{"category": ["biolink:Drug"], "id": "CHEBI:100147", "medic_application_numbers": ["014214|017430|070270|070271|070272|071919|071936|072061"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J01MB02"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1d3f4d29-2d63-5869-86ed-5a0b1a74cf67", "medic_registration_numbers": ["MOH_RUSSIA:П N012374/01"], "medic_reliability": "HIGH", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2ccc(C)nc21", "name": "nalidixic acid", "provided_by": ["infores:medic"], "synonym": ["NALIDIXIC ACID", "Nalidixic acid"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:100246", "medic_application_numbers": ["019384|019757"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["J01MA06", "S01AE02"], "medic_earliest_approval_date": "19810101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2ead475c-ee23-53f5-9364-6a46c19f0c43", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002563"], "medic_reliability": "HIGH", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc(F)c(N3CCNCC3)cc21", "name": "norfloxacin", "provided_by": ["infores:medic"], "synonym": ["NORFLOXACIN", "Norfloxacin", "Norfloxacin 200mg/400mg/800mg Tablet & 100mg ODT(July-93)", "Norfloxacin Capsules", "Norfloxacin Tablets"], "xref": ["DRUGBANK:DB01059"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:10093", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091201", "medic_mention_id": "MEDICNE:1729149f-63f5-5112-a66f-85294c56e97d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007211"], "medic_reliability": "MEDIUM", "name": "yohimbine", "provided_by": ["infores:medic"], "synonym": ["Yohimbine hydrochloride", "Йохимбина гидрохлорид"], "xref": ["CHEMBL.COMPOUND:CHEMBL15245,CHEMBL537669", "DrugCentral:3659", "GTOPDB:102", "PHAROS:GL6TM19DJZTU", "PUBCHEM.COMPOUND:8969,57479379", "UNII:2Y49VWD90Q"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:101096", "medic_application_numbers": ["011047|016144"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:86692876-f979-5700-bcad-f5556c640428", "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc2nc(S(N)(=O)=O)sc2c1", "name": "ethoxzolamide", "provided_by": ["infores:medic"], "synonym": ["ETHOXZOLAMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL18", "DrugCentral:1089", "GTOPDB:6814", "PHAROS:4A9286PPMZ4F", "PUBCHEM.COMPOUND:3295", "UNII:Z52H4811WX"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:10112", "medic_application_numbers": ["020471|022052|204929|211043|211390|211972|212670|215742"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19961209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:99e5b374-041e-5d31-9766-4c9c241f521d", "medic_reliability": "HIGH", "medic_smiles": "CC(c1cc2ccccc2s1)N(O)C(N)=O", "name": "zileuton", "provided_by": ["infores:medic"], "synonym": ["ZILEUTON", "Zileuton"], "xref": ["CHEMBL.COMPOUND:CHEMBL93", "DRUGBANK:DB00744", "DrugCentral:2862", "GTOPDB:5297", "PHAROS:96L5WFP1BGGT", "PUBCHEM.COMPOUND:60490", "UNII:V1L22WVE2S"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:10119", "medic_application_numbers": ["020825|021483|077560|077561|077562|077565|090348|202395|204117|204375|208988"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20010205", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:360a63b8-789f-59bf-bf65-a82023024a62", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000210"], "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)O.O=C1Cc2cc(CCN3CCN(c4nsc5ccccc45)CC3)c(Cl)cc2N1", "name": "ziprasidone", "provided_by": ["infores:medic"], "synonym": ["ZIPRASIDONE HYDROCHLORIDE", "ZIPRASIDONE MESYLATE", "Ziprasidone"], "xref": ["CHEMBL.COMPOUND:CHEMBL708,CHEMBL1712", "DRUGBANK:DB00246", "DrugCentral:2865", "GTOPDB:59", "PHAROS:4P3RKTZ5ANZ8", "PUBCHEM.COMPOUND:60854,67108352", "UNII:6UKA5VEJ6X"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:10125", "medic_application_numbers": ["019908|021412|021774|021997|022196|022328|076062|076410|076578|077214|077288|077322|077359|077388|077540|077773|077884|077903|077985|077990|078016|078055|078129|078148|078179|078184|078413|078426|078483|078616|078970|090107|090153|200266|201509|202657|204170|204229|204299|204503|213592|215721"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["N05CF02"], "medic_earliest_approval_date": "19921216", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5f88474f-d2fc-5de0-ab94-6a75bc50c5bf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002277"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(-c2nc3ccc(C)cn3c2CC(=O)N(C)C)cc1", "name": "zolpidem", "provided_by": ["infores:medic"], "synonym": ["ZOLPIDEM TARTRATE", "Zolpidem"], "xref": ["CHEMBL.COMPOUND:CHEMBL911", "DRUGBANK:DB00425", "DrugCentral:2870", "GTOPDB:4348", "PHAROS:TF7FWLNCSVL1", "PUBCHEM.COMPOUND:5732", "UNII:7K383OQI23"]}
{"category": ["biolink:Drug"], "id": "CHEBI:10126", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19950123", "medic_mention_id": "MEDICNE:7fd38945-a067-5e98-9326-c2a31a1fb2e2", "medic_reliability": "MEDIUM", "name": "zolpidem tartrate", "provided_by": ["infores:medic"], "synonym": ["Zolpidem Hemitartrate 5mg/10mg Film Coated Tablet", "Zolpidem Tartarate Orally disintegrating Tablet 5mg/10mg (Additional dosage form)", "Zolpidem Tartrate Tablets", "酒石酸唑吡坦片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:110423", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090514", "medic_mention_id": "MEDICNE:ce9717a0-2c73-5b8c-8d6b-e5a4c9eef9ce", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000446"], "medic_reliability": "HIGH", "name": "clodronic acid", "provided_by": ["infores:medic"], "synonym": ["Clodronic acid"], "xref": ["DRUGBANK:DB00720", "DrugCentral:690", "GTOPDB:9605", "PHAROS:25HNUDAS8UUC", "PUBCHEM.COMPOUND:25419", "UNII:0813BZ6866"]}
{"category": ["biolink:Drug"], "id": "CHEBI:113451", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100831", "medic_mention_id": "MEDICNE:f25759a9-aab2-53b5-b27e-d5a3b9f39272", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002630"], "medic_reliability": "MEDIUM", "name": "sodium ascorbate", "provided_by": ["infores:medic"], "synonym": ["Ascorbic acid + Macrogol + Sodium ascorbate + Sodium sulfate + [Potassium chloride + Sodium chloride]", "Sodium ascorbate", "Аскорбиновая кислота+Макрогол+Натрия аскорбат+Натрия сульфат+[Калия хлорид+Натрия хлорид]"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:114203", "medic_application_numbers": ["011695"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19711231", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b929d7f6-60f5-52c2-bca7-e651b11b56af", "medic_registration_numbers": ["MOH_RUSSIA:71/945/30"], "medic_reliability": "HIGH", "name": "4-amino-2-hydroxybenzoic acid phenyl ester", "provided_by": ["infores:medic"], "synonym": ["PHENYL AMINOSALICYLATE", "Tebain"]}
{"category": ["biolink:Drug"], "id": "CHEBI:114769", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20140624", "medic_mention_id": "MEDICNE:bd5155a1-0c15-5a54-9acd-4b27d5f764ea", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002510"], "medic_reliability": "MEDIUM", "name": "4-nitro-N-[1-(2-oxo-1-benzopyran-3-yl)ethylideneamino]benzamide", "provided_by": ["infores:medic"], "synonym": ["4-Nitro-N-[(1RS)-1-(4-fluorophenyl)-2-(1-ethylpiperidin-4-yl)ethyl]benzamide hydrochloride", "4-Нитро-N-[(1RS)-1-(4-фторфенил)-2-(1-этилпиперидин-4-ил)этил] бензамида гидрохлорид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:114785", "medic_application_numbers": ["021743|091002|091059|203843|208396|208488|209267|210300|211083|211960|213065|214366|214719|216342"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20041118", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fd0c2b72-59a7-565c-948d-e3abaff13b02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003050"], "medic_reliability": "HIGH", "medic_smiles": "C#Cc1cccc(Nc2ncnc3cc(OCCOC)c(OCCOC)cc23)c1.Cl", "name": "erlotinib", "provided_by": ["infores:medic"], "synonym": ["ERLOTINIB HYDROCHLORIDE", "Erlotinib", "erlotinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL553,CHEMBL1079742", "DRUGBANK:DB00530", "DrugCentral:1045", "GTOPDB:4920", "PHAROS:NUXHNF3XHDN6", "PUBCHEM.COMPOUND:176870,44263854", "UNII:J4T82NDH7E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:115156", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110301", "medic_mention_id": "MEDICNE:8db852ce-5a62-5253-b0a2-db26d112d784", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001067"], "medic_reliability": "MEDIUM", "name": "disodium fumarate", "provided_by": ["infores:medic"], "synonym": ["Sodium fumarate", "Натрия фумарат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:116278", "medic_application_numbers": ["020013"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["J01MA07", "S01AE04"], "medic_earliest_approval_date": "19920221", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fc71d65d-dd7c-5780-a6c4-4bfe296df7be", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006338)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc(F)c(N3CCNC(C)C3)c(F)c21", "name": "lomefloxacin", "provided_by": ["infores:medic"], "synonym": ["Isoniazid + Lomefloxacin + Pyrazinamide + Ethambutol + [Pyridoxine]", "LOMEFLOXACIN HYDROCHLORIDE", "Lomefloxacin", "Lomefloxacin 400mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:116735", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C05AD03", "D04AB04", "N01BA05", "R02AD01"], "medic_earliest_approval_date": "19640430", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:f328dc33-6e25-5fd1-91c8-426c7563abf4", "medic_registration_numbers": ["MOH_RUSSIA:64/228/14"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)c1ccc(N)cc1", "name": "benzocaine", "provided_by": ["infores:medic"], "synonym": ["Benzocaine", "Benzocaine + Chlorhexidine", "Benzocaine + Levomenthol + Procaine", "Benzocaine + Procaine + Levomenthol", "Benzocaine + Sodium Heparin", "Sodium Heparin + Benzocaine"], "xref": ["CHEMBL.COMPOUND:CHEMBL278172", "DRUGBANK:DB01086", "DrugCentral:323", "PHAROS:XCPNWX3CQBWX", "PUBCHEM.COMPOUND:2337", "UNII:U3RSY48JW5"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:116962", "medic_stub": true, "name": "fosinoprilat", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:119486", "medic_application_numbers": ["020972|021360|077673|078064|078509|078886|091471|091579|204766|204869|205322"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "russia", "usa"], "medic_atc_codes": ["J05AG03"], "medic_earliest_approval_date": "19980917", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a4616088-8442-5d64-a077-4e400acd7df4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002511"], "medic_reliability": "HIGH", "medic_smiles": "O=C1Nc2ccc(Cl)cc2[C@@](C#CC2CC2)(C(F)(F)F)O1", "name": "efavirenz", "provided_by": ["infores:medic"], "synonym": ["EFAVIRENZ", "EFAVIRENZ; EMTRICITABINE; TENOFOVIR DISOPROXIL FUMARATE", "EFAVIRENZ; LAMIVUDINE; TENOFOVIR DISOPROXIL FUMARATE", "Efavirenz", "Efavirenz Tablets", "efavirenz", "efavirenz;emtricitabine;tenofovir disoproxil"], "xref": ["CHEMBL.COMPOUND:CHEMBL223228", "DRUGBANK:DB00625", "DrugCentral:989", "PHAROS:FRVL6LWPXSL8", "PUBCHEM.COMPOUND:64139", "UNII:JE6H2O27P8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:119573", "medic_application_numbers": ["020705"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970404", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ca750dbb-0367-5925-a153-535564a4c473", "medic_reliability": "HIGH", "name": "delavirdine", "provided_by": ["infores:medic"], "synonym": ["DELAVIRDINE MESYLATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:124991", "medic_application_numbers": ["050482|062422|062426|062435|062464|062547|062548|062549|062666|062730"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01DB03"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b7052fdb-7b5e-5222-b631-69878c8a2171", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)Cc3cccs3)[C@H]2SC1", "name": "cefalotin", "provided_by": ["infores:medic"], "synonym": ["CEPHALOTHIN SODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:125354", "medic_application_numbers": ["022311|205182|205197|206644|208980|211901|213672|215334|215698|217560"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L03AX16"], "medic_earliest_approval_date": "20081215", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bc06aeaa-af75-595b-b2b1-0675820051bd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002352"], "medic_reliability": "HIGH", "medic_smiles": "c1cc(CN2CCCNCCNCCCNCC2)ccc1CN1CCCNCCNCCCNCC1", "name": "plerixafor", "provided_by": ["infores:medic"], "synonym": ["PLERIXAFOR", "Plerixafor", "Plerixafor Injection 20mg/ml", "plerixafor"], "xref": ["CHEMBL.COMPOUND:CHEMBL18442,CHEMBL2311089,CHEMBL2311028", "DRUGBANK:DB06809", "DrugCentral:4410", "GTOPDB:844", "PHAROS:ARBHCJDMDX7U", "PUBCHEM.COMPOUND:65015,16727404,11147142", "UNII:S915P5499N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:125612", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19880715", "medic_mention_id": "MEDICNE:2ede98da-b470-5bc1-af4b-134a96b43043", "medic_registration_numbers": ["MOH_RUSSIA:88/561/1"], "medic_reliability": "MEDIUM", "name": "2,3,5,6,7,8-hexahydro-1H-cyclopenta[b]quinolin-9-amine", "provided_by": ["infores:medic"], "synonym": ["Ipidacrine", "Ипидакрин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:127342", "medic_application_numbers": ["021411|078983|079016|079017|079019|079021|079022|090609|202682"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "20021126", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ac0b18de-c169-54a3-ad92-66d1f94a2781", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004636"], "medic_reliability": "HIGH", "medic_smiles": "CNCC[C@@H](Oc1ccccc1C)c1ccccc1.Cl", "name": "atomoxetine", "provided_by": ["infores:medic"], "synonym": ["ATOMOXETINE HYDROCHLORIDE", "Atomoxetine"], "xref": ["CHEMBL.COMPOUND:CHEMBL641", "DRUGBANK:DB00289", "DrugCentral:256", "GTOPDB:7118", "PHAROS:6F1APR11NCH5", "PUBCHEM.COMPOUND:54841", "UNII:ASW034S0B8"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:12777", "medic_application_numbers": ["006823|080702|080746|080819|080830|080860|080883|080921|080943|080953|080955|080967|080972|083035|083114|083187|083190|083207|083311|083321|083457|083665|083948|083981|085479"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2a27cd11-3fa3-57a1-8185-a6a8d9b70368", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCC(=O)OC/C=C(C)/C=C/C=C(C)/C=C/C1=C(C)CCCC1(C)C", "name": "vitamin A", "provided_by": ["infores:medic"], "synonym": ["VITAMIN A", "VITAMIN A PALMITATE"], "xref": ["UNII:81G40H8B0T"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:127780", "medic_application_numbers": ["020068|077174|212483|213001|213807|213987|216602"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19910927", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:91ebc413-f3e2-534d-b43f-944853b85b60", "medic_reliability": "HIGH", "name": "phosphonoformic acid", "provided_by": ["infores:medic"], "synonym": ["FOSCARNET SODIUM", "FOSCARNET SODIUM HYDRATE", "Foscarnet"], "xref": ["DRUGBANK:DB00529", "UNII:364P9RVW4X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:128458", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:6c1942b6-2f1d-5db5-a268-7a4ca7d60180", "medic_reliability": "MEDIUM", "name": "disodium cromoglycate", "provided_by": ["infores:medic"], "synonym": ["Sodium Cromoglycate (Bulk)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:131169", "medic_application_numbers": ["211155"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["L01EM04"], "medic_earliest_approval_date": "20180924", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fe56182f-a0a3-5375-a069-7b69867c297c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006862"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](Nc1ncnc2nc[nH]c12)c1cc2cccc(Cl)c2c(=O)n1-c1ccccc1", "name": "8-chloro-2-phenyl-3-[(1S)-1-(7H-purin-6-ylamino)ethyl]-1-isoquinolinone", "provided_by": ["infores:medic"], "synonym": ["DUVELISIB", "Duvelisib", "duvelisib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3805348", "DRUGBANK:DB11952", "PHAROS:GWR22SUXPGB7", "PUBCHEM.COMPOUND:71655831", "UNII:610V23S0JI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131366", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710527", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_mention_id": "MEDICNE:3c2f5a36-01f0-5ea6-bb85-bfc45c922c41", "medic_registration_numbers": ["MOH_RUSSIA:71/380/1"], "medic_reliability": "MEDIUM", "name": "disodium tetraborate decahydrate", "provided_by": ["infores:medic"], "synonym": ["Sodium tetraborate", "Натрия тетраборат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131389", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110222", "medic_mention_id": "MEDICNE:b0eee989-02cb-57d5-95b7-94b53900f837", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000338"], "medic_reliability": "MEDIUM", "name": "magnesium citrate", "provided_by": ["infores:medic"], "synonym": ["Magnesium Citrate + Pyridoxine", "Магния цитрат+Пиридоксин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131391", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A06AD19", "A12CC04", "B05CB03"], "medic_earliest_approval_date": "20101223", "medic_mention_id": "MEDICNE:6e700d62-1f6f-5fcc-ae86-15da1ba0b7f9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000104"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C([O-])CC(O)(CC(=O)[O-])C(=O)[O-].O=C([O-])CC(O)(CC(=O)[O-])C(=O)[O-].[Mg+2].[Mg+2].[Mg+2]", "name": "trimagnesium dicitrate", "provided_by": ["infores:medic"], "synonym": ["Magnesium citrate", "Магния цитрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131526", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19740709", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_mention_id": "MEDICNE:507cdaaa-7f7f-530e-abfd-b8fff93857e8", "medic_registration_numbers": ["MOH_RUSSIA:74/614/4"], "medic_reliability": "MEDIUM", "name": "potassium carbonate", "provided_by": ["infores:medic"], "synonym": ["Potassium carbonate", "Калия карбонат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:131527", "medic_application_numbers": ["018270|019870"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d69541cc-d924-5dcc-9317-7455af460364", "medic_reliability": "MEDIUM", "name": "dipotassium hydrogen phosphate", "provided_by": ["infores:medic"], "synonym": ["DEXTROSE; POTASSIUM CHLORIDE; POTASSIUM PHOSPHATE, DIBASIC; SODIUM ACETATE; SODIUM CHLORIDE", "POTASSIUM PHOSPHATE, DIBASIC; POTASSIUM PHOSPHATE, MONOBASIC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131714", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19670131", "medic_mention_id": "MEDICNE:0a8b1d8d-d201-59f3-8b1c-b98cca096528", "medic_registration_numbers": ["MOH_RUSSIA:67/85/71"], "medic_reliability": "MEDIUM", "name": "furagin", "provided_by": ["infores:medic"], "synonym": ["Furazidine", "Фуразидин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131733", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01CE06"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:462b6c63-a35d-5f83-8fe6-7840c1892c8e", "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)OCOC(=O)[C@@H]1N2C(=O)[C@@H](NC(=O)Cc3ccccc3)[C@H]2SC1(C)C", "name": "penamecillin", "provided_by": ["infores:medic"], "synonym": ["Penamecillin 0.35gm Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:131843", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C01EB22"], "medic_earliest_approval_date": "20061027", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:f42c199e-a356-5975-a90c-4cf90cc5dc19", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000578"], "medic_reliability": "MEDIUM", "medic_smiles": "C[N+](C)(C)NCCC(=O)[O-]", "name": "meldonium", "provided_by": ["infores:medic"], "synonym": ["Meldonium", "Meldonium + Ethylmethylhydroxypyridine succinate", "Мельдоний"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:132041", "medic_stub": true, "name": "perindoprilat", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:132112", "medic_application_numbers": ["020166|203923|212937"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19920214", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aa96c6d3-b731-55ef-a76e-dde0401ae90f", "medic_reliability": "HIGH", "name": "sodium thiosulfate", "provided_by": ["infores:medic"], "synonym": ["SODIUM THIOSULFATE", "sodium thiosulfate"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:132268", "medic_application_numbers": ["211288"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EB07"], "medic_earliest_approval_date": "20180927", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ac9853d5-d3ca-5755-97ea-eb18eb7dba02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007502"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2ncnc(Nc3ccc(F)c(Cl)c3)c2cc1NC(=O)/C=C/CN1CCCCC1.O", "name": "dacomitinib", "provided_by": ["infores:medic"], "synonym": ["DACOMITINIB", "DACOMITINIB HYDRATE", "Dacomitinib", "Dacomitinib tablet 15mg, 30mg and 45mg", "dacomitinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110732,CHEMBL2105719", "DRUGBANK:DB11963", "DrugCentral:5297", "GTOPDB:7422", "PHAROS:PSP3LBW32FKK", "PUBCHEM.COMPOUND:11511120,70693519", "UNII:2XJX250C20"]}
{"category": ["biolink:Drug"], "id": "CHEBI:132767", "medic_application_numbers": ["206317|208551|212860"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20150123", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:47d08d69-5f32-53d9-9bd9-2c30696de52f", "medic_reliability": "HIGH", "name": "ferric pyrophosphate", "provided_by": ["infores:medic"], "synonym": ["FERRIC PYROPHOSPHATE CITRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:132774", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_atc_codes": ["B03XA05"], "medic_earliest_approval_date": "20190920", "medic_mention_id": "MEDICNE:99d3f1a6-e1cf-5e6a-8c01-6299e77375b2", "medic_reliability": "HIGH", "medic_smiles": "Cc1nc(C(=O)NCC(=O)O)c(O)c2ccc(Oc3ccccc3)cc12", "name": "roxadustat", "provided_by": ["infores:medic"], "synonym": ["ROXADUSTAT", "Roxadustat", "roxadustat"], "xref": ["CHEMBL.COMPOUND:CHEMBL2338329", "DRUGBANK:DB04847", "DrugCentral:5371", "PHAROS:DF2VY1XDT8YN", "PUBCHEM.COMPOUND:11256664", "UNII:X3O30D9YMX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:132842", "medic_application_numbers": ["000159"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_atc_codes": ["J01EB04"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9a999a12-53ac-59e3-adde-41d62161650f", "medic_reliability": "HIGH", "medic_smiles": "Nc1ccc(S(=O)(=O)Nc2ccccn2)cc1", "name": "sulfapyridine", "provided_by": ["infores:medic"], "synonym": ["SULFAPYRIDINE", "Sulfapyridine Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:132967", "medic_application_numbers": ["208261"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["J05AP10"], "medic_earliest_approval_date": "20160128", "medic_features": ["ANTIMICROBIAL", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:59969768-40df-546c-a050-98b52f8f782f", "medic_reliability": "HIGH", "medic_smiles": "COC(=O)N[C@H](C(=O)N1CCC[C@H]1c1nc(-c2ccc3c(c2)O[C@@H](c2ccccc2)n2c-3cc3cc(-c4c[nH]c([C@@H]5CCCN5C(=O)[C@@H](NC(=O)OC)C(C)C)n4)ccc32)c[nH]1)C(C)C", "name": "elbasvir", "provided_by": ["infores:medic"], "synonym": ["ELBASVIR", "ELBASVIR; GRAZOPREVIR", "Elbasvir", "elbasvir;grazoprevir"], "xref": ["DRUGBANK:DB11574", "UNII:632L571YDK"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:133008", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20180523", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c6f4a849-44d3-5354-b102-9c9760c08024", "medic_reliability": "MEDIUM", "name": "Epclusa", "provided_by": ["infores:medic"], "synonym": ["Sofosbuvir/Velpatasvir Tablets", "索磷布韦维帕他韦片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:133353", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19991211", "medic_mention_id": "MEDICNE:06854622-edcb-5cf5-b123-9560dbeba1db", "medic_reliability": "MEDIUM", "name": "montmorillonite", "provided_by": ["infores:medic"], "synonym": ["Montmorillonite Granules", "Montmorillonite Powder", "蒙脱石散"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:133809", "medic_application_numbers": ["010909"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:83e645eb-5f9b-5aa6-88ef-d8a4d97e3472", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(C2C(=O)c3ccccc3C2=O)cc1", "name": "anisindione", "provided_by": ["infores:medic"], "synonym": ["ANISINDIONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL712", "DrugCentral:222", "PHAROS:MLJXNG78916K", "PUBCHEM.COMPOUND:2197", "UNII:S747T1ERAJ"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:134708", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20130101", "medic_mention_id": "MEDICNE:3886fbdd-0ac3-50f0-990b-8c109e09878f", "medic_reliability": "MEDIUM", "medic_smiles": "CCO[C@@H](Cc1ccc(OCCn2c(C)ccc2-c2ccc(SC)cc2)cc1)C(=O)O", "name": "saroglitazar", "provided_by": ["infores:medic"], "synonym": ["Saroglitazar 2mg/4mg Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297530", "DrugCentral:5047", "PHAROS:W2U5JFQXB6SB", "PUBCHEM.COMPOUND:60151560", "UNII:E0YMX3S4JD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134709", "medic_application_numbers": ["211150"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_atc_codes": ["N07XX11"], "medic_earliest_approval_date": "20160331", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1d0599df-f3c8-5c60-9ee8-db1f3c379cf2", "medic_reliability": "HIGH", "medic_smiles": "Cl.Clc1ccc(CCCOCCCN2CCCCC2)cc1", "name": "pitolisant", "provided_by": ["infores:medic"], "synonym": ["PITOLISANT HYDROCHLORIDE", "Pitolisant", "Pitolisant Bulk drug and Pitolisant Tablets 4.45 mg and 17.8 mg", "pitolisant"], "xref": ["CHEMBL.COMPOUND:CHEMBL462605,CHEMBL4164059", "DRUGBANK:DB11642", "DrugCentral:5048", "GTOPDB:8924", "PHAROS:SGNUZPNGMXH7", "PUBCHEM.COMPOUND:9948102,11551689", "UNII:4BC83L4PIY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134711", "medic_application_numbers": ["020617"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19970509", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8b043a95-2b03-5c7c-b7f5-7e94969ddd58", "medic_reliability": "HIGH", "name": "UREA C 14", "provided_by": ["infores:medic"], "synonym": ["13C-urea", "UREA, C-14"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134712", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150703", "medic_mention_id": "MEDICNE:1285d4a0-4943-5ff4-85c7-f1f9ccc86a3c", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCNC(=N)NC(=N)NCc1ccc(Cl)c(Cl)c1", "name": "olanexidine", "provided_by": ["infores:medic"], "synonym": ["OLANEXIDINE GLUCONATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134714", "medic_application_numbers": ["207620|213604|213605|213611|213627|213668|213676|213680|213682|213719|213728|213748|213764|213808|218591|219983"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_earliest_approval_date": "20150707", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:416cfd16-e4a8-5f8f-a639-444df18dcba3", "medic_reliability": "HIGH", "name": "sacubitril", "provided_by": ["infores:medic"], "synonym": ["SACUBITRIL; VALSARTAN", "Sacubitril", "Sacubitril/Valsartan (as sodium salt complex) and FDC of Sacubitril + Valartan 50 (24+26)/100 (49+51)/200 (97+103) mg film coated tablets", "sacubitril;valsartan"], "xref": ["CHEMBL.COMPOUND:CHEMBL3137301", "DRUGBANK:DB09292", "DrugCentral:5012", "PHAROS:1DFW7NBLV8Z2", "PUBCHEM.COMPOUND:9811834", "UNII:17ERJ0MKGI", "UNII:SPI5PBF81S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134715", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150326", "medic_mention_id": "MEDICNE:39f9dd8c-d94c-5dca-b2fc-50e4dca2a3b6", "medic_reliability": "HIGH", "medic_smiles": "Cn1c(=O)cc(N2CCC[C@@H](N)C2)n(Cc2cc(F)ccc2C#N)c1=O", "name": "trelagliptin", "provided_by": ["infores:medic"], "synonym": ["TRELAGLIPTIN SUCCINATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1650443", "DrugCentral:5013", "PHAROS:AK17MSZBKLPC", "PUBCHEM.COMPOUND:15983988"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134716", "medic_application_numbers": ["205422|213512|213562|213570|213659|213660|213669|213683|213692|213718|213731|213758|213782"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["N05AX16"], "medic_earliest_approval_date": "20150710", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7d4b2a3c-2b65-5372-b757-7fd1e3ddde5e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006867"], "medic_reliability": "HIGH", "medic_smiles": "O=c1ccc2ccc(OCCCCN3CCN(c4cccc5sccc45)CC3)cc2[nH]1", "name": "brexpiprazole", "provided_by": ["infores:medic"], "synonym": ["BREXPIPRAZOLE", "Brexpiprazole", "Brexpiprazole Bulk Drug", "Brexpiprazole Tablets 0.25/0.5/1/2/3/4 mg", "brexpiprazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105760", "DRUGBANK:DB09128", "DrugCentral:5014", "GTOPDB:7672", "PHAROS:TADN4TTKMGCN", "PUBCHEM.COMPOUND:11978813", "UNII:2J3YBM1K8C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134717", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081017", "medic_mention_id": "MEDICNE:f3723a95-919a-559c-99e5-e227bf323427", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000313"], "medic_reliability": "MEDIUM", "medic_smiles": "CC1CCC(C(C)C)C(OC(=O)C[N+](C)(C)CCCCCCCCCC[N+](C)(C)CC(=O)OC2CC(C)CCC2C(C)C)C1", "name": "decamethoxine", "provided_by": ["infores:medic"], "synonym": ["Decamethoxin", "Декаметоксин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134718", "medic_application_numbers": ["207145|215739|215902|215913|215978"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N04BD03"], "medic_earliest_approval_date": "20150223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:099c1ea3-838a-58fa-8e88-2858ba47bce6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011141)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](NCc1ccc(OCc2cccc(F)c2)cc1)C(N)=O", "name": "safinamide", "provided_by": ["infores:medic"], "synonym": ["SAFINAMIDE MESILATE", "SAFINAMIDE MESYLATE", "Safinamide", "safinamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL396778", "DRUGBANK:DB06654", "DrugCentral:4921", "GTOPDB:8291", "PHAROS:DTWNHFHALMXH", "PUBCHEM.COMPOUND:131682", "UNII:90ENL74SIG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134719", "medic_application_numbers": ["206829"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20141219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a0299428-7a4d-5724-b1f2-a25d2321b815", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005085"], "medic_reliability": "HIGH", "name": "ceftolozane", "provided_by": ["infores:medic"], "synonym": ["CEFTOLOZANE SULFATE", "CEFTOLOZANE SULFATE; TAZOBACTAM SODIUM", "Ceftolozan+[Tazobactam]", "FDC of Ceftolozane (1.0 gm) and Tazobactum (0.5 gm) injection", "ceftolozane;tazobactam"], "xref": ["UNII:37A4IES95Q"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134721", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20130920", "medic_mention_id": "MEDICNE:22c59da8-21c0-517b-8d61-8ee99dc0e21e", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCCOc1nc2ccc(C)cc2c(=O)o1", "name": "cetilistat", "provided_by": ["infores:medic"], "synonym": ["CETILISTAT", "Cetilistat bulk and Cetilistat 120 mg tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103825", "DrugCentral:4886", "PHAROS:F329F5K2JKGD", "PUBCHEM.COMPOUND:9952916", "UNII:LC5G1JUA39"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134722", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia"], "medic_atc_codes": ["J05AX27"], "medic_earliest_approval_date": "20091028", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:31285276-ffe3-5d9f-9b28-2e4426435837", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006225"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)c1nc(F)cnc1O", "name": "favipiravir", "provided_by": ["infores:medic"], "synonym": ["Avisan", "FAVIPIRAVIR", "Favilavir", "Favipiravir bulk and Favipiravir film coated tablet 200mg", "Favipiravir film coated tablet 400mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134723", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["J05AP06"], "medic_earliest_approval_date": "20150603", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:071c46d7-4038-5f93-a5b7-340e904fe3df", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003022"], "medic_reliability": "HIGH", "medic_smiles": "C=C[C@@H]1C[C@]1(NC(=O)[C@@H]1C[C@@H](Oc2ncc(OC)c3ccc(Cl)cc23)CN1C(=O)[C@@H](NC(=O)OC(C)(C)C)C(C)(C)C)C(=O)NS(=O)(=O)C1CC1", "name": "asunaprevir", "provided_by": ["infores:medic"], "synonym": ["ASUNAPREVIR", "Asunaprevir"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134724", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20190522", "medic_mention_id": "MEDICNE:11d0c8ef-ab88-5555-8cd8-05c7370da960", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005535"], "medic_reliability": "MEDIUM", "name": "ipragliflozin", "provided_by": ["infores:medic"], "synonym": ["Ipragliflozin", "Ипраглифлозин"], "xref": ["CHEMBL.COMPOUND:CHEMBL2018096", "DrugCentral:4890", "GTOPDB:9394", "PHAROS:CPJXPDYKBUDM", "PUBCHEM.COMPOUND:10453870", "UNII:3N2N8OOR7X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134725", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["A10BK07"], "medic_earliest_approval_date": "20140324", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:0c1b3b97-4a23-5f70-bcf7-71fbc705afc4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003622)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc(Cc2cc([C@@H]3S[C@H](CO)[C@@H](O)[C@H](O)[C@H]3O)c(OC)cc2C)cc1", "name": "luseogliflozin", "provided_by": ["infores:medic"], "synonym": ["LUSEOGLIFLOZIN HYDRATE", "Luseogliflozin"], "xref": ["CHEMBL.COMPOUND:CHEMBL3781004,CHEMBL1093423", "DrugCentral:4891", "PHAROS:W1VYUY24VD11", "PUBCHEM.COMPOUND:56928196,11988953", "UNII:C596HWF74Z"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134726", "medic_application_numbers": ["022075"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["N04CX01"], "medic_earliest_approval_date": "20130325", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7f3abff5-7f03-505c-adc8-03762065183b", "medic_reliability": "HIGH", "medic_smiles": "CCn1c(=O)c2c(nc(/C=C/c3ccc(OC)c(OC)c3)n2C)n(CC)c1=O", "name": "istradefylline", "provided_by": ["infores:medic"], "synonym": ["ISTRADEFYLLINE", "Istradefylline"], "xref": ["CHEMBL.COMPOUND:CHEMBL431770", "DRUGBANK:DB11757", "DrugCentral:4882", "GTOPDB:5608", "PHAROS:G168UKNUG9TX", "PUBCHEM.COMPOUND:5311037", "UNII:2GZ0LIK7T4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134729", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A02BC07"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:63775217-1983-59fd-a977-e2905531baa4", "medic_reliability": "MEDIUM", "medic_smiles": "COCCCOc1ccnc(C[S@@+]([O-])c2nc3ccccc3[nH]2)c1C", "name": "dexrabeprazole", "provided_by": ["infores:medic"], "synonym": ["Dexrabeprazole 10mg (EC) + Domperidone 30mg SR Capsules", "Dexrabeprazole sodium Enteric Coated tablet 5mg/10mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1615209", "DrugCentral:4867", "PHAROS:6VLUQHCWZU89", "PUBCHEM.COMPOUND:9906855", "UNII:65JK8810RM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134730", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_atc_codes": ["J05AX13"], "medic_earliest_approval_date": "20070510", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:8a8e22da-6549-5f9b-99ab-60059342fb58", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002690"], "medic_reliability": "MEDIUM", "medic_smiles": "CCOC(=O)c1c(CSc2ccccc2)n(C)c2cc(Br)c(O)c(CN(C)C)c12", "name": "umifenovir", "provided_by": ["infores:medic"], "synonym": ["Arbidol Hydrochloride Tablets", "Arbidol®", "Umifenovir", "Умифеновир"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134731", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20181211", "medic_mention_id": "MEDICNE:5c3518dd-501e-53f9-bca4-59f72f73c5de", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005247"], "medic_reliability": "HIGH", "name": "gemigliptin", "provided_by": ["infores:medic"], "synonym": ["Gemigliptin", "Gemigliptin 50mg", "Гемиглиптин"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707235", "DrugCentral:4833", "PHAROS:YXH3J7KLRU7C", "PUBCHEM.COMPOUND:11953153", "UNII:5DHU18M5D6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134735", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150928", "medic_mention_id": "MEDICNE:42a43a66-42f4-5730-9bc4-3be630528871", "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)n1cc2c(n1)CN([C@H]1CO[C@H](c3cc(F)ccc3F)[C@@H](N)C1)C2", "name": "omarigliptin", "provided_by": ["infores:medic"], "synonym": ["OMARIGLIPTIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105762", "DrugCentral:5054", "GTOPDB:8402", "PHAROS:VXX87QXBDDJG", "PUBCHEM.COMPOUND:46209133"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134740", "medic_application_numbers": ["015419|016666|017313"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V09CX01"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1e6a0850-493d-544a-9507-04edfd6450f6", "medic_reliability": "LOW", "medic_smiles": "O=C([O-])CNC(=O)c1ccccc1[123I].[Na+]", "name": "sodium 2-((131)I)iodohippurate", "provided_by": ["infores:medic"], "synonym": ["IODOHIPPURATE SODIUM I-131"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134741", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20100910", "medic_mention_id": "MEDICNE:96453f64-9d4e-5489-864f-1a476213b39f", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCC(=O)OC[C@@H](O)[C@@H](OC)[C@@H]1OC(C(=O)O)=C[C@H](NC(=N)N)[C@H]1NC(C)=O", "name": "laninamivir octanoate hydrate", "provided_by": ["infores:medic"], "synonym": ["LANINAMIVIR OCTANOATE HYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134742", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia"], "medic_atc_codes": ["J04AK06"], "medic_earliest_approval_date": "20140427", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:9bfbfefb-4fa6-5ab6-8acb-6dbe3ba43189", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-N (000057)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]1(COc2ccc(N3CCC(Oc4ccc(OC(F)(F)F)cc4)CC3)cc2)Cn2cc([N+](=O)[O-])nc2O1", "name": "delamanid", "provided_by": ["infores:medic"], "synonym": ["DELAMANID", "Delamanid", "Delamanid 50 mg tablet", "delamanid"], "xref": ["DRUGBANK:DB11637"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134743", "medic_application_numbers": ["205123"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["J05AP05"], "medic_earliest_approval_date": "20130927", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f78f35ad-5a10-5516-89f1-207a439135f4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002384"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc2c(O[C@@H]3C[C@H]4C(=O)N[C@]5(C(=O)NS(=O)(=O)C6CC6)C[C@H]5/C=C\\CCCCN(C)C(=O)[C@@H]4C3)cc(-c3nc(C(C)C)cs3)nc2c1C", "name": "simeprevir", "provided_by": ["infores:medic"], "synonym": ["SIMEPREVIR SODIUM", "Simeprevir"], "xref": ["CHEMBL.COMPOUND:CHEMBL501849", "DRUGBANK:DB06290", "DrugCentral:4812", "PHAROS:G7F7Q6ZWA7QY", "PUBCHEM.COMPOUND:24873435", "UNII:9WS5RD66HZ"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134745", "medic_application_numbers": ["203284|205742"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["A16AX09"], "medic_earliest_approval_date": "20130201", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:63ee2be6-f4fe-516f-98ba-30fec945028c", "medic_reliability": "HIGH", "medic_smiles": "O=C(CCCc1ccccc1)OCC(COC(=O)CCCc1ccccc1)OC(=O)CCCc1ccccc1", "name": "glycerol phenylbutyrate", "provided_by": ["infores:medic"], "synonym": ["GLYCEROL PHENYLBUTYRATE", "Glycerol phenylbutyrate", "glycerol phenylbutyrate"], "xref": ["DRUGBANK:DB08909"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134750", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D02BA02"], "medic_earliest_approval_date": "20090101", "medic_mention_id": "MEDICNE:03929aaa-a66c-5e58-b6f2-9d45001d703d", "medic_reliability": "MEDIUM", "medic_smiles": "CCCCC(CC)COC(=O)C=Cc1ccc(OC)cc1", "name": "octinoxate", "provided_by": ["infores:medic"], "synonym": ["Octinoxate 7.5% + Avobenzone 2% + Oxybenzone 3% + Octocrylene 3%+ Zinc Oxide 2% lotion", "Octinoxate 7.5% + Avobenzone 3% + Oxybenzone 3% + Titanium dioxide 2% lotion"], "xref": ["UNII:4Y5P7MUD51"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:134751", "medic_application_numbers": ["021471|022009"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19921207", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:58dba4c1-bcf9-5c27-ae16-0e55cc1f3907", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(C(=O)CC(=O)c2ccc(C(C)(C)C)cc2)cc1", "name": "avobenzone", "provided_by": ["infores:medic"], "synonym": ["AVOBENZONE; ECAMSULE; OCTOCRYLENE", "AVOBENZONE; ECAMSULE; OCTOCRYLENE; TITANIUM DIOXIDE", "AVOBENZONE; OCTINOXATE; OXYBENZONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200522", "DrugCentral:4242", "PHAROS:Q93RBW2JTAV4", "PUBCHEM.COMPOUND:51040", "UNII:G63QQF2NOX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134760", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060825", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:da9168de-9eaf-5de3-974b-e6710cc792c8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000531"], "medic_reliability": "LOW", "name": "pentaerythritol", "provided_by": ["infores:medic"], "synonym": ["Thyme (herb)", "Чабреца трава"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134774", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["B02AA03"], "medic_earliest_approval_date": "19830804", "medic_mention_id": "MEDICNE:50885184-dddf-5232-9df9-f66ad680804a", "medic_registration_numbers": ["MOH_RUSSIA:83/914/1"], "medic_reliability": "MEDIUM", "medic_smiles": "NCc1ccc(C(=O)O)cc1", "name": "aminomethylbenzoic acid", "provided_by": ["infores:medic"], "synonym": ["Aminomethylbenzoic acid", "Аминометилбензойная кислота"], "xref": ["GTOPDB:4702", "PHAROS:674H44ZMBTJ8", "PUBCHEM.COMPOUND:65526"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134775", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:c039a102-7441-5d32-a25c-bd847beb13df", "medic_registration_numbers": ["MOH_RUSSIA:64/228/175"], "medic_reliability": "MEDIUM", "name": "hydroxymethylnicotinamide", "provided_by": ["infores:medic"], "synonym": ["Hydroxymethylnicotinamide", "Гидроксиметилникотинамид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134783", "medic_mention_id": "MEDICNE:6f77cba4-f826-57a6-ba74-7375d1e0ca40", "medic_reliability": "EXCLUDED", "name": "propylhexedrine", "provided_by": ["infores:medic"], "synonym": ["Propylhexedrine"], "xref": ["DRUGBANK:DB06714"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134806", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080314", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:46939276-01ed-5d12-98f5-cc4e1fb32468", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001559/08"], "medic_reliability": "MEDIUM", "name": "terpin", "provided_by": ["infores:medic"], "synonym": ["Caffeine + Paracetamol + Terpin hydrate + Phenylephrine + [Ascorbic acid]", "Кофеин+Парацетамол+Терпингидрат+Фенилэфрин+[Аскорбиновая кислота]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134813", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A04AD04", "A04AD54"], "medic_earliest_approval_date": "20100525", "medic_mention_id": "MEDICNE:d56ea1ff-cb2e-5fbd-bdbe-67579e68c1f4", "medic_registration_numbers": ["MOH_RUSSIA:П N016213/01"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)(O)C(Cl)(Cl)Cl", "name": "chlorobutanol", "provided_by": ["infores:medic"], "synonym": ["Chlorobutanol", "Хлоробутанол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134814", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19670711", "medic_mention_id": "MEDICNE:f22193a3-bb94-5953-b13a-8741b9ec2e03", "medic_registration_numbers": ["MOH_RUSSIA:67/554/62"], "medic_reliability": "LOW", "name": "nikethamide", "provided_by": ["infores:medic"], "synonym": ["Niketamide", "Никетамид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134832", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710527", "medic_mention_id": "MEDICNE:4401a4b3-4bfa-597b-8f2b-42572402044e", "medic_registration_numbers": ["MOH_RUSSIA:71/380/26"], "medic_reliability": "MEDIUM", "name": "aminitrozole", "provided_by": ["infores:medic"], "synonym": ["Aminitrozole", "Аминитрозол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134845", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:4b224157-2848-5935-8fce-39b07fc25dcc", "medic_reliability": "HIGH", "medic_smiles": "S=C=Nc1ccc(N=C=S)cc1", "name": "bitoscanate", "provided_by": ["infores:medic"], "synonym": ["Bitoscanate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134868", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:daa30195-ac8e-5492-a60e-38d839817cdd", "medic_reliability": "MEDIUM", "name": "pivhydrazine", "provided_by": ["infores:medic"], "synonym": ["Pivazide 50mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134876", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:c85b361e-4e6e-5a50-84f7-cc1b66e16378", "medic_registration_numbers": ["MOH_RUSSIA:64/228/63"], "medic_reliability": "LOW", "medic_smiles": "c1ccc(Cc2nc3ccccc3[nH]2)cc1", "name": "bendazol", "provided_by": ["infores:medic"], "synonym": ["Bendazole", "Бендазол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134888", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["M03BX30"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:6f689a18-b599-5b61-90d8-61f3c732afd1", "medic_reliability": "MEDIUM", "medic_smiles": "OC(CNc1ccccn1)c1ccccc1", "name": "fenyramidol", "provided_by": ["infores:medic"], "synonym": ["Phenyramidol HCl tablet 400mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134891", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:0536c238-b5fe-5d78-9e10-9f2bc8e08de2", "medic_reliability": "LOW", "name": "sulfacarbamide", "provided_by": ["infores:medic"], "synonym": ["Urosulfon"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134892", "medic_application_numbers": ["022555"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V04CX06"], "medic_earliest_approval_date": "20100528", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aa02ef70-bd8d-53e3-8f80-1bb7dbb7ee9b", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCOC(=O)CCC(=O)CN", "name": "5-aminolevulinic acid hexyl ester", "provided_by": ["infores:medic"], "synonym": ["HEXAMINOLEVULINATE HYDROCHLORIDE"], "xref": ["UNII:G7H20TKI67"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134893", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R01AA09"], "medic_earliest_approval_date": "20061020", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:2d2f7eec-edb7-56a2-b5af-b6fa731a687e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003632)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "c1cc2c(c(NC3=NCCN3)c1)CCCC2", "name": "tramazoline", "provided_by": ["infores:medic"], "synonym": ["Tramazoline", "Трамазолин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134914", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:878de483-57d0-5b0a-904f-147d64cd673c", "medic_reliability": "MEDIUM", "name": "morinamide", "provided_by": ["infores:medic"], "synonym": ["Morphazinamide Hcl. 0.5gm Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134923", "medic_application_numbers": ["009410"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05CA07"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c8e801c7-b363-57a8-b8d8-cb2ed538340a", "medic_reliability": "HIGH", "medic_smiles": "C=CCC1(C(C)CC)C(=O)NC(=O)NC1=O", "name": "talbutal", "provided_by": ["infores:medic"], "synonym": ["TALBUTAL"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200802", "DrugCentral:2556", "PHAROS:TYC5JWGGSD4Q", "PUBCHEM.COMPOUND:8275", "UNII:4YIR8202AX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134929", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["P01AB06"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:01de16fe-04e3-5495-89d7-d8c21dce4098", "medic_registration_numbers": ["MOH_RUSSIA:П N011956/01"], "medic_reliability": "HIGH", "medic_smiles": "O=[N+]([O-])c1cncn1CCN1CCOCC1", "name": "nimorazole", "provided_by": ["infores:medic"], "synonym": ["Nimorazol", "Nimorazole", "Nimorazole 250mg Tablet"], "xref": ["DRUGBANK:DB12172"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134936", "medic_application_numbers": ["021079"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19990924", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0c427842-1c6e-51f6-a6e1-ad0918038e0c", "medic_reliability": "HIGH", "name": "pemirolast", "provided_by": ["infores:medic"], "synonym": ["PEMIROLAST POTASSIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134938", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:0d35d7a8-fced-52d4-9fba-ab1cb5f60854", "medic_reliability": "MEDIUM", "medic_smiles": "O=C(O)/C=C/c1ccc(Cn2ccnc2)cc1", "name": "ozagrel", "provided_by": ["infores:medic"], "synonym": ["Ozagrel Hcl. Tablets 100mg/200mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL542549,CHEMBL11662", "DrugCentral:2043", "GTOPDB:9866", "PHAROS:NQ578NPPN22W", "PUBCHEM.COMPOUND:5282440,50987034", "UNII:L256JB984D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134949", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19791112", "medic_mention_id": "MEDICNE:4aa88315-ecef-5407-a9af-e404c0b65ab0", "medic_registration_numbers": ["MOH_RUSSIA:2000/200/1"], "medic_reliability": "LOW", "name": "hopantenic acid", "provided_by": ["infores:medic"], "synonym": ["Gopantenic acid", "Гопантеновая кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134962", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100511", "medic_mention_id": "MEDICNE:201f1f5b-f423-5a96-8e31-1ecf7f926b6c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008515"], "medic_reliability": "LOW", "name": "ambazone", "provided_by": ["infores:medic"], "synonym": ["Ambazon", "Амбазон"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134964", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20120810", "medic_mention_id": "MEDICNE:0237460f-9984-5ad4-b3c7-f28e47945e8e", "medic_reliability": "HIGH", "medic_smiles": "FC(F)(F)C(F)(F)C(F)(F)C(F)(F)F", "name": "perflubutane", "provided_by": ["infores:medic"], "synonym": ["PERFLUBUTANE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134966", "medic_application_numbers": ["021911|201367|204964|204988|204993|205075|205095|207363|211388|213410|213457|214009|214817|216549|216688|216841|217230"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N03AF03"], "medic_earliest_approval_date": "20070116", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cd1137bf-23fc-5f02-a2d6-4dd5eb6b8de4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002841"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)c1cn(Cc2c(F)cccc2F)nn1", "name": "rufinamide", "provided_by": ["infores:medic"], "synonym": ["RUFINAMIDE", "Rufinamide", "rufinamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201754", "DRUGBANK:DB06201", "DrugCentral:3534", "PHAROS:89D44GBLRPKK", "PUBCHEM.COMPOUND:129228", "UNII:WFW942PR79"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134968", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070420", "medic_mention_id": "MEDICNE:0fba4c69-72ff-5bc9-90b0-6ab9c1ca798e", "medic_registration_numbers": ["MOH_RUSSIA:П N008973"], "medic_reliability": "MEDIUM", "name": "pronilide", "provided_by": ["infores:medic"], "synonym": ["Acetylaminonitropropoxybenzene", "Ацетиламинонитропропоксибензол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134970", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:9b2120c5-b82f-5d85-9c61-6da87b1e9c03", "medic_reliability": "MEDIUM", "medic_smiles": "C=CCC1(CC(C)(C)C)C(=O)NC(=O)NC1=O", "name": "nealbarbital", "provided_by": ["infores:medic"], "synonym": ["Nealbarbitone 60mg/200mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:134990", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "india", "russia"], "medic_atc_codes": ["N06AX22"], "medic_earliest_approval_date": "20080211", "medic_mention_id": "MEDICNE:9f63e089-4854-5751-b39e-b0c75ed300a1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006884"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc2cccc(CCNC(C)=O)c2c1", "name": "agomelatine", "provided_by": ["infores:medic"], "synonym": ["Agomelatine", "Agomelatine Tablets", "Agomelatine Tablets 25mg", "agomelatine"], "xref": ["CHEMBL.COMPOUND:CHEMBL10878", "DRUGBANK:DB06594", "DrugCentral:99", "GTOPDB:198", "PHAROS:6PRP7G76BZ6N", "PUBCHEM.COMPOUND:82148", "UNII:137R1N49AD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:134991", "medic_application_numbers": ["021006|202931|204730|211292|213891|216998"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20011108", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dd340b58-e8df-5848-8952-85f6c65197b5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000390"], "medic_reliability": "HIGH", "name": "frovatriptan", "provided_by": ["infores:medic"], "synonym": ["FROVATRIPTAN SUCCINATE", "Frovatriptan"], "xref": ["CHEMBL.COMPOUND:CHEMBL1279", "DRUGBANK:DB00998", "DrugCentral:1251", "GTOPDB:7191", "PHAROS:651G8HLUVTLD", "PUBCHEM.COMPOUND:77992", "UNII:H82Q2D5WA7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135005", "medic_application_numbers": ["022256|205071|205081|205147"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "20060818", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:78b67b9c-adff-5fb2-bf74-b5b5a1d21563", "medic_registration_numbers": ["MOH_RUSSIA:П N011787/01"], "medic_reliability": "HIGH", "name": "milnacipran", "provided_by": ["infores:medic"], "synonym": ["MILNACIPRAN HYDROCHLORIDE", "Milnacipran", "Milnacipran 100mg (additional Strength)"], "xref": ["CHEMBL.COMPOUND:CHEMBL252923,CHEMBL259209", "DRUGBANK:DB04896", "DrugCentral:1808", "GTOPDB:7436", "PHAROS:V5WCGN16MG95", "PUBCHEM.COMPOUND:65833,11622909", "UNII:G56VK1HF36"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135010", "medic_mention_id": "MEDICNE:249a1390-952b-58aa-b35d-ed88db65de39", "medic_reliability": "EXCLUDED", "name": "enoximone", "provided_by": ["infores:medic"], "synonym": ["Enoximone"], "xref": ["DRUGBANK:DB04880", "GTOPDB:9063", "PHAROS:BXFCZ3HH3DUL", "PUBCHEM.COMPOUND:53708"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135013", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:2b0ebeb3-bb10-5c73-bf13-ad714f45ad78", "medic_registration_numbers": ["MOH_RUSSIA:64/228/259"], "medic_reliability": "MEDIUM", "name": "trimecaine", "provided_by": ["infores:medic"], "synonym": ["Trimecaine", "Тримекаин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135014", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["R05CB15"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:c1e14ce2-17f7-593d-bdca-4cb08c909443", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000990"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CSCC(=O)NC1CCSC1=O", "name": "erdosteine", "provided_by": ["infores:medic"], "synonym": ["Cifixime 200mg + Erdosteine 300mg Capsules", "Erdostein", "Erdosteine", "Эрдостеин"], "xref": ["DRUGBANK:DB05057"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135032", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:8ed7c9fb-88bb-50d1-9c31-3de039f46dc9", "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc2nc3cc(N)ccc3c(N)c2c1", "name": "ethacridine", "provided_by": ["infores:medic"], "synonym": ["Ethacridine Lactate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135042", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060414", "medic_mention_id": "MEDICNE:acda49dc-c352-5ee7-9fb4-3db72d636a51", "medic_registration_numbers": ["MOH_RUSSIA:П N014806/01"], "medic_reliability": "MEDIUM", "name": "tenonitrozole", "provided_by": ["infores:medic"], "synonym": ["Tenonitrozole", "Тенонитрозол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135102", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20060406", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:7877a61e-ddb5-5ffb-bceb-f28373c76c67", "medic_reliability": "LOW", "name": "isoxepac", "provided_by": ["infores:medic"], "synonym": ["Isoxepam Tablets", "依折麦布片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135108", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100618", "medic_mention_id": "MEDICNE:93243c46-85aa-5681-a5dd-0b92960cf52b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009054)-(РГ-RU)"], "medic_reliability": "LOW", "name": "moxastine", "provided_by": ["infores:medic"], "synonym": ["Moxastin+[Caffeine]", "Моксастин+[Кофеин]"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742465", "DrugCentral:1852", "PHAROS:DVADKVCCTNJ7", "PUBCHEM.COMPOUND:19142", "UNII:ZSJ254W6SF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135117", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:0618adb8-1a57-540e-8483-1f1d7243bbe3", "medic_registration_numbers": ["MOH_RUSSIA:64/228/285"], "medic_reliability": "MEDIUM", "name": "ftivazide", "provided_by": ["infores:medic"], "synonym": ["Fтивазид", "Фтивазид"], "xref": ["DrugCentral:1253", "PHAROS:LG2N9C43FBHG", "UNII:40Q4C3O4V0"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135134", "medic_application_numbers": ["022290|213637"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20080919", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:06c64a12-7806-58f2-89eb-3fa19da4255a", "medic_reliability": "HIGH", "name": "iobenguane (123I)", "provided_by": ["infores:medic"], "synonym": ["3- IODOBENZYLGUANIDINE (123I)", "IOBENGUANE SULFATE I-123"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135135", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A07AX02", "G01AB01", "P01CD02"], "medic_earliest_approval_date": "20051209", "medic_features": ["ANTIMICROBIAL", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c20dad69-12de-5470-8cfc-d274b639f1f9", "medic_registration_numbers": ["MOH_RUSSIA:П N011098"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)Nc1cc([As](=O)(O)O)ccc1O", "name": "acetarsol", "provided_by": ["infores:medic"], "synonym": ["Acetarsol", "Ацетарсол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135136", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A07AX03"], "medic_earliest_approval_date": "20060602", "medic_mention_id": "MEDICNE:cdac95d7-2b80-5b1d-97db-0c6418e46441", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001566"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C(N/N=C/c1ccc([N+](=O)[O-])o1)c1ccc(O)cc1", "name": "nifuroxazide", "provided_by": ["infores:medic"], "synonym": ["Nifuroxazide", "Нифуроксазид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135144", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:9acaddbf-607f-58e0-b661-a79f1a84d155", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003148"], "medic_reliability": "HIGH", "name": "mebhydrolin", "provided_by": ["infores:medic"], "synonym": ["Mebhydrolin", "Mebhydroline Napadisylate 50mg Tablet", "Мебгидролин"], "xref": ["CHEMBL.COMPOUND:CHEMBL1625607", "DrugCentral:1643", "PHAROS:SF5X27N58V7G", "PUBCHEM.COMPOUND:22530", "UNII:9SUK9B7XVY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135156", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20080716", "medic_mention_id": "MEDICNE:2a1797f5-930a-5795-93df-8b217b06649e", "medic_reliability": "HIGH", "medic_smiles": "Cn1cc(C(=O)[C@@H]2CCc3[nH]cnc3C2)c2ccccc21", "name": "ramosetron", "provided_by": ["infores:medic"], "synonym": ["RAMOSETRON HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1643895", "DrugCentral:2357", "GTOPDB:2301", "PHAROS:GKLYJGSCC1TX", "PUBCHEM.COMPOUND:108000", "UNII:7ZRO0SC54Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135163", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["D06BB02", "J05AC03"], "medic_earliest_approval_date": "19950223", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:0f61e699-18f6-5e0f-8dd8-387bc9a932f5", "medic_registration_numbers": ["MOH_RUSSIA:П N015098/01"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)CCOCC(=O)NC12CC3CC(CC(C3)C1)C2", "name": "tromantadine", "provided_by": ["infores:medic"], "synonym": ["Tromantadine", "Tromantadine Hcl 1gm Ointment", "Тромантадин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135173", "medic_atc_codes": ["B05CA05"], "medic_mention_id": "MEDICNE:b56e0066-9f62-5982-bdec-68f9c958be18", "medic_reliability": "EXCLUDED", "medic_smiles": "O=S1(=O)CCN(CN2CCS(=O)(=O)NC2)CN1", "name": "taurolidine", "provided_by": ["infores:medic"], "synonym": ["Taurolidine"], "xref": ["DRUGBANK:DB12473", "UNII:8OBZ1M4V3V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135180", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G01AX05"], "medic_earliest_approval_date": "20090831", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c8e744ad-477b-5154-bf92-3a5c0248eeef", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006157"], "medic_reliability": "MEDIUM", "medic_smiles": "CSCC1CN(/N=C/c2ccc([N+](=O)[O-])o2)C(=O)O1", "name": "nifuratel", "provided_by": ["infores:medic"], "synonym": ["Nifuratel", "Нифурател"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135193", "medic_application_numbers": ["022244"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20081212", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9fb6015a-3ca9-5006-ad9f-4374993da5d6", "medic_reliability": "HIGH", "medic_smiles": "CC(C)c1cccc(C(C)C)c1OCOP(=O)(O)O", "name": "fospropofol", "provided_by": ["infores:medic"], "synonym": ["FOSPROPOFOL DISODIUM"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201766", "DrugCentral:3249", "PHAROS:RFR34A3YB8AL", "PUBCHEM.COMPOUND:3038498", "UNII:LZ257RZP7K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135207", "medic_mention_id": "MEDICNE:ccd5f4bc-282c-587d-983f-4cd1b86b9329", "medic_reliability": "EXCLUDED", "name": "clofedanol", "provided_by": ["infores:medic"], "synonym": ["Clofedanol"], "xref": ["DRUGBANK:DB04837"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135230", "medic_application_numbers": ["017569"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c4be9116-3170-5eb1-8032-ff14cddbbfe5", "medic_reliability": "HIGH", "medic_smiles": "CCn1ccc(NS(=O)(=O)c2ccc(N)cc2)nc1=O", "name": "sulfacytine", "provided_by": ["infores:medic"], "synonym": ["SULFACYTINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135239", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231110", "medic_mention_id": "MEDICNE:be4fb199-ca3f-52d4-b331-f71a435fc84e", "medic_reliability": "MEDIUM", "name": "indobufen", "provided_by": ["infores:medic"], "synonym": ["Indobufen Tablets", "吲哚布芬片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135272", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N05BX03"], "medic_earliest_approval_date": "20080701", "medic_mention_id": "MEDICNE:58f568f1-7bc2-534f-bc1a-86ddf1696975", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008626)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCNC1=Nc2ccc(Cl)cc2C(C)(c2ccccc2)O1", "name": "etifoxine", "provided_by": ["infores:medic"], "synonym": ["Etifoxin", "Etifoxine Hydrochloride Bulk drug & Etifoxine Hydrochloride capsules 50 mg", "Этифоксин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135276", "medic_application_numbers": ["040109|040316|040637|040688|040701|088584|089166|204209|204785"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19830906", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a70b3010-068b-5c64-8fc1-4c0b16d9821a", "medic_reliability": "HIGH", "name": "dihydrocodeine", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; CAFFEINE; DIHYDROCODEINE BITARTRATE", "ASPIRIN; CAFFEINE; DIHYDROCODEINE BITARTRATE", "Dihydrocodeine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1595", "DRUGBANK:DB01551", "DrugCentral:886", "PHAROS:MFVFSNLAJPJG", "PUBCHEM.COMPOUND:5284543", "UNII:N9I9HDB855"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135278", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["J04AK03"], "medic_earliest_approval_date": "19810101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:422284be-8caa-5a4c-9a06-784c7742b0ff", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000305"], "medic_reliability": "HIGH", "medic_smiles": "O=C1NOCC1/N=C/c1ccc(/C=N/C2CONC2=O)cc1", "name": "terizidone", "provided_by": ["infores:medic"], "synonym": ["Terizidone", "Terizidone+[Pyridoxine]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135283", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:29099b95-e46a-5255-90de-e50c2c70d79f", "medic_reliability": "MEDIUM", "name": "methenolone", "provided_by": ["infores:medic"], "synonym": ["Methenolone 1mg/5mg Tablet & Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135285", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia"], "medic_atc_codes": ["A10BH02"], "medic_earliest_approval_date": "20070925", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:4bc0d7c5-a66b-5077-9ce6-61a99a91087c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005958"], "medic_reliability": "HIGH", "medic_smiles": "N#C[C@@H]1CCCN1C(=O)CNC12CC3CC(CC(O)(C3)C1)C2", "name": "vildagliptin", "provided_by": ["infores:medic"], "synonym": ["VILDAGLIPTIN", "Vildagliptin", "Vildagliptin 50mg/50mg/50mg + Metformin Hcl 500mg +850mg +1000mg tablets", "Vildagliptin Tablets 50mg/100mg", "vildagliptin", "vildagliptin;metformin", "vildagliptin;metformin hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL142703", "DRUGBANK:DB04876", "DrugCentral:3642", "GTOPDB:6310", "PHAROS:MH3JKA14R6ND", "PUBCHEM.COMPOUND:6918537", "UNII:I6B4B2U96P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135293", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["G03BB01"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:945e5106-331c-52aa-b466-31d0df705964", "medic_reliability": "MEDIUM", "medic_smiles": "C[C@H]1CC(=O)C[C@@H]2CC[C@H]3[C@@H]4CC[C@H](O)[C@@]4(C)CC[C@@H]3[C@]21C", "name": "mesterolone", "provided_by": ["infores:medic"], "synonym": ["Mesterolone 10mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL258918", "DrugCentral:3342", "PHAROS:VVVNBNG9NSZB", "PUBCHEM.COMPOUND:15020", "UNII:0SRQ75X9I9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135303", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A03AX14"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:4368ed77-7565-5c98-8944-3895d37a8d58", "medic_reliability": "HIGH", "medic_smiles": "CCC(C)C(C(=O)OCC[N+](C)(CC)CC)c1ccccc1", "name": "valethamate", "provided_by": ["infores:medic"], "synonym": ["Valethamate Bromide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135309", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051223", "medic_mention_id": "MEDICNE:2dfefd67-ce32-5e2a-8f11-f2fd7e2e3e6e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006555"], "medic_reliability": "MEDIUM", "name": "fabomotizole", "provided_by": ["infores:medic"], "synonym": ["Afobazol®", "Fabomotizole", "Фабомотизол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135310", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R05DB13"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:38a7c423-f276-53df-9c36-229b04e23114", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001808"], "medic_reliability": "MEDIUM", "medic_smiles": "CCC(C(=O)OCCOCCN(CC)CC)c1ccccc1", "name": "butamirate", "provided_by": ["infores:medic"], "synonym": ["Butamirate", "butamirate citrate", "бутамирата цитрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135314", "medic_application_numbers": ["019693"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891229", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1c844587-8788-5a14-b3b1-8926798c1bfc", "medic_reliability": "HIGH", "name": "indecainide", "provided_by": ["infores:medic"], "synonym": ["INDECAINIDE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201242", "DrugCentral:1434", "PHAROS:G54RKLZN1ZYS", "PUBCHEM.COMPOUND:52195", "UNII:3AZF20DM1T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135323", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081031", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:5dea60a7-0198-5249-b338-eb4bb5b8a490", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002337"], "medic_reliability": "MEDIUM", "medic_smiles": "C#C[C@]1(O)C=C[C@H]2[C@@H]3CCC4=CC(=O)CC[C@@H]4[C@H]3CC[C@@]21CC", "name": "gestodene", "provided_by": ["infores:medic"], "synonym": ["Gestodene", "Gestodene + Ethinylestradiol", "Гестоден+Этинилэстрадиол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135333", "medic_mention_id": "MEDICNE:126b2e29-2436-59d4-9148-ece5d2cc7cc4", "medic_reliability": "EXCLUDED", "name": "lodoxamide", "provided_by": ["infores:medic"], "synonym": ["Lodoxamide"], "xref": ["DRUGBANK:DB06794", "DrugCentral:3325", "GTOPDB:9743", "PHAROS:LW979CKK6W71", "PUBCHEM.COMPOUND:44564", "UNII:SPU695OD73"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135335", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20101203", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:03419105-b12b-59d8-b7b2-2fc87452a2a6", "medic_reliability": "MEDIUM", "name": "artemotil", "provided_by": ["infores:medic"], "synonym": ["Arteether injection 150mg/mL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135340", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["N02BA10"], "medic_earliest_approval_date": "19710101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:48e7c202-7827-5a7b-a7e2-1674870982f7", "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)Nc1ccc(OC(=O)c2ccccc2OC(C)=O)cc1", "name": "benorilate", "provided_by": ["infores:medic"], "synonym": ["Benorylate 250mg Tablet", "Benorylate 2gm/5ml Suspension"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135342", "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_mention_id": "MEDICNE:2718bc45-ad4c-5829-80e6-4bf4ff83bc0b", "medic_reliability": "EXCLUDED", "medic_smiles": "CCOc1ccccc1O[C@H](c1ccccc1)[C@H]1CNCCO1", "name": "reboxetine", "provided_by": ["infores:medic"], "synonym": ["Reboxetine"], "xref": ["CHEMBL.COMPOUND:CHEMBL383921", "DRUGBANK:DB00234", "PHAROS:C7VKFVTWLVPU", "PUBCHEM.COMPOUND:127151"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135343", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C01DX03", "C01DX53"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:50a9318a-c045-51c9-a407-7dee766e43dd", "medic_reliability": "HIGH", "medic_smiles": "COc1cccc(C(=O)CCN[C@@H](C)[C@H](O)c2ccccc2)c1", "name": "oxyfedrine", "provided_by": ["infores:medic"], "synonym": ["Oxyfedrine", "Oxyfedrine (8mg) Tablet, (10mg) Solution, (2mg/ml) Injection", "Oxyfedrine 24mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135349", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20090223", "medic_mention_id": "MEDICNE:28531808-d4c9-5e21-8b2d-a5ba02b79c5e", "medic_reliability": "HIGH", "name": "mitiglinide", "provided_by": ["infores:medic"], "synonym": ["MITIGLINIDE CALCIUM HYDRATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL471498", "DrugCentral:1818", "PHAROS:49LNRQ7J73C6", "PUBCHEM.COMPOUND:121891", "UNII:D86I0XLB13"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135351", "medic_application_numbers": ["021829"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N04BC09"], "medic_earliest_approval_date": "20060215", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0a1fd4ea-3fb0-5d09-b592-b975eebea4a3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001489"], "medic_reliability": "HIGH", "medic_smiles": "CCCN(CCc1cccs1)[C@H]1CCc2c(O)cccc2C1", "name": "rotigotine", "provided_by": ["infores:medic"], "synonym": ["ROTIGOTINE", "Rotigotin", "Rotigotine", "rotigotine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1303", "DRUGBANK:DB05271", "DrugCentral:2407", "GTOPDB:941", "PHAROS:ZKLCX3YBDKCX", "PUBCHEM.COMPOUND:59227", "UNII:87T4T8BO2E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135361", "medic_application_numbers": ["008848|040624|040642|080970|200602|216786"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:865fb6dc-e871-53e0-91ec-e7d0d0a343b9", "medic_reliability": "HIGH", "name": "methscopolamine", "provided_by": ["infores:medic"], "synonym": ["METHSCOPOLAMINE BROMIDE", "Methscopolamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201268,CHEMBL376897", "DRUGBANK:DB11315", "DrugCentral:1757", "PHAROS:KZCZ87ZR2NPP", "UNII:VDR09VTQ8U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135372", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:1a338898-93f1-5563-969c-2dcf58bfbaaa", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@H]3[C@@H](CCC4=C(Cl)C(=O)CC[C@@]43C)[C@@H]1CC[C@@H]2O", "name": "clostebol", "provided_by": ["infores:medic"], "synonym": ["Clostebol Acetate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135381", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["L01AA07"], "medic_earliest_approval_date": "19710101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:8a9a2721-d48b-50db-a5e4-4c66ca7e6115", "medic_reliability": "HIGH", "medic_smiles": "O=P1(N(CCCl)CCCl)OCCCN1CCCl", "name": "trofosfamide", "provided_by": ["infores:medic"], "synonym": ["Trofosfamide", "Trofosfamide 50mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135398", "medic_application_numbers": ["021180|200910|213950|213977|214594"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20011120", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:247a237e-6819-5de6-9e45-17dac189f207", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005123)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "norelgestromin", "provided_by": ["infores:medic"], "synonym": ["ETHINYL ESTRADIOL; NORELGESTROMIN", "Norelgestromin + Ethinylestradiol", "norelgestromin;ethinyl estradiol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200807", "DrugCentral:1959", "PHAROS:45X6FQXL773U", "PUBCHEM.COMPOUND:9568628", "UNII:R0TAY3X631"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135413", "medic_application_numbers": ["083459"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ca1ea786-2e4a-5b2e-b957-14f1dcf9e3f9", "medic_reliability": "HIGH", "medic_smiles": "CC(Cc1ccc2c(c1)OCO2)NCC(O)c1ccc(O)c(O)c1", "name": "protokylol", "provided_by": ["infores:medic"], "synonym": ["PROTOKYLOL HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201273", "DrugCentral:2318", "PHAROS:114QK6SKCQVA", "PUBCHEM.COMPOUND:4969", "UNII:8Y5Y4EEO2V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135448", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:86809d6e-8e9c-57a3-bf43-802e2f693daa", "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)CCCN1C(=O)c2cc([N+](=O)[O-])ccc2Oc2ccccc21", "name": "nitroxazepine", "provided_by": ["infores:medic"], "synonym": ["Nitroxazepine Hydrochloride 25mg Tablet", "Nitroxazepine Hydrochloride 25mg/2ml Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135472", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:bd556582-2217-537d-a3d0-f34ff128ea77", "medic_reliability": "LOW", "name": "embramine", "provided_by": ["infores:medic"], "synonym": ["Mebrophen Hydramine", "Mebrophen Hydramine 25mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135499", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C03BA10"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:037e5bc0-59ed-5bc2-a9a0-28534a6fdec6", "medic_reliability": "HIGH", "medic_smiles": "Cc1cccc(C)c1NC(=O)c1cc(S(N)(=O)=O)c(Cl)cc1O", "name": "xipamide", "provided_by": ["infores:medic"], "synonym": ["Xipamide", "Xipamide 40mg Tablet"], "xref": ["DRUGBANK:DB13803"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135506", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090303", "medic_mention_id": "MEDICNE:5ddbffe3-1027-5c88-a3fd-d17971bc3f00", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002363"], "medic_reliability": "LOW", "name": "quinestradol", "provided_by": ["infores:medic"], "synonym": ["Pentovit", "Пентовит"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135515", "medic_application_numbers": ["022249|204104|204230|205376|205447|205574|205580|206554|208194|211001|211530|212209|214739|215033|216078|219014"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20080320", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:685a51fb-40f3-5a88-a054-2a2405329a0b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005075"], "medic_reliability": "HIGH", "medic_smiles": "Cl.Cn1c(CCCC(=O)O)nc2cc(N(CCCl)CCCl)ccc21", "name": "bendamustine", "provided_by": ["infores:medic"], "synonym": ["BENDAMUSTINE HYDROCHLORIDE", "Bendamustine"], "xref": ["DRUGBANK:DB06769", "UNII:9266D9P3PQ"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:135526", "medic_stub": true, "name": "octocrylene", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135527", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["R05DB18"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:2725f3e3-f9a7-5afa-8a07-d94b30d10257", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007828)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "c1ccc(C(Cc2noc(CCN3CCCCC3)n2)c2ccccc2)cc1", "name": "prenoxdiazine", "provided_by": ["infores:medic"], "synonym": ["Prenoxdiazine", "Prenoxdiazine Hcl 100mg Tablet", "Преноксдиазин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135530", "medic_application_numbers": ["021518|091464|202551|204374|205483|205484|205575|206817|207477|207721|209239|209333|209424|209529|209719|209818|209839|210224|210281|210582|210688|211423|211622|211657|211701|212214|213346|215761"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20041119", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6820b880-2931-52ca-94c8-2a0242fc9487", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005382"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CCC(=O)O.O=C(O[C@H]1CN2CCC1CC2)N1CCc2ccccc2[C@@H]1c1ccccc1", "name": "solifenacin", "provided_by": ["infores:medic"], "synonym": ["SOLIFENACIN SUCCINATE", "Solifenacin", "Solifenacin + Tamsulosin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1734,CHEMBL1200803", "DRUGBANK:DB01591", "DrugCentral:2457", "GTOPDB:7483", "PHAROS:Q1WMDTJ5M4KW", "PUBCHEM.COMPOUND:154059,216457", "UNII:A8910SQJ1U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135534", "medic_application_numbers": ["011914"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d2e8e0c7-fec8-5dec-8862-7d5307f538ee", "medic_reliability": "HIGH", "name": "lapyrium chloride", "provided_by": ["infores:medic"], "synonym": ["LAPYRIUM CHLORIDE; UNDECOYLIUM CHLORIDE IODINE COMPLEX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135537", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060804", "medic_mention_id": "MEDICNE:ecd94ed6-2b65-52ec-a610-0440aa3da02d", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001853"], "medic_reliability": "MEDIUM", "name": "benzoxonium chloride", "provided_by": ["infores:medic"], "synonym": ["Benzoxonium Chloride + Lidocaine", "Бензоксония хлорид+Лидокаин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135538", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N02BB04", "N02BB54", "N02BB74"], "medic_earliest_approval_date": "20060317", "medic_mention_id": "MEDICNE:ea720854-8656-5cd1-83c2-4b97f2115f3e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001021"], "medic_reliability": "MEDIUM", "medic_smiles": "Cc1c(C(C)C)c(=O)n(-c2ccccc2)n1C", "name": "propyphenazone", "provided_by": ["infores:medic"], "synonym": ["Caffeine + Paracetamol + Propyphenazone", "Codeine + Caffeine + Paracetamol + Propyphenazone", "Propifenazone", "Кофеин+Парацетамол+Пропифеназон"], "xref": ["CHEMBL.COMPOUND:CHEMBL28318", "DrugCentral:2309", "PHAROS:5ZRND8GCS7SV", "PUBCHEM.COMPOUND:3778", "UNII:OED8FV75PY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135544", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A02BC11"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:a82d7f63-7701-5c69-b14e-829fbb745ac9", "medic_reliability": "MEDIUM", "medic_smiles": "COc1ccnc(C[S+]([O-])c2nc3cc(-n4cccc4)ccc3[nH]2)c1C", "name": "ilaprazole", "provided_by": ["infores:medic"], "synonym": ["Ilaprazole Tablets 5mg/10mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL2106370", "DrugCentral:3961", "PHAROS:TFWV7ZF24PHK", "PUBCHEM.COMPOUND:214351", "UNII:776Q6XX45J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135547", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060428", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:bda1cfe4-861c-5ae7-8536-b0fbeb2e8651", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003270"], "medic_reliability": "MEDIUM", "medic_smiles": "COC(=O)c1ccccc1C(=O)c1ccc(OCCN2CCCCC2)cc1", "name": "pitofenone", "provided_by": ["infores:medic"], "synonym": ["Ibuprofen + Pitofenone + Fenpiverinium Bromide", "Pitofenone", "Ибупрофен+Питофенон+Фенпивериния бромид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135552", "medic_application_numbers": ["210166|217662|218056|218177|218295|218492|218778|218795|218812|218847|218963|218977|219071|219078|219160|219193|219216|219220"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_atc_codes": ["A06AX05"], "medic_earliest_approval_date": "20091014", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a36ed708-26af-5c1e-819e-b0d9dd1c07ac", "medic_reliability": "HIGH", "medic_smiles": "COCCCN1CCC(NC(=O)c2cc(Cl)c(N)c3c2OCC3)CC1", "name": "prucalopride", "provided_by": ["infores:medic"], "synonym": ["PRUCALOPRIDE SUCCINATE", "Prucalopride", "Prucalopride 1mg/2mg", "Tablet & Bulk (Prucalopride", "prucalopride"], "xref": ["CHEMBL.COMPOUND:CHEMBL117287", "DRUGBANK:DB06480", "DrugCentral:3502", "PHAROS:P654KZGW7U5W", "PUBCHEM.COMPOUND:3052762", "UNII:0A09IUW5TP"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135554", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N06BX02"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:df16acf3-a6bb-5c35-a8e4-6bfbc07da29d", "medic_registration_numbers": ["MOH_RUSSIA:П N013412/01"], "medic_reliability": "MEDIUM", "medic_smiles": "Cc1ncc(CSSCc2cnc(C)c(O)c2CO)c(CO)c1O", "name": "pyritinol", "provided_by": ["infores:medic"], "synonym": ["Pyrithinol", "Pyritinol Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135566", "medic_application_numbers": ["020474"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["H02AB12", "S01BA13"], "medic_earliest_approval_date": "19941230", "medic_features": ["STEROID"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d5b79496-ed37-5c78-bdd4-60473af15624", "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)[C@@]1(C)[C@H](C)C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@H]3[C@@H](O)C[C@@]21C", "name": "rimexolone", "provided_by": ["infores:medic"], "synonym": ["RIMEXOLONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200617", "DrugCentral:2384", "PHAROS:X9WWGTWZKQKH", "PUBCHEM.COMPOUND:5311412", "UNII:O7M2E4264D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135573", "medic_application_numbers": ["016053"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["H02AB15"], "medic_earliest_approval_date": "19820101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c86aead9-eef7-58be-bb82-66ab8cb5f009", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@H]3C(=O)C[C@]2(C)[C@@]1(O)C(=O)CO", "name": "meprednisone", "provided_by": ["infores:medic"], "synonym": ["MEPREDNISONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201148", "DrugCentral:1702", "PHAROS:XP5654GLH4MS", "PUBCHEM.COMPOUND:5284587", "UNII:67U96J8P35"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135574", "medic_application_numbers": ["018677"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19851226", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a793871f-b703-5269-8a0a-0d328dabfc6e", "medic_reliability": "HIGH", "name": "nabilone", "provided_by": ["infores:medic"], "synonym": ["NABILONE", "Nabilone"], "xref": ["CHEMBL.COMPOUND:CHEMBL947,CHEMBL2218896", "DRUGBANK:DB00486", "DrugCentral:1862", "GTOPDB:9071", "PHAROS:LNU79R715U7P", "PUBCHEM.COMPOUND:5284592,39860", "UNII:2N4O9L084N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135581", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C05AA08", "D07AC05", "D07XC05", "H02AB03"], "medic_earliest_approval_date": "20081121", "medic_features": ["STEROID", "CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:3910338d-24fc-5fcf-a72e-678df5af29bc", "medic_registration_numbers": ["MOH_RUSSIA:П N014591/01"], "medic_reliability": "MEDIUM", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C=C[C@]4(C)[C@H]3[C@@H](O)C[C@]2(C)[C@H]1C(=O)CO", "name": "fluocortolone", "provided_by": ["infores:medic"], "synonym": ["Ultraproct", "Ультрапрокт"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135590", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["R02AD05", "R05CB06"], "medic_earliest_approval_date": "20060210", "medic_mention_id": "MEDICNE:c1e411c8-d939-5b0a-b56b-3e915d64678f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000523"], "medic_reliability": "HIGH", "medic_smiles": "Nc1c(Br)cc(Br)cc1CN[C@H]1CC[C@H](O)CC1", "name": "ambroxol", "provided_by": ["infores:medic"], "synonym": ["Ambroxol", "Ambroxol + loratadine + Guaifenesin Syrup (30mg + 5mg + 50mg per 5ml)", "Ambroxol 30mg + Levo salbutamol 1mg+ Guiphenesin 50mg /5ml syrup", "Cetrizine 10 mg + Ambroxol 75 mg SR Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL153479", "DRUGBANK:DB06742", "DrugCentral:147", "PHAROS:A3KGNKUQTWCV", "UNII:200168S0CL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135593", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20100315", "medic_mention_id": "MEDICNE:1e8072f0-c596-5199-ad1b-7a22b874eeff", "medic_reliability": "LOW", "name": "ecabet", "provided_by": ["infores:medic"], "synonym": ["Icabet Sodium Granules", "依卡倍特钠颗粒"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135598", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090324", "medic_mention_id": "MEDICNE:831533ce-18b9-5173-b1e0-b0855b31aacd", "medic_registration_numbers": ["MOH_RUSSIA:П N015452/01"], "medic_reliability": "MEDIUM", "name": "tetrofosmin", "provided_by": ["infores:medic"], "synonym": ["Tetrophosmin", "Тетрофосмин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135601", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20180116", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:29940bfc-d5e2-5053-b7ae-0487696e3178", "medic_reliability": "MEDIUM", "name": "denaverine", "provided_by": ["infores:medic"], "synonym": ["Denaverine Hydrochloride Injection (Vet.)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135608", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080325", "medic_mention_id": "MEDICNE:c642daf1-5617-5202-b934-548b451cc2c0", "medic_registration_numbers": ["MOH_RUSSIA:Р N001011/01"], "medic_reliability": "MEDIUM", "name": "mebrofenin", "provided_by": ["infores:medic"], "synonym": ["Mebrofenin", "Меброфенин"], "xref": ["UNII:7PV0B6ED98"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135612", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["R03AC15", "R03CC14"], "medic_earliest_approval_date": "19810101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:447349ad-d177-5c11-8f35-0ee6d0b71ac8", "medic_reliability": "HIGH", "medic_smiles": "Cn1c(=O)c2c(ncn2CCCNCC(O)c2cc(O)cc(O)c2)n(C)c1=O", "name": "reproterol", "provided_by": ["infores:medic"], "synonym": ["Reproterol Hcl 0.09mg/ml Injection", "Reproterol Hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL1095607", "DrugCentral:2368", "PHAROS:L6VSKDS4GY4P", "PUBCHEM.COMPOUND:25654", "UNII:11941YC6RN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135613", "medic_application_numbers": ["022161|207320|207604|212806|213210|213236|213856|214252|214349|215827|215955|216437|217455|218054"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20080410", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c91b4234-0da1-54ea-b2f9-0619d8cd97a3", "medic_reliability": "HIGH", "medic_smiles": "CNC(=O)c1cnn(-c2nc(N)c3ncn([C@@H]4O[C@H](CO)[C@@H](O)[C@H]4O)c3n2)c1", "name": "regadenoson", "provided_by": ["infores:medic"], "synonym": ["REGADENOSON", "regadenoson"], "xref": ["CHEMBL.COMPOUND:CHEMBL3989695", "DrugCentral:2362", "GTOPDB:5596", "PHAROS:ZWG9SA3JUZMW", "PUBCHEM.COMPOUND:44154280,219024", "UNII:7AXV542LZ4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135615", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:e1854b20-d81c-5bb3-808c-4cdc0d209c35", "medic_reliability": "MEDIUM", "name": "biriperone", "provided_by": ["infores:medic"], "synonym": ["Centbutindole (Bulk)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135616", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:891f63ed-506a-5f33-9d61-7eb5ef78136c", "medic_reliability": "MEDIUM", "name": "dimetotiazine", "provided_by": ["infores:medic"], "synonym": ["Dimethothiazine 20mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135622", "medic_application_numbers": ["022308"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["S01AE08"], "medic_earliest_approval_date": "20090528", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3ed24130-4c62-56c2-9a1b-8f34d9ddb1cf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005333)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "N[C@@H]1CCCCN(c2c(F)cc3c(=O)c(C(=O)O)cn(C4CC4)c3c2Cl)C1", "name": "besifloxacin", "provided_by": ["infores:medic"], "synonym": ["BESIFLOXACIN HYDROCHLORIDE", "Besifloxacin", "Besifloxacin Ophthalmic Suspension 0.6% w/v", "Bezifloxacin"], "xref": ["DRUGBANK:DB06771", "UNII:BFE2NBZ7NX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135626", "medic_mention_id": "MEDICNE:ff9a7a7a-a272-5bca-a4e9-bddcf890848a", "medic_reliability": "EXCLUDED", "name": "gemeprost", "provided_by": ["infores:medic"], "synonym": ["Gemeprost"], "xref": ["DRUGBANK:DB08964"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135627", "medic_mention_id": "MEDICNE:c9a68392-09e0-5d19-8a04-da463bd0bc6e", "medic_reliability": "EXCLUDED", "name": "quinagolide", "provided_by": ["infores:medic"], "synonym": ["Quinagolide"], "xref": ["DRUGBANK:DB09097"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135630", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["A03AD02"], "medic_earliest_approval_date": "20050729", "medic_mention_id": "MEDICNE:d6aede8c-5809-5ac5-bb65-4cf1a709a78b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000697"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc(/C=C2\\NCCc3cc(OCC)c(OCC)cc32)cc1OCC", "name": "drotaverine", "provided_by": ["infores:medic"], "synonym": ["Drotaverine", "Drotaverine + Aceclofenac (80mg + 100mg) Tablets", "Drotaverine + Caffeine + Naproxen + Paracetamol + Pheniramine", "Drotaverine + Ibuprofen", "Drotaverine + Paracetamol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135642", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A03FA08"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:2bb405bb-d97a-5259-a5e1-66f0a33b7b86", "medic_reliability": "MEDIUM", "medic_smiles": "CCOc1cc(N)c([N+](=O)[O-])cc1C(=O)NC1CCN(CC2CC=CCC2)CC1", "name": "cinitapride", "provided_by": ["infores:medic"], "synonym": ["Cinitapride (as hydrogen tartrate) 1mg tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135652", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["N07CA03"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:93bfb271-5455-5bdc-810f-0a82f661eb3a", "medic_reliability": "HIGH", "medic_smiles": "Fc1ccc(C(c2ccc(F)cc2)N2CCN(C/C=C/c3ccccc3)CC2)cc1", "name": "flunarizine", "provided_by": ["infores:medic"], "synonym": ["Flunarizine", "Flunarizine Hcl 5mg/10mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL30008", "DRUGBANK:DB04841", "DrugCentral:1200", "PHAROS:FH1AY465SJH3", "PUBCHEM.COMPOUND:941361", "UNII:R7PLA2DM0J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135654", "medic_atc_codes": ["C09AA16"], "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:50b0d4d0-f8d3-5676-a30a-66dcc4c83141", "medic_reliability": "EXCLUDED", "medic_smiles": "CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1C(=O)N(C)C[C@H]1C(=O)O", "name": "imidapril", "provided_by": ["infores:medic"], "synonym": ["Imidapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL317094", "DRUGBANK:DB11783", "DrugCentral:1424", "PHAROS:PWQ33AXH5MFW", "PUBCHEM.COMPOUND:40466903", "UNII:BW7H1TJS22"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135662", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["N05AD02"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:4cf362ab-d072-586b-bfed-7eddfae59e5f", "medic_reliability": "MEDIUM", "medic_smiles": "O=C(CCCN1CCC(O)(c2cccc(C(F)(F)F)c2)CC1)c1ccc(F)cc1", "name": "trifluperidol", "provided_by": ["infores:medic"], "synonym": ["Trifluperidol Hcl 0.25mg/0.5mg Tablet", "Trifluperidol Hcl 1mg/ml Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL15023", "DrugCentral:2741", "PHAROS:KQD1ZQX79TF5", "PUBCHEM.COMPOUND:5567", "UNII:R8869Q7R8I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135673", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["R06AX28"], "medic_earliest_approval_date": "20111018", "medic_mention_id": "MEDICNE:103f64de-d333-5980-95d2-32034f68af4b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000960"], "medic_reliability": "HIGH", "medic_smiles": "Cc1cncc(CN2CCC(=C3c4ccc(Cl)cc4CCc4cccnc43)CC2)c1", "name": "rupatadine", "provided_by": ["infores:medic"], "synonym": ["RUPATADINE FUMARATE", "Rupatadine"], "xref": ["CHEMBL.COMPOUND:CHEMBL91397", "DRUGBANK:DB11614", "DrugCentral:2413", "GTOPDB:10103", "PHAROS:F9AYB5KBYU5V", "PUBCHEM.COMPOUND:133017", "UNII:2AE8M83G3E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135678", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20080101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:99b6f240-a43e-55cf-927a-a7a93c0c71f6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001588"], "medic_reliability": "HIGH", "name": "amtolmetin guacil", "provided_by": ["infores:medic"], "synonym": ["Amtolmetin Guacil tablets 600mg", "Amtolmetin guacil", "Амтолметин гуацил"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135679", "medic_application_numbers": ["020219"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19931110", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2d1d5358-c1d3-5025-82ae-e3c298a92a7b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005081)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "levocabastine", "provided_by": ["infores:medic"], "synonym": ["LEVOCABASTINE HYDROCHLORIDE", "Levocabastine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1615438", "DrugCentral:1564", "GTOPDB:1586", "PHAROS:WHYTQSA82CSQ", "PUBCHEM.COMPOUND:54385"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135686", "medic_application_numbers": ["021775|208295|216843|217753"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A06AH02"], "medic_earliest_approval_date": "20080520", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ee8c30db-942a-5cbc-a17d-3e7e2d381218", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1CN(C[C@H](Cc2ccccc2)C(=O)NCC(=O)O)CC[C@@]1(C)c1cccc(O)c1", "name": "alvimopan", "provided_by": ["infores:medic"], "synonym": ["ALVIMOPAN", "Alvimopan"], "xref": ["CHEMBL.COMPOUND:CHEMBL270190", "DRUGBANK:DB06274", "DrugCentral:143", "GTOPDB:7471", "PHAROS:KN3BKG2Q1YWS", "PUBCHEM.COMPOUND:5488548", "UNII:Q153V49P3Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135700", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b200e18b-3644-5397-837b-5db850f4872c", "medic_reliability": "LOW", "name": "fluprednidene acetate", "provided_by": ["infores:medic"], "synonym": ["Fluprednylidene-21-Acetate", "Fluprednylidene-21-Acetate 0.1mg/100gm Cream"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135720", "medic_application_numbers": ["208684|208685|216720|216992|217123|217173|217741|217813|219254|219417|219930|220042"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["H02AB13"], "medic_earliest_approval_date": "20070101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f43f759f-8193-5467-8708-aa2fe3c35d8d", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC(=O)[C@@]12N=C(C)O[C@@H]1C[C@H]1[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@H]3[C@@H](O)C[C@@]12C", "name": "deflazacort", "provided_by": ["infores:medic"], "synonym": ["DEFLAZACORT", "Deflazacort", "Deflazacort Oral Suspension (6mg/5ml) (New dosage form)", "Deflazocort 24mg tablets (Additional strength)", "Deflazocort oral suspension (6mg/5ml) (new Dosage Form)"], "xref": ["DRUGBANK:DB11921", "UNII:KR5YZ6AE4B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135724", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D07AC12"], "medic_earliest_approval_date": "20080101", "medic_features": ["STEROID"], "medic_mention_id": "MEDICNE:ea77775d-01a2-5d1a-a8bc-75ed8cfdac8c", "medic_reliability": "MEDIUM", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C(Cl)=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@]2(C)[C@@]1(O)C(=O)CO", "name": "halometasone", "provided_by": ["infores:medic"], "synonym": ["Halometasone (as monohydrate ) 0.05% Cream"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135732", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:d8a53dd9-3530-5154-98a7-c300d090f2e5", "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)=CCOc1ccc(/C=C/C(=O)c2ccc(OCC=C(C)C)cc2OCC(=O)O)cc1", "name": "sofalcone", "provided_by": ["infores:medic"], "synonym": ["Sofalcone Capsule (100mg/50mg)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135737", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C08CA09"], "medic_earliest_approval_date": "19970505", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:9fd2c4c0-c0bc-522c-b57a-d68e91e0ebc4", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001700"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)C1=C(C)NC(C)=C(C(=O)OCC)C1c1ccccc1/C=C/C(=O)OC(C)(C)C", "name": "lacidipine", "provided_by": ["infores:medic"], "synonym": ["Lacidipine", "Lacidipine 2mg/4mg Film Coated Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL460291", "DRUGBANK:DB09236", "DrugCentral:1532", "PHAROS:ULST396RWY2M", "PUBCHEM.COMPOUND:5311217", "UNII:260080034N"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135738", "medic_application_numbers": ["022156"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C08CA16"], "medic_earliest_approval_date": "20080801", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f65827dd-b25b-56a0-bd83-d67eb4727e77", "medic_reliability": "HIGH", "medic_smiles": "CCCC(=O)OCOC(=O)C1=C(C)NC(C)=C(C(=O)OC)C1c1cccc(Cl)c1Cl", "name": "clevidipine", "provided_by": ["infores:medic"], "synonym": ["CLEVIDIPINE", "Clevidipine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1237132", "DRUGBANK:DB04920", "DrugCentral:674", "PHAROS:9YMDM8K1B9GQ", "PUBCHEM.COMPOUND:153994", "UNII:19O2GP3B7Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135741", "medic_application_numbers": ["022219|206089|208088|213953"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20080101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8bf812f4-030d-52b6-8cba-bf7cc097a3c3", "medic_reliability": "HIGH", "name": "testosterone undecanoate", "provided_by": ["infores:medic"], "synonym": ["TESTOSTERONE UNDECANOATE", "Testosterone Undecanoate 250mg/ml Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107067", "DrugCentral:2608", "PHAROS:4RGNGJF1LZZR", "PUBCHEM.COMPOUND:65157", "UNII:H16A5VCT9C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135746", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:fa8c52e6-0de0-5456-801e-0e63fad31163", "medic_reliability": "HIGH", "name": "hydrocortisone aceponate", "provided_by": ["infores:medic"], "synonym": ["Hydrocortisone Aceponate"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135752", "medic_application_numbers": ["210607|210795"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20180720", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:73a35724-7755-5d5a-8bf7-b2b5e8e4e0b1", "medic_reliability": "HIGH", "name": "tafenoquine", "provided_by": ["infores:medic"], "synonym": ["TAFENOQUINE SUCCINATE", "Tafenoquine"], "xref": ["DRUGBANK:DB06608", "UNII:262P8GS9L9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135754", "medic_mention_id": "MEDICNE:ac09850f-0b65-5c41-a4b7-db9971ffd553", "medic_reliability": "EXCLUDED", "name": "loprazolam", "provided_by": ["infores:medic"], "synonym": ["Loprazolam"], "xref": ["DRUGBANK:DB13643"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135755", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["G02AD05"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:4320ce36-f81f-5be9-89a0-b8666ba00356", "medic_reliability": "MEDIUM", "medic_smiles": "CS(=O)(=O)NC(=O)CCC/C=C\\C[C@H]1C(=O)C[C@@H](O)[C@@H]1/C=C/[C@@H](O)COc1ccccc1", "name": "sulprostone", "provided_by": ["infores:medic"], "synonym": ["Sulprostone Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL3889508", "PHAROS:F5FSYPSUQY8P", "PUBCHEM.COMPOUND:14429703"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135756", "medic_application_numbers": ["020240"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19941229", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4582252d-5d57-5455-b084-24fcb7d9a683", "medic_registration_numbers": ["MOH_RUSSIA:П N015520/01"], "medic_reliability": "HIGH", "name": "spirapril", "provided_by": ["infores:medic"], "synonym": ["SPIRAPRIL HYDROCHLORIDE", "Spirapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL431", "DrugCentral:2474", "PHAROS:TX9FQNU8VNG6", "PUBCHEM.COMPOUND:5311447", "UNII:96U2K78I3V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135762", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20060602", "medic_mention_id": "MEDICNE:c98cbafa-272e-5e75-9e22-1cd986287699", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003184"], "medic_reliability": "HIGH", "name": "methylprednisolone aceponate", "provided_by": ["infores:medic"], "synonym": ["Methylprednisolone Acrponate topical solution 0.1%", "Methylprednisolone aceponate", "Methylprednisolone aceponate- 1mg + Mupirocin-20mg. cream", "Метилпреднизолона ацепонат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135764", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:d2e4a87b-b23b-5cd3-ad05-81714360431c", "medic_reliability": "HIGH", "name": "mitopodozide", "provided_by": ["infores:medic"], "synonym": ["Proresid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135780", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20001215", "medic_mention_id": "MEDICNE:6818f741-ebf3-52aa-954e-3692e61abfae", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005669)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "otilonium bromide", "provided_by": ["infores:medic"], "synonym": ["Otilonium Bromide 40mg Tablet", "Otilonium bromide", "Отилония бромид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135782", "medic_application_numbers": ["019967|019968|076872|076903|076994|077001|077109|077123|077227|077721|078162|208183|209355|209978|210566|211464|213560|215266"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D07AC21"], "medic_earliest_approval_date": "19901217", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf665b08-9a29-59b9-a5b7-1bfc44429fc8", "medic_reliability": "MEDIUM", "medic_smiles": "CCC(=O)O[C@]1(C(=O)CCl)[C@@H](C)C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]21C", "name": "ulobetasol propionate", "provided_by": ["infores:medic"], "synonym": ["HALOBETASOL PROPIONATE", "Halobetazol Propionate Cream (0.05%)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200908", "DrugCentral:1349", "PHAROS:L7YSZU58GGSD", "PUBCHEM.COMPOUND:6918178", "UNII:91A0K1TY3Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135790", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b49cee60-ae5f-56d1-9c25-82a2e3daa8a1", "medic_reliability": "MEDIUM", "name": "estriol succinate", "provided_by": ["infores:medic"], "synonym": ["Estriol Succinate 2mg Tablet"], "xref": ["DrugCentral:1067", "PHAROS:WL44GUFMQYDS", "UNII:AS13K2DY03"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135791", "medic_application_numbers": ["019568|020279|077236|077287"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D07AC18"], "medic_earliest_approval_date": "19910923", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8506fee2-d83b-520d-aa5f-fabbf67ecc1a", "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)O[C@]1(C(=O)COC(=O)CC)CC[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@H]3[C@@H](O)C[C@@]21C", "name": "prednicarbate", "provided_by": ["infores:medic"], "synonym": ["PREDNICARBATE", "Prednicarbate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200386", "DRUGBANK:DB01130", "DrugCentral:2243", "PHAROS:55FY9TY2KF9H", "PUBCHEM.COMPOUND:6714002", "UNII:V901LV1K7D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135798", "medic_application_numbers": ["016998|017244|017528|018089"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:67228005-f326-50fd-8fa8-b8c2f8c791a2", "medic_reliability": "HIGH", "name": "betamethasone benzoate", "provided_by": ["infores:medic"], "synonym": ["BETAMETHASONE BENZOATE", "Betamethasone Benzoate", "Betamethasone-17-Benzoate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200376", "DrugCentral:351", "PHAROS:Z8KYNFWGFD69", "PUBCHEM.COMPOUND:5282492", "UNII:877K0XW47A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135804", "medic_application_numbers": ["009789"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ae258d6a-c96f-5aec-b45b-2183bdb1c971", "medic_reliability": "HIGH", "name": "hexafluronium", "provided_by": ["infores:medic"], "synonym": ["HEXAFLUORENIUM BROMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201349", "DrugCentral:1365", "PHAROS:9C8DWHVLN4TM", "PUBCHEM.COMPOUND:3601", "UNII:55W5L6G81R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135806", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19960812", "medic_mention_id": "MEDICNE:2aebb0cc-043d-5d56-848d-0e691e9cffb4", "medic_reliability": "MEDIUM", "name": "benidipine", "provided_by": ["infores:medic"], "synonym": ["Benidipine Hcl 4mg/8mg Film Coated Tablet", "Benidipine Hydrochloride Tablets", "盐酸贝尼地平片"], "xref": ["CHEMBL.COMPOUND:CHEMBL2074972,CHEMBL2218858", "DrugCentral:3880", "PHAROS:8R2MTZDYL492", "PUBCHEM.COMPOUND:2324,60065"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135809", "medic_application_numbers": ["217202"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["C07AB14"], "medic_earliest_approval_date": "20110701", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3f746a7c-4e9d-5716-a35d-a3043714baf9", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)OC[C@@H](COC(=O)CCc2ccc(OC[C@@H](O)CNCCNC(=O)N3CCOCC3)cc2)O1", "name": "landiolol", "provided_by": ["infores:medic"], "synonym": ["LANDIOLOL HYDROCHLORIDE", "Landiolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742466", "DRUGBANK:DB12212", "DrugCentral:1545", "PHAROS:KV62DVQK9B9S", "PUBCHEM.COMPOUND:114905", "UNII:62NWQ924LH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135810", "medic_application_numbers": ["219208"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250402", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b14378f-5f0d-5db5-a53d-d0eb013eb03d", "medic_reliability": "HIGH", "name": "atrasentan", "provided_by": ["infores:medic"], "synonym": ["ATRASENTAN HYDROCHLORIDE", "Atrasentan"], "xref": ["CHEMBL.COMPOUND:CHEMBL9194", "DRUGBANK:DB06199", "GTOPDB:3487", "PHAROS:9L4D118HQY1G", "PUBCHEM.COMPOUND:159594", "UNII:V6D7VK2215"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135811", "medic_atc_codes": ["A03AX04"], "medic_mention_id": "MEDICNE:c16bf895-af45-56c4-a12e-07884715a7b0", "medic_reliability": "EXCLUDED", "medic_smiles": "COc1cc(Br)c(C[N+]2(CCOCCC3CCC4CC3C4(C)C)CCOCC2)cc1OC", "name": "pinaverium", "provided_by": ["infores:medic"], "synonym": ["Pinaverium"], "xref": ["CHEMBL.COMPOUND:CHEMBL1909324", "DRUGBANK:DB09090", "PHAROS:KY8W9HP5NGMG", "PUBCHEM.COMPOUND:40704"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135815", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20160328", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:2dec6725-1240-5fd3-89ae-50e9c54234c4", "medic_reliability": "HIGH", "medic_smiles": "CCCC(=O)O[C@]1(C(=O)COC(=O)CC)[C@@H](C)C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]21C", "name": "betamethasone butyrate propionate", "provided_by": ["infores:medic"], "synonym": ["BETAMETHASONE BUTYRATE PROPIONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135826", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A01AB24", "D08AJ57", "G01AX66", "R02AA21"], "medic_earliest_approval_date": "20170317", "medic_mention_id": "MEDICNE:0b8b63cc-5610-508b-a717-fa4aa8aff41e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004379"], "medic_reliability": "MEDIUM", "medic_smiles": "CCCCCCCCN=c1ccn(CCCCCCCCCCn2ccc(=NCCCCCCCC)cc2)cc1", "name": "octenidine", "provided_by": ["infores:medic"], "synonym": ["Benzidamine + Octenidine + Phenoxyethanol", "Octenidine", "Octenidine dihydrochloride + Phenoxyethanol", "Октенидина дигидрохлорид+Феноксиэтанол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135829", "medic_application_numbers": ["020760"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971218", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c2f3aa96-8363-5a46-a289-f9a250efa6b0", "medic_reliability": "HIGH", "name": "alatrofloxacin", "provided_by": ["infores:medic"], "synonym": ["ALATROFLOXACIN MESYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135845", "medic_application_numbers": ["020984"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19990818", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bb39ae2f-9435-5f70-b38b-170002a50b6c", "medic_reliability": "HIGH", "name": "rapacuronium", "provided_by": ["infores:medic"], "synonym": ["RAPACURONIUM BROMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201352", "DrugCentral:3520", "PHAROS:528W63U9AQW2", "PUBCHEM.COMPOUND:5311399", "UNII:GG1LBM463S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135859", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:8bf67a07-d594-54d7-b101-e16e0dd41a04", "medic_reliability": "HIGH", "name": "efonidipine", "provided_by": ["infores:medic"], "synonym": ["Efonidipine Hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL2074922", "DrugCentral:992", "PHAROS:RJKK67JP4Y39", "PUBCHEM.COMPOUND:119171", "UNII:40ZTP2T37Q"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135862", "medic_application_numbers": ["013731"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fe12f498-a77f-5bfa-b329-3e28d1c3fd04", "medic_reliability": "HIGH", "name": "tyropanoate", "provided_by": ["infores:medic"], "synonym": ["TYROPANOATE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135871", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:95c2b8e5-68ea-519a-ad6b-b68695d97065", "medic_reliability": "HIGH", "name": "prednisolone steaglate", "provided_by": ["infores:medic"], "synonym": ["Prednisolone Stearoylglucolate (6.65mg) Tablet, (1.9g) Ophthalmic Ointment, (1.9g) Cream & Ointment", "Prednisolone Stearoylglycolate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135873", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060324", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:08976e20-a7d5-53c5-9ad1-5d80aba27909", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005012)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "glucosaminylmuramyl dipeptide", "provided_by": ["infores:medic"], "synonym": ["Glucosaminylmuramyl dipeptide", "Глюкозаминилмурамилдипептид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135875", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20130920", "medic_mention_id": "MEDICNE:37bc048e-97f5-589c-b592-6393d3f036b3", "medic_reliability": "HIGH", "medic_smiles": "C=Cc1c(C)c2cc3nc(c(CC(=O)N[C@@H](CC(=O)O)C(=O)O)c4[nH]c(cc5nc(cc1[nH]2)C(C)=C5CC)c(C)c4C(=O)O)[C@@H](CCC(=O)O)[C@@H]3C", "name": "talaporfin", "provided_by": ["infores:medic"], "synonym": ["TALAPORFIN SODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135876", "medic_application_numbers": ["020892|206430"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L01DB09"], "medic_earliest_approval_date": "19980925", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:65fce84d-9855-5879-8c84-025b13dba237", "medic_reliability": "HIGH", "medic_smiles": "CCCCC(=O)OCC(=O)[C@]1(O)Cc2c(O)c3c(c(O)c2[C@@H](O[C@H]2C[C@H](NC(=O)C(F)(F)F)[C@H](O)[C@H](C)O2)C1)C(=O)c1c(OC)cccc1C3=O", "name": "valrubicin", "provided_by": ["infores:medic"], "synonym": ["VALRUBICIN", "Valrubicin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1096885", "DRUGBANK:DB00385", "DrugCentral:2805", "PHAROS:DQJG3AWQP535", "PUBCHEM.COMPOUND:454216", "UNII:2C6NUM6878"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135884", "medic_application_numbers": ["020316"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AB12"], "medic_earliest_approval_date": "19951221", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b3db250e-8e4c-5a7f-8b53-1d8262dd8b2e", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N(CC(O)CO)c1c(I)c(C(=O)NCCO)c(I)c(C(=O)NCC(O)CO)c1I", "name": "ioxilan", "provided_by": ["infores:medic"], "synonym": ["IOXILAN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135885", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:69803d24-c1ef-538c-be55-480bb394edc1", "medic_reliability": "LOW", "name": "metildigoxin", "provided_by": ["infores:medic"], "synonym": ["Beta-Methyl Digoxin"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135888", "medic_application_numbers": ["021302|209345|211769"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["D11AH02"], "medic_earliest_approval_date": "20011213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dfe1512f-0f46-5d7f-8efd-de1585f97259", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007516)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H]1/C=C(\\C)C[C@H](C)C[C@H](OC)[C@H]2O[C@@](O)(C(=O)C(=O)N3CCCC[C@H]3C(=O)O[C@H](/C(C)=C/[C@@H]3CC[C@H](Cl)[C@H](OC)C3)[C@H](C)[C@@H](O)CC1=O)[C@H](C)C[C@@H]2OC", "name": "pimecrolimus", "provided_by": ["infores:medic"], "synonym": ["PIMECROLIMUS", "Pimecrolimus"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200686", "DRUGBANK:DB00337", "DrugCentral:2168", "GTOPDB:6783", "PHAROS:FAVP42HK5U5Z", "PUBCHEM.COMPOUND:6509979", "UNII:7KYV510875"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135894", "medic_application_numbers": ["018009"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7f3779bd-3993-57da-ab6c-2155140dcf4f", "medic_reliability": "HIGH", "name": "saralasin", "provided_by": ["infores:medic"], "synonym": ["SARALASIN ACETATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL938", "DrugCentral:3542", "PHAROS:QA6JR3NKFLT2", "PUBCHEM.COMPOUND:6324663"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135898", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19670711", "medic_mention_id": "MEDICNE:d53ade97-212f-54b2-8f29-8bfcd2e863ca", "medic_registration_numbers": ["MOH_RUSSIA:67/554/253"], "medic_reliability": "MEDIUM", "name": "lanatoside C", "provided_by": ["infores:medic"], "synonym": ["Lanatoside C", "Ланатозид Ц"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135899", "medic_approved_authorities": ["CDSCO", "EMA"], "medic_approved_jurisdictions": ["europe", "india"], "medic_atc_codes": ["G02CX01"], "medic_earliest_approval_date": "20000120", "medic_mention_id": "MEDICNE:b779a1ca-9662-5c33-9919-93e324db86ee", "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc(C[C@H]2NC(=O)CCSSC[C@@H](C(=O)N3CCC[C@H]3C(=O)N[C@@H](CCCN)C(=O)NCC(N)=O)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H]([C@@H](C)O)NC(=O)[C@H]([C@@H](C)CC)NC2=O)cc1", "name": "atosiban", "provided_by": ["infores:medic"], "synonym": ["Atosiban", "Atosiban Acetate", "atosiban"], "xref": ["CHEMBL.COMPOUND:CHEMBL382301", "DRUGBANK:DB09059", "DrugCentral:3008", "PHAROS:73ZZ6VFJXYYR", "PUBCHEM.COMPOUND:5311010", "UNII:081D12SI0Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135900", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:842031fd-3498-5efc-a557-8d8a2c453ad9", "medic_reliability": "HIGH", "medic_smiles": "CC[C@H](C)[C@@H]1NC(=O)[C@H](Cc2ccc(O)cc2)NC(=O)CCSSC[C@@H](C(=O)N2CCC[C@H]2C(=O)N[C@@H](CC(C)C)C(=O)NCC(N)=O)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCC(N)=O)NC1=O", "name": "demoxytocin", "provided_by": ["infores:medic"], "synonym": ["Desamino-oxytocin"], "xref": ["CHEMBL.COMPOUND:CHEMBL439044", "PHAROS:F5KWBWZ8DY3K", "PUBCHEM.COMPOUND:449224"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135901", "medic_application_numbers": ["022074|215395|217193"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "20070830", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a5c303d3-72b6-5c54-8222-1e563cc9b379", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005824)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.CC(C)[C@@H]1NC(=O)[C@H](CCCCN)NC(=O)[C@@H](Cc2c[nH]c3ccccc23)NC(=O)[C@H](Cc2ccc(O)cc2)NC(=O)[C@@H](NC(=O)[C@H](N)Cc2ccc3ccccc3c2)CSSC[C@@H](C(=O)N[C@H](C(N)=O)[C@@H](C)O)NC1=O", "name": "lanreotide", "provided_by": ["infores:medic"], "synonym": ["LANREOTIDE ACETATE", "Lanreotide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201185", "DRUGBANK:DB06791", "DrugCentral:1546", "PHAROS:FKZRDSB2A3AT", "PUBCHEM.COMPOUND:6918011", "UNII:0G3DE8943Y"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135905", "medic_application_numbers": ["022231"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["H01BA04"], "medic_earliest_approval_date": "20110811", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:98f0890a-a9c4-576e-936f-f47efb9acbd7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003436)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "NCCCC[C@H](NC(=O)[C@@H]1CCCN1C(=O)[C@@H]1CSSC[C@H](NC(=O)CNC(=O)CNC(=O)CN)C(=O)N[C@@H](Cc2ccc(O)cc2)C(=O)N[C@@H](Cc2ccccc2)C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@@H](CC(N)=O)C(=O)N1)C(=O)NCC(N)=O", "name": "terlipressin", "provided_by": ["infores:medic"], "synonym": ["TERLIPRESSIN ACETATE", "Terlipressin"], "xref": ["DRUGBANK:DB02638", "UNII:7Z5X49W53P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135906", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20090306", "medic_mention_id": "MEDICNE:2943ed36-28ef-5246-8d77-547923ea036b", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCC(=O)OC[C@H](COP(=O)(O)OCCNC(=O)[C@H](C)NC(=O)CC[C@@H](NC(=O)[C@H](C)NC(=O)[C@@H](C)O[C@H]1[C@H](O)[C@@H](CO)OC(O)[C@@H]1NC(C)=O)C(N)=O)OC(=O)CCCCCCCCCCCCCCC", "name": "mifamurtide", "provided_by": ["infores:medic"], "synonym": ["Mifamurtide", "mifamurtide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2111100", "DRUGBANK:DB13615", "DrugCentral:2960", "PHAROS:HA5HCP8AJRJU", "PUBCHEM.COMPOUND:11672602"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135907", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20080410", "medic_mention_id": "MEDICNE:e6720c96-61ce-53c9-8bb1-58e4c870c389", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003540)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.CCNC(=O)[C@@H]1CCCN1C(=O)[C@H](CCCNC(=N)N)NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](COC(C)(C)C)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1cnc[nH]1)NC(=O)[C@@H]1CCC(=O)N1", "name": "buserelin", "provided_by": ["infores:medic"], "synonym": ["BUSERELIN ACETATE", "Buserelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110824", "DRUGBANK:DB06719", "DrugCentral:436", "PHAROS:QM4F7Q9SU9VU", "PUBCHEM.COMPOUND:50225"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135910", "medic_application_numbers": ["021057|204246|212613|214996|215658|216075|218855|219454"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["H01CC01"], "medic_earliest_approval_date": "19990729", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2e4d66a6-4552-53df-8bf4-c594e826eaff", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000257)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC/N=C(\\NCC)NCCCC[C@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](CCCCN/C(=N/CC)NCC)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@@H](Cc1cccnc1)NC(=O)[C@@H](Cc1ccc(Cl)cc1)NC(=O)[C@@H](Cc1ccc2ccccc2c1)NC(C)=O)C(=O)N1CCC[C@H]1C(=O)N[C@H](C)C(N)=O", "name": "ganirelix", "provided_by": ["infores:medic"], "synonym": ["GANIRELIX ACETATE", "Ganirelix", "ganirelix"], "xref": ["CHEMBL.COMPOUND:CHEMBL1251", "DrugCentral:1279", "PHAROS:CAU3F3DY9BX5", "PUBCHEM.COMPOUND:16130957"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:135913", "medic_stub": true, "name": "secretin (human)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135915", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960911", "medic_mention_id": "MEDICNE:99a2b171-9648-5b73-81d5-c362aa930da1", "medic_reliability": "MEDIUM", "name": "thymalfasin", "provided_by": ["infores:medic"], "synonym": ["Thymalfasin for Injection", "注射用胸腺法新"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135919", "medic_application_numbers": ["020920"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C01DX19"], "medic_earliest_approval_date": "20010810", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1c87567b-b927-5427-b6ce-61f454595545", "medic_reliability": "HIGH", "name": "nesiritide", "provided_by": ["infores:medic"], "synonym": ["NESIRITIDE", "Nesiritide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201668", "DRUGBANK:DB04899", "DrugCentral:1901", "PHAROS:LAH4X8FQJD22"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135920", "medic_application_numbers": ["022030|204504|204792|204827|204868|204946|204973|204975|204983|205002|205007|205012"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["G04BD11"], "medic_earliest_approval_date": "20070420", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3cfc4879-a7e3-500f-9b23-319d1659c56e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002016"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C(=O)Oc1ccc(CO)cc1[C@H](CCN(C(C)C)C(C)C)c1ccccc1", "name": "fesoterodine", "provided_by": ["infores:medic"], "synonym": ["FESOTERODINE FUMARATE", "Fesoterodine", "Fezoterodine", "fesoterodine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201764", "DRUGBANK:DB06702", "DrugCentral:4191", "PHAROS:XU7ZMW28734Z", "PUBCHEM.COMPOUND:6918558", "UNII:621G617227"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135922", "medic_application_numbers": ["021332"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20050316", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d8dc03f1-f520-5b4c-91c6-ad9fb858a188", "medic_reliability": "HIGH", "name": "pramlintide", "provided_by": ["infores:medic"], "synonym": ["PRAMLINTIDE ACETATE", "Pramlintide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103758", "DRUGBANK:DB01278", "DrugCentral:2236", "PHAROS:4RRTLD1NKLS8", "PUBCHEM.COMPOUND:70691388", "UNII:D3FM8FA78T"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135923", "medic_application_numbers": ["208623"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A16AX14"], "medic_earliest_approval_date": "20160525", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0e2e3583-ed45-5b25-a744-3adfc7ef929c", "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1NC[C@H](O)[C@@H](O)[C@H]1O", "name": "migalastat", "provided_by": ["infores:medic"], "synonym": ["MIGALASTAT HYDROCHLORIDE", "Migalastat", "migalastat"], "xref": ["CHEMBL.COMPOUND:CHEMBL110458", "DRUGBANK:DB05018", "DrugCentral:5110", "GTOPDB:10200", "PHAROS:Y1A2RHTFZYAL", "PUBCHEM.COMPOUND:176077", "UNII:C4XNY919FW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135925", "medic_mention_id": "MEDICNE:a13cb74b-b78e-5d6c-8857-0fc41f41c066", "medic_reliability": "EXCLUDED", "medic_smiles": "CS(=O)(=O)O.CS(=O)(=O)O.C[C@@H](Cc1ccccc1)NC(=O)[C@@H](N)CCCCN", "name": "lisdexamfetamine", "provided_by": ["infores:medic"], "synonym": ["Lisdexamfetamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201222", "DRUGBANK:DB01255", "DrugCentral:4135", "PHAROS:D59LKVNCMD2M", "PUBCHEM.COMPOUND:11597698", "UNII:H645GUL8KJ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135926", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["G04BE11"], "medic_earliest_approval_date": "20080731", "medic_mention_id": "MEDICNE:329a2c1b-6ce7-5941-a2e6-7f4aa62b78a0", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006071/08"], "medic_reliability": "HIGH", "medic_smiles": "CCCOc1ccc(S(=O)(=O)NCCC2CCCN2C)cc1-c1nc2c(CCC)nn(C)c2c(=O)[nH]1", "name": "udenafil", "provided_by": ["infores:medic"], "synonym": ["Udenafil", "Udenafil Tablet 100mg/200mg", "Уденафил"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103849", "DrugCentral:4141", "PHAROS:VXTLY9XZGWK6", "PUBCHEM.COMPOUND:135413547", "UNII:L5IB4XLY36"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:135927", "medic_stub": true, "name": "epicriptine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135928", "medic_application_numbers": ["022106"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["J01DH04"], "medic_earliest_approval_date": "20071012", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cd50b738-f084-58dd-b2c5-29e510f22e85", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004833"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H](O)[C@H]1C(=O)N2C(C(=O)O)=C(S[C@@H]3CN[C@H](CNS(N)(=O)=O)C3)[C@H](C)[C@H]12", "name": "doripenem", "provided_by": ["infores:medic"], "synonym": ["DORIPENEM", "DORIPENEM HYDRATE", "Doripenem", "Doripenem (as monohydrate) Injection 250mg/500mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL491571", "PHAROS:PGFBFNGJ8MXR", "PUBCHEM.COMPOUND:6918242"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135929", "medic_application_numbers": ["022206|204726|204793|204816|206541|209029|209745|210396|210626|210687|211060|211166|211731|213230"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "india", "russia", "usa"], "medic_atc_codes": ["G04CA04"], "medic_earliest_approval_date": "20081008", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c00f5f02-e30f-56d7-856b-d0fb29988b57", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002956)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](Cc1cc2c(c(C(N)=O)c1)N(CCCO)CC2)NCCOc1ccccc1OCC(F)(F)F", "name": "silodosin", "provided_by": ["infores:medic"], "synonym": ["SILODOSIN", "Selodosin Capsules", "Silodosin", "Silodosin Tablets 4mg", "silodosin"], "xref": ["CHEMBL.COMPOUND:CHEMBL24778", "DRUGBANK:DB06207", "DrugCentral:4151", "GTOPDB:493", "PHAROS:BJBJAP4NP94V", "PUBCHEM.COMPOUND:5312125", "UNII:CUZ39LUY82"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135930", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C08CA13"], "medic_earliest_approval_date": "20080901", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:833d3563-80e0-56e9-a039-f6453547dc27", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000705"], "medic_reliability": "HIGH", "medic_smiles": "COC(=O)C1=C(C)NC(C)=C(C(=O)OC(C)(C)CN(C)CCC(c2ccccc2)c2ccccc2)C1c1cccc([N+](=O)[O-])c1", "name": "lercanidipine", "provided_by": ["infores:medic"], "synonym": ["Lercanidipine", "Lercanidipine + Enalapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL250270", "DRUGBANK:DB00528", "DrugCentral:4157", "PHAROS:LL3CDGAUT7RF", "PUBCHEM.COMPOUND:65866", "UNII:V7XTJ4R0BH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135931", "medic_application_numbers": ["022287|202294|202666|205205|208056|219115"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A02BC06"], "medic_earliest_approval_date": "20090130", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7cfd5cbe-2b94-5426-87d6-517fc4da0f1b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002477"], "medic_reliability": "HIGH", "medic_smiles": "Cc1c(OCC(F)(F)F)ccnc1C[S@@+]([O-])c1nc2ccccc2[nH]1", "name": "dexlansoprazole", "provided_by": ["infores:medic"], "synonym": ["DEXLANSOPRAZOLE", "Dexlansoprazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201863", "DRUGBANK:DB05351", "DrugCentral:4162", "PHAROS:SSKHG6YF1VN6", "PUBCHEM.COMPOUND:9578005", "UNII:UYE4T5I70X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135934", "medic_application_numbers": ["007936|083892|084394|085777|086209|088228|089996"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["D01AE13"], "medic_earliest_approval_date": "19711231", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:816dc0a8-1e16-515d-a977-1772b8711974", "medic_registration_numbers": ["MOH_RUSSIA:71/946/45"], "medic_reliability": "HIGH", "medic_smiles": "S=[Se]=S", "name": "selenium sulfide", "provided_by": ["infores:medic"], "synonym": ["SELENIUM SULFIDE", "Selenium sulfide"], "xref": ["DRUGBANK:DB00971", "UNII:Z69D9E381Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135935", "medic_application_numbers": ["022304|200533|203794|205057|214378|219119"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["N02AX06"], "medic_earliest_approval_date": "20081120", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d106be62-5f74-5a9d-ba5d-071fcf5f3101", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002631"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H](c1cccc(O)c1)[C@@H](C)CN(C)C", "name": "tapentadol", "provided_by": ["infores:medic"], "synonym": ["TAPENTADOL HYDROCHLORIDE", "Tapentadol", "Tapentadol Extended release Tablet 50mg (Additional Strength)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201776", "DRUGBANK:DB06204", "DrugCentral:4283", "GTOPDB:7477", "PHAROS:LFH5DAQJQJMG", "PUBCHEM.COMPOUND:9838022", "UNII:H8A007M585"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135938", "medic_mention_id": "MEDICNE:edf8ccfb-3226-5eb0-9eb2-97e2ecfd4103", "medic_reliability": "EXCLUDED", "name": "lasofoxifene", "provided_by": ["infores:medic"], "synonym": ["Lasofoxifene"], "xref": ["CHEMBL.COMPOUND:CHEMBL328190,CHEMBL2113354", "DRUGBANK:DB06202", "GTOPDB:7542", "PHAROS:D7PTN2C9LXHX", "PUBCHEM.COMPOUND:216416,10671241", "UNII:337G83N988"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135939", "medic_application_numbers": ["022253|022254|022255|204787|204839|204855|204857|204921|204947|204974|204994|205006|205011|205031|205237|206355|208308|208466|209224|209301|209465|213109|214301|214567|214672|214677|214695|214960|215154|215379|215628|215979|216151|216185|216335|216461|216670|216806|217311|217718|218014|218464|218706|219699|220268|220386"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["N03AX18"], "medic_earliest_approval_date": "20080829", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ff8bf242-8c81-5096-a13b-e567866b2670", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007034"], "medic_reliability": "HIGH", "medic_smiles": "COC[C@@H](NC(C)=O)C(=O)NCc1ccccc1", "name": "lacosamide", "provided_by": ["infores:medic"], "synonym": ["LACOSAMIDE", "Lacosaamide Tablets", "Lacosamide", "Lacosamide Injection 10mg/ml", "lacosamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL58323", "DRUGBANK:DB06218", "DrugCentral:4310", "GTOPDB:7472", "PHAROS:UQNT2XADN7BW", "PUBCHEM.COMPOUND:219078", "UNII:563KS2PQY5"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135945", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["L01DB11"], "medic_earliest_approval_date": "20170901", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:c2abe9b6-7bf3-5b3c-a6f6-52019cd4910a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004439"], "medic_reliability": "HIGH", "medic_smiles": "NCCNc1ccc(NCCN)c2c1C(=O)c1ccncc1C2=O", "name": "pixantrone", "provided_by": ["infores:medic"], "synonym": ["Pixantrone", "Pixantrone 29mg powder for concentrate for solution for infusion"], "xref": ["DRUGBANK:DB06193"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135946", "medic_application_numbers": ["017697|210850"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V04CC03"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c9a5b366-6880-5a23-bf4d-76ee6ee25567", "medic_reliability": "HIGH", "medic_smiles": "CSCC[C@H](NC(=O)[C@H](Cc1ccc(OS(=O)(=O)O)cc1)NC(=O)[C@@H](N)CC(=O)O)C(=O)NCC(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CCSC)C(=O)N[C@@H](CC(=O)O)C(=O)N[C@@H](Cc1ccccc1)C(N)=O", "name": "sincalide", "provided_by": ["infores:medic"], "synonym": ["SINCALIDE"], "xref": ["UNII:M03GIQ7Z6P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135947", "medic_application_numbers": ["022247"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["G03XC02"], "medic_earliest_approval_date": "20090417", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2c05c9af-b985-5a5e-8441-aab18c9bd6e4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009088)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.Cc1c(-c2ccc(O)cc2)n(Cc2ccc(OCCN3CCCCCC3)cc2)c2ccc(O)cc12", "name": "bazedoxifene", "provided_by": ["infores:medic"], "synonym": ["BAZEDOXIFENE ACETATE", "BAZEDOXIFENE ACETATE; ESTROGENS, CONJUGATED", "Bazedoxifene", "Bazedoxifene + Conjugated Estrogens", "bazedoxifene", "oestrogens conjugated;bazedoxifene"], "xref": ["CHEMBL.COMPOUND:CHEMBL46740", "DRUGBANK:DB06401", "DrugCentral:4334", "GTOPDB:7355", "PHAROS:AJ33Z8Z6P4XV", "PUBCHEM.COMPOUND:154257", "UNII:Q16TT9C5BK"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135948", "medic_application_numbers": ["208078"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20091223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0aa9d3f9-79da-5dd8-8999-3a7ec7ee5948", "medic_reliability": "HIGH", "medic_smiles": "Nc1ccncc1N.O=P(O)(O)O", "name": "amifampridine", "provided_by": ["infores:medic"], "synonym": ["AMIFAMPRIDINE PHOSPHATE", "Amifampridine", "amifampridine"], "xref": ["CHEMBL.COMPOUND:CHEMBL354077", "DRUGBANK:DB11640", "DrugCentral:4336", "PHAROS:TKD5AFJ1327V", "PUBCHEM.COMPOUND:5918", "UNII:RU4S6E2G0J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135949", "medic_application_numbers": ["022081|208252|208354|208441|209509|210058|210701|210715|210784|216531"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["C02KX02"], "medic_earliest_approval_date": "20070615", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9937b194-4737-5885-929d-a79474cd0c91", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001345"], "medic_reliability": "HIGH", "medic_smiles": "COC(c1ccccc1)(c1ccccc1)[C@H](Oc1nc(C)cc(C)n1)C(=O)O", "name": "ambrisentan", "provided_by": ["infores:medic"], "synonym": ["AMBRISENTAN", "Ambrisentan", "ambrisentan"], "xref": ["CHEMBL.COMPOUND:CHEMBL1111", "DRUGBANK:DB06403", "DrugCentral:4337", "GTOPDB:3951", "PHAROS:TQB2ZLQZX2Y3", "PUBCHEM.COMPOUND:6918493", "UNII:HW6NV07QEC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135953", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20221209", "medic_mention_id": "MEDICNE:bac8dfe4-d068-5ec2-b7f3-6eff62fce7fc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008695"], "medic_reliability": "LOW", "name": "bibrocathol", "provided_by": ["infores:medic"], "synonym": ["Bibrokatol", "Биброкатол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135954", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan"], "medic_atc_codes": ["R06AX29", "S01GX13"], "medic_earliest_approval_date": "20160928", "medic_mention_id": "MEDICNE:49450645-ecab-50e2-ad37-16a585c2500d", "medic_reliability": "HIGH", "medic_smiles": "CCOCCn1c(C2CCN(CCc3ccc(C(C)(C)C(=O)O)cc3)CC2)nc2ccccc21", "name": "bilastine", "provided_by": ["infores:medic"], "synonym": ["BILASTINE", "Bilastine", "Bilastine Tablets", "Bilastine tablets 20 mg and Bilastine Bulk", "FDC of Bilastine 20mg and Montelukast 10mg tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742423", "DRUGBANK:DB11591", "DrugCentral:4353", "PHAROS:QGTVYQJRAHVZ", "PUBCHEM.COMPOUND:185460", "UNII:PA1123N395"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135956", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20100901", "medic_mention_id": "MEDICNE:efd74c9a-897a-5640-81b7-d1c61df5cf93", "medic_reliability": "HIGH", "name": "vernakalant", "provided_by": ["infores:medic"], "synonym": ["Vernakalant", "vernakalant hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL2111112,CHEMBL2107383", "DRUGBANK:DB06217", "DrugCentral:4365", "PHAROS:KYCBV4JF2BFP", "PUBCHEM.COMPOUND:9930049,9930048", "UNII:9G468C8B13"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135957", "medic_application_numbers": ["213716"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20210122", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:51f0a100-874a-5886-bedf-940cccd3a314", "medic_reliability": "HIGH", "name": "voclosporin", "provided_by": ["infores:medic"], "synonym": ["VOCLOSPORIN", "Voclosporin", "voclosporin"], "xref": ["DRUGBANK:DB11693", "UNII:2PN063X6B1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135958", "medic_application_numbers": ["018536"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V09EX02"], "medic_earliest_approval_date": "19821001", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7136086f-630c-538d-886a-7f2156971a9e", "medic_reliability": "HIGH", "medic_smiles": "[127Xe]", "name": "xenon (127Xe) gas", "provided_by": ["infores:medic"], "synonym": ["XENON XE-127"], "xref": ["UNII:9C7571UDT5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135959", "medic_application_numbers": ["017256|017262|017283|017284|017550|017687|018327"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b2b3304b-5b33-58e0-ab3d-fb992794e423", "medic_reliability": "HIGH", "name": "xenon (133Xe) gas", "provided_by": ["infores:medic"], "synonym": ["XENON XE-133"], "xref": ["UNII:X3P9A5HNYF"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135961", "medic_application_numbers": ["022201"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L02BX02"], "medic_earliest_approval_date": "20081224", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b8c137f8-79e6-50b4-a975-cafbd10fae9b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000278)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N[C@H](Cc1ccc2ccccc2c1)C(=O)N[C@H](Cc1ccc(Cl)cc1)C(=O)N[C@H](Cc1cccnc1)C(=O)N[C@@H](CO)C(=O)N[C@@H](Cc1ccc(NC(=O)[C@@H]2CC(=O)NC(=O)N2)cc1)C(=O)N[C@H](Cc1ccc(NC(N)=O)cc1)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCCNC(C)C)C(=O)N1CCC[C@H]1C(=O)N[C@H](C)C(N)=O", "name": "degarelix", "provided_by": ["infores:medic"], "synonym": ["DEGARELIX ACETATE", "Degarelix", "degarelix"], "xref": ["CHEMBL.COMPOUND:CHEMBL415606", "DRUGBANK:DB06699", "DrugCentral:4379", "PHAROS:KMWKWYZ3DMAG", "PUBCHEM.COMPOUND:101755083", "UNII:SX0XJI3A11"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135962", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G04BX14"], "medic_earliest_approval_date": "20130725", "medic_mention_id": "MEDICNE:a57bd4f1-b9cd-5e52-89c3-e86bbb754909", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002154"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)[C@@H](CCOc1cccc2ccccc12)c1ccccc1", "name": "dapoxetine", "provided_by": ["infores:medic"], "synonym": ["Dapoxetine"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110900", "DRUGBANK:DB04884", "DrugCentral:4381", "GTOPDB:7901", "PHAROS:A646T4ZB8UNK", "PUBCHEM.COMPOUND:71353", "UNII:GB2433A4M3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135968", "medic_application_numbers": ["218275"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240403", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b619f2c3-9027-51f5-bd59-bd7f73e68fc4", "medic_reliability": "HIGH", "name": "ceftobiprole medocaril", "provided_by": ["infores:medic"], "synonym": ["CEFTOBIPROLE MEDOCARIL SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135975", "medic_application_numbers": ["009182"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4a112247-04e9-5b83-a363-1528f919197e", "medic_reliability": "HIGH", "name": "sulfisoxazole acetyl", "provided_by": ["infores:medic"], "synonym": ["SULFISOXAZOLE ACETYL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135980", "medic_application_numbers": ["022119|203321|203543|203700|203779|203783|203812|203933|203938|204352|204356|204366|204455|204457|204465|204496|204506|204510|204514|204515|204535|204539|204547|204667|205687|207025|209507|210524|211698|211740|215083"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20070823", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5c517707-7c46-5ad0-b94f-55463351bae1", "medic_reliability": "HIGH", "name": "ammonia-(13)N", "provided_by": ["infores:medic"], "synonym": ["AMMONIA N-13"], "xref": ["UNII:9OQO0E343Z"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135983", "medic_application_numbers": ["019498"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "19871223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0e655014-b5e2-506c-94cc-36c66aae70ca", "medic_reliability": "HIGH", "name": "teriparatide", "provided_by": ["infores:medic"], "synonym": ["TERIPARATIDE", "TERIPARATIDE ACETATE", "TERIPARATIDE [TERIPARATIDE BIOSIMILAR 1]", "Teriparatide", "teriparatide"], "xref": ["CHEMBL.COMPOUND:CHEMBL525610", "DRUGBANK:DB06285", "DrugCentral:4514", "PHAROS:UZ885S5YAP8C", "PUBCHEM.COMPOUND:129631922", "UNII:10T9CSU89I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:135990", "medic_application_numbers": ["021164"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N06AX19"], "medic_earliest_approval_date": "20230922", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e49fc95e-0002-5dfe-aada-cc9d4bf952c8", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)CC(=O)N(CCCCN2CCN(c3ncccn3)CC2)C(=O)C1.Cl", "name": "gepirone", "provided_by": ["infores:medic"], "synonym": ["GEPIRONE HYDROCHLORIDE", "Gepirone"], "xref": ["CHEMBL.COMPOUND:CHEMBL284092", "DRUGBANK:DB12184", "PHAROS:7PV68P3A4YW2", "PUBCHEM.COMPOUND:55191", "UNII:JW5Y7B8Z18"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135993", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20110726", "medic_mention_id": "MEDICNE:d4e48962-9d87-5e5a-a64e-d3d359b11bf3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001621"], "medic_reliability": "HIGH", "name": "nomegestrol", "provided_by": ["infores:medic"], "synonym": ["Nomegestrol + Estradiol", "nomegestrol;estradiol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:135997", "medic_application_numbers": ["209607"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20180730", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0e3eb822-264c-5406-ad34-81cb16d090a9", "medic_reliability": "HIGH", "name": "iobenguane (131I)", "provided_by": ["infores:medic"], "synonym": ["3-IODOBENZYLGUANIDINE (131I)", "IOBENGUANE I-131", "Iobenguane i-131"], "xref": ["CHEMBL.COMPOUND:CHEMBL1615779", "DRUGBANK:DB06704", "DrugCentral:4577", "PHAROS:V762KN17WR7R", "PUBCHEM.COMPOUND:71184"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136002", "medic_application_numbers": ["018088"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V09EX01"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8645e3cb-1332-5ce9-b50a-5d9ca0d3a564", "medic_reliability": "HIGH", "medic_smiles": "[81Kr]", "name": "krypton (81mKr) gas", "provided_by": ["infores:medic"], "synonym": ["KRYPTON, KR-81M"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:136007", "medic_application_numbers": ["021964|208112|208271|208592"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20080424", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2d38e32a-26cb-51a9-9098-6bbd9c8a1f2d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001071"], "medic_reliability": "HIGH", "name": "methylnaltrexone", "provided_by": ["infores:medic"], "synonym": ["METHYLNALTREXONE BROMIDE", "Methylnaltrexone", "Methylnaltrexone bromide", "methylnaltrexone bromide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1186579,CHEMBL470617,CHEMBL1201770", "DRUGBANK:DB06800", "DrugCentral:4616", "GTOPDB:7563", "PHAROS:ANPB4A3ZA471", "PUBCHEM.COMPOUND:5361918,44592056,131673807", "UNII:0RK7M7IABE"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:136009", "medic_stub": true, "name": "(6S)-5-methyltetrahydrofolic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:136015", "medic_stub": true, "name": "betiatide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136019", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["V03AX02"], "medic_earliest_approval_date": "20090121", "medic_mention_id": "MEDICNE:f9233e8a-865b-50bb-ae00-8066f81794ad", "medic_reliability": "HIGH", "medic_smiles": "CN(C(=O)/C=C/c1ccoc1)[C@@H]1CC[C@@]2(O)[C@H]3Cc4ccc(O)c5c4[C@@]2(CCN3CC2CC2)[C@H]1O5", "name": "nalfurafine", "provided_by": ["infores:medic"], "synonym": ["NALFURAFINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL267495,CHEMBL490665", "DrugCentral:4673", "GTOPDB:1651", "PHAROS:GAVFYSPDV7NU", "PUBCHEM.COMPOUND:6445230,6918287", "UNII:XC41AVD567"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:136034", "medic_application_numbers": ["210797"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["D02BB02"], "medic_earliest_approval_date": "20141222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:af700f62-579c-5519-ada0-c838279e6cbb", "medic_reliability": "HIGH", "medic_smiles": "CCCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(C)=O)C(=O)N[C@@H](CCC(=O)O)C(=O)N[C@@H](Cc1c[nH]cn1)C(=O)N[C@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(=N)N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@H](C(N)=O)C(C)C", "name": "afamelanotide", "provided_by": ["infores:medic"], "synonym": ["AFAMELANOTIDE", "Afamelanotide", "afamelanotide"], "xref": ["CHEMBL.COMPOUND:CHEMBL441738", "DRUGBANK:DB04931", "DrugCentral:4836", "PHAROS:GVXTJLRMCSM6", "PUBCHEM.COMPOUND:16154396", "UNII:QW68W3J66U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136036", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080226", "medic_mention_id": "MEDICNE:2de69814-e923-5a81-b56d-abd9f61d21f3", "medic_registration_numbers": ["MOH_RUSSIA:Р N001177/01"], "medic_reliability": "MEDIUM", "name": "cridanimod", "provided_by": ["infores:medic"], "synonym": ["Cridanimod", "Криданимод"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136038", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080314", "medic_mention_id": "MEDICNE:2fcb5d13-231d-5bf4-954d-11f48df809ef", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003397"], "medic_reliability": "LOW", "name": "mebicar", "provided_by": ["infores:medic"], "synonym": ["Temgikoluril", "Темгиколурил"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136039", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20251225", "medic_mention_id": "MEDICNE:c48594ae-7574-55f3-818f-09f504606859", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011207)-(ГП-RU)"], "medic_reliability": "MEDIUM", "name": "phenibut", "provided_by": ["infores:medic"], "synonym": ["Phenibut", "фенибут"], "xref": ["CHEMBL.COMPOUND:CHEMBL315818", "DrugCentral:4863", "PHAROS:9VW474H912TD", "PUBCHEM.COMPOUND:74441225", "UNII:T2M58D6LA8"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:136040", "medic_application_numbers": ["204168|210732|210771|210790|210826"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20130725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6b9bcd86-bbb9-51d4-a6b7-c1485d904079", "medic_reliability": "HIGH", "medic_smiles": "CCN(CC)C(=O)[C@@]1(c2ccccc2)C[C@H]1CN.Cl", "name": "levomilnacipran", "provided_by": ["infores:medic"], "synonym": ["LEVOMILNACIPRAN HYDROCHLORIDE", "Levomilnacipran", "Levomilnacipran ER capsules 20mg/40mg/80mg/120mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL99946", "DRUGBANK:DB08918", "DrugCentral:4864", "GTOPDB:7435", "PHAROS:V5W79B1J49BS", "PUBCHEM.COMPOUND:6917779", "UNII:UGM0326TXX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136041", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20140324", "medic_mention_id": "MEDICNE:32530e75-d960-5775-b1b3-51337b52bc3b", "medic_reliability": "HIGH", "medic_smiles": "CCc1ccc(Cc2ccc3c(c2)[C@]2(OC3)O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O)cc1", "name": "tofogliflozin", "provided_by": ["infores:medic"], "synonym": ["TOFOGLIFLOZIN HYDRATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110731", "DrugCentral:4892", "GTOPDB:9395", "PHAROS:4NZFL7YZ62JQ", "PUBCHEM.COMPOUND:46908929", "UNII:554245W62T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136042", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20120629", "medic_mention_id": "MEDICNE:4026a519-c1be-5c61-8ade-5aed8eea45eb", "medic_reliability": "HIGH", "name": "teneligliptin", "provided_by": ["infores:medic"], "synonym": ["TENELIGLIPTIN HYDROBROMIDE HYDRATE", "Teneligliptin Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL2147777", "DrugCentral:4895", "GTOPDB:9906", "PHAROS:RPKLVWPN4ZB3", "PUBCHEM.COMPOUND:11949652"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136043", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20120928", "medic_mention_id": "MEDICNE:a7069a9a-d94a-5d47-bdaf-8984405bb93c", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc2ncc(C(=O)NCC(C)(C)NCC(=O)N3CCC[C@H]3C#N)cn2n1", "name": "anagliptin", "provided_by": ["infores:medic"], "synonym": ["ANAGLIPTIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL1929396,CHEMBL1929387", "DrugCentral:4896", "PHAROS:LN91PRSNHWJG", "PUBCHEM.COMPOUND:44513473,54764334", "UNII:K726J96838"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136044", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C09CA10"], "medic_earliest_approval_date": "20160906", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:e5d19319-399c-526e-8404-aff03cee014c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003962"], "medic_reliability": "HIGH", "medic_smiles": "CCCCc1nc(C)c(CC(=S)N(C)C)c(=O)n1Cc1ccc(-c2ccccc2-c2nnn[nH]2)cc1", "name": "fimasartan", "provided_by": ["infores:medic"], "synonym": ["Fimasartan", "Fimasartan potassium trihydrate bulk drug and Fimasartan film coated tablets 30mg/60mg/120mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1951143", "DrugCentral:4906", "PHAROS:HFWZW3LJSWPH", "PUBCHEM.COMPOUND:9870652", "UNII:P58222188P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136046", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_atc_codes": ["S01EX07"], "medic_earliest_approval_date": "20140926", "medic_mention_id": "MEDICNE:3c372bee-2761-5a8e-9dd8-f3686f25fa2e", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1CNCCCN1S(=O)(=O)c1cccc2cncc(F)c12", "name": "ripasudil", "provided_by": ["infores:medic"], "synonym": ["RIPASUDIL HYDROCHLORIDE HYDRATE", "Ripasudil", "Ripasudil hydrochloride hydrate bulk drug and Ripasudil Eye drops 0.4% w/v"], "xref": ["CHEMBL.COMPOUND:CHEMBL3426621", "DRUGBANK:DB13165", "DrugCentral:4938", "PHAROS:6CRF1W92FPCB", "PUBCHEM.COMPOUND:9863672", "UNII:11978226XX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136047", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20140926", "medic_mention_id": "MEDICNE:d08e72e7-bd2b-5cdf-ae4a-3f6bc96621a1", "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H]1C[C@]1(NC(=O)[C@@H]1C[C@@H]2CN1C(=O)[C@H](C(C)(C)C)NC(=O)OCC(C)(C)CCCCc1cccc3c1CN(C3)C(=O)O2)C(=O)NS(=O)(=O)C1CC1", "name": "vaniprevir", "provided_by": ["infores:medic"], "synonym": ["VANIPREVIR"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:136048", "medic_application_numbers": ["215151"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20141226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:79ce3910-ff53-53dc-91f6-8df63fb9d3c1", "medic_reliability": "HIGH", "medic_smiles": "CNCc1cc(-c2ccccc2F)n(S(=O)(=O)c2cccnc2)c1.O=C(O)/C=C/C(=O)O", "name": "vonoprazan", "provided_by": ["infores:medic"], "synonym": ["VONOPRAZAN FUMARATE", "Vonoprazan", "Vonoprazan fumarate Bulk drug& Vonoprazan tablets 10mg/20 mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL2079130", "DRUGBANK:DB11739", "DrugCentral:4993", "PHAROS:TP9FG29CN411", "PUBCHEM.COMPOUND:15981397", "UNII:1R5L3J156G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136050", "medic_application_numbers": ["208945"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_atc_codes": ["D06AX14"], "medic_earliest_approval_date": "20150928", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:748bf410-8f06-57f5-a8d7-a4bd91e77b34", "medic_reliability": "HIGH", "medic_smiles": "CNc1ncc(-c2ccc3c(=O)c(C(=O)O)cn(C4CC4)c3c2C)cc1C", "name": "ozenoxacin", "provided_by": ["infores:medic"], "synonym": ["OZENOXACIN", "Ozenoxacin", "Ozenoxacin bulk and Ozenoxacin cream 1% w/w"], "xref": ["DRUGBANK:DB12924"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:136051", "medic_application_numbers": ["210923"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["B02BX07"], "medic_earliest_approval_date": "20150928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:26e0e0f8-d2e7-577e-9ce0-bc8f4abd248c", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCO[C@@H](C)c1cccc(-c2csc(NC(=O)c3cc(Cl)c(/C=C(\\C)C(=O)O)c(Cl)c3)n2)c1OC", "name": "lusutrombopag", "provided_by": ["infores:medic"], "synonym": ["LUSUTROMBOPAG", "Lusutrombopag", "lusutrombopag"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107831", "DRUGBANK:DB13125", "DrugCentral:5059", "PHAROS:4NHGW7R66UTB", "PUBCHEM.COMPOUND:49843517", "UNII:6LL5JFU42F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:136053", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220829", "medic_mention_id": "MEDICNE:1782d3a1-ef1d-599e-aa05-4b011a632783", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008508"], "medic_reliability": "MEDIUM", "name": "nemonoxacin", "provided_by": ["infores:medic"], "synonym": ["Nemonoxacin", "Немоноксацин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:138856", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01MB05"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:d3239fae-51ac-56ad-bfe3-01be8018f620", "medic_reliability": "HIGH", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc3c(cc21)OCO3", "name": "oxolinic acid", "provided_by": ["infores:medic"], "synonym": ["Oxolinic acid"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:138865", "medic_application_numbers": ["218709"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L03AX24"], "medic_earliest_approval_date": "20240426", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3ae033c9-45f4-5c28-a9f1-f58fea35e502", "medic_reliability": "HIGH", "medic_smiles": "NCCCCN(Cc1nc2ccccc2[nH]1)[C@H]1CCCc2cccnc21", "name": "AMD 070", "provided_by": ["infores:medic"], "synonym": ["MAVORIXAFOR", "Mavorixafor"], "xref": ["CHEMBL.COMPOUND:CHEMBL518924", "DRUGBANK:DB05501", "GTOPDB:8580", "PHAROS:9KBCS5NQJAPG", "PUBCHEM.COMPOUND:11256587", "UNII:0G9LGB5O2W"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:139123", "medic_stub": true, "name": "pyrrolidonecarboxylic acid", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:140376", "medic_application_numbers": ["209445"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["J01DI04"], "medic_earliest_approval_date": "20191114", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:faee70dc-9beb-51b0-9ca5-73ccaf9374a5", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(O/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(C[N+]3(CCNC(=O)c4ccc(O)c(O)c4Cl)CCCC3)CS[C@H]12)c1csc(N)n1)C(=O)O", "name": "cefiderocol", "provided_by": ["infores:medic"], "synonym": ["CEFIDEROCOL SULFATE TOSYLATE", "Cefiderocol", "cefiderocol"], "xref": ["DRUGBANK:DB14879", "UNII:SZ34OMG6E8"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:141521", "medic_stub": true, "name": "trandolaprilat", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:145536", "medic_application_numbers": ["217159"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230908", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8e454fcf-de89-5cbb-a056-3fcbb0620f2a", "medic_reliability": "HIGH", "name": "motixafortide", "provided_by": ["infores:medic"], "synonym": ["MOTIXAFORTIDE ACETATE", "Motixafortide"], "xref": ["UNII:DA9G065962"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:145924", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20030331", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:e0d96657-bce9-52d0-813e-f62fd4edebbe", "medic_reliability": "MEDIUM", "name": "Kaletra", "provided_by": ["infores:medic"], "synonym": ["Lopinavir/Ritonavir Oral Solution", "Lopinavir/Ritonavir Tablets", "洛匹那韦利托那韦片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:145994", "medic_application_numbers": ["214787"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["J05AB16"], "medic_earliest_approval_date": "20200507", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c08e9fee-804b-58b1-ad26-9510165c3e06", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006505"], "medic_reliability": "HIGH", "medic_smiles": "CCC(CC)COC(=O)[C@H](C)N[P@](=O)(OC[C@H]1O[C@@](C#N)(c2ccc3c(N)ncnn23)[C@H](O)[C@@H]1O)Oc1ccccc1", "name": "remdesivir", "provided_by": ["infores:medic"], "synonym": ["REMDESIVIR", "Remdesivir", "Remdesivir bulk drug", "remdesivir"], "xref": ["DRUGBANK:DB14761", "UNII:3QKI37EEHE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:147675", "medic_application_numbers": ["013934|013935|014169|015868"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D06BB01", "J05AB02", "S01AD01"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1557a578-1053-5c5e-be3c-9200cf390fed", "medic_reliability": "MEDIUM", "medic_smiles": "O=c1[nH]c(=O)n([C@H]2C[C@H](O)[C@@H](CO)O2)cc1I", "name": "5-iodo-2'-deoxyuridine", "provided_by": ["infores:medic"], "synonym": ["IDOXURIDINE", "Idoxuridine (0.5% ophthalmic sol.) Eye Drops"]}
{"category": ["biolink:Drug"], "id": "CHEBI:149226", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G02CA03", "R03AC04", "R03CC04"], "medic_earliest_approval_date": "20080814", "medic_mention_id": "MEDICNE:913cdc2e-a313-5aac-90b7-ca4be61c63a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002943"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(Cc1ccc(O)cc1)NCC(O)c1cc(O)cc(O)c1", "name": "fenoterol", "provided_by": ["infores:medic"], "synonym": ["Fenoterol", "Фенотерол"], "xref": ["CHEMBL.COMPOUND:CHEMBL32800", "DrugCentral:1155", "GTOPDB:557", "PHAROS:MRRJP8GU4Q9G", "PUBCHEM.COMPOUND:3343"]}
{"category": ["biolink:Drug"], "id": "CHEBI:149566", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:b4af7c2e-361c-5609-91f3-8370925f999f", "medic_reliability": "MEDIUM", "name": "xylazine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Xylazine Hcl 20mg/ml (For Veterinary)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:149601", "medic_application_numbers": ["211616"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["C10AX15"], "medic_earliest_approval_date": "20200221", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aaa09455-7190-515f-a8b2-db6650c9a3f0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007155)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(CCCCCC(O)CCCCCC(C)(C)C(=O)O)C(=O)O", "name": "bempedoic acid", "provided_by": ["infores:medic"], "synonym": ["BEMPEDOIC ACID", "BEMPEDOIC ACID; EZETIMIBE", "Bempedoic Acid + Ezetimibe", "Bempedoic acid", "Bempedoic acid bulk and Bempedoic acid tablet 180 mg", "FDC of Bempedoic acid 180 mg+ Ezetimbe 10 mg tablet", "bempedoic acid", "bempedoic acid;ezetimibe"], "xref": ["CHEMBL.COMPOUND:CHEMBL3545313", "DRUGBANK:DB11936", "DrugCentral:5382", "PHAROS:HWK8BKTA914U", "PUBCHEM.COMPOUND:10472693", "UNII:1EJ6Z6Q368"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:149836", "medic_application_numbers": ["021821|091620|204439|205645|205722|206335|208744|211158|214020"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["J01AA12"], "medic_earliest_approval_date": "20050615", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5c3d16da-48ff-5aad-bd9c-71edb23213f1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004793"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)c1cc(NC(=O)CNC(C)(C)C)c(O)c2c1C[C@H]1C[C@H]3[C@H](N(C)C)C(O)=C(C(N)=O)C(=O)[C@@]3(O)C(O)=C1C2=O", "name": "tigecycline", "provided_by": ["infores:medic"], "synonym": ["TIGECYCLINE", "Tigecycline", "Tigecycline for Injection", "tigecycline"], "xref": ["DRUGBANK:DB00560", "UNII:70JE2N95KR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15354", "medic_mention_id": "MEDICNE:cb7207d3-86c2-56dc-9873-c5bc3477c34f", "medic_reliability": "EXCLUDED", "medic_smiles": "C[N+](C)(C)CCOP(=O)([O-])OC[C@H](O)CO", "name": "choline", "provided_by": ["infores:medic"], "synonym": ["Choline"], "xref": ["DRUGBANK:DB00122", "UNII:N91BDP6H0X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15355", "medic_application_numbers": ["016211|020213"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:70ff3ce6-7fe5-55d7-abb7-dc594f4c53bc", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC[N+](C)(C)C.[Cl-]", "name": "acetylcholine", "provided_by": ["infores:medic"], "synonym": ["ACETYLCHOLINE CHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1184,CHEMBL667", "DrugCentral:65", "GTOPDB:294,8593", "PHAROS:RN9JTC51H81M", "PUBCHEM.COMPOUND:6060,187", "UNII:N9YNS0M02X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15356", "medic_application_numbers": ["019523|210660|212535"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19861022", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2bab102a-9add-547c-ac2c-ad32ce709c60", "medic_reliability": "HIGH", "name": "cysteine", "provided_by": ["infores:medic"], "synonym": ["CYSTEINE HYDROCHLORIDE", "Cysteine"], "xref": ["DRUGBANK:DB00151"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15361", "medic_mention_id": "MEDICNE:11c32440-cb22-56df-a0a2-0bee2b681c5e", "medic_reliability": "EXCLUDED", "name": "pyruvate", "provided_by": ["infores:medic"], "synonym": ["Pyruvate"], "xref": ["DRUGBANK:DB00119"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:15365", "medic_application_numbers": ["016030|021317|200671|203697"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01", "N02BA51", "N02BA71"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:cea1c8c3-1678-5d57-b0dc-4f618ff61605", "medic_registration_numbers": ["MOH_RUSSIA:64/228/108"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Oc1ccccc1C(=O)O", "name": "acetylsalicylic acid", "provided_by": ["infores:medic"], "synonym": ["ACETYLSALICYLIC ACID + ASCORBIC ACID", "ASPIRIN", "Acetylsalicylic Acid + Caffeine", "Acetylsalicylic Acid + Caffeine + Paracetamol", "Acetylsalicylic Acid + Caffeine + Paracetamol + [Ascorbic Acid]", "Acetylsalicylic Acid + Clopidogrel", "Acetylsalicylic Acid + Magnesium Hydroxide", "Acetylsalicylic Acid + Phenylephrine + Chlorphenamine", "Acetylsalicylic Acid + [Ascorbic Acid]", "Acetylsalicylic Acid + [Magnesium Hydroxide]", "Acetylsalicylic acid", "Acetylsalicylic acid + [Ascorbic acid + Rutoside]; Diphenhydramine + Metamizole sodium + [Calcium gluconate]", "Acetylsalicylic acid + [Citric acid + Sodium bicarbonate]", "Aspirin", "Aspirin 325mg/500mg Delayed Release Tablet", "Aspirin Enteric-Coated Tablets", "Atorvastatin + Acetylsalicylic Acid", "Ацетилсалициловая кислота+[Аскорбиновая кислота+Рутозид]; Дифенгидрамин+Метамизол натрия+[Кальция глюконат]"], "xref": ["CHEMBL.COMPOUND:CHEMBL25", "DRUGBANK:DB00945", "DrugCentral:74", "GTOPDB:4139", "PHAROS:NNQ793F142LD", "PUBCHEM.COMPOUND:2244", "UNII:R16CO5Y76E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15366", "medic_application_numbers": ["012179|017656|018161|018523|040166|040607|085493|086845|087146|088638|207280"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d4996ff7-3eac-58b6-801e-e327783b0fa6", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001785"], "medic_reliability": "HIGH", "medic_smiles": "C[11C](=O)O", "name": "acetic acid", "provided_by": ["infores:medic"], "synonym": ["ACETIC ACID, GLACIAL", "ACETIC ACID, GLACIAL; ALUMINUM ACETATE", "ACETIC ACID, GLACIAL; DESONIDE", "ACETIC ACID, GLACIAL; HYDROCORTISONE", "ACETIC ACID, GLACIAL; HYDROCORTISONE; NEOMYCIN SULFATE", "Acetic acid", "Уксусная кислота"], "xref": ["UNII:Q40Q9N063P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15367", "medic_application_numbers": ["016921|017340|017522|017579|017955|019049|019963|020400|020404|020438|020475|021108|022070|074873|075213|075260|075264|075265|075529|075589|076498|077684|090098|201687|202026|202209|202567|207955|208279|209353|211644|211645|215609|215713|217587|217588|217804|217831|217833|218245|218246|218399|218561"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["D10AD01", "D10AD51", "L01XF01"], "medic_earliest_approval_date": "19710101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d2ee52cc-4b2e-5d55-8f73-60f5f528ce95", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000717)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC1=C(/C=C/C(C)=C/C=C/C(C)=C/C(=O)O)C(C)(C)CCC1", "name": "all-trans-retinoic acid", "provided_by": ["infores:medic"], "synonym": ["Avi A Capsules", "TRETINOIN", "Tretinion 0.05% Cream", "Tretinoin", "Tretinoin 0.05%/50ml Lotion"], "xref": ["CHEMBL.COMPOUND:CHEMBL38", "DRUGBANK:DB00755", "DrugCentral:2722", "GTOPDB:2644", "PHAROS:AAM7T1JPHW13", "PUBCHEM.COMPOUND:444795", "UNII:5688UTC01R"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15377", "medic_application_numbers": ["016734|017428|017513|017866|018246|018313|216123"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b0fb4d5d-2859-590b-a40c-5a5e2698a812", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000711"], "medic_reliability": "HIGH", "medic_smiles": "O", "name": "water", "provided_by": ["infores:medic"], "synonym": ["STERILE WATER FOR IRRIGATION", "Water", "Вода"], "xref": ["UNII:059QF0KO0R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15379", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["V03AN01"], "medic_earliest_approval_date": "20110909", "medic_mention_id": "MEDICNE:b038a9d9-9f49-59c9-845d-04e8c0888e7d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000594"], "medic_reliability": "MEDIUM", "medic_smiles": "O=O", "name": "dioxygen", "provided_by": ["infores:medic"], "synonym": ["Oxygen", "Oxygen + Xenon", "Кислород"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:15396", "medic_stub": true, "name": "(R)-camphor", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15407", "medic_application_numbers": ["208289|208609|208943|209646|209784|212649|212932|213407|213994|214334|214528|214579|215593|215825|216129|216146|217276|217721|218211|218271|219050"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c2072c29-dce3-514a-92b9-591e1c1e5b49", "medic_registration_numbers": ["MOH_RUSSIA:72/334/34"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@@H](C)[C@H](O)c1ccccc1.CN[C@@H](C)[C@H](O)c1ccccc1.O=S(=O)(O)O", "name": "(-)-ephedrine", "provided_by": ["infores:medic"], "synonym": ["EPHEDRINE HYDROCHLORIDE", "EPHEDRINE SULFATE", "Ephedrine", "Ephedrine Sulphide 75mg Sustained Release Capsule."], "xref": ["CHEMBL.COMPOUND:CHEMBL211456", "DRUGBANK:DB01364", "DrugCentral:1024", "GTOPDB:556", "PHAROS:1HFH7FWPVHDF", "PUBCHEM.COMPOUND:9294", "UNII:GN83C131XS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15409", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20060623", "medic_mention_id": "MEDICNE:e6e8d109-38f6-5327-88c2-834a29c4ecb1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001236"], "medic_reliability": "HIGH", "name": "(-)-menthol", "provided_by": ["infores:medic"], "synonym": ["L-MENTHOL", "Levomenthol", "Levomenthol + Eucalyptus globulus Leaf Oil", "Levomenthol + Phenylsalicylate"], "xref": ["UNII:BZ1R15MTK7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15414", "medic_atc_codes": ["A16AA02"], "medic_mention_id": "MEDICNE:7de13cea-b8a6-5715-ab56-24364901bb9e", "medic_reliability": "EXCLUDED", "medic_smiles": "C[S+](CC[C@H](N)C(=O)[O-])C[C@H]1O[C@@H](n2cnc3c(N)ncnc32)[C@H](O)[C@@H]1O", "name": "S-adenosyl-L-methionine", "provided_by": ["infores:medic"], "synonym": ["S-adenosylmethionine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15428", "medic_application_numbers": ["016784|017633|017865|018315|018522"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["B05CX03"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cd9167ce-aa63-5cba-86c7-1ec94b644691", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002286"], "medic_reliability": "HIGH", "medic_smiles": "NCC(=O)O", "name": "glycine", "provided_by": ["infores:medic"], "synonym": ["Acetylsalicylic Acid + Glycine", "GLYCINE", "Glycine", "Glycine + Glutamic Acid + Cystine", "Glycine + Melatonin"], "xref": ["CHEMBL.COMPOUND:CHEMBL773", "DRUGBANK:DB00145", "DrugCentral:1319", "GTOPDB:727", "PHAROS:YXX31QZ3CNMJ", "PUBCHEM.COMPOUND:750,5257127", "UNII:TE7660XO1C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15440", "medic_mention_id": "MEDICNE:fa0dbb60-3839-5413-b226-75c2518e5c32", "medic_reliability": "EXCLUDED", "name": "squalene", "provided_by": ["infores:medic"], "synonym": ["Squalene"], "xref": ["DRUGBANK:DB11460"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15443", "medic_application_numbers": ["002282"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:56a9d180-9070-5114-b6be-4c220bbac8e7", "medic_reliability": "HIGH", "name": "inulin", "provided_by": ["infores:medic"], "synonym": ["INULIN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15544", "medic_application_numbers": ["018484|020379|020649|020700|020755|021212|074815|075196"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C01EA01", "G04BE01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b5453381-2d41-56db-8035-e7896345f242", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003321"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC[C@H](O)/C=C/[C@H]1[C@H](O)CC(=O)[C@@H]1CCCCCCC(=O)O", "name": "prostaglandin E1", "provided_by": ["infores:medic"], "synonym": ["ALPROSTADIL", "Alprostadil"], "xref": ["CHEMBL.COMPOUND:CHEMBL495", "DRUGBANK:DB00770", "DrugCentral:138", "GTOPDB:1882", "PHAROS:GC3649M152KB", "PUBCHEM.COMPOUND:5280723", "UNII:F5TD010360"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15551", "medic_application_numbers": ["017810|019617|020411"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["G02AD02"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2667ed91-c2ec-52d9-aee8-777d5bdc870b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000106)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC[C@H](O)/C=C/[C@H]1[C@H](O)CC(=O)[C@@H]1C/C=C\\CCCC(=O)O", "name": "prostaglandin E2", "provided_by": ["infores:medic"], "synonym": ["DINOPROSTONE", "Dinoprostone", "Dinoprostone (PGE2) 0.5mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL548", "DRUGBANK:DB00917", "DrugCentral:913", "GTOPDB:1883,1916", "PHAROS:GCFTHMVTVAZN", "PUBCHEM.COMPOUND:5280360", "UNII:K7Q1JQR04M"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15552", "medic_application_numbers": ["020444|022260|078396|210473|213913|219237"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["B01AC09"], "medic_earliest_approval_date": "19950920", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:080c0dfd-5abe-5dd6-9b2d-564412f2b2fc", "medic_reliability": "HIGH", "medic_smiles": "CCCCC[C@H](O)/C=C/[C@@H]1[C@H]2C/C(=C/CCCC(=O)O)O[C@H]2C[C@H]1O", "name": "prostaglandin I2", "provided_by": ["infores:medic"], "synonym": ["EPOPROSTENOL SODIUM", "Epoprostenol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1139", "DRUGBANK:DB01240", "DrugCentral:1034", "GTOPDB:1915", "PHAROS:QFY18N3QPJ2R", "PUBCHEM.COMPOUND:5282411", "UNII:DCR9Z582X0"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15553", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:a62d4b25-b48d-56a2-a4a4-142b561abe09", "medic_registration_numbers": ["MOH_RUSSIA:П N014872/01"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC[C@H](O)/C=C/[C@@H]1[C@@H](C/C=C\\CCCC(=O)O)[C@@H](O)C[C@H]1O.NC(CO)(CO)CO", "name": "prostaglandin F2alpha", "provided_by": ["infores:medic"], "synonym": ["Dinoprost", "Dinoprost 5mg/ml Injection (For Veterinary)", "Динопрост"], "xref": ["CHEMBL.COMPOUND:CHEMBL815", "DrugCentral:912", "GTOPDB:1884", "PHAROS:GCAJ7BC694FA", "PUBCHEM.COMPOUND:5280363", "UNII:B7IN85G1HY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:155927", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:db7c518a-e37f-5511-b30d-5dfade385686", "medic_reliability": "MEDIUM", "name": "arterolane maleate", "provided_by": ["infores:medic"], "synonym": ["Arteolane Maleate and", "Arterolane Maleate 150mg + Piperaquine Phosphate 750mg Tablet"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:15603", "medic_stub": true, "name": "L-leucine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:156095", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20161219", "medic_mention_id": "MEDICNE:2a2eff44-0976-5566-b20c-ec34d868e07f", "medic_reliability": "HIGH", "name": "lumefantrine", "provided_by": ["infores:medic"], "synonym": ["LUMEFANTRINE", "Lumefantrine"], "xref": ["CHEMBL.COMPOUND:CHEMBL38827", "DRUGBANK:DB06708", "PHAROS:LHD19CSBQ57X", "PUBCHEM.COMPOUND:6437380", "UNII:F38R0JR742"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15611", "medic_mention_id": "MEDICNE:e2f13c2c-e6f7-5258-b138-2f3a15f6a9d6", "medic_reliability": "EXCLUDED", "name": "sarcosine", "provided_by": ["infores:medic"], "synonym": ["Sarcosine"], "xref": ["DRUGBANK:DB12519"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15640", "medic_mention_id": "MEDICNE:5c937d4b-ee8e-5ca7-95c2-5b52f52323dd", "medic_reliability": "EXCLUDED", "name": "5-formyltetrahydrofolic acid", "provided_by": ["infores:medic"], "synonym": ["Leucovorin"], "xref": ["DRUGBANK:DB00650"]}
{"category": ["biolink:Drug"], "id": "CHEBI:157175", "medic_application_numbers": ["019616"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01MA04"], "medic_earliest_approval_date": "19911231", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:21819355-542d-5ba0-b0ee-792eddbd1c74", "medic_reliability": "HIGH", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc(F)c(N3CCNCC3)nc21", "name": "enoxacin", "provided_by": ["infores:medic"], "synonym": ["ENOXACIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL826", "GTOPDB:8882", "PHAROS:42BGH2DF7K8T", "PUBCHEM.COMPOUND:3229,28230148"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15727", "medic_mention_id": "MEDICNE:f40e089d-230e-5bea-b41e-3552d881e71f", "medic_reliability": "EXCLUDED", "name": "carnosine", "provided_by": ["infores:medic"], "synonym": ["Carnosine"], "xref": ["DRUGBANK:DB11695"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15729", "medic_mention_id": "MEDICNE:92940daf-a3e9-5d90-bc6d-3f03b9acd9fe", "medic_reliability": "EXCLUDED", "medic_smiles": "NCCC[C@H](N)C(=O)O", "name": "L-ornithine", "provided_by": ["infores:medic"], "synonym": ["L-ornithine"], "xref": ["DRUGBANK:DB00129"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15741", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:fcb34113-4e16-555b-a5ea-25813e7ab58e", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002723"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C(O)CCC(=O)O", "name": "succinic acid", "provided_by": ["infores:medic"], "synonym": ["Succinic Acid + [Citric Acid]", "Succinic acid", "Янтарная кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15746", "medic_mention_id": "MEDICNE:7a229633-8839-576b-b66c-b74865bea014", "medic_reliability": "EXCLUDED", "name": "spermine", "provided_by": ["infores:medic"], "synonym": ["Spermine"], "xref": ["CHEMBL.COMPOUND:CHEMBL23194", "DRUGBANK:DB00127", "GTOPDB:710", "PHAROS:9A2KG497S5ZP", "PUBCHEM.COMPOUND:1103"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15765", "medic_application_numbers": ["016912|016913|016948|209184"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N04BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3e5c3d3a-7256-5738-ba21-9063ae1ae3b0", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000939"], "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](Cc1ccc(O)c(O)c1)C(=O)O", "name": "L-dopa", "provided_by": ["infores:medic"], "synonym": ["LEVODOPA", "LEVODOPA + CARBIDOPPA", "Levodopa", "levodopa"], "xref": ["CHEMBL.COMPOUND:CHEMBL1009", "DRUGBANK:DB01235", "DrugCentral:1567", "PHAROS:H7AMHQ2Y882F", "PUBCHEM.COMPOUND:6047", "UNII:46627O600J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15782", "medic_application_numbers": ["061086"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c2885da2-be4c-5879-9719-2b9cc6f44520", "medic_reliability": "HIGH", "name": "viomycin", "provided_by": ["infores:medic"], "synonym": ["VIOMYCIN SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15843", "medic_mention_id": "MEDICNE:424cb48c-b01b-5f9d-8243-e6e35894febc", "medic_reliability": "EXCLUDED", "name": "arachidonic acid", "provided_by": ["infores:medic"], "synonym": ["Arachidonic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL267484", "DRUGBANK:DB04557", "PHAROS:KQR28J1FQR7Y", "PUBCHEM.COMPOUND:5312542"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15846", "medic_mention_id": "MEDICNE:d199e114-7d15-55d6-94d0-45e2ee669f47", "medic_reliability": "EXCLUDED", "name": "NAD(+)", "provided_by": ["infores:medic"], "synonym": ["Nad+"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:15854", "medic_application_numbers": ["021799|091661|202581|203112|203729|204372"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20050812", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:821b8573-545d-500b-854c-108779ee7e13", "medic_reliability": "HIGH", "name": "quinine", "provided_by": ["infores:medic"], "synonym": ["QUININE SULFATE", "Quinine"], "xref": ["CHEMBL.COMPOUND:CHEMBL170", "DRUGBANK:DB00468", "GTOPDB:2510", "PHAROS:TTP1BWG4HT3M", "PUBCHEM.COMPOUND:3034034", "UNII:A7V27PHC7A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15866", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20210501", "medic_mention_id": "MEDICNE:1c75f78e-0bfe-5a34-9857-3e09c239d755", "medic_reliability": "MEDIUM", "name": "2-deoxy-D-glucose", "provided_by": ["infores:medic"], "synonym": ["2-Deoxy-D-Glucose bulk and 2-Deoxy-D-Glucose 2.34g & 5.85g sachet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15882", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C05BB05", "D08AE03", "N01BX03", "R02AA19"], "medic_earliest_approval_date": "20080910", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:9703638d-f1e3-5b46-9a67-36649038122f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001523"], "medic_reliability": "MEDIUM", "medic_smiles": "Oc1ccccc1", "name": "phenol", "provided_by": ["infores:medic"], "synonym": ["Boric Acid + Resorcinol + Phenol + Basic Fuchsin", "Boric Acid + Resorcinol + Phenol + Fuchsin", "Phenol", "metacresol + phenol", "метакрезол+Фенол"], "xref": ["UNII:339NCG44TV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15891", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20060203", "medic_mention_id": "MEDICNE:30a54334-95ae-5dd1-bd54-9ae7a981a3f6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000264"], "medic_reliability": "HIGH", "medic_smiles": "NCCS(=O)(=O)O", "name": "taurine", "provided_by": ["infores:medic"], "synonym": ["TAURINE", "Taurine"], "xref": ["DRUGBANK:DB01956", "UNII:1EQV5MLY3D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15904", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20060530", "medic_mention_id": "MEDICNE:2bc977b7-6e4f-5fec-983b-b0d39e9c127c", "medic_reliability": "MEDIUM", "name": "long-chain fatty acid", "provided_by": ["infores:medic"], "synonym": ["Long-Chain Fatty Acid Emulsion Injection (OO)", "长链脂肪乳注射液（OO）"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15927", "medic_mention_id": "MEDICNE:aec114d7-d18a-5b94-a050-751b7d2ebe40", "medic_reliability": "EXCLUDED", "name": "N-ribosylnicotinamide", "provided_by": ["infores:medic"], "synonym": ["Nicotinamide riboside"], "xref": ["DRUGBANK:DB14933"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15940", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19731130", "medic_mention_id": "MEDICNE:7101bfdd-f96c-560c-b0fc-5a9a2a458aca", "medic_registration_numbers": ["MOH_RUSSIA:73/941/17"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C(OCc1ccccc1)c1cccnc1", "name": "nicotinic acid", "provided_by": ["infores:medic"], "synonym": ["Niacin", "Nicotinic acid", "Никотиновая кислота"], "xref": ["CHEMBL.COMPOUND:CHEMBL573", "DRUGBANK:DB00627", "DrugCentral:2835", "PHAROS:KMR1XXHPFJH1", "PUBCHEM.COMPOUND:938", "UNII:2679MF687A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15956", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20230629", "medic_mention_id": "MEDICNE:63b60cd8-c73d-5ca6-9006-4523aed58b5b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002640)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "biotin", "provided_by": ["infores:medic"], "synonym": ["Biotin"], "xref": ["DRUGBANK:DB00121", "UNII:6SO6U10H04"]}
{"category": ["biolink:Drug"], "id": "CHEBI:15971", "medic_mention_id": "MEDICNE:cd457eb3-5de4-5f2b-a2a9-208b740f3348", "medic_reliability": "EXCLUDED", "name": "L-histidine", "provided_by": ["infores:medic"], "synonym": ["L-histidine"], "xref": ["DRUGBANK:DB00117", "UNII:4QD397987E"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16000", "medic_stub": true, "name": "ethanolamine", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16015", "medic_stub": true, "name": "L-glutamic acid", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16095", "medic_application_numbers": ["219666"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20250619", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76a867d5-7b1a-54c5-adc6-b8baef7c5356", "medic_reliability": "HIGH", "name": "sepiapterin", "provided_by": ["infores:medic"], "synonym": ["SEPIAPTERIN", "Sepiapterin", "sepiapterin"], "xref": ["DRUGBANK:DB16326", "UNII:CJQ26KO7HP"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16118", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090211", "medic_mention_id": "MEDICNE:96a36bcf-bb8a-5bfe-be4b-8457bef6b866", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008219)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "COc1ccc2cc3[n+](cc2c1OC)CCc1cc2c(cc1-3)OCO2", "name": "berberine", "provided_by": ["infores:medic"], "synonym": ["Berberin", "Berberine bisulfate", "Берберина бисульфат"], "xref": ["CHEMBL.COMPOUND:CHEMBL12089,CHEMBL295124", "PHAROS:29GMVN86KTRH", "PUBCHEM.COMPOUND:6426334,2353"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16134", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:580c5214-c6d3-5359-b0bd-04e5e8f15617", "medic_registration_numbers": ["MOH_RUSSIA:64/228/216"], "medic_reliability": "MEDIUM", "medic_smiles": "N", "name": "ammonia", "provided_by": ["infores:medic"], "synonym": ["Ammonia", "Ammonia + Glycerol + Ethanol", "Ammonia and Anise Drops", "Аммиак"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16137", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060519", "medic_mention_id": "MEDICNE:6f4e210d-9451-5d0f-8443-27c3d89d7ee6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002788"], "medic_reliability": "MEDIUM", "name": "chondroitin D-glucuronate", "provided_by": ["infores:medic"], "synonym": ["Chondroitin sulfate", "Diacereine + Chondroitin Sulfate", "Glucosamine + Chondroitin Sulfate", "Glucosamine + Ibuprofen + Chondroitin Sulfate", "Хондроитина сульфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16163", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["R05CB03"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:edb7fb31-e938-5efd-a269-7089c28220ca", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004390"], "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](CSCC(=O)O)C(=O)O", "name": "S-carboxymethyl-L-cysteine", "provided_by": ["infores:medic"], "synonym": ["Carbocisteine", "Carbocysteine"], "xref": ["DRUGBANK:DB04339"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:161680", "medic_application_numbers": ["050580|050632|050814|065286|065439|206517|207069"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19861231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bbf280ff-b7f8-5ae5-935b-8a7fec94f974", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005790"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1[C@H](NC(=O)C(=NOC(C)(C)C(=O)O)c2csc(N)n2)C(=O)N1S(=O)(=O)O", "name": "aztreonam", "provided_by": ["infores:medic"], "synonym": ["AZTREONAM", "Aztreonam", "Aztreonam+[Avibactam]", "aztreonam", "aztreonam;avibactam"], "xref": ["DRUGBANK:DB00355", "UNII:G2B4VE5GH8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16171", "medic_mention_id": "MEDICNE:bd53a290-c1e7-5973-9562-4711e1d27cea", "medic_reliability": "EXCLUDED", "name": "NMN zwitterion", "provided_by": ["infores:medic"], "synonym": ["Nmn"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16196", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240801", "medic_mention_id": "MEDICNE:46f62ae8-37b5-5dbb-a126-27b4d9681d62", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006416)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "oleic acid", "provided_by": ["infores:medic"], "synonym": ["Oleic acid", "Обетихолевая кислота"], "xref": ["CHEMBL.COMPOUND:CHEMBL8659", "DrugCentral:3400", "GTOPDB:1054", "PHAROS:44KS49R58Z5P", "PUBCHEM.COMPOUND:445639", "UNII:2UMI9U37CP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16199", "medic_application_numbers": ["083947|086008"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:840ffe2a-01c3-508a-b627-feb1f9fdb363", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001277"], "medic_reliability": "HIGH", "medic_smiles": "N[14C](N)=O", "name": "urea", "provided_by": ["infores:medic"], "synonym": ["Betamethasone + Urea", "Bifonazole + Urea", "CITRIC ACID; UREA C-13", "HYDROCORTISONE; UREA", "UREA", "UREA C-13", "Urea"], "xref": ["CHEMBL.COMPOUND:CHEMBL985", "DrugCentral:4264", "PHAROS:QX6CAGTLSFJ7", "PUBCHEM.COMPOUND:1176", "UNII:8W8T17847W"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16234", "medic_stub": true, "name": "hydroxide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16236", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D08AX08", "V03AB16", "V03AZ01"], "medic_earliest_approval_date": "19740709", "medic_mention_id": "MEDICNE:f621041c-4da9-5ed2-b09b-4b079d960a8c", "medic_registration_numbers": ["MOH_RUSSIA:74/614/11"], "medic_reliability": "MEDIUM", "medic_smiles": "CCO", "name": "ethanol", "provided_by": ["infores:medic"], "synonym": ["Ethanol", "Ethyl alcohol", "Этанол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16240", "medic_application_numbers": ["209305"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AB02", "D08AX01", "D11AX25", "S02AA06"], "medic_earliest_approval_date": "19740709", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d6f3f086-2252-5117-a619-b423cc294f6b", "medic_registration_numbers": ["MOH_RUSSIA:74/614/30"], "medic_reliability": "HIGH", "medic_smiles": "OO", "name": "hydrogen peroxide", "provided_by": ["infores:medic"], "synonym": ["HYDROGEN PEROXIDE", "Hydrogen peroxide", "Hydrogen peroxide 0.5% w/w spray"], "xref": ["UNII:BBX060AN9V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16247", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060331", "medic_mention_id": "MEDICNE:b7fc0a21-f3d5-5f74-b3ea-5c6286b1caa9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000068"], "medic_reliability": "MEDIUM", "name": "phospholipid", "provided_by": ["infores:medic"], "synonym": ["Phospholipids", "Фосфолипиды"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16283", "medic_mention_id": "MEDICNE:a07e86a4-c6fa-5648-a0aa-609119b2792a", "medic_reliability": "EXCLUDED", "medic_smiles": "N[C@@H](CSSC[C@H](N)C(=O)O)C(=O)O", "name": "L-cystine", "provided_by": ["infores:medic"], "synonym": ["L-cystine"], "xref": ["DRUGBANK:DB00138"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16301", "medic_stub": true, "name": "nitrite", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16335", "medic_application_numbers": ["019937|020059|076404|076500|076501|076564|077133|077283|077425|077897|078076|078640|078676|078686|090010|090212|090220|090450|202313|203883|205331|205568|206778"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C01EB10"], "medic_earliest_approval_date": "19781023", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9a475fe7-6121-5efc-b250-2995fc50327e", "medic_registration_numbers": ["MOH_RUSSIA:78/1001/15"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ncnc2c1ncn2[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O", "name": "adenosine", "provided_by": ["infores:medic"], "synonym": ["ADENOSINE", "Adenosine", "Adenosine + Nicotinamide + Cytochrome C", "Adenosine phosphate"], "xref": ["CHEMBL.COMPOUND:CHEMBL477", "DRUGBANK:DB00640", "DrugCentral:90", "GTOPDB:2844", "PHAROS:QVB8Q7NQV6B5", "PUBCHEM.COMPOUND:60961", "UNII:K72T3FS567"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16336", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D03AX05", "M09AX01", "R01AX09", "S01KA01"], "medic_earliest_approval_date": "20080801", "medic_mention_id": "MEDICNE:7f2458d8-d84e-548f-baaa-940c12e1c93e", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006134/08"], "medic_reliability": "MEDIUM", "name": "hyaluronic acid", "provided_by": ["infores:medic"], "synonym": ["Hyaluronic Acid", "Гиалуроновая кислота"], "xref": ["UNII:S270N0TRQY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16337", "medic_mention_id": "MEDICNE:2157808b-df9a-5dba-9ecc-54d4f24f56b2", "medic_reliability": "EXCLUDED", "name": "phosphatidic acid", "provided_by": ["infores:medic"], "synonym": ["Phosphatidic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16344", "medic_mention_id": "MEDICNE:c7f0c13f-35be-5868-95d4-fdc920369a2a", "medic_reliability": "EXCLUDED", "name": "guanidinoacetic acid", "provided_by": ["infores:medic"], "synonym": ["Guanidinoacetate"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16347", "medic_application_numbers": ["018948|019257|020182|075567|075861|075881|076851|076858|077399|211676|212533|216384|217430"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["A16AA01"], "medic_earliest_approval_date": "19851227", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:abc2433e-08e1-5b65-b552-85ca349900c2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003924"], "medic_reliability": "HIGH", "medic_smiles": "C[N+](C)(C)C[C@H](O)CC(=O)[O-]", "name": "(R)-carnitine", "provided_by": ["infores:medic"], "synonym": ["L-Carnitine Injection", "L-Carnitine Oral Solution", "L-carnitine", "LEVOCARNITINE", "LEVOCARNITINE CHLORIDE", "Levocarnitine"], "xref": ["DRUGBANK:DB00583", "UNII:0G389FZZ9M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16349", "medic_mention_id": "MEDICNE:3d7d3498-4091-53a3-92fc-9163bc3d4cbb", "medic_reliability": "EXCLUDED", "name": "L-citrulline", "provided_by": ["infores:medic"], "synonym": ["L-citrulline"], "xref": ["DRUGBANK:DB00155", "GTOPDB:722", "PHAROS:QF7RS3QQH7FH", "PUBCHEM.COMPOUND:9750"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16359", "medic_application_numbers": ["205750"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A05AA03"], "medic_earliest_approval_date": "20130912", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d5b7059a-8296-5f50-ae7a-0e99c5026d34", "medic_reliability": "HIGH", "medic_smiles": "C[C@H](CCC(=O)O)[C@H]1CC[C@H]2[C@@H]3[C@H](O)C[C@@H]4C[C@H](O)CC[C@]4(C)[C@H]3C[C@H](O)[C@]12C", "name": "cholic acid", "provided_by": ["infores:medic"], "synonym": ["CHOLIC ACID", "Cholic acid", "cholic acid"], "xref": ["DRUGBANK:DB02659", "GTOPDB:609", "PHAROS:UDJY45NUQ2LL", "PUBCHEM.COMPOUND:221493", "UNII:G1JO7801AE"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16382", "medic_stub": true, "name": "iodide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16414", "medic_mention_id": "MEDICNE:3d0a3535-40e5-5e0a-994d-e4c34d9a3d1b", "medic_reliability": "EXCLUDED", "name": "L-valine", "provided_by": ["infores:medic"], "synonym": ["L-valine"], "xref": ["DRUGBANK:DB00161", "UNII:HG18B9YRS7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16436", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N06BX06"], "medic_earliest_approval_date": "20070531", "medic_mention_id": "MEDICNE:f0164a75-eecf-58ec-90b8-0b4192817dbc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003116"], "medic_reliability": "HIGH", "medic_smiles": "C[N+](C)(C)CCOP(=O)(O)OP(=O)([O-])OC[C@H]1O[C@@H](n2ccc(N)nc2=O)[C@H](O)[C@@H]1O", "name": "CDP-choline", "provided_by": ["infores:medic"], "synonym": ["Citicoline"], "xref": ["DRUGBANK:DB12153"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16452", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:eee0de65-2b49-50b4-8b2e-935cd5dc9b87", "medic_reliability": "EXCLUDED", "name": "oxaloacetate(2-)", "provided_by": ["infores:medic"], "synonym": ["Oxaloacetate"], "xref": ["DRUGBANK:DB16921"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16469", "medic_application_numbers": ["210132|214293"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7f6ec924-7e02-5205-9b45-eac73aa9542e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000070)-(ГП-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Oc1ccc2c(c1)CC[C@@H]1[C@@H]2CC[C@]2(C)[C@@H](O)CC[C@@H]12", "name": "17beta-estradiol", "provided_by": ["infores:medic"], "synonym": ["ESTRADIOL", "ESTRADIOL; PROGESTERONE", "Estradiol"], "xref": ["CHEMBL.COMPOUND:CHEMBL135", "DRUGBANK:DB00783", "DrugCentral:1057", "GTOPDB:1013", "PHAROS:M3TNLZD5Z8Y9", "PUBCHEM.COMPOUND:5757", "UNII:4TI98Z838E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16480", "medic_application_numbers": ["020845|202860|203144|207141"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_atc_codes": ["R07AX01"], "medic_earliest_approval_date": "19991223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:30cab5f7-105d-5da2-8096-d0040d8c5264", "medic_reliability": "HIGH", "medic_smiles": "[N]=O", "name": "nitric oxide", "provided_by": ["infores:medic"], "synonym": ["NITRIC OXIDE", "Nitric oxide", "Nitric oxide nasal spray", "nitric oxide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200689", "DRUGBANK:DB00435", "DrugCentral:1948", "PUBCHEM.COMPOUND:145068", "UNII:31C4KY9ESH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16494", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A16AX01"], "medic_earliest_approval_date": "20080806", "medic_mention_id": "MEDICNE:95b5c4bc-401e-55b7-aebe-fe94ef813248", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006275/08"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C(O)CCCCC1CCSS1", "name": "lipoic acid", "provided_by": ["infores:medic"], "synonym": ["Lipoic acid", "Липоевая кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16526", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240126", "medic_mention_id": "MEDICNE:46114a73-ccbf-5416-b274-46e6fc06f279", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002390"], "medic_reliability": "MEDIUM", "name": "carbon dioxide", "provided_by": ["infores:medic"], "synonym": ["carbon dioxide", "углерода диоксид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16551", "medic_mention_id": "MEDICNE:215c65c1-316f-59ed-a8f4-87a583b9f00c", "medic_reliability": "EXCLUDED", "name": "alpha,alpha-trehalose", "provided_by": ["infores:medic"], "synonym": ["Trehalose"], "xref": ["DRUGBANK:DB12310"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16581", "medic_mention_id": "MEDICNE:880ff142-7a66-5759-a238-3e4eacc151e9", "medic_reliability": "EXCLUDED", "name": "pregnenolone", "provided_by": ["infores:medic"], "synonym": ["Pregnenolone"], "xref": ["CHEMBL.COMPOUND:CHEMBL253363", "DRUGBANK:DB02789", "PHAROS:MDBHY4GGM2Y3", "PUBCHEM.COMPOUND:8955"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16586", "medic_application_numbers": ["015197|015229|015230|018590|070010|070522|070888|071192|074759|075602|209060|211629|212110|212492|212494|212780|212814|212938|213213|213216|213825|213928|213944|214140|214458|215100|215374|215510|216464|216804"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["B02AA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e59b9b3e-6706-53e1-bab3-8d6b08e4bec5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000249"], "medic_reliability": "MEDIUM", "medic_smiles": "NCCCCCC(=O)O", "name": "6-aminohexanoic acid", "provided_by": ["infores:medic"], "synonym": ["AMINOCAPROIC ACID", "Aminocaproic acid", "Aminohexanoic Acid Injection", "氨基己酸注射液"], "xref": ["CHEMBL.COMPOUND:CHEMBL1046", "DRUGBANK:DB00513", "DrugCentral:163", "GTOPDB:6574", "PHAROS:5KTUQ68GTNR8", "PUBCHEM.COMPOUND:564", "UNII:U6F3787206"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16610", "medic_mention_id": "MEDICNE:868d4181-adc6-511a-b62c-16232079a299", "medic_reliability": "EXCLUDED", "name": "spermidine", "provided_by": ["infores:medic"], "synonym": ["Spermidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL19612", "DRUGBANK:DB03566", "GTOPDB:2390", "PHAROS:FLBC2PSAPDXM", "PUBCHEM.COMPOUND:1102"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16643", "medic_mention_id": "MEDICNE:26b1da48-84b5-5391-bd37-8404e77ff0e5", "medic_reliability": "EXCLUDED", "name": "L-methionine", "provided_by": ["infores:medic"], "synonym": ["L-methionine"], "xref": ["DRUGBANK:DB00134", "UNII:AE28F7PNPL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16664", "medic_application_numbers": ["020666|208094|208979|210011|210434|211034|211117|211636|213435|215652"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["P02CA03"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:965a445f-303e-563d-873b-017d6b8f2b6b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000938"], "medic_reliability": "HIGH", "medic_smiles": "CCCSc1ccc2[nH]c(NC(=O)OC)nc2c1", "name": "albendazole", "provided_by": ["infores:medic"], "synonym": ["ALBENDAZOLE", "Albendazole", "Albendazole 2.5% w/v & 10% w/v Suspension", "Albendazole 200mg/5ml Suspension", "Albendazole 400 mg + Ivermectin 6 mg tablet", "Albendazole Tablet 200mg", "Albendazole tablet 400mg and suspension 400mg/10ml (Additional Indication)"], "xref": ["DRUGBANK:DB00518"]}
{"category": ["biolink:Drug"], "id": "CHEBI:166679", "medic_application_numbers": ["022055"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20070412", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e2c89772-994d-5fe7-8bbe-0f8d80080df7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001307"], "medic_reliability": "HIGH", "name": "Retapamulin", "provided_by": ["infores:medic"], "synonym": ["RETAPAMULIN", "Retapamulin", "Retapamulin Ointment 1%", "Ретапамулин"], "xref": ["UNII:4MG6O8991R"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:16698", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20170428", "medic_mention_id": "MEDICNE:67b47975-266d-56a7-b85e-b47e8c578cf7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004268"], "medic_reliability": "MEDIUM", "medic_smiles": "N#CN", "name": "cyanamide", "provided_by": ["infores:medic"], "synonym": ["Cyanamide", "Цианамид"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16704", "medic_stub": true, "name": "uridine", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:167202", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19990317", "medic_mention_id": "MEDICNE:f29f076a-c02a-5d41-8b7a-b49b8aec98cf", "medic_reliability": "MEDIUM", "name": "nafarelin acetate", "provided_by": ["infores:medic"], "synonym": ["Nafarelin Acetate 2mg/1ml Nasal Spray"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16742", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19680430", "medic_mention_id": "MEDICNE:0be57522-7b76-55b5-9cbe-e08675fd89f6", "medic_registration_numbers": ["MOH_RUSSIA:68/333/10"], "medic_reliability": "MEDIUM", "name": "orotic acid", "provided_by": ["infores:medic"], "synonym": ["Orotic acid", "Оротовая кислота"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:167600", "medic_application_numbers": ["219155"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["D11AH11"], "medic_earliest_approval_date": "20200123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:08025c0d-4a2d-5000-bbb5-2ce279d68ce8", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1CN(C(=O)CC#N)[C@]12CCN(c1ncnc3[nH]ccc13)C2", "name": "delgocitinib", "provided_by": ["infores:medic"], "synonym": ["DELGOCITINIB", "Delgocitinib", "delgocitinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297507", "DRUGBANK:DB16133", "DrugCentral:5426", "GTOPDB:9619", "PHAROS:ZWTZNF94YLU7", "PUBCHEM.COMPOUND:50914062", "UNII:9L0Q8KK220"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:167707", "medic_application_numbers": ["210259"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EL02"], "medic_earliest_approval_date": "20171031", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:95889601-0870-5a5b-af75-3ead4105bc1b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006172"], "medic_reliability": "HIGH", "medic_smiles": "CC#CC(=O)N1CCC[C@H]1c1nc(-c2ccc(C(=O)Nc3ccccn3)cc2)c2c(N)nccn12", "name": "acalabrutinib", "provided_by": ["infores:medic"], "synonym": ["ACALABRUTINIB", "ACALABRUTINIB MALEATE", "ACALABRUTINIB MALEATE HYDRATE", "Acalabrutinib", "Acalabrutinib 100mg capsules", "acalabrutinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4747506", "DRUGBANK:DB11703", "PHAROS:XXK83BNUH8U4", "PUBCHEM.COMPOUND:121413436", "UNII:I42748ELQW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:16794", "medic_application_numbers": ["017874|078830|203753|208769|212342|215329|217893|218384"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c243f279-9457-526c-bfdf-bbfa4bf5e5f2", "medic_reliability": "HIGH", "name": "scopolamine", "provided_by": ["infores:medic"], "synonym": ["SCOPOLAMINE", "Scopolamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1187846", "DRUGBANK:DB00747", "PHAROS:W4NQGUUHZT1Y", "UNII:DL48G20X8X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16796", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia"], "medic_atc_codes": ["N05CH01"], "medic_earliest_approval_date": "19980312", "medic_mention_id": "MEDICNE:8e420d75-6bf7-533d-8405-ca0d96fdebd5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002831"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc2[nH]cc(CCNC(C)=O)c2c1", "name": "melatonin", "provided_by": ["infores:medic"], "synonym": ["MELATONIN", "Melatonin", "Melatonin 3mg Tablet", "melatonin"], "xref": ["CHEMBL.COMPOUND:CHEMBL45", "DRUGBANK:DB01065", "DrugCentral:1672", "GTOPDB:224", "PHAROS:6Z25GWWZWN5K", "PUBCHEM.COMPOUND:896", "UNII:JL5DK93RCL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16810", "medic_mention_id": "MEDICNE:6460c2d4-a3f7-56aa-a385-744fe37515bb", "medic_reliability": "EXCLUDED", "name": "2-oxoglutarate(2-)", "provided_by": ["infores:medic"], "synonym": ["Alpha-ketoglutarate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16811", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:8fede1f8-83f8-59ac-a8a0-c2514b67bb40", "medic_registration_numbers": ["MOH_RUSSIA:64/228/151"], "medic_reliability": "MEDIUM", "medic_smiles": "CSCC[C@@H](N)C(=O)O", "name": "methionine", "provided_by": ["infores:medic"], "synonym": ["Methionine", "Methionine + Phospholipids", "Метионин"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:16828", "medic_stub": true, "name": "L-tryptophan", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:168396", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091001", "medic_mention_id": "MEDICNE:1b4916e6-5151-5752-b6ae-d07fa4bd70c2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004610"], "medic_reliability": "MEDIUM", "medic_smiles": "COc1c(C)c2c(c(O)c1C/C=C(\\C)CCC(=O)[O-])C(=O)OC2.[Na+]", "name": "mycophenolic acid", "provided_by": ["infores:medic"], "synonym": ["Mycophenolic acid", "Микофеноловая кислота"], "xref": ["CHEMBL.COMPOUND:CHEMBL866", "DrugCentral:1860", "GTOPDB:6832", "PHAROS:KV1WMZTSUMNK", "PUBCHEM.COMPOUND:446541", "UNII:HU9DX48N0T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16842", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:26a78f76-b3f0-57d5-8f13-fbe358cd1ee3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001042"], "medic_reliability": "MEDIUM", "medic_smiles": "C=O", "name": "formaldehyde", "provided_by": ["infores:medic"], "synonym": ["Formaldehyde", "Формальдегид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16856", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["V03AB32"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:4f3ad383-77d5-5ff6-98ee-07260335b9a3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001337"], "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](CCC(=O)N[C@@H](CS)C(=O)NCC(=O)O)C(=O)O", "name": "glutathione", "provided_by": ["infores:medic"], "synonym": ["Glutathione", "Glutathione for Injection 600mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1543", "DRUGBANK:DB00143", "DrugCentral:1312", "PHAROS:82VDMK4PDWYL", "PUBCHEM.COMPOUND:124886", "UNII:GAN16C9B8O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16857", "medic_mention_id": "MEDICNE:28c7bf48-cc7c-50e2-b344-e5979570ba3f", "medic_reliability": "EXCLUDED", "name": "L-threonine", "provided_by": ["infores:medic"], "synonym": ["L-threonine"], "xref": ["DRUGBANK:DB00156", "UNII:2ZD004190S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:168630", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091202", "medic_mention_id": "MEDICNE:9e41ea6b-262d-5ea8-acce-448ad43f23c5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004885"], "medic_reliability": "LOW", "name": "Chlorin E6", "provided_by": ["infores:medic"], "synonym": ["Chlorine E6", "Хлорин Е6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16865", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060609", "medic_mention_id": "MEDICNE:836e7725-bd8d-55c2-84c0-b3029c523018", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006156"], "medic_reliability": "MEDIUM", "name": "gamma-aminobutyric acid", "provided_by": ["infores:medic"], "synonym": ["Gaba", "Gamma-aminobutyric acid", "Гамма-аминомасляная кислота"], "xref": ["UNII:2ACZ6IPC6I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16869", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01FA05"], "medic_earliest_approval_date": "20051209", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:a1a95036-75b9-5866-a18c-7c85825ea313", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002727"], "medic_reliability": "MEDIUM", "medic_smiles": "CO[C@H]1C[C@H](O[C@H]2[C@H](C)[C@@H](O[C@@H]3O[C@H](C)C[C@H](N(C)C)[C@H]3O)[C@@H](C)C[C@@]3(CO3)C(=O)[C@H](C)[C@@H](O)[C@@H](C)[C@@H](C)OC(=O)[C@@H]2C)O[C@@H](C)[C@@H]1O", "name": "oleandomycin", "provided_by": ["infores:medic"], "synonym": ["Oleandomycin", "Oleandomycin + Tetracycline", "Олеандомицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16870", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:fe14022c-4827-5619-af87-77aebfa280fc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000715"], "medic_reliability": "MEDIUM", "name": "choline alfoscerate", "provided_by": ["infores:medic"], "synonym": ["Choline alfoscerate", "L-alpha-glycerophosphocholine", "Холина альфосцерат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16898", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:050a8201-f03c-5b55-8ebb-93e5f36a842a", "medic_reliability": "MEDIUM", "name": "pyrimidine", "provided_by": ["infores:medic"], "synonym": ["Pyrimidine (0.5gm) Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16899", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A06AD16", "B05BC01", "B05CX04", "R05CB16", "V04CX04"], "medic_earliest_approval_date": "19990714", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:5850a3dd-abdd-5f98-8e4c-68b0005208d7", "medic_registration_numbers": ["MOH_RUSSIA:99/280/13"], "medic_reliability": "HIGH", "medic_smiles": "OC[C@@H](O)[C@@H](O)[C@H](O)[C@H](O)CO", "name": "D-mannitol", "provided_by": ["infores:medic"], "synonym": ["Mannitol", "Potassium Chloride + Magnesium Sulfate + Mannitol"], "xref": ["DRUGBANK:DB00742"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16908", "medic_mention_id": "MEDICNE:f5668bfb-2be5-59af-b8e6-f66bfa3da4ab", "medic_reliability": "EXCLUDED", "name": "NADH", "provided_by": ["infores:medic"], "synonym": ["Nadh"], "xref": ["DRUGBANK:DB00157", "UNII:4J24DQ0916"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16914", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["D01AE12", "S01BC08"], "medic_earliest_approval_date": "19640430", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:109fc783-a6c6-5f27-a4a4-7df1db887b1a", "medic_registration_numbers": ["MOH_RUSSIA:64/228/112"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1ccccc1O", "name": "salicylic acid", "provided_by": ["infores:medic"], "synonym": ["Methyl prednisolone aceponate-1mg + salicylic acid-50mg ointment", "Mometasone + Salicylic Acid", "Salicylic Acid + Cetyl Alcohol + Stearyl Alcohol (2% + 2.65% + 0.26%) Lotion", "Salicylic Acid + Coal Tar (3% + 1%) Solution", "Salicylic Acid + Flumethasone", "Salicylic Acid + Lactic Acid + Lauromacrogol 400", "Salicylic Acid + Lactic Acid + Polydocanol 600", "Salicylic Acid + Zinc Oxide", "Salicylic acid", "Salicylic acid (topical)", "Salicylic acid 10mg/20mg (Foaming facewash solution)"], "xref": ["CHEMBL.COMPOUND:CHEMBL424", "DRUGBANK:DB00936", "DrugCentral:2416", "GTOPDB:4306", "PHAROS:FBKFP3SAJZML", "PUBCHEM.COMPOUND:338", "UNII:O414PZ4LPZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16919", "medic_mention_id": "MEDICNE:9212bda8-bc1f-5dc7-b253-12e35ceb158f", "medic_reliability": "EXCLUDED", "medic_smiles": "CN(CC(=O)O)C(=N)N", "name": "creatine", "provided_by": ["infores:medic"], "synonym": ["Creatine"], "xref": ["DRUGBANK:DB00148"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16958", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111026", "medic_mention_id": "MEDICNE:06c337a6-d16e-5070-a74f-4090f933a72a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003982"], "medic_reliability": "HIGH", "name": "beta-alanine", "provided_by": ["infores:medic"], "synonym": ["Beta-alanine"], "xref": ["DRUGBANK:DB03107"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16962", "medic_application_numbers": ["007110|007750|008126|008284|009458|080333|080341|080493|080630|080694|080731|080776|080836|083147|083471|083536|084246|085677|085736|085884"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ffbcd379-2a35-5bfa-b615-efa3abb026a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009277)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CCC(=O)C=C1CC[C@@H]1[C@@H]2C(=O)C[C@@]2(C)[C@H]1CC[C@]2(O)C(=O)CO", "name": "cortisone", "provided_by": ["infores:medic"], "synonym": ["CORTISONE ACETATE", "Cortisone", "Cortisone acetate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1499", "DRUGBANK:DB01380", "PHAROS:62N9QP95TGAF", "PUBCHEM.COMPOUND:222786", "UNII:V27W9254FZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:169727", "medic_application_numbers": ["005319"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AD04"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:47ed0f49-dcaa-5a76-965b-776fbf48ad54", "medic_reliability": "HIGH", "name": "Iophendylate", "provided_by": ["infores:medic"], "synonym": ["IOPHENDYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16973", "medic_application_numbers": ["001104|005151"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f57f460a-3676-545e-9d62-8c3b93f670f8", "medic_reliability": "HIGH", "name": "11-deoxycorticosterone", "provided_by": ["infores:medic"], "synonym": ["DESOXYCORTICOSTERONE ACETATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16977", "medic_mention_id": "MEDICNE:58bf17ae-eb05-528e-8690-d3fd17c44f96", "medic_reliability": "EXCLUDED", "name": "L-alanine", "provided_by": ["infores:medic"], "synonym": ["L-alanine"], "xref": ["DRUGBANK:DB00160", "GTOPDB:720", "PHAROS:G5LBCJF3K3WF", "PUBCHEM.COMPOUND:5950"]}
{"category": ["biolink:Drug"], "id": "CHEBI:16988", "medic_mention_id": "MEDICNE:f069cbbd-b5e2-585a-bdf1-d8bcbb2ea1a3", "medic_reliability": "EXCLUDED", "name": "D-ribose", "provided_by": ["infores:medic"], "synonym": ["D-ribose"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:170007", "medic_application_numbers": ["217188"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20220128", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8eaba167-62c6-5dcb-a874-05e53fdc5129", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008288"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)[C@H](NC(=O)C(F)(F)F)C(=O)N1C[C@H]2[C@@H]([C@H]1C(=O)N[C@H](C#N)C[C@@H]1CCNC1=O)C2(C)C", "name": "nirmatrelvir", "provided_by": ["infores:medic"], "synonym": ["NIRMATRELVIR; RITONAVIR", "Nirmatrelvir", "nirmatrelvir;ritonavir"], "xref": ["DRUGBANK:DB16691", "UNII:7R9A5P7H32"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17015", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19731130", "medic_mention_id": "MEDICNE:4242ca3c-0de5-5bd7-95df-24a630b60064", "medic_registration_numbers": ["MOH_RUSSIA:73/941/28"], "medic_reliability": "HIGH", "medic_smiles": "CCCC(=O)OC[C@@H](OC(=O)CCC)[C@@H](OC(=O)CCC)[C@H](Cn1c2nc(=O)[nH]c(=O)c-2nc2cc(C)c(C)cc21)OC(=O)CCC", "name": "riboflavin", "provided_by": ["infores:medic"], "synonym": ["Riboflavin", "Riboflavin Ophthalmic Solution 0.1%"], "xref": ["DRUGBANK:DB00140", "UNII:TLM2976OFR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17020", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19930906", "medic_mention_id": "MEDICNE:87be67de-1cec-54aa-95af-786a7318b20b", "medic_reliability": "MEDIUM", "name": "glucomannan", "provided_by": ["infores:medic"], "synonym": ["Glucomannan 0.75gm/1.0gm/1.3gm Sachet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:17026", "medic_application_numbers": ["009238|017362|017553|019781|020701|022057|075906|090845|091033|200456|200900|201110|202121|205229|207724|208801|210965|211285|215634|217707|218391"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["G03DA04"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:635c91c0-6309-5a2a-973c-53f5c7182cc4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000284"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[C@H]1CC[C@H]2[C@@H]3CCC4=CC(=O)CC[C@]4(C)[C@H]3CC[C@]12C", "name": "progesterone", "provided_by": ["infores:medic"], "synonym": ["PROGESTERONE", "Progesterone", "Progesterone Injection (II)"], "xref": ["CHEMBL.COMPOUND:CHEMBL103", "DRUGBANK:DB00396", "DrugCentral:2279", "GTOPDB:2377", "PHAROS:MD4GF5A4W2UC", "PUBCHEM.COMPOUND:5994", "UNII:4G7DS2Q64Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17045", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N01AX13", "N01AX63"], "medic_earliest_approval_date": "20071106", "medic_mention_id": "MEDICNE:b0ab4a40-d329-526b-bc70-1b4c79360ba4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004075"], "medic_reliability": "MEDIUM", "medic_smiles": "[N-]=[N+]=O", "name": "dinitrogen oxide", "provided_by": ["infores:medic"], "synonym": ["Dinitrogen oxide", "Nitrous oxide", "Динитрогена оксид"], "xref": ["DRUGBANK:DB06690"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17051", "medic_stub": true, "name": "fluoride", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17053", "medic_stub": true, "name": "L-aspartic acid", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:17076", "medic_application_numbers": ["060076|060107|060111|060404|060684|064210"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A07AA04", "J01GA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:81523a6d-4124-5048-b162-6d6bdf34e957", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003032"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@@H]1[C@H](O[C@H]2[C@H](O[C@H]3[C@H](O)[C@@H](O)[C@H](N=C(N)N)[C@@H](O)[C@@H]3N=C(N)N)O[C@@H](C)[C@]2(O)C=O)O[C@@H](CO)[C@H](O)[C@H]1O.CN[C@@H]1[C@H](O[C@H]2[C@H](O[C@H]3[C@H](O)[C@@H](O)[C@H](N=C(N)N)[C@@H](O)[C@@H]3N=C(N)N)O[C@@H](C)[C@]2(O)C=O)O[C@@H](CO)[C@H](O)[C@H]1O.O=S(=O)(O)O.O=S(=O)(O)O.O=S(=O)(O)O", "name": "streptomycin", "provided_by": ["infores:medic"], "synonym": ["STREPTOMYCIN SULFATE", "Streptomycin"], "xref": ["DRUGBANK:DB01082", "UNII:Y45QSO73OB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17115", "medic_mention_id": "MEDICNE:f430ebbb-afbd-54eb-bfd2-2daab5c62d62", "medic_reliability": "EXCLUDED", "name": "L-serine", "provided_by": ["infores:medic"], "synonym": ["L-serine"], "xref": ["DRUGBANK:DB00133", "GTOPDB:726", "PHAROS:Z2WBU93255RU", "PUBCHEM.COMPOUND:5951", "UNII:452VLY9402"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17126", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19810710", "medic_mention_id": "MEDICNE:07af53cb-24fb-5ac0-bc2d-46213368a406", "medic_registration_numbers": ["MOH_RUSSIA:81/761/2"], "medic_reliability": "MEDIUM", "medic_smiles": "C[N+](C)(C)CC(O)CC(=O)[O-]", "name": "carnitine", "provided_by": ["infores:medic"], "synonym": ["Carnitine", "Карнитин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:17141", "medic_application_numbers": ["020392|203389|213491"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19940815", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b2b9dbd-9341-5759-9ffa-291036e481dc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011240)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Cl.NCCS", "name": "cysteamine", "provided_by": ["infores:medic"], "synonym": ["CYSTEAMINE BITARTRATE", "CYSTEAMINE HYDROCHLORIDE", "Cysteamine", "Mercaptamine bitartrate", "mercaptamine", "mercaptamine bitartrate"], "xref": ["DRUGBANK:DB00847", "UNII:5UX2SD1KE2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17148", "medic_mention_id": "MEDICNE:4f339af2-1408-5f70-9e8b-66c6a4d48db4", "medic_reliability": "EXCLUDED", "name": "putrescine", "provided_by": ["infores:medic"], "synonym": ["Putrescine"], "xref": ["DRUGBANK:DB01917", "GTOPDB:2388", "PHAROS:21CR1KKJK2U9", "PUBCHEM.COMPOUND:1045"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17151", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20150903", "medic_mention_id": "MEDICNE:6f7b0128-706b-5d81-979d-5f02c63b463a", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001191"], "medic_reliability": "HIGH", "name": "xylitol", "provided_by": ["infores:medic"], "synonym": ["Xylitol"], "xref": ["DRUGBANK:DB11195", "UNII:VCQ006KQ1E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17154", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["A11HA01"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:b96eb99d-dcee-597b-b3d3-283e51f7c73c", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000006"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)c1cccnc1", "name": "nicotinamide", "provided_by": ["infores:medic"], "synonym": ["Nicotinamide", "Nicotinamide Hydrochloride"], "xref": ["DRUGBANK:DB02701", "UNII:25X51I8RD4"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17160", "medic_stub": true, "name": "17alpha-estradiol", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17191", "medic_mention_id": "MEDICNE:df7d10c3-57dc-581f-8c95-13d585d673ea", "medic_reliability": "EXCLUDED", "name": "L-isoleucine", "provided_by": ["infores:medic"], "synonym": ["L-isoleucine"], "xref": ["DRUGBANK:DB00167"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17196", "medic_mention_id": "MEDICNE:9aa93d12-a8c8-5201-91df-cff3fb2d32eb", "medic_reliability": "EXCLUDED", "name": "L-asparagine", "provided_by": ["infores:medic"], "synonym": ["L-asparagine"], "xref": ["DRUGBANK:DB00174"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17203", "medic_mention_id": "MEDICNE:8952555c-04cf-51eb-b61f-c54260416d4d", "medic_reliability": "EXCLUDED", "name": "L-proline", "provided_by": ["infores:medic"], "synonym": ["L-proline"], "xref": ["DRUGBANK:DB00172", "UNII:9DLQ4CIU6V"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:17234", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["B05CX01", "C05BB56", "V04CA02", "V06DC01"], "medic_earliest_approval_date": "20080919", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT", "CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:cc4b3180-0a65-5f28-8f69-cb8255fce098", "medic_registration_numbers": ["MOH_RUSSIA:Р N001862/01-2002"], "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1OC(O)[C@H](O)[C@@H](O)[C@@H]1O", "name": "glucose", "provided_by": ["infores:medic"], "synonym": ["GLUCOSE", "Glucose"], "xref": ["DRUGBANK:DB01914"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17246", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220714", "medic_mention_id": "MEDICNE:713e8af7-f8f5-52ad-a799-02b755ffba48", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002294"], "medic_reliability": "MEDIUM", "name": "poly(vinyl alcohol) macromolecule", "provided_by": ["infores:medic"], "synonym": ["Polyvinyl alcohol", "Поливиниловый спирт"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17252", "medic_stub": true, "name": "17alpha-hydroxyprogesterone", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17263", "medic_application_numbers": ["003977|083397|083488|085237|085239"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["G03CA07", "G03CC04"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b15ece6d-ae8c-5194-96b3-4ad73df8c579", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@@H]3c4ccc(O)cc4CC[C@H]3[C@@H]1CCC2=O", "name": "estrone", "provided_by": ["infores:medic"], "synonym": ["ESTRONE", "Estrone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1405", "DRUGBANK:DB00655", "DrugCentral:3188", "GTOPDB:2818", "PHAROS:M3SWMTZ32PK9", "PUBCHEM.COMPOUND:5870", "UNII:2DI9HA706A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17268", "medic_mention_id": "MEDICNE:1013f70e-a6cb-5981-a239-23fdc1ced609", "medic_reliability": "EXCLUDED", "name": "myo-inositol", "provided_by": ["infores:medic"], "synonym": ["Inositol"], "xref": ["DRUGBANK:DB13178"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17272", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120504", "medic_mention_id": "MEDICNE:37c4b94a-90b0-5cc2-87e6-fb21431dfb0c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001702"], "medic_reliability": "HIGH", "name": "propionate", "provided_by": ["infores:medic"], "synonym": ["(3-Oxoandrost-4-en-17beta-yl)propionate", "Propionate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17287", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C01EB06"], "medic_earliest_approval_date": "20081124", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:ef4779c2-5bc2-5a1b-8186-3af2c049bd02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004179"], "medic_reliability": "MEDIUM", "medic_smiles": "CN(CC(=O)O)C(=N)NP(=O)(O)O", "name": "N-phosphocreatine", "provided_by": ["infores:medic"], "synonym": ["Phosphocreatine", "Фосфокреатин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:172943", "medic_application_numbers": ["210251"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20180207", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:728eabc1-32dd-50f4-8c87-eb9bc9541073", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006054"], "medic_reliability": "HIGH", "name": "bictegravir", "provided_by": ["infores:medic"], "synonym": ["BICTEGRAVIR SODIUM", "BICTEGRAVIR SODIUM; EMTRICITABINE; TENOFOVIR ALAFENAMIDE FUMARATE", "Bictegravir", "Bictegravir + Tenofovir alafenamide + Emtricitabine", "bictegravir;emtricitabine;tenofovir alafenamide"], "xref": ["DRUGBANK:DB11799", "UNII:8GB79LOJ07"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:172944", "medic_application_numbers": ["215499"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["J05AJ04"], "medic_earliest_approval_date": "20201217", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f1d4d696-4e12-5f4e-9c05-e6766d47ceb2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001504)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1CO[C@@H]2Cn3cc(C(=O)NCc4ccc(F)cc4F)c(=O)c(O)c3C(=O)N12", "name": "cabotegravir", "provided_by": ["infores:medic"], "synonym": ["CABOTEGRAVIR", "CABOTEGRAVIR SODIUM", "CABOTEGRAVIR; RILPIVIRINE", "Cabotegravir", "cabotegravir"], "xref": ["DRUGBANK:DB11751", "UNII:HMH0132Z1Q"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:173082", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20240326", "medic_mention_id": "MEDICNE:f152d4e7-561f-5f17-8fe1-ecdbf743e789", "medic_reliability": "HIGH", "name": "aceneuramic acid", "provided_by": ["infores:medic"], "synonym": ["ACENEURAMIC ACID"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17309", "medic_stub": true, "name": "pectin", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17310", "medic_stub": true, "name": "pyridoxal", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:173104", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20160512", "medic_mention_id": "MEDICNE:55112c59-cea9-5900-9e9c-9a94535c3991", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003622"], "medic_reliability": "MEDIUM", "name": "narlaprevir", "provided_by": ["infores:medic"], "synonym": ["Narlaprevir", "Нарлапревир"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:17351", "medic_mention_id": "MEDICNE:d3e4ece1-430d-55fd-bd1b-9898089c7ce3", "medic_reliability": "EXCLUDED", "name": "linoleic acid", "provided_by": ["infores:medic"], "synonym": ["Linoleic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL267476,CHEMBL3122088", "DRUGBANK:DB14104", "DrugCentral:3323", "GTOPDB:1052", "PHAROS:441TNZQ7HKW4", "PUBCHEM.COMPOUND:5280450,23684895", "UNII:9KJL21T0QJ"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17359", "medic_stub": true, "name": "sulfite", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17376", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081014", "medic_mention_id": "MEDICNE:e50a7498-0983-5ad4-9fb0-94ef9d606fc7", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-008112/08"], "medic_reliability": "MEDIUM", "name": "cystine", "provided_by": ["infores:medic"], "synonym": ["Cystine", "Цистин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17394", "medic_mention_id": "MEDICNE:bbd3421c-c05c-5137-9105-2f76b5f30868", "medic_reliability": "EXCLUDED", "name": "N(5)-ethyl-L-glutamine", "provided_by": ["infores:medic"], "synonym": ["L-theanine"], "xref": ["DRUGBANK:DB12444"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17431", "medic_mention_id": "MEDICNE:2c224ad2-8fd8-50eb-b455-c64318c29913", "medic_reliability": "EXCLUDED", "name": "agmatine", "provided_by": ["infores:medic"], "synonym": ["Agmatine"], "xref": ["DRUGBANK:DB08838", "GTOPDB:4127", "PHAROS:5H91Y5RSD32B", "PUBCHEM.COMPOUND:199"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:174442", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:567ea1b3-d8e2-59dd-af40-a644930dcbb4", "medic_reliability": "MEDIUM", "name": "Carbadox", "provided_by": ["infores:medic"], "synonym": ["Carbadox (For Veterinary Use)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:174690", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R03AC14", "R03CC13"], "medic_earliest_approval_date": "20071017", "medic_mention_id": "MEDICNE:2cef9290-f068-55af-b066-5bbfbd7aca17", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001173"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)NCC(O)c1cc(Cl)c(N)c(Cl)c1", "name": "clenbuterol", "provided_by": ["infores:medic"], "synonym": ["Clenbuterol"], "xref": ["CHEMBL.COMPOUND:CHEMBL49080", "DRUGBANK:DB01407", "PHAROS:3PYL7VHCQGC3", "PUBCHEM.COMPOUND:2783"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17486", "medic_mention_id": "MEDICNE:71072e0d-b23b-57a8-a242-0226b2e2f37e", "medic_reliability": "EXCLUDED", "name": "(S)-atropine", "provided_by": ["infores:medic"], "synonym": ["Hyoscyamine"], "xref": ["DRUGBANK:DB00424", "UNII:PX44XO846X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17533", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080318", "medic_mention_id": "MEDICNE:59e6b00c-3f86-59c5-988b-5f03bef403a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001909/08"], "medic_reliability": "MEDIUM", "name": "N-acetyl-L-glutamic acid", "provided_by": ["infores:medic"], "synonym": ["N-Acetyl-L-Glutamic Acid", "N-Ацетил-L-Глутаминовая кислота"], "xref": ["CHEMBL.COMPOUND:CHEMBL1234751", "PHAROS:ZFC8ZPVWUFSS", "PUBCHEM.COMPOUND:70914"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17544", "medic_stub": true, "name": "hydrogencarbonate", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:17549", "medic_application_numbers": ["020965|208081|208630"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19991203", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:79719884-7e6d-55a0-8cd3-294f2d8714ad", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001848"], "medic_reliability": "HIGH", "medic_smiles": "Cl.NCC(=O)CCC(=O)O", "name": "5-aminolevulinic acid", "provided_by": ["infores:medic"], "synonym": ["5-Aminolevulinic acid hydrochloride", "5-aminolevulinic acid hydrochloride", "AMINOLEVULINIC ACID HYDROCHLORIDE", "Aminolevulinic acid"], "xref": ["DRUGBANK:DB00855", "UNII:88755TAZ87"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17561", "medic_mention_id": "MEDICNE:217ee493-4000-5d47-9afc-4e2feafdf5a9", "medic_reliability": "EXCLUDED", "name": "L-cysteine", "provided_by": ["infores:medic"], "synonym": ["L-cysteine"], "xref": ["DRUGBANK:DB00151", "UNII:K848JZ4886"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17562", "medic_mention_id": "MEDICNE:a2c8a995-2f44-5f87-bd7b-be53f6c47e03", "medic_reliability": "EXCLUDED", "name": "cytidine", "provided_by": ["infores:medic"], "synonym": ["Cytidine"], "xref": ["DRUGBANK:DB02097"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:17606", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D08AG03"], "medic_earliest_approval_date": "19991220", "medic_mention_id": "MEDICNE:367b97b5-2187-59cc-b945-5695c174116f", "medic_registration_numbers": ["MOH_RUSSIA:99/445/1"], "medic_reliability": "MEDIUM", "medic_smiles": "II", "name": "diiodine", "provided_by": ["infores:medic"], "synonym": ["Iodine", "Iodine + Potassium Iodide", "Iodine+[Potassium Iodide+Glycerol]", "Йод"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:176233", "medic_stub": true, "name": "Tocophersolan", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17632", "medic_stub": true, "name": "nitrate", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177631", "medic_application_numbers": ["022474|207952"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20090515", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0cf1c5e4-68a2-5814-91eb-8718f411d278", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002000"], "medic_reliability": "HIGH", "name": "Ulipristal", "provided_by": ["infores:medic"], "synonym": ["ULIPRISTAL ACETATE", "Ulipristal", "ulipristal acetate"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103846,CHEMBL260538", "DRUGBANK:DB08867", "DrugCentral:4166", "GTOPDB:7460", "PHAROS:SQMHQGH31URQ", "PUBCHEM.COMPOUND:13559281,130904", "UNII:6J5J15Q2X8", "UNII:YF7V70N02B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177658", "medic_application_numbers": ["215904"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N03AX27"], "medic_earliest_approval_date": "20220601", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:47de3ee2-1e2c-53b0-89b6-f5e03d6b691a", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[C@H]1CC[C@H]2[C@@H]3CC[C@H]4C[C@](C)(O)CC[C@]4(C)[C@H]3CC[C@]12C", "name": "Ganaxolone", "provided_by": ["infores:medic"], "synonym": ["GANAXOLONE", "Ganaxolone"], "xref": ["DRUGBANK:DB05087", "UNII:98WI44OHIQ"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177703", "medic_application_numbers": ["207795|217387"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["S01EE06"], "medic_earliest_approval_date": "20171102", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e422bd4f-dc28-5173-9475-01c2d847fdc0", "medic_reliability": "HIGH", "medic_smiles": "O=C(CCC/C=C\\C[C@@H]1[C@@H](CC[C@@H](O)CCc2ccccc2)[C@H](O)C[C@@H]1O)OCCCCO[N+](=O)[O-]", "name": "Latanoprostene bunod", "provided_by": ["infores:medic"], "synonym": ["LATANOPROSTENE BUNOD", "Latanoprostene bunod"], "xref": ["CHEMBL.COMPOUND:CHEMBL2364612", "DRUGBANK:DB11660", "DrugCentral:5261", "GTOPDB:9635", "PHAROS:5BT9PCBGVA4X", "PUBCHEM.COMPOUND:11156438", "UNII:I6393O0922"]}
{"category": ["biolink:Drug"], "id": "CHEBI:177726", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240618", "medic_mention_id": "MEDICNE:8cdb8dd7-f4a1-5207-90c0-e1e61c5a7b79", "medic_reliability": "LOW", "name": "flordipine", "provided_by": ["infores:medic"], "synonym": ["Clordipine Emulsion for Injection", "氯维地平乳状注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177758", "medic_application_numbers": ["209816|209817"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20181002", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b8849ef9-69dd-55b1-b637-07e5b04ae4a8", "medic_reliability": "HIGH", "name": "Omadacycline", "provided_by": ["infores:medic"], "synonym": ["OMADACYCLINE TOSYLATE", "Omadacycline"], "xref": ["DRUGBANK:DB12455", "UNII:090IP5RV8F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:177790", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:293eb83a-ef28-5de0-aea7-09fcfa55aad3", "medic_reliability": "HIGH", "medic_smiles": "Cc1c(Cl)cc(C(C)C)c(O)c1Cc1c(C)c(Cl)cc(C(C)C)c1O", "name": "biclotymol", "provided_by": ["infores:medic"], "synonym": ["Biclotymol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:177795", "medic_mention_id": "MEDICNE:9524ce6b-f0bf-537b-87b8-7223967b6800", "medic_reliability": "EXCLUDED", "name": "clobetasone", "provided_by": ["infores:medic"], "synonym": ["Clobetasone"], "xref": ["DRUGBANK:DB13158"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177804", "medic_application_numbers": ["211109"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20180827", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:01227823-7c09-51a0-a0e3-44fc832f571c", "medic_reliability": "HIGH", "name": "Eravacycline", "provided_by": ["infores:medic"], "synonym": ["ERAVACYCLINE DIHYDROCHLORIDE", "Eravacycline"], "xref": ["DRUGBANK:DB12329", "UNII:07896928ZC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:177849", "medic_application_numbers": ["210557"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20190621", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9be7cb2c-d7df-5047-9924-9c389b80cab4", "medic_reliability": "HIGH", "name": "bremelanotide", "provided_by": ["infores:medic"], "synonym": ["BREMELANOTIDE ACETATE", "Bremelanotide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2070241", "DRUGBANK:DB11653", "DrugCentral:5329", "PHAROS:V856R6818CCX", "PUBCHEM.COMPOUND:9941379", "UNII:6Y24O4F92S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:177858", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20160504", "medic_mention_id": "MEDICNE:c37584ba-4210-5b1c-8100-79c8f1d444f1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003598"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C([C@@H]1C[C@H](N2CCN(c3ncccn3)CC2)CN1)N1CCC(F)(F)C1", "name": "gosogliptin", "provided_by": ["infores:medic"], "synonym": ["Gozogliptin", "Гозоглиптин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:178199", "medic_application_numbers": ["214665"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01XX73"], "medic_earliest_approval_date": "20210528", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8b777139-75dc-53a5-8b5c-63e6e733a267", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002763)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C=CC(=O)N1CCN(c2nc(=O)n(-c3c(C)ccnc3C(C)C)c3nc(-c4c(O)cccc4F)c(F)cc23)[C@@H](C)C1", "name": "sotorasib", "provided_by": ["infores:medic"], "synonym": ["SOTORASIB", "Sotoracib", "Sotorasib", "Sotorasib 240mg Film Coated Tablets.", "sotorasib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4535757", "DRUGBANK:DB15569", "DrugCentral:5461", "PHAROS:LF7VU6GRRSN3", "PUBCHEM.COMPOUND:137278711", "UNII:2B2VM6UC8G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:17823", "medic_application_numbers": ["018044|018874|021068|022087|075746|075765|075766|075816|075823|075836|076206|076242|076917|077102|078066|091174|091356|203289|203973|204556|209798|211030|219796"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["A11CC04", "D05AX03"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9aacc690-b3e5-5210-9243-94d99bb4f352", "medic_registration_numbers": ["MOH_RUSSIA:П N014565/01"], "medic_reliability": "HIGH", "medic_smiles": "C=C1/C(=C\\C=C2/CCC[C@]3(C)[C@@H]([C@H](C)CCCC(C)(C)O)CC[C@@H]23)C[C@@H](O)C[C@@H]1O", "name": "calcitriol", "provided_by": ["infores:medic"], "synonym": ["CALCITRIOL", "Calcitriol", "Calcitriol + Calcium + Zinc (0.25mcg + 200mg + 7.5mg) Capsules", "Calcitriol Capsules"], "xref": ["CHEMBL.COMPOUND:CHEMBL846", "DrugCentral:466", "PHAROS:Z76A2NMDKVNP", "PUBCHEM.COMPOUND:5280453", "UNII:FXC9231JVH"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:17824", "medic_application_numbers": ["210872"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D08AX05"], "medic_earliest_approval_date": "20190426", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:28e93de7-50e5-5543-8741-3fa00668cdd6", "medic_reliability": "HIGH", "medic_smiles": "CC(C)O", "name": "propan-2-ol", "provided_by": ["infores:medic"], "synonym": ["ISOPROPYL ALCOHOL"], "xref": ["UNII:ND2M416302"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17833", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060317", "medic_mention_id": "MEDICNE:1387985f-892f-511d-b86b-13fed4adc9f3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007168"], "medic_reliability": "HIGH", "medic_smiles": "CNC(C)[C@@H]1CC[C@@H](N)[C@@H](O[C@H]2[C@H](O)[C@@H](O[C@H]3OC[C@](C)(O)[C@H](NC)[C@H]3O)[C@H](N)C[C@@H]2N)O1", "name": "gentamycin", "provided_by": ["infores:medic"], "synonym": ["Gentamicin", "Gentamicin + Dexamethasone", "Gentamicin + Dexpanthenol + Mometasone + Econazole"], "xref": ["DRUGBANK:DB00798", "GTOPDB:2427", "PHAROS:DR47YA5R4BCS", "PUBCHEM.COMPOUND:3467"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:178699", "medic_application_numbers": ["019357"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19881222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f75fd5a5-3e76-5158-a84c-0543d8c36dcb", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCC/C=C\\CCCCCCCC(=O)O.NCCO", "name": "Ethanolamine Oleate", "provided_by": ["infores:medic"], "synonym": ["ETHANOLAMINE OLEATE", "Ethanolamine oleate"], "xref": ["DRUGBANK:DB06689"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17883", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20150101", "medic_mention_id": "MEDICNE:b90b6206-f3e9-5e63-9f4d-8bc52e23518d", "medic_reliability": "HIGH", "name": "hydrogen chloride", "provided_by": ["infores:medic"], "synonym": ["Hydrochloride"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17895", "medic_application_numbers": ["008378"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c09a5fb4-16a0-51ca-a2a0-ec1808d7e2d5", "medic_reliability": "HIGH", "name": "L-tyrosine", "provided_by": ["infores:medic"], "synonym": ["L-tyrosine", "NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; TYROSINE"], "xref": ["DRUGBANK:DB00135", "UNII:42HK56048U"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17905", "medic_stub": true, "name": "coenzyme M", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17941", "medic_application_numbers": ["010656"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["S01EB07"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:152aef9e-55a3-5913-aef9-479c186d75e0", "medic_reliability": "HIGH", "medic_smiles": "CC(C)OP(=O)(F)OC(C)C", "name": "diisopropyl fluorophosphate", "provided_by": ["infores:medic"], "synonym": ["ISOFLUROPHATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1025", "DrugCentral:1494", "PHAROS:DAV4SGX7MXB6", "PUBCHEM.COMPOUND:5936", "UNII:12UHW9R67N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17948", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120827", "medic_mention_id": "MEDICNE:49e48e05-b6e6-5ce8-8198-a2ce3dfb0b2b", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000388"], "medic_reliability": "MEDIUM", "name": "(+)-taxifolin", "provided_by": ["infores:medic"], "synonym": ["Dihydroquercetin", "Дигидрокверцетин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17968", "medic_mention_id": "MEDICNE:07a4c395-817b-5232-9131-1228c19a55a8", "medic_reliability": "EXCLUDED", "name": "butyrate", "provided_by": ["infores:medic"], "synonym": ["Butyrate"], "xref": ["DRUGBANK:DB03568"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17976", "medic_mention_id": "MEDICNE:8d7e6db3-392b-5e4d-b725-950c0b0186b5", "medic_reliability": "EXCLUDED", "name": "ubiquinol", "provided_by": ["infores:medic"], "synonym": ["Ubiquinol"], "xref": ["DRUGBANK:DB11340"]}
{"category": ["biolink:Drug"], "id": "CHEBI:17987", "medic_application_numbers": ["022129"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["P03AX06"], "medic_earliest_approval_date": "20090409", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9032f064-1736-5c64-a24b-8a9b8a2f7512", "medic_reliability": "HIGH", "medic_smiles": "OCc1ccccc1", "name": "benzyl alcohol", "provided_by": ["infores:medic"], "synonym": ["BENZYL ALCOHOL"], "xref": ["UNII:LKG8494WBH"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:17996", "medic_stub": true, "name": "chloride", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:180473", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:e2753755-4f90-5325-a49d-29f13ef56fe7", "medic_reliability": "MEDIUM", "name": "galanthamine hydrobromide", "provided_by": ["infores:medic"], "synonym": ["Galantamine Hydrobromide Orally Disintegrating Tablets", "Galanthamine Hydrobromide Tablet & Injection"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18050", "medic_application_numbers": ["021667|208587|215647"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A16AA03"], "medic_earliest_approval_date": "20040610", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:12ab016e-868b-5ead-9733-67c3b6fe3878", "medic_reliability": "HIGH", "medic_smiles": "NC(=O)CC[C@H](N)C(=O)O", "name": "L-glutamine", "provided_by": ["infores:medic"], "synonym": ["L-GLUTAMINE"], "xref": ["GTOPDB:723", "PHAROS:QB951RW7GUA9", "PUBCHEM.COMPOUND:5961"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18059", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210218", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:86e9f837-1039-5313-b416-7730f7e2e53d", "medic_reliability": "MEDIUM", "name": "lipid", "provided_by": ["infores:medic"], "synonym": ["Lipid Emulsion Injection (C14–24)", "脂肪乳注射液（C14～24）"]}
{"category": ["biolink:Drug"], "id": "CHEBI:180653", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["J05AB18"], "medic_earliest_approval_date": "20211228", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:04a9cf0f-2f7f-5b7a-8c01-325d5c8027e0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007856"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C(=O)OC[C@H]1O[C@@H](n2cc/c(=N\\O)[nH]c2=O)[C@H](O)[C@@H]1O", "name": "molnupiravir", "provided_by": ["infores:medic"], "synonym": ["Molnupiravir", "Molnupiravir bulk and Molnupiravir capsules 200mg"], "xref": ["DRUGBANK:DB15661"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18067", "medic_application_numbers": ["010104|011745|012223|083722|084060|087954|087955|087956|207719|209373|210189|212112|212424|213329|213336|214596|214966|215090|216444|216601|216852|217386|219212|220454"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c67d5785-3b19-5acd-a631-724c6285f729", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001428)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "phylloquinone", "provided_by": ["infores:medic"], "synonym": ["PHYTONADIONE", "Phytomenadione", "Phytonadione"], "xref": ["UNII:A034SE7857"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18070", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080909", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:1ef7fd5c-f807-500d-83e8-4686d35704d0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000631"], "medic_reliability": "MEDIUM", "name": "cytochrome c", "provided_by": ["infores:medic"], "synonym": ["Cytochrome C", "Цитохром С"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18089", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220614", "medic_mention_id": "MEDICNE:0b96cba0-5649-5eb7-afbd-60499209b157", "medic_reliability": "MEDIUM", "name": "N-benzoylglycine", "provided_by": ["infores:medic"], "synonym": ["Hippuric Acid and Urotropine Tablets", "马尿酸乌洛托品片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18095", "medic_mention_id": "MEDICNE:43f1af9c-dd43-5d2d-afaf-56486b3caf21", "medic_reliability": "EXCLUDED", "name": "trans-4-hydroxy-L-proline", "provided_by": ["infores:medic"], "synonym": ["Trans-4-hydroxy-l-proline"]}
{"category": ["biolink:Drug"], "id": "CHEBI:181016", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20150101", "medic_mention_id": "MEDICNE:c6fe9e0e-a5d0-5ca1-a663-29d5808a8fe0", "medic_reliability": "LOW", "name": "Tiamulin fumarate", "provided_by": ["infores:medic"], "synonym": ["Tiamulin hydrogen fumarate solution for injection 162 mg/ml (additional Dosage form)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18145", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19690618", "medic_mention_id": "MEDICNE:6c68f916-ea10-55d2-bf02-a9b9bf887170", "medic_registration_numbers": ["MOH_RUSSIA:69/446/12"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)Oc1c(C)c(C)c2c(c1C)CC[C@@](C)(CCC[C@H](C)CCC[C@H](C)CCCC(C)C)O2", "name": "(R,R,R)-alpha-tocopherol", "provided_by": ["infores:medic"], "synonym": ["Vitamin E", "Витамин Е"], "xref": ["DrugCentral:3613"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18208", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20040412", "medic_mention_id": "MEDICNE:e70e2b02-db31-56c9-8d2d-d045a5456290", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001523)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)Cc3ccccc3)C(=O)N2[C@H]1C(=O)[O-].[Na+]", "name": "benzylpenicillin", "provided_by": ["infores:medic"], "synonym": ["BENZYLPENICILLIN POTASSIUM", "Benzathine Benzylpenicillin + Benzylpenicillin Sodium + Benzylpenicillin Procaine", "Benzylpenicillin"], "xref": ["DRUGBANK:DB01053", "UNII:Q42T66VG0C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18211", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080617", "medic_mention_id": "MEDICNE:e39e2047-ae81-531e-a74d-7f01e55e2442", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007200)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "citrulline", "provided_by": ["infores:medic"], "synonym": ["Citrulline malate", "Цитруллина малат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18222", "medic_application_numbers": ["017605|018856"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ddaffb41-83df-501d-bc1d-f595a4519085", "medic_reliability": "HIGH", "name": "xylose", "provided_by": ["infores:medic"], "synonym": ["XYLOSE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18237", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:a0d79d55-7ba1-5bc9-a8ce-c06d9166b55f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002250"], "medic_reliability": "MEDIUM", "name": "glutamic acid", "provided_by": ["infores:medic"], "synonym": ["Glutamic acid", "Глутаминовая кислота"], "xref": ["CHEMBL.COMPOUND:CHEMBL575060", "DrugCentral:1310", "GTOPDB:1369", "PHAROS:QNFUHWBU6GM8", "PUBCHEM.COMPOUND:33032", "UNII:3KX376GY7L"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18243", "medic_application_numbers": ["017395|018014|018132|018138|018398|018549|018656|018826|019099|019615|020542|070011|070012|070013|070046|070047|070058|070059|070087|070089|070090|070091|070092|070093|070094|070364|070558|070559|070656|070657|070799|070820|070826|072999|073000|074403|207707"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:abe791b8-7785-5fa6-a9be-e402b05210b7", "medic_registration_numbers": ["MOH_RUSSIA:85/1019/2"], "medic_reliability": "HIGH", "medic_smiles": "Cl.NCCc1ccc(O)c(O)c1", "name": "dopamine", "provided_by": ["infores:medic"], "synonym": ["DOPAMINE HYDROCHLORIDE", "Dopamine", "dopamine hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL59,CHEMBL1557", "DRUGBANK:DB00988", "DrugCentral:947", "GTOPDB:940", "PHAROS:6642Z5HPHSM5", "PUBCHEM.COMPOUND:681,517540", "UNII:VTD58H1Z2X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18246", "medic_application_numbers": ["018757"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19821228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:92035e85-2bf9-5d38-8662-bfdc7af98a5c", "medic_reliability": "HIGH", "name": "(1->4)-beta-D-glucan", "provided_by": ["infores:medic"], "synonym": ["CELLULOSE SODIUM PHOSPHATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:182465", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:6eedbd45-335d-5d48-8953-04e68e4ad60d", "medic_reliability": "MEDIUM", "name": "Lincomycin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Lincomycin Hydrochloride 500mg Capsule", "Lincomycin Hydrochloride Injection", "盐酸林可霉素注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18257", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070322", "medic_mention_id": "MEDICNE:f0aa7225-cfa9-5d29-9e76-5537bda18a7f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002691"], "medic_reliability": "MEDIUM", "name": "ornithine", "provided_by": ["infores:medic"], "synonym": ["Ornithine", "Орнитин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18258", "medic_application_numbers": ["010379|020105|076923|085753|085755|090097|090326|091382|200295|211510|214803|218070"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["H03AA02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3f2cd5af-4e8f-5895-a9c3-617c720e067c", "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C(=O)[O-].[Na+]", "name": "3,3',5-triiodo-L-thyronine", "provided_by": ["infores:medic"], "synonym": ["LIOTHYRONINE SODIUM", "Liothyronine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1544", "DRUGBANK:DB00279", "DrugCentral:1585", "GTOPDB:2634", "PHAROS:3XYSNU34MN46", "PUBCHEM.COMPOUND:5920", "UNII:06LU7C9H1V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:182695", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110928", "medic_mention_id": "MEDICNE:ae68ebd0-77ed-5b0d-acd5-e8861c7d3b4c", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000141"], "medic_reliability": "MEDIUM", "name": "DL-alpha-Tocopherol acetate", "provided_by": ["infores:medic"], "synonym": ["dl-alpha-Tocopherol Acetate (Vitamin E)", "dl-альфа-Токоферола ацетат (витамин Е)"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:18291", "medic_stub": true, "name": "manganese atom", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18295", "medic_application_numbers": ["000734"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["V04CG03"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:16ffe8a6-6a76-5129-be11-fff1ddb18861", "medic_reliability": "HIGH", "medic_smiles": "NCCc1c[nH]cn1.O=P(O)(O)O.O=P(O)(O)O", "name": "histamine", "provided_by": ["infores:medic"], "synonym": ["HISTAMINE DIHYDROCHLORIDE", "HISTAMINE PHOSPHATE", "histamine dihydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL90,CHEMBL1533310", "DrugCentral:1375", "GTOPDB:1204,1247", "PHAROS:HJ34W5VGNR2L", "PUBCHEM.COMPOUND:774,11309913", "UNII:820484N8I3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18303", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:65cf0888-a6c5-50a6-8873-88853fdbf8c2", "medic_reliability": "EXCLUDED", "name": "phosphatidyl-L-serine", "provided_by": ["infores:medic"], "synonym": ["Phosphatidylserine"], "xref": ["UNII:394XK0IH40"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18315", "medic_mention_id": "MEDICNE:6a2b6e1c-0df1-5ff7-a257-48fa5b752822", "medic_reliability": "EXCLUDED", "name": "pyrroloquinoline quinone", "provided_by": ["infores:medic"], "synonym": ["Pyrroloquinoline quinone"], "xref": ["DRUGBANK:DB03205"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18323", "medic_mention_id": "MEDICNE:04cb3cc6-4037-5624-8cf5-fc70bc47040b", "medic_reliability": "EXCLUDED", "name": "anserine", "provided_by": ["infores:medic"], "synonym": ["Anserine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18332", "medic_application_numbers": ["021116|021137|021210|021292|021301|021342|021402|021924|076187|076752|202231|205366|206163|206977|207588|208749|208837|209713|210632|210831|211369|211417|212399|213256|214047|214253|215259|215809|216414|216729|217066|217495"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "20000821", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:60ca8e86-fdf4-52e9-84ad-a953d4d6806a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000910"], "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](Cc1cc(I)c(Oc2cc(I)c(O)c(I)c2)c(I)c1)C(=O)O", "name": "L-thyroxine", "provided_by": ["infores:medic"], "synonym": ["LEVOTHYROXINE SODIUM", "LEVOTHYROXINE SODIUM HYDRATE", "Levothyroxine", "Levothyroxine sodium"], "xref": ["CHEMBL.COMPOUND:CHEMBL1624", "DRUGBANK:DB00451", "DrugCentral:2646", "GTOPDB:2635", "PHAROS:YGYNAQAA9L6S", "PUBCHEM.COMPOUND:5819", "UNII:Q51BO43MG4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18357", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C01CA03"], "medic_earliest_approval_date": "20080328", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:5f465099-cb18-58d3-b00d-6913e4bcc63d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002774"], "medic_reliability": "HIGH", "medic_smiles": "NC[C@H](O)c1ccc(O)c(O)c1", "name": "(R)-noradrenaline", "provided_by": ["infores:medic"], "synonym": ["Norepinephrine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1434513,CHEMBL1437", "DRUGBANK:DB00368", "DrugCentral:1960", "GTOPDB:505", "PHAROS:NMF7HVW8US3U", "PUBCHEM.COMPOUND:24847757,439260", "UNII:X4W3ENH1CV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:18358", "medic_application_numbers": ["009048|019600|020969|087781|202603|202687"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["D05AD02", "D05BA02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0bad9658-25f1-5c83-a262-49663030eb6e", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001142"], "medic_reliability": "HIGH", "medic_smiles": "COc1c2occc2cc2ccc(=O)oc12", "name": "methoxsalen", "provided_by": ["infores:medic"], "synonym": ["METHOXSALEN", "Methoxalen", "Methoxsalen", "Methoxsalen USP-20mg Tablet"], "xref": ["DRUGBANK:DB00553", "UNII:U4VJ29L7BQ"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:18367", "medic_stub": true, "name": "phosphate(3-)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:183808", "medic_mention_id": "MEDICNE:2ef232cd-927c-5597-905a-dda3d86f4960", "medic_reliability": "EXCLUDED", "name": "7-ketodehydroepiandrosterone", "provided_by": ["infores:medic"], "synonym": ["7-keto-dhea"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:183811", "medic_application_numbers": ["210867"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["P02CX03"], "medic_earliest_approval_date": "19970116", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3c919a0b-41cc-5fce-bded-a755448f7ee2", "medic_reliability": "HIGH", "name": "Moxidectin", "provided_by": ["infores:medic"], "synonym": ["MOXIDECTIN", "Moxidectin", "Moxidectin 1% w/v Injection (For Veterinary)"], "xref": ["DRUGBANK:DB11431", "UNII:NGU5H31YO9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18385", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A11DA01"], "medic_earliest_approval_date": "20050610", "medic_mention_id": "MEDICNE:860daf97-d7be-58c5-bb5d-995c160148f6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002380"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ncc(C[n+]2csc(CCO)c2C)c(N)n1.Cl.[Cl-]", "name": "thiamine(1+)", "provided_by": ["infores:medic"], "synonym": ["Thiamine"], "xref": ["DRUGBANK:DB00152", "UNII:4ABT0J945J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:183853", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:64f20123-b2d6-59c8-9a8c-75ebb5c0d57b", "medic_reliability": "MEDIUM", "medic_smiles": "Cc1nc(C)c(Cl)c(O)c1Cl", "name": "Clopidol", "provided_by": ["infores:medic"], "synonym": ["Clopidol (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:18408", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20211130", "medic_mention_id": "MEDICNE:88f16b5a-83d8-57d1-ac3a-6cb48e5233d8", "medic_reliability": "MEDIUM", "name": "cobamamide", "provided_by": ["infores:medic"], "synonym": ["Cobamamide Capsules", "腺苷钴胺胶囊"], "xref": ["UNII:F0R1QK73KB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:184644", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240529", "medic_mention_id": "MEDICNE:c83cb06b-7256-5b54-a96b-2e7778c63c59", "medic_reliability": "MEDIUM", "name": "dantrolene sodium hemiheptahydrate", "provided_by": ["infores:medic"], "synonym": ["dantrolene sodium, hemiheptahydrate"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:1864", "medic_stub": true, "name": "4-hydroxycyclophosphamide", "provided_by": ["infores:medic"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:18723", "medic_application_numbers": ["019983|020076|020165|020385|020536|020714|074612"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960322", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:b111a773-1382-5549-b05f-770715facdcf", "medic_reliability": "HIGH", "name": "nicotine", "provided_by": ["infores:medic"], "synonym": ["NICOTINE"], "xref": ["CHEMBL.COMPOUND:CHEMBL3", "DrugCentral:1920", "GTOPDB:2585", "PHAROS:U94LJPXF37BF", "PUBCHEM.COMPOUND:89594", "UNII:6M3C89ZY6R"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:188153", "medic_application_numbers": ["215888"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J02AC06"], "medic_earliest_approval_date": "20220426", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8f72876e-4dfa-5ab4-a6cd-52cb38a5e5b2", "medic_reliability": "HIGH", "medic_smiles": "O[C@@](Cn1cnnn1)(c1ccc(F)cc1F)C(F)(F)c1ccc(-c2ccc(OCC(F)(F)F)cc2)cn1", "name": "oteseconazole", "provided_by": ["infores:medic"], "synonym": ["OTESECONAZOLE", "Oteseconazole"], "xref": ["DRUGBANK:DB13055", "UNII:VHH774W97N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:188352", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220825", "medic_features": ["NO_THERAPEUTIC_VALUE", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:18a73f0f-56a5-513e-9057-a667b9cec1de", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008497"], "medic_reliability": "MEDIUM", "name": "phenol formaldehyde resin", "provided_by": ["infores:medic"], "synonym": ["phenol-formaldehyde resin", "фенолформальдегидная смола"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:188559", "medic_application_numbers": ["215559"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["M09AX11"], "medic_earliest_approval_date": "20230816", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ba0bfced-cc18-599d-825a-0c22b522da8d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006935)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)CCC(C)(C)c2cc(Cn3cccn3)c(/C=C/c3ccc(C(=O)O)cc3)cc21", "name": "palovarotene", "provided_by": ["infores:medic"], "synonym": ["PALOVAROTENE", "Palovaroten", "Palovarotene"], "xref": ["DRUGBANK:DB05467", "UNII:28K6I5M16G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:188719", "medic_application_numbers": ["209803|216842|216947|217071"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A10BK04"], "medic_earliest_approval_date": "20171219", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:19b3453d-5d57-5a75-9fc3-8bde4bd5f9b0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005959"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc(Cc2cc([C@]34OC[C@](CO)(O3)[C@@H](O)[C@H](O)[C@H]4O)ccc2Cl)cc1", "name": "Ertugliflozin", "provided_by": ["infores:medic"], "synonym": ["ERTUGLIFLOZIN", "ERTUGLIFLOZIN; METFORMIN HYDROCHLORIDE", "ERTUGLIFLOZIN; SITAGLIPTIN PHOSPHATE", "Ertugliflozin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1770248", "DRUGBANK:DB11827", "DrugCentral:5270", "GTOPDB:8376", "PHAROS:NHG4URM73JQB", "PUBCHEM.COMPOUND:44814423", "UNII:6C282481IP"]}
{"category": ["biolink:Drug"], "id": "CHEBI:188978", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19990611", "medic_mention_id": "MEDICNE:dd03ba2d-b27e-5607-8818-611aa68410e1", "medic_registration_numbers": ["MOH_RUSSIA:99/233/5"], "medic_reliability": "MEDIUM", "name": "BENZALKONIUM", "provided_by": ["infores:medic"], "synonym": ["Benzalkonium chloride", "Benzalkonium chloride + Hypromellose", "Бензалкония хлорид"], "xref": ["UNII:7N6JUD5X6Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:189104", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080814", "medic_mention_id": "MEDICNE:5a91e17f-a27c-54a1-8232-19b67d51ff0e", "medic_registration_numbers": ["MOH_RUSSIA:П N015014/01"], "medic_reliability": "LOW", "name": "Febantel", "provided_by": ["infores:medic"], "synonym": ["Rinital", "Ринитал"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:189226", "medic_stub": true, "name": "3-O-Ethylascorbic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:192509", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20221223", "medic_mention_id": "MEDICNE:2857f555-7dc0-53fc-b1f6-fdb1daa87c82", "medic_reliability": "HIGH", "name": "foslevodopa", "provided_by": ["infores:medic"], "synonym": ["FOSLEVODOPA"], "xref": ["UNII:37NQZ0J76I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:192511", "medic_application_numbers": ["216962"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20221223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8a0acf29-d002-579f-9f69-92e4311742f8", "medic_reliability": "HIGH", "name": "foscarbidopa", "provided_by": ["infores:medic"], "synonym": ["FOSCARBIDOPA HYDRATE", "FOSCARBIDOPA; FOSLEVODOPA"], "xref": ["UNII:5NT8HCA4OO"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:192581", "medic_application_numbers": ["022059|203007|217968"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20070313", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:606b95a8-bc56-5d8b-8d75-1c5e6fa73ad5", "medic_reliability": "HIGH", "name": "Lapatinib ditosylate monohydrate", "provided_by": ["infores:medic"], "synonym": ["LAPATINIB DITOSYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:192617", "medic_application_numbers": ["206966"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["P03AX07"], "medic_earliest_approval_date": "20200724", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:af623f1d-3e6f-5bf0-9385-c7bf7a1324cd", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(-c2ccc(C)cn2)nc1", "name": "Abametapir", "provided_by": ["infores:medic"], "synonym": ["ABAMETAPIR"], "xref": ["UNII:6UO390AMFB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:192712", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220420", "medic_mention_id": "MEDICNE:e8afa12a-ace1-5a3b-9ee8-64dae2fa61e9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008056"], "medic_reliability": "MEDIUM", "name": "Paxlovid", "provided_by": ["infores:medic"], "synonym": ["Nirmatrelvir + Ritonavir", "Nirmatrelvir + Ritonavir [combination]", "Нирматрелвир+Ритонавир"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:194186", "medic_application_numbers": ["215866|217806"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A10BX16"], "medic_earliest_approval_date": "20220513", "medic_features": ["GLUCOSE_REGULATOR", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:80e49138-05bf-55d0-9a6c-751e174acf7f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008551)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "tirzepatide", "provided_by": ["infores:medic"], "synonym": ["TIRZEPATIDE", "Tirzepatide", "Tirzepatide 2.5mg /0.5ml, 5mg/0.5ml, 7.5mg/0.5 ml,10mg/0.5 ml,12.5mg/0.5 ml,15mg/0.5 ml solution for injection in a prefilled pen", "tirzepatide"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297839", "DRUGBANK:DB15171", "DrugCentral:5516", "PHAROS:3XWLM6SQA25W", "UNII:OYN3CCI6QE"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:195250", "medic_stub": true, "name": "corn oil", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:195280", "medic_application_numbers": ["022268"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_atc_codes": ["P01BE02"], "medic_earliest_approval_date": "20080101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:598fff06-5ae7-5da8-801b-c136f4126534", "medic_reliability": "HIGH", "medic_smiles": "CO[C@H]1O[C@@H]2O[C@@]3(C)CC[C@H]4[C@H](C)CC[C@@H]([C@H]1C)[C@@]24OO3", "name": "artemether", "provided_by": ["infores:medic"], "synonym": ["ARTEMETHER", "ARTEMETHER; LUMEFANTRINE", "Artemether", "Artemether + Lumefantrine Dispersible tablet (40/80mg + 240/480mg ) (Additional Strength)", "Artemether 40mg/80mg + Lumefantrine 240mg/480mg tablets (additional Strength)"], "xref": ["DRUGBANK:DB06697", "UNII:C7D6T3H22J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:195558", "medic_application_numbers": ["212725|218550"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EX14"], "medic_earliest_approval_date": "20190618", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b42ea9c6-49aa-5e8a-a478-17b6013ee0be", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001399)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN(c2ccc(C(=O)Nc3n[nH]c4ccc(Cc5cc(F)cc(F)c5)cc34)c(NC3CCOCC3)c2)CC1", "name": "entrectinib", "provided_by": ["infores:medic"], "synonym": ["ENTRECTINIB", "Entrectinib", "Entrectinib Capsules 100mg and 200mg", "entrectinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1983268", "DRUGBANK:DB11986", "DrugCentral:5345", "PHAROS:SQPN7K5NY3NW", "PUBCHEM.COMPOUND:25141092", "UNII:L5ORF0AN1I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:196955", "medic_application_numbers": ["215206"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["N02CD07"], "medic_earliest_approval_date": "20210928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4c50b0b5-7228-57e3-8a6b-cf28a356da14", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006822)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1[C@H](c2c(F)ccc(F)c2F)C[C@H](NC(=O)c2cnc3c(c2)C[C@@]2(C3)C(=O)Nc3ncccc32)C(=O)N1CC(F)(F)F", "name": "atogepant", "provided_by": ["infores:medic"], "synonym": ["ATOGEPANT", "Atogepant", "atogepant"], "xref": ["CHEMBL.COMPOUND:CHEMBL3991065", "DRUGBANK:DB16098", "DrugCentral:5472", "PHAROS:J8UKFDK33CQW", "PUBCHEM.COMPOUND:72163100", "UNII:7CRV8RR151"]}
{"category": ["biolink:Drug"], "id": "CHEBI:197151", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:a03d5a99-62c0-5b6b-9816-3098ed6ddb7e", "medic_reliability": "HIGH", "name": "Halobetasol", "provided_by": ["infores:medic"], "synonym": ["Halobetasol", "Halobetasol 0.05% + Clotrimazole 1.0% cream", "Halobetasol 0.05% + Salicylic acid 6% Ointment (additional Strength)"], "xref": ["DRUGBANK:DB00596", "UNII:9P6159HM7T"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:197511", "medic_application_numbers": ["020941|208754|212385|214454|214613|215505|215839|217090"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20000725", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:9f330e54-abfb-5616-b046-da7b0e22f26b", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-007705/10"], "medic_reliability": "HIGH", "name": "docosanol", "provided_by": ["infores:medic"], "synonym": ["DOCOSANOL", "Docosanol"], "xref": ["DRUGBANK:DB00632", "UNII:9G1OE216XY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:201377", "medic_application_numbers": ["050182|050609|062563|062586|062604|062638|062993|063253|211086|215290|216761"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b08e724-fd6d-5888-8e2d-9dcca67d7382", "medic_reliability": "HIGH", "name": "Erythromycin lactobionate", "provided_by": ["infores:medic"], "synonym": ["ERYTHROMYCIN LACTOBIONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:201397", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100518", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:e56def4e-6605-5fe0-8dba-5cae555f6aae", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007246"], "medic_reliability": "MEDIUM", "name": "Tyrothricin", "provided_by": ["infores:medic"], "synonym": ["Benzalkonium Chloride + Benzocaine + Tyrothricin", "Benzocaine + Benzalkonium Chloride + Tyrothricin", "Бензалкония хлорид+Бензокаин+Тиротрицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:201404", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20241220", "medic_mention_id": "MEDICNE:ff6589ca-a0dc-524b-8722-92b054b8c873", "medic_reliability": "MEDIUM", "name": "Fosfomycin sodium", "provided_by": ["infores:medic"], "synonym": ["Fosfomycin Sodium for Injection", "注射用磷霉素钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:201423", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:32e6822e-505a-59df-96bf-f0ebcc9d03d3", "medic_reliability": "MEDIUM", "name": "Tylosin tartrate", "provided_by": ["infores:medic"], "synonym": ["Tylosin Tartrate (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:201487", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19931112", "medic_mention_id": "MEDICNE:ad64fff3-e509-504b-a2e3-cadbb8b45c13", "medic_reliability": "MEDIUM", "name": "Pefloxacin mesylate dihydrate", "provided_by": ["infores:medic"], "synonym": ["Pefloxacin Mesylate Dihydrate 0.3% w/v Eye Drops"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:201491", "medic_application_numbers": ["050564|050575|050597|050720|050725|050726|050755|050785|065063|065064|065065|065066|065089|065093|065096|065098|065101|065102|065109|065117|065132|065161|065162|065189|065191|065205|065207|065317|065333|065358|065373|065420|065431|090227|091568|091569|201090|201091|203824|204755|205187|205707|209351|209371|209991|209992|210374|210416|217805"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19840806", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:21967bf2-c466-52d3-8345-6c88eacc47f7", "medic_reliability": "MEDIUM", "name": "Amoxicillin Clavulanate", "provided_by": ["infores:medic"], "synonym": ["AMOXICILLIN; CLAVULANATE POTASSIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2038", "medic_application_numbers": ["050794|201537|204949|207234|207475|207518|208216|209337|209540|210748|211549|212128|212580|214120|215066|215765|215905|217453"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["L01BC07"], "medic_earliest_approval_date": "20040519", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:721fc1ff-69be-5191-9a2b-44c7b5e985e0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002384)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ncn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)n1", "name": "5-azacytidine", "provided_by": ["infores:medic"], "synonym": ["AZACITIDINE", "Azacitidine", "Azacitidine for Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL1489", "DRUGBANK:DB00928", "DrugCentral:25", "PHAROS:APQ4TYS6L28M", "PUBCHEM.COMPOUND:9444", "UNII:M801H13NRU"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:204734", "medic_application_numbers": ["017010|017426|019048|021844|021978|071425|072354|073548|074027|074254|075751|075860|202161|202470|207855|208836|209494|209729|209996|210198|210998|212002|212473|213632|214396"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["D07AB08", "S01BA11"], "medic_earliest_approval_date": "19820101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e095ff00-d7a6-5d13-8cbb-4df076c08eb4", "medic_registration_numbers": ["MOH_RUSSIA:П N015185/02"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)O[C@@H]2C[C@H]3[C@@H]4CCC5=CC(=O)C=C[C@]5(C)[C@H]4[C@@H](O)C[C@]3(C)[C@]2(C(=O)CO)O1", "name": "desonide", "provided_by": ["infores:medic"], "synonym": ["DESONIDE", "Desonide", "Desonide 0.05% Cream"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201109", "DRUGBANK:DB01260", "DrugCentral:3135", "PHAROS:533YDP4RC7AW", "PUBCHEM.COMPOUND:5311066", "UNII:J280872D1O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:204928", "medic_application_numbers": ["050547|050596|050792|062659|064200|064201|065071|065072|065124|065197|065290|065292|065293|065348|065516|065517|203132"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "usa"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7d5e2747-756d-5fe9-a6aa-561c1d48eeae", "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(COC(C)=O)CS[C@H]12)c1csc(N)n1.[Na+]", "name": "cefotaxime", "provided_by": ["infores:medic"], "synonym": ["CEFOTAXIME SODIUM", "Cefotaxime Sodium", "Cefotaxime for Injection", "Cefotaxime for Injection/5% Glucose Injection", "Cefotaxime sodium + Sulbactam sodium for injection (Additional Indication)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1730", "PHAROS:89YPVT25MJFZ", "PUBCHEM.COMPOUND:5742673", "UNII:N2GI8B1GK7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:205919", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D07AD01"], "medic_earliest_approval_date": "20080904", "medic_features": ["STEROID"], "medic_mention_id": "MEDICNE:75fa0ad3-156e-5e0d-94af-d01be71b0358", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001131"], "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)O[C@]1(C(=O)CCl)[C@@H](C)C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]21C", "name": "clobetasol", "provided_by": ["infores:medic"], "synonym": ["Clobetasol"], "xref": ["DRUGBANK:DB11750", "UNII:ADN79D536H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:209807", "medic_application_numbers": ["050517|050581|062757|063182|065011|065012|065050|065051|065214|065238|065239|065312|065313|065414|065415|065464|065467|200938"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c89541cf-0e77-536a-bd87-372d375ceba3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000907"], "medic_reliability": "HIGH", "name": "cefoxitin", "provided_by": ["infores:medic"], "synonym": ["CEFOXITIN SODIUM", "Cefoxitin"], "xref": ["DRUGBANK:DB01331", "UNII:6OEV9DX57Y"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:215747", "medic_application_numbers": ["215272"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["D05AX07"], "medic_earliest_approval_date": "20220523", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d8014a94-a070-55c8-b622-68124926a80c", "medic_reliability": "HIGH", "medic_smiles": "CC(C)c1c(O)cc(/C=C/c2ccccc2)cc1O", "name": "Benvitimod", "provided_by": ["infores:medic"], "synonym": ["TAPINAROF", "Tapinarof"], "xref": ["CHEMBL.COMPOUND:CHEMBL259571", "DRUGBANK:DB06083", "DrugCentral:5521", "PHAROS:CWFD8WKL4TMF", "PUBCHEM.COMPOUND:6439522", "UNII:84HW7D0V04"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22063", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:f2a0cfa4-0263-5651-b41f-cb06c928d01d", "medic_reliability": "LOW", "name": "sulfoxide", "provided_by": ["infores:medic"], "synonym": ["Sulfoxide)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:22198", "medic_application_numbers": ["013601|021539|070575|070576|071364|071365|072323|072324|072489|072547|072621|072622|073664|074037|091684|200644|203173|203853|204674|204797|205643|207358|207916|208166|213693|214177|215620|217182|218397|219194"], "medic_approved_authorities": ["FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:de9005f7-e872-5771-9834-62978d9320d4", "medic_reliability": "HIGH", "name": "acetylcysteine", "provided_by": ["infores:medic"], "synonym": ["ACETYLCYSTEINE", "ACETYLCYSTEINE; ISOPROTERENOL HYDROCHLORIDE", "Acetylcysteine Granules"], "xref": ["UNII:WYQ7N0BPYC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:22470", "medic_application_numbers": ["021163"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20000518", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d4afa06c-cc67-5570-b47d-445f3345ac43", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002149"], "medic_reliability": "HIGH", "name": "alpha-tocopherol", "provided_by": ["infores:medic"], "synonym": ["ALPHA-TOCOPHEROL ACETATE; ASCORBIC ACID; BIOTIN; CHOLECALCIFEROL; CYANOCOBALAMIN; DEXPANTHENOL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE HYDROCHLORIDE; VITAMIN A PALMITATE; VITAMIN K", "alpha-tocopherol acetate"], "xref": ["UNII:H4N855PNZ1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22494", "medic_mention_id": "MEDICNE:8cf8b374-321f-5600-8d09-3912aed5c1aa", "medic_reliability": "EXCLUDED", "name": "aminobenzoate", "provided_by": ["infores:medic"], "synonym": ["Aminobenzoate potassium"], "xref": ["DRUGBANK:DBSALT002730"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22495", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060505", "medic_mention_id": "MEDICNE:47bceeda-9dea-5bc4-af6b-fa5375829844", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006052"], "medic_reliability": "MEDIUM", "name": "aminobenzoic acid", "provided_by": ["infores:medic"], "synonym": ["Aminobenzoic acid", "Аминобензойная кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22652", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A11GA01", "G01AD03", "S01XA15"], "medic_earliest_approval_date": "20051021", "medic_mention_id": "MEDICNE:9f6bb112-43c2-5b0d-a815-bd318485d61e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004498"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C1O[C@H]([C@@H](O)CO)C(O)=C1O", "name": "ascorbic acid", "provided_by": ["infores:medic"], "synonym": ["Alpha-Glutamyl-Tryptophan + Ascorbic Acid + Bendazole", "Ascorbic Acid + Bromhexine Hydrochloride + Calcium Gluconate + Paracetamol + Rutoside", "Ascorbic Acid + Calcium Carbonate", "Ascorbic Acid + Calcium Gluconate + Caffeine + Paracetamol + Rutoside", "Ascorbic Acid + Calcium Gluconate + Loratadine + Paracetamol + Rimantadine + Rutoside", "Ascorbic Acid + Dextromethorphan + Caffeine + Paracetamol + Chlorphenamine", "Ascorbic Acid + Dextromethorphan + Paracetamol + Pseudoephedrine", "Ascorbic Acid + Folic Acid", "Ascorbic Acid + Paracetamol + Pheniramine", "Ascorbic Acid + Paracetamol + Rutoside + Phenylephrine + Succinic Acid", "Ascorbic Acid + Rutoside", "Ascorbic Acid + [Dextrose]", "Chlorhexidine + Ascorbic Acid", "Paracetamol + Ascorbic Acid", "Paracetamol + Ascorbic Acid + Succinic Acid + Rutoside + Phenylephrine", "Paracetamol + Pheniramine + Ascorbic Acid", "Paracetamol + Phenylephrine + Ascorbic Acid", "Paracetamol + Phenylephrine + Pheniramine + Ascorbic Acid", "Paracetamol; Ascorbic Acid + Calcium Gluconate + Loratadine + Rimantadine + Rutoside", "Аскорбиновая кислота+Рутозид"], "xref": ["CHEMBL.COMPOUND:CHEMBL196", "PHAROS:ZRMQKAYFG21N", "PUBCHEM.COMPOUND:54670067"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22660", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060303", "medic_mention_id": "MEDICNE:bb0f2f50-c108-5c0d-9f08-475bd7114d8c", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001371"], "medic_reliability": "MEDIUM", "name": "aspartic acid", "provided_by": ["infores:medic"], "synonym": ["Aspartic acid", "Аспарагиновая кислота"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:228302", "medic_application_numbers": ["217369"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["N06AX31"], "medic_earliest_approval_date": "20231031", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a6305b5a-6afe-5a91-ac2d-1c3e0677a615", "medic_reliability": "HIGH", "medic_smiles": "C[C@@]1(O)CC[C@H]2[C@H](CC[C@@H]3[C@@H]2CC[C@]2(C)[C@@H](C(=O)Cn4cc(C#N)cn4)CC[C@@H]32)C1", "name": "zuranolone", "provided_by": ["infores:medic"], "synonym": ["ZURANOLONE", "Zuranolone", "zuranolone"], "xref": ["DRUGBANK:DB15490", "UNII:7ZW49N180B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:228304", "medic_application_numbers": ["215239"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["H02AB18"], "medic_earliest_approval_date": "20231026", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f847ccb8-78ae-5815-887e-a4e378c5a06f", "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)C3=CC[C@]2(C)[C@@]1(O)C(=O)CO", "name": "vamorolone", "provided_by": ["infores:medic"], "synonym": ["VAMOROLONE", "Vamorolone", "vamorolone"], "xref": ["DRUGBANK:DB15114", "UNII:8XP29XMB43"]}
{"category": ["biolink:Drug"], "id": "CHEBI:228365", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["C10AB12"], "medic_earliest_approval_date": "20170703", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:4ee0f2ec-c0a9-5d4d-8ad4-1173245c2219", "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H](Oc1cccc(CN(CCCOc2ccc(OC)cc2)c2nc3ccccc3o2)c1)C(=O)O", "name": "pemafibrate", "provided_by": ["infores:medic"], "synonym": ["PEMAFIBRATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL247951", "DrugCentral:5248", "PHAROS:79VN56QZT6TU", "PUBCHEM.COMPOUND:11526038", "UNII:17VGG92R23"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:228488", "medic_application_numbers": ["206709|207223"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["N03AX17"], "medic_earliest_approval_date": "20120928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dc860cff-71cd-5a17-981c-3cb94384a728", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)C(O)/C=C/c1ccc2c(c1)OCO2", "name": "Stiripentol", "provided_by": ["infores:medic"], "synonym": ["STIRIPENTOL", "Stiripentol"], "xref": ["DRUGBANK:DB09118", "UNII:R02XOT8V8I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:22907", "medic_application_numbers": ["050443|064084|065031|065033|065042|065185|065201|205030|209439"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:db751a81-9e73-5710-bd22-6223b4b6f435", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001161"], "medic_reliability": "HIGH", "medic_smiles": "Cc1c(N)nc([C@H](CC(N)=O)NC[C@H](N)C(N)=O)nc1C(=O)N[C@H](C(=O)N[C@H](C)[C@@H](O)[C@H](C)C(=O)N[C@H](C(=O)NCCc1nc(-c2nc(C(=O)NCCC[S+](C)C)cs2)cs1)[C@@H](C)O)C(OC1OC(CO)C(O)C(O)C1OC1OC(CO)C(O)C(OC(N)=O)C1O)c1c[nH]cn1.O=S(=O)([O-])O", "name": "bleomycin", "provided_by": ["infores:medic"], "synonym": ["BLEOMYCIN SULFATE", "Bleomycin 5mg Injection", "bleomycin sulfate"], "xref": ["UNII:40S1VHN69B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229212", "medic_application_numbers": ["216059"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["L01EL05"], "medic_earliest_approval_date": "20230127", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:51022653-4a66-5e43-8264-e828fdcf2b39", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(F)cc1C(=O)NCc1ccc(-c2nn([C@@H](C)C(F)(F)F)c(N)c2C(N)=O)cc1", "name": "pirtobrutinib", "provided_by": ["infores:medic"], "synonym": ["PIRTOBRUTINIB", "Pirtobrutinib", "pirtobrutinib"], "xref": ["DRUGBANK:DB17472", "UNII:JNA39I7ZVB"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229213", "medic_application_numbers": ["217639"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["L02BA04"], "medic_earliest_approval_date": "20230127", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6656d3f3-6874-5df4-8dfa-45e18270d3fe", "medic_reliability": "HIGH", "medic_smiles": "CCNCCc1ccc(CN(CC)c2cc(OC)ccc2[C@@H]2CCc3cc(O)ccc3C2)cc1", "name": "elacestrant", "provided_by": ["infores:medic"], "synonym": ["ELACESTRANT HYDROCHLORIDE", "Elacestrant", "elacestrant"], "xref": ["DRUGBANK:DB06374", "UNII:FM6A2627A8"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229217", "medic_application_numbers": ["217677"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["L01XX81"], "medic_earliest_approval_date": "20231127", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ade0c958-c6ae-52c8-abcb-5ef40f36144d", "medic_reliability": "HIGH", "medic_smiles": "CCC[C@H](N[C@H]1CCc2cc(F)cc(F)c2C1)C(=O)Nc1cn(C(C)(C)CNCC(C)(C)C)cn1", "name": "nirogacestat", "provided_by": ["infores:medic"], "synonym": ["NIROGACESTAT HYDROBROMIDE", "Nirogacestat", "nirogacestat"], "xref": ["DRUGBANK:DB12005", "UNII:QZ62892OFJ"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229220", "medic_application_numbers": ["218213"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["L01EX28"], "medic_earliest_approval_date": "20231115", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bb21befc-3ab1-58b1-b9f7-09960c3be070", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1CNC(=O)c2cnn3ccc(nc23)N[C@H](C)c2cc(F)ccc2O1", "name": "repotrectinib", "provided_by": ["infores:medic"], "synonym": ["REPOTRECTINIB", "Repotrectinib", "repotrectinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4298138", "DRUGBANK:DB16826", "GTOPDB:10316", "PHAROS:CTQF1SGHPVJ9", "PUBCHEM.COMPOUND:135565923"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229221", "medic_application_numbers": ["217564"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["L01EK04"], "medic_earliest_approval_date": "20231108", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5169849b-564a-5241-85b8-10225e08bc4d", "medic_reliability": "HIGH", "medic_smiles": "CNC(=O)c1c(C)oc2cc(Oc3ncnc4cc(OC)c(OC)cc34)ccc12", "name": "fruquintinib", "provided_by": ["infores:medic"], "synonym": ["FRUQUINTINIB", "Fruquintinib", "fruquintinib"], "xref": ["DRUGBANK:DB11679", "GTOPDB:9428", "PHAROS:BTPVQAW3ZQXP", "PUBCHEM.COMPOUND:44480399", "UNII:49DXG3M5ZW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229222", "medic_application_numbers": ["218197"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01EX27"], "medic_earliest_approval_date": "20231116", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cb6a30e1-4fb6-558a-9cf1-a1da2ec6043c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006295)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "NC1(C(=O)N[C@@H](CCO)c2ccc(Cl)cc2)CCN(c2nc[nH]c3nccc2-3)CC1", "name": "capivasertib", "provided_by": ["infores:medic"], "synonym": ["CAPIVASERTIB", "Capivasertib", "Kapivasertib", "capivasertib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2325741", "DRUGBANK:DB12218", "GTOPDB:7709", "PHAROS:CDVTJAD54F25", "PUBCHEM.COMPOUND:25227436"]}
{"category": ["biolink:Drug"], "id": "CHEBI:229223", "medic_application_numbers": ["216951"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["B03XA07"], "medic_earliest_approval_date": "20200629", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7bd063fe-bf63-5eef-8dc0-e67fe039f9b3", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CNC(=O)C1C(=O)N(C2CCCCC2)C(=O)N(C2CCCCC2)C1=O", "name": "daprodustat", "provided_by": ["infores:medic"], "synonym": ["DAPRODUSTAT", "Daprodustat"], "xref": ["CHEMBL.COMPOUND:CHEMBL3544988", "DRUGBANK:DB11682", "DrugCentral:5421", "PHAROS:CZATVQLWJ8Y1", "PUBCHEM.COMPOUND:91617630", "UNII:JVR38ZM64B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229225", "medic_application_numbers": ["214373"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A10BK08"], "medic_earliest_approval_date": "20230120", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:17c52f4b-3114-57b3-8950-02346ad7debf", "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1O[C@@H](c2ccc(Cl)c(Cc3ccc(OCCOC4CC4)cc3)c2)[C@H](O)[C@@H](O)[C@@H]1O", "name": "bexagliflozin", "provided_by": ["infores:medic"], "synonym": ["BEXAGLIFLOZIN", "Bexagliflozin"], "xref": ["DRUGBANK:DB12236", "UNII:EY00JF42FV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229226", "medic_application_numbers": ["216203"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A10BK06"], "medic_earliest_approval_date": "20230526", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1640f29f-c4f2-58a6-884b-8e52efa5c0ed", "medic_reliability": "HIGH", "medic_smiles": "CCOc1ccc(Cc2cc([C@@H]3O[C@H](SC)[C@@H](O)[C@H](O)[C@H]3O)ccc2Cl)cc1", "name": "sotagliflozin", "provided_by": ["infores:medic"], "synonym": ["SOTAGLIFLOZIN", "Sotagliflozin"], "xref": ["CHEMBL.COMPOUND:CHEMBL3039507", "DRUGBANK:DB12713", "DrugCentral:5339", "GTOPDB:8312", "PHAROS:2D3WNDRLVSWV", "PUBCHEM.COMPOUND:24831714"]}
{"category": ["biolink:Drug"], "id": "CHEBI:229230", "medic_approved_authorities": ["CDSCO", "EMA"], "medic_approved_jurisdictions": ["europe", "india"], "medic_atc_codes": ["L04AE05"], "medic_earliest_approval_date": "20240216", "medic_mention_id": "MEDICNE:6f05f4e4-614e-5b95-881b-febb1c1bfcca", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)C[C@H]1CCc2c1[nH]c1ccc(OCc3ccc(C4CCCC4)c(C(F)(F)F)c3)cc21", "name": "etrasimod", "provided_by": ["infores:medic"], "synonym": ["Etrasimod", "Etrasimod Tablets 2mg", "etrasimod"], "xref": ["CHEMBL.COMPOUND:CHEMBL3358920", "DRUGBANK:DB14766", "GTOPDB:9331", "PHAROS:DP96BG962CSV", "PUBCHEM.COMPOUND:44623998"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229231", "medic_application_numbers": ["216956"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20231012", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:134bc5a4-d4d8-5883-b4d7-b0449316b2dd", "medic_reliability": "HIGH", "name": "etrasimod arginine", "provided_by": ["infores:medic"], "synonym": ["ETRASIMOD ARGININE", "ETRASIMOD L-ARGININE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229233", "medic_application_numbers": ["215830"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["L04AF08"], "medic_earliest_approval_date": "20230623", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5418f572-a229-5fa1-bb17-0bafab073319", "medic_reliability": "HIGH", "medic_smiles": "C=CC(=O)N1C[C@H](Nc2ncnc3[nH]ccc23)CC[C@@H]1C", "name": "ritlecitinib", "provided_by": ["infores:medic"], "synonym": ["RITLECITINIB TOSYLATE", "Ritlecitinib", "ritlecitinib"], "xref": ["DRUGBANK:DB14924", "UNII:2OYE00PC25"]}
{"category": ["biolink:Drug"], "id": "CHEBI:229234", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20230626", "medic_mention_id": "MEDICNE:2499968d-0d25-5e6e-be43-7031dd028b97", "medic_reliability": "HIGH", "name": "ritlecitinib tosylate", "provided_by": ["infores:medic"], "synonym": ["RITLECITINIB TOSILATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229236", "medic_application_numbers": ["216578"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["G02CX06"], "medic_earliest_approval_date": "20230512", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:71481bd4-7738-556d-a375-d874927091b4", "medic_reliability": "HIGH", "medic_smiles": "Cc1nsc(-c2nnc3n2CCN(C(=O)c2ccc(F)cc2)[C@@H]3C)n1", "name": "fezolinetant", "provided_by": ["infores:medic"], "synonym": ["FEZOLINETANT", "Fezolinetant", "fezolinetant"], "xref": ["DRUGBANK:DB15669", "UNII:83VNE45KXX"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229526", "medic_application_numbers": ["216403"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["C09XX01"], "medic_earliest_approval_date": "20230217", "medic_features": ["CARDIOVASCULAR", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:550cd916-242e-5997-9e84-8c571210ca4c", "medic_reliability": "HIGH", "medic_smiles": "CCCCC1=NC2(CCCC2)C(=O)N1Cc1ccc(-c2ccccc2S(=O)(=O)Nc2noc(C)c2C)c(COCC)c1", "name": "sparsentan", "provided_by": ["infores:medic"], "synonym": ["SPARSENTAN", "Sparsentan", "sparsentan"], "xref": ["CHEMBL.COMPOUND:CHEMBL539423", "DRUGBANK:DB12548", "GTOPDB:8448", "PHAROS:XJT4977Q6T7L", "PUBCHEM.COMPOUND:10257882", "UNII:9242RO5URM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229539", "medic_application_numbers": ["216974"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230523", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f207600e-263b-569d-a12d-3d9d91f096e7", "medic_reliability": "HIGH", "name": "durlobactam", "provided_by": ["infores:medic"], "synonym": ["DURLOBACTAM SODIUM; DURLOBACTAM SODIUM; SULBACTAM SODIUM", "Durlobactam"], "xref": ["DRUGBANK:DB16704", "UNII:PSA33KO9WA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229599", "medic_application_numbers": ["217026|219884"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N07XX24"], "medic_earliest_approval_date": "20230310", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:58de9032-fd59-5153-ac4a-d744134b6fae", "medic_reliability": "HIGH", "medic_smiles": "C[C@@]1(C(=O)N[C@@H](CCC(=O)O)C(=O)O)CCCN1C(=O)CN", "name": "trofinetide", "provided_by": ["infores:medic"], "synonym": ["TROFINETIDE", "Trofinetide"], "xref": ["DRUGBANK:DB06045", "UNII:Z2ME8F52QL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229643", "medic_application_numbers": ["216386"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N02CD08"], "medic_earliest_approval_date": "20230309", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:afd4d0c9-8cb4-5cbd-8709-8cfa8c979eb4", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc(C[C@@H](NC(=O)N2CCC(c3cc4ccccc4[nH]c3=O)CC2)C(=O)N2CCN(C3CCN(C)CC3)CC2)cc2cn[nH]c12", "name": "zavegepant", "provided_by": ["infores:medic"], "synonym": ["ZAVEGEPANT HYDROCHLORIDE", "Zavegepant"], "xref": ["DRUGBANK:DB15688", "UNII:ODU3ZAZ94J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229649", "medic_application_numbers": ["217759"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L03AX22"], "medic_earliest_approval_date": "20230324", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b7c305b0-9e8a-5c07-b56f-418b587bf9e7", "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)N1CC[C@H](Nc2ncnc3c2CN(c2cnc(OC)c(C(F)(F)F)c2)CC3)C1", "name": "leniolisib", "provided_by": ["infores:medic"], "synonym": ["LENIOLISIB PHOSPHATE", "Leniolisib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3643413", "DRUGBANK:DB16217", "GTOPDB:9424", "PHAROS:SMYYYLBFCV34", "PUBCHEM.COMPOUND:57495353"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229652", "medic_application_numbers": ["218276"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L04AJ08"], "medic_earliest_approval_date": "20231205", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2af52146-1a10-52ba-bc35-6bb60322dac2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006928)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCO[C@H]1CCN(Cc2c(OC)cc(C)c3[nH]ccc23)[C@H](c2ccc(C(=O)O)cc2)C1", "name": "iptacopan", "provided_by": ["infores:medic"], "synonym": ["IPTACOPAN HYDROCHLORIDE", "IPTACOPAN HYDROCHLORIDE HYDRATE", "Iptacopan", "Iptakopan", "iptacopan"], "xref": ["DRUGBANK:DB16200", "UNII:8E05T07Z6W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229657", "medic_application_numbers": ["217603"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["S01AX25"], "medic_earliest_approval_date": "20230724", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ea2210ad-ddcb-5282-a069-233e826783f8", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc(C2=NO[C@@](c3cc(Cl)c(Cl)c(Cl)c3)(C(F)(F)F)C2)sc1C(=O)NCC(=O)NCC(F)(F)F", "name": "lotilaner", "provided_by": ["infores:medic"], "synonym": ["LOTILANER", "Lotilaner"], "xref": ["DRUGBANK:DB17992"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229658", "medic_application_numbers": ["216675"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230518", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:50be4c95-0d11-5f28-a5a1-af68a744fd22", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCC(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F", "name": "perfluorohexyloctane", "provided_by": ["infores:medic"], "synonym": ["PERFLUOROHEXYLOCTANE"], "xref": ["UNII:7VYX4ELWQM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229659", "medic_application_numbers": ["216834"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20230925", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e8407652-3874-5936-8db3-d12b6c15d609", "medic_reliability": "HIGH", "name": "zilucoplan", "provided_by": ["infores:medic"], "synonym": ["ZILUCOPLAN SODIUM", "Zilucoplan", "zilucoplan"], "xref": ["DRUGBANK:DB15636", "UNII:YG391PK0CC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229661", "medic_application_numbers": ["216718"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["N07XX25"], "medic_earliest_approval_date": "20230228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7ca6e1f6-5ff8-5be1-88b9-8bb4463d05a2", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)CC[C@]2(NC(=O)C(C)(F)F)CC[C@]3(C)[C@H](C(=O)C=C4[C@@]5(C)C=C(C#N)C(=O)C(C)(C)[C@@H]5CC[C@]43C)[C@@H]2C1", "name": "omaveloxolone", "provided_by": ["infores:medic"], "synonym": ["OMAVELOXOLONE", "Omaveloxolone", "omaveloxolone"], "xref": ["DRUGBANK:DB12513", "UNII:G69Z98951Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229675", "medic_application_numbers": ["216023"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230525", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3c38c2f8-b723-5367-a52c-d1b0a1edd96a", "medic_reliability": "HIGH", "name": "flotufolastat F-18 gallium", "provided_by": ["infores:medic"], "synonym": ["FLOTUFOLASTAT F-18 GALLIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229680", "medic_application_numbers": ["217417"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20230322", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:00593a90-a570-5697-8e29-6a8db0637503", "medic_reliability": "HIGH", "medic_smiles": "CCCCCOc1ccc(-c2ccc(-c3ccc(C(=O)N[C@H]4C[C@@H](O)[C@@H](OCC[N+](C)(C)C)NC(=O)[C@@H]5[C@@H](O)[C@@H](C)CN5C(=O)[C@H]([C@@H](C)O)NC(=O)[C@H]([C@H](O)[C@@H](O)c5ccc(O)cc5)NC(=O)[C@@H]5C[C@@H](O)CN5C(=O)[C@H]([C@@H](C)O)NC4=O)cc3)cc2)cc1", "name": "rezafungin", "provided_by": ["infores:medic"], "synonym": ["REZAFUNGIN ACETATE", "Rezafungin", "rezafungin"], "xref": ["DRUGBANK:DB16310", "UNII:G013B5478J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:229764", "medic_application_numbers": ["212306"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["L01XX66"], "medic_earliest_approval_date": "20190703", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6d7810ae-2249-577b-a90c-e23125321a09", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010607)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=C(/C=C\\n1cnc(-c2cc(C(F)(F)F)cc(C(F)(F)F)c2)n1)NNc1cnccn1", "name": "selinexor", "provided_by": ["infores:medic"], "synonym": ["SELINEXOR", "Selinexor", "selinexor"], "xref": ["CHEMBL.COMPOUND:CHEMBL3545185", "DRUGBANK:DB11942", "DrugCentral:5330", "PHAROS:CBCD44261CU5", "PUBCHEM.COMPOUND:71481097", "UNII:31TZ62FO8F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:22984", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:6322933e-94c8-5acc-87a6-03e518f71421", "medic_reliability": "MEDIUM", "name": "calcium atom", "provided_by": ["infores:medic"], "synonym": ["Calcium and Magnesium 24% (Veterinary) injectable solution."]}
{"category": ["biolink:Drug"], "id": "CHEBI:230239", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19930528", "medic_mention_id": "MEDICNE:bbe917cc-0c66-5954-bee9-c6e8534fa12b", "medic_reliability": "LOW", "name": "Mepartricin", "provided_by": ["infores:medic"], "synonym": ["Mepatricin 50000 Units"]}
{"category": ["biolink:Drug"], "id": "CHEBI:230352", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20220303", "medic_mention_id": "MEDICNE:b75d9173-31df-5bb6-89bd-6433d4dc00ef", "medic_reliability": "MEDIUM", "name": "Desidustat", "provided_by": ["infores:medic"], "synonym": ["Desidustat bulk and Desidustat tablets 25mg and 50mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:230430", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20120101", "medic_mention_id": "MEDICNE:92f87e87-4669-57f0-a460-710ad6d62f33", "medic_reliability": "MEDIUM", "name": "Ulinastatin", "provided_by": ["infores:medic"], "synonym": ["Ulinastatin for Injection 50000 IU / 100000 IU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:230519", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19700604", "medic_mention_id": "MEDICNE:057216c0-fafa-5d32-a7b0-ac3f6b31df0b", "medic_registration_numbers": ["MOH_RUSSIA:70/367/18"], "medic_reliability": "MEDIUM", "name": "heparin sodium", "provided_by": ["infores:medic"], "synonym": ["Heparin Sodium Topical Solution 1000 IU/ml (Additional Dosage Form)", "Sodium Heparin + [Allantoin + Dexpanthenol]", "Sodium heparin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:230550", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["A02BA06"], "medic_earliest_approval_date": "20110121", "medic_mention_id": "MEDICNE:c578203a-1aac-57ed-8c16-48414abf13df", "medic_reliability": "HIGH", "medic_smiles": "O=C(CO)NCCCOc1cccc(CN2CCCCC2)c1", "name": "roxatidine", "provided_by": ["infores:medic"], "synonym": ["ROXATIDINE ACETATE HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:230846", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["A16AB19"], "medic_earliest_approval_date": "20230327", "medic_mention_id": "MEDICNE:92e4f2d6-015e-5b5a-8f8c-4331b4f42888", "medic_reliability": "HIGH", "name": "Pegvaliase", "provided_by": ["infores:medic"], "synonym": ["PEGVALIASE", "Pegvaliase"], "xref": ["DRUGBANK:DB12839", "UNII:N6UAH27EUV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:230905", "medic_application_numbers": ["209092"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20170313", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4fd01f2d-cae2-56e7-8204-720ed972f476", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004670"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)C(=O)c1cc2cnc(Nc3ccc(N4CCNCC4)cn3)nc2n1C1CCCC1", "name": "Ribociclib", "provided_by": ["infores:medic"], "synonym": ["RIBOCICLIB SUCCINATE", "Ribociclib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3545110", "DRUGBANK:DB11730", "DrugCentral:5218", "GTOPDB:7383", "PHAROS:93PVAMNLUQ8U", "PUBCHEM.COMPOUND:44631912", "UNII:TK8ERE8P56"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231032", "medic_application_numbers": ["214460|214461"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J05AB17"], "medic_earliest_approval_date": "20210604", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:af2643d0-d3c5-5734-b744-a80aa4fdbb1e", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCCOCCCOP(=O)(O)CO[C@H](CO)Cn1ccc(N)nc1=O", "name": "Brincidofovir", "provided_by": ["infores:medic"], "synonym": ["BRINCIDOFOVIR", "Brincidofovir"], "xref": ["DRUGBANK:DB12151"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231087", "medic_application_numbers": ["214200"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20210212", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d2ecf0de-ae7b-5812-a212-c5df5025f691", "medic_reliability": "HIGH", "name": "Trilaciclib", "provided_by": ["infores:medic"], "synonym": ["TRILACICLIB DIHYDROCHLORIDE", "Trilaciclib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3894860", "DRUGBANK:DB15442", "DrugCentral:5442", "GTOPDB:9626", "PHAROS:XDU2WJ5CMMNN", "PUBCHEM.COMPOUND:68029831", "UNII:U6072DO9XG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231324", "medic_application_numbers": ["212526|215039|218466"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "20190524", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:843d3619-55f8-5f53-ade5-f2845db2e012", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006279"], "medic_reliability": "HIGH", "name": "alpelisib", "provided_by": ["infores:medic"], "synonym": ["ALPELISIB", "Alpelisib", "Alpelisib film coated tablets 50mg, 150mg, 200mg", "alpelisib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2396661", "DRUGBANK:DB12015", "DrugCentral:5328", "GTOPDB:7955", "PHAROS:DPT3VS8J5C2W", "PUBCHEM.COMPOUND:56649450", "UNII:08W5N2C97Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231344", "medic_application_numbers": ["211651|217439"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20181016", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:42017936-a55b-55b6-914e-df9d67fd4c3c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006116"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(S(=O)(=O)O)cc1.Cn1ncnc1[C@H]1c2n[nH]c(=O)c3cc(F)cc(c23)N[C@@H]1c1ccc(F)cc1", "name": "talazoparib", "provided_by": ["infores:medic"], "synonym": ["TALAZOPARIB TOSYLATE", "Talazoparib", "talazoparib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3764816", "DRUGBANK:DB11760", "PHAROS:FRYL773UKB8Z", "PUBCHEM.COMPOUND:135742498", "UNII:9QHX048FRV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231350", "medic_application_numbers": ["208712"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20220228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e27a563b-1088-5462-9182-13ef5f61d46b", "medic_reliability": "HIGH", "name": "pacritinib", "provided_by": ["infores:medic"], "synonym": ["PACRITINIB CITRATE", "Pacritinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2035187", "DRUGBANK:DB11697", "DrugCentral:5507", "GTOPDB:7793", "PHAROS:J4ZSCUZC1GZL", "PUBCHEM.COMPOUND:46216796", "UNII:G22N65IL3O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:231416", "medic_application_numbers": ["218037"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L04AJ09"], "medic_earliest_approval_date": "20240118", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e50a7ffa-7a7d-550c-a653-74dfe0c0fcb1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005663)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)c1nn(CC(=O)N2C[C@H](F)C[C@H]2C(=O)Nc2cccc(Br)n2)c2ccc(-c3cnc(C)nc3)cc12", "name": "danicopan", "provided_by": ["infores:medic"], "synonym": ["DANICOPAN", "Danicopan", "Danikopan", "danicopan"], "xref": ["DRUGBANK:DB15401", "UNII:JM8C1SFX0U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:231501", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D08AX06", "V03AB18"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:461fee0c-25f0-5b5e-b23c-de830143789e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001123"], "medic_reliability": "MEDIUM", "name": "potassium permanganate", "provided_by": ["infores:medic"], "synonym": ["Potassium permanganate", "Калия перманганат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:231505", "medic_application_numbers": ["019961"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19910117", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0f6fc09e-551a-5272-87e2-81d29ec59e3c", "medic_reliability": "HIGH", "name": "gallium nitrate", "provided_by": ["infores:medic"], "synonym": ["GALLIUM NITRATE"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:231855", "medic_stub": true, "name": "gallium cation", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:232548", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20111128", "medic_mention_id": "MEDICNE:2153474c-6d35-512e-aa71-6f1e26ab66b3", "medic_reliability": "MEDIUM", "name": "topotecan hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Topotecan Hydrochloride capsules 0.25/1mg (New dosage form)"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:232599", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111213", "medic_mention_id": "MEDICNE:7c13533c-ed38-5c3f-89ef-ed900e7c7bd2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001355"], "medic_reliability": "MEDIUM", "name": "SKQ-1 bromide", "provided_by": ["infores:medic"], "synonym": ["Vizomitin", "Визомитин"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:232994", "medic_application_numbers": ["010742|011188|011276|040505|040540|086348|087153|087154|087759|088597|088598|089251|089523|089530|089605|089606|089675|089703|089903|204147|204860|210710|212257|213626|213630|213873|214107|214192|214379"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d8411b1b-0429-584b-aa47-f0b3b2b06c3f", "medic_reliability": "HIGH", "name": "Prochlorperazine Edisylate", "provided_by": ["infores:medic"], "synonym": ["PROCHLORPERAZINE EDISYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:233047", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220325", "medic_mention_id": "MEDICNE:ebe609d1-2f33-5bb6-8fbb-632e4a194eb2", "medic_reliability": "MEDIUM", "name": "atropine sulfate", "provided_by": ["infores:medic"], "synonym": ["Atropine Sulfate Injection", "硫酸阿托品注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:233149", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:21c8b94a-4d0f-5df0-9a92-79164a750bf8", "medic_reliability": "LOW", "name": "oxaceprol", "provided_by": ["infores:medic"], "synonym": ["Ox aceprol Bulk", "Ox aceprol capsules 200mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:23316", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20160615", "medic_mention_id": "MEDICNE:c1bd6cb3-3248-5bcb-b6ca-04abb2cd6f00", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001433"], "medic_reliability": "MEDIUM", "name": "citral", "provided_by": ["infores:medic"], "synonym": ["Citral", "Цитраль"], "xref": ["GTOPDB:6327", "PHAROS:C5NTZQNZ98C8", "PUBCHEM.COMPOUND:638011"]}
{"category": ["biolink:Drug"], "id": "CHEBI:233284", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:de32fcc2-5a5d-57b3-9ba5-08a200463156", "medic_reliability": "MEDIUM", "name": "phenytoin sodium", "provided_by": ["infores:medic"], "synonym": ["Phenytoin Sodium Tablets", "Phenytoin sodium ER capsules (300mg) (New dosage form)", "苯妥英钠片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:24689", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19780417", "medic_mention_id": "MEDICNE:125a7a82-f8e9-5fb4-af1d-384c75a98e58", "medic_registration_numbers": ["MOH_RUSSIA:78/368/7"], "medic_reliability": "MEDIUM", "name": "hydroxycinnamic acid", "provided_by": ["infores:medic"], "synonym": ["Hydroxyphenylpropionic Acid + Hydroxycinnamic Acid", "Гидроксифенилпропионовая кислота+Гидрокоричная кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2469", "medic_mention_id": "MEDICNE:9654f1d6-1425-57d4-a042-7c6ee71883ad", "medic_reliability": "EXCLUDED", "medic_smiles": "Nc1ncnc2c1ncn2CCOCP(=O)(O)O", "name": "adefovir", "provided_by": ["infores:medic"], "synonym": ["Adefovir"], "xref": ["DRUGBANK:DB13868", "UNII:6GQP90I798"]}
{"category": ["biolink:Drug"], "id": "CHEBI:247956", "medic_application_numbers": ["006203"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:feedfaab-7748-5186-8c39-9fb991393bc6", "medic_reliability": "HIGH", "name": "cinchocaine", "provided_by": ["infores:medic"], "synonym": ["DIBUCAINE HYDROCHLORIDE", "Dibucaine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1086", "DRUGBANK:DB00527", "DrugCentral:859", "PHAROS:C3CTPTKKG326", "PUBCHEM.COMPOUND:3025", "UNII:L6JW2TJG99"]}
{"category": ["biolink:Drug"], "id": "CHEBI:24814", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100818", "medic_mention_id": "MEDICNE:7c344237-f858-549a-8903-510e450af60a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002010"], "medic_reliability": "MEDIUM", "name": "indole-3-methanol", "provided_by": ["infores:medic"], "synonym": ["Indole-3-carbinol", "Индолкарбинол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:24967", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210105", "medic_mention_id": "MEDICNE:f37bfda4-8cb5-5ea2-a427-6a4ae82ecb95", "medic_reliability": "MEDIUM", "name": "ketogluconic acid", "provided_by": ["infores:medic"], "synonym": ["Ketogluconic Acid and Ambutrol Tablets", "酮咯酸氨丁三醇片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:24996", "medic_application_numbers": ["016679|017510|017608|018499|019367|019634|019685|210332|211428"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:50ae5fd6-e1cb-5bf7-90a2-f08ad7741587", "medic_reliability": "HIGH", "name": "lactate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM CHLORIDE; DEXTROSE; POTASSIUM CHLORIDE; SODIUM CHLORIDE; SODIUM LACTATE", "Lactate"], "xref": ["DRUGBANK:DB14475"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2500", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080229", "medic_mention_id": "MEDICNE:9a538511-db15-5c4c-9aed-b11b758a26c4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001044"], "medic_reliability": "MEDIUM", "name": "Aescin", "provided_by": ["infores:medic"], "synonym": ["Escin", "Sodium Heparin + Phospholipids + Escin", "Гепарин натрия+Фосфолипиды+Эсцин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:25094", "medic_mention_id": "MEDICNE:40a5fc08-2fb8-5828-93dd-7ddc8f66674a", "medic_reliability": "EXCLUDED", "name": "lysine", "provided_by": ["infores:medic"], "synonym": ["Lysine"], "xref": ["DRUGBANK:DB00123", "UNII:K3Z4F929H6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:25107", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:fc871010-94a1-52ad-a1f7-4dc870909905", "medic_reliability": "LOW", "name": "magnesium atom", "provided_by": ["infores:medic"], "synonym": ["10mg/25mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:251408", "medic_application_numbers": ["007959|040043|040044|040131|088873|089624"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V04CX07"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c652de50-f80e-5ce7-a074-2adf3061c745", "medic_reliability": "HIGH", "medic_smiles": "CC[N+](C)(C)c1cccc(O)c1", "name": "edrophonium", "provided_by": ["infores:medic"], "synonym": ["EDROPHONIUM CHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL60745,CHEMBL1128", "DrugCentral:988", "GTOPDB:9073", "PHAROS:3AWUANBKHGR9", "PUBCHEM.COMPOUND:9336,3202,60204238", "UNII:70FP3JLY7N"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:253342", "medic_application_numbers": ["021107|200652|206113|206647|209180|211621|213614"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf205249-78b0-59b0-9398-f491c8e572c9", "medic_reliability": "HIGH", "name": "alosetron", "provided_by": ["infores:medic"], "synonym": ["ALOSETRON HYDROCHLORIDE", "Alosetron"], "xref": ["CHEMBL.COMPOUND:CHEMBL1110", "DRUGBANK:DB00969", "DrugCentral:129", "GTOPDB:2296", "PHAROS:BDZ4KH4ASMZZ", "PUBCHEM.COMPOUND:2099", "UNII:13Z9HTH115"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:25357", "medic_application_numbers": ["022572|050450|050763|062336|064106|064117|064144|064180|202670|203386|211269|211728|214504|214505|215687|215793|216648|216732"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3c4b1472-76dd-50e4-bd6f-444941580bbb", "medic_reliability": "HIGH", "name": "mitomycin", "provided_by": ["infores:medic"], "synonym": ["MITOMYCIN"], "xref": ["UNII:50SG953SK6"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:25457", "medic_stub": true, "name": "myristyl group", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2549", "medic_application_numbers": ["214070"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fe1793de-b364-5fd4-a34c-f976234a1e6a", "medic_registration_numbers": ["MOH_RUSSIA:94/294/2"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)NCC(O)c1ccc(O)c(CO)c1.CC(C)(C)NCC(O)c1ccc(O)c(CO)c1.O=S(=O)(O)O", "name": "albuterol", "provided_by": ["infores:medic"], "synonym": ["ALBUTEROL", "ALBUTEROL SULFATE", "ALBUTEROL SULFATE; BUDESONIDE", "ALBUTEROL SULFATE; IPRATROPIUM BROMIDE", "Albuterol", "Salbutamol", "Salbutamol + Theophylline"], "xref": ["CHEMBL.COMPOUND:CHEMBL714", "DRUGBANK:DB01001", "DrugCentral:105", "PHAROS:RJYZJCG7HWL2", "PUBCHEM.COMPOUND:2083", "UNII:QF8SVZ843E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2550", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:726a1c2e-f2e0-521e-a267-cbf0ab7e7c51", "medic_reliability": "MEDIUM", "name": "albuterol sulfate", "provided_by": ["infores:medic"], "synonym": ["Salbutamal Sulphate 4mg Tablet", "Salbutamol Sulfate Injection", "Salbutamol Sulfate Tablets", "Salbutamol Sulphate 50mg/5ml Injection", "硫酸沙丁胺醇片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2567", "medic_application_numbers": ["020560|021575|075710|075871|076184|076584|076768|076984|077982|078638|079049|090022|090124|090258|090520|090557|202344|206387|214512"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19950929", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f0348f88-b2ba-52a7-aeae-a2177eb8898e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000091"], "medic_reliability": "HIGH", "medic_smiles": "NCCCC(O)(P(=O)([O-])O)P(=O)(O)O.O.O.O.[Na+]", "name": "alendronic acid", "provided_by": ["infores:medic"], "synonym": ["ALENDRONATE SODIUM", "ALENDRONATE SODIUM HYDRATE", "ALENDRONATE SODIUM; CHOLECALCIFEROL", "Alendronate Sodium and Vitamin D3 Tablets", "Alendronate Sodium and Vitamin D3 Tablets (II)", "Alendronic Acid + Alfacalcidol [Set]", "Alendronic Acid + Cholecalciferol", "Alendronic acid", "alendronic acid;colecalciferol"], "xref": ["CHEMBL.COMPOUND:CHEMBL870,CHEMBL675", "DRUGBANK:DB00630", "DrugCentral:112", "GTOPDB:3141", "PHAROS:941BJ1UYW842", "PUBCHEM.COMPOUND:44400013,2088,16760285", "UNII:X1J18R4W8P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2569", "medic_application_numbers": ["019353|075221"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19861229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4e856842-2ab1-51e0-b20f-a2e89d7936b1", "medic_reliability": "HIGH", "name": "alfentanil", "provided_by": ["infores:medic"], "synonym": ["ALFENTANIL HYDROCHLORIDE", "Alfentanil"], "xref": ["CHEMBL.COMPOUND:CHEMBL634", "DRUGBANK:DB00802", "DrugCentral:114", "PHAROS:SZTYDPTRMSYG", "PUBCHEM.COMPOUND:51263", "UNII:1N74HM2BS7"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:25741", "medic_stub": true, "name": "oxide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:258351", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C07AB01"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:a10173e3-cb09-5797-9e5c-1157faeb7a99", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1ccc(OCC(O)CNC(C)C)cc1", "name": "practolol", "provided_by": ["infores:medic"], "synonym": ["Practolol", "Practolol BP 100mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL6995", "DrugCentral:3486", "PHAROS:MYM8XBURZV6G", "PUBCHEM.COMPOUND:4883", "UNII:SUG9176GRW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:25879", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19740412", "medic_mention_id": "MEDICNE:236429c7-6cdf-5fcc-88d7-5c047bb53957", "medic_registration_numbers": ["MOH_RUSSIA:74/331/30"], "medic_reliability": "MEDIUM", "medic_smiles": "OCC(CO)(CO)CO", "name": "pentaerythritol tetranitrate", "provided_by": ["infores:medic"], "synonym": ["Pentaerythritol tetranitrate", "Пентаэритритила тетранитрат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2611", "medic_application_numbers": ["018276|021434|021726|074046|074085|074112|074174|074199|074215|074294|074312|074314|074342|074456|074479|074909|077198|077391|077725|077741|077777|077968|077979|077996|078056|078088|078387|078442|078449|078469|078489|078491|078561|090082|090248|090871|200739|203346|207507"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["N05BA12"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b19a68dd-2a0d-5d41-bf04-8dea53723710", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007350)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Cc1nnc2n1-c1ccc(Cl)cc1C(c1ccccc1)=NC2", "name": "alprazolam", "provided_by": ["infores:medic"], "synonym": ["ALPRAZOLAM", "Alprazolam", "Alprazolam 1.5mg SR Tablet", "Alprazolam Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL661", "DRUGBANK:DB00404", "DrugCentral:136", "GTOPDB:7111", "PHAROS:8RW91QB8HPUC", "PUBCHEM.COMPOUND:2118", "UNII:YU55MQ3IZY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26125", "medic_mention_id": "MEDICNE:f2173df3-1f36-59a2-ad0c-09faf0c4ed89", "medic_reliability": "EXCLUDED", "name": "phytosterols", "provided_by": ["infores:medic"], "synonym": ["Phytosterols"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:261649", "medic_application_numbers": ["050719|202584"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19960815", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b6721008-ae7e-5668-b3fc-8812437570c4", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000194"], "medic_reliability": "HIGH", "name": "bismuth subsalicylate", "provided_by": ["infores:medic"], "synonym": ["BISMUTH SUBSALICYLATE; METRONIDAZOLE; TETRACYCLINE HYDROCHLORIDE", "Bismuth subsalicylate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1120", "DRUGBANK:DB01294", "DrugCentral:4257", "PHAROS:ZBSWB6746TUK", "UNII:62TEY51RR1"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2618", "medic_application_numbers": ["016020|016023|018101|070589|071000|071293|071382|072655|073115|074028|074170|074509|075060|075819|076186|076352|077659|077992|078720|207570|207571|208096|208107|208278|208944|208966|209035|209047|209171|209221|209410|210129|210215|210403|211354|212044|212407|214178|214284|214580|214897|218598"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["N04BB01"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:50787389-51bf-5a7c-92a1-0c3c01a14a4b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005778"], "medic_reliability": "HIGH", "medic_smiles": "NC12CC3CC(CC(C3)C1)C2", "name": "amantadine", "provided_by": ["infores:medic"], "synonym": ["AMANTADINE HYDROCHLORIDE", "Amantadine", "Amantadine Hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL660", "DRUGBANK:DB00915", "DrugCentral:144", "GTOPDB:4128", "PHAROS:CB68GN711F4T", "PUBCHEM.COMPOUND:2130", "UNII:BF4C9Z1J53"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2619", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220713", "medic_mention_id": "MEDICNE:35c69cba-5cd6-5cbd-b73f-faf33ca1dc2a", "medic_reliability": "MEDIUM", "name": "amantadine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Amantadine Hydrochloride Tablets", "盐酸金刚烷胺片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2627", "medic_application_numbers": ["010155"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4b0e93c7-873b-5367-b1d4-43b0c42c7dd6", "medic_reliability": "HIGH", "name": "ambenonium", "provided_by": ["infores:medic"], "synonym": ["AMBENONIUM CHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1652", "DrugCentral:146", "PHAROS:M2W5RT5D46DT", "PUBCHEM.COMPOUND:2131", "UNII:L16PUN799N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26271", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:8aede71b-5e0c-580c-8770-31f26c0ab266", "medic_registration_numbers": ["MOH_RUSSIA:П N012608/01"], "medic_reliability": "MEDIUM", "name": "proline", "provided_by": ["infores:medic"], "synonym": ["Proline", "Пролин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26288", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:ae078895-aaa0-5870-9cbc-7c463e0b479d", "medic_reliability": "LOW", "name": "propanediol", "provided_by": ["infores:medic"], "synonym": ["Propanidiol 0.5gm/10ml Injection", "Propanidiol 5% Solution"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2636", "medic_application_numbers": ["020221|077126|204363"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V03AF05"], "medic_earliest_approval_date": "19951208", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:795fcf97-5037-58a0-9835-6f7566b56ffc", "medic_reliability": "HIGH", "medic_smiles": "NCCCNCCSP(=O)(O)O", "name": "amifostine", "provided_by": ["infores:medic"], "synonym": ["AMIFOSTINE", "Amifostine"], "xref": ["DRUGBANK:DB01143", "UNII:ILA426L95O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2637", "medic_application_numbers": ["050495|050618|062311|062562|063167|063169|063263|063264|063265|063266|063274|063275|063283|063313|063315|063350|064045|064098|064099|064146|203323|204040|205604|205605|207356|218146"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["D06AX12", "J01GB06", "S01AA21"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:63535762-a9e3-588d-b241-a1b0702353b7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001384"], "medic_reliability": "HIGH", "medic_smiles": "NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O", "name": "amikacin", "provided_by": ["infores:medic"], "synonym": ["AMIKACIN SULFATE", "Amikacin", "Amikacin for Injection", "amikacin"], "xref": ["DRUGBANK:DB00479", "UNII:84319SGC3C"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2639", "medic_application_numbers": ["018200|070346|079133|204180"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:83c05d80-602d-5c54-87fe-c024ca3b4e81", "medic_reliability": "HIGH", "medic_smiles": "Cl.N=C(N)NC(=O)c1nc(Cl)c(N)nc1N.O.O", "name": "amiloride", "provided_by": ["infores:medic"], "synonym": ["AMILORIDE HYDROCHLORIDE", "AMILORIDE HYDROCHLORIDE; HYDROCHLOROTHIAZIDE", "Amiloride", "Torsemide 10mg + Amiloride 5mg tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL945", "DRUGBANK:DB00594", "DrugCentral:158", "GTOPDB:2421", "PHAROS:1DKCKQ65KQGJ", "PUBCHEM.COMPOUND:16231", "UNII:7DZO8EB0Z3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26536", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240223", "medic_mention_id": "MEDICNE:b71ba3da-cfe0-5d81-bf9a-68a760a96a0e", "medic_reliability": "MEDIUM", "name": "retinoic acid", "provided_by": ["infores:medic"], "synonym": ["Retinoic Acid Capsules", "维A酸胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2654", "medic_application_numbers": ["018202"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["L02BG01"], "medic_earliest_approval_date": "19810101", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c5695c21-4bc4-5d99-8cd4-bab8385716ec", "medic_reliability": "HIGH", "medic_smiles": "CCC1(c2ccc(N)cc2)CCC(=O)NC1=O", "name": "aminoglutethimide", "provided_by": ["infores:medic"], "synonym": ["AMINOGLUTETHIMIDE", "Aminoglutethimide Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL488", "DrugCentral:164", "PHAROS:9DBHHYR7P7DA", "PUBCHEM.COMPOUND:2145", "UNII:0O54ZQ14I9"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:2664", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19890131", "medic_mention_id": "MEDICNE:c21e8f80-324d-59bb-a29f-c885360ffaea", "medic_reliability": "MEDIUM", "name": "Amiodarone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Amiodarone Hydrochloride Injection", "Amiodarone Hydrochloride Tablets", "盐酸胺碘酮注射液"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:2667", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200731", "medic_mention_id": "MEDICNE:275e9a3f-89a1-504a-abcb-692400628e5c", "medic_reliability": "MEDIUM", "name": "Amitriptyline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Amitriptyline Hydrochloride Tablets", "盐酸阿米替林片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2668", "medic_application_numbers": ["020364|077179|077183|077215|077375|077890|078381|078466|079047|090149|090364|091431|202239"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19920731", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:54179b83-3dda-5d98-a4d1-12c37dcd2c08", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001084"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)C1=C(COCCN)NC(C)=C(C(=O)OC)C1c1ccccc1Cl.O=S(=O)(O)c1ccccc1", "name": "amlodipine", "provided_by": ["infores:medic"], "synonym": ["AMLODIPINE BESYLATE", "AMLODIPINE BESYLATE; ATORVASTATIN CALCIUM", "AMLODIPINE BESYLATE; BENAZEPRIL HYDROCHLORIDE", "AMLODIPINE BESYLATE; CELECOXIB", "AMLODIPINE BESYLATE; HYDROCHLOROTHIAZIDE; OLMESARTAN MEDOXOMIL", "AMLODIPINE BESYLATE; HYDROCHLOROTHIAZIDE; VALSARTAN", "AMLODIPINE BESYLATE; INDAPAMIDE; TELMISARTAN", "AMLODIPINE BESYLATE; OLMESARTAN MEDOXOMIL", "AMLODIPINE BESYLATE; PERINDOPRIL ARGININE", "AMLODIPINE BESYLATE; TELMISARTAN", "AMLODIPINE BESYLATE; VALSARTAN", "AMLODIPINE MALEATE", "Amlodipine", "Amlodipine (5mg) + Nebivolol (5mg) tablet (addl. Strength).", "Amlodipine (As besylate )5mg/10mg + Perindopril 4mg tablet", "Amlodipine (As besylate) 10mg + Perindopril 8mg tablets (additional strength)", "Amlodipine (As besylate) 5mg + Metoprolol (As succinate) ER 25mg (additional strength)", "Amlodipine (As besylate) 5mg/5mg/10mg + valsartan 80mg/160mg/160mg tablet", "Amlodipine + Atenolol", "Amlodipine + Atorvastatin", "Amlodipine + Atorvastatin + Perindopril", "Amlodipine + Bisoprolol", "Amlodipine + Candesartan", "Amlodipine + Hydrochlorothiazide + Telmisartan", "Amlodipine + Indapamide", "Amlodipine + Indapamide + Lisinopril", "Amlodipine + Indapamide + Perindopril", "Amlodipine + Indapamide + Perindopril Arginine", "Amlodipine + Irbesartan", "Amlodipine + Lisinopril", "Amlodipine + Lisinopril + Rosuvastatin", "Amlodipine + Losartan", "Amlodipine + Losartan + Rosuvastatin", "Amlodipine + Nebivolol", "Amlodipine + Perindopril", "Amlodipine + Perindopril + Rosuvastatin", "Amlodipine + Ramipril", "Amlodipine + Rosuvastatin", "Amlodipine + Telmisartan", "Amlodipine + Valsartan", "Amlodipine + Valsartan + Hydrochlorothiazide", "Amlodipine 10mg/10mg+ Telmisartan 40mg/80mg Tablets (Additional Strength)", "Amlodipine 5mg/10mg/5mg/10mg/10mg + Valsartan 160mg/160mg/160mg/160mg/32 0mg + Hydrochlorothizide 12.5mg/12.5mg/25mg/25mg/25 mg Tablets", "Amlodipine Tablets 5mg/10mg (additional indication)", "Amlodipine and Atorvastatin Calcium Tablets", "Amlodipine and Benazepril Capsules", "Bisoprolol + Amlodipine", "Ramipril + Amlodipine", "amlodipine;valsartan", "amlodipine;valsartan;hydrochlorothiazide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1491", "DRUGBANK:DB00381", "DrugCentral:183", "GTOPDB:6981", "PHAROS:LXRLU18NWBGK", "PUBCHEM.COMPOUND:2162", "UNII:1J444QC288"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2669", "medic_approved_authorities": ["NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan"], "medic_earliest_approval_date": "19940407", "medic_mention_id": "MEDICNE:d987e6d0-a91e-5efc-958c-22bf76a89506", "medic_reliability": "MEDIUM", "name": "amlodipine benzenesulfonate", "provided_by": ["infores:medic"], "synonym": ["AMLODIPINE BESILATE", "Amlodipine Benzenesulfonate Capsules", "Amlodipine Benzenesulfonate Orally Disintegrating Tablets", "Amlodipine Benzenesulfonate Tablets", "苯磺酸氨氯地平片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:26710", "medic_application_numbers": ["016366|016677|016733|017013|017038|017427|017464|017514|017670|017864|017867|018016|018090|018184|018247|018314|018380|018497|018502|018503|018800|018803|018897|019022|019217|019218|019319|019329|019465|019480|019635|019759|019912|020178|021569|076316|077407|078177|088909|088911|088912|201833|201850|202832|203352|206171|207310|207956|208122|209476|211968|212070|212248|213688|217535|217796"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A12CA01", "B05CB01", "B05XA03", "S01XA03"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f1c4ca7f-9c7d-520a-94aa-80fedd990919", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000033"], "medic_reliability": "HIGH", "medic_smiles": "[Cl-].[Na+]", "name": "sodium chloride", "provided_by": ["infores:medic"], "synonym": ["CALCIUM CHLORIDE; DEXTROSE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE", "CALCIUM CHLORIDE; DEXTROSE; POTASSIUM CHLORIDE; SODIUM CHLORIDE", "DEXTROSE; MAGNESIUM ACETATE; POTASSIUM ACETATE; SODIUM CHLORIDE", "DEXTROSE; MAGNESIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE", "DEXTROSE; POTASSIUM CHLORIDE; POTASSIUM LACTATE; SODIUM CHLORIDE; SODIUM PHOSPHATE, MONOBASIC ANHYDROUS", "DEXTROSE; POTASSIUM CHLORIDE; POTASSIUM PHOSPHATE, MONOBASIC; SODIUM CHLORIDE; SODIUM LACTATE", "DEXTROSE; POTASSIUM CHLORIDE; SODIUM CHLORIDE", "Macrogol + Sodium Chloride + Potassium Chloride + Sodium Bicarbonate + Anhydrous Sodium Sulfate", "SODIUM CHLORIDE", "Sodium chloride"], "xref": ["DRUGBANK:DB09153"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2673", "medic_mention_id": "MEDICNE:8f948860-fe3c-58e3-b0b7-a6bf7f461a54", "medic_reliability": "EXCLUDED", "name": "amobarbital", "provided_by": ["infores:medic"], "synonym": ["Amobarbital"], "xref": ["DRUGBANK:DB01351"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2674", "medic_application_numbers": ["006441"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["P01BA06"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:634af38d-90fd-5cd6-beba-055c7b058c8f", "medic_reliability": "HIGH", "medic_smiles": "CCN(CC)Cc1cc(Nc2ccnc3cc(Cl)ccc23)ccc1O", "name": "amodiaquine", "provided_by": ["infores:medic"], "synonym": ["AMODIAQUINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1630,CHEMBL682", "DrugCentral:186", "PHAROS:P9KFT9PA9T9X", "PUBCHEM.COMPOUND:16051921,2165", "UNII:220236ED28"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:267413", "medic_application_numbers": ["020610|022205|077806|077807|077883|206336|217592|219422"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20000718", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3ab25bb1-a683-575c-b1cc-3b7407210e40", "medic_reliability": "HIGH", "name": "balsalazide", "provided_by": ["infores:medic"], "synonym": ["BALSALAZIDE DISODIUM", "Balsalazide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201346", "DRUGBANK:DB01014", "DrugCentral:284", "PHAROS:J4Z2ZD967UB2", "UNII:P80AL8J7ZP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2675", "medic_application_numbers": ["018021|072418|072419|072420|072421|072691|072879"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["N06AA17"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:be56cdca-7fc4-50f6-aeb4-453af6d776be", "medic_reliability": "HIGH", "medic_smiles": "Clc1ccc2c(c1)C(N1CCNCC1)=Nc1ccccc1O2", "name": "amoxapine", "provided_by": ["infores:medic"], "synonym": ["AMOXAPINE", "Amoxapine", "Amoxapine 25mg/50mg/100mg/150mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1113", "DRUGBANK:DB00543", "DrugCentral:191", "GTOPDB:201", "PHAROS:289V2KZN46SC", "PUBCHEM.COMPOUND:2170", "UNII:R63VQ857OT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2676", "medic_application_numbers": ["213004"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["J01CA04"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:29168fa5-123a-5e90-90d6-d5841fc04ad2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000736"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](N)c3ccc(O)cc3)C(=O)N2[C@H]1C(=O)O", "name": "amoxicillin", "provided_by": ["infores:medic"], "synonym": ["AMOXICILLIN", "AMOXICILLIN + SULBACTAM", "AMOXICILLIN HYDRATE", "AMOXICILLIN; CLARITHROMYCIN; LANSOPRAZOLE", "AMOXICILLIN; CLARITHROMYCIN; OMEPRAZOLE", "AMOXICILLIN; CLARITHROMYCIN; VONOPRAZAN FUMARATE", "AMOXICILLIN; OMEPRAZOLE MAGNESIUM; RIFABUTIN", "AMOXICILLIN; VONOPRAZAN FUMARATE", "Amoxicillin", "Amoxicillin Capsules", "Amoxicillin Granules", "Amoxicillin Sodium and Clavulanate Potassium for Injection", "Amoxicillin Sodium and Clavulanate Potassium for Injection (II)", "Amoxicillin Sodium and Sulbactam Sodium for Injection", "Amoxicillin Tablets", "Amoxicillin and Potassium Clavulanate Tablets", "Amoxycillin", "Amoxycillin 125mg/5ml & 250mg/5ml Syrup", "Amoxycillin 250mg/500mg Capsule", "Amoxycillin Trihydrate 125mg Dispersible Tablet", "注射用阿莫西林钠克拉维酸钾"], "xref": ["DRUGBANK:DB01060", "UNII:9EM05410Q9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2677", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080909", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:46ac83eb-6542-5ef1-ab74-7514cc048a64", "medic_registration_numbers": ["MOH_RUSSIA:П N015030/01-2003"], "medic_reliability": "LOW", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](N)c3ccc(O)cc3)C(=O)N2[C@H]1C(=O)O.O=C([O-])[C@H]1/C(=C/CO)O[C@@H]2CC(=O)N21.[K+]", "name": "Augmentin", "provided_by": ["infores:medic"], "synonym": ["Augmentin®", "Аугментин®"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2679", "medic_application_numbers": ["204325|204326|209253"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19840831", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5f5a2ccc-3836-57ba-ad79-e543c837f4cb", "medic_reliability": "HIGH", "name": "amphetamine", "provided_by": ["infores:medic"], "synonym": ["AMPHETAMINE", "AMPHETAMINE SULFATE", "AMPHETAMINE; AMPHETAMINE ASPARTATE/DEXTROAMPHETAMINE SULFATE", "Amphetamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL405", "DRUGBANK:DB00182", "DrugCentral:195", "PHAROS:HCAJ4FW3L8M5", "PUBCHEM.COMPOUND:3007", "UNII:CK833KGX7E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26806", "medic_mention_id": "MEDICNE:1218f29c-3a79-54d1-9ec6-132c3b6fa005", "medic_reliability": "EXCLUDED", "name": "succinate", "provided_by": ["infores:medic"], "synonym": ["Succinate"], "xref": ["DRUGBANK:DB00139"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2682", "medic_application_numbers": ["050313|050314|050341|050724|050729|050740|060517|060570|062728|063206|064062|064141|212514|212967|214010|215354"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["A01AB04", "A07AA07", "G01AA03", "J02AA01"], "medic_earliest_approval_date": "19760315", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:56ed7971-4a89-543d-8177-cb8c92fabe29", "medic_registration_numbers": ["MOH_RUSSIA:76/252/1"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1[C@H](O)[C@@H](C)/C=C/C=C/C=C/C=C/C=C/C=C/C=C/[C@H](O[C@@H]2O[C@H](C)[C@@H](O)[C@H](N)[C@@H]2O)C[C@@H]2O[C@](O)(C[C@@H](O)C[C@@H](O)[C@H](O)CC[C@@H](O)C[C@@H](O)CC(=O)O[C@H]1C)C[C@H](O)[C@H]2C(=O)O", "name": "amphotericin B", "provided_by": ["infores:medic"], "synonym": ["AMPHOTERICIN B", "Amphotericin B", "Amphotericin B + Meglumine", "Amphotericin B Emulsion 5mg/ml (Addl. Indication)", "Amphotericin B [cholesteryl sulfate complex]", "Amphotericin B [lipid complex]", "Amphotericin B [liposomal]", "Amphotericin B for Injection", "Amphotericin b"], "xref": ["DRUGBANK:DB00681", "UNII:7XU7A7DROE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26833", "medic_application_numbers": ["002918"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f889f5e4-23fd-509c-95d4-1b6056cbddbd", "medic_registration_numbers": ["MOH_RUSSIA:64/228/224"], "medic_reliability": "LOW", "name": "sulfur atom", "provided_by": ["infores:medic"], "synonym": ["SULFUR", "Sulfur"], "xref": ["UNII:70FD1KFU70"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2686", "medic_application_numbers": ["018700|074616|075513|075542"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C01CE01"], "medic_earliest_approval_date": "19840731", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cddb826f-0c92-5d54-91e9-18b3dd1bf4e5", "medic_reliability": "HIGH", "medic_smiles": "Nc1cc(-c2ccncc2)c[nH]c1=O", "name": "amrinone", "provided_by": ["infores:medic"], "synonym": ["INAMRINONE LACTATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL12856", "DrugCentral:201", "GTOPDB:7202", "PHAROS:DCWWW3BX6XVT", "PUBCHEM.COMPOUND:3698", "UNII:JUT23379TN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2687", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["L01XX01"], "medic_earliest_approval_date": "19920226", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:d2622114-8328-5d0b-b353-59438b3431d0", "medic_reliability": "HIGH", "medic_smiles": "COc1cc(NS(C)(=O)=O)ccc1Nc1c2ccccc2nc2ccccc12", "name": "amsacrine", "provided_by": ["infores:medic"], "synonym": ["Amsacrine", "Amsacrine Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL43", "DRUGBANK:DB00276", "PHAROS:FBDNTRGAXP4D", "PUBCHEM.COMPOUND:2179", "UNII:00DPD30SOY"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:26977", "medic_stub": true, "name": "thiosulfate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:26986", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081030", "medic_mention_id": "MEDICNE:d1d60fa7-4d8f-5898-a450-f0253f298364", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-008630/08"], "medic_reliability": "MEDIUM", "name": "threonine", "provided_by": ["infores:medic"], "synonym": ["Threonine", "Треонин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27013", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20241121", "medic_mention_id": "MEDICNE:748c353e-d095-586f-8c85-6a27a268e070", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005789)-(ГП-RU)"], "medic_reliability": "MEDIUM", "name": "tocopherol", "provided_by": ["infores:medic"], "synonym": ["Tocopherol", "Токоферол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2704", "medic_application_numbers": ["020541|078058|078322|078485|078921|078944|078984|079007|079220|090088|090568|090732|091051|091164|091177|091242|091331|200654|206037|212434"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["L02BG03"], "medic_earliest_approval_date": "19951227", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:673a12a7-04df-5eed-bb63-c9395d7275ce", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000589"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C#N)c1cc(Cn2cncn2)cc(C(C)(C)C#N)c1", "name": "anastrozole", "provided_by": ["infores:medic"], "synonym": ["ANASTROZOLE", "Anastrozole", "Anastrozole Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1399", "DRUGBANK:DB01217", "DrugCentral:210", "GTOPDB:5137", "PHAROS:K661VM6CHSU8", "PUBCHEM.COMPOUND:2187", "UNII:2Z07MYW1AZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:271436", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071126", "medic_mention_id": "MEDICNE:1860c0c6-891f-578d-afc8-337c76b971c3", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-004217/07"], "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)CCO", "name": "N,N-dimethylethanolamine", "provided_by": ["infores:medic"], "synonym": ["2-(Dimethylamino)ethanol", "2-(Диметиламино)этанол", "Deanol"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:27300", "medic_stub": true, "name": "vitamin D", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27306", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20181225", "medic_mention_id": "MEDICNE:03ebdb68-fa63-541a-adf2-1bb1414db647", "medic_reliability": "MEDIUM", "name": "vitamin B6", "provided_by": ["infores:medic"], "synonym": ["Vitamin B6 Injection", "Vitamin B6 Tablets", "维生素B6片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27363", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20041012", "medic_mention_id": "MEDICNE:ccde6659-0ea0-58fa-b4bd-4b321245bc2d", "medic_reliability": "HIGH", "medic_smiles": "[Zn]", "name": "zinc atom", "provided_by": ["infores:medic"], "synonym": ["zinc"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27372", "medic_mention_id": "MEDICNE:258b9936-337c-5d51-8816-f1d8b6bc1aa4", "medic_reliability": "EXCLUDED", "name": "1D-chiro-inositol", "provided_by": ["infores:medic"], "synonym": ["D-chiro-inositol"], "xref": ["DRUGBANK:DB15350"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27373", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A11HA30", "D03AX03", "S01XA12"], "medic_earliest_approval_date": "20060901", "medic_mention_id": "MEDICNE:3c0d4f75-95de-5720-8904-eca36e24c97f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000614"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)(CO)[C@@H](O)C(=O)NCCCO", "name": "pantothenol", "provided_by": ["infores:medic"], "synonym": ["Dexpanthenol", "Dexpanthenol + Chlorhexidine", "Sodium Heparin + Dexpanthenol + Dimethylsulfoxide", "Декспантенол"], "xref": ["UNII:1O6C93RI7Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2739", "medic_application_numbers": ["013428|086046"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2093f0c0-fdd4-5f11-a20f-7027209f389b", "medic_reliability": "HIGH", "name": "anisotropine methylbromide", "provided_by": ["infores:medic"], "synonym": ["ANISOTROPINE METHYLBROMIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27432", "medic_mention_id": "MEDICNE:7a742d81-f801-5ba5-8dc6-bc0e8a2fc66e", "medic_reliability": "EXCLUDED", "name": "alpha-linolenic acid", "provided_by": ["infores:medic"], "synonym": ["Alpha-linolenic acid"], "xref": ["DRUGBANK:DB00132"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27436", "medic_application_numbers": ["003158|003240|080214|080256|080271|080281|080308|080309|080310|080313|080475|080767|080839|080931|080933|080973|083836|083976|084241|084244|084287|084310|084312|084331|084642|084967|085125|085270|086450|087092|087111|087147|087222|087750|204851|215270"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_atc_codes": ["G03BA02", "G03EK01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2152b52c-055a-5e93-a447-66619e55cbae", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CCC(=O)C=C1CC[C@@H]1[C@@H]2CC[C@@]2(C)[C@H]1CC[C@]2(C)O", "name": "methyltestosterone", "provided_by": ["infores:medic"], "synonym": ["METHYLTESTOSTERONE", "Methyltestosterone", "Methyltestosterone Acetate Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1395", "DRUGBANK:DB06710", "DrugCentral:3356", "GTOPDB:6945", "PHAROS:HR2FPVATDP41", "PUBCHEM.COMPOUND:6010", "UNII:V9EFU16ZIF"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27446", "medic_application_numbers": ["060003|060004|060006|060007|060134|060136|060456|060518|060711|061149|061150|061164|061206|061410|061411|061528|061529|061530|061571|061624|061651|061758|061815|061836|062001|062002|062153|062156|062270|062273|062935|062936|062981|064071|065435|090549"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b3309546-5839-552a-a1c3-d9be376cf4a8", "medic_registration_numbers": ["MOH_RUSSIA:64/228/288"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)COc3ccccc3)C(=O)N2[C@H]1C(=O)[O-].[K+]", "name": "phenoxymethylpenicillin", "provided_by": ["infores:medic"], "synonym": ["PENICILLIN V", "PENICILLIN V POTASSIUM", "Phenoxymethylpenicillin"], "xref": ["DRUGBANK:DB00417", "UNII:Z61I075U2W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27470", "medic_application_numbers": ["005897|006135|040514|040582|040625|040756|040796|080600|080680|080686|080691|080755|080784|080816|080903|081066|083000|083133|083141|083526|083598|084158|084472|084915|085061|085141|086296|087438|087828|088199|088730|088949|089177|089202|090035|091145|202437|202522|204418|211064|216395"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["B03BB01", "B03BB51", "V04CX02"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2a575610-e205-54ca-8f12-53b063873b41", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001467"], "medic_reliability": "HIGH", "medic_smiles": "Nc1nc(=O)c2nc(CNc3ccc(C(=O)N[C@@H](CCC(=O)O)C(=O)O)cc3)cnc2[nH]1", "name": "folic acid", "provided_by": ["infores:medic"], "synonym": ["FOLIC ACID", "Folic Acid", "Folic Acid + Cyanocobalamin", "Folic acid", "Iron Fumarate + Folic Acid"], "xref": ["DRUGBANK:DB00158", "UNII:935E97BOY8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27478", "medic_application_numbers": ["012775|088452|088486"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C02AA05"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0b7461fc-c36c-5fc5-8261-89de756226fc", "medic_reliability": "HIGH", "medic_smiles": "COC(=O)[C@H]1[C@H]2C[C@@H]3c4[nH]c5ccccc5c4CCN3C[C@H]2C[C@@H](OC(=O)c2cc(OC)c(OC)c(OC)c2)[C@@H]1OC", "name": "deserpidine", "provided_by": ["infores:medic"], "synonym": ["DESERPIDINE", "DESERPIDINE; HYDROCHLOROTHIAZIDE", "DESERPIDINE; METHYCLOTHIAZIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200515", "DrugCentral:810", "PHAROS:LS7KKZTB4AX3", "PUBCHEM.COMPOUND:8550", "UNII:9016E3VB47"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27504", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["L01DC03"], "medic_earliest_approval_date": "20080409", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:ef46de60-417b-50e8-b16b-a7dfff20d95c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008421"], "medic_reliability": "HIGH", "medic_smiles": "CO[C@@]12[C@H](COC(N)=O)C3=C(C(=O)C(C)=C(N)C3=O)N1C[C@@H]1N[C@@H]12", "name": "mitomycin C", "provided_by": ["infores:medic"], "synonym": ["MITOMYCIN C", "Mitomycin"], "xref": ["DRUGBANK:DB00305"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27547", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071109", "medic_mention_id": "MEDICNE:c5784505-41cb-52d5-822f-4b59439f69a1", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-003700/07"], "medic_reliability": "MEDIUM", "name": "zeaxanthin", "provided_by": ["infores:medic"], "synonym": ["zeaxanthin", "зеаксантин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27560", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19871028", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_mention_id": "MEDICNE:b73b3ca6-783b-53f8-bcad-39b5ec16f3ff", "medic_registration_numbers": ["MOH_RUSSIA:87/1154/1"], "medic_reliability": "MEDIUM", "name": "boron atom", "provided_by": ["infores:medic"], "synonym": ["Sennosides A and B", "Сеннозиды А и В"], "xref": ["UNII:8L6LAK9BTR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27563", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060210", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:a31c5927-62c0-5a1f-a868-c3d1aa5cf8cd", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001245"], "medic_reliability": "LOW", "name": "arsenic atom", "provided_by": ["infores:medic"], "synonym": ["Armenicum", "Арменикум"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:27568", "medic_stub": true, "name": "selenium atom", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27569", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20140819", "medic_mention_id": "MEDICNE:7efe5953-0367-5756-953f-fda44a922cf4", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000905"], "medic_reliability": "MEDIUM", "name": "arabinogalactan", "provided_by": ["infores:medic"], "synonym": ["Arabinogalactan", "Арабиногалактан"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27585", "medic_mention_id": "MEDICNE:79c1a7a1-9efc-5bcb-9489-0466576bd75d", "medic_reliability": "EXCLUDED", "name": "selenomethionine", "provided_by": ["infores:medic"], "synonym": ["Selenomethionine"], "xref": ["DRUGBANK:DB11142", "UNII:964MRK2PEL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27594", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080526", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:89a99dd6-3f49-522b-b859-e0903a7ebdac", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003356)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "carbon atom", "provided_by": ["infores:medic"], "synonym": ["Aluminum Oxide + Carbon", "Алюминия оксид+Углерод"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27607", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080801", "medic_mention_id": "MEDICNE:c875c2d2-384a-56fe-abca-07eb4182fd80", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006132/08"], "medic_reliability": "MEDIUM", "medic_smiles": "Cc1ccc(C(C)C)c(O)c1", "name": "thymol", "provided_by": ["infores:medic"], "synonym": ["Thymol", "Тимол"], "xref": ["GTOPDB:2499", "PHAROS:D4V1F6FXMJ2N", "PUBCHEM.COMPOUND:6989", "UNII:3J50XA376E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27644", "medic_application_numbers": ["050404"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:16ecd29a-9c8e-5b50-b9cd-5de2301a8c4a", "medic_reliability": "HIGH", "name": "chlortetracycline", "provided_by": ["infores:medic"], "synonym": ["CHLORTETRACYCLINE HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27662", "medic_application_numbers": ["016818|016820"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cfefac1f-cf68-5aa1-b9d4-2b58d7a31755", "medic_reliability": "HIGH", "name": "benzquinamide", "provided_by": ["infores:medic"], "synonym": ["BENZQUINAMIDE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201250", "DrugCentral:331", "GTOPDB:7124", "PHAROS:6L1CLVFHP6ST", "PUBCHEM.COMPOUND:2342"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27690", "medic_application_numbers": ["008943|012945|040195|040904|083320|084498|084840|087654|087686|088882|089753|090779|203434|203917|204691|205301|205530|207401|207503|207659|209734|210423|210588|211069|211151|211372|211556|212089|213706|214282|215101|217197|218023"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ee6f3a2f-0819-50ba-a3e6-c4d81d3d5178", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003122"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1nnc(S([NH-])(=O)=O)s1.[Na+]", "name": "acetazolamide", "provided_by": ["infores:medic"], "synonym": ["ACETAZOLAMIDE", "ACETAZOLAMIDE SODIUM", "Acetazolamide", "Acetazolamide Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL20", "DRUGBANK:DB00819", "DrugCentral:56", "GTOPDB:6792", "PHAROS:9XY1117CMPQQ", "PUBCHEM.COMPOUND:1986", "UNII:O3FX965V0I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27701", "medic_application_numbers": ["050286|060179|060586|060634|060760|060770|060869"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19710714", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:97bf6963-d146-5e5d-b148-a9078d9464f4", "medic_registration_numbers": ["MOH_RUSSIA:71/509/8"], "medic_reliability": "HIGH", "name": "oxytetracycline", "provided_by": ["infores:medic"], "synonym": ["Hydrocortisone + Oxytetracycline", "OXYTETRACYCLINE", "OXYTETRACYCLINE CALCIUM", "OXYTETRACYCLINE HYDROCHLORIDE", "OXYTETRACYCLINE HYDROCHLORIDE; POLYMYXIN B SULFATE", "Oxytetracycline"], "xref": ["DRUGBANK:DB00595"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:27732", "medic_application_numbers": ["020793|077233|077304|077906|077997|078002|090064|090077|090357|090827|091102|205013|207400|213202"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["D11AX26", "N06BC01"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:dd91f9a1-b389-510f-854b-1c085654bdd4", "medic_registration_numbers": ["MOH_RUSSIA:64/228/120"], "medic_reliability": "HIGH", "medic_smiles": "Cn1c(=O)c2c(ncn2C)n(C)c1=O", "name": "caffeine", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; ASPIRIN; CAFFEINE", "ANHYDROUS CAFFEINE", "CAFFEINE CITRATE", "Caffeine", "Caffeine + Naproxen + Paracetamol", "Caffeine + Paracetamol", "Caffeine + Paracetamol + Chlorphenamine", "Caffeine + Paracetamol + Phenylephrine + Chlorphenamine", "Caffeine + Paracetamol + Phenylephrine + Chlorphenamine and Paracetamol + Phenylephrine + Chlorphenamine [set]", "Caffeine citrate", "Caffeine(as Citrate) 10mg / ml Injection", "Dihydroergocriptine + Caffeine", "caffeine", "caffeine citrate"], "xref": ["CHEMBL.COMPOUND:CHEMBL113", "DRUGBANK:DB00201", "DrugCentral:463", "GTOPDB:407", "PHAROS:K2U7RXHYNVYT", "PUBCHEM.COMPOUND:2519", "UNII:3G6A5W338E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27777", "medic_application_numbers": ["018749"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["G04BX03"], "medic_earliest_approval_date": "19830531", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e7f34a64-72dc-51f8-8cfc-2914a7d7cb61", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)NO", "name": "acetohydroxamic acid", "provided_by": ["infores:medic"], "synonym": ["ACETOHYDROXAMIC ACID"], "xref": ["UNII:4RZ82L2GY5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27779", "medic_application_numbers": ["050051|050448|060212|060618|062279"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["D01AA08", "D01BA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1dc4f761-7e22-5e5f-997e-41b9797b1dfe", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009852)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "COC1=CC(=O)C[C@@H](C)[C@]12Oc1c(Cl)c(OC)cc(OC)c1C2=O", "name": "griseofulvin", "provided_by": ["infores:medic"], "synonym": ["GRISEOFULVIN, MICROCRYSTALLINE", "GRISEOFULVIN, MICROSIZE", "GRISEOFULVIN, ULTRAMICROCRYSTALLINE", "Griseofulvin"], "xref": ["DRUGBANK:DB00400", "UNII:32HRV3E3D5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27786", "medic_application_numbers": ["022041|080778|084629|084921|085528|085998"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8553645e-8c11-58ea-9aaf-33e990e96d89", "medic_reliability": "HIGH", "name": "hydroxocobalamin", "provided_by": ["infores:medic"], "synonym": ["HYDROXOCOBALAMIN", "Hydroxocobalamin", "Hydroxycobalamine Injection", "hydroxocobalamin"], "xref": ["DRUGBANK:DB00200", "UNII:Q40X8H422O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27796", "medic_application_numbers": ["017530|017531|076546|076570|086577|087939|088804|088960|089043|089094|091329|091330|205950|219606"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dee1d89a-225a-5986-ba0a-843d2596cc67", "medic_reliability": "HIGH", "name": "trimethobenzamide", "provided_by": ["infores:medic"], "synonym": ["TRIMETHOBENZAMIDE HYDROCHLORIDE", "Trimethobenzamide"], "xref": ["DRUGBANK:DB00662", "UNII:W2X096QY97"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27810", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_atc_codes": ["D10AX02", "S01AX06"], "medic_earliest_approval_date": "20120702", "medic_mention_id": "MEDICNE:b7e4377a-bf37-5c25-9f42-f2537660ea28", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000362"], "medic_reliability": "MEDIUM", "medic_smiles": "Oc1cccc(O)c1", "name": "resorcinol", "provided_by": ["infores:medic"], "synonym": ["Resorcinol", "Resorcinol Injection", "Resorcinol Orally Disintegrating Tablets", "Резорцинол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27834", "medic_application_numbers": ["020122|077841|203554"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L01XX08"], "medic_earliest_approval_date": "19911011", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b64e1460-524a-53a9-862f-8e28b778c624", "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1O[C@@H](n2cnc3c2N=CNC[C@H]3O)C[C@@H]1O", "name": "pentostatin", "provided_by": ["infores:medic"], "synonym": ["PENTOSTATIN", "Pentostatin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1580", "DRUGBANK:DB00552", "DrugCentral:2098", "GTOPDB:4805", "PHAROS:9YTMPRAKUUAL", "PUBCHEM.COMPOUND:439693", "UNII:395575MZO7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2788", "medic_application_numbers": ["019779|020258|077764"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19871231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d2da3fe8-2ec7-5def-a8fe-df84e8efbfd0", "medic_reliability": "HIGH", "medic_smiles": "Cl.Nc1cc(Cl)c(N=C2NCCN2)c(Cl)c1", "name": "apraclonidine", "provided_by": ["infores:medic"], "synonym": ["APRACLONIDINE HYDROCHLORIDE", "Apraclonidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL647", "DRUGBANK:DB00964", "DrugCentral:229", "GTOPDB:7117", "PHAROS:1NQSHR3BBNW5", "PUBCHEM.COMPOUND:2216", "UNII:843CEN85DI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27882", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["M04AC01"], "medic_earliest_approval_date": "20201228", "medic_mention_id": "MEDICNE:d71d1e2b-3446-5c46-a492-39fbcb16b460", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006678"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2c(c(OC)c1OC)-c1ccc(OC)c(=O)cc1[C@@H](NC(C)=O)CC2", "name": "(S)-colchicine", "provided_by": ["infores:medic"], "synonym": ["Colchicine"], "xref": ["CHEMBL.COMPOUND:CHEMBL107", "DRUGBANK:DB01394", "GTOPDB:2367", "PHAROS:H8JH9SUA1QP3", "PUBCHEM.COMPOUND:6167"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27897", "medic_mention_id": "MEDICNE:9d36383e-617b-5b08-ae91-20b8f12e8dd6", "medic_reliability": "EXCLUDED", "name": "tryptophan", "provided_by": ["infores:medic"], "synonym": ["Tryptophan"], "xref": ["DRUGBANK:DB00150"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:27899", "medic_application_numbers": ["018057|074656|074713|074735|074814|075036|091062|206774|207323|218868"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["L01XA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d8e92536-590b-5747-9425-6a589135c7f8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002388"], "medic_reliability": "HIGH", "name": "cisplatin", "provided_by": ["infores:medic"], "synonym": ["CISPLATIN", "Cisplatin"], "xref": ["DRUGBANK:DB00515", "UNII:Q20Q21Q62J"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:27953", "medic_mention_id": "MEDICNE:c4d44b7b-3182-55ab-83e0-65039d4d3b11", "medic_reliability": "EXCLUDED", "name": "physostigmine", "provided_by": ["infores:medic"], "synonym": ["Physostigmine"], "xref": ["CHEMBL.COMPOUND:CHEMBL94,CHEMBL338975", "DRUGBANK:DB00981", "DrugCentral:2159", "PHAROS:W2UV4MXDP5AB", "PUBCHEM.COMPOUND:5983,5992", "UNII:9U1VM840SP"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:27974", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G03CA04", "G03CC06"], "medic_earliest_approval_date": "20060526", "medic_mention_id": "MEDICNE:cb99c6a6-0e45-5433-a6d9-9b9b88c2b871", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000248"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@@H]3c4ccc(O)cc4CC[C@H]3[C@@H]1C[C@@H](O)[C@@H]2O", "name": "estriol", "provided_by": ["infores:medic"], "synonym": ["Estriol"], "xref": ["CHEMBL.COMPOUND:CHEMBL193482", "DRUGBANK:DB04573", "DrugCentral:3187", "GTOPDB:2821", "PHAROS:8SYMQZFWNLLN", "PUBCHEM.COMPOUND:5756", "UNII:FB33469R8E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:27999", "medic_application_numbers": ["012095"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_atc_codes": ["A10BB03", "V04CA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["GLUCOSE_REGULATOR", "RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:462f0c23-8f8e-5651-a5f1-c9ff17044d76", "medic_reliability": "HIGH", "medic_smiles": "CCCCNC(=O)NS(=O)(=O)c1ccc(C)cc1", "name": "tolbutamide", "provided_by": ["infores:medic"], "synonym": ["TOLBUTAMIDE", "TOLBUTAMIDE SODIUM", "Tolbutamide", "Tolbutamide Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL782", "DRUGBANK:DB01124", "DrugCentral:2696", "GTOPDB:6848", "PHAROS:TKVYUHLRN63T", "PUBCHEM.COMPOUND:5505", "UNII:982XCM1FOI"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28001", "medic_application_numbers": ["050606|050671|060180|061667|062476|062663|062682|062716|062812|062879|062911|062912|062931|062933|062956|063076|063321|065397|065401|065432|065453|065455|065478|065490|065510|090250|090439|091377|091469|091532|091554|200837|201048|201250|201251|202274|202275|202464|203300|204107|204125|204360|205694|205779|205780|206243|206616|208910|209481|210274|210729|211962|212332|213059|214913|215195|215196|215197|215324|215338|215821|216591|217401|217489|218140"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A07AA09", "J01XA01", "S01AA28"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5416f474-8b64-5fc5-9da1-d0985396223f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002058"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@H](CC(C)C)C(=O)N[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)N[C@H]2C(=O)N[C@H]3C(=O)N[C@H](C(=O)N[C@H](C(=O)O)c4cc(O)cc(O)c4-c4cc3ccc4O)[C@H](O)c3ccc(c(Cl)c3)Oc3cc2cc(c3O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O[C@H]2C[C@](C)(N)[C@H](O)[C@H](C)O2)Oc2ccc(cc2Cl)[C@H]1O.Cl", "name": "vancomycin", "provided_by": ["infores:medic"], "synonym": ["VANCOMYCIN", "VANCOMYCIN HYDROCHLORIDE", "Vancomycin"], "xref": ["DRUGBANK:DB00512", "UNII:6Q205EH1VU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28044", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:8a14188b-d029-5aac-8012-5c4db8d40bbf", "medic_registration_numbers": ["MOH_RUSSIA:П N012611/01"], "medic_reliability": "MEDIUM", "name": "phenylalanine", "provided_by": ["infores:medic"], "synonym": ["Phenylalanine", "Фенилаланин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28052", "medic_application_numbers": ["013378|070753|070754|070870|071893|071894"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A10BB31"], "medic_earliest_approval_date": "19820101", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:14ed67f5-88d1-5975-82ee-8ad673d429a0", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)c1ccc(S(=O)(=O)NC(=O)NC2CCCCC2)cc1", "name": "acetohexamide", "provided_by": ["infores:medic"], "synonym": ["ACETOHEXAMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1589", "DrugCentral:57", "PHAROS:2CPRF29351GZ", "PUBCHEM.COMPOUND:1989", "UNII:QGC8W08I6I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28077", "medic_application_numbers": ["050420|050429|050627|064150|064217|065028|065390|065421|065502|090034|091181|204101|205039|206736"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3ffdb873-d088-5a6f-a2b5-d5e9831270d4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000741"], "medic_reliability": "HIGH", "name": "rifampicin", "provided_by": ["infores:medic"], "synonym": ["RIFAMPICIN", "RIFAMPIN", "Rifampicin", "Rifampicin +Piperine (200mg + 10mg ) Capsules", "Rifampicin 150mg/300mg Capsule", "Rifampicin 450mg", "Rifampicin Sodium Injection", "Rifampicin syrup", "Rifampin", "Rifampin Capsules", "Rifampin for Injection"], "xref": ["DRUGBANK:DB01045", "UNII:VJT6J7R4TR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28115", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20091104", "medic_mention_id": "MEDICNE:dbfc7a1e-c120-5988-a3d9-feedc36423c5", "medic_reliability": "MEDIUM", "name": "methylcobalamin", "provided_by": ["infores:medic"], "synonym": ["Methylcobalamin 1500 mcg + Gabapentin SR 600 mg film coated tablets", "Methylcobalamin Injection", "Methylcobalamin Tablets", "甲钴胺片"], "xref": ["UNII:BR1SN1JS2W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28119", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20221005", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:054e67a9-ba76-535b-812a-c9a06fe63e3b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001286)-(РГ-RU)"], "medic_reliability": "LOW", "name": "2,3,7,8-tetrachlorodibenzodioxine", "provided_by": ["infores:medic"], "synonym": ["Dioxide", "Диазоксид"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:28125", "medic_stub": true, "name": "all-cis-docosa-4,7,10,13,16,19-hexaenoic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28171", "medic_mention_id": "MEDICNE:f8ec0b22-ea3c-5bbf-9c14-33323f05de00", "medic_reliability": "EXCLUDED", "name": "5-hydroxytryptophan", "provided_by": ["infores:medic"], "synonym": ["5-htp"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:28241", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A03AD01", "G04BE02", "G04BE52"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:ff01c78d-633d-529d-901a-0b464c4ea8a2", "medic_registration_numbers": ["MOH_RUSSIA:64/228/193"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(Cc2nccc3cc(OC)c(OC)cc23)cc1OC", "name": "papaverine", "provided_by": ["infores:medic"], "synonym": ["Bendazole+Papaverine", "Codeine + Morphine + Noscapine + Papaverine + Thebaine", "Papaverine", "Papaverine hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL19224", "DRUGBANK:DB01113", "PHAROS:K6DDSGYUMMXB", "PUBCHEM.COMPOUND:4680"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28260", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20040412", "medic_mention_id": "MEDICNE:384ba615-55a0-5b15-af50-7a399e9a349c", "medic_registration_numbers": ["MOH_RUSSIA:Р N003294/01"], "medic_reliability": "HIGH", "name": "galactose", "provided_by": ["infores:medic"], "synonym": ["Galactose", "Goal"], "xref": ["DRUGBANK:DB11735"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28262", "medic_application_numbers": ["017788|076185"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["G04BX13", "M02AX03"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:443b3588-5d89-5fa1-b0ad-5f11f37e4445", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000501"], "medic_reliability": "HIGH", "medic_smiles": "C[S+](C)[O-]", "name": "dimethyl sulfoxide", "provided_by": ["infores:medic"], "synonym": ["DIMETHYL SULFOXIDE", "Diclofenac + Dimethyl sulfoxide + Chondroitin sulfate", "Dimethyl sulfoxide"], "xref": ["DRUGBANK:DB01093", "UNII:YOW8V9698H"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28300", "medic_mention_id": "MEDICNE:1b5327d4-3f5a-53e7-a3e5-ebcd1d921012", "medic_reliability": "EXCLUDED", "name": "glutamine", "provided_by": ["infores:medic"], "synonym": ["Glutamine"], "xref": ["DRUGBANK:DB00130"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28304", "medic_application_numbers": ["018237"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:485508bd-4f36-564d-b6c4-1f342438cc3e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001904"], "medic_reliability": "HIGH", "name": "heparin", "provided_by": ["infores:medic"], "synonym": ["Bemiparin", "ENOXAPARIN SODIUM", "Enoxaparin", "Enoxaparin Sodium", "HEPARIN CALCIUM", "HEPARIN SODIUM", "HEPARIN SODIUM; TAUROLIDINE", "Heparin", "Heparin Ointment", "enoxaparin sodium"], "xref": ["CHEMBL.COMPOUND:CHEMBL1909300", "DRUGBANK:DB01109", "DRUGBANK:DB01225", "DRUGBANK:DB09258", "DrugCentral:1358", "PHAROS:heparin", "UNII:T2410KM04A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28312", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20091230", "medic_mention_id": "MEDICNE:a289e37a-a2c1-54c8-9fb1-5037ea62bc3d", "medic_reliability": "LOW", "name": "chlorhexidine gluconate", "provided_by": ["infores:medic"], "synonym": ["Chlorohexidine Gluconate Gel 0.2%"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28329", "medic_application_numbers": ["012697"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D05AD01", "D05BA01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:31c372a8-761e-5dd6-b672-e76ed636ca19", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc2cc3c(C)cc(=O)oc3c(C)c2o1", "name": "trioxsalen", "provided_by": ["infores:medic"], "synonym": ["TRIOXSALEN", "Trimethyl Psoralen"], "xref": ["CHEMBL.COMPOUND:CHEMBL1475", "PHAROS:92UQ9WMQ4CL4", "PUBCHEM.COMPOUND:5585"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28364", "medic_mention_id": "MEDICNE:9bcdfeac-2931-5aa3-9d82-0243f9a8b8e6", "medic_reliability": "EXCLUDED", "name": "all-cis-5,8,11,14,17-icosapentaenoic acid", "provided_by": ["infores:medic"], "synonym": ["Epa"], "xref": ["UNII:AAN7QOV9EA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28445", "medic_application_numbers": ["014103|070411|070867|070873|071426|071484|071559|071560|071561|075493|076296|076401|202497"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["L01CA02"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:29010456-cd79-59ef-a6e6-a24a68deee12", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003309"], "medic_reliability": "HIGH", "medic_smiles": "CCC1(O)CC2CN(CCc3c([nH]c4ccccc34)[C@@](C(=O)OC)(c3cc4c(cc3OC)N(C=O)C3[C@]45CCN4CC=C[C@@](CC)([C@@H](OC(C)=O)[C@]3(O)C(=O)OC)[C@H]45)C2)C1.O=S(=O)(O)O", "name": "vincristine", "provided_by": ["infores:medic"], "synonym": ["VINCRISTINE SULFATE", "Vincristine"], "xref": ["CHEMBL.COMPOUND:CHEMBL90555", "DRUGBANK:DB00541", "DrugCentral:2825", "PHAROS:7L1XDD9J5DDK", "PUBCHEM.COMPOUND:5978", "UNII:5J49Q6B70F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28487", "medic_application_numbers": ["009115|009357|009376|009391|009434|009453|009627|009631|009645|009663|009667|009838|009859|010012|010124|010441|011185|080393|080446|080457|080492|080525|080582|080637|080679|080721|080723|080749|080753|080975|083058|083145|084663|084974|085207|085401|085775|086117|089019|089020"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C02AA02", "C02AA52"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:80beacfd-1e0f-503c-934f-c60cd60361b1", "medic_reliability": "HIGH", "medic_smiles": "COC(=O)[C@H]1[C@H]2C[C@@H]3c4[nH]c5cc(OC)ccc5c4CCN3C[C@H]2C[C@@H](OC(=O)c2cc(OC)c(OC)c(OC)c2)[C@@H]1OC", "name": "reserpine", "provided_by": ["infores:medic"], "synonym": ["RESERPINE", "RESERPINE; TRICHLORMETHIAZIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL772", "DrugCentral:2370", "GTOPDB:4823", "PHAROS:39UGF3U8RS3T", "PUBCHEM.COMPOUND:5770", "UNII:8B1QWR724A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28502", "medic_application_numbers": ["006403"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19850222", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:47c4a73b-a61e-51c0-81f6-ec3ddc264fa9", "medic_reliability": "HIGH", "name": "tolazoline", "provided_by": ["infores:medic"], "synonym": ["TOLAZOLINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL770", "DrugCentral:2695", "GTOPDB:7310", "PHAROS:9X64UPW5K3FF", "PUBCHEM.COMPOUND:5504", "UNII:CHH9H12AQ3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28527", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C05CA01", "C05CA51"], "medic_earliest_approval_date": "19731130", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:c9c9c159-52f0-5c8d-bbe7-2fb4d2cd1050", "medic_registration_numbers": ["MOH_RUSSIA:73/941/32"], "medic_reliability": "MEDIUM", "medic_smiles": "C[C@@H]1O[C@@H](OC[C@H]2O[C@@H](Oc3c(-c4ccc(O)c(O)c4)oc4cc(O)cc(O)c4c3=O)[C@H](O)[C@@H](O)[C@@H]2O)[C@H](O)[C@H](O)[C@H]1O", "name": "rutin", "provided_by": ["infores:medic"], "synonym": ["Rutoside", "Рутозид"], "xref": ["CHEMBL.COMPOUND:CHEMBL226335", "PHAROS:FS8WJFJZKT29", "PUBCHEM.COMPOUND:5280805"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28544", "medic_application_numbers": ["084100"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C01AA04"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d85cbb75-986d-5a40-b7cc-2da5c89d9e0c", "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1O[C@@H](O[C@H]2[C@@H](O)C[C@H](O[C@H]3[C@@H](O)C[C@H](O[C@H]4CC[C@@]5(C)[C@H](CC[C@@H]6[C@@H]5CC[C@]5(C)[C@@H](C7=CC(=O)OC7)CC[C@]65O)C4)O[C@@H]3C)O[C@@H]2C)C[C@H](O)[C@@H]1O", "name": "digitoxin", "provided_by": ["infores:medic"], "synonym": ["DIGITOXIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL254219", "DrugCentral:881", "PHAROS:752R5PNZNNG4", "PUBCHEM.COMPOUND:441207", "UNII:E90NZP2L9U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28548", "medic_mention_id": "MEDICNE:9daa4c67-6bff-5290-bbc1-e07788e16a36", "medic_reliability": "EXCLUDED", "name": "D-pinitol", "provided_by": ["infores:medic"], "synonym": ["D-pinitol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28568", "medic_application_numbers": ["009102|009452|017796|080671|080774|080874|080963|080992"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:14f2f49d-305b-558d-b5bf-77691d164c6e", "medic_reliability": "HIGH", "name": "piperazine", "provided_by": ["infores:medic"], "synonym": ["PIPERAZINE CITRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28569", "medic_application_numbers": ["011642"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5a5184c9-8539-5428-b9d0-48a6d9d70c08", "medic_reliability": "HIGH", "name": "quinidine polygalacturonate", "provided_by": ["infores:medic"], "synonym": ["QUINIDINE POLYGALACTURONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28572", "medic_application_numbers": ["010686|084736"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C02AA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a3a3e561-0c83-588d-8df4-5e010d1535a5", "medic_reliability": "HIGH", "medic_smiles": "COC(=O)[C@H]1[C@H]2C[C@@H]3c4[nH]c5cc(OC)ccc5c4CCN3C[C@H]2C[C@@H](OC(=O)/C=C/c2cc(OC)c(OC)c(OC)c2)[C@@H]1OC", "name": "rescinnamine", "provided_by": ["infores:medic"], "synonym": ["RESCINNAMINE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1668", "DrugCentral:2369", "PHAROS:R8KGHM9F1QH4", "PUBCHEM.COMPOUND:5280954", "UNII:Q6W1F7DJ2D"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28593", "medic_application_numbers": ["012796|040045|081029|081030|081031|083288|083347|083393|083439|083576|083583|083622|083640|083743|083808|083862|083879|083963|084003|084177|084549|084627|084631|084914|084932|085038|085068|085103|085140|085175|085222|085276|085296|085297|085298|085299|085322|085444|085583|085584|085632|086176|087011|087837|087909|088072|088973|089839"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3573b7a2-6c4d-5110-a7e9-3cfdb607aea3", "medic_reliability": "HIGH", "name": "quinidine", "provided_by": ["infores:medic"], "synonym": ["QUINIDINE GLUCONATE", "QUINIDINE SULFATE", "Quinidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1294", "DRUGBANK:DB00908", "DrugCentral:2346", "GTOPDB:2342", "PHAROS:TTP6PN9UM1K1", "PUBCHEM.COMPOUND:441074", "UNII:ITX08688JL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28661", "medic_mention_id": "MEDICNE:d4a2dec5-d04f-55e8-9396-acbfb6e2cd44", "medic_reliability": "EXCLUDED", "name": "gamma-linolenic acid", "provided_by": ["infores:medic"], "synonym": ["Gamma-linolenic acid"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28669", "medic_application_numbers": ["050167|061229|062430|062849|064028|064046|065022"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0b2416f4-e64a-5ee9-9a26-af659f204143", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006253"], "medic_reliability": "HIGH", "name": "bacitracin", "provided_by": ["infores:medic"], "synonym": ["BACITRACIN", "BACITRACIN ZINC", "BACITRACIN ZINC; HYDROCORTISONE ACETATE; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN ZINC; HYDROCORTISONE; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN ZINC; LIDOCAINE; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN ZINC; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN ZINC; POLYMYXIN B SULFATE", "BACITRACIN; HYDROCORTISONE ACETATE; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "BACITRACIN; POLYMYXIN B SULFATE", "Bacitracin", "Bacitracin+Neomycin"], "xref": ["DRUGBANK:DB00626", "UNII:58H6RWO52I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28674", "medic_mention_id": "MEDICNE:9b8dda52-6d41-5661-9488-39ebe3bb8dae", "medic_reliability": "EXCLUDED", "medic_smiles": "Cl.c1ccc2c(c1)CCCC2C1=NCCN1", "name": "tetryzoline", "provided_by": ["infores:medic"], "synonym": ["Tetryzoline"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200413", "DRUGBANK:DB06764", "DrugCentral:3591", "PHAROS:89MZKKT49QRT", "PUBCHEM.COMPOUND:657258", "UNII:S9U025Y077"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28680", "medic_application_numbers": ["016793|021041|071471|071472|071868|072168|072945|074245|075206|075383|076512|200914|200915|200916|201784|205696|206189|206190|208485|211937|211938"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["L01BC01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:459ab8ec-b564-542a-a5da-1dbb6cb5febe", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008336"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ccn([C@@H]2O[C@H](CO)[C@@H](O)[C@@H]2O)c(=O)n1", "name": "cytarabine", "provided_by": ["infores:medic"], "synonym": ["CYTARABINE", "CYTARABINE; DAUNORUBICIN", "Cytarabine", "Cytarabine for Injection", "Injectable Cytarabine"], "xref": ["CHEMBL.COMPOUND:CHEMBL803", "DRUGBANK:DB00987", "DrugCentral:770", "PHAROS:AGMYQ3854DM7", "PUBCHEM.COMPOUND:6253", "UNII:04079A1RDZ"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:28685", "medic_stub": true, "name": "molybdenum atom", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28689", "medic_application_numbers": ["208470"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A14AA07", "G03XX01"], "medic_earliest_approval_date": "20160907", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ae6010ee-b9fe-55bf-bde6-3b2c8ba0df09", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001499"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@H](O)CC1=CC[C@@H]1[C@@H]2CC[C@]2(C)C(=O)CC[C@@H]12", "name": "dehydroepiandrosterone", "provided_by": ["infores:medic"], "synonym": ["Dehydroepiandrosterone", "PRASTERONE", "Prasterone"], "xref": ["CHEMBL.COMPOUND:CHEMBL90593", "DRUGBANK:DB01708", "DrugCentral:795", "PHAROS:FS54HD2ZRCVL", "PUBCHEM.COMPOUND:5881", "UNII:459AG36T1B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28741", "medic_application_numbers": ["020231"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["V09IX06"], "medic_earliest_approval_date": "19970711", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:aadaae32-1241-5094-a4b3-c7f44bd494e8", "medic_registration_numbers": ["MOH_RUSSIA:П N016088/01"], "medic_reliability": "HIGH", "medic_smiles": "[18F-].[Na+]", "name": "sodium fluoride", "provided_by": ["infores:medic"], "synonym": ["SODIUM FLUORIDE", "SODIUM FLUORIDE; TRICLOSAN", "Sodium Fluoride [18F] Injection", "Sodium fluoride", "Натрия фторид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28748", "medic_application_numbers": ["050467|050629|050718|062921|062926|062975|063097|063165|063277|063336|064097|064140|065515|091418|091495|200146|200170|200901|203263|203622|206062|207228|208657|208888|209825|212219|212299|215178|219199|219881"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fbacd63b-11f5-5b64-87a6-05978e73be68", "medic_registration_numbers": ["MOH_RUSSIA:88/314/1"], "medic_reliability": "HIGH", "medic_smiles": "COc1cccc2c1C(=O)c1c(O)c3c(c(O)c1C2=O)C[C@@](O)(C(=O)CO)C[C@@H]3O[C@H]1C[C@H](N)[C@H](O)[C@H](C)O1.Cl", "name": "doxorubicin", "provided_by": ["infores:medic"], "synonym": ["DOXORUBICIN HYDROCHLORIDE", "Doxorubicin", "Doxorubicin Hcl 10mg/Vial", "Doxorubicin Hydrochloride", "doxorubicin"], "xref": ["CHEMBL.COMPOUND:CHEMBL53463,CHEMBL359744", "DRUGBANK:DB00997", "DrugCentral:960", "GTOPDB:7069", "PHAROS:FA7PVTGAWGXF", "PUBCHEM.COMPOUND:31703,443939", "UNII:80168379AG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28757", "medic_mention_id": "MEDICNE:50b2c31c-6af5-51d5-81fe-510e44219c3e", "medic_reliability": "EXCLUDED", "name": "fructose", "provided_by": ["infores:medic"], "synonym": ["Fructose"], "xref": ["DRUGBANK:DB04173"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2877", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:233cb744-fe54-5d3a-bbb8-4068fd7fbb2a", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002461"], "medic_reliability": "LOW", "name": "aspartame", "provided_by": ["infores:medic"], "synonym": ["Asparkam", "Аспаркам"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28775", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:9ad42bce-d461-5b1f-ab78-ecdfcc88a893", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003561"], "medic_reliability": "MEDIUM", "medic_smiles": "COc1ccc([C@@H]2CC(=O)c3c(O)cc(O[C@@H]4O[C@H](CO[C@@H]5O[C@@H](C)[C@H](O)[C@@H](O)[C@H]5O)[C@@H](O)[C@H](O)[C@H]4O)cc3O2)cc1O", "name": "hesperidin", "provided_by": ["infores:medic"], "synonym": ["Hesperidin", "Hesperidin + Diosmin", "Гесперидин+Диосмин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28787", "medic_application_numbers": ["018531|018537|018588|018621|018672|018705|018774|019970|020144|020145|021134|021359|021780|070026|070077|070633|070634|070863|070871|070872|071159|071203|071492|071846|071847|071848|072034|074083|074559|074992|075115|087355|089771|089772|089773|089774|089884|089885|089886|091496|203693|206391|207745|208191|208424|209779|210153|211604|212222|216103|216452|217879|217970|218235|218583|218756"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["C01DA02", "C01DA52", "C05AE01"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6d9cbff5-dc9c-573f-8af5-b3b893ffefa0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000236"], "medic_reliability": "HIGH", "medic_smiles": "O=[N+]([O-])OCC(CO[N+](=O)[O-])O[N+](=O)[O-]", "name": "nitroglycerin", "provided_by": ["infores:medic"], "synonym": ["NITROGLYCERIN", "Nitroglycerin", "Nitroglycerin 25mg/50mg Patch", "Nitroglycerin Tablets", "Nitroglycerine 2.6mg Sustained Release Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL730", "DRUGBANK:DB00727", "DrugCentral:1952", "PHAROS:8JZKV6G7YNVM", "PUBCHEM.COMPOUND:4510", "UNII:G59M7S0WS3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28790", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060811", "medic_mention_id": "MEDICNE:60bb1735-fc13-5b86-a5e8-94e55614a5d7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005603"], "medic_reliability": "MEDIUM", "medic_smiles": "NCCc1c[nH]c2ccc(O)cc12", "name": "serotonin", "provided_by": ["infores:medic"], "synonym": ["Serotonin", "Серотонин"], "xref": ["CHEMBL.COMPOUND:CHEMBL39,CHEMBL535832", "GTOPDB:5", "PHAROS:MNAP8MWU6R2P", "PUBCHEM.COMPOUND:5202,160436"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28794", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19910101", "medic_mention_id": "MEDICNE:95eee6c5-1627-53e4-9cc1-c261114f7664", "medic_reliability": "MEDIUM", "medic_smiles": "O=c1ccc2ccccc2o1", "name": "coumarin", "provided_by": ["infores:medic"], "synonym": ["Coumarin Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28830", "medic_application_numbers": ["010669"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["L01AA02"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1c756444-d76f-566b-9c23-bf27d9869624", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000525)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CCCc1ccc(N(CCCl)CCCl)cc1", "name": "chlorambucil", "provided_by": ["infores:medic"], "synonym": ["CHLORAMBUCIL", "Chlorambucil"], "xref": ["DRUGBANK:DB00291", "UNII:18D0SL7309"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28831", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D08AX03", "D08AX53"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:0a886da1-28f5-5200-a90a-caebe8c3c6df", "medic_reliability": "MEDIUM", "medic_smiles": "CCCO", "name": "propan-1-ol", "provided_by": ["infores:medic"], "synonym": ["Propanol 50gm+povidone iodine-1gm in 100ml solution"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28834", "medic_application_numbers": ["206333|212296"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "20150429", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:08660d85-18c8-5818-835a-82a3993769a8", "medic_reliability": "HIGH", "name": "deoxycholic acid", "provided_by": ["infores:medic"], "synonym": ["DEOXYCHOLIC ACID", "Deoxycholic Acid Injection"], "xref": ["GTOPDB:610", "PHAROS:DDURZQSDALL3", "PUBCHEM.COMPOUND:222528"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28837", "medic_mention_id": "MEDICNE:d501eb5a-4780-567f-be8d-911e6e74056f", "medic_reliability": "EXCLUDED", "name": "octanoic acid", "provided_by": ["infores:medic"], "synonym": ["Caprylic acid"], "xref": ["DRUGBANK:DB04519"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:28838", "medic_stub": true, "name": "lutein", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28864", "medic_application_numbers": ["050477|050519|050789|062008|062707|062945|063080|063081|063100|063111|063112|063113|063116|063117|063118|063119|063120|063121|063122|063127|063128|063161|064021|064026|065013|065120|065122|065407|205179|205685|206965|209346|209621|211189|217029|217519"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["J01GB01", "S01AA12"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2bcb2fb3-3c88-5783-84d9-d844cc536c99", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000202"], "medic_reliability": "HIGH", "medic_smiles": "NC[C@H]1O[C@H](O[C@H]2[C@H](O)[C@@H](O[C@H]3O[C@H](CO)[C@@H](O)[C@H](N)[C@H]3O)[C@H](N)C[C@@H]2N)[C@H](N)C[C@@H]1O.O=S(=O)(O)O", "name": "tobramycin", "provided_by": ["infores:medic"], "synonym": ["Loteprenol + Tobramycin", "TOBRAMYCIN", "TOBRAMYCIN SULFATE", "Tobramycin", "Tobramycin Eye Drops", "tobramycin"], "xref": ["DRUGBANK:DB00684", "UNII:VZ8RRZ51VK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28865", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20060725", "medic_mention_id": "MEDICNE:d93e747c-7ad7-50d3-91bf-e41a9edf9fc5", "medic_reliability": "MEDIUM", "name": "taurocholic acid", "provided_by": ["infores:medic"], "synonym": ["Taurocholic Acid Capsules", "牛磺熊去氧胆酸胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28869", "medic_application_numbers": ["002139"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f54722c4-bd81-5522-8b47-864d1387d70c", "medic_reliability": "HIGH", "medic_smiles": "CC1(S(=O)(=O)O)CC(=O)c2ccccc2C1=O", "name": "menadione", "provided_by": ["infores:medic"], "synonym": ["MENADIONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL590", "DrugCentral:1683", "PHAROS:WVQKKNPRLQ3J", "PUBCHEM.COMPOUND:4055", "UNII:723JX6CXY5"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28875", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20230626", "medic_mention_id": "MEDICNE:9d01cde1-a4fe-5ee2-8170-f6590f737200", "medic_reliability": "HIGH", "name": "tetradecanoic acid", "provided_by": ["infores:medic"], "synonym": ["14"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28876", "medic_application_numbers": ["020207|090270|090299|090303|201379|201848|203393|203655|204773|204817|206018|206523|207032|207155|209197|209323|209826|210947|211463|212960|215024|217110"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:38ef29f6-04a4-5ffc-911b-74c5b6e58759", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004759"], "medic_reliability": "HIGH", "medic_smiles": "Cl.N[C@@H](Cc1ccc(N(CCCl)CCCl)cc1)C(=O)O", "name": "melphalan", "provided_by": ["infores:medic"], "synonym": ["MELPHALAN", "MELPHALAN HYDROCHLORIDE", "Melphalan", "melphalan"], "xref": ["DRUGBANK:DB01042", "UNII:Q41OR9510P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28901", "medic_application_numbers": ["009386|020954|202259|205106|205139|205184|205672|207050|207794|208536|209580|210148|210448|210931|212127|215102|215235"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01AB01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b91c562b-92ad-5a38-ab34-e942ff939391", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005408"], "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)OCCCCOS(C)(=O)=O", "name": "busulfan", "provided_by": ["infores:medic"], "synonym": ["BUSULFAN", "Busulfan", "busulfan"], "xref": ["DRUGBANK:DB01008", "UNII:G1LN9045DK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28908", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:09d95428-da2d-51df-aa84-4632de3fc925", "medic_reliability": "MEDIUM", "name": "bambermycin", "provided_by": ["infores:medic"], "synonym": ["Flavophospholipol (Flavomycin)(For Veterinary)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28915", "medic_application_numbers": ["212271"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "20061229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:79657e55-e70f-5433-9533-857e058fd1ec", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003099"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1O[C@@H]1P(=O)(O)O.NC(CO)(CO)CO", "name": "fosfomycin", "provided_by": ["infores:medic"], "synonym": ["FOSFOMYCIN DISODIUM", "Fosfomycin", "Fosfomycin and Ambutrol Powder", "Phosphomycin", "磷霉素氨丁三醇散"], "xref": ["DRUGBANK:DB00828", "UNII:2N81MY12TE"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:28918", "medic_application_numbers": ["010374|016126|218475"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:73916b0c-f518-5cdd-9911-eed6bcc30d75", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004465"], "medic_reliability": "HIGH", "medic_smiles": "CNC[C@H](O)c1ccc(O)c(O)c1.O=C(O)[C@H](O)[C@@H](O)C(=O)O", "name": "(R)-adrenaline", "provided_by": ["infores:medic"], "synonym": ["EPINEPHRINE", "EPINEPHRINE BITARTRATE", "EPINEPHRINE BITARTRATE; ETIDOCAINE HYDROCHLORIDE", "EPINEPHRINE BITARTRATE; LIDOCAINE HYDROCHLORIDE", "EPINEPHRINE BITARTRATE; PRILOCAINE HYDROCHLORIDE", "Epinephrine", "epinephrine"], "xref": ["CHEMBL.COMPOUND:CHEMBL679", "DRUGBANK:DB00668", "DrugCentral:1028", "GTOPDB:479", "PHAROS:YGMZR3UB1NMG", "PUBCHEM.COMPOUND:5816", "UNII:YKH834O4BH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28925", "medic_application_numbers": ["006695|202317"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0b4cc078-5253-5240-bd30-3dc31d8f886c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005427)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "mechlorethamine", "provided_by": ["infores:medic"], "synonym": ["Chlormethine", "MECHLORETHAMINE HYDROCHLORIDE", "Mechlorethamine", "chlormethine"], "xref": ["DRUGBANK:DB00888"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28934", "medic_application_numbers": ["003444|040833|040865|080704|080747|080825|080884|080951|080956|083102|084053|090455|091004|204276"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A11CC01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:80ed3ad9-001e-55e3-bc49-494a9ca40e0d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000370"], "medic_reliability": "HIGH", "medic_smiles": "C=C1CC[C@H](O)C/C1=C/C=C1\\CCC[C@]2(C)[C@@H]([C@H](C)/C=C/[C@H](C)C(C)C)CC[C@@H]12", "name": "vitamin D2", "provided_by": ["infores:medic"], "synonym": ["ERGOCALCIFEROL", "Ergocalciferol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1536", "DrugCentral:2838", "PHAROS:6K4VWBXB6WH2", "PUBCHEM.COMPOUND:5280793", "UNII:VS041H42XC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28939", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R05CB01", "S01XA08", "V03AB23"], "medic_earliest_approval_date": "20070817", "medic_mention_id": "MEDICNE:de9005f7-e872-5771-9834-62978d9320d4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000623"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N[C@@H](CS)C(=O)O", "name": "N-acetyl-L-cysteine", "provided_by": ["infores:medic"], "synonym": ["Acetylcysteine", "Acetylcysteine + Tuaminoheptane"], "xref": ["DRUGBANK:DB06151"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28940", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:19efeb77-4966-58c9-bf7b-ee15167818e3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003990"], "medic_reliability": "HIGH", "name": "calciol", "provided_by": ["infores:medic"], "synonym": ["CHOLECALCIFEROL", "Cholecalciferol", "Vitamin D3 (Cholecalciferol) Orally disintegrating strips 2000 IU (additional Dosage form)"], "xref": ["DRUGBANK:DB00169", "UNII:1C6V77QF41"]}
{"category": ["biolink:Drug"], "id": "CHEBI:28946", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:8fdc34ff-2158-5d1b-ad3e-a12d12d80893", "medic_registration_numbers": ["MOH_RUSSIA:64/228/250"], "medic_reliability": "MEDIUM", "name": "theobromine", "provided_by": ["infores:medic"], "synonym": ["Theobromine", "Теобромин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2896", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["R06AX11"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:d25d708f-e766-53f1-858e-20261903e818", "medic_reliability": "MEDIUM", "medic_smiles": "COc1ccc(CCN2CCC(Nc3nc4ccccc4n3Cc3ccc(F)cc3)CC2)cc1", "name": "astemizole", "provided_by": ["infores:medic"], "synonym": ["Astemizole 5mg/5ml Suspension"], "xref": ["CHEMBL.COMPOUND:CHEMBL296419", "DrugCentral:249", "GTOPDB:2603", "PHAROS:6C6P2LAYLAUN", "PUBCHEM.COMPOUND:2247", "UNII:7HU6337315"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:28971", "medic_application_numbers": ["050019|050056|050093|050308|050310|060060|060127|060624|060625|060666|060765|060908|061370|061387|061392|061394|061502|061601|061602|061755|061829|061853|061980|062030|062041|062049|062050|062151|062157|062208|062212|062223|062297|062882|062883|062888|062982|064082|216554"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6b6d368f-1681-5992-bd75-26e0b6333a73", "medic_registration_numbers": ["MOH_RUSSIA:68/837/3"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](N)c3ccccc3)C(=O)N2[C@H]1C(=O)[O-].[Na+]", "name": "ampicillin", "provided_by": ["infores:medic"], "synonym": ["AMPICILLIN SODIUM", "AMPICILLIN SODIUM; SULBACTAM SODIUM", "AMPICILLIN/AMPICILLIN TRIHYDRATE", "AMPICILLIN/AMPICILLIN TRIHYDRATE; PROBENECID", "Ampicillin", "Ampicillin + Oxacillin", "Ampicillin Sodium and Sulbactam Sodium for Injection", "Ampicillin+[Sulbactam]", "注射用氨苄西林钠舒巴坦钠"], "xref": ["DRUGBANK:DB00415", "UNII:7C782967RD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:29007", "medic_application_numbers": ["050585|050624|050796|062510|062654|063239|065125|065168|065169|065180|065204|065224|065227|065230|065231|065232|065245|065252|065262|065263|065268|065269|065274|065294|065305|065328|065329|065342|065391|065465|065475|065504|065505|090057|090701|091049|091068|091117|202563|203702|209218|210197"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19841221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:18af75e4-a2f7-50f0-a610-73e03a8eaa45", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000047"], "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(CSc3nc(=O)c([O-])nn3C)CSC12)c1csc(N)n1.[Na+].[Na+]", "name": "ceftriaxone", "provided_by": ["infores:medic"], "synonym": ["CEFTRIAXONE SODIUM", "CEFTRIAXONE SODIUM; LIDOCAINE", "Ceftriaxone", "Ceftriaxone (As sodium) 125mg/250mg + Sulbactam (As sodium) 62.5mg/125mg For injection (additional strength)", "Ceftriaxone + Sulbactam injection (Additional Indication)", "Ceftriaxone + [Sulbactam]", "Ceftriaxone –2gm+ Tazobactum 250mg for injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL161", "DRUGBANK:DB01212", "DrugCentral:564", "PHAROS:D2GX56N53RW3", "PUBCHEM.COMPOUND:5479530", "UNII:75J73V1629"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29013", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["D06AX01", "D09AA02", "J01XC01", "S01AA13"], "medic_earliest_approval_date": "19920303", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:5960ecca-5c36-5463-b6c4-32b9840e749b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000626"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O[C@H]1C[C@@]2(C)[C@@H](C[C@@H](O)[C@H]3[C@@]4(C)CC[C@@H](O)[C@@H](C)[C@@H]4CC[C@@]32C)/C1=C(\\CCC=C(C)C)C(=O)O", "name": "fusidic acid", "provided_by": ["infores:medic"], "synonym": ["Fusidic Acid BP 10mg/gm Eye Drops", "Fusidic Acid Ointment", "Fusidic acid", "Halometasone monohydrate 0.05% w/w + Fusidic acid 2.00% w/w cream", "Hydrocortisone + Fusidic Acid"], "xref": ["DRUGBANK:DB02703"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:29016", "medic_application_numbers": ["016931"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:525d2b40-2acf-56b0-ad71-eb6054207c56", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-002110/09"], "medic_reliability": "HIGH", "name": "arginine", "provided_by": ["infores:medic"], "synonym": ["ARGININE HYDROCHLORIDE", "Arginine", "arginine;lysine"], "xref": ["DRUGBANK:DB00125", "UNII:94ZLA3W45F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2904", "medic_application_numbers": ["018240|019058|072304|073026|073315|073316|073317|073318|073352|073353|073457|073475|073476|073542|073543|073676|074056|074099|074101|074120|074126|074127|074265|074499|076900|076907|077443|077877|078210|078254|078512|213136"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["C07AB03"], "medic_earliest_approval_date": "19810101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c67fd6d0-1237-571a-b3d8-7c006c601d14", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002294"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)NCC(O)COc1ccc(CC(N)=O)cc1", "name": "atenolol", "provided_by": ["infores:medic"], "synonym": ["ATENOLOL", "ATENOLOL; CHLORTHALIDONE", "Atenolol", "Atenolol (Bulk)", "Atenolol + Chlorthalidone", "Atenolol 25mg/50mg + Indapamide SR 1.5mg", "Atenolol Injection", "Atenolol Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL24", "DRUGBANK:DB00335", "DrugCentral:255", "PHAROS:MSS9M2PUN1DT", "PUBCHEM.COMPOUND:2249", "UNII:50VV3VW0TI"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:29101", "medic_stub": true, "name": "sodium(1+)", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:29103", "medic_stub": true, "name": "potassium(1+)", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:29231", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:d2454fb4-9dd9-5f86-8920-5a955e638d1c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000533"], "medic_reliability": "LOW", "name": "hypoiodous acid", "provided_by": ["infores:medic"], "synonym": ["Iodinol", "Йодинол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:29321", "medic_application_numbers": ["017546|018450|018581|070031|070566|071555|071961|073465|207426|207499|208635|208923|209352|209387|209493|209584|209832|209834|210114|210467|210763|210855|210882|211016|211277|211934|214199|214971|215846"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:53c8a200-907c-57b9-9172-56678fd07fe0", "medic_registration_numbers": ["MOH_RUSSIA:П N012724/01"], "medic_reliability": "HIGH", "name": "sodium nitroprusside", "provided_by": ["infores:medic"], "synonym": ["SODIUM NITROPRUSSIDE", "Sodium Nitroprusside Injection", "Sodium Nitroprusside USP 50mg/Vial Injection", "Sodium nitroprusside dihydrate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2946", "medic_application_numbers": ["018506"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["R06AX09"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c568748c-2193-5123-82a1-91b429250d5e", "medic_reliability": "HIGH", "medic_smiles": "CN1CCC(=C2c3ccccc3CCc3cccnc32)CC1", "name": "azatadine", "provided_by": ["infores:medic"], "synonym": ["AZATADINE MALEATE", "AZATADINE MALEATE; PSEUDOEPHEDRINE SULFATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL946", "DrugCentral:268", "PHAROS:WKK4BUJ6BC8R", "PUBCHEM.COMPOUND:19861", "UNII:94Z39NID6C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2947", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:8b5442d0-d9f3-5060-9599-2c4931cc1eeb", "medic_reliability": "MEDIUM", "medic_smiles": "CN1CCC(=C2c3ccccc3CCc3cccnc32)CC1.O=C(O)/C=C\\C(=O)O.O=C(O)/C=C\\C(=O)O", "name": "azatadine maleate", "provided_by": ["infores:medic"], "synonym": ["Azatadine Maleate 1mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2948", "medic_application_numbers": ["017391|074419"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b94e55d7-5a5c-5e85-82d1-dc20b2af04ad", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007806"], "medic_reliability": "HIGH", "medic_smiles": "Cn1cnc([N+](=O)[O-])c1Sc1ncnc2nc[n-]c12.[Na+]", "name": "azathioprine", "provided_by": ["infores:medic"], "synonym": ["AZATHIOPRINE", "AZATHIOPRINE SODIUM", "Azathioprine", "Azathioprine 25mg Tablets", "Azathioprine 50mg/100mg Tablet", "azathioprine"], "xref": ["DRUGBANK:DB00993", "UNII:MRK240IY2L"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:2950", "medic_application_numbers": ["020114|021127|022203|077954|078621|078738|090176|090423|091409|091444|201846|202305|202609|202743|203660|204660|207243|207411|207610|208156|208199|209620|210032|210092|212289|212775|213872|216421|216561|216576|216801"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19961101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:3bf836df-2df7-5039-8f2c-1cdd945ea386", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003328"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCCC(n2nc(Cc3ccc(Cl)cc3)c3ccccc3c2=O)CC1.Cl", "name": "azelastine", "provided_by": ["infores:medic"], "synonym": ["AZELASTINE HYDROCHLORIDE", "AZELASTINE HYDROCHLORIDE; FLUTICASONE PROPIONATE", "Azelastine", "Azelastine + Fluticasone", "Azelastine + Mometasone", "Azelastine 0.5mg/ml Eye Drops"], "xref": ["CHEMBL.COMPOUND:CHEMBL639", "DRUGBANK:DB00972", "DrugCentral:271", "GTOPDB:7121", "PHAROS:VKY49BVV56A6", "PUBCHEM.COMPOUND:2267", "UNII:ZQI909440X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2951", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19970715", "medic_mention_id": "MEDICNE:2cb85773-80f4-5987-9a14-56d807133632", "medic_reliability": "MEDIUM", "name": "azelastine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Azelastine Hcl 0.01gm/10ml Nasal Spray"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2955", "medic_application_numbers": ["050670|050693|050710|050711|050730|050733|050784|050797|050809|050810|065150|065153|065179|065193|065209|065211|065212|065218|065223|065225|065246|065265|065297|065302|065360|065365|065366|065398|065399|065400|065404|065405|065419|065488|065500|065501|065506|065507|065508|065509|065511|090923|203294|203412|204732|205666|207370|207398|207531|207566|208249|208250|209043|209044|209045|209201|209999|210000|210001|211068|211147|211317|211318|211521|211791|211792|211793|213056|213275|215772|215773|217036"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19911101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6de89354-1df8-5dc0-ba14-db91c214872a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000268"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@H]1OC(=O)[C@H](C)[C@@H](O[C@H]2C[C@@](C)(OC)[C@@H](O)[C@H](C)O2)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@H](N(C)C)[C@H]2O)[C@](C)(O)C[C@@H](C)CN(C)[C@H](C)[C@@H](O)[C@]1(C)O.O", "name": "azithromycin", "provided_by": ["infores:medic"], "synonym": ["AZITHROMYCIN", "AZITHROMYCIN DIHYDRATE; TROVAFLOXACIN MESYLATE", "AZITHROMYCIN HYDRATE", "Azithromycin", "Azithromycin + Dexamethasone (10mg + 1mg) Eye Drops", "Azithromycin Capsules", "Azithromycin Granules", "Azithromycin SR Granules for oral suspension 2000mg", "Azithromycin Tablet 250mg/500mg", "Azithromycin Tablets", "Azithromycin eye drops 1%", "Azithromycin for Injection"], "xref": ["DRUGBANK:DB00207", "GTOPDB:6510", "PHAROS:334SJBYMYWM4", "PUBCHEM.COMPOUND:447043", "UNII:J2KLZ20U1M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2956", "medic_application_numbers": ["050562|062388|062417"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01CA09"], "medic_earliest_approval_date": "19820903", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:89f44bf9-6ffc-5b90-9751-52a4726b65b8", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](NC(=O)N3CCNC3=O)c3ccccc3)C(=O)N2[C@H]1C(=O)O", "name": "azlocillin", "provided_by": ["infores:medic"], "synonym": ["AZLOCILLIN SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29670", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20230417", "medic_mention_id": "MEDICNE:1709853f-4e67-5654-b299-bf19aa542fd9", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002344"], "medic_reliability": "MEDIUM", "name": "Ramoplanin", "provided_by": ["infores:medic"], "synonym": ["Ramoplanin", "Рамопланин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29671", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080424", "medic_mention_id": "MEDICNE:4dc01c9e-6379-52f0-99cf-1371dfa0be05", "medic_registration_numbers": ["MOH_RUSSIA:Р N001709/01-2002"], "medic_reliability": "MEDIUM", "name": "Resistomycin", "provided_by": ["infores:medic"], "synonym": ["HelioMycin", "Гелиомицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29673", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081215", "medic_mention_id": "MEDICNE:04a88bc9-5d67-5361-a4dd-ee62f5741e8f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000935)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "rifamycin SV", "provided_by": ["infores:medic"], "synonym": ["Rifamycin"], "xref": ["CHEMBL.COMPOUND:CHEMBL437765", "DRUGBANK:DB11753", "GTOPDB:4570", "PHAROS:LTASZC3RRL3M", "PUBCHEM.COMPOUND:6324616"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2968", "medic_application_numbers": ["050520|050556"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01CA06"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8941833a-f51e-5bc2-97ab-63d195a535b4", "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)OC(C)OC(=O)[C@@H]1N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccccc3)[C@H]2SC1(C)C", "name": "bacampicillin", "provided_by": ["infores:medic"], "synonym": ["BACAMPICILLIN HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29687", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01XA02"], "medic_earliest_approval_date": "20180326", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:3010ffb7-a482-551b-bb7c-82e80abbef93", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004752"], "medic_reliability": "HIGH", "name": "teicoplanin", "provided_by": ["infores:medic"], "synonym": ["Teicoplanin", "Teikoplanin"], "xref": ["DRUGBANK:DB06149"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29688", "medic_application_numbers": ["021144"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_atc_codes": ["J01FA15"], "medic_earliest_approval_date": "20040401", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:99bbd32a-6f44-54cf-84be-6c986ea7d5b8", "medic_reliability": "HIGH", "medic_smiles": "CC[C@H]1OC(=O)[C@H](C)C(=O)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@H](N(C)C)[C@H]2O)[C@](C)(OC)C[C@@H](C)C(=O)[C@H](C)[C@H]2N(CCCCn3cnc(-c4cccnc4)c3)C(=O)O[C@]12C", "name": "telithromycin", "provided_by": ["infores:medic"], "synonym": ["TELITHROMYCIN", "Telithromycin Tablets"], "xref": ["UNII:KI8H7H19WL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:2969", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:19208216-da58-5362-84f2-bf729a084a43", "medic_reliability": "MEDIUM", "medic_smiles": "CCOC(=O)OC(C)OC(=O)[C@@H]1N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccccc3)[C@H]2SC1(C)C.Cl", "name": "bacampicillin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bacampicillin Hcl 400mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:2972", "medic_application_numbers": ["017851|020075|021589|022462|071260|071261|072234|072235|072824|072825|073043|073044|073092|073093|074584|074698|077068|077088|077121|077181|077241|077862|077971|078401|090334|091193|208193|209102|209592|209594|210048|210315|210777|211555|211659|212067|212378|214099|214114|214374|214445|215422|215602|215885|216309|217252|217324|217687|217788"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:22289652-7765-56e9-b03f-07540f70916d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006494"], "medic_reliability": "HIGH", "name": "baclofen", "provided_by": ["infores:medic"], "synonym": ["BACLOFEN", "Baclofen", "Baclofen ER (GRS) Capsule 45mg/60mg (additional strength)", "Baclofen ER Capsule 10 mg/50 mg. (Additional Strength)", "Baclofen Tablets", "Baclofen USP 10mg/25mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL701", "DRUGBANK:DB00181", "DrugCentral:282", "PHAROS:USJMSKZ6V3XF", "PUBCHEM.COMPOUND:2284", "UNII:H789N3FKE8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:29806", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_mention_id": "MEDICNE:a9ddebca-74ec-5c11-87db-fc716ebad5b1", "medic_reliability": "HIGH", "name": "fumarate(2-)", "provided_by": ["infores:medic"], "synonym": ["FUMARATE", "Fumarate", "Fumarate bulk & 25 mg"], "xref": ["DRUGBANK:DB01677"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:29864", "medic_application_numbers": ["005620|013684|014738|016080|016269|016472|016704|016772|019603|020006|022368|080677|083051|086754|087409|087460|089239|089240|202049"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5850a3dd-abdd-5f98-8e4c-68b0005208d7", "medic_reliability": "HIGH", "name": "mannitol", "provided_by": ["infores:medic"], "synonym": ["MANNITOL", "MANNITOL; SORBITOL", "mannitol"], "xref": ["UNII:3OWL53L36A"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:29888", "medic_stub": true, "name": "diphosphoric acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3001", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A07EA07", "D07AC15", "R01AD01", "R03BA01"], "medic_earliest_approval_date": "20060526", "medic_features": ["STEROID"], "medic_mention_id": "MEDICNE:4805a4e4-a6ab-5a48-b4e9-8d196d8faf96", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001428"], "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)OCC(=O)[C@@]1(OC(=O)CC)[C@@H](C)C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(Cl)[C@@H](O)C[C@@]21C", "name": "beclomethasone", "provided_by": ["infores:medic"], "synonym": ["Beclomethasone", "Beclomethasone + Clotrimazole", "Beclomethasone + Clotrimazole + Lidocaine + Chloramphenicol", "Beclomethasone + Gentamicin + Clotrimazole", "Beclomethasone + Salbutamol"], "xref": ["DRUGBANK:DB00394", "UNII:KGZ1SLC28Z"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3002", "medic_application_numbers": ["017573|018153|018521|018584|020486|020911|202813|207921|213811"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:38d35a80-d5cd-5674-9a42-72847501740f", "medic_reliability": "HIGH", "name": "beclomethasone dipropionate", "provided_by": ["infores:medic"], "synonym": ["BECLOMETHASONE DIPROPIONATE", "BECLOMETHASONE DIPROPIONATE MONOHYDRATE", "Beclomethasone Dipropionate 0.025% Cream & Ointment"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200500", "DrugCentral:294", "GTOPDB:5894", "PHAROS:9RWX98A2WNUF", "PUBCHEM.COMPOUND:21700", "UNII:5B307S63B2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30089", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:eb9d1d54-1e6a-5861-9592-dfbf39fd3356", "medic_reliability": "LOW", "name": "acetate", "provided_by": ["infores:medic"], "synonym": ["Ethanolate Bulk & Tablets"], "xref": ["UNII:569DQM74SC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3011", "medic_application_numbers": ["019851|076118|076211|076267|076333|076344|076402|076430|076476|076820|077128|078212|078848"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19910625", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:58106ebc-6d2d-5275-b0b4-fcabe4525b2e", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CN1C(=O)[C@@H](N[C@@H](CCc2ccccc2)C(=O)O)CCc2ccccc21", "name": "benazepril", "provided_by": ["infores:medic"], "synonym": ["BENAZEPRIL HYDROCHLORIDE", "BENAZEPRIL HYDROCHLORIDE; HYDROCHLOROTHIAZIDE", "Benazepril", "Benazepril and Hydrochlorothiazide Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL838", "DRUGBANK:DB00542", "DrugCentral:299", "GTOPDB:6374", "PHAROS:ZFAJJB1KUW2L", "PUBCHEM.COMPOUND:40466887,5362124", "UNII:JRM708L703", "UNII:UDM7Q7QWP8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3012", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19960422", "medic_mention_id": "MEDICNE:e94e072c-1f5b-55dd-a0ad-3a9bb2f971c2", "medic_reliability": "MEDIUM", "name": "benazepril hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Benazepril Hcl 5mg/10mg/20mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3013", "medic_application_numbers": ["018647|077833|078688"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C03AA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b720d367-4072-5553-913a-d0ff849de6b3", "medic_reliability": "HIGH", "medic_smiles": "NS(=O)(=O)c1cc2c(cc1C(F)(F)F)NC(Cc1ccccc1)NS2(=O)=O", "name": "bendroflumethiazide", "provided_by": ["infores:medic"], "synonym": ["BENDROFLUMETHIAZIDE", "BENDROFLUMETHIAZIDE; NADOLOL", "Bendroflumethiazide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1684", "DRUGBANK:DB00436", "DrugCentral:305", "PHAROS:T2CQHRL7XP2T", "PUBCHEM.COMPOUND:2315", "UNII:5Q52X6ICJI"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30145", "medic_stub": true, "name": "lithium atom", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30150", "medic_stub": true, "name": "aluminium(1+)", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30217", "medic_stub": true, "name": "helium atom", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3032", "medic_application_numbers": ["011210|040587|040597|040627|040682|040795|040851|081297|091133|091310|202765|206948|210562|211518"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["R05DB01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7cd71de5-8605-5a90-9b58-8615f3a0b8e6", "medic_reliability": "HIGH", "medic_smiles": "CCCCNc1ccc(C(=O)OCCOCCOCCOCCOCCOCCOCCOCCOCCOC)cc1", "name": "benzonatate", "provided_by": ["infores:medic"], "synonym": ["BENZONATATE", "Benzonatate", "Benzonatate bulk and Benzonatate capsules 100mg"], "xref": ["DRUGBANK:DB00868", "UNII:5P4DHS6ENR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30347", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100115", "medic_mention_id": "MEDICNE:26a6d755-ae1f-5d96-bc3a-a3c65bedb158", "medic_registration_numbers": ["MOH_RUSSIA:Р N000107/01"], "medic_reliability": "MEDIUM", "name": "ethylenediamine", "provided_by": ["infores:medic"], "synonym": ["Ethylenediamine", "Этилендиамин"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30353", "medic_stub": true, "name": "isopropyl group", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30411", "medic_stub": true, "name": "cobalamin", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3044", "medic_application_numbers": ["012427|040578|040714|040747|040773|040845|090346|090473|090968|202061"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5e4f68a7-1b18-516d-81b0-5af1ce701af7", "medic_reliability": "HIGH", "name": "benzphetamine", "provided_by": ["infores:medic"], "synonym": ["BENZPHETAMINE HYDROCHLORIDE", "Benzphetamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL3545985", "DRUGBANK:DB00865", "DrugCentral:329", "PHAROS:3YK65VB2S2CN", "PUBCHEM.COMPOUND:5311017", "UNII:0M3S43XK27"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3047", "medic_application_numbers": ["012128|012489|016001|083206"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:760288a6-76a8-5b7e-8afc-18e9fe4f18fe", "medic_reliability": "HIGH", "medic_smiles": "NS(=O)(=O)c1cc2c(cc1Cl)N=C(CSCc1ccccc1)NS2(=O)=O", "name": "benzthiazide", "provided_by": ["infores:medic"], "synonym": ["BENZTHIAZIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201039", "DrugCentral:332", "PHAROS:YLB14BHPMTYJ", "PUBCHEM.COMPOUND:2343", "UNII:1TD8J48L61"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3048", "medic_mention_id": "MEDICNE:f3a42e3e-f44a-5928-b375-fdfe64885968", "medic_reliability": "EXCLUDED", "name": "benzatropine", "provided_by": ["infores:medic"], "synonym": ["Benztropine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201203", "DRUGBANK:DB00245", "DrugCentral:333", "GTOPDB:7601", "PHAROS:1GT44A3AKFB7", "PUBCHEM.COMPOUND:1201549", "UNII:1NHL2J4X8K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30496", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_atc_codes": ["V08DA05"], "medic_earliest_approval_date": "20010326", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:cf7f614f-c698-5abb-805c-b8b2fa64ead5", "medic_reliability": "MEDIUM", "medic_smiles": "FS(F)(F)(F)(F)F", "name": "sulfur hexafluoride", "provided_by": ["infores:medic"], "synonym": ["sulphur hexafluoride"], "xref": ["UNII:WS7LR3I1D6"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30563", "medic_stub": true, "name": "silicon dioxide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3061", "medic_application_numbers": ["019001|019002"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19901228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8ec8edea-b99e-5055-b597-7251f7fb4bec", "medic_reliability": "HIGH", "name": "bepridil", "provided_by": ["infores:medic"], "synonym": ["BEPRIDIL HYDROCHLORIDE", "BEPRIDIL HYDROCHLORIDE HYDRATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1008", "DrugCentral:342", "GTOPDB:2337", "PHAROS:S1UMSUMGTCRA", "PUBCHEM.COMPOUND:2351", "UNII:755BO701MA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30618", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090305", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:358c451b-f77d-5b37-a18a-04e5c919f715", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(013570)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "hydroxypropyl methylcellulose", "provided_by": ["infores:medic"], "synonym": ["Hypromellose", "Гипромеллоза"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30659", "medic_application_numbers": ["012302"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4294dc89-053d-5bcc-a38b-2c1fbc76dc98", "medic_reliability": "HIGH", "name": "D-thyroxine", "provided_by": ["infores:medic"], "synonym": ["DEXTROTHYROXINE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3070", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210629", "medic_mention_id": "MEDICNE:52ef1f8f-a2b1-5371-bbd5-7d67b0eb26b7", "medic_reliability": "MEDIUM", "name": "bestatin", "provided_by": ["infores:medic"], "synonym": ["Ubenimex Capsules", "乌苯美司胶囊"], "xref": ["GTOPDB:5151", "PHAROS:PC6C6QG16XWN", "PUBCHEM.COMPOUND:439299"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30745", "medic_stub": true, "name": "phenylacetic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30746", "medic_stub": true, "name": "benzoic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30751", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070807", "medic_mention_id": "MEDICNE:d64f9a95-18f8-5fa3-9d34-ae2757bf9a4d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000255"], "medic_reliability": "MEDIUM", "medic_smiles": "O=CO", "name": "formic acid", "provided_by": ["infores:medic"], "synonym": ["Formic acid", "Муравьиная кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30769", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A09AB04"], "medic_earliest_approval_date": "20070628", "medic_mention_id": "MEDICNE:36a72bf3-afa6-55e8-80b0-55e36439f249", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002537"], "medic_reliability": "MEDIUM", "medic_smiles": "O=C(O)CC(O)(CC(=O)O)C(=O)O", "name": "citric acid", "provided_by": ["infores:medic"], "synonym": ["Citric Acid + Succinic Acid", "Citric acid", "Potassium Bicarbonate + Citric Acid + Sodium Citrate", "citric acid + magnesium oxide + sodium picosulfate", "лимонная кислота+магния оксид+натрия пикосульфат"], "xref": ["GTOPDB:2478", "PHAROS:S2C9CQ2VZQ1D", "PUBCHEM.COMPOUND:311", "UNII:XF417D3PSL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3077", "medic_application_numbers": ["012657|014215|014762"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b7e3246d-c916-5926-9d22-88ffe651b8e2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000514"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@]2(C)[C@@]1(OC(=O)c1ccccc1)C(=O)CO", "name": "betamethasone", "provided_by": ["infores:medic"], "synonym": ["BETAMETHASONE", "BETAMETHASONE ACETATE; BETAMETHASONE SODIUM PHOSPHATE", "BETAMETHASONE SODIUM PHOSPHATE", "Betamethasone", "Betamethasone + Calcipotriol", "Betamethasone + Fusidic Acid", "Betamethasone + Gentamicin", "Betamethasone + Gentamicin + Clotrimazole", "Betamethasone + Hydroxocobalamin + Diclofenac", "Betamethasone + Interferon alfa-2b", "Betamethasone + Mupirocin", "Betamethasone + Salicylic Acid", "Betamethasone + [Salicylic Acid]", "Betamethasone 0.05% +Miconazole 2% Cream", "Betamethasone 0.5mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL632", "DRUGBANK:DB00443", "DrugCentral:348", "GTOPDB:7061", "PHAROS:M1RXVT6UDFF1", "PUBCHEM.COMPOUND:9782", "UNII:9842X06Q6M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3078", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:cae76588-a157-53fe-a198-1c54a66b0be9", "medic_reliability": "MEDIUM", "name": "betamethasone sodium phosphate", "provided_by": ["infores:medic"], "synonym": ["Betamethasone Sodium Phosphate 1mg + Gentamicin Sulphate (eq. to Gentamicin) 1mg (Eye Drops & Ointment)", "Betamethasone Sodium Phosphate Injection", "倍他米松磷酸钠注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30797", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20150722", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:25136e41-a016-5ef8-9cb0-1102803eaa33", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001149"], "medic_reliability": "MEDIUM", "name": "(S)-malic acid", "provided_by": ["infores:medic"], "synonym": ["(2S)-2-Hydroxybutanedioic acid", "(2S)-2-гидроксибутандиовая кислота", "Malate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30805", "medic_mention_id": "MEDICNE:a4ff97f5-a833-5b41-9bdd-8636e1290c7d", "medic_reliability": "EXCLUDED", "name": "dodecanoic acid", "provided_by": ["infores:medic"], "synonym": ["Lauric acid"], "xref": ["DRUGBANK:DB03017", "UNII:1160N9NU9U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30813", "medic_mention_id": "MEDICNE:f7bbfc1a-b40e-5827-98e1-197fd1fbe628", "medic_reliability": "EXCLUDED", "name": "decanoic acid", "provided_by": ["infores:medic"], "synonym": ["Capric acid"], "xref": ["DRUGBANK:DB03600"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3082", "medic_application_numbers": ["019270|019507|019845|075386|075446|075541|075630|078694|078962"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C07AB05", "S01ED02", "S01ED52"], "medic_earliest_approval_date": "19850830", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d7b0657f-f42a-5179-a857-ad5ed9d1ea20", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001178"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)NCC(O)COc1ccc(CCOCC2CC2)cc1", "name": "betaxolol", "provided_by": ["infores:medic"], "synonym": ["BETAXOLOL HYDROCHLORIDE", "BETAXOLOL HYDROCHLORIDE; CHLORTHALIDONE", "BETAXOLOL HYDROCHLORIDE; PILOCARPINE HYDROCHLORIDE", "Betaxolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL423", "DRUGBANK:DB00195", "DrugCentral:356", "GTOPDB:549", "PHAROS:WDJKLYLWS5JW", "PUBCHEM.COMPOUND:2369", "UNII:O0ZR1R6RZ2"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:30830", "medic_stub": true, "name": "4-hydroxybutyric acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30839", "medic_mention_id": "MEDICNE:c582da05-5a8e-5967-9c83-c2690c4d892b", "medic_reliability": "EXCLUDED", "name": "orotate", "provided_by": ["infores:medic"], "synonym": ["Orotate"], "xref": ["DRUGBANK:DB02262"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3084", "medic_application_numbers": ["006536|040483|040485|040492|040509|040518|040532|040533|040534|040551|040552|040553|040554|040633|040634|040635|040636|040677|040721|040728|040855|040897|084074|084188|084353|084378|084379|084383|084384|084402|084408|084441|084689|084702|084712|085228|085229|085230|085839|085841|085842|085882|086262|086263|087397|087444|088288|088289|088440|088441|089095|089096|091256"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:927d6a2a-d1dd-5948-955f-9e78937b15b4", "medic_reliability": "HIGH", "name": "bethanechol", "provided_by": ["infores:medic"], "synonym": ["BETHANECHOL CHLORIDE", "Bethanechol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1482", "DRUGBANK:DB01019", "DrugCentral:358", "GTOPDB:297", "PHAROS:LZMDLZWYVFM7", "PUBCHEM.COMPOUND:2370", "UNII:004F72P8F4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:30849", "medic_mention_id": "MEDICNE:585fbab8-8ee0-5c2b-b1b2-500078f8517b", "medic_reliability": "EXCLUDED", "name": "L-arabinose", "provided_by": ["infores:medic"], "synonym": ["L-arabinose"], "xref": ["DRUGBANK:DB16873"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:30879", "medic_application_numbers": ["021074"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20010607", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:80db4a98-a1d8-5dc0-a9f1-61ec352a1e17", "medic_reliability": "HIGH", "name": "alcohol", "provided_by": ["infores:medic"], "synonym": ["ALCOHOL; CHLORHEXIDINE GLUCONATE"], "xref": ["UNII:ND2M416302"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3089", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20210519", "medic_mention_id": "MEDICNE:cf95b1b2-db1e-5ef2-9eeb-b1ec80341bdb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007122"], "medic_reliability": "MEDIUM", "name": "biapenem", "provided_by": ["infores:medic"], "synonym": ["Biapenem", "Biapenem for Injection", "Биапенем"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3090", "medic_application_numbers": ["020498|076932|077973|077995|078285|078575|078634|078917|079045|079089|079110|079185|091011|200274"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19951004", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f64863ee-d085-588a-9e74-a534dad18e6e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000398"], "medic_reliability": "HIGH", "name": "bicalutamide", "provided_by": ["infores:medic"], "synonym": ["BICALUTAMIDE", "Bicalutamide", "Bicalutamide Capsules", "Bicalutamide Tablet 150 mg.(Additional Strength and Indication)", "Bicalutamide Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL409", "DRUGBANK:DB01128", "DrugCentral:367", "GTOPDB:2863", "PHAROS:TS19J1PB4SYJ", "PUBCHEM.COMPOUND:2375", "UNII:A0Z3NAU9DP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:30911", "medic_application_numbers": ["016741|017863|018512"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d1076a55-0589-5638-9f8f-06cfbc8e31e8", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001988"], "medic_reliability": "HIGH", "name": "glucitol", "provided_by": ["infores:medic"], "synonym": ["SORBITOL", "Sorbitol"], "xref": ["DRUGBANK:DB01638", "UNII:506T60A25R"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:309594", "medic_application_numbers": ["208582|211039"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fdded316-ef58-5088-b8ce-a53280b04ed5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004942"], "medic_reliability": "HIGH", "name": "oxybuprocaine", "provided_by": ["infores:medic"], "synonym": ["BENOXINATE HYDROCHLORIDE", "BENOXINATE HYDROCHLORIDE; FLUORESCEIN SODIUM", "Gramicidin C + Oxybuprocaine + Cetylpyridinium chloride", "Oxybuprocaine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200", "DRUGBANK:DB00892", "DrugCentral:3016", "PHAROS:DKZ39TBR5ZZJ", "PUBCHEM.COMPOUND:4633", "UNII:AXQ0JYM303"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31000", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D06BB11"], "medic_earliest_approval_date": "20080317", "medic_mention_id": "MEDICNE:94911321-75b7-55b9-8436-637bc5e0e27d", "medic_registration_numbers": ["MOH_RUSSIA:П N014669/01"], "medic_reliability": "LOW", "medic_smiles": "CCCCCCCCCCCCCCCCCCCCCCO", "name": "docosan-1-ol", "provided_by": ["infores:medic"], "synonym": ["Tadenan®", "Таденан®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3112", "medic_application_numbers": ["012418"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["N04AA02"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cb8c0c54-f688-58f4-bb72-b78063030046", "medic_reliability": "HIGH", "medic_smiles": "OC(CCN1CCCCC1)(c1ccccc1)C1CC2C=CC1C2", "name": "biperiden", "provided_by": ["infores:medic"], "synonym": ["BIPERIDEN HYDROCHLORIDE", "BIPERIDEN LACTATE", "Biperiden Hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL1101", "DrugCentral:374", "GTOPDB:7128", "PHAROS:9PF6YG1SK2YB", "PUBCHEM.COMPOUND:2381", "UNII:0FRP6G56LD"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31159", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["M01AB16", "M02AA25"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:2d2baf65-ca4e-5d5c-8586-f7c41361bf05", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001289"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)COC(=O)Cc1ccccc1Nc1c(Cl)cccc1Cl", "name": "aceclofenac", "provided_by": ["infores:medic"], "synonym": ["Aceclofenac", "Aceclofenac 100mg + Tizanidine 2mg film coated tablets", "Aceclofenac IP (Sustained released pellets) 200mg/200mg + Thiocolchicoside IP (Sustained released pellets) 8mg/16mg Capsules. (New Dosage Form)", "Aceclofenac Tablets", "Aceclofenac injection (150mg/3ml)", "Aceclofenac injection 150mg/ml", "Aceclofenac(100mg) + Thiocolchicoside ( 4 mg) tablets (Additional strength)", "Aceclofenac(100mg) + Thiocolchicoside ( 8 mg) tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL93645", "DRUGBANK:DB06736", "DrugCentral:43", "PHAROS:5MR3LCHHL39J", "PUBCHEM.COMPOUND:71771", "UNII:RPK779R03H"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31162", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120301", "medic_mention_id": "MEDICNE:a3d77f9f-3537-5b39-855e-206631147526", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001552"], "medic_reliability": "MEDIUM", "name": "acemetacin", "provided_by": ["infores:medic"], "synonym": ["Acemetacin", "Ацеметацин"], "xref": ["CHEMBL.COMPOUND:CHEMBL189171", "DrugCentral:47", "PHAROS:SFAZ85NN2MPJ", "PUBCHEM.COMPOUND:1981", "UNII:5V141XK28X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31171", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:2b797428-f8b6-501f-819c-d02530a11d80", "medic_reliability": "MEDIUM", "medic_smiles": "CC[C@@]1(O)C[C@H](O[C@H]2C[C@H](N(C)C)[C@H](O[C@H]3C[C@H](O)[C@H](O[C@H]4CCC(=O)[C@H](C)O4)[C@H](C)O3)[C@H](C)O2)c2c(cc3c(c2O)C(=O)c2c(O)cccc2C3=O)[C@H]1C(=O)OC.Cl", "name": "Aclarubicin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Aclarubicin Hydrochloride Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31173", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:de2c8db2-ed89-5556-9b0d-2b006ad7f122", "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)Nc1ccc(CC(=O)O)cc1", "name": "Actarit", "provided_by": ["infores:medic"], "synonym": ["Actarit 100mg Tablets"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:31174", "medic_application_numbers": ["020338|020380|020748|021753|022502|090824|090962|091314|200298|201000|203981|204593|208322|213508|215940"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["D10AD03", "D10AD53"], "medic_earliest_approval_date": "19960531", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:f00e0a0b-d810-5c0c-8a17-52626a5067de", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000738"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(-c2ccc3cc(C(=O)O)ccc3c2)cc1C12CC3CC(CC(C3)C1)C2", "name": "adapalene", "provided_by": ["infores:medic"], "synonym": ["ADAPALENE", "ADAPALENE; BENZOYL PEROXIDE", "ADAPALENE; BENZOYL PEROXIDE; CLINDAMYCIN PHOSPHATE", "Adapalene", "Adapalene + Benzoyl Peroxide", "Adapalene + Clindamycin", "Adapalene + Metronidazole", "Adapalene 0.1% + Benzoyl Peroxide 2.5% gel"], "xref": ["CHEMBL.COMPOUND:CHEMBL1265", "DRUGBANK:DB00210", "DrugCentral:87", "GTOPDB:5429", "PHAROS:XQANG5395BZM", "PUBCHEM.COMPOUND:60164", "UNII:1L4806J2QF"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31175", "medic_application_numbers": ["021449|202051|205459"], "medic_approved_authorities": ["FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "usa"], "medic_earliest_approval_date": "20020920", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:adcca45c-251e-5344-a1a6-2b30baeeb8a8", "medic_reliability": "MEDIUM", "name": "adefovir pivoxil", "provided_by": ["infores:medic"], "synonym": ["ADEFOVIR DIPIVOXIL", "Adefovir Dipivoxil Capsules", "Adefovir Dipivoxil Tablets", "阿德福韦酯片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31176", "medic_application_numbers": ["009321"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AC04"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9f2bf68c-1d9a-541c-ad10-412394a09d18", "medic_reliability": "HIGH", "medic_smiles": "O=C(CCCCC(=O)Nc1c(I)cc(I)c(C(=O)O)c1I)Nc1c(I)cc(I)c(C(=O)O)c1I", "name": "adipiodone", "provided_by": ["infores:medic"], "synonym": ["IODIPAMIDE SODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31184", "medic_application_numbers": ["018702|018707|076587|076730|076884|076973|079061|079227"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D07AB10", "S01BA10"], "medic_earliest_approval_date": "19810101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5c365a31-d539-53d3-9fd7-2ff6c300a925", "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)OCC(=O)[C@@]1(OC(=O)CC)[C@H](C)C[C@H]2[C@H]3[C@H]([C@@H](O)C[C@@]21C)[C@@]1(C)C=CC(=O)C=C1C[C@H]3Cl", "name": "alclometasone dipropionate", "provided_by": ["infores:medic"], "synonym": ["ALCLOMETASONE DIPROPIONATE", "Alclometasone Dipropionate 0.05%Cream/Ointment"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200989", "DrugCentral:4493", "PHAROS:LBFP3BN8PAFC", "PUBCHEM.COMPOUND:636374", "UNII:S56PQL4N1V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31186", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061020", "medic_mention_id": "MEDICNE:8356b841-2d9e-5bc7-bfa6-52669777c9f4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001787"], "medic_reliability": "MEDIUM", "name": "alfacalcidol", "provided_by": ["infores:medic"], "synonym": ["Alfacalcidol", "Alfacalcidol + Calcium Carbonate", "Альфакальцидол"], "xref": ["CHEMBL.COMPOUND:CHEMBL1601669", "DrugCentral:130", "PHAROS:14PS9M5U7U3Z", "PUBCHEM.COMPOUND:5282181", "UNII:URQ2517572"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31189", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["G03DC01"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:a271d348-c093-5ab9-917f-a74152dce47f", "medic_reliability": "MEDIUM", "medic_smiles": "C=CC[C@]1(O)CC[C@H]2[C@@H]3CCC4=CCCC[C@@H]4[C@H]3CC[C@@]21C", "name": "Allylestrenol", "provided_by": ["infores:medic"], "synonym": ["Allyloestrenol 5mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31198", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19911007", "medic_mention_id": "MEDICNE:865bb6b0-d034-5c03-816a-89decac1283e", "medic_reliability": "MEDIUM", "name": "Ambroxol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ambroxol Hydrochloride Capsules", "Ambroxol Hydrochloride Extended-Release Capsules", "Ambroxol Hydrochloride Injection", "Ambroxol Hydrochloride Orally Disintegrating Tablets", "Ambroxol Hydrochloride Tablets", "盐酸氨溴索注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31199", "medic_application_numbers": ["018116|018498|019729|076065|076096|076229|076329|076367"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D07AC11"], "medic_earliest_approval_date": "19820101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:88593042-fb98-5f62-ad0d-fccc3c5e2ab1", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC(=O)[C@@]12OC3(CCCC3)O[C@@H]1C[C@H]1[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]12C", "name": "amcinonide", "provided_by": ["infores:medic"], "synonym": ["AMCINONIDE", "Amcinonide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200732", "DRUGBANK:DB00288", "DrugCentral:150", "PHAROS:KFR6LQ78K3V7", "PUBCHEM.COMPOUND:443958", "UNII:423W026MA9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31205", "medic_application_numbers": ["020511|021727"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD07", "R03DX01"], "medic_earliest_approval_date": "19961217", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a5f3fddc-8d58-514e-84db-dc47a7bb3b99", "medic_reliability": "HIGH", "medic_smiles": "CC(C)c1ccc2oc3nc(N)c(C(=O)O)cc3c(=O)c2c1", "name": "amlexanox", "provided_by": ["infores:medic"], "synonym": ["AMLEXANOX"], "xref": ["CHEMBL.COMPOUND:CHEMBL1096", "DrugCentral:182", "PHAROS:BQU5D4ZF972P", "PUBCHEM.COMPOUND:2161", "UNII:BRL1C2459K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31206", "medic_application_numbers": ["006580|083130|085734|086205|088366"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:de7fbfab-9933-50cb-a5ca-9433ebe9d14e", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000743"], "medic_reliability": "HIGH", "name": "ammonium chloride", "provided_by": ["infores:medic"], "synonym": ["AMMONIUM CHLORIDE", "Ammonium chloride", "Carboinoxamine Maleate + Ammonium Chloride + Sodium Citrate (Each 5 ml contains: 2 mg + 120 mg + 120 mg) syrup"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31221", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:f0b8ef91-3481-5690-a2d0-75c136c31f1b", "medic_reliability": "EXCLUDED", "name": "Anetholtrithion", "provided_by": ["infores:medic"], "synonym": ["Anethole trithione"], "xref": ["DRUGBANK:DB13853"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31234", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A05BA01"], "medic_earliest_approval_date": "20090209", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:f62bf0c2-03f3-5145-b42d-dec15d4cd817", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000063"], "medic_reliability": "MEDIUM", "medic_smiles": "N=C(N)NCCC[C@H](N)C(=O)O.N[C@@H](CCC(=O)O)C(=O)O", "name": "Arginine glutamate", "provided_by": ["infores:medic"], "synonym": ["Arginine glutamate", "Аргинина глутамат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31236", "medic_application_numbers": ["021436|021713|021729|021866|078583|078607|078608|078708|090165|090472|091279|201519|202101|202102|202547|202683|202971|203025|203906|203908|204094|204111|204171|204838|205064|205363|205589|206174|206240|206251|206383|207105|207202|207240|210479|211448|212870|213037|215582|215595|216150|216208|216351|216608|216655|217006"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["N05AX12"], "medic_earliest_approval_date": "20021115", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b774ea56-1194-5c9e-bb70-32a08ee05341", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001756"], "medic_reliability": "HIGH", "medic_smiles": "O=C1CCc2ccc(OCCCCN3CCN(c4cccc(Cl)c4Cl)CC3)cc2N1", "name": "aripiprazole", "provided_by": ["infores:medic"], "synonym": ["ARIPIPRAZOLE", "ARIPIPRAZOLE HYDRATE", "Aripiprazole", "Aripiprazole Capsules", "Aripiprazole Orally Disintegrating Tablets", "Aripiprazole Tablets", "aripiprazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1112", "DRUGBANK:DB01238", "DrugCentral:242", "GTOPDB:34", "PHAROS:NY2L457GCS5B", "PUBCHEM.COMPOUND:60795", "UNII:82VFR53I78"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31247", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20100120", "medic_mention_id": "MEDICNE:e8c7f5be-9d0f-5816-b281-3c9283a5d958", "medic_reliability": "HIGH", "name": "Azelnidipine", "provided_by": ["infores:medic"], "synonym": ["AZELNIDIPINE", "Azelnidipine bulk and Azelnidipine tablets 16 mg", "Azelnidipine tablets IP 8 mg", "FDC of Azelnidipine 8mg and Telmisartan 40mg tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1275868", "DrugCentral:272", "PHAROS:TDZ18N7WPMVW", "PUBCHEM.COMPOUND:65948", "UNII:PV23P19YUG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3125", "medic_application_numbers": ["021551|202217"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["A06AB02", "A06AB52", "A06AG02"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a2432ec0-e8a1-5bdd-9f55-0571ca309804", "medic_registration_numbers": ["MOH_RUSSIA:87/848/1"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Oc1ccc(C(c2ccc(OC(C)=O)cc2)c2ccccn2)cc1", "name": "Bisacodyl", "provided_by": ["infores:medic"], "synonym": ["BISACODYL; POLYETHYLENE GLYCOL 3350; POTASSIUM CHLORIDE; SODIUM BICARBONATE; SODIUM CHLORIDE", "Bisacodyl", "Bisacodyl Enteric-Coated Tablets", "Bisacodyl Tablet & Suppository"], "xref": ["DRUGBANK:DB09020", "UNII:R09078E41Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31252", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:61584dfe-089d-54d9-bafb-a1223aba7087", "medic_registration_numbers": ["MOH_RUSSIA:64/228/26"], "medic_reliability": "MEDIUM", "name": "5,5-diethylbarbituric acid", "provided_by": ["infores:medic"], "synonym": ["Barbital", "Verona", "Барбитал"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31260", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19921124", "medic_mention_id": "MEDICNE:a546ef3d-e7a2-53f6-a457-1a42b12371f9", "medic_reliability": "LOW", "name": "oxybuprocaine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Banoxinate Hcl Ophthalmic Solution"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31263", "medic_application_numbers": ["018366"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V04CK03"], "medic_earliest_approval_date": "19831229", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7d96c67a-40a7-5c90-9844-71a191b8d8e4", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1ccc(NC(=O)[C@H](Cc2ccc(O)cc2)NC(=O)c2ccccc2)cc1", "name": "bentiromide", "provided_by": ["infores:medic"], "synonym": ["BENTIROMIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31266", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:2c19abc8-8542-52cf-9d25-9cf4ef355be5", "medic_reliability": "MEDIUM", "name": "Benzydamine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Benzydamine Hcl 3% Topical Cream"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31268", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051216", "medic_mention_id": "MEDICNE:2a6f231d-2e86-5941-bb83-4cbee07b31b5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006517"], "medic_reliability": "MEDIUM", "name": "benzyl nicotinate", "provided_by": ["infores:medic"], "synonym": ["Benzyl nicotinate", "Benzyl nicotinate + Benzocaine + Sodium heparin", "Sodium Heparin + Benzocaine + Benzyl Nicotinate", "Бензилникотинат+Бензокаин+Гепарин натрия"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3127", "medic_application_numbers": ["019982|075474|075643|075644|075831|077910|078635|204891|215563|215680|217368|217617|218303|219044"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19920731", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:beb7a69b-b049-58b7-8873-48605b7fa03a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000587"], "medic_reliability": "HIGH", "name": "bisoprolol", "provided_by": ["infores:medic"], "synonym": ["BISOPROLOL", "BISOPROLOL FUMARATE", "BISOPROLOL FUMARATE; HYDROCHLOROTHIAZIDE", "Bisoprolol", "Bisoprolol and Amlodipine Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL645", "DRUGBANK:DB00612", "DrugCentral:380", "PHAROS:KYL32DCFZQT9", "PUBCHEM.COMPOUND:2405", "UNII:Y41JS2NL6U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31274", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20090101", "medic_mention_id": "MEDICNE:9b52b1d9-8c9e-53d9-bd57-c6410566517c", "medic_reliability": "MEDIUM", "medic_smiles": "CNCCc1ccccn1.CS(=O)(=O)O.CS(=O)(=O)O", "name": "Betahistine mesilate", "provided_by": ["infores:medic"], "synonym": ["Betahistine Mesilate Tablet 6mg/12mg"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31276", "medic_application_numbers": ["021852|022185|200174|201615|207589|210765|212367|213269|213422|214688"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:75f45016-7c4a-5e03-812a-536198669ab1", "medic_reliability": "HIGH", "name": "betamethasone dipropionate", "provided_by": ["infores:medic"], "synonym": ["BETAMETHASONE DIPROPIONATE", "BETAMETHASONE DIPROPIONATE; CALCIPOTRIENE", "BETAMETHASONE DIPROPIONATE; CLOTRIMAZOLE", "Betamethasone Dipropionate 0.5mg/g Ointment"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200384", "DrugCentral:353", "PHAROS:9Y9CQBC27H6D", "PUBCHEM.COMPOUND:21800", "UNII:826Y60901U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31277", "medic_application_numbers": ["016322|016740|016932|018642|018839|018860|018861|018862|018863|018864|018865|018866|018867|018870|020934|070050|070051|070052|070053|070062|070069|070072|070484|070485|070486|071478|071883|072041|078337|207144|208204|210639|215832"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:14f15c42-d072-596d-85f8-36e17a39f943", "medic_reliability": "HIGH", "name": "betamethasone valerate", "provided_by": ["infores:medic"], "synonym": ["BETAMETHASONE VALERATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1497", "DrugCentral:354", "PHAROS:FWA1U121XQ2W", "PUBCHEM.COMPOUND:16533", "UNII:9IFA5XM7R2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31279", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:81b2c0cf-8751-52f7-a960-ccc09d89f504", "medic_reliability": "MEDIUM", "name": "bethanidine sulfate", "provided_by": ["infores:medic"], "synonym": ["Bethanidine Sulphate 10mg & 50mg Tablets", "Bethanidine Sulphate 10mg/50mg Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3128", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19920227", "medic_mention_id": "MEDICNE:84323305-a62c-52ff-86bb-fafc45a5fb4d", "medic_reliability": "MEDIUM", "name": "bisoprolol fumarate", "provided_by": ["infores:medic"], "synonym": ["Bisoprolol Fumarate Tablets", "Bisoprolol Fumerate (2:1) 5mg/10mg Film Coated Tablet", "富马酸比索洛尔片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31281", "medic_application_numbers": ["022288|206066|206220|214588|217770"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "20090908", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0951ab1a-cb97-5a3e-904c-4d006af6ca4e", "medic_reliability": "MEDIUM", "name": "bepotastine besylate", "provided_by": ["infores:medic"], "synonym": ["BEPOTASTINE BESILATE", "Bepotastine Besilate 1.5", "Bepotastine Besilate 1.5 %w/v", "Bepotastine Besilate 10 mg", "Bepotastine Besilate Bulk", "Bepotastine Besilate Bulk &"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31286", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["D01AC10", "D01AC60"], "medic_earliest_approval_date": "19971128", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:35e5225e-3713-5511-b97b-32f0561b09ee", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001299"], "medic_reliability": "HIGH", "medic_smiles": "c1ccc(-c2ccc(C(c3ccccc3)n3ccnc3)cc2)cc1", "name": "bifonazole", "provided_by": ["infores:medic"], "synonym": ["Bifonazole", "Mycospor®", "i)Bifonazole 0.01gm/1gm Cream/Powder ii)Bifonazole 0.01gm/1ml Solution"], "xref": ["CHEMBL.COMPOUND:CHEMBL277535", "DrugCentral:370", "PHAROS:5S5WULBAQTUJ", "PUBCHEM.COMPOUND:2378", "UNII:QYJ305Z91O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31290", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A11DA02"], "medic_earliest_approval_date": "20091118", "medic_mention_id": "MEDICNE:8f169ea1-01a4-50a2-ad6e-a921475bf84e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004431)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "C/C(=C(/CCOC(=O)C(C)C)SS/C(CCOC(=O)C(C)C)=C(\\C)N(C=O)Cc1cnc(C)nc1N)N(C=O)Cc1cnc(C)nc1N", "name": "Bisibuthiamine", "provided_by": ["infores:medic"], "synonym": ["Sulbutiamine", "Сульбутиамин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31292", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080505", "medic_mention_id": "MEDICNE:bd58c3fe-1fc8-5545-ae7e-df4c3c21164f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006182"], "medic_reliability": "HIGH", "name": "bismuth subgallate", "provided_by": ["infores:medic"], "synonym": ["Benzocaine + Bismuth subgallate + Zinc oxide + Levomenthol", "Benzocaine + Bismuth subgallate + Zinc oxide + [Levomenthol]", "Bismuth subgallate"], "xref": ["DRUGBANK:DB13909"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31293", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090610", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:b24a5aba-f0cb-5a32-b4b0-ac65fd94e81c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005396"], "medic_reliability": "MEDIUM", "name": "Bismuth subnitrate", "provided_by": ["infores:medic"], "synonym": ["Bismuth subnitrate", "Bismuth subnitrate + Iodine + Zinc oxide", "Висмута субнитрат+Йод+Цинка оксид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31296", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20120101", "medic_mention_id": "MEDICNE:10adeee9-82f9-5da9-a34d-ef32ff4fd775", "medic_reliability": "HIGH", "medic_smiles": "CCN1CCN(c2cc(-c3ccc(F)cc3)c3c(n2)CCCCCC3)CC1", "name": "Blonanserin", "provided_by": ["infores:medic"], "synonym": ["BLONANSERIN", "Blonanserin Tablet 2mg/4mg/8mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL178803", "DrugCentral:388", "GTOPDB:7670", "PHAROS:QA8U4CFA1Z13", "PUBCHEM.COMPOUND:125564", "UNII:AQ316B4F8C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31303", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:049ab211-b6bd-5664-87e6-e92a35a67010", "medic_reliability": "MEDIUM", "name": "bromhexine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bromhexine Hydrochloride 8mg Tablet", "Bromhexine Hydrochloride Granules", "Bromhexine Hydrochloride Injection", "Bromhexine Hydrochloride Tablets", "盐酸溴己新片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31324", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:9942c7d4-49a7-5561-81b1-6b2261027ac7", "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)O.CCNC(=O)[C@@H]1CCCN1C(=O)[C@H](CCCNC(=N)N)NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](COC(C)(C)C)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1cnc[nH]1)NC(=O)[C@@H]1CCC(=O)N1", "name": "Buserelin acetate", "provided_by": ["infores:medic"], "synonym": ["Buserelin Acetate 4mcg/ml Injection (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3133", "medic_application_numbers": ["018770|019548"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19841228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:16c9c622-a703-5de1-a550-24b3f3ccdb4e", "medic_reliability": "HIGH", "name": "bitolterol", "provided_by": ["infores:medic"], "synonym": ["BITOLTEROL MESYLATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201295", "DrugCentral:384", "PHAROS:7QCR8S5UUJ2L", "PUBCHEM.COMPOUND:35330", "UNII:9KY0QXD6LI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31336", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070320", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:c3ddb52d-c217-55f8-b484-28e07bdb8ddd", "medic_registration_numbers": ["MOH_RUSSIA:Р N001099/01"], "medic_reliability": "MEDIUM", "name": "calcium glycerophosphate", "provided_by": ["infores:medic"], "synonym": ["Calcium glycerophosphate", "Кальция глицерофосфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31340", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051202", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:253812bb-1233-5511-9fd3-36350c6029ef", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003462"], "medic_reliability": "MEDIUM", "name": "Calcium folinate", "provided_by": ["infores:medic"], "synonym": ["Calcium folinate", "Кальция фолинат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31342", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:b9c08278-a454-5694-a345-9acc8ede31d6", "medic_reliability": "MEDIUM", "medic_smiles": "[Ca+2].[O-]Cl.[O-]Cl", "name": "Calcium hypochlorite", "provided_by": ["infores:medic"], "synonym": ["Calcium Hypochlorite 4gm Sachet (Calcium Hypochlorite 0.542% Other Ingredients: 99.458%)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31345", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061110", "medic_mention_id": "MEDICNE:1bc6aa8e-e328-5137-8b4f-1c58706c469c", "medic_registration_numbers": ["MOH_RUSSIA:П N013594/01"], "medic_reliability": "MEDIUM", "name": "Calcium pantothenate", "provided_by": ["infores:medic"], "synonym": ["Calcium pantothenate", "Кальция пантотенат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31347", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:139419de-d3bb-51bc-bd1b-4379aabd0b10", "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)C(=O)COC(=O)Cc1ccc(OC(=O)c2ccc(NC(=N)N)cc2)cc1.CS(=O)(=O)O", "name": "camostat mesylate", "provided_by": ["infores:medic"], "synonym": ["Camostat Mesylate tablets 100mg"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31349", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:18566009-c533-5a63-ae1d-2aacc162f254", "medic_reliability": "MEDIUM", "medic_smiles": "CN1CC(O)C2=CC(=NNC(N)=O)C(=O)C=C21", "name": "carbazochrome", "provided_by": ["infores:medic"], "synonym": ["Adrenochrome Monosemicarbazone (Bulk)", "Carbazochrome Salicylate (eq. to Adrenochrone Monosemicarbazone) 5mg/ml Injection"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:313639", "medic_mention_id": "MEDICNE:7f5d6cc0-6fdd-54af-8282-44defb5ce508", "medic_reliability": "EXCLUDED", "name": "profenamine", "provided_by": ["infores:medic"], "synonym": ["Profenamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1206", "DRUGBANK:DB00392", "DrugCentral:1086", "GTOPDB:7181", "PHAROS:Q3RG8ZDFVVMX", "PUBCHEM.COMPOUND:3290", "UNII:7WI4P02YN1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31371", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19950919", "medic_mention_id": "MEDICNE:81cf5d38-12d8-537c-975a-d03401d65876", "medic_reliability": "MEDIUM", "name": "cefminox sodium", "provided_by": ["infores:medic"], "synonym": ["Cefminox Sodium for Injection", "注射用头孢米诺钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31385", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19941201", "medic_mention_id": "MEDICNE:49bb91da-6242-5906-ae2a-bb49e4784b5b", "medic_reliability": "MEDIUM", "medic_smiles": "CCN(CC)C(=O)Nc1ccc(OCC(O)CNC(C)(C)C)c(C(C)=O)c1.Cl", "name": "Celiprolol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Celiprolol Hydrochloride 100mg/200mg/400mg Film Coated Tablet"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3139", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b998ca7a-bd36-516e-8bb1-bd9973c2e796", "medic_registration_numbers": ["MOH_RUSSIA:85/1520/6"], "medic_reliability": "HIGH", "name": "bleomycin A2", "provided_by": ["infores:medic"], "synonym": ["Bleomycin"], "xref": ["DRUGBANK:DB00290"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31392", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:fecab446-e0cf-5581-a4c9-7fe435cba01d", "medic_reliability": "MEDIUM", "name": "Chlophedianol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Chlophedianol hydrochloride 5% drops"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31394", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081224", "medic_mention_id": "MEDICNE:61b3d27c-22f2-50cc-8e98-dae13ebfad5f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007321"], "medic_reliability": "MEDIUM", "name": "Chlormadinone acetate", "provided_by": ["infores:medic"], "synonym": ["Chlormadinone + Ethinylestradiol", "Хлормадинон+Этинилэстрадиол"], "xref": ["CHEMBL.COMPOUND:CHEMBL110691", "PHAROS:U3KPLR9481D1", "PUBCHEM.COMPOUND:9324"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31398", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:ed413e04-b9a3-5793-8708-157d10fffc84", "medic_reliability": "MEDIUM", "name": "ciclopirox olamine", "provided_by": ["infores:medic"], "synonym": ["Ciclopirox Olamine 10mg/1gm Cream", "Ciclopirox Olamine 10mg/ml Solution"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31399", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["C08CA14"], "medic_earliest_approval_date": "20140324", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:ad45a854-1c3a-596c-940c-803ad56a9cdf", "medic_reliability": "HIGH", "medic_smiles": "COCCOC(=O)C1=C(C)NC(C)=C(C(=O)OC/C=C/c2ccccc2)C1c1cccc([N+](=O)[O-])c1", "name": "cilnidipine", "provided_by": ["infores:medic"], "synonym": ["CILNIDIPINE"], "xref": ["CHEMBL.COMPOUND:CHEMBL452076", "DrugCentral:642", "GTOPDB:7767", "PHAROS:1H1BAJBRD5A8", "PUBCHEM.COMPOUND:5282138", "UNII:97T5AZ1JIP"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31410", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20120701", "medic_mention_id": "MEDICNE:ee997c1a-cfcc-5657-912f-c425c5cbe3b7", "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)(C)NCC(O)c1cc(Cl)c(N)c(Cl)c1.Cl", "name": "clenbuterol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Clenbuterol Hydrochloride Solution for injection 30mcg/ml"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31502", "medic_application_numbers": ["017434"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:10cfb42f-5ef9-5823-aff7-1e1e23710d5e", "medic_reliability": "HIGH", "name": "Dinoprost tromethamine", "provided_by": ["infores:medic"], "synonym": ["DINOPROST TROMETHAMINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31508", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:e2084824-8436-558c-866d-3ff836a1d65e", "medic_reliability": "MEDIUM", "medic_smiles": "CN1CCC(OC(c2ccccc2)c2ccccc2)CC1.Cl", "name": "diphenylpyraline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Diphenylpyraline Hydrochloride 5mg Capsule"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31516", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20001003", "medic_mention_id": "MEDICNE:5182dd65-318f-5806-81a5-2b8221abeb2f", "medic_reliability": "MEDIUM", "name": "Doramectin", "provided_by": ["infores:medic"], "synonym": ["Doramectin 1% Injectable Solution (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31521", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:c8b66533-fa17-557c-b130-e86d731f991b", "medic_reliability": "MEDIUM", "medic_smiles": "C[C@H]1O[C@@H](n2cc(F)c(=O)[nH]c2=O)[C@H](O)[C@@H]1O", "name": "doxifluridine", "provided_by": ["infores:medic"], "synonym": ["Doxifluridine Capsules 100mg/200mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31522", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:e5d8c248-1881-54d1-9bbd-3fb124915862", "medic_reliability": "MEDIUM", "name": "Doxorubicin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Doxorubicin Hydrochloride 10mg/vial"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31527", "medic_application_numbers": ["017388"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["G03DB01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1b9a41dc-b955-5b61-b5b9-c89c955451be", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001103)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[C@H]1CC[C@H]2[C@@H]3C=CC4=CC(=O)CC[C@@]4(C)[C@@H]3CC[C@]12C", "name": "dydrogesterone", "provided_by": ["infores:medic"], "synonym": ["DYDROGESTERONE", "Dydrogesterone", "Dydrogesterone + Estradiol", "Dydrogesterone + Estradiol and Estradiol", "Dydrogesterone + Estradiol and Estradiol [set]", "Dydrogesterone Tablets", "Isopregnenone (Dydrogestrone) 5mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200853", "DRUGBANK:DB00378", "DrugCentral:975", "GTOPDB:2878", "PHAROS:MDT3BD6DDGHH", "PUBCHEM.COMPOUND:9051", "UNII:90I02KLE8K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31528", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_atc_codes": ["R06AX22"], "medic_earliest_approval_date": "20080910", "medic_mention_id": "MEDICNE:b284644d-a46c-527d-a441-4d7bbf88d2ee", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000789"], "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)(C)c1ccc(C(=O)CCCN2CCC(OC(c3ccccc3)c3ccccc3)CC2)cc1", "name": "Ebastine", "provided_by": ["infores:medic"], "synonym": ["Ebastine", "Ebastine Hydrochloride Capsules", "Ebastine Hydrochloride Tablets", "Эбастин"], "xref": ["CHEMBL.COMPOUND:CHEMBL305660", "DrugCentral:977", "PHAROS:Z4PMKLF1FYC7", "PUBCHEM.COMPOUND:3191", "UNII:TQD7Q784P1"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31536", "medic_application_numbers": ["021500|021896|079188|091168"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["J05AF09"], "medic_earliest_approval_date": "20030702", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:191191c6-1898-5bfa-ad9f-78b19bf50043", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002506"], "medic_reliability": "HIGH", "medic_smiles": "Nc1nc(=O)n([C@@H]2CS[C@H](CO)O2)cc1F", "name": "emtricitabine", "provided_by": ["infores:medic"], "synonym": ["EMTRICITABINE", "Emtricitabine", "emtricitabine", "emtricitabine;rilpivirine;tenofovir alafenamide", "emtricitabine;rilpivirine;tenofovir disoproxil", "emtricitabine;tenofovir alafenamide", "emtricitabine;tenofovir disoproxil"], "xref": ["DRUGBANK:DB00879", "UNII:G70B4ETF4S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31539", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:d2d77afd-9393-54b6-8097-e0c008247a01", "medic_reliability": "MEDIUM", "medic_smiles": "CC(/C=C1\\SC(=S)N(CC(=O)O)C1=O)=C\\c1ccccc1", "name": "epalrestat", "provided_by": ["infores:medic"], "synonym": ["Epalrestat 50mg + Methylcobalamin 500mcg Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL56337", "DrugCentral:1021", "PHAROS:TW9BA8K15VZA", "PUBCHEM.COMPOUND:1549120", "UNII:424DV0807X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31540", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20110624", "medic_mention_id": "MEDICNE:bee8c8ba-3cac-5d2b-a8e3-473c1ab779bd", "medic_reliability": "MEDIUM", "name": "Eperisone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Eperisone Hydrochloride Sustained Release Capsule 75mg/150mg (Modified Dosage Form)", "Eperisone Hydrochloride Tablets", "盐酸乙哌立松片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31541", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250715", "medic_mention_id": "MEDICNE:59bbb1d3-daf9-587a-9d16-0acb26828ca9", "medic_reliability": "MEDIUM", "name": "Ephedrine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ephedrine Hydrochloride Injection", "盐酸麻黄碱注射液"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31555", "medic_application_numbers": ["050207|050297|061639|061904|061905|062055|062123|062177|062198|062200|062231|062256|062304|062305|062306|062558|062559|062674|062847|211204|211991|216212"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1ccf979b-a77e-5060-a8ec-fb4dd4b5ce90", "medic_reliability": "HIGH", "name": "erythromycin ethylsuccinate", "provided_by": ["infores:medic"], "synonym": ["ERYTHROMYCIN ETHYLSUCCINATE", "ERYTHROMYCIN ETHYLSUCCINATE; SULFISOXAZOLE ACETYL", "Erythromycin Ethylsuccinate Granules"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31556", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080701", "medic_mention_id": "MEDICNE:292a4ea6-87ed-5683-b0d8-0022d154087c", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-005120/08"], "medic_reliability": "MEDIUM", "name": "esatenolol", "provided_by": ["infores:medic"], "synonym": ["Esatenolol", "Эсатенолол"], "xref": ["DrugCentral:4702", "PHAROS:MSS8M6T72LJT", "UNII:DPF757BOSR"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31561", "medic_application_numbers": ["009402|040628|083546|083547|083714|090920|203723|216656"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:89e70663-eedf-5e6a-b972-d771236f8f6d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010911)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "Estradiol valerate", "provided_by": ["infores:medic"], "synonym": ["ESTRADIOL VALERATE", "ESTRADIOL VALERATE; TESTOSTERONE ENANTHATE", "Estradiol Valerate 1mg/2mg Tablet", "Estradiol Valerate Tablets", "Estradiol Valerate and Levonorgestrel + Estradiol Valerate [Set]", "Estradiol valerate", "Эстрадиола валерат"], "xref": ["CHEMBL.COMPOUND:CHEMBL1511", "DrugCentral:1064", "PHAROS:ANPG1TJSGUQF", "PUBCHEM.COMPOUND:13791", "UNII:OKG364O896"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31563", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["B02BX01"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:a2d1fcd6-f459-5841-a570-ab4b038b6052", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002436"], "medic_reliability": "HIGH", "medic_smiles": "CCNCC.O=S(=O)(O)c1cc(O)ccc1O", "name": "Etamsylate", "provided_by": ["infores:medic"], "synonym": ["Etamsylate", "Ethamsylate 250mg/500mg Tablet", "Этамзилат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31570", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20120622", "medic_mention_id": "MEDICNE:68beb19a-63e4-5183-9fc3-83709f376498", "medic_reliability": "HIGH", "name": "Ethyl icosapentate", "provided_by": ["infores:medic"], "synonym": ["ETHYL ICOSAPENTATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31578", "medic_application_numbers": ["014005|014006"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A14AB02"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a855fce0-17eb-5121-8909-4202c9497a26", "medic_reliability": "HIGH", "medic_smiles": "CC[C@]1(O)CC[C@H]2[C@@H]3CCC4=CCCC[C@@H]4[C@H]3CC[C@@]21C", "name": "ethylestrenol", "provided_by": ["infores:medic"], "synonym": ["ETHYLESTRENOL", "Ethylestrenol 2mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200623", "DrugCentral:1094", "PHAROS:9F6HRDUJMBXW", "PUBCHEM.COMPOUND:13765", "UNII:ADC79EK5Q8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31583", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["N05BA19"], "medic_earliest_approval_date": "20071029", "medic_mention_id": "MEDICNE:54781081-2939-51ee-9b61-0931a61e1995", "medic_reliability": "MEDIUM", "medic_smiles": "CCc1cc2c(s1)-n1c(C)nnc1CN=C2c1ccccc1Cl", "name": "Etizolam", "provided_by": ["infores:medic"], "synonym": ["Etizolam CR Tablets 1.5 mg/3 mg (modified Dosage Form)", "Etizolam Tablet (0.5mg/1mg)."]}
{"category": ["biolink:Drug"], "id": "CHEBI:31586", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080815", "medic_mention_id": "MEDICNE:f8af742f-5041-5aa1-9806-f1626786b134", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010273)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Exametazime", "provided_by": ["infores:medic"], "synonym": ["Exametazim", "[99mTc]Exametazime", "Технеция [99mTс] эксаметазим"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31591", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250514", "medic_mention_id": "MEDICNE:11c98064-b231-5a96-8a32-ac6f9aec9107", "medic_reliability": "MEDIUM", "name": "Faropenem sodium", "provided_by": ["infores:medic"], "synonym": ["FaroPenem Sodium Tablets", "法罗培南钠片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31593", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20010822", "medic_mention_id": "MEDICNE:d0c3ab7d-f18e-58ff-8028-29ae573fe51e", "medic_reliability": "MEDIUM", "name": "fasudil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Fasudil Hydrochloride Injection", "盐酸法舒地尔注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31596", "medic_application_numbers": ["021856|205374|205385|205406|205414|205421|205443|205467|206266|207293|210292|210461|210741|211837|212924|213069"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["M04AA03"], "medic_earliest_approval_date": "20080421", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:442daa49-5624-5dea-8e83-ff9a15dcb1c6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003746"], "medic_reliability": "HIGH", "medic_smiles": "Cc1nc(-c2ccc(OCC(C)C)c(C#N)c2)sc1C(=O)O", "name": "febuxostat", "provided_by": ["infores:medic"], "synonym": ["FEBUXOSTAT", "Febuxostat", "Febuxostat Tablets", "Febuxostat Tablets 80mg / 120mg", "febuxostat"], "xref": ["CHEMBL.COMPOUND:CHEMBL1164729", "DRUGBANK:DB04854", "DrugCentral:1137", "GTOPDB:6817", "PHAROS:QXZ97DF5M3KC", "PUBCHEM.COMPOUND:134018", "UNII:101V0R1N2E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31597", "medic_mention_id": "MEDICNE:4caeb872-40c8-571d-ac4d-262278bc7781", "medic_reliability": "EXCLUDED", "name": "biphenyl-4-ylacetic acid", "provided_by": ["infores:medic"], "synonym": ["Felbinac"], "xref": ["CHEMBL.COMPOUND:CHEMBL413965", "DRUGBANK:DB07477", "DrugCentral:1141", "PHAROS:WWNLGLSV4QCM", "PUBCHEM.COMPOUND:3332", "UNII:94WNJ5U8L7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3160", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia"], "medic_earliest_approval_date": "20080314", "medic_mention_id": "MEDICNE:0e0b0c3f-dc39-537a-997b-2035af2f757d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011387)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "Botulinum toxin type A", "provided_by": ["infores:medic"], "synonym": ["BOTULINUM TOXIN TYPE A", "Botulinum Toxin Type A", "Botulinum toxin type A 50 Units/Vial and 100 Units/Vial (Additional Indication)", "Botulinum toxin type a", "botulinum toxin type a"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297862", "DRUGBANK:DB00083", "DrugCentral:5368", "UNII:E211KPY694"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31602", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20201230", "medic_mention_id": "MEDICNE:ce76e71f-707d-5ec9-b833-b90c9ce814fa", "medic_reliability": "MEDIUM", "name": "fentanyl citrate", "provided_by": ["infores:medic"], "synonym": ["Fentanyl Citrate Injection", "枸橼酸芬太尼注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31604", "medic_application_numbers": ["020292"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971014", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fcce58bc-bd57-52b1-94b3-90754e4d7d6f", "medic_reliability": "HIGH", "name": "ferric ammonium citrate", "provided_by": ["infores:medic"], "synonym": ["FERRIC AMMONIUM CITRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31607", "medic_application_numbers": ["016766|016854"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["B03AA02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:822a83d5-3f80-5776-916c-8d683bd4483f", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-008311/08"], "medic_reliability": "HIGH", "name": "Ferrous fumarate", "provided_by": ["infores:medic"], "synonym": ["ETHINYL ESTRADIOL; FERROUS FUMARATE; NORETHINDRONE", "ETHINYL ESTRADIOL; FERROUS FUMARATE; NORETHINDRONE ACETATE", "Iron fumarate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31615", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220408", "medic_mention_id": "MEDICNE:764a4e25-499f-55fd-9b3c-c9b1f50882d3", "medic_reliability": "MEDIUM", "name": "flucloxacillin sodium", "provided_by": ["infores:medic"], "synonym": ["Flucloxacillin Sodium for Injection", "注射用氟氯西林钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31620", "medic_application_numbers": ["016379"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3a395485-787b-54b7-b6fb-85c9ae7f8adc", "medic_reliability": "HIGH", "name": "flumethasone pivalate", "provided_by": ["infores:medic"], "synonym": ["FLUMETHASONE PIVALATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200877", "DrugCentral:1198", "PHAROS:2HF7Q34ND6ZG", "PUBCHEM.COMPOUND:443980", "UNII:0DV09X6F21"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31621", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19890620", "medic_mention_id": "MEDICNE:41e602e0-838a-52b6-81fd-357bce89891a", "medic_reliability": "MEDIUM", "name": "Flunarizine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Flunarizine Hydrochloride Capsules", "Flunarizine Hydrochloride Tablets", "盐酸氟桂利嗪胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31622", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120216", "medic_mention_id": "MEDICNE:26e8e463-de25-55d3-b3ff-13a0532dcbab", "medic_registration_numbers": ["MOH_RUSSIA:П N011462/01"], "medic_reliability": "LOW", "name": "flunitrazepam", "provided_by": ["infores:medic"], "synonym": ["Silence", "Силест"], "xref": ["CHEMBL.COMPOUND:CHEMBL13280", "DrugCentral:1202", "GTOPDB:4193", "PHAROS:H4DRTXVUJDS3", "PUBCHEM.COMPOUND:3380", "UNII:620X0222FQ"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31623", "medic_application_numbers": ["012787|013960|015296|016161|019452|020001|021737|040035|040041|040042|040059|086810|086811|087102|087104|087156|087157|087158|087159|087300|088045|088046|088047|088048|088167|088168|088169|088170|088171|088172|088173|088174|088312|088360|088361|088449|088499|088506|088507|088742|088756|088757|089124|089524|089525|089526|090982|091306|091514|201759|201764|201923|202368|202705|202847|202848|202849|203377|203378|206422|207345|207347|207441|208386|209336|209596|209913|210331|210539|210556|210736|210747|211815|212760|212761|212762|213264"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0e118267-d791-5277-8a36-7b38f2338e23", "medic_registration_numbers": ["MOH_RUSSIA:81/1167/3"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12C=CC(=O)C=C1[C@@H](F)C[C@H]1[C@@H]3C[C@@H](O)[C@](O)(C(=O)CO)[C@@]3(C)C[C@H](O)[C@@]12F", "name": "fluocinolone acetonide", "provided_by": ["infores:medic"], "synonym": ["FLUOCINOLONE ACETONIDE", "FLUOCINOLONE ACETONIDE; HYDROQUINONE; TRETINOIN", "FLUOCINOLONE ACETONIDE; NEOMYCIN SULFATE", "Fluocinolone Acetonide", "Fluocinolone acetonide", "Lidocaine + Fluocinolone Acetonide", "Neomycin + Fluocinolone Acetonide"], "xref": ["CHEMBL.COMPOUND:CHEMBL989", "DrugCentral:1204", "GTOPDB:7077", "PHAROS:1548BYMBU42P", "PUBCHEM.COMPOUND:6215", "UNII:0CD5FD6S2M"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31632", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:01644e5a-795b-5c81-919f-373e3fd769f8", "medic_reliability": "LOW", "name": "fondaparinux sodium", "provided_by": ["infores:medic"], "synonym": ["Fondaparinax Sodium injection (Additional Indication)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31638", "medic_application_numbers": ["021344|205871|205935|207754|208811|209246|209714|210044|210063|210326|211422|211689|211730|213553|214682|215077|215169|215234"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L02BA03"], "medic_earliest_approval_date": "20020425", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:525f3555-0dbd-56cf-8350-c9ec4a38f372", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006249"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@@H]3c4ccc(O)cc4C[C@@H](CCCCCCCCC[S+]([O-])CCCC(F)(F)C(F)(F)F)[C@H]3[C@@H]1CC[C@@H]2O", "name": "fulvestrant", "provided_by": ["infores:medic"], "synonym": ["FULVESTRANT", "Fluvestrant 250mg/5ml Injection(Additional Dosage Regime)", "Fulvestrant", "Fulvestrant Injection", "fulvestrant"], "xref": ["CHEMBL.COMPOUND:CHEMBL1358", "DRUGBANK:DB00947", "DrugCentral:1255", "GTOPDB:1015", "PHAROS:D7416FK94ZF1", "PUBCHEM.COMPOUND:104741", "UNII:22X328QOC4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31639", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960702", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:34e98eeb-668b-551b-a4fd-2bc8203607b5", "medic_reliability": "LOW", "name": "Fungichromin", "provided_by": ["infores:medic"], "synonym": ["Lamosin Tablets", "拉莫三嗪片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31644", "medic_application_numbers": ["020937|020975|020976"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["V08CA06"], "medic_earliest_approval_date": "19991208", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:65a4a71c-f2f3-53cb-8c81-90c17f768c04", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001897/10"], "medic_reliability": "HIGH", "name": "gadoversetamide", "provided_by": ["infores:medic"], "synonym": ["GADOVERSETAMIDE", "Gadoversetamide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31647", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19960124", "medic_mention_id": "MEDICNE:e50cdd2a-dffd-5b6a-ac9f-568d2a338ac9", "medic_reliability": "MEDIUM", "name": "gemcitabine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Gemcitabine Hcl 200mg/1000mg Injection", "Gemcitabine Hydrochloride for Injection", "Gemcitabine Hydrochloride for injection 2g/vial (New dosage form)", "注射用盐酸吉西他滨"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31654", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_earliest_approval_date": "19910726", "medic_mention_id": "MEDICNE:07420320-2b84-5a19-8e97-df8f5427aef1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002218"], "medic_reliability": "HIGH", "name": "gliclazide", "provided_by": ["infores:medic"], "synonym": ["Gliclazide", "Gliclazide 30mg Modified Release Tablet", "Gliclazide Extended-Release Tablets", "Gliclazide Tablets", "Gliclazide Tablets (II)"], "xref": ["CHEMBL.COMPOUND:CHEMBL427216", "DRUGBANK:DB01120", "DrugCentral:1299", "PHAROS:46V56M7G1RSU", "PUBCHEM.COMPOUND:3475"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31669", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:c3e4011a-0878-5b66-8934-81577a614b6b", "medic_registration_numbers": ["MOH_RUSSIA:64/228/246"], "medic_reliability": "MEDIUM", "name": "hexestrol", "provided_by": ["infores:medic"], "synonym": ["Hexestrol", "Гексэстрол"], "xref": ["GTOPDB:2823", "PHAROS:G6ZM9NDH92GK", "PUBCHEM.COMPOUND:3606"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31675", "medic_application_numbers": ["020453"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:90aafa23-219b-5905-ba10-a8fb8e5d7569", "medic_reliability": "HIGH", "name": "Hydrocortisone butyrate propionate", "provided_by": ["infores:medic"], "synonym": ["HYDROCORTISONE PROBUTATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31684", "medic_mention_id": "MEDICNE:8f21ce9f-25c4-51ea-ac60-2a0c799d12b8", "medic_reliability": "EXCLUDED", "name": "Ibudilast", "provided_by": ["infores:medic"], "synonym": ["Ibudilast"], "xref": ["CHEMBL.COMPOUND:CHEMBL19449", "DRUGBANK:DB05266", "GTOPDB:7399", "PHAROS:LKDZKNG3A4N3", "PUBCHEM.COMPOUND:3671"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31686", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200721", "medic_mention_id": "MEDICNE:a7e43564-e731-5395-b834-da54d3e9dbf2", "medic_reliability": "MEDIUM", "name": "Idarubicin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Idarubicin Hydrochloride for Injection", "注射用盐酸伊达比星"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31687", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_atc_codes": ["N06BX13"], "medic_earliest_approval_date": "20080123", "medic_mention_id": "MEDICNE:b00454cc-208d-5873-881a-49b73c03d977", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000058"], "medic_reliability": "HIGH", "medic_smiles": "COC1=C(OC)C(=O)C(CCCCCCCCCCO)=C(C)C1=O", "name": "idebenone", "provided_by": ["infores:medic"], "synonym": ["Idebenone", "idebenone"], "xref": ["CHEMBL.COMPOUND:CHEMBL252556", "DRUGBANK:DB09081", "PHAROS:1UY851FM8LZR", "PUBCHEM.COMPOUND:3686"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31689", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20120629", "medic_mention_id": "MEDICNE:18163295-166c-5956-98fa-f5c497a36ce7", "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)Nc1cc2occ(NC=O)c(=O)c2cc1Oc1ccccc1", "name": "Iguratimod", "provided_by": ["infores:medic"], "synonym": ["IGURATIMOD", "Iguratimod film coated tablets 25mg and Iguratimod Bulk"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31690", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan"], "medic_earliest_approval_date": "20020417", "medic_mention_id": "MEDICNE:a3da5e47-97b9-501e-a49f-346ae32dacac", "medic_reliability": "MEDIUM", "name": "imatinib methanesulfonate", "provided_by": ["infores:medic"], "synonym": ["IMATINIB MESILATE", "Imatinib Mesylate Capsules", "Imatinib Mesylate Tablets", "Imatinib mesylate 100 mg/400mg Tablets (Additional Indication)", "Imatinib mesylate 100 mg/400mg Tablets and 100mg Capsules (Additional Indication)", "甲磺酸伊马替尼片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31691", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210413", "medic_mention_id": "MEDICNE:bf04df9e-01dd-5dd4-ae8c-7df226ce9a40", "medic_reliability": "LOW", "name": "Imidapril hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Midapril Hydrochloride Tablets", "盐酸咪达普利片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31695", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120311", "medic_mention_id": "MEDICNE:bf48b064-92cd-5145-9344-6fe315f36063", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001579"], "medic_reliability": "MEDIUM", "name": "indigo carmine", "provided_by": ["infores:medic"], "synonym": ["Indigocarmine", "Индигокармин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31696", "medic_application_numbers": ["011525|040811|211580"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["V04CX01"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e8c94d7e-7175-5a2f-81fe-6d0c9d8f64b6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001963"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)C(/C=C/C=C/C=C/C=C2\\N(CCCCS(=O)(=O)O)c3ccc4ccccc4c3C2(C)C)=[N+](CCCCS(=O)(=O)[O-])c2ccc3ccccc3c21", "name": "indocyanine green", "provided_by": ["infores:medic"], "synonym": ["INDOCYANINE GREEN", "Indocyanine Green", "Indocyanine Green for Injection"], "xref": ["UNII:C4V974V932"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31700", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["V08AC05"], "medic_earliest_approval_date": "19610101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:3f03e64f-3b5f-54b9-a71b-e9fdbb420014", "medic_reliability": "HIGH", "medic_smiles": "Nc1c(I)cc(I)c(C(=O)N(CCC(=O)O)c2ccccc2)c1I", "name": "Iobenzamic acid", "provided_by": ["infores:medic"], "synonym": ["Iobenzamic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31701", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["V08AB11"], "medic_earliest_approval_date": "20060303", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:725dbf81-8dfa-5f7b-829d-2d8850f96bf4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007126)-(РГ-RU)"], "medic_reliability": "LOW", "medic_smiles": "CN(CC(O)CO)C(=O)c1c(I)c(NC(=O)C(CO)CO)c(I)c(C(=O)N(C)CC(O)CO)c1I", "name": "iobitridol", "provided_by": ["infores:medic"], "synonym": ["Yobitridol", "Йобитридол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31703", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["V08AA03"], "medic_earliest_approval_date": "19610101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:c4e1716d-fd1a-5315-be82-e064cafe31e0", "medic_reliability": "MEDIUM", "medic_smiles": "CC(=O)NCc1c(I)c(NC(C)=O)c(I)c(C(=O)O)c1I", "name": "iodamide", "provided_by": ["infores:medic"], "synonym": ["Iodamide 300/350"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31705", "medic_application_numbers": ["020351|020808|214271"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["V08AB09"], "medic_earliest_approval_date": "19960322", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b047fa4-41c0-556a-9dc0-2236c5611438", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002413"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N(CC(O)CN(C(C)=O)c1c(I)c(C(=O)NCC(O)CO)c(I)c(C(=O)NCC(O)CO)c1I)c1c(I)c(C(=O)NCC(O)CO)c(I)c(C(=O)NCC(O)CO)c1I", "name": "iodixanol", "provided_by": ["infores:medic"], "synonym": ["IODIXANOL", "Iodixanol", "Iodixanol Injection"], "xref": ["UNII:HW8W27HTXX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31708", "medic_application_numbers": ["019432"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19871224", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a2b264fc-68f0-5e12-9e88-a327b8c118c3", "medic_reliability": "HIGH", "name": "Iofetamine hydrochloride I 123", "provided_by": ["infores:medic"], "synonym": ["IOFETAMINE HYDROCHLORIDE I-123"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31709", "medic_application_numbers": ["018956|020608|205383|217737"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AB02"], "medic_earliest_approval_date": "19851226", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4369bf47-1b84-5a6c-b1c4-2a5ba9828720", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N(CC(O)CO)c1c(I)c(C(=O)NCC(O)CO)c(I)c(C(=O)NCC(O)CO)c1I", "name": "iohexol", "provided_by": ["infores:medic"], "synonym": ["IOHEXOL"], "xref": ["UNII:4419T9MX03"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31710", "medic_application_numbers": ["216016|216017"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["V08AB10"], "medic_earliest_approval_date": "20080520", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a162c3fc-6792-53b6-b0f1-fadb4a539616", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001939"], "medic_reliability": "HIGH", "medic_smiles": "CN(C(=O)CO)c1c(I)c(C(=O)NCC(O)CO)c(I)c(C(=O)NCC(O)CO)c1I", "name": "iomeprol", "provided_by": ["infores:medic"], "synonym": ["IOMEPROL", "Yomeprol"], "xref": ["UNII:17E17JBP8L"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31711", "medic_application_numbers": ["018735|020327|074629|074636|074637|074638|074679|074734|074881|074898|075005|090394|215382|217134"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["V08AB04"], "medic_earliest_approval_date": "19851231", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9b065255-b94e-55b1-a852-bc7b59ede9cf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000825"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](O)C(=O)Nc1c(I)c(C(=O)NC(CO)CO)c(I)c(C(=O)NC(CO)CO)c1I", "name": "iopamidol", "provided_by": ["infores:medic"], "synonym": ["IOPAMIDOL", "Iopamidol"], "xref": ["UNII:JR13W81H44"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31713", "medic_application_numbers": ["013319|014295|017685"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:034258c8-f25e-57da-bb79-1fe263fc9534", "medic_reliability": "HIGH", "name": "Iotalamic acid", "provided_by": ["infores:medic"], "synonym": ["IOTHALAMATE SODIUM"], "xref": ["UNII:16CHD79MIX"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31714", "medic_application_numbers": ["013295|016983|017057"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c222f578-2b02-55f1-82f0-216c1fc1d921", "medic_reliability": "HIGH", "medic_smiles": "CNC(=O)c1c([125I])c(NC(C)=O)c([125I])c(C(=O)[O-])c1[125I].[Na+]", "name": "Iothalamate meglumine", "provided_by": ["infores:medic"], "synonym": ["IOTHALAMATE MEGLUMINE", "IOTHALAMATE MEGLUMINE; IOTHALAMATE SODIUM", "Meglumine Iothalamate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31715", "medic_application_numbers": ["019580"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AB06"], "medic_earliest_approval_date": "19891207", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:58b2ca34-0225-5b5a-8767-2dfbad2f8c98", "medic_reliability": "HIGH", "medic_smiles": "CN(C(=O)CC(=O)N(C)c1c(I)c(C(=O)NC(CO)C(O)CO)c(I)c(C(=O)NC(CO)C(O)CO)c1I)c1c(I)c(C(=O)NC(CO)C(O)CO)c(I)c(C(=O)NC(CO)C(O)CO)c1I", "name": "Iotrolan", "provided_by": ["infores:medic"], "synonym": ["IOTROLAN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31717", "medic_application_numbers": ["019710|020923"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["V08AB07"], "medic_earliest_approval_date": "19881230", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:504152d5-3020-58a2-a911-a569b608f66e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006365"], "medic_reliability": "HIGH", "medic_smiles": "O=C(NCC(O)CO)c1c(I)c(C(=O)NCC(O)CO)c(I)c(N(CCO)C(=O)CO)c1I", "name": "Ioversol", "provided_by": ["infores:medic"], "synonym": ["IOVERSOL", "Ioversol 160/240/300/320/350 Injection", "Yoversol"], "xref": ["UNII:N3RIB7X24K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3172", "medic_application_numbers": ["017954|019005|019008|019030|019033|019121|019837|070119|070134|070545|070546|070891|071151|071152|071153|071298|204386"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0182a6a0-abd6-5122-bd08-794f424a18fe", "medic_reliability": "HIGH", "name": "bretylium", "provided_by": ["infores:medic"], "synonym": ["BRETYLIUM TOSYLATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1199080", "DrugCentral:394", "PHAROS:LK4V1U24SZNY", "PUBCHEM.COMPOUND:2431", "UNII:RZR75EQ2KJ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31731", "medic_application_numbers": ["021214"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000803", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3642eefe-2a0e-5c7b-acb3-e3108f8ecc31", "medic_reliability": "LOW", "medic_smiles": "CCCCCCCC(=O)CC[C@@H]1[C@@H](C/C=C\\CCCC(=O)OC(C)C)[C@@H](O)C[C@H]1O", "name": "isopropyl unoprostone", "provided_by": ["infores:medic"], "synonym": ["UNOPROSTONE ISOPROPYL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31735", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:844a37ef-5690-53fa-89a3-71026742aa61", "medic_reliability": "MEDIUM", "name": "Isoxsuprine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Isoxsuprine Hydrochloride 40mg Sustained Release Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31739", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01FA07"], "medic_earliest_approval_date": "20060602", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:fd051472-54ef-577b-adf8-99d14cf8cbe2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004305"], "medic_reliability": "MEDIUM", "medic_smiles": "CO[C@@H]1[C@@H](O[C@@H]2O[C@H](C)[C@@H](O[C@H]3C[C@@](C)(O)[C@@H](OC(=O)CC(C)C)[C@H](C)O3)[C@H](N(C)C)[C@H]2O)[C@@H](CC=O)C[C@@H](C)[C@@H](O)/C=C/C=C/C[C@@H](C)OC(=O)C[C@H]1OC(C)=O", "name": "josamycin", "provided_by": ["infores:medic"], "synonym": ["Josamycin", "Джозамицин"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3175", "medic_application_numbers": ["020490|020613|021262|021764|021770|076254|076260|076372|076439|078075|078479|078480|091691|203172|204708|208144|208992|209158|213215|215225|216361|216772|216906|216909|217599|217846|218424|219219"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19960906", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:8b4b3730-5c3b-58ff-a331-a724305253b8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006169"], "medic_reliability": "HIGH", "medic_smiles": "Brc1c(NC2=NCCN2)ccc2nccnc12.O=C(O)[C@H](O)[C@@H](O)C(=O)O", "name": "brimonidine", "provided_by": ["infores:medic"], "synonym": ["BRIMONIDINE TARTRATE", "BRIMONIDINE TARTRATE; BRINZOLAMIDE", "BRIMONIDINE TARTRATE; CARBACHOL", "BRIMONIDINE TARTRATE; TIMOLOL MALEATE", "Brimonidine", "Brimonidine + Brinzolamide", "Brimonidine + Timolol", "Brimonidine topical gel 0.33% (Add. Dosage form/indication)", "brimonidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL844", "DRUGBANK:DB00484", "DrugCentral:395", "PHAROS:T29J7YXUKR9A", "PUBCHEM.COMPOUND:2435", "UNII:E6GNX3HHTE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31750", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20000505", "medic_mention_id": "MEDICNE:c9e78f9a-2814-5539-8c2e-fadbbc8eceeb", "medic_reliability": "MEDIUM", "name": "ketotifen fumarate", "provided_by": ["infores:medic"], "synonym": ["Ketotifen Fumarate Tablets", "Ketotifen Fumerate 0.25mg/ml Eye Drops", "富马酸酮替芬片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31759", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_atc_codes": ["A02BA08"], "medic_earliest_approval_date": "20091111", "medic_mention_id": "MEDICNE:13aef68e-050e-5944-89cd-fc69db88e83a", "medic_reliability": "HIGH", "medic_smiles": "O=C(C[S+]([O-])Cc1ccco1)NC/C=C\\COc1cc(CN2CCCCC2)ccn1", "name": "Lafutidine", "provided_by": ["infores:medic"], "synonym": ["LAFUTIDINE", "Lafutidine", "Lafutidine Tablets ....5mg/10mg."], "xref": ["DRUGBANK:DB12770"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3176", "medic_application_numbers": ["020816|204884|209406|211914"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["S01EC04", "S01EC54"], "medic_earliest_approval_date": "19980401", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cef30bf2-1955-5ed8-b675-dcc7ef52be25", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003866"], "medic_reliability": "HIGH", "medic_smiles": "CCN[C@H]1CN(CCCOC)S(=O)(=O)c2sc(S(N)(=O)=O)cc21", "name": "brinzolamide", "provided_by": ["infores:medic"], "synonym": ["BRINZOLAMIDE", "Brinzolamide", "Brinzolamide + Timolol", "Brinzolamide Ophthalmic Suspension 1%w/v", "brinzolamide", "brinzolamide;brimonidine tartrate", "brinzolamide;timolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL220491", "DRUGBANK:DB01194", "DrugCentral:396", "GTOPDB:6797", "PHAROS:W8N9SP74NK2L", "PUBCHEM.COMPOUND:68844", "UNII:9451Z89515"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31765", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090114", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:02405a2c-b805-5aac-b7c5-918956a96caa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012678)-(РГ-RU)"], "medic_reliability": "LOW", "name": "Laureth 4", "provided_by": ["infores:medic"], "synonym": ["Lauromacrogol-400", "Лауромакрогол-400"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31781", "medic_application_numbers": ["021226|021251|021906|079074|091677|204739|207407|213857|214696"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20000915", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:49dd96ae-8fdf-5a59-a58d-cc4f34ec5e85", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000574"], "medic_reliability": "HIGH", "medic_smiles": "Cc1cccc(C)c1OCC(=O)N[C@@H](Cc1ccccc1)[C@@H](O)C[C@H](Cc1ccccc1)NC(=O)[C@H](C(C)C)N1CCCNC1=O", "name": "lopinavir", "provided_by": ["infores:medic"], "synonym": ["LOPINAVIR", "LOPINAVIR; RITONAVIR", "Lopinavir", "Lopinavir + Ritonavir (100 + 25mg) Tablets (additional strength)", "lopinavir;ritonavir"], "xref": ["CHEMBL.COMPOUND:CHEMBL729", "DRUGBANK:DB01601", "PHAROS:HKBAZ6KMX2M4", "PUBCHEM.COMPOUND:92727", "UNII:2494G1JF75"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31783", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["M01AC05"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:79ee3d0b-5289-5970-bc0f-a2a92cd83698", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003020"], "medic_reliability": "HIGH", "medic_smiles": "CN1C(C(=O)Nc2ccccn2)=C(O)c2sc(Cl)cc2S1(=O)=O", "name": "lornoxicam", "provided_by": ["infores:medic"], "synonym": ["Lornoxicam", "Lornoxicam 12 mg SR (additional strength)", "Lornoxicam 4mg + Paracetamol 500mg film coated tablets", "Lornoxicam ER Tablet 8 mg (Additional Strength)", "Lornoxicam tablet 4mg/ 8mg", "Лорноксикам"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31784", "medic_application_numbers": ["020583|020803|020841|200738|202872|207609|208219|210565|210933|212080|212450|213956|215203|215204|215384|215550|215719|215933|216345|217484|218087"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19980309", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:57abf4c8-8486-5d6e-833c-9fe4d1cb47ab", "medic_reliability": "HIGH", "name": "loteprednol etabonate", "provided_by": ["infores:medic"], "synonym": ["LOTEPREDNOL ETABONATE", "LOTEPREDNOL ETABONATE; TOBRAMYCIN", "Loteprednol Etabonate (0.5%) + Levofloxacin (1.5%) Eye drops.", "Loteprednol Etabonate Nasal spray 0.1% w/v"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200865", "DrugCentral:1611", "PHAROS:UV6VMJYUSXYX", "PUBCHEM.COMPOUND:444025", "UNII:YEH1EZ96K6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31786", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240805", "medic_mention_id": "MEDICNE:026363c4-5d48-513d-bea3-d28a24fb1329", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006440)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "loxoprofen sodium hydrate", "provided_by": ["infores:medic"], "synonym": ["Loxoprofen", "Локсопрофен"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31790", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["G03AC02", "G03DC03"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:befc9e18-7d2a-50b5-9fc5-d02394cfcc94", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003446)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C#C[C@]1(O)CC[C@H]2[C@@H]3CCC4=CCCC[C@@H]4[C@H]3CC[C@@]21C", "name": "Lynestrenol", "provided_by": ["infores:medic"], "synonym": ["Linestrenol", "Lynestrenol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31793", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20081110", "medic_mention_id": "MEDICNE:37ff8f99-0cfc-5514-93a2-82053a1a3b1c", "medic_registration_numbers": ["MOH_RUSSIA:Р N002500/01"], "medic_reliability": "HIGH", "name": "magnesium carbonate", "provided_by": ["infores:medic"], "synonym": ["MAGNESIUM CARBONATE", "Magnesium carbonate"], "xref": ["DRUGBANK:DB09481"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31794", "medic_application_numbers": ["202535|209589|212789"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A02AA02", "A06AD02", "A12CC10"], "medic_earliest_approval_date": "19820622", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ea371bce-7241-508e-af01-768107789727", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-000795/09"], "medic_reliability": "HIGH", "medic_smiles": "O=[Mg]", "name": "magnesium oxide", "provided_by": ["infores:medic"], "synonym": ["CITRIC ACID; MAGNESIUM OXIDE; SODIUM CARBONATE", "CITRIC ACID; MAGNESIUM OXIDE; SODIUM PICOSULFATE", "MAGNESIUM OXIDE", "Magnesium oxide"], "xref": ["DRUGBANK:DB01377", "UNII:3A3U0GI71G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31795", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20141023", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:fdedc332-223d-5f40-9cc1-555b8a162132", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002672"], "medic_reliability": "MEDIUM", "name": "magnesium sulfate heptahydrate", "provided_by": ["infores:medic"], "synonym": ["magnesium sulfate heptahydrate", "магния сульфата гептагидрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31797", "medic_application_numbers": ["019596|021037"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["V08CA01"], "medic_earliest_approval_date": "19880602", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8e3f120c-b9a2-5e72-abea-b40b6d121e36", "medic_reliability": "HIGH", "name": "gadopentetate dimeglumine", "provided_by": ["infores:medic"], "synonym": ["GADOPENTETATE DIMEGLUMINE", "Gadopentetic acid dimeglumine salt injection 469mg/1ml (0.5mmol) (Additional indication)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31801", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20081125", "medic_mention_id": "MEDICNE:55217f46-e17b-59d8-ab6c-60bec4717a76", "medic_reliability": "HIGH", "medic_smiles": "C=C1/C(=C\\C=C2/CCC[C@]3(C)[C@@H]([C@H](C)OCCC(C)(C)O)CC[C@@H]23)C[C@@H](O)C[C@@H]1O", "name": "Maxacalcitol", "provided_by": ["infores:medic"], "synonym": ["MAXACALCITOL"], "xref": ["CHEMBL.COMPOUND:CHEMBL333950", "GTOPDB:2784", "PHAROS:ZUSMMHDJ85CU", "PUBCHEM.COMPOUND:6398761"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31804", "medic_application_numbers": ["017374"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05BC04"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:54c214b8-b4f4-5c7e-9662-b26d724a3180", "medic_reliability": "HIGH", "medic_smiles": "CCC(C)C(C)(COC(N)=O)COC(N)=O", "name": "Mebutamate", "provided_by": ["infores:medic"], "synonym": ["MEBUTAMATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31807", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N05BA03"], "medic_earliest_approval_date": "20060922", "medic_mention_id": "MEDICNE:e6fafcf5-1b38-5637-a17c-efc9865bedb9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011726)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "CN1CCN=C(c2ccccc2)c2cc(Cl)ccc21", "name": "Medazepam", "provided_by": ["infores:medic"], "synonym": ["Medazepam", "Медазепам"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3181", "medic_application_numbers": ["017962|020866|074631|075100|076962|077226|077646|078899"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2382669b-3948-516c-aa37-bca8e489f562", "medic_registration_numbers": ["MOH_RUSSIA:93/250/4"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C[C@H]1C(=O)N2CCC[C@H]2[C@]2(O)O[C@](NC(=O)[C@@H]3C=C4c5cccc6[nH]c(Br)c(c56)C[C@H]4N(C)C3)(C(C)C)C(=O)N12.CS(=O)(=O)O", "name": "bromocriptine", "provided_by": ["infores:medic"], "synonym": ["BROMOCRIPTINE MESYLATE", "Bromocriptine", "Bromocriptine [alpha, beta]"], "xref": ["CHEMBL.COMPOUND:CHEMBL493", "DRUGBANK:DB01200", "DrugCentral:403", "GTOPDB:35", "PHAROS:33C4C16F7NQF", "PUBCHEM.COMPOUND:31101", "UNII:3A64E3G5ZO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3182", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19950804", "medic_mention_id": "MEDICNE:cfa40fb4-f4cb-5753-b589-2887574cfc17", "medic_reliability": "MEDIUM", "name": "bromocriptine methanesulfonate", "provided_by": ["infores:medic"], "synonym": ["Bromocriptine Mesylate Tablet IP 0.8mg, (additional Indication)", "Bromocriptine Mesylate Tablets", "甲磺酸溴隐亭片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31824", "medic_application_numbers": ["019884|020855|075739|075764|075811|076488|090913|203364|206992|218871|220518"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "usa"], "medic_atc_codes": ["R05CB05", "V03AF01"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bfe888f8-b71e-53a4-a081-f4a8df262789", "medic_reliability": "HIGH", "medic_smiles": "O=S(=O)([O-])CCS.[Na+]", "name": "Mesna", "provided_by": ["infores:medic"], "synonym": ["MESNA", "Mesna (Sodium-2-Mercapto- Ethane Sulphonate)", "Mesna Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31827", "medic_application_numbers": ["008322"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N03AA30"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:379c1082-33bd-5097-a6c1-8488cdb92ebd", "medic_reliability": "HIGH", "medic_smiles": "CCC1(CC)C(=O)NC(=O)N(C)C1=O", "name": "Metharbital", "provided_by": ["infores:medic"], "synonym": ["METHARBITAL"], "xref": ["CHEMBL.COMPOUND:CHEMBL450", "DrugCentral:1740", "PHAROS:C9RWQSVYDPLA", "PUBCHEM.COMPOUND:4099", "UNII:02OS7K758T"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3183", "medic_application_numbers": ["010799|011418|083123|083215|083820|083821|084351|084468|085466|085769|085850|086187|086936|086987|087009|087517|087964|088604"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dab96efc-65a4-5460-84fa-b3be5ecb850d", "medic_reliability": "HIGH", "name": "brompheniramine", "provided_by": ["infores:medic"], "synonym": ["BROMPHENIRAMINE MALEATE", "BROMPHENIRAMINE MALEATE; DEXTROMETHORPHAN HYDROBROMIDE; PSEUDOEPHEDRINE HYDROCHLORIDE", "BROMPHENIRAMINE MALEATE; PSEUDOEPHEDRINE HYDROCHLORIDE", "Bromfeniramine Tablets", "Brompheniramine"], "xref": ["CHEMBL.COMPOUND:CHEMBL811", "DRUGBANK:DB00835", "DrugCentral:408", "PHAROS:24ARYZW668CL", "PUBCHEM.COMPOUND:6834", "UNII:H57G17P2FN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31837", "medic_application_numbers": ["009660"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05CE02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:27cf1cf7-5b3e-559d-a77d-be5fdb91f75c", "medic_reliability": "HIGH", "medic_smiles": "CCC1(CC)C(=O)NCC(C)C1=O", "name": "Methyprylon", "provided_by": ["infores:medic"], "synonym": ["METHYPRYLON"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200790", "DrugCentral:1774", "PHAROS:7ADL4WJX6Q54", "PUBCHEM.COMPOUND:4162", "UNII:CUT48I42ON"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31841", "medic_application_numbers": ["017982"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["V08AB01"], "medic_earliest_approval_date": "19810101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4e39ffcf-42e0-5472-8d77-caa8a5d21eea", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1c(I)c(C(=O)N[C@H]2C(O)O[C@H](CO)[C@@H](O)[C@@H]2O)c(I)c(N(C)C(C)=O)c1I", "name": "Metrizamide", "provided_by": ["infores:medic"], "synonym": ["METRIZAMIDE", "Metrizamide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31845", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090129", "medic_mention_id": "MEDICNE:3fd67e35-7a23-5ada-bc64-755b36eaa6fe", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000390)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Midecamycin", "provided_by": ["infores:medic"], "synonym": ["Midecamycin", "Мидекамицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31847", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19981208", "medic_mention_id": "MEDICNE:d07b5acf-10bf-523d-96eb-2298a5d40834", "medic_reliability": "MEDIUM", "name": "midodrine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Midodrine Hydrochloride 2.5 mg", "Midodrine Hydrochloride Tablets", "Midodrine hydrochloride bulk drug", "盐酸米多君片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31856", "medic_application_numbers": ["050109"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5b7a0f86-f338-58a6-b7cf-84b717405e5b", "medic_reliability": "HIGH", "medic_smiles": "CO[C@H](C(=O)[C@@H](O)[C@@H](C)O)[C@@H]1Cc2cc3cc(O[C@H]4C[C@@H](O[C@H]5C[C@@H](O)[C@H](O)[C@@H](C)O5)[C@H](O)[C@@H](C)O4)c(C)c(O)c3c(O)c2C(=O)[C@H]1O[C@H]1C[C@@H](O[C@H]2C[C@@H](O[C@H]3C[C@](C)(O)[C@H](O)[C@@H](C)O3)[C@@H](O)[C@@H](C)O2)[C@H](O)[C@@H](C)O1", "name": "mithramycin", "provided_by": ["infores:medic"], "synonym": ["PLICAMYCIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31857", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_atc_codes": ["R06AX25"], "medic_earliest_approval_date": "20010309", "medic_mention_id": "MEDICNE:5c5f6331-2cc5-57dc-b305-68dd466414e7", "medic_reliability": "HIGH", "medic_smiles": "CN(c1nccc(=O)[nH]1)C1CCN(c2nc3ccccc3n2Cc2ccc(F)cc2)CC1", "name": "Mizolastine", "provided_by": ["infores:medic"], "synonym": ["Mizolastine", "Mizolastine Extended-Release Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL94454", "DRUGBANK:DB12523", "DrugCentral:1824", "GTOPDB:10102", "PHAROS:STJQJDUR9UZN", "PUBCHEM.COMPOUND:65906", "UNII:244O1F90NA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31859", "medic_application_numbers": ["020717|076594|076715|077667|078963|090543|202566|202700|207196|209966"], "medic_approved_authorities": ["FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "usa"], "medic_atc_codes": ["N06BA07"], "medic_earliest_approval_date": "19981224", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d0a420d3-175a-5543-8226-2d46dc27488e", "medic_reliability": "HIGH", "medic_smiles": "NC(=O)C[S+]([O-])C(c1ccccc1)c1ccccc1", "name": "modafinil", "provided_by": ["infores:medic"], "synonym": ["MODAFINIL", "Modafinil", "Modafinil Capsules"], "xref": ["CHEMBL.COMPOUND:CHEMBL1373", "DRUGBANK:DB00745", "DrugCentral:1826", "GTOPDB:7555", "PHAROS:YGTWG9L297D7", "PUBCHEM.COMPOUND:4236", "UNII:R3UK8X3U3D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31861", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C01DX12"], "medic_earliest_approval_date": "20060331", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:cff31a07-77e7-50b3-a451-8695cbcf0941", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007311"], "medic_reliability": "MEDIUM", "medic_smiles": "CCOC(=O)[N-]c1c[n+](N2CCOCC2)no1", "name": "molsidomine", "provided_by": ["infores:medic"], "synonym": ["Molsidomin", "Молсидомин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31892", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210810", "medic_mention_id": "MEDICNE:792eb3fd-927c-5231-b431-7bea66428ac4", "medic_reliability": "MEDIUM", "name": "naloxone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Naloxone Hydrochloride Injection", "盐酸纳洛酮注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31897", "medic_application_numbers": ["021204|077461|077462|077463|077467|205055|205248|205544|206432"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A10BX03"], "medic_earliest_approval_date": "20001222", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c4bf20e0-5a51-58c8-95b7-961cbb84dd9a", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-004201/08"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)[C@H]1CC[C@H](C(=O)N[C@H](Cc2ccccc2)C(=O)O)CC1", "name": "nateglinide", "provided_by": ["infores:medic"], "synonym": ["NATEGLINIDE", "Nateglinide"], "xref": ["CHEMBL.COMPOUND:CHEMBL249263", "DRUGBANK:DB00731", "DrugCentral:1886", "PHAROS:XXMQZVBR5RUJ", "UNII:41X3PWK4O2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31902", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C04AE02"], "medic_earliest_approval_date": "20050715", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:b46a0b46-5099-524f-9e60-5267b0e8871e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001811"], "medic_reliability": "MEDIUM", "medic_smiles": "CO[C@]12C[C@@H](COC(=O)c3cncc(Br)c3)CN(C)[C@@H]1Cc1cn(C)c3cccc2c13", "name": "Nicergoline", "provided_by": ["infores:medic"], "synonym": ["Nicergoline", "Ницерголин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31905", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C01DX16"], "medic_earliest_approval_date": "19990326", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:1f7ec36b-a0b9-5f61-afde-c64a43a38629", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005708"], "medic_reliability": "HIGH", "medic_smiles": "O=C(NCCO[N+](=O)[O-])c1cccnc1", "name": "nicorandil", "provided_by": ["infores:medic"], "synonym": ["Nicorandil", "Nicorandil 2mg/12mg/48mg i.v Injection"], "xref": ["DRUGBANK:DB09220"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31932", "medic_application_numbers": ["021286|078276|090237|091079|202375|203012|203281|204798|204814|205192|205482|205499|206227|206372|206631|206720|206763|207135|207480|207662|208130|208659|210552|210682|211049|217399"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["C09CA08"], "medic_earliest_approval_date": "20020425", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:16dd974e-1b47-55f7-b74b-56c467ab19f2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002160"], "medic_reliability": "HIGH", "medic_smiles": "CCCc1nc(C(C)(C)O)c(C(=O)OCc2oc(=O)oc2C)n1Cc1ccc(-c2ccccc2-c2nnn[nH]2)cc1", "name": "Olmesartan medoxomil", "provided_by": ["infores:medic"], "synonym": ["Amlodipine + Olmesartan medoxomil", "Hydrochlorothiazide + Olmesartan medoxomil", "OLMESARTAN MEDOXOMIL", "Olmesartan Medoxomil (20mg) + Amlodipine Besylate (5mg) Tablet.", "Olmesartan Medoxomil Orally Disintegrating Tablets", "Olmesartan Medoxomil Tablets", "Olmesartan Medoxomil and Amlodipine Tablets", "Olmesartan Medoxomil and Hydrochlorothiazide Tablets", "Olmesartan medoxomil", "Олмесартан медоксомил"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31933", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_atc_codes": ["R01AC08", "S01GX09"], "medic_earliest_approval_date": "20020613", "medic_mention_id": "MEDICNE:d4df3a65-f05a-5339-a19e-de3596f94ab6", "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)CC/C=C1/c2ccccc2COc2ccc(CC(=O)O)cc21", "name": "Olopatadine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Olopatadine Hydrochloride Eye Drops", "Olopatadine Hydrochloride Granules", "Olopatadine Hydrochloride Tablets", "盐酸奥洛他定滴眼液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31934", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20030423", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:c37ba7a4-b165-53b5-aaff-7bb0546938d4", "medic_reliability": "MEDIUM", "name": "Omeprazole sodium", "provided_by": ["infores:medic"], "synonym": ["Omeprazole Sodium for Injection", "Omeprazole Sodium for Injection (Intravenous Infusion)", "注射用奥美拉唑钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31938", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710714", "medic_mention_id": "MEDICNE:0cd73c80-3cf5-5ae8-81f2-45ce1a30ab4b", "medic_registration_numbers": ["MOH_RUSSIA:71/509/2"], "medic_reliability": "MEDIUM", "name": "Osalmid", "provided_by": ["infores:medic"], "synonym": ["Osalmid", "Осальмид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:31941", "medic_application_numbers": ["021492|021759|022160|078803|078810|078811|078812|078813|078815|078817|078818|078819|090030|090849|091358|200979|202922|203869|204368|204378|204616|204880|205529|207325|207385|207474|207562|208523|217348|217925|219765"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["L01XA03"], "medic_earliest_approval_date": "20020809", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:903d5aaa-f453-5b58-bf66-db69723d42ec", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000032"], "medic_reliability": "HIGH", "name": "oxaliplatin", "provided_by": ["infores:medic"], "synonym": ["OXALIPLATIN", "Oxaliplatin"], "xref": ["DRUGBANK:DB00526", "UNII:04ZR38536J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31964", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_atc_codes": ["J01MA18"], "medic_earliest_approval_date": "20220822", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:f109f713-ef66-5118-99e6-bc1a7c6b3489", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007109)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "C[C@H]1COc2c(C3(N)CC3)c(F)cc3c(=O)c(C(=O)O)cn1c23", "name": "Pazufloxacin", "provided_by": ["infores:medic"], "synonym": ["Pazufloxacin", "Pazufloxacin Mesylate and Sodium Chloride Injection", "Пазуфлоксацин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31970", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20211221", "medic_mention_id": "MEDICNE:53e9839d-a37a-57bc-b3b3-33270a69608d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007713"], "medic_reliability": "MEDIUM", "name": "Pelubiprofen", "provided_by": ["infores:medic"], "synonym": ["Pelubiprofen", "Пелубипрофен"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31974", "medic_application_numbers": ["017048"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V04CG04"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b1b78acd-7a88-5202-a758-5e0fea3b748d", "medic_reliability": "HIGH", "medic_smiles": "CSCC[C@H](NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)CCNC(=O)OC(C)(C)C)C(=O)N[C@@H](CC(=O)O)C(=O)N[C@@H](Cc1ccccc1)C(N)=O", "name": "Pentagastrin", "provided_by": ["infores:medic"], "synonym": ["PENTAGASTRIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL1328", "PHAROS:MCHUK69NZYKL", "PUBCHEM.COMPOUND:9853654", "UNII:EF0NX91490"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31975", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070817", "medic_mention_id": "MEDICNE:94427fd0-fe84-59af-992c-fcff25cbd15e", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-002248/07"], "medic_reliability": "MEDIUM", "name": "Pentetreotide", "provided_by": ["infores:medic"], "synonym": ["Pentetreotide", "Пентетреотид"], "xref": ["UNII:M312JJ6Z32"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:31981", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:7e5046e0-61a1-5f44-a5aa-2f237defb694", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003560"], "medic_reliability": "HIGH", "name": "periciazine", "provided_by": ["infores:medic"], "synonym": ["Periciazine", "Pericyazine", "Pericyazine 2.5mg & 10mg Tablets", "Перициазин"], "xref": ["DRUGBANK:DB01608", "GTOPDB:9216", "PHAROS:95SRLFPJQUAR", "PUBCHEM.COMPOUND:4747"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31984", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20100806", "medic_mention_id": "MEDICNE:51ad7d18-0198-58ae-897b-8e0893d4a780", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000652"], "medic_reliability": "MEDIUM", "name": "pethidine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dalargan", "Pethidine Hydrochloride Injection", "盐酸哌替啶注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:31992", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["M03BA01", "M03BA51", "M03BA71"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:bf467160-8c7e-5d96-a446-b582f17cf42d", "medic_reliability": "MEDIUM", "medic_smiles": "NC(=O)OCCCc1ccccc1", "name": "Phenprobamate", "provided_by": ["infores:medic"], "synonym": ["Phenprobamate 400mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32007", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:32569808-4b97-550b-8b4b-5d0ed8ab80ac", "medic_reliability": "MEDIUM", "name": "Piperidolate hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Piperidolate hydrochloride 50mg Capsule"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32010", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N06BX03"], "medic_earliest_approval_date": "19790427", "medic_mention_id": "MEDICNE:fc1a6b86-8901-5e84-89e2-0731a245f274", "medic_registration_numbers": ["MOH_RUSSIA:79/463/2"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)CN1CCCC1=O", "name": "Piracetam", "provided_by": ["infores:medic"], "synonym": ["Betahistine + Piracetam", "Piracetam", "Piracetam + Cinnarizine"], "xref": ["DRUGBANK:DB09210"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32013", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081212", "medic_mention_id": "MEDICNE:bd55e32d-11fe-572b-b684-ff140e24eb73", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008104)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Pirenoxine", "provided_by": ["infores:medic"], "synonym": ["Pirenoxin", "Пиреноксин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32016", "medic_application_numbers": ["022535|208780|212077|212078|212403|212404|212560|212569|212570|212596|212600|212674|212680|212687|212708|212709|212722|212724|212730|212731|212747|212748|212759|212772"], "medic_approved_authorities": ["EMA", "FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "usa"], "medic_atc_codes": ["L04AX05"], "medic_earliest_approval_date": "20081016", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b0d6bd3f-355b-59aa-9dde-e32de60a48f9", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(=O)n(-c2ccccc2)c1", "name": "pirfenidone", "provided_by": ["infores:medic"], "synonym": ["PIRFENIDONE", "Pirfenidone", "Pirfenidone Tablets", "pirfenidone"], "xref": ["DRUGBANK:DB04951", "UNII:D7NLD2JX7U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32019", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100427", "medic_mention_id": "MEDICNE:c128dacb-1549-59ae-ad5f-a3c7794204bc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000622"], "medic_reliability": "LOW", "name": "piromidic acid", "provided_by": ["infores:medic"], "synonym": ["Enterol®", "Энтерол®"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32020", "medic_application_numbers": ["022363|205932|205955|205961|205977|206015|206029|206047|206070"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20090803", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ae6b0656-3d0c-5b4a-9128-ba06cf59d5da", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002855"], "medic_reliability": "HIGH", "name": "pitavastatin", "provided_by": ["infores:medic"], "synonym": ["PITAVASTATIN CALCIUM", "PITAVASTATIN CALCIUM HYDRATE", "PITAVASTATIN MAGNESIUM", "PITAVASTATIN SODIUM", "Pitavastatin", "Pitavastatin + Ezetimibe", "Pitavastatin Tablet 4mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201753", "DRUGBANK:DB08860", "DrugCentral:2214", "GTOPDB:3035", "PHAROS:RTMTULW5J4AQ", "PUBCHEM.COMPOUND:5282452", "UNII:M5681Q5F9P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32026", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081022", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:1edf6d65-b1f9-58bf-87a0-5f31a5f124bc", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-007448/10"], "medic_reliability": "MEDIUM", "name": "Poloxamer", "provided_by": ["infores:medic"], "synonym": ["Poloxamer", "Полоксамер"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32029", "medic_application_numbers": ["018896|206203|212692|217515"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["B05XA17"], "medic_earliest_approval_date": "19840720", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7e4c8cbe-4393-55ce-8c5c-e97119eed1ac", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[O-].[K+]", "name": "potassium acetate", "provided_by": ["infores:medic"], "synonym": ["POTASSIUM ACETATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32030", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20150505", "medic_mention_id": "MEDICNE:93d2ee64-e27d-5865-a06d-41f29ec30c1e", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001081"], "medic_reliability": "MEDIUM", "medic_smiles": "[Br-].[K+]", "name": "potassium bromide", "provided_by": ["infores:medic"], "synonym": ["Potassium bromide", "Калия бромид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32034", "medic_application_numbers": ["208352"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A12BA03"], "medic_earliest_approval_date": "20200522", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:29f39db7-3954-5606-9edb-3860975aa297", "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])[C@H](O)[C@@H](O)C(=O)O.[K+]", "name": "potassium bitartrate", "provided_by": ["infores:medic"], "synonym": ["CITRIC ACID; LACTIC ACID; POTASSIUM BITARTRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32036", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210122", "medic_mention_id": "MEDICNE:2588b83c-9933-5928-9603-c8e58277758b", "medic_reliability": "HIGH", "medic_smiles": "O=S(=O)([O-])[O-].[K+].[K+]", "name": "potassium sulfate", "provided_by": ["infores:medic"], "synonym": ["POTASSIUM SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32038", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:60922eb6-2f46-525a-99c4-a72c1979a3fe", "medic_reliability": "HIGH", "name": "pralidoxime iodide", "provided_by": ["infores:medic"], "synonym": ["Pralidoxime Iodide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3205", "medic_application_numbers": ["010911"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["R06AE01", "R06AE51"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6cbd2c8b-e856-54b0-b858-4dfb6e56659d", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)c1ccc(CN2CCN(C(c3ccccc3)c3ccc(Cl)cc3)CC2)cc1", "name": "buclizine", "provided_by": ["infores:medic"], "synonym": ["BUCLIZINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201271", "DrugCentral:416", "PHAROS:5ADLGB71DN9B", "PUBCHEM.COMPOUND:6729", "UNII:0C94V6X681"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32064", "medic_application_numbers": ["009309"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AD03"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:aadec730-4ea9-5811-ae61-a07975710f87", "medic_reliability": "HIGH", "medic_smiles": "CCCOC(=O)Cn1cc(I)c(=O)c(I)c1", "name": "Propyliodone", "provided_by": ["infores:medic"], "synonym": ["PROPYLIODONE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32066", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["J04AD01"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:2f8ac369-9db8-50b1-ae80-da2883ffaeb9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002338"], "medic_reliability": "HIGH", "medic_smiles": "CCCc1cc(C(N)=S)ccn1", "name": "Prothionamide", "provided_by": ["infores:medic"], "synonym": ["Lomefloxacin + Pyrazinamide + Prothionamide + Ethambutol", "Lomefloxacin + Pyrazinamide + Prothionamide + Ethambutol + [Pyridoxine]", "Prothionamide", "Prothionamide 125mg Tablet", "Pyrazinamide + Prothionamide + Rifabutin + [Pyridoxine]"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3207", "medic_application_numbers": ["020233|020441|020746|020929|021324|021949|077519|078202|078404|078949|090379|090410|201966|203634|204548|205457|205613|205710|206134|206200|206623|206724|207367|208851|209041|210897|211922|211929|213976|215328|215935|216667"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["A07EA06", "D07AC09", "R01AD05", "R03BA02"], "medic_earliest_approval_date": "19940214", "medic_features": ["STEROID"], "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:83908de1-0325-58b7-8592-1c0e296c722d", "medic_registration_numbers": ["MOH_RUSSIA:95/212/1"], "medic_reliability": "HIGH", "medic_smiles": "CCCC1O[C@@H]2C[C@H]3[C@@H]4CCC5=CC(=O)C=C[C@]5(C)[C@H]4[C@@H](O)C[C@]3(C)[C@]2(C(=O)CO)O1", "name": "budesonide", "provided_by": ["infores:medic"], "synonym": ["BUDESONIDE", "BUDESONIDE; FORMOTEROL FUMARATE", "BUDESONIDE; FORMOTEROL FUMARATE DIHYDRATE", "BUDESONIDE; FORMOTEROL FUMARATE; GLYCOPYRROLATE", "Budesonide", "Budesonide + Formoterol", "Budesonide + Formoterol [Kit]", "Budesonide + Glycopyrronium Bromide + Formoterol", "Budesonide + Salbutamol", "Budesonide and Formoterol", "budesonide", "budesonide;formoterol", "budesonide;formoterol fumarate dihydrate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1370", "DRUGBANK:DB01222", "DrugCentral:419", "GTOPDB:7434", "PHAROS:XZGZ55TSFJQ7", "PUBCHEM.COMPOUND:5281004", "UNII:Q3OKS62Q6X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32071", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01MA17"], "medic_earliest_approval_date": "20071030", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:8c00b3ee-76fb-5ec0-875f-4a046f75813d", "medic_reliability": "MEDIUM", "medic_smiles": "Cc1oc(=O)oc1CN1CCN(c2cc3c(cc2F)c(=O)c(C(=O)O)c2n3C(C)S2)CC1", "name": "Prulifloxacin", "provided_by": ["infores:medic"], "synonym": ["Prulifloxacin (600mg) Tablet."]}
{"category": ["biolink:Drug"], "id": "CHEBI:32076", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D11AX12"], "medic_earliest_approval_date": "20080707", "medic_mention_id": "MEDICNE:0c57e445-318a-5dff-a461-389a0859f47b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007977"], "medic_reliability": "MEDIUM", "medic_smiles": "[O-][n+]1ccccc1[S-].[O-][n+]1ccccc1[S-].[Zn+2]", "name": "zinc pyrithione", "provided_by": ["infores:medic"], "synonym": ["Zinc pyrithione", "Пиритион цинк"], "xref": ["UNII:R953O2RHZ5"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32089", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["L01AD07"], "medic_earliest_approval_date": "20141218", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:56d75913-6134-5a97-9d2f-143eaf0229eb", "medic_reliability": "HIGH", "medic_smiles": "CO[C@H]1O[C@H](CNC(=O)N(CCCl)N=O)[C@@H](O)[C@H](O)[C@H]1O", "name": "Ranimustine", "provided_by": ["infores:medic"], "synonym": ["RANIMUSTINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32090", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["A02BX14"], "medic_earliest_approval_date": "20110926", "medic_mention_id": "MEDICNE:c54177e2-dfad-57d7-a42c-bc713c86a22a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001831"], "medic_reliability": "HIGH", "medic_smiles": "O=C(NC(Cc1cc(=O)[nH]c2ccccc12)C(=O)O)c1ccc(Cl)cc1", "name": "rebamipide", "provided_by": ["infores:medic"], "synonym": ["REBAMIPIDE", "Rebamipide"], "xref": ["DRUGBANK:DB11656", "GTOPDB:871", "PHAROS:WWXB6USS1Y2J", "PUBCHEM.COMPOUND:5042"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32091", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20230215", "medic_mention_id": "MEDICNE:f7c31138-5358-550b-a845-e17128d3f878", "medic_reliability": "MEDIUM", "name": "remifentanil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Remifentanil Hydrochloride 1mg/2mg for Injection", "Remifentanil Hydrochloride EP Bulk"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:32109", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070531", "medic_mention_id": "MEDICNE:213c5e12-27dc-5cf5-9c80-700725934661", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001217"], "medic_reliability": "MEDIUM", "name": "(Z)-roxithromycin", "provided_by": ["infores:medic"], "synonym": ["Roxithromycin", "Рокситромицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32111", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:f314ef51-8532-57fc-a14d-a4cfb59cdbec", "medic_registration_numbers": ["MOH_RUSSIA:64/228/222"], "medic_reliability": "MEDIUM", "name": "saccharin", "provided_by": ["infores:medic"], "synonym": ["Saccharin", "Сахарин"], "xref": ["CHEMBL.COMPOUND:CHEMBL310671", "PHAROS:VR72KS9NK6KQ", "PUBCHEM.COMPOUND:5143", "UNII:FST467XS7D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32114", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N02BA05", "N02BA55", "N02BA75"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:8980fe89-0d41-5525-97c1-aebd748e6b37", "medic_registration_numbers": ["MOH_RUSSIA:64/228/217"], "medic_reliability": "MEDIUM", "medic_smiles": "NC(=O)c1ccccc1O", "name": "salicylamide", "provided_by": ["infores:medic"], "synonym": ["Caffeine + Naproxen + Salicylamide", "Salicylamide", "Салициламид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32123", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19990823", "medic_mention_id": "MEDICNE:432340be-c334-5fe1-a836-b115f78054eb", "medic_reliability": "HIGH", "name": "butylscopolamine bromide", "provided_by": ["infores:medic"], "synonym": ["Hyoscine butylbromide", "Hyoscine-N-butyl Bromide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32126", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["R03DX06"], "medic_earliest_approval_date": "20120101", "medic_mention_id": "MEDICNE:6c011f6e-71ee-5c6b-87a9-9cca74ccbc61", "medic_reliability": "MEDIUM", "medic_smiles": "CC1=C(C)C(=O)C(C(CCCCCC(=O)O)c2ccccc2)=C(C)C1=O", "name": "Seratrodast", "provided_by": ["infores:medic"], "synonym": ["Seratrodast Tablets 40mg/80mg"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3213", "medic_application_numbers": ["018225|018226|074160|074225|074332|074441|074613|074700|079196|202900|209724|209916|212019|212470|212931|213458|213942|215362|215364|216434|217153|218746|219116|219291|219500|220427"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C03CA02"], "medic_earliest_approval_date": "19830228", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dda53f04-4a15-55fa-9cb7-b64d5127a5f8", "medic_reliability": "HIGH", "medic_smiles": "CCCCNc1cc(C(=O)O)cc(S(N)(=O)=O)c1Oc1ccccc1", "name": "bumetanide", "provided_by": ["infores:medic"], "synonym": ["BUMETANIDE", "Bumetanide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1072", "DRUGBANK:DB00887", "DrugCentral:427", "GTOPDB:4837", "PHAROS:VCWU19G4S4YZ", "PUBCHEM.COMPOUND:2471", "UNII:0Y2S3XUQ5H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32139", "medic_application_numbers": ["019443|077394|202432|202494|202495|202679|202981|203449|206688|211091|216042|216364|217523|217594|219701"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["B05CB04", "B05XA02"], "medic_earliest_approval_date": "19670711", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3aae4ad1-ebf0-5bb5-874a-194186a5224a", "medic_registration_numbers": ["MOH_RUSSIA:67/554/126"], "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])O.[Na+]", "name": "sodium hydrogencarbonate", "provided_by": ["infores:medic"], "synonym": ["SODIUM BICARBONATE", "Sodium Bicarbonate Tablets", "Sodium bicarbonate"], "xref": ["DRUGBANK:DB01390"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32140", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20100505", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:20d46173-bed2-54b1-b0e4-8d1809f3f638", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000493"], "medic_reliability": "MEDIUM", "name": "sodium caffeine benzoate", "provided_by": ["infores:medic"], "synonym": ["Sodium caffeine benzoate", "Кофеин-бензоат натрия"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32142", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:3d7fcc60-7824-5f0f-8230-ce457b4bcc56", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002710"], "medic_reliability": "HIGH", "name": "sodium citrate dihydrate", "provided_by": ["infores:medic"], "synonym": ["Sodium citrate"], "xref": ["DRUGBANK:DB09154"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32146", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20211011", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:ee0e0075-bf5f-5b79-aa46-3e38f4d90566", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007484"], "medic_reliability": "MEDIUM", "name": "sodium hypochlorite", "provided_by": ["infores:medic"], "synonym": ["Sodium hypochlorite", "Натрия гипохлорит"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32147", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["A06AB08", "A06AB58"], "medic_earliest_approval_date": "20060113", "medic_mention_id": "MEDICNE:747c6f5a-f7e8-5116-b638-abd0a4e7c55d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000834"], "medic_reliability": "HIGH", "medic_smiles": "O=S(=O)([O-])Oc1ccc(C(c2ccc(OS(=O)(=O)[O-])cc2)c2ccccn2)cc1.[Na+].[Na+]", "name": "sodium picosulfate", "provided_by": ["infores:medic"], "synonym": ["SODIUM PICOSULFATE HYDRATE", "Sodium picosulfate"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:32149", "medic_stub": true, "name": "sodium sulfate", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3215", "medic_application_numbers": ["016964|018053|018304|018692|019978|070552|070553|070554|070583|070584|070585|070586|070587|070590|070597|070609|071202|071810|076012|091487|091503|203895|204842|205141|207183|207266|209087|209511|211096|212822|216039|216040|217792|217821"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["N01BB01", "N01BB51"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8dddfc4c-a92a-5564-aad2-e840c64f80ec", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002121"], "medic_reliability": "HIGH", "medic_smiles": "CCCCN1CCCCC1C(=O)Nc1c(C)cccc1C", "name": "bupivacaine", "provided_by": ["infores:medic"], "synonym": ["BUPIVACAINE", "BUPIVACAINE HYDROCHLORIDE", "BUPIVACAINE HYDROCHLORIDE; EPINEPHRINE", "BUPIVACAINE HYDROCHLORIDE; EPINEPHRINE BITARTRATE", "BUPIVACAINE HYDROCHLORIDE; LIDOCAINE HYDROCHLORIDE", "BUPIVACAINE; MELOXICAM", "Bupivacaine", "Bupivacaine + Epinephrine", "Bupivacaine Hydrochloride", "bupivacaine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201193", "DRUGBANK:DB00297", "DrugCentral:4", "PHAROS:1K8VDFWQQMK8", "PUBCHEM.COMPOUND:92253", "UNII:A5H73K9U3W", "UNII:Y8335394RO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32150", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:9a61b91b-1b11-5c8a-911a-e3f11b6066a5", "medic_registration_numbers": ["MOH_RUSSIA:64/228/171"], "medic_reliability": "MEDIUM", "name": "sodium thiosulfate pentahydrate", "provided_by": ["infores:medic"], "synonym": ["Sodium thiosulfate", "Натрия тиосульфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32159", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20090509", "medic_mention_id": "MEDICNE:4992cc91-d8c9-5085-bc22-0025bc60a42d", "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1O[C@H](O[C@]2(CCl)O[C@H](CCl)[C@@H](O)[C@@H]2O)[C@H](O)[C@@H](O)[C@H]1Cl", "name": "sucralose", "provided_by": ["infores:medic"], "synonym": ["Sucralose"], "xref": ["CHEMBL.COMPOUND:CHEMBL3185084", "PHAROS:5LBDFPY2P2NR", "PUBCHEM.COMPOUND:71485"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3216", "medic_application_numbers": ["021306|204937|207490|209819|210136|210162|210272|211586"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c174a87c-b2ac-5ed4-bb74-ec4b61896ed7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011109)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "buprenorphine", "provided_by": ["infores:medic"], "synonym": ["BUPRENORPHINE", "BUPRENORPHINE HYDROCHLORIDE", "BUPRENORPHINE HYDROCHLORIDE; NALOXONE HYDROCHLORIDE", "Buprenorphine", "Buprenorphine + Naloxone (2 mg/0.4mg + 0.5/0.1 mg) Tablets", "buprenorphine", "buprenorphine;naloxone"], "xref": ["CHEMBL.COMPOUND:CHEMBL560511", "DRUGBANK:DB00921", "DrugCentral:434", "GTOPDB:1670", "PHAROS:1MYL2TZ39DL2", "PUBCHEM.COMPOUND:644073", "UNII:40D3SCR4GZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32161", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19670131", "medic_mention_id": "MEDICNE:329b39b1-5b15-5045-872e-5b4cb17a97c9", "medic_registration_numbers": ["MOH_RUSSIA:67/85/56"], "medic_reliability": "MEDIUM", "name": "sulfadimethoxine", "provided_by": ["infores:medic"], "synonym": ["Sulfadimethoxine", "Сульфадиметоксин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32162", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01ED02"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:56bcad8f-9c6a-5dbf-96a1-afb41ecd87ee", "medic_reliability": "HIGH", "medic_smiles": "COc1nccnc1NS(=O)(=O)c1ccc(N)cc1", "name": "sulfamethopyrazine", "provided_by": ["infores:medic"], "synonym": ["Sulfametopyrazine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32164", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19730820", "medic_mention_id": "MEDICNE:8b013295-14b4-5922-8997-0f5a53d7940c", "medic_registration_numbers": ["MOH_RUSSIA:73/636/13"], "medic_reliability": "MEDIUM", "name": "Sulfamonomethoxine", "provided_by": ["infores:medic"], "synonym": ["Sulfamonomethoxin", "Сульфамонометоксин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32168", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["N05AL01"], "medic_earliest_approval_date": "19991026", "medic_mention_id": "MEDICNE:3dabc089-1703-507b-ac7e-ffe44b590be9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000913"], "medic_reliability": "HIGH", "medic_smiles": "CCN1CCCC1CNC(=O)c1cc(S(N)(=O)=O)ccc1OC", "name": "sulpiride", "provided_by": ["infores:medic"], "synonym": ["Sulpiride", "Sulpiride 50mg/200mg Capsule", "Sulpiride Hydrochloride Tablets", "Sulpiride Injection", "Sulpiride Tablets", "Сульпирид"], "xref": ["CHEMBL.COMPOUND:CHEMBL26", "DrugCentral:2537", "GTOPDB:5501", "PHAROS:LALZ95KS948D", "PUBCHEM.COMPOUND:5355", "UNII:7MNE9M8287"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32171", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N03AX03"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:fcf847a9-a60d-5362-8487-233721042c2a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002939)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "NS(=O)(=O)c1ccc(N2CCCCS2(=O)=O)cc1", "name": "Sultiame", "provided_by": ["infores:medic"], "synonym": ["Sulthiame 200mg Tablet", "Sultiam"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32176", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D05AX04"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:2c2cb3c1-6bc7-5e3f-9af6-6c4f0f2fa287", "medic_reliability": "MEDIUM", "medic_smiles": "C=C1/C(=C\\C=C2/CCC[C@]3(C)[C@@H]([C@H](C)CC[C@@H](O)C(C)C)CC[C@@H]23)C[C@@H](O)C[C@@H]1O", "name": "tacalcitol", "provided_by": ["infores:medic"], "synonym": ["Tacalcitol ointment 4mcg"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105611", "GTOPDB:2780", "PHAROS:MW6LKMHF7NPF", "PUBCHEM.COMPOUND:5283734"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32178", "medic_application_numbers": ["020587|021388|205555"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19730615", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b569bc7e-8100-50cc-9399-4672b46f9259", "medic_registration_numbers": ["MOH_RUSSIA:73/461/24"], "medic_reliability": "HIGH", "name": "Talc", "provided_by": ["infores:medic"], "synonym": ["Boric acid + Methenamine + Sodium tetraborate + Salicylic acid + Lead acetate + Talc + Formaldehyde + Zinc oxide", "Boric acid + Methenamine + Talc + Sodium tetraborate + Salicylic acid + Lead acetate + Formaldehyde + Zinc oxide", "TALC", "Talc", "Борная кислота+Метенамин+Тальк+Натрия тетраборат+Салициловая кислота+Свинца ацетат+Формальдегид+Цинка оксид"], "xref": ["UNII:7SEV7J4R1U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32184", "medic_application_numbers": ["020600|021184|202428|208258|208662|211175|211882|213079|213644|214136|214560|215393|215433|217075"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D05AX05"], "medic_earliest_approval_date": "19970613", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7c74d3df-7557-5052-a99a-bbfd81c633c2", "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)c1ccc(C#Cc2ccc3c(c2)C(C)(C)CCS3)nc1", "name": "tazarotene", "provided_by": ["infores:medic"], "synonym": ["HALOBETASOL PROPIONATE; TAZAROTENE", "TAZAROTENE", "Tazarotene"], "xref": ["CHEMBL.COMPOUND:CHEMBL1657", "DRUGBANK:DB00799", "DrugCentral:2571", "GTOPDB:6952", "PHAROS:PVZSWAXQMF34", "PUBCHEM.COMPOUND:5381", "UNII:81BDR9Y8PS"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32187", "medic_application_numbers": ["017944"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820518", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:962f0c15-3847-5ac2-85b2-2755df13c798", "medic_reliability": "HIGH", "name": "Technetium Tc 99m succimer", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M SUCCIMER", "TECHNETIUM TC-99M SUCCIMER KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32188", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["L01BC03", "L01BC53"], "medic_earliest_approval_date": "20070822", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:5e983c4e-b8ad-5d4f-8660-8316c26e1967", "medic_reliability": "MEDIUM", "medic_smiles": "O=c1[nH]c(=O)n(C2CCCO2)cc1F", "name": "Tegafur", "provided_by": ["infores:medic"], "synonym": ["Tegafur (100mg) + Uracil (224mg) capsule."]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3219", "medic_application_numbers": ["022108"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19851230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7603a1db-dfa2-553c-bd34-1f482b851023", "medic_reliability": "HIGH", "medic_smiles": "Br.CC(NC(C)(C)C)C(=O)c1cccc(Cl)c1", "name": "bupropion", "provided_by": ["infores:medic"], "synonym": ["BUPROPION HYDROBROMIDE", "BUPROPION HYDROCHLORIDE", "BUPROPION HYDROCHLORIDE; DEXTROMETHORPHAN HYDROBROMIDE", "BUPROPION HYDROCHLORIDE; NALTREXONE HYDROCHLORIDE", "Bupropion"], "xref": ["CHEMBL.COMPOUND:CHEMBL894", "DRUGBANK:DB01156", "DrugCentral:435", "GTOPDB:7135", "PHAROS:NPWUG3927YCG", "PUBCHEM.COMPOUND:444", "UNII:01ZG3TPX31"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32192", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["M01AC02"], "medic_earliest_approval_date": "19930429", "medic_mention_id": "MEDICNE:0445446d-e906-5af9-932a-d8b25f8a5b1e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004089"], "medic_reliability": "HIGH", "medic_smiles": "CN1C(C(=O)Nc2ccccn2)=C(O)c2sccc2S1(=O)=O", "name": "tenoxicam", "provided_by": ["infores:medic"], "synonym": ["Tenoxicam", "Tenoxicam 20mg Dispersible Tablet", "Tenoxicam 20mg Tablet"], "xref": ["DRUGBANK:DB00469"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3220", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210506", "medic_mention_id": "MEDICNE:24b93c01-fd6e-5e4f-a3e4-6c780d9593a4", "medic_reliability": "MEDIUM", "name": "Bupropion hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bupropion Hydrochloride Extended-Release Tablets", "Bupropion Hydrochloride Extended-Release Tablets (II)", "盐酸安非他酮缓释片(Ⅱ)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32220", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:51170fd6-c7bf-5817-beac-a083f5d79d7c", "medic_reliability": "MEDIUM", "medic_smiles": "CCN(CC)CCNC(=O)c1cc(S(C)(=O)=O)ccc1OC.Cl", "name": "Tiapride hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Tiapride Hydrochloride Tablets 25mg/50mg/100mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32221", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["M01AE11"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:82f53a1d-4f32-545d-b6a5-f77838ea9806", "medic_reliability": "HIGH", "medic_smiles": "CC(C(=O)O)c1ccc(C(=O)c2ccccc2)s1", "name": "tiaprofenic acid", "provided_by": ["infores:medic"], "synonym": ["Tiaprofenic Acid", "Tiaprofenic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL365795", "DRUGBANK:DB01600", "DrugCentral:2652", "PHAROS:PQWYB81F651D", "PUBCHEM.COMPOUND:5468", "UNII:1LS1T6R34C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32223", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["G03CX01"], "medic_earliest_approval_date": "19901126", "medic_mention_id": "MEDICNE:e5d62144-b5bf-56c9-8541-d8e4cf27c276", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001739"], "medic_reliability": "HIGH", "medic_smiles": "C#C[C@]1(O)CC[C@H]2[C@@H]3[C@H](C)CC4=C(CCC(=O)C4)[C@H]3CC[C@@]21C", "name": "tibolone", "provided_by": ["infores:medic"], "synonym": ["Tibolon", "Tibolone", "Tibolone 2.5mg Tablet", "Tibolone Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103774", "DRUGBANK:DB09070", "GTOPDB:9711", "PHAROS:XJ1V3BSSG221", "PUBCHEM.COMPOUND:444008"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32229", "medic_application_numbers": ["019569|211843|214326|216198|216278|216456|216990|217219"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["G04BX16"], "medic_earliest_approval_date": "19880811", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:851c13a4-ef7b-5965-8a8e-d5fbe7e20882", "medic_reliability": "HIGH", "medic_smiles": "CC(S)C(=O)NCC(=O)O", "name": "Tiopronin", "provided_by": ["infores:medic"], "synonym": ["TIOPRONIN", "Tiopronin"], "xref": ["DRUGBANK:DB06823"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3223", "medic_application_numbers": ["018731|021190|074253|075022|075119|075385|075388|075413|075467|075521|075572|076008|078246|078302|078888|202087|202330|202557|204582|208829|208972|209696|210907|218628"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5a6c4020-2dd1-5618-a70c-9056e2656625", "medic_reliability": "HIGH", "medic_smiles": "Cl.O=C1CC2(CCCC2)CC(=O)N1CCCCN1CCN(c2ncccn2)CC1", "name": "buspirone", "provided_by": ["infores:medic"], "synonym": ["BUSPIRONE HYDROCHLORIDE", "Buspirone", "Buspirone Hcl 5mg/10mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL49", "DRUGBANK:DB00490", "DrugCentral:437", "GTOPDB:36", "PHAROS:ZMS6ZPFS1KK8", "PUBCHEM.COMPOUND:2477", "UNII:TK65WKS8HL"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:32234", "medic_stub": true, "name": "titanium dioxide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3224", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230427", "medic_mention_id": "MEDICNE:437d9e9e-0d16-5e53-af27-9b97b2c74f6f", "medic_reliability": "MEDIUM", "name": "buspirone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Buspirone Hydrochloride Tablets", "盐酸丁螺环酮片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32241", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N05BA23"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:b2540c02-687e-518a-9e5e-96c009c0a498", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006107"], "medic_reliability": "MEDIUM", "medic_smiles": "CCC1C(C)=NN=C(c2ccc(OC)c(OC)c2)c2cc(OC)c(OC)cc21", "name": "Tofisopam", "provided_by": ["infores:medic"], "synonym": ["Tofizopam", "Тофизопам"], "xref": ["CHEMBL.COMPOUND:CHEMBL404216", "PHAROS:KZFLKDCNGXJS", "PUBCHEM.COMPOUND:5502"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32243", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["M01AG02"], "medic_earliest_approval_date": "19980304", "medic_mention_id": "MEDICNE:e9a1a5a6-afa7-52ca-8fcd-f411052db798", "medic_reliability": "HIGH", "medic_smiles": "Cc1c(Cl)cccc1Nc1ccccc1C(=O)O", "name": "tolfenamic acid", "provided_by": ["infores:medic"], "synonym": ["Tolfenamic Acid 200mg Capsule", "Tolfenamic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL121626", "DRUGBANK:DB09216", "DrugCentral:2698", "GTOPDB:8769", "PHAROS:P6UJVP28YX23", "PUBCHEM.COMPOUND:610479", "UNII:3G943U18KM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32245", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20070615", "medic_mention_id": "MEDICNE:721f7ab5-005e-582d-a3e2-160773a143aa", "medic_reliability": "MEDIUM", "name": "tolterodine tartrate", "provided_by": ["infores:medic"], "synonym": ["Tolterodine Tartrate 4mg (ER) + Tamsulosin HCL 0.4mg Capsule.", "Tolterodine Tartrate Extended release tablets 2mg/4mg (Additional Dosage Form)", "Tolterodine Tartrate Extended-Release Capsules", "Tolterodine Tartrate Tablets", "酒石酸托特罗定缓释胶囊"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32246", "medic_application_numbers": ["022275|204441|205646|206119|207605|211891|216063|216949|218381"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "usa"], "medic_earliest_approval_date": "20090519", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:20774876-5093-5334-a165-710785e872ae", "medic_reliability": "HIGH", "name": "tolvaptan", "provided_by": ["infores:medic"], "synonym": ["TOLVAPTAN", "Tolvaptan", "Tolvaptan Orally Disintegrating Tablets", "Tolvaptan Tablets", "Tolvaptan Tablets 15/30mg", "tolvaptan"], "xref": ["CHEMBL.COMPOUND:CHEMBL344159", "DRUGBANK:DB06212", "DrugCentral:4110", "GTOPDB:2226", "PHAROS:JCWBL5XZ9URG", "PUBCHEM.COMPOUND:216237", "UNII:21G72T1950"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32250", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19901215", "medic_mention_id": "MEDICNE:a49c577b-c801-5a29-a523-a06bfc11a2e0", "medic_reliability": "MEDIUM", "name": "tramadol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Tramadol HCL 200mg Controlled Release tablet (Additional Dosage Form)", "Tramadol Hydrochloride Capsules", "Tramadol Hydrochloride Extended-Release Tablets", "Tramadol Hydrochloride Injection", "Tramadol Hydrochloride Tablets", "盐酸曲马多注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32256", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100226", "medic_mention_id": "MEDICNE:4110f998-e7e3-57aa-9eae-85b5b8b6f266", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002857)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Tribenoside", "provided_by": ["infores:medic"], "synonym": ["Lidocaine + Tribenoside", "Tribenoside + Lidocaine", "Tribenoside+[Lidocaine]", "Лидокаин+Трибенозид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32260", "medic_application_numbers": ["018719"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["H02CA01"], "medic_earliest_approval_date": "19841231", "medic_features": ["STEROID"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:396e5734-adca-5437-ad75-90bb7057dc07", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CC[C@H]3[C@@H](CC[C@@]45O[C@@H]4C(O)=C(C#N)C[C@]35C)[C@@H]1CC[C@@H]2O", "name": "trilostane", "provided_by": ["infores:medic"], "synonym": ["TRILOSTANE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200907", "DrugCentral:2746", "PHAROS:4BK6B8JNKQNX", "PUBCHEM.COMPOUND:656583", "UNII:L0FPV48Q5R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32261", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240510", "medic_mention_id": "MEDICNE:85c9c6dc-9f51-540f-81b2-d5b56765ee5e", "medic_reliability": "MEDIUM", "name": "Trimebutine maleate", "provided_by": ["infores:medic"], "synonym": ["Trimebutine Maleate Tablets", "马来酸曲美布汀片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32262", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20050601", "medic_mention_id": "MEDICNE:c16307d9-e5d9-53a3-858f-49c47fc0eb23", "medic_reliability": "MEDIUM", "name": "Trimetazidine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Trimetazidine Hydrochloride Extended-Release Tablets", "Trimetazidine Hydrochloride Tablets", "盐酸曲美他嗪片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32269", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20050923", "medic_mention_id": "MEDICNE:d147fb66-1557-5fbb-844e-beec26d25b56", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006843)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "tropisetron", "provided_by": ["infores:medic"], "synonym": ["Tropisetron", "Трописетрон"], "xref": ["CHEMBL.COMPOUND:CHEMBL56564", "DrugCentral:2775", "GTOPDB:260", "PHAROS:Z1HG9Z9KH76A", "PUBCHEM.COMPOUND:656665", "UNII:6I819NIK1W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32270", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["G04BD09"], "medic_earliest_approval_date": "20090101", "medic_mention_id": "MEDICNE:fcb5215e-12be-5e69-9d27-552313767db1", "medic_reliability": "MEDIUM", "medic_smiles": "O=C(O[C@H]1C[C@H]2CC[C@@H](C1)[N+]21CCCC1)C(O)(c1ccccc1)c1ccccc1", "name": "trospium chloride", "provided_by": ["infores:medic"], "synonym": ["Trospium Chloride ER Capsules 60 mg", "Trospium Chloride film coated tablet 20mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32278", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090310", "medic_mention_id": "MEDICNE:0fe911d9-8bc0-5c9d-b830-7141d49b07f9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000466"], "medic_reliability": "MEDIUM", "name": "Urapidil", "provided_by": ["infores:medic"], "synonym": ["Urapidil", "Урапидил"], "xref": ["CHEMBL.COMPOUND:CHEMBL279229", "DrugCentral:2796", "PHAROS:GPGPTFAXVNQ7", "PUBCHEM.COMPOUND:5639", "UNII:A78GF17HJS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3228", "medic_application_numbers": ["000793|083325|083337|083484|083524|083606|083858|083896|083897|083898|084040|084272|084292|084719|084723|085380|085381|085383|085418|085432|085550|085764|085772|085849|085866|085873|085880|085881|085934|085938|088631|088632"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fb36b6c4-03bc-50d7-ad79-b4634545f53e", "medic_reliability": "HIGH", "name": "butabarbital", "provided_by": ["infores:medic"], "synonym": ["BUTABARBITAL SODIUM"], "xref": ["CHEMBL.COMPOUND:CHEMBL449", "DrugCentral:439", "PHAROS:APX8A76VGQR7", "PUBCHEM.COMPOUND:2479", "UNII:P0078O25A9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32286", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20031113", "medic_mention_id": "MEDICNE:90c105d7-a880-5e5d-bcc3-aadce094d8b2", "medic_reliability": "LOW", "name": "alfuzosin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Afuzosin Hydrochloride Extended-Release Tablets", "盐酸阿夫唑嗪缓释片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32293", "medic_application_numbers": ["021119"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20000412", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fb3c5766-5d19-574d-a4af-e2844a44f096", "medic_registration_numbers": ["MOH_RUSSIA:П N013830/01"], "medic_reliability": "HIGH", "name": "verteporfin", "provided_by": ["infores:medic"], "synonym": ["VERTEPORFIN", "Vertaporfin", "Verteporfin", "verteporfin"], "xref": ["DRUGBANK:DB00460", "UNII:0X9PA28K43"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32297", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N06BX18"], "medic_earliest_approval_date": "20041125", "medic_mention_id": "MEDICNE:9cb95e42-4311-572b-a1b9-f1fb8f4ae28c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000135"], "medic_reliability": "MEDIUM", "medic_smiles": "CCOC(=O)C1=C[C@]2(CC)CCCN3CCc4c(n1c1ccccc41)[C@@H]32", "name": "Vinpocetine", "provided_by": ["infores:medic"], "synonym": ["Vinpocetine", "Vinpocetine + Indapamide + Metoprolol + Enalapril", "Vinpocetine + Piracetam", "Винпоцетин"], "xref": ["CHEMBL.COMPOUND:CHEMBL71752", "GTOPDB:5285", "PHAROS:2LCK2XFY894F", "PUBCHEM.COMPOUND:443955"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32300", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan"], "medic_atc_codes": ["A10BF03"], "medic_earliest_approval_date": "20010410", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:edec3331-3170-58a1-b2b4-2e1124442571", "medic_reliability": "HIGH", "medic_smiles": "OCC(CO)N[C@H]1C[C@](O)(CO)[C@@H](O)[C@H](O)[C@H]1O", "name": "Voglibose", "provided_by": ["infores:medic"], "synonym": ["VOGLIBOSE", "Voglibose 0.2 mg + Metformin 500mg Tablets", "Voglibose 0.2mg/0.3mg tablet (Mouth dissolving)", "Voglibose Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL476960", "DrugCentral:2845", "PHAROS:PUUPCSW6697X", "PUBCHEM.COMPOUND:444020", "UNII:S77P977AG8"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:3231", "medic_stub": true, "name": "butamben", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32312", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080925", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:c817a7b6-64df-59a8-ab67-e1acc271ce20", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000816)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "zinc sulfate heptahydrate", "provided_by": ["infores:medic"], "synonym": ["Zinc sulfate", "Цинка сульфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32315", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["N05CF01"], "medic_earliest_approval_date": "19960816", "medic_mention_id": "MEDICNE:28f907a2-1dea-5613-8783-a25cb26fac5a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007345"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN(C(=O)OC2c3nccnc3C(=O)N2c2ccc(Cl)cn2)CC1", "name": "zopiclone", "provided_by": ["infores:medic"], "synonym": ["Zopiclone", "Zopiclone BP 7.5mg Tablet", "Zopiclone Tablets", "Zopiclone Tablets (Right)"], "xref": ["CHEMBL.COMPOUND:CHEMBL135400", "DRUGBANK:DB01198", "DrugCentral:2873", "PHAROS:UFYBVMZGZNAD", "PUBCHEM.COMPOUND:5735", "UNII:03A5ORL08Q"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3238", "medic_application_numbers": ["020524|021307|021408|205181"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19961018", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:a26f72fb-8548-5515-98f9-69e7fe5a69d5", "medic_reliability": "HIGH", "medic_smiles": "CN(Cc1ccc(C(C)(C)C)cc1)Cc1cccc2ccccc12.Cl", "name": "butenafine", "provided_by": ["infores:medic"], "synonym": ["BUTENAFINE HYDROCHLORIDE", "Butenafine"], "xref": ["CHEMBL.COMPOUND:CHEMBL990", "DRUGBANK:DB01091", "PHAROS:9MSZVW8YKMUT", "PUBCHEM.COMPOUND:2484", "UNII:91Y494NL0X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3240", "medic_application_numbers": ["019215|019359|019881|020421|200923"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19851125", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4fce12d3-83aa-5a6c-8f6e-da2b8d18fd45", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000131)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "butoconazole", "provided_by": ["infores:medic"], "synonym": ["BUTOCONAZOLE NITRATE", "Butoconazole", "Butoconazole + Clindamycin"], "xref": ["DRUGBANK:DB00639", "UNII:0Q771797PH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3242", "medic_application_numbers": ["017857|019890|074620|074626|075045|075046|075170|075342|075499|075559|075695|075697|075759|075824|078247|078400"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a46a9ba7-6ab8-5279-9149-8e3c35cecbd9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011269)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)C(O)C(O)C(=O)O.Oc1ccc2c(c1)[C@@]13CCCC[C@@]1(O)[C@@H](C2)N(CC1CCC1)CC3", "name": "butorphanol", "provided_by": ["infores:medic"], "synonym": ["BUTORPHANOL TARTRATE", "Butorphanol"], "xref": ["CHEMBL.COMPOUND:CHEMBL33986", "DRUGBANK:DB00611", "DrugCentral:454", "GTOPDB:7591", "PHAROS:8RXU2WJJVP72", "PUBCHEM.COMPOUND:5361092", "UNII:QV897JC36D"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32588", "medic_application_numbers": ["007865|017046|017476|017850|018238|018279|019123|019381|019439|019561|019904|020161|070618|070980|070998|070999|072427|073398|073531|073532|074726|075604|076044|076368|077419|080195|080203|080204|080205|080221|080225|080736|083163|083345|084290|085499|085870|086208|086210|086219|086220|086297|086713|086714|087362|087584|087585|087787|087817|087885|088286|088901|088908|089163|089421|200185|201944|202128|202868|202886|203002|203106|203562|204210|204662|204828|205549|205993|206347|206630|206759|206814|206881|207528|208019|208445|208864|209026|209314|209662|209688|209786|209922|210041|210097|210098|210200|210241|210395|210733|210766|210902|210921|211067|211087|211648|211665|211667|211797|211992|212183|212561|212816|212861|212987|213062|213392|213467|213588|214076|214108|214395|214422|214452|214656|214686|214727|214728|214892|215716|215725|216156|216269|216321|216536|217412|217704|218733|218960|218979|219009"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["A12BA01", "A12BA51", "B05XA01"], "medic_earliest_approval_date": "19700928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:783eabc8-3fe6-517f-8600-72e2f5620136", "medic_registration_numbers": ["MOH_RUSSIA:70/626/5"], "medic_reliability": "HIGH", "medic_smiles": "[Cl-].[K+]", "name": "potassium chloride", "provided_by": ["infores:medic"], "synonym": ["DEXTROSE; POTASSIUM CHLORIDE", "POTASSIUM CHLORIDE", "POTASSIUM CHLORIDE; SODIUM CHLORIDE", "POTASSIUM CHLORIDE; SODIUM CHLORIDE; TROMETHAMINE", "Potassium Chloride + [Dextrose]", "Potassium Chloride Granules", "Potassium Chloride and Sodium Chloride Injection", "Potassium chloride", "Potassium chloride + Calcium chloride + Magnesium chloride + Sodium acetate + Sodium chloride", "Potassium chloride + Calcium chloride + Magnesium chloride + Sodium acetate + Sodium chloride + Malic acid", "Potassium chloride + Calcium chloride + Magnesium chloride + Sodium lactate + Sodium chloride", "Potassium chloride + Calcium chloride + Magnesium chloride + Sodium lactate + Sodium chloride + Sorbitol", "Potassium chloride + Magnesium chloride + Sodium acetate + Sodium gluconate + Sodium chloride", "Potassium chloride + Magnesium chloride + Sodium chloride + Sodium fumarate", "Potassium chloride + Magnesium chloride + Sodium fumarate + Sodium chloride", "Potassium chloride + Magnesium chloride hexahydrate + Sodium acetate trihydrate + Sodium gluconate + Sodium chloride", "Potassium chloride + Sodium acetate + Sodium chloride", "Potassium chloride + Sodium bicarbonate + Sodium chloride", "Potassium chloride + [Sodium chloride]", "氯化钾氯化钠注射液"], "xref": ["DRUGBANK:DB00761"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32599", "medic_application_numbers": ["215344"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:67c4ff67-66c8-5c5e-ba38-bdbb8a02305c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001628"], "medic_reliability": "HIGH", "medic_smiles": "O=S(=O)([O-])[O-].[Mg+2]", "name": "magnesium sulfate", "provided_by": ["infores:medic"], "synonym": ["MAGNESIUM SULFATE", "MAGNESIUM SULFATE HYDRATE", "MAGNESIUM SULFATE; POLYETHYLENE GLYCOL 3350; POTASSIUM CHLORIDE; POTASSIUM SULFATE; SODIUM BICARBONATE; SODIUM CHLORIDE; SODIUM SULFATE", "MAGNESIUM SULFATE; POLYETHYLENE GLYCOL 3350; POTASSIUM CHLORIDE; SODIUM CHLORIDE; SODIUM SULFATE", "MAGNESIUM SULFATE; POTASSIUM CHLORIDE; POTASSIUM PHOSPHATE, MONOBASIC; SODIUM CHLORIDE; SODIUM PHOSPHATE", "MAGNESIUM SULFATE; POTASSIUM CHLORIDE; SODIUM SULFATE", "MAGNESIUM SULFATE; POTASSIUM SULFATE; SODIUM SULFATE", "Magnesium sulfate", "Potassium sulfate + Magnesium sulfate + Sodium sulfate"], "xref": ["DRUGBANK:DB00653"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32687", "medic_application_numbers": ["021043"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000307", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:473732dc-b3d6-547e-90f2-c7731d8a042c", "medic_reliability": "HIGH", "medic_smiles": "CCCCOCCOCCOCc1cc2c(cc1CCC)OCO2", "name": "piperonyl butoxide", "provided_by": ["infores:medic"], "synonym": ["PIPERONYL BUTOXIDE; PYRETHRINS", "Piperonyl butoxide"], "xref": ["DRUGBANK:DB09350", "UNII:LWK91TU9AH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3286", "medic_application_numbers": ["020664|076310|077750|077843|078035|201503|202947|204735|218109|218618"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["G02CB03", "N04BC06"], "medic_earliest_approval_date": "19961223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:01ce151c-1471-5a2d-989c-f8b12bc0982a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003364"], "medic_reliability": "HIGH", "medic_smiles": "C=CCN1C[C@H](C(=O)N(CCCN(C)C)C(=O)NCC)C[C@@H]2c3cccc4[nH]cc(c34)C[C@H]21", "name": "cabergoline", "provided_by": ["infores:medic"], "synonym": ["CABERGOLINE", "Cabergoline", "Cabergoline 1mg Tablets (Additional indication)", "Cabergoline 1mg tablet (additional strength)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201087", "DRUGBANK:DB00248", "DrugCentral:460", "GTOPDB:37", "PHAROS:X9Y8XT4M75UX", "PUBCHEM.COMPOUND:54746", "UNII:LL60K9J05T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32888", "medic_application_numbers": ["006309|010718|084218|084219|084988|084989|086769|087266|087313|087940|088190|088191"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["P03AB02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:06edd309-17ae-5bbd-96fe-4d32084cc99e", "medic_reliability": "HIGH", "medic_smiles": "Cl[C@H]1[C@H](Cl)[C@@H](Cl)[C@@H](Cl)[C@H](Cl)[C@H]1Cl", "name": "gamma-hexachlorocyclohexane", "provided_by": ["infores:medic"], "synonym": ["LINDANE", "Lindane"], "xref": ["CHEMBL.COMPOUND:CHEMBL15891", "DRUGBANK:DB00431", "DrugCentral:1583", "PHAROS:ZXN7GXCRYBU9", "UNII:59NEE7PCAB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:32914", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070525", "medic_mention_id": "MEDICNE:79610155-ee0c-564d-b692-fd7c1dab259c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000981"], "medic_reliability": "MEDIUM", "medic_smiles": "CCCCCCCCCCCCCCCC[n+]1ccccc1.O.[Cl-]", "name": "cetylpyridinium", "provided_by": ["infores:medic"], "synonym": ["Benzidamine + Cetylpyridinium Chloride", "Benzocaine + Cetylpyridinium Chloride", "Cetylpyridinium chloride", "Flurbiprofen + Cetylpyridinium Chloride", "Gramicidin C + Cetylpyridinium Chloride", "Lidocaine + Cetylpyridinium Chloride", "Лидокаин+Цетилпиридиния хлорид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:32954", "medic_application_numbers": ["018893|206687|214805|216920|218469|219826"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["B05XA08"], "medic_earliest_approval_date": "19830504", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9a6ac89f-170b-5d72-a212-888f78bda1f1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002713"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[O-].[Na+]", "name": "sodium acetate", "provided_by": ["infores:medic"], "synonym": ["SODIUM ACETATE", "Sodium Acetate + Sodium Chloride", "Sodium acetate + Sodium chloride + Potassium chloride", "Sodium acetate trihydrate"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3306", "medic_application_numbers": ["017497|017769|017808|020313|073690|076396|076979|209358|212416|212675|213766|215715|215864|216294|219196"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:eb40d439-fe7e-53d5-b007-9999c9d76ffc", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-000088"], "medic_reliability": "HIGH", "name": "calcitonin", "provided_by": ["infores:medic"], "synonym": ["CALCITONIN SALMON", "CALCITONIN SALMON RECOMBINANT", "Calcitonin", "Salmon Calcitonin Injection"], "xref": ["DRUGBANK:DB00017", "UNII:7SFC6U2VI5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3309", "medic_application_numbers": ["208418|210906|213071|216541|216611|217174|217689|219619"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["A12AA03", "B05XA19", "D11AX03"], "medic_earliest_approval_date": "19700928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3956ece9-b71e-50e0-a1c6-a5bdd62f4ce0", "medic_registration_numbers": ["MOH_RUSSIA:70/626/8"], "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO.O=C([O-])[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO.[Ca+2]", "name": "calcium gluconate", "provided_by": ["infores:medic"], "synonym": ["Bromizoval + Calcium Gluconate + Caffeine + Papaverine + Phenobarbital", "CALCIUM GLUCONATE", "Calcium Gluconate + Caffeine + Paracetamol + Rutoside + [Ascorbic Acid]", "Calcium Gluconate and Sodium Chloride Injection", "Calcium gluconate", "葡萄糖酸钙氯化钠注射液"], "xref": ["DRUGBANK:DB11126"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3310", "medic_application_numbers": ["019976|021160|022581|077693|077728|078502|091312|091561|201658|202127|202315|202420|202885|203135|203179|203298|211038|217205"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["V03AE07"], "medic_earliest_approval_date": "19901210", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:24291ba2-e64d-5b9d-afb6-bd88d5f7599c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004276)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[O-].CC(=O)[O-].[Ca+2]", "name": "calcium acetate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM ACETATE", "Calcium Acetate + Magnesium Carbonate", "Calcium Acetate Tablets", "Potassium acetate + Calcium acetate + Magnesium acetate + Sodium acetate + Sodium chloride"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3311", "medic_application_numbers": ["020958|077355|204782"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A02AC01", "A12AA04"], "medic_earliest_approval_date": "20001016", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:8825db1d-47ce-52af-84b9-58e2442a0f08", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001587"], "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])[O-].[Ca+2]", "name": "calcium carbonate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM CARBONATE; FAMOTIDINE; MAGNESIUM HYDROXIDE", "CALCIUM CARBONATE; RISEDRONATE SODIUM", "Calcium Carbonate + Calcium Lactogluconate", "Calcium Carbonate + Cholecalciferol", "Calcium Carbonate + Magnesium Carbonate", "Calcium carbonate", "Calcium carbonate + Sodium alginate + Sodium bicarbonate", "PRECIPITATED CALCIUM CARBONATE"], "xref": ["DRUGBANK:DB06724"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33118", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["S01AX07"], "medic_earliest_approval_date": "19670711", "medic_mention_id": "MEDICNE:fb459104-d4ad-5b47-bccb-3d8eadf9e795", "medic_registration_numbers": ["MOH_RUSSIA:67/554/21"], "medic_reliability": "MEDIUM", "medic_smiles": "O.O.O.O.O.O.O.O.O.O.[Na+].[Na+].[O-]B1OB2OB([O-])OB(O1)O2", "name": "boric acid", "provided_by": ["infores:medic"], "synonym": ["Boric Acid + Nitrofural + [Collagen]", "Boric Acid + Procaine", "Boric Acid + Procaine + Zinc Oxide", "Boric Acid + Zinc Oxide", "Boric Acid + Zinc Sulfate", "Boric acid", "Борная кислота+Прокаин+Цинка оксид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3312", "medic_application_numbers": ["018725"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A12AA07", "B05XA07", "G04BA03"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9c0d1799-9657-5432-a8b2-e320bf3f062e", "medic_reliability": "HIGH", "medic_smiles": "[Ca+2].[Cl-].[Cl-]", "name": "calcium dichloride", "provided_by": ["infores:medic"], "synonym": ["CALCIUM CHLORIDE", "CALCIUM CHLORIDE; MAGNESIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE", "CALCIUM CHLORIDE; MAGNESIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE; SODIUM CITRATE", "CALCIUM CHLORIDE; MAGNESIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE; SODIUM LACTATE", "CALCIUM CHLORIDE; MAGNESIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM CHLORIDE", "CALCIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM ACETATE; SODIUM CHLORIDE", "CALCIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM CHLORIDE", "CALCIUM CHLORIDE; POTASSIUM CHLORIDE; SODIUM CHLORIDE; SODIUM LACTATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33130", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090813", "medic_mention_id": "MEDICNE:5692ea8f-33d2-5579-84d6-d488aa258887", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006456/09"], "medic_reliability": "HIGH", "name": "aluminium hydroxide", "provided_by": ["infores:medic"], "synonym": ["Aluminium hydroxide", "Aluminum hydroxide"], "xref": ["DRUGBANK:DB06723"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3314", "medic_application_numbers": ["006470|080001|083159|089373"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A12AA10"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1626e109-d7c9-51bf-8772-6fc85a17c19c", "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])C(O)[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO.O=C([O-])C(O)[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO.[Ca+2]", "name": "calcium glucoheptonate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM GLUCEPTATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33167", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060602", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:7500fe8f-4b1a-56f7-9f14-3a9e71681ee1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003687"], "medic_reliability": "MEDIUM", "name": "sodium iodide", "provided_by": ["infores:medic"], "synonym": ["Sodium iodide [123I]", "Sodium iodide [131I]", "Натрия йодид [131I]"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:33198", "medic_stub": true, "name": "D-gluconic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33234", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110928", "medic_mention_id": "MEDICNE:f1f16f2c-815a-5166-b25f-d176668569b7", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000149"], "medic_reliability": "MEDIUM", "name": "vitamin E", "provided_by": ["infores:medic"], "synonym": ["Vitamin E 50", "Витамин Е 50"], "xref": ["DrugCentral:3613"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:33301", "medic_stub": true, "name": "bismuth atom", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:33325", "medic_application_numbers": ["203971"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130515", "medic_features": ["METALLIC_SALT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:13e660d6-47ac-5b20-92c2-d0eb468fe98b", "medic_reliability": "LOW", "name": "radium atom", "provided_by": ["infores:medic"], "synonym": ["RADIUM RA-223 DICHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33336", "medic_mention_id": "MEDICNE:946b6e8d-e6d2-5af3-abeb-9207c0f5a9a2", "medic_reliability": "EXCLUDED", "name": "lanthanum atom", "provided_by": ["infores:medic"], "synonym": ["Lanthanum"], "xref": ["DRUGBANK:DB06792"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33382", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20190327", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:80ae91ac-df2e-5d18-9620-74271f9b854b", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001869"], "medic_reliability": "MEDIUM", "name": "lutetium atom", "provided_by": ["infores:medic"], "synonym": ["[177Lu] Lutetium chloride", "Лютеция хлорид [177Lu]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3347", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080229", "medic_mention_id": "MEDICNE:afad0657-20ba-505a-a059-ea9ae96f4b84", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001890"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1nc2cccc(C(=O)OC(C)OC(=O)OC3CCCCC3)c2n1Cc1ccc(-c2ccccc2-c2nn[nH]n2)cc1", "name": "candesartan", "provided_by": ["infores:medic"], "synonym": ["Candesartan", "Candesartan + Hydrochlorothiazide", "Indapamide + Candesartan"], "xref": ["CHEMBL.COMPOUND:CHEMBL1016", "DRUGBANK:DB13919", "GTOPDB:6907", "PHAROS:RWMN5HNLCSWF", "PUBCHEM.COMPOUND:2541", "UNII:S8Q36MD2XX"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:33568", "medic_approved_authorities": ["NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan"], "medic_earliest_approval_date": "20210524", "medic_mention_id": "MEDICNE:9556b493-27e5-533c-ad19-775d28df4c26", "medic_reliability": "HIGH", "name": "adrenaline", "provided_by": ["infores:medic"], "synonym": ["ADRENALINE", "ADRENALINE BITARTRATE", "Adrenaline Hydrochloride Injection", "Adrenaline Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:33709", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231225", "medic_mention_id": "MEDICNE:ae15e6ba-fabc-5f3b-82c4-226506c55701", "medic_reliability": "MEDIUM", "name": "amino acid", "provided_by": ["infores:medic"], "synonym": ["Amino Acid and Glucose Injection", "氨基酸葡萄糖注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3371", "medic_application_numbers": ["050095|202634|204796"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5f30cc20-de38-5d3c-9573-5dabf050789d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000100"], "medic_reliability": "HIGH", "name": "capreomycin", "provided_by": ["infores:medic"], "synonym": ["CAPREOMYCIN SULFATE", "Capreomycin", "Capreomycin Acetate for Injection"], "xref": ["DRUGBANK:DB00314"]}
{"category": ["biolink:Drug"], "id": "CHEBI:337298", "medic_application_numbers": ["021320"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L02BX01"], "medic_earliest_approval_date": "20031125", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b240e0d9-1539-529a-89de-cae56760bb95", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N[C@H](Cc1ccc2ccccc2c1)C(=O)N[C@H](Cc1ccc(Cl)cc1)C(=O)N[C@H](Cc1cccnc1)C(=O)N[C@@H](CO)C(=O)N(C)[C@@H](Cc1ccc(O)cc1)C(=O)N[C@H](CC(N)=O)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCCNC(C)C)C(=O)N1CCC[C@H]1C(=O)N[C@H](C)C(N)=O", "name": "abarelix", "provided_by": ["infores:medic"], "synonym": ["ABARELIX"], "xref": ["CHEMBL.COMPOUND:CHEMBL1252", "DrugCentral:35", "PHAROS:4WS9SJV94YVX", "PUBCHEM.COMPOUND:16131215"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3374", "medic_application_numbers": ["022395"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["M02AB01", "N01BX04"], "medic_earliest_approval_date": "20090515", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dfd614f0-ef7c-5806-bd58-47d2662d080a", "medic_reliability": "HIGH", "medic_smiles": "COc1cc(CNC(=O)CCCC/C=C/C(C)C)ccc1O", "name": "capsaicin", "provided_by": ["infores:medic"], "synonym": ["CAPSAICIN", "Capsaicin", "capsaicin"], "xref": ["CHEMBL.COMPOUND:CHEMBL294199", "DRUGBANK:DB06774", "DrugCentral:3064", "GTOPDB:2486", "PHAROS:JAL94J53FRK2", "PUBCHEM.COMPOUND:1548943", "UNII:S07O44R1ZM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3380", "medic_application_numbers": ["018343|074322|074363|074386|074418|074423|074433|074434|074451|074462|074472|074477|074481|074483|074493|074505|074519|074532|074576|074590|074640|074677|074737|074748|212223|212809|214442"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["C09AA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:92824f78-3527-5a88-9f97-f8521e184b90", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002918"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](CS)C(=O)N1CCC[C@H]1C(=O)O", "name": "captopril", "provided_by": ["infores:medic"], "synonym": ["CAPTOPRIL", "CAPTOPRIL; HYDROCHLOROTHIAZIDE", "Captopril", "Captopril Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1560", "DRUGBANK:DB01197", "DrugCentral:484", "GTOPDB:5158", "PHAROS:DCTASLNAXK1N", "PUBCHEM.COMPOUND:44093", "UNII:9G64RSX1XD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3385", "medic_application_numbers": ["016968|070292|073677"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["N07AB01", "S01EB02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:352bfb05-f9b5-5ecb-9c2f-31bd1476773f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001713"], "medic_reliability": "HIGH", "medic_smiles": "C[N+](C)(C)CCOC(N)=O.[Cl-]", "name": "carbachol", "provided_by": ["infores:medic"], "synonym": ["CARBACHOL", "Carbachol"], "xref": ["CHEMBL.COMPOUND:CHEMBL965,CHEMBL14", "DrugCentral:488", "GTOPDB:298", "PHAROS:RCRXFUJC8CK2", "PUBCHEM.COMPOUND:2551,521353", "UNII:54Z8M50D6Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3387", "medic_application_numbers": ["016608|018281|018927|020234|020712|021710|070231|070300|070429|070541|071479|071696|071940|073524|074649|075687|075712|075714|075875|075948|076525|076697|076729|077272|078115|078592|078986|201106|205571|206030|207798|211623|212524|212704|212948|213159|213284|213311|214277|214328|215591|215664|216193|216235|216404|216594|216623|217277|218221|219072|219939"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["N03AF01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:647a63cd-8285-5060-ac1e-51bc6e9f0bb3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004756"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)N1c2ccccc2C=Cc2ccccc21", "name": "carbamazepine", "provided_by": ["infores:medic"], "synonym": ["CARBAMAZEPINE", "Carbamazepine", "Carbamazepine Extended-Release Tablets (II)", "Carbamazepine Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL108", "DRUGBANK:DB00564", "DrugCentral:489", "PHAROS:7U7WXCCPXPYL", "PUBCHEM.COMPOUND:2554", "UNII:33CM23913M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3393", "medic_application_numbers": ["050298|050306"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01CA03"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e555d46d-08bc-5200-8a67-7e5b6335ea05", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)C(C(=O)O)c3ccccc3)C(=O)N2[C@H]1C(=O)O", "name": "carbenicillin", "provided_by": ["infores:medic"], "synonym": ["CARBENICILLIN DISODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3395", "medic_application_numbers": ["017555|019856|073381|073382|073383|073587|073589|073607|073618|074080|074260|075091|076212|076521|076643|076663|076699|077120|077828|078536|078690|078893|090324|090631|202323|203312|203952|210341|214091|214092|214869|215999|216505|216537|217186|217482|218939"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8e9d09dd-16bd-5dd7-8dc2-843c505693bd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000839)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "carbidopa", "provided_by": ["infores:medic"], "synonym": ["CARBIDOPA", "CARBIDOPA HYDRATE", "CARBIDOPA; ENTACAPONE; LEVODOPA", "CARBIDOPA; LEVODOPA", "Carbidopa", "Levodopa + carbidopa + entacapone", "levodopa;carbidopa;entacapone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200748", "DRUGBANK:DB00190", "DrugCentral:496", "PHAROS:LSRVJ4KDG6SY", "PUBCHEM.COMPOUND:38101", "UNII:KR87B45RGH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3398", "medic_application_numbers": ["008915|008955|022556|040442|040458|040639|040814|090417|090418|090435|090756|207484|215476"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2673e141-0fdc-5f7f-812f-6531fa4f9270", "medic_reliability": "HIGH", "name": "carbinoxamine", "provided_by": ["infores:medic"], "synonym": ["CARBINOXAMINE MALEATE", "Carbinoxamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL864", "DRUGBANK:DB00748", "DrugCentral:499", "PHAROS:A1ZB7PB8KK7U", "PUBCHEM.COMPOUND:2564", "UNII:982A7M02H5"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3403", "medic_atc_codes": ["G02AD04"], "medic_mention_id": "MEDICNE:86db1929-9227-5346-9eca-56daf3408673", "medic_reliability": "EXCLUDED", "medic_smiles": "CCCCC[C@](C)(O)/C=C/[C@@H]1[C@@H](C/C=C\\CCCC(=O)O)[C@@H](O)C[C@H]1O", "name": "carboprost", "provided_by": ["infores:medic"], "synonym": ["Carboprost"], "xref": ["CHEMBL.COMPOUND:CHEMBL1237122", "DRUGBANK:DB19356", "DrugCentral:502", "PHAROS:DPSJ5FBD5ZYB", "PUBCHEM.COMPOUND:5281075", "UNII:7B5032XT6O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3404", "medic_application_numbers": ["017989|211941|213118|214499|215337|215901|216824|216882|216897|216939|217198|217657|218013"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:945655c5-cb30-53ae-ba1c-fcb8a55c1221", "medic_reliability": "HIGH", "name": "carboprost tromethamine", "provided_by": ["infores:medic"], "synonym": ["CARBOPROST TROMETHAMINE", "Carboprost Tromethamine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3419", "medic_application_numbers": ["011792|012155|040124|040152|040188|040245|040397|040421|040576|040755|040792|040823|081025|085433|086179|087499|089346|089390|089566|090988|203374|205085|205126|205513|207237|211789"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["M03BA02", "M03BA52", "M03BA72"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7842e5da-e9b1-5553-9cc0-de9580b55af2", "medic_reliability": "HIGH", "medic_smiles": "CCCC(C)(COC(N)=O)COC(=O)NC(C)C", "name": "carisoprodol", "provided_by": ["infores:medic"], "synonym": ["ASPIRIN; CARISOPRODOL", "ASPIRIN; CARISOPRODOL; CODEINE PHOSPHATE", "CARISOPRODOL", "Carisoprodol"], "xref": ["DRUGBANK:DB00395", "UNII:21925K482H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3423", "medic_application_numbers": ["017422|020637|209278|210179|211011|211202|211229|213207|213460|214117|214814|215000|215368|215730"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01AD01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cb0e43a7-3128-5292-865b-a84def680923", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001899)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=NN(CCCl)C(=O)NCCCl", "name": "carmustine", "provided_by": ["infores:medic"], "synonym": ["CARMUSTINE", "Carmustine", "Carmustine (polifeprosan 20 with carmustine Implant (Wafer)", "carmustine"], "xref": ["CHEMBL.COMPOUND:CHEMBL513", "DRUGBANK:DB00262", "DrugCentral:512", "PHAROS:BDR6KT81M7WL", "PUBCHEM.COMPOUND:2578", "UNII:U68WG3173Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34247", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19990611", "medic_mention_id": "MEDICNE:b0264e55-a08c-5f3a-92a2-797e5dc353e2", "medic_registration_numbers": ["MOH_RUSSIA:99/233/1"], "medic_reliability": "MEDIUM", "name": "2,6-di-tert-butyl-4-methylphenol", "provided_by": ["infores:medic"], "synonym": ["Butylhydroxytoluene", "Бутилгидрокситолуол"], "xref": ["CHEMBL.COMPOUND:CHEMBL146", "PHAROS:1RWDXSUBJJ2W", "PUBCHEM.COMPOUND:31404"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:34283", "medic_stub": true, "name": "oxybenzone", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3437", "medic_application_numbers": ["019204|019972|075476|075546|076097"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["C07AA15", "S01ED05", "S01ED55"], "medic_earliest_approval_date": "19881228", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8d95e2ac-0969-501d-818f-c151c57707d9", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)NCC(O)COc1cccc2c1CCC(=O)N2", "name": "carteolol", "provided_by": ["infores:medic"], "synonym": ["CARTEOLOL HYDROCHLORIDE", "Carteolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL839", "DRUGBANK:DB00521", "DrugCentral:520", "PHAROS:T3XURCZ3344T", "PUBCHEM.COMPOUND:2583", "UNII:8NF31401XG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3438", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19960709", "medic_mention_id": "MEDICNE:54d99de9-6e05-521a-8a79-0120df149b65", "medic_reliability": "MEDIUM", "medic_smiles": "CC(C)(C)NCC(O)COc1cccc2c1CCC(=O)N2.Cl", "name": "carteolol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Carteolol Hcl 5mg Film Coated Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34380", "medic_application_numbers": ["008173"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D11AX13"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9c418e55-c039-573d-bb41-483855c13f23", "medic_reliability": "HIGH", "medic_smiles": "Oc1ccc(OCc2ccccc2)cc1", "name": "monobenzone", "provided_by": ["infores:medic"], "synonym": ["MONOBENZONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1388", "DrugCentral:1834", "PHAROS:LSZJYUAA34AZ", "PUBCHEM.COMPOUND:7638", "UNII:9L2KA76MG5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:34385", "medic_application_numbers": ["022250|206646|206765|206811|206836|206858|206863|208292|210158"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["N07XX07"], "medic_earliest_approval_date": "20100122", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:87b861b6-7d45-532d-8aee-02b582410f02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006620"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ccncc1", "name": "4-aminopyridine", "provided_by": ["infores:medic"], "synonym": ["DALFAMPRIDINE", "Dalfampridine", "Fampridine", "fampridine"], "xref": ["CHEMBL.COMPOUND:CHEMBL284348", "DRUGBANK:DB06637", "DrugCentral:4163", "GTOPDB:2416", "PHAROS:M5RAU2PYY1GR", "PUBCHEM.COMPOUND:1727", "UNII:BH3B64OKL9"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3441", "medic_application_numbers": ["022012|090132|204717"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["C07AG02"], "medic_earliest_approval_date": "19950914", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:39c78e7b-ae95-5c54-93b2-d9a4bfb6d33f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001343"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccccc1OCCNCC(O)COc1cccc2[nH]c3ccccc3c12", "name": "carvedilol", "provided_by": ["infores:medic"], "synonym": ["CARVEDILOL", "CARVEDILOL PHOSPHATE", "Carvedilol", "Carvedilol 12.5mg/25mg Tablet", "Carvedilol 3.125mg/6.25mg (new strength)", "Carvedilol Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL723", "DRUGBANK:DB01136", "DrugCentral:522", "GTOPDB:551", "PHAROS:BM9MKM694U27", "PUBCHEM.COMPOUND:2585", "UNII:0K47UL67F2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34474", "medic_application_numbers": ["012259"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:66b64d24-184a-5a5c-a9d6-235049729005", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12C=CC(=O)C=C1[C@@H](F)C[C@@H]1[C@@H]2[C@@H](O)C[C@@]2(C)[C@H]1CC[C@]2(O)C(=O)CO", "name": "6alpha-Fluoroprednisolone", "provided_by": ["infores:medic"], "synonym": ["FLUPREDNISOLONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200774", "DrugCentral:1216", "PHAROS:AMGKWJSSGBJX", "PUBCHEM.COMPOUND:5876", "UNII:9H05937G3X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34521", "medic_application_numbers": ["009008"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cb11a0d2-4e88-5306-b871-fdba511663bc", "medic_reliability": "HIGH", "name": "Acetrizoic acid", "provided_by": ["infores:medic"], "synonym": ["ACETRIZOATE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34523", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["A03FA10"], "medic_earliest_approval_date": "20130325", "medic_mention_id": "MEDICNE:f8a0e2a6-47ed-5544-a743-d6220449b9db", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001951)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc(O)c(C(=O)Nc2nc(C(=O)NCCN(C(C)C)C(C)C)cs2)cc1OC", "name": "Acotiamide", "provided_by": ["infores:medic"], "synonym": ["ACOTIAMIDE HYDROCHLORIDE HYDRATE", "Acotiamide", "Акотиамид"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107723", "DrugCentral:4908", "PHAROS:PB8913D71P36", "PUBCHEM.COMPOUND:5282338", "UNII:D42OWK5383"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34532", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20110223", "medic_mention_id": "MEDICNE:254302f2-9dc3-5bba-87cf-51c100545c65", "medic_reliability": "HIGH", "name": "Alprostadil alfadex", "provided_by": ["infores:medic"], "synonym": ["ALPROSTADIL ALFADEX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34535", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210315", "medic_mention_id": "MEDICNE:2eeb7707-6c54-5084-83e3-fe562542a479", "medic_reliability": "MEDIUM", "name": "ampicillin sodium", "provided_by": ["infores:medic"], "synonym": ["Ampicillin Sodium for Injection", "注射用氨苄西林钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34536", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:8f5759e9-9dff-54ba-a17b-4f4c2bd4ccb6", "medic_reliability": "MEDIUM", "name": "Amrinone lactate", "provided_by": ["infores:medic"], "synonym": ["Amrinone Lactate 5mg/ml Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34553", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20091222", "medic_mention_id": "MEDICNE:e3fe11e0-6ca3-5de0-8f46-ac75825baef4", "medic_reliability": "MEDIUM", "name": "Balofloxacin", "provided_by": ["infores:medic"], "synonym": ["Balofloxacin Tablet 100mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34582", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19991011", "medic_mention_id": "MEDICNE:4e56d71e-d101-5502-9002-cd50a1ea9193", "medic_reliability": "MEDIUM", "name": "bleomycin sulfate", "provided_by": ["infores:medic"], "synonym": ["Bleomycin Sulphate 5mg/gm Ointment"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34609", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:1ecd5dde-9fdd-50e1-a14e-65d5c9836829", "medic_reliability": "MEDIUM", "name": "carbenicillin disodium", "provided_by": ["infores:medic"], "synonym": ["Carbenicillin Disodium 1gm/vial Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34613", "medic_application_numbers": ["050219"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1db85613-3732-596c-9b7a-e138423d10c4", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccccc3)[C@H]2SC1", "name": "cefaloglycin", "provided_by": ["infores:medic"], "synonym": ["CEPHALOGLYCIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34647", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250909", "medic_mention_id": "MEDICNE:876bef17-7ac0-524b-aa0d-007e3d796b68", "medic_reliability": "MEDIUM", "name": "clindamycin palmitate hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Clindamycin Palmitate Hydrochloride Granules", "盐酸克林霉素棕榈酸酯颗粒"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34650", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20100831", "medic_mention_id": "MEDICNE:ff37005c-77d5-5c7e-aeb1-547b0fd74cc6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006195"], "medic_reliability": "HIGH", "name": "colistimethate sodium", "provided_by": ["infores:medic"], "synonym": ["COLISTIN SODIUM METHANESULFONATE", "Sodium colistimethate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34682", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:55404d19-ef15-50e5-9e35-89df92a14cb7", "medic_reliability": "MEDIUM", "medic_smiles": "CCOP(=S)(OCC)Oc1cc(C)nc(C(C)C)n1", "name": "diazinon", "provided_by": ["infores:medic"], "synonym": ["Diazinon 20% w/w (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34683", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["A06AD17", "A06AG01", "B05XA09", "V03AG05"], "medic_earliest_approval_date": "20121225", "medic_mention_id": "MEDICNE:0567b3b2-97ac-5c95-a075-04e151c2f8a3", "medic_reliability": "HIGH", "medic_smiles": "O=P([O-])([O-])O.[Na+].[Na+]", "name": "disodium hydrogenphosphate", "provided_by": ["infores:medic"], "synonym": ["DIBASIC SODIUM PHOSPHATE ANHYDROUS"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:34730", "medic_application_numbers": ["050007|050442|050533|050582|050744|050751|050783|050795|061717|061953|062031|062119|062142|062269|062337|062391|062392|062396|062418|062421|062432|062434|062442|062450|062462|062463|062469|062475|062479|062494|062497|062500|062505|062538|062569|062581|062593|062594|062631|062653|062676|062677|062763|062764|062992|063187|065095|065103|065134|065163|065182|065277|065281|065287|090134|090431|090505|091052|091406|200856|203276|205931|206772|207289|207494|207558|207757|207773|207774|208253|208263|208741|208765|208818|209243|209372|209393|209402|209560|209844|209969|209987|210527|210536|210537|210664|211012|211137|211343|211418|211584|211744|212487|212610|213075|213475|214207|214356|215583|216599|216690|217078|217487|217685|217794|217854|217972|218053|218753|218888"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:72cccfee-476e-5542-bdf5-e7bf0308e340", "medic_reliability": "HIGH", "medic_smiles": "CCO.C[C@H]1c2cccc(O)c2C(=O)C2=C(O)[C@]3(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@@H]3[C@@H](O)[C@@H]21.C[C@H]1c2cccc(O)c2C(=O)C2=C(O)[C@]3(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@@H]3[C@@H](O)[C@@H]21.Cl.Cl.O", "name": "doxycycline hyclate", "provided_by": ["infores:medic"], "synonym": ["DOXYCYCLINE HYCLATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:34745", "medic_application_numbers": ["085470|085620"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f89fd3d9-c7a4-5c2a-86a8-6b99a5fbfd2d", "medic_reliability": "HIGH", "name": "Estradiol 17beta-cyclopentylpropionate", "provided_by": ["infores:medic"], "synonym": ["ESTRADIOL CYPIONATE"], "xref": ["UNII:7E1DV054LO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34764", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19950912", "medic_mention_id": "MEDICNE:b57a4f87-de6f-5441-9fe6-2d093af6a9e8", "medic_registration_numbers": ["MOH_RUSSIA:П N014868/01"], "medic_reliability": "MEDIUM", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@]2(C)[C@@]1(O)C(=O)COC(=O)C(C)(C)C", "name": "flumethasone", "provided_by": ["infores:medic"], "synonym": ["Clioquinol + Flumethasone", "Flumethasone Eye Drops", "Клиохинол+Флуметазон"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3478", "medic_application_numbers": ["050521|050522|050673|062205|062206|064061|064070|064081|064085|064086|064087|064107|064110|064114|064115|064116|064145|064148|064155|064156|064164|064165|064166|064204|064205|064206|064207|065057|065058|065092|065146|065350|065412"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "usa"], "medic_atc_codes": ["J01DC04"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:337503a2-a02c-504c-8125-f42e52a822c6", "medic_reliability": "HIGH", "medic_smiles": "N[C@@H](C(=O)N[C@@H]1C(=O)N2C(C(=O)O)=C(Cl)CS[C@H]12)c1ccccc1.O", "name": "cefaclor", "provided_by": ["infores:medic"], "synonym": ["CEFACLOR", "Cefaclor", "Cefaclor 375mg/750mg MR Tablet", "Cefaclor Capsules", "Cefaclor Extended-Release Tablets", "Cefaclor Extended-Release Tablets (II)", "Cefaclor Granules", "i)Cefaclor Monohydrate 250mg/500mg Capsule. ii)Cefaclor Monohydrate 125mg/5ml & 250mg/5ml Suspension. iii)Cefaclor Monohydrate 100mg/ml Drops. iv)Cefaclor 187mg/5ml Suspension (For paediatric use)."], "xref": ["DRUGBANK:DB00833", "UNII:3Z6FS3IK0K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3479", "medic_application_numbers": ["050512|050527|050528|062291|062334|062376|062378|062390|062408|062695|062698|062766|062774|063017|065015|065018|065115|065260|065278|065282|065301|065307|065309|065311|065349|065352|065392|065396|091036|205072"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["J01DB05"], "medic_earliest_approval_date": "19810101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ecda37a5-8c24-567c-94f8-c71fcb6febfa", "medic_reliability": "HIGH", "medic_smiles": "CC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccc(O)cc3)[C@H]2SC1", "name": "cefadroxil", "provided_by": ["infores:medic"], "synonym": ["CEFADROXIL/CEFADROXIL HEMIHYDRATE", "Cefadroxil", "Cefadroxil 250mg Dispersible Tablet", "Cefadroxil 500mg/1gm Tablet/Capsule"], "xref": ["DRUGBANK:DB01140", "UNII:Q525PA8JJB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34791", "medic_application_numbers": ["008472"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:76645ff4-29bd-5fb5-a6be-ff7f7e44b692", "medic_reliability": "HIGH", "name": "Hexylcaine", "provided_by": ["infores:medic"], "synonym": ["HEXYLCAINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1197", "DrugCentral:1373", "PHAROS:WD2ADLF52PMU", "PUBCHEM.COMPOUND:10770", "UNII:511IU0826Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3480", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060804", "medic_mention_id": "MEDICNE:5020d104-761d-551c-b3fe-4f0e5237e30a", "medic_registration_numbers": ["MOH_RUSSIA:П N015918/01"], "medic_reliability": "MEDIUM", "name": "cefamandole", "provided_by": ["infores:medic"], "synonym": ["Cefamandol", "Цефамандол"], "xref": ["CHEMBL.COMPOUND:CHEMBL1360024,CHEMBL1146", "PHAROS:K5U5GAKNM2PV", "PUBCHEM.COMPOUND:101834453,456255"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3481", "medic_application_numbers": ["050504|062560"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:39978235-fa52-5b10-9b05-bb80ddf69914", "medic_reliability": "HIGH", "name": "cefamandole nafate", "provided_by": ["infores:medic"], "synonym": ["CEFAMANDOLE NAFATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:34825", "medic_application_numbers": ["204153"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["D01AC18"], "medic_earliest_approval_date": "20090603", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aeaff508-b547-53be-997d-3398359ca68a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012908)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "N#C/C(=C1/SC[C@@H](c2ccc(Cl)cc2Cl)S1)n1ccnc1", "name": "Luliconazole", "provided_by": ["infores:medic"], "synonym": ["LULICONAZOLE", "Luliconazole", "Luliconazole Cream 1%", "Luliconazole lotion 1 % W/V (new Dosage Form)"], "xref": ["DRUGBANK:DB08933", "UNII:RE91AN4S8G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34829", "medic_application_numbers": ["016624"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["S01BA08"], "medic_earliest_approval_date": "19710101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:dbacdfa5-a253-5799-868a-585c7d2cb881", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[C@H]1CC[C@H]2[C@@H]3C[C@H](C)C4=CC(=O)CC[C@]4(C)[C@H]3[C@@H](O)C[C@]12C", "name": "Medrysone", "provided_by": ["infores:medic"], "synonym": ["MEDRYSONE", "Medrysone USP 1% Ophthalmic Suspension"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201173", "DrugCentral:1662", "PHAROS:NS27PLGVQ8T4", "PUBCHEM.COMPOUND:247839", "UNII:D2UFC189XF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3483", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210112", "medic_mention_id": "MEDICNE:c9bf9c9e-93e0-5b0c-9ee8-01dbe6d84e11", "medic_reliability": "MEDIUM", "name": "cefazolin sodium", "provided_by": ["infores:medic"], "synonym": ["Cefazolin Sodium for Injection", "注射用头孢唑林钠"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3485", "medic_application_numbers": ["050739|050749|065259|065264|065330|065332|065337|065368|065418|065429|065434|065473|210220|210534"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19971204", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:caf8913c-beff-5d14-8c09-ffc3aa1ad0e8", "medic_reliability": "HIGH", "medic_smiles": "C=CC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)C(=NO)c3csc(N)n3)[C@H]2SC1", "name": "cefdinir", "provided_by": ["infores:medic"], "synonym": ["CEFDINIR", "Cefdinir", "Cefdinir Capsules", "Cefdinir Granules", "Cefdinir Tablets"], "xref": ["DRUGBANK:DB00535", "UNII:CI0FAO63WC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34888", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["M01AX02", "M02AA17"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:9aae72e4-7499-5fc1-a0de-b40c9bd5b4b4", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1cccnc1Nc1cccc(C(F)(F)F)c1", "name": "Niflumic acid", "provided_by": ["infores:medic"], "synonym": ["Niflumic Acid 250mg Capsule", "Niflumic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL63323", "DrugCentral:1925", "GTOPDB:2439", "PHAROS:4VJD167PTD4T", "PUBCHEM.COMPOUND:4488", "UNII:4U5MP5IUD8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3489", "medic_application_numbers": ["050637|050683"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["J01DC09"], "medic_earliest_approval_date": "19891211", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5fc7cf3c-527c-590a-aa49-2b681bc05945", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-009038/10"], "medic_reliability": "HIGH", "medic_smiles": "CO[C@@]1(NC(=O)CSCC#N)C(=O)N2C(C(=O)O)=C(CSc3nnnn3C)CS[C@@H]21", "name": "cefmetazole", "provided_by": ["infores:medic"], "synonym": ["CEFMETAZOLE SODIUM", "Cefmetazole", "Cefmetazole Hydrochloride for Injection", "Cefmetazole Sodium and Sodium Chloride Injection", "注射用头孢美唑钠/氯化钠注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34894", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:d3be931d-4523-5207-affa-fad0e61f65e5", "medic_reliability": "MEDIUM", "name": "Norethindrone enanthate", "provided_by": ["infores:medic"], "synonym": ["Norethisterone Enanthate Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3490", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210721", "medic_mention_id": "MEDICNE:68322239-f6b5-54e6-b828-2b9923315e62", "medic_reliability": "MEDIUM", "name": "cefmetazole sodium", "provided_by": ["infores:medic"], "synonym": ["Cefmetazole Sodium for Injection", "注射用头孢美唑钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3491", "medic_application_numbers": ["050579|063295"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19840523", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ec98ba63-1000-5aab-b2d5-14ece458f0e6", "medic_reliability": "HIGH", "name": "cefonicid", "provided_by": ["infores:medic"], "synonym": ["CEFONICID SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34910", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20010529", "medic_mention_id": "MEDICNE:67114b0b-0eac-560a-947f-70a965e812b6", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001306"], "medic_reliability": "LOW", "name": "pentetrazol", "provided_by": ["infores:medic"], "synonym": ["Corvalol", "Корвалол"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:34911", "medic_application_numbers": ["019435|019855|019918|074806|075014|076090|076369|209732|211303"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["P03AC04", "P03AC54"], "medic_earliest_approval_date": "19860331", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:740569e6-b9e1-514d-9534-b75b1b2b1b30", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-002243/07"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)C(C=C(Cl)Cl)C1C(=O)OCc1cccc(Oc2ccccc2)c1", "name": "permethrin", "provided_by": ["infores:medic"], "synonym": ["PERMETHRIN", "Permethrin", "Permethrin 5% Cream"], "xref": ["UNII:509F88P9SZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34916", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["P03AC03", "P03AC53"], "medic_earliest_approval_date": "20140324", "medic_mention_id": "MEDICNE:dbe1144d-b1d8-5ccb-a2fb-8f0bbb61dd47", "medic_reliability": "HIGH", "medic_smiles": "CC(C)=CC1C(C(=O)OCc2cccc(Oc3ccccc3)c2)C1(C)C", "name": "phenothrin", "provided_by": ["infores:medic"], "synonym": ["PHENOTHRIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34918", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:99356a3d-ead9-5864-9228-2f81ae89a3ec", "medic_registration_numbers": ["MOH_RUSSIA:64/228/278"], "medic_reliability": "LOW", "name": "phenyl salicylate", "provided_by": ["infores:medic"], "synonym": ["Phenylsalicylate", "Фенилсалицилат"], "xref": ["UNII:28A37T47QO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34923", "medic_application_numbers": ["019456"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e22b5e19-d598-54c9-9d44-e181d61cd48e", "medic_reliability": "HIGH", "name": "Pinacidil", "provided_by": ["infores:medic"], "synonym": ["PINACIDIL"], "xref": ["CHEMBL.COMPOUND:CHEMBL1159", "DrugCentral:2173", "PHAROS:QNCQVXFA1ZP4", "PUBCHEM.COMPOUND:4826", "UNII:BB4UGO5K0D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3493", "medic_application_numbers": ["050551|050613|063333"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["J01DD12"], "medic_earliest_approval_date": "19821118", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f96d5555-c7f3-56f6-a1dd-a8595b39b9c3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001608"], "medic_reliability": "HIGH", "medic_smiles": "CCN1CCN(C(=O)N[C@@H](C(=O)N[C@@H]2C(=O)N3C(C(=O)O)=C(CSc4nnnn4C)CS[C@H]23)c2ccc(O)cc2)C(=O)C1=O", "name": "cefoperazone", "provided_by": ["infores:medic"], "synonym": ["CEFOPERAZONE SODIUM", "Cefoperazone", "Cefoperazone Sodium and Sulbactam Sodium for Injection", "注射用头孢哌酮钠舒巴坦钠"], "xref": ["CHEMBL.COMPOUND:CHEMBL507674", "PHAROS:97K8CKBA4QBX", "PUBCHEM.COMPOUND:44187"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3494", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220516", "medic_mention_id": "MEDICNE:10b51a50-a129-5b54-b7d0-1ef0b74afcb4", "medic_reliability": "MEDIUM", "medic_smiles": "CCN1CCN(C(=O)N[C@@H](C(=O)N[C@@H]2C(=O)N3C(C(=O)[O-])=C(CSc4nnnn4C)CS[C@H]23)c2ccc(O)cc2)C(=O)C1=O.[Na+]", "name": "Cefoperazone sodium", "provided_by": ["infores:medic"], "synonym": ["Cefoperazone Sodium for Injection", "注射用头孢哌酮钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34945", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20190415", "medic_mention_id": "MEDICNE:71454e73-a146-5cb1-9dd1-57fa4decab45", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005471"], "medic_reliability": "HIGH", "name": "RU-0211", "provided_by": ["infores:medic"], "synonym": ["Lubiprostone"], "xref": ["DRUGBANK:DB01046"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3495", "medic_application_numbers": ["050554|062579"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01DC11"], "medic_earliest_approval_date": "19840524", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:587b1de1-d88d-59ab-8bcb-33078ea4ad3e", "medic_reliability": "HIGH", "medic_smiles": "NCc1ccccc1CC(=O)N[C@@H]1C(=O)N2C(C(=O)O)=C(CSc3nnnn3CC(=O)O)CS[C@H]12", "name": "ceforanide", "provided_by": ["infores:medic"], "synonym": ["CEFORANIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34967", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A08AX01"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:286cf24c-e344-5d34-8401-fb2fc4323f43", "medic_reliability": "MEDIUM", "medic_smiles": "Cc1c(C(=O)NN2CCCCC2)nn(-c2ccc(Cl)cc2Cl)c1-c1ccc(Cl)cc1", "name": "rimonabant", "provided_by": ["infores:medic"], "synonym": ["Rimonabant tablet 20mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL111,CHEMBL558598", "DrugCentral:4150", "PHAROS:6DPN7BGNLNKX", "PUBCHEM.COMPOUND:104850,104849", "UNII:RML78EN3XE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:34969", "medic_application_numbers": ["218808|218820"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b9d305a7-7910-5e98-8129-97086a5ae204", "medic_reliability": "HIGH", "medic_smiles": "C#CCN(c1nc(-c2cc(C)c(OC)cc2Cl)c(C)s1)[C@@H](CC1CC1)c1ccc(C)c(F)c1", "name": "SSR 125543", "provided_by": ["infores:medic"], "synonym": ["CRINECERFONT", "Crinecerfont"], "xref": ["DRUGBANK:DB18518", "UNII:MFT24BX55I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:34972", "medic_application_numbers": ["018290"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6fced1de-513e-5e5a-8ec0-fcb00a61d554", "medic_reliability": "HIGH", "name": "secretin", "provided_by": ["infores:medic"], "synonym": ["SECRETIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3498", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20060203", "medic_mention_id": "MEDICNE:dfd4a96d-1403-5a7c-8589-acbc712caae5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000261"], "medic_reliability": "HIGH", "name": "cefotaxime sodium", "provided_by": ["infores:medic"], "synonym": ["Cefotaxime", "Cefotaxime Sodium for Injection"], "xref": ["DRUGBANK:DB00493"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3499", "medic_application_numbers": ["050588|050694|063293|065374|065375|065430|091030|091031"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19851227", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:540e9279-801a-547d-9517-47dbc8aabaa1", "medic_reliability": "HIGH", "name": "cefotetan", "provided_by": ["infores:medic"], "synonym": ["CEFOTETAN DISODIUM", "Cefotetan"], "xref": ["DRUGBANK:DB01330", "UNII:48SPP0PA9Q"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35020", "medic_mention_id": "MEDICNE:130e88b1-d370-50ce-8df7-4a5420f34d04", "medic_reliability": "EXCLUDED", "name": "tributyrin", "provided_by": ["infores:medic"], "synonym": ["Tributyrin"], "xref": ["DRUGBANK:DB12709"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3503", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["J01DE02"], "medic_earliest_approval_date": "20080101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:322f4da6-3762-5441-a155-532d91342a2b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000341"], "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(C[n+]3cccc4c3CCC4)CS[C@H]12)c1csc(N)n1", "name": "cefpirome", "provided_by": ["infores:medic"], "synonym": ["Cefpirom", "Cefpirome (as sulphate) 500/1000mg/2000mg + Sulbactam (as sodium ) 250mg/500mg/1000mg powder for injection", "Cefpirome Hydrochloride and Sodium Chloride Injection", "Cefpirome Hydrochloride for Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3504", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20070730", "medic_mention_id": "MEDICNE:d4913d81-0b95-5d9d-9aeb-25c666da76a6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001006"], "medic_reliability": "HIGH", "medic_smiles": "COCC1=C(C(=O)OC(C)OC(=O)OC(C)C)N2C(=O)[C@@H](NC(=O)/C(=N\\OC)c3csc(N)n3)[C@H]2SC1", "name": "cefpodoxime", "provided_by": ["infores:medic"], "synonym": ["Cefpodoxime", "Cefpodoxime (as Proxetil) (100mg/200mg) + Clavulanic acid (62.5/125mg) tablet.", "Cefpodoxime IP 100mg/100mg/200mg/200mg +Ofloxacin IP 100mg/200mg/100mg/200mg Tablets"], "xref": ["DRUGBANK:DB01416", "UNII:7R4F94TVGY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3505", "medic_application_numbers": ["050674|050675|050687|050688|065082|065083|065370|065388|065409|065462|090031|210568"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19920807", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aecada7b-2c63-5763-9648-f98d8067d3ca", "medic_reliability": "HIGH", "name": "cefpodoxime proxetil", "provided_by": ["infores:medic"], "synonym": ["CEFPODOXIME PROXETIL", "Cefpodoxime Proxetil Tablets"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3506", "medic_application_numbers": ["050664|050665|065198|065202|065208|065235|065236|065257|065261|065267|065276|065284|065327|065340|065351|065381|065428|090857"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19911223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c4e131d7-fcf5-55e7-bba9-e80437874606", "medic_reliability": "HIGH", "medic_smiles": "CC=CC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccc(O)cc3)[C@H]2SC1", "name": "cefprozil", "provided_by": ["infores:medic"], "synonym": ["CEFPROZIL", "Cefprozil", "Cefprozil Granules", "Cefprozil Tablets"], "xref": ["DRUGBANK:DB01150", "UNII:1M698F4H4E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3508", "medic_application_numbers": ["050578|050646|050823|062640|062655|062662|062739|063322|064006|064008|064032|065196|065481|065482"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_atc_codes": ["J01DD02"], "medic_earliest_approval_date": "19850719", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:579ab184-66c7-5499-bc00-8d2e3406f459", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(O/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(C[n+]3ccccc3)CS[C@H]12)c1csc(N)n1)C(=O)O", "name": "ceftazidime", "provided_by": ["infores:medic"], "synonym": ["CEFTAZIDIME", "CEFTAZIDIME HYDRATE", "CEFTAZIDIME SODIUM", "Ceftazidime + Sulbactam (500/1000mg + 250/500mg) Injection", "Ceftazidime + Tobramycin injection (1gm + 120mg) (Additional Strength)", "Ceftazidime 500mg/1000mg + Sulbactam (As Sodium) 250mg/500mg For injection", "ceftazidime;avibactam"], "xref": ["UNII:DZR1ENT301"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3509", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060602", "medic_mention_id": "MEDICNE:3688562b-a80b-52e5-9986-500dca02f07b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000056"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(O/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(C[n+]3ccccc3)CS[C@H]12)c1csc(N)n1)C(=O)O.O.O.O.O.O", "name": "ceftazidime pentahydrate", "provided_by": ["infores:medic"], "synonym": ["Ceftazidime"], "xref": ["DRUGBANK:DB00438"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3510", "medic_application_numbers": ["050685|050686"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J01DD14"], "medic_earliest_approval_date": "19951220", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:706af437-9135-5a36-8fc8-3633bd67db87", "medic_registration_numbers": ["MOH_RUSSIA:П N013725/01"], "medic_reliability": "HIGH", "medic_smiles": "Nc1nc(/C(=C/CC(=O)O)C(=O)N[C@@H]2C(=O)N3C(C(=O)O)=CCS[C@H]23)cs1", "name": "ceftibuten", "provided_by": ["infores:medic"], "synonym": ["CEFTIBUTEN DIHYDRATE", "Ceftibuten"], "xref": ["UNII:IW71N46B4Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35149", "medic_application_numbers": ["021850|022456"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20060324", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:df49cfae-b95c-53ba-880f-bf8a35315e74", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000052"], "medic_reliability": "HIGH", "name": "magnesium hydroxide", "provided_by": ["infores:medic"], "synonym": ["Algeldrate + Benzocaine + Magnesium Hydroxide", "Algeldrate + Magnesium Hydroxide", "Algeldrate + Magnesium Hydroxide + Simethicone", "Hydrotalcite + Magnesium Hydroxide", "MAGNESIUM HYDROXIDE; OMEPRAZOLE; SODIUM BICARBONATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3515", "medic_application_numbers": ["050558|050643|050780|062590|062591|062592|064035|064036|064124|064125|064191|064192|065001|065002|065046|065048|065251|065483|065484|065503"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "19831019", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:031ae461-120b-5bfc-b01c-e678dfffdcb6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000037"], "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)OC(C)OC(C)=O)=C(COC(N)=O)CS[C@H]12)c1ccco1", "name": "cefuroxime", "provided_by": ["infores:medic"], "synonym": ["CEFUROXIME SODIUM", "Cefuroxime", "Cefuroxime Sodium and Sodium Chloride Injection", "注射用头孢呋辛钠/氯化钠注射液"], "xref": ["DRUGBANK:DB01112", "UNII:O1R9FJ93ED"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3516", "medic_application_numbers": ["050605|050672|065043|065069|065118|065126|065135|065166|065190|065308|065323|065359|065496"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "usa"], "medic_earliest_approval_date": "19871228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0b11e51c-4057-59c7-a692-ad676a8c979d", "medic_reliability": "HIGH", "name": "Cefuroxime axetil", "provided_by": ["infores:medic"], "synonym": ["CEFUROXIME AXETIL", "Cefuroxime Axetil (250mg) + Clavulanic Acid (125mg) Tablet.", "Cefuroxime Axetil Capsules", "Cefuroxime Axetil Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3517", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19980110", "medic_mention_id": "MEDICNE:b30980f9-a333-567c-8ee9-5ad741a1939b", "medic_reliability": "MEDIUM", "name": "Cefuroxime sodium", "provided_by": ["infores:medic"], "synonym": ["Cefuroxime Sodium for Injection", "注射用头孢呋辛钠"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:35176", "medic_application_numbers": ["019229|209377|214597|216135|216145|216249|217074|217624|218059|219585"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A12CB01", "B05XA18"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:677654e0-2e2b-5f1e-9ab0-f7f397aefdf3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000327)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=S(=O)([O-])[O-].[Zn+2]", "name": "zinc sulfate", "provided_by": ["infores:medic"], "synonym": ["Hydrocortisone + Zinc Sulfate", "ZINC SULFATE", "Zinc Sulphate IP 200mg Capsule"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3534", "medic_application_numbers": ["050405|050406|050440|061969|062117|062118|062702|062703|062713|062745|062760|062761|062767|062768|062773|062775|062777|062778|062779|062781|062791|062809|062821|062823|062826|062827|062863|062867|062869|062870|062871|062872|062873|062973|062974|062986|062987|063024|063063|063186|065007|065081|065100|065152|065215|065229|065234|065248|065253|065326|065336|065444|090836|210221|218817|218947"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76ed6079-4649-5f5e-884c-8126ec4928c8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(013788)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)[C@H](N)c3ccccc3)[C@H]2SC1", "name": "cephalexin", "provided_by": ["infores:medic"], "synonym": ["CEPHALEXIN", "CEPHALEXIN HYDROCHLORIDE", "Cefalexin", "Cefalexin Capsules", "Cefalexin Granules", "Cefalexin Hydrochloride Capsules", "Cefalexin Tablets"], "xref": ["UNII:5SFF1W6677"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3535", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:76ed6079-4649-5f5e-884c-8126ec4928c8", "medic_registration_numbers": ["MOH_RUSSIA:85/1646/7"], "medic_reliability": "HIGH", "name": "cephalexin monohydrate", "provided_by": ["infores:medic"], "synonym": ["Cephalexin"], "xref": ["DRUGBANK:DB00567"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3542", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:f9d00430-0d9d-5bcd-8e9c-61b8adc36127", "medic_reliability": "MEDIUM", "name": "cephalothin sodium", "provided_by": ["infores:medic"], "synonym": ["Cephalothin Sodium (Bulk)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3547", "medic_application_numbers": ["050530|050548|061763|061764|061859|061866|061976|062683|062693|062762|062813|062850|062851|062858|062859"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["J01DB09"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8400549f-39e0-55a1-9d2a-6ba846135975", "medic_reliability": "HIGH", "medic_smiles": "CC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)[C@H](N)C3=CCC=CC3)[C@H]2SC1", "name": "cephradine", "provided_by": ["infores:medic"], "synonym": ["CEPHRADINE", "Cefradine", "Cephradine", "Cephradine 250mg/500mg Capsule", "Cephradine 250mg/5ml Suspension"], "xref": ["DRUGBANK:DB01333"]}
{"category": ["biolink:Drug"], "id": "CHEBI:354984", "medic_application_numbers": ["061596|061613"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a2414535-792e-56e0-8931-93be7465f1f7", "medic_reliability": "HIGH", "name": "candicidin", "provided_by": ["infores:medic"], "synonym": ["CANDICIDIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35505", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_mention_id": "MEDICNE:dc1447d7-e46c-5a3e-a684-c543b2bd4d44", "medic_reliability": "HIGH", "name": "hydrate", "provided_by": ["infores:medic"], "synonym": ["HYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:355510", "medic_application_numbers": ["050601"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19881230", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:165d65a1-cf8f-5e6e-a990-68357e6b8295", "medic_reliability": "HIGH", "name": "cefotiam", "provided_by": ["infores:medic"], "synonym": ["CEFOTIAM HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3558", "medic_application_numbers": ["020740"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C10AA06"], "medic_earliest_approval_date": "19970626", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:72c1785b-98c4-56c0-902b-c3bf4378a4a7", "medic_reliability": "HIGH", "medic_smiles": "COCc1c(C(C)C)nc(C(C)C)c(/C=C/[C@@H](O)C[C@@H](O)CC(=O)O)c1-c1ccc(F)cc1", "name": "cerivastatin", "provided_by": ["infores:medic"], "synonym": ["CERIVASTATIN SODIUM"], "xref": ["CHEMBL.COMPOUND:CHEMBL1477", "DrugCentral:577", "GTOPDB:2950", "PHAROS:D9FUQWJDU71Y", "PUBCHEM.COMPOUND:446156", "UNII:AM91H2KS67"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3559", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20000511", "medic_mention_id": "MEDICNE:2c2062cf-4dbd-5b33-a11a-5efb09193782", "medic_reliability": "MEDIUM", "medic_smiles": "COCc1c(C(C)C)nc(C(C)C)c(/C=C/[C@@H](O)C[C@@H](O)CC(=O)[O-])c1-c1ccc(F)cc1.[Na+]", "name": "cerivastatin sodium", "provided_by": ["infores:medic"], "synonym": ["Cerivastatin Sodium 100mcg/200mcg/300mcg Tablet"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3561", "medic_application_numbers": ["019835|020346|021621|022155|022429|022578|076047|076601|076677|077279|077318|077472|077498|077499|077631|077829|077946|078072|078317|078336|078343|078398|078412|078427|078488|078496|078615|078617|078680|078692|078757|078780|078862|078870|078876|078933|079191|090142|090182|090183|090188|090191|090254|090300|090378|090474|090572|090750|090751|090760|090765|090766|091116|091130|091327|201546|202277|204226|205291|205490|206793|207235|208694|209107|209274|210622|211415|212266|213105|213557|218895|220335"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["R06AE07", "S01GX12"], "medic_earliest_approval_date": "19960927", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:dde35903-76cb-5b1f-b257-c6f72387cbdd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004440"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)COCCN1CCN(C(c2ccccc2)c2ccc(Cl)cc2)CC1", "name": "cetirizine", "provided_by": ["infores:medic"], "synonym": ["CETIRIZINE HYDROCHLORIDE", "CETIRIZINE HYDROCHLORIDE; PSEUDOEPHEDRINE HYDROCHLORIDE", "Cetirizine", "Phenylephrine + Cetirizine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1000", "DRUGBANK:DB00341", "DrugCentral:581", "GTOPDB:1222", "PHAROS:5XYT51ZQWLNN", "PUBCHEM.COMPOUND:2678", "UNII:YO7261ME24"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3562", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19941107", "medic_mention_id": "MEDICNE:51461180-d1c7-5ce6-bcc1-39c22886c3ba", "medic_reliability": "MEDIUM", "name": "Cetirizine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Cetirizine Hydrochloride Injection", "Cetirizine Hydrochloride Tablets", "盐酸西替利嗪片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35677", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N07CA01"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:c84561d0-1956-5ed0-88f7-2ea14464ce4b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000084"], "medic_reliability": "HIGH", "medic_smiles": "CNCCc1ccccn1", "name": "betahistine", "provided_by": ["infores:medic"], "synonym": ["Betahistine", "Betahistine dihydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL4298035", "DRUGBANK:DB06698", "DrugCentral:346", "PHAROS:JSTBVXS1B5JX", "UNII:X32KK4201D"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:35702", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081215", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:bd81731f-492b-52d2-9d43-32ceaeb3fa43", "medic_registration_numbers": ["MOH_RUSSIA:Р N002441/01"], "medic_reliability": "MEDIUM", "name": "diethyl ether", "provided_by": ["infores:medic"], "synonym": ["Diethyl ether", "Эфир диэтиловый"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35722", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19960226", "medic_mention_id": "MEDICNE:0486a2b3-dd08-5a15-8cf0-568bcb891ac6", "medic_registration_numbers": ["MOH_RUSSIA:96/69/3"], "medic_reliability": "MEDIUM", "name": "sulfated glycosaminoglycan", "provided_by": ["infores:medic"], "synonym": ["Sulfated glycosaminoglycans", "Гликозаминогликаны сульфатированные"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35739", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080919", "medic_mention_id": "MEDICNE:e1ac61de-4e8a-5215-9dad-942d3bb663f3", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-007578/08"], "medic_reliability": "MEDIUM", "name": "pentetic acid", "provided_by": ["infores:medic"], "synonym": ["Diethylenetriaminepentaacetic acid", "Кислота диэтилентриаминпентауксусная"], "xref": ["UNII:7A314HQM0I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:35854", "medic_application_numbers": ["020487|076588|077135|077478|077655|078070|078518|078656|079012|079137|090216|090370|090500|090682|201506|203047|209553"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19950623", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4e4aae0c-8a5a-54f3-95b1-130d3755796b", "medic_reliability": "HIGH", "name": "valacyclovir", "provided_by": ["infores:medic"], "synonym": ["VALACYCLOVIR HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:35940", "medic_application_numbers": ["017638|018087"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["V04CJ02"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a656d8f5-1570-56b5-a74c-187bb1ad3ad2", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001458"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)[C@@H]1CCCN1C(=O)[C@H](Cc1c[nH]cn1)NC(=O)[C@@H]1CCC(=O)N1", "name": "protirelin", "provided_by": ["infores:medic"], "synonym": ["PROTIRELIN", "Protirelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1472", "DrugCentral:2316", "PHAROS:J8HXVC75UP3T", "PUBCHEM.COMPOUND:638678", "UNII:5Y5F15120W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3611", "medic_application_numbers": ["017813|085481|085482|085488"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["N05BA02"], "medic_earliest_approval_date": "19811203", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d40880a6-d0b1-5211-9b2d-31b21a8dbbf6", "medic_registration_numbers": ["MOH_RUSSIA:81/1234/4"], "medic_reliability": "HIGH", "medic_smiles": "CNC1=Nc2ccc(Cl)cc2C(c2ccccc2)=[N+]([O-])C1", "name": "chlordiazepoxide", "provided_by": ["infores:medic"], "synonym": ["CHLORDIAZEPOXIDE", "CHLORDIAZEPOXIDE HYDROCHLORIDE", "CHLORDIAZEPOXIDE HYDROCHLORIDE; CLIDINIUM BROMIDE", "CHLORDIAZEPOXIDE; ESTROGENS, ESTERIFIED", "Chlordiazepoxide"], "xref": ["CHEMBL.COMPOUND:CHEMBL451", "DRUGBANK:DB00475", "DrugCentral:594", "GTOPDB:3370", "PHAROS:531SMB643Q29", "PUBCHEM.COMPOUND:2712", "UNII:6RZ6XEZ3CR"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3619", "medic_application_numbers": ["011467"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["M03BB02", "M03BB52", "M03BB72"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b73ad735-fb86-5236-972d-14fb106381ee", "medic_reliability": "HIGH", "medic_smiles": "CN1C(=O)CCS(=O)(=O)C1c1ccc(Cl)cc1", "name": "chlormezanone", "provided_by": ["infores:medic"], "synonym": ["CHLORMEZANONE", "Chlormezanone 100mg Tablet"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:36219", "medic_stub": true, "name": "alpha-lactose", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:36383", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20090420", "medic_mention_id": "MEDICNE:e51a849f-b6c4-5b4a-8a1e-ef4d4873a553", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011128)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "[Cl-].[Cl-].[Sr+2]", "name": "strontium dichloride", "provided_by": ["infores:medic"], "synonym": ["Strontium Chloride [89Sr] Injection", "Strontium chloride [89Sr]", "Стронция хлорид [89Sr]"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3641", "medic_application_numbers": ["008102|011444|016235|084652"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["G03CA06"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fddbf87f-4555-57af-8a80-601043dbfd24", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(C(Cl)=C(c2ccc(OC)cc2)c2ccc(OC)cc2)cc1", "name": "chlorotrianisene", "provided_by": ["infores:medic"], "synonym": ["CHLOROTRIANISENE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200761", "DrugCentral:610", "PHAROS:V2DLZL1WWWD6", "PUBCHEM.COMPOUND:11289", "UNII:6V5034L121"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3643", "medic_application_numbers": ["014217"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f9bb5483-2cdb-53ba-ad8a-c70113e55d29", "medic_reliability": "HIGH", "name": "chlorphenesin carbamate", "provided_by": ["infores:medic"], "synonym": ["CHLORPHENESIN CARBAMATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:364453", "medic_application_numbers": ["018550"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19871231", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fc8f07ab-4679-515b-8d54-a7fdd4903deb", "medic_reliability": "HIGH", "medic_smiles": "CC(C(=O)O)c1ccc2c(c1)[nH]c1ccc(Cl)cc12", "name": "carprofen", "provided_by": ["infores:medic"], "synonym": ["CARPROFEN"], "xref": ["CHEMBL.COMPOUND:CHEMBL1316", "DrugCentral:518", "GTOPDB:7141", "PHAROS:H5QXSQKN9H1S", "PUBCHEM.COMPOUND:2581", "UNII:FFL0D546HO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3645", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:be306508-a996-50b8-83eb-cad607acab7a", "medic_reliability": "MEDIUM", "name": "Chlorpheniramine maleate", "provided_by": ["infores:medic"], "synonym": ["Chlorphenamine Maleate Injection", "Chlorphenamine Maleate Tablets", "Chlorpheniramne Maleate USP 8mg Sustained Release Tablet", "马来酸氯苯那敏片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3646", "medic_application_numbers": ["014696"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1e28db9e-f0c8-59e1-b4db-dc3da866fdd0", "medic_reliability": "HIGH", "name": "Chlorphentermine", "provided_by": ["infores:medic"], "synonym": ["CHLORPHENTERMINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201269", "DrugCentral:618", "PHAROS:J7U61FW7SXJX", "PUBCHEM.COMPOUND:10007", "UNII:NHW07912O7"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3720", "medic_application_numbers": ["020210|020398|020767"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19930729", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f3cb02e6-a825-5622-a800-9c6266c9ddd1", "medic_reliability": "HIGH", "medic_smiles": "COc1cc(N)c(Cl)cc1C(=O)NC1CCN(CCCOc2ccc(F)cc2)CC1OC.O", "name": "cisapride", "provided_by": ["infores:medic"], "synonym": ["CISAPRIDE MONOHYDRATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1729", "DrugCentral:660", "GTOPDB:240", "PHAROS:2TM3211NURBQ", "PUBCHEM.COMPOUND:2769", "UNII:UVL329170W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3721", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20090408", "medic_mention_id": "MEDICNE:a8f62185-86b2-5a54-ba9d-45cf9f5060a0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003973"], "medic_reliability": "MEDIUM", "name": "cisatracurium besylate", "provided_by": ["infores:medic"], "synonym": ["Cisatracurium Besylate Bulk &", "Cisatracurium besilate"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:37333", "medic_application_numbers": ["020123|022066"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["V08CA03"], "medic_earliest_approval_date": "19930108", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:24924ac1-181a-5338-9e58-fc1d6729e3f7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002763"], "medic_reliability": "HIGH", "name": "gadodiamide", "provided_by": ["infores:medic"], "synonym": ["GADODIAMIDE", "gadodiamide", "Гадодиамид"], "xref": ["UNII:84F6U3J2R6"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3738", "medic_application_numbers": ["017661|018675|020925|073095|073282|073283|073399|073458|073459|074075|074512|074863|074884|075703"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8be2f2f6-7308-5ca0-80c6-40d685dcd1f0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006875"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCC[C@@H]1CCO[C@](C)(c1ccccc1)c1ccc(Cl)cc1.O=C(O)/C=C/C(=O)O", "name": "clemastine", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; CLEMASTINE FUMARATE; PSEUDOEPHEDRINE HYDROCHLORIDE", "CLEMASTINE FUMARATE", "Clemastine", "Clemustine (as the hydrogen fumerate)1mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1626", "DRUGBANK:DB00283", "DrugCentral:671", "GTOPDB:6063", "PHAROS:5DR36UR12JJS", "PUBCHEM.COMPOUND:26987", "UNII:95QN29S1ID"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3739", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230117", "medic_mention_id": "MEDICNE:b7678242-0a6f-5fff-b39b-821cd1d03a5f", "medic_reliability": "LOW", "name": "clemastine fumarate", "provided_by": ["infores:medic"], "synonym": ["Clomastine Fumarate Injection", "富马酸氯马斯汀注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3743", "medic_application_numbers": ["010355"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fa763eb1-47e9-597a-997d-91aa6bf22e6b", "medic_reliability": "HIGH", "name": "clidinium", "provided_by": ["infores:medic"], "synonym": ["CLIDINIUM BROMIDE", "Clidinium"], "xref": ["CHEMBL.COMPOUND:CHEMBL620", "DRUGBANK:DB00771", "DrugCentral:676", "GTOPDB:351,366", "PHAROS:SYPGQTHJ9LVT", "PUBCHEM.COMPOUND:2784", "UNII:BO76JF850N"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3746", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210425", "medic_mention_id": "MEDICNE:4182ecf6-d1af-5db5-a9a8-5b390c07a3c8", "medic_reliability": "MEDIUM", "medic_smiles": "CCC[C@@H]1C[C@@H](C(=O)N[C@@H]([C@H]2O[C@H](SC)[C@H](O)[C@@H](O)[C@H]2O)[C@H](C)Cl)N(C)C1.Cl", "name": "clindamycin phosphate", "provided_by": ["infores:medic"], "synonym": ["Clindamycin Phosphate Injection", "克林霉素磷酸酯注射液"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:3755", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19910101", "medic_mention_id": "MEDICNE:09c4dcee-a90d-5042-a9d1-c50938d2a772", "medic_reliability": "MEDIUM", "name": "clomipramine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Clomipramine Hcl 10mg/25mg/50mg Tablet", "Clomipramine Hcl 50mg Capsule", "Clomipramine Hcl 75mg SR Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3756", "medic_application_numbers": ["017533|020813|074569|074869|074920|074925|074940|074964|074979|075150|075423|075468|077147|077171|077194|077856|078654|211033"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["N03AE01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8ceaa179-a69a-51e0-9def-8678fb2f5d90", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004450"], "medic_reliability": "HIGH", "medic_smiles": "O=C1CN=C(c2ccccc2Cl)c2cc([N+](=O)[O-])ccc2N1", "name": "clonazepam", "provided_by": ["infores:medic"], "synonym": ["CLONAZEPAM", "Clonazepam", "Clonazepam 0.5mg/1.0mg/2.0mg Tablet", "Clonazepam Injection", "Clonazepam Tablets", "Escitlopram (as oxalate)10mg + Clonazepam-0.5mg tablet (addl. Strength)."], "xref": ["CHEMBL.COMPOUND:CHEMBL452", "DRUGBANK:DB01068", "DrugCentral:703", "GTOPDB:6963", "PHAROS:P1YWX34JTACH", "PUBCHEM.COMPOUND:2802", "UNII:5PE9FDE8GB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3758", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220630", "medic_mention_id": "MEDICNE:dc66d119-aa7e-51dd-bbca-23cf2ab90f0f", "medic_reliability": "MEDIUM", "name": "Clonidine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Clonidine Hydrochloride Extended-Release Tablets", "盐酸可乐定缓释片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37585", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240604", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:6f7c4f15-0f7f-5280-a371-fcd0793be13b", "medic_reliability": "MEDIUM", "name": "sodium dihydrogenphosphate", "provided_by": ["infores:medic"], "synonym": ["Sodium Dihydrogen Phosphate Granules", "磷酸二氢钠磷酸氢二钠颗粒"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3761", "medic_mention_id": "MEDICNE:519eab8d-a30b-5804-a196-f974f7b971d4", "medic_reliability": "EXCLUDED", "name": "clorazepic acid", "provided_by": ["infores:medic"], "synonym": ["Clorazepate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1213252", "DRUGBANK:DB00628", "DrugCentral:711", "PHAROS:FWV3XHLY1QSZ", "PUBCHEM.COMPOUND:2809", "UNII:D51WO0G0L4"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:3764", "medic_application_numbers": ["017613|017619|017717|018052|018181|018182|018183|018230|018713|018813|019069|020289|020389|020525|020526|020574|021143|072640|072641|073249|073306|074165|074580|076387|076763|078338|090219|209815|212281|215641|216569|217628"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AB18", "D01AC01", "G01AF02"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:bda5acdf-15a1-58c7-acb2-d6d8c5af23ae", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000229"], "medic_reliability": "HIGH", "medic_smiles": "Clc1ccccc1C(c1ccccc1)(c1ccccc1)n1ccnc1", "name": "clotrimazole", "provided_by": ["infores:medic"], "synonym": ["CLOTRIMAZOLE", "Clotrimazole", "Clotrimazole + Lactulose", "Clotrimazole 1gm/100gm Cream", "Clotrimazole 1gm/100ml Cream Solution"], "xref": ["CHEMBL.COMPOUND:CHEMBL104", "DRUGBANK:DB00257", "DrugCentral:719", "GTOPDB:2330", "PHAROS:MRC3NXQ97R3Y", "PUBCHEM.COMPOUND:2812", "UNII:G07GZ97H65"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3766", "medic_application_numbers": ["019758|021590|074546|074949|075162|075417|075713|076809|090308|201824|202873|203479|203807|206433|209480|212923"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["N05AH02"], "medic_earliest_approval_date": "19890926", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0c627921-eeca-5f8d-bed2-3b75fd2aa36c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001204"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN(C2=Nc3cc(Cl)ccc3Nc3ccccc32)CC1", "name": "clozapine", "provided_by": ["infores:medic"], "synonym": ["CLOZAPINE", "Clozapine", "Clozapine Orally Disintegrating Tablets", "Clozapine Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL42", "DRUGBANK:DB00363", "DrugCentral:722", "GTOPDB:38", "PHAROS:RKTD5RVPC8UN", "PUBCHEM.COMPOUND:135398737,2818", "UNII:J60AR2IKIC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37684", "medic_mention_id": "MEDICNE:7dfd499f-d70e-5239-89e3-ff3bb2dbaddd", "medic_reliability": "EXCLUDED", "name": "mannose", "provided_by": ["infores:medic"], "synonym": ["Mannose"], "xref": ["DRUGBANK:DB12907"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3770", "medic_application_numbers": ["017376|017377|017560|017598|018242|018374|018452|018598|018615|018812|018852|018854|018946|070000|070002|070006|070007|070022|070028|070030|070032|070034|070037|070048|070063|070064|070065|070066|070203|070204|070215|070216|070223|070627|070628|070890|071017|071299|071300|071556|071815|071816|072289|072383|072398|072399|072408|072417|072768|072769|073199|073303|074650|076817|076899|077612|077785|078060|090624|090828|091348|206607|212231|212699|214330"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:580b964b-14ce-5e85-9c15-2b0b03876cc4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006679"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc(Cc2cnc(N)nc2N)cc(OC)c1OC.Cc1cc(NS(=O)(=O)c2ccc(N)cc2)no1", "name": "co-trimoxazole", "provided_by": ["infores:medic"], "synonym": ["Co-trimoxazole [Sulfamethoxazole + Trimethoprim]", "SULFAMETHOXAZOLE; TRIMETHOPRIM", "Ко-тримоксазол [Сульфаметоксазол+Триметоприм]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37758", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100804", "medic_mention_id": "MEDICNE:b0347eb7-3d29-51ee-a4b3-33e6574e9ea2", "medic_registration_numbers": ["MOH_RUSSIA:Р N003698/01"], "medic_reliability": "MEDIUM", "name": "iodoform", "provided_by": ["infores:medic"], "synonym": ["Iodoform", "triiodomethane", "Йодоформ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3777", "medic_mention_id": "MEDICNE:dc045cb9-6e79-5be0-a475-0110ac9a78fa", "medic_reliability": "EXCLUDED", "name": "Coagulation Factor VIIa", "provided_by": ["infores:medic"], "synonym": ["Coagulation factor viia"], "xref": ["DRUGBANK:DB00036"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3783", "medic_mention_id": "MEDICNE:72c68e36-5a69-55a6-a1b9-2879ed0b0a65", "medic_reliability": "EXCLUDED", "name": "Coagulation Factor Xa", "provided_by": ["infores:medic"], "synonym": ["Coagulation factor x"], "xref": ["DRUGBANK:DB13148"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37845", "medic_mention_id": "MEDICNE:0b6f00dc-65e5-546d-bb38-5b5777c8c56d", "medic_reliability": "EXCLUDED", "name": "growth hormone", "provided_by": ["infores:medic"], "synonym": ["Somatotropin"], "xref": ["DRUGBANK:DB00052"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37878", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960817", "medic_mention_id": "MEDICNE:69ed96ec-0886-5754-95b3-15333a1ce1ff", "medic_reliability": "MEDIUM", "name": "glucosamine sulfate", "provided_by": ["infores:medic"], "synonym": ["Glucosamine Sulfate Capsules", "硫酸氨基葡萄糖胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37922", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01GB12"], "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:3fe27f47-31de-58d0-80cf-ae6bdd7157f2", "medic_reliability": "MEDIUM", "medic_smiles": "NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)CC[C@H]2N)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O", "name": "arbekacin", "provided_by": ["infores:medic"], "synonym": ["Arbekacin bulk & Injection"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:37924", "medic_application_numbers": ["021567|091673|200626|204806|206352|208177|209717|210575|212278|212579"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["J05AE08"], "medic_earliest_approval_date": "20030620", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c2bf2025-0f25-50f2-87c2-8ec6ee9efe8a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000635"], "medic_reliability": "HIGH", "medic_smiles": "COC(=O)N[C@H](C(=O)N[C@@H](Cc1ccccc1)[C@@H](O)CN(Cc1ccc(-c2ccccn2)cc1)NC(=O)[C@@H](NC(=O)OC)C(C)(C)C)C(C)(C)C", "name": "atazanavir", "provided_by": ["infores:medic"], "synonym": ["ATAZANAVIR SULFATE", "ATAZANAVIR SULFATE; COBICISTAT", "Atazanavir", "Atazanavir + Ritonavir", "Atazanavir 300mg capsules (Additional strength)", "atazanavir", "atazanavir sulfate", "atazanavir;cobicistat"], "xref": ["CHEMBL.COMPOUND:CHEMBL1163", "DRUGBANK:DB01072", "PHAROS:RLRCXU4Q7NCC", "PUBCHEM.COMPOUND:148192", "UNII:QZU4H47A3S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:37937", "medic_application_numbers": ["017675"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["C02CC01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3cf68ef6-dc8d-5cd3-a7ba-86d85a4a760e", "medic_reliability": "HIGH", "medic_smiles": "C/N=C(\\NC)NCc1ccccc1", "name": "bethanidine", "provided_by": ["infores:medic"], "synonym": ["BETHANIDINE SULFATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201260", "DrugCentral:359", "PHAROS:AS2LUS517G8J", "PUBCHEM.COMPOUND:2368", "UNII:W8S3YM7AUU"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:37941", "medic_application_numbers": ["020839|076273|076274|076999|077665|078004|078133|090307|090494|090540|090625|090844|091023|091216|201686|202266|202925|202928|203632|203751|204165|204359|205345|206376|213351|215388"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19971117", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:569e85be-0c2c-5e5a-a645-9902d536f063", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000076"], "medic_reliability": "HIGH", "medic_smiles": "COC(=O)[C@H](c1ccccc1Cl)N1CCc2sccc2C1.O=S(=O)(O)O", "name": "clopidogrel", "provided_by": ["infores:medic"], "synonym": ["CLOPIDOGREL BISULFATE", "CLOPIDOGREL SULFATE", "Clopidogrel", "Clopidogrel 300mg Tablet (addl. Strength)", "Clopidogrel and Aspirin Tablets", "clopidogrel", "clopidogrel;acetylsalicylic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL1771", "DRUGBANK:DB00758", "DrugCentral:708", "PHAROS:A2KHQ3U645YJ", "PUBCHEM.COMPOUND:60606", "UNII:A74586SNO7"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:37950", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090324", "medic_mention_id": "MEDICNE:9b2912d3-cbcf-5be2-8dfa-f75d2b44f21c", "medic_registration_numbers": ["MOH_RUSSIA:П N015664/01"], "medic_reliability": "MEDIUM", "name": "hexoprenaline", "provided_by": ["infores:medic"], "synonym": ["Hexoprenaline", "Гексопреналин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3814", "medic_application_numbers": ["017563|020222|077277|077510|215223|216517|217462|217667|220012"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1e971f9a-3ac2-5c37-9e12-40deab85c280", "medic_reliability": "HIGH", "name": "colestipol", "provided_by": ["infores:medic"], "synonym": ["COLESTIPOL HYDROCHLORIDE", "Colestipol"], "xref": ["DRUGBANK:DB00375", "UNII:K50N755924"]}
{"category": ["biolink:Drug"], "id": "CHEBI:3815", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070817", "medic_mention_id": "MEDICNE:379e4b67-1498-5956-ab64-a3d02c948491", "medic_registration_numbers": ["MOH_RUSSIA:Р N000835/01"], "medic_reliability": "MEDIUM", "name": "Collagen", "provided_by": ["infores:medic"], "synonym": ["Collagen", "Коллаген"]}
{"category": ["biolink:Drug"], "id": "CHEBI:38207", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231205", "medic_mention_id": "MEDICNE:afd76cd9-c29c-5c12-bb44-a39390db3d98", "medic_reliability": "MEDIUM", "name": "aminopyridine", "provided_by": ["infores:medic"], "synonym": ["Aminopyridine Extended-Release Tablets", "氨吡啶缓释片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:38545", "medic_application_numbers": ["021366|079145|079161|079166|079167|079168|079169|079170|079171|079172|201619|205587|206381|206434|206465|206513|206603|207062|207296|207375|207408|207453|207616|207626|207653|207752|208647|208850|208898|210667|212059"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["C10AA07"], "medic_earliest_approval_date": "20030812", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7843d9fc-eb84-51eb-92f4-c87f31b1ca34", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000226"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)c1nc(N(C)S(C)(=O)=O)nc(-c2ccc(F)cc2)c1/C=C/[C@@H](O)C[C@@H](O)CC(=O)O", "name": "rosuvastatin", "provided_by": ["infores:medic"], "synonym": ["ROSUVASTATIN CALCIUM", "Rosuvastatin", "Rosuvastatin + Ezetimibe", "Rosuvastatin + Fenofibrate", "Rosuvastatin and Ezetimibe Tablets (I)", "瑞舒伐他汀依折麦布片（I）"], "xref": ["CHEMBL.COMPOUND:CHEMBL1496", "DRUGBANK:DB01098", "DrugCentral:2406", "GTOPDB:2954", "PHAROS:WKJ4M7B51M5V", "PUBCHEM.COMPOUND:446157", "UNII:413KH5ZJ73"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:38561", "medic_application_numbers": ["020261|021192|078407|079011|090595|202458|209397"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19931231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9042f8cc-b223-5ffb-a041-216b41371b06", "medic_registration_numbers": ["MOH_RUSSIA:П N013398/01"], "medic_reliability": "HIGH", "name": "fluvastatin", "provided_by": ["infores:medic"], "synonym": ["FLUVASTATIN SODIUM", "FluvAstatin Tablet (As calcium) 10mg/20mg/40mg (additional strength)", "Fluvastatin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2220442", "DRUGBANK:DB01095", "DrugCentral:1229", "PHAROS:JGSXU7T4NN2K", "PUBCHEM.COMPOUND:5353627", "UNII:4L066368AS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:38803", "medic_application_numbers": ["020091"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08CX01"], "medic_earliest_approval_date": "19930813", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9368375d-0eca-525f-83f4-52a67c190200", "medic_reliability": "HIGH", "medic_smiles": "FC(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)Br", "name": "perflubron", "provided_by": ["infores:medic"], "synonym": ["PERFLUBRON"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3892", "medic_application_numbers": ["007504|008317|008372|008975|010831|088772"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76d131d4-0fd5-5cc1-90a7-ce8e7a84a6ad", "medic_reliability": "HIGH", "name": "corticotropin", "provided_by": ["infores:medic"], "synonym": ["CORTICOTROPIN", "Corticotropin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201610", "DRUGBANK:DB01285", "DrugCentral:4931", "PHAROS:BW3VQFAQSFSF", "UNII:K0U68Q2TXA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:38940", "medic_application_numbers": ["021938|201275|213803|213914|214824|215843|218012|218024|218615"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20060126", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9a2822da-65e3-5825-9267-1514f8474735", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004193"], "medic_reliability": "HIGH", "medic_smiles": "CCN(CC)CCNC(=O)c1c(C)[nH]c(/C=C2\\C(=O)Nc3ccc(F)cc32)c1C.O=C(O)C[C@H](O)C(=O)O", "name": "sunitinib", "provided_by": ["infores:medic"], "synonym": ["SUNITINIB MALATE", "Sunitinib", "Sunitinib Maleate Capsules 12.5mg/25mg/50mg", "sunitinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL535,CHEMBL1567", "DRUGBANK:DB01268", "DrugCentral:2544", "GTOPDB:5713", "PHAROS:T16444CNC2AA", "PUBCHEM.COMPOUND:5329102,6456015", "UNII:V99T50803M"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:3901", "medic_application_numbers": ["016750|022028|090574|202147"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:355cddbe-b234-5757-9c85-f59213207e68", "medic_reliability": "HIGH", "name": "cosyntropin", "provided_by": ["infores:medic"], "synonym": ["COSYNTROPIN", "Tetracosactide BP bulk and Tetracosactide injection BP 250 mcg/ml"], "xref": ["UNII:72YY86EA29"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:39098", "medic_stub": true, "name": "pyrethrins", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:39112", "medic_application_numbers": ["203341|209543|217729"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EA04"], "medic_earliest_approval_date": "20120904", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ab9aabfb-2d6a-5b44-a6bf-df61fd49dc83", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002711"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc(Nc2c(C#N)cnc3cc(OCCCN4CCN(C)CC4)c(OC)cc23)c(Cl)cc1Cl.O", "name": "bosutinib", "provided_by": ["infores:medic"], "synonym": ["BOSUTINIB HYDRATE", "BOSUTINIB MONOHYDRATE", "Bosutinib", "Bosutinib bulk and Bosutinib tablets 100mg,", "Bozutinib", "bosutinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL288441", "DRUGBANK:DB06616", "DrugCentral:4359", "GTOPDB:5710", "PHAROS:ZLQR6LZVF9RB", "PUBCHEM.COMPOUND:5328940", "UNII:5018V4AEZ0"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:39123", "medic_stub": true, "name": "calcium cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:39127", "medic_stub": true, "name": "magnesium cation", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4055", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N07BA04"], "medic_earliest_approval_date": "20090722", "medic_mention_id": "MEDICNE:a0c9fbe6-9b1a-5eeb-833e-4eaa0844168c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006498"], "medic_reliability": "MEDIUM", "medic_smiles": "O=c1cccc2n1C[C@@H]1CNC[C@H]2C1", "name": "cytisine", "provided_by": ["infores:medic"], "synonym": ["Cytisine", "Цитизин"], "xref": ["CHEMBL.COMPOUND:CHEMBL497939", "DrugCentral:5217", "PHAROS:1Y6R8ZTNMMC7", "PUBCHEM.COMPOUND:10235", "UNII:53S5U404NU"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:41462", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:fbd8190a-5eda-5f6c-8d76-3f6279b4f4f1", "medic_reliability": "HIGH", "name": "CARBENOXOLONE", "provided_by": ["infores:medic"], "synonym": ["Carbenoxolone Sodium"], "xref": ["CHEMBL.COMPOUND:CHEMBL499915", "DrugCentral:493", "PHAROS:DQUDV3PC1YW6", "PUBCHEM.COMPOUND:636403", "UNII:MM6384NG73"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:41609", "medic_stub": true, "name": "carbonate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:41688", "medic_application_numbers": ["083513|085017"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9259b9c1-9a44-59a0-adf5-6a1fbede3fcf", "medic_reliability": "HIGH", "name": "crystal violet", "provided_by": ["infores:medic"], "synonym": ["GENTIAN VIOLET", "Gentian violet"], "xref": ["DRUGBANK:DBSALT000604", "UNII:3GVJ31T6YY"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:41872", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D08AH01", "G01AC05", "R02AA02"], "medic_earliest_approval_date": "19610101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:754ebd0f-10b4-570b-bfb0-8b75e27b4c89", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc(N)c2ccccc2[n+]1CCCCCCCCCC[n+]1c(C)cc(N)c2ccccc21", "name": "dequalinium", "provided_by": ["infores:medic"], "synonym": ["Dequalinium", "Dequalinium Acetate"], "xref": ["CHEMBL.COMPOUND:CHEMBL121663", "DRUGBANK:DB04209", "DrugCentral:4376", "GTOPDB:2313", "PHAROS:FGXPF95WVFV4", "PUBCHEM.COMPOUND:2993,10649", "UNII:E7QC7V26B8"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:41922", "medic_application_numbers": ["004039|004040|004041|004056|083002|083003|083004|083005|083006|083007"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19700625", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:04e6009b-8136-51ec-ba16-9d0da19ae02b", "medic_registration_numbers": ["MOH_RUSSIA:70/421/62"], "medic_reliability": "HIGH", "name": "diethylstilbestrol", "provided_by": ["infores:medic"], "synonym": ["DIETHYLSTILBESTROL", "DIETHYLSTILBESTROL DIPHOSPHATE", "Diethylstilbestrol"], "xref": ["CHEMBL.COMPOUND:CHEMBL411", "DrugCentral:875", "GTOPDB:2801", "PHAROS:G6MP2G77G9WR", "PUBCHEM.COMPOUND:448537", "UNII:731DCA35BT"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4463", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220628", "medic_mention_id": "MEDICNE:94772d88-f2b5-55f5-bd31-04ee0c82d071", "medic_reliability": "MEDIUM", "name": "Dexamethasone acetate", "provided_by": ["infores:medic"], "synonym": ["Dexamethasone Acetate Tablets", "醋酸地塞米松片"], "xref": ["CHEMBL.COMPOUND:CHEMBL1651", "DrugCentral:826", "PHAROS:7X2826AJXX3Z", "PUBCHEM.COMPOUND:14442", "UNII:K7V8P532WP"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4508", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:8e4c6537-34c8-5a23-a03a-eeccf3cc9d22", "medic_reliability": "MEDIUM", "name": "diclofenac potassium", "provided_by": ["infores:medic"], "synonym": ["Diclofenac Potassium 50mg + Serratiopeptidase (as enteric coated pellets) 15mg capsules (Additional Strength)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45081", "medic_mention_id": "MEDICNE:b5bf5077-5204-520e-a6f4-1198e84b535e", "medic_reliability": "EXCLUDED", "name": "pentamidine", "provided_by": ["infores:medic"], "synonym": ["Pentamidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL55", "DRUGBANK:DB00738", "DrugCentral:2090", "PHAROS:ZWTYU7KAJWPZ", "PUBCHEM.COMPOUND:4735", "UNII:673LC5J4LQ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4509", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:1c5b483f-22bb-5e84-99da-1ce7cadf21fd", "medic_reliability": "MEDIUM", "name": "diclofenac sodium", "provided_by": ["infores:medic"], "synonym": ["Diclofenac Sodium (75mg/ml) Injection (addl. Strength).", "Diclofenac Sodium 100mg (Adults) & 12.5mg (Children) Suppository", "Diclofenac Sodium 100mg (SR Pellets) + Rabeprazole Sodium 20mg (E.C Pellets) Capsules", "Diclofenac Sodium 1gm Gel", "Diclofenac Sodium 25mg/ml Injection (For Veterinary)", "Diclofenac Sodium 50mg + Codeine Phosphate 50mg tablets", "Diclofenac Sodium 50mg + Paracetamol 500mg tablets", "Diclofenac Sodium 50mg Dispersible Tablet", "Diclofenac Sodium 75mg/100mg Sustained Release Tablet", "Diclofenac Sodium Capsules", "Diclofenac Sodium Injection 75mg/2ml", "Diclofenac sodium (SR) 100mg + Eperisone Hydrochloride (SR) 150mg Capsules", "Sodium Diclofenac Enteric-Coated Tablets", "Sodium Diclofenac Extended-Release Tablets", "双醋瑞因胶囊"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4511", "medic_application_numbers": ["050011|050092|050337|060254|061454|061455|062238|062286|216845"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d6c0a214-76a4-5909-9993-d82235f26ea4", "medic_reliability": "HIGH", "medic_smiles": "Cc1onc(-c2c(Cl)cccc2Cl)c1C(=O)N[C@@H]1C(=O)N2[C@@H]1SC(C)(C)[C@@H]2C(=O)[O-].[Na+]", "name": "dicloxacillin", "provided_by": ["infores:medic"], "synonym": ["DICLOXACILLIN SODIUM", "Dicloxacillin"], "xref": ["DRUGBANK:DB00485", "UNII:COF19H7WBK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4513", "medic_application_numbers": ["005509|005545"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f0c1a898-f7b1-52c2-b440-7763293b332b", "medic_reliability": "HIGH", "name": "dicoumarol", "provided_by": ["infores:medic"], "synonym": ["DICUMAROL"], "xref": ["CHEMBL.COMPOUND:CHEMBL1466", "DrugCentral:867", "PHAROS:YYRJTZJKP6JC", "PUBCHEM.COMPOUND:54676038", "UNII:7QID3E7BG7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4514", "medic_application_numbers": ["007409|007961|008370|040161|040169|040204|040230|040317|040319|040465|080614|083179|084285|084361|084479|084505|084600|085082|085223|088585|089361|206468|207076|207084|208353|210257|210788|210979|212058|212286|214332|214333|214721|216639|216736|216760|216782|217054|217531|217566|217916|218018|218310|218952|219242"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:657d89af-951b-5ccc-8042-9758f45f8529", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004506)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "dicyclomine", "provided_by": ["infores:medic"], "synonym": ["DICYCLOMINE HYDROCHLORIDE", "Dicyclomine", "Dicycloverine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1123", "DRUGBANK:DB00804", "DrugCentral:868", "GTOPDB:355", "PHAROS:MT85ZCAMTZY5", "PUBCHEM.COMPOUND:3042", "UNII:4KV4X8IF6V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4518", "medic_application_numbers": ["006110|083517|083518|084436"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:87a89c3f-b6e0-5330-8de7-c497e25315d8", "medic_reliability": "HIGH", "name": "dienestrol", "provided_by": ["infores:medic"], "synonym": ["DIENESTROL"], "xref": ["CHEMBL.COMPOUND:CHEMBL1018", "DrugCentral:870", "PHAROS:G6CAXV47U2YV", "PUBCHEM.COMPOUND:667476", "UNII:RRW32X4U1F"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4527", "medic_application_numbers": ["006459"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0f0d7f7b-13da-5157-b45a-71c1eeb77539", "medic_reliability": "HIGH", "name": "diethylcarbamazine", "provided_by": ["infores:medic"], "synonym": ["DIETHYLCARBAMAZINE CITRATE", "Diethylcarbamazine"], "xref": ["DRUGBANK:DB00711"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4532", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19720526", "medic_mention_id": "MEDICNE:dc7c955f-0863-5777-86bb-8ba88feec6dd", "medic_registration_numbers": ["MOH_RUSSIA:72/425/16"], "medic_reliability": "LOW", "name": "diethylstilbestrol diphosphate", "provided_by": ["infores:medic"], "synonym": ["Phosphetrol", "Фосфэстрол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45327", "medic_application_numbers": ["050486|050523"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J05AB03", "S01AD06"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0b1cfcc2-3bd6-514d-9df4-d45fa891985a", "medic_reliability": "HIGH", "medic_smiles": "Nc1ncnc2c1ncn2[C@@H]1O[C@H](CO)[C@@H](O)[C@@H]1O", "name": "adenine arabinoside", "provided_by": ["infores:medic"], "synonym": ["VIDARABINE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:45357", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20180323", "medic_mention_id": "MEDICNE:0e53ce6e-fbe9-5a5c-9404-4fa7aaade32b", "medic_reliability": "HIGH", "name": "N-PROPARGYL-1(R)-AMINONDAN", "provided_by": ["infores:medic"], "synonym": ["RASAGILINE MESILATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:45373", "medic_application_numbers": ["006530|088718"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["D06BA05", "J01EB06"], "medic_earliest_approval_date": "19640430", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4e669039-489d-521d-965a-56a26f7ddc0b", "medic_registration_numbers": ["MOH_RUSSIA:64/228/233"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ccc(S(N)(=O)=O)cc1", "name": "sulfanilamide", "provided_by": ["infores:medic"], "synonym": ["SULFANILAMIDE", "Sulfanilamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL21", "DRUGBANK:DB00259", "PHAROS:YJUV95M8L1KL", "PUBCHEM.COMPOUND:129828936"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:45479", "medic_stub": true, "name": "13-cis-retinol", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:45716", "medic_application_numbers": ["021991"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["L01XH01"], "medic_earliest_approval_date": "20061006", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:884a2172-1f59-5538-bd9a-fd2f599bdf79", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001458"], "medic_reliability": "HIGH", "medic_smiles": "O=C(CCCCCCC(=O)Nc1ccccc1)NO", "name": "vorinostat", "provided_by": ["infores:medic"], "synonym": ["VORINOSTAT", "Vorinostat"], "xref": ["CHEMBL.COMPOUND:CHEMBL98", "DRUGBANK:DB02546", "DrugCentral:4124", "GTOPDB:6852", "PHAROS:3A6WF2F4D5BG", "PUBCHEM.COMPOUND:5311", "UNII:58IFB293JI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45735", "medic_application_numbers": ["050332|050336"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01FA08"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:dbc06941-f681-5eab-8916-17d479639e93", "medic_reliability": "HIGH", "medic_smiles": "CO[C@H]1C[C@H](O[C@H]2[C@H](C)[C@@H](O[C@@H]3O[C@H](C)C[C@H](N(C)C)[C@H]3OC(C)=O)[C@@H](C)C[C@@]3(CO3)C(=O)[C@H](C)[C@@H](OC(C)=O)[C@@H](C)[C@@H](C)OC(=O)[C@@H]2C)O[C@@H](C)[C@@H]1OC(C)=O", "name": "troleandomycin", "provided_by": ["infores:medic"], "synonym": ["TROLEANDOMYCIN"], "xref": ["GTOPDB:10209", "PHAROS:6DJ7K338QR4A", "PUBCHEM.COMPOUND:17675"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:45783", "medic_application_numbers": ["021335|021588|078340|079179|204285|204644|205990|206547|207495|207586|207818|208302|208429|210658|212135|212193|212773|212975|219097"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20010510", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8bc46413-79e5-59d7-8a3a-90792ce5f5fb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001694"], "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)O.Cc1ccc(NC(=O)c2ccc(CN3CCN(C)CC3)cc2)cc1Nc1nccc(-c2cccnc2)n1", "name": "imatinib", "provided_by": ["infores:medic"], "synonym": ["IMATINIB MESYLATE", "Imatinib", "imatinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL941", "DRUGBANK:DB00619", "DrugCentral:1423", "GTOPDB:5687", "PHAROS:VLU17BQBSGWU", "PUBCHEM.COMPOUND:5291", "UNII:BKJ8M8G5HI"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:45863", "medic_application_numbers": ["020262|021660|075184|075190|075278|075297|075436|076131|076233|077413|077574|078167|090130|091540|205720|207326|209657|211875|212700|213434|216338|216355|216874|217877"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01CD01"], "medic_earliest_approval_date": "19921229", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a705cb6d-c662-5c7c-8a51-8e79f8dad0f2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000464"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O[C@H]1C(=O)[C@@]2(C)[C@H]([C@H](OC(=O)c3ccccc3)[C@]3(O)C[C@H](OC(=O)[C@H](O)[C@@H](NC(=O)c4ccccc4)c4ccccc4)C(C)=C1C3(C)C)[C@]1(OC(C)=O)CO[C@@H]1C[C@@H]2O", "name": "paclitaxel", "provided_by": ["infores:medic"], "synonym": ["PACLITAXEL", "PACLITAXEL + ALBUMIN", "Paclitaxel", "Paclitaxel (protein bound particle) for injectable suspension (paclitaxel (100mg)", "Paclitaxel Injection 30mg/100 mg/300 mg (additional Indication)", "Paclitaxel for Injection (Albumin-Bound)", "paclitaxel"], "xref": ["CHEMBL.COMPOUND:CHEMBL428647", "DRUGBANK:DB01229", "DrugCentral:2044", "GTOPDB:2770", "PHAROS:F6F6DK8FGGAH", "PUBCHEM.COMPOUND:36314", "UNII:P88XT4IS4D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45906", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:027908aa-ddc7-501c-afe3-ec7c429c279b", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(C(=O)Nc2ccc(S(=O)(=O)O)c3cc(S(=O)(=O)O)cc(S(=O)(=O)O)c23)cc1NC(=O)c1cccc(NC(=O)Nc2cccc(C(=O)Nc3cc(C(=O)Nc4ccc(S(=O)(=O)O)c5cc(S(=O)(=O)O)cc(S(=O)(=O)O)c45)ccc3C)c2)c1", "name": "suramin", "provided_by": ["infores:medic"], "synonym": ["Suramin", "Suramin Injection (For Veterinary)"], "xref": ["CHEMBL.COMPOUND:CHEMBL3040216,CHEMBL2397737", "DRUGBANK:DB04786", "PHAROS:8NGNUHJHVGPH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4591", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081006", "medic_mention_id": "MEDICNE:32d24f77-67ad-5911-942d-c5e97e89cc6f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003334)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "dihydrotachysterol", "provided_by": ["infores:medic"], "synonym": ["Dihydrotachysterol", "Дигидротахистерол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:45924", "medic_application_numbers": ["074374|074973"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["J01EA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f99eddd7-a4a8-5de7-850b-7447ab76b7e4", "medic_registration_numbers": ["MOH_RUSSIA:83/1348/4"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc(Cc2cnc(N)nc2N)cc(OC)c1OC.COc1cc(Cc2cnc(N)nc2N)cc(OC)c1OC.O=S(=O)(O)O", "name": "trimethoprim", "provided_by": ["infores:medic"], "synonym": ["TRIMETHOPRIM", "TRIMETHOPRIM HYDROCHLORIDE", "Trimethoprim"], "xref": ["CHEMBL.COMPOUND:CHEMBL22", "DRUGBANK:DB00440", "PHAROS:1UYSPXCG15AL", "PUBCHEM.COMPOUND:5578", "UNII:AN164J8Y0X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:45951", "medic_application_numbers": ["011552|040153|040209|085785|085786|085787|085788|085789|085973|085975|085976|087328|087612|087613|087614|088143|088710|088967|088968|088969|088970"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["N05AB06"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7bea8d66-bdb9-5a9e-8d1d-9a74c70bddc6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012668)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN(CCCN2c3ccccc3Sc3ccc(C(F)(F)F)cc32)CC1", "name": "trifluoperazine", "provided_by": ["infores:medic"], "synonym": ["TRIFLUOPERAZINE HYDROCHLORIDE", "Trifluoperazine"], "xref": ["CHEMBL.COMPOUND:CHEMBL422", "DRUGBANK:DB00831", "DrugCentral:2740", "GTOPDB:214", "PHAROS:11XN832CV5S1", "PUBCHEM.COMPOUND:5566", "UNII:214IZI85K3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45979", "medic_application_numbers": ["016096|016097"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D01AC06", "P02CA02"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:891a4de5-5fc7-5d11-bc28-a49af9964b98", "medic_reliability": "HIGH", "medic_smiles": "c1ccc2[nH]c(-c3cscn3)nc2c1", "name": "thiabendazole", "provided_by": ["infores:medic"], "synonym": ["THIABENDAZOLE", "Thiabendazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL625", "PHAROS:MCV61RRRWNWZ", "PUBCHEM.COMPOUND:5430"]}
{"category": ["biolink:Drug"], "id": "CHEBI:45980", "medic_application_numbers": ["020070"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19930909", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:dd041b57-5b38-5331-8075-f67279a6f1ea", "medic_reliability": "HIGH", "name": "tacrine", "provided_by": ["infores:medic"], "synonym": ["TACRINE HYDROCHLORIDE", "Tacrine Hcl 10mg/20mg/30mg/40mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL95,CHEMBL1677,CHEMBL1337960", "DrugCentral:2551", "GTOPDB:6687", "PHAROS:5L7ZPW8RPXA9", "PUBCHEM.COMPOUND:1935,135504745,6420002", "UNII:4VX7YNB537"]}
{"category": ["biolink:Drug"], "id": "CHEBI:46035", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20110223", "medic_mention_id": "MEDICNE:c957edf0-bc72-53ca-81fa-1dba301708d0", "medic_reliability": "HIGH", "name": "(S)-10-[(DIMETHYLAMINO)METHYL]-4-ETHYL-4,9-DIHYDROXY-1H-PYRANO[3',4':6,7]INOLIZINO[1,2-B]-QUINOLINE-3,14(4H,12H)-DIONE", "provided_by": ["infores:medic"], "synonym": ["NOGITECAN HYDROCHLORIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4604", "medic_application_numbers": ["040519|080615|080715|080841|083531|084316|084767|085166|085985"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1e73ee45-9208-5a60-ae88-fae964169a70", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002390"], "medic_reliability": "HIGH", "name": "dimenhydrinate", "provided_by": ["infores:medic"], "synonym": ["DIMENHYDRINATE", "Dimenhydrinate", "Dimenhydrinate + Cinnarizine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200406", "DRUGBANK:DB00985", "DrugCentral:901", "PHAROS:dimenhydrinate", "PUBCHEM.COMPOUND:10660"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:46081", "medic_application_numbers": ["019949|019950|020090|074681|076042|076077|076086|076087|076145|076213|076246|076303|076304|076332|076351|076386|076424|076432|076507|076617|076653|076658|076665|076736|076766|076837|076888|076889|076918|076957|077253|077523|077731|077909|077947|077988|078107|078423|078698|078764|079104|079150|208963|209146|215738|218692"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["D01AC15", "J02AC01"], "medic_earliest_approval_date": "19900129", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3f156d39-67f0-5dd2-9354-39c49a116e47", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000206"], "medic_reliability": "HIGH", "medic_smiles": "OC(Cn1cncn1)(Cn1cncn1)c1ccc(F)cc1F", "name": "fluconazole", "provided_by": ["infores:medic"], "synonym": ["FLUCONAZOLE", "Flu conazole tablet 300mg (Additional strength)", "Fluconazole", "Fluconazole + Azithromycin + Secnidazole", "Fluconazole 50mg/5ml Oral Suspension", "Fluconazole Tablets", "Fluconazole and Sodium Chloride Injection", "氟康唑氯化钠注射液"], "xref": ["DRUGBANK:DB00196", "UNII:8VZV102JFY"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:46195", "medic_application_numbers": ["016401|017756|017785|018060|018337|019872|022450|070607|070608|071010|071011|072218|072237|072344|073106|073107|073108|075077|076200|078569|090205|202605|204052|204767|204957|205746|206610|206968|207035|207229|210969|211544|213255|214331|215403|215486|216467|216617|219096|219215"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["N02BE01", "N02BE51", "N02BE71"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:4002a288-41da-5c78-a9a5-82654c2d788c", "medic_registration_numbers": ["MOH_RUSSIA:64/228/194"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1ccc(O)cc1", "name": "paracetamol", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN", "Acetaminophen", "Acetaminophen Granules", "Acetaminophen Tablets", "Acetaminophen and Dihydrocodeine Tablets", "Acetaminophen and Hydrocodone Tablets", "Acetaminophen and Ibuprofen Tablets", "Acetaminophen and Tramadol Tablets", "Dicycloverine + Paracetamol", "Paracetamol", "Paracetamol + Chlorphenamine", "Paracetamol + Pheniramine + Phenylephrine", "Paracetamol + Phenylephrine", "Paracetamol + Phenylephrine + Chlorphenamine", "Paracetamol + Phenylephrine + Pheniramine", "Paracetamol + Phenylephrine Hydrochloride (Each 6gm Sachet contains: 500mg + 10mg) Sachet", "Paracetamol 325mg + Tramadol Hydrochloride 37.5 mg Tablets", "Paracetamol 650mg SR Tablet", "Paracetamol IP 325mg + Pamabrom USP 25mg Tablets", "Paracetamol solution for infusion 10mg/ml", "Paracetamol tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL112", "DRUGBANK:DB00316", "DrugCentral:52", "GTOPDB:5239", "PHAROS:W4WH4FK6P232", "PUBCHEM.COMPOUND:1983", "UNII:362O9ITL9D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:46245", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071107", "medic_mention_id": "MEDICNE:d9bbbe18-05bd-5cab-9035-2bf7e377dc7e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000019"], "medic_reliability": "HIGH", "name": "coenzyme Q10", "provided_by": ["infores:medic"], "synonym": ["Coenzyme Q10", "Coenzyme q10", "Ubidecarenone"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:46295", "medic_application_numbers": ["021400|091347|200179|204632|205988|208324|208960|209057|210738|214031"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20030306", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf636238-aae9-5c6f-8440-f1ce5dbaaf7f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001328"], "medic_reliability": "HIGH", "medic_smiles": "CCCc1nc(C)c2c(O)nc(-c3cc(S(=O)(=O)N4CCN(CC)CC4)ccc3OCC)nn12.Cl", "name": "vardenafil", "provided_by": ["infores:medic"], "synonym": ["VARDENAFIL HYDROCHLORIDE", "Vardenafil", "vardenafil"], "xref": ["CHEMBL.COMPOUND:CHEMBL168949", "DRUGBANK:DB00862", "PHAROS:Y19JW78AYT9G", "PUBCHEM.COMPOUND:135544141", "UNII:UCE6F4125H"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4631", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C05CA03", "C05CA53"], "medic_earliest_approval_date": "20060825", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:7ee80ab4-6e8e-5ac4-b0a9-32d9a1c49edc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002517"], "medic_reliability": "MEDIUM", "medic_smiles": "COc1ccc(-c2cc(=O)c3c(O)cc(O[C@@H]4O[C@H](CO[C@@H]5O[C@@H](C)[C@H](O)[C@@H](O)[C@H]5O)[C@@H](O)[C@H](O)[C@H]4O)cc3o2)cc1O", "name": "diosmin", "provided_by": ["infores:medic"], "synonym": ["Diosmin", "Diosmin + Hesperidin", "Диосмин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:46345", "medic_application_numbers": ["012209|016765|016831|016988|017959|020985|022259|040023|040278|040279|040291|040333|040334|040379|040743|040772|040798|076526|077524|081222|081225|087791|087792|088766|088767|088929|089152|089428|089434|089508|089519|090368|091299|202668|202669|203122|203608|203609|209219|209271|210123|210124|214845|215612|215699|216494|216942|217295|217676|220201"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["L01BC02", "L01BC52"], "medic_earliest_approval_date": "19610101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:570a1fc9-023d-57f3-9b98-d13a3285cb91", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001443"], "medic_reliability": "HIGH", "medic_smiles": "O=c1[nH]cc(F)c(=O)[nH]1", "name": "5-fluorouracil", "provided_by": ["infores:medic"], "synonym": ["5-Fluorouracil 250mg/5ml Oral Solution", "5-Fluorourail 250mg Capsule", "FLUOROURACIL", "Fluorouracil"], "xref": ["CHEMBL.COMPOUND:CHEMBL185", "DRUGBANK:DB00544", "DrugCentral:26", "PHAROS:9H3BPYUFMWX4", "PUBCHEM.COMPOUND:3385", "UNII:U3P01618RT"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:4636", "medic_application_numbers": ["021393|090397|200888|210676"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:936e0d28-0c8a-59e9-bf38-869a80f68532", "medic_registration_numbers": ["MOH_RUSSIA:64/228/67"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)CCOC(c1ccccc1)c1ccccc1.O=C(O)CC(O)(CC(=O)O)C(=O)O", "name": "diphenhydramine", "provided_by": ["infores:medic"], "synonym": ["DIPHENHYDRAMINE CITRATE; IBUPROFEN", "DIPHENHYDRAMINE HYDROCHLORIDE", "DIPHENHYDRAMINE HYDROCHLORIDE; IBUPROFEN", "DIPHENHYDRAMINE HYDROCHLORIDE; NAPROXEN SODIUM", "DIPHENHYDRAMINE HYDROCHLORIDE; PSEUDOEPHEDRINE HYDROCHLORIDE", "Diphenhydramine", "Diphenhydramine (as methyl sulpho methylate / methyl sulphate) 60mg Tablet & 480mg/100ml Syrup", "Diphenhydramine + Calcium Gluconate + Paracetamol + Rutoside + [Ascorbic Acid]", "Diphenhydramine + Ibuprofen", "Diphenhydramine + Melatonin", "Diphenhydramine + Naproxen", "Diphenhydramine + Paracetamol", "Interferon alfa-2b + Diphenhydramine", "Paracetamol + Phenylephrine and Diphenhydramine + Paracetamol", "diphenhydramine hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL657,CHEMBL1200406", "DRUGBANK:DB01075", "DrugCentral:916", "GTOPDB:1224", "PHAROS:LYU23YRCSQTR", "PUBCHEM.COMPOUND:3100,10660", "UNII:8GTS82S83M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4637", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200107", "medic_mention_id": "MEDICNE:61439be3-8140-5657-ada8-fe6fb75a978a", "medic_reliability": "MEDIUM", "name": "diphenhydramine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Diphenhydramine Hydrochloride Tablets", "盐酸苯海拉明片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4638", "medic_application_numbers": ["016033"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:21b0d048-302f-5b46-99f8-812cc9e18a96", "medic_reliability": "HIGH", "name": "diphenidol", "provided_by": ["infores:medic"], "synonym": ["DIPHENIDOL HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL936", "DrugCentral:313", "PHAROS:SXV3S71WKXTZ", "PUBCHEM.COMPOUND:3055", "UNII:NQO8R319LY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4639", "medic_atc_codes": ["A07DA01"], "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c48d7473-6e43-50c2-bc3a-c19a7de91372", "medic_reliability": "EXCLUDED", "medic_smiles": "CCOC(=O)C1(c2ccccc2)CCN(CCC(C#N)(c2ccccc2)c2ccccc2)CC1", "name": "diphenoxylate", "provided_by": ["infores:medic"], "synonym": ["Diphenoxylate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201294", "DRUGBANK:DB01081", "DrugCentral:918", "PHAROS:V5974RZHJKSS", "PUBCHEM.COMPOUND:13505", "UNII:73312P173G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4646", "medic_application_numbers": ["018239|073636|074188|074382"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["S01EA02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ed71e22a-fb47-55f0-bdcb-025b34a93e52", "medic_reliability": "HIGH", "medic_smiles": "CNCC(O)c1ccc(OC(=O)C(C)(C)C)c(OC(=O)C(C)(C)C)c1", "name": "dipivefrin", "provided_by": ["infores:medic"], "synonym": ["DIPIVEFRIN HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201262", "DrugCentral:922", "PHAROS:LPZNKD6TMA9G", "PUBCHEM.COMPOUND:3105", "UNII:8Q1PVL543G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4647", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19960516", "medic_mention_id": "MEDICNE:40e213ca-a3bd-5694-a220-113501699e16", "medic_reliability": "MEDIUM", "medic_smiles": "CNCC(O)c1ccc(OC(=O)C(C)(C)C)c(OC(=O)C(C)(C)C)c1.Cl", "name": "dipivefrin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dipivefrin Hcl USP 0.1% Ophthalmic Solution"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:46787", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090317", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:30526342-83ff-5099-8c0c-edaadcbc6033", "medic_registration_numbers": ["MOH_RUSSIA:Р N002626/01"], "medic_reliability": "MEDIUM", "name": "solvent", "provided_by": ["infores:medic"], "synonym": ["Solvents", "Сольвенций"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4682", "medic_application_numbers": ["020623|020624"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970911", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5cb07d87-4b24-5929-86b4-b3f02be02253", "medic_reliability": "HIGH", "name": "dolasetron", "provided_by": ["infores:medic"], "synonym": ["DOLASETRON MESYLATE", "Dolasetron"], "xref": ["CHEMBL.COMPOUND:CHEMBL2368925", "DRUGBANK:DB00757", "DrugCentral:3931", "PHAROS:UHCQQX86RQ4A", "UNII:82WI2L7Q6E"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:46936", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090127", "medic_mention_id": "MEDICNE:4c1324ef-eb2a-57ac-948f-7e4dc953fff1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004248"], "medic_reliability": "MEDIUM", "name": "nonivamide", "provided_by": ["infores:medic"], "synonym": ["Nikoboxil + Nonivamide", "Никобоксил+Нонивамид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4696", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20050527", "medic_mention_id": "MEDICNE:0ea47e60-3b43-5d8d-a5d4-3622d5b3b77e", "medic_reliability": "MEDIUM", "name": "donepezil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Donepezil Hydrochloride Orally Disintegrating Tablets", "Donepezil Hydrochloride Orodispersible Tablet 5mg/10mg", "Donepezil Hydrochloride Tablets", "盐酸多奈哌齐片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4698", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:4bceabf6-eb0c-5ddc-863c-c3d19f9886a8", "medic_reliability": "MEDIUM", "name": "Dopamine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dopamine Hydrochloride 200mg/5ml Injection", "Dopamine Hydrochloride Injection", "盐酸多巴胺注射液"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:4735", "medic_stub": true, "name": "ethylenediaminetetraacetic acid", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4767", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20160714", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:aa458155-0fbe-58fe-906d-444c36f22e19", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003735"], "medic_reliability": "LOW", "name": "Elastin", "provided_by": ["infores:medic"], "synonym": ["Blastin", "Биластин"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4779", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_atc_codes": ["S01GX06"], "medic_earliest_approval_date": "19990127", "medic_mention_id": "MEDICNE:ef657ebd-080d-5c65-b4fb-7c43e0527267", "medic_reliability": "HIGH", "medic_smiles": "CCOCCn1c(N2CCCN(C)CC2)nc2ccccc21", "name": "emedastine", "provided_by": ["infores:medic"], "synonym": ["EMEDASTINE FUMARATE", "emedastine"], "xref": ["CHEMBL.COMPOUND:CHEMBL594", "DrugCentral:999", "PHAROS:GJV1PH2ZN3VD", "PUBCHEM.COMPOUND:3219", "UNII:9J1H7Y9OJV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:478164", "medic_application_numbers": ["050679|050817|050821|065369|065441|090291|091048|202268|203704|209408|212721|214402"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "19960118", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:64b440f0-abc5-5df1-86d5-b34949839912", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000961"], "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)O)=C(C[N+]3(C)CCCC3)CS[C@H]12)c1csc(N)n1.Cl.O.[Cl-]", "name": "cefepime", "provided_by": ["infores:medic"], "synonym": ["CEFEPIME HYDROCHLORIDE", "CEFEPIME HYDROCHLORIDE; ENMETAZOBACTAM", "Cefepime", "Cefepime (250mg) + Tazobactam (31.25mg) Injection (addl. Strength).", "Cefepime Injection (New indication)", "Cefepime injection 500mg/1gm/2gm (For additional indication)", "cefepime;enmetazobactam"], "xref": ["DRUGBANK:DB01413", "UNII:807PW4VQE3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4784", "medic_application_numbers": ["018998|075048|075178|075369|075370|075459|075472|075479|075480|075482|075483|075496|075501|075556|075583|075621|075657|204308|208686|212408|212894|213273|213714|214467|216458|218531"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19851224", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0aa3b252-885e-5a83-a6c3-ec4ed483212b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000696"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1CCC[C@H]1C(=O)O.O=C(O)/C=C\\C(=O)O", "name": "enalapril", "provided_by": ["infores:medic"], "synonym": ["ENALAPRIL MALEATE", "ENALAPRIL MALEATE; FELODIPINE", "ENALAPRIL MALEATE; HYDROCHLOROTHIAZIDE", "Enalapril", "enalapril maleate"], "xref": ["CHEMBL.COMPOUND:CHEMBL578", "DRUGBANK:DB00584", "DrugCentral:1005", "GTOPDB:6322", "PHAROS:K5LQU66Q1KCJ", "PUBCHEM.COMPOUND:40466924,5388962", "UNII:69PN84IO1A", "UNII:Q508Q118JM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4785", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:13199a84-a3c1-5d8c-9f5a-3449d114edf0", "medic_reliability": "MEDIUM", "name": "enalapril maleate", "provided_by": ["infores:medic"], "synonym": ["Enalapril Maleate 2.5mg/5mg/10mg/20mg Tablet", "Enalapril Maleate Bulk", "Enalapril Maleate Tablets", "马来酸依那普利片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:47855", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19970705", "medic_mention_id": "MEDICNE:84535963-e67a-5e66-b2a7-f8fba8775c5b", "medic_reliability": "MEDIUM", "name": "difluoromethane", "provided_by": ["infores:medic"], "synonym": ["Difluoromethane", "地氟烷"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4786", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090625", "medic_mention_id": "MEDICNE:7925d61b-5faf-5839-b1b3-05f7b016235b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000411)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](N[C@@H](CCc1ccccc1)C(=O)O)C(=O)N1CCC[C@H]1C(=O)O", "name": "enalaprilat (anhydrous)", "provided_by": ["infores:medic"], "synonym": ["Enalaprilat"], "xref": ["CHEMBL.COMPOUND:CHEMBL577", "DRUGBANK:DB09477", "DrugCentral:1006", "GTOPDB:6332", "PHAROS:NVHP63K624ML", "PUBCHEM.COMPOUND:5462501", "UNII:Q508Q118JM"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4792", "medic_application_numbers": ["017087|070803|074396"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N01AB04"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1a9702c1-a544-5740-8a24-312286965513", "medic_reliability": "HIGH", "medic_smiles": "FC(F)OC(F)(F)C(F)Cl", "name": "enflurane", "provided_by": ["infores:medic"], "synonym": ["ENFLURANE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1257", "DrugCentral:1009", "PHAROS:GF55ZTJCSZAF", "PUBCHEM.COMPOUND:3226", "UNII:91I69L5AY5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4798", "medic_application_numbers": ["020796|078941|090690|202394|203437|205792|206669|207210|212601"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N04BX02"], "medic_earliest_approval_date": "19980916", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf066094-a007-598e-9a00-85e838eff575", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002356"], "medic_reliability": "HIGH", "medic_smiles": "CCN(CC)C(=O)/C(C#N)=C/c1cc(O)c(O)c([N+](=O)[O-])c1", "name": "entacapone", "provided_by": ["infores:medic"], "synonym": ["ENTACAPONE", "Entacapone", "entacapone"], "xref": ["CHEMBL.COMPOUND:CHEMBL953", "DRUGBANK:DB00494", "DrugCentral:1018", "GTOPDB:6647", "PHAROS:N1ASRUJZVL75", "PUBCHEM.COMPOUND:5281081", "UNII:4975G9NM6T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4806", "medic_mention_id": "MEDICNE:9fc79cbc-f9c3-5a47-9835-2edceb4a3cf8", "medic_reliability": "EXCLUDED", "name": "(-)-epigallocatechin 3-gallate", "provided_by": ["infores:medic"], "synonym": ["Epigallocatechin gallate"], "xref": ["CHEMBL.COMPOUND:CHEMBL297453", "DRUGBANK:DB12116", "GTOPDB:7002", "PHAROS:8G955XN2LS69", "PUBCHEM.COMPOUND:65064"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4814", "medic_application_numbers": ["020738|202012"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19971222", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:62b573e6-9458-5588-9504-a759c9b42d7a", "medic_registration_numbers": ["MOH_RUSSIA:П N012018/01"], "medic_reliability": "HIGH", "name": "eprosartan", "provided_by": ["infores:medic"], "synonym": ["EPROSARTAN MESYLATE", "EPROSARTAN MESYLATE; HYDROCHLOROTHIAZIDE", "Eprosartan"], "xref": ["CHEMBL.COMPOUND:CHEMBL813", "DRUGBANK:DB00876", "DrugCentral:1037", "PHAROS:NBFH33SXA877", "PUBCHEM.COMPOUND:5281037", "UNII:2KH13Z0S0Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4822", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G02AB03"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:c4d3dbba-1bbd-53c2-bfbd-23afd9a123b1", "medic_registration_numbers": ["MOH_RUSSIA:64/228/327"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H](CO)NC(=O)[C@@H]1C=C2c3cccc4[nH]cc(c34)C[C@H]2N(C)C1", "name": "ergometrine", "provided_by": ["infores:medic"], "synonym": ["Ergometrine"], "xref": ["DRUGBANK:DB01253"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48220", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R02AA03"], "medic_earliest_approval_date": "20071017", "medic_mention_id": "MEDICNE:b2e25e4a-dd50-55ef-9b90-4040220cbd08", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010820)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "OCc1ccc(Cl)cc1Cl", "name": "2,4-dichlorobenzyl alcohol", "provided_by": ["infores:medic"], "synonym": ["Amylmetacresol + 2,4-Dichlorobenzyl Alcohol", "Амилметакрезол+2,4-Дихлорбензиловый спирт"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48273", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220812", "medic_mention_id": "MEDICNE:2f8a33c3-5729-5355-9786-e0893f644839", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001129)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "rizatriptan", "provided_by": ["infores:medic"], "synonym": ["Rizatriptan"], "xref": ["CHEMBL.COMPOUND:CHEMBL905", "DRUGBANK:DB00953", "DrugCentral:2393", "GTOPDB:51", "PHAROS:DUKZ85G4J6MR", "PUBCHEM.COMPOUND:5078", "UNII:51086HBW8G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4828", "medic_mention_id": "MEDICNE:576bc0f1-c595-5fd8-b65f-4515c1d38c69", "medic_reliability": "EXCLUDED", "name": "ergothioneine", "provided_by": ["infores:medic"], "synonym": ["Ergothioneine"], "xref": ["DRUGBANK:DB17614"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:48409", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:14226b7b-ab58-58f0-83e4-e6406c6fa0db", "medic_reliability": "MEDIUM", "name": "eprosartan methanesulfonate", "provided_by": ["infores:medic"], "synonym": ["Eprosartan Mesylate 400 mg / 600mg Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48416", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:df988030-3702-50ea-90b4-424368a90e6a", "medic_reliability": "HIGH", "name": "olmesartan", "provided_by": ["infores:medic"], "synonym": ["Olmesartan", "Olmesartan (20/40mg )+ Atorvastatin 5/10/20mg film coated tablets", "Olmesartan + Ramipril (40mg + 5mg) tablets (Additional Strength)"], "xref": ["DRUGBANK:DB00275", "UNII:8W1IQP3U10"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4846", "medic_application_numbers": ["050010|061893|061894|061895|061896|061897|062087|062162|062169|062237|062353|062362|062409"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e1bfd1c3-1f78-52ba-9852-d65ebd24844d", "medic_reliability": "HIGH", "name": "erythromycin estolate", "provided_by": ["infores:medic"], "synonym": ["ERYTHROMYCIN ESTOLATE", "ERYTHROMYCIN ESTOLATE; SULFISOXAZOLE ACETYL"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:4857", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210805", "medic_mention_id": "MEDICNE:879a162c-ebe4-5996-bbf9-ccc7b34303b1", "medic_reliability": "MEDIUM", "name": "esmolol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Esmolol Hydrochloride Injection", "盐酸艾司洛尔注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48574", "medic_application_numbers": ["008319|084339|086151|087091|087260|087674|087756|087774|088218|088863|088994"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["M01AA01", "M02AA01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f2da67af-52f6-5790-81a4-a5c9af31089a", "medic_registration_numbers": ["MOH_RUSSIA:64/228/38"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC1C(=O)N(c2ccccc2)N(c2ccccc2)C1=O", "name": "phenylbutazone", "provided_by": ["infores:medic"], "synonym": ["PHENYLBUTAZONE", "Phenylbutazone", "Phenylbutazone Calcium 200mg & 50mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL101", "DrugCentral:2145", "GTOPDB:7270", "PHAROS:LL6B7PDX34DR", "PUBCHEM.COMPOUND:4781", "UNII:GN5P7K3T8S"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4858", "medic_application_numbers": ["019080|074818|074826|074921"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05CD04"], "medic_earliest_approval_date": "19901226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:57314dac-b984-5819-b512-98a3f2395b42", "medic_reliability": "HIGH", "medic_smiles": "Clc1ccc2c(c1)C(c1ccccc1)=NCc1nncn1-2", "name": "estazolam", "provided_by": ["infores:medic"], "synonym": ["ESTAZOLAM", "Estazolam"], "xref": ["CHEMBL.COMPOUND:CHEMBL285674", "DRUGBANK:DB01215", "DrugCentral:1056", "PHAROS:CNU5MATKV29X", "PUBCHEM.COMPOUND:3261", "UNII:36S3EQV54C"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:48669", "medic_application_numbers": ["019280|019281|022430|091596|091657|201580|201885|202093|202286|202373|202436|202755|203256|203521|205035|205133|205228|206594|206634|206713|207239|208840|209860|212020|212360|212676|216877|217155|218242|218320|218599|218729|218896|219123|219702"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["B02AA02"], "medic_earliest_approval_date": "19861230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4588df60-3fab-5f9d-a5e8-63e821a39e56", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002926"], "medic_reliability": "HIGH", "medic_smiles": "NC[C@H]1CC[C@H](C(=O)O)CC1", "name": "tranexamic acid", "provided_by": ["infores:medic"], "synonym": ["TRANEXAMIC ACID", "Tranexamic Acid Tablets", "Tranexamic Acid and Sodium Chloride Injection", "Tranexamic acid", "氨甲环酸氯化钠注射液"], "xref": ["CHEMBL.COMPOUND:CHEMBL877", "DRUGBANK:DB00302", "DrugCentral:2713", "GTOPDB:6573", "PHAROS:67NK2VCCN96Y", "PUBCHEM.COMPOUND:5526", "UNII:6T84R30KC1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4868", "medic_application_numbers": ["018045"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bd78a93f-879e-5ac4-bc65-f1e3ea49491c", "medic_reliability": "HIGH", "name": "estramustine", "provided_by": ["infores:medic"], "synonym": ["ESTRAMUSTINE PHOSPHATE SODIUM", "Estramustine"], "xref": ["DRUGBANK:DB01196"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:48720", "medic_application_numbers": ["020883|022434|022485|091665|201743|201811|202626|203049|204120|205570|206698|206769|209552|212035|214235|217848"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20000630", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1eb6c838-f46a-5eb7-bbe6-132d84cc963b", "medic_reliability": "HIGH", "name": "argatroban", "provided_by": ["infores:medic"], "synonym": ["ARGATROBAN", "ARGATROBAN HYDRATE", "Argatroban"], "xref": ["CHEMBL.COMPOUND:CHEMBL1166", "DRUGBANK:DB00278", "DrugCentral:239", "GTOPDB:6385", "PHAROS:9T2LQGQ49NMV", "PUBCHEM.COMPOUND:92722", "UNII:OCY3U280Y3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4873", "medic_application_numbers": ["040135|040296|040359|081213|081214|081215|081216|083220|084710|089567|089582"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f432c6c2-b02c-531b-8cd5-d8528184153a", "medic_reliability": "HIGH", "medic_smiles": "C1CNCCN1.C[C@]12CC[C@@H]3c4ccc(OS(=O)(=O)O)cc4CC[C@H]3[C@@H]1CCC2=O", "name": "estropipate", "provided_by": ["infores:medic"], "synonym": ["ESTROPIPATE"], "xref": ["UNII:SVI38UY019"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4875", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L04AB01"], "medic_earliest_approval_date": "19981102", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a7089190-5c63-55f6-9a44-3630c06c2ecf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002122"], "medic_reliability": "HIGH", "name": "etanercept", "provided_by": ["infores:medic"], "synonym": ["ETANERCEPT", "ETANERCEPT [ETANERCEPT BIOSIMILAR 1]", "ETANERCEPT [ETANERCEPT BIOSIMILAR 2]", "Etanercept", "etanercept"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201572", "DRUGBANK:DB00005", "DrugCentral:4978", "PHAROS:etanercept", "UNII:OP401G7OJC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4876", "medic_application_numbers": ["016093|204634|205473|207758|208663"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e28f14c2-09c7-534b-9b17-75e1cd8552e6", "medic_reliability": "HIGH", "medic_smiles": "C=C(CC)C(=O)c1ccc(OCC(=O)[O-])c(Cl)c1Cl.[Na+]", "name": "etacrynic acid", "provided_by": ["infores:medic"], "synonym": ["ETHACRYNATE SODIUM", "ETHACRYNIC ACID", "Ethacrynic Acid USP 25mg/50mg Tablet", "Ethacrynic acid"], "xref": ["DRUGBANK:DB00903", "UNII:M5DP350VZV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4877", "medic_application_numbers": ["016320|075095|076057|078939"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:77500424-883e-5dad-9130-f07781bb2806", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004898"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H](CO)NCCN[C@@H](CC)CO.Cl", "name": "ethambutol", "provided_by": ["infores:medic"], "synonym": ["ETHAMBUTOL HYDROCHLORIDE", "Ethambutol", "Isoniazid + Rifampicin + Pyrazinamide + Ethambutol Hydrochloride", "ethambutol", "Этамбутол"], "xref": ["DRUGBANK:DB00330", "UNII:8G167061QZ"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:487869", "medic_application_numbers": ["050590|050658|062691"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19850401", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b0bba23e-da77-55bd-a3c7-841ef1c4c2f0", "medic_reliability": "HIGH", "name": "clavulanate", "provided_by": ["infores:medic"], "synonym": ["CLAVULANATE POTASSIUM", "CLAVULANATE POTASSIUM; TICARCILLIN DISODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4882", "medic_application_numbers": ["010021|084463"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5ee1dabb-cae0-5551-a1a1-2c2d19a7dc9c", "medic_reliability": "HIGH", "name": "ethchlorvynol", "provided_by": ["infores:medic"], "synonym": ["ETHCHLORVYNOL"], "xref": ["CHEMBL.COMPOUND:CHEMBL591", "DrugCentral:1078", "PHAROS:ZP9APQDXMWGD", "PUBCHEM.COMPOUND:5281077", "UNII:6EIM3851UZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4884", "medic_application_numbers": ["009750"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5252be0c-fe84-5b09-bff9-0cc0fcef680d", "medic_reliability": "HIGH", "medic_smiles": "C#CC1(OC(N)=O)CCCCC1", "name": "ethinamate", "provided_by": ["infores:medic"], "synonym": ["ETHINAMATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48843", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_atc_codes": ["A12CE02", "B05XA20"], "medic_earliest_approval_date": "20190326", "medic_mention_id": "MEDICNE:dce10568-2176-51a8-8716-ae8b3ed14aee", "medic_reliability": "HIGH", "medic_smiles": "O=[Se]([O-])[O-].[Na+].[Na+]", "name": "disodium selenite", "provided_by": ["infores:medic"], "synonym": ["SODIUM SELENITE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48844", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19930515", "medic_mention_id": "MEDICNE:ea4bbdac-3b2a-5b27-beeb-51b2538ce4c8", "medic_reliability": "MEDIUM", "medic_smiles": "CC[C@H]1OC(=O)[C@H](C)[C@@H](O[C@H]2C[C@@](C)(OC)[C@@H](O)[C@H](C)O2)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@H](N(C)C)[C@H]2O)[C@](C)(O)C[C@@H](C)C(=NOCOCCOC)[C@H](C)[C@@H](O)[C@]1(C)O", "name": "roxithromycin", "provided_by": ["infores:medic"], "synonym": ["Roxithromycin 75mg Tablet", "Roxithromycin Tablets", "罗红霉素片"], "xref": ["GTOPDB:1465", "PHAROS:HRSP5HTJSQMZ", "PUBCHEM.COMPOUND:6915744"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4885", "medic_application_numbers": ["013026"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["J04AD03"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c510ad58-b06d-5624-b7be-0340ddb2ae60", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007318"], "medic_reliability": "HIGH", "medic_smiles": "CCc1cc(C(N)=S)ccn1", "name": "ethionamide", "provided_by": ["infores:medic"], "synonym": ["ETHIONAMIDE", "Ethionamide", "Ethionamide 250mg Tablet"], "xref": ["DRUGBANK:DB00609"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4887", "medic_application_numbers": ["012380|040253|040430|040506|040686|080258|081306|200892|210654|211928"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["N03AD01", "N03AD51"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a3e59391-4bc0-56d3-8a78-322573daf9e4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005317"], "medic_reliability": "HIGH", "medic_smiles": "CCC1(C)CC(=O)NC1=O", "name": "ethosuximide", "provided_by": ["infores:medic"], "synonym": ["ETHOSUXIMIDE", "Ethosuximide", "Ethosuximide Tablet (250mg) & Syrup (250mg/5ml)"], "xref": ["CHEMBL.COMPOUND:CHEMBL696", "DRUGBANK:DB00593", "DrugCentral:1087", "PHAROS:VKRLPA37GDYW", "PUBCHEM.COMPOUND:3291", "UNII:5SEH9X1D1D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4888", "medic_application_numbers": ["010841"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N03AB01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6fb5ee3b-7a07-5274-a292-8b5afcc94c45", "medic_reliability": "HIGH", "medic_smiles": "CCN1C(=O)NC(c2ccccc2)C1=O", "name": "ethotoin", "provided_by": ["infores:medic"], "synonym": ["ETHOTOIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL1095", "DrugCentral:1088", "PHAROS:YRK52NMJFWP6", "PUBCHEM.COMPOUND:3292", "UNII:46QG38NC4U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48919", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240621", "medic_mention_id": "MEDICNE:01beb55c-aa75-5b94-90e3-671157c3667a", "medic_reliability": "LOW", "name": "ribaric acid anion", "provided_by": ["infores:medic"], "synonym": ["Ribapate Capsules", "瑞巴派特胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48923", "medic_application_numbers": ["060359|061304|061461|061505|061591|061605|061675|061743|061791|061887|062032|062089|062121|062322|063179"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a9e73b2a-371a-5718-8972-49dcc36f4264", "medic_reliability": "HIGH", "name": "erythromycin", "provided_by": ["infores:medic"], "synonym": ["ERYTHROMYCIN STEARATE", "Erythromycin Enteric-Coated Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL532", "PHAROS:J34G79Q8MHCV", "PUBCHEM.COMPOUND:12560"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48947", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:4635e7ee-4643-5258-9c3a-78bfd9223947", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002490"], "medic_reliability": "HIGH", "medic_smiles": "O=C([O-])[C@H]1/C(=C/CO)O[C@@H]2CC(=O)N21.[K+]", "name": "clavulanic acid", "provided_by": ["infores:medic"], "synonym": ["Amoxicillin + Clavulanic Acid", "Clavulanic Acid", "Clavulanic acid"], "xref": ["DRUGBANK:DB00766", "UNII:23521W1S24"]}
{"category": ["biolink:Drug"], "id": "CHEBI:48981", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:a2984e71-115f-5146-bf92-58b994652a04", "medic_registration_numbers": ["MOH_RUSSIA:64/228/293"], "medic_reliability": "MEDIUM", "name": "quinolin-8-ol", "provided_by": ["infores:medic"], "synonym": ["Oxyquinoline", "Оксихинолин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:49005", "medic_application_numbers": ["021882|203560|206585|206910|207124|207968|208697|208882|209223|209426|209433|209782|209878|210060|210519|210555|210727|210920|210945|211383|211395|211641|211660|211824|211852|212669|212995|213146|213374|214180|214194|214341|214474|214559|214650|215026|215137|216229"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["V03AC03"], "medic_earliest_approval_date": "20051102", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d1395504-f222-5d33-b6df-5c8f62dbfa10", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003935"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1ccc(-n2nc(-c3ccccc3O)nc2-c2ccccc2O)cc1", "name": "deferasirox", "provided_by": ["infores:medic"], "synonym": ["DEFERASIROX", "Deferasirox", "Deferasirox dispersible tablet (400mg) (addl. Strength).", "deferasirox"], "xref": ["DRUGBANK:DB01609", "UNII:V8G4MOF2V9"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4903", "medic_application_numbers": ["017488|017489|017565|017566|017576|017716|017735|017743|017919|018127|018128|018354|018977|018985|019004|021490|022573|070684|070685|070686|070687|071041|071042|071043|071044|071480|071481|071541|071542|071545|071546|072692|072693|072694|072695|072696|072697|075478|076198|076238|076337|076338|076393|076783|078323|078376|078379|078892|078965|090538|090946|090947|090948|091204|091332|091634|091636|200486|200488|200489|200897|201510|201512|201886|202086|203006|203371|203413|203448|206864|207054|207055|207056|207066|207535|207585"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["G03CA01", "L02AA03"], "medic_earliest_approval_date": "19710101", "medic_features": ["CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e748976d-c8f4-5ffe-ac2e-a3535f37d6c5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003096)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "C#C[C@]1(O)CC[C@H]2[C@@H]3CCc4cc(O)ccc4[C@H]3CC[C@@]21C", "name": "17alpha-ethynylestradiol", "provided_by": ["infores:medic"], "synonym": ["ETHINYL ESTRADIOL", "ETHINYL ESTRADIOL; NORETHINDRONE", "ETHINYLESTRAD IOL", "ETHINYLESTRADIOL", "Ethinyl estradiol", "Ethinylestradiol + Ethonogestrel", "Ethinylestradiol and Cyproterone Acetate Tablets", "dl-norgestrel 0.5mg + Ethinyl oestradiol 0.03mg", "炔雌醇环丙孕酮片"], "xref": ["CHEMBL.COMPOUND:CHEMBL691", "DRUGBANK:DB00977", "DrugCentral:1082", "GTOPDB:7071", "PHAROS:Q56V45W8QQPU", "PUBCHEM.COMPOUND:5991", "UNII:423D2T571U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4904", "medic_application_numbers": ["017751"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ec25ef2a-1bee-5fe4-bdd0-28c554af1e6f", "medic_reliability": "HIGH", "name": "etidocaine", "provided_by": ["infores:medic"], "synonym": ["EPINEPHRINE; ETIDOCAINE HYDROCHLORIDE", "ETIDOCAINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL492", "DrugCentral:1097", "GTOPDB:2621", "PHAROS:X5XBWSU3YFRL", "PUBCHEM.COMPOUND:37497", "UNII:I6CQM0F31V"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:49040", "medic_application_numbers": ["021445|078560|078724|200831|201790|203931|204331|207311|208332|208803|209234|209838|210673|210859|211159|211550|215693"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["C10AX09"], "medic_earliest_approval_date": "20021025", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:862d8664-acc6-59cf-9ec9-ba9a2d562ed8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002929"], "medic_reliability": "HIGH", "medic_smiles": "O=C1[C@H](CC[C@H](O)c2ccc(F)cc2)[C@@H](c2ccc(O)cc2)N1c1ccc(F)cc1", "name": "ezetimibe", "provided_by": ["infores:medic"], "synonym": ["Atorvastatin + Ezetimibe", "EZETIMIBE", "EZETIMIBE; ROSUVASTATIN CALCIUM", "EZETIMIBE; SIMVASTATIN", "Ezetimibe", "Ezetimibe 10 mg + Fenofibrate 145 mg Film coated tablets", "Ezetimibe 10mg + Fenofibrate 160mg tablet", "Ezetimibe and Atorvastatin Calcium Tablets (I)", "Ezetimibe and Atorvastatin Calcium Tablets (II)", "Ezetimibe and Simvastatin Tablets", "Simvastatin + Ezetimibe", "依折麦布辛伐他汀片"], "xref": ["CHEMBL.COMPOUND:CHEMBL1138", "DRUGBANK:DB00973", "DrugCentral:1125", "GTOPDB:6816", "PHAROS:B74H5RFQ9SJC", "PUBCHEM.COMPOUND:150311", "UNII:EOR26LQQ24"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4906", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19950310", "medic_mention_id": "MEDICNE:c8768e5a-b8b5-59d8-ac83-068fe3d67544", "medic_reliability": "MEDIUM", "medic_smiles": "CC(O)(P(=O)([O-])O)P(=O)([O-])O.[Na+].[Na+]", "name": "etidronate disodium", "provided_by": ["infores:medic"], "synonym": ["Etidronate Disodium 200mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:4907", "medic_application_numbers": ["017831|019545|075800"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c7cdf5ea-6f98-5756-bf3f-d4793f9a1b86", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-003584/10"], "medic_reliability": "HIGH", "name": "etidronic acid", "provided_by": ["infores:medic"], "synonym": ["ETIDRONATE DISODIUM", "Etidronic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:49073", "medic_application_numbers": ["011657"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:eaee2f9f-b5c0-53a9-8212-441204abd106", "medic_reliability": "HIGH", "medic_smiles": "O=C1CCO1", "name": "beta-propiolactone", "provided_by": ["infores:medic"], "synonym": ["PROPIOLACTONE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:490877", "medic_application_numbers": ["020154|020155|020156|021183|077167|077275|078112|090094|090788"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J05AF02"], "medic_earliest_approval_date": "19911009", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8a77c0ed-53e3-56a1-aa35-5b9b33cf01f7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001982"], "medic_reliability": "HIGH", "medic_smiles": "O=c1[nH]cnc2c1ncn2[C@H]1CC[C@@H](CO)O1", "name": "didanosine", "provided_by": ["infores:medic"], "synonym": ["DIDANOSINE", "Didanosine"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:4995", "medic_application_numbers": ["020189|201680|202284|202385|204595|206314|207093|208970|211333"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N03AX10"], "medic_earliest_approval_date": "19930729", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:578445fa-2535-57d5-9393-20799487f7ba", "medic_reliability": "HIGH", "medic_smiles": "NC(=O)OCC(COC(N)=O)c1ccccc1", "name": "felbamate", "provided_by": ["infores:medic"], "synonym": ["FELBAMATE", "Felbamate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1094", "DRUGBANK:DB00949", "DrugCentral:1140", "PHAROS:T5XG6NK31BLB", "PUBCHEM.COMPOUND:3331", "UNII:X72RBB02N8"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:49956", "medic_stub": true, "name": "xenon(0)", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:49976", "medic_application_numbers": ["018959|212007|216152|217625"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19860626", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f67d6805-73d2-5e40-a1f5-ec2e4074f7f0", "medic_reliability": "HIGH", "name": "zinc dichloride", "provided_by": ["infores:medic"], "synonym": ["ZINC CHLORIDE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5002", "medic_application_numbers": ["019922|076582|076656|077155|077826"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970923", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a7d9f912-0870-53ae-bae9-5dfa3e014b50", "medic_reliability": "HIGH", "name": "fenoldopam", "provided_by": ["infores:medic"], "synonym": ["FENOLDOPAM MESYLATE", "Fenoldopam"], "xref": ["CHEMBL.COMPOUND:CHEMBL588", "DRUGBANK:DB00800", "DrugCentral:1153", "GTOPDB:939", "PHAROS:8JM1SAV8DS1Y", "PUBCHEM.COMPOUND:3341", "UNII:INU8H2KAWG"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:50114", "medic_stub": true, "name": "estrogen", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50122", "medic_application_numbers": ["021071|076747"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A10BG02"], "medic_earliest_approval_date": "19990525", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9fa1a3c0-9768-53fe-94b3-003c10809e29", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001141/10"], "medic_reliability": "HIGH", "medic_smiles": "CN(CCOc1ccc(CC2SC(=O)NC2=O)cc1)c1ccccn1", "name": "rosiglitazone", "provided_by": ["infores:medic"], "synonym": ["ROSIGLITAZONE MALEATE", "Rosiglitazone", "Rosiglitazone 2mg/4mg/8mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL121,CHEMBL843", "DRUGBANK:DB00412", "DrugCentral:2405", "GTOPDB:1056", "PHAROS:M55WRV5WU2U6", "PUBCHEM.COMPOUND:77999,25058199", "UNII:05V02F2KDG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50169", "medic_application_numbers": ["211371"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N06AX29"], "medic_earliest_approval_date": "20190617", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b3a1d163-9268-5052-afad-36c8622c8850", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)[C@H]1CC[C@H]2[C@@H]3CC[C@H]4C[C@H](O)CC[C@]4(C)[C@H]3CC[C@]12C", "name": "brexanolone", "provided_by": ["infores:medic"], "synonym": ["BREXANOLONE", "Brexanolone"], "xref": ["DRUGBANK:DB11859"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50172", "medic_application_numbers": ["019821|091455|202148|202552|202897|203707|204633|217774"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19961028", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:853a8085-b5b2-5341-a49c-0c13521f0991", "medic_registration_numbers": ["MOH_RUSSIA:П N016163/01"], "medic_reliability": "HIGH", "name": "acitretin", "provided_by": ["infores:medic"], "synonym": ["ACITRETIN", "Acitretin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1131", "DRUGBANK:DB00459", "DrugCentral:78", "PHAROS:KZFPFPZVL7XB", "PUBCHEM.COMPOUND:5284513", "UNII:LCH760E9T7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50199", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01MA03"], "medic_earliest_approval_date": "20050916", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:59fb42be-9c66-54c2-94f4-2006b8b2db51", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007415"], "medic_reliability": "MEDIUM", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc(F)c(N3CCN(C)CC3)cc21", "name": "pefloxacin", "provided_by": ["infores:medic"], "synonym": ["Pefloxacin", "Пефлоксацин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50211", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19681128", "medic_mention_id": "MEDICNE:e5117d47-5df1-53a9-a3bd-09db43e54aa9", "medic_registration_numbers": ["MOH_RUSSIA:68/837/24"], "medic_reliability": "HIGH", "name": "retinol", "provided_by": ["infores:medic"], "synonym": ["Retinol", "Retinol + Tocopherol", "Vitamin E + Cholecalciferol + Retinol", "Vitamin E + Retinol"], "xref": ["CHEMBL.COMPOUND:CHEMBL986", "DRUGBANK:DB00162", "DrugCentral:2831", "GTOPDB:4053", "PHAROS:LKB2KDK4XY9M", "PUBCHEM.COMPOUND:445354", "UNII:G2SH0XKK91"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50212", "medic_mention_id": "MEDICNE:15bbcfa0-bf3f-5060-855a-785eea100e0d", "medic_reliability": "EXCLUDED", "name": "pizotifen", "provided_by": ["infores:medic"], "synonym": ["Pizotifen"], "xref": ["CHEMBL.COMPOUND:CHEMBL294951", "DRUGBANK:DB06153", "GTOPDB:93", "PHAROS:63UBX4P5HQ9D", "PUBCHEM.COMPOUND:27400"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50217", "medic_application_numbers": ["019334|020647|021479|074537|074565|074641|074672|074744|074756|074866|074871|074912|075145|075321|075352|206803"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19890605", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7b5229e1-f72b-557f-90b5-f3e027f4e760", "medic_reliability": "HIGH", "name": "selegiline", "provided_by": ["infores:medic"], "synonym": ["SELEGILINE", "SELEGILINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL972,CHEMBL1200904", "DrugCentral:2429", "GTOPDB:6639", "PHAROS:4ZNCJ37XW31H", "PUBCHEM.COMPOUND:26757,26758", "UNII:2K1V7GP655"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50223", "medic_application_numbers": ["020212|022025|076068|200752|207321|216748"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19950526", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f63c10ec-e516-5abc-a6f5-5a1bb76e40f8", "medic_registration_numbers": ["MOH_RUSSIA:П N012169/01"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H](CN1CC(=O)NC(=O)C1)N1CC(=O)NC(=O)C1.Cl", "name": "(+)-dexrazoxane", "provided_by": ["infores:medic"], "synonym": ["DEXRAZOXANE", "DEXRAZOXANE HYDROCHLORIDE", "Dexrazoxane", "dexrazoxane"], "xref": ["UNII:048L81261F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50270", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19970827", "medic_mention_id": "MEDICNE:0c0871b1-023b-5570-83c9-6542e1917434", "medic_reliability": "MEDIUM", "name": "pantoprazole sodium", "provided_by": ["infores:medic"], "synonym": ["Pantaprazole sodium 20mg/40mg Tablet (with sodium bicarbonate As buffer)", "Pantoprazole Sodium (With Sodium bicarbonate as buffer) 20mg/40mg tablets", "Pantoprazole Sodium Enteric-Coated Capsules", "Pantoprazole Sodium Enteric-Coated Tablets", "Pantoprazole Sodium for Injection", "注射用泮托拉唑钠"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:50275", "medic_application_numbers": ["021153|021957|022101|078003|078279|078936|090841|202784|203636|204655|205563|205606|206055|206296|207193|207198|207265|207673|207920|208333|208511|208939|209202|209339|209495|209647|209716|209735|210559|211571|211751|211752|211977|212088|212376|212507|212651|212652|212866|212949|213158|213486|213859|214278|214473|214920|216149|216349|217022|217264|217427|217714|218092|218948|219213"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20010220", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:6ff2c9c4-1e95-5729-acd2-fafa336600e4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001170"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc2[n-]c([S@@+]([O-])Cc3ncc(C)c(OC)c3C)nc2c1.[Na+]", "name": "esomeprazole", "provided_by": ["infores:medic"], "synonym": ["ESOMEPRAZOLE MAGNESIUM", "ESOMEPRAZOLE MAGNESIUM HYDRATE", "ESOMEPRAZOLE MAGNESIUM; NAPROXEN", "ESOMEPRAZOLE SODIUM", "Esomeprazole", "Esomeprazole (with Sodium bicarbonate as buffer) 20mg/40mg tablets", "Naproxen + Esomeprazole", "esomeprazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201320", "DRUGBANK:DB00736", "DrugCentral:1055", "PHAROS:32AV3B2YL85T", "PUBCHEM.COMPOUND:9568614", "UNII:N3PA6559FT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50305", "medic_application_numbers": ["019795|020529|075600|090184|211871"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["D06BB04"], "medic_earliest_approval_date": "19901213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4f2c2eee-15ac-5bc4-b4b6-d8a2fb624c61", "medic_registration_numbers": ["MOH_RUSSIA:П N013828/01"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc([C@@H]2c3cc4c(cc3[C@H](O)[C@H]3COC(=O)[C@H]23)OCO4)cc(OC)c1OC", "name": "podophyllotoxin", "provided_by": ["infores:medic"], "synonym": ["PODOFILOX", "Podofilox", "Podophyllotoxin"], "xref": ["CHEMBL.COMPOUND:CHEMBL61", "DRUGBANK:DB01179", "DrugCentral:3481", "PHAROS:TC48JX7ZBBD1", "PUBCHEM.COMPOUND:10607", "UNII:L36H50F353"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50309", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20021016", "medic_mention_id": "MEDICNE:a8e3f69e-537f-53a2-9367-25ebe4be5055", "medic_reliability": "MEDIUM", "name": "esomeprazole magnesium", "provided_by": ["infores:medic"], "synonym": ["Esomeprazole Magnesium Enteric-Coated Capsules", "Esomeprazole Magnesium Enteric-Coated Tablets", "Esomeprazole magnesium Delayed Release Tablets 20mg/40mg (Additional Indication)", "艾司奥美拉唑镁肠溶片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50373", "medic_application_numbers": ["005213|040285|040295|040613|088008|088017|088066|088508|091528|203535|204765|205731|207176|207487|210663"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e6191c53-694a-5217-9882-cbecaa931d57", "medic_reliability": "HIGH", "name": "homatropine methylbromide", "provided_by": ["infores:medic"], "synonym": ["HOMATROPINE METHYLBROMIDE", "HOMATROPINE METHYLBROMIDE; HYDROCODONE BITARTRATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:50512", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210709", "medic_mention_id": "MEDICNE:08424fe6-9ab3-5ea2-9af7-f27a8238fd00", "medic_reliability": "MEDIUM", "name": "lidocaine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Lidocaine Hydrochloride Injection", "盐酸利多卡因注射液"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50667", "medic_application_numbers": ["009053|040461|040528|040594|205919|216418"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f8605ce2-eaba-53c7-b793-ae4115337dec", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004446"], "medic_reliability": "HIGH", "name": "mercaptopurine", "provided_by": ["infores:medic"], "synonym": ["MERCAPTOPURINE", "Mercaptopurine", "Mercaptopurine Tablets", "mercaptopurine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1425", "DRUGBANK:DB01033", "DrugCentral:1708", "PHAROS:GVGMMZSCWXZJ", "PUBCHEM.COMPOUND:667490", "UNII:PKK6MUZ20G"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:50686", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19990917", "medic_mention_id": "MEDICNE:0ef7823e-5a81-506b-9f7b-ec38b3e0e54d", "medic_reliability": "MEDIUM", "name": "atorvastatin calcium", "provided_by": ["infores:medic"], "synonym": ["42. 5mg/10mg/20mg/40mg/80mg Atorvastatin calcium (Additional Dosage Form)", "Atorvastatin Calcium (10mg) + Fenofibrate (145mg) (addl. strength)", "Atorvastatin Calcium 10mg/20mg/40mg Film Coated Tablet", "Atorvastatin Calcium 80mg tablets (Additional Strength)", "Atorvastatin Calcium Tablets", "阿托伐他汀钙片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50688", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:f9cbca8a-e893-5a55-942a-09a78c6aa999", "medic_reliability": "MEDIUM", "name": "metronidazole benzoate", "provided_by": ["infores:medic"], "synonym": ["Metronidazole Benzoate (eq. to Metronidazole) 200mg/5ml Suspension"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50692", "medic_application_numbers": ["020687|091178|202107|211436|216616"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["G03XB01", "G03XB51"], "medic_earliest_approval_date": "20000928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d287dae9-6f2b-5f16-a266-fc0a646814c5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000572"], "medic_reliability": "HIGH", "medic_smiles": "CC#C[C@]1(O)CC[C@H]2[C@@H]3CCC4=CC(=O)CCC4=C3[C@@H](c3ccc(N(C)C)cc3)C[C@@]21C", "name": "mifepristone", "provided_by": ["infores:medic"], "synonym": ["MIFEPRISTONE", "Mifepristone", "Mifepristone Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1276308", "DRUGBANK:DB00834", "DrugCentral:1805", "GTOPDB:2805", "PHAROS:WGH879VG45KF", "PUBCHEM.COMPOUND:55245", "UNII:320T6RNW1F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50693", "medic_application_numbers": ["019436|020343|075510|075530|075660|075830|075834|075852|075884|075885|075936|076013|076259|076414|076427|076428|077151|077190|077966|078113|090038|203280|209666|211671|213585|214380|216373|219170"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19871231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:05978eb9-7433-5450-9a19-7307d6728c01", "medic_reliability": "HIGH", "medic_smiles": "CC(O)C(=O)O.Cc1[nH]c(=O)c(C#N)cc1-c1ccncc1", "name": "milrinone", "provided_by": ["infores:medic"], "synonym": ["MILRINONE LACTATE", "Milrinone", "Milrinone (as Lactate) 1mg/ml solution Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL189", "DRUGBANK:DB00235", "DrugCentral:1809", "GTOPDB:5225", "PHAROS:HFTSHTBFLM9Q", "PUBCHEM.COMPOUND:4197", "UNII:JU9YAX04C7"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:50697", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19941202", "medic_mention_id": "MEDICNE:bf8b4a82-b0c9-5a1d-9be1-194043435878", "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)c1ccc(O)c2c1C[C@H]1C[C@H]3[C@H](N(C)C)C(O)=C(C(N)=O)C(=O)[C@@]3(O)C(O)=C1C2=O.Cl", "name": "minocycline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Minocycline Hydrochloride Capsules", "Minocycline Hydrochloride Tablets", "盐酸米诺环素胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50727", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231204", "medic_mention_id": "MEDICNE:a38b0602-757b-5dfa-b2e0-931be72cdd20", "medic_reliability": "MEDIUM", "name": "mitoxantrone dihydrochloride", "provided_by": ["infores:medic"], "synonym": ["Mitoxantrone Hydrochloride Injection", "盐酸米托蒽醌注射液"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:50848", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["S01BA14"], "medic_earliest_approval_date": "20240415", "medic_features": ["STEROID"], "medic_mention_id": "MEDICNE:ce368e23-00f1-595f-ab24-ded5163b374d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005177)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)O[C@]1(C(=O)OCCl)CC[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@H]3[C@@H](O)C[C@@]21C", "name": "loteprednol", "provided_by": ["infores:medic"], "synonym": ["Loteprednol", "Loteprenol"], "xref": ["DRUGBANK:DB00873", "UNII:Z8CBU6KR16"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50851", "medic_application_numbers": ["010554"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1541c833-a65e-5487-bd5c-3d8e3489fbd3", "medic_reliability": "HIGH", "name": "hydrocortamate", "provided_by": ["infores:medic"], "synonym": ["HYDROCORTAMATE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201263", "DrugCentral:1387", "PHAROS:4RN1XHVDRDX7", "PUBCHEM.COMPOUND:84088", "UNII:Y3N00BK5WK"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:50867", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C10AB08"], "medic_earliest_approval_date": "19980501", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:f55f46f7-60cc-5168-aebf-637736fcb978", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(Oc1ccc(C2CC2(Cl)Cl)cc1)C(=O)O", "name": "ciprofibrate", "provided_by": ["infores:medic"], "synonym": ["Ciprofibrate", "Ciprofibrate 100mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL557555", "DRUGBANK:DB09064", "DrugCentral:658", "GTOPDB:3438", "PHAROS:AHNNWLKHZ9KC", "PUBCHEM.COMPOUND:2763", "UNII:F8252JGO9S"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5088", "medic_application_numbers": ["016769|076234|076831|076835"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9697feb3-5df3-554b-9b60-85221189f4ad", "medic_reliability": "HIGH", "medic_smiles": "Cc1c(-c2ccccc2)oc2c(C(=O)OCCN3CCCCC3)cccc2c1=O.Cl", "name": "flavoxate", "provided_by": ["infores:medic"], "synonym": ["FLAVOXATE HYDROCHLORIDE", "Flavoxate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200875", "DRUGBANK:DB01148", "DrugCentral:1175", "PHAROS:WSX1J2LSSM1S", "PUBCHEM.COMPOUND:45489758", "UNII:3E74Y80MEY"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5089", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b9d92ad4-4a7a-589f-b103-493ba2101e20", "medic_reliability": "MEDIUM", "name": "flavoxate hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Flavoxate Hydrochloride 100mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50904", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:bd681f3e-265a-5898-8576-87e747d23287", "medic_reliability": "LOW", "name": "allergen", "provided_by": ["infores:medic"], "synonym": ["Allergens"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:50924", "medic_application_numbers": ["021923|207012|209050|209567|212228|216073|217095"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "20051220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9ecc0c5a-a1fc-5580-bace-765da84bab8e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004369"], "medic_reliability": "HIGH", "medic_smiles": "CNC(=O)c1cc(Oc2ccc(NC(=O)Nc3ccc(Cl)c(C(F)(F)F)c3)cc2)ccn1.Cc1ccc(S(=O)(=O)O)cc1", "name": "sorafenib", "provided_by": ["infores:medic"], "synonym": ["SORAFENIB TOSYLATE", "Sorafenib", "Sorafenib (as Tosylate) (200mg) Tablet.", "Sorafenib tablets 200mg (Additional Indication)", "sorafenib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1336,CHEMBL3928540,CHEMBL1200485", "DRUGBANK:DB00398", "DrugCentral:2459", "GTOPDB:5711", "PHAROS:4DAR47Y95JGR", "PUBCHEM.COMPOUND:216239,60150671,25058195", "UNII:9ZOQ3TZI87"]}
{"category": ["biolink:Drug"], "id": "CHEBI:50928", "medic_approved_authorities": ["NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan"], "medic_earliest_approval_date": "20060912", "medic_mention_id": "MEDICNE:0fc3bd6e-c695-5aff-ae5b-a43a0c6b876d", "medic_reliability": "MEDIUM", "name": "sorafenib tosylate", "provided_by": ["infores:medic"], "synonym": ["SORAFENIB TOSILATE", "Sorafenib Tosylate Tablets", "甲苯磺酸索拉非尼片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5098", "medic_mention_id": "MEDICNE:71b3af98-6726-5f02-942b-5d4bb94c43fe", "medic_reliability": "EXCLUDED", "name": "flucloxacillin", "provided_by": ["infores:medic"], "synonym": ["Flucloxacillin"], "xref": ["DRUGBANK:DB00301"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:51016", "medic_application_numbers": ["013553"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7e4112d7-5bf4-54e0-80cd-49cafcb14c75", "medic_reliability": "HIGH", "medic_smiles": "N=C(N)NCCN1CCCCCCC1.O=S(=O)(O)O", "name": "guanethidine monosulfate", "provided_by": ["infores:medic"], "synonym": ["GUANETHIDINE MONOSULFATE", "GUANETHIDINE MONOSULFATE; HYDROCHLOROTHIAZIDE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:51037", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20211124", "medic_mention_id": "MEDICNE:d1e8b8ee-4654-562a-a434-25bb43a8e5b7", "medic_reliability": "LOW", "name": "epinastine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Epitastine Hydrochloride Granules", "盐酸依匹斯汀颗粒"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51040", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220518", "medic_mention_id": "MEDICNE:ecf8f1e9-f916-535d-b930-429159454e9a", "medic_reliability": "LOW", "name": "minaprine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Minaprene Hydrochloride Capsules", "Minaprene Hydrochloride Tablets", "盐酸米那普仑片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:51041", "medic_application_numbers": ["021431|200142|200143|202229|205995|219904"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["N07BB03"], "medic_earliest_approval_date": "20040729", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:91fe5993-9911-54d0-97c2-2d231b8fc577", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)NCCCS(=O)(=O)O", "name": "acamprosate", "provided_by": ["infores:medic"], "synonym": ["ACAMPROSATE CALCIUM", "Acamprosate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201293", "DRUGBANK:DB00659", "DrugCentral:38", "PHAROS:NHKC2HCWANW8", "PUBCHEM.COMPOUND:71158", "UNII:N4K14YGM3J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51043", "medic_application_numbers": ["021200"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20020724", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5b5f6af4-3578-56cb-84fe-b3302562dce7", "medic_reliability": "HIGH", "name": "tegaserod", "provided_by": ["infores:medic"], "synonym": ["TEGASEROD MALEATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL76370", "PHAROS:4PNNLFXQSZQR", "PUBCHEM.COMPOUND:135409453", "UNII:458VC51857"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5106", "medic_application_numbers": ["018148|018340|020409|021247|074805|077436|077704|207802"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["R01AD04", "R03BA03"], "medic_earliest_approval_date": "19820101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6b426c44-d4dd-5956-ac32-c90a3db4ee06", "medic_reliability": "HIGH", "medic_smiles": "CC1(C)O[C@@H]2C[C@H]3[C@@H]4C[C@H](F)C5=CC(=O)C=C[C@]5(C)[C@H]4[C@@H](O)C[C@]3(C)[C@]2(C(=O)CO)O1", "name": "flunisolide", "provided_by": ["infores:medic"], "synonym": ["FLUNISOLIDE", "Flunisolide", "Flunisolide 0.025% w/v Nasal Spray"], "xref": ["CHEMBL.COMPOUND:CHEMBL1512", "DRUGBANK:DB00180", "DrugCentral:1201", "GTOPDB:7076", "PHAROS:YYW5APNQR5D8", "PUBCHEM.COMPOUND:82153,74144", "UNII:78M02AA8KF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51066", "medic_application_numbers": ["019849|204902"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19901231", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:48a6ec34-1eca-5a3e-92f6-a33b2506aa95", "medic_reliability": "HIGH", "name": "dapiprazole", "provided_by": ["infores:medic"], "synonym": ["DAPIPRAZOLE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201216", "DrugCentral:781", "GTOPDB:7155", "PHAROS:V1TA25VTYMP5", "PUBCHEM.COMPOUND:3033538", "UNII:5RNZ8GJO7K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5108", "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_mention_id": "MEDICNE:b35d565a-0e61-59bb-958d-218f96ea3cf9", "medic_reliability": "EXCLUDED", "medic_smiles": "C[C@]12C=CC(=O)C=C1[C@@H](F)C[C@H]1[C@@H]3C[C@@H](O)[C@](O)(C(=O)CO)[C@@]3(C)C[C@H](O)[C@@]12F", "name": "Fluocinolone", "provided_by": ["infores:medic"], "synonym": ["Fluocinolone"], "xref": ["DRUGBANK:DB12553"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:51137", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N06AX03"], "medic_earliest_approval_date": "20071225", "medic_mention_id": "MEDICNE:39a5a938-5d6a-54ec-8e4e-ddf9da2dd8f9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011941)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN2c3ccccc3Cc3ccccc3C2C1", "name": "mianserin", "provided_by": ["infores:medic"], "synonym": ["Mianserin"], "xref": ["CHEMBL.COMPOUND:CHEMBL6437", "DRUGBANK:DB06148", "DrugCentral:1796", "GTOPDB:135", "PHAROS:X2LWM2TXM46X", "PUBCHEM.COMPOUND:4184", "UNII:250PJI13LM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:51141", "medic_application_numbers": ["021287|079013|079014|079054|079056|079057|079060|090221|090284|203192"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["G04CA01"], "medic_earliest_approval_date": "20030612", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:63d3273a-7296-59f6-8b36-d10d4b4428b8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000665"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2nc(N(C)CCCNC(=O)C3CCCO3)nc(N)c2cc1OC", "name": "alfuzosin", "provided_by": ["infores:medic"], "synonym": ["ALFUZOSIN HYDROCHLORIDE", "Alfuzosin"], "xref": ["CHEMBL.COMPOUND:CHEMBL709", "DRUGBANK:DB00346", "DrugCentral:115", "GTOPDB:7109", "PHAROS:5BLLG4C71Z94", "PUBCHEM.COMPOUND:2092", "UNII:90347YTW5F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51147", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20051230", "medic_mention_id": "MEDICNE:f3ddfed6-1be4-5773-8387-bb059ba59a87", "medic_reliability": "MEDIUM", "medic_smiles": "CCCN[C@H]1CCc2nc(N)sc2C1.Cl.Cl.O", "name": "pramipexole hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Pramipexole Hydrochloride Extended-Release Tablets", "Pramipexole Hydrochloride Tablets", "盐酸普拉克索缓释片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51157", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19990518", "medic_mention_id": "MEDICNE:10af1314-a0e7-5734-a1a8-407c8b6b32e0", "medic_reliability": "MEDIUM", "name": "brimonidine tartrate", "provided_by": ["infores:medic"], "synonym": ["Brimonidine Tartrate 0.2% (eq. to Brimonidine base 0.13%) Ophthalmic Solution"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51176", "medic_application_numbers": ["012928"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b1ba5a5b-85e1-5944-812b-9de0ab633d4f", "medic_reliability": "HIGH", "name": "levopropoxyphene napsylate", "provided_by": ["infores:medic"], "synonym": ["LEVOPROPOXYPHENE NAPSYLATE ANHYDROUS"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5134", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080715", "medic_mention_id": "MEDICNE:f10f9e74-94c8-5221-b427-a3174bd1f5c9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002852"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@]2(C)[C@@]1(O)C(=O)SCF", "name": "fluticasone", "provided_by": ["infores:medic"], "synonym": ["Fluticasone", "Salmeterol + Fluticasone"], "xref": ["DRUGBANK:DB13867", "UNII:CUT2W21N7U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51352", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071126", "medic_mention_id": "MEDICNE:1cee25f1-b0fd-5338-ae23-3df23c486293", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001527/08"], "medic_reliability": "MEDIUM", "name": "benzylpenicillin benzathine", "provided_by": ["infores:medic"], "synonym": ["Benzathine benzylpenicillin", "Бензатина бензилпенициллин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51364", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["N05AF05"], "medic_earliest_approval_date": "20081017", "medic_mention_id": "MEDICNE:2d0a11ff-758c-5222-9f31-d20a8ce98812", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011913)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "OCCN1CCN(CC/C=C2/c3ccccc3Sc3ccc(Cl)cc32)CC1", "name": "zuclopenthixol", "provided_by": ["infores:medic"], "synonym": ["Zuclopenthixol", "Zuklopentixol"], "xref": ["CHEMBL.COMPOUND:CHEMBL53904", "DRUGBANK:DB01624", "DrugCentral:2877", "PHAROS:W34CD16VUPW2", "PUBCHEM.COMPOUND:5311507", "UNII:47ISU063SG"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5137", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20090409", "medic_mention_id": "MEDICNE:ac347240-c9b4-5894-b215-7e60a30057ac", "medic_reliability": "MEDIUM", "name": "fluvastatin sodium", "provided_by": ["infores:medic"], "synonym": ["Fluvastatin Sodium Extended-Release Tablets", "氟伐他汀钠缓释片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5139", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19981218", "medic_mention_id": "MEDICNE:34f37e69-cfa6-53dc-abff-a91792ca80c1", "medic_reliability": "MEDIUM", "name": "Fluvoxamine maleate", "provided_by": ["infores:medic"], "synonym": ["Fluvoxamine Maleate 50mg/100mg Film Coated Tablet", "Fluvoxamine Maleate Tablets", "马来酸氟伏沙明片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5141", "medic_application_numbers": ["020696|078368|078537|078639|079033|216791"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["V03AB34"], "medic_earliest_approval_date": "19971204", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f3085f93-36d3-599c-95ae-c4c29ea2d691", "medic_reliability": "HIGH", "medic_smiles": "Cc1cn[nH]c1", "name": "fomepizole", "provided_by": ["infores:medic"], "synonym": ["FOMEPIZOLE", "Fomepizole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1308", "DRUGBANK:DB01213", "DrugCentral:1233", "PHAROS:13CLBGGWJ5GB", "PUBCHEM.COMPOUND:3406", "UNII:83LCM6L2BY"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5147", "medic_application_numbers": ["208294"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20010216", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2d963952-2b1e-5c86-baba-b1c35e906440", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003180"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(C[C@@H](C)NC[C@H](O)c2ccc(O)c(NC=O)c2)cc1.O.O=C(O)/C=C/C(=O)O", "name": "formoterol", "provided_by": ["infores:medic"], "synonym": ["Beclomethasone + Formoterol", "FORMOTEROL FUMARATE", "FORMOTEROL FUMARATE HYDRATE", "FORMOTEROL FUMARATE; GLYCOPYRROLATE", "FORMOTEROL FUMARATE; MOMETASONE FUROATE", "Formoterol", "Mometasone + Formoterol", "aclidinium bromide;formoterol", "beclometasone;formoterol;glycopyrronium bromide", "formoterol;glycopyrronium bromide;budesonide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1363,CHEMBL605993,CHEMBL1200811", "DRUGBANK:DB00983", "DrugCentral:4943", "GTOPDB:7479", "PHAROS:8VK3JF52T893", "PUBCHEM.COMPOUND:3083544,9847067,49800025", "UNII:5ZZ84GCW8B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5162", "medic_application_numbers": ["050717|211881|212548|214554|216600|217187|217608"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19961219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e4f9bca4-f459-596a-bd3b-76ab7496e0a8", "medic_reliability": "HIGH", "name": "Fosfomycin tromethamine", "provided_by": ["infores:medic"], "synonym": ["FOSFOMYCIN TROMETHAMINE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5164", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20171227", "medic_mention_id": "MEDICNE:c1e001fb-078b-5af5-a64c-12edc9b6f398", "medic_reliability": "MEDIUM", "medic_smiles": "CCC(=O)O[C@@H](O[P@](=O)(CCCCc1ccccc1)CC(=O)N1C[C@H](C2CCCCC2)C[C@H]1C(=O)[O-])C(C)C.[Na+]", "name": "fosinopril sodium", "provided_by": ["infores:medic"], "synonym": ["Fosinopril Sodium Tablets", "福辛普利钠片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:51770", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01CR04"], "medic_earliest_approval_date": "20080721", "medic_features": ["ANTIMICROBIAL", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:70fdd0ae-a7db-5883-aca7-b166fdde38a7", "medic_registration_numbers": ["MOH_RUSSIA:П N014013/03"], "medic_reliability": "MEDIUM", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](N)c3ccccc3)C(=O)N2[C@H]1C(=O)OCOC(=O)[C@@H]1N2C(=O)C[C@H]2S(=O)(=O)C1(C)C", "name": "sultamicillin", "provided_by": ["infores:medic"], "synonym": ["Sultamicillin", "Сультамициллин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:51817", "medic_mention_id": "MEDICNE:f06a2914-e45f-5c64-86ef-22a5c6e27d0d", "medic_reliability": "EXCLUDED", "name": "temocillin", "provided_by": ["infores:medic"], "synonym": ["Temocillin"], "xref": ["DRUGBANK:DB12343"]}
{"category": ["biolink:Drug"], "id": "CHEBI:518413", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071213", "medic_mention_id": "MEDICNE:d4ac2bc6-a845-59d5-8705-edd2c8571828", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006992)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "alverine", "provided_by": ["infores:medic"], "synonym": ["Alverin+Simethicone", "Алверин+Симетикон"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:51903", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090630", "medic_mention_id": "MEDICNE:f9bc04c7-587a-5b4b-a9d7-d0a3cf018627", "medic_registration_numbers": ["MOH_RUSSIA:П N015890/01"], "medic_reliability": "LOW", "name": "calcein", "provided_by": ["infores:medic"], "synonym": ["Calcemin", "Кальцемин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5195", "medic_application_numbers": ["011270|011323"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["G01AX06"], "medic_earliest_approval_date": "19720404", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ece267ed-cf15-51a1-a02a-3e4dcf1adcd6", "medic_registration_numbers": ["MOH_RUSSIA:72/270/9"], "medic_reliability": "HIGH", "medic_smiles": "O=C1OCCN1/N=C/c1ccc([N+](=O)[O-])o1", "name": "furazolidone", "provided_by": ["infores:medic"], "synonym": ["FURAZOLIDONE", "Furazolidone"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52010", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20141229", "medic_mention_id": "MEDICNE:4dc5b69e-7fcd-507e-b6e3-1f7999d0288e", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001001"], "medic_reliability": "HIGH", "name": "chlorphenamine", "provided_by": ["infores:medic"], "synonym": ["Chlorphenamine", "Chlorpheniramine"], "xref": ["CHEMBL.COMPOUND:CHEMBL505", "DRUGBANK:DB01114", "DrugCentral:616", "GTOPDB:6976", "PHAROS:2Y781B63JW42", "PUBCHEM.COMPOUND:2725", "UNII:3U6IO1965U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52071", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710823", "medic_mention_id": "MEDICNE:7453937f-b2b0-5ce0-bf37-afd9d48d981e", "medic_registration_numbers": ["MOH_RUSSIA:71/609/31"], "medic_reliability": "MEDIUM", "name": "dextran", "provided_by": ["infores:medic"], "synonym": ["Dextran", "Dextran 40", "Dextran [average molecular weight 30,000–40,000]", "Dextran [average molecular weight 35,000–45,000]", "Dextran [average molecular weight 50,000–70,000]", "Hypromellose + Dextran", "Декстран [ср.мол.масса 50000-70000]"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:520985", "medic_application_numbers": ["021001|078027|205171|205523"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20010507", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ce9742a1-2486-5ad1-91ae-9c4a04a5c004", "medic_reliability": "HIGH", "medic_smiles": "CN(C)CCc1c[nH]c2ccc(CS(=O)(=O)N3CCCC3)cc12.O=C(O)CC(O)C(=O)O", "name": "almotriptan", "provided_by": ["infores:medic"], "synonym": ["ALMOTRIPTAN MALATE", "Almotriptan", "Almotriptan Tablet 6.25mg/12.5mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1505", "DRUGBANK:DB00918", "DrugCentral:128", "PHAROS:7WKJVHVZU8XF", "PUBCHEM.COMPOUND:123606", "UNII:1O4XL5SN61"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:521033", "medic_application_numbers": ["021319|090095|200899|202204|202421|202530|202660|202808|203118|203241|204262|204292|204373|204376|204705|206373|206574|207935|208227|209909"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["G04CB02"], "medic_earliest_approval_date": "20011120", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6b41cae8-5d84-5b8c-9add-bcf60ddeb998", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004686"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12C=CC(=O)N[C@@H]1CC[C@@H]1[C@@H]2CC[C@]2(C)[C@@H](C(=O)Nc3cc(C(F)(F)F)ccc3C(F)(F)F)CC[C@@H]12", "name": "dutasteride", "provided_by": ["infores:medic"], "synonym": ["DUTASTERIDE", "DUTASTERIDE; TAMSULOSIN HYDROCHLORIDE", "Dutasteride", "Dutasteride + Tamsulosin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200969", "DRUGBANK:DB01126", "DrugCentral:973", "PHAROS:6F6RG1Y37Y7T", "PUBCHEM.COMPOUND:6918296", "UNII:O0J6XJN02I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52134", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:2e7f5d63-f6c1-572f-91e6-9852642248d1", "medic_reliability": "MEDIUM", "medic_smiles": "Cc1onc(-c2ccccc2)c1C(=O)N[C@@H]1C(=O)N2[C@@H]1SC(C)(C)[C@@H]2C(=O)[O-].[Na+]", "name": "oxacillin sodium", "provided_by": ["infores:medic"], "synonym": ["Oxacillin Sodium 250mg Capsule"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52154", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090930", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:f1e7cb71-398e-5c59-b00e-133283ab5376", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001773)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "benzylpenicillin procaine", "provided_by": ["infores:medic"], "synonym": ["Benzathine Benzylpenicillin + Benzylpenicillin Procaine", "Бензатина бензилпенициллин+Бензилпенициллин прокаина"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:52172", "medic_application_numbers": ["218922"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20071029", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c8a2e99d-d755-50bc-9b54-75a6ab6e23f9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000574"], "medic_reliability": "HIGH", "medic_smiles": "Cc1cn(-c2cc(NC(=O)c3ccc(C)c(Nc4nccc(-c5cccnc5)n4)c3)cc(C(F)(F)F)c2)cn1.Cl.O", "name": "nilotinib", "provided_by": ["infores:medic"], "synonym": ["NILOTINIB D-TARTRATE", "NILOTINIB HYDROCHLORIDE", "NILOTINIB HYDROCHLORIDE HYDRATE", "NILOTINIB TARTRATE", "Nilotinib", "Nilotinib Capsules", "nilotinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL255863", "DRUGBANK:DB04868", "DrugCentral:1932", "GTOPDB:5697", "PHAROS:HBA97ATR7TC8", "PUBCHEM.COMPOUND:644241", "UNII:F41401512X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52221", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240220", "medic_mention_id": "MEDICNE:29a73582-1365-5596-91d2-e34a59ec0d40", "medic_reliability": "MEDIUM", "name": "isothiocyanate", "provided_by": ["infores:medic"], "synonym": ["Isothiocyanate Injection", "异硫蓝注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:52683", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:806d469a-2fc0-52da-a141-9b22f3e219b9", "medic_reliability": "EXCLUDED", "name": "butane-1,3-diol", "provided_by": ["infores:medic"], "synonym": ["1,3-butanediol"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:52717", "medic_application_numbers": ["021602|202963|203654|204405|205004|205160|205533|205857|206927|208392|208460|209191|209622|209659|210204|210824|211898|212204|212782|212825|212958|213823|215011|215331|215441|216528|216912|218688|219167"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01XG01"], "medic_earliest_approval_date": "20030513", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d2049cc3-88f2-54e6-9803-3da88c6a507e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002428"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C[C@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)c1cnccn1)B(O)O", "name": "bortezomib", "provided_by": ["infores:medic"], "synonym": ["BORTEZOMIB", "Bortezomib", "Bortezomib 2mg/vial (additional pack size)", "Bortezomib Capsules", "Bortezomib Injection (additional indication)", "Bortezomib for Injection", "Bortezomib for injection 3.5mg (Sub- cutaneous route of administration as an alternate to intravenous route) (Additional route of administration)", "bortezomib"], "xref": ["CHEMBL.COMPOUND:CHEMBL325041", "DRUGBANK:DB00188", "DrugCentral:391", "GTOPDB:6391", "PHAROS:HBWAWX2HPNMG", "PUBCHEM.COMPOUND:387447", "UNII:69G8BD63PP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5280", "medic_application_numbers": ["021493|022548|079084|202653|203189|204227|206446|213542"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J01MA16", "S01AE06"], "medic_earliest_approval_date": "20030328", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5e637001-60f6-526a-8414-0fcecd8de1d2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001525"], "medic_reliability": "HIGH", "medic_smiles": "COc1c(N2CCNC(C)C2)c(F)cc2c(=O)c(C(=O)O)cn(C3CC3)c12", "name": "gatifloxacin", "provided_by": ["infores:medic"], "synonym": ["GATIFLOXACIN", "Gatifloxacin"], "xref": ["DRUGBANK:DB01044", "UNII:81485Y3A9A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5291", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20070802", "medic_mention_id": "MEDICNE:80c29347-8871-5cfc-9c7d-c485740ca42a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003180)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "gelatin", "provided_by": ["infores:medic"], "synonym": ["Gelatin", "Gelatin + Potassium chloride + Calcium chloride + Magnesium chloride + Sodium acetate + Sodium chloride", "Gelatin Capsules", "Желатин+Калия хлорид+Кальция хлорид+Магния хлорид+Натрия ацетат+Натрия хлорид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5296", "medic_application_numbers": ["018422|072929|073466|074156|074256|074270|074360|074442|074452|074615|075034|077836|078012|078207|078599|079072|079239|202726|203266|204189|214603"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["C10AB04"], "medic_earliest_approval_date": "19810101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c2445d78-74a1-5936-a062-b1f92ee80ef6", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(C)c(OCCCC(C)(C)C(=O)O)c1", "name": "gemfibrozil", "provided_by": ["infores:medic"], "synonym": ["GEMFIBROZIL", "Gemfibrozil", "Gemfibrozil 300mg/900mg Capsule"], "xref": ["CHEMBL.COMPOUND:CHEMBL457", "DRUGBANK:DB01241", "DrugCentral:1285", "GTOPDB:3439", "PHAROS:AHSM1113H7C1", "PUBCHEM.COMPOUND:3463", "UNII:Q8X02027X3"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5312", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:f9a9a3ce-8e96-5d8f-9e07-3813741230bf", "medic_registration_numbers": ["MOH_RUSSIA:П N011325/01"], "medic_reliability": "MEDIUM", "name": "gentamicin sulfate", "provided_by": ["infores:medic"], "synonym": ["Gentamicin sulphate (eq to Gentamicin base) 2mg/ml Injection", "Septogal"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53188", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200318", "medic_mention_id": "MEDICNE:9bf30438-ae30-5399-8553-95169790572b", "medic_reliability": "MEDIUM", "name": "verapamil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Verapamil Hydrochloride Injection", "Verapamil Hydrochloride Tablets", "盐酸维拉帕米片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53248", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060818", "medic_mention_id": "MEDICNE:5ec4990d-3164-5f7a-a677-e6d24b928ee6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003479"], "medic_reliability": "MEDIUM", "medic_smiles": "C=CN1CCCC1=O", "name": "poly(vinylpyrrolidone)", "provided_by": ["infores:medic"], "synonym": ["Povidone", "Повидон"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:53278", "medic_stub": true, "name": "poly(styrene-4-sulfonic acid)", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:53289", "medic_application_numbers": ["206439|208237|208328|208672|216901"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19961125", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d6654a9e-e77d-5eb8-adb2-adb52262e34e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000228"], "medic_reliability": "HIGH", "name": "donepezil", "provided_by": ["infores:medic"], "synonym": ["DONEPEZIL", "DONEPEZIL HYDROCHLORIDE", "DONEPEZIL HYDROCHLORIDE; MEMANTINE HYDROCHLORIDE", "Donepezil", "Donepezil + Memantine", "Donepezil Sustained Release Tablet 23mg (Modified Dosage Form)"], "xref": ["CHEMBL.COMPOUND:CHEMBL502,CHEMBL355160,CHEMBL1678,CHEMBL2337271", "DRUGBANK:DB00843", "DrugCentral:946", "PHAROS:32ZAJ8M5AMJT", "PUBCHEM.COMPOUND:3152,10178169,5741,11697764", "UNII:8SSC91326P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53311", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070807", "medic_mention_id": "MEDICNE:bd8a9bff-1f06-5800-a994-0be8f6ff585e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006168"], "medic_reliability": "MEDIUM", "name": "sodium alginate", "provided_by": ["infores:medic"], "synonym": ["Sodium alginate", "Sodium alginate + Potassium bicarbonate", "Натрия алгинат"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:53424", "medic_stub": true, "name": "polysorbate 20", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53488", "medic_mention_id": "MEDICNE:1192f248-1ef0-5b0a-9373-644666c34174", "medic_reliability": "EXCLUDED", "name": "(7Z,10Z,13Z,16Z,19Z)-docosapentaenoic acid", "provided_by": ["infores:medic"], "synonym": ["Docosapentaenoic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53509", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20060406", "medic_mention_id": "MEDICNE:2e38a424-996b-5d53-a5cc-de299f3410c2", "medic_reliability": "MEDIUM", "name": "erlotinib hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Erlotinib HCl Tablet 150 mg (Additional Indication)", "Erlotinib Hydrochloride Tablets", "盐酸厄洛替尼片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53579", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["R05DA08"], "medic_earliest_approval_date": "20070706", "medic_mention_id": "MEDICNE:f383d801-7785-53f4-bb25-cb3b896c1545", "medic_reliability": "LOW", "medic_smiles": "CN1CC[C@]23c4c5ccc(OCCN6CCOCC6)c4O[C@H]2[C@@H](O)C=C[C@H]3[C@H]1C5", "name": "pholcodine", "provided_by": ["infores:medic"], "synonym": ["Pholcodiene Syrup (4mg/5ml)."]}
{"category": ["biolink:Drug"], "id": "CHEBI:53691", "medic_application_numbers": ["009561|011386|087075|087725"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AA01"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8ee3ae66-a704-5d2b-8437-ad1099e17aa8", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1c(I)c(NC(C)=O)c(I)c(C(=O)[O-])c1I.[Na+]", "name": "amidotrizoic acid", "provided_by": ["infores:medic"], "synonym": ["DIATRIZOATE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53692", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080610", "medic_mention_id": "MEDICNE:7fe551d7-9b81-520e-b392-2f40e848456d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002096"], "medic_reliability": "LOW", "name": "sodium amidotrizoate", "provided_by": ["infores:medic"], "synonym": ["Sodium amidotrizolate", "Натрия амидотризоат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53727", "medic_application_numbers": ["016000"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["J01ED04"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0b722c56-8c6e-5af7-a01d-f7a50ef9b3fb", "medic_reliability": "HIGH", "medic_smiles": "COc1cnc(NS(=O)(=O)c2ccc(N)cc2)nc1", "name": "sulfamethoxydiazine", "provided_by": ["infores:medic"], "synonym": ["SULFAMETER", "Sulphamethoxy Diazine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5373", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091209", "medic_mention_id": "MEDICNE:1d9ff7a3-f533-55d7-9411-fd43636b6b34", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006421)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "(S)-glaucine", "provided_by": ["infores:medic"], "synonym": ["Glaucine + Ephedrine", "Глауцин+Эфедрин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:53760", "medic_application_numbers": ["021476|091024|091103|091113|091124|091151|091153|091165|091166|091169|202929|203087|205504|206222|208451"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["N05CF04"], "medic_earliest_approval_date": "20041215", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9379b0ab-c970-5f6d-8fe9-dcb9bae55c06", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012251)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCN(C(=O)O[C@H]2c3nccnc3C(=O)N2c2ccc(Cl)cn2)CC1", "name": "eszopiclone", "provided_by": ["infores:medic"], "synonym": ["ESZOPICLONE", "Eszopiclone", "Eszopiclone Tablets", "Eszopiclone tablet (1mg/2mg/3mg)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1522", "DRUGBANK:DB00402", "DrugCentral:1068", "PHAROS:UFYLF5P3HGBB", "PUBCHEM.COMPOUND:969472", "UNII:UZX80K71OE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53766", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20100205", "medic_mention_id": "MEDICNE:7bf0afe5-2c4b-56d7-8520-059f5a711edf", "medic_registration_numbers": ["MOH_RUSSIA:П N016114/01"], "medic_reliability": "HIGH", "name": "acenocoumarol", "provided_by": ["infores:medic"], "synonym": ["Acenocoumarol", "Nicoumalone Tablets 0.5mg/5mg/6mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL397420", "DRUGBANK:DB01418", "DrugCentral:48", "GTOPDB:9015", "PHAROS:URR862S8LV3K", "PUBCHEM.COMPOUND:54676537", "UNII:I6WP63U32H"]}
{"category": ["biolink:Drug"], "id": "CHEBI:53776", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100818", "medic_mention_id": "MEDICNE:c9fddb55-f872-507b-b86b-7ad6ea9298aa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003310)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "alclometasone", "provided_by": ["infores:medic"], "synonym": ["Alclometasone"], "xref": ["DRUGBANK:DB00240"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5383", "medic_application_numbers": ["020496|076802|076875|076995|077091|077274|077280|077295|077366|077370|077486|077624|077911|078181|078952|091220|202112|202759"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A10BB12"], "medic_earliest_approval_date": "19951130", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d7157ebe-8bbd-5d78-85b5-a08ff1623452", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000029"], "medic_reliability": "HIGH", "medic_smiles": "CCC1=C(C)CN(C(=O)NCCc2ccc(S(=O)(=O)NC(=O)N[C@H]3CC[C@H](C)CC3)cc2)C1=O", "name": "glimepiride", "provided_by": ["infores:medic"], "synonym": ["GLIMEPIRIDE", "GLIMEPIRIDE; PIOGLITAZONE HYDROCHLORIDE", "GLIMEPIRIDE; ROSIGLITAZONE MALEATE", "Glimepiride", "Glimepiride + Metformin", "Glimepiride 1/2 mg + Metformin 500 mg + Atorvastatin 10 mg tablets", "Glimepiride 1mg/2mg. + Metformin SR 1000mg tablet (additional strength)", "Glimepiride 1mg/2mg/3mg/4mg Tablet", "Glimepiride Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1481", "DRUGBANK:DB00222", "DrugCentral:1300", "PHAROS:8BW94S1S38LD", "UNII:6KY687524K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5384", "medic_application_numbers": ["017783|020329|074223|074226|074305|074370|074378|074387|074438|074497|074542|074550|074619|075795|076159|076467|077820|202298|203499|204720|206928|214874|219159"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "usa"], "medic_atc_codes": ["A10BB07"], "medic_earliest_approval_date": "19710101", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bcbcf2ed-6012-58db-912b-e5a223e5c804", "medic_reliability": "HIGH", "medic_smiles": "Cc1cnc(C(=O)NCCc2ccc(S(=O)(=O)NC(=O)NC3CCCCC3)cc2)cn1", "name": "glipizide", "provided_by": ["infores:medic"], "synonym": ["GLIPIZIDE", "GLIPIZIDE; METFORMIN HYDROCHLORIDE", "Glipizide", "Glipizide Tablets", "Glydiazinamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1073", "DRUGBANK:DB01067", "DrugCentral:1301", "PHAROS:UZJ1JGLTGNPZ", "PUBCHEM.COMPOUND:3478", "UNII:X7WDT95N5C"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5391", "medic_application_numbers": ["020928|204468|208086|210134|212097|214457|218813"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3e8b1097-1fa0-50e7-933a-89a10420bd86", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010671)-(ГП-RU)"], "medic_reliability": "HIGH", "name": "glucagon", "provided_by": ["infores:medic"], "synonym": ["GLUCAGON", "GLUCAGON HYDROCHLORIDE", "Glucagon", "glucagon"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201618", "DRUGBANK:DB00040", "DrugCentral:2994", "PHAROS:AG3NUKQYD8WG", "UNII:76LA80IG2G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5417", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051230", "medic_mention_id": "MEDICNE:e9f21051-0d58-5aca-88bd-9bdfed04af4d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001838"], "medic_reliability": "HIGH", "name": "glucosamine", "provided_by": ["infores:medic"], "synonym": ["Glucosamine"], "xref": ["DRUGBANK:DB01296"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5439", "medic_application_numbers": ["009519|083234|083475|084362|085171|085571|085763|087297|089458|089459"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05CE01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:27b2cb88-e7a1-5aa7-a12f-78b21a20c1cf", "medic_reliability": "HIGH", "medic_smiles": "CCC1(c2ccccc2)CCC(=O)NC1=O", "name": "Glutethimide", "provided_by": ["infores:medic"], "synonym": ["GLUTETHIMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1102", "DrugCentral:1313", "PHAROS:GGTMPHDX4KLM", "PUBCHEM.COMPOUND:3487", "UNII:C8I4BVN78E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5441", "medic_application_numbers": ["017498|017532|020051|020055|074388|074591|074686|074792|075174|075890|075947|076257|077537|090937|203379|203581|206079|206483|206749"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["A10BB01"], "medic_earliest_approval_date": "19610101", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:201efda0-63df-5332-b4c9-0aca4326dda3", "medic_registration_numbers": ["MOH_RUSSIA:95/370/10"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(Cl)cc1C(=O)NCCc1ccc(S(=O)(=O)NC(=O)NC2CCCCC2)cc1", "name": "glyburide", "provided_by": ["infores:medic"], "synonym": ["GLYBURIDE", "GLYBURIDE; METFORMIN HYDROCHLORIDE", "Glibenclamide", "Glybenclamide", "Glybenclamide 5mg Tablet", "Glyburide", "glibenclamide"], "xref": ["CHEMBL.COMPOUND:CHEMBL472", "DRUGBANK:DB01016", "DrugCentral:1314", "GTOPDB:2414", "PHAROS:AAS44NBKFTWL", "PUBCHEM.COMPOUND:3488", "UNII:SX6K58TVWC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5520", "medic_application_numbers": ["018123"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820930", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:141d551f-17b7-54cf-8471-75d43001b618", "medic_reliability": "HIGH", "name": "gonadorelin", "provided_by": ["infores:medic"], "synonym": ["GONADORELIN ACETATE", "GONADORELIN HYDROCHLORIDE", "Gonadorelin acetate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1007", "DRUGBANK:DBSALT001155", "DrugCentral:2958", "PHAROS:PWDJRV7CRXLY", "PUBCHEM.COMPOUND:638793"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5523", "medic_application_numbers": ["019726|020578"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19891229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:28659be0-c5e8-5cb7-9830-fe38dabc726f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005011"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.CC(C)C[C@H](NC(=O)[C@@H](COC(C)(C)C)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1cnc[nH]1)NC(=O)[C@@H]1CCC(=O)N1)C(=O)N[C@@H](CCCNC(=N)N)C(=O)N1CCC[C@H]1C(=O)NNC(N)=O", "name": "Goserelin", "provided_by": ["infores:medic"], "synonym": ["GOSERELIN ACETATE", "Goserelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201247", "DRUGBANK:DB00014", "DrugCentral:1327", "PHAROS:MZ12Z8D3WF77", "PUBCHEM.COMPOUND:5311128", "UNII:0F65R8P09N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5530", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R02AB30"], "medic_earliest_approval_date": "20070815", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:441767b6-0127-57a8-8cb1-1129707e53cb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006901"], "medic_reliability": "MEDIUM", "name": "gramicidin S", "provided_by": ["infores:medic"], "synonym": ["Gramicidin C", "Грамицидин С"]}
{"category": ["biolink:Drug"], "id": "CHEBI:55326", "medic_application_numbers": ["009372"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bee4fa6c-fff7-5678-b4ba-ff18d7012c0d", "medic_reliability": "HIGH", "medic_smiles": "C[N+]1(CCCCC[N+]2(C)CCCC2)CCCC1.O=C([O-])[C@H](O)[C@@H](O)C(=O)O.O=C([O-])[C@H](O)[C@@H](O)C(=O)O", "name": "pentolinium tartrate", "provided_by": ["infores:medic"], "synonym": ["PENTOLINIUM TARTRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:55345", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240223", "medic_mention_id": "MEDICNE:e94aef95-f6f1-5046-8ca6-516cdf51869d", "medic_reliability": "MEDIUM", "name": "anagrelide hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Anagrelide Hydrochloride Capsules", "盐酸阿那格雷胶囊"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:55346", "medic_application_numbers": ["021632"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["J02AX06"], "medic_earliest_approval_date": "20060217", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2da49086-8307-57e6-b652-cae30b710b1a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001066"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCOc1ccc(-c2ccc(-c3ccc(C(=O)N[C@H]4C[C@@H](O)[C@@H](O)NC(=O)[C@@H]5[C@@H](O)[C@@H](C)CN5C(=O)[C@H]([C@@H](C)O)NC(=O)[C@H]([C@H](O)[C@@H](O)c5ccc(O)cc5)NC(=O)[C@@H]5C[C@@H](O)CN5C(=O)[C@H]([C@@H](C)O)NC4=O)cc3)cc2)cc1", "name": "anidulafungin", "provided_by": ["infores:medic"], "synonym": ["ANIDULAFUNGIN", "Anidulafungin", "anidulafungin"], "xref": ["DRUGBANK:DB00362", "UNII:9HLM53094I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:553473", "medic_application_numbers": ["050560|050589|063294"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J01DD07"], "medic_earliest_approval_date": "19830915", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6fb5e48c-ae7a-5235-9cc9-9839a2833337", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006699/10"], "medic_reliability": "HIGH", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)O)=CCS[C@H]12)c1csc(N)n1", "name": "ceftizoxime", "provided_by": ["infores:medic"], "synonym": ["CEFTIZOXIME SODIUM", "Ceftizoxime"], "xref": ["UNII:C43C467DPE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5537", "medic_application_numbers": ["022198|022445"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19931229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5a216f75-9fc2-5f4a-a05d-3c42e5fce369", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001058"], "medic_reliability": "HIGH", "medic_smiles": "CN1[C@@H]2CCC[C@H]1C[C@@H](NC(=O)c1nn(C)c3ccccc13)C2", "name": "granisetron", "provided_by": ["infores:medic"], "synonym": ["GRANISETRON", "GRANISETRON HYDROCHLORIDE", "Granisetron", "granisetron"], "xref": ["CHEMBL.COMPOUND:CHEMBL289469", "DRUGBANK:DB00889", "DrugCentral:1329", "PHAROS:JN6YSV9J359Y", "PUBCHEM.COMPOUND:3510", "UNII:WZG3J2MCOL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5538", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210421", "medic_mention_id": "MEDICNE:3ca93030-de3e-5e3a-a1e4-71671d0d164e", "medic_reliability": "MEDIUM", "name": "Granisetron hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Granisetron Hydrochloride Injection", "Granisetron Hydrochloride Tablets", "盐酸格拉司琼注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5543", "medic_application_numbers": ["020695"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971106", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fbf8b566-c533-5dbf-be03-efdce302ca4f", "medic_reliability": "HIGH", "name": "Grepafloxacin", "provided_by": ["infores:medic"], "synonym": ["GREPAFLOXACIN HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:554446", "medic_application_numbers": ["050446|061769|062720|062723|062724|062961"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["J01DB08"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8e4f7ec0-7aa3-5566-87e6-ca16d8c565aa", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC1=C(C(=O)O)N2C(=O)[C@@H](NC(=O)CSc3ccncc3)[C@H]2SC1", "name": "cephapirin", "provided_by": ["infores:medic"], "synonym": ["CEPHAPIRIN SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:55490", "medic_application_numbers": ["050571"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19871230", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:559fa8a1-c61b-5491-a35c-f5d5bdd2e0ae", "medic_reliability": "HIGH", "name": "cefmenoxime", "provided_by": ["infores:medic"], "synonym": ["CEFMENOXIME HYDROCHLORIDE", "Cefmenoxime Sodium for Injection"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:5551", "medic_application_numbers": ["022424|205474|208085"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["R05CA03"], "medic_earliest_approval_date": "20020712", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:faf8716c-35b7-5d2d-942d-6909113527d5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002796"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccccc1OCC(O)CO", "name": "Guaifenesin", "provided_by": ["infores:medic"], "synonym": ["Ambroxol + Guaifenesin + Levosalbutamol", "Ambroxol + Guaifenesin + Phenylephrine + Chlorphenamine", "Ambroxol + Guaifenesin + Salbutamol", "Bromhexine + Guaifenesin + Salbutamol", "Bromhexine + Guaifenesin + Salbutamol + [Levomenthol]", "Bromhexine + Guaifenesin + Salbutamol + [Racementol]", "Butamirate + Guaifenesin", "GUAIFENESIN", "GUAIFENESIN; HYDROCODONE BITARTRATE", "GUAIFENESIN; HYDROCODONE BITARTRATE; PSEUDOEPHEDRINE HYDROCHLORIDE", "GUAIFENESIN; PSEUDOEPHEDRINE HYDROCHLORIDE", "Guaifenesin", "Guaifenesin + Paracetamol + Phenylephrine", "Guaiphenasin Syrup 133mg/5ml", "Guaiphenesin ER Tablet (600mg)", "Guaiphenesin ER Tablet 1200mg"], "xref": ["DRUGBANK:DB00874", "UNII:495W7451VQ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5553", "medic_application_numbers": ["018587|074025|074149|074267|074517"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820907", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0714db98-71a4-59b4-b024-f51ae5f28729", "medic_reliability": "HIGH", "name": "Guanabenz", "provided_by": ["infores:medic"], "synonym": ["GUANABENZ ACETATE", "Guanabenz"], "xref": ["CHEMBL.COMPOUND:CHEMBL420", "DRUGBANK:DB00629", "DrugCentral:3952", "GTOPDB:5443", "PHAROS:DLJGCQBZ9NJB", "PUBCHEM.COMPOUND:5702063", "UNII:GGD30112WC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5555", "medic_application_numbers": ["018104"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19821229", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:68460238-863e-5881-8ddf-252a71cb008c", "medic_reliability": "HIGH", "name": "guanadrel", "provided_by": ["infores:medic"], "synonym": ["GUANADREL SULFATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1037", "DrugCentral:1339", "PHAROS:8V83VFJRWXTM", "PUBCHEM.COMPOUND:38521", "UNII:765C9332T4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5557", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C02CC02", "S01EX01"], "medic_earliest_approval_date": "19610101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:ac32a0ee-607f-5046-ae1b-f695690bb131", "medic_reliability": "MEDIUM", "medic_smiles": "N=C(N)NCCN1CCCCCCC1", "name": "guanethidine", "provided_by": ["infores:medic"], "synonym": ["Guanethidine (as sulphate) 10/25mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL765", "DrugCentral:1342", "PHAROS:XSVDCUPXXRUS", "PUBCHEM.COMPOUND:3518", "UNII:ZTI6C33Q2Q"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5558", "medic_application_numbers": ["019032|022037|074145|074673|074762|074796|075109|200881|201382|201408|202238|202568|202578|205430|205689|213428|214689|216399|216762|216828|217269|217293|217638|218326|219033|219689"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19861027", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:533a84ae-6316-5db9-b46d-456bd5741525", "medic_reliability": "HIGH", "medic_smiles": "Cl.N=C(N)NC(=O)Cc1c(Cl)cccc1Cl", "name": "Guanfacine", "provided_by": ["infores:medic"], "synonym": ["GUANFACINE HYDROCHLORIDE", "Guanfacine"], "xref": ["CHEMBL.COMPOUND:CHEMBL862", "DRUGBANK:DB01018", "DrugCentral:1343", "PHAROS:TFPFTJNHL3BH", "PUBCHEM.COMPOUND:3519", "UNII:30OMY4G3MK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5559", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250220", "medic_mention_id": "MEDICNE:1eec6482-19d5-582e-a751-01976a0092af", "medic_reliability": "MEDIUM", "name": "Guanfacine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Guanfacine Hydrochloride Extended-Release Tablets", "盐酸胍法辛缓释片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5603", "medic_application_numbers": ["017736"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05BA13"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:deda473a-c411-5703-b152-4feb3504d764", "medic_reliability": "HIGH", "medic_smiles": "O=C1CN=C(c2ccccc2)c2cc(Cl)ccc2N1CC(F)(F)F", "name": "Halazepam", "provided_by": ["infores:medic"], "synonym": ["HALAZEPAM"], "xref": ["CHEMBL.COMPOUND:CHEMBL970", "DrugCentral:1348", "PHAROS:Z6YKBFZZTK15", "PUBCHEM.COMPOUND:31640", "UNII:320YC168LF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:560555", "medic_application_numbers": ["021222"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "20010829", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9c60f970-4036-59ec-b9ad-f4a908eeb784", "medic_reliability": "HIGH", "name": "cefditoren pivoxil", "provided_by": ["infores:medic"], "synonym": ["CEFDITOREN PIVOXIL", "Cefditoren pivoxil 400mg tablets (Additional Strength)", "Cefditorene pivoxil dispersible tablet (30mg/50mg) (New Dosage form for children)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5612", "medic_application_numbers": ["020250"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19920724", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:31cf199e-487e-52fa-bc4d-ca643b07dd88", "medic_reliability": "HIGH", "name": "Halofantrine", "provided_by": ["infores:medic"], "synonym": ["HALOFANTRINE HYDROCHLORIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5613", "medic_application_numbers": ["015922|015923|070318|070710|070713|070714|070726|070744|070800|070801|070802|070864|071015|071187|071617|072045|072516|072517|073037|073364|074536|075689|075858|076035|076464|076774|076791|076828|078347|091637|200742|204849|210356|218371"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0d69c4ae-d215-502e-b27e-f98880f86e67", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002603"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCC(=O)OC1(c2ccc(Cl)cc2)CCN(CCCC(=O)c2ccc(F)cc2)CC1", "name": "haloperidol", "provided_by": ["infores:medic"], "synonym": ["HALOPERIDOL", "HALOPERIDOL LACTATE", "Haloperidol", "Haloperidol (Bulk)", "Haloperidol 0.25mg Tablet", "Haloperidol Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL54", "DRUGBANK:DB00502", "DrugCentral:1353", "GTOPDB:86", "PHAROS:GKRULT6FAR97", "PUBCHEM.COMPOUND:3559", "UNII:J6292F8L3D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5614", "medic_application_numbers": ["016942|016943"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D01AE11"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5c43d5e1-2955-5d73-8a9a-3f9b8ea727fe", "medic_reliability": "HIGH", "medic_smiles": "Clc1cc(Cl)c(OCC#CI)cc1Cl", "name": "Haloprogin", "provided_by": ["infores:medic"], "synonym": ["HALOPROGIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL1289", "DrugCentral:1355", "PHAROS:T9JBBUY3F78S", "PUBCHEM.COMPOUND:3561", "UNII:AIU7053OWL"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5782", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240122", "medic_mention_id": "MEDICNE:73eff466-c857-511b-879e-c3b38082ff13", "medic_reliability": "MEDIUM", "name": "Hydrocortisone Sodium Succinate", "provided_by": ["infores:medic"], "synonym": ["Hydrocortisone Sodium Succinate for Injection", "注射用氢化可的松琥珀酸钠"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:5791", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210720", "medic_mention_id": "MEDICNE:68d8b995-54eb-5f5c-985d-7f2cb3eeeac3", "medic_reliability": "MEDIUM", "name": "hydromorphone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Hydromorphone Hydrochloride Extended-Release Tablets", "Hydromorphone Hydrochloride Injection", "盐酸氢吗啡酮注射液"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:584020", "medic_application_numbers": ["012516"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7af57263-7295-5364-a8be-349e533e073f", "medic_reliability": "HIGH", "name": "methysergide", "provided_by": ["infores:medic"], "synonym": ["METHYSERGIDE MALEATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1065,CHEMBL1200938", "DrugCentral:1775", "GTOPDB:134", "PHAROS:3M5UQBRT98CD", "PUBCHEM.COMPOUND:9681,5281073", "UNII:XZA9HY6Z98"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5847", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20100312", "medic_mention_id": "MEDICNE:77b2064d-9e38-53f5-8231-179a242336ae", "medic_registration_numbers": ["MOH_RUSSIA:П N013284/01"], "medic_reliability": "HIGH", "name": "ICI D1694", "provided_by": ["infores:medic"], "synonym": ["Raltitrexed", "Raltitrexed for Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL225071", "DRUGBANK:DB00293", "DrugCentral:2353", "GTOPDB:7403", "PHAROS:MF6Y2T6JTHDC", "PUBCHEM.COMPOUND:104758,135400182", "UNII:FCB9EGG971"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:5855", "medic_application_numbers": ["215320"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "india", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:146671bb-5aa7-5a54-9467-ec08edd03159", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000125"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)Cc1ccc(C(C)C(=O)O)cc1.NCCCC[C@H](N)C(=O)O", "name": "ibuprofen", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; IBUPROFEN SODIUM", "IBUPROFEN SODIUM", "Ibuprofen", "Ibuprofen + Caffeine", "Ibuprofen + Chlorzoxazone", "Ibuprofen + Codeine", "Ibuprofen + Paracetamol", "Ibuprofen 100mg/5ml Suspension", "Ibuprofen 200 mg Tablet", "Ibuprofen 200mg Tablet", "Ibuprofen 5% w/w & 10% w/w Cream and Ibuprofen 10% Gel", "Ibuprofen Extended-Release Capsules", "Ibuprofen Granules", "Ibuprofen Sodium Chloride Injection", "Ibuprofen Suspension", "Ibuprofen Tablets", "ibuprofen"], "xref": ["CHEMBL.COMPOUND:CHEMBL427526,CHEMBL521", "DRUGBANK:DB01050", "DrugCentral:1407", "GTOPDB:2713", "PHAROS:JSNCQPWTHATF", "PUBCHEM.COMPOUND:114864,3672", "UNII:WK2XYI10QM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5856", "medic_application_numbers": ["020491|090240|090643|090924|204146"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19951228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6cb24f05-77ba-5c9d-bd0f-9ae83f662aeb", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCN(CC)CCCC(O)c1ccc(NS(C)(=O)=O)cc1.CCCCCCCN(CC)CCCC(O)c1ccc(NS(C)(=O)=O)cc1.O=C(O)/C=C/C(=O)O", "name": "Ibutilide", "provided_by": ["infores:medic"], "synonym": ["IBUTILIDE FUMARATE", "Ibutilide"], "xref": ["DRUGBANK:DB00308", "UNII:2436VX1U9B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5857", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:490f053e-2912-5dc4-adb0-b57467803eb8", "medic_reliability": "MEDIUM", "name": "Ibutilide fumarate", "provided_by": ["infores:medic"], "synonym": ["Ibutilide Fumarate Injection"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:585948", "medic_application_numbers": ["019834|075896|078855|090365|091200|091484|200815|201964|202170|203032|203417|203983|204800|210847"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["C08CA02"], "medic_earliest_approval_date": "19910101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2889b20e-5a03-55f3-bd5a-8a06d02b4525", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002191)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)C1=C(C)NC(C)=C(C(=O)OC)C1c1cccc(Cl)c1Cl", "name": "felodipine", "provided_by": ["infores:medic"], "synonym": ["FELODIPINE", "Felodipine", "Felodipine 5mg/10mg ER Film Coated Tablet", "Felodipine Extended-Release Tablets", "Felodipine Tablets", "Metoprolol + Felodipine"], "xref": ["CHEMBL.COMPOUND:CHEMBL428768", "DRUGBANK:DB01023", "DrugCentral:1142", "GTOPDB:4190", "PHAROS:ZNJM1AZL7TDK", "PUBCHEM.COMPOUND:941699,3333", "UNII:OL961R6O2C"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5864", "medic_application_numbers": ["019763|076078|076619|076657|090181|201689"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01AA06"], "medic_earliest_approval_date": "19710101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3969845b-7da2-54b2-94ea-5c26019b3896", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005681"], "medic_reliability": "HIGH", "medic_smiles": "O=P1(NCCCl)OCCCN1CCCl", "name": "ifosfamide", "provided_by": ["infores:medic"], "synonym": ["IFOSFAMIDE", "IFOSFAMIDE; MESNA", "Icophosphamide for Injection", "Ifosfamide"], "xref": ["DRUGBANK:DB01181", "UNII:UM20QQM95Y"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5893", "medic_application_numbers": ["018538|074299|074461|074498|074585|074594|074665|074722|075105|075201"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["C03BA11"], "medic_earliest_approval_date": "19830706", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2dd5c420-bae9-5285-8f9e-6bef70101e29", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000115"], "medic_reliability": "HIGH", "medic_smiles": "CC1Cc2ccccc2N1NC(=O)c1ccc(Cl)c(S(N)(=O)=O)c1", "name": "indapamide", "provided_by": ["infores:medic"], "synonym": ["INDAPAMIDE", "Indapamide", "Indapamide + Enalapril", "Indapamide + Lisinopril", "Indapamide + Ramipril", "Indapamide + Telmisartan", "Indapamide Capsules", "Indapamide Extended-Release Tablets", "Indapamide Tablets", "Indapamide and Enalapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL406", "DRUGBANK:DB00808", "DrugCentral:1433", "PHAROS:A752MF4ZP2H1", "PUBCHEM.COMPOUND:3702", "UNII:F089I0511L"]}
{"category": ["biolink:Drug"], "id": "CHEBI:58974", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01CA07"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:0fd5e9b7-3c90-5c9d-a315-86e75929e2ec", "medic_reliability": "MEDIUM", "medic_smiles": "CC1(C)S[C@@H]2[C@H](NC(=O)[C@H](N)C3=CCC=CC3)C(=O)N2[C@H]1C(=O)O", "name": "epicillin", "provided_by": ["infores:medic"], "synonym": ["Epicillin (6-aminopenicillanic acid) 250mg/500mg Capsule", "Epicillin 125mg/5ml & 250mg/5ml Oral Suspension", "Epicillin 250mg & 500mg Injection", "Epicillin 250mg/500mg Capsule"]}
{"category": ["biolink:Drug"], "id": "CHEBI:58987", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20000219", "medic_mention_id": "MEDICNE:3155c123-58f4-50a9-88ee-9b57293d8c94", "medic_reliability": "MEDIUM", "name": "sildenafil citrate", "provided_by": ["infores:medic"], "synonym": ["Sildenafil Citrate 20mg Tablet", "Sildenafil Citrate Injection 0.8mg/ml", "Sildenafil Citrate Orally Disintegrating Strips. 25mg/50mg (Additional Dosage Form)", "Sildenafil Citrate Orally Disintegrating Tablets", "Sildenafil Citrate Tablets", "枸橼酸西地那非片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59033", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111018", "medic_mention_id": "MEDICNE:462bac6f-7d5e-56e6-9348-3db85ffffee8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001021"], "medic_reliability": "LOW", "name": "metamizole sodium", "provided_by": ["infores:medic"], "synonym": ["Novalgine", "Новалгин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59040", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01AA04"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:1db3aaee-172a-5edf-b90d-8d7df30c83a7", "medic_reliability": "HIGH", "medic_smiles": "CN(C)[C@@H]1C(O)=C(C(=O)NCNCCCC[C@H](N)C(=O)O)C(=O)[C@@]2(O)C(O)=C3C(=O)c4c(O)cccc4[C@@](C)(O)[C@H]3C[C@@H]12", "name": "lymecycline", "provided_by": ["infores:medic"], "synonym": ["Lymecycline", "Lymecycline (eq. To Tetracycline) 300mg Capsule"], "xref": ["DRUGBANK:DB00256"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59116", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:439cfc88-1529-54db-8c6d-35d9125026ca", "medic_reliability": "HIGH", "name": "metofenazate", "provided_by": ["infores:medic"], "synonym": ["Methophenazine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59167", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19990622", "medic_mention_id": "MEDICNE:1319e324-1557-533f-82c0-31cd86fd75f2", "medic_reliability": "MEDIUM", "medic_smiles": "CN(C)C(=O)Oc1cc(OC(=O)N(C)C)cc(C(O)CNC(C)(C)C)c1.Cl", "name": "bambuterol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bambuterol Hcl 1mg/ml Oral Suspension", "Bambuterol Hydrochloride Tablets", "盐酸班布特罗片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59170", "medic_application_numbers": ["009344"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:44a5f990-cf01-540b-8e5b-9e7fdd27bf76", "medic_reliability": "HIGH", "name": "betazole", "provided_by": ["infores:medic"], "synonym": ["BETAZOLE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201323", "DrugCentral:357", "PHAROS:HPVCKCWNWTCD", "PUBCHEM.COMPOUND:7741", "UNII:1C065P542O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59173", "medic_application_numbers": ["020873|090189|090811|090816|091602|201577|202471|204876|205962|206551|208374|210031|211215|213078"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "20001215", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:862f4507-2f7e-52c1-962a-1f9552e62844", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005816"], "medic_reliability": "HIGH", "name": "bivalirudin", "provided_by": ["infores:medic"], "synonym": ["BIVALIRUDIN", "Bivalirudin", "Bivalirudin for Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103749", "DRUGBANK:DB00006", "DrugCentral:385", "PHAROS:1TU2X6BK35SB", "PUBCHEM.COMPOUND:101041682", "UNII:TN9BEX005G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59204", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["H01BB03"], "medic_earliest_approval_date": "20120112", "medic_mention_id": "MEDICNE:440017ea-11d4-584f-a03e-4e491777f210", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001424"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@H](C)[C@@H]1NC(=O)[C@H](Cc2ccc(OC)cc2)NC(=O)CCCSC[C@@H](C(=O)N2CCC[C@H]2C(=O)N[C@@H](CC(C)C)C(=O)NCC(N)=O)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCC(N)=O)NC1=O", "name": "carbetocin", "provided_by": ["infores:medic"], "synonym": ["Carbetocin", "Carbetocin bulk and Carbetocin injection 100 mcg/ml"], "xref": ["CHEMBL.COMPOUND:CHEMBL3301668", "DRUGBANK:DB01282", "DrugCentral:495", "PHAROS:HJ9V3GW612Z1", "PUBCHEM.COMPOUND:16681432", "UNII:88TWF8015Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59213", "medic_application_numbers": ["050633"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19890131", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6c025cf4-d9eb-57be-861e-0c8315ed25d8", "medic_reliability": "HIGH", "name": "cefpiramide", "provided_by": ["infores:medic"], "synonym": ["CEFPIRAMIDE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59223", "medic_application_numbers": ["018296"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cf97f37f-a47b-5cd1-8b1e-ba0d552c9d5c", "medic_reliability": "HIGH", "medic_smiles": "CCNCC.CSCC[C@H](NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)CNC(=O)[C@@H](NC(=O)[C@H](Cc1ccc(OS(=O)(=O)O)cc1)NC(=O)[C@H](CC(=O)O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H]1CCC(=O)N1)[C@@H](C)O)C(=O)N[C@@H](CC(=O)O)C(=O)N[C@@H](Cc1ccccc1)C(N)=O", "name": "ceruletide diethylamine", "provided_by": ["infores:medic"], "synonym": ["CERULETIDE DIETHYLAMINE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59224", "medic_application_numbers": ["021197|214540|215737|217776|218061|218150"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["H01CC02"], "medic_earliest_approval_date": "19990412", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:43fc7997-d599-550a-aa4d-dcc1719b496a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008830"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)N[C@H](Cc1ccc2ccccc2c1)C(=O)N[C@H](Cc1ccc(Cl)cc1)C(=O)N[C@H](Cc1cccnc1)C(=O)N[C@@H](CO)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N[C@H](CCCNC(N)=O)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCNC(=N)N)C(=O)N1CCC[C@H]1C(=O)N[C@H](C)C(N)=O", "name": "cetrorelix", "provided_by": ["infores:medic"], "synonym": ["CETRORELIX ACETATE", "Cetrorelix", "cetrorelix"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200490", "DRUGBANK:DB00050", "DrugCentral:583", "PHAROS:7V35GFSJTX7T", "PUBCHEM.COMPOUND:25074887", "UNII:OON1HFZ4BA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59254", "medic_application_numbers": ["021114"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000223", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:043a1c48-883a-527f-ace3-bf7521449963", "medic_reliability": "HIGH", "medic_smiles": "CC(C)NC[C@H](O)COc1ccc(CCOCC2CC2)cc1", "name": "(S)-betaxolol", "provided_by": ["infores:medic"], "synonym": ["LEVOBETAXOLOL HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201274", "DrugCentral:4752", "GTOPDB:8035", "PHAROS:WDJJ9SF1U16U", "PUBCHEM.COMPOUND:60657", "UNII:75O9XHA4TU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59269", "medic_application_numbers": ["011814"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:450f29b6-833a-5157-86cd-4b128a03363b", "medic_reliability": "HIGH", "medic_smiles": "CN(C)CC[C@@H](c1ccc(Br)cc1)c1ccccn1.O=C(O)/C=C\\C(=O)O", "name": "dexbrompheniramine", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; DEXBROMPHENIRAMINE MALEATE; PSEUDOEPHEDRINE SULFATE", "DEXBROMPHENIRAMINE MALEATE", "DEXBROMPHENIRAMINE MALEATE; PSEUDOEPHEDRINE SULFATE", "Dexbrompheniramine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201287", "DRUGBANK:DB00405", "DrugCentral:830", "PHAROS:24AH7CACD7SV", "PUBCHEM.COMPOUND:16960", "UNII:75T64B71RP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59297", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19740725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5e8aafb6-84ed-5fe5-9fda-c85a1719945e", "medic_reliability": "HIGH", "name": "benzylpenicilloyl polylysine", "provided_by": ["infores:medic"], "synonym": ["benzylpenicilloyl polylysine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5931", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_atc_codes": ["A10AB05", "A10AD05"], "medic_earliest_approval_date": "20021007", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:5f7b332b-7a2c-5188-aef8-3ae85181a230", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001565"], "medic_reliability": "MEDIUM", "name": "insulin (human)", "provided_by": ["infores:medic"], "synonym": ["Human insulin", "human insulin (rDNA)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201631", "DrugCentral:5003"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59343", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01DD16"], "medic_earliest_approval_date": "20120112", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:b0abe5b2-7d58-515b-b403-38bbfdaf8e5e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001420"], "medic_reliability": "MEDIUM", "medic_smiles": "CO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)O)=C(/C=C\\c3scnc3C)CS[C@H]12)c1csc(N)n1", "name": "cefditoren", "provided_by": ["infores:medic"], "synonym": ["Cefditoren", "Цефдиторен"], "xref": ["UNII:81QS09V3YW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5937", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060714", "medic_mention_id": "MEDICNE:2beff729-aa68-5948-9ffa-965be240e0d6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001503"], "medic_reliability": "MEDIUM", "name": "Interferon alfa-2a", "provided_by": ["infores:medic"], "synonym": ["Interferon alpha-2", "Interferon alpha-2a", "Интерферон альфа-2a"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5938", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["L03AB08"], "medic_earliest_approval_date": "20090907", "medic_mention_id": "MEDICNE:269d7154-2fb3-5b33-9d4d-2167594f743f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000869"], "medic_reliability": "MEDIUM", "name": "Interferon beta-1b", "provided_by": ["infores:medic"], "synonym": ["Interferon beta-1b", "Интерферон бета-1b"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201563", "DrugCentral:5140", "UNII:TTD90R31WZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5939", "medic_mention_id": "MEDICNE:77aa0afa-fb91-544a-a7dd-dbc7ff2e06d7", "medic_reliability": "EXCLUDED", "name": "Interferon gamma-1b", "provided_by": ["infores:medic"], "synonym": ["Interferon gamma"], "xref": ["DRUGBANK:DB15753", "UNII:21K6M2I7AG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59477", "medic_application_numbers": ["017594"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e0568ec5-42b0-5be3-88c2-04a4d7cba673", "medic_reliability": "HIGH", "medic_smiles": "Oc1c(Cl)cc(Cl)c2cccnc12", "name": "chloroxine", "provided_by": ["infores:medic"], "synonym": ["CHLOROXINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5950", "medic_mention_id": "MEDICNE:6be116df-7ec4-5574-9049-35c81257877d", "medic_reliability": "EXCLUDED", "name": "iodoquinol", "provided_by": ["infores:medic"], "synonym": ["Iodoquinol"], "xref": ["DRUGBANK:DB09115"]}
{"category": ["biolink:Drug"], "id": "CHEBI:5951", "medic_application_numbers": ["008032"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V08AC06"], "medic_earliest_approval_date": "19820101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9461aa04-e352-548f-87d7-d7fcf3df2c95", "medic_reliability": "HIGH", "medic_smiles": "CCC(Cc1c(I)cc(I)c(N)c1I)C(=O)O", "name": "Iopanoic acid", "provided_by": ["infores:medic"], "synonym": ["IOPANOIC ACID"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5956", "medic_application_numbers": ["019085|020228|020393|020394|021527|074755|075111|075313|075441|075507|075552|075553|075562|075693|075835|075867|076025|076103|076155|076156|076291|076598|076664|077072|206543|207903|215104|215105|217886|217912|217953|219221|219222"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19861229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8350de4d-5ae6-55fe-844e-8c27befbacbd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002166"], "medic_reliability": "HIGH", "name": "ipratropium", "provided_by": ["infores:medic"], "synonym": ["IPRATROPIUM BROMIDE", "Ipratropium", "Ipratropium Bromide + Fenoterol", "Ipratropium Bromide + Salbutamol", "Ipratropium bromide"], "xref": ["DRUGBANK:DB00332", "GTOPDB:325", "PHAROS:9X6F9D6B7BRC", "PUBCHEM.COMPOUND:3746", "UNII:GR88G0I6UL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59560", "medic_application_numbers": ["022181|205065|207200|207207|207685|209452|210027|215420|215534|215798|216432|216797|218645|218797|219511"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["A16AX07"], "medic_earliest_approval_date": "20071213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c7699896-3ccd-59d1-9f3f-f17d9b13eaae", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002533"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](O)[C@H](O)[C@H]1CNc2nc(N)[nH]c(=O)c2N1", "name": "sapropterin", "provided_by": ["infores:medic"], "synonym": ["SAPROPTERIN DIHYDROCHLORIDE", "SAPROPTERIN HYDROCHLORIDE", "Sapropterin", "Saproterin", "sapropterin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201774", "DRUGBANK:DB00360", "DrugCentral:2612", "GTOPDB:5276", "PHAROS:ZRRNNFQ5JNJ4", "PUBCHEM.COMPOUND:135398654,44257", "UNII:EGX657432I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59582", "medic_mention_id": "MEDICNE:f816d649-e636-58b0-8c4b-1f043888af75", "medic_reliability": "EXCLUDED", "name": "clocortolone", "provided_by": ["infores:medic"], "synonym": ["Clocortolone"], "xref": ["DRUGBANK:DB00838", "UNII:N8ZUB7XE0H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59583", "medic_application_numbers": ["017765|206370"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9ba42ecf-57e0-5373-9910-ec72f7c0a116", "medic_reliability": "HIGH", "name": "clocortolone pivalate", "provided_by": ["infores:medic"], "synonym": ["CLOCORTOLONE PIVALATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200975", "DrugCentral:4606", "PHAROS:FC4YRNM8TLNP", "PUBCHEM.COMPOUND:5282493", "UNII:QBL8IZH14X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:5959", "medic_application_numbers": ["020757|077159|077205|077466|079213|090201|090720|091236|200461|200832|201531|202254|202910|203020|203071|203081|203161|203534|203685|204740|204774|206194|211056|219539"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["C09CA04"], "medic_earliest_approval_date": "19970826", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:48bff0c7-54b7-54b4-9ff8-22ec5e206e5f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000554"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC1=NC2(CCCC2)C(=O)N1Cc1ccc(-c2ccccc2-c2nnn[nH]2)cc1", "name": "irbesartan", "provided_by": ["infores:medic"], "synonym": ["IRBESARTAN", "Irbesartan", "Irbesartan Tablets", "Irbesartan and Amlodipine Tablets (I)", "Irbesartan and Amlodipine Tablets (III)", "Irbesartan and Hydrochlorothiazide Tablets", "irbesartan", "irbesartan;hydrochlorothiazide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1513", "DRUGBANK:DB01029", "DrugCentral:1481", "GTOPDB:6908,589", "PHAROS:24QDP6NHFGA9", "PUBCHEM.COMPOUND:3749", "UNII:J0E2756Z7N"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59594", "medic_application_numbers": ["021141|021176|022362|091600|200830|201354|202178|202190|203480|204893|206036|207765|208670|209038|209946|210316|210889|210895|212050|212602|212886|213456"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20000526", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c4b294f8-e72c-560e-901d-b1cdd5beb0f5", "medic_reliability": "HIGH", "name": "colesevelam", "provided_by": ["infores:medic"], "synonym": ["COLESEVELAM HYDROCHLORIDE", "Colesevelam", "colesevelam"], "xref": ["DRUGBANK:DB00930", "UNII:1XU104G55N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59640", "medic_mention_id": "MEDICNE:ad0f98e1-9533-59c6-8c41-9a9eccd24447", "medic_reliability": "EXCLUDED", "name": "N-acetylglucosamine", "provided_by": ["infores:medic"], "synonym": ["N-acetylglucosamine"], "xref": ["DRUGBANK:DB00141"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59662", "medic_application_numbers": ["050108|064216|065177|065364|201365|202359|205356"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b959185-7ce2-57eb-9255-02442d9c04f9", "medic_registration_numbers": ["MOH_RUSSIA:П N014748/01"], "medic_reliability": "HIGH", "name": "colistimethate", "provided_by": ["infores:medic"], "synonym": ["COLISTIMETHATE SODIUM", "Colistimethate Sodium + Rolitetracycline + Chloramphenicol", "Colistimethate Sodium + Tetracycline + Chloramphenicol", "colistimethate sodium"], "xref": ["UNII:DL2R53P963"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59692", "medic_application_numbers": ["008951"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4c3f1753-9494-54f8-9ba4-0bc9a6fd2af3", "medic_reliability": "HIGH", "name": "cycrimine", "provided_by": ["infores:medic"], "synonym": ["CYCRIMINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201227", "DrugCentral:763", "PHAROS:TMW9JGRN2DK7", "PUBCHEM.COMPOUND:2911", "UNII:543567RFQQ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59695", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:e92ea8b8-b232-5796-ae8f-2631603ece06", "medic_reliability": "MEDIUM", "name": "cyproheptadine hydrochloride (anhydrous)", "provided_by": ["infores:medic"], "synonym": ["Cyproheptadine Hcl 4mg Tablet", "Cyproheptadine Hcl. (4mg) Tablet & (2mg/ml) Syrup"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59704", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "20230308", "medic_mention_id": "MEDICNE:2f8ef316-aedd-57ef-b0b9-ce10b4c75935", "medic_reliability": "HIGH", "name": "sexipyridine", "provided_by": ["infores:medic"], "synonym": ["18"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59729", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:28139d52-6106-5696-832a-7871d7a7d9aa", "medic_reliability": "MEDIUM", "medic_smiles": "CCNC(C)Cc1cccc(C(F)(F)F)c1.Cl", "name": "fenfluramine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Fenfluramine Hcl 20mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59730", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19920622", "medic_mention_id": "MEDICNE:5e5699f0-a897-5aca-8b8b-2e67471df7e0", "medic_reliability": "MEDIUM", "name": "(S)-fenfluramine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dexfenfluramine Hcl 15mg Capsule"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59732", "medic_application_numbers": ["017506"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0e9be0be-3ce2-59a9-b440-b15a5cdc1e38", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000801)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CNC[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO", "name": "N-methylglucamine", "provided_by": ["infores:medic"], "synonym": ["CALCIUM; MEGLUMINE; METRIZOIC ACID", "Meglumin", "Meglumine sodium succinate", "Меглюмина натрия сукцинат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:59750", "medic_application_numbers": ["017741|017994|019259|019260|020205|075187|075331|075374|075508|076263|206572|207440|210753"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D07AC10"], "medic_earliest_approval_date": "19820101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e0780ef8-a7ef-51f1-8924-a7b8369f9698", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC(=O)[C@@]1(OC(C)=O)[C@@H](C)C[C@H]2[C@@H]3C[C@H](F)C4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]21C", "name": "diflorasone", "provided_by": ["infores:medic"], "synonym": ["DIFLORASONE DIACETATE", "Diflorasone"], "xref": ["DRUGBANK:DB00223", "UNII:T2DHJ9645W"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:59771", "medic_stub": true, "name": "8-chlorotheophylline", "provided_by": ["infores:medic"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:59773", "medic_application_numbers": ["016990|018155|018596|018887|019188|020463|020479|074209|074443|074706|074800|075067|075088|075175|075271|075282|075333|075346|075427|075437|075585|075615|075702|076469|077976|090954|202583|202745|209264|209453|213658"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A07EB01", "D11AH03", "R01AC01", "R01AC51", "R03BC01", "S01GX01", "S01GX51"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:aa12fae9-c9fa-5c2a-a695-09b5df847bb9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001158"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1cc(=O)c2c(OCC(O)COc3cccc4oc(C(=O)O)cc(=O)c34)cccc2o1", "name": "cromoglycic acid", "provided_by": ["infores:medic"], "synonym": ["CROMOLYN SODIUM", "Cromoglicic acid", "Cromolyn"], "xref": ["CHEMBL.COMPOUND:CHEMBL428880", "PHAROS:3JSV1FQABGPF", "PUBCHEM.COMPOUND:2882", "UNII:Y0TK0FS77W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59782", "medic_application_numbers": ["008114"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1b2a0462-b3cc-5352-935b-c8c8140e39c9", "medic_reliability": "HIGH", "name": "diphemanil methylsulfate", "provided_by": ["infores:medic"], "synonym": ["DIPHEMANIL METHYLSULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59784", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:55cb6d0e-b1f4-5166-9dac-acec1fc703f2", "medic_reliability": "MEDIUM", "name": "diphenoxylate hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Diphenoxylate Hcl.", "Diphenoxylate Hcl. (Bulk)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59788", "medic_application_numbers": ["011945"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["R06AA07", "R06AA57"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2acd0209-02c0-56fa-aa70-13f178115074", "medic_reliability": "HIGH", "medic_smiles": "CN1CCC(OC(c2ccccc2)c2ccccc2)CC1", "name": "diphenylpyraline", "provided_by": ["infores:medic"], "synonym": ["DIPHENYLPYRALINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1492", "DrugCentral:920", "PHAROS:FYZGN9V71Y12", "PUBCHEM.COMPOUND:3103", "UNII:33361OE3AV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59865", "medic_application_numbers": ["020706"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971229", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d5cffa43-e2a1-5290-9998-62755b9c7597", "medic_reliability": "HIGH", "name": "emedastine difumarate", "provided_by": ["infores:medic"], "synonym": ["EMEDASTINE DIFUMARATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:59900", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20090101", "medic_mention_id": "MEDICNE:631605cb-64e3-5ae7-b3b0-cf69f9ab20e6", "medic_reliability": "MEDIUM", "name": "caspofungin acetate", "provided_by": ["infores:medic"], "synonym": ["Caspofungin acetate Injection (Addl. Indication)"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:59909", "medic_stub": true, "name": "dihydroergocornine", "provided_by": ["infores:medic"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:59919", "medic_stub": true, "name": "dihydro-alpha-ergocryptine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:599440", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D01AE16"], "medic_earliest_approval_date": "20051125", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:08b4d57a-1888-50e2-89b6-ff269458afed", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002798"], "medic_reliability": "HIGH", "medic_smiles": "CCC(C)(C)c1ccc(CC(C)CN2C[C@@H](C)O[C@@H](C)C2)cc1", "name": "amorolfine", "provided_by": ["infores:medic"], "synonym": ["Amorolfine"], "xref": ["DRUGBANK:DB09056"]}
{"category": ["biolink:Drug"], "id": "CHEBI:599928", "medic_application_numbers": ["050550"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:56aa9f53-a154-5d5c-b901-b5afe303648d", "medic_reliability": "HIGH", "name": "moxalactam", "provided_by": ["infores:medic"], "synonym": ["MOXALACTAM DISODIUM"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6005", "medic_application_numbers": ["012339|087858"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d29bb1a5-12cf-5c97-9708-ddd5ce7b8863", "medic_reliability": "HIGH", "name": "Isoetharine", "provided_by": ["infores:medic"], "synonym": ["ISOETHARINE HYDROCHLORIDE", "ISOETHARINE MESYLATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:60070", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20221230", "medic_mention_id": "MEDICNE:b953e399-c670-536a-9222-216cc515b2e6", "medic_reliability": "MEDIUM", "name": "ertapenem sodium", "provided_by": ["infores:medic"], "synonym": ["Ertapenem Sodium for Injection", "注射用厄他培南钠"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:60253", "medic_stub": true, "name": "silver cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6028", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:8a17a110-9548-561f-870b-76d77ddaeabc", "medic_reliability": "MEDIUM", "medic_smiles": "CC[n+]1c(-c2ccccc2)c2cc(N/N=N/c3cccc(C(=N)N)c3)ccc2c2ccc(N)cc21.[Cl-]", "name": "Isometamidium chloride", "provided_by": ["infores:medic"], "synonym": ["Isometamidium Chloride (For Veterinary)"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6060", "medic_application_numbers": ["017063"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4a32ae39-0498-54e0-9240-d1f49f86707f", "medic_reliability": "HIGH", "medic_smiles": "O[C@@H]1CO[C@H]2[C@@H]1OC[C@@H]2O", "name": "Isosorbide", "provided_by": ["infores:medic"], "synonym": ["ISOSORBIDE", "Isosorbide Malate Tablets"], "xref": ["UNII:WXR179L51S"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6067", "medic_application_numbers": ["018662|021951|075945|076041|076135|076356|076485|076503|202099|205063|207792|211568|211913|212333|213571|216097|216633|218194"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["D10AD04", "D10AD54", "D10BA01"], "medic_earliest_approval_date": "19820507", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1c6bbc20-7a7e-59e2-a167-c5be4e545a6b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000828"], "medic_reliability": "HIGH", "medic_smiles": "CC1=C(/C=C/C(C)=C/C=C/C(C)=C\\C(=O)O)C(C)(C)CCC1", "name": "isotretinoin", "provided_by": ["infores:medic"], "synonym": ["ISOTRETINOIN", "Isotretinoin", "Isotretinoin 0.05% + Erythromycin 2% gel"], "xref": ["CHEMBL.COMPOUND:CHEMBL547", "DRUGBANK:DB00982", "DrugCentral:1508", "PHAROS:AAM1WQZXPL2C", "PUBCHEM.COMPOUND:5282379", "UNII:EH28UP18IF"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6129", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20050429", "medic_mention_id": "MEDICNE:c15c4aea-21bc-5ab4-bf15-381c2e6de44b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000902"], "medic_reliability": "HIGH", "medic_smiles": "NC(CO)(CO)CO.O=C(c1ccccc1)c1ccc2n1CCC2C(=O)O", "name": "ketorolac", "provided_by": ["infores:medic"], "synonym": ["Ketorolac", "Ketorolac + Levofloxacin", "Ketorolac ODS 10mg (Additional Dosage form)"], "xref": ["CHEMBL.COMPOUND:CHEMBL469,CHEMBL1201124", "DRUGBANK:DB00465", "DrugCentral:1529", "GTOPDB:6661", "PHAROS:WFQSSV4W94CL", "PUBCHEM.COMPOUND:3826,84003", "UNII:YZI5105V0L"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:63056", "medic_stub": true, "name": "zinc cation", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6339", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["M01AH05"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:4d5c2b44-8d98-5a2d-8363-8407fa9a76bd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001020"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(-c2ncc(Cl)cc2-c2ccc(S(C)(=O)=O)cc2)cn1", "name": "etoricoxib", "provided_by": ["infores:medic"], "synonym": ["Etoricoxib", "Etoricoxib injection 90mg/ml", "Thiocolchicoside 8 mg + Etoricoxib 60 mg tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL416146", "DRUGBANK:DB01628", "DrugCentral:1113", "GTOPDB:2896", "PHAROS:TA1UDKMSS5Y2", "PUBCHEM.COMPOUND:123619", "UNII:WRX4NFY03R"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63578", "medic_application_numbers": ["020220|021425"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["V08AB05"], "medic_earliest_approval_date": "19810101", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b26d41bf-aaed-56ac-bfa9-9392d2721bfe", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002892"], "medic_reliability": "HIGH", "medic_smiles": "COCC(=O)Nc1c(I)c(C(=O)NCC(O)CO)c(I)c(C(=O)N(C)CC(O)CO)c1I", "name": "iopromide", "provided_by": ["infores:medic"], "synonym": ["IOPROMIDE", "Iopromide", "Iopromide injection (Equ. To 300 & 370mg of Iodine) (Additional Indication)"], "xref": ["UNII:712BAC33MZ"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63618", "medic_application_numbers": ["019898|076056|076341|076445|076714|076939|077013|077491|077730|077751|077793|077904|077917|077987|079187|203367|206061|207068|209869"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C10AA03"], "medic_earliest_approval_date": "19911031", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:583821fa-5e49-57d3-af62-d09cf791847f", "medic_registration_numbers": ["MOH_RUSSIA:Р N003029/01"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@H](C)C(=O)O[C@H]1C[C@H](O)C=C2C=C[C@H](C)[C@H](CC[C@@H](O)C[C@@H](O)CC(=O)O)[C@H]21", "name": "pravastatin", "provided_by": ["infores:medic"], "synonym": ["ASPIRIN; PRAVASTATIN SODIUM", "PRAVASTATIN SODIUM", "Pravastatin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1144,CHEMBL690", "DRUGBANK:DB00175", "DrugCentral:2239", "GTOPDB:2953", "PHAROS:79Z7FTH2WZ71", "PUBCHEM.COMPOUND:54687,16759173", "UNII:KXO2KT9N0G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63619", "medic_application_numbers": ["019151|021416|075203|075938|075998|076193|076550|078540|202445|202688|203803|205268|205956|210339|212744|212928|213096|214184"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:71f5f659-467f-57a4-bc6d-abcee4a0fe53", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002948"], "medic_reliability": "HIGH", "medic_smiles": "CCCNCC(O)COc1ccccc1C(=O)CCc1ccccc1.Cl", "name": "propafenone", "provided_by": ["infores:medic"], "synonym": ["PROPAFENONE HYDROCHLORIDE", "Propafenone", "Propafenone 150mg/300mg Tablet", "Propafenone Hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL631", "DRUGBANK:DB01182", "DrugCentral:2291", "GTOPDB:2561", "PHAROS:5L7DAVTH8NGY", "PUBCHEM.COMPOUND:4932", "UNII:68IQX3T69U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63620", "medic_application_numbers": ["021641|201823|201889|201892|201942|201950|201970|201971|206153|207004|208866|210150|218163"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "20050221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c684a9c7-d3ed-5855-9bf6-cd79084389d0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004820"], "medic_reliability": "HIGH", "medic_smiles": "C#CCN[C@@H]1CCc2ccccc21.CS(=O)(=O)O", "name": "rasagiline", "provided_by": ["infores:medic"], "synonym": ["RASAGILINE MESYLATE", "Rasagiline", "Rasagiline (as mesylate ) Tablet 0.5mg/1mg", "Razagiline", "rasagiline"], "xref": ["CHEMBL.COMPOUND:CHEMBL887,CHEMBL1201142", "DRUGBANK:DB01367", "DrugCentral:3521", "GTOPDB:6641", "PHAROS:L2PY466DVAZJ", "PUBCHEM.COMPOUND:3052776,3052775", "UNII:003N66TS6T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63621", "medic_application_numbers": ["020828"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["J05AE01"], "medic_earliest_approval_date": "19951206", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3dc747bc-8cb0-549f-bfb5-c54cc0e8d6dc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002435"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)NC(=O)[C@@H]1C[C@@H]2CCCC[C@@H]2CN1C[C@@H](O)[C@H](Cc1ccccc1)NC(=O)[C@H](CC(N)=O)NC(=O)c1ccc2ccccc2n1", "name": "saquinavir", "provided_by": ["infores:medic"], "synonym": ["SAQUINAVIR", "SAQUINAVIR MESYLATE", "Saquinavir", "Saquinavir Capsule"], "xref": ["CHEMBL.COMPOUND:CHEMBL114", "DRUGBANK:DB01232", "PHAROS:6XR2TLCRM53T", "PUBCHEM.COMPOUND:441243", "UNII:L3JE09KZ2F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63622", "medic_application_numbers": ["019865|021151|022306|075237|075238|075366|075429|075500|075515|075563|075663|075725|076140|076214|076576|076883|077070|077616|205108|207428|207429"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7643a919-3ae9-5254-866b-fe45dd52b057", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001814"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)NCC(O)c1ccc(NS(C)(=O)=O)cc1.Cl", "name": "sotalol", "provided_by": ["infores:medic"], "synonym": ["SOTALOL HYDROCHLORIDE", "Sotalol"], "xref": ["CHEMBL.COMPOUND:CHEMBL471", "DRUGBANK:DB00489", "DrugCentral:2464", "GTOPDB:7297", "PHAROS:MWG5WJ5QDVJ3", "PUBCHEM.COMPOUND:5253", "UNII:A6D97U294I"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63623", "medic_application_numbers": ["019998"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19910130", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:713fbba4-ae0a-5f48-b3f3-1c1e48ddd86f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009535)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)[C@@H](S)[C@@H](S)C(=O)O", "name": "succimer", "provided_by": ["infores:medic"], "synonym": ["SUCCIMER", "[99mTc] Sucimer"], "xref": ["UNII:DX1U2629QE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63624", "medic_application_numbers": ["022011|022154"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J05AF11"], "medic_earliest_approval_date": "20061025", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:62a71708-fef2-5437-af4e-9723d37c0c83", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004954"], "medic_reliability": "HIGH", "medic_smiles": "Cc1cn([C@@H]2C[C@@H](O)[C@H](CO)O2)c(=O)[nH]c1=O", "name": "telbivudine", "provided_by": ["infores:medic"], "synonym": ["TELBIVUDINE", "Telbivudine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63626", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["H01AC06"], "medic_earliest_approval_date": "20101110", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:85818d44-9e1d-5dac-a63e-aa0365385bee", "medic_reliability": "HIGH", "name": "tesamorelin", "provided_by": ["infores:medic"], "synonym": ["Tesamorelin", "tesamorelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1237026", "DRUGBANK:DB08869", "DrugCentral:4170", "PHAROS:tesamorelin", "UNII:MQG94M5EEO"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63627", "medic_application_numbers": ["021618|201172|202044|202489|203808"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["G01AF21", "J01XD02", "P01AB02"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:01fd5c5d-7a23-5bca-90e6-bd73c2b0b667", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-N (000058)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCS(=O)(=O)CCn1c([N+](=O)[O-])cnc1C", "name": "tinidazole", "provided_by": ["infores:medic"], "synonym": ["Ciprofloxacin + Tinidazole", "Lidocaine + Tinidazole + Thioconazole", "TINIDAZOLE", "Tinidazole", "Tinidazole + Ciprofloxacin", "Tinidazole + Tioconazole", "Tinidazole 150mg Tablet", "Tinidazole 75mg/5ml Suspension"], "xref": ["DRUGBANK:DB00911", "UNII:033KF7V46H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63628", "medic_application_numbers": ["021814|022292"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["J05AE09"], "medic_earliest_approval_date": "20050622", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:42ef957b-5635-5a2d-b59c-806e571c0326", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001124"], "medic_reliability": "HIGH", "medic_smiles": "CCC[C@@]1(CCc2ccccc2)CC(O)=C([C@H](CC)c2cccc(NS(=O)(=O)c3ccc(C(F)(F)F)cn3)c2)C(=O)O1", "name": "tipranavir", "provided_by": ["infores:medic"], "synonym": ["TIPRANAVIR", "Tipranavir", "tipranavir"], "xref": ["DRUGBANK:DB00932", "UNII:ZZT404XD09"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63629", "medic_application_numbers": ["020397|021447|076280|076281|076282|076283|076284|076286|076321|076347|076354|076371|076416|076533|078868|091283|091502|207170|207199|208187|208622|209605|210021|210267|211798|212196|213223|213365|213544|213798|216190|218920"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["M03BX02"], "medic_earliest_approval_date": "19931222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:270fe8cc-6be9-5432-bc9b-9a99ecc8c5c4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001812"], "medic_reliability": "HIGH", "medic_smiles": "Clc1ccc2nsnc2c1NC1=NCCN1", "name": "tizanidine", "provided_by": ["infores:medic"], "synonym": ["TIZANIDINE HYDROCHLORIDE", "Tizanidine", "Tizanidine Hcl 2mg/4mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1079", "DRUGBANK:DB00697", "DrugCentral:2683", "PHAROS:UVBAZLFK7DQV", "PUBCHEM.COMPOUND:5487", "UNII:6AI06C00GW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63630", "medic_application_numbers": ["020697|204584|207729|208937|210095"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["N04BX01"], "medic_earliest_approval_date": "19970827", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2093ae73-9dac-539f-a19a-82f37bed3b43", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(C(=O)c2cc(O)c(O)c([N+](=O)[O-])c2)cc1", "name": "tolcapone", "provided_by": ["infores:medic"], "synonym": ["TOLCAPONE", "Tolcapone", "tolcapone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1324", "DRUGBANK:DB00323", "DrugCentral:2697", "GTOPDB:6646", "PHAROS:DWDDYTUXCFFS", "PUBCHEM.COMPOUND:4659569", "UNII:CIF6334OLY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63631", "medic_application_numbers": ["020505|020844|076306|076311|076314|076315|076317|076327|076343|076448|076575|077627|077643|077733|077868|077905|078235|078410|078418|078462|078499|078637|078877|079153|079162|079206|090162|090278|090353|091185|201635|205122|205976|206210|207382|208949|210278|214679|215414|215449|215561|215638|215663|216167|216683|217231|217248|217443|217694|217795|217869|218482|218642|218695|219564"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_atc_codes": ["N03AX11"], "medic_earliest_approval_date": "19961224", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1ae235c5-f129-5f07-934c-7ad40fdf05d3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000059"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)O[C@@H]2[C@@H](CO[C@@]3(COS(N)(=O)=O)OC(C)(C)O[C@@H]23)O1", "name": "topiramate", "provided_by": ["infores:medic"], "synonym": ["TOPIRAMATE", "Topiramate", "Topiramate Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL220492", "DRUGBANK:DB00273", "DrugCentral:2706", "GTOPDB:6849", "PHAROS:6G275DDMHZ4N", "PUBCHEM.COMPOUND:5284627", "UNII:0H73WJJ391"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63632", "medic_application_numbers": ["020671|020981|022453|090620|091089|091199|091284|091376|091542|200199|200582|201166|201191|202203|202351|204406|206074|206962"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19960528", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:57709cdd-ab3b-5af3-b2ee-4739ef232ff2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001117"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@@]1(O)C(=O)OCc2c1cc1n(c2=O)Cc2cc3c(CN(C)C)c(O)ccc3nc2-1.Cl", "name": "topotecan", "provided_by": ["infores:medic"], "synonym": ["TOPOTECAN HYDROCHLORIDE", "Topotecan", "topotecan"], "xref": ["CHEMBL.COMPOUND:CHEMBL84", "DRUGBANK:DB01030", "DrugCentral:2707", "PHAROS:ND1VZLURMY8N", "PUBCHEM.COMPOUND:60700", "UNII:7M7YKX2N15"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63633", "medic_application_numbers": ["020715|021288|022437|208956"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_earliest_approval_date": "19930705", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1386cf77-9cb8-5ab5-b728-e1d9455bc70d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003647"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C[C@H](NC(=O)[C@@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1c[nH]cn1)NC(=O)[C@@H]1CCC(=O)N1)C(=O)N[C@@H](CCCNC(=N)N)C(=O)N1CCC[C@H]1C(=O)NCC(N)=O.O=C(O)c1cc2ccccc2c(Cc2c(O)c(C(=O)O)cc3ccccc23)c1O", "name": "triptorelin", "provided_by": ["infores:medic"], "synonym": ["TRIPTORELIN PAMOATE", "Triptorelin", "Triptorelin Controlled Release Injection", "Triptorelin for Injection", "Tritorelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201334", "DRUGBANK:DB06825", "DrugCentral:2968", "PHAROS:APJ2XPGW5F42", "PUBCHEM.COMPOUND:25074470", "UNII:9081Y98W2V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63634", "medic_application_numbers": ["021341"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["M01AH03"], "medic_earliest_approval_date": "20011116", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b8f4b156-11c3-5408-9291-35fcf1111c74", "medic_reliability": "HIGH", "medic_smiles": "Cc1onc(-c2ccccc2)c1-c1ccc(S(N)(=O)=O)cc1", "name": "valdecoxib", "provided_by": ["infores:medic"], "synonym": ["VALDECOXIB"], "xref": ["CHEMBL.COMPOUND:CHEMBL865", "DrugCentral:2799", "GTOPDB:2894", "PHAROS:WWS5U28AU3GJ", "PUBCHEM.COMPOUND:119607", "UNII:2919279Q3W"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63717", "medic_application_numbers": ["021356|022577|078800|079071|090636|090647|090742|091612|203232|206157|206481|206569|209498|209550|211337"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20011026", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:407e3df5-59c0-5575-ab5f-3150e41657a4", "medic_reliability": "HIGH", "medic_smiles": "CC(C)OC(=O)OCOP(=O)(CO[C@H](C)Cn1cnc2c(N)ncnc21)OCOC(=O)OC(C)C.O=C(O)/C=C/C(=O)O", "name": "tenofovir disoproxil", "provided_by": ["infores:medic"], "synonym": ["EMTRICITABINE; TENOFOVIR DISOPROXIL FUMARATE", "TENOFOVIR DISOPROXIL FUMARATE", "Tenofovir disoproxil", "tenofovir disoproxil"], "xref": ["DRUGBANK:DB00300"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63718", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:0aaa4494-e100-54ab-95cd-b9fd74b3f3c7", "medic_reliability": "MEDIUM", "name": "tenofovir disoproxil fumarate", "provided_by": ["infores:medic"], "synonym": ["Tenofovir Disoproxil Fumarate Capsules", "Tenofovir Disoproxil Fumarate Granules", "Tenofovir Disoproxil Fumarate Tablets", "Tenofovir Disoproxil Fumerate 300mg", "Tenofovir disoproxil fumarate 300mg + Lamivudine 300mg tablet", "富马酸替诺福韦二吡呋酯片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63722", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20050822", "medic_mention_id": "MEDICNE:ee8a0fd3-21bc-5a87-9957-a2aa85dea43b", "medic_reliability": "MEDIUM", "name": "pemetrexed disodium", "provided_by": ["infores:medic"], "synonym": ["Pemetrexed Disodium 500mg/100mg Powder for Injection", "Pemetrexed Disodium for Injection", "注射用培美曲塞二钠"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6378", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070531", "medic_mention_id": "MEDICNE:6fa40048-a11f-5e83-bb4b-5174d04bc710", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004040"], "medic_reliability": "MEDIUM", "name": "Lappaconitine", "provided_by": ["infores:medic"], "synonym": ["Lappaconitin", "Lappaconitine hydrobromide", "Лаппаконитина гидробромид"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:63916", "medic_application_numbers": ["021779|217933"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["B01AC11"], "medic_earliest_approval_date": "20030915", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4328484e-909c-5c3b-be4c-cea1b693e42a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005704"], "medic_reliability": "HIGH", "medic_smiles": "CC#CCC(C)[C@H](O)/C=C/[C@@H]1[C@H]2C/C(=C/CCCC(=O)O)C[C@H]2C[C@H]1O", "name": "iloprost", "provided_by": ["infores:medic"], "synonym": ["ILOPROST", "Iloprost", "iloprost"], "xref": ["DRUGBANK:DB01088", "GTOPDB:1895", "PHAROS:96J2MU39B9JC", "PUBCHEM.COMPOUND:6435378", "UNII:JED5K35YGL"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:63925", "medic_stub": true, "name": "latanoprost free acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:63928", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20050127", "medic_mention_id": "MEDICNE:5c5b486f-4d35-5a18-b427-9e6adc69c259", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002067"], "medic_reliability": "MEDIUM", "name": "menadione sodium sulfonate", "provided_by": ["infores:medic"], "synonym": ["Sodium menadione bisulfite", "Менадиона натрия бисульфит"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6402", "medic_application_numbers": ["020905|077083|077084|077085|077086|077087|077090|091369|211863|212308|212453|213497|213652"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "russia", "usa"], "medic_atc_codes": ["L04AK01"], "medic_earliest_approval_date": "19980910", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:13bdd18f-61c1-51d8-8dbd-8a9a29837fe2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000804"], "medic_reliability": "HIGH", "medic_smiles": "Cc1oncc1C(=O)Nc1ccc(C(F)(F)F)cc1", "name": "leflunomide", "provided_by": ["infores:medic"], "synonym": ["LEFLUNOMIDE", "Leflunomide", "Leflunomide Tablets", "leflunomide"], "xref": ["CHEMBL.COMPOUND:CHEMBL960", "DRUGBANK:DB01097", "DrugCentral:1552", "GTOPDB:6825", "PHAROS:9VYUZN1KLN3X", "PUBCHEM.COMPOUND:3899", "UNII:G162GK9U4W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:64022", "medic_application_numbers": ["021742|203659|203683|203741|203821|203825|203828|203966|208717|209741|211053|212661|212682|212917|213349|213830|216172|216568|217397"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20071217", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:41a36799-eea5-5636-8733-27431c04fcaa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000016"], "medic_reliability": "HIGH", "name": "nebivolol", "provided_by": ["infores:medic"], "synonym": ["NEBIVOLOL HYDROCHLORIDE", "NEBIVOLOL HYDROCHLORIDE; VALSARTAN", "Nebivolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL434394", "DRUGBANK:DB04861", "DrugCentral:1887", "PHAROS:78H9V6NSXZX6", "PUBCHEM.COMPOUND:71301", "UNII:030Y90569U"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:64393", "medic_stub": true, "name": "hydrated silica", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6484", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20220404", "medic_mention_id": "MEDICNE:2c7b9122-b660-537e-8649-d7183d5baa32", "medic_reliability": "MEDIUM", "name": "liothyronine sodium", "provided_by": ["infores:medic"], "synonym": ["Liothyronine sodium bulk and Liothyronine sodium tablets 5mcg & 20 mcg"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6503", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_earliest_approval_date": "19910101", "medic_mention_id": "MEDICNE:b82a31a6-1df9-508f-a42c-ca16c7d19050", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000093"], "medic_reliability": "MEDIUM", "name": "lisinopril dihydrate", "provided_by": ["infores:medic"], "synonym": ["Lisinopril", "Lisinopril Dihydrate 10mg/20mg/2.5mg/5mg Tablet", "Lisinopril and Hydrochlorothiazide Tablets", "赖诺普利氢氯噻嗪片"], "xref": ["DRUGBANK:DB00722"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:65173", "medic_application_numbers": ["022192|206890|207098|207231"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["N05AX14"], "medic_earliest_approval_date": "20090506", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ec8dae6c-4f34-5d2f-a638-511e28f0d3dc", "medic_reliability": "HIGH", "medic_smiles": "COc1cc(C(C)=O)ccc1OCCCN1CCC(c2noc3cc(F)ccc23)CC1", "name": "iloperidone", "provided_by": ["infores:medic"], "synonym": ["ILOPERIDONE", "Iloperidone", "Iloperidone Tablets 1mg/2mg/4mg/6mg/8mg /10mg/12mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL14376", "DRUGBANK:DB04946", "DrugCentral:3294", "GTOPDB:87", "PHAROS:9ZDKPF9CNB3U", "PUBCHEM.COMPOUND:71360", "UNII:VPO7KJ050N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6518", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19980722", "medic_mention_id": "MEDICNE:241a7559-bf66-5aea-81f9-7e48d19326c2", "medic_reliability": "MEDIUM", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cc(F)c(N3CCNC(C)C3)c(F)c21.Cl", "name": "lomefloxacin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Lomefloxacin Hcl 3mg/ml Eye Drops"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6520", "medic_application_numbers": ["017588|219265"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["L01AD02"], "medic_earliest_approval_date": "19710101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fccbe4ea-8912-52e8-acfe-b50cf4e1e619", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006077"], "medic_reliability": "HIGH", "medic_smiles": "O=NN(CCCl)C(=O)NC1CCCCC1", "name": "lomustine", "provided_by": ["infores:medic"], "synonym": ["LOMUSTINE", "Lomustine", "Lomustine 10mg/40mg/100mg Capsule"], "xref": ["DRUGBANK:DB01206", "UNII:7BRF0Z81KG"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:6710", "medic_stub": true, "name": "meclofenamic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6712", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100812", "medic_mention_id": "MEDICNE:064a43f3-1744-5f48-82f9-5a4680157d28", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-008007/10"], "medic_reliability": "MEDIUM", "name": "Meclofenoxate", "provided_by": ["infores:medic"], "synonym": ["Meclofenoxate", "Меклофеноксат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:67121", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01XX07"], "medic_earliest_approval_date": "20060609", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:7794320d-b7b7-5608-8787-4869147ef4ec", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003185)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "O=[N+]([O-])c1ccc(O)c2ncccc12", "name": "nitroxoline", "provided_by": ["infores:medic"], "synonym": ["Nitroxoline", "Нитроксолин"], "xref": ["CHEMBL.COMPOUND:CHEMBL1454910", "DrugCentral:1954", "PHAROS:QJHCLT7QDGF4", "PUBCHEM.COMPOUND:19910", "UNII:A8M33244M6"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:67155", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20021205", "medic_mention_id": "MEDICNE:a4921f4c-9592-5003-a409-1e0e3a902388", "medic_reliability": "MEDIUM", "name": "mycophenolate sodium", "provided_by": ["infores:medic"], "synonym": ["Mycophenolate Sodium Enteric coated tablet 540 mg (Additional Strength)", "Mycophenolate sodium (Gastro-resistant tablets)"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6723", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:0d1c8c8b-2527-55dd-8d8e-04cb140f9bae", "medic_reliability": "LOW", "name": "megestrol acetate", "provided_by": ["infores:medic"], "synonym": ["Magestrol Acetate Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201139", "DrugCentral:1667", "PHAROS:UTW5246BHCPN", "PUBCHEM.COMPOUND:11683", "UNII:TJ2M0FR8ES"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6729", "medic_mention_id": "MEDICNE:27fc0dd3-213d-5917-b2f6-84d3551751b3", "medic_reliability": "EXCLUDED", "name": "Melarsoprol", "provided_by": ["infores:medic"], "synonym": ["Melarsoprol"], "xref": ["DRUGBANK:DB12864"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:68595", "medic_application_numbers": ["201917"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["J05AP02"], "medic_earliest_approval_date": "20110523", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e80112ae-079b-5222-b3a6-7239e87ef519", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001931"], "medic_reliability": "HIGH", "medic_smiles": "CCC[C@H](NC(=O)[C@@H]1[C@H]2CCC[C@H]2CN1C(=O)[C@@H](NC(=O)[C@@H](NC(=O)c1cnccn1)C1CCCCC1)C(C)(C)C)C(=O)C(=O)NC1CC1", "name": "telaprevir", "provided_by": ["infores:medic"], "synonym": ["TELAPREVIR", "Telaprevir"], "xref": ["CHEMBL.COMPOUND:CHEMBL231813", "DrugCentral:4173", "GTOPDB:7871", "PHAROS:5LVPD4N283TN", "PUBCHEM.COMPOUND:3010818", "UNII:655M5O3W0U"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:68596", "medic_stub": true, "name": "alpha-Asp-Leu", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:68621", "medic_application_numbers": ["202258"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J05AP03"], "medic_earliest_approval_date": "20110513", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:884629c8-6916-5ac3-8716-df243fe26ce7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002070"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)NC(=O)N[C@H](C(=O)N1C[C@H]2[C@@H]([C@H]1C(=O)NC(CC1CCC1)C(=O)C(N)=O)C2(C)C)C(C)(C)C", "name": "boceprevir", "provided_by": ["infores:medic"], "synonym": ["BOCEPREVIR", "Boceprevir"], "xref": ["CHEMBL.COMPOUND:CHEMBL218394", "DrugCentral:4172", "GTOPDB:7876", "PHAROS:FC2DSF1KRQ5F", "PUBCHEM.COMPOUND:10324367", "UNII:89BT58KELH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:68639", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:e0fff673-069a-5e67-aa88-7eaa652a1167", "medic_reliability": "MEDIUM", "name": "abiraterone acetate", "provided_by": ["infores:medic"], "synonym": ["Ab iraterone Acetate Tablets 250mg", "Abiraterone Acetate Tablets", "Abiraterone acetate Tablet 250 mg (Additional Indication)", "醋酸阿比特龙片"], "xref": ["CHEMBL.COMPOUND:CHEMBL271227", "DrugCentral:4176", "PHAROS:84J8P9Z9HM33", "PUBCHEM.COMPOUND:9821849", "UNII:EM5OCB9YJ6"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:68643", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:aecd86fa-f4dc-509c-a201-c762b767284b", "medic_reliability": "MEDIUM", "name": "estramustine phosphate", "provided_by": ["infores:medic"], "synonym": ["Estramustine Phosphate Capsule"], "xref": ["CHEMBL.COMPOUND:CHEMBL1756", "DrugCentral:1066", "PHAROS:SHP4SGGPKTCQ", "PUBCHEM.COMPOUND:259329", "UNII:MUZ9585Y7B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:68647", "medic_application_numbers": ["203085|209728"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01EX05"], "medic_earliest_approval_date": "20120927", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ca98de84-c1a0-5cf9-8c23-a9384820d473", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003405"], "medic_reliability": "HIGH", "medic_smiles": "CNC(=O)c1cc(Oc2ccc(NC(=O)Nc3ccc(Cl)c(C(F)(F)F)c3)c(F)c2)ccn1", "name": "regorafenib", "provided_by": ["infores:medic"], "synonym": ["REGORAFENIB", "REGORAFENIB HYDRATE", "Regorafenib", "Regorafenib Tablets", "regorafenib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1946170", "DRUGBANK:DB08896", "DrugCentral:4654", "GTOPDB:5891", "PHAROS:3HJ7GSS5ADN3", "PUBCHEM.COMPOUND:11167602", "UNII:24T2A1DOYB"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:68841", "medic_application_numbers": ["201277|216081|217480"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["V08CA09"], "medic_earliest_approval_date": "20090129", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8ce31396-ee0f-5dc9-ac36-b13059a18b6f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006525"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CN1CCN(CC(=O)O)CCN(C(CO)C(O)CO)CCN(CC(=O)O)CC1", "name": "gadobutrol", "provided_by": ["infores:medic"], "synonym": ["GADOBUTROL", "Gadobutrol", "Gadobutrol Injection", "Gadobutrol solution for"]}
{"category": ["biolink:Drug"], "id": "CHEBI:68845", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia"], "medic_atc_codes": ["C09CA09"], "medic_earliest_approval_date": "20111207", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:b3df25ea-00c8-52a8-96e8-049161ca9711", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004253)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1nc2cccc(C(=O)OCc3oc(=O)oc3C)c2n1Cc1ccc(-c2ccccc2-c2noc(=O)[nH]2)cc1", "name": "azilsartan medoxomil", "provided_by": ["infores:medic"], "synonym": ["Azilsartan Medoxomil Bulk &", "Azilsartan medoxomil", "Azilsartan medoxomil + Amlodipine", "Azilsartan medoxomil + Chlorthalidone", "azilsartan medoxomil"], "xref": ["CHEMBL.COMPOUND:CHEMBL2028661", "DrugCentral:4322", "PHAROS:9X17Z6A5DL8Z", "PUBCHEM.COMPOUND:135409642", "UNII:LL0G25K7I2"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:68847", "medic_application_numbers": ["200796|214489"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110225", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1704a73d-3db7-54e1-bd87-6eb6eff24853", "medic_reliability": "HIGH", "name": "azilsartan kamedoxomil", "provided_by": ["infores:medic"], "synonym": ["AZILSARTAN KAMEDOXOMIL", "AZILSARTAN KAMEDOXOMIL; CHLORTHALIDONE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:68850", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan"], "medic_earliest_approval_date": "20120118", "medic_mention_id": "MEDICNE:18f3e2de-61d4-5659-a816-296879d58a74", "medic_reliability": "HIGH", "name": "azilsartan", "provided_by": ["infores:medic"], "synonym": ["AZILSARTAN", "Azilsartan", "Azilsartan Tablets", "FDC of Azilsartan + chlorthalidone (40 mg + 12.5 mg) and Azilsartan + chlorthalidone (40 mg + 25 mg) tablet"], "xref": ["DRUGBANK:DB21772", "UNII:F9NUX55P23"]}
{"category": ["biolink:Drug"], "id": "CHEBI:68855", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_atc_codes": ["V09AB03"], "medic_earliest_approval_date": "20000727", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_mention_id": "MEDICNE:1f822d69-3e65-5b2f-97ef-569795d8656b", "medic_reliability": "HIGH", "medic_smiles": "COC(=O)[C@H]1[C@@H](c2ccc(I)cc2)C[C@@H]2CC[C@H]1N2CCCF", "name": "ioflupane I(123)", "provided_by": ["infores:medic"], "synonym": ["IOFLUPANE (123I)", "ioflupane (123I)", "ioflupane (123l)"], "xref": ["CHEMBL.COMPOUND:CHEMBL3989517", "DrugCentral:4230", "PHAROS:4Z9CS1XKCA8Y", "PUBCHEM.COMPOUND:3086674"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6888", "medic_application_numbers": ["060611"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1064d3db-c73e-5184-85c5-51e486c4c644", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002113"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H]1C[C@@H]2[C@H]([C@@H](O)C[C@@]3(C)[C@H]2CC[C@]3(O)C(=O)COC(=O)CCC(=O)[O-])[C@@]2(C)C=CC(=O)C=C12.[Na+]", "name": "6alpha-methylprednisolone", "provided_by": ["infores:medic"], "synonym": ["METHYLPREDNISOLONE", "METHYLPREDNISOLONE ACETATE", "METHYLPREDNISOLONE ACETATE; NEOMYCIN SULFATE", "METHYLPREDNISOLONE SODIUM SUCCINATE", "Methylprednisolone", "Methylprednisolone Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201081,CHEMBL650", "DRUGBANK:DB00959", "DrugCentral:1768", "GTOPDB:7088", "PHAROS:AG8BQYZ5Q9XN", "PUBCHEM.COMPOUND:23680530,6741", "UNII:X4W7ZR7023"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6889", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:040cbb23-68b7-510c-a7ec-16a50c5f3413", "medic_reliability": "MEDIUM", "name": "methylprednisolone acetate", "provided_by": ["infores:medic"], "synonym": ["Methylprednisolone Acetate 40mg/ml Vial"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200844", "DrugCentral:1770", "PHAROS:Z1B6S7RVHF2L", "PUBCHEM.COMPOUND:49800030", "UNII:43502P7F0P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6890", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19880901", "medic_mention_id": "MEDICNE:9ae9b30d-b524-5345-a74e-d7d4a116364b", "medic_reliability": "MEDIUM", "name": "Methylprednisolone sodium succinate", "provided_by": ["infores:medic"], "synonym": ["Methylprednisolone Sodium Succinate for Injection", "注射用甲泼尼龙琥珀酸钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6897", "medic_application_numbers": ["019907|075720"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891229", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:387a868f-f0d6-5e43-af43-8033c1ac5d87", "medic_reliability": "HIGH", "name": "metipranolol", "provided_by": ["infores:medic"], "synonym": ["METIPRANOLOL HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1291", "DrugCentral:1779", "PHAROS:QQKKLZBL7DYY", "PUBCHEM.COMPOUND:31477", "UNII:X39AL81KEB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6899", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240223", "medic_mention_id": "MEDICNE:b059cec9-527f-54fb-8c38-482ac1ec1c28", "medic_reliability": "MEDIUM", "name": "metoclopramide hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Metoclopramide Hydrochloride Injection", "盐酸甲氧氯普胺注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6901", "medic_application_numbers": ["006632"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b19f0896-2b26-5650-83fd-a3385c5c70bb", "medic_reliability": "HIGH", "name": "Metocurine iodide", "provided_by": ["infores:medic"], "synonym": ["METOCURINE IODIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6904", "medic_application_numbers": ["019962|076640|076862|076969|077176|077298|077779|078889|090615|090617|202033|203028|203699|203894|204106|204161|205541|206980|207206|207465|209272|210428|210597|211143|213854|214004|214110|215637|216509|216916"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["C07AB02"], "medic_earliest_approval_date": "19810101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:98aa4881-b440-5a85-a734-820a1103cebd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000022"], "medic_reliability": "HIGH", "medic_smiles": "COCCc1ccc(OCC(O)CNC(C)C)cc1", "name": "metoprolol", "provided_by": ["infores:medic"], "synonym": ["METOPROLOL FUMARATE", "METOPROLOL SUCCINATE", "METOPROLOL TARTRATE", "Metoprolol", "Metoprolol (As succinate) 25mg + Amlodipine (As besylate) 5mg (additional strength)", "Metoprolol (As succinate) ER 25mg/50mg + Ramipril 2.5mg/5mg", "Metoprolol ER + Amlodipine tablets (Additional Indication)", "Metoprolol Tartrate"], "xref": ["CHEMBL.COMPOUND:CHEMBL13", "DRUGBANK:DB00264", "DrugCentral:1786", "GTOPDB:553", "PHAROS:L4D1FYPSTQQJ", "PUBCHEM.COMPOUND:4171", "UNII:GEB06NHM23"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6905", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20050420", "medic_mention_id": "MEDICNE:5eb935ec-e8f4-5fbf-a297-b50eb2c3bfa9", "medic_reliability": "MEDIUM", "name": "Metoprolol succinate", "provided_by": ["infores:medic"], "synonym": ["Metoprolol Succinate Extended-Release Capsules", "Metoprolol Succinate Extended-Release Tablets", "琥珀酸美托洛尔缓释片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6906", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:c436f893-dd7a-54b7-b65b-3f581ebde1db", "medic_reliability": "MEDIUM", "name": "Metoprolol tartrate", "provided_by": ["infores:medic"], "synonym": ["Metoprolol Tartrate 1mg/ml Injection", "Metoprolol Tartrate 50mg/100mg Tablet", "Metoprolol Tartrate ER Tablet 75mg (additional strength)", "Metoprolol Tartrate Injection", "Metoprolol Tartrate Tablets", "Metoprolol Tartrate(Bulk)", "Metoprolol tartrate tablets 50 mg (Addl. Indication)", "酒石酸美托洛尔片"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:691037", "medic_application_numbers": ["017856|018309|018586|018594|018763|073193|073210|073440|074286|074904|076510|077552|077770|078369|078657|090727|201005|202838|203234|203787|204141|204272|204675|204965|205082|205206|205594|205620|206441|206740|206792|208044|208101|208104|208124|208163|208164|209595|209973|210980"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D07AC03", "D07XC02"], "medic_earliest_approval_date": "19710101", "medic_features": ["STEROID"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e4c204fe-1ffb-567a-be07-cd1ef08273d7", "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@]2(C)[C@H]1C(=O)CO", "name": "desoximetasone", "provided_by": ["infores:medic"], "synonym": ["DESOXIMETASONE", "Desoximetasone", "Desoximetasone 0.05% Ointment", "Desoximetasone 2.5mg/gm Ointment"], "xref": ["CHEMBL.COMPOUND:CHEMBL1766", "DRUGBANK:DB00547", "DrugCentral:819", "GTOPDB:7067", "PHAROS:VG2C8XL1YASY", "PUBCHEM.COMPOUND:5311067", "UNII:4E07GXB7AU"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6912", "medic_application_numbers": ["017871|213734|215541|218620"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["C02KB01"], "medic_earliest_approval_date": "19820101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d8ede1d7-15b0-5015-b5b4-3831b6e0b862", "medic_reliability": "HIGH", "medic_smiles": "C[C@](N)(Cc1ccc(O)cc1)C(=O)O", "name": "alpha-methyl-L-tyrosine", "provided_by": ["infores:medic"], "synonym": ["METIROSINE", "METYROSINE", "Metyrosine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200862", "DRUGBANK:DB00765", "DrugCentral:1792", "PHAROS:XFUKSYG2S3BL", "PUBCHEM.COMPOUND:6918925", "UNII:DOQ0J0TPF7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6916", "medic_application_numbers": ["018873|074377|074450|074711|074865|213500|214089|214352|215315|215876|216463"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19851230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:03dde32a-d6e7-5b21-814f-ee7c8e86a48b", "medic_reliability": "HIGH", "medic_smiles": "Cc1cccc(C)c1OCC(C)N.Cl", "name": "mexiletine", "provided_by": ["infores:medic"], "synonym": ["MEXILETINE HYDROCHLORIDE", "Mexiletine", "mexiletine hcl"], "xref": ["CHEMBL.COMPOUND:CHEMBL146855,CHEMBL558,CHEMBL1200606", "DRUGBANK:DB00379", "DrugCentral:1794", "GTOPDB:2629", "PHAROS:NGCHGGMTAKG5", "PUBCHEM.COMPOUND:185376,4178,20148681", "UNII:1U511HHV4Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6917", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:f879132c-6d86-5652-9772-be239f808190", "medic_reliability": "MEDIUM", "name": "mexiletine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Mexiletine Hcl 250mg/10ml Injection", "Mexiletine Hcl 50mg/150mg Capsule"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6919", "medic_application_numbers": ["050549|062333|062372|062697"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3445f235-daf7-5c65-9bb1-82500ad2d1c1", "medic_reliability": "HIGH", "name": "mezlocillin", "provided_by": ["infores:medic"], "synonym": ["MEZLOCILLIN SODIUM MONOHYDRATE"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6935", "medic_application_numbers": ["020682|203965"], "medic_approved_authorities": ["CDSCO", "FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "usa"], "medic_atc_codes": ["A10BF02"], "medic_earliest_approval_date": "19961218", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e8bacebf-671b-5f9a-a2b4-0faa7b3ef045", "medic_reliability": "HIGH", "medic_smiles": "OCCN1C[C@H](O)[C@@H](O)[C@H](O)[C@H]1CO", "name": "Miglitol", "provided_by": ["infores:medic"], "synonym": ["MIGLITOL", "Miglitol", "Miglitol (50mg) + Metformin HCl SR (500mg) tablet.", "Miglitol Calcium Tablets", "Miglitol Orally Disintegrating Tablets", "Miglitol Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1561", "DRUGBANK:DB00491", "DrugCentral:1806", "GTOPDB:4842", "PHAROS:M6XMU3BANY2C", "PUBCHEM.COMPOUND:441314", "UNII:0V5436JAQW"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:69441", "medic_application_numbers": ["020922"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19991210", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d104dcb3-163d-59a0-ac7b-86271d8fc378", "medic_reliability": "MEDIUM", "name": "p-methoxyphenol", "provided_by": ["infores:medic"], "synonym": ["MEQUINOL; TRETINOIN"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:6958", "medic_application_numbers": ["020098|078562|209708"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19920122", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:23692d34-e6f3-5cc0-87d3-01e68f8cbec2", "medic_reliability": "HIGH", "name": "Mivacurium", "provided_by": ["infores:medic"], "synonym": ["MIVACURIUM CHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL984", "DrugCentral:1822", "PHAROS:ZX6G9CD1PWV7", "PUBCHEM.COMPOUND:5281080", "UNII:77D66S9Q93"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:6965", "medic_application_numbers": ["017111|017938|090453"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c7bd3fb5-d525-5e7f-999e-5fe480d1d53e", "medic_reliability": "HIGH", "name": "Molindone", "provided_by": ["infores:medic"], "synonym": ["MOLINDONE HYDROCHLORIDE", "Molindone"], "xref": ["CHEMBL.COMPOUND:CHEMBL460", "DRUGBANK:DB01618", "DrugCentral:1830", "GTOPDB:207", "PHAROS:KDAD8KR81WA7", "PUBCHEM.COMPOUND:23897", "UNII:RT3Y3QMF8N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6970", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["D07AC13", "D07XC03", "R01AD09", "R03BA07"], "medic_earliest_approval_date": "20071228", "medic_features": ["STEROID"], "medic_mention_id": "MEDICNE:ae353f61-6ea7-5545-b4ed-dcc2ff07e291", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000073"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(Cl)[C@@H](O)C[C@]2(C)[C@@]1(OC(=O)c1ccco1)C(=O)CCl", "name": "mometasone", "provided_by": ["infores:medic"], "synonym": ["Mometasone", "Mometasone 0.1 % + Fusidic acid 2% cream/ointment", "Mometasone+[Sodium Heparin]"], "xref": ["DRUGBANK:DB00764", "UNII:8HR4QJ6DW8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6993", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19991029", "medic_mention_id": "MEDICNE:a8de161f-00cb-5f86-80e7-048a536e920a", "medic_reliability": "MEDIUM", "name": "montelukast sodium", "provided_by": ["infores:medic"], "synonym": ["Montelukast Sodium Granules", "Montelukast Sodium Tablets", "孟鲁司特钠颗粒"]}
{"category": ["biolink:Drug"], "id": "CHEBI:6997", "medic_application_numbers": ["019753"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C01BG01"], "medic_earliest_approval_date": "19900619", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e472f47a-b23c-5e7b-9855-eef9883af475", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002013"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)Nc1ccc2c(c1)N(C(=O)CCN1CCOCC1)c1ccccc1S2", "name": "moricizine", "provided_by": ["infores:medic"], "synonym": ["MORICIZINE HYDROCHLORIDE", "Moracizine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1075", "DrugCentral:1842", "PHAROS:GGCMNFLZQF58", "PUBCHEM.COMPOUND:34633", "UNII:2GT1D0TMX1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7003", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20081104", "medic_mention_id": "MEDICNE:3dcd71fd-c083-5dc3-8129-8151a67a9d61", "medic_reliability": "MEDIUM", "name": "morphine sulfate", "provided_by": ["infores:medic"], "synonym": ["Morphine Sulfate Extended-Release Tablets", "硫酸吗啡缓释片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7008", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20020830", "medic_mention_id": "MEDICNE:f9c17a69-3186-5e76-9f21-e139f053b827", "medic_reliability": "MEDIUM", "name": "moxifloxacin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Moxifloxacin Hydrochloride Eye Drops", "Moxifloxacin Hydrochloride Tablets", "盐酸莫西沙星片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7009", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C02AC05"], "medic_earliest_approval_date": "20061229", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:ccaf0d81-f914-519e-a2ce-35d89450629d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002321"], "medic_reliability": "HIGH", "medic_smiles": "COc1nc(C)nc(Cl)c1NC1=NCCN1", "name": "Moxonidine", "provided_by": ["infores:medic"], "synonym": ["Moxonidine", "Moxonidine tablet 0.2mg/0.3mg/0.4mg", "Normatens"], "xref": ["CHEMBL.COMPOUND:CHEMBL19236", "DRUGBANK:DB09242", "DrugCentral:1856", "PHAROS:5F27N1Y5NK8X", "PUBCHEM.COMPOUND:4810", "UNII:CC6X0L40GW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7025", "medic_application_numbers": ["050703|050746|201587|207116|212465|213053|213076|214811"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19871231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0808068b-eb87-5d2f-9f16-95a712dd45b9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001286"], "medic_reliability": "HIGH", "medic_smiles": "C/C(=C\\C(=O)OCCCCCCCCC(=O)[O-])C[C@@H]1OC[C@H](C[C@@H]2O[C@H]2[C@@H](C)[C@H](C)O)[C@@H](O)[C@H]1O.C/C(=C\\C(=O)OCCCCCCCCC(=O)[O-])C[C@@H]1OC[C@H](C[C@@H]2O[C@H]2[C@@H](C)[C@H](C)O)[C@@H](O)[C@H]1O.[Ca+2]", "name": "mupirocin", "provided_by": ["infores:medic"], "synonym": ["MUPIROCIN", "MUPIROCIN CALCIUM", "Mupirocin", "Mupirocin (2%) + Methylprednisolone Aceponate (0.1%) Cream.", "Mupirocin 2% w/w Topical Ointment"], "xref": ["CHEMBL.COMPOUND:CHEMBL719", "DRUGBANK:DB00410", "DrugCentral:1857", "PHAROS:SQUVG7HHHVCA", "PUBCHEM.COMPOUND:446596", "UNII:D0GX863OA5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:70707", "medic_application_numbers": ["022567|208200|208202|208209|208212|208228"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20110121", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:881d267b-7f85-509f-9bc6-dfecc0c86929", "medic_reliability": "HIGH", "medic_smiles": "Cl.N#Cc1ccc2[nH]cc(CCCCN3CCN(c4ccc5oc(C(N)=O)cc5c4)CC3)c2c1", "name": "vilazodone", "provided_by": ["infores:medic"], "synonym": ["VILAZODONE HYDROCHLORIDE", "Vilazodone"], "xref": ["CHEMBL.COMPOUND:CHEMBL439849", "DRUGBANK:DB06684", "DrugCentral:4223", "GTOPDB:7427", "PHAROS:YCR64UZMTFBN", "PUBCHEM.COMPOUND:6918314", "UNII:S239O2OOV3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:70708", "medic_application_numbers": ["022252"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["G03DB08"], "medic_earliest_approval_date": "20080404", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e0980045-7cfd-5dc5-bf87-96ff57c90b2a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000455"], "medic_reliability": "HIGH", "medic_smiles": "C[C@]12CCC3=C4CCC(=O)C=C4CC[C@H]3[C@@H]1CC[C@@]2(O)CC#N", "name": "dienogest", "provided_by": ["infores:medic"], "synonym": ["DIENOGEST", "DIENOGEST; ESTRADIOL VALERATE", "Dienogest", "Dienogest + Estradiol Valerate", "Dienogest + Estradiol Valerate and Estradiol Valerate", "Dienogest + Estradiol Valerate and Estradiol Valerate [Set]", "Dienogest + Ethinylestradiol", "Dienogest 2mg Tablets", "Dienogest Bulk & 2mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201864", "DRUGBANK:DB09123", "DrugCentral:871", "PHAROS:Y5MTLGFFNJ13", "PUBCHEM.COMPOUND:68861", "UNII:46M3EV8HHE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:70710", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20120101", "medic_mention_id": "MEDICNE:5ed253ae-be91-5afa-a720-dd7e53b03ce0", "medic_reliability": "MEDIUM", "name": "eribulin mesylate", "provided_by": ["infores:medic"], "synonym": ["Elibulin Mesylate Injection", "Eribulin mesylate solution for injection 0.88mg / 2ml vial", "Eribulin mesylate solution for injection 0.88mg in 2ml vial (Add. Indication)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:70718", "medic_application_numbers": ["200327|208075"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["J01DI02"], "medic_earliest_approval_date": "20101029", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8037b3f5-8f18-54d0-beb4-ecaac44c55c5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001912"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.CCO/N=C(\\C(=O)N[C@@H]1C(=O)N2C(C(=O)[O-])=C(Sc3nc(-c4cc[n+](C)cc4)cs3)CS[C@H]12)c1nsc(NP(=O)(O)O)n1.O", "name": "ceftaroline fosamil", "provided_by": ["infores:medic"], "synonym": ["CEFTAROLINE FOSAMIL", "Ceftaroline Fosamil", "Ceftaroline Fosamil Injection 600", "ceftaroline fosamil"]}
{"category": ["biolink:Drug"], "id": "CHEBI:70729", "medic_mention_id": "MEDICNE:587fc205-15b3-52e5-8f53-6be1538d0e92", "medic_reliability": "EXCLUDED", "name": "ceftaroline", "provided_by": ["infores:medic"], "synonym": ["Ceftaroline"], "xref": ["DRUGBANK:DB06590", "UNII:H36Z0FHR8K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:70732", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20160101", "medic_mention_id": "MEDICNE:ba51c28f-9206-5e14-b649-e517f7d668ce", "medic_reliability": "MEDIUM", "name": "lurasidone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Lurasidone Hydrochloride Bulk &", "Lurasidone Hydrochloride Tablets", "盐酸鲁拉西酮片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:70735", "medic_application_numbers": ["200603|208002|208016|208028|208031|208037|208045|208047|208049|208052|208055|208058|208060|208066|210388|212091|212124|212244|213248|218174"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["N05AE05"], "medic_earliest_approval_date": "20101028", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3012c846-7cbc-5d4a-99b8-b7a200fb2409", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003794"], "medic_reliability": "HIGH", "medic_smiles": "O=C1[C@@H]2[C@H]3CC[C@H](C3)[C@@H]2C(=O)N1C[C@@H]1CCCC[C@H]1CN1CCN(c2nsc3ccccc23)CC1", "name": "lurasidone", "provided_by": ["infores:medic"], "synonym": ["LURASIDONE HYDROCHLORIDE", "Lurasidone", "lurasidone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1237021", "DRUGBANK:DB08815", "DrugCentral:4168", "GTOPDB:7461", "PHAROS:BAV88W6QFVXP", "PUBCHEM.COMPOUND:213046", "UNII:22IC88528T"]}
{"category": ["biolink:Drug"], "id": "CHEBI:70743", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20110121", "medic_mention_id": "MEDICNE:0a8d925d-fac7-597d-87bc-5c8a178f11fa", "medic_reliability": "HIGH", "name": "dabigatran etexilate methanesulfonate", "provided_by": ["infores:medic"], "synonym": ["DABIGATRAN ETEXILATE METHANESULFONATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:70746", "medic_application_numbers": ["022512|207922|207961|208039|208040|208048|208067|208070|213879|214358|215233"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20080317", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:01393fc8-9a87-5ae8-9578-d9657fca62b4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000872"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCCOC(=O)NC(=N)c1ccc(NCc2nc3cc(C(=O)N(CCC(=O)OCC)c4ccccn4)ccc3n2C)cc1.CS(=O)(=O)O", "name": "dabigatran etexilate", "provided_by": ["infores:medic"], "synonym": ["DABIGATRAN ETEXILATE MESYLATE", "Dabigatran etexilate", "dabigatran etexilate"], "xref": ["CHEMBL.COMPOUND:CHEMBL539697", "DrugCentral:776", "PHAROS:FLAWC2XFBW7X", "PUBCHEM.COMPOUND:9578572", "UNII:2E18WX195X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:70752", "medic_mention_id": "MEDICNE:428f7219-921d-5e01-adf2-ffb7b3fcf759", "medic_reliability": "EXCLUDED", "name": "dabigatran", "provided_by": ["infores:medic"], "synonym": ["Dabigatran"], "xref": ["CHEMBL.COMPOUND:CHEMBL48361", "DRUGBANK:DB14726", "GTOPDB:6380", "PHAROS:JPL68U7VZNTQ", "PUBCHEM.COMPOUND:216210", "UNII:I0VM4M70GC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71013", "medic_application_numbers": ["202834|208277|209538|209801|218152|218178"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_atc_codes": ["N03AX22"], "medic_earliest_approval_date": "20120723", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fcba2066-6a45-5808-9010-8a88c7d9d969", "medic_reliability": "HIGH", "medic_smiles": "N#Cc1ccccc1-c1cc(-c2ccccn2)cn(-c2ccccc2)c1=O", "name": "perampanel", "provided_by": ["infores:medic"], "synonym": ["PERAMPANEL", "PERAMPANEL HYDRATE", "Perampanel", "perampanel"], "xref": ["CHEMBL.COMPOUND:CHEMBL1214124", "DRUGBANK:DB08883", "DrugCentral:4684", "PHAROS:SVLH6GSG9Z77", "PUBCHEM.COMPOUND:9924495", "UNII:H821664NPK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71019", "medic_application_numbers": ["203585"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20121026", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2e1851bc-9e1e-5a6b-b77d-d26b7bdbb1dc", "medic_reliability": "HIGH", "name": "omacetaxine mepesuccinate", "provided_by": ["infores:medic"], "synonym": ["OMACETAXINE MEPESUCCINATE"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:71023", "medic_application_numbers": ["022134|209290|209706|210659"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["S01GX11"], "medic_earliest_approval_date": "20100728", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:0f59f41c-e0d6-5019-8074-1d95c9af86a6", "medic_reliability": "HIGH", "medic_smiles": "CN1CCC(=C2c3ccccc3CCn3c(C=O)cnc32)CC1", "name": "alcaftadine", "provided_by": ["infores:medic"], "synonym": ["ALCAFTADINE", "Alcaftadine", "Alcaftadine Eye Drops 0.25% w/v &"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201747", "DRUGBANK:DB06766", "DrugCentral:4165", "PHAROS:UB9SA8WABQD2", "PUBCHEM.COMPOUND:19371515", "UNII:7Z8O94ECSX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71025", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20180314", "medic_mention_id": "MEDICNE:ff985518-ec5b-538e-acd2-89c94c75d5ba", "medic_reliability": "MEDIUM", "name": "ulipristal acetate", "provided_by": ["infores:medic"], "synonym": ["Ulipristal Acetate 5 mg tablets", "Ulipristal Acetate bulk"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103846,CHEMBL260538", "DrugCentral:4166", "GTOPDB:7460", "PHAROS:SQMHQGH31URQ", "PUBCHEM.COMPOUND:13559281,130904", "UNII:YF7V70N02B"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71028", "medic_application_numbers": ["022562|213395|213729"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["A16AA05"], "medic_earliest_approval_date": "20030124", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:73328f81-8962-5da3-b2e5-babd792c1224", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008186"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)N[C@@H](CCC(=O)O)C(=O)O", "name": "carglumic acid", "provided_by": ["infores:medic"], "synonym": ["CARGLUMIC ACID", "Carglumic acid", "carglumic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201780", "DRUGBANK:DB06775", "DrugCentral:3068", "PHAROS:ZVR9PSP8DCU7", "PUBCHEM.COMPOUND:121396", "UNII:5L0HB4V1EW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71193", "medic_application_numbers": ["022341|206321|214568|215245|215421|215503|217063|217234|217590|218115"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["A10BJ02"], "medic_earliest_approval_date": "20090630", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:978eddb0-0230-55c4-81f8-2dfa2aadf344", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003491"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCC(=O)N[C@@H](CCC(=O)NCCCC[C@H](NC(=O)[C@H](C)NC(=O)[C@H](C)NC(=O)[C@H](CCC(N)=O)NC(=O)CNC(=O)[C@H](CCC(=O)O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](CC(=O)O)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@@H](NC(=O)CNC(=O)[C@H](CCC(=O)O)NC(=O)[C@H](C)NC(=O)[C@@H](N)Cc1cnc[nH]1)[C@@H](C)O)[C@@H](C)O)C(C)C)C(=O)N[C@@H](CCC(=O)O)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@H](C(=O)N[C@@H](C)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CC(C)C)C(=O)N[C@H](C(=O)N[C@@H](CCCNC(=N)N)C(=O)NCC(=O)N[C@@H](CCCNC(=N)N)C(=O)NCC(=O)O)C(C)C)[C@@H](C)CC)C(=O)O", "name": "liraglutide", "provided_by": ["infores:medic"], "synonym": ["Insulin degludec + liraglutide", "LIRAGLUTIDE", "Liraglutide", "liraglutide"], "xref": ["CHEMBL.COMPOUND:CHEMBL439305", "DRUGBANK:DB06655", "PHAROS:XCC16VLWS24K", "PUBCHEM.COMPOUND:44290546", "UNII:839I73S42A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71197", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20170310", "medic_mention_id": "MEDICNE:fa92fb5b-f996-565c-8641-9f10d8b3858d", "medic_reliability": "MEDIUM", "name": "tofacitinib citrate", "provided_by": ["infores:medic"], "synonym": ["Tofacitinib Citrate Tablets", "枸橼酸托法替布片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71200", "medic_application_numbers": ["203214|208246|209738|209829|212943|213082|214264|216001|216878|218462|218668|219442|219542"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L04AF01"], "medic_earliest_approval_date": "20121106", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:04a2b2fc-9e88-5ed3-a98c-8f9a1d4a8ad3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002026"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1CCN(C(=O)CC#N)C[C@@H]1N(C)c1ncnc2[nH]ccc12.O=C(O)CC(O)(CC(=O)O)C(=O)O", "name": "tofacitinib", "provided_by": ["infores:medic"], "synonym": ["TOFACITINIB CITRATE", "Tofacitinib", "tofacitinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL221959", "DRUGBANK:DB08895", "DrugCentral:4713", "GTOPDB:5677", "PHAROS:MP4M7KJWPRGV", "PUBCHEM.COMPOUND:9926791", "UNII:87LA6FU830"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71204", "medic_mention_id": "MEDICNE:2aff922c-0a1c-5a77-901d-8b72d707b860", "medic_reliability": "EXCLUDED", "medic_smiles": "O=C(O)CCCN1CCC(O[C@@H](c2ccc(Cl)cc2)c2ccccn2)CC1", "name": "bepotastine", "provided_by": ["infores:medic"], "synonym": ["Bepotastine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201758", "DRUGBANK:DB04890", "DrugCentral:341", "PHAROS:8YZ8YFWVB2U1", "PUBCHEM.COMPOUND:25273609", "UNII:HYD2U48IAS"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71219", "medic_application_numbers": ["022465|215837|217517|217713|218231|219034|219922"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20091019", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a9cc6189-9b31-5d53-bfdd-b9b5f5f53dae", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005467"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(Nc2nccc(N(C)c3ccc4c(C)n(C)nc4c3)n2)cc1S(N)(=O)=O.Cl", "name": "pazopanib", "provided_by": ["infores:medic"], "synonym": ["PAZOPANIB HYDROCHLORIDE", "Pazopanib", "Pazopanib Tablet 200mg/400mg (additional indication)", "Pazopanib Tablets", "pazopanib"], "xref": ["CHEMBL.COMPOUND:CHEMBL477772", "DRUGBANK:DB06589", "DrugCentral:4118", "GTOPDB:5698", "PHAROS:VAD1FZTYS37A", "PUBCHEM.COMPOUND:10113978", "UNII:7RN5DR86CK"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71223", "medic_application_numbers": ["022468|206183"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["L01BA05"], "medic_earliest_approval_date": "20090924", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7503459b-d386-5600-bde8-61b4873ddf91", "medic_reliability": "HIGH", "medic_smiles": "C#CCC(Cc1cnc2nc(N)nc(N)c2n1)c1ccc(C(=O)N[C@@H](CCC(=O)O)C(=O)O)cc1", "name": "pralatrexate", "provided_by": ["infores:medic"], "synonym": ["PRALATREXATE", "Pralatrexate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201746", "DRUGBANK:DB06813", "DrugCentral:4117", "GTOPDB:6840", "PHAROS:SPPQGS51D4V2", "PUBCHEM.COMPOUND:148121", "UNII:A8Q8I19Q20"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71229", "medic_application_numbers": ["022110"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20090911", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f901d736-f4a3-5a4b-9a10-191f954fa565", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003046"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCNCCN[C@@]1(C)C[C@H](O[C@H]2[C@H](Oc3c4cc5cc3Oc3ccc(cc3Cl)[C@@H](O)[C@@H](NC(=O)[C@@H](CC(C)C)NC)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@H]5C(=O)N[C@H]3C(=O)N[C@H](C(=O)N[C@H](C(=O)O)c5cc(O)c(CNCP(=O)(O)O)c(O)c5-c5cc3ccc5O)[C@H](O)c3ccc(c(Cl)c3)O4)O[C@H](CO)[C@@H](O)[C@@H]2O)O[C@@H](C)[C@H]1O.Cl", "name": "telavancin", "provided_by": ["infores:medic"], "synonym": ["TELAVANCIN HYDROCHLORIDE", "Telavancin"], "xref": ["DRUGBANK:DB06402", "UNII:XK134822Z0"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71253", "medic_application_numbers": ["212268"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20090813", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9a339669-3bbb-5524-baba-97d4bea80124", "medic_reliability": "HIGH", "name": "asenapine", "provided_by": ["infores:medic"], "synonym": ["ASENAPINE", "ASENAPINE MALEATE", "Asenapine", "asenapine"], "xref": ["CHEMBL.COMPOUND:CHEMBL504548", "DRUGBANK:DB06216", "GTOPDB:22", "PHAROS:96LUGMSY71AA", "PUBCHEM.COMPOUND:163091", "UNII:JKZ19V908O"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71272", "medic_application_numbers": ["022350|205941|205972|205980|205994|206078"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20090101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b6265b6c-f611-5774-beb1-c1cf0cc02f4d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000475)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Cl.N#C[C@@H]1C[C@@H]2C[C@@H]2N1C(=O)[C@@H](N)C12CC3CC(CC(O)(C3)C1)C2", "name": "saxagliptin", "provided_by": ["infores:medic"], "synonym": ["SAXAGLIPTIN HYDRATE", "SAXAGLIPTIN HYDROCHLORIDE", "Saxagliptin", "Saxagliptin (as HCl) 2.5mg/ 5mg Tablets", "saxagliptin", "saxagliptin;dapagliflozin", "saxagliptin;metformin hydrochloride"], "xref": ["CHEMBL.COMPOUND:CHEMBL385517", "DRUGBANK:DB06335", "DrugCentral:4114", "GTOPDB:6316", "PHAROS:FUTJN139DA3R", "PUBCHEM.COMPOUND:11243969", "UNII:8I7IO46IVQ", "UNII:9GB927LAJW"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71415", "medic_application_numbers": ["020064|076648|076951|077066|202250|207372|208516|209225|211013|215002|217073|217357"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["J01XE01", "J01XE51"], "medic_earliest_approval_date": "19640430", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9b4289b9-5cc5-5f1f-8a82-fa43c27605a8", "medic_registration_numbers": ["MOH_RUSSIA:64/228/286"], "medic_reliability": "HIGH", "medic_smiles": "O=C1CN(/N=C/c2ccc([N+](=O)[O-])o2)C(=O)N1", "name": "nitrofurantoin", "provided_by": ["infores:medic"], "synonym": ["NITROFURANTOIN", "NITROFURANTOIN SODIUM", "NITROFURANTOIN, MACROCRYSTALLINE", "NITROFURANTOIN; NITROFURANTOIN, MACROCRYSTALLINE", "Nitrofurantoin"], "xref": ["CHEMBL.COMPOUND:CHEMBL572", "DRUGBANK:DB00698", "DrugCentral:1949", "PHAROS:6Q2MRUBQXX7J", "PUBCHEM.COMPOUND:6604200", "UNII:927AH8112L"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71416", "medic_application_numbers": ["013294"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19870910", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:441aedd5-d013-5a81-98e3-216a4923521a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004703"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ccc(N=Nc2ccccc2)c(N)n1", "name": "phenazopyridine", "provided_by": ["infores:medic"], "synonym": ["PHENAZOPYRIDINE HYDROCHLORIDE; SULFAMETHOXAZOLE", "PHENAZOPYRIDINE HYDROCHLORIDE; SULFAMETHOXAZOLE; TRIMETHOPRIM", "PHENAZOPYRIDINE HYDROCHLORIDE; SULFISOXAZOLE", "Phenazopyridine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1242", "DRUGBANK:DB01438", "DrugCentral:2120", "PHAROS:CAWG23V2NTL5", "UNII:K2J09EMJ52"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71417", "medic_application_numbers": ["016785"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:43232cc8-d0a0-526e-bfb6-7896690e06ce", "medic_registration_numbers": ["MOH_RUSSIA:П N016232/01"], "medic_reliability": "HIGH", "medic_smiles": "CNNCc1ccc(C(=O)NC(C)C)cc1.Cl", "name": "procarbazine", "provided_by": ["infores:medic"], "synonym": ["PROCARBAZINE HYDROCHLORIDE", "Procarbazine"], "xref": ["DRUGBANK:DB01168", "UNII:35S93Y190K"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:71418", "medic_application_numbers": ["011600|011601|011602|012041|012097|012104|014901|018117|019503|019798|020120|020468|020784|022048|022220|040037|040038|040039|040040|040374|040386|040467|040671|040672|040771|070730|071383|078104|080745|080750|083015|083016|083017|083380|083943|083944|084343|084908|085539|085691|085692|085825|086240|086275|086276|086277|086413|087113|087191|087192|087375|087376|087377|087385|087428|087429|087430|087797|087798|087799|087902|087912|087921|087922|087932|087990|087991|087992|088042|088090|088091|088092|088094|088095|088096|088196|088197|088198|088450|088451|088690|088691|088692|088693|088780|088781|088818|088819|088820|089129|089274|089275|089276|089595|089795|089796|089797|089798|089913|090164|090166|202374|204606|204608|205373|205592|205782|206312|206379|206786|207094|207117|207365|207550|207651|208320|208590|208763|208845|208848|208925|209535|209828|209852|210346|211315|211950|212356|212384|212400|212460|212567|213543|213559|213619|214532|214582|214615|215254|216625|218421|218601|218773"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:18cb07f4-c9b9-5bc8-b3d7-7bf4ec0f93a0", "medic_reliability": "HIGH", "name": "triamcinolone acetonide", "provided_by": ["infores:medic"], "synonym": ["TRIAMCINOLONE ACETONIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1504", "DrugCentral:2726", "GTOPDB:2867", "PHAROS:TD1BLYJC1HKM", "PUBCHEM.COMPOUND:6436", "UNII:F446C597KA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71428", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:01dd0bf0-7ad2-54b4-b691-aff434a0bb27", "medic_reliability": "MEDIUM", "name": "procarbazine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Procarbazine Hydrochloride USP"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71464", "medic_mention_id": "MEDICNE:8e8baeb7-bbbf-50cb-a01f-3c1a53d189c2", "medic_reliability": "EXCLUDED", "name": "palmitoyl ethanolamide", "provided_by": ["infores:medic"], "synonym": ["Palmitoylethanolamide"], "xref": ["DRUGBANK:DB10551"]}
{"category": ["biolink:Drug"], "id": "CHEBI:71466", "medic_mention_id": "MEDICNE:257d82a5-2e09-5d2c-8781-e91a98be640b", "medic_reliability": "EXCLUDED", "name": "oleoyl ethanolamide", "provided_by": ["infores:medic"], "synonym": ["Oleoylethanolamide"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:71941", "medic_application_numbers": ["017628|018084|073290|073308|073310|073311|073392|073393|073462|073519|073527|073588|074002|074399|074473|074729"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4368de87-13fb-5fe3-bab1-6f5222c9c02d", "medic_reliability": "HIGH", "name": "tolmetin", "provided_by": ["infores:medic"], "synonym": ["TOLMETIN SODIUM", "Tolmetin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1020", "DRUGBANK:DB00500", "DrugCentral:2699", "PHAROS:VUJQ1ZN9PFPT", "PUBCHEM.COMPOUND:5509", "UNII:D8K2JPN18B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:72289", "medic_application_numbers": ["203093"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["J05AJ02"], "medic_earliest_approval_date": "20130325", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a814f970-4ac3-5a0d-a2bb-e1b8c3daa41b", "medic_reliability": "HIGH", "medic_smiles": "COc1cc2c(cc1Cc1cccc(Cl)c1F)c(=O)c(C(=O)O)cn2[C@H](CO)C(C)C", "name": "elvitegravir", "provided_by": ["infores:medic"], "synonym": ["ELVITEGRAVIR", "Elvitegravir", "elvitegravir;cobicistat;emtricitabine;tenofovir alafenamide", "elvitegravir;cobicistat;emtricitabine;tenofovir disoproxil"], "xref": ["DRUGBANK:DB09101", "UNII:4GDQ854U53"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72291", "medic_application_numbers": ["205395|220092"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["V03AX03"], "medic_earliest_approval_date": "20120827", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:67f232e2-7364-51e2-af81-4aa1901734b4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005722"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)c1nc(CN(C)C(=O)N[C@@H](CCN2CCOCC2)C(=O)N[C@H](CC[C@H](Cc2ccccc2)NC(=O)OCc2cncs2)Cc2ccccc2)cs1", "name": "cobicistat", "provided_by": ["infores:medic"], "synonym": ["COBICISTAT", "COBICISTAT; DARUNAVIR ETHANOLATE", "COBICISTAT; DARUNAVIR; EMTRICITABINE; TENOFOVIR ALAFENAMIDE FUMARATE", "COBICISTAT; ELVITEGRAVIR; EMTRICITABINE; TENOFOVIR ALAFENAMIDE FUMARATE", "COBICISTAT; ELVITEGRAVIR; EMTRICITABINE; TENOFOVIR DISOPROXIL FUMARATE", "Cobicistat", "Cobicistat + Tenofovir alafenamide + Elvitegravir + Emtricitabine", "cobicistat"], "xref": ["CHEMBL.COMPOUND:CHEMBL2095208", "DRUGBANK:DB09065", "DrugCentral:4299", "PHAROS:V3RJF814N19T", "PUBCHEM.COMPOUND:25151504", "UNII:LW2E03M5PG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72292", "medic_application_numbers": ["204384"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20121228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7696f51e-d3de-5be1-b2cf-1d88431af7b8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002281"], "medic_reliability": "HIGH", "medic_smiles": "COc1nc2ccc(Br)cc2cc1[C@@H](c1ccccc1)[C@@](O)(CCN(C)C)c1cccc2ccccc12.O=C(O)/C=C/C(=O)O", "name": "bedaquiline", "provided_by": ["infores:medic"], "synonym": ["BEDAQUILINE FUMARATE", "Bedaquiline", "Bedaquiline Tablet 100", "bedaquiline"], "xref": ["CHEMBL.COMPOUND:CHEMBL376488", "DRUGBANK:DB08903", "PHAROS:1M491KZVZLHN", "PUBCHEM.COMPOUND:5388906", "UNII:78846I289Y"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72296", "medic_application_numbers": ["202155|209810|209845|209898|210013|210026|210066|210067|210091|210128|210152|210156|210180|210185|220073"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["B01AF02"], "medic_earliest_approval_date": "20110518", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:563e39a2-0151-54df-8be3-243499964f06", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001475"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(-n2nc(C(N)=O)c3c2C(=O)N(c2ccc(N4CCCCC4=O)cc2)CC3)cc1", "name": "apixaban", "provided_by": ["infores:medic"], "synonym": ["APIXABAN", "Apixaban", "Apixaban Tablets", "Apixaban Tablets 2.5/5mg (additional Indication)", "Apixaban Tablets 2.5mg", "apixaban"], "xref": ["CHEMBL.COMPOUND:CHEMBL231779", "DRUGBANK:DB06605", "DrugCentral:4298", "GTOPDB:6390", "PHAROS:K9R389ZL42D1", "PUBCHEM.COMPOUND:10182969", "UNII:3Z9Y7UWC1J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72297", "medic_application_numbers": ["203858"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20121221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b840eb3d-bfad-574c-99c1-158938fc48bf", "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)O.O=C(NC1CCN(CCCCC2(C(=O)NCC(F)(F)F)c3ccccc3-c3ccccc32)CC1)c1ccccc1-c1ccc(C(F)(F)F)cc1", "name": "lomitapide", "provided_by": ["infores:medic"], "synonym": ["LOMITAPIDE MESYLATE", "Lomitapide", "lomitapide"], "xref": ["CHEMBL.COMPOUND:CHEMBL354541", "DRUGBANK:DB08827", "DrugCentral:4721", "PHAROS:Q46RVBT7USP3", "PUBCHEM.COMPOUND:9853053", "UNII:82KUB0583F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:72299", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20160928", "medic_mention_id": "MEDICNE:20ccaeca-1cdb-59d8-9652-4e61e4d68491", "medic_reliability": "LOW", "name": "lomitapide mesylate", "provided_by": ["infores:medic"], "synonym": ["LOMITAPIDE MESILATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72305", "medic_application_numbers": ["203441"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["A16AX08"], "medic_earliest_approval_date": "20120830", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:588f8753-16ec-5fe2-9c22-5564a16603eb", "medic_reliability": "HIGH", "medic_smiles": "CC[C@H](C)[C@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@H](CC(=O)O)NC(=O)[C@H](CCCNC(=N)N)NC(=O)[C@H](C)NC(=O)[C@H](C)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CC(=O)O)NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](NC(=O)[C@@H](NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCSC)NC(=O)[C@H](CCC(=O)O)NC(=O)[C@H](CC(=O)O)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@H](CO)NC(=O)CNC(=O)[C@H](CC(=O)O)NC(=O)CNC(=O)[C@@H](N)Cc1c[nH]cn1)[C@@H](C)O)[C@@H](C)CC)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CC(C)C)C(=O)N[C@H](C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@H](C(=O)N[C@@H](CCCCN)C(=O)N[C@H](C(=O)N[C@H](C(=O)N[C@@H](CC(=O)O)C(=O)O)[C@@H](C)O)[C@@H](C)CC)[C@@H](C)O)[C@@H](C)CC", "name": "teduglutide", "provided_by": ["infores:medic"], "synonym": ["TEDUGLUTIDE", "Teduglutide", "teduglutide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2104987", "DRUGBANK:DB08900", "DrugCentral:4718", "PHAROS:8QCYGW9ZVYNA", "PUBCHEM.COMPOUND:16139605", "UNII:7M19191IKG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72312", "medic_application_numbers": ["203255"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["H01CB05"], "medic_earliest_approval_date": "20120424", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1446262c-7ac1-54ba-a7a0-b1efddfb54c8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002254"], "medic_reliability": "HIGH", "medic_smiles": "NCCCC[C@@H]1NC(=O)[C@@H](Cc2c[nH]c3ccccc23)NC(=O)[C@H](c2ccccc2)NC(=O)[C@@H]2C[C@@H](OC(=O)NCCN)CN2C(=O)[C@H](Cc2ccccc2)NC(=O)[C@H](Cc2ccc(OCc3ccccc3)cc2)NC1=O", "name": "pasireotide", "provided_by": ["infores:medic"], "synonym": ["PASIREOTIDE PAMOATE", "Pasireotide", "Pasireotide solution for", "pasireotide"], "xref": ["CHEMBL.COMPOUND:CHEMBL3039583", "DRUGBANK:DB06663", "DrugCentral:4329", "PHAROS:5HYS2CGBT3LG", "PUBCHEM.COMPOUND:73348210", "UNII:98H1T17066"]}
{"category": ["biolink:Drug"], "id": "CHEBI:72317", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20140321", "medic_mention_id": "MEDICNE:c1fff3c9-51b5-515b-9e81-1a531cc73458", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005558"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2nccc(Oc3ccc(NC(=O)C4(C(=O)Nc5ccc(F)cc5)CC4)cc3)c2cc1OC.O=C(O)C[C@H](O)C(=O)O", "name": "cabozantinib", "provided_by": ["infores:medic"], "synonym": ["CABOZANTINIB MALATE", "Cabozantinib", "cabozantinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105717,CHEMBL2103868", "DRUGBANK:DB08875", "DrugCentral:4715", "GTOPDB:5887", "PHAROS:LB6JCCMPSY9Z", "PUBCHEM.COMPOUND:25102847,25102846", "UNII:1C39JW444G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72319", "medic_application_numbers": ["203756|208692"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20121129", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7ccce3fe-f83c-5bc9-97e5-84eb60efb998", "medic_reliability": "HIGH", "name": "cabozantinib malate", "provided_by": ["infores:medic"], "synonym": ["CABOZANTINIB S-MALATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72322", "medic_application_numbers": ["203155|205690|206319|208413|208444"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20120912", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4d50180a-9296-5881-882c-3d407d1331fa", "medic_reliability": "HIGH", "name": "(11)C-choline", "provided_by": ["infores:medic"], "synonym": ["CHOLINE C-11"]}
{"category": ["biolink:Drug"], "id": "CHEBI:72323", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20130918", "medic_mention_id": "MEDICNE:ae06b6b1-f2be-5045-af39-407273535910", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000188)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Cn1c(=O)cc(N2CCC[C@@H](N)C2)n(Cc2ccccc2C#N)c1=O.O=C(O)c1ccccc1", "name": "alogliptin", "provided_by": ["infores:medic"], "synonym": ["Alogliptin", "Alogliptin + Metformin", "Alogliptin + Pioglitazone", "alogliptin;metformin", "alogliptin;pioglitazone"], "xref": ["CHEMBL.COMPOUND:CHEMBL376359", "DRUGBANK:DB06203", "DrugCentral:4340", "GTOPDB:6319", "PHAROS:G78FTV835CTG", "PUBCHEM.COMPOUND:11450633", "UNII:JHC049LO86"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72324", "medic_application_numbers": ["203414"], "medic_approved_authorities": ["EMA", "FDA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "usa"], "medic_earliest_approval_date": "20100416", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fc2e8054-dc8a-50bf-a186-5ad8f757ad46", "medic_reliability": "HIGH", "name": "alogliptin benzoate", "provided_by": ["infores:medic"], "synonym": ["ALOGLIPTIN BENZOATE", "ALOGLIPTIN BENZOATE; METFORMIN HYDROCHLORIDE", "ALOGLIPTIN BENZOATE; PIOGLITAZONE HYDROCHLORIDE", "Alogliptin Benzoate Tablets", "alogliptin benzoate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:724125", "medic_application_numbers": ["021415"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20040727", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b6d61813-4128-5bea-897b-30ea171a6ff9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000468"], "medic_reliability": "HIGH", "name": "methyl 5-aminolevulinate", "provided_by": ["infores:medic"], "synonym": ["METHYL AMINOLEVULINATE HYDROCHLORIDE", "Methyl aminolevulinate", "Methylaminolevulinate"], "xref": ["DRUGBANK:DB00992", "UNII:585NM85KYM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72564", "medic_application_numbers": ["021029|022277|078879|201528|201742|203490|203691|203898|203959|204159|204639|205227|206309|206413|206750|207658|210030|213328"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01AX03"], "medic_earliest_approval_date": "19990126", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:39c8f2e8-b0ad-5e02-993a-1529a331ec2a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000847"], "medic_reliability": "HIGH", "medic_smiles": "Cn1nnc2c(C(N)=O)ncn2c1=O", "name": "temozolomide", "provided_by": ["infores:medic"], "synonym": ["TEMOZOLOMIDE", "Temozolamide 5mg/20mg/100mg/250mg Capsule", "Temozolamide capsules 140mg/180mg (Addl. Strength)", "Temozolomide", "Temozolomide Capsules", "Temozolomide for Injection", "temozolomide"], "xref": ["DRUGBANK:DB00853", "UNII:YF1K15M17Y"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:72690", "medic_application_numbers": ["204026|209956|210111|210164|210236|210249|210275"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_atc_codes": ["L04AX06"], "medic_earliest_approval_date": "20130208", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e1635a3d-1e55-57b7-b6d5-f2acbfe706ce", "medic_reliability": "HIGH", "medic_smiles": "Nc1cccc2c1C(=O)N(C1CCC(=O)NC1=O)C2=O", "name": "pomalidomide", "provided_by": ["infores:medic"], "synonym": ["POMALIDOMIDE", "Pomalidomide", "pomalidomide"], "xref": ["CHEMBL.COMPOUND:CHEMBL43452", "DRUGBANK:DB08910", "DrugCentral:4746", "PHAROS:86HY57SRP723", "PUBCHEM.COMPOUND:134780", "UNII:D2UX06XLB5"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73024", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071211", "medic_mention_id": "MEDICNE:c29a029d-a430-5f4f-ba22-af71ee58cc83", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002693"], "medic_reliability": "MEDIUM", "name": "O-acetylcarnitine", "provided_by": ["infores:medic"], "synonym": ["Acetylcarnitine", "Ацетилкарнитин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73038", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_atc_codes": ["M01AH04"], "medic_earliest_approval_date": "20020322", "medic_mention_id": "MEDICNE:2d3cf539-db74-5884-bfcf-9104466c98f8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002433)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)NS(=O)(=O)c1ccc(-c2c(-c3ccccc3)noc2C)cc1", "name": "parecoxib", "provided_by": ["infores:medic"], "synonym": ["Parecoxib", "parecoxib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1206690", "DRUGBANK:DB08439", "DrugCentral:2063", "PHAROS:R5YNLQCLXPPX", "PUBCHEM.COMPOUND:119828", "UNII:9TUW81Y3CE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73228", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060512", "medic_mention_id": "MEDICNE:ac9669c9-2cb0-5363-8f95-7a7ed24251e1", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001578"], "medic_reliability": "MEDIUM", "name": "arglabin", "provided_by": ["infores:medic"], "synonym": ["Arglabin", "Арглабин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:73274", "medic_application_numbers": ["204353|205879"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20130329", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d9bbc01f-32e4-502f-b974-4ec34348657e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002977"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc([C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O)cc1Cc1ccc(-c2ccc(F)cc2)s1", "name": "canagliflozin", "provided_by": ["infores:medic"], "synonym": ["CANAGLIFLOZIN", "CANAGLIFLOZIN HYDRATE", "CANAGLIFLOZIN; METFORMIN HYDROCHLORIDE", "Canagliflozin", "Canagliflozin Tablets", "canagliflozin", "canagliflozin;metformin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103841", "DRUGBANK:DB08907", "PHAROS:VFU1M6H1Z3A7", "PUBCHEM.COMPOUND:24997615", "UNII:0SAC974Z85", "UNII:6S49DGR869"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:73275", "medic_application_numbers": ["203505|215574"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["G03XC05"], "medic_earliest_approval_date": "20130226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9eacdb30-e965-59d5-8563-ce3bcb103130", "medic_reliability": "HIGH", "medic_smiles": "OCCOc1ccc(/C(=C(/CCCl)c2ccccc2)c2ccccc2)cc1", "name": "ospemifene", "provided_by": ["infores:medic"], "synonym": ["OSPEMIFENE", "Ospemifene", "ospemifene"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105395", "DRUGBANK:DB04938", "DrugCentral:4749", "PHAROS:NT8WQY86H2HD", "PUBCHEM.COMPOUND:3036505", "UNII:B0P231ILBK"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73390", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["G03DB07"], "medic_earliest_approval_date": "19960923", "medic_mention_id": "MEDICNE:34c6adb5-e429-5888-835e-ae01acba6503", "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)[C@@]1(C)CC[C@H]2[C@@H]3CCC4=CC(=O)CCC4=C3CC[C@@]21C", "name": "promegestone", "provided_by": ["infores:medic"], "synonym": ["Promegestone"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73468", "medic_application_numbers": ["019940"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L01XX10"], "medic_earliest_approval_date": "19920904", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2d618618-b63a-5f7e-82a3-52a980871527", "medic_reliability": "HIGH", "medic_smiles": "C[C@H](Cc1ccc(O)c(O)c1)[C@@H](C)Cc1ccc(O)c(O)c1", "name": "masoprocol", "provided_by": ["infores:medic"], "synonym": ["MASOPROCOL"], "xref": ["DrugCentral:1637", "PHAROS:NPKM56RHNKN7", "UNII:7BO8G1BYQU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73512", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061201", "medic_mention_id": "MEDICNE:7b5cd992-76c6-5c21-83a0-36ac73c882ab", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007310"], "medic_reliability": "LOW", "name": "Glu-Trp", "provided_by": ["infores:medic"], "synonym": ["Alpha-glutamyl-tryptophan", "Альфа-глутамил-триптофан"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:73727", "medic_application_numbers": ["204781|210016|215304|218073"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130320", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1f6a5ec0-041e-51aa-9fc6-ca6df1237e2a", "medic_reliability": "HIGH", "name": "gadoterate meglumine", "provided_by": ["infores:medic"], "synonym": ["GADOTERATE MEGLUMINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73732", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060210", "medic_mention_id": "MEDICNE:a2a5e7d7-815c-557f-b48e-2c08e5984812", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006111"], "medic_reliability": "MEDIUM", "name": "gadoteric acid", "provided_by": ["infores:medic"], "synonym": ["Gadoteric acid", "Гадотеровая кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73788", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19990403", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:2f975954-48c9-5ab6-a320-a09be5bdc379", "medic_reliability": "MEDIUM", "name": "Ala-Gln", "provided_by": ["infores:medic"], "synonym": ["Alanylglutamine Injection", "丙氨酰谷氨酰胺注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:73927", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20110121", "medic_mention_id": "MEDICNE:17bb1879-2a42-536e-93b2-b29546042a40", "medic_reliability": "HIGH", "medic_smiles": "C=C1/C(=C\\C=C2/CCC[C@]3(C)[C@@H]([C@H](C)CCCC(C)(C)O)CC[C@@H]23)C[C@@H](O)[C@@H](OCCCO)[C@@H]1O", "name": "1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)vitamin D3", "provided_by": ["infores:medic"], "synonym": ["ELDECALCITOL"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297608", "DrugCentral:5169", "GTOPDB:2783", "PHAROS:UTYAZWAWL8XU", "PUBCHEM.COMPOUND:6918141", "UNII:I2JP8UE90H"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:747369", "medic_stub": true, "name": "islatravir", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:748025", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080731", "medic_mention_id": "MEDICNE:af54c118-b0e0-5db4-a342-80f1fe8c9a54", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006081"], "medic_reliability": "MEDIUM", "name": "dimethindene", "provided_by": ["infores:medic"], "synonym": ["Dimethindene + Phenylephrine", "Диметинден+Фенилэфрин"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:74803", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b6d645cd-88cc-58fe-a248-1cc3200e48a3", "medic_reliability": "HIGH", "name": "furaltadone", "provided_by": ["infores:medic"], "synonym": ["Furaltadone", "Furaltadone 20% w/w Powder (For Veterinary)"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:748033", "medic_stub": true, "name": "chlorcyclizine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748035", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20000306", "medic_mention_id": "MEDICNE:a0fd051f-e7a7-5cfa-83cb-99ef2d1f88f7", "medic_reliability": "MEDIUM", "name": "alendronate sodium", "provided_by": ["infores:medic"], "synonym": ["Alendronate Sodium 5mg", "Alendronate Sodium Tablets", "阿仑膦酸钠片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748068", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120215", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:5e184af1-c5ed-5f5b-9b14-1cb29d527dcc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001509"], "medic_reliability": "LOW", "name": "iodoantipyrine", "provided_by": ["infores:medic"], "synonym": ["Iodopyrone", "Йодопирон"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748072", "medic_mention_id": "MEDICNE:ca89eaac-bc47-51e2-8de2-9f280e6506f5", "medic_reliability": "EXCLUDED", "name": "celiprolol", "provided_by": ["infores:medic"], "synonym": ["Celiprolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL27810", "DRUGBANK:DB04846", "DrugCentral:569", "PHAROS:HFQ8F3CMD68T", "PUBCHEM.COMPOUND:2663", "UNII:DRB57K47QC"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748080", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060728", "medic_mention_id": "MEDICNE:7e6d4bed-98c4-5394-b32e-4d96a52dec02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000027"], "medic_reliability": "HIGH", "name": "mebeverine", "provided_by": ["infores:medic"], "synonym": ["Mebeverine", "Mebeverine + Simethicone"], "xref": ["DRUGBANK:DB12554"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748104", "medic_application_numbers": ["060593"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:036ca715-c942-50c7-bc16-6a138a58b148", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000921"], "medic_reliability": "HIGH", "name": "cycloserine", "provided_by": ["infores:medic"], "synonym": ["CYCLOSERINE", "Cycloserine", "Cycloserine + [Pyridoxine]", "Cycloserine Capsules"], "xref": ["DRUGBANK:DB00260", "UNII:95IK5KI84Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748204", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20080324", "medic_mention_id": "MEDICNE:6126fb75-845c-5335-809b-5fda851e3a65", "medic_reliability": "MEDIUM", "name": "parecoxib sodium", "provided_by": ["infores:medic"], "synonym": ["Parecoxib Sodium for Injection", "注射用帕瑞昔布钠"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748218", "medic_application_numbers": ["012665|089011|089395|089515|089565"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:63a6e98c-d260-5321-bd4e-5b26cc7263e8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006831)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "vinblastine", "provided_by": ["infores:medic"], "synonym": ["VINBLASTINE SULFATE", "Vinblastin", "Vinblastine"], "xref": ["CHEMBL.COMPOUND:CHEMBL159", "DRUGBANK:DB00570", "DrugCentral:2823", "GTOPDB:6851", "PHAROS:W4ZWV9F2WUZZ", "PUBCHEM.COMPOUND:13342", "UNII:5V9KLZ54CY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748220", "medic_application_numbers": ["050573|050574|050625|050715|050716|050790|065003|065004|065017|065025|065040|065044|065054|065078|065110|065133|065151|065167|203880|205894|207606|209064|209811|210721|210913|211909|211943|214965|216046|217469|219049"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "19831114", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9afba22d-3e7f-5fca-bdd5-e1ee890eb81f", "medic_reliability": "HIGH", "name": "cyclosporine", "provided_by": ["infores:medic"], "synonym": ["CYCLOSPORINE", "Cyclosporin 10mg Capsule"], "xref": ["CHEMBL.COMPOUND:CHEMBL160", "DrugCentral:760", "PHAROS:MVAGBHGY6RMM", "PUBCHEM.COMPOUND:5284373", "UNII:83HN0GTJ6D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748229", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220516", "medic_mention_id": "MEDICNE:0eeb8d3c-f900-519e-a8ee-0849a222cf7f", "medic_reliability": "MEDIUM", "name": "butorphanol tartrate", "provided_by": ["infores:medic"], "synonym": ["Butorphanol Tartrate Injection", "酒石酸布托啡诺注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748253", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20201021", "medic_mention_id": "MEDICNE:2a739113-26fe-5e50-ae45-e8048b6779ab", "medic_reliability": "MEDIUM", "name": "dantrolene sodium", "provided_by": ["infores:medic"], "synonym": ["Dantrolene Sodium for Injection", "注射用丹曲林钠"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:748283", "medic_stub": true, "name": "carbamoylcholine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748292", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19960219", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c6e44456-e33b-5b4a-82fb-80aa89b44c95", "medic_reliability": "MEDIUM", "name": "nitroscanate", "provided_by": ["infores:medic"], "synonym": ["Nitroscanate 100mg/500mg Tablet (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748315", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19970623", "medic_mention_id": "MEDICNE:27c48dfd-b551-51c0-b3fb-bb5a8e04705c", "medic_reliability": "MEDIUM", "name": "losartan potassium", "provided_by": ["infores:medic"], "synonym": ["Losartan Potassium 25mcg + Amlodipine (as besylate) 5mg tablets. (Additional Strength)", "Losartan Potassium 25mg/50mg/100mg Film Coated Tablet", "Losartan Potassium Tablets", "氯沙坦钾片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748327", "medic_application_numbers": ["211964"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20210402", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e042b97c-4b42-53ab-b386-5ec0e9a86c8a", "medic_reliability": "HIGH", "name": "viloxazine", "provided_by": ["infores:medic"], "synonym": ["VILOXAZINE HYDROCHLORIDE", "Viloxazine"], "xref": ["CHEMBL.COMPOUND:CHEMBL251072,CHEMBL306700", "DRUGBANK:DB09185", "DrugCentral:2820", "PHAROS:K2B9QWMDGS2K", "PUBCHEM.COMPOUND:12226598,5666", "UNII:5I5Y2789ZF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748386", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:3a1d0316-cc9c-5a42-9c2f-72e2c4531dca", "medic_reliability": "HIGH", "name": "pamabrom", "provided_by": ["infores:medic"], "synonym": ["Pamabrom", "Pamabrom 50mg Tablet"], "xref": ["DRUGBANK:DBSALT002688"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748399", "medic_application_numbers": ["020971|022466|079138|201750|201751"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5c17b447-6f0d-5e4e-8a5a-5412b97f4161", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001074"], "medic_reliability": "HIGH", "name": "articaine", "provided_by": ["infores:medic"], "synonym": ["ARTICAINE HYDROCHLORIDE", "ARTICAINE HYDROCHLORIDE; EPINEPHRINE BITARTRATE", "Articaine", "Articaine Hydrochloride", "Articaine+Epinephrine", "Articaine+[Epinephrine]"], "xref": ["CHEMBL.COMPOUND:CHEMBL1093", "DRUGBANK:DB09009", "DrugCentral:3070", "PHAROS:72PK72R7VZN7", "PUBCHEM.COMPOUND:32170", "UNII:D3SQ406G9X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748425", "medic_application_numbers": ["204150|204683"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20080229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0e8a2a8c-d533-580b-94b8-8d5c15673c41", "medic_reliability": "HIGH", "name": "desvenlafaxine", "provided_by": ["infores:medic"], "synonym": ["DESVENLAFAXINE", "DESVENLAFAXINE FUMARATE", "DESVENLAFAXINE SUCCINATE", "Desvenlafaxine", "Desvenlafaxine (as Succinate) ER Tablets 50mg/100mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1118", "DRUGBANK:DB06700", "DrugCentral:4380", "GTOPDB:7158", "PHAROS:ZXZGA28FC1D5", "PUBCHEM.COMPOUND:125017", "UNII:NG99554ANW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748522", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061201", "medic_mention_id": "MEDICNE:fa5b37ed-f050-5be2-9901-acbd711dea61", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002313"], "medic_reliability": "LOW", "name": "pheniramine", "provided_by": ["infores:medic"], "synonym": ["Feniramine", "Фенирамин"], "xref": ["CHEMBL.COMPOUND:CHEMBL1193", "DrugCentral:2132", "PHAROS:V4J1TM2THRGJ", "PUBCHEM.COMPOUND:4761", "UNII:134FM9ZZ6M"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748533", "medic_application_numbers": ["009078"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e6c6e178-0f83-5068-b507-b32d85539ec9", "medic_reliability": "HIGH", "name": "ethopropazine", "provided_by": ["infores:medic"], "synonym": ["ETHOPROPAZINE HYDROCHLORIDE"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:748569", "medic_stub": true, "name": "fluoride ion f-18", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748576", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080211", "medic_mention_id": "MEDICNE:4e1c9536-b606-566c-aec3-e65aa4fbdf0b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004733"], "medic_reliability": "MEDIUM", "name": "hexetidine", "provided_by": ["infores:medic"], "synonym": ["Hexetidine", "Гексэтидин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748590", "medic_application_numbers": ["086576"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a4edb82c-5a89-5ad6-9ae9-c385d57ea374", "medic_reliability": "HIGH", "name": "tetrahydrozoline", "provided_by": ["infores:medic"], "synonym": ["TETRAHYDROZOLINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200413", "DrugCentral:3591", "PHAROS:89MZKKT49QRT", "PUBCHEM.COMPOUND:657258", "UNII:S9U025Y077"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748623", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:ae33af5e-3d74-5019-b169-27672beccafc", "medic_reliability": "HIGH", "name": "chlordantoin", "provided_by": ["infores:medic"], "synonym": ["Chlordantoin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748655", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20211207", "medic_mention_id": "MEDICNE:65a1a6c9-d04a-5891-aaa2-9480e6d133ef", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007663"], "medic_reliability": "MEDIUM", "name": "polmacoxib", "provided_by": ["infores:medic"], "synonym": ["Polmacoxib", "Полмакоксиб"], "xref": ["CHEMBL.COMPOUND:CHEMBL166863", "DrugCentral:5240", "PHAROS:KNAP6JD4X9L2", "PUBCHEM.COMPOUND:9841854", "UNII:IJ34D6YPAO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748663", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20040805", "medic_mention_id": "MEDICNE:e29ce9b9-40b8-53ce-b05e-450a7fbf2ada", "medic_reliability": "MEDIUM", "name": "vardenafil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Vardenafil Hydrochloride Orally Disintegrating Tablets", "Vardenafil Hydrochloride Tablets", "盐酸伐地那非片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748675", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20170619", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:4cbdbe81-2b6d-5fb2-85c6-2bfd55e38d8b", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001663"], "medic_reliability": "MEDIUM", "name": "silver nitrate", "provided_by": ["infores:medic"], "synonym": ["Silver nitrate", "Серебра нитрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748711", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071228", "medic_mention_id": "MEDICNE:d9e8698c-358a-5636-a5fa-c722be45a1fa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002527"], "medic_reliability": "HIGH", "name": "trimebutine", "provided_by": ["infores:medic"], "synonym": ["Trimebutine"], "xref": ["DRUGBANK:DB09089"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748720", "medic_application_numbers": ["214662|219485"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20210929", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9383edc6-6ea8-52ca-9252-97afa39cd1c8", "medic_reliability": "HIGH", "name": "maralixibat", "provided_by": ["infores:medic"], "synonym": ["MARALIXIBAT CHLORIDE", "Maralixibat", "maralixibat chloride"], "xref": ["DRUGBANK:DB16226", "UNII:UYB6UOF69L"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748775", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19711231", "medic_mention_id": "MEDICNE:c103018f-b6eb-5560-9f1e-699f1df0cdee", "medic_registration_numbers": ["MOH_RUSSIA:71/946/34"], "medic_reliability": "MEDIUM", "name": "amithiozone", "provided_by": ["infores:medic"], "synonym": ["Thioacetazone", "Тиоацетазон"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748780", "medic_application_numbers": ["212862"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "20190814", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4b50875c-63a6-5ef2-a268-6f9563d99d8d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007880)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "pretomanid", "provided_by": ["infores:medic"], "synonym": ["PRETOMANID", "Pretomanid", "Pretomanid bulk and Pretomanid tablets 200mg", "pretomanid"], "xref": ["DRUGBANK:DB05154"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748784", "medic_mention_id": "MEDICNE:ff5eee41-aebb-5a4f-adbc-9aa5fb36184a", "medic_reliability": "EXCLUDED", "name": "seladelpar", "provided_by": ["infores:medic"], "synonym": ["Seladelpar"], "xref": ["CHEMBL.COMPOUND:CHEMBL230158", "DRUGBANK:DB12390", "PHAROS:ZTLWC7SM8K2M", "PUBCHEM.COMPOUND:11236126", "UNII:7C00L34NB9"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748790", "medic_application_numbers": ["021773|022200|206697|209210"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20050428", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e95f4354-c9ef-505b-b1b4-5e7662310f83", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004205"], "medic_reliability": "HIGH", "name": "exenatide", "provided_by": ["infores:medic"], "synonym": ["EXENATIDE", "EXENATIDE SYNTHETIC", "Exenatide", "Exenatide 2 mg powder and solvent for prolonged release suspension for injection in a prefilled pen (s.c. Injection) (Additional strength)", "Exenatide injection (Each 2ml vial contains- Exenatide 5mcg/10mcg per 0.2ml ) (Additional Strength)", "exenatide"], "xref": ["CHEMBL.COMPOUND:CHEMBL414357", "DRUGBANK:DB01276", "DrugCentral:1123", "PHAROS:CBVGV62HZTDC", "PUBCHEM.COMPOUND:16157882", "UNII:9P1872D4OL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7488", "medic_application_numbers": ["050514"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["A01AB10", "A07AA03", "D01AA02", "G01AA02", "S01AA10"], "medic_earliest_approval_date": "19710101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7763ec0f-07e2-552a-8019-1767561fddea", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000411"], "medic_reliability": "HIGH", "medic_smiles": "C[C@@H]1C/C=C/C=C/C=C/C=C/[C@H](O[C@@H]2O[C@H](C)[C@@H](O)[C@H](N)[C@@H]2O)C[C@@H]2O[C@](O)(C[C@@H](O)C[C@H]3O[C@@H]3/C=C/C(=O)O1)C[C@H](O)[C@H]2C(=O)O", "name": "natamycin", "provided_by": ["infores:medic"], "synonym": ["Hydrocortisone + Natamycin + Neomycin", "Hydrocortisone + Neomycin + Natamycin", "Lactulose + Natamycin", "NATAMYCIN", "Natamycin", "Natamycin 2% Cream"], "xref": ["DRUGBANK:DB00826", "UNII:8O0C852CPO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748819", "medic_application_numbers": ["012892"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:60268abe-1e58-5fe0-aebf-5e4675ee7792", "medic_reliability": "HIGH", "name": "uracil mustard", "provided_by": ["infores:medic"], "synonym": ["URACIL MUSTARD"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:748835", "medic_application_numbers": ["022029"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20080220", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:c1f28279-5096-55b1-8af4-c171cbea8587", "medic_registration_numbers": ["MOH_RUSSIA:Р N003257/01"], "medic_reliability": "HIGH", "name": "menthol", "provided_by": ["infores:medic"], "synonym": ["MENTHOL; METHYL SALICYLATE", "Menthol + Eucalyptus Oil"], "xref": ["UNII:L7T10EIP3A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748844", "medic_application_numbers": ["050518"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b586f57a-cf32-5543-9931-30f55ef04546", "medic_reliability": "HIGH", "name": "meclocycline sulfosalicylate", "provided_by": ["infores:medic"], "synonym": ["MECLOCYCLINE SULFOSALICYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748860", "medic_application_numbers": ["000004"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a3fc3573-e2ce-5415-b354-b1e50f321d7a", "medic_reliability": "HIGH", "name": "hydroxyamphetamine", "provided_by": ["infores:medic"], "synonym": ["HYDROXYAMPHETAMINE HYDROBROMIDE", "HYDROXYAMPHETAMINE HYDROBROMIDE; TROPICAMIDE", "Hydroxyamphetamine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1546", "DRUGBANK:DB09352", "DrugCentral:1394", "PHAROS:WFXYHQVQ9R3W", "PUBCHEM.COMPOUND:3651", "UNII:FQR280JW2N"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748881", "medic_application_numbers": ["018960|212071|216113|217287|217626"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19860626", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5e7774da-8bf8-59c6-b7b4-0cd9e8701717", "medic_reliability": "HIGH", "name": "cupric chloride", "provided_by": ["infores:medic"], "synonym": ["CUPRIC CHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748891", "medic_application_numbers": ["006044"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7009586f-76ec-54d9-82a4-79a0370ebc0c", "medic_reliability": "HIGH", "name": "sulfoxone", "provided_by": ["infores:medic"], "synonym": ["SULFOXONE SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748901", "medic_application_numbers": ["050544"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19830228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e83a1eb8-d80d-505d-a099-2b30768a616d", "medic_reliability": "HIGH", "name": "netilmicin", "provided_by": ["infores:medic"], "synonym": ["NETILMICIN SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748914", "medic_application_numbers": ["050435"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:59fbd789-dbc3-5746-9c8c-b63c8c729d3d", "medic_reliability": "HIGH", "name": "carbenicillin indanyl", "provided_by": ["infores:medic"], "synonym": ["CARBENICILLIN INDANYL SODIUM"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:748959", "medic_stub": true, "name": "eucalyptol", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748977", "medic_approved_authorities": ["CDSCO", "PMDA"], "medic_approved_jurisdictions": ["india", "japan"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:26c96746-4bb8-5055-b0cf-527a9f26d57d", "medic_reliability": "HIGH", "name": "spiramycin", "provided_by": ["infores:medic"], "synonym": ["SPIRAMYCIN", "Spiramycin Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:748989", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20241220", "medic_mention_id": "MEDICNE:254a93ba-7948-542f-b607-b96cc62ebaee", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008196)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "floretyrosine f18", "provided_by": ["infores:medic"], "synonym": ["Fluoroethyl-L-tyrosine (18F)", "Фторэтил-L-тирозин (18F)"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:74899", "medic_application_numbers": ["022051|205625"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20080111", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:43936b2c-59aa-5dc8-8150-78bbbaf63240", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003295)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "fluticasone furoate", "provided_by": ["infores:medic"], "synonym": ["FLUTICASONE FUROATE", "FLUTICASONE FUROATE; UMECLIDINIUM BROMIDE; VILANTEROL TRIFENATATE", "FLUTICASONE FUROATE; VILANTEROL TRIFENATATE", "Fluticasone Furoate Nasal Spray", "Fluticasone furoate", "fluticasone furoate", "fluticasone furoate;umeclidinium;vilanterol", "fluticasone furoate;vilanterol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1676", "DrugCentral:4554", "PHAROS:1DR8DSQNL55C", "PUBCHEM.COMPOUND:9854489", "UNII:JS86977WNV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:748997", "medic_application_numbers": ["008107|018342|018459|040056|040147|040174|040258|040262|040286|040332|040335|040338|040347|070480|071104|071198|071199|071598|071600|071962|072733|072734|072735|072736|073099|073101|074544|075327|081224|081277|081278|087439|088939|089352|089353|089384|089465|089628|089717|089833|089834|089915|200753|200855|203800|207226|207241|209110|210917|211132|213929|216590|217021|218200|220406"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:855ea787-7d64-5a1c-b6b9-e7acc1d0f662", "medic_reliability": "HIGH", "name": "leucovorin", "provided_by": ["infores:medic"], "synonym": ["LEUCOVORIN CALCIUM"], "xref": ["UNII:Q573I9DVLP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749006", "medic_application_numbers": ["215596"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20211123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:26625a1a-5308-5180-a5f7-03adadd355e9", "medic_reliability": "HIGH", "name": "maribavir", "provided_by": ["infores:medic"], "synonym": ["MARIBAVIR", "Maribavir", "maribavir"], "xref": ["DRUGBANK:DB06234"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749010", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20230216", "medic_mention_id": "MEDICNE:8d5875d2-3245-5345-818e-42988ff5cec3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008750"], "medic_reliability": "MEDIUM", "name": "ro-0622", "provided_by": ["infores:medic"], "synonym": ["Azvudin", "Азвудин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749015", "medic_mention_id": "MEDICNE:ac81a273-7f54-5616-bf02-4ba40109fc55", "medic_reliability": "EXCLUDED", "name": "cytisinicline", "provided_by": ["infores:medic"], "synonym": ["Cytisinicline"], "xref": ["CHEMBL.COMPOUND:CHEMBL497939", "DRUGBANK:DB09028", "DrugCentral:5217", "PHAROS:1Y6R8ZTNMMC7", "PUBCHEM.COMPOUND:10235", "UNII:53S5U404NU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749017", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19950728", "medic_mention_id": "MEDICNE:c41df7a7-6ef9-5abf-8079-db3805f4cc9b", "medic_reliability": "MEDIUM", "name": "hydroxychloroquine sulfate", "provided_by": ["infores:medic"], "synonym": ["Hydroxychloroquine Sulfate Tablets", "Hydroxychloroquine Sulphate (Additional indication )", "Hydroxychloroquine Sulphate Tablets", "Hydroxychloroquine Sulphate Tablets (addl. Indication)", "硫酸羟氯喹片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749044", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240611", "medic_mention_id": "MEDICNE:83b9cd67-7371-5f45-87c4-19170a1467cd", "medic_reliability": "MEDIUM", "name": "isoproterenol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Isoprenaline Hydrochloride Injection", "盐酸异丙肾上腺素注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749064", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210222", "medic_mention_id": "MEDICNE:4aa82ce4-ba98-593e-bd9a-da355ab76157", "medic_reliability": "MEDIUM", "name": "vinorelbine tartrate", "provided_by": ["infores:medic"], "synonym": ["Vinorelbine Tartrate Injection", "酒石酸长春瑞滨注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749082", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20140822", "medic_mention_id": "MEDICNE:1cc3435d-bf3f-5a30-9ef3-18517b837a0c", "medic_reliability": "MEDIUM", "name": "flutemetamol", "provided_by": ["infores:medic"], "synonym": ["FLUTEMETAMOL (18F)", "flutemetamol (18F)"], "xref": ["CHEMBL.COMPOUND:CHEMBL579205", "PHAROS:9TCAFJQJ88PU", "PUBCHEM.COMPOUND:10107393"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749113", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20211109", "medic_mention_id": "MEDICNE:606287f7-c16f-56b4-a105-1fc137542cf4", "medic_reliability": "LOW", "name": "daxalipram", "provided_by": ["infores:medic"], "synonym": ["Mesopam Injection", "美索巴莫注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749126", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080402", "medic_mention_id": "MEDICNE:7001d76d-9b57-5b85-8d5b-868673484968", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003131"], "medic_reliability": "MEDIUM", "name": "tolperisone", "provided_by": ["infores:medic"], "synonym": ["Tolperisone", "Tolperisone + Lidocaine", "Tolperisone+[Lidocaine]", "Толперизон"], "xref": ["CHEMBL.COMPOUND:CHEMBL1076211", "PHAROS:R9UU6S13KSBP", "PUBCHEM.COMPOUND:5511"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749151", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20010122", "medic_mention_id": "MEDICNE:302692d8-5314-5dcf-bc33-ffcc7e78bc44", "medic_reliability": "MEDIUM", "name": "clopidogrel bisulfate", "provided_by": ["infores:medic"], "synonym": ["Clopidogrel Bisulfate Tablets", "硫酸氢氯吡格雷片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749177", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060525", "medic_mention_id": "MEDICNE:5ababd6a-7197-583e-9f5f-f8e7d579f003", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004895)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "miristalkonium ion", "provided_by": ["infores:medic"], "synonym": ["Myristalkonium chloride", "Миристалкония хлорид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7492", "medic_application_numbers": ["019660|020750|021009|090638"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19921230", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c5ad0fac-db0a-537f-a2b7-9a7d133b8737", "medic_registration_numbers": ["MOH_RUSSIA:П N015676/01"], "medic_reliability": "HIGH", "name": "nedocromil", "provided_by": ["infores:medic"], "synonym": ["NEDOCROMIL SODIUM", "Nedocromil"], "xref": ["DRUGBANK:DB00716"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749216", "medic_mention_id": "MEDICNE:ac3017e6-5fa3-5f54-b851-6866737e52d9", "medic_reliability": "EXCLUDED", "name": "isoxsuprine", "provided_by": ["infores:medic"], "synonym": ["Isoxsuprine"], "xref": ["DRUGBANK:DB08941"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749217", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:b46a3c81-be74-5b66-bfc6-12e43e35e511", "medic_reliability": "MEDIUM", "name": "halofuginone", "provided_by": ["infores:medic"], "synonym": ["Halofuginone (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749220", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20050831", "medic_mention_id": "MEDICNE:d21fe1d9-4322-570c-aec5-43a0075a67c4", "medic_reliability": "MEDIUM", "name": "escitalopram oxalate", "provided_by": ["infores:medic"], "synonym": ["Escitalopram Oxalate Tablets", "草酸艾司西酞普兰片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749221", "medic_application_numbers": ["017538|017680|019039"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6fca4cfc-c47f-556e-b1c0-16915f343f4d", "medic_reliability": "HIGH", "name": "technetium tc 99m pyrophosphate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M PYROPHOSPHATE KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749223", "medic_application_numbers": ["080516"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:875acc90-35bb-506e-9a5d-ffee1e3cc9b8", "medic_reliability": "HIGH", "name": "sodium succinate", "provided_by": ["infores:medic"], "synonym": ["SODIUM SUCCINATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749228", "medic_mention_id": "MEDICNE:968cbe3f-986c-5694-8b8e-15f74e09533d", "medic_reliability": "EXCLUDED", "name": "sodium phenylacetate", "provided_by": ["infores:medic"], "synonym": ["Sodium phenylacetate"], "xref": ["DRUGBANK:DBSALT001277"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749230", "medic_application_numbers": ["011522|021303|022063|040422|040439|040440|040444|040456|040472|040480|076536|076852|077302|077488|202424|205401|206159|206340|206721|207340|207388|209799|210080|210293|210651|210754|210876|211352|211546|211547|211715|211876|212037|213111|213709|214347|214403|214777|214959|215565|215771|215997|217027|217787"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fb5f3b4a-517f-5abc-9549-e16da71d6c95", "medic_reliability": "HIGH", "name": "amphetamine aspartate", "provided_by": ["infores:medic"], "synonym": ["AMPHETAMINE ASPARTATE; AMPHETAMINE SULFATE; DEXTROAMPHETAMINE SACCHARATE; DEXTROAMPHETAMINE SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749234", "medic_application_numbers": ["083563|083564"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d0af7a6e-dfdb-5e90-a0b9-4710f6722f0a", "medic_reliability": "HIGH", "name": "amphetamine adipate", "provided_by": ["infores:medic"], "synonym": ["AMPHETAMINE ADIPATE; AMPHETAMINE SULFATE; DEXTROAMPHETAMINE ADIPATE; DEXTROAMPHETAMINE SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749236", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230911", "medic_mention_id": "MEDICNE:6e243d46-5633-5b4a-9d4a-ed0324a05886", "medic_reliability": "MEDIUM", "name": "bupivacaine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bupivacaine Hydrochloride Injection", "盐酸布比卡因注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749238", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19930519", "medic_mention_id": "MEDICNE:531fd2a3-c44d-5cbd-a636-885802c4c73c", "medic_reliability": "MEDIUM", "name": "amlodipine besylate", "provided_by": ["infores:medic"], "synonym": ["Amlodipine Besylate 5mg/10mg/2.5mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749239", "medic_application_numbers": ["018321"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0da24c97-38d6-57a7-865d-f1453fa3960f", "medic_reliability": "HIGH", "name": "technetium tc 99m oxidronate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M OXIDRONATE KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749240", "medic_application_numbers": ["018963|078242"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19870121", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:52086d30-c0d5-51c0-87b5-bf920ba73e7c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010855)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "technetium tc 99m mebrofenin", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M MEBROFENIN KIT", "Technetium (99mTc) mebrofenin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749241", "medic_application_numbers": ["021751"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20040811", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c765e31e-7d86-53d9-ba98-3e6a053eb06a", "medic_reliability": "HIGH", "name": "pentetate zinc trisodium", "provided_by": ["infores:medic"], "synonym": ["PENTETATE ZINC TRISODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749244", "medic_application_numbers": ["009268|086742|087835|087863|087866|088242|088243"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:054c6738-020f-5dc8-b586-e73e369a6ece", "medic_reliability": "HIGH", "name": "oxtriphylline", "provided_by": ["infores:medic"], "synonym": ["OXTRIPHYLLINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749246", "medic_application_numbers": ["018289"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19841228", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:83ea6086-7aeb-5c0f-9c1a-6c77a5d4d62b", "medic_reliability": "HIGH", "name": "iodohippurate sodium i 123", "provided_by": ["infores:medic"], "synonym": ["IODOHIPPURATE SODIUM I-123"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749250", "medic_application_numbers": ["019044|202586"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19851224", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b60ff295-97d1-5bee-b405-a4b7ddc9d657", "medic_reliability": "HIGH", "name": "indium in 111 oxyquinoline", "provided_by": ["infores:medic"], "synonym": ["INDIUM IN-111 OXYQUINOLINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749251", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20051213", "medic_mention_id": "MEDICNE:a193b41f-7eb0-5fa5-9a1f-037d7dd7301f", "medic_reliability": "MEDIUM", "name": "valganciclovir hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Valganciclovir Hydrochloride Tablets", "盐酸缬更昔洛韦片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749254", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20070403", "medic_mention_id": "MEDICNE:a16a6c33-8972-59d1-9648-1485d9730f08", "medic_reliability": "MEDIUM", "name": "esomeprazole sodium", "provided_by": ["infores:medic"], "synonym": ["Esomeprazole Sodium for Injection", "注射用艾司奥美拉唑钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749258", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960115", "medic_mention_id": "MEDICNE:72bcc9fb-5379-5e7d-bd25-51514745105c", "medic_reliability": "MEDIUM", "name": "octreotide acetate", "provided_by": ["infores:medic"], "synonym": ["Octreotide Acetate Injection", "醋酸奥曲肽注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749262", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19960424", "medic_mention_id": "MEDICNE:70e08020-9ba0-5b74-8d6c-41204880cd34", "medic_reliability": "MEDIUM", "name": "goserelin acetate", "provided_by": ["infores:medic"], "synonym": ["Goserelin acetate 3.6mg Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749264", "medic_application_numbers": ["018905"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19850726", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bdfb101a-e04e-5e7e-85ae-b7ae71efda0a", "medic_reliability": "HIGH", "name": "ioxaglate meglumine", "provided_by": ["infores:medic"], "synonym": ["IOXAGLATE MEGLUMINE; IOXAGLATE SODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749266", "medic_application_numbers": ["018961|019271|218538"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19860626", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7894ba41-68d8-5f57-b788-d324189bb213", "medic_reliability": "HIGH", "name": "chromic chloride", "provided_by": ["infores:medic"], "synonym": ["CHROMIC CHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749268", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200225", "medic_mention_id": "MEDICNE:f3bd8fdf-6c27-54dc-9bdd-a7343867553d", "medic_reliability": "LOW", "name": "alfentanil hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Afentanil Hydrochloride Injection", "盐酸阿芬太尼注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749269", "medic_application_numbers": ["017806|018110|018150|018548|075569|077698"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5b2d9af6-ca4a-5fa6-9514-4703dc3d8b45", "medic_reliability": "HIGH", "name": "thallous chloride tl 201", "provided_by": ["infores:medic"], "synonym": ["THALLOUS CHLORIDE TL-201"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749275", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19950601", "medic_mention_id": "MEDICNE:fe8b8373-ad30-5d87-ba7a-cfee6ca3cb50", "medic_reliability": "MEDIUM", "name": "desmopressin acetate", "provided_by": ["infores:medic"], "synonym": ["Desmopressin Acetate Injection", "Desmopressin Acetate Tablets", "Desmopressin Acetate tablet 0.1/0.2 mg", "醋酸去氨加压素注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749277", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071119", "medic_mention_id": "MEDICNE:a1401473-c15a-545b-8b90-4ef859c6b52f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001689"], "medic_reliability": "MEDIUM", "name": "lactic acid", "provided_by": ["infores:medic"], "synonym": ["Lactic Acid + Salicylic Acid", "Lactic acid", "Молочная кислота"], "xref": ["UNII:33X04XA5AT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749278", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20090718", "medic_mention_id": "MEDICNE:3ed1c7ff-b00d-5491-8db0-cb1b8358c868", "medic_reliability": "MEDIUM", "name": "caffeine citrate", "provided_by": ["infores:medic"], "synonym": ["Caffeine Citrate 20mg / ml (equivalent to 10mg of Caffeine base) Oral Solution (Addl. Dosage form)", "Caffeine Citrate Injection", "枸橼酸咖啡因注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749279", "medic_application_numbers": ["021357|021358"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "20041123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:36301737-159b-5ac5-a0dd-2f6e469e33e7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002084"], "medic_reliability": "HIGH", "name": "gadobenate dimeglumine", "provided_by": ["infores:medic"], "synonym": ["GADOBENATE DIMEGLUMINE", "Gadobenate dimeglumine IV Injection (Gadobenate dimuglimine 529mg equivalent to Gadobenate acid 334mg + Meglumine 195 mg) (Additional Indication)", "Gadobenic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749280", "medic_application_numbers": ["006333|085148"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5ad0141a-52e9-548c-b764-6d3e8771ff24", "medic_reliability": "HIGH", "name": "theophylline sodium glycinate", "provided_by": ["infores:medic"], "synonym": ["THEOPHYLLINE SODIUM GLYCINATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749282", "medic_application_numbers": ["009395|080098"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:33a50e9d-609d-5796-a4ce-237868a76c79", "medic_reliability": "HIGH", "name": "aminosalicylate potassium", "provided_by": ["infores:medic"], "synonym": ["POTASSIUM AMINOSALICYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749283", "medic_application_numbers": ["008822"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:510cc68b-7f14-5256-a9ba-81f1f57ae5f6", "medic_reliability": "HIGH", "name": "desoxycorticosterone pivalate", "provided_by": ["infores:medic"], "synonym": ["DESOXYCORTICOSTERONE PIVALATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200592", "DrugCentral:822", "PHAROS:X3PXXFTXB1ZZ", "PUBCHEM.COMPOUND:11876263", "UNII:16665T4A2X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749288", "medic_application_numbers": ["020134|075941"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19930618", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:196c6d56-b868-538f-a231-c222dea2bcb0", "medic_reliability": "HIGH", "name": "strontium chloride sr 89", "provided_by": ["infores:medic"], "synonym": ["STRONTIUM CHLORIDE SR-89"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749289", "medic_application_numbers": ["017907|018272"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5bb46957-c7ba-5056-89b6-c65c38f63bbc", "medic_reliability": "HIGH", "name": "technetium tc 99m gluceptate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M GLUCEPTATE KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749290", "medic_application_numbers": ["020314|212785"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19940602", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:720a2b31-8c20-5eb0-ad40-f7ba3d28bd01", "medic_reliability": "HIGH", "name": "indium in 111 pentetreotide", "provided_by": ["infores:medic"], "synonym": ["INDIUM IN-111 PENTETREOTIDE KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749292", "medic_application_numbers": ["018489"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19861031", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:2f765b9b-3caa-55fc-9953-98e7094cd2fd", "medic_reliability": "HIGH", "name": "technetium tc 99m lidofenin", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M LIDOFENIN KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749297", "medic_application_numbers": ["017084"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e9918baf-bc30-542f-ba03-520a343aae8c", "medic_reliability": "HIGH", "name": "chromic phosphate p 32", "provided_by": ["infores:medic"], "synonym": ["CHROMIC PHOSPHATE P-32"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749298", "medic_application_numbers": ["021196|202090|203631|210523|214755"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20020717", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c3d737d3-6f52-5272-abda-f108cfd5be7f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011430)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "sodium oxybate", "provided_by": ["infores:medic"], "synonym": ["SODIUM OXYBATE", "Sodium oxybate", "Sodium oxybutyrate", "sodium oxybate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200682", "DRUGBANK:DB09072", "DrugCentral:4566", "PUBCHEM.COMPOUND:23663870"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749301", "medic_application_numbers": ["017551"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0865af44-1a31-53e5-a0fe-e4376231169c", "medic_reliability": "HIGH", "name": "potassium perchlorate", "provided_by": ["infores:medic"], "synonym": ["POTASSIUM PERCHLORATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749302", "medic_application_numbers": ["017518"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6cb1dd5f-b5c1-5e08-b25b-62cb3e37abc7", "medic_reliability": "HIGH", "name": "pentetate calcium trisodium yb-169", "provided_by": ["infores:medic"], "synonym": ["PENTETATE CALCIUM TRISODIUM YB-169"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749304", "medic_application_numbers": ["018685|071793|072687|089449"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19831209", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:643ff32b-c9e7-5a7c-9a3a-db0880e7de81", "medic_reliability": "HIGH", "name": "aluminum hydroxide", "provided_by": ["infores:medic"], "synonym": ["ALUMINUM HYDROXIDE; MAGNESIUM TRISILICATE"], "xref": ["UNII:5QB0T2IUN0"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749306", "medic_application_numbers": ["021654|090973|091018|091028|203893|204940|206455|207420|210093|210107|210834|211345|211355|211979|212504|215458"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20041110", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7ea0932e-4294-574e-8985-ad5cbed65fef", "medic_reliability": "HIGH", "name": "omega-3-acid ethyl esters", "provided_by": ["infores:medic"], "synonym": ["OMEGA-3-ACID ETHYL ESTERS", "OMEGA-3-ACID ETHYL ESTERS TYPE A"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749308", "medic_application_numbers": ["019414|202153"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:901f16c9-2a2e-5f38-b24c-28a4dddf335c", "medic_reliability": "HIGH", "name": "rubidium chloride rb 82", "provided_by": ["infores:medic"], "synonym": ["RUBIDIUM CHLORIDE RB-82"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749312", "medic_application_numbers": ["017042|022494|203247|203544|203592|203605|203777|203780|203890|203912|203936|203968|204315|204328|204351|204437|204440|204462|204464|204497|204513|204517|204530|204541|204542|216126"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7a33d0a7-8bab-5a3e-8978-ab2f832fac64", "medic_reliability": "HIGH", "name": "sodium fluoride f 18", "provided_by": ["infores:medic"], "synonym": ["SODIUM FLUORIDE F-18"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749313", "medic_application_numbers": ["019155|020508|075570|075575|075774|075883|076216|076829|217815"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19850424", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e9b20ccc-8a75-5da0-80f1-084fa87c891c", "medic_reliability": "HIGH", "name": "ammonium lactate", "provided_by": ["infores:medic"], "synonym": ["AMMONIUM LACTATE", "Ammonium lactate"], "xref": ["DRUGBANK:DB06768"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749315", "medic_application_numbers": ["017129"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6b16c1fb-4d30-5fe1-85dd-19eb0f7bca8b", "medic_reliability": "HIGH", "name": "iocetamic acid", "provided_by": ["infores:medic"], "synonym": ["IOCETAMIC ACID"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749322", "medic_application_numbers": ["021135|208977|212340|212559"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20001106", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9d98f5ab-dfdc-533f-8152-643a0137183d", "medic_reliability": "HIGH", "name": "iron sucrose", "provided_by": ["infores:medic"], "synonym": ["IRON SUCROSE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749323", "medic_application_numbers": ["006012"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e66c4ba8-2407-55f7-aeed-f0057162bfc1", "medic_reliability": "HIGH", "name": "ferrous sulfate", "provided_by": ["infores:medic"], "synonym": ["FERROUS SULFATE; FOLIC ACID", "Ferrous Sulphate 150mg Sustained Release", "Ferrous sulfate"], "xref": ["DRUGBANK:DBSALT002666"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749325", "medic_application_numbers": ["017454|017562|017653|017667"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f0860e58-e06a-55ef-a7e3-3d6c00c366c1", "medic_reliability": "HIGH", "name": "technetium tc 99m etidronate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M ETIDRONATE KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749327", "medic_application_numbers": ["010040|011620|016403|087726|087729|087731|087739"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7f56dff6-b4fa-553a-a44d-ba8cd600c729", "medic_reliability": "HIGH", "name": "diatrizoate meglumine", "provided_by": ["infores:medic"], "synonym": ["DIATRIZOATE MEGLUMINE", "DIATRIZOATE MEGLUMINE; DIATRIZOATE SODIUM", "DIATRIZOATE MEGLUMINE; IODIPAMIDE MEGLUMINE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749329", "medic_application_numbers": ["020372"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:50844c87-7087-5e39-bd7b-94fbcc2bbc02", "medic_reliability": "HIGH", "name": "technetium tc 99m tetrofosmin", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M TETROFOSMIN KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749330", "medic_application_numbers": ["018310|090874|206831|210294|210558|210714|211869|213130|216090"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:36a9ea73-0369-5227-9bbe-609d7b4d2e25", "medic_reliability": "HIGH", "name": "isosulfan blue", "provided_by": ["infores:medic"], "synonym": ["ISOSULFAN BLUE"], "xref": ["UNII:39N9K8S2A4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749331", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20181130", "medic_mention_id": "MEDICNE:6c9bff06-721b-5e9a-8093-bc95b42e40a5", "medic_reliability": "MEDIUM", "name": "melphalan hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Melphalan Hydrochloride for Injection", "注射用盐酸美法仑"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749333", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:c47687d8-074c-586d-b1b5-77438d9b9990", "medic_reliability": "MEDIUM", "name": "tolbutamide sodium", "provided_by": ["infores:medic"], "synonym": ["Sodium Tolbutamide Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749336", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:8caa4e33-b237-5a23-bcd9-09f11b621184", "medic_reliability": "MEDIUM", "name": "protokylol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Protokylol Hydrochloride Injection (0.5mg) & Tablet (2mg)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749340", "medic_application_numbers": ["018467"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820316", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e7adf626-c423-55f4-a741-2cea3813f051", "medic_reliability": "HIGH", "name": "technetium tc 99m disofenin", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M DISOFENIN KIT"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749343", "medic_application_numbers": ["060093|060099|060101|060286|060800|062029"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c64f47bb-3cd7-5fab-aad5-b3c9752da75d", "medic_reliability": "HIGH", "name": "penicillin g procaine", "provided_by": ["infores:medic"], "synonym": ["PENICILLIN G PROCAINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749344", "medic_application_numbers": ["084875"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ecb32e78-5e9e-57a3-ab7d-78ff2e0b192e", "medic_reliability": "HIGH", "name": "mersalyl", "provided_by": ["infores:medic"], "synonym": ["MERSALYL SODIUM; THEOPHYLLINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749345", "medic_application_numbers": ["021749"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19700804", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6ecbd3da-7e59-5021-a5ff-0492822f56d2", "medic_registration_numbers": ["MOH_RUSSIA:71/528/33"], "medic_reliability": "HIGH", "name": "pentetate calcium trisodium", "provided_by": ["infores:medic"], "synonym": ["Calcium trisodium pentetate", "PENTETATE CALCIUM TRISODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749352", "medic_application_numbers": ["007842"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c6ac41d5-4e93-5554-929c-b1b0d63191f0", "medic_reliability": "HIGH", "name": "gallamine triethiodide", "provided_by": ["infores:medic"], "synonym": ["GALLAMINE TRIETHIODIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749353", "medic_application_numbers": ["017478|017655|017700|018058"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fa332d6a-e290-5fc8-bb49-c5ee78622ac3", "medic_reliability": "HIGH", "name": "gallium citrate ga 67", "provided_by": ["infores:medic"], "synonym": ["GALLIUM CITRATE GA-67"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749358", "medic_application_numbers": ["012470"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fc44b2de-6c0e-53a0-ac25-a7bde142b549", "medic_reliability": "HIGH", "name": "acrisorcin", "provided_by": ["infores:medic"], "synonym": ["ACRISORCIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749362", "medic_application_numbers": ["017047|017098|017257|017322"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:10513723-32ab-577f-9c97-2a11b226b82e", "medic_reliability": "HIGH", "name": "selenomethionine se 75", "provided_by": ["infores:medic"], "synonym": ["SELENOMETHIONINE SE-75"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749367", "medic_application_numbers": ["050212|061653|061889"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5d2d7ad2-1cdf-5aa6-bf44-d7c9de80fda3", "medic_reliability": "HIGH", "name": "tetracycline phosphate complex", "provided_by": ["infores:medic"], "synonym": ["TETRACYCLINE PHOSPHATE COMPLEX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749368", "medic_application_numbers": ["019841|019862"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19921229", "medic_features": ["METALLIC_SALT"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d334f2b9-c8ed-5370-80b4-09e20a472024", "medic_reliability": "HIGH", "name": "indium in 111 chloride", "provided_by": ["infores:medic"], "synonym": ["INDIUM IN-111 CHLORIDE"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749371", "medic_application_numbers": ["010929|016515|016517|017315|017316|021305|209166|213615"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f4b45a7b-180e-53b5-80d5-f658a459da1f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008894)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "sodium iodide i 131", "provided_by": ["infores:medic"], "synonym": ["SODIUM IODIDE I-131", "Sodium iodide (131I)", "Sodium iodide i-131"], "xref": ["DRUGBANK:DBSALT002460"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749375", "medic_application_numbers": ["017269"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:3ac2eac1-a91b-50bd-b7c7-ac2336d6a575", "medic_reliability": "HIGH", "name": "chlormerodrin hg 197", "provided_by": ["infores:medic"], "synonym": ["CHLORMERODRIN HG-197"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749377", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20161122", "medic_mention_id": "MEDICNE:3f636954-a9ae-560a-bbb5-0e8afbd04e32", "medic_reliability": "HIGH", "name": "darunavir ethanolate", "provided_by": ["infores:medic"], "synonym": ["DARUNAVIR ETHANOLATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749378", "medic_application_numbers": ["021790|202969|203131|203475|204607|205539|205582|206033|207100|208601|209056|210756|210984|212117|212265|212826|212959|213472|214486|214569|215355|217814"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "20060502", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c881c061-ff1a-591d-b318-a2bf90caa548", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007220"], "medic_reliability": "HIGH", "name": "decitabine", "provided_by": ["infores:medic"], "synonym": ["DECITABINE", "Decitabine", "Decitabine Injection 30mg/vial (Additional pack size)", "decitabine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201129", "DRUGBANK:DB01262", "DrugCentral:790", "PHAROS:7FVQT3S3U719", "PUBCHEM.COMPOUND:451668", "UNII:776B62CQ27"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749380", "medic_application_numbers": ["021908|201442|206994|209450|209920|214131|218640"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20060131", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:71454e73-a146-5cb1-9dd1-57fa4decab45", "medic_reliability": "HIGH", "name": "lubiprostone", "provided_by": ["infores:medic"], "synonym": ["LUBIPROSTONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201134", "DrugCentral:4123", "PHAROS:B41CCY15MQ8S", "PUBCHEM.COMPOUND:157920", "UNII:7662KG2R6K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749382", "medic_application_numbers": ["021903|202402"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20060413", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:844dd8e8-2175-589b-b1dc-2464630763ad", "medic_reliability": "HIGH", "name": "ibuprofen lysine", "provided_by": ["infores:medic"], "synonym": ["IBUPROFEN L-LYSINE", "IBUPROFEN LYSINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749387", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20091211", "medic_mention_id": "MEDICNE:e8a6f0bf-bd22-55a5-b8dd-ee6f5ebeeac6", "medic_reliability": "MEDIUM", "name": "carvedilol phosphate", "provided_by": ["infores:medic"], "synonym": ["Carvedilol Phosphate ER tablet 10/20/40/80mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749388", "medic_application_numbers": ["017902|017903"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a65b8bad-2d8e-5d2e-93ac-94fb8201261e", "medic_reliability": "HIGH", "name": "iodamide meglumine", "provided_by": ["infores:medic"], "synonym": ["IODAMIDE MEGLUMINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749389", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20090929", "medic_mention_id": "MEDICNE:f04306e7-3126-57a0-8ab4-17126c91f24a", "medic_reliability": "MEDIUM", "name": "sitagliptin phosphate", "provided_by": ["infores:medic"], "synonym": ["Sitagliptin Phosphate Tablets", "磷酸西格列汀片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749390", "medic_application_numbers": ["021977|202802|202827|202830|202835|202836|208510|211840|214134|214484|214547|215330|215415|215802|216266|216944|217068|217194|217442|218306|218604|218850|218987|219258|219847"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20070223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ab161fd0-1c5d-557c-b92a-446458e50d8d", "medic_reliability": "HIGH", "name": "lisdexamfetamine dimesylate", "provided_by": ["infores:medic"], "synonym": ["LISDEXAMFETAMINE DIMESYLATE", "LISDEXAMFETAMINE MESILATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749391", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20020314", "medic_mention_id": "MEDICNE:d0232eda-8762-577a-870c-34ab35c58d32", "medic_reliability": "MEDIUM", "name": "lanreotide acetate", "provided_by": ["infores:medic"], "synonym": ["Lanreotide Acetate for Injection", "注射用醋酸兰瑞肽"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749396", "medic_application_numbers": ["009193|012015|040103|040706|040715|072264|072265|072266|081265|088510|088511|088514|088877|088894|088895|089058|089059|089060|089211|089212|089213|090168|090233|090287|090294|091152|091525|204713|209442|212694"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e0422490-c797-5528-926f-2125f851e024", "medic_reliability": "HIGH", "name": "benztropine", "provided_by": ["infores:medic"], "synonym": ["BENZTROPINE MESYLATE", "Benztropine Hydrochloride Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201203", "DrugCentral:333", "GTOPDB:7601", "PHAROS:1GT44A3AKFB7", "PUBCHEM.COMPOUND:1201549", "UNII:1NHL2J4X8K"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749398", "medic_stub": true, "name": "chromium", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749399", "medic_stub": true, "name": "methylhomatropine", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7494", "medic_application_numbers": ["020152|075763|076037|076072|076073|076129|076196|076302|076309|076409"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19941222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3345a9eb-a1c6-5390-ba12-cda7a46b0b0b", "medic_reliability": "HIGH", "name": "nefazodone", "provided_by": ["infores:medic"], "synonym": ["NEFAZODONE HYDROCHLORIDE", "Nefazodone"], "xref": ["CHEMBL.COMPOUND:CHEMBL623", "DRUGBANK:DB01149", "DrugCentral:1890", "GTOPDB:7247", "PHAROS:DKZ9W7B6X819", "PUBCHEM.COMPOUND:4449", "UNII:59H4FCV1TF"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749400", "medic_application_numbers": ["007984"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:29d94701-4752-5a85-ad5e-786666c828bb", "medic_reliability": "HIGH", "name": "bromodiphenhydramine", "provided_by": ["infores:medic"], "synonym": ["BROMODIPHENHYDRAMINE HYDROCHLORIDE", "BROMODIPHENHYDRAMINE HYDROCHLORIDE; CODEINE PHOSPHATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200967", "DrugCentral:404", "PHAROS:ABLNZVJHDR3H", "PUBCHEM.COMPOUND:519514", "UNII:T032BI7727"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749401", "medic_application_numbers": ["017707"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820218", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:905840af-7e9c-5af1-8cf4-c699313b5d3b", "medic_reliability": "HIGH", "name": "indium in 111 pentetate", "provided_by": ["infores:medic"], "synonym": ["INDIUM IN-111 PENTETATE DISODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749405", "medic_application_numbers": ["008492"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6067e76e-fe5f-57be-a5c4-994d4dadedc4", "medic_reliability": "HIGH", "name": "oxyphenonium", "provided_by": ["infores:medic"], "synonym": ["OXYPHENONIUM BROMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201286", "DrugCentral:2039", "PHAROS:C913KPGTTSBT", "PUBCHEM.COMPOUND:5749", "UNII:D2G5508Y7I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749409", "medic_application_numbers": ["012126"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:14b5c450-bdad-5fc1-a6e3-24fcfb9c0d02", "medic_reliability": "HIGH", "name": "chlophedianol", "provided_by": ["infores:medic"], "synonym": ["CHLOPHEDIANOL HYDROCHLORIDE"], "xref": ["UNII:42C50P12AP"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749410", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100218", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:49c0cee5-09f5-525a-8936-8e8e291c5f03", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008717"], "medic_reliability": "MEDIUM", "name": "technetium", "provided_by": ["infores:medic"], "synonym": ["[99mTc] technetium", "[99mTc]Technetium + [colloidal rhenium heptasulfide]", "Технеция [99mTc]+[рения гептасульфид коллоидный]"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749441", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960523", "medic_mention_id": "MEDICNE:df2afd74-7df6-5539-ab68-7a6507af5325", "medic_reliability": "HIGH", "name": "corticorelin ovine triflutate", "provided_by": ["infores:medic"], "synonym": ["corticorelin ovine triflutate"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749445", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20090206", "medic_mention_id": "MEDICNE:1cab734b-85bf-5281-96e4-2b4ea421bae8", "medic_reliability": "HIGH", "name": "antithrombin alfa", "provided_by": ["infores:medic"], "synonym": ["Antithrombin (Recombinant)", "Antithrombin alfa"], "xref": ["DRUGBANK:DB11166"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749447", "medic_application_numbers": ["020899"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19740412", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:de9e140c-f5ce-55e6-bc1a-e798d1d0640f", "medic_registration_numbers": ["MOH_RUSSIA:74/331/46"], "medic_reliability": "HIGH", "name": "albumin human", "provided_by": ["infores:medic"], "synonym": ["ALBUMIN HUMAN", "Albumin", "Albumin (Human)", "Human Albumin", "human albumin"], "xref": ["UNII:ZIF514RVZR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749448", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19760223", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:c7c5b4c4-fdbd-5c8e-8df5-f2b63c60e4fb", "medic_reliability": "LOW", "name": "albumin, iodinated i 125 serum", "provided_by": ["infores:medic"], "synonym": ["iodinated I-125 albumin"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749449", "medic_stub": true, "name": "albumin, iodinated i 131 serum", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749450", "medic_application_numbers": ["003402"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9f943a7b-5084-5443-a5c8-f51b840ac275", "medic_reliability": "HIGH", "name": "vasopressin tannate", "provided_by": ["infores:medic"], "synonym": ["VASOPRESSIN TANNATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749451", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19760223", "medic_mention_id": "MEDICNE:6d203c4d-1f23-58b7-be26-e9327c798090", "medic_reliability": "HIGH", "name": "albumin, chromated cr 51 serum", "provided_by": ["infores:medic"], "synonym": ["albumin chromated CR-51 serum"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749453", "medic_application_numbers": ["009190"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:318339b3-029b-5272-b5b5-28468ef914c4", "medic_reliability": "HIGH", "name": "ethiodized oil", "provided_by": ["infores:medic"], "synonym": ["ETHIODIZED OIL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749455", "medic_application_numbers": ["017664"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:294e08bd-3447-5c46-9329-14ae8e0b31a1", "medic_reliability": "HIGH", "name": "technetium tc-99m polyphosphate kit", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M POLYPHOSPHATE KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749459", "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19871113", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c2656f85-16c4-5546-88dd-9f3f2456a6cb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005158"], "medic_reliability": "HIGH", "name": "alteplase", "provided_by": ["infores:medic"], "synonym": ["ALTEPLASE", "Alteplase", "Alteplaza", "alteplase"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201593", "DRUGBANK:DB00009", "DrugCentral:5141", "PHAROS:alteplase", "UNII:1RXS4UE564"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:749460", "medic_application_numbers": ["020532"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960826", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:e1e55cdd-d0e1-5ab8-9e71-84109146b7d9", "medic_reliability": "HIGH", "name": "bentoquatam", "provided_by": ["infores:medic"], "synonym": ["BENTOQUATAM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749461", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19910220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f2a64c9a-ee18-5b9c-927f-9658fee570f8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000368"], "medic_reliability": "HIGH", "name": "filgrastim", "provided_by": ["infores:medic"], "synonym": ["FILGRASTIM", "FILGRASTIM [FILGRASTIM BIOSIMILAR 2]", "FILGRASTIM [FILGRASTIM BIOSIMILAR 3]", "Filgrastim", "Recombinant human granulocyte colony-stimulating factor [rhG-CSF]", "filgrastim", "filgrastim-txid"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201567", "DRUGBANK:DB00099", "DrugCentral:4987", "PHAROS:filgrastim", "UNII:PVI5M0M1GW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749463", "medic_application_numbers": ["005691"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:27b7dcae-ffb7-5073-9979-4f8644a75851", "medic_reliability": "HIGH", "name": "veratrum viride root", "provided_by": ["infores:medic"], "synonym": ["VERATRUM VIRIDE ROOT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749464", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20020219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4352dfdd-6e74-5b4d-9f22-8257eac90aec", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-003171/09"], "medic_reliability": "HIGH", "name": "ibritumomab tiuxetan", "provided_by": ["infores:medic"], "synonym": ["Ibritumomab tiuxetan", "ibritumomab tiuxetan"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108667", "DRUGBANK:DB00078", "DrugCentral:4984"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749465", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19990907", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:33790562-fa98-538d-bd63-764b03d9ef8a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005882"], "medic_reliability": "HIGH", "name": "insulin aspart", "provided_by": ["infores:medic"], "synonym": ["INSULIN ASPART", "INSULIN ASPART [INSULIN ASPART BIOSIMILAR 1]", "Insulin Aspart", "insulin aspart"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201496", "DrugCentral:4981", "UNII:D933668QVX"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749466", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19980701", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f26b43f5-8322-5e1f-9296-2117290e195a", "medic_reliability": "HIGH", "name": "calfactant", "provided_by": ["infores:medic"], "synonym": ["Calfactant", "calfactant"], "xref": ["DRUGBANK:DB06415", "UNII:Q4K217VGA9"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:749467", "medic_application_numbers": ["018612|020066|021330|022360|074507|074707|076568|076569|076775|076776|076777|076778|076779|076789|076880|077007|077656|077658|077850|078325|078326|078546|078547|078697|078699|078967|078968|079038|079044|079216|079219|090711|090821|091349|091354|203690|204794|204833|206393|206394|207868|208875|209206|209519|209520|210711|210712|212056|212057|212796|212983|213233|213266|214354|215276|215357"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960209", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:9a044919-240f-53cc-89c3-4cfb31554ecc", "medic_reliability": "HIGH", "name": "nicotine polacrilex", "provided_by": ["infores:medic"], "synonym": ["NICOTINE POLACRILEX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749470", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19991029", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:16fdb757-1215-5fc6-a5ae-af93cb9eccfa", "medic_reliability": "HIGH", "name": "polyethylene glycol", "provided_by": ["infores:medic"], "synonym": ["Polyethylene Glycol 3350 Powder", "Polyethylene Glycol 4000 Powder", "Polyethylene glycol 0.4% w/v + Propylene Glycol 0.3% w/v Eye Drops"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749471", "medic_application_numbers": ["019981|020063"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19910610", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3cb02e0f-d4a8-5c26-87db-350289f7fbe9", "medic_reliability": "HIGH", "name": "technetium tc 99m red blood cells", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M RED BLOOD CELL KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749474", "medic_application_numbers": ["016923|017059|017784|017858|213516"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4ce1b7d3-1b3a-5069-b1de-d34790ac1afe", "medic_reliability": "HIGH", "name": "technetium tc 99m sulfur colloid", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M SULFUR COLLOID", "TECHNETIUM TC-99M SULFUR COLLOID KIT"], "xref": ["UNII:556Q0P6PB1"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749475", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19740612", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b3869fe4-7d4e-5396-a089-55e3f0c89efb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000366)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "rabies immune globulin", "provided_by": ["infores:medic"], "synonym": ["Rabies Immune Globulin (Human)", "Rabies Immunoglobulin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749476", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19970827", "medic_mention_id": "MEDICNE:6c897856-476a-5728-b277-e7299c87c329", "medic_reliability": "MEDIUM", "name": "enoxaparin sodium", "provided_by": ["infores:medic"], "synonym": ["Enoxaparin Sodium Injection", "Enoxaparin Sodium Injection (Addl.Indication)", "依诺肝素钠注射液"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201476", "DrugCentral:4879"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749477", "medic_stub": true, "name": "intrinsic factor", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749478", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19920505", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a2b46e61-5a7a-5972-970a-7c0e92612a8b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012558)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "aldesleukin", "provided_by": ["infores:medic"], "synonym": ["Aldesleukin", "Interleukin-2", "aldesleukin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201438", "DRUGBANK:DB00041", "DrugCentral:5011", "PHAROS:aldesleukin", "UNII:M89N0Q7EQR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749479", "medic_application_numbers": ["008814"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5c42141d-4a00-5097-8015-437f70327e01", "medic_reliability": "HIGH", "name": "cryptenamine acetates", "provided_by": ["infores:medic"], "synonym": ["CRYPTENAMINE ACETATES"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749481", "medic_application_numbers": ["008867|009215"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ec946646-fa70-5703-a76f-c9b07cc37d38", "medic_reliability": "HIGH", "name": "alseroxylon", "provided_by": ["infores:medic"], "synonym": ["ALSEROXYLON"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:749482", "medic_application_numbers": ["018658|091135|203133"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19821008", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:e2d2a496-b811-5f20-9fa9-e8ab981fb1f8", "medic_reliability": "HIGH", "name": "dextromethorphan polistirex", "provided_by": ["infores:medic"], "synonym": ["DEXTROMETHORPHAN POLISTIREX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749485", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:2f112c48-0523-57b8-acee-38fd796e2f71", "medic_reliability": "MEDIUM", "name": "polyestradiol phosphate", "provided_by": ["infores:medic"], "synonym": ["Polyestradiol Phosphate Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201477", "DrugCentral:3482"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749486", "medic_application_numbers": ["021191"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20020531", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:45653801-e3dd-5fa0-aa68-fe6ebb484f5c", "medic_reliability": "HIGH", "name": "dimyristoyl lecithin", "provided_by": ["infores:medic"], "synonym": ["DIMYRISTOYL LECITHIN; PERFLEXANE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749488", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20021112", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5f7b41d7-18d2-54cb-aaa9-dd7de49240a0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005117"], "medic_reliability": "HIGH", "name": "pegvisomant", "provided_by": ["infores:medic"], "synonym": ["Pegvisomant", "pegvisomant"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201515", "DRUGBANK:DB00082", "DrugCentral:5015", "PHAROS:pegvisomant", "UNII:N824AOU5XV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749490", "medic_application_numbers": ["011340"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b69f926b-3952-5ba0-82e3-0917ad843e9a", "medic_reliability": "HIGH", "name": "trolamine polypeptide oleate condensate", "provided_by": ["infores:medic"], "synonym": ["TROLAMINE POLYPEPTIDE OLEATE CONDENSATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749492", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20030130", "medic_mention_id": "MEDICNE:fd85c561-0cfb-511f-885e-50cfbf07e305", "medic_reliability": "HIGH", "name": "alefacept", "provided_by": ["infores:medic"], "synonym": ["alefacept"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201571", "DrugCentral:5088", "PHAROS:alefacept"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749493", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20031027", "medic_mention_id": "MEDICNE:0b9d6ab7-84be-5aba-9412-15414d8508eb", "medic_reliability": "HIGH", "name": "efalizumab", "provided_by": ["infores:medic"], "synonym": ["efalizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201575", "DrugCentral:4959", "PHAROS:efalizumab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749494", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20021231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf393db8-a321-54e5-9b04-7fc8e7e1347d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004593"], "medic_reliability": "HIGH", "name": "adalimumab", "provided_by": ["infores:medic"], "synonym": ["ADALIMUMAB", "ADALIMUMAB [ADALIMUMAB BIOSIMILAR 1]", "ADALIMUMAB [ADALIMUMAB BIOSIMILAR 2]", "ADALIMUMAB [ADALIMUMAB BIOSIMILAR 3]", "ADALIMUMAB [ADALIMUMAB BIOSIMILAR 4]", "Adalimumab", "adalimumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201580", "DRUGBANK:DB00051", "DrugCentral:4904", "PHAROS:adalimumab", "UNII:FYS6T7F842"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749495", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20040226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ef107c27-9e80-5e3d-ba5c-ccfd1a954edf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003336"], "medic_reliability": "HIGH", "name": "bevacizumab", "provided_by": ["infores:medic"], "synonym": ["Avastin Capsules", "BEVACIZUMAB", "BEVACIZUMAB [BEVACIZUMAB BIOSIMILAR 1]", "BEVACIZUMAB [BEVACIZUMAB BIOSIMILAR 2]", "BEVACIZUMAB [BEVACIZUMAB BIOSIMILAR 4]", "Bevacizumab", "bevacizumab", "bevacizumab-nwgd"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201583", "DRUGBANK:DB00112", "DrugCentral:4956", "PHAROS:bevacizumab", "UNII:2S9ZZM9Q9V"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749496", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19980619", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c9222c08-ae73-50eb-88ed-3ef0f439454f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005242"], "medic_reliability": "HIGH", "name": "palivizumab", "provided_by": ["infores:medic"], "synonym": ["PALIVIZUMAB", "Palivizumab", "palivizumab"], "xref": ["DRUGBANK:DB00110"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749497", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20030620", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e670d4f8-b57e-5d01-b1ae-74cc0ab93d74", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004376"], "medic_reliability": "HIGH", "name": "omalizumab", "provided_by": ["infores:medic"], "synonym": ["OMALIZUMAB", "Omalizumab", "omalizumab", "omalizumab-igec"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201589", "DRUGBANK:DB00043", "DrugCentral:4972", "PHAROS:omalizumab", "UNII:2P471X1Z11"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749498", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20060119", "medic_mention_id": "MEDICNE:bc070b48-8e27-547c-bea3-7c9572b6232a", "medic_reliability": "HIGH", "name": "human immunoglobulin g", "provided_by": ["infores:medic"], "synonym": ["Human immunoglobulin g", "human normal immunoglobulin", "human normal immunoglobulin (IVIg)", "human normal immunoglobulin (SCIg)"], "xref": ["DRUGBANK:DB00028", "UNII:66Y330CJHS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749499", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20030627", "medic_mention_id": "MEDICNE:72898966-826e-5fb8-a4b9-94a2e6e175b1", "medic_reliability": "LOW", "name": "tositumomab", "provided_by": ["infores:medic"], "synonym": ["tositumomab and iodine I-131 tositumomab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749500", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20041123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4967f645-6aba-5ce8-9718-ad0913e4fc71", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007827)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "natalizumab", "provided_by": ["infores:medic"], "synonym": ["NATALIZUMAB", "Natalizumab", "natalizumab", "natalizumab-sztn"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201607", "DRUGBANK:DB00108", "DrugCentral:4970", "PHAROS:natalizumab", "UNII:3JB47N2Q2P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749501", "medic_application_numbers": ["016640|019669|071621|071739|073263|073403|074347|074348|074554|074555|074557|074558|074561|074562|074771|077203|077204|202901|202902|207294|209109|209597|209599|211119|211799|211856|214877|219318"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b33851d2-b2ce-5fbd-97dd-a4569c2ac1ae", "medic_reliability": "HIGH", "name": "cholestyramine", "provided_by": ["infores:medic"], "synonym": ["CHOLESTYRAMINE", "Cholestyramine"], "xref": ["DRUGBANK:DB01432", "UNII:4B33BGI082"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749502", "medic_application_numbers": ["021321"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20021220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:72c6f546-1621-5194-9008-7add181fc2da", "medic_registration_numbers": ["MOH_RUSSIA:П N015395/01"], "medic_reliability": "HIGH", "name": "icodextrin", "provided_by": ["infores:medic"], "synonym": ["ICODEXTRIN", "Icodextrin"], "xref": ["UNII:2NX48Z0A9G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749503", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20010608", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:38ffae54-4686-5d06-a0ec-c1f56bfa0bc4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005411"], "medic_reliability": "HIGH", "name": "darbepoetin alfa", "provided_by": ["infores:medic"], "synonym": ["DARBEPOETIN ALFA", "DARBEPOETIN ALFA [DARBEPOETIN ALFA BIOSIMILAR 1]", "DARBEPOETIN ALFA [DARBEPOETIN ALFA BIOSIMILAR 2]", "DARBEPOETIN ALFA [DARBEPOETIN ALFA BIOSIMILAR 3]", "Darbepoetin alfa", "darbepoetin alfa", "darbepoetin alpha"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201566", "DrugCentral:5157", "UNII:15UQ94PT4P"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749504", "medic_application_numbers": ["021136"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20020404", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f4f816ca-e37d-507c-9120-d485f5f412b7", "medic_reliability": "HIGH", "name": "secretin synthetic porcine", "provided_by": ["infores:medic"], "synonym": ["SECRETIN SYNTHETIC PORCINE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749506", "medic_application_numbers": ["060427|060582|062383|062788|062818|064047|065187"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:12dc87e5-32d8-5223-9f4f-825876a2b183", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010861)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "gramicidin", "provided_by": ["infores:medic"], "synonym": ["Framycetin + Gramicidin + Dexamethasone", "GRAMICIDIN; NEOMYCIN SULFATE; POLYMYXIN B SULFATE", "Gramicidin"], "xref": ["UNII:5IE62321P4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749507", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19961028", "medic_mention_id": "MEDICNE:be376088-e5e3-5d2a-be63-df7c2bc31882", "medic_reliability": "HIGH", "name": "capromab pendetide", "provided_by": ["infores:medic"], "synonym": ["capromab pendetide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749508", "medic_application_numbers": ["021084"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000217", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1dd4339b-ec9b-5059-a202-5efa9fe33079", "medic_reliability": "HIGH", "name": "perfluoropolymethylisopropyl ether", "provided_by": ["infores:medic"], "synonym": ["PERFLUOROPOLYMETHYLISOPROPYL ETHER; POLYTETRAFLUOROETHYLENE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749510", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20020506", "medic_mention_id": "MEDICNE:a6fbf1ab-668a-5c43-be51-cc65a1bab45c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000134"], "medic_reliability": "HIGH", "name": "urofollitropin", "provided_by": ["infores:medic"], "synonym": ["Urofollitropin", "urofollitropin"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749512", "medic_application_numbers": ["021012"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19990803", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0c8450f8-1fc8-56c4-b8ab-a59f64683b3c", "medic_reliability": "HIGH", "name": "technetium tc 99m depreotide", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M DEPREOTIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749513", "medic_application_numbers": ["017684"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9c0e6738-1810-5ed4-8b16-aa5ea94aa69d", "medic_reliability": "HIGH", "name": "technetium tc 99m (pyro- and trimeta-) phosphates", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M PYRO/TRIMETA PHOSPHATES KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749514", "medic_application_numbers": ["017045"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c2eb9819-74b5-58cc-a95e-d80abed1580e", "medic_reliability": "HIGH", "name": "technetium tc 99m ferpentetate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M FERPENTETATE KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749515", "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19780116", "medic_mention_id": "MEDICNE:fd905386-9e17-50c8-8e02-2a2ef2288692", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-008309/08"], "medic_reliability": "HIGH", "name": "urokinase", "provided_by": ["infores:medic"], "synonym": ["Urokinase", "Urokinase for Injection", "urokinase"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201420", "DRUGBANK:DB00013", "DrugCentral:5109", "PHAROS:urokinase", "UNII:83G67E21XI"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749519", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:1b5b84a7-70cd-5c87-b288-8890158fd7c0", "medic_reliability": "MEDIUM", "name": "fibrinolysin, human", "provided_by": ["infores:medic"], "synonym": ["Fibrinolysin (human) 50000 & 100000 units"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749520", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20170901", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:23c7513c-2155-5506-95db-7add9099d035", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008678"], "medic_reliability": "HIGH", "name": "gemtuzumab ozogamicin", "provided_by": ["infores:medic"], "synonym": ["Gemtuzumab ozogamicin", "gemtuzumab ozogamicin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201506", "DRUGBANK:DB00056", "DrugCentral:4980", "UNII:8GZG754X6M"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749523", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20001129", "medic_mention_id": "MEDICNE:04626d34-d197-5dd0-90a8-60351ffa321d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012055)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "lutropin alfa", "provided_by": ["infores:medic"], "synonym": ["Lutropin Alpha", "Lutropin alfa", "lutropin alfa"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201419", "DRUGBANK:DB00044", "DrugCentral:4929"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749526", "medic_application_numbers": ["018771"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c279d0bc-8ff8-5730-8333-2a98fcef6dff", "medic_reliability": "HIGH", "name": "hydroxypropyl cellulose", "provided_by": ["infores:medic"], "synonym": ["HYDROXYPROPYL CELLULOSE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749527", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111101", "medic_mention_id": "MEDICNE:db613134-54a9-533c-bedc-eff50dcd1787", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000223"], "medic_reliability": "MEDIUM", "name": "desoxyribonuclease", "provided_by": ["infores:medic"], "synonym": ["Deoxyribonuclease", "Дезоксирибонуклеаза"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749530", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210323", "medic_mention_id": "MEDICNE:db8147af-462b-5715-8c47-4287a55effd5", "medic_reliability": "HIGH", "name": "hyaluronidase (human recombinant)", "provided_by": ["infores:medic"], "synonym": ["VORHYALURONIDASE ALFA"], "xref": ["UNII:743QUY4VD8"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749532", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971125", "medic_mention_id": "MEDICNE:0b2152e7-e909-5ed8-b19f-897e66d56930", "medic_reliability": "HIGH", "name": "oprelvekin", "provided_by": ["infores:medic"], "synonym": ["oprelvekin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201573", "DrugCentral:5026", "PHAROS:oprelvekin"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749535", "medic_application_numbers": ["020992|021788"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19990324", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8964e97f-d9b4-5e01-909b-ddf50b5495bd", "medic_reliability": "HIGH", "name": "estrogens, conjugated synthetic a", "provided_by": ["infores:medic"], "synonym": ["ESTROGENS, CONJUGATED SYNTHETIC A"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749537", "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:156ec82f-25c6-54b4-b28c-01e459aca7bf", "medic_registration_numbers": ["MOH_RUSSIA:95/124/4"], "medic_reliability": "HIGH", "name": "aprotinin", "provided_by": ["infores:medic"], "synonym": ["Aprotinin", "aprotinin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201619", "DrugCentral:4839", "PHAROS:aprotinin"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749538", "medic_application_numbers": ["011287|040028|040029|040905|040909|087859|088453|088717|088786|089049|089910|090313|090590|202333|204071|205727|206815|214912"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:97288f40-e0dc-5583-94e0-2c38d33cdbe8", "medic_reliability": "HIGH", "name": "sodium polystyrene sulfonate", "provided_by": ["infores:medic"], "synonym": ["SODIUM POLYSTYRENE SULFONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749539", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100218", "medic_mention_id": "MEDICNE:76db3da7-4244-5d9d-bf9d-610dedd42993", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006696)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "chymotrypsin", "provided_by": ["infores:medic"], "synonym": ["Chymotrypsin", "Химотрипсин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749540", "medic_application_numbers": ["006460|007413|089454|089474|089475"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:32a6d46d-ab64-57f9-bffc-594aa12f1f3f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001025"], "medic_reliability": "HIGH", "name": "protamine sulfate", "provided_by": ["infores:medic"], "synonym": ["PROTAMINE SULFATE", "Protamine sulfate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749541", "medic_application_numbers": ["005932|006170"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19840110", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ec75cc1d-ebbe-5fc9-8740-3d9ec14c5910", "medic_reliability": "HIGH", "name": "protein hydrolysate", "provided_by": ["infores:medic"], "synonym": ["PROTEIN HYDROLYSATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749542", "medic_application_numbers": ["007336"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7c4ac33e-0546-5975-aca9-d9f19da51f9f", "medic_reliability": "HIGH", "name": "alkavervir", "provided_by": ["infores:medic"], "synonym": ["ALKAVERVIR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749543", "medic_application_numbers": ["018203|018614"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b9a3d34b-fc60-559a-b4e2-9c2ffb2ecb0d", "medic_reliability": "HIGH", "name": "safflower oil", "provided_by": ["infores:medic"], "synonym": ["SAFFLOWER OIL", "SAFFLOWER OIL; SOYBEAN OIL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749544", "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "19910305", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d00a589e-a126-5a60-9f9b-f308165207f1", "medic_reliability": "HIGH", "name": "sargramostim", "provided_by": ["infores:medic"], "synonym": ["SARGRAMOSTIM", "Sargramostim", "sargramostim"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201670", "DRUGBANK:DB00020", "DrugCentral:5025", "PHAROS:sargramostim", "UNII:5TAA004E22"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749545", "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19931230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7780ad1c-2fd0-551f-b41d-9207c6a8b0ca", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005537"], "medic_reliability": "HIGH", "name": "dornase alfa", "provided_by": ["infores:medic"], "synonym": ["DORNASE ALFA", "Dornase alfa", "dornase alfa"], "xref": ["DRUGBANK:DB00003", "UNII:953A26OA1Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749546", "medic_application_numbers": ["083209|083266|083376|083414|083765|083856|083857|084215|084948|084949|084950|084951|085007|085008|085076|085302|085907|086715"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f282583c-5772-546f-8189-3b358f39985c", "medic_reliability": "HIGH", "name": "estrogens, esterified", "provided_by": ["infores:medic"], "synonym": ["ESTROGENS, ESTERIFIED", "Esterified estrogens"], "xref": ["UNII:3ASP8Q3768"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749549", "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19941222", "medic_mention_id": "MEDICNE:ad4ceeae-4679-5c71-a779-b7c40690cc77", "medic_reliability": "HIGH", "name": "abciximab", "provided_by": ["infores:medic"], "synonym": ["Abciximab 10mg/5ml vial Injection", "abciximab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201584", "DrugCentral:4950", "PHAROS:abciximab"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749560", "medic_application_numbers": ["019401"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19870619", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:457e376c-95aa-5988-9fc9-6cc55c1425f9", "medic_reliability": "HIGH", "name": "pseudoephedrine polistirex", "provided_by": ["infores:medic"], "synonym": ["PSEUDOEPHEDRINE POLISTIREX"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749567", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "19981130", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f448a195-1e43-5409-8b48-f8ccf7a9db39", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004339"], "medic_reliability": "HIGH", "name": "thyrotropin alfa", "provided_by": ["infores:medic"], "synonym": ["Thyrotropin alfa", "thyrotropin alfa"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201533", "DRUGBANK:DB00024", "DrugCentral:4930", "UNII:AVX3D5A4LM"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749575", "medic_stub": true, "name": "petrolatum, white", "provided_by": ["infores:medic"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:749577", "medic_application_numbers": ["021586"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20060929", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:c02d6335-49cd-5a86-9d85-9d9fda9f18f7", "medic_reliability": "HIGH", "name": "iodine povacrylex", "provided_by": ["infores:medic"], "synonym": ["IODINE POVACRYLEX; ISOPROPYL ALCOHOL"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749578", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20051212", "medic_mention_id": "MEDICNE:0460730d-de42-53f2-90df-2595eba02342", "medic_reliability": "HIGH", "name": "mecasermin rinfabate", "provided_by": ["infores:medic"], "synonym": ["mecasermin rinfabate"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749587", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20110518", "medic_mention_id": "MEDICNE:f433eef8-d3d0-5f60-a79d-8a3fef543358", "medic_reliability": "MEDIUM", "name": "bendamustine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Bendamustine Hydrochloride Injection 100mg/vial (Additional Indication)", "Bendamustine Hydrochloride for Injection", "注射用盐酸苯达莫司汀"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749607", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20090424", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6bd26ba6-bd19-5e27-a3ef-6e23b28e1747", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001686"], "medic_reliability": "HIGH", "name": "golimumab", "provided_by": ["infores:medic"], "synonym": ["GOLIMUMAB", "GOLIMUMAB [GOLIMUMAB BIOSIMILAR 1]", "Golimumab", "golimumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201833", "DRUGBANK:DB06674", "DrugCentral:4967", "PHAROS:golimumab", "UNII:91X1KLU43E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749608", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20090617", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:791280df-9a72-5ef9-b055-90adcc0b38ea", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001414"], "medic_reliability": "HIGH", "name": "canakinumab", "provided_by": ["infores:medic"], "synonym": ["CANAKINUMAB", "Canakinumab", "Kanakinumab", "canakinumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201834", "DRUGBANK:DB06168", "DrugCentral:4952", "PHAROS:canakinumab", "UNII:37CQ2C7X93"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749609", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20090115", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8e315662-8150-5a40-a44c-d5c97e0398a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001104"], "medic_reliability": "HIGH", "name": "ustekinumab", "provided_by": ["infores:medic"], "synonym": ["USTEKINUMAB", "USTEKINUMAB [USTEKINUMAB BIOSIMILAR 1]", "USTEKINUMAB [USTEKINUMAB BIOSIMILAR 2]", "USTEKINUMAB [USTEKINUMAB BIOSIMILAR 3]", "Ustekinumab", "ustekinumab", "ustekinumab-aauz", "ustekinumab-auub", "ustekinumab-hmny", "ustekinumab-kfce", "ustekinumab-srlf", "ustekinumab-stba"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201835", "DRUGBANK:DB05679", "DrugCentral:4966", "PHAROS:ustekinumab", "UNII:FU77B4U5Z0"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:749658", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:663f12d7-9e62-595f-8200-2934d1883e2f", "medic_reliability": "MEDIUM", "name": "citicoline", "provided_by": ["infores:medic"], "synonym": ["Citicoline (750mg) tablet (additional strength), syrup 500mg/5ml (new dosage Form) (not For children)", "Citicoline Oral Drops", "Citicoline tablet 200mg (additional strength)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749677", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19690408", "medic_mention_id": "MEDICNE:0b71f7c2-310e-5059-a5d8-79e84ad69114", "medic_registration_numbers": ["MOH_RUSSIA:69/241/1"], "medic_reliability": "MEDIUM", "name": "cocarboxylase", "provided_by": ["infores:medic"], "synonym": ["Cocarboxylase", "Cocarboxylase + Riboflavin + Thioctic Acid", "Кокарбоксилаза"], "xref": ["UNII:Q57971654Y"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749683", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20100914", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4b7a2165-041f-5818-85cd-83b8aa7fea63", "medic_reliability": "HIGH", "name": "pegloticase", "provided_by": ["infores:medic"], "synonym": ["Pegloticase", "pegloticase"], "xref": ["DRUGBANK:DB09208", "UNII:R581OT55EA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749685", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080708", "medic_mention_id": "MEDICNE:826283eb-61af-5930-8707-2ecb9a56f44e", "medic_registration_numbers": ["MOH_RUSSIA:П N013758/01"], "medic_reliability": "LOW", "name": "propoxyphene hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dolobene", "Долобене"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749686", "medic_application_numbers": ["020256"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19941123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1b384be5-0abd-5e18-91f6-f0ee8e95527a", "medic_reliability": "HIGH", "name": "technetium tc 99m bicisate", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M BICISATE KIT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749693", "medic_application_numbers": ["209939|209940|219104"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20171108", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2f637f6c-dda7-597a-9cf6-e141375e8aff", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000856)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "letermovir", "provided_by": ["infores:medic"], "synonym": ["LETERMOVIR", "Letermovir", "Letermovir Bulk Drug &Letermovir Tablets 240mg and 480 mg", "Lettermovir", "letermovir"], "xref": ["DRUGBANK:DB12070", "UNII:1H09Y5WO1F"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749719", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220330", "medic_mention_id": "MEDICNE:62826d71-b6d9-5f3b-bd25-8cad8a656514", "medic_reliability": "MEDIUM", "name": "doxycycline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Doxycycline Hydrochloride Tablets", "Doxycycline Hydrochloride for Injection", "盐酸多西环素片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749720", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20120101", "medic_mention_id": "MEDICNE:901a0295-a079-5adb-8ec6-3fea2b360089", "medic_reliability": "MEDIUM", "name": "flupirtine maleate", "provided_by": ["infores:medic"], "synonym": ["Flupirtine Maleate Sustained Release Tablets 400mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749728", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20190204", "medic_mention_id": "MEDICNE:cf52004b-906e-5854-b149-4375b664d6f9", "medic_reliability": "MEDIUM", "name": "fenspiride hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Fenspiride hydrochloride film coated extended release tablet 80 mg and Fenspiride hydrochloride bulk"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749735", "medic_application_numbers": ["208627|214518"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20180713", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3a23bbcd-f1b2-5a33-af89-415baab2a05c", "medic_reliability": "HIGH", "name": "tecovirimat", "provided_by": ["infores:medic"], "synonym": ["TECOVIRIMAT", "TECOVIRIMAT HYDRATE", "Tecovirimat", "tecovirimat monohydrate"], "xref": ["DRUGBANK:DB12020", "UNII:F925RR824R"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749764", "medic_stub": true, "name": "octisalate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749768", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700330", "medic_mention_id": "MEDICNE:a4bcc865-dd72-5877-9dfd-9485c059d8b2", "medic_registration_numbers": ["MOH_RUSSIA:70/183/16"], "medic_reliability": "MEDIUM", "name": "benzobarbital", "provided_by": ["infores:medic"], "synonym": ["Benzobarbital", "Бензобарбитал"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749786", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:616fe3e6-c706-5893-a9f8-af5cfc8f481c", "medic_reliability": "MEDIUM", "name": "cyclopenthiazide", "provided_by": ["infores:medic"], "synonym": ["Cyclopenthiazide 0.5mg Tablet"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:749790", "medic_stub": true, "name": "homosalate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749807", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210730", "medic_mention_id": "MEDICNE:3830c9f3-9477-561f-9227-b1fd0ecfcdef", "medic_reliability": "MEDIUM", "name": "norepinephrine bitartrate", "provided_by": ["infores:medic"], "synonym": ["Norepinephrine Bitartrate Injection", "重酒石酸去甲肾上腺素注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749811", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090407", "medic_mention_id": "MEDICNE:b04f75bf-9572-5159-9465-a6436cc8bff5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008245"], "medic_reliability": "HIGH", "name": "nafronyl oxalate", "provided_by": ["infores:medic"], "synonym": ["Naftidrofuryl"], "xref": ["DRUGBANK:DB13588"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749813", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:a0291d48-6ce5-58cf-862c-837a9ed380e0", "medic_reliability": "MEDIUM", "name": "prosultiamine", "provided_by": ["infores:medic"], "synonym": ["Thiamine Propyl Disulphide (Bulk)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749814", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:f8ab0322-d714-5cae-a5a9-efb3405de0cd", "medic_reliability": "LOW", "name": "morantel tartrate", "provided_by": ["infores:medic"], "synonym": ["Marantel Tartrate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749816", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20000120", "medic_mention_id": "MEDICNE:d687c164-e532-5c35-8b01-00a62dbf638b", "medic_reliability": "MEDIUM", "name": "betahistine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Betahistine Hcl 16mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749830", "medic_mention_id": "MEDICNE:9ea44408-ade1-532a-8fd8-ffa1955a8cf4", "medic_reliability": "EXCLUDED", "name": "docusate", "provided_by": ["infores:medic"], "synonym": ["Docusate"], "xref": ["DRUGBANK:DB11089", "UNII:M7P27195AG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749854", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:33b8641e-ef81-5155-aa09-0e092e274514", "medic_registration_numbers": ["MOH_RUSSIA:64/228/148"], "medic_reliability": "LOW", "name": "metazide", "provided_by": ["infores:medic"], "synonym": ["Metazid", "Метазид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749870", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19990917", "medic_mention_id": "MEDICNE:6928867b-6624-57ca-b410-df44d699861f", "medic_reliability": "MEDIUM", "name": "omeprazole magnesium", "provided_by": ["infores:medic"], "synonym": ["Omeprazole Magnesium 10mg/20mg Enteric Coated Tablet", "Omeprazole Magnesium Enteric-Coated Tablets", "奥美拉唑镁肠溶片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749871", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:2627b97c-2ed5-5881-bdc3-723f2e4c347d", "medic_reliability": "MEDIUM", "name": "metaproterenol sulfate", "provided_by": ["infores:medic"], "synonym": ["Orciprenaline Sulphate 10mg Syrup"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749877", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:f84e6776-6e6b-5313-9aa1-2374b6064e89", "medic_reliability": "MEDIUM", "name": "pyrantel tartrate", "provided_by": ["infores:medic"], "synonym": ["Pyrantel Tartrate (For Veterinary purpose)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749921", "medic_application_numbers": ["010599"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:da56a3b8-5ff2-5501-bc3b-10ec5530dec2", "medic_reliability": "HIGH", "name": "hexocyclium methylsulfate", "provided_by": ["infores:medic"], "synonym": ["HEXOCYCLIUM METHYLSULFATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749938", "medic_application_numbers": ["214429"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20210716", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2ab0e21e-301e-579e-92ed-b0a4005505e9", "medic_reliability": "HIGH", "name": "fexinidazole", "provided_by": ["infores:medic"], "synonym": ["FEXINIDAZOLE", "Fexinidazole"], "xref": ["DRUGBANK:DB12265", "UNII:306ERL82IR"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:749946", "medic_application_numbers": ["210303"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20180625", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:14410d27-fcdf-5016-801c-7ad32f2c2b6c", "medic_reliability": "HIGH", "name": "plazomicin", "provided_by": ["infores:medic"], "synonym": ["PLAZOMICIN SULFATE", "Plazomicin", "Plazomicin injection 500mg/10ml (50mg/ml)"], "xref": ["DRUGBANK:DB12615", "UNII:LYO9XZ250J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749951", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20111027", "medic_mention_id": "MEDICNE:0f236d47-d6af-5ed4-9a17-fe414e5d2f2a", "medic_reliability": "HIGH", "name": "piperaquine tetraphosphate", "provided_by": ["infores:medic"], "synonym": ["piperaquine tetraphosphate;artenimol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749985", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110216", "medic_mention_id": "MEDICNE:93d970c7-b9b6-5411-9cb3-aa6ad8d023f4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000230"], "medic_reliability": "MEDIUM", "name": "enisamium iodide", "provided_by": ["infores:medic"], "synonym": ["Enisamium iodide", "Энисамия йодид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:749993", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20001024", "medic_mention_id": "MEDICNE:77c3a75c-f7a7-537c-894b-f78d8dcc3c07", "medic_reliability": "MEDIUM", "name": "mosapride citrate", "provided_by": ["infores:medic"], "synonym": ["Mosapride Citrate Granules", "Mosapride Citrate Tablets", "枸橼酸莫沙必利片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750062", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20111118", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3315869f-0adb-5b75-b702-8c509ae78a7a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002534"], "medic_reliability": "HIGH", "name": "aflibercept", "provided_by": ["infores:medic"], "synonym": ["AFLIBERCEPT", "AFLIBERCEPT BETA", "AFLIBERCEPT [AFLIBERCEPT BIOSIMILAR 1]", "AFLIBERCEPT [AFLIBERCEPT BIOSIMILAR 2]", "AFLIBERCEPT [AFLIBERCEPT BIOSIMILAR 3]", "Aflibercept", "Ziv-Aflibercept", "aflibercept", "aflibercept-abzv", "aflibercept-boav", "aflibercept-jbvf"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742982", "DRUGBANK:DB08885", "DrugCentral:4916", "PHAROS:aflibercept", "UNII:15C2VL427D"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750070", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20110615", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5f2e480f-37f8-57a4-be73-5a392289c58b", "medic_reliability": "HIGH", "name": "belatacept", "provided_by": ["infores:medic"], "synonym": ["Belatacept", "belatacept"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742990", "DRUGBANK:DB06681", "DrugCentral:5091", "PHAROS:belatacept", "UNII:E3B2GI648A"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750071", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20171114", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dcdacfc0-af45-5bc4-a9b9-5e805468bf28", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005492"], "medic_reliability": "HIGH", "name": "benralizumab", "provided_by": ["infores:medic"], "synonym": ["BENRALIZUMAB", "Benralizumab", "benralizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742991", "DRUGBANK:DB12023", "DrugCentral:5263", "PHAROS:benralizumab", "UNII:71492GE1FX"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750072", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20141203", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fa3bfd6c-b95b-5570-b18c-c2b81f72b188", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004035"], "medic_reliability": "HIGH", "name": "blinatumomab", "provided_by": ["infores:medic"], "synonym": ["BLINATUMOMAB", "Blinatumomab", "blinatumomab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742992", "DRUGBANK:DB09052", "DrugCentral:4915", "PHAROS:blinatumomab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750074", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20110819", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7e574e1c-ca4a-5b9e-b8d0-a98fa77433ff", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003476"], "medic_reliability": "HIGH", "name": "brentuximab vedotin", "provided_by": ["infores:medic"], "synonym": ["BRENTUXIMAB VEDOTIN", "Brentuximab vedotin", "brentuximab vedotin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742994", "DRUGBANK:DB08870", "DrugCentral:4964", "UNII:7XL5ISS668"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750076", "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20160704", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ef43f9a2-6e15-5b38-b82a-88315e4afe95", "medic_reliability": "HIGH", "name": "brodalumab", "provided_by": ["infores:medic"], "synonym": ["BRODALUMAB", "Brodalumab", "brodalumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1742996", "DRUGBANK:DB11776", "DrugCentral:5179", "PHAROS:brodalumab", "UNII:6ZA31Y954Z"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750086", "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20151116", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7fa0c2c4-8602-5e4a-8824-66217cd18aae", "medic_reliability": "HIGH", "name": "daratumumab", "provided_by": ["infores:medic"], "synonym": ["DARATUMUMAB", "Daratumumab", "daratumumab", "daratumumab and hyaluronidase-fihj"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743007", "DRUGBANK:DB09331", "DrugCentral:5063", "PHAROS:daratumumab", "UNII:4Z63YK6E0E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750089", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20151130", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:68e77e8b-8614-5018-a66e-5fdea77d6912", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004241"], "medic_reliability": "HIGH", "name": "elotuzumab", "provided_by": ["infores:medic"], "synonym": ["ELOTUZUMAB", "Elotuzumab", "elotuzumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743010", "DRUGBANK:DB06317", "DrugCentral:5072", "PHAROS:elotuzumab", "UNII:1351PE5UGS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750107", "medic_mention_id": "MEDICNE:745ab780-a926-5eff-96d2-8329f6d127d0", "medic_reliability": "EXCLUDED", "name": "ibalizumab", "provided_by": ["infores:medic"], "synonym": ["Ibalizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743029", "DRUGBANK:DB12698", "DrugCentral:5279", "PHAROS:ibalizumab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750112", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20160322", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cf5cf2a1-6346-5d2c-9aa6-792bbef5f2b2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005200"], "medic_reliability": "HIGH", "name": "ixekizumab", "provided_by": ["infores:medic"], "synonym": ["IXEKIZUMAB", "Ixekizumab", "ixekizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743034", "DRUGBANK:DB11569", "DrugCentral:5083", "PHAROS:ixekizumab", "UNII:BTY153760O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750113", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20231116", "medic_mention_id": "MEDICNE:fdc1bab9-aeb4-55e0-ad46-25fc589d0371", "medic_reliability": "HIGH", "name": "lebrikizumab", "provided_by": ["infores:medic"], "synonym": ["LEBRIKIZUMAB", "Lebrikizumab", "lebrikizumab"], "xref": ["DRUGBANK:DB11914"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750119", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20120330", "medic_mention_id": "MEDICNE:6d29aebe-3857-54d1-83ad-27d4d6e48b4a", "medic_reliability": "HIGH", "name": "mogamulizumab", "provided_by": ["infores:medic"], "synonym": ["MOGAMULIZUMAB", "Mogamulizumab", "mogamulizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743041", "DRUGBANK:DB12498", "DrugCentral:5031", "PHAROS:mogamulizumab", "UNII:YI437801BE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750125", "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20151124", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1e9a2605-2161-502d-bd4b-7e8b93f123df", "medic_reliability": "HIGH", "name": "necitumumab", "provided_by": ["infores:medic"], "synonym": ["NECITUMUMAB", "Necitumumab", "necitumumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743047", "DRUGBANK:DB09559", "DrugCentral:5071", "PHAROS:necitumumab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750126", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20131101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:48df519e-9b49-5a5f-9474-09515a4ac7d6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002867"], "medic_reliability": "HIGH", "name": "obinutuzumab", "provided_by": ["infores:medic"], "synonym": ["OBINUTUZUMAB", "Obinutuzumab", "obinutuzumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743048", "DRUGBANK:DB08935", "DrugCentral:4983", "PHAROS:obinutuzumab", "UNII:O43472U9X8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750127", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20200521", "medic_mention_id": "MEDICNE:f79c6783-d61b-55d9-80a4-618b0bf09c0e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006218"], "medic_reliability": "MEDIUM", "name": "olokizumab", "provided_by": ["infores:medic"], "synonym": ["Olokizumab", "Олокизумаб"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750139", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20140421", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d21d7cee-0d76-53a6-99dc-ba6d422cda1f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004518"], "medic_reliability": "HIGH", "name": "ramucirumab", "provided_by": ["infores:medic"], "synonym": ["RAMUCIRUMAB", "Ramucirumab", "ramucirumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743062", "DRUGBANK:DB05578", "DrugCentral:4917", "PHAROS:ramucirumab", "UNII:D99YVK4L0X"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750145", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20141226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:14f7bb5b-e66c-544c-a5da-af84090a4c29", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003715"], "medic_reliability": "HIGH", "name": "secukinumab", "provided_by": ["infores:medic"], "synonym": ["SECUKINUMAB", "Secukinumab", "secukinumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743068", "DRUGBANK:DB09029", "DrugCentral:4934", "PHAROS:secukinumab", "UNII:DLG4EML025"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750147", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20140423", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6d6d3b9b-587e-512c-bcb7-d9cc0f10bb59", "medic_reliability": "HIGH", "name": "siltuximab", "provided_by": ["infores:medic"], "synonym": ["Siltuximab", "siltuximab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743070", "DRUGBANK:DB09036", "DrugCentral:4977", "PHAROS:siltuximab", "UNII:T4H8FMA7IM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750150", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20240822", "medic_mention_id": "MEDICNE:6e92c1b2-f10c-5a3f-9399-0b1ab7ef2501", "medic_reliability": "HIGH", "name": "sotatercept", "provided_by": ["infores:medic"], "synonym": ["SOTATERCEPT", "Sotatercept", "sotatercept"], "xref": ["DRUGBANK:DB12118", "UNII:0QI90BTJ37"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750155", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20260108", "medic_mention_id": "MEDICNE:d6e80ab5-13ce-541f-b356-6f88a0aeb2a5", "medic_reliability": "HIGH", "name": "teplizumab", "provided_by": ["infores:medic"], "synonym": ["Teplizumab", "teplizumab"], "xref": ["DRUGBANK:DB06606", "UNII:S4M959U2IJ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750156", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20240924", "medic_mention_id": "MEDICNE:c95e05fc-15fe-5b8d-9ff4-e186fc506b65", "medic_reliability": "HIGH", "name": "teprotumumab", "provided_by": ["infores:medic"], "synonym": ["TEPROTUMUMAB", "Teprotumumab", "teprotumumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743079", "DRUGBANK:DB06343", "DrugCentral:5387", "PHAROS:teprotumumab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750158", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20210617", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b5ea98fa-364e-5fd7-a233-1b0ef3120704", "medic_reliability": "HIGH", "name": "tralokinumab", "provided_by": ["infores:medic"], "synonym": ["Tralokinumab", "tralokinumab", "tralokinumab-ldrm"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743081", "DRUGBANK:DB12169", "DrugCentral:5479", "PHAROS:tralokinumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750159", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20130920", "medic_mention_id": "MEDICNE:48843129-3a6c-5532-8984-99201b5ba0b5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002692"], "medic_reliability": "HIGH", "name": "trastuzumab emtansine", "provided_by": ["infores:medic"], "synonym": ["TRASTUZUMAB EMTANSINE", "Trastuzumab emtansine", "trastuzumab emtansine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743082", "DRUGBANK:DB05773", "DrugCentral:4990", "UNII:SE2KH7T06F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750163", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20140520", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8bf92051-9b89-5d55-9524-d00f724060f7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003697"], "medic_reliability": "HIGH", "name": "vedolizumab", "provided_by": ["infores:medic"], "synonym": ["VEDOLIZUMAB", "Vedolizumab", "vedolizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1743087", "DRUGBANK:DB09033", "DrugCentral:4982", "PHAROS:vedolizumab", "UNII:9RV78Q2002"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750171", "medic_application_numbers": ["050786|205770|217511"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19810101", "medic_features": ["METALLIC_SALT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2fd739e8-311b-59bd-996b-388d1c686d22", "medic_reliability": "HIGH", "name": "bismuth subcitrate", "provided_by": ["infores:medic"], "synonym": ["BISMUTH SUBCITRATE POTASSIUM; METRONIDAZOLE; TETRACYCLINE HYDROCHLORIDE", "Tripotassium Dicitrato Bismuthate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750182", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20181022", "medic_mention_id": "MEDICNE:5dee1c35-d97e-5587-9b14-87119a66d07a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005584"], "medic_reliability": "HIGH", "name": "evogliptin", "provided_by": ["infores:medic"], "synonym": ["Evogliptin", "Evogliptin Tartrate Bulk and Tablets 5 mg", "Эвоглиптин"], "xref": ["CHEMBL.COMPOUND:CHEMBL1779710", "DrugCentral:5239", "PHAROS:8XG3Z4M9HZY6", "PUBCHEM.COMPOUND:25022354", "UNII:09118300L7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750192", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20110309", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76a92b10-bf02-540c-822e-d76acee3cccd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001557"], "medic_reliability": "HIGH", "name": "belimumab", "provided_by": ["infores:medic"], "synonym": ["BELIMUMAB", "Belimumab", "belimumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1789843", "DRUGBANK:DB08879", "DrugCentral:4949", "PHAROS:belimumab", "UNII:73B0K5S26A"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750198", "medic_application_numbers": ["214621"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_earliest_approval_date": "20190108", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:215613e5-9eb1-53a6-b051-6097e4ab342e", "medic_reliability": "HIGH", "name": "relugolix", "provided_by": ["infores:medic"], "synonym": ["RELUGOLIX", "Relugolix", "Relugolix Bulk Drug and Relugolix Tablet 120mg", "relugolix", "relugolix;estradiol;norethisterone acetate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1800159", "DRUGBANK:DB11853", "DrugCentral:5432", "GTOPDB:5586", "PHAROS:N973NW8VMJYN", "PUBCHEM.COMPOUND:10348973", "UNII:P76B05O5V6"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750222", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20210630", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bf471fed-e266-5422-b00d-8f3395f418ee", "medic_reliability": "HIGH", "name": "asparaginase erwinia chrysanthemi", "provided_by": ["infores:medic"], "synonym": ["asparaginase erwinia chrysanthemi (recombinant)-rywn"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750223", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20120117", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c00b991a-748c-5877-be5d-5a0bc98625e9", "medic_reliability": "HIGH", "name": "glucarpidase", "provided_by": ["infores:medic"], "synonym": ["glucarpidase"], "xref": ["UNII:2GFP9BJD79"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750241", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700601", "medic_mention_id": "MEDICNE:e762e6b8-6bff-5d5d-879f-accaa0bf9571", "medic_registration_numbers": ["MOH_RUSSIA:70/356/1"], "medic_reliability": "MEDIUM", "name": "pipofezine", "provided_by": ["infores:medic"], "synonym": ["Pipofezine", "Пипофезин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750246", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19981217", "medic_mention_id": "MEDICNE:ad4d9b72-4ae5-5288-a71a-56c942832d21", "medic_reliability": "MEDIUM", "name": "ropivacaine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ropivacaine Hydrochloride Injection", "盐酸罗哌卡因注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750263", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20131220", "medic_mention_id": "MEDICNE:75d9a283-43f3-54b0-b235-f39270c5f379", "medic_reliability": "HIGH", "name": "levoleucovorin calcium", "provided_by": ["infores:medic"], "synonym": ["CALCIUM LEVOFOLINATE HYDRATE", "LEVOFOLINATE CALCIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750264", "medic_application_numbers": ["021711"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20081222", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d568748e-4514-53f9-a6fe-9b6dc4091ff1", "medic_reliability": "HIGH", "name": "gadofosveset trisodium", "provided_by": ["infores:medic"], "synonym": ["GADOFOSVESET TRISODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750266", "medic_application_numbers": ["020140|203563|203576|206263|206516|207547|207548|208723|210623|210892|211002|211003|213797|217314"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20080307", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:db5a2050-1772-568c-8bb1-27d78058bd29", "medic_reliability": "HIGH", "name": "levoleucovorin", "provided_by": ["infores:medic"], "synonym": ["LEVOLEUCOVORIN", "LEVOLEUCOVORIN CALCIUM", "Levoleucovorin"], "xref": ["DRUGBANK:DB11596", "UNII:990S25980Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750270", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20140220", "medic_mention_id": "MEDICNE:e154e2cf-160e-50dd-81e7-81390f2a3640", "medic_reliability": "MEDIUM", "name": "florbetaben", "provided_by": ["infores:medic"], "synonym": ["florbetaben (18F)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750271", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20130114", "medic_mention_id": "MEDICNE:b8dbeec1-7875-51e5-b281-e64de39aa8a2", "medic_reliability": "MEDIUM", "name": "florbetapir", "provided_by": ["infores:medic"], "synonym": ["FLORBETAPIR (18F)", "florbetapir (18F)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750278", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:f457d9c9-6693-54cc-9bf7-09a775ea6732", "medic_reliability": "MEDIUM", "name": "pinaverium bromide", "provided_by": ["infores:medic"], "synonym": ["Pinaverium Bromide 50mg Film Coated Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750301", "medic_application_numbers": ["022454|213792"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110114", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3558f217-cfca-5c69-9953-607b6dd4b3a1", "medic_reliability": "LOW", "name": "ioflupane", "provided_by": ["infores:medic"], "synonym": ["IOFLUPANE I-123"], "xref": ["UNII:3MM99T8R5Q"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750321", "medic_application_numbers": ["021746"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20120306", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ab32528a-0676-5c53-96b5-25add4374daf", "medic_reliability": "HIGH", "name": "lucinactant", "provided_by": ["infores:medic"], "synonym": ["LUCINACTANT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750322", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20120501", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:33f53621-b0ca-521e-9b9e-efec518e4f9a", "medic_reliability": "HIGH", "name": "taliglucerase alfa", "provided_by": ["infores:medic"], "synonym": ["Taliglucerase alfa", "taliglucerase alfa"], "xref": ["DRUGBANK:DB08876", "UNII:0R4NLX88O4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750343", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20220429", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:877d5829-4d04-554d-841e-a086bec2cfcd", "medic_reliability": "MEDIUM", "name": "aviptadil", "provided_by": ["infores:medic"], "synonym": ["Aviptadil bulk and Aviptadil injection (Each ml vial contains Aviptadil 15 mcg)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750351", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:28d9b1e8-5334-5683-a5df-6e68d529011a", "medic_reliability": "MEDIUM", "name": "phenyramidol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Phenyramidol Hydrochloride 200mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750359", "medic_application_numbers": ["214783"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "20210716", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:16be6a68-d47a-5f8c-b054-c07fe052271a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009274)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "belumosudil", "provided_by": ["infores:medic"], "synonym": ["BELUMOSUDIL MESYLATE", "Belumosudil", "Belumosudil Tablet 200 mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL2005186", "DRUGBANK:DB16703", "DrugCentral:5467", "GTOPDB:9558", "PHAROS:1PV33287WXCU", "PUBCHEM.COMPOUND:11950170", "UNII:834YJF89WO"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:750362", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20120608", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b72322b3-3beb-5808-b3e4-8c8a085ea7d7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007317"], "medic_reliability": "HIGH", "name": "pertuzumab", "provided_by": ["infores:medic"], "synonym": ["PERTUZUMAB", "Pertuzumab", "Pertuzumab + Trastuzumab", "pertuzumab", "pertuzumab;trastuzumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2007641", "DRUGBANK:DB06366", "DrugCentral:4957", "PHAROS:pertuzumab", "UNII:K16AIQ8CTM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75037", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20140506", "medic_mention_id": "MEDICNE:28b3fc8c-2940-58a9-95f3-778c90fce8eb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002548"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)C(c1ccccc1)(c1ccccc1)c1ccccc1.OCc1cc([C@@H](O)CNCCCCCCOCCOCc2c(Cl)cccc2Cl)ccc1O", "name": "vilanterol", "provided_by": ["infores:medic"], "synonym": ["Vilanterol", "Vilanterol + Fluticasone Furoate", "Vilanterol + Umeclidinium Bromide", "Vilanterol + Umeclidinium Bromide + Fluticasone Furoate", "umeclidinium bromide;vilanterol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1198857,CHEMBL1084647", "DRUGBANK:DB09082", "DrugCentral:4799", "GTOPDB:7353", "PHAROS:WUNN6U3AP4Z8", "PUBCHEM.COMPOUND:10184665,46832510", "UNII:028LZY775B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750379", "medic_application_numbers": ["009166"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:906e2de3-7622-59df-a530-8e8349debdd3", "medic_reliability": "HIGH", "name": "hydroxystilbamidine isethionate", "provided_by": ["infores:medic"], "synonym": ["HYDROXYSTILBAMIDINE ISETHIONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750387", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20180216", "medic_mention_id": "MEDICNE:a8a77663-7141-5fc3-9bff-c4ca736a64ca", "medic_reliability": "HIGH", "name": "fludeoxyglucose f 18", "provided_by": ["infores:medic"], "synonym": ["FLUDEOXYGLUCOSE (18F)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750408", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240618", "medic_mention_id": "MEDICNE:b45b931a-f503-517e-a4dd-3397502cc43c", "medic_reliability": "MEDIUM", "name": "dihydrocodeine bitartrate", "provided_by": ["infores:medic"], "synonym": ["Dihydrocodeine Tartrate Tablets", "酒石酸双氢可待因片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750418", "medic_application_numbers": ["016847"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e561cbd4-21a5-53b5-958f-995257c6f023", "medic_reliability": "HIGH", "name": "calcium metrizoate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM METRIZOATE; MEGLUMINE METRIZOATE; METRIZOATE MAGNESIUM; METRIZOATE SODIUM"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:750444", "medic_application_numbers": ["013993|016708"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:dc4c1c58-c631-5051-bfea-5eb7b7dd3b3e", "medic_reliability": "HIGH", "name": "sodium chromate cr 51", "provided_by": ["infores:medic"], "synonym": ["SODIUM CHROMATE CR-51"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75045", "medic_application_numbers": ["202806|217514"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["L01EC02"], "medic_earliest_approval_date": "20130529", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76d21a4a-9b6a-5fe6-9bf9-6b574e9e0d18", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002274"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)c1nc(-c2cccc(NS(=O)(=O)c3c(F)cccc3F)c2F)c(-c2ccnc(N)n2)s1", "name": "dabrafenib", "provided_by": ["infores:medic"], "synonym": ["DABRAFENIB MESYLATE", "Dabrafenib", "Dabrafenib + Trametinib [combination]", "Dabrafenib 50mg/75mg", "dabrafenib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2028663", "DRUGBANK:DB08912", "DrugCentral:4801", "GTOPDB:6494", "PHAROS:FNCP32ZHDMMP", "PUBCHEM.COMPOUND:44462760", "UNII:QGP4HA4G1B"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7508", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081215", "medic_mention_id": "MEDICNE:2df3fa5d-0200-5390-b96c-c5f9552aa5bc", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005647"], "medic_reliability": "HIGH", "name": "framycetin", "provided_by": ["infores:medic"], "synonym": ["Framycetin"], "xref": ["DRUGBANK:DB00452"]}
{"category": ["biolink:Drug"], "id": "CHEBI:750813", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20040601", "medic_mention_id": "MEDICNE:b121175c-6367-5f00-bfe1-71541a0c1ad2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009761)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "insulin detemir", "provided_by": ["infores:medic"], "synonym": ["INSULIN DETEMIR", "Insulin Detemir", "insulin detemir"], "xref": ["CHEMBL.COMPOUND:CHEMBL2104391", "DrugCentral:4985", "UNII:4FT78T86XV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751333", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:167ff7c8-9f52-5e73-9851-2842d75cc9bd", "medic_reliability": "MEDIUM", "name": "propyl docetrizoate", "provided_by": ["infores:medic"], "synonym": ["Propyl Docetrizoate (75% w/v) 20ml"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7514", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20220309", "medic_mention_id": "MEDICNE:f03c2534-d85a-51b2-a8fb-d8a8af6f5369", "medic_reliability": "HIGH", "medic_smiles": "CN(C)C(=O)Oc1cccc([N+](C)(C)C)c1.COS(=O)(=O)[O-]", "name": "neostigmine", "provided_by": ["infores:medic"], "synonym": ["Neostigmine", "Neostigmine Mesylate Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL54126,CHEMBL211471", "DRUGBANK:DB01400", "DrugCentral:1897", "GTOPDB:8993", "PHAROS:3Z543ANGP158", "PUBCHEM.COMPOUND:8246,4456,5824", "UNII:3982TWQ96G"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751429", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:ab914572-2318-531d-b600-86fdbfa14a39", "medic_reliability": "MEDIUM", "name": "oxyclozanide", "provided_by": ["infores:medic"], "synonym": ["Oxyclozanide (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751487", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20071018", "medic_mention_id": "MEDICNE:e7a78e86-eb7b-53cc-b1ee-b92b98edcd6f", "medic_reliability": "MEDIUM", "name": "satranidazole", "provided_by": ["infores:medic"], "synonym": ["Satranidazole (300mg) + Ofloxacin (200mg) Tablet."]}
{"category": ["biolink:Drug"], "id": "CHEBI:751540", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20191216", "medic_mention_id": "MEDICNE:0ce6076a-c362-5020-86fc-511ec175d438", "medic_reliability": "HIGH", "name": "delafloxacin", "provided_by": ["infores:medic"], "synonym": ["Delafloxacin", "delafloxacin"], "xref": ["DRUGBANK:DB11943", "UNII:6315412YVF"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:751541", "medic_application_numbers": ["208610|208611"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20170619", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:acd08dff-9d57-5e85-8ec3-4c43355a5eb2", "medic_reliability": "HIGH", "name": "delafloxacin meglumine", "provided_by": ["infores:medic"], "synonym": ["DELAFLOXACIN MEGLUMINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751571", "medic_application_numbers": ["210910"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20181116", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8f704b5b-3855-51e8-8285-7e5e5b12c135", "medic_reliability": "HIGH", "name": "rifamycin sodium", "provided_by": ["infores:medic"], "synonym": ["RIFAMYCIN SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751573", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20250825", "medic_mention_id": "MEDICNE:02251e33-80c9-5c38-bcd0-2bead2f6fa73", "medic_reliability": "LOW", "name": "selumetinib sulfate", "provided_by": ["infores:medic"], "synonym": ["SELMETINIB SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751580", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20170917", "medic_mention_id": "MEDICNE:4166c525-6bd6-5d79-8c1a-263adec8aeff", "medic_reliability": "HIGH", "name": "telotristat ethyl", "provided_by": ["infores:medic"], "synonym": ["Telotristat ethyl", "telotristat ethyl"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105695", "DRUGBANK:DB12095", "DrugCentral:5214", "PHAROS:XS2MZMD9YL4V", "PUBCHEM.COMPOUND:25181577", "UNII:8G388563M7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7516", "medic_application_numbers": ["203629|204078|207042|208230|208405|209135|209182|209933|210051|210652|210989|212512|212627|212804|212968|213074|213244|216206|216291|216542"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19640430", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5036a134-752d-5400-9c57-dd2e27e21c90", "medic_registration_numbers": ["MOH_RUSSIA:64/228/200"], "medic_reliability": "HIGH", "name": "neostigmine methyl sulfate", "provided_by": ["infores:medic"], "synonym": ["NEOSTIGMINE METHYLSULFATE", "Neostigmine methylsulfate", "Неостигмина метилсульфат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:751608", "medic_application_numbers": ["208854"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20170323", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6f8f76f9-14b9-515f-a109-1aead88eef1e", "medic_reliability": "HIGH", "name": "naldemedine", "provided_by": ["infores:medic"], "synonym": ["NALDEMEDINE TOSYLATE", "Naldemedine", "naldemedine"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105755", "DRUGBANK:DB11691", "DrugCentral:5220", "PHAROS:QAFW35N3FPPK", "PUBCHEM.COMPOUND:54732242", "UNII:03KSI6WLXH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751728", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:5a8f0091-1fe3-5f19-b6c9-4b48f7ce4560", "medic_reliability": "MEDIUM", "name": "cimetropium bromide", "provided_by": ["infores:medic"], "synonym": ["Cimetropium Bromide tablet 50mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751729", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:c3b6e389-0650-5fdf-8bba-4daeed5bfcf0", "medic_reliability": "MEDIUM", "name": "chlorphenoxamine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Chlorphenoxamine Hcl 12mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75176", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia"], "medic_atc_codes": ["G01AF06", "J01XD03", "P01AB03"], "medic_earliest_approval_date": "20041123", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:1e168ebb-8e1a-5429-830e-1887c2dfa44e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000836"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ncc([N+](=O)[O-])n1CC(O)CCl", "name": "ornidazole", "provided_by": ["infores:medic"], "synonym": ["Neomycin + Ornidazole + Prednisolone + Econazole", "Ornidazole", "Ornidazole + Ciprofloxacin", "Ornidazole + Neomycin + Prednisolone + Econazole", "Ornidazole + Ofloxacin", "Ornidazole Capsules", "Ornidazole IP 1 % w/w + Povidone Iodine IP (0.5% w/w available Iodine) 5% w/w Ointment", "Ornidazole Injection", "Ornidazole Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75178", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19740412", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c918f4bc-3caf-5746-bec0-c27d8f34f02b", "medic_registration_numbers": ["MOH_RUSSIA:74/331/62"], "medic_reliability": "MEDIUM", "name": "urea hydrogen peroxide", "provided_by": ["infores:medic"], "synonym": ["Urea peroxide", "Мочевины пероксид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75179", "medic_application_numbers": ["018299|074311|205438"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "usa"], "medic_atc_codes": ["L01BC59", "S01AD02"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:843226b8-0efd-5b8c-8b5d-6a0c5f6fcb6b", "medic_reliability": "HIGH", "medic_smiles": "O=c1[nH]c(=O)n([C@H]2C[C@H](O)[C@@H](CO)O2)cc1C(F)(F)F", "name": "trifluridine", "provided_by": ["infores:medic"], "synonym": ["TRIFLURIDINE", "Tri fluridine Eye Drops 1% w/v", "Trifluridine", "trifluridine;tipiracil"], "xref": ["DRUGBANK:DB00432", "UNII:RMW9V5RW38"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751857", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700330", "medic_mention_id": "MEDICNE:dddb3e8e-893b-5fc2-8337-2396932cba64", "medic_registration_numbers": ["MOH_RUSSIA:70/183/41"], "medic_reliability": "LOW", "name": "camphor, monobromated", "provided_by": ["infores:medic"], "synonym": ["Bromcamphor", "Бромкамфора"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751864", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19970922", "medic_mention_id": "MEDICNE:61e4bbb7-5c93-5407-9865-c084adae2dcb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009206)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "calcium dobesilate", "provided_by": ["infores:medic"], "synonym": ["Calcium Dobesilate 500mg Capsule", "Calcium dobesilate", "Кальция добезилат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:751928", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20130405", "medic_mention_id": "MEDICNE:82f6a544-2634-5e1d-9d05-0609006d3a26", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006790)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "dicolinium iodide", "provided_by": ["infores:medic"], "synonym": ["Dicholine succinate", "Дихолина сукцинат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:751938", "medic_application_numbers": ["017279"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3080a61e-067b-5eb9-91f9-6e028d7782d3", "medic_reliability": "HIGH", "name": "iothalamate sodium i 125", "provided_by": ["infores:medic"], "synonym": ["IOTHALAMATE SODIUM I-125", "Sodium Iothalamate", "Sodium Iothalamate Oral Solution 60% w/v (eq.to 360mg of Iodine per ml)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752031", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:c1e0d987-8d37-5cab-97f5-2240abce09eb", "medic_reliability": "MEDIUM", "name": "ceftiofur hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ceftiofur HCl Suspension (as HCl salt) ----125mg (veterinary)", "Ceftiofur HCl Suspension(as HCl salt) ----500mg (veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752093", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20101210", "medic_mention_id": "MEDICNE:e6814360-b052-5e5f-92a7-097912544e5e", "medic_reliability": "MEDIUM", "name": "dapoxetine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Dapoxetine Hydrochloride Tablets", "盐酸达泊西汀片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752127", "medic_application_numbers": ["016729"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f11a2d1f-e64a-5a0a-be03-a69e6382e606", "medic_reliability": "HIGH", "name": "ferrous citrate fe 59", "provided_by": ["infores:medic"], "synonym": ["FERROUS CITRATE, FE-59"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752252", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:57a9582b-2c20-5fa4-9098-592013ce658a", "medic_reliability": "MEDIUM", "name": "methaqualone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Methaqualone hydrochloride 150mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75228", "medic_application_numbers": ["016692|018186|018249|018947|020004"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4ff70f84-db3a-5919-9295-a05b91ea0197", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004560"], "medic_reliability": "HIGH", "name": "sodium lactate", "provided_by": ["infores:medic"], "synonym": ["SODIUM LACTATE", "Sodium lactate", "Sodium lactate solution (mixture) [Potassium chloride + Calcium chloride + Sodium chloride + Sodium lactate]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752317", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20040121", "medic_mention_id": "MEDICNE:379eaaaf-cc43-5aa2-9258-fbb48681e053", "medic_reliability": "MEDIUM", "name": "midazolam maleate", "provided_by": ["infores:medic"], "synonym": ["Midazolam Maleate Tablets", "马来酸咪达唑仑片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752331", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240822", "medic_mention_id": "MEDICNE:6d62b389-0396-597b-a4ec-a2010f392e3c", "medic_reliability": "HIGH", "name": "polihexanide", "provided_by": ["infores:medic"], "synonym": ["polihexanide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752348", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:e93488a9-9d0d-543d-a765-0a19a93253e1", "medic_registration_numbers": ["MOH_RUSSIA:64/228/196"], "medic_reliability": "MEDIUM", "name": "piperazine edetate calcium", "provided_by": ["infores:medic"], "synonym": ["Piperazine adipate", "Пиперазина адипинат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75237", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:a2951a3b-a200-5096-8e43-63facf4d89b4", "medic_reliability": "HIGH", "name": "[8)-alpha-Neu5Pr-(2->]10", "provided_by": ["infores:medic"], "synonym": ["10"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752415", "medic_application_numbers": ["019829|208870"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19881230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dff94485-7878-5cae-b62b-f27bf357cfa3", "medic_reliability": "HIGH", "name": "technetium tc 99m exametazime", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M EXAMETAZIME KIT"], "xref": ["UNII:3B744AG22N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752435", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080410", "medic_mention_id": "MEDICNE:9dfd22d0-d12e-556a-919a-fe8a44b2c0d1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002826"], "medic_reliability": "MEDIUM", "name": "mesulfamide", "provided_by": ["infores:medic"], "synonym": ["Mesulfamide", "Месульфамид"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75246", "medic_application_numbers": ["021361"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20040525", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6f5f9505-f03c-5a5d-9351-d5138865226d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005689"], "medic_reliability": "HIGH", "medic_smiles": "CO[C@H]1C=CO[C@@]2(C)Oc3c(C)c(O)c4c(O)c(c5c(nc6cc(C)ccn65)c4c3C2=O)NC(=O)C(C)=CC=C[C@H](C)[C@H](O)[C@@H](C)[C@@H](O)[C@@H](C)[C@H](OC(C)=O)[C@@H]1C", "name": "rifaximin", "provided_by": ["infores:medic"], "synonym": ["RIFAXIMIN", "Rifaximin", "Rifaximin 400mg (additional Indication)", "Rifaximin Dispersible Tablet 200mg", "Rifaximin Oral Suspension 100mg/5ml (New Dosage Form)", "Rifaximin Tablet 550 mg (Additional strength and Additional Indication)"], "xref": ["DRUGBANK:DB01220", "UNII:L36O5T016N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75247", "medic_mention_id": "MEDICNE:48b36a0a-767a-5200-8bd2-4ed7124eedb1", "medic_reliability": "EXCLUDED", "name": "pridinol", "provided_by": ["infores:medic"], "synonym": ["Pridinol"], "xref": ["DRUGBANK:DB13642"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752498", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19990806", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:ce9c9641-836b-52b7-9bf3-b6f29045a22a", "medic_reliability": "MEDIUM", "name": "menadione sodium bisulfite", "provided_by": ["infores:medic"], "synonym": ["Menadione Sodium Bisulphite 1mg/0.5ml Injection"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75250", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["J01MB04"], "medic_earliest_approval_date": "20080704", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:72f2b990-38af-5da3-a6e1-301fe72bf43b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003312"], "medic_reliability": "MEDIUM", "medic_smiles": "CCn1cc(C(=O)O)c(=O)c2cnc(N3CCNCC3)nc21", "name": "pipemidic acid", "provided_by": ["infores:medic"], "synonym": ["Pipemidic acid", "Пипемидовая кислота"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752556", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:e25093f1-1770-54a9-b75d-733bd2a1e9c5", "medic_reliability": "MEDIUM", "name": "acotiamide hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Acotiamide Hydrochloride Bulk &"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752673", "medic_application_numbers": ["019882|206489|208994|216820"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19900615", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fc397a87-6d04-5422-b1e2-5cd21f158a18", "medic_reliability": "HIGH", "name": "technetium tc 99m mertiatide", "provided_by": ["infores:medic"], "synonym": ["TECHNETIUM TC-99M MERTIATIDE KIT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752695", "medic_application_numbers": ["010927|011777"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a2f2813a-510a-5a2a-8e01-21e2e717deff", "medic_reliability": "HIGH", "name": "sodium phosphate p 32", "provided_by": ["infores:medic"], "synonym": ["SODIUM PHOSPHATE P-32"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75273", "medic_application_numbers": ["005970|040541|209937"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a6f639ec-645f-5f12-94e0-c35d5d954779", "medic_registration_numbers": ["MOH_RUSSIA:П N014787/01"], "medic_reliability": "HIGH", "name": "sodium tetradecyl sulfate", "provided_by": ["infores:medic"], "synonym": ["SODIUM TETRADECYL SULFATE", "Sodium tetradecyl sulfate"], "xref": ["DRUGBANK:DB00464"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7528", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100224", "medic_mention_id": "MEDICNE:fa91cb25-c5a6-594d-83b2-54eb6eeddc0a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000198"], "medic_reliability": "MEDIUM", "name": "netilmycin", "provided_by": ["infores:medic"], "synonym": ["Netilmicin", "Нетилмицин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752802", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051223", "medic_mention_id": "MEDICNE:8679e45d-29c5-5f15-b1c1-7a05c75f496a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006163)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "trimeperidine", "provided_by": ["infores:medic"], "synonym": ["Trimeperidine", "Тримеперидин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75283", "medic_application_numbers": ["204684"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["P01CX04"], "medic_earliest_approval_date": "20080101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:be82b487-f806-5bcb-b37a-c733447d7730", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCCCCCCOP(=O)([O-])OCC[N+](C)(C)C", "name": "miltefosine", "provided_by": ["infores:medic"], "synonym": ["MILTEFOSINE", "Miltefosin Capsule 10mg/50mg (Additional Indication)", "Miltefosine"], "xref": ["DRUGBANK:DB09031", "UNII:53EY29W7EC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752856", "medic_application_numbers": ["209627"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20180810", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8e86653f-03e7-526f-b6a1-b5295efc9ec3", "medic_reliability": "HIGH", "name": "segesterone", "provided_by": ["infores:medic"], "synonym": ["ETHINYL ESTRADIOL; SEGESTERONE ACETATE"], "xref": ["UNII:09Q5UV3747"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752868", "medic_application_numbers": ["215168"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240927", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:813eab01-951d-5040-b881-a0bc8c36a0e6", "medic_reliability": "HIGH", "name": "flurpiridaz f 18", "provided_by": ["infores:medic"], "synonym": ["FLURPIRIDAZ F-18"], "xref": ["UNII:TY3V24C029"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752880", "medic_application_numbers": ["203496"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20131220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3b7eaae2-6af6-5aa7-80a4-54ade7f7d47b", "medic_reliability": "HIGH", "name": "treprostinil diolamine", "provided_by": ["infores:medic"], "synonym": ["TREPROSTINIL DIOLAMINE"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:752897", "medic_stub": true, "name": "thrombin alfa", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7529", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:9492dcbc-ad11-52a6-b07c-901cf50cea26", "medic_reliability": "MEDIUM", "medic_smiles": "CCN[C@@H]1C[C@H](N)[C@@H](O[C@H]2OC(CN)=CC[C@H]2N)[C@H](O)[C@H]1O[C@H]1OC[C@](C)(O)[C@H](NC)[C@H]1O.CCN[C@@H]1C[C@H](N)[C@@H](O[C@H]2OC(CN)=CC[C@H]2N)[C@H](O)[C@H]1O[C@H]1OC[C@](C)(O)[C@H](NC)[C@H]1O.O=S(=O)(O)O.O=S(=O)(O)O.O=S(=O)(O)O.O=S(=O)(O)O.O=S(=O)(O)O", "name": "netilmicin sulfate", "provided_by": ["infores:medic"], "synonym": ["Netilmicin Sulphate 10mg/25mg/50mg/100mg/ml Injection"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:752908", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110621", "medic_mention_id": "MEDICNE:1a7d4ecd-f8f0-5eb3-98fc-9f4579b98812", "medic_reliability": "HIGH", "name": "azficel-t", "provided_by": ["infores:medic"], "synonym": ["Azficel-T"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752911", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20120928", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4198ed73-a411-5b70-9c41-20832ee99292", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002315"], "medic_reliability": "HIGH", "name": "insulin degludec", "provided_by": ["infores:medic"], "synonym": ["INSULIN DEGLUDEC", "Insulin Degludec", "Insulin Degludec + Insulin Aspart", "insulin degludec", "insulin degludec and insulin aspart", "insulin degludec and liraglutide", "insulin degludec;insulin aspart", "insulin degludec;liraglutide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107869", "DrugCentral:4960", "UNII:54Q18076QB"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:752916", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20190108", "medic_mention_id": "MEDICNE:bdb46259-8e8f-51ae-bf7a-a322283b9277", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008616"], "medic_reliability": "HIGH", "name": "romosozumab", "provided_by": ["infores:medic"], "synonym": ["ROMOSOZUMAB", "Romosozumab", "romosozumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107874", "DRUGBANK:DB11866", "DrugCentral:5362", "PHAROS:romosozumab", "UNII:3VHF2ZD92J"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:752918", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20180323", "medic_mention_id": "MEDICNE:985c0ac9-bdc8-5f82-8a82-c72434e169f0", "medic_reliability": "HIGH", "name": "condoliase", "provided_by": ["infores:medic"], "synonym": ["CONDOLIASE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752926", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20160323", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c95172a3-efc1-544c-a9ca-7b02e8663a87", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004265"], "medic_reliability": "HIGH", "name": "reslizumab", "provided_by": ["infores:medic"], "synonym": ["Reslizumab", "reslizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107884", "DRUGBANK:DB06602", "DrugCentral:5093", "PHAROS:reslizumab", "UNII:35A26E427H"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752927", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19960829", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:56194229-3b1a-55f3-bb1c-7ea4802da628", "medic_reliability": "HIGH", "name": "reteplase", "provided_by": ["infores:medic"], "synonym": ["Reteplase", "reteplase"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107885", "DRUGBANK:DB00015", "DrugCentral:5044", "PHAROS:reteplase"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752933", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "19990412", "medic_mention_id": "MEDICNE:e107bbed-b509-5845-8f91-77ef0f21a2e4", "medic_reliability": "HIGH", "name": "tasonermin", "provided_by": ["infores:medic"], "synonym": ["tasonermin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752941", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19941005", "medic_mention_id": "MEDICNE:688178b3-4bba-521d-89ba-9f2d23f770d4", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-005759/08"], "medic_reliability": "HIGH", "name": "plague vaccine", "provided_by": ["infores:medic"], "synonym": ["Plague Vaccine", "Plague vaccine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752943", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19971020", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:62eb7bcd-ef0c-58e9-bdd7-3362f6d5524b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007968)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "rabies vaccine", "provided_by": ["infores:medic"], "synonym": ["Rabies Vaccine", "Rabies Vaccine Adsorbed"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752944", "medic_application_numbers": ["204508"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20131003", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:15aab55b-d2ca-50ea-b2d3-2ce9085c9c24", "medic_reliability": "HIGH", "name": "olive oil", "provided_by": ["infores:medic"], "synonym": ["OLIVE OIL; SOYBEAN OIL"], "xref": ["UNII:6UYK2W1W1E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:752954", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:fcbca2ae-e0c6-5b0c-be78-72bde3d2597b", "medic_reliability": "MEDIUM", "name": "ox bile", "provided_by": ["infores:medic"], "synonym": ["Bromelin 50mg + Pancratin 400mg + Ox bile 30mg (Enzyme)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:752989", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000204", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e8bbdaeb-aed5-53a9-bf1d-ce7eba61ba1a", "medic_reliability": "HIGH", "name": "poliovirus vaccine inactivated", "provided_by": ["infores:medic"], "synonym": ["Poliovirus Vaccine Inactivated", "Poliovirus Vaccine Inactivated (Human Diploid Cell)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753015", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20260226", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:d6b7aa0b-7f52-513c-8915-fde15543e6e1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(013709)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "macrosalb (99mtc)", "provided_by": ["infores:medic"], "synonym": ["Technetium (99mTc) Macrosalb", "Технеция (99mTc) макросалб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753034", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100505", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:599b8130-11d9-58b0-8ad4-070facbe70f9", "medic_registration_numbers": ["MOH_RUSSIA:П N011146/01"], "medic_reliability": "LOW", "name": "wax, microcrystalline", "provided_by": ["infores:medic"], "synonym": ["Microlax", "Микролакс"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753038", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19890621", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:62f887c2-716b-565b-bdd1-8a4158cdf0fd", "medic_reliability": "HIGH", "name": "bcg live", "provided_by": ["infores:medic"], "synonym": ["BCG Live"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753039", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20100111", "medic_mention_id": "MEDICNE:af084447-1c13-5df0-9145-ac10ba5a2bf5", "medic_reliability": "HIGH", "name": "besilesomab", "provided_by": ["infores:medic"], "synonym": ["besilesomab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753057", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20170328", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1c474555-69e1-50a7-8eb9-905c2fa5d6a0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004503"], "medic_reliability": "HIGH", "name": "ocrelizumab", "provided_by": ["infores:medic"], "synonym": ["Ocrelizumab", "ocrelizumab", "ocrelizumab and hyaluronidase-ocsq"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108041", "DRUGBANK:DB11988", "DrugCentral:5223", "PHAROS:ocrelizumab", "UNII:A10SJL62JY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753062", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241218", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e9604d54-4055-5a13-b1e4-1b9c8c4c0ff5", "medic_reliability": "HIGH", "name": "remestemcel-l", "provided_by": ["infores:medic"], "synonym": ["Remestemcel-l", "remestemcel-L-rknd"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753080", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20130228", "medic_mention_id": "MEDICNE:8a94bc80-e346-59c4-a244-56e9fdc254ce", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002017"], "medic_reliability": "MEDIUM", "name": "cepeginterferon alfa-2b", "provided_by": ["infores:medic"], "synonym": ["Cepeginterferon alfa-2b", "Цепэгинтерферон альфа-2b"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753089", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700804", "medic_mention_id": "MEDICNE:8d56b3e7-428f-59af-b78e-0d9673ae349d", "medic_registration_numbers": ["MOH_RUSSIA:71/528/3"], "medic_reliability": "MEDIUM", "name": "pancreatin", "provided_by": ["infores:medic"], "synonym": ["Pancreatin", "Панкреатин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753090", "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19961209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ddeb9117-39d1-5fec-aeac-9f9ef15bffd0", "medic_reliability": "HIGH", "name": "pancrelipase", "provided_by": ["infores:medic"], "synonym": ["PANCRELIPASE", "Pancrelipase", "pancrelipase"], "xref": ["DRUGBANK:DB00085", "UNII:YOJ58O116E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753091", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090119", "medic_mention_id": "MEDICNE:51e08549-ff32-517b-aa6a-b1ff7afa9bc3", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-000272/09"], "medic_reliability": "MEDIUM", "name": "papain", "provided_by": ["infores:medic"], "synonym": ["Papain", "Папаин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753096", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20160928", "medic_mention_id": "MEDICNE:4204f9ed-b68c-5d29-9a92-df99b221a4a4", "medic_reliability": "HIGH", "name": "trafermin", "provided_by": ["infores:medic"], "synonym": ["TRAFERMIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753101", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080404", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:666b322c-49b5-50b5-a304-50bda2b6c617", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004060)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "sulodexide", "provided_by": ["infores:medic"], "synonym": ["Sulodexide", "Сулодексид"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753115", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20050330", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:097d2b62-dccf-57e7-b996-d911a40f6178", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000312"], "medic_reliability": "MEDIUM", "name": "st. john's wort", "provided_by": ["infores:medic"], "synonym": ["Hypericum", "St. John's Wort", "Зверобоя трава"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753119", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20090723", "medic_mention_id": "MEDICNE:07a6f0c7-1604-518e-97ff-f45251e38f6c", "medic_reliability": "HIGH", "name": "tocofersolan", "provided_by": ["infores:medic"], "synonym": ["tocofersolan"], "xref": ["CHEMBL.COMPOUND:CHEMBL47", "DrugCentral:4280", "PHAROS:85BJCGZ83ZT5", "PUBCHEM.COMPOUND:14985"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753120", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100219", "medic_mention_id": "MEDICNE:17e45f0d-6106-5c40-887c-2abc9aa0638b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005743)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "tetanus antitoxin", "provided_by": ["infores:medic"], "synonym": ["Tetanus antitoxin", "Антитоксин столбнячный"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753147", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:38253ee3-3511-5095-a48e-c1de5eeefcb1", "medic_registration_numbers": ["MOH_RUSSIA:64/228/43"], "medic_reliability": "MEDIUM", "name": "polyvinox", "provided_by": ["infores:medic"], "synonym": ["Polivinox", "Vinilin (Shostakovsky Balm)", "Винилин (Шостаковского бальзам)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753157", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060217", "medic_mention_id": "MEDICNE:1202fde0-b251-5e6f-b11d-4f870d2c77de", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-009717/08"], "medic_reliability": "HIGH", "name": "streptokinase", "provided_by": ["infores:medic"], "synonym": ["Streptokinase"], "xref": ["DRUGBANK:DB00086"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753158", "medic_mention_id": "MEDICNE:0b38f8eb-e99f-5e6b-9d3c-bef3d0aa7f1e", "medic_reliability": "EXCLUDED", "name": "thromboplastin", "provided_by": ["infores:medic"], "synonym": ["Coagulation factor xiii"], "xref": ["DRUGBANK:DB12909"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75316", "medic_application_numbers": ["020572|020573|090910|202819|203918|204395|214860|216462|216513|220418"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "19960430", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cd8fd7c0-c982-5421-8e54-800d1da5ab6a", "medic_reliability": "HIGH", "name": "sodium phenylbutyrate", "provided_by": ["infores:medic"], "synonym": ["SODIUM PHENYLBUTYRATE", "SODIUM PHENYLBUTYRATE; TAURURSODIOL", "Sodium phenylbutyrate", "sodium phenylbutyrate"], "xref": ["DRUGBANK:DBSALT002404"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753174", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100225", "medic_mention_id": "MEDICNE:7eb77cea-7e4b-5845-b536-db4293edb004", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003885"], "medic_reliability": "MEDIUM", "name": "valerian", "provided_by": ["infores:medic"], "synonym": ["Valerian", "Valerian officinalis extract", "Валериана"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753184", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19740124", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:367acbbc-b6e1-5006-8087-df8cce975a17", "medic_reliability": "HIGH", "name": "human coagulation factor viii", "provided_by": ["infores:medic"], "synonym": ["Antihemophilic Factor (Human)", "Antihemophilic Factor (Recombinant)", "human coagulation factor VIII / human von willebrand factor"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753192", "medic_application_numbers": ["202292"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20121231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3b546962-39f0-595f-b58c-1e3befd6f4a3", "medic_reliability": "HIGH", "name": "crofelemer", "provided_by": ["infores:medic"], "synonym": ["CROFELEMER", "Crofelemer"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108184", "DRUGBANK:DB04941", "DrugCentral:4744", "PHAROS:crofelemer", "UNII:PY79D6C8RX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753193", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20100125", "medic_mention_id": "MEDICNE:f71e13cf-1ea1-56cc-ad7b-91003cf9d99e", "medic_reliability": "HIGH", "name": "corifollitropin alfa", "provided_by": ["infores:medic"], "synonym": ["corifollitropin alfa"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108185", "DrugCentral:5245"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753206", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19610101", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:13165bde-51de-5036-9b34-a4337fecb718", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007060)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "dimethicone", "provided_by": ["infores:medic"], "synonym": ["Dimethicone + Pancreatin", "Dimethylpolysiloxane Cream (Tubes of 75g & Jar of 40g)", "Guaiazulene + Dimethicone", "Гвайазулен+Диметикон"], "xref": ["UNII:92RU3N3Y1O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753217", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20010803", "medic_mention_id": "MEDICNE:710d672d-120a-56a5-b329-3a3f7d2d9197", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001102)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "agalsidase alfa", "provided_by": ["infores:medic"], "synonym": ["Agalsidase alfa", "agalsidase alfa"], "xref": ["DRUGBANK:DB15874"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75323", "medic_application_numbers": ["211281"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20071001", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e88e9631-53ba-5675-b161-a4ceac1110e8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001012)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O.OC[C@@H](O)[C@@H](O[C@@H]1O[C@H](CO)[C@H](O)[C@H](O)[C@H]1O)[C@H](O)[C@@H](O)CO", "name": "lactitol", "provided_by": ["infores:medic"], "synonym": ["LACTITOL", "Lactitol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753235", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710806", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:bc3c3192-872a-5ddd-bd35-6883b6fa4e49", "medic_registration_numbers": ["MOH_RUSSIA:71/566/48"], "medic_reliability": "MEDIUM", "name": "cod liver oil", "provided_by": ["infores:medic"], "synonym": ["Cod liver oil", "Рыбий жир из печени трески"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753236", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091002", "medic_mention_id": "MEDICNE:4150a69e-b89c-515a-8389-6c44b2d0d0aa", "medic_registration_numbers": ["MOH_RUSSIA:Р N002107/01"], "medic_reliability": "MEDIUM", "name": "capsicum", "provided_by": ["infores:medic"], "synonym": ["Capsicum Patch", "Перцовый пластырь"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753237", "medic_stub": true, "name": "capsicum oleoresin", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753270", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20100120", "medic_mention_id": "MEDICNE:982fbd98-50ec-5102-b9da-a964550e7aa1", "medic_reliability": "HIGH", "name": "epoetin kappa", "provided_by": ["infores:medic"], "synonym": ["EPOETIN KAPPA [EPOETIN ALFA BIOSIMILAR 1]"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753271", "medic_application_numbers": ["206488"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20160919", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0f741159-fb38-5f9f-8277-f14bd05582f6", "medic_reliability": "HIGH", "name": "eteplirsen", "provided_by": ["infores:medic"], "synonym": ["ETEPLIRSEN", "Eteplirsen"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108278", "DRUGBANK:DB06014", "DrugCentral:5182", "PHAROS:eteplirsen", "UNII:AIW6036FAS"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753274", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20120903", "medic_mention_id": "MEDICNE:e558148d-541a-58ec-ba41-287cda4154b5", "medic_reliability": "HIGH", "name": "catridecacog", "provided_by": ["infores:medic"], "synonym": ["CATRIDECACOG", "catridecacog"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753278", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20131113", "medic_mention_id": "MEDICNE:56c52cef-9ee4-5534-966d-c4534e53e916", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003668"], "medic_reliability": "HIGH", "name": "turoctocog alfa", "provided_by": ["infores:medic"], "synonym": ["TUROCTOCOG ALPHA", "Turoctocog alfa", "turoctocog alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753281", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20091023", "medic_mention_id": "MEDICNE:3820889b-5b0c-599e-8e59-ce054c74058e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003157"], "medic_reliability": "HIGH", "name": "epoetin theta", "provided_by": ["infores:medic"], "synonym": ["Epoetin theta", "epoetin theta"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108290", "DrugCentral:5007"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753299", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20150703", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ad80fda6-b832-56a1-a64d-9cf935bb8243", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005666"], "medic_reliability": "HIGH", "name": "asfotase alfa", "provided_by": ["infores:medic"], "synonym": ["ASFOTASE ALFA", "Asfotase alfa", "Asphotase Alpha", "asfotase alfa"], "xref": ["DRUGBANK:DB09105", "UNII:Z633861EIM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753302", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20140217", "medic_mention_id": "MEDICNE:82e2fcdd-a35e-597a-b798-cc8fb13869b4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002375"], "medic_reliability": "MEDIUM", "name": "nepidermin", "provided_by": ["infores:medic"], "synonym": ["Epidermal Growth Factor", "Фактор роста эпидермальный"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753306", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20140722", "medic_mention_id": "MEDICNE:fe0e56b4-d743-572c-b87a-d68cf37354e4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003522"], "medic_reliability": "HIGH", "name": "simoctocog alfa", "provided_by": ["infores:medic"], "synonym": ["SIMOCTOCOG ALFA", "Simoctocog alfa", "Simoctocog alfa (recombinant human blood clotting factor VIII)", "simoctocog alfa"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753315", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19960223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bc10934a-ce67-5d28-bf9d-28ae29f771d1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006562"], "medic_reliability": "HIGH", "name": "eptacog alfa (activated)", "provided_by": ["infores:medic"], "synonym": ["Coagulation Factor VIIa (Recombinant)", "EPTACOG ALFA (ACTIVATED)", "Eptacog alfa (activated)", "Eptacog alfa [activated]", "eptacog alfa (activated)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753327", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20170602", "medic_mention_id": "MEDICNE:80eba96d-a8ea-50a0-a971-fd454fea3c7f", "medic_reliability": "HIGH", "name": "nonacog beta pegol", "provided_by": ["infores:medic"], "synonym": ["NONACOG BETA PEGOL", "nonacog beta pegol"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753329", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20101028", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9fa90818-c18e-5451-aa5b-69b14320fbef", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001607"], "medic_reliability": "HIGH", "name": "conestat alfa", "provided_by": ["infores:medic"], "synonym": ["C1 Esterase Inhibitor Subcutaneous (Human)", "C1 esterase inhibitor", "Conestat alfa", "conestat alfa"], "xref": ["DRUGBANK:DB09228", "UNII:5QS67N4551"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753332", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20230531", "medic_mention_id": "MEDICNE:ee75b711-4df5-5fb5-b2e5-ee6f513da915", "medic_reliability": "HIGH", "name": "ublituximab", "provided_by": ["infores:medic"], "synonym": ["Ublituximab", "ublituximab"], "xref": ["DRUGBANK:DB11850"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753362", "medic_stub": true, "name": "lanolin", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753365", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:39630ad0-aa97-59ae-b6b1-2d49cbdf0ead", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002655"], "medic_reliability": "MEDIUM", "name": "honey", "provided_by": ["infores:medic"], "synonym": ["Honey", "Мед"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753370", "medic_application_numbers": ["208114"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20131018", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:590fc5a6-c1e1-501d-98db-c8116667a277", "medic_reliability": "HIGH", "name": "defibrotide", "provided_by": ["infores:medic"], "synonym": ["DEFIBROTIDE SODIUM", "Defibrotide", "defibrotide"], "xref": ["DRUGBANK:DB04932", "UNII:568FY5I1YI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753379", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090424", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:2f736ae6-354e-5f0d-9ea4-bf6336bcbd11", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000164"], "medic_reliability": "MEDIUM", "name": "eucalyptus oil", "provided_by": ["infores:medic"], "synonym": ["Eucalyptus Oil", "Eucalyptus Oil + [Levomenthol]", "Эвкалиптовое масло+[Левоментол]"], "xref": ["UNII:2R04ONI662"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753382", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:13549dda-7b7a-5805-88f1-5c7e182a92f0", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002552"], "medic_reliability": "MEDIUM", "name": "betasizofiran", "provided_by": ["infores:medic"], "synonym": ["Sclerosan", "Склеросан"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753388", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100625", "medic_mention_id": "MEDICNE:6330b7fe-c0a1-5118-b73d-ae1c116c2e49", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-005994/10"], "medic_reliability": "LOW", "name": "bovactant", "provided_by": ["infores:medic"], "synonym": ["Alveofact®", "Альвеофакт®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753390", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111221", "medic_mention_id": "MEDICNE:01cadf19-5ef3-565b-b9b1-b90516b39078", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006619)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "diphtheria antitoxin", "provided_by": ["infores:medic"], "synonym": ["Diphtheria Antitoxin", "Антитоксин дифтерийный"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753398", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:bb683d7c-de73-5357-8ab9-89c631b36dee", "medic_reliability": "EXCLUDED", "name": "monteplase", "provided_by": ["infores:medic"], "synonym": ["Monteplase"], "xref": ["DRUGBANK:DB12726"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753399", "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19750822", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2ce636d4-b7db-5fa1-b15e-10b6e106e83d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000120"], "medic_reliability": "HIGH", "name": "menotropins", "provided_by": ["infores:medic"], "synonym": ["HuMoG", "Menotrophin injection 600 IU/ml, 1 ml & 2 ml multi dose vial (Highly purified)", "Menotropins", "menotropins"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753400", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150928", "medic_mention_id": "MEDICNE:62a85a68-74bb-59f5-9e1c-5721b87444a8", "medic_reliability": "HIGH", "name": "mentha oil", "provided_by": ["infores:medic"], "synonym": ["MENTHA OIL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753401", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20151104", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6eb5d6b5-d419-5456-b866-ebc9c381bccb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004794"], "medic_reliability": "HIGH", "name": "mepolizumab", "provided_by": ["infores:medic"], "synonym": ["MEPOLIZUMAB", "Mepolizumab", "mepolizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108429", "DRUGBANK:DB06612", "DrugCentral:5061", "PHAROS:mepolizumab", "UNII:90Z2UF0E52"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753417", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:9820a4ad-5feb-5a0f-90ea-69505f9fa654", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000624"], "medic_reliability": "HIGH", "name": "hetastarch", "provided_by": ["infores:medic"], "synonym": ["Hydroxy ethyl starch 10% Solution for infusion", "Hydroxyethyl starch", "Гидроксиэтилкрахмал"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753434", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19920908", "medic_mention_id": "MEDICNE:9267f4de-f04c-55c8-8eb0-ca2a72966ead", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002056"], "medic_reliability": "HIGH", "name": "ginkgo", "provided_by": ["infores:medic"], "synonym": ["Ginkgo biloba leaf extract", "Ginko Biloba 40mg Film Coated Tablet", "Tanakan®", "Гинкго двулопастного листьев экстракт"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753435", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060825", "medic_mention_id": "MEDICNE:326b3d89-e1ad-5f9c-b925-224e83452b05", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012360)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "ginseng, asian", "provided_by": ["infores:medic"], "synonym": ["Ginseng", "True Ginseng Roots", "Женьшень"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753440", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081211", "medic_mention_id": "MEDICNE:91b81fbb-bc3c-5a37-8b4f-fad90d0d84a0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009134)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "nonoxynol", "provided_by": ["infores:medic"], "synonym": ["Nonoxynol", "Ноноксинол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753454", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:bc15c5fb-3174-56ce-b04a-146c51fdf112", "medic_reliability": "LOW", "name": "kasal", "provided_by": ["infores:medic"], "synonym": ["Nasal drops"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753470", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20051230", "medic_mention_id": "MEDICNE:92e4ade9-8e1a-50a7-b8b5-e0199da5d25c", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001078"], "medic_reliability": "HIGH", "name": "interferon alfa", "provided_by": ["infores:medic"], "synonym": ["INTERFERON ALFA (NAMALWA)", "Interferon alfa", "Interferon alpha"], "xref": ["DRUGBANK:DB05258"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753473", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20091016", "medic_mention_id": "MEDICNE:f4d4e93b-2a05-5f90-8646-dcc90dcd57f4", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000714"], "medic_reliability": "HIGH", "name": "interferon beta", "provided_by": ["infores:medic"], "synonym": ["INTERFERON BETA", "Interferon beta"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753474", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20061013", "medic_mention_id": "MEDICNE:335d172f-17e9-5549-8e3b-759991ebcd51", "medic_registration_numbers": ["MOH_RUSSIA:Р N001919/01"], "medic_reliability": "HIGH", "name": "interferon gamma-1a", "provided_by": ["infores:medic"], "synonym": ["INTERFERON GAMMA-1A", "Immunomax"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753475", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19770923", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3749e7b9-4a42-59a3-97a7-8794cfa9a857", "medic_reliability": "MEDIUM", "name": "hepatitis b immune globulin", "provided_by": ["infores:medic"], "synonym": ["Hepatitis B Immune Globulin (Human)", "human hepatitis B immunoglobulin"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753491", "medic_stub": true, "name": "polacrilin", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753504", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090529", "medic_mention_id": "MEDICNE:1a3d5c60-e783-5265-9081-72cf99131291", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004754"], "medic_reliability": "MEDIUM", "name": "orgotein", "provided_by": ["infores:medic"], "synonym": ["Superoxide Dismutase", "Супероксиддисмутаза"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753505", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19940201", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3695b86e-c99d-5186-9f82-e80c7d1923f1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000545)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "pegaspargase", "provided_by": ["infores:medic"], "synonym": ["PEGASPARGASE", "Pegasparagase", "Pegaspargase", "pegaspargase"], "xref": ["DRUGBANK:DB00059", "UNII:7D96IR0PPM"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753511", "medic_stub": true, "name": "peppermint", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753513", "medic_stub": true, "name": "petrolatum", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753515", "medic_atc_codes": ["A06AB06", "A06AB56"], "medic_mention_id": "MEDICNE:daaa042f-8d76-57df-ac3c-73f618bb3379", "medic_reliability": "EXCLUDED", "name": "senna", "provided_by": ["infores:medic"], "synonym": ["Senna"], "xref": ["DRUGBANK:DB11365"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753528", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19911230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c5f525a9-73d6-50f8-b133-9da9152d5e2c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002677)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "antithrombin iii human", "provided_by": ["infores:medic"], "synonym": ["Antithrombin III", "Antithrombin III (Human)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753532", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080424", "medic_mention_id": "MEDICNE:385b22e4-976c-5d45-babc-e23b065fa79e", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-004126/09"], "medic_reliability": "MEDIUM", "name": "belladonna leaf", "provided_by": ["infores:medic"], "synonym": ["Belladonna Tincture", "Belladonna extract", "Красавки экстракт"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753535", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250210", "medic_mention_id": "MEDICNE:c91b8492-3993-539f-b61e-847ba7a4bc1c", "medic_reliability": "HIGH", "name": "catumaxomab", "provided_by": ["infores:medic"], "synonym": ["catumaxomab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753547", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20071218", "medic_mention_id": "MEDICNE:08674b28-0f06-5f3e-94a2-b1810f2eb3ca", "medic_reliability": "HIGH", "name": "epoetin zeta", "provided_by": ["infores:medic"], "synonym": ["epoetin zeta"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108593", "DrugCentral:5170"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753551", "medic_application_numbers": ["203565"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20130725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e9373c90-5af1-5f3f-953e-646aff9f9cfa", "medic_reliability": "HIGH", "name": "ferric carboxymaltose", "provided_by": ["infores:medic"], "synonym": ["FERRIC CARBOXYMALTOSE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753564", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20170628", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6ef690aa-0f87-5878-8c87-0cf74ca1977e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005883"], "medic_reliability": "HIGH", "name": "inotuzumab ozogamicin", "provided_by": ["infores:medic"], "synonym": ["INOTUZUMAB OZOGAMICIN", "Inotuzumab ozogamicin", "inotuzumab ozogamicin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108611", "DRUGBANK:DB05889", "DrugCentral:5247", "UNII:P93RUU11P7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753589", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20121214", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8b98d814-0af7-5bce-a4f6-627a383ae10f", "medic_reliability": "HIGH", "name": "raxibacumab", "provided_by": ["infores:medic"], "synonym": ["raxibacumab"], "xref": ["UNII:794PGL549S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753608", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20221223", "medic_mention_id": "MEDICNE:bbc2f863-a49a-59dc-b37c-f86fbf284f27", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003453)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "tremelimumab", "provided_by": ["infores:medic"], "synonym": ["TREMELIMUMAB", "Tremelimumab", "tremelimumab"], "xref": ["DRUGBANK:DB11771"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753609", "medic_mention_id": "MEDICNE:4cf2c8a6-a841-5c5e-8862-f104cece5b34", "medic_reliability": "EXCLUDED", "name": "triglycerides, medium-chain", "provided_by": ["infores:medic"], "synonym": ["Medium chain triglycerides"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753618", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20161021", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c9c6e4ed-d3ad-5bf4-9622-e558251c4c6f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006872"], "medic_reliability": "HIGH", "name": "bezlotoxumab", "provided_by": ["infores:medic"], "synonym": ["BEZLOTOXUMAB", "Bezlotuxumab", "bezlotoxumab"], "xref": ["UNII:4H5YMK1H2E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753623", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20170328", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7de095fa-5868-5e53-bce5-144512e8eb92", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005440"], "medic_reliability": "HIGH", "name": "dupilumab", "provided_by": ["infores:medic"], "synonym": ["DUPILUMAB", "Dupilumab", "dupilumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108675", "DRUGBANK:DB12159", "DrugCentral:5224", "PHAROS:dupilumab", "UNII:420K487FSG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753624", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20140214", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:88e8b741-3a41-5701-82c7-1cf14895b10c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005202"], "medic_reliability": "HIGH", "name": "elosulfase alfa", "provided_by": ["infores:medic"], "synonym": ["ELOSULFASE ALFA", "Elosulfase alfa", "elosulfase alfa"], "xref": ["DRUGBANK:DB09051", "UNII:ODJ69JZG85"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753625", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20140718", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:57ff9bad-ea5a-53f3-b90c-cea0a56cf6fe", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003859"], "medic_reliability": "HIGH", "name": "peginterferon beta-1a", "provided_by": ["infores:medic"], "synonym": ["Peginterferon beta-1a", "peginterferon beta-1a"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108677", "DrugCentral:5137", "UNII:I8309403R0"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753629", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20180917", "medic_mention_id": "MEDICNE:ee962a47-c1d1-5667-9b32-830b48d4a04e", "medic_reliability": "HIGH", "name": "tildrakizumab", "provided_by": ["infores:medic"], "synonym": ["TILDRAKIZUMAB", "Tildrakizumab", "tildrakizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108681", "DRUGBANK:DB14004", "DrugCentral:5281", "PHAROS:tildrakizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753642", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070831", "medic_mention_id": "MEDICNE:edd2ff3d-98cc-5030-a4a4-8c10387bbf6e", "medic_registration_numbers": ["MOH_RUSSIA:Р N000034/02"], "medic_reliability": "MEDIUM", "name": "witch hazel", "provided_by": ["infores:medic"], "synonym": ["Witch hazel", "Гамамелис"], "xref": ["UNII:101I4J0U34"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753643", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20050502", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e5a340f0-c36a-56b3-90fd-78a9b5c9ce4e", "medic_reliability": "MEDIUM", "name": "vaccinia immune globulin", "provided_by": ["infores:medic"], "synonym": ["Vaccinia Immune Globulin Intravenous (Human)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753652", "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20100202", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4e37250f-5a3e-57b6-aa89-d7bf47faa72e", "medic_reliability": "HIGH", "name": "collagenase clostridium histolyticum", "provided_by": ["infores:medic"], "synonym": ["COLLAGENASE (CLOSTRIDIUM HISTOLYTICUM)", "collagenase clostridium histolyticum"], "xref": ["UNII:9X7O8V25IT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753664", "medic_application_numbers": ["202207"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "20130313", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ba9d38a7-044d-5e3c-901d-3dc808c2bb5c", "medic_reliability": "MEDIUM", "name": "technetium tc 99m tilmanocept", "provided_by": ["infores:medic"], "synonym": ["Lymphoseek 50mcg kit (each kit contains : Tilmanocept 50mcg, Glycine 0.1mg, Sodium ascorbate 0.1mg, Trehalose dihydrate 16mg, stannous chloride dihydrate 0.015mg, sodium hydoxideq.s, hydrochloric acid q.s, Nitrogen q.s, water for injection q.s)", "TECHNETIUM TC-99M TILMANOCEPT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753665", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20151027", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:18ee125f-2ce3-5ff0-8bc3-47c52c56df49", "medic_reliability": "HIGH", "name": "talimogene laherparepvec", "provided_by": ["infores:medic"], "synonym": ["Talimogene laherparepvec", "talimogene laherparepvec"], "xref": ["DRUGBANK:DB13896", "UNII:07730V90L6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753666", "medic_mention_id": "MEDICNE:b52dcbe9-0cc0-5613-9afe-d756a61d3a6f", "medic_reliability": "EXCLUDED", "name": "calaspargase pegol", "provided_by": ["infores:medic"], "synonym": ["Calaspargase pegol"], "xref": ["DRUGBANK:DB14730"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753668", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20170522", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3bb50571-9473-5d7a-8050-b31a04e9465c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005185"], "medic_reliability": "HIGH", "name": "sarilumab", "provided_by": ["infores:medic"], "synonym": ["SARILUMAB", "Sarilumab", "sarilumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108730", "DRUGBANK:DB11767", "DrugCentral:5237", "PHAROS:sarilumab", "UNII:NU90V55F8I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753689", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091204", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:50b2ff0e-4307-53f6-a8a6-5464b7251241", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001961"], "medic_reliability": "MEDIUM", "name": "peppermint oil", "provided_by": ["infores:medic"], "synonym": ["Peppermint Oil", "Мяты перечной масло"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753690", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19710611", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c241f1bd-42ec-54a0-aa4d-b7089afea928", "medic_reliability": "HIGH", "name": "rho (d) immune globulin", "provided_by": ["infores:medic"], "synonym": ["Rho(D) Immune Globulin (Human)"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753696", "medic_stub": true, "name": "pyrethrum extract", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753698", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700804", "medic_mention_id": "MEDICNE:d72b36cc-cc9d-5ec9-8488-696a6d695132", "medic_registration_numbers": ["MOH_RUSSIA:71/528/36"], "medic_reliability": "MEDIUM", "name": "saccharated pepsin", "provided_by": ["infores:medic"], "synonym": ["Pepsin", "Пепсин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753703", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20581002", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:17aeca92-c634-594d-a25b-6cea6d7d208a", "medic_reliability": "HIGH", "name": "plasma protein fraction", "provided_by": ["infores:medic"], "synonym": ["Plasma Protein Fraction (Human)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753709", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20180921", "medic_mention_id": "MEDICNE:41f03e3a-90e7-5b8a-835c-5048eb19afc5", "medic_reliability": "HIGH", "name": "polyethylene glycol 4000", "provided_by": ["infores:medic"], "synonym": ["MACROGOL 4000"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753718", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20000602", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d4184d0c-18e3-531f-bdfc-877e10dce3b8", "medic_reliability": "HIGH", "name": "tenecteplase", "provided_by": ["infores:medic"], "synonym": ["Tenecteplase", "tenecteplase"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108791", "DRUGBANK:DB00031", "DrugCentral:5066", "PHAROS:tenecteplase", "UNII:WGD229O42W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753722", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19991209", "medic_mention_id": "MEDICNE:85e5a217-65eb-5172-bd66-0bcae15e2279", "medic_reliability": "LOW", "name": "meningococcal polysaccharide vaccine group c", "provided_by": ["infores:medic"], "synonym": ["Meningococcal Polysaccharide Vaccine, Group C"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753748", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000204", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:41dce9d6-0256-594f-8e6d-5e075a0a27c2", "medic_reliability": "HIGH", "name": "typhoid vi polysaccharide vaccine", "provided_by": ["infores:medic"], "synonym": ["Typhoid Vi Polysaccharide Vaccine"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753768", "medic_stub": true, "name": "aluminum zirconium tetrachlorohydrex gly", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753772", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080506", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:f3419530-0b4d-5e9d-9d5b-cc1199029279", "medic_registration_numbers": ["MOH_RUSSIA:П N011132"], "medic_reliability": "MEDIUM", "name": "crospovidone", "provided_by": ["infores:medic"], "synonym": ["Crospovidone", "Кросповидон"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753774", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20540208", "medic_mention_id": "MEDICNE:c6574e9a-0d0a-59e3-8bdd-eae6242ba17d", "medic_reliability": "HIGH", "name": "antivenin (crotalidae) polyvalent", "provided_by": ["infores:medic"], "synonym": ["Antivenin (Crotalidae) Polyvalent"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753781", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20360213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4f5357df-091b-5662-a238-ae6f9b533914", "medic_reliability": "HIGH", "name": "antivenin (latrodectus mactans)", "provided_by": ["infores:medic"], "synonym": ["Antivenin (Latrodectus mactans)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753797", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19991209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cdc073bb-5f64-5a59-a0ce-3be22345010c", "medic_reliability": "HIGH", "name": "tetanus toxoid adsorbed", "provided_by": ["infores:medic"], "synonym": ["Tetanus Toxoid Adsorbed"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753804", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060226", "medic_mention_id": "MEDICNE:d1d17e50-bc75-5046-b500-dca39bcbdc11", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001323"], "medic_reliability": "MEDIUM", "name": "actovegin", "provided_by": ["infores:medic"], "synonym": ["Actovegin", "Actovegin®", "Актовегин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753807", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20010803", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:82603a65-4231-5a69-8e91-14ae4a528c02", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002966)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "agalsidase beta", "provided_by": ["infores:medic"], "synonym": ["AGALSIDASE BETA [AGALSIDASE BETA BIOSIMILAR 1]", "Agalsidase beta", "agalsidase beta"], "xref": ["UNII:RZD65TSM9U"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753809", "medic_stub": true, "name": "albumin, aggregated", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753820", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051111", "medic_mention_id": "MEDICNE:be057974-8bab-562c-a899-06c1d64a7795", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000892"], "medic_reliability": "MEDIUM", "name": "batroxobin", "provided_by": ["infores:medic"], "synonym": ["Batroxobin", "Батроксобин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753822", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20200210", "medic_mention_id": "MEDICNE:47e55f5f-051e-5765-85bf-62576f637b07", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002013"], "medic_reliability": "MEDIUM", "name": "belladonna", "provided_by": ["infores:medic"], "synonym": ["Atropa bella-donna (Belladonna)/Atropa bella-donna (Belladonna)", "Атропа белладонна (Белладонна)/Atropa bella-donna (Belladonna)"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753829", "medic_stub": true, "name": "cocoa butter", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753833", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060908", "medic_mention_id": "MEDICNE:6513826d-87c3-5170-b96b-74b79d8ac606", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001002"], "medic_reliability": "MEDIUM", "name": "chamomile", "provided_by": ["infores:medic"], "synonym": ["Chamomile (Matricaria) Flowers", "Chamomile Flowers", "Ромашки цветки"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753844", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20161219", "medic_mention_id": "MEDICNE:2ea3dedd-161c-59a5-8165-22d3702d7fff", "medic_reliability": "HIGH", "name": "crisantaspase", "provided_by": ["infores:medic"], "synonym": ["CRISANTASPASE", "crisantaspase"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753852", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20040428", "medic_mention_id": "MEDICNE:75152ba1-e3c8-5af5-bf7d-5abc5b0d6c48", "medic_reliability": "MEDIUM", "name": "vibrio cholerae, live attenuated", "provided_by": ["infores:medic"], "synonym": ["cholera vaccine (inactivated, oral)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753863", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20220824", "medic_mention_id": "MEDICNE:be36e91c-ad24-5a41-a103-cabb133526d4", "medic_reliability": "HIGH", "name": "human menopausal gonadotrophins", "provided_by": ["infores:medic"], "synonym": ["HUMAN MENOPAUSAL GONADOTROPHIN"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753867", "medic_stub": true, "name": "hypromellose", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753883", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071109", "medic_mention_id": "MEDICNE:391de26a-8a33-556b-913e-3fa0ea2811dc", "medic_registration_numbers": ["MOH_RUSSIA:П N012924/01"], "medic_reliability": "MEDIUM", "name": "anise oil", "provided_by": ["infores:medic"], "synonym": ["Anise oil", "Аниса масло"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753890", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20670828", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8a8d2b22-cb0d-5248-ba74-1d7a3d357a30", "medic_reliability": "HIGH", "name": "antivenin (micrurus fulvius)", "provided_by": ["infores:medic"], "synonym": ["Antivenin (Micrurus fulvius)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753896", "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:9a0b0610-010a-5659-b42b-e0f9d34c9fd6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005389"], "medic_reliability": "HIGH", "name": "asparaginase", "provided_by": ["infores:medic"], "synonym": ["Asparaginase", "L-ASPARAGINASE", "L-Asparaginase", "asparaginase"], "xref": ["UNII:G4FQ3CKY5R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753901", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061027", "medic_mention_id": "MEDICNE:4fd8130f-8742-5e63-9070-b6973cfe92c4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000470"], "medic_reliability": "MEDIUM", "name": "carbomer 910", "provided_by": ["infores:medic"], "synonym": ["Carbomer", "Карбомер"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:753920", "medic_stub": true, "name": "aluminum sesquichlorohydrate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753928", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20180801", "medic_mention_id": "MEDICNE:6ad34dc9-3d32-5a3a-a632-7a89997bcb9c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004965"], "medic_reliability": "MEDIUM", "name": "bromelains", "provided_by": ["infores:medic"], "synonym": ["Bromelains", "Бромелаины"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753934", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111208", "medic_mention_id": "MEDICNE:6626f7fd-dcd5-5262-93e5-278047d1665a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001334"], "medic_reliability": "MEDIUM", "name": "calcium polystyrene sulfonate", "provided_by": ["infores:medic"], "synonym": ["Calcium polystyrene sulfonate", "Кальция полистиролсульфонат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753942", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19981103", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0da8e746-6aea-5eb2-83f9-4d7a80f8b839", "medic_reliability": "HIGH", "name": "influenza virus vaccine", "provided_by": ["infores:medic"], "synonym": ["Influenza Virus Vaccine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753945", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891010", "medic_mention_id": "MEDICNE:45622b27-1d7c-5c34-ae3a-08035c2082df", "medic_reliability": "MEDIUM", "name": "interferon alfa-n3", "provided_by": ["infores:medic"], "synonym": ["interferon alfa-n3 (human leukocyte derived)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753957", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080918", "medic_mention_id": "MEDICNE:482ff3fb-05d0-5b21-8603-bbb9201a6239", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000541"], "medic_reliability": "MEDIUM", "name": "licorice", "provided_by": ["infores:medic"], "synonym": ["Licorice Syrup", "Солодки сироп"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753962", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090209", "medic_mention_id": "MEDICNE:2cb79698-ea72-560f-b60e-2e8e1abecc1a", "medic_registration_numbers": ["MOH_RUSSIA:П N014540/01-2002"], "medic_reliability": "HIGH", "name": "drotrecogin alfa (activated)", "provided_by": ["infores:medic"], "synonym": ["Drotrecogin alfa", "Drotrecogin alfa [activated]"], "xref": ["DRUGBANK:DB00055"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753965", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:5bd254c2-bbe3-5832-a4be-dae8068ca7c6", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003972)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "lactobacillus acidophilus", "provided_by": ["infores:medic"], "synonym": ["Lactobacillus acidophilus", "Lactobacillus acidophilus + Estriol", "Лактобактерии ацидофильные+Эстриол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753967", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20040608", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:900bc532-0848-5f9e-8872-60b43aaeac55", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000442"], "medic_reliability": "HIGH", "name": "fibrinogen, human", "provided_by": ["infores:medic"], "synonym": ["Fibrinogen (Human)", "Fibrinogen Concentrate (Human)", "Fibrinogen human", "HUMAN FIBRINOGEN", "Human Fibrinogen/Human Thrombin", "human fibrinogen;human thrombin"], "xref": ["DRUGBANK:DB09222"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753968", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080925", "medic_mention_id": "MEDICNE:1fc9b29a-d221-5505-b3e4-cd9e26e95dd9", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-007705/08"], "medic_reliability": "MEDIUM", "name": "horse chestnut", "provided_by": ["infores:medic"], "synonym": ["Aesculus hippocastanum (Aesculus)", "Horse Chestnut Seeds", "Venoplant", "Веноплант"]}
{"category": ["biolink:Drug"], "id": "CHEBI:753987", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "19970716", "medic_mention_id": "MEDICNE:66a039ea-7165-59a3-a577-0fb626aa1b4a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000382)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "epoetin beta", "provided_by": ["infores:medic"], "synonym": ["EPOETIN BETA", "Epoetin beta", "Epoetin beta [methoxypolyethylene glycol]", "epoetin beta"], "xref": ["CHEMBL.COMPOUND:CHEMBL2109092", "DrugCentral:5160"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:753993", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19700821", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:568dc2be-4f55-524e-96a7-8653d7475acd", "medic_reliability": "HIGH", "name": "factor ix complex", "provided_by": ["infores:medic"], "synonym": ["Factor IX Complex"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754003", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:d5c85f31-2002-54f1-976c-783572156a54", "medic_reliability": "MEDIUM", "name": "bismuth aluminate", "provided_by": ["infores:medic"], "synonym": ["Bismuth Aluminate Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754020", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20071224", "medic_mention_id": "MEDICNE:d65936f2-a01d-58ae-a80c-5d1b9d7e8c89", "medic_registration_numbers": ["MOH_RUSSIA:П N013473/01"], "medic_reliability": "HIGH", "name": "lenograstim", "provided_by": ["infores:medic"], "synonym": ["LENOGRASTIM", "Lenograstim"], "xref": ["CHEMBL.COMPOUND:CHEMBL2109128", "DrugCentral:5167", "PHAROS:lenograstim"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754026", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080905", "medic_mention_id": "MEDICNE:60b843c8-93b5-5e70-9c0d-9f31be0cf49a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003463)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "molgramostim", "provided_by": ["infores:medic"], "synonym": ["Molgramostim", "Молграмостим"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754029", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "19990413", "medic_mention_id": "MEDICNE:d517e7a3-4f52-55fc-a802-b3612eabf953", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000581"], "medic_reliability": "HIGH", "name": "moroctocog alfa", "provided_by": ["infores:medic"], "synonym": ["Moroctocog alfa", "moroctocog alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754034", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19991209", "medic_mention_id": "MEDICNE:3cf143f8-c19d-579d-b980-1f4544bcfed2", "medic_reliability": "LOW", "name": "meningococcal polysaccharide vaccine group a", "provided_by": ["infores:medic"], "synonym": ["Meningococcal Polysaccharide Vaccine, Group A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754044", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19720405", "medic_mention_id": "MEDICNE:ed662714-be60-5d37-9b2e-736d00066040", "medic_registration_numbers": ["MOH_RUSSIA:71/273/2"], "medic_reliability": "MEDIUM", "name": "mineral oil", "provided_by": ["infores:medic"], "synonym": ["Liquid paraffin", "Парафин жидкий"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754062", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20020909", "medic_mention_id": "MEDICNE:f4228e20-b74e-5b1b-98a7-c634cc780c05", "medic_reliability": "HIGH", "name": "dibotermin alfa", "provided_by": ["infores:medic"], "synonym": ["dibotermin alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754077", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:c920c990-6195-50b0-9f3b-57ba80a910e7", "medic_registration_numbers": ["MOH_RUSSIA:П N015629/01"], "medic_reliability": "MEDIUM", "name": "fusafungine", "provided_by": ["infores:medic"], "synonym": ["Fusafungine", "Fuzafungin", "Фузафунгин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754090", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20671228", "medic_mention_id": "MEDICNE:fbfa2daa-f502-5cb4-a73b-94eeda7646c2", "medic_reliability": "HIGH", "name": "mumps virus vaccine live", "provided_by": ["infores:medic"], "synonym": ["Mumps Virus Vaccine Live"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754093", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:1ee6fe39-86da-5188-bd4a-7e701ea32e38", "medic_reliability": "EXCLUDED", "name": "nadroparin calcium", "provided_by": ["infores:medic"], "synonym": ["Nadroparin"], "xref": ["DRUGBANK:DB08813"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754094", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20141020", "medic_mention_id": "MEDICNE:d1513979-0288-50d3-b1c8-048414563e8e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002662"], "medic_reliability": "MEDIUM", "name": "coagulation factor ix recombinant human", "provided_by": ["infores:medic"], "synonym": ["NONACOG GAMMA", "Nonacog Alpha", "Nonakog Gamma", "nonacog gamma", "Нонаког альфа"], "xref": ["UNII:382L14738L"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754100", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20251120", "medic_mention_id": "MEDICNE:b788656f-ecb0-51ea-9d25-ec6dccce5601", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012527)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "measles virus vaccine live", "provided_by": ["infores:medic"], "synonym": ["Measles Vaccine (Live)", "Measles Virus Vaccine Live"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754106", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20260109", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:3e7db910-f24f-5156-8c41-672fdd120755", "medic_reliability": "MEDIUM", "name": "pertussis vaccine", "provided_by": ["infores:medic"], "synonym": ["pertussis vaccine (recombinant, acellular, component, adsorbed)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754112", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19690609", "medic_mention_id": "MEDICNE:f6033c41-f2e2-54c5-8e92-66b181b9b133", "medic_reliability": "HIGH", "name": "rubella virus vaccine live", "provided_by": ["infores:medic"], "synonym": ["Rubella Virus Vaccine Live"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754115", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060203", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:7ea90def-7fe5-5804-9ac0-c7d184bfcebb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002005"], "medic_reliability": "MEDIUM", "name": "magnesium aspartate", "provided_by": ["infores:medic"], "synonym": ["Magnesium aspartate", "Magnesium aspartate tetrahydrate", "Potassium and Magnesium Aspartate", "Калия и магния аспарагинат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754140", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19981013", "medic_mention_id": "MEDICNE:0a6bfd0f-d5ce-5af6-91af-2d850383907f", "medic_reliability": "HIGH", "name": "technetium tc 99m nofetumomab merpentan", "provided_by": ["infores:medic"], "synonym": ["nofetumomab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754166", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20210323", "medic_mention_id": "MEDICNE:ebd32531-712f-55d3-8ec6-8d4665151ea2", "medic_reliability": "HIGH", "name": "inebilizumab", "provided_by": ["infores:medic"], "synonym": ["INEBILIZUMAB", "Inebilizumab", "inebilizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2109334", "DRUGBANK:DB12530", "DrugCentral:5397", "PHAROS:inebilizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754224", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20240326", "medic_mention_id": "MEDICNE:fa442ec2-cd62-5e79-9a60-5f8f4c5fc8ed", "medic_reliability": "HIGH", "name": "zolbetuximab", "provided_by": ["infores:medic"], "synonym": ["ZOLBETUXIMAB", "Zolbetuximab", "zolbetuximab"], "xref": ["DRUGBANK:DB15118"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:754310", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20150724", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f891c91c-474b-5dff-82c2-a92efbdf3d4c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004078"], "medic_reliability": "HIGH", "name": "alirocumab", "provided_by": ["infores:medic"], "synonym": ["ALIROCUMAB", "Alirocumab", "alirocumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2109540", "DRUGBANK:DB09302", "DrugCentral:5016", "PHAROS:alirocumab", "UNII:PP0SHH6V16"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754365", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20180830", "medic_mention_id": "MEDICNE:bd3a8d1d-b433-5445-996b-1df0dabdf7a2", "medic_reliability": "HIGH", "name": "caplacizumab", "provided_by": ["infores:medic"], "synonym": ["CAPLACIZUMAB", "Caplacizumab", "caplacizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL2109624", "DRUGBANK:DB06081", "DrugCentral:5308", "PHAROS:caplacizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754373", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250113", "medic_mention_id": "MEDICNE:613ce4f0-a88c-5dbc-82d5-2b9de5be9f89", "medic_reliability": "HIGH", "name": "vilobelimab", "provided_by": ["infores:medic"], "synonym": ["Vilobelimab", "vilobelimab"], "xref": ["DRUGBANK:DB16416"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754399", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080815", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:856261b9-e788-50f6-8ee8-851dd7744c7d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(014472)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "gallium citrate", "provided_by": ["infores:medic"], "synonym": ["Gallium [67Ga] citrate", "Галлия [67Ga] цитрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754400", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20251006", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:03c97ac8-9d02-51c5-8cd7-34a4d5b7cc83", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011973)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "technetium etidronate", "provided_by": ["infores:medic"], "synonym": ["Technetium (99mTc) etidronate", "Технеция (99mТс) этидронат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754402", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150928", "medic_mention_id": "MEDICNE:ebbdaa4a-95c2-5ea4-8fd2-34ff51c231be", "medic_reliability": "LOW", "name": "indium pentetreotide", "provided_by": ["infores:medic"], "synonym": ["INDIUM PENTETOREOTIDE (111IN)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754403", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20250415", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:a80dba21-4c06-502f-b4a9-45c1c54ad0b4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009775)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "technetium pyrophosphate", "provided_by": ["infores:medic"], "synonym": ["[99mTc] Technetium pyrophosphate", "Технеция [99mTc] пирофосфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754404", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "19980204", "medic_mention_id": "MEDICNE:c81be8ff-5672-587d-b5e3-5e105f527124", "medic_reliability": "HIGH", "name": "samarium lexidronam pentasodium", "provided_by": ["infores:medic"], "synonym": ["samarium [153Sm] lexidronam pentasodium"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:754405", "medic_application_numbers": ["018920"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:92f28736-0466-57cb-acfa-a6b1cc855858", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000186"], "medic_reliability": "HIGH", "name": "cyanocobalamin", "provided_by": ["infores:medic"], "synonym": ["ASCORBIC ACID; BIOTIN; CHOLECALCIFEROL; CYANOCOBALAMIN; DEXPANTHENOL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE; RIBOFLAVIN; THIAMINE; TOCOPHEROL ACETATE; VITAMIN A; VITAMIN K", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PHYTONADIONE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE HYDROCHLORIDE; VITAMIN A; VITAMIN E", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE HYDROCHLORIDE; VITAMIN A PALMITATE; VITAMIN E", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE HYDROCHLORIDE; VITAMIN A; VITAMIN E", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE HYDROCHLORIDE; VITAMIN A; VITAMIN E; VITAMIN K", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE HYDROCHLORIDE; RIBOFLAVIN; THIAMINE HYDROCHLORIDE; VITAMIN A; VITAMIN E", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; DEXPANTHENOL; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PYRIDOXINE; RIBOFLAVIN 5'-PHOSPHATE SODIUM; THIAMINE; VITAMIN A; VITAMIN E", "ASCORBIC ACID; BIOTIN; CYANOCOBALAMIN; ERGOCALCIFEROL; FOLIC ACID; NIACINAMIDE; PANTOTHENIC ACID; PHYTONADIONE; PYRIDOXINE; RIBOFLAVIN; THIAMINE; VITAMIN A PALMITATE; VITAMIN E", "CYANOCOBALAMIN", "CYANOCOBALAMIN; CYANOCOBALAMIN CO-57; CYANOCOBALAMIN CO-58", "CYANOCOBALAMIN; TANNIC ACID; ZINC ACETATE", "Cyanocobalamin"], "xref": ["DRUGBANK:DB00115", "UNII:P6YC3EG204"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754411", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia"], "medic_earliest_approval_date": "20080707", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:f169e1a6-ebe5-558d-bb72-5c5c0715a815", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010929)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "sodium pertechnetate", "provided_by": ["infores:medic"], "synonym": ["Sodium pertechnetate [99mTc]", "[99mTc] Sodium Pertechnetate Injection", "Натрия пертехнетат [99mТс]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754417", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210122", "medic_mention_id": "MEDICNE:020b7005-ddad-5e5d-adbd-11b57606a5b9", "medic_reliability": "HIGH", "name": "anamorelin", "provided_by": ["infores:medic"], "synonym": ["ANAMORELIN HYDROCHLORIDE", "Anamorelin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110579", "DRUGBANK:DB06645", "DrugCentral:5487", "PHAROS:MWSNSJTP9HNC", "PUBCHEM.COMPOUND:9828911"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754695", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100827", "medic_mention_id": "MEDICNE:e2dd8522-e9a5-5153-be37-51e5fede1c81", "medic_registration_numbers": ["MOH_RUSSIA:П N012023/01"], "medic_reliability": "MEDIUM", "name": "heptaminol", "provided_by": ["infores:medic"], "synonym": ["Ginkgo biloba leaf extract + heptaminol + troxerutin", "Гинкго двулопастного листьев экстракт+гептаминол+троксерутин"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:754731", "medic_stub": true, "name": "stearyl fumaric acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:754770", "medic_stub": true, "name": "beclomethasone 17-monopropionate", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754803", "medic_application_numbers": ["202342"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130806", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6b96c52a-4d13-559b-835d-6e93dc3119d4", "medic_reliability": "HIGH", "name": "esomeprazole strontium", "provided_by": ["infores:medic"], "synonym": ["ESOMEPRAZOLE STRONTIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:754827", "medic_application_numbers": ["212728"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20200227", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ec1fe1be-2c4c-5e08-a7e4-2b28aa49e189", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008633)-(ГП-RU)"], "medic_reliability": "HIGH", "name": "rimegepant", "provided_by": ["infores:medic"], "synonym": ["RIMEGEPANT SULFATE", "RIMEGEPANT SULFATE HYDRATE", "Rimegepant", "Rimegepant Oral disintegrating tablets (ODT) 75 mg", "rimegepant"], "xref": ["CHEMBL.COMPOUND:CHEMBL2178422", "DRUGBANK:DB12457", "DrugCentral:5381", "PHAROS:76KRM8FBA85G", "PUBCHEM.COMPOUND:51049968", "UNII:997WVV895X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754867", "medic_application_numbers": ["020326"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19931217", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b0668475-bf7c-522f-9750-98fa952c2697", "medic_reliability": "HIGH", "name": "trimetrexate glucuronate", "provided_by": ["infores:medic"], "synonym": ["TRIMETREXATE GLUCURONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754910", "medic_application_numbers": ["203568"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130129", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:52d4dde2-665d-503b-bc78-d41019d029a5", "medic_reliability": "HIGH", "name": "mipomersen", "provided_by": ["infores:medic"], "synonym": ["MIPOMERSEN SODIUM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:754929", "medic_application_numbers": ["022090"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20071017", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:68b89ec7-8f13-5a2c-a036-7115849d1fb1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003365)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "gadoxetic acid", "provided_by": ["infores:medic"], "synonym": ["GADOXETATE DISODIUM", "Gadoxetic acid"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754938", "medic_application_numbers": ["009087|017993|018418|018706|081113|084868|084930|085020|085153|085177|085809|085899|085900|086188|086189|086264|086265|086433|086984|086985|087183|087185|087186|087233|087244|087407|087417|087552|088013|088014|088207|088891|089233|089234"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:44839363-a279-5162-84f1-ee80656c3c62", "medic_reliability": "HIGH", "name": "ergoloid mesylates", "provided_by": ["infores:medic"], "synonym": ["ERGOLOID MESYLATES"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754941", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:40ceec0f-969e-5d23-b754-9383b62b87d3", "medic_reliability": "LOW", "name": "magnesium valproate", "provided_by": ["infores:medic"], "synonym": ["Magnesium Valporate Prolonged release tablet 600mg", "Magnesuim Valproate Tablet 200mg/400mg"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:754951", "medic_application_numbers": ["209884|218444|218459"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20190326", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b3f360a9-ac6d-589b-ba8e-5e88de94de18", "medic_reliability": "HIGH", "name": "siponimod", "provided_by": ["infores:medic"], "synonym": ["SIPONIMOD", "Siponimod", "siponimod"], "xref": ["CHEMBL.COMPOUND:CHEMBL2336071", "DRUGBANK:DB12371", "DrugCentral:5326", "GTOPDB:9289", "PHAROS:MNH4Z54W3PQH", "PUBCHEM.COMPOUND:44599207", "UNII:RR6P8L282I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:754961", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:911c9565-ead0-50bb-bfda-06cd4160c5df", "medic_reliability": "MEDIUM", "name": "ethacridine lactate", "provided_by": ["infores:medic"], "synonym": ["Ethacridine Lactate 1mg/ml Injection"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:755141", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080314", "medic_mention_id": "MEDICNE:b6c0ac94-cf0d-5557-862c-614cac48c0e7", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001836/08"], "medic_reliability": "LOW", "name": "orilotimod", "provided_by": ["infores:medic"], "synonym": ["Timodepressin®", "Тимодепрессин®"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:755192", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20191023", "medic_mention_id": "MEDICNE:004cf8fd-b613-5657-981e-c86420ff65b1", "medic_reliability": "MEDIUM", "name": "ethambutol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ethambutol Hydrochloride Tablets", "盐酸乙胺丁醇片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755197", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060226", "medic_mention_id": "MEDICNE:2c83a1d1-728b-53df-8bc8-16b36c12e255", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000487"], "medic_reliability": "MEDIUM", "name": "troxerutin", "provided_by": ["infores:medic"], "synonym": ["Benzocaine + Sodium Heparin + Dexpanthenol + Troxerutin", "Heptaminol + Ginkgo biloba leaf extract + Troxerutin", "Indomethacin + Troxerutin", "Sodium Heparin + Dexpanthenol + Troxerutin", "Troxerutin", "Троксерутин"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:755290", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20200924", "medic_mention_id": "MEDICNE:5eb02430-82e7-5bfb-b64c-5970d27c06f3", "medic_reliability": "HIGH", "name": "filgotinib", "provided_by": ["infores:medic"], "synonym": ["FILGOTINIB MALEATE", "Filgotinib", "filgotinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3301607", "DRUGBANK:DB14845", "DrugCentral:5419", "GTOPDB:7913", "PHAROS:SFMMTN2P9FP4", "PUBCHEM.COMPOUND:49831257", "UNII:3XVL385Q0M"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:755328", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060908", "medic_mention_id": "MEDICNE:76cc7ba9-f6aa-5da8-acba-65b0198c1d53", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000020"], "medic_reliability": "MEDIUM", "name": "emoxypine", "provided_by": ["infores:medic"], "synonym": ["Ethylmethylhydroxypyridine malate", "Ethylmethylhydroxypyridine succinate", "Ethylmethylhydroxypyridine succinate+[Pyridoxine]", "Methylethylpyridinol", "Этилметилгидроксипиридина сукцинат"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755374", "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20170427", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5e8a4c29-32be-5175-a15f-df89538b554c", "medic_reliability": "HIGH", "name": "cerliponase alfa", "provided_by": ["infores:medic"], "synonym": ["CERLIPONASE ALFA", "Cerliponase alfa", "cerliponase alfa"], "xref": ["DRUGBANK:DB13173", "UNII:X8R2D92QP1"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755379", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20160318", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:64fddfd8-1452-5000-9d67-14cf84866f78", "medic_reliability": "HIGH", "name": "obiltoxaximab", "provided_by": ["infores:medic"], "synonym": ["obiltoxaximab"], "xref": ["UNII:29Z5DNL48C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755410", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20190503", "medic_mention_id": "MEDICNE:704c5e9f-9c2e-54ce-a426-c9dafb982dfe", "medic_reliability": "HIGH", "name": "volanesorsen", "provided_by": ["infores:medic"], "synonym": ["Volanesorsen", "volanesorsen"], "xref": ["CHEMBL.COMPOUND:CHEMBL3544994", "DRUGBANK:DB15067", "DrugCentral:5335", "PHAROS:volanesorsen"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755412", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20151016", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c50db74e-bbbd-5199-a77d-8a6e5b1fbe9c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005017"], "medic_reliability": "HIGH", "name": "idarucizumab", "provided_by": ["infores:medic"], "synonym": ["IDARUCIZUMAB", "Idarucizumab", "idarucizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755436", "medic_application_numbers": ["009436"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d34731f9-a175-5ca8-84ec-09514eb4aefb", "medic_reliability": "HIGH", "name": "acetyldigitoxin", "provided_by": ["infores:medic"], "synonym": ["ACETYLDIGITOXIN"], "xref": ["CHEMBL.COMPOUND:CHEMBL3545057", "DrugCentral:67", "PHAROS:QU5FW1LGKBLA", "PUBCHEM.COMPOUND:5284512", "UNII:0ZV4Q4L2FU"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:755750", "medic_stub": true, "name": "omidenepag", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755766", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20171219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5f01a2fc-882c-5f26-9991-fbecb9cb8edf", "medic_reliability": "HIGH", "name": "voretigene neparvovec", "provided_by": ["infores:medic"], "synonym": ["Voretigene Neparvovec", "Voretigene neparvovec", "voretigene neparvovec"], "xref": ["UNII:2SPI046IKD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755767", "medic_application_numbers": ["214938"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20210826", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dc5e12fe-7927-5fa9-bc21-3ac3cfaeef44", "medic_reliability": "HIGH", "name": "vosoritide", "provided_by": ["infores:medic"], "synonym": ["VOSORITIDE", "Vosoritide", "vosoritide"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707276", "DRUGBANK:DB11928", "DrugCentral:5480", "PHAROS:82S3JF3XBZHG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755772", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080317", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:dbb20284-8adf-5aaf-b9dc-f6c8c5c30388", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-001782/08"], "medic_reliability": "MEDIUM", "name": "magnesium lactate", "provided_by": ["infores:medic"], "synonym": ["Magnesium lactate", "Magnesium lactate dihydrate", "Магния лактата дигидрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755773", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060922", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:5fa375e0-76cf-55cf-a58d-2efe43f6c6bd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004845"], "medic_reliability": "MEDIUM", "name": "magnesium orotate", "provided_by": ["infores:medic"], "synonym": ["Magnesium orotate", "magnesium orotate dihydrate", "магния оротата дигидрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755774", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:a4a8163b-1eb6-53c8-8052-15c0b739828c", "medic_reliability": "HIGH", "name": "ferric sodium citrate", "provided_by": ["infores:medic"], "synonym": ["Ferric Sodium Citrate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755778", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20210122", "medic_mention_id": "MEDICNE:33712640-f47c-5260-903a-c82a8719e5eb", "medic_reliability": "HIGH", "name": "somapacitan", "provided_by": ["infores:medic"], "synonym": ["SOMAPACITAN", "Somapacitan", "somapacitan"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707290", "DRUGBANK:DB15093", "DrugCentral:5413", "PHAROS:somapacitan", "PUBCHEM.COMPOUND:122197536", "UNII:8FOJ430U94"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755787", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:da5a51da-d495-5edc-b6d4-596501e513c4", "medic_reliability": "HIGH", "name": "ferrous ascorbate", "provided_by": ["infores:medic"], "synonym": ["Ferrous Ascorbate + Folic Acid Suspension (Equiv. to elemental iron 30mg + 550mcg per 5ml) (New Dosage Form)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755788", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091029", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:e635d612-c3a2-53dc-a7e3-dd2ab27684f0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002645"], "medic_reliability": "HIGH", "name": "strontium ranelate", "provided_by": ["infores:medic"], "synonym": ["Strontium ranelate"], "xref": ["DRUGBANK:DB09267"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755791", "medic_application_numbers": ["211527"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "20191004", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:968d55a1-a56e-5aab-96a7-6e063f6a3ee9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001233)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "trifarotene", "provided_by": ["infores:medic"], "synonym": ["TRIFAROTENE", "Trifaroten", "Trifarotene", "Trifarotene 50 microgram/g (0.005% w/w) Cream"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707313", "DRUGBANK:DB12808", "DrugCentral:5350", "GTOPDB:9962", "PHAROS:W4BXSF5NLJZG", "PUBCHEM.COMPOUND:11518241", "UNII:0J8RN2W0HK"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755792", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20070720", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ccfacd6f-5a3c-5dd1-b402-dd3571ea86e2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002342)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "methoxy polyethylene glycol-epoetin beta", "provided_by": ["infores:medic"], "synonym": ["Methoxypolyethylene glycol-epoetin beta", "Mircera®", "methoxy polyethylene glycol-epoetin beta"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707314", "DrugCentral:5165", "UNII:LR3UXN0193"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755802", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20180219", "medic_mention_id": "MEDICNE:1c17a2d2-aae1-5307-8823-7f0f0c85e83a", "medic_reliability": "HIGH", "name": "burosumab", "provided_by": ["infores:medic"], "synonym": ["BUROSUMAB", "Burosumab", "burosumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707326", "DRUGBANK:DB14012", "DrugCentral:5282", "PHAROS:burosumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755804", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20181114", "medic_mention_id": "MEDICNE:63cb25e6-0bf1-5ef6-a199-62dce7f482d5", "medic_reliability": "HIGH", "name": "galcanezumab", "provided_by": ["infores:medic"], "synonym": ["GALCANEZUMAB", "Galcanezumab", "galcanezumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707328", "DRUGBANK:DB14042", "DrugCentral:5316", "PHAROS:galcanezumab", "UNII:55KHL3P693"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755824", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20200213", "medic_mention_id": "MEDICNE:3d9be86c-9537-5a96-83f2-fa73980a0f57", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006598"], "medic_reliability": "HIGH", "name": "brolucizumab", "provided_by": ["infores:medic"], "synonym": ["BROLUCIZUMAB", "Brolucizumab", "brolucizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707357", "DRUGBANK:DB14864", "DrugCentral:5363", "PHAROS:brolucizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755825", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20220624", "medic_mention_id": "MEDICNE:32078fc6-c562-51f1-8368-7dcb9030a345", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004749)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "olipudase alfa", "provided_by": ["infores:medic"], "synonym": ["Olipudase alfa", "olipudase alfa"], "xref": ["DRUGBANK:DB12835", "UNII:6D5766Q4OP"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:755830", "medic_stub": true, "name": "voxilaprevir", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755838", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20180823", "medic_mention_id": "MEDICNE:b7a3504d-458a-53c3-b303-71dcbbce246a", "medic_reliability": "HIGH", "name": "vestronidase alfa", "provided_by": ["infores:medic"], "synonym": ["Vestronidase alfa", "vestronidase alfa"], "xref": ["DRUGBANK:DB12366"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755863", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20230915", "medic_mention_id": "MEDICNE:f3d3ec68-af6b-537c-93e8-1f4eb93e7bf8", "medic_reliability": "HIGH", "name": "gefapixant", "provided_by": ["infores:medic"], "synonym": ["gefapixant"], "xref": ["CHEMBL.COMPOUND:CHEMBL3716057", "DrugCentral:5519", "GTOPDB:9540", "PHAROS:9HQF37JNJNW2", "PUBCHEM.COMPOUND:24764487"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755879", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20220916", "medic_mention_id": "MEDICNE:f0c147bb-e976-5925-9948-5ae0f5c736ca", "medic_reliability": "MEDIUM", "name": "lobeglitazone sulfate", "provided_by": ["infores:medic"], "synonym": ["Lobeglitazone Sulfate Tablet 0.5mg and Lobeglitazone Sulfate bulk", "Lobeglitazone Sulfate Tablet 0.5mg and Metformin HCL extended release 500 mg Tablets and Lobeglitazone Sulfate Tablet 0.5mg and Metformin HCL extended release 1000 mg"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755907", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20200629", "medic_mention_id": "MEDICNE:9119acda-f28f-5665-9568-777e9e210c05", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007335"], "medic_reliability": "HIGH", "name": "satralizumab", "provided_by": ["infores:medic"], "synonym": ["SATRALIZUMAB", "Satralizumab", "satralizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3833307", "DRUGBANK:DB15762", "DrugCentral:5409", "PHAROS:satralizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755913", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090305", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_mention_id": "MEDICNE:fda3a9c1-b900-59bc-aa1a-a19c04179363", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006611"], "medic_reliability": "MEDIUM", "name": "aluminum phosphate", "provided_by": ["infores:medic"], "synonym": ["Aluminum phosphate", "Алюминия фосфат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755916", "medic_application_numbers": ["210598"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20181109", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:01682e29-12fd-55fb-91cb-dd85af546385", "medic_reliability": "HIGH", "name": "revefenacin", "provided_by": ["infores:medic"], "synonym": ["REVEFENACIN", "Revefenacin"], "xref": ["CHEMBL.COMPOUND:CHEMBL3833319", "DRUGBANK:DB11855", "DrugCentral:5303", "GTOPDB:10129", "PHAROS:YXM6DBWQMUK7", "PUBCHEM.COMPOUND:11753673", "UNII:G2AE2VE07O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755917", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20220124", "medic_mention_id": "MEDICNE:bca47670-e648-5b73-91f0-3d2d689da3fd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004275)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "eptinezumab", "provided_by": ["infores:medic"], "synonym": ["Eptinezumab", "eptinezumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3833320", "DRUGBANK:DB14040", "DrugCentral:5386", "PHAROS:eptinezumab", "UNII:8202AY8I7H"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755918", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230925", "medic_mention_id": "MEDICNE:c1f3199e-5a57-5c3d-a25f-16eb456585e6", "medic_reliability": "HIGH", "name": "lecanemab", "provided_by": ["infores:medic"], "synonym": ["LECANEMAB", "Lecanemab", "lecanemab"], "xref": ["DRUGBANK:DB14580", "UNII:12PYH0FTU9"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755923", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20080314", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:d906968f-d37c-5324-b228-3171b908fb80", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004000"], "medic_reliability": "HIGH", "name": "inosine pranobex", "provided_by": ["infores:medic"], "synonym": ["Inosine Pranobex", "Inosine pranobex", "Inosine pranobex bulk and Inosine pranobex 500mg tablet", "Инозин пранобекс"], "xref": ["DRUGBANK:DB13156"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755924", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20180726", "medic_mention_id": "MEDICNE:1111ba28-649e-5854-b081-2c4f90de2e3b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006083"], "medic_reliability": "HIGH", "name": "erenumab", "provided_by": ["infores:medic"], "synonym": ["Erenumab", "erenumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3833329", "DRUGBANK:DB14039", "DrugCentral:5284", "PHAROS:erenumab", "UNII:I5I8VB78VT"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755937", "medic_application_numbers": ["215887"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20230425", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:21a6736c-786c-571e-9e67-64c1727a0d0f", "medic_reliability": "HIGH", "name": "tofersen", "provided_by": ["infores:medic"], "synonym": ["TOFERSEN", "Tofersen", "tofersen"], "xref": ["DRUGBANK:DB14782", "UNII:2NU6F9601K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755940", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110928", "medic_mention_id": "MEDICNE:6d358cae-456c-5398-9d77-f371aa47b322", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001887"], "medic_reliability": "MEDIUM", "name": "magaldrate", "provided_by": ["infores:medic"], "synonym": ["Magaldrate", "Magaldrate + Simethicone", "Магалдрат+Симетикон"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755941", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071017", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:391319b4-4883-5962-841a-81f31f11406c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007090)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "hydrotalcite", "provided_by": ["infores:medic"], "synonym": ["Hydrotalcite", "Гидроталцит"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755946", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:dc12c9e1-6054-5505-9ceb-5a4f2664c331", "medic_reliability": "HIGH", "name": "halquinols", "provided_by": ["infores:medic"], "synonym": ["Halquinol"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755949", "medic_application_numbers": ["207648"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20081209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:373c2a3b-ccc3-5ee3-aeaa-6855ec703bf1", "medic_registration_numbers": ["MOH_RUSSIA:П N013935/01"], "medic_reliability": "HIGH", "name": "fish oil", "provided_by": ["infores:medic"], "synonym": ["FISH OIL; MEDIUM CHAIN TRIGLYCERIDES; OLIVE OIL; SOYBEAN OIL", "Fish Oil", "Intravenous fish oil"], "xref": ["UNII:XGF7L72M0F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755952", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20170323", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:213eb4bf-9a60-5914-8460-7591c8b3444f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005886"], "medic_reliability": "HIGH", "name": "avelumab", "provided_by": ["infores:medic"], "synonym": ["AVELUMAB", "Avelumab", "avelumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3833373", "DRUGBANK:DB11945", "DrugCentral:5221", "PHAROS:avelumab", "UNII:KXG2PJ551I"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:755956", "medic_stub": true, "name": "eflapegrastim", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:755960", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20180223", "medic_mention_id": "MEDICNE:e9f582dd-1dda-5f94-ae3f-eaadc05a5053", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005110"], "medic_reliability": "HIGH", "name": "emicizumab", "provided_by": ["infores:medic"], "synonym": ["EMICIZUMAB", "Emicizumab", "emicizumab"], "xref": ["DRUGBANK:DB13923"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:755968", "medic_application_numbers": ["217673"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20250812", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:76277e6f-0688-5c1f-b7f9-33dc591afc26", "medic_reliability": "HIGH", "name": "brensocatib", "provided_by": ["infores:medic"], "synonym": ["BRENSOCATIB", "Brensocatib"], "xref": ["DRUGBANK:DB15638", "UNII:25CG88L0BB"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:756446", "medic_application_numbers": ["208746"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20220610", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1e01e20e-884e-5db2-8656-21b04b7af492", "medic_reliability": "HIGH", "name": "pemetrexed tromethamine", "provided_by": ["infores:medic"], "synonym": ["PEMETREXED DITROMETHAMINE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:756460", "medic_mention_id": "MEDICNE:3470ce02-fd94-5b1f-8520-f0b996bcf3ab", "medic_reliability": "EXCLUDED", "name": "emapalumab", "provided_by": ["infores:medic"], "synonym": ["Emapalumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3989977", "DRUGBANK:DB14724", "DrugCentral:5320", "PHAROS:emapalumab", "UNII:3S252O2Z4X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:756469", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20190618", "medic_mention_id": "MEDICNE:463e2b5d-41b2-50ed-bc3c-af59a3398b8d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001862)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "ravulizumab", "provided_by": ["infores:medic"], "synonym": ["RAVULIZUMAB", "Ravulizumab", "ravulizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3989986", "DRUGBANK:DB11580", "DrugCentral:5322", "PHAROS:ravulizumab"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:757111", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240322", "medic_mention_id": "MEDICNE:b544b6c3-46be-5e83-98a7-3c49e5a87ab8", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004961)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "cefilavancin", "provided_by": ["infores:medic"], "synonym": ["Cefilavancin", "Цефилаванцин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757121", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20140117", "medic_mention_id": "MEDICNE:439fe82f-36aa-58b0-b6b2-9238ec09088d", "medic_reliability": "HIGH", "name": "ipragliflozin l-proline", "provided_by": ["infores:medic"], "synonym": ["IPRAGLIFLOZIN L-PROLINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757125", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20080101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:bbcd8ec6-3043-5817-ad76-ae1e255cfb2a", "medic_reliability": "MEDIUM", "name": "ambroxol acefyllinate", "provided_by": ["infores:medic"], "synonym": ["Acebrophylline Syrup 10mg/ ml", "Acebrophylline Syrup 10mg/ml (Additional Indication)", "Acebrophylline capsules 100mg"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757127", "medic_application_numbers": ["215092"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "20180921", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8a4fb040-a899-59a3-9b35-a2180f6f9aa7", "medic_reliability": "HIGH", "name": "omidenepag isopropyl", "provided_by": ["infores:medic"], "synonym": ["OMIDENEPAG ISOPROPYL", "Omidenepag isopropyl", "Omidenepag isopropyl ophthalmic solution 0.002% w/v"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297666", "DRUGBANK:DB15071", "DrugCentral:5312", "PHAROS:KTXG49SNNLJP", "PUBCHEM.COMPOUND:44230999", "UNII:G0G0H52U6K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757146", "medic_mention_id": "MEDICNE:9e265f74-671e-5a69-8cc1-68d9bd4044cc", "medic_reliability": "EXCLUDED", "name": "nogapendekin alfa", "provided_by": ["infores:medic"], "synonym": ["Nogapendekin alfa"], "xref": ["DRUGBANK:DB18740"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757155", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20210820", "medic_mention_id": "MEDICNE:34dd91a1-8632-54eb-90d9-b9aecb23737f", "medic_reliability": "HIGH", "name": "bimekizumab", "provided_by": ["infores:medic"], "synonym": ["BIMEKIZUMAB", "Bimekizumab", "bimekizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297700", "DRUGBANK:DB12917", "DrugCentral:5478", "PHAROS:bimekizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757164", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20191128", "medic_mention_id": "MEDICNE:faf1d55c-af80-50e2-97b3-2d0048e6bf1e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005945"], "medic_reliability": "HIGH", "name": "bulevirtide", "provided_by": ["infores:medic"], "synonym": ["Bulevirtid", "Bulevirtide", "bulevirtide"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297711", "DRUGBANK:DB15248", "DrugCentral:5417", "PHAROS:bulevirtide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757168", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20241113", "medic_mention_id": "MEDICNE:1e006b61-d368-5ffc-9c2b-3f65ca26ded9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007636)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "camrelizumab", "provided_by": ["infores:medic"], "synonym": ["Camrelizumab", "Камрелизумаб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757176", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20190628", "medic_mention_id": "MEDICNE:ade2ada4-d8d9-5577-ad5d-7f7ff10a7888", "medic_reliability": "HIGH", "name": "cemiplimab", "provided_by": ["infores:medic"], "synonym": ["CEMIPLIMAB", "Cemiplimab", "cemiplimab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297723", "DRUGBANK:DB14707", "DrugCentral:5317", "PHAROS:cemiplimab", "UNII:6QVL057INT"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757181", "medic_mention_id": "MEDICNE:8148736a-87cc-5a13-ab9f-1150e4d15e7d", "medic_reliability": "EXCLUDED", "name": "cosibelimab", "provided_by": ["infores:medic"], "synonym": ["Cosibelimab"], "xref": ["DRUGBANK:DB15770"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757182", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230925", "medic_mention_id": "MEDICNE:5975eeae-fa24-5358-8935-4b7839f90702", "medic_reliability": "HIGH", "name": "concizumab", "provided_by": ["infores:medic"], "synonym": ["CONCIZUMAB", "Concizumab", "concizumab"], "xref": ["DRUGBANK:DB12820"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:757186", "medic_mention_id": "MEDICNE:c6cc7fb9-154c-5264-8a7f-19182262db0e", "medic_reliability": "EXCLUDED", "name": "crizanlizumab", "provided_by": ["infores:medic"], "synonym": ["Crizanlizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297734", "DRUGBANK:DB15271", "DrugCentral:5365", "PHAROS:crizanlizumab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757192", "medic_application_numbers": ["214231"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20210322", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9de83ce4-b03f-5f02-814d-a3417c3b1f92", "medic_reliability": "HIGH", "name": "dasiglucagon", "provided_by": ["infores:medic"], "synonym": ["DASIGLUCAGON HYDROCHLORIDE", "Dasiglucagon", "dasiglucagon"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297741", "DRUGBANK:DB15226", "DrugCentral:5447", "PHAROS:U9PUX4CPK7YR", "UNII:AD4J2O47FQ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757201", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20220915", "medic_mention_id": "MEDICNE:99f3a3db-eb34-5bb1-b5d5-e93a729bd284", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001664)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "faricimab", "provided_by": ["infores:medic"], "synonym": ["FARICIMAB", "Faricimab", "faricimab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297750", "DRUGBANK:DB15303", "DrugCentral:5515", "PHAROS:faricimab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757204", "medic_application_numbers": ["219019"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250328", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0c9d92ee-6eb4-569b-afd1-8f157a4ee5de", "medic_reliability": "HIGH", "name": "fitusiran", "provided_by": ["infores:medic"], "synonym": ["FITUSIRAN SODIUM", "Fitusiran"], "xref": ["UNII:SV9W47ZLE1"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757206", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20190328", "medic_mention_id": "MEDICNE:b6506e54-b5f9-5f89-87a3-58d92c47b678", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006070"], "medic_reliability": "HIGH", "name": "fremanezumab", "provided_by": ["infores:medic"], "synonym": ["Fremanezumab", "fremanezumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297756", "DRUGBANK:DB14041", "DrugCentral:5315", "PHAROS:fremanezumab", "UNII:PF8K38CG54"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757209", "medic_application_numbers": ["212194"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20191120", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:83186c49-aefe-51df-b80c-69ad3171f42d", "medic_reliability": "HIGH", "name": "givosiran", "provided_by": ["infores:medic"], "synonym": ["GIVOSIRAN SODIUM", "Givosiran", "givosiran"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297760", "DRUGBANK:DB15066", "DrugCentral:5354", "PHAROS:givosiran", "UNII:ROV204583W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757211", "medic_application_numbers": ["211970"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20191212", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6195476e-16e4-548d-ad63-c6dd7b487b4d", "medic_reliability": "HIGH", "name": "golodirsen", "provided_by": ["infores:medic"], "synonym": ["GOLODIRSEN", "Golodirsen"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297762", "DRUGBANK:DB15593", "DrugCentral:5357", "PHAROS:golodirsen", "UNII:033072U4MZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757219", "medic_application_numbers": ["211172"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20180706", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b92dc350-f4ee-51a6-bdec-764264671c44", "medic_reliability": "HIGH", "name": "inotersen", "provided_by": ["infores:medic"], "synonym": ["INOTERSEN SODIUM", "Inotersen", "inotersen"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297770", "DRUGBANK:DB14713", "DrugCentral:5319", "PHAROS:inotersen"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757222", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20211209", "medic_mention_id": "MEDICNE:f92eb018-e2ac-593a-8f4e-610224d0fb7e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(014025)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "amivantamab", "provided_by": ["infores:medic"], "synonym": ["AMIVANTAMAB", "Amivantamab", "amivantamab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297774", "DRUGBANK:DB16695", "DrugCentral:5463", "PHAROS:amivantamab", "UNII:0JSR7Z0NB6"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757226", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20221220", "medic_mention_id": "MEDICNE:2c7a4006-ffe6-5533-af39-8ced285a2b89", "medic_reliability": "HIGH", "name": "loncastuximab tesirine", "provided_by": ["infores:medic"], "synonym": ["Loncastuximab tesirine", "loncastuximab tesirine"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297778", "DRUGBANK:DB16222", "DrugCentral:5452"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757227", "medic_application_numbers": ["214103"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20201119", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c0e8ef61-9312-5981-8a5c-2fc410f848c6", "medic_reliability": "HIGH", "name": "lumasiran", "provided_by": ["infores:medic"], "synonym": ["LUMASIRAN SODIUM", "Lumasiran", "lumasiran"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297779", "DRUGBANK:DB15935", "DrugCentral:5415", "PHAROS:lumasiran", "UNII:RZT8C352O1"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757229", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250609", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1a8164aa-cd86-5a31-8cfc-061b6b5bda2a", "medic_reliability": "LOW", "name": "clesrovimab", "provided_by": ["infores:medic"], "synonym": ["clesrovimab-cfor"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757234", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20220603", "medic_mention_id": "MEDICNE:15a2ee64-bfa5-59f9-950c-7a626fb3332a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003673)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "mosunetuzumab", "provided_by": ["infores:medic"], "synonym": ["MOSUNETUZUMAB", "Mosunetuzumab", "mosunetuzumab"], "xref": ["DRUGBANK:DB15434"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757240", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20240326", "medic_mention_id": "MEDICNE:54be51a9-411d-5f22-abd3-d8724f915c28", "medic_reliability": "HIGH", "name": "nemolizumab", "provided_by": ["infores:medic"], "synonym": ["NEMOLIZUMAB", "Nemolizumab", "nemolizumab"], "xref": ["DRUGBANK:DB15252", "UNII:GN465U8B72"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757247", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20230504", "medic_mention_id": "MEDICNE:46b69f41-3a8a-56cf-81f3-9b6ae0c9ccd0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008380)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "pegunigalsidase alfa", "provided_by": ["infores:medic"], "synonym": ["Pegunigalsidase alfa", "Pegunigalzidase alfa", "pegunigalsidase alfa"], "xref": ["DRUGBANK:DB14992"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757248", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20231215", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7cd3186a-1422-5029-819c-3a066888cbaf", "medic_reliability": "HIGH", "name": "pegzilarginase", "provided_by": ["infores:medic"], "synonym": ["Pegzilarginase", "pegzilarginase", "pegzilarginase-nbln"], "xref": ["DRUGBANK:DB14780", "UNII:4YV4KW88GD"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757254", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20231207", "medic_mention_id": "MEDICNE:a4bc7b00-b68d-5182-b822-730f4c6b814a", "medic_reliability": "HIGH", "name": "elranatamab", "provided_by": ["infores:medic"], "synonym": ["ELRANATAMAB", "Elranatamab", "elranatamab"], "xref": ["DRUGBANK:DB15395", "UNII:L0HR9A577V"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757263", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20190215", "medic_mention_id": "MEDICNE:60bd6658-039e-5365-b0ca-4e53f200c022", "medic_reliability": "HIGH", "name": "ropeginterferon alfa-2b", "provided_by": ["infores:medic"], "synonym": ["ROPEGINTERFERON ALFA-2B", "ropeginterferon alfa-2b"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297819", "DrugCentral:5338"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757264", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230925", "medic_mention_id": "MEDICNE:32488362-d6f7-5623-8c04-eacf384a5547", "medic_reliability": "HIGH", "name": "rozanolixizumab", "provided_by": ["infores:medic"], "synonym": ["ROZANOLIXIZUMAB", "Rozanolixizumab", "rozanolixizumab"], "xref": ["DRUGBANK:DB14919"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757274", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20220214", "medic_mention_id": "MEDICNE:747c57e2-7957-53e1-a6a9-f32ae764de43", "medic_reliability": "HIGH", "name": "somatrogon", "provided_by": ["infores:medic"], "synonym": ["Somatrogon", "somatrogon"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297830", "DRUGBANK:DB14960", "DrugCentral:5517", "PHAROS:somatrogon", "UNII:6D848RA61B"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757276", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20220620", "medic_mention_id": "MEDICNE:6693c437-75a7-5a84-8d5a-14b113c1bc1a", "medic_reliability": "HIGH", "name": "sutimlimab", "provided_by": ["infores:medic"], "synonym": ["SUTIMLIMAB", "Sutimlimab", "sutimlimab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297832", "DRUGBANK:DB14996", "DrugCentral:5512", "PHAROS:sutimlimab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757282", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230915", "medic_mention_id": "MEDICNE:7a5238c0-783a-5b5d-a74f-dfddbe037f03", "medic_reliability": "HIGH", "name": "tislelizumab", "provided_by": ["infores:medic"], "synonym": ["TISLELIZUMAB", "Tislelizumab", "tislelizumab"], "xref": ["DRUGBANK:DB14922", "UNII:0KVO411B3N"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757283", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20250327", "medic_mention_id": "MEDICNE:91c028fe-2197-5e62-bfa7-97585f063720", "medic_reliability": "HIGH", "name": "tisotumab vedotin", "provided_by": ["infores:medic"], "synonym": ["TISOTUMAB VEDOTIN", "Tisotumab vedotin", "tisotumab vedotin"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297841", "DRUGBANK:DB16732", "DrugCentral:5477"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757285", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240919", "medic_mention_id": "MEDICNE:878dd0d2-df4f-5bbc-9e83-967f363870fa", "medic_reliability": "HIGH", "name": "toripalimab", "provided_by": ["infores:medic"], "synonym": ["Toripalimab", "toripalimab"], "xref": ["DRUGBANK:DB15043", "UNII:8JXN261VVA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757286", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20200325", "medic_mention_id": "MEDICNE:33f9b8a8-c4e2-5244-9a1d-1893a61ff062", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001242)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "trastuzumab deruxtecan", "provided_by": ["infores:medic"], "synonym": ["TRASTUZUMAB DERUXTECAN", "Trastuzumab deruxtecan", "trastuzumab deruxtecan"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297844", "DRUGBANK:DB14962", "DrugCentral:5367", "UNII:5384HK7574"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757294", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20170706", "medic_mention_id": "MEDICNE:dfb6883c-b5e7-5af2-8ff3-867d7076cd15", "medic_reliability": "HIGH", "name": "cenegermin", "provided_by": ["infores:medic"], "synonym": ["Cenegermin", "cenegermin"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297852", "DRUGBANK:DB13926", "DrugCentral:5235", "PHAROS:cenegermin", "UNII:B6E7K36KT8"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:757380", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240321", "medic_mention_id": "MEDICNE:b4590c5f-1276-5e81-9390-600d7a028c9b", "medic_reliability": "HIGH", "name": "efbemalenograstim alfa", "provided_by": ["infores:medic"], "synonym": ["efbemalenograstim alfa"], "xref": ["UNII:5UPW5HJW3O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757381", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20160316", "medic_mention_id": "MEDICNE:afd20ac3-e2fc-5d02-a0c8-ddcf3a6b1452", "medic_reliability": "HIGH", "name": "coagulation factor x human", "provided_by": ["infores:medic"], "synonym": ["human coagulation factor X"], "xref": ["UNII:0P94UQE6SY"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757383", "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19791221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0b10912f-f947-5592-a32d-65050748fce5", "medic_reliability": "HIGH", "name": "anti-inhibitor coagulant complex", "provided_by": ["infores:medic"], "synonym": ["ANTI-INHIBITOR COAGULANT COMPLEX", "Anti-Inhibitor Coagulant Complex"], "xref": ["UNII:CS849DUN3M"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:757385", "medic_stub": true, "name": "follitropin", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757403", "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bb39f909-5203-5b81-b59b-57fd9fa9867e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012526)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "hepatitis b virus hbsag surface protein antigen", "provided_by": ["infores:medic"], "synonym": ["Hepatitis A Vaccine", "Hepatitis B Vaccine (Recombinant)", "Hepatitis B Vaccine (recombinant DNA)", "Hepatitis B Vaccine (recombinant DNA, adsorbed)", "hepatitis B surface antigen", "hepatitis B vaccine (recombinant DNA)", "hepatitis B (rDNA) vaccine (adjuvanted, adsorbed)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757407", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090518", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:50738e75-c82e-57da-9898-29465920dd48", "medic_registration_numbers": ["MOH_RUSSIA:П N015829/01"], "medic_reliability": "LOW", "name": "haemophilus influenzae type b strain 20752 capsular polysaccharide tetanus toxoid conjugate antigen", "provided_by": ["infores:medic"], "synonym": ["Hiberix®", "Хиберикс®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757410", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20200825", "medic_mention_id": "MEDICNE:2e216f06-7c39-5168-937c-20c52e6b347c", "medic_reliability": "HIGH", "name": "imlifidase", "provided_by": ["infores:medic"], "synonym": ["imlifidase"], "xref": ["CHEMBL.COMPOUND:CHEMBL4297981", "DrugCentral:5418", "PHAROS:imlifidase"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:757449", "medic_mention_id": "MEDICNE:f563dfb0-5b32-5458-be0a-b5571f0ee201", "medic_reliability": "EXCLUDED", "name": "zenocutuzumab", "provided_by": ["infores:medic"], "synonym": ["Zenocutuzumab"], "xref": ["DRUGBANK:DB15559"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757460", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240419", "medic_mention_id": "MEDICNE:f63f9107-cc9a-5ad2-8cff-be89efeff810", "medic_reliability": "HIGH", "name": "retifanlimab", "provided_by": ["infores:medic"], "synonym": ["Retifanlimab", "retifanlimab"], "xref": ["DRUGBANK:DB15766", "UNII:2Y3T5IF01Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757470", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20210826", "medic_mention_id": "MEDICNE:8c78a594-9d35-56bf-906d-95658e99a72b", "medic_reliability": "HIGH", "name": "tafasitamab", "provided_by": ["infores:medic"], "synonym": ["Tafasitamab", "tafasitamab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4298047", "DRUGBANK:DB15044", "DrugCentral:5404", "PHAROS:tafasitamab", "UNII:QQA9MLH692"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:757477", "medic_stub": true, "name": "stem bromelain", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757485", "medic_application_numbers": ["212154"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "20200325", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8a156782-e522-50f0-b5f6-b27502728c82", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006482)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "viltolarsen", "provided_by": ["infores:medic"], "synonym": ["VILTOLARSEN", "Viltolarsen"], "xref": ["CHEMBL.COMPOUND:CHEMBL4298062", "DRUGBANK:DB15005", "DrugCentral:5408", "PHAROS:viltolarsen", "UNII:SXA7YP6EKX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757488", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100602", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:8cad455d-3a46-553f-b1d0-4395320446fa", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000559"], "medic_reliability": "MEDIUM", "name": "omega-3 fatty acids", "provided_by": ["infores:medic"], "synonym": ["Omega-3 triglycerides [EPA/DHA = 1.2/1 – 90%]", "Омега-3 триглицериды [ЭПК/ДГК=1.2/1 - 90%]"], "xref": ["UNII:71M78END5S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757496", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19760812", "medic_features": ["NO_THERAPEUTIC_VALUE", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:adc89916-1d28-5bab-8753-da422484c23e", "medic_registration_numbers": ["MOH_RUSSIA:76/788/4"], "medic_reliability": "MEDIUM", "name": "propolis wax", "provided_by": ["infores:medic"], "synonym": ["Propolis", "Прополис"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7575", "medic_application_numbers": ["018869|076740|077067|077811|090103|201832|203340|213409|216937"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["C08CA06"], "medic_earliest_approval_date": "19881228", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:634e9358-2c5e-5ea5-a2ff-5d1aea4f3f3e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004203"], "medic_reliability": "HIGH", "medic_smiles": "COCCOC(=O)C1=C(C)NC(C)=C(C(=O)OC(C)C)C1c1cccc([N+](=O)[O-])c1", "name": "nimodipine", "provided_by": ["infores:medic"], "synonym": ["NIMODIPINE", "Nimodipine", "Nimodipine Injection", "Nimodipine Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL255033,CHEMBL1428", "DRUGBANK:DB00393", "DrugCentral:1937", "GTOPDB:2523", "PHAROS:SN94S9QMGKGG", "PUBCHEM.COMPOUND:157133,4497", "UNII:57WA9QZ5WH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757503", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240822", "medic_mention_id": "MEDICNE:8b41c240-3389-5fd7-8ca7-4245b7953e5d", "medic_reliability": "HIGH", "name": "odronextamab", "provided_by": ["infores:medic"], "synonym": ["odronextamab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757505", "medic_mention_id": "MEDICNE:bf81cbcd-6ca7-5a3b-85d3-f0ad87747e7d", "medic_reliability": "EXCLUDED", "name": "pozelimab", "provided_by": ["infores:medic"], "synonym": ["Pozelimab"], "xref": ["DRUGBANK:DB15218"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757507", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20200925", "medic_mention_id": "MEDICNE:b35c3087-1779-5cb3-bd0c-0c9eff04f3af", "medic_reliability": "HIGH", "name": "cetuximab sarotalocan", "provided_by": ["infores:medic"], "synonym": ["CETUXIMAB SAROTALOCAN SODIUM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757511", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20230707", "medic_mention_id": "MEDICNE:a142dd44-2e51-5b29-9dfe-f98640288aa1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006350)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "glofitamab", "provided_by": ["infores:medic"], "synonym": ["Glofitamab", "Glofitamb", "glofitamab"], "xref": ["DRUGBANK:DB16371"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757527", "medic_application_numbers": ["212320"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20160218", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:98a88000-abef-545b-a304-a376b7c0001b", "medic_reliability": "HIGH", "name": "ferric maltol", "provided_by": ["infores:medic"], "synonym": ["FERRIC MALTOL", "ferric maltol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757538", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20210421", "medic_mention_id": "MEDICNE:da1620d7-261b-5764-bbed-6a5bfca7db59", "medic_reliability": "HIGH", "name": "dostarlimab", "provided_by": ["infores:medic"], "synonym": ["Dostarlimab", "dostarlimab"], "xref": ["CHEMBL.COMPOUND:CHEMBL4298124", "DRUGBANK:DB15627", "DrugCentral:5451", "PHAROS:dostarlimab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757540", "medic_mention_id": "MEDICNE:143d95d8-5b3c-5f81-9be3-052f0aa0beec", "medic_reliability": "EXCLUDED", "name": "von willebrand factor human", "provided_by": ["infores:medic"], "synonym": ["Von willebrand factor"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757560", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20200629", "medic_mention_id": "MEDICNE:ea3e1c62-2133-56d1-b557-3f9a62a9f733", "medic_reliability": "HIGH", "name": "siponimod fumaric acid", "provided_by": ["infores:medic"], "synonym": ["SIPONIMOD FUMARIC ACID"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757580", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20220614", "medic_mention_id": "MEDICNE:521013cb-ddd3-5575-b10c-861f4ace6d37", "medic_reliability": "HIGH", "name": "linzagolix choline", "provided_by": ["infores:medic"], "synonym": ["linzagolix choline"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757769", "medic_application_numbers": ["212279"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20191107", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:61b51aa6-df0c-5fd7-baaf-b8facc8be5c0", "medic_reliability": "HIGH", "name": "air polymer-type a", "provided_by": ["infores:medic"], "synonym": ["AIR POLYMER-TYPE A"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757787", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20171110", "medic_mention_id": "MEDICNE:19c75a95-213a-5e4c-8469-f6fde5fef03c", "medic_reliability": "HIGH", "name": "padeliporfin", "provided_by": ["infores:medic"], "synonym": ["padeliporfin"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757790", "medic_application_numbers": ["217389"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240626", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:14268b17-3cac-59e9-a6bd-b5ca222347b9", "medic_reliability": "HIGH", "name": "ensifentrine", "provided_by": ["infores:medic"], "synonym": ["ENSIFENTRINE", "Ensifentrine"], "xref": ["DRUGBANK:DB16157", "UNII:3E3D8T1GIX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757803", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20200123", "medic_mention_id": "MEDICNE:e988e2aa-15b3-5384-8db2-f79aaa4cd4a7", "medic_reliability": "HIGH", "name": "remimazolam besylate", "provided_by": ["infores:medic"], "synonym": ["REMIMAZOLAM BESILATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757809", "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20250429", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6e367877-0096-5cd2-be93-f0dba62c1083", "medic_reliability": "HIGH", "name": "nipocalimab", "provided_by": ["infores:medic"], "synonym": ["NIPOCALIMAB", "Nipocalimab", "nipocalimab", "nipocalimab-aahu"], "xref": ["DRUGBANK:DB16257", "UNII:87M90CV8NC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757810", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20220817", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:606e2bca-4302-53a3-8978-07e3f3047fb2", "medic_reliability": "HIGH", "name": "betibeglogene autotemcel", "provided_by": ["infores:medic"], "synonym": ["Betibeglogene autotemcel", "betibeglogene autotemcel"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757811", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250428", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3cb1794a-44bb-5b35-af59-1754bc206c2a", "medic_reliability": "HIGH", "name": "prademagene zamikeracel", "provided_by": ["infores:medic"], "synonym": ["Prademagene zamikeracel"], "xref": ["UNII:4UU2O40RHU"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757815", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240822", "medic_mention_id": "MEDICNE:3b95e92c-eae1-5b7d-ac2a-d4af792fca8d", "medic_reliability": "HIGH", "name": "crovalimab", "provided_by": ["infores:medic"], "synonym": ["Crovalimab", "crovalimab"], "xref": ["DRUGBANK:DB16128"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757817", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:8e7f266b-f16b-5879-966d-1e5b6f9e2936", "medic_reliability": "EXCLUDED", "name": "inbakicept", "provided_by": ["infores:medic"], "synonym": ["Inbakicept"], "xref": ["DRUGBANK:DB16479"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757819", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20220624", "medic_mention_id": "MEDICNE:07594760-fb9e-5447-8732-be9e48548f67", "medic_reliability": "HIGH", "name": "avalglucosidase alfa", "provided_by": ["infores:medic"], "synonym": ["Avalglucosidase alfa", "avalglucosidase alfa"], "xref": ["DRUGBANK:DB16099"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757826", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250423", "medic_mention_id": "MEDICNE:8b2f8acf-ee05-53b0-a492-49451c88e945", "medic_reliability": "HIGH", "name": "beremagene geperpavec", "provided_by": ["infores:medic"], "synonym": ["Beremagene geperpavec", "beremagene geperpavec"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757827", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230320", "medic_mention_id": "MEDICNE:0801681c-393a-50a4-a755-a5eeb900c406", "medic_reliability": "HIGH", "name": "cipaglucosidase alfa", "provided_by": ["infores:medic"], "synonym": ["CIPAGLUCOSIDASE ALFA", "Cipaglucosidase alfa", "cipaglucosidase alfa"], "xref": ["DRUGBANK:DB16708", "UNII:4SED7F4BSG"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757830", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230628", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:88274966-2f99-51e7-b1c5-0e4a0ed1e46c", "medic_reliability": "HIGH", "name": "donislecel", "provided_by": ["infores:medic"], "synonym": ["Donislecel", "donislecel-jujn"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757831", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20220916", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:74af7253-defa-56d0-82be-7ff88a45d174", "medic_reliability": "HIGH", "name": "elivaldogene autotemcel", "provided_by": ["infores:medic"], "synonym": ["Elivaldogene autotemcel", "elivaldogene autotemcel"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757832", "medic_application_numbers": ["217388"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20231221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:87f9a685-1f84-5cf2-a14f-8bc0c5493ed0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(009384)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "eplontersen", "provided_by": ["infores:medic"], "synonym": ["EPLONTERSEN SODIUM", "Eplonterisen", "Eplontersen", "eplontersen"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757843", "medic_application_numbers": ["214511"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240417", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3aeb0cc6-28d8-53d5-a2bb-180881d58feb", "medic_reliability": "HIGH", "name": "pegulicianine acetate", "provided_by": ["infores:medic"], "synonym": ["PEGULICIANINE ACETATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757870", "medic_application_numbers": ["217900"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b6a8a071-44a6-5e1c-ab60-fe1a57ce3cb2", "medic_reliability": "HIGH", "name": "deuruxolitinib", "provided_by": ["infores:medic"], "synonym": ["DEURUXOLITINIB PHOSPHATE", "Deuruxolitinib"], "xref": ["DRUGBANK:DB18847", "UNII:0CA0VSF91Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757877", "medic_mention_id": "MEDICNE:69cad772-b6ef-5eb9-b888-deb5456482cc", "medic_reliability": "EXCLUDED", "name": "ansuvimab", "provided_by": ["infores:medic"], "synonym": ["Ansuvimab"], "xref": ["DRUGBANK:DB16385"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757882", "medic_application_numbers": ["212690"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20200721", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:90f5dd22-8f57-56da-b0cc-36191e7ac06b", "medic_reliability": "HIGH", "name": "calcium oxybate", "provided_by": ["infores:medic"], "synonym": ["CALCIUM OXYBATE; MAGNESIUM OXYBATE; POTASSIUM OXYBATE; SODIUM OXYBATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757889", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20240624", "medic_mention_id": "MEDICNE:4924faf7-ec2e-5404-b587-1a6ae39ec66c", "medic_reliability": "HIGH", "name": "gumarontinib", "provided_by": ["infores:medic"], "synonym": ["GUMARONTINIB HYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757894", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20220926", "medic_mention_id": "MEDICNE:4cc44772-c4e8-5bc8-abe3-3eddf291cc29", "medic_reliability": "HIGH", "name": "valemetostat tosylate", "provided_by": ["infores:medic"], "synonym": ["VALEMETOSTAT TOSILATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757895", "medic_application_numbers": ["215833"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20220323", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:063d30ab-4fb4-5c0a-a5d3-6ef76f45bf0a", "medic_reliability": "HIGH", "name": "lutetium lu-177 vipivotide tetraxetan", "provided_by": ["infores:medic"], "synonym": ["LUTETIUM (177LU) VIPIVOTIDE TETRAXETAN", "LUTETIUM LU-177 VIPIVOTIDE TETRAXETAN", "Lutetium lu-177 vipivotide tetraxetan", "lutetium (177Lu) vipivotide tetraxetan"], "xref": ["DRUGBANK:DB16778"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757924", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20200514", "medic_mention_id": "MEDICNE:f1881f9a-89dd-51d6-a9e6-7c4b91c965d3", "medic_reliability": "HIGH", "name": "centhaquine", "provided_by": ["infores:medic"], "synonym": ["Centhaquine citrate bulk and Centhaquine citrate injection 1.0mg/vial"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757931", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20200123", "medic_mention_id": "MEDICNE:45add4bd-4d44-5329-8d3f-e8ea7d425848", "medic_reliability": "HIGH", "name": "dotinurad", "provided_by": ["infores:medic"], "synonym": ["DOTINURAD"], "xref": ["CHEMBL.COMPOUND:CHEMBL4594446", "DrugCentral:5425", "PHAROS:WWW3L4B5LD4C", "PUBCHEM.COMPOUND:51349053", "UNII:305EB53128"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757939", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150703", "medic_mention_id": "MEDICNE:5669651c-bff0-545c-857c-adac2eba58c4", "medic_reliability": "HIGH", "name": "antithrombin gamma", "provided_by": ["infores:medic"], "synonym": ["ANTITHROMBIN GAMMA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757979", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230821", "medic_mention_id": "MEDICNE:314e3c1b-c8cc-5192-a3fb-6292d835d895", "medic_reliability": "HIGH", "name": "talquetamab", "provided_by": ["infores:medic"], "synonym": ["TALQUETAMAB", "Talquetamab", "talquetamab"], "xref": ["DRUGBANK:DB16678"]}
{"category": ["biolink:Drug"], "id": "CHEBI:757981", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20220823", "medic_mention_id": "MEDICNE:cc0a165e-c095-58eb-86b6-93f9b83bf451", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007451)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "teclistamab", "provided_by": ["infores:medic"], "synonym": ["TECLISTAMAB", "Teclistamab", "teclistamab"], "xref": ["DRUGBANK:DB16655", "UNII:54534MX6Z9"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757982", "medic_application_numbers": ["219164"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20260227", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a88f791d-7fdf-5282-af91-5df84271b5c1", "medic_reliability": "HIGH", "name": "navepegritide", "provided_by": ["infores:medic"], "synonym": ["NAVEPEGRITIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:757985", "medic_application_numbers": ["215515"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_earliest_approval_date": "20220613", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fe44f32e-5786-5682-8d1e-5aea61bd38b1", "medic_reliability": "HIGH", "name": "vutrisiran", "provided_by": ["infores:medic"], "synonym": ["VUTRISIRAN SODIUM", "Vutrisiran", "vutrisiran"], "xref": ["DRUGBANK:DB16699", "UNII:GB4I2JI8UI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758003", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20231212", "medic_mention_id": "MEDICNE:c1442507-bcdb-5ca7-b246-abebcb97ce66", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003967)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "nurulimab", "provided_by": ["infores:medic"], "synonym": ["Nurulimab + Prolgolimab", "Нурулимаб+Пролголимаб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758009", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240724", "medic_mention_id": "MEDICNE:d91d34ce-27a6-5dda-98c1-916de90fadba", "medic_reliability": "HIGH", "name": "sugemalimab", "provided_by": ["infores:medic"], "synonym": ["sugemalimab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758023", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250203", "medic_mention_id": "MEDICNE:e4a3de11-f33f-5ecc-b1cb-bda812c34c67", "medic_reliability": "HIGH", "name": "serplulimab", "provided_by": ["infores:medic"], "synonym": ["serplulimab"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758038", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210323", "medic_mention_id": "MEDICNE:72cd82e1-b3ed-59d1-910c-23412c79fd62", "medic_reliability": "HIGH", "name": "pabinafusp alfa", "provided_by": ["infores:medic"], "synonym": ["PABINAFUSP ALFA"], "xref": ["CHEMBL.COMPOUND:CHEMBL4594565", "DrugCentral:5488"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758054", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20240517", "medic_mention_id": "MEDICNE:1eab09bf-1302-5748-ab38-0a540979cb8f", "medic_reliability": "HIGH", "name": "insulin icodec", "provided_by": ["infores:medic"], "synonym": ["insulin icodec", "insulin icodec;semaglutide"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758057", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20160328", "medic_mention_id": "MEDICNE:3d81ba55-cc59-5a45-9e4c-dfb9d1310e79", "medic_reliability": "HIGH", "name": "antihemophilic factor, pegylated (mw 20000) human sequence recombinant", "provided_by": ["infores:medic"], "synonym": ["RURIOCTOCOG ALFA PEGOL", "rurioctocog alfa pegol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758070", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20140704", "medic_mention_id": "MEDICNE:061dab9f-ded5-5490-bcfd-2b0b437aae9a", "medic_reliability": "HIGH", "name": "eftrenonacog alfa", "provided_by": ["infores:medic"], "synonym": ["EFTRENONACOG ALFA", "eftrenonacog alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758075", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20170104", "medic_mention_id": "MEDICNE:5c8a1c3c-7e68-5df3-8625-6676ba7c9025", "medic_reliability": "HIGH", "name": "lonoctocog alfa", "provided_by": ["infores:medic"], "synonym": ["LONOCTOCOG ALFA", "lonoctocog alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758079", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20240326", "medic_mention_id": "MEDICNE:9c40681f-2f8c-526b-97c6-26af9731949f", "medic_reliability": "HIGH", "name": "apadamtase alfa", "provided_by": ["infores:medic"], "synonym": ["APADAMTASE ALFA", "Apadamtase alfa", "rADAMTS13"], "xref": ["DRUGBANK:DB15164", "UNII:U5SFU33XUX"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758080", "medic_mention_id": "MEDICNE:de9cc9f6-97b1-5299-84de-8db8e2e95364", "medic_reliability": "EXCLUDED", "name": "axatilimab", "provided_by": ["infores:medic"], "synonym": ["Axatilimab"], "xref": ["DRUGBANK:DB16388", "UNII:R96Z451BMC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758086", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20251125", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4b25eb57-f9eb-5349-a5a1-ab6e47c6e348", "medic_reliability": "LOW", "name": "sibeprenlimab", "provided_by": ["infores:medic"], "synonym": ["sibeprenlimab-szsi"], "xref": ["UNII:GHX28QZ7DD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758090", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20200724", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9897ef89-b426-5899-9b69-f8f8339f33f7", "medic_reliability": "HIGH", "name": "brexucabtagene autoleucel", "provided_by": ["infores:medic"], "synonym": ["Brexucabtagene Autoleucel", "Brexucabtagene autoleucel", "brexucabtagene autoleucel"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7581", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N05CD02"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:d147720f-4705-5397-92f0-317c0a94fa85", "medic_registration_numbers": ["MOH_RUSSIA:80/871/4"], "medic_reliability": "HIGH", "medic_smiles": "O=C1CN=C(c2ccccc2)c2cc([N+](=O)[O-])ccc2N1", "name": "nitrazepam", "provided_by": ["infores:medic"], "synonym": ["Nitrazepam", "Nitrazepam 5mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL13209", "DRUGBANK:DB01595", "DrugCentral:1945", "PHAROS:JP8537M7ATPV", "PUBCHEM.COMPOUND:4506", "UNII:9CLV70W7HS"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758122", "medic_application_numbers": ["219249"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20241010", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:56ad3e13-b8f1-59e0-b14b-78dbd189b4b2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(013035)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "inavolisib", "provided_by": ["infores:medic"], "synonym": ["INAVOLISIB", "Inavolisib", "inavolisib"], "xref": ["DRUGBANK:DB15275", "UNII:L4C1UY2NYH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758141", "medic_application_numbers": ["219407"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20250821", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c3802661-116a-516c-893d-ba2dfa3c7431", "medic_reliability": "HIGH", "name": "donidalorsen", "provided_by": ["infores:medic"], "synonym": ["DONIDALORSEN SODIUM", "Donidalorsen", "donidalorsen"], "xref": ["UNII:ZD4D8M32TL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758147", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230622", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c9220b39-f0bf-5297-bacb-11c029c0c16c", "medic_reliability": "HIGH", "name": "delandistrogene moxeparvovec", "provided_by": ["infores:medic"], "synonym": ["Delandistrogene moxeparvovec", "delandistrogene moxeparvovec-rokl"], "xref": ["UNII:2P6QV2ZE52"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758150", "medic_application_numbers": ["215842"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230929", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:816ea94d-aef4-58a1-82d7-6f28f951145e", "medic_reliability": "HIGH", "name": "nedosiran", "provided_by": ["infores:medic"], "synonym": ["NEDOSIRAN SODIUM", "Nedosiran"], "xref": ["UNII:13U9R5J3WL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758152", "medic_application_numbers": ["215064"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20231218", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:95ec85c4-9963-5226-aeca-07cf9df036cb", "medic_reliability": "HIGH", "name": "birch triterpenes", "provided_by": ["infores:medic"], "synonym": ["BIRCH TRITERPENES", "Birch triterpenes"], "xref": ["DRUGBANK:DB16536", "UNII:BX09B0RQR0"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758162", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250627", "medic_mention_id": "MEDICNE:79522f86-123c-56f6-b0d4-715e1ea54fbe", "medic_reliability": "HIGH", "name": "zanidatamab", "provided_by": ["infores:medic"], "synonym": ["Zanidatamab", "zanidatamab"], "xref": ["DRUGBANK:DB15471", "UNII:Z20OC92TDI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758164", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_earliest_approval_date": "20220830", "medic_mention_id": "MEDICNE:9e2eb838-7aeb-5faf-94e2-fa5bcc6e53a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008665"], "medic_reliability": "HIGH", "name": "cilgavimab", "provided_by": ["infores:medic"], "synonym": ["CILGAVIMAB", "Tixagevimab + Cilgavimab [combination]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758171", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20220830", "medic_mention_id": "MEDICNE:31277322-b9dd-51cb-93cc-412d58ab5b04", "medic_reliability": "HIGH", "name": "tixagevimab", "provided_by": ["infores:medic"], "synonym": ["TIXAGEVIMAB"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758175", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20231208", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d77821e0-0198-57c7-928d-2f5ba528dbbe", "medic_reliability": "HIGH", "name": "lovotibeglogene autotemcel", "provided_by": ["infores:medic"], "synonym": ["Lovotibeglogene autotemcel", "lovotibeglogene autotemcel"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7582", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C08CA08"], "medic_earliest_approval_date": "19910101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:c974da6d-beaf-50b7-adf4-83b68e122089", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003289"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)C1=C(C)NC(C)=C(C(=O)OC)C1c1cccc([N+](=O)[O-])c1", "name": "nitrendipine", "provided_by": ["infores:medic"], "synonym": ["Nitrendipine", "Nitrendipine + Enalapril", "Nitrendipine 10mg/20mg Tablet", "Нитрендипин"], "xref": ["CHEMBL.COMPOUND:CHEMBL475534", "DrugCentral:1947", "GTOPDB:2334", "PHAROS:WW68FQ371HYW", "PUBCHEM.COMPOUND:4507", "UNII:9B627AW319"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758219", "medic_application_numbers": ["215310"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20210915", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:94372bd5-644e-5679-a5f7-dd9facdfeca6", "medic_reliability": "HIGH", "name": "mobocertinib", "provided_by": ["infores:medic"], "synonym": ["MOBOCERTINIB SUCCINATE", "Mobocertinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4650319", "DRUGBANK:DB16390", "DrugCentral:5471", "PHAROS:59C6R4DUVBRF", "PUBCHEM.COMPOUND:118607832"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758256", "medic_application_numbers": ["219713"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20250611", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fe05edd4-b88c-50ff-a203-4886fd97a7c7", "medic_reliability": "HIGH", "name": "taletrectinib adipate", "provided_by": ["infores:medic"], "synonym": ["TALETRECTINIB ADIPATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758270", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081013", "medic_mention_id": "MEDICNE:d644c9b6-3ccf-5fb4-a0c4-4e8a12f806b4", "medic_registration_numbers": ["MOH_RUSSIA:Р N002935/03"], "medic_reliability": "LOW", "name": "azoximer bromide", "provided_by": ["infores:medic"], "synonym": ["Polyoxidonium®", "Полиоксидоний®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758284", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20230922", "medic_mention_id": "MEDICNE:2c877c03-2445-5fc3-8b5d-254a628691b5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008427)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "epcoritamab", "provided_by": ["infores:medic"], "synonym": ["EPCORITAMAB", "Epcoritamab", "epcoritamab"], "xref": ["DRUGBANK:DB16672", "UNII:D6OMY2L0WA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758294", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20251212", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:febeee9b-31a8-5b42-9767-c0b5bcf3d911", "medic_reliability": "LOW", "name": "lerodalcibep", "provided_by": ["infores:medic"], "synonym": ["lerodalcibep-liga"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758295", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20200605", "medic_mention_id": "MEDICNE:fd960762-487d-588b-bba1-8f6769536a62", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006244"], "medic_reliability": "MEDIUM", "name": "levilimab", "provided_by": ["infores:medic"], "synonym": ["Levilimab", "Левилимаб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758316", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210214", "medic_mention_id": "MEDICNE:628c051d-8e96-5b90-8d15-fda55b0ce835", "medic_reliability": "HIGH", "name": "tozinameran", "provided_by": ["infores:medic"], "synonym": ["TOZINAMERAN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758324", "medic_application_numbers": ["218614"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20241219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:45689c7f-a412-5210-a21c-ca8363b9899f", "medic_reliability": "HIGH", "name": "olezarsen", "provided_by": ["infores:medic"], "synonym": ["OLEZARSEN SODIUM", "Olezarsen", "olezarsen"], "xref": ["UNII:S3RS2SA30L"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758351", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20251216", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:194b07ce-e91f-5a43-be4d-ab3f92d2418c", "medic_reliability": "HIGH", "name": "depemokimab", "provided_by": ["infores:medic"], "synonym": ["depemokimab", "depemokimab-ulaa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758372", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20230802", "medic_mention_id": "MEDICNE:ddaf5aa6-67e3-5aad-b157-977b6d59aad2", "medic_reliability": "HIGH", "name": "elasomeran", "provided_by": ["infores:medic"], "synonym": ["ELASOMERAN"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:758385", "medic_stub": true, "name": "rusfertide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758390", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240613", "medic_mention_id": "MEDICNE:2925d7ce-b19b-51da-abcf-64cd2e9956c2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005734)-(РГ-RU)"], "medic_reliability": "LOW", "name": "goflikicept", "provided_by": ["infores:medic"], "synonym": ["Goflikcept", "Гофликицепт"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758406", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20060119", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:ccf39505-d806-510a-af8f-be3eebd986b8", "medic_reliability": "HIGH", "name": "yttrium", "provided_by": ["infores:medic"], "synonym": ["yttrium [90Y] chloride"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758410", "medic_application_numbers": ["218944"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20241115", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3bbcbe76-5584-52d6-81a5-838db02eb712", "medic_reliability": "HIGH", "name": "revumenib", "provided_by": ["infores:medic"], "synonym": ["REVUMENIB CITRATE", "Revumenib"], "xref": ["DRUGBANK:DB18515"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758413", "medic_mention_id": "MEDICNE:32bcc6ac-4bf4-5b2e-8a4d-c0f03e4561a4", "medic_reliability": "EXCLUDED", "name": "taletrectinib", "provided_by": ["infores:medic"], "synonym": ["Taletrectinib"], "xref": ["DRUGBANK:DB18711"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758431", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20260212", "medic_mention_id": "MEDICNE:d0c6cb05-51b9-54d5-ba41-d59f66607d52", "medic_reliability": "HIGH", "name": "aumolertinib", "provided_by": ["infores:medic"], "synonym": ["Aumolertinib"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758454", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20240326", "medic_mention_id": "MEDICNE:6360b974-9758-538e-8ef3-9cb902e4b2a4", "medic_reliability": "LOW", "name": "belumosudil mesylate", "provided_by": ["infores:medic"], "synonym": ["BELUMOSUDIL MESILATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758479", "medic_application_numbers": ["219469"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20251024", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:194630de-a8e4-5048-b369-ab435889e23a", "medic_reliability": "HIGH", "name": "elinzanetant", "provided_by": ["infores:medic"], "synonym": ["ELINZANETANT", "elinzanetant"], "xref": ["UNII:NZW2BOW35N"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758535", "medic_application_numbers": ["205109"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20131127", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f8769323-20fa-5ce0-ab8e-ad6610264214", "medic_reliability": "HIGH", "name": "ferric oxyhydroxide", "provided_by": ["infores:medic"], "synonym": ["FERRIC OXYHYDROXIDE", "SUCROFERRIC OXYHYDROXIDE"], "xref": ["UNII:87PZU03K0K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758561", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240801", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:07862a36-a0bd-54ed-a58e-b3157f3fbc00", "medic_reliability": "HIGH", "name": "afamitresgene autoleucel", "provided_by": ["infores:medic"], "synonym": ["Afamitresgene autoleucel", "afamitresgene autoleucel"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758569", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240318", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bf91f926-122d-555f-b07a-d4343dcbb43c", "medic_reliability": "HIGH", "name": "atidarsagene autotemcel", "provided_by": ["infores:medic"], "synonym": ["Atidarsagene autotemcel", "atidarsagene autotemcel"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758570", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20220228", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2ff06897-95bb-51dc-9540-f101e07457e0", "medic_reliability": "HIGH", "name": "ciltacabtagene autoleucel", "provided_by": ["infores:medic"], "synonym": ["Ciltacabtagene autoleucel", "ciltacabtagene autoleucel"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758624", "medic_application_numbers": ["220305"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20251113", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:10329dc3-6577-55b9-b88c-f89103b644d5", "medic_reliability": "HIGH", "name": "ziftomenib", "provided_by": ["infores:medic"], "synonym": ["ZIFTOMENIB"], "xref": ["UNII:4MOD1F4ENC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758625", "medic_application_numbers": ["212642|212643|214032|215841|219592"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20201201", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2fa69ab1-8e60-5807-9dbc-d84787e91713", "medic_reliability": "HIGH", "name": "gallium ga 68 gozetotide", "provided_by": ["infores:medic"], "synonym": ["GALLIUM GA-68 GOZETOTIDE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758635", "medic_application_numbers": ["214962"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20211223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9cdcda0f-84fd-5a1f-bc8f-802be6030858", "medic_reliability": "HIGH", "name": "fingolimod lauryl sulfate", "provided_by": ["infores:medic"], "synonym": ["FINGOLIMOD LAURYL SULFATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758641", "medic_application_numbers": ["218549"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240726", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b8003c5c-e6f6-585e-83d5-46faf8bcd884", "medic_reliability": "HIGH", "name": "benzgalantamine", "provided_by": ["infores:medic"], "synonym": ["BENZGALANTAMINE GLUCONATE", "Benzgalantamine"], "xref": ["DRUGBANK:DB19353"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758781", "medic_application_numbers": ["219304"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20250214", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f3add6ea-83b9-5cea-8655-48d9e827de25", "medic_reliability": "HIGH", "name": "vimseltinib", "provided_by": ["infores:medic"], "synonym": ["VIMSELTINIB", "Vimseltinib", "vimseltinib"], "xref": ["DRUGBANK:DB17520", "UNII:PX9FTM69BF"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:758825", "medic_application_numbers": ["219301"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20250703", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:945fde61-ae93-5244-b75d-a33f1a907927", "medic_reliability": "HIGH", "name": "sebetralstat", "provided_by": ["infores:medic"], "synonym": ["SEBETRALSTAT", "Sebetralstat", "sebetralstat"], "xref": ["DRUGBANK:DB18305", "UNII:O5ZD2TU2B7"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758851", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20230925", "medic_mention_id": "MEDICNE:1cd5b9f7-71a4-5031-804c-162cfddfc13d", "medic_reliability": "HIGH", "name": "efanesoctocog alfa", "provided_by": ["infores:medic"], "synonym": ["EFANESOCTOCOG ALFA", "efanesoctocog alfa"], "xref": ["UNII:WH7BHQ0RB4"]}
{"category": ["biolink:Drug"], "id": "CHEBI:758866", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20241227", "medic_mention_id": "MEDICNE:1969d40d-6bcf-5b57-a7bc-4b7d0b84020e", "medic_reliability": "HIGH", "name": "tarlatamab", "provided_by": ["infores:medic"], "synonym": ["TARLATAMAB", "Tarlatamab"], "xref": ["DRUGBANK:DB17256"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:759268", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20180508", "medic_mention_id": "MEDICNE:85513979-8e71-552c-bd8e-99b6dd63062c", "medic_reliability": "MEDIUM", "name": "catequentinib hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Anlotinib Hydrochloride Capsules", "盐酸安罗替尼胶囊"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759332", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250305", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f528f9b3-b180-525c-9a6c-e9743bae9fce", "medic_reliability": "HIGH", "name": "revakinagene taroretcel", "provided_by": ["infores:medic"], "synonym": ["Revakinagene taroretcel", "revakinagene taroretcel-lwey"], "xref": ["DRUGBANK:DB05344", "UNII:Q7V7NYG6GM"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759420", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250919", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:623bccd4-c6f4-50de-967b-58cee805a59b", "medic_reliability": "LOW", "name": "berahyaluronidase alfa", "provided_by": ["infores:medic"], "synonym": ["pembrolizumab and berahyaluronidase alfa-pmph"], "xref": ["UNII:9X4R4A4HQQ"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:759493", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20231024", "medic_mention_id": "MEDICNE:27fb0a53-47cb-5e11-8d96-be6999ffa40a", "medic_reliability": "HIGH", "name": "andusomeran", "provided_by": ["infores:medic"], "synonym": ["ANDUSOMERAN"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:75955", "medic_stub": true, "name": "copper(II) oxide", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75958", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_mention_id": "MEDICNE:52dfd570-870b-541d-824e-4101f816de11", "medic_reliability": "HIGH", "name": "solution", "provided_by": ["infores:medic"], "synonym": ["solution"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:759626", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:086c3739-2869-5396-9e6d-7a76af7b855f", "medic_reliability": "EXCLUDED", "name": "vanzacaftor", "provided_by": ["infores:medic"], "synonym": ["Vanzacaftor"], "xref": ["DRUGBANK:DB18373", "UNII:COM1POP492"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759651", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080410", "medic_mention_id": "MEDICNE:8e796ba6-dd74-5908-8930-44bd3393855b", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001828"], "medic_reliability": "MEDIUM", "name": "dioxydine", "provided_by": ["infores:medic"], "synonym": ["Dioxydin", "Dioxydin®", "Диоксидин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759671", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20230324", "medic_mention_id": "MEDICNE:1b162b58-a433-5a34-ac71-e41bed1c3025", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002035)-(РГ-RU)"], "medic_reliability": "LOW", "name": "divozilimab", "provided_by": ["infores:medic"], "synonym": ["Divosilimab", "Дивозилимаб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759688", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20200416", "medic_mention_id": "MEDICNE:ee6a9c6b-d06b-50d7-9612-a67ccd1c98e2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006173"], "medic_reliability": "MEDIUM", "name": "prolgolimab", "provided_by": ["infores:medic"], "synonym": ["Prolgolimab", "Пролголимаб"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759701", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20241227", "medic_mention_id": "MEDICNE:289fd5fd-cabe-55f0-ad3a-0e610d8572e6", "medic_reliability": "HIGH", "name": "sipavibart", "provided_by": ["infores:medic"], "synonym": ["SIPAVIBART", "sipavibart"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759745", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20160706", "medic_mention_id": "MEDICNE:af24bb17-b72f-5c14-b5a0-035e6b24efe5", "medic_reliability": "HIGH", "name": "lutetium chloride lu-177", "provided_by": ["infores:medic"], "synonym": ["lutetium (177Lu) chloride"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759747", "medic_approved_authorities": ["EMA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia"], "medic_earliest_approval_date": "20161212", "medic_mention_id": "MEDICNE:f456bbea-52de-5842-9e77-1f87991e69b2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006142"], "medic_reliability": "HIGH", "name": "follitropin delta", "provided_by": ["infores:medic"], "synonym": ["FOLLITROPIN DELTA", "Follitropin Delta", "follitropin delta"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759751", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20170508", "medic_mention_id": "MEDICNE:eb155e07-e2b0-5808-a6a1-03f4d33d55d0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008352"], "medic_reliability": "HIGH", "name": "dinutuximab beta", "provided_by": ["infores:medic"], "synonym": ["Dinutuximab beta", "dinutuximab beta"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759752", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20180921", "medic_mention_id": "MEDICNE:1659e6f0-ce25-58c2-8614-d63e67ce5c5a", "medic_reliability": "HIGH", "name": "damoctocog alfa pegol", "provided_by": ["infores:medic"], "synonym": ["DAMOCTOCOG ALFA PEGOL", "damoctocog alfa pegol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759754", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20190620", "medic_mention_id": "MEDICNE:24702d1e-aa72-5a4c-9d1b-850b556bc097", "medic_reliability": "HIGH", "name": "turoctocog alfa pegol", "provided_by": ["infores:medic"], "synonym": ["TUROCTOCOG ALFA PEGOL", "turoctocog alfa pegol"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759758", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20151111", "medic_mention_id": "MEDICNE:2057e0a0-b1c6-5721-9eab-f65dadca7230", "medic_reliability": "HIGH", "name": "susoctocog alfa", "provided_by": ["infores:medic"], "synonym": ["SUSOCTOCOG ALFA", "susoctocog alfa"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759759", "medic_approved_authorities": ["EMA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan"], "medic_earliest_approval_date": "20160511", "medic_mention_id": "MEDICNE:87f5ac71-f5a9-5a13-b531-11fe9a10e9cf", "medic_reliability": "HIGH", "name": "albutrepenonacog alfa", "provided_by": ["infores:medic"], "synonym": ["ALBUTREPENONACOG ALFA", "albutrepenonacog alfa"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:759760", "medic_stub": true, "name": "tilmanocept", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759761", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20220715", "medic_mention_id": "MEDICNE:ab7d8f4f-f15e-5ad2-b4c2-6cc648c96f75", "medic_reliability": "HIGH", "name": "eptacog beta (activated)", "provided_by": ["infores:medic"], "synonym": ["eptacog beta (activated)"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759768", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20010716", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:314787e0-1027-5187-b7a8-c3cf236838a5", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011426)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "protein c concentrate (human)", "provided_by": ["infores:medic"], "synonym": ["HUMAN PROTEIN C", "Protein C Concentrate (Human)", "Seprotin", "human protein C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759770", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20201217", "medic_mention_id": "MEDICNE:32e330a8-3e03-51a5-8705-3c760c8a7e95", "medic_reliability": "HIGH", "name": "defatted powder of arachis hypogaea l., semen (peanuts)", "provided_by": ["infores:medic"], "synonym": ["defatted powder of Arachis hypogaea L., semen (peanuts)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759773", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970822", "medic_mention_id": "MEDICNE:843cf594-f960-51c7-b1ed-ddd83331b08d", "medic_reliability": "HIGH", "name": "autologous cultured chondrocytes", "provided_by": ["infores:medic"], "synonym": ["Autologous Cultured Chondrocytes"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759774", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20160526", "medic_mention_id": "MEDICNE:33472a38-8e4d-5184-a6e2-9659ff0ca566", "medic_reliability": "HIGH", "name": "autologous cd34+ enriched cell fraction that contains cd34+ cells transduced with retroviral vector that encodes for the human ada cdna sequence", "provided_by": ["infores:medic"], "synonym": ["autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with retroviral vector that encodes for the human ADA cDNA sequence"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759780", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20150217", "medic_mention_id": "MEDICNE:6f975112-934f-57fa-aa51-8110d4695ddc", "medic_reliability": "HIGH", "name": "ex vivo expanded autologous human corneal epithelial cells containing stem cells", "provided_by": ["infores:medic"], "synonym": ["ex vivo expanded autologous human corneal epithelial cells containing stem cells"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759794", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20170710", "medic_mention_id": "MEDICNE:c605a5f5-3d4a-5385-b2a0-9f03d330d350", "medic_reliability": "HIGH", "name": "spheroids of human autologous matrix-associated chondrocytes", "provided_by": ["infores:medic"], "synonym": ["spheroids of human autologous matrix-associated chondrocytes"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:75984", "medic_application_numbers": ["018830|075442|075882|076030|076278|076421|079164|202821|210683|215599"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19851031", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:73b61c2f-05d4-5ba8-8bdf-362e7db9abf1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005168)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O.O=C(NCC1CCCCN1)c1cc(OCC(F)(F)F)ccc1OCC(F)(F)F", "name": "flecainide", "provided_by": ["infores:medic"], "synonym": ["FLECAINIDE ACETATE", "Flecainide"], "xref": ["CHEMBL.COMPOUND:CHEMBL652", "DRUGBANK:DB01195", "DrugCentral:1176", "GTOPDB:2560", "PHAROS:WH3Z9G1L6VMT", "PUBCHEM.COMPOUND:3356", "UNII:K94FTS1806"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759843", "medic_application_numbers": ["021248|206228|208231|209315|209780|209873|210739|210802|214011|215059|215359|217413"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_earliest_approval_date": "20000925", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2d4fd55f-a5b1-54a9-898e-c75a59475160", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004346"], "medic_reliability": "HIGH", "name": "arsenic trioxide", "provided_by": ["infores:medic"], "synonym": ["ARSENIC TRIOXIDE", "Arsenic trioxide", "arsenic trioxide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2362016", "DRUGBANK:DB01169", "DrugCentral:244", "PUBCHEM.COMPOUND:518605"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75988", "medic_application_numbers": ["020119"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L01CB02"], "medic_earliest_approval_date": "19920714", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:320c819f-f6c7-58c5-ba32-17c59baad62e", "medic_reliability": "HIGH", "medic_smiles": "COc1cc([C@@H]2c3cc4c(cc3[C@@H](O[C@@H]3O[C@@H]5CO[C@@H](c6cccs6)O[C@H]5[C@H](O)[C@H]3O)[C@H]3COC(=O)[C@H]23)OCO4)cc(OC)c1O", "name": "teniposide", "provided_by": ["infores:medic"], "synonym": ["TENIPOSIDE", "Teniposide"], "xref": ["CHEMBL.COMPOUND:CHEMBL452231", "DRUGBANK:DB00444", "DrugCentral:2590", "PHAROS:CRN1Z4N84WYV", "PUBCHEM.COMPOUND:452548", "UNII:957E6438QA"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759881", "medic_application_numbers": ["019368"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19851029", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bbc027af-740a-5a74-a472-3611327367c2", "medic_reliability": "HIGH", "name": "monoctanoin", "provided_by": ["infores:medic"], "synonym": ["MONOCTANOIN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759882", "medic_mention_id": "MEDICNE:bb8ee95e-6934-5a55-8755-72f9726fb4d7", "medic_reliability": "EXCLUDED", "name": "flupentixol", "provided_by": ["infores:medic"], "synonym": ["Flupentixol"], "xref": ["CHEMBL.COMPOUND:CHEMBL54661", "DRUGBANK:DB00875", "DrugCentral:1211", "PHAROS:FLLWS1N9QR2C", "PUBCHEM.COMPOUND:5281881", "UNII:895OJP78MJ"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759884", "medic_application_numbers": ["050039|050425|050505|060462|060463|061716|061739|062196|062248|062251|062264|062288|062289|062307|062318|062325|062340|062351|062354|062356|062366|062373|062413|062414|062420|062427|062440|062443|062444|062452|062458|062471|062477|062480|062493|062496|062501|062507|062523|062530|062531|062533|062534|062588|062612|062635|062814|062932|063106|063149|064048|064054|064056|064093|064163|065024|065121|209233|215236|215237"], "medic_approved_authorities": ["CDSCO", "FDA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b587787d-0693-596c-81f1-179772f4fecf", "medic_reliability": "HIGH", "name": "gentamicin", "provided_by": ["infores:medic"], "synonym": ["GENTAMICIN SULFATE", "GENTAMICIN SULFATE; PREDNISOLONE ACETATE", "Gentamicin Sulphate"], "xref": ["GTOPDB:2427", "PHAROS:DR47YA5R4BCS", "PUBCHEM.COMPOUND:3467", "UNII:T6Z9V48IKG"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759887", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20201221", "medic_mention_id": "MEDICNE:4606997e-9e7f-56e8-974d-e22c78a3488f", "medic_reliability": "MEDIUM", "name": "ceftriaxone sodium", "provided_by": ["infores:medic"], "synonym": ["Ceftriaxone Sodium for Injection", "注射用头孢曲松钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759898", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080723", "medic_mention_id": "MEDICNE:433ab89e-0cb5-59da-a939-154b93a059e1", "medic_registration_numbers": ["MOH_RUSSIA:Р N000273/01"], "medic_reliability": "LOW", "name": "vapreotide acetate", "provided_by": ["infores:medic"], "synonym": ["Salvar (Inhalation Mixture No. 1)", "Сальваром (Сбор для ингаляций №1)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759900", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20221230", "medic_mention_id": "MEDICNE:dc95966e-1243-580a-9472-c498fcfbf7f0", "medic_reliability": "MEDIUM", "name": "sodium glycerophosphate", "provided_by": ["infores:medic"], "synonym": ["Sodium Glycerophosphate 4.32g/20ml solution for infusion", "Sodium Glycerophosphate Injection", "甘油磷酸钠注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759905", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19921106", "medic_mention_id": "MEDICNE:b0c26759-e5bf-5da6-bb34-7d0c833c99fa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001893"], "medic_reliability": "MEDIUM", "name": "tetrachlorodecaoxide", "provided_by": ["infores:medic"], "synonym": ["IMMUNOKIND", "Tetrachlorodecaoxide 1.037mg/100ml Solution"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759909", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20120823", "medic_mention_id": "MEDICNE:b48287e6-47b4-5c1f-9f3a-3b9458b623af", "medic_reliability": "HIGH", "name": "cupric chloride cu-64", "provided_by": ["infores:medic"], "synonym": ["copper (64Cu) chloride"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:759924", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20190920", "medic_mention_id": "MEDICNE:72f8fbea-1180-5840-9177-3cba3ca3d215", "medic_reliability": "HIGH", "name": "lascufloxacin", "provided_by": ["infores:medic"], "synonym": ["LASCUFLOXACIN HYDROCHLORIDE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:75998", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia"], "medic_atc_codes": ["L01EE01"], "medic_earliest_approval_date": "20140630", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:8ebe339d-8a9f-5975-b23f-276b21b1e080", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002945"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Nc1cccc(-n2c(=O)n(C3CC3)c(=O)c3c(Nc4ccc(I)cc4F)n(C)c(=O)c(C)c32)c1", "name": "trametinib", "provided_by": ["infores:medic"], "synonym": ["Trametinib", "Trametinib 0.5mg/2mg", "trametinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103875", "DRUGBANK:DB08911", "DrugCentral:4802", "GTOPDB:6495", "PHAROS:T5HZJQ4ZPZ9W", "PUBCHEM.COMPOUND:11707110", "UNII:33E86K87QN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:759992", "medic_application_numbers": ["219972"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20251119", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ee6452ec-0189-5770-98cb-d63f53950e00", "medic_reliability": "HIGH", "name": "sevabertinib", "provided_by": ["infores:medic"], "synonym": ["SEVABERTINIB"], "xref": ["UNII:2A7VPM5RWH"]}
{"category": ["biolink:Drug"], "id": "CHEBI:759999", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20160128", "medic_mention_id": "MEDICNE:e9168474-718b-5584-9b8e-6bf4d9e48040", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003566"], "medic_reliability": "MEDIUM", "name": "empegfilgrastim", "provided_by": ["infores:medic"], "synonym": ["Empegfilgrastim", "Эмпэгфилграстим"]}
{"category": ["biolink:Drug"], "id": "CHEBI:760001", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20190404", "medic_mention_id": "MEDICNE:14f578b4-be9b-5e01-b2ee-e76c1d785ac7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005439"], "medic_reliability": "MEDIUM", "name": "netakimab", "provided_by": ["infores:medic"], "synonym": ["Netakimab", "Нетакимаб"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:76003", "medic_application_numbers": ["201292"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_earliest_approval_date": "20130712", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:38577337-560f-533e-aeae-68902bf7621d", "medic_reliability": "HIGH", "medic_smiles": "CN(C)C/C=C/C(=O)Nc1cc2c(Nc3ccc(F)c(Cl)c3)ncnc2cc1O[C@H]1CCOC1.O=C(O)/C=C\\C(=O)O.O=C(O)/C=C\\C(=O)O", "name": "afatinib dimaleate", "provided_by": ["infores:medic"], "synonym": ["AFATINIB DIMALEATE", "Afatinib Maleate Tablets"]}
{"category": ["biolink:Drug"], "id": "CHEBI:76004", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_atc_codes": ["L04AX07"], "medic_earliest_approval_date": "20230801", "medic_mention_id": "MEDICNE:52e21835-7dd7-571d-aa14-a7789c00f826", "medic_reliability": "MEDIUM", "medic_smiles": "COC(=O)/C=C/C(=O)OC", "name": "dimethyl fumarate", "provided_by": ["infores:medic"], "synonym": ["Dimethyl Fumarate Enteric-Coated Capsules", "富马酸二甲酯肠溶胶囊"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107333", "DrugCentral:4757", "PHAROS:2NLTKZFDH13N", "PUBCHEM.COMPOUND:637568", "UNII:FO2303MNI2"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:760245", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20260216", "medic_mention_id": "MEDICNE:49dfc3d6-d9b8-5699-aad9-0c355d05a730", "medic_reliability": "HIGH", "name": "nogapendekin alfa inbakicept", "provided_by": ["infores:medic"], "synonym": ["nogapendekin alfa inbakicept"], "xref": ["UNII:7TK323DLA0"]}
{"category": ["biolink:Drug"], "id": "CHEBI:760249", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20230327", "medic_mention_id": "MEDICNE:e3af2dbf-0352-50df-b279-4498a27423a7", "medic_reliability": "HIGH", "name": "pemetrexed disodium hemipentahydrate", "provided_by": ["infores:medic"], "synonym": ["PEMETREXED SODIUM HEMIPENTAHYDRATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:760389", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20250327", "medic_mention_id": "MEDICNE:8ac03779-1dac-5a8a-afd8-f9dfd2fa5def", "medic_reliability": "HIGH", "name": "lazertinib mesylate", "provided_by": ["infores:medic"], "synonym": ["LAZERTINIB MESILATE HYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:760399", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:ea4fd39c-c720-504d-83a3-a3a9f3e0be90", "medic_reliability": "EXCLUDED", "name": "pemivibart", "provided_by": ["infores:medic"], "synonym": ["Pemivibart"], "xref": ["DRUGBANK:DB18720"]}
{"category": ["biolink:Drug"], "id": "CHEBI:760403", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20111003", "medic_mention_id": "MEDICNE:1f440965-0159-52be-ab2f-0d56fbc82a48", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000798"], "medic_reliability": "MEDIUM", "name": "streptococcus pneumoniae polysaccharide conjugated to corynebacterium diphtheriae crm197", "provided_by": ["infores:medic"], "synonym": ["Prevenar 13 (pneumococcal polysaccharide conjugate adsorbed vaccine, 13-valent)", "Превенар 13 (вакцина пневмококковая полисахаридная конъюгированная адсорбированная, тринадцативалентная)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:760410", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230426", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:67e5cf09-d4f4-57c4-802c-9250136d4b3d", "medic_reliability": "LOW", "name": "fecal microbiota spores, live", "provided_by": ["infores:medic"], "synonym": ["fecal microbiota spores, live-brpk"], "xref": ["UNII:9K7X6R5BMW"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:760465", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080922", "medic_mention_id": "MEDICNE:f94864f4-3b8a-500b-bd15-147f62aef1e6", "medic_registration_numbers": ["MOH_RUSSIA:Р N002948/01"], "medic_reliability": "LOW", "name": "emoxypine succinate", "provided_by": ["infores:medic"], "synonym": ["Mexicor®", "Мексикор®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:760470", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090129", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:57a11565-f1ac-5c50-95e9-3a6fd273d3f2", "medic_registration_numbers": ["MOH_RUSSIA:Р N003265/01"], "medic_reliability": "LOW", "name": "ferrous sulfate sesquihydrate", "provided_by": ["infores:medic"], "synonym": ["Ferrohematogen®", "Феррогематоген®"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:760498", "medic_application_numbers": ["020484"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000714", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:5277f7e7-f64d-58d1-9e14-ed1f0d738ec0", "medic_reliability": "HIGH", "name": "tinzaparin", "provided_by": ["infores:medic"], "synonym": ["TINZAPARIN SODIUM", "Tinzaparin"], "xref": ["DRUGBANK:DB06822"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:760520", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130429", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d17436c6-4db6-5016-8729-d4ecda2aeff1", "medic_reliability": "MEDIUM", "name": "prothrombin complex concentrate", "provided_by": ["infores:medic"], "synonym": ["Prothrombin Complex Concentrate (Human)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:76128", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["M01AE17", "M02AA27"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:2f3e670f-8a4a-52a8-a2ee-c308660d2b34", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002805"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](C(=O)O)c1cccc(C(=O)c2ccccc2)c1", "name": "dexketoprofen", "provided_by": ["infores:medic"], "synonym": ["Dexketoprofen", "Dexketoprofen (as Trometamol ) tablets 12.5mg/25mg", "Dexketoprofen 12.5 mg/25 mg + Paracetamol 500 mg film coated tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL75435", "DRUGBANK:DB09214", "DrugCentral:833", "PHAROS:S32X7K97TM3T", "PUBCHEM.COMPOUND:667550", "UNII:6KD9E78X68"]}
{"category": ["biolink:Drug"], "id": "CHEBI:76198", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20030805", "medic_mention_id": "MEDICNE:e1fdd383-7956-563a-ab74-7a350dbcdad6", "medic_reliability": "MEDIUM", "medic_smiles": "CC(C(=O)[O-])c1ccc(CC2CCCC2=O)cc1.[Na+]", "name": "loxoprofen sodium", "provided_by": ["infores:medic"], "synonym": ["Loxoprofen Sodium Granules", "Loxoprofen Sodium Tablets", "Loxoprofen Sodium tablet (60mg)", "洛索洛芬钠片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:76230", "medic_application_numbers": ["018006|070400|070401|071007|071008|071081|071362|071363|071380|071381|071469|071640|071641|071684|071710|072077|072078|072262|072263|072809|072848"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6f982cbb-eb91-5a65-9cc7-914ea6a5efd7", "medic_reliability": "HIGH", "name": "meclofenamic acid(1-)", "provided_by": ["infores:medic"], "synonym": ["MECLOFENAMATE SODIUM", "Meclofenamate"], "xref": ["DRUGBANK:DB00939"]}
{"category": ["biolink:Drug"], "id": "CHEBI:76258", "medic_application_numbers": ["012542|088399"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:f7c84035-6709-5b8c-823f-60c342d4af25", "medic_reliability": "HIGH", "medic_smiles": "CCCCC1C(=O)N(c2ccccc2)N(c2ccc(O)cc2)C1=O", "name": "oxyphenbutazone", "provided_by": ["infores:medic"], "synonym": ["OXYPHENBUTAZONE", "Oxyphenbutazone 0.1gm Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1228", "DrugCentral:2036", "PHAROS:1DWFZAZT8U1H", "PUBCHEM.COMPOUND:4641", "UNII:A7D84513GV"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:77181", "medic_stub": true, "name": "crystal violet cation", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:77572", "medic_mention_id": "MEDICNE:80d07dbd-1217-54ee-a5cd-a1c4a50d181e", "medic_reliability": "EXCLUDED", "name": "tranilast", "provided_by": ["infores:medic"], "synonym": ["Tranilast"], "xref": ["CHEMBL.COMPOUND:CHEMBL415324", "DRUGBANK:DB07615", "PHAROS:55MN3LU3PTY1", "PUBCHEM.COMPOUND:5282230"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:77590", "medic_application_numbers": ["021875|200043|200156|200751|201514|202768|206069"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N06BA13"], "medic_earliest_approval_date": "20070615", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:52fcfc24-b859-5cac-ade7-f351890b1c11", "medic_reliability": "HIGH", "medic_smiles": "NC(=O)C[S@@+]([O-])C(c1ccccc1)c1ccccc1", "name": "armodafinil", "provided_by": ["infores:medic"], "synonym": ["ARMODAFINIL", "Armodafinil"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201192", "DRUGBANK:DB06413", "DrugCentral:4501", "PHAROS:YGT27K9BRV74", "PUBCHEM.COMPOUND:9690109", "UNII:V63XWA605I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:77596", "medic_application_numbers": ["020559"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960808", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8a1d665a-f791-52c7-b63e-b6d0df2d9d18", "medic_reliability": "HIGH", "name": "Ranitidine bismuth citrate", "provided_by": ["infores:medic"], "synonym": ["RANITIDINE BISMUTH CITRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:77605", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20170302", "medic_mention_id": "MEDICNE:98210e76-d330-54f2-966d-2fdc3609173b", "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(S(=O)(=O)O)cc1.NC1CCN(c2nc3c(cc2F)c(=O)c(C(=O)O)cn3-c2ccc(F)cc2F)C1", "name": "tosufloxacin tosylate", "provided_by": ["infores:medic"], "synonym": ["TOSUFLOXACIN TOSILATE HYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:77614", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20000329", "medic_mention_id": "MEDICNE:b228dd39-00b0-5d2f-b2b0-6871047671a9", "medic_reliability": "MEDIUM", "name": "terbinafine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Terbinafine Hydrochloride Tablets", "盐酸特比萘芬片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:77635", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080911", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:f9858e92-f882-5154-b2d1-369e6ca7f4ec", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-009050/08"], "medic_reliability": "MEDIUM", "name": "calcium phosphate", "provided_by": ["infores:medic"], "synonym": ["Calcium phosphate", "Кальция фосфат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:77655", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20080129", "medic_mention_id": "MEDICNE:a5320d96-2dc6-533e-b49a-7ba8f7bbd4e3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001805"], "medic_reliability": "HIGH", "medic_smiles": "CCC[C@H](N[C@@H](C)C(=O)N1[C@H](C(=O)O)C[C@@H]2CCCC[C@@H]21)C(=O)OCC.N=C(N)NCCC[C@H](N)C(=O)O", "name": "perindopril arginine", "provided_by": ["infores:medic"], "synonym": ["Perindopril Arginine + Amlodipine", "Perindopril Arginine + Indapamide", "Perindopril arginine", "Perindopril arginine 2.5mg/5mg/10mg film coated tablet", "Периндоприла аргинин"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7799", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20010906", "medic_mention_id": "MEDICNE:a676b5f2-d4fe-5039-a91a-b465aa13514a", "medic_reliability": "MEDIUM", "name": "oseltamivir phosphate", "provided_by": ["infores:medic"], "synonym": ["Oseltamivir Phosphate Capsules", "Oseltamivir Phosphate Granules", "磷酸奥司他韦胶囊"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7819", "medic_application_numbers": ["018069"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["P02BA02"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:bcb65d87-5ada-50e1-ac68-76b2da8ef95f", "medic_reliability": "HIGH", "medic_smiles": "CC(C)NCC1CCc2cc(CO)c([N+](=O)[O-])cc2N1", "name": "oxamniquine", "provided_by": ["infores:medic"], "synonym": ["OXAMNIQUINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7820", "medic_application_numbers": ["076761|076897|077249|077827|078033"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A14AA08"], "medic_earliest_approval_date": "20061201", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:45de9946-586b-5401-99c0-7e66e2bfae2f", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12COC(=O)C[C@@H]1CC[C@@H]1[C@@H]2CC[C@@]2(C)[C@H]1CC[C@]2(C)O", "name": "oxandrolone", "provided_by": ["infores:medic"], "synonym": ["OXANDROLONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200436", "DrugCentral:2011", "PHAROS:H7LL2S9VWALU", "PUBCHEM.COMPOUND:5878", "UNII:7H6TM3CT4L"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7822", "medic_application_numbers": ["018841|075842|075843|075844|075845|075846|075847|075848|075849|075850|075851|075855|075987|208633|217927"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["M01AE12"], "medic_earliest_approval_date": "19921029", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:79f45ff0-1c6f-5376-acd6-da475b11a0fa", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CCc1nc(-c2ccccc2)c(-c2ccccc2)o1", "name": "oxaprozin", "provided_by": ["infores:medic"], "synonym": ["OXAPROZIN", "OXAPROZIN POTASSIUM", "Oxaprozin", "Oxaprozine Tablet (600mg)"], "xref": ["CHEMBL.COMPOUND:CHEMBL1071", "DRUGBANK:DB00991", "DrugCentral:2013", "GTOPDB:7252", "PHAROS:GVRKKRTS74UJ", "PUBCHEM.COMPOUND:4614", "UNII:MHJ80W9LRB"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7823", "medic_application_numbers": ["015539|070640|070641|070650|070683|070943|070944|070945|071026|071494|071508|071713|071714|071715|071756|071955|071956|071957|072253|072952|072953|072954|218261"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["N05BA04"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e1e68103-5e2d-5f7b-87b5-8307dd85c28c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010208)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "O=C1Nc2ccc(Cl)cc2C(c2ccccc2)=NC1O", "name": "oxazepam", "provided_by": ["infores:medic"], "synonym": ["OXAZEPAM", "Oxazepam", "Oxazepam 10mg Tablet", "Oxazepam 30mg Tablet", "Oxazepam Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL568", "DRUGBANK:DB00842", "DrugCentral:2015", "PHAROS:1P5MYDRJZHJV", "PUBCHEM.COMPOUND:4616", "UNII:6GOW6DWN2A"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7824", "medic_application_numbers": ["021014|021285|077747|077794|077795|077801|077802|078005|078069|078734|090239|201193|202810|202961|207300|207717|209652|211420|211747|212428|213183|213369|215332|215726|215796|215939|216749|217659|217782|218278|219241|219556|220281"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_atc_codes": ["N03AF02"], "medic_earliest_approval_date": "19971205", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2b32c45f-9638-5e5c-8206-291f6a4a7d64", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005576"], "medic_reliability": "HIGH", "medic_smiles": "NC(=O)N1c2ccccc2CC(=O)c2ccccc21", "name": "oxcarbazepine", "provided_by": ["infores:medic"], "synonym": ["OXCARBAZEPINE", "Oxcarbazepine", "Oxcarbazepine Tablets", "Oxcarbazepine Tablets (Additional Indication)150/300/600 mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1068", "DRUGBANK:DB00776", "DrugCentral:2017", "PHAROS:VZRCU7JKKM9N", "PUBCHEM.COMPOUND:34312", "UNII:VZI5B1W380"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7825", "medic_application_numbers": ["019828|020209|205076"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19881230", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cba555b3-366a-52fa-b7f7-08fc406eff9e", "medic_registration_numbers": ["MOH_RUSSIA:П N016153/01"], "medic_reliability": "HIGH", "medic_smiles": "Clc1ccc(CO/N=C(\\Cn2ccnc2)c2ccc(Cl)cc2Cl)c(Cl)c1.O=[N+]([O-])O", "name": "oxiconazole", "provided_by": ["infores:medic"], "synonym": ["OXICONAZOLE NITRATE", "Oxiconazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1262", "DRUGBANK:DB00239", "PHAROS:W6DT9YA766FB", "PUBCHEM.COMPOUND:5353853", "UNII:C668Q9I33J"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7826", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20000117", "medic_mention_id": "MEDICNE:a4816ac5-8431-5ee4-ac44-62285521695b", "medic_reliability": "MEDIUM", "name": "oxiconazole nitrate", "provided_by": ["infores:medic"], "synonym": ["Oxiconazole Nitrate 1% w/v Cream & Lotion"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:78300", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:40ffd8af-0411-570c-b607-81c7240dce4a", "medic_reliability": "HIGH", "name": "[8)-alpha-Neu5Ac-(2->]8", "provided_by": ["infores:medic"], "synonym": ["8"]}
{"category": ["biolink:Drug"], "id": "CHEBI:78425", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A10BJ04"], "medic_earliest_approval_date": "20140415", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:da4f0db9-f5c4-5920-908f-c56ae2047b5f", "medic_reliability": "HIGH", "name": "albiglutide", "provided_by": ["infores:medic"], "synonym": ["albiglutide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107841", "DrugCentral:4927", "PHAROS:KHH8U4WB8L95"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7852", "medic_application_numbers": ["208090"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:23ddd928-f187-5d69-bebe-ce8987ece626", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc2c3c1O[C@H]1C(=O)CC[C@@]4(O)[C@@H](C2)N(C)CC[C@]314.Cl", "name": "oxycodone", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; OXYCODONE HYDROCHLORIDE", "ACETAMINOPHEN; OXYCODONE HYDROCHLORIDE; OXYCODONE TEREPHTHALATE", "ASPIRIN; OXYCODONE HYDROCHLORIDE", "ASPIRIN; OXYCODONE HYDROCHLORIDE; OXYCODONE TEREPHTHALATE", "IBUPROFEN; OXYCODONE HYDROCHLORIDE", "OXYCODONE", "OXYCODONE HYDROCHLORIDE", "OXYCODONE HYDROCHLORIDE HYDRATE", "Oxycodone"], "xref": ["CHEMBL.COMPOUND:CHEMBL656", "DRUGBANK:DB00497", "DrugCentral:2029", "PHAROS:NQ3YFX59WXLQ", "PUBCHEM.COMPOUND:5284603", "UNII:CD35PMG570"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:78538", "medic_application_numbers": ["212161"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["N07XX08"], "medic_earliest_approval_date": "20111116", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b1dad7ac-7462-5b79-8db9-a3335de56aab", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004181"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1ccc2nc(-c3cc(Cl)cc(Cl)c3)oc2c1", "name": "tafamidis", "provided_by": ["infores:medic"], "synonym": ["TAFAMIDIS", "Tafamidis", "Tafamidis Bulk Drug", "tafamidis"], "xref": ["DRUGBANK:DB11644"]}
{"category": ["biolink:Drug"], "id": "CHEBI:78539", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["C09AA15"], "medic_earliest_approval_date": "20080808", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:dcbf2ea5-853a-559c-a718-fd1a8fff0471", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006747)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "C[C@H](CSC(=O)c1ccccc1)C(=O)N1C[C@@H](Sc2ccccc2)C[C@H]1C(=O)O", "name": "zofenopril", "provided_by": ["infores:medic"], "synonym": ["Zofenopril", "Зофеноприл"], "xref": ["CHEMBL.COMPOUND:CHEMBL331378", "DrugCentral:2866", "PHAROS:24F96H7T4BMH", "PUBCHEM.COMPOUND:92400", "UNII:290ZY759PI"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:78540", "medic_application_numbers": ["205437|210745|211674|211716|211734|211756|211761|211774|211782|211788|211819|211834|211878|211887|211897"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L04AA32"], "medic_earliest_approval_date": "20140321", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:93c0e792-f15b-559b-b70b-9722dbf81f0b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003829"], "medic_reliability": "HIGH", "medic_smiles": "CCOc1cc([C@@H](CS(C)(=O)=O)N2C(=O)c3cccc(NC(C)=O)c3C2=O)ccc1OC", "name": "apremilast", "provided_by": ["infores:medic"], "synonym": ["APREMILAST", "Apremilast", "apremilast"], "xref": ["CHEMBL.COMPOUND:CHEMBL514800", "DRUGBANK:DB05676", "DrugCentral:4829", "GTOPDB:7372", "PHAROS:GTQW8KGMM25B", "PUBCHEM.COMPOUND:11561674", "UNII:UP7QBP99PN"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:78543", "medic_application_numbers": ["203469|215893"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01EA05"], "medic_earliest_approval_date": "20121214", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2a295a96-f528-5e42-94ce-fd9028630c67", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007819"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(C(=O)Nc2ccc(CN3CCN(C)CC3)c(C(F)(F)F)c2)cc1C#Cc1cnc2cccnn12", "name": "ponatinib", "provided_by": ["infores:medic"], "synonym": ["PONATINIB HYDROCHLORIDE", "Ponatinib", "ponatinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL4519289", "DRUGBANK:DB08901", "PHAROS:NW19QGP4826U", "PUBCHEM.COMPOUND:155541742", "UNII:4340891KFS"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7863", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:035c9cf9-3657-50f9-98a2-ecbb221dbe02", "medic_reliability": "MEDIUM", "name": "oxymetazoline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Oxymetazoline Hydrochloride 0.25% (Paediatric)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7864", "medic_application_numbers": ["016848"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:23190ab0-494d-579c-9444-89f2207e68d7", "medic_reliability": "HIGH", "name": "oxymetholone", "provided_by": ["infores:medic"], "synonym": ["OXYMETHOLONE", "Oxymetholone", "Oxymetholone 5mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200585", "DRUGBANK:DB06412", "DrugCentral:2033", "PHAROS:LFAKFU7NXZMS", "PUBCHEM.COMPOUND:5281034", "UNII:L76T0ZCA8K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7865", "medic_application_numbers": ["011707|011738|021610|021611|079046|079087|090964|091443|200792|200822|201187|201655|202321|202946|203506|203601|204459|210175"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4f25d434-b693-5cda-8921-9f728c181ea0", "medic_reliability": "HIGH", "name": "Oxymorphone", "provided_by": ["infores:medic"], "synonym": ["OXYMORPHONE HYDROCHLORIDE", "Oxymorphone"], "xref": ["CHEMBL.COMPOUND:CHEMBL963", "DRUGBANK:DB01192", "DrugCentral:2034", "PHAROS:WVFU6YYB7SXN", "PUBCHEM.COMPOUND:5284604", "UNII:9VXA968E0C"]}
{"category": ["biolink:Drug"], "id": "CHEBI:78665", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19730410", "medic_features": ["NO_THERAPEUTIC_VALUE", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:2f1b63d4-14a6-5290-a864-c77b1308747d", "medic_registration_numbers": ["MOH_RUSSIA:73/272/2"], "medic_reliability": "MEDIUM", "name": "royal jelly", "provided_by": ["infores:medic"], "synonym": ["Royal Jelly", "Маточное молочко"]}
{"category": ["biolink:Drug"], "id": "CHEBI:78671", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090521", "medic_mention_id": "MEDICNE:f47e8285-65df-5933-8320-2a0771b96674", "medic_registration_numbers": ["MOH_RUSSIA:Р N003219/01"], "medic_reliability": "MEDIUM", "name": "sodium chromate", "provided_by": ["infores:medic"], "synonym": ["Sodium chromate [51Cr]", "Натрия хромат [51Cr]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7868", "medic_application_numbers": ["011612"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8f1ac9c1-6d6b-5f70-b058-3d80bd4ea621", "medic_reliability": "HIGH", "name": "Oxyphencyclimine", "provided_by": ["infores:medic"], "synonym": ["OXYPHENCYCLIMINE HYDROCHLORIDE", "Oxyphencyclamine Hcl. 10mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1495", "DrugCentral:2026", "PHAROS:BL1C9KDNW95J", "PUBCHEM.COMPOUND:4642", "UNII:4V44H1O8XI"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:78870", "medic_application_numbers": ["201444"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V03AB08"], "medic_earliest_approval_date": "20110114", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5fb8fcce-c52a-56ef-bf93-4a71c750bc96", "medic_reliability": "HIGH", "medic_smiles": "O=N[O-].[Na+]", "name": "sodium nitrite", "provided_by": ["infores:medic"], "synonym": ["SODIUM NITRITE", "SODIUM NITRITE; SODIUM THIOSULFATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:78897", "medic_application_numbers": ["021670|022278"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20041216", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:2945e740-07c7-5eaf-9641-22ce4e6fef2f", "medic_reliability": "HIGH", "name": "trypan blue", "provided_by": ["infores:medic"], "synonym": ["TRYPAN BLUE"], "xref": ["UNII:768N7QO4KH"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7903", "medic_application_numbers": ["020036|021113|075290|075594|075773|075841|076153|076207|077433|077703|078156|078300|078373|078520|078942"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19911031", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0df77243-a986-57e5-b6c2-729e470850af", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-002437"], "medic_reliability": "HIGH", "medic_smiles": "NCCC(O)(P(=O)([O-])O)P(=O)([O-])O.O.O.O.O.O.[Na+].[Na+]", "name": "pamidronate", "provided_by": ["infores:medic"], "synonym": ["PAMIDRONATE DISODIUM", "PAMIDRONATE DISODIUM HYDRATE", "Pamidronic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL834", "DRUGBANK:DB00282", "DrugCentral:2048", "GTOPDB:7259", "PHAROS:D1HWYVKBHCUV", "PUBCHEM.COMPOUND:4674", "UNII:OYY3447OMC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:79033", "medic_application_numbers": ["204677"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["V09AX06"], "medic_earliest_approval_date": "20140319", "medic_features": ["RADIOISOTOPE_OR_DIAGNOSTIC_AGENT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ab58a02f-9004-502d-aadd-53429b50a1b3", "medic_reliability": "HIGH", "medic_smiles": "CNc1ccc(/C=C/c2ccc(OCCOCCOCC[18F])cc2)cc1", "name": "florbetaben ((18)F)", "provided_by": ["infores:medic"], "synonym": ["FLORBETABEN F-18"], "xref": ["CHEMBL.COMPOUND:CHEMBL566752", "PHAROS:Q7ARQ4XPDHLQ", "PUBCHEM.COMPOUND:11501341", "UNII:TLA7312TOI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7904", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19950221", "medic_mention_id": "MEDICNE:17c4aed9-cbda-5520-9822-12e682555ee1", "medic_reliability": "MEDIUM", "name": "Pamidronate disodium", "provided_by": ["infores:medic"], "synonym": ["Disodium Pamidronate Injection", "帕米膦酸二钠注射液"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:79042", "medic_application_numbers": ["205677|211601|211607|211654|214517"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["N05CH03"], "medic_earliest_approval_date": "20140131", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3f7236b4-2d64-5a11-bee7-fd7cdf703bb6", "medic_reliability": "HIGH", "medic_smiles": "CCC(=O)NC[C@@H]1C[C@H]1c1cccc2c1CCO2", "name": "tasimelteon", "provided_by": ["infores:medic"], "synonym": ["TASIMELTEON", "Tasimelteon", "tasimelteon"], "xref": ["CHEMBL.COMPOUND:CHEMBL2103822", "DRUGBANK:DB09071", "DrugCentral:4820", "GTOPDB:7393", "PHAROS:YCFN6NCZU12S", "PUBCHEM.COMPOUND:10220503", "UNII:SHS4PU80D9"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7953", "medic_application_numbers": ["016832|017703|075030|075286|075287|075328|075555|075595|075678|075726"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N06BA05"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fa7fa936-4fb0-5dfe-8bcb-e685ed32650c", "medic_reliability": "HIGH", "medic_smiles": "NC1=NC(=O)C(c2ccccc2)O1", "name": "pemoline", "provided_by": ["infores:medic"], "synonym": ["PEMOLINE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1177", "PHAROS:PQ163RNH3XGB", "PUBCHEM.COMPOUND:4723"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:7967", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231219", "medic_mention_id": "MEDICNE:41f07aec-9554-5892-9db7-c0028d0f3b2b", "medic_reliability": "MEDIUM", "name": "phenoxymethylpenicillin potassium", "provided_by": ["infores:medic"], "synonym": ["Penicillin V Potassium Tablets", "青霉素V钾片"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:7977", "medic_application_numbers": ["019264|019887|073447|073479|073617|074303|206666|206667|206982|206983|213806"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19841016", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b02975ab-a3f8-58b2-a2d0-12c76f3b3614", "medic_reliability": "HIGH", "name": "pentamidine isethionate", "provided_by": ["infores:medic"], "synonym": ["PENTAMIDINE ISETHIONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:7982", "medic_application_numbers": ["016194"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N02AD01"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ad3edcd1-409f-572d-bce6-1c2ba63109c8", "medic_reliability": "HIGH", "medic_smiles": "CC(C)=CCN1CCC2(C)c3cc(O)ccc3CC1C2C", "name": "pentazocine", "provided_by": ["infores:medic"], "synonym": ["ACETAMINOPHEN; PENTAZOCINE HYDROCHLORIDE", "ASPIRIN; PENTAZOCINE HYDROCHLORIDE", "PENTAZOCINE HYDROCHLORIDE", "PENTAZOCINE LACTATE", "Pentazocine"], "xref": ["CHEMBL.COMPOUND:CHEMBL560", "DRUGBANK:DB00652", "GTOPDB:1606", "PHAROS:GPDDXLSTX81Q", "PUBCHEM.COMPOUND:441278", "UNII:RP4A60D26L"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:81496", "medic_application_numbers": ["012967|087768"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8a0d1444-48dc-5763-b06e-2355469cdc07", "medic_reliability": "HIGH", "name": "Iopodic acid", "provided_by": ["infores:medic"], "synonym": ["IPODATE CALCIUM", "IPODATE SODIUM"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:81568", "medic_stub": true, "name": "Luteinizing hormone", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "CHEBI:81570", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["G03GA08"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:5bca021e-c98c-5df6-884c-308b4ba940fb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006995"], "medic_reliability": "MEDIUM", "name": "Chorionic gonadotropin", "provided_by": ["infores:medic"], "synonym": ["Chorionic gonadotropin", "Гонадотропин хорионический"]}
{"category": ["biolink:Drug"], "id": "CHEBI:81579", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["B03XA02"], "medic_mention_id": "MEDICNE:ce29ffc0-f8ae-5e1f-a657-e263cfe45f99", "medic_reliability": "MEDIUM", "name": "Erythropoietin", "provided_by": ["infores:medic"], "synonym": ["Erythropoietin (r Hu Epo)"], "xref": ["UNII:64FS3BFH5W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:81722", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20080324", "medic_mention_id": "MEDICNE:09823a74-f7b4-5fbe-8692-966bc8090329", "medic_reliability": "MEDIUM", "name": "Sulfadimethoxine sodium", "provided_by": ["infores:medic"], "synonym": ["Sulfadimethoxine Sodium Injection", "磺达肝癸钠注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:81727", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:cbf90e65-f315-53a5-b342-1a8f7365ffd6", "medic_reliability": "MEDIUM", "medic_smiles": "O=[N+]([O-])c1cc(I)c(O)c(I)c1", "name": "Disophenol", "provided_by": ["infores:medic"], "synonym": ["Disophenol Injection (Each c.c contains; disophenol - 45mg) (Veterinary use)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:81783", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070801", "medic_mention_id": "MEDICNE:ae19670a-0450-5397-b264-3db2687c5da8", "medic_registration_numbers": ["MOH_RUSSIA:Р N001667/01"], "medic_reliability": "LOW", "name": "tricyclazole", "provided_by": ["infores:medic"], "synonym": ["Tizol®", "Тизоль®"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82060", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:a47a410f-f150-5805-952a-07c429904382", "medic_reliability": "MEDIUM", "medic_smiles": "CCOC(=O)NC(=S)Nc1ccccc1NC(=S)NC(=O)OCC", "name": "thiophanate", "provided_by": ["infores:medic"], "synonym": ["Thiophanate (For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8207", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060310", "medic_mention_id": "MEDICNE:163fa624-d606-56e0-b7e8-3f5866743402", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001797)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@@H]1C(=O)OC[C@@H]1Cc1cncn1C.Cl", "name": "(+)-pilocarpine", "provided_by": ["infores:medic"], "synonym": ["Pilocarpine", "Pilocarpine + Timolol"], "xref": ["CHEMBL.COMPOUND:CHEMBL550", "DRUGBANK:DB01085", "DrugCentral:2166", "GTOPDB:305", "PHAROS:HAM15654L47L", "PUBCHEM.COMPOUND:5910", "UNII:01MI4Q9DI3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8212", "medic_application_numbers": ["017473|204521"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["N05AG02"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4a7b760b-e3f3-59d9-a93f-873366e1d2bd", "medic_reliability": "HIGH", "medic_smiles": "O=c1[nH]c2ccccc2n1C1CCN(CCCC(c2ccc(F)cc2)c2ccc(F)cc2)CC1", "name": "pimozide", "provided_by": ["infores:medic"], "synonym": ["PIMOZIDE", "Pimozide", "Pimozide 1mg/4mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1423", "DRUGBANK:DB01100", "DrugCentral:2172", "GTOPDB:90", "PHAROS:QC4NBYGR69YF", "PUBCHEM.COMPOUND:16362", "UNII:1HIZ4DL86F"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8214", "medic_application_numbers": ["018285|073609|073661|073687|074013|074018|074019|074063|074123|074125|074437|074474|205415|209866|211712"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["C07AA03"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b6ec1f7d-06f1-5f05-a80e-e952f32d920b", "medic_reliability": "HIGH", "medic_smiles": "CC(C)NCC(O)COc1cccc2[nH]ccc12", "name": "pindolol", "provided_by": ["infores:medic"], "synonym": ["PINDOLOL", "Pindolol", "Pindolol 5mg Tablet", "Pindolol Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL500", "DRUGBANK:DB00960", "DrugCentral:2176", "GTOPDB:91", "PHAROS:RM344THTUMNV", "PUBCHEM.COMPOUND:4828", "UNII:BJ4HF6IU1D"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82248", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20120116", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:3ae2a61d-31ab-55c2-9de6-8db1e43f25f0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003417"], "medic_reliability": "MEDIUM", "name": "Proxan", "provided_by": ["infores:medic"], "synonym": ["Proxan", "Пророксан"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8228", "medic_application_numbers": ["021073|076798|076801|077210|078383|078472|078670|091298|200044|200268|202456|202467|204133|206738|207806|210165"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19990715", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:66eef347-2c9d-57db-a3e2-813a12d2080e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012970)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CCc1ccc(CCOc2ccc(CC3SC(=O)NC3=O)cc2)nc1.Cl", "name": "pioglitazone", "provided_by": ["infores:medic"], "synonym": ["PIOGLITAZONE HYDROCHLORIDE", "Pioglitazone", "Pioglitazone 15mg/30mg + MetFormin ER 1000mg tablet (additional strength)", "Pioglitazone and Metformin Tablets (15 mg/500 mg)", "Pioglitazone and Metformin Tablets (15 mg/850 mg)", "pioglitazone", "pioglitazone;glimepiride", "pioglitazone;metformin", "吡格列酮二甲双胍片(15mg/500mg)"], "xref": ["CHEMBL.COMPOUND:CHEMBL595", "DRUGBANK:DB01132", "DrugCentral:2179", "GTOPDB:2694", "PHAROS:83H7MQCQ2W8Z", "PUBCHEM.COMPOUND:4829", "UNII:X4OV71U42S"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8229", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20040213", "medic_mention_id": "MEDICNE:f88730e0-d530-5439-be54-29c7b327187c", "medic_reliability": "MEDIUM", "name": "Pioglitazone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Pioglitazone Hydrochloride Capsules", "Pioglitazone Hydrochloride Tablets", "盐酸吡格列酮片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8230", "medic_application_numbers": ["019638"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19900626", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:8e3d0211-7ab0-554c-a95e-0eaae9ecd65b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003343)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "Pipecuronium", "provided_by": ["infores:medic"], "synonym": ["PIPECURONIUM BROMIDE", "Pipecuronium bromide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201206", "DrugCentral:2183", "PHAROS:7CCF2DRN6L3R", "PUBCHEM.COMPOUND:50192", "UNII:1N3O74HM92"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8232", "medic_application_numbers": ["050545|062750|065114|065157"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3847ed52-d4d6-5a1f-85d3-a37ed8c7506b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001380"], "medic_reliability": "HIGH", "medic_smiles": "CCN1CCN(C(=O)N[C@@H](C(=O)N[C@@H]2C(=O)N3[C@@H]2SC(C)(C)[C@@H]3C(=O)[O-])c2ccccc2)C(=O)C1=O.[Na+]", "name": "piperacillin", "provided_by": ["infores:medic"], "synonym": ["PIPERACILLIN HYDRATE", "PIPERACILLIN SODIUM", "PIPERACILLIN SODIUM; TAZOBACTAM SODIUM", "Piperacillin", "Piperacillin Sodium and Tazobactam Sodium for Injection", "Piperacillin+[Tazobactam]", "注射用哌拉西林钠他唑巴坦钠"], "xref": ["DRUGBANK:DB00319", "UNII:X00B0D5O0E"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8233", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20221111", "medic_mention_id": "MEDICNE:6bb2e7a9-fe54-5e30-a12d-259099837fd6", "medic_reliability": "MEDIUM", "name": "piperacillin sodium", "provided_by": ["infores:medic"], "synonym": ["Piperacillin Sodium for Injection", "注射用哌拉西林钠"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82339", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "19610101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:22d691cf-e8d3-51bf-a560-235ef2ab84c2", "medic_registration_numbers": ["MOH_RUSSIA:Р N000448/01"], "medic_reliability": "HIGH", "name": "Merphalan", "provided_by": ["infores:medic"], "synonym": ["Sarcolysin"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82365", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20220815", "medic_mention_id": "MEDICNE:428f2c39-f549-50db-9de6-e4ce0d04dd01", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008446"], "medic_reliability": "MEDIUM", "name": "Palygorskite", "provided_by": ["infores:medic"], "synonym": ["Attapulgite", "Аттапулгит"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82405", "medic_application_numbers": ["214510"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["D10AE01", "D10AE51"], "medic_earliest_approval_date": "20001221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:cc803dc5-3e59-529a-a33d-5020c06c4541", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000822"], "medic_reliability": "HIGH", "medic_smiles": "O=C(OOC(=O)c1ccccc1)c1ccccc1", "name": "Benzoyl peroxide", "provided_by": ["infores:medic"], "synonym": ["BENZOYL PEROXIDE", "BENZOYL PEROXIDE; CLINDAMYCIN PHOSPHATE", "BENZOYL PEROXIDE; TRETINOIN", "Benzoyl Peroxide + Clindamycin", "Benzoyl peroxide", "Бензоила пероксид"], "xref": ["UNII:W9WZN9A0GM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8242", "medic_application_numbers": ["016245"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["L01AX02"], "medic_earliest_approval_date": "19820101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:69aaf472-fb5e-54ac-9b54-97e01867788a", "medic_reliability": "HIGH", "medic_smiles": "O=C(CCBr)N1CCN(C(=O)CCBr)CC1", "name": "pipobroman", "provided_by": ["infores:medic"], "synonym": ["PIPOBROMAN"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8245", "medic_application_numbers": ["019009|020014"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19861230", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1b1c3fbd-1572-5820-8a3b-cd0aa3127206", "medic_reliability": "HIGH", "name": "Pirbuterol", "provided_by": ["infores:medic"], "synonym": ["PIRBUTEROL ACETATE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1094966", "DrugCentral:2199", "PHAROS:R6XT2USJATD1", "PUBCHEM.COMPOUND:4845", "UNII:OG645J8RVW"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82467", "medic_application_numbers": ["008041"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:57b8a46d-697a-5743-ab78-e4c7d8094750", "medic_reliability": "HIGH", "name": "Evans blue", "provided_by": ["infores:medic"], "synonym": ["EVANS BLUE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200712", "DrugCentral:3217", "PHAROS:DYXR26ZVKG95", "UNII:D56DN867MV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8247", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081016", "medic_mention_id": "MEDICNE:d6df71fb-b289-52e1-85b5-8a2b44722064", "medic_registration_numbers": ["MOH_RUSSIA:П N014527/01"], "medic_reliability": "MEDIUM", "name": "pirenzepine", "provided_by": ["infores:medic"], "synonym": ["Pirenzepine", "Пирензепин"], "xref": ["GTOPDB:328", "PHAROS:9YCCSB38CVR4", "PUBCHEM.COMPOUND:4848"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8249", "medic_application_numbers": ["018147|073536|073637|073638|073651|074036|074043|074102|074103|074118|074131|074148|074287|074460|074808|205585|206136|206152|207938|208340|208991|209256|210347"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19810101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9438bf7d-b47b-55ae-a8c6-00e5bc0bc6aa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002664"], "medic_reliability": "HIGH", "medic_smiles": "CN1C(C(=O)Nc2ccccn2)=C(OC(=O)/C=C/c2ccccc2)c2ccccc2S1(=O)=O", "name": "piroxicam", "provided_by": ["infores:medic"], "synonym": ["PIROXICAM", "Piroxicam", "Piroxicam 0.5% Gel", "Piroxicam Hydrochloride Tablets", "Piroxicam USP 20mg/ml (i.m) Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL527", "DRUGBANK:DB00554", "DrugCentral:2210", "GTOPDB:7273", "PHAROS:Q9N87PPJUMWQ", "PUBCHEM.COMPOUND:54676228", "UNII:13T4O6VMAM"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82524", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["L01AA08"], "medic_earliest_approval_date": "19810101", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:02f1fb2e-424a-5eb5-aba4-af34bf10b232", "medic_reliability": "MEDIUM", "medic_smiles": "C[C@]12C=CC(=O)C=C1CC[C@@H]1[C@@H]2[C@@H](O)C[C@@]2(C)[C@H]1CC[C@]2(O)C(=O)COC(=O)CCCc1ccc(N(CCCl)CCCl)cc1", "name": "Prednimustine", "provided_by": ["infores:medic"], "synonym": ["Prednimustine Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82557", "medic_application_numbers": ["214759"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["L01AB02"], "medic_earliest_approval_date": "20080925", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d9abffa1-b7a1-5f56-9c1d-9dc615bf2a30", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007403"], "medic_reliability": "HIGH", "medic_smiles": "CS(=O)(=O)OC[C@H](O)[C@@H](O)COS(C)(=O)=O", "name": "Treosulfan", "provided_by": ["infores:medic"], "synonym": ["TREOSULFAN", "Treasulfan", "Treosulfan", "Treosulfan Bulk & injection"], "xref": ["DRUGBANK:DB11678", "UNII:CO61ER3EPI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8264", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:175a35eb-5cb4-5853-9ef2-62893d07788d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(005578)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Platyphylline", "provided_by": ["infores:medic"], "synonym": ["Papaverine + Platyphylline", "Platyphylline", "Платифиллин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82698", "medic_application_numbers": ["204569"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["N05CJ01"], "medic_earliest_approval_date": "20140813", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4bf3a195-e093-57e3-a248-4445f2f75a1b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004058"], "medic_reliability": "HIGH", "medic_smiles": "Cc1ccc(-n2nccn2)c(C(=O)N2CCN(c3nc4cc(Cl)ccc4o3)CC[C@H]2C)c1", "name": "suvorexant", "provided_by": ["infores:medic"], "synonym": ["SUVOREXANT", "Suvorexant"], "xref": ["CHEMBL.COMPOUND:CHEMBL1083659", "DRUGBANK:DB09034", "DrugCentral:4881", "PHAROS:2ZFRA41Q4WGJ", "PUBCHEM.COMPOUND:24965990", "UNII:081L192FO9"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82699", "medic_application_numbers": ["206334|214155"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["J01XA05"], "medic_earliest_approval_date": "20140806", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:09ce5b15-306b-55d4-ad12-b2c2ad3880c2", "medic_registration_numbers": ["MOH_RUSSIA:ФС-002354"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@H](CC(C)C)C(=O)N[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)N[C@H]2C(=O)N[C@H]3C(=O)N[C@H](C(=O)N[C@H](C(=O)O)c4cc(O)cc(O)c4-c4cc3ccc4O)[C@H](O[C@H]3C[C@](C)(N)[C@@H](O)[C@H](C)O3)c3ccc(c(Cl)c3)Oc3cc2cc(c3O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O[C@H]2C[C@](C)(NCc3ccc(-c4ccc(Cl)cc4)cc3)[C@@H](O)[C@H](C)O2)Oc2ccc(cc2Cl)[C@H]1O", "name": "oritavancin", "provided_by": ["infores:medic"], "synonym": ["ORITAVANCIN DIPHOSPHATE", "Oritavancin", "oritavancin"], "xref": ["DRUGBANK:DB04911", "UNII:PUG62FRZ2E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82700", "medic_application_numbers": ["206756"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20130329", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c291efc6-799e-5aa5-babd-9851b352adbf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003164"], "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(CC(C)(C)NC[C@H](O)c2cc(O)cc3c2OCC(=O)N3)cc1.Cl", "name": "olodaterol", "provided_by": ["infores:medic"], "synonym": ["OLODATEROL HYDROCHLORIDE", "OLODATEROL HYDROCHLORIDE; TIOTROPIUM BROMIDE", "Olodaterol", "Olodaterol + Tiotropium Bromide"], "xref": ["CHEMBL.COMPOUND:CHEMBL605846,CHEMBL2105743", "DRUGBANK:DB09080", "DrugCentral:4814", "GTOPDB:7543", "PHAROS:ZX6UH2HDUTHB", "PUBCHEM.COMPOUND:11504295,11711522", "UNII:VD2YSN1AFD"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82701", "medic_application_numbers": ["205858|216921"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_atc_codes": ["L01EM01"], "medic_earliest_approval_date": "20140723", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4952f63f-49ac-53d1-a59c-a7108c9fd4d2", "medic_reliability": "HIGH", "medic_smiles": "CC[C@H](Nc1ncnc2[nH]cnc12)c1nc2cccc(F)c2c(=O)n1-c1ccccc1", "name": "idelalisib", "provided_by": ["infores:medic"], "synonym": ["IDELALISIB", "Idelalisib", "Idelalisib 150 mg and 100 mg Tablets and Idelalisib bulk", "idelalisib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2216870", "DRUGBANK:DB09054", "DrugCentral:4878", "GTOPDB:6741", "PHAROS:SRSZU2MKMCYA", "PUBCHEM.COMPOUND:11625818", "UNII:YG57I8T5M0"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82702", "medic_application_numbers": ["204886"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140508", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:198c40ce-fb75-5e52-bb52-ec8a50452b66", "medic_reliability": "HIGH", "name": "vorapaxar", "provided_by": ["infores:medic"], "synonym": ["VORAPAXAR SULFATE", "Vorapaxar"], "xref": ["CHEMBL.COMPOUND:CHEMBL4226439", "DRUGBANK:DB09030", "PHAROS:75JV5NS7AHZQ", "PUBCHEM.COMPOUND:57892463", "UNII:ZCE93644N2"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82717", "medic_application_numbers": ["205435|205436"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["J01XX11"], "medic_earliest_approval_date": "20140620", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d2780630-f3c1-5ba2-80cf-e26ff383d85d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003660"], "medic_reliability": "HIGH", "medic_smiles": "Cn1nnc(-c2ccc(-c3ccc(N4C[C@H](CO)OC4=O)cc3F)cn2)n1", "name": "tedizolid", "provided_by": ["infores:medic"], "synonym": ["TEDIZOLID PHOSPHATE", "Tedizolid", "tedizolid phosphate"], "xref": ["DRUGBANK:DB14569", "UNII:97HLQ82NGL"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82718", "medic_application_numbers": ["203567|211827|211851|211969|212027|212066|212169|212178"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["D01AC19"], "medic_earliest_approval_date": "20140606", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:666f90ef-e2d4-5ab3-ac30-f72660a54d48", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006850)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C=C1CCN([C@H](C)[C@](O)(Cn2cncn2)c2ccc(F)cc2F)CC1", "name": "efinaconazole", "provided_by": ["infores:medic"], "synonym": ["EFINACONAZOLE", "Efinaconazole"], "xref": ["DRUGBANK:DB09040"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82720", "medic_application_numbers": ["206111|208658|212198"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A10BK03"], "medic_earliest_approval_date": "20140522", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a10915ad-13a3-5394-8ce5-332893fe82f3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002735"], "medic_reliability": "HIGH", "medic_smiles": "OC[C@H]1O[C@@H](c2ccc(Cl)c(Cc3ccc(O[C@H]4CCOC4)cc3)c2)[C@H](O)[C@@H](O)[C@@H]1O", "name": "empagliflozin", "provided_by": ["infores:medic"], "synonym": ["EMPAGLIFLOZIN", "EMPAGLIFLOZIN; LINAGLIPTIN", "EMPAGLIFLOZIN; LINAGLIPTIN; METFORMIN HYDROCHLORIDE", "EMPAGLIFLOZIN; METFORMIN HYDROCHLORIDE", "Empagliflozin", "Empagliflozin Tablets", "Empagliflozin and Metformin Extended-Release Tablets (IV)", "Emphagliflozin Tablet", "empagliflozin", "empagliflozin;linagliptin", "empagliflozin;metformin"], "xref": ["CHEMBL.COMPOUND:CHEMBL2107830", "DRUGBANK:DB09038", "DrugCentral:4830", "GTOPDB:4754", "PHAROS:QKPY8TZ7VLHD", "PUBCHEM.COMPOUND:11949646", "UNII:HDC1R2M35U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82721", "medic_application_numbers": ["021883|217591|218602|218929|219465"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["J01XA04"], "medic_earliest_approval_date": "20140523", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:47477033-142a-5218-9620-829133e5080a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004255"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@H]1C(=O)N[C@@H]2Cc3ccc(cc3)Oc3cc4cc(c3O[C@@H]3O[C@H](C(=O)O)[C@@H](O)[C@H](O)[C@H]3NC(=O)CCCCCCCCC(C)C)Oc3ccc(cc3Cl)[C@@H](O)[C@@H]3NC(=O)[C@H](NC(=O)[C@@H]4NC(=O)[C@@H](NC2=O)c2cc(cc(O)c2Cl)Oc2cc1ccc2O)c1ccc(O)c(c1)-c1c(O[C@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@@H]2O)cc(O)cc1[C@@H](C(=O)NCCCN(C)C)NC3=O", "name": "dalbavancin", "provided_by": ["infores:medic"], "synonym": ["DALBAVANCIN HYDROCHLORIDE", "Dalbavancin", "dalbavancin"], "xref": ["DRUGBANK:DB06219", "UNII:808UI9MS5K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82722", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["R05DB27"], "medic_earliest_approval_date": "20191114", "medic_mention_id": "MEDICNE:42973e2b-6f1f-52fa-aabe-7c477e3ac762", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005912"], "medic_reliability": "MEDIUM", "medic_smiles": "OC[C@@H](O)CN1CCN(c2ccccc2)CC1", "name": "levodropropizine", "provided_by": ["infores:medic"], "synonym": ["Levodropropizine", "Леводропропизин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82752", "medic_application_numbers": ["205494|212369|212420|212425|212449|212463|212474"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A16AX10"], "medic_earliest_approval_date": "20140819", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4fa38f00-71f3-5758-a85d-deb7f550af70", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003867"], "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCC(=O)N[C@H](CN1CCCC1)[C@H](O)c1ccc2c(c1)OCCO2", "name": "eliglustat", "provided_by": ["infores:medic"], "synonym": ["ELIGLUSTAT TARTRATE", "Eliglustat", "Eliglustat 84mg Capsules", "eliglustat"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110588", "DRUGBANK:DB09039", "DrugCentral:4834", "PHAROS:LJXP8S6ZRYF3", "PUBCHEM.COMPOUND:23652731", "UNII:DR40J4WA67"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82862", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["D01AC17"], "medic_earliest_approval_date": "20070101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:efb53399-a799-57d4-a88c-b489e166eb12", "medic_reliability": "MEDIUM", "medic_smiles": "Clc1cc(Cl)c2c(c1)CCc1ccccc1C2n1ccnc1", "name": "eberconazole", "provided_by": ["infores:medic"], "synonym": ["Eberconazole cream (1%)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82863", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["D01AC12", "G01AF12"], "medic_earliest_approval_date": "20061229", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:48b5c02e-916c-5034-9082-3f726413a71d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008860)-(РГ-RU)"], "medic_reliability": "MEDIUM", "medic_smiles": "Clc1ccc(C(Cn2ccnc2)OCc2ccc(Sc3ccccc3)cc2)c(Cl)c1", "name": "fenticonazole", "provided_by": ["infores:medic"], "synonym": ["Fenticonazole", "Фентиконазол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82865", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081105", "medic_mention_id": "MEDICNE:25d731b5-0224-5d12-9535-14ca33c187f0", "medic_registration_numbers": ["MOH_RUSSIA:П N014588/01"], "medic_reliability": "MEDIUM", "name": "isoconazole", "provided_by": ["infores:medic"], "synonym": ["Diflucortolone + Isoconazole", "Isoconazole", "Дифлукортолон+Изоконазол"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82866", "medic_application_numbers": ["021385"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20031210", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e698f7a7-31ca-5aaf-a6a8-4364a3ff7d4f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001521"], "medic_reliability": "HIGH", "medic_smiles": "Clc1ccc(C(Cn2ccnc2)OCc2csc3c(Cl)cccc23)c(Cl)c1.O=[N+]([O-])O", "name": "sertaconazole", "provided_by": ["infores:medic"], "synonym": ["SERTACONAZOLE NITRATE", "Sertaconazole"], "xref": ["DRUGBANK:DB01153"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82941", "medic_application_numbers": ["021548|022116|204024|204060"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20031020", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ddb59988-c193-5003-928b-d35e93d13b43", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-006538"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)CN(C[C@@H](OP(=O)([O-])[O-])[C@H](Cc1ccccc1)NC(=O)O[C@H]1CCOC1)S(=O)(=O)c1ccc(N)cc1.[Ca+2]", "name": "fosamprenavir", "provided_by": ["infores:medic"], "synonym": ["FOSAMPRENAVIR CALCIUM", "Fosamprenavir"], "xref": ["DRUGBANK:DB01319"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82960", "medic_application_numbers": ["022145|203045|203540|205786|217990"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["J05AJ01"], "medic_earliest_approval_date": "20071012", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6b352a0f-33d3-5c69-acc8-ffb1a9318906", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002927"], "medic_reliability": "HIGH", "medic_smiles": "Cc1nnc(C(=O)NC(C)(C)c2nc(C(=O)NCc3ccc(F)cc3)c(O)c(=O)n2C)o1", "name": "raltegravir", "provided_by": ["infores:medic"], "synonym": ["RALTEGRAVIR POTASSIUM", "Raltegravir", "raltegravir"], "xref": ["CHEMBL.COMPOUND:CHEMBL254316", "DRUGBANK:DB06817", "DrugCentral:2352", "PHAROS:U1VNUH9RCCKL", "PUBCHEM.COMPOUND:54671008", "UNII:22VKV8053U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82975", "medic_application_numbers": ["204760"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_atc_codes": ["A06AH03"], "medic_earliest_approval_date": "20140916", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:469763ff-640f-51cf-93db-1d78f97fee3b", "medic_reliability": "HIGH", "medic_smiles": "C=CCN1CC[C@]23c4c5ccc(O)c4O[C@H]2[C@@H](OCCOCCOCCOCCOCCOCCOCCOC)CC[C@@]3(O)[C@H]1C5.O=C(O)C(=O)O", "name": "naloxegol", "provided_by": ["infores:medic"], "synonym": ["NALOXEGOL OXALATE", "Naloxegol", "naloxegol"], "xref": ["CHEMBL.COMPOUND:CHEMBL2219418", "DRUGBANK:DB09049", "DrugCentral:4832", "PHAROS:N6ZQ8UXKJUYM", "PUBCHEM.COMPOUND:56959087", "UNII:44T7335BKE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:82977", "medic_application_numbers": ["206843"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["india", "japan", "russia", "usa"], "medic_atc_codes": ["J05AP07"], "medic_earliest_approval_date": "20150714", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e0a13c0c-195a-5da6-b7e3-ba9a31fc1886", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003088"], "medic_reliability": "HIGH", "medic_smiles": "COC(=O)N[C@H](C(=O)N1CCC[C@H]1c1ncc(-c2ccc(-c3ccc(-c4cnc([C@@H]5CCCN5C(=O)[C@@H](NC(=O)OC)C(C)C)[nH]4)cc3)cc2)[nH]1)C(C)C", "name": "daclatasvir", "provided_by": ["infores:medic"], "synonym": ["DACLATASVIR DIHYDROCHLORIDE", "DACLATASVIR HYDROCHLORIDE", "Daclatasvir"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:82978", "medic_application_numbers": ["022264|207946|216352"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "20061219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:273628a7-5875-5381-8aa8-285cfd5647af", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003861"], "medic_reliability": "HIGH", "name": "paliperidone", "provided_by": ["infores:medic"], "synonym": ["PALIPERIDONE", "PALIPERIDONE PALMITATE", "Paliperidone", "Paliperidone ER Tablet 3mg / 6mg / 9mg", "Paliperidone ER Tablets 1.5mg", "Paliperidone ER tablet 12 mg (Additional Strength)", "Paliperidone Extended-Release Tablets", "paliperidone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1621", "DRUGBANK:DB01267", "DrugCentral:4137", "PHAROS:L99B6UJ2QS43", "PUBCHEM.COMPOUND:115237", "UNII:838F01T721"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8310", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250527", "medic_mention_id": "MEDICNE:470e4607-8019-5613-bd79-3bc02c85809c", "medic_reliability": "MEDIUM", "name": "Polymyxin B sulfate", "provided_by": ["infores:medic"], "synonym": ["Polymyxin B Sulfate for Injection", "注射用硫酸多黏菌素B"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:8380", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19980608", "medic_mention_id": "MEDICNE:e249f2ca-54de-54ca-b0a5-847cd97d88f6", "medic_reliability": "MEDIUM", "name": "Prednisolone acetate", "provided_by": ["infores:medic"], "synonym": ["Prednisolone Acetate Eye Drops", "醋酸泼尼松龙滴眼液"], "xref": ["CHEMBL.COMPOUND:CHEMBL1152", "DrugCentral:2247", "PHAROS:VMVMVZBKNCTD", "PUBCHEM.COMPOUND:5834", "UNII:8B2807733D"]}
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{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:85146", "medic_stub": true, "name": "carboxymethylcellulose", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:85157", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_atc_codes": ["A04AA05", "A04AA55"], "medic_earliest_approval_date": "20181108", "medic_mention_id": "MEDICNE:29280ac3-f5e3-578c-ac9f-c37e50f87cdd", "medic_reliability": "LOW", "medic_smiles": "O=C1c2cccc3c2[C@H](CCC3)CN1[C@@H]1CN2CCC1CC2", "name": "palonosetron hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Paronosetron Hydrochloride Injection", "盐酸帕洛诺司琼注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85161", "medic_application_numbers": ["021372|022233|090713|201533|202521|202951|203050|204289|204615|204702|205648|205870|206396|206416|206801|206802|206916|207005|207963|208109|208789|209287|215861"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A04AA05", "A04AA55"], "medic_earliest_approval_date": "20030725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b6618bcb-3002-54e3-81f5-f8b5476e9d45", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000716"], "medic_reliability": "HIGH", "medic_smiles": "O=C1c2cccc3c2[C@H](CCC3)CN1[C@@H]1CN2CCC1CC2", "name": "palonosetron", "provided_by": ["infores:medic"], "synonym": ["PALONOSETRON HYDROCHLORIDE", "Palonesetron Injection 0.25mg/5ml (Additional Indication)", "Palonosetron", "Polonosetron (As Hcl.) For Injection 0.25mg/5ml", "palonosetron"], "xref": ["CHEMBL.COMPOUND:CHEMBL1189679", "DRUGBANK:DB00377", "DrugCentral:2046", "GTOPDB:7486", "PHAROS:3YHPAZH6MUP1", "PUBCHEM.COMPOUND:6337614", "UNII:5D06587D6R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85164", "medic_approved_authorities": ["CDSCO", "EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia"], "medic_atc_codes": ["L01EX09"], "medic_earliest_approval_date": "20141121", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:3741cbd4-047c-5545-ba25-8668da0e7bc7", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002830"], "medic_reliability": "HIGH", "medic_smiles": "COC(=O)c1ccc2c(c1)NC(=O)/C2=C(\\Nc1ccc(N(C)C(=O)CN2CCN(C)CC2)cc1)c1ccccc1", "name": "nintedanib", "provided_by": ["infores:medic"], "synonym": ["100/150mg (Nintedanib", "Nintedanib", "nintedanib"], "xref": ["CHEMBL.COMPOUND:CHEMBL502835,CHEMBL3039504", "DRUGBANK:DB09079", "DrugCentral:4903", "GTOPDB:5936", "PHAROS:41D7PT4QXULZ", "PUBCHEM.COMPOUND:9809715", "UNII:G6HRD2P839"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85170", "medic_application_numbers": ["205832"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20141015", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:aac755f0-feb7-5d57-8d1b-2e623ae416b1", "medic_reliability": "HIGH", "medic_smiles": "CCS(=O)(=O)O.COC(=O)c1ccc2c(c1)NC(=O)/C2=C(\\Nc1ccc(N(C)C(=O)CN2CCN(C)CC2)cc1)c1ccccc1", "name": "nintedanib esylate", "provided_by": ["infores:medic"], "synonym": ["NINTEDANIB ESYLATE", "NINTEDANIB ETHANESULFONATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85176", "medic_application_numbers": ["206307"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20141217", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0f25c56e-370d-52d2-8a60-b3ef4d77ec2e", "medic_reliability": "HIGH", "medic_smiles": "N#Cc1c(N2C[C@@H]3NCCO[C@H]3C2)c(F)cc2c(=O)c(C(=O)O)cn(C3CC3)c12", "name": "finafloxacin", "provided_by": ["infores:medic"], "synonym": ["FINAFLOXACIN"], "xref": ["UNII:D26OSN9Q4R"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85179", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20170920", "medic_mention_id": "MEDICNE:2e1ed4f8-13a3-5ba7-8dde-5a29eacbecd2", "medic_reliability": "MEDIUM", "name": "dasabuvir sodium", "provided_by": ["infores:medic"], "synonym": ["Dasabuvir Sodium Tablets", "达塞布韦钠片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85182", "medic_application_numbers": ["208624"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20150421", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:55312f7d-3552-5ed8-9c49-83f846e3f6d3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002965"], "medic_reliability": "HIGH", "name": "dasabuvir", "provided_by": ["infores:medic"], "synonym": ["DASABUVIR SODIUM; OMBITASVIR; PARITAPREVIR; RITONAVIR", "Dasabuvir", "Dasabuvir; Ombitasvir + Paritaprevir + Ritonavir"], "xref": ["DRUGBANK:DB09183"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85183", "medic_application_numbers": ["207931"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20150724", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:de3b4d3e-baa4-509f-9fdb-1d91b6303dba", "medic_reliability": "HIGH", "name": "ombitasvir", "provided_by": ["infores:medic"], "synonym": ["OMBITASVIR HYDRATE", "OMBITASVIR; PARITAPREVIR; RITONAVIR", "Ombitasvir"], "xref": ["DRUGBANK:DB09296"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85188", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20150928", "medic_mention_id": "MEDICNE:d70cb643-0c6f-5cb8-bbd2-77dd55aeb7d3", "medic_reliability": "HIGH", "name": "paritaprevir", "provided_by": ["infores:medic"], "synonym": ["PARITAPREVIR HYDRATE", "Paritaprevir"], "xref": ["DRUGBANK:DB09297"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85202", "medic_application_numbers": ["206426"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["J05AH03"], "medic_earliest_approval_date": "20101027", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:19953043-5069-5ead-bf6a-081690b34c22", "medic_reliability": "HIGH", "medic_smiles": "CCC(CC)[C@H](NC(C)=O)[C@@H]1[C@H](O)[C@@H](C(=O)O)C[C@H]1NC(=N)N", "name": "peramivir", "provided_by": ["infores:medic"], "synonym": ["PERAMIVIR", "PERAMIVIR HYDRATE", "Peramivir"], "xref": ["DRUGBANK:DB06614"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85260", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20051028", "medic_mention_id": "MEDICNE:26c96746-4bb8-5055-b0cf-527a9f26d57d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007069"], "medic_reliability": "HIGH", "name": "spiramycin I", "provided_by": ["infores:medic"], "synonym": ["Spiramycin"], "xref": ["DRUGBANK:DB06145"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85267", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["J01MB07"], "medic_earliest_approval_date": "19810101", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:6f7fb7dd-407a-527d-9751-e720d7e78525", "medic_reliability": "MEDIUM", "medic_smiles": "CC1CCc2cc(F)cc3c(=O)c(C(=O)O)cn1c23", "name": "flumequine", "provided_by": ["infores:medic"], "synonym": ["Flumequine(For Veterinary)"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85364", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19980128", "medic_mention_id": "MEDICNE:9332bbed-f644-564b-a4d9-d7d4c0e0f94f", "medic_reliability": "MEDIUM", "name": "ammonium bromide", "provided_by": ["infores:medic"], "synonym": ["Ammonium Bromide Tablets", "奥替溴铵片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85467", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20050520", "medic_mention_id": "MEDICNE:d2b6be18-4010-546d-8282-a548535ad607", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001141"], "medic_reliability": "MEDIUM", "name": "[4)-alpha-D-Glcp-(1->4)-alpha-D-Glcp-(1->4)-alpha-D-Glcp-(1->] residue", "provided_by": ["infores:medic"], "synonym": ["Acetylsalicylic acid + [Magnesium hydroxide]", "Amoxicillin + [Clavulanic Acid]", "Amoxicillin + [Sulbactam]", "Benzocaine + Procaine + [Levomenthol]", "Bupivacaine + [Epinephrine]", "Caffeine + Paracetamol + Chlorphenamine + [Ascorbic Acid]", "Caffeine + Paracetamol + Phenylephrine + Pheniramine + [Ascorbic Acid]", "Camphor + Chlorobutanol + Eucalyptus globulus leaf oil + [Levomenthol]", "Cefepime + [Sulbactam]", "Cefoperazone + [Sulbactam]", "Cefotaxime + [Sulbactam]", "Ceftazidime + [Avibactam]", "Glaucine + Ephedrine + [Basil Oil]", "Glaucine + Ephedrine + [Salvia officinalis leaf oil]", "Glucosamine+[Lidocaine]", "Ibuprofen+[Levomenthol]", "Imipenem+[Cilastatin]", "Imipenem+[Relebactam]+[Cilastatin]", "Isoniazid + Ethambutol + [Pyridoxine]", "Isoniazid + Pyrazinamide + Rifampin + Ethambutol + [Pyridoxine]", "Isoniazid + Pyrazinamide + Rifampin + [Pyridoxine]", "Isoniazid + Pyrazinamide + [Pyridoxine]", "Isoniazid + Rifampicin + [Pyridoxine]", "Isoniazid + [Pyridoxine]", "Levodopa + Entacapone + [Carbidopa]", "Levodopa + [Benserazide]", "Levodopa + [Carbidopa]", "Methyl salicylate + [Levomenthol]", "Methyl salicylate + [racementhol]", "Paclitaxel + [Albumin]", "Paracetamol + Chlorphenamine + [Ascorbic Acid]", "Paracetamol + Phenylephrine + Chlorphenamine + [Ascorbic Acid]", "Paracetamol + Phenylephrine + Pheniramine + [Ascorbic Acid]", "Paracetamol + Phenylephrine + [Ascorbic Acid]", "Paracetamol + [Ascorbic Acid]", "Phenylbutazone + [Lidocaine]", "Pilocarpine+[Hypromellose]", "Sibutramine + [Microcrystalline cellulose]", "Sodium Heparin + Benzocaine + [Benzyl Nicotinate]", "Tolperisone + [Lidocaine]", "Имипенем+[Циластатин]"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85662", "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["A10BJ03"], "medic_earliest_approval_date": "20130628", "medic_features": ["GLUCOSE_REGULATOR"], "medic_mention_id": "MEDICNE:b0a9f3db-463a-5bd4-b1e4-3c36c60a2038", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004874"], "medic_reliability": "HIGH", "name": "lixisenatide", "provided_by": ["infores:medic"], "synonym": ["Insulin glargine + Lixisenatide", "LIXISENATIDE", "Lixisenatide", "lixisenatide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108336", "DRUGBANK:DB09265", "DrugCentral:4815", "PHAROS:XJ4P3W2F4DUC", "UNII:74O62BB01U"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8583", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20230721", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f7ba4fd5-a33b-578d-802e-086125b1bc5c", "medic_reliability": "LOW", "name": "Prothrombin", "provided_by": ["infores:medic"], "synonym": ["Prothrombin complex concentrate, human-lans"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85966", "medic_application_numbers": ["209964"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20051025", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4c6ca5b2-38dd-57b6-927a-e41dde7babcd", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002544"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2c(cc1OC)CC(=O)N(CCCN(C)C[C@H]1Cc3cc(OC)c(OC)cc31)CC2.Cl", "name": "ivabradine", "provided_by": ["infores:medic"], "synonym": ["IVABRADINE", "IVABRADINE HYDROCHLORIDE", "Ivabradin", "Ivabradine", "Ivabradine (Hcl.) 5mg/7.5mg Tablets", "Ivabradine + Metoprolol", "Ivabradine HCL Tablets 5mg/7.5mg (Additional indication)", "Ivabradine Tablets 5mg/7.5mg (Additional Indication)", "ivabradine"], "xref": ["CHEMBL.COMPOUND:CHEMBL471737", "DRUGBANK:DB09083", "DrugCentral:3312", "GTOPDB:2357", "PHAROS:338M8NHVYV2L", "PUBCHEM.COMPOUND:132999", "UNII:3H48L0LPZQ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85969", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20150429", "medic_mention_id": "MEDICNE:4bff88bd-9130-5936-a8c1-8c4abf1d0e13", "medic_reliability": "MEDIUM", "name": "ivabradine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ivabradine Hydrochloride Tablets", "盐酸伊伐布雷定片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8597", "medic_application_numbers": ["016012|073644|073645|078913|090462|202220"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["N06AA11"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e62fa9c3-8dad-560f-b50a-b003c16b75b9", "medic_reliability": "HIGH", "medic_smiles": "CNCCCC1c2ccccc2C=Cc2ccccc21", "name": "protriptyline", "provided_by": ["infores:medic"], "synonym": ["PROTRIPTYLINE HYDROCHLORIDE", "Protriptyline", "Protriptyline Hcl. 5mg/10mg Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL668", "DRUGBANK:DB00344", "DrugCentral:2320", "GTOPDB:7285", "PHAROS:DKSR4U8163BL", "PUBCHEM.COMPOUND:4976", "UNII:4NDU154T12"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85973", "medic_application_numbers": ["206316"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["B01AF03"], "medic_earliest_approval_date": "20150108", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:68e4910e-b1bf-51c5-8d67-0a629638223f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000022)-(ГП-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCc2nc(C(=O)N[C@@H]3C[C@@H](C(=O)N(C)C)CC[C@@H]3NC(=O)C(=O)Nc3ccc(Cl)cn3)sc2C1", "name": "edoxaban", "provided_by": ["infores:medic"], "synonym": ["EDOXABAN TOSYLATE", "Edoxaban", "Edoxaban Tablets 15mg, 30mg and 60mg", "edoxaban"], "xref": ["CHEMBL.COMPOUND:CHEMBL1269025", "DRUGBANK:DB09075", "DrugCentral:4897", "GTOPDB:7575", "PHAROS:H4H6UMZTCDHY", "PUBCHEM.COMPOUND:10280735", "UNII:NDU3J18APO"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85974", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20250211", "medic_mention_id": "MEDICNE:7bc7067b-c1e1-5f66-856a-0b4eecb84cb1", "medic_reliability": "MEDIUM", "name": "edoxaban tosylate hydrate", "provided_by": ["infores:medic"], "synonym": ["Edoxaban Tosylate Monohydrate Bulk Drug"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85975", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20110422", "medic_mention_id": "MEDICNE:46b49a3b-b53c-5209-9d0c-714d9eb6600f", "medic_reliability": "HIGH", "name": "edoxaban tosylate", "provided_by": ["infores:medic"], "synonym": ["EDOXABAN TOSILATE HYDRATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85978", "medic_application_numbers": ["207500|207501"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20150306", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ef059e33-13ce-5781-ac45-d3fe2e8b4e6c", "medic_reliability": "HIGH", "medic_smiles": "CNCC(=O)OCc1cccnc1N(C)C(=O)OC(C)[n+]1cnn(C[C@](O)(c2cc(F)ccc2F)[C@@H](C)c2nc(-c3ccc(C#N)cc3)cs2)c1", "name": "isavuconazonium", "provided_by": ["infores:medic"], "synonym": ["ISAVUCONAZONIUM SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85979", "medic_approved_authorities": ["CDSCO", "EMA"], "medic_approved_jurisdictions": ["europe", "india"], "medic_atc_codes": ["J02AC05"], "medic_earliest_approval_date": "20151015", "medic_features": ["ANTIMICROBIAL"], "medic_mention_id": "MEDICNE:ae6f69ac-598a-5475-877d-064e7d02e07e", "medic_reliability": "HIGH", "medic_smiles": "C[C@@H](c1nc(-c2ccc(C#N)cc2)cs1)[C@](O)(Cn1cncn1)c1cc(F)ccc1F", "name": "isavuconazole", "provided_by": ["infores:medic"], "synonym": ["Isavuconazole", "Isavuconazole (as Isavuconazoniumsulfate) 200mg powder for concentrate for solution for infusion", "isavuconazole"], "xref": ["DRUGBANK:DB11633", "UNII:60UTO373KE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85980", "medic_application_numbers": ["206940|213522"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A07DA06"], "medic_earliest_approval_date": "20150527", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b69ca044-b4d9-5f48-9dc9-279e65d8ec1f", "medic_reliability": "HIGH", "medic_smiles": "COc1ccc(CN(C(=O)[C@@H](N)Cc2c(C)cc(C(N)=O)cc2C)[C@@H](C)c2ncc(-c3ccccc3)[nH]2)cc1C(=O)O", "name": "eluxadoline", "provided_by": ["infores:medic"], "synonym": ["ELUXADOLINE", "Eluxadoline"], "xref": ["CHEMBL.COMPOUND:CHEMBL2159122", "DRUGBANK:DB09272", "DrugCentral:5001", "GTOPDB:7691", "PHAROS:K7W3932HVKSB", "PUBCHEM.COMPOUND:130406582,11250029", "UNII:45TPJ4MBQ1"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85984", "medic_application_numbers": ["206494"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20150225", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:095850f9-2828-53aa-b7a6-43f4beaa9221", "medic_reliability": "HIGH", "medic_smiles": "NC(=O)[C@@H]1CC[C@@H]2CN1C(=O)N2OS(=O)(=O)O", "name": "avibactam", "provided_by": ["infores:medic"], "synonym": ["AVIBACTAM SODIUM", "AVIBACTAM SODIUM; AZTREONAM", "AVIBACTAM SODIUM; CEFTAZIDIME", "Avibactam"], "xref": ["DRUGBANK:DB09060", "UNII:7352665165"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85989", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20181001", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:0bd9c01e-f0b2-51e7-a9c9-595961900873", "medic_reliability": "LOW", "name": "Avycaz", "provided_by": ["infores:medic"], "synonym": ["Ceftazidime 2gm/Avibactam 0.5 gm powder for concentrate for solution for infusion"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85990", "medic_application_numbers": ["205353"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01XH03"], "medic_earliest_approval_date": "20150223", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e0d56cb2-bd12-5219-8b74-e0d1c280287f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003731"], "medic_reliability": "HIGH", "medic_smiles": "Cc1[nH]c2ccccc2c1CCNCc1ccc(/C=C/C(=O)NO)cc1", "name": "panobinostat", "provided_by": ["infores:medic"], "synonym": ["10mg/15mg/20mg (Panobinostat", "PANOBINOSTAT LACTATE", "Panobinostat", "panobinostat"], "xref": ["CHEMBL.COMPOUND:CHEMBL483254", "DRUGBANK:DB06603", "DrugCentral:4682", "GTOPDB:7489", "PHAROS:DV83J283Y51H", "PUBCHEM.COMPOUND:6918837", "UNII:9647FM7Y3Z"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85993", "medic_application_numbers": ["207103|212436|215570"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EF01"], "medic_earliest_approval_date": "20150203", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7f22ab52-79ba-5a8d-9698-d7468d01af91", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003878"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)c1c(C)c2cnc(Nc3ccc(N4CCNCC4)cn3)nc2n(C2CCCC2)c1=O", "name": "palbociclib", "provided_by": ["infores:medic"], "synonym": ["PALBOCICLIB", "Palbociclib", "Palbociclib Capsules", "Palbociclib Tablets", "palbociclib"], "xref": ["CHEMBL.COMPOUND:CHEMBL189963", "DRUGBANK:DB09073", "DrugCentral:4941", "GTOPDB:7380", "PHAROS:KWDWHUTKXUR4", "PUBCHEM.COMPOUND:5330286", "UNII:G9ZF61LE7G"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:85994", "medic_application_numbers": ["206947"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["L01EX08"], "medic_earliest_approval_date": "20150213", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5ff76ede-6af0-505d-b98c-5cffc76acb16", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003398"], "medic_reliability": "HIGH", "medic_smiles": "COc1cc2nccc(Oc3ccc(NC(=O)NC4CC4)c(Cl)c3)c2cc1C(N)=O", "name": "lenvatinib", "provided_by": ["infores:medic"], "synonym": ["LENVATINIB MESYLATE", "Lenvatinib", "lenvatinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1289601", "DRUGBANK:DB09078", "DrugCentral:4942", "GTOPDB:7426", "PHAROS:U3UTLYD2YFNQ", "PUBCHEM.COMPOUND:9823820", "UNII:EE083865G2"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85995", "medic_approved_authorities": ["NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan"], "medic_earliest_approval_date": "20150326", "medic_mention_id": "MEDICNE:c02b1bfd-90b3-5037-ad3b-5dccb786a03b", "medic_reliability": "MEDIUM", "medic_smiles": "COc1cc2nccc(Oc3ccc(NC(=O)NC4CC4)c(Cl)c3)c2cc1C(N)=O.CS(=O)(=O)O", "name": "lenvatinib mesylate", "provided_by": ["infores:medic"], "synonym": ["LENVATINIB MESILATE", "Lenvatinib Mesylate Capsules", "甲磺酸仑伐替尼胶囊"]}
{"category": ["biolink:Drug"], "id": "CHEBI:85999", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20180428", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:72ec2142-a741-51e1-8ecf-135ebbb56b92", "medic_reliability": "MEDIUM", "name": "Prestalia", "provided_by": ["infores:medic"], "synonym": ["Perindopril and Amlodipine Tablets (I)", "Perindopril and Amlodipine Tablets (III)", "培哚普利氨氯地平片（III）"]}
{"category": ["biolink:Drug"], "id": "CHEBI:86158", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:9c0d1799-9657-5432-a8b2-e320bf3f062e", "medic_registration_numbers": ["MOH_RUSSIA:64/228/103"], "medic_reliability": "HIGH", "name": "calcium chloride dihydrate", "provided_by": ["infores:medic"], "synonym": ["Calcium chloride"], "xref": ["DRUGBANK:DB01164"]}
{"category": ["biolink:Drug"], "id": "CHEBI:86345", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["A12CC01", "B05XA11"], "medic_earliest_approval_date": "20130603", "medic_mention_id": "MEDICNE:2042c169-068e-502d-a0e4-f492f788dd3e", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000594"], "medic_reliability": "MEDIUM", "medic_smiles": "O.O.O.O.O.O.[Cl-].[Cl-].[Mg+2]", "name": "magnesium dichloride hexahydrate", "provided_by": ["infores:medic"], "synonym": ["magnesium chloride hexahydrate", "магния хлорида гексагидрат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:86368", "medic_application_numbers": ["020686"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971219", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:b7edc21a-d380-57a5-b4a4-1f6099a91b91", "medic_reliability": "HIGH", "name": "manganese(II) chloride tetrahydrate", "provided_by": ["infores:medic"], "synonym": ["MANGANESE CHLORIDE TETRAHYDRATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:86431", "medic_application_numbers": ["019518"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A01AA02", "A12CD02"], "medic_earliest_approval_date": "19860806", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fe958595-3ee6-5f23-8f04-4f61699b8077", "medic_reliability": "HIGH", "medic_smiles": "O=P([O-])([O-])F.[Na+].[Na+]", "name": "sodium fluorophosphate", "provided_by": ["infores:medic"], "synonym": ["SODIUM MONOFLUOROPHOSPHATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:86477", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20210122", "medic_mention_id": "MEDICNE:cf385663-ba0c-5561-9e6a-791b1c43ef6a", "medic_reliability": "LOW", "name": "sodium sulfite", "provided_by": ["infores:medic"], "synonym": ["ANHYDROUS SODIUM SULFATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8654", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080505", "medic_mention_id": "MEDICNE:86ecb573-792b-55c9-aba0-62a1d26c2774", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000231"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCCN=C1/C=C/c1cccs1.O=C(O)c1cc2ccccc2c(Cc2c(O)c(C(=O)O)cc3ccccc23)c1O", "name": "pyrantel", "provided_by": ["infores:medic"], "synonym": ["Pyrantel", "Pyrantel pamoate"], "xref": ["DRUGBANK:DBSALT001530"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8655", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:8c49a1cc-ea99-5f6b-90c2-88cd83b1cdaa", "medic_reliability": "MEDIUM", "name": "Pyrantel pamoate", "provided_by": ["infores:medic"], "synonym": ["Pyrantel Pamoate USP"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8665", "medic_application_numbers": ["009829|009830|011665|015193|017398|020414|040457|040502|040512|089572|203184|204737|205464|205650|208797|211181|211694|212405|212702|216512|217604"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["N07AA02"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7688b6c6-f963-5f58-838c-ea7c289e136f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003633"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)C(=O)Oc1ccc[n+](C)c1", "name": "Pyridostigmine", "provided_by": ["infores:medic"], "synonym": ["PYRIDOSTIGMINE BROMIDE", "Pyridostigmine", "Pyridostigmine Potassium Eye Drops", "Pyridostigmine bromide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1115,CHEMBL812", "DRUGBANK:DB00545", "DrugCentral:2330", "GTOPDB:8994", "PHAROS:U2FK63XKTVJ7", "PUBCHEM.COMPOUND:4991,91696191", "UNII:19QM69HH21"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8673", "medic_application_numbers": ["008578|207127|211271|215506|216983"], "medic_approved_authorities": ["FDA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "usa"], "medic_atc_codes": ["P01BD01", "P01BD51"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d76fe3e1-4029-5480-8984-66d58a35d0a4", "medic_reliability": "HIGH", "medic_smiles": "CCc1nc(N)nc(N)c1-c1ccc(Cl)cc1", "name": "pyrimethamine", "provided_by": ["infores:medic"], "synonym": ["PYRIMETHAMINE", "PYRIMETHAMINE; SULFADOXINE", "Pyrimethamine", "Pyrimethamine Potassium Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL36", "DRUGBANK:DB00205", "DrugCentral:2332", "GTOPDB:4800", "PHAROS:G5NUG5N82974", "PUBCHEM.COMPOUND:4993", "UNII:Z3614QOX8W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8687", "medic_application_numbers": ["011964|012485"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["P02CX01"], "medic_earliest_approval_date": "19610101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:79bf8ac7-04a7-570a-b382-8c77b3d91487", "medic_reliability": "HIGH", "medic_smiles": "Cc1cc(/C=C/c2ccc3cc(N(C)C)ccc3[n+]2C)c(C)n1-c1ccccc1", "name": "pyrvinium", "provided_by": ["infores:medic"], "synonym": ["PYRVINIUM PAMOATE", "Pyrvinium Pamoate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201303", "DrugCentral:2335", "PHAROS:MLS4NVXQURYK", "PUBCHEM.COMPOUND:22526", "UNII:6B9991FLU3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8694", "medic_application_numbers": ["018708"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["N05CD10"], "medic_earliest_approval_date": "19851227", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6aec6f00-09ef-506d-b002-f3df386e2eba", "medic_reliability": "HIGH", "medic_smiles": "Fc1ccccc1C1=NCC(=S)N(CC(F)(F)F)c2ccc(Cl)cc21", "name": "Quazepam", "provided_by": ["infores:medic"], "synonym": ["QUAZEPAM", "Quazepam"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200472", "DRUGBANK:DB01589", "DrugCentral:2336", "PHAROS:HFP2XRFAYA6S", "PUBCHEM.COMPOUND:4999", "UNII:JF8V0828ZI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:87016", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["N03AF04"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:185365b8-4e84-514d-b84d-e8690809de76", "medic_reliability": "MEDIUM", "medic_smiles": "NC(=O)N1c2ccccc2C[C@H](O)c2ccccc21", "name": "eslicarbazepine acetate", "provided_by": ["infores:medic"], "synonym": ["Eslicarbazepine Acetate Tablets 200mg/400mg/600mg/800mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL87992", "DrugCentral:4303", "PHAROS:SLH8AH6LDCA3", "PUBCHEM.COMPOUND:179344", "UNII:BEA68ZVB2K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8707", "medic_application_numbers": ["020639|022047|077380|077745|078679|090120|090323|090482|090681|090749|090757|090960|091388|200363|201109|201190|201504|201762|202152|202228|202674|202939|203150|203359|203390|204203|204253|204316|205983|206252|206260|206954|207655|208781|208947|209497|209635|211144|211405|215478"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19970926", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b7acd2f3-3915-5987-8936-b69d9c2b5089", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000342"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)/C=C/C(=O)O.OCCOCCN1CCN(C2=Nc3ccccc3Sc3ccccc32)CC1.OCCOCCN1CCN(C2=Nc3ccccc3Sc3ccccc32)CC1", "name": "quetiapine", "provided_by": ["infores:medic"], "synonym": ["QUETIAPINE FUMARATE", "Quetiapine", "Quetiapine (As fumarate) SR 400mg tablet (additional strength)", "Quetiapine Hydrochloride Tablets", "Quetiapine SR Tablets 50mg ( additional strength)"], "xref": ["CHEMBL.COMPOUND:CHEMBL716", "DRUGBANK:DB01224", "DrugCentral:2337", "GTOPDB:50", "PHAROS:KT7VY43USC7W", "PUBCHEM.COMPOUND:5002", "UNII:BGL0JSY5SI"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8708", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "20000616", "medic_mention_id": "MEDICNE:9c1c823c-25f8-50e2-96b0-d33bf4f59965", "medic_reliability": "MEDIUM", "name": "quetiapine fumarate", "provided_by": ["infores:medic"], "synonym": ["Quetiapine Fumarate Extended-Release Tablets", "Quetiapine Fumarate Tablets", "Quetiapine fumarate SR tablets", "富马酸喹硫平缓释片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8713", "medic_application_numbers": ["019885|075504|076036|076049|076240|076459|076607|076694|076803|077690|078457|090800|202725|205823"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19911119", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0fbdc905-1d9d-5966-8713-818318250b40", "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1Cc2ccccc2C[C@H]1C(=O)O.Cl", "name": "quinapril", "provided_by": ["infores:medic"], "synonym": ["QUINAPRIL HYDROCHLORIDE", "Quinapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL1592", "DRUGBANK:DB00881", "DrugCentral:2340", "PHAROS:1W4XLJCGSA9T", "PUBCHEM.COMPOUND:40466957", "UNII:34SSX5LDE5", "UNII:RJ84Y44811"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8716", "medic_application_numbers": ["016768"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4edef357-8a21-5ec7-885d-b148e881af77", "medic_reliability": "HIGH", "medic_smiles": "C#C[C@]1(O)CC[C@H]2[C@@H]3CCc4cc(OC5CCCC5)ccc4[C@H]3CC[C@@]21C", "name": "quinestrol", "provided_by": ["infores:medic"], "synonym": ["QUINESTROL", "Quinestrol 25mcg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201165", "DrugCentral:2342", "PHAROS:AFTHJ991Y62L", "PUBCHEM.COMPOUND:9046", "UNII:JR0N7XD5GZ"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8717", "medic_application_numbers": ["013264"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["C03BA02"], "medic_earliest_approval_date": "19610101", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:0bebac2d-0a31-527f-8fe7-e58a13bf69b9", "medic_reliability": "HIGH", "medic_smiles": "CCC1NC(=O)c2cc(S(N)(=O)=O)c(Cl)cc2N1", "name": "quinethazone", "provided_by": ["infores:medic"], "synonym": ["QUINETHAZONE", "QUINETHAZONE; RESERPINE", "Quinethazone 50mg Tablet"], "xref": ["CHEMBL.COMPOUND:CHEMBL1532", "DrugCentral:2343", "PHAROS:KN6WAW87MUJN", "PUBCHEM.COMPOUND:6307", "UNII:455E0S048W"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8732", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:19d7272e-b9c3-5272-9d9e-db97efd9f825", "medic_reliability": "EXCLUDED", "name": "Quinupristin", "provided_by": ["infores:medic"], "synonym": ["Quinupristin"], "xref": ["DRUGBANK:DB01369"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:88263", "medic_application_numbers": ["006917|007757|008414|084148"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:a270830f-ce3c-5e1d-9b2c-d14438815781", "medic_reliability": "HIGH", "medic_smiles": "Cc1noc(NS(=O)(=O)c2ccc(N)cc2)c1C.OCCNCCO", "name": "sulfisoxazole diolamine", "provided_by": ["infores:medic"], "synonym": ["SULFISOXAZOLE DIOLAMINE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:88312", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240904", "medic_mention_id": "MEDICNE:99c21941-9b1f-5221-ae74-9e5ed7f8fb75", "medic_reliability": "LOW", "name": "nefopam hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Nafopam Hydrochloride Injection", "盐酸奈福泮注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:88316", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["N02BG06"], "medic_earliest_approval_date": "19910101", "medic_mention_id": "MEDICNE:3abad605-ff04-5838-b736-9cb9e193a398", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000181"], "medic_reliability": "HIGH", "medic_smiles": "CN1CCOC(c2ccccc2)c2ccccc2C1", "name": "nefopam", "provided_by": ["infores:medic"], "synonym": ["Nefopam", "Nepopam", "i)Nefopam Hydrochloride 30mg Tablet. ii)Nefopam Hydrochloride 20mg/ml Injection."], "xref": ["DRUGBANK:DB12293"]}
{"category": ["biolink:Drug"], "id": "CHEBI:8862", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["C02AC06"], "medic_earliest_approval_date": "19950221", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:f691e275-001a-5368-bef8-6c7726ed456a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003936)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "C1COC(NC(C2CC2)C2CC2)=N1", "name": "Rilmenidine", "provided_by": ["infores:medic"], "synonym": ["Rilmenidine", "Rilmenidine Dihydrogen Phosphate 1mg Tablet", "Рилменидин"], "xref": ["CHEMBL.COMPOUND:CHEMBL289480", "PHAROS:81WDH495P2XG", "PUBCHEM.COMPOUND:68712"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:8863", "medic_application_numbers": ["020599|076173|091300|091394|091417|203042|204048|204430|206045|209080|212640|216035"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["N07XX02"], "medic_earliest_approval_date": "19951212", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a5ad3fd6-9e5f-56c9-a588-1dacdb0c8a66", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(004883)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Nc1nc2ccc(OC(F)(F)F)cc2s1", "name": "Riluzole", "provided_by": ["infores:medic"], "synonym": ["RILUZOLE", "Riluzole", "Riluzole Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL744", "DRUGBANK:DB00740", "DrugCentral:2382", "GTOPDB:2326", "PHAROS:CTLUL57W2GUZ", "PUBCHEM.COMPOUND:5070", "UNII:7LJ087RS6F"]}
{"category": ["biolink:ChemicalEntity"], "id": "CHEBI:88639", "medic_stub": true, "name": "Ethylhexyl salicylate", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:88839", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:ffd15efd-825f-5fde-9c78-12be573bf4b1", "medic_registration_numbers": ["MOH_RUSSIA:64/228/150"], "medic_reliability": "MEDIUM", "name": "Ethyl salicylate", "provided_by": ["infores:medic"], "synonym": ["Galotan", "Methyl salicylate", "Метилсалицилат"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9011", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "20130404", "medic_mention_id": "MEDICNE:679c529c-0f1e-5b7d-b859-c391712ea5e9", "medic_registration_numbers": ["MOH_RUSSIA:ФС-000540"], "medic_reliability": "HIGH", "name": "salmeterol", "provided_by": ["infores:medic"], "synonym": ["Salmeterol", "salmeterol;fluticasone propionate"], "xref": ["CHEMBL.COMPOUND:CHEMBL1263,CHEMBL1082607", "DRUGBANK:DB00938", "DrugCentral:2419", "GTOPDB:559", "PHAROS:X3GGJ7GNYWXG", "PUBCHEM.COMPOUND:5152,54687251", "UNII:2I4BC502BT"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9014", "medic_mention_id": "MEDICNE:51d5fc91-0e42-579f-8702-8e53b8fd0818", "medic_reliability": "EXCLUDED", "name": "salsalate", "provided_by": ["infores:medic"], "synonym": ["Salsalate"], "xref": ["DRUGBANK:DB01399"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90217", "medic_application_numbers": ["216993"], "medic_approved_authorities": ["EMA", "FDA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "usa"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "20190618", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b8b90cbf-734f-5ed1-b1ea-2a767b56c0e0", "medic_reliability": "HIGH", "medic_smiles": "CC(C)(C)c1cc(NC(=O)Nc2ccc(-c3cn4c(n3)sc3cc(OCCN5CCOCC5)ccc34)cc2)no1.Cl.Cl", "name": "quizartinib", "provided_by": ["infores:medic"], "synonym": ["QUIZARTINIB DIHYDROCHLORIDE", "QUIZARTINIB HYDROCHLORIDE", "Quizartinib", "quizartinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL576982", "DRUGBANK:DB12874", "DrugCentral:5341", "GTOPDB:5658", "PHAROS:9PMFT71R1QVA", "PUBCHEM.COMPOUND:24889392", "UNII:7LA4O6Q0D3"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90227", "medic_application_numbers": ["213756|219943"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01EE04"], "medic_earliest_approval_date": "20200410", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9dd2e7fb-17fd-559f-9650-aedeeedcecf9", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007563"], "medic_reliability": "HIGH", "medic_smiles": "Cn1cnc2c(F)c(Nc3ccc(Br)cc3Cl)c(C(=O)NOCCO)cc21", "name": "selumetinib", "provided_by": ["infores:medic"], "synonym": ["SELUMETINIB SULFATE", "Selumetinib", "Selumetinib 10mg & 25mg capsule", "selumetinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1614701", "DRUGBANK:DB11689", "DrugCentral:5388", "PHAROS:T5L9Y2W2CV11", "PUBCHEM.COMPOUND:10127622", "UNII:6UH91I579U"]}
{"category": ["biolink:Drug"], "id": "CHEBI:90241", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_atc_codes": ["L01CA05"], "medic_earliest_approval_date": "20090921", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_mention_id": "MEDICNE:a9740e4d-5673-5410-90db-ef7869997111", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001721"], "medic_reliability": "HIGH", "medic_smiles": "CC[C@]12C=CCN3CC[C@@]4(c5cc([C@@]6(C(=O)OC)C[C@@H]7C[C@@H](C(C)(F)F)CN(Cc8c6[nH]c6ccccc86)C7)c(OC)cc5N(C)[C@H]4[C@@](O)(C(=O)OC)[C@@H]1OC(C)=O)[C@@H]32", "name": "vinflunine", "provided_by": ["infores:medic"], "synonym": ["Vinflunine", "vinflunine"], "xref": ["CHEMBL.COMPOUND:CHEMBL2110725", "DrugCentral:3644", "PHAROS:9NA8JS4CD4NA", "PUBCHEM.COMPOUND:10629256", "UNII:5BF646324K"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9073", "medic_application_numbers": ["007392|083262|083281|084225|084422|084561|084676|084762|084926|085285|085477|085792|085798|085867|085869|085895|085898|085903|085909|086101|086273|086390|086530"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:93ae34ca-e80a-5b34-9bda-21a0f583215f", "medic_reliability": "HIGH", "name": "secobarbital", "provided_by": ["infores:medic"], "synonym": ["SECOBARBITAL SODIUM"], "xref": ["CHEMBL.COMPOUND:CHEMBL447", "DrugCentral:2428", "PHAROS:UJK8MUX94B6V", "PUBCHEM.COMPOUND:5193", "UNII:1P7H87IN75"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90841", "medic_application_numbers": ["204958|213551"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "india", "usa"], "medic_atc_codes": ["B01AC25"], "medic_earliest_approval_date": "20150323", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ef2330aa-01a9-5e09-93f5-ee87c8298428", "medic_reliability": "HIGH", "medic_smiles": "CSCCNc1nc(SCCC(F)(F)F)nc2c1ncn2[C@@H]1O[C@H](COP(=O)(O)OP(=O)(O)C(Cl)(Cl)P(=O)(O)O)[C@@H](O)[C@H]1O", "name": "cangrelor", "provided_by": ["infores:medic"], "synonym": ["CANGRELOR", "Cangrelor", "Cangrelor tetra sodium bulk and Cangrelor for injection 50mg/vial", "cangrelor"], "xref": ["CHEMBL.COMPOUND:CHEMBL334966,CHEMBL1097279", "DRUGBANK:DB06441", "DrugCentral:5006", "GTOPDB:1776", "PHAROS:2PP7NP1N8QA6", "PUBCHEM.COMPOUND:9854012,11954340", "UNII:6AQ1Y404U7"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90844", "medic_application_numbers": ["207947|214275|214302|214414"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["B01AC27"], "medic_earliest_approval_date": "20151221", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6c47acf8-5c8b-5cbd-96fb-65d5f67eeeeb", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005577"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)N(CCCCOCC(=O)NS(C)(=O)=O)c1cnc(-c2ccccc2)c(-c2ccccc2)n1", "name": "selexipag", "provided_by": ["infores:medic"], "synonym": ["SELEXIPAG", "Selexipag", "Selexipag bulk and Selexipag tablets…200mcg/ 400mcg/ 600mcg/ 800mcg/ 1000mcg/ 1200mcg/ 1400mcg/ 1600mcg", "selexipag"], "xref": ["CHEMBL.COMPOUND:CHEMBL238804", "DRUGBANK:DB11362", "DrugCentral:5077", "GTOPDB:7552", "PHAROS:UQXJU3FH7KDL", "PUBCHEM.COMPOUND:9913767", "UNII:5EXC0E384L"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90851", "medic_application_numbers": ["206192"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["L01EE02"], "medic_earliest_approval_date": "20151110", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b2ca683a-23ff-5a6b-8bf4-1523387acc40", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003464"], "medic_reliability": "HIGH", "medic_smiles": "O=C(c1ccc(F)c(F)c1Nc1ccc(I)cc1F)N1CC(O)([C@@H]2CCCCN2)C1", "name": "cobimetinib", "provided_by": ["infores:medic"], "synonym": ["COBIMETINIB FUMARATE", "Cobimetinib", "cobimetinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2146883", "DRUGBANK:DB05239", "DrugCentral:5046", "GTOPDB:7626", "PHAROS:8UDBJA4F9RNN", "PUBCHEM.COMPOUND:16222096", "UNII:ER29L26N1X"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9086", "medic_mention_id": "MEDICNE:e2c81c76-2a5c-5683-b0a8-13c8319d9272", "medic_reliability": "EXCLUDED", "medic_smiles": "C#CCN(C)[C@H](C)Cc1ccccc1.Cl", "name": "(-)-selegiline", "provided_by": ["infores:medic"], "synonym": ["Selegiline"], "xref": ["CHEMBL.COMPOUND:CHEMBL972,CHEMBL1200904", "DRUGBANK:DB01037", "DrugCentral:2429", "GTOPDB:6639", "PHAROS:4ZNCJ37XW31H", "PUBCHEM.COMPOUND:26757,26758", "UNII:2K1V7GP655"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90863", "medic_application_numbers": ["205266"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia", "usa"], "medic_atc_codes": ["L01XJ02"], "medic_earliest_approval_date": "20150724", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5283f5f0-0bd1-57b7-a887-992c0642e857", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006795)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "Cc1c(C(=O)Nc2ccc(N3C[C@@H](C)O[C@@H](C)C3)nc2)cccc1-c1ccc(OC(F)(F)F)cc1", "name": "sonidegib", "provided_by": ["infores:medic"], "synonym": ["SONIDEGIB PHOSPHATE", "Sonidegib", "sonidegib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105737", "DRUGBANK:DB09143", "DrugCentral:5008", "GTOPDB:8199", "PHAROS:S7JYLCUHDM46", "PUBCHEM.COMPOUND:24775005", "UNII:0RLU3VTK5M"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90865", "medic_application_numbers": ["022526"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["G02CX02"], "medic_earliest_approval_date": "20150818", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:34b4671e-d7cb-5754-bccb-23848a659ad9", "medic_reliability": "HIGH", "medic_smiles": "O=c1[nH]c2ccccc2n1CCN1CCN(c2cccc(C(F)(F)F)c2)CC1", "name": "flibanserin", "provided_by": ["infores:medic"], "synonym": ["FLIBANSERIN", "Flibanserin"], "xref": ["CHEMBL.COMPOUND:CHEMBL231068", "DRUGBANK:DB04908", "DrugCentral:5022", "GTOPDB:8182", "PHAROS:GR23QZKJ5F95", "PUBCHEM.COMPOUND:6918248", "UNII:37JK4STR6Z"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9087", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19950322", "medic_mention_id": "MEDICNE:4502c9b0-5ab7-586d-8aae-28c4279f4635", "medic_reliability": "MEDIUM", "name": "selegiline hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Selegiline Hydrochloride Tablets", "盐酸司来吉兰片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90879", "medic_application_numbers": ["207981|214008|214024"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20140324", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a90320e1-e75a-5d2a-bb81-6e9068995c01", "medic_reliability": "HIGH", "name": "tipiracil", "provided_by": ["infores:medic"], "synonym": ["TIPIRACIL HYDROCHLORIDE", "TIPIRACIL HYDROCHLORIDE; TRIFLURIDINE"], "xref": ["CHEMBL.COMPOUND:CHEMBL235668,CHEMBL65375", "DrugCentral:4893", "PHAROS:JRPJ7XXGDTSX", "PUBCHEM.COMPOUND:6323266,9903778", "UNII:NGO10K751P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90908", "medic_application_numbers": ["206500|208399"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20150901", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b074accb-be2b-574a-84c7-9d763d3ec3e0", "medic_reliability": "HIGH", "name": "rolapitant", "provided_by": ["infores:medic"], "synonym": ["ROLAPITANT HYDROCHLORIDE", "Rolapitant"], "xref": ["CHEMBL.COMPOUND:CHEMBL3707331", "DRUGBANK:DB09291", "DrugCentral:5027", "GTOPDB:5749", "PHAROS:GTVGUCU2W738", "PUBCHEM.COMPOUND:10311306", "UNII:NLE429IZUC"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90914", "medic_application_numbers": ["208159|208169"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A16AX13"], "medic_earliest_approval_date": "20150904", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c5024b94-6a66-59ab-aa6a-6c81379730ea", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OC[C@H]1O[C@@H](n2ccc(=O)[nH]c2=O)[C@H](OC(C)=O)[C@@H]1OC(C)=O", "name": "uridine triacetate", "provided_by": ["infores:medic"], "synonym": ["URIDINE TRIACETATE", "Uridine triacetate"], "xref": ["DRUGBANK:DB09144"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90926", "medic_application_numbers": ["208215|213926|214053"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["J05AF13"], "medic_earliest_approval_date": "20160404", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:94032a5c-9434-5244-a515-9c1d7ae0c1d1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005643"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)OC(=O)[C@H](C)N[P@](=O)(CO[C@H](C)Cn1cnc2c(N)ncnc21)Oc1ccccc1", "name": "tenofovir alafenamide", "provided_by": ["infores:medic"], "synonym": ["EMTRICITABINE; TENOFOVIR ALAFENAMIDE FUMARATE", "TENOFOVIR ALAFENAMIDE", "TENOFOVIR ALAFENAMIDE FUMARATE", "Tenofovir Alafenamide", "Tenofovir alafenamide", "tenofovir alafenamide"], "xref": ["DRUGBANK:DB09299"]}
{"category": ["biolink:Drug"], "id": "CHEBI:90929", "medic_application_numbers": ["207988"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["M04AB05"], "medic_earliest_approval_date": "20151222", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:57cd2fae-cb65-5b4e-ab93-c487401d512c", "medic_reliability": "HIGH", "medic_smiles": "O=C(O)CSc1nnc(Br)n1-c1ccc(C2CC2)c2ccccc12", "name": "lesinurad", "provided_by": ["infores:medic"], "synonym": ["LESINURAD"], "xref": ["CHEMBL.COMPOUND:CHEMBL2105720", "DrugCentral:5075", "PHAROS:KUT3SVC6AMQ7", "PUBCHEM.COMPOUND:53465279", "UNII:09ERP08I3W"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90930", "medic_application_numbers": ["207533|209830"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20151005", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1ebaa63b-968e-5394-8051-e509a4530c51", "medic_reliability": "HIGH", "medic_smiles": "CCCCCCCCCCCC(=O)OCN1C(=O)CCc2ccc(OCCCCN3CCN(c4cccc(Cl)c4Cl)CC3)cc21", "name": "aripiprazole lauroxil", "provided_by": ["infores:medic"], "synonym": ["ARIPIPRAZOLE LAUROXIL"], "xref": ["CHEMBL.COMPOUND:CHEMBL2219425", "DrugCentral:5052", "PHAROS:3FT39PUS83SK", "PUBCHEM.COMPOUND:49831411", "UNII:B786J7A343"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90933", "medic_application_numbers": ["204370|213932|213982|213984"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["N05AX15"], "medic_earliest_approval_date": "20150917", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:00fe5737-c8a2-5719-a838-51026ed54cfa", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005405"], "medic_reliability": "HIGH", "medic_smiles": "CN(C)C(=O)N[C@H]1CC[C@H](CCN2CCN(c3cccc(Cl)c3Cl)CC2)CC1", "name": "cariprazine", "provided_by": ["infores:medic"], "synonym": ["CARIPRAZINE HYDROCHLORIDE", "Cariprazine", "Cariprazine hydrochloride bulk and Cariprazine capsules 1.5mg/3mg/4.5mg and 6mg", "cariprazine"], "xref": ["CHEMBL.COMPOUND:CHEMBL2028019,CHEMBL2024517", "DRUGBANK:DB06016", "DrugCentral:5037", "GTOPDB:7671", "PHAROS:P9ZB9T1NVV9U", "PUBCHEM.COMPOUND:11154555", "UNII:F6RJL8B278"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90936", "medic_application_numbers": ["208434"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["L01ED03"], "medic_earliest_approval_date": "20140704", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:be05fbec-0eb9-5bb0-bb92-6b914e3ba132", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005109"], "medic_reliability": "HIGH", "medic_smiles": "CCc1cc2c(cc1N1CCC(N3CCOCC3)CC1)C(C)(C)c1[nH]c3cc(C#N)ccc3c1C2=O", "name": "alectinib", "provided_by": ["infores:medic"], "synonym": ["ALECTINIB HYDROCHLORIDE", "Alectinib", "Alectinib 150mg Capsules", "alectinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL1738797", "DRUGBANK:DB11363", "DrugCentral:4937", "GTOPDB:7739", "PHAROS:CBZSLNV1JKXP", "PUBCHEM.COMPOUND:49806720", "UNII:LIJ4CT1Z3Y"]}
{"category": ["biolink:Drug"], "id": "CHEBI:90939", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20180412", "medic_mention_id": "MEDICNE:9745a349-c635-5b7c-bb14-67fa482c95f9", "medic_reliability": "MEDIUM", "name": "ixazomib citrate", "provided_by": ["infores:medic"], "synonym": ["Ixazomib Citrate Capsules", "枸橼酸伊沙佐米胶囊"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90942", "medic_application_numbers": ["208462"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01XG03"], "medic_earliest_approval_date": "20151120", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7cfb848f-2363-5216-b8ae-8a1250414ff1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004500"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)C[C@H](NC(=O)CNC(=O)c1cc(Cl)ccc1Cl)B(O)O", "name": "ixazomib", "provided_by": ["infores:medic"], "synonym": ["IXAZOMIB CITRATE", "Ixazomib", "ixazomib"], "xref": ["CHEMBL.COMPOUND:CHEMBL2141296", "DRUGBANK:DB09570", "DrugCentral:5067", "GTOPDB:8450", "PHAROS:S5QJM63MCSGP", "PUBCHEM.COMPOUND:25183872", "UNII:71050168A2"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:90943", "medic_application_numbers": ["208065"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "india", "russia", "usa"], "medic_atc_codes": ["L01EB04"], "medic_earliest_approval_date": "20151113", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7c2bd659-794e-5002-9a27-813beb662f9d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004492"], "medic_reliability": "HIGH", "medic_smiles": "C=CC(=O)Nc1cc(Nc2nccc(-c3cn(C)c4ccccc34)n2)c(OC)cc1N(C)CCN(C)C", "name": "osimertinib", "provided_by": ["infores:medic"], "synonym": ["OSIMERTINIB MESYLATE", "Osimertinib", "Osimertinib 40 mg/80 mg", "osimertinib"], "xref": ["CHEMBL.COMPOUND:CHEMBL3353410", "DRUGBANK:DB09330", "DrugCentral:5062", "GTOPDB:7719", "PHAROS:5WWKT2A98AXL", "PUBCHEM.COMPOUND:71496458", "UNII:3C06JJ0Z2O"]}
{"category": ["biolink:Drug"], "id": "CHEBI:90948", "medic_approved_authorities": ["NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan"], "medic_earliest_approval_date": "20160328", "medic_mention_id": "MEDICNE:15eff100-dd98-5e79-8689-1eead83d4a4d", "medic_reliability": "MEDIUM", "medic_smiles": "C=CC(=O)Nc1cc(Nc2nccc(-c3cn(C)c4ccccc34)n2)c(OC)cc1N(C)CCN(C)C.CS(=O)(=O)O", "name": "osimertinib mesylate", "provided_by": ["infores:medic"], "synonym": ["OSIMERTINIB MESILATE", "Osimertinib Mesylate Tablets", "甲磺酸奥希替尼片"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9142", "medic_application_numbers": ["017381|018578|018810|019608"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["D06BA01", "D06BA51"], "medic_earliest_approval_date": "19710101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fab015f9-e642-5efe-94e2-02543b27321f", "medic_reliability": "MEDIUM", "medic_smiles": "Nc1ccc(S(=O)(=O)[N-]c2ncccn2)cc1.[Ag+]", "name": "silver(1+) sulfadiazinate", "provided_by": ["infores:medic"], "synonym": ["SILVER SULFADIAZINE", "Silver Sulphadiazine 1%w/w Cream"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9144", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080403", "medic_mention_id": "MEDICNE:3dc9f303-5440-5ea2-9136-4b95e4449c05", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000954"], "medic_reliability": "MEDIUM", "medic_smiles": "COc1cc([C@H]2Oc3cc([C@H]4Oc5cc(O)cc(O)c5C(=O)[C@@H]4O)ccc3O[C@@H]2CO)ccc1O", "name": "silibinin", "provided_by": ["infores:medic"], "synonym": ["Silibinin", "Силибинин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9150", "medic_application_numbers": ["019766|021961|076052|076285|076685|077691|077752|077766|077837|078034|078103|078155|078735|090383|090868|200895|206557|206679|211394"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["C10AA01"], "medic_earliest_approval_date": "19911223", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a16fb532-e699-5f29-bd6d-8b47225a6b8e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000667"], "medic_reliability": "HIGH", "medic_smiles": "CCC(C)(C)C(=O)O[C@H]1C[C@@H](C)C=C2C=C[C@H](C)[C@H](CC[C@@H]3C[C@@H](O)CC(=O)O3)[C@H]21", "name": "simvastatin", "provided_by": ["infores:medic"], "synonym": ["SIMVASTATIN", "SIMVASTATIN; SITAGLIPTIN PHOSPHATE", "Simvastatin", "Simvastatin 5mg/10mg/20mg/40mg Tablet", "Simvastatin Tablets"], "xref": ["CHEMBL.COMPOUND:CHEMBL1064", "DRUGBANK:DB00641", "DrugCentral:2445", "GTOPDB:2955", "PHAROS:NZ548L771W7J", "PUBCHEM.COMPOUND:54454", "UNII:AGG2FN16EV"]}
{"category": ["biolink:Drug"], "id": "CHEBI:91514", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A03AA04"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:50091ee2-1867-52ee-9054-ee60049a7c40", "medic_reliability": "MEDIUM", "medic_smiles": "CCN(CCCCOC(=O)c1ccc(OC)c(OC)c1)C(C)Cc1ccc(OC)cc1", "name": "3,4-dimethoxybenzoic acid 4-[ethyl-[1-(4-methoxyphenyl)propan-2-yl]amino]butyl ester", "provided_by": ["infores:medic"], "synonym": ["Mebeverine HCl prolonged release capsule (200mg).", "Mebeverine Hcl 100mg Tablet", "Mebeverine Hcl 50mg Tablet"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9168", "medic_application_numbers": ["021083|021110|201578|201676|208691|211040|211212|211406|213312|213478|214753|215016|215080|215116|216728"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "japan", "russia", "usa"], "medic_atc_codes": ["L01EG04", "L04AH01", "S01XA23"], "medic_earliest_approval_date": "19990915", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f5fae185-fbf8-50bd-b97e-4b0ce8704c2c", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(012960)-(РГ-RU)"], "medic_reliability": "HIGH", "medic_smiles": "CO[C@H]1C[C@@H]2CC[C@@H](C)[C@@](O)(O2)C(=O)C(=O)N2CCCC[C@H]2C(=O)O[C@H]([C@H](C)C[C@@H]2CC[C@@H](O)[C@H](OC)C2)CC(=O)[C@H](C)/C=C(\\C)[C@@H](O)[C@@H](OC)C(=O)[C@H](C)C[C@H](C)/C=C/C=C/C=C/1C", "name": "sirolimus", "provided_by": ["infores:medic"], "synonym": ["SIROLIMUS", "Sirolimus", "Sirolimus Tablets", "sirolimus"], "xref": ["CHEMBL.COMPOUND:CHEMBL413", "DRUGBANK:DB00877", "DrugCentral:2446", "GTOPDB:6031", "PHAROS:KG4MHLNXP966", "PUBCHEM.COMPOUND:5284616", "UNII:W36ZG6FT64"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9169", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:978b714e-b5b7-5864-9c60-dcd68cd35e20", "medic_reliability": "HIGH", "name": "sisomycin", "provided_by": ["infores:medic"], "synonym": ["Sisomicin Sulfate"]}
{"category": ["biolink:Drug"], "id": "CHEBI:91749", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090605", "medic_mention_id": "MEDICNE:a03d0c4f-ab7e-5c9f-8d5f-6946433eef3d", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-004897/09"], "medic_reliability": "MEDIUM", "name": "tianeptine", "provided_by": ["infores:medic"], "synonym": ["Tianeptine", "Тианептин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9180", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:39d91c73-d1f5-5a9f-a2ef-d6476e6dd571", "medic_registration_numbers": ["MOH_RUSSIA:64/228/170"], "medic_reliability": "MEDIUM", "name": "Sodium salicylate", "provided_by": ["infores:medic"], "synonym": ["Sodium salicylate", "Натрия салицилат"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9207", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220916", "medic_mention_id": "MEDICNE:bb73020b-f60f-54ed-b91d-f8592fe5f9a6", "medic_reliability": "MEDIUM", "name": "sotalol hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Sotalol Hydrochloride Tablets", "盐酸索他洛尔片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9212", "medic_application_numbers": ["020677"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_earliest_approval_date": "19961111", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:dc2c7775-a15a-56aa-b3ee-1785753204bf", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004411"], "medic_reliability": "HIGH", "name": "sparfloxacin", "provided_by": ["infores:medic"], "synonym": ["SPARFLOXACIN", "Sparfloxacin", "Sparfloxacin 100mg/200mg/400mg Tablet"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9215", "medic_application_numbers": ["050347"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia", "usa"], "medic_atc_codes": ["J01XX04"], "medic_earliest_approval_date": "19810101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:eec566db-5f46-5d2f-87af-f6b20f00489a", "medic_registration_numbers": ["MOH_RUSSIA:П N012833/01"], "medic_reliability": "HIGH", "medic_smiles": "CN[C@@H]1[C@H](O)[C@H](NC)[C@H]2O[C@@]3(O)C(=O)C[C@@H](C)O[C@H]3O[C@@H]2[C@H]1O", "name": "spectinomycin", "provided_by": ["infores:medic"], "synonym": ["SPECTINOMYCIN HYDROCHLORIDE", "Spectinomycin", "Spectinomycin Hydrochloride"]}
{"category": ["biolink:Drug"], "id": "CHEBI:92293", "medic_application_numbers": ["013615"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:d108ef7d-1b6a-545c-bfbf-eaeeca0840fc", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)c1ccc2c(c1)N(CCCN1CCC(CCO)CC1)c1ccccc1S2", "name": "1-[10-[3-[4-(2-hydroxyethyl)-1-piperidinyl]propyl]-2-phenothiazinyl]ethanone", "provided_by": ["infores:medic"], "synonym": ["PIPERACETAZINE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9249", "medic_application_numbers": ["012885"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_atc_codes": ["A14AA02"], "medic_earliest_approval_date": "19610101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fbdb9c6f-8e80-5417-8414-f0562c65b6eb", "medic_reliability": "HIGH", "medic_smiles": "C[C@]12Cc3c[nH]nc3C[C@@H]1CC[C@@H]1[C@@H]2CC[C@@]2(C)[C@H]1CC[C@]2(C)O", "name": "stanozolol", "provided_by": ["infores:medic"], "synonym": ["STANOZOLOL", "Stanazolol", "Stanozolol 2mg Tablet", "Stanozolol 50mg/ml Injection"], "xref": ["CHEMBL.COMPOUND:CHEMBL2079587", "DrugCentral:2477", "PHAROS:TCP3J6JMNPCA", "PUBCHEM.COMPOUND:25249", "UNII:4R1VB9P8V3"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9288", "medic_application_numbers": ["050577"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_atc_codes": ["L01AD04"], "medic_earliest_approval_date": "19820507", "medic_features": ["CHEMOTHERAPY", "CANCER_DRUG"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:7f9f5728-c310-5b97-97be-2d288db201dd", "medic_reliability": "HIGH", "name": "streptozocin", "provided_by": ["infores:medic"], "synonym": ["STREPTOZOCIN", "Streptozocin"], "xref": ["DRUGBANK:DB00428"]}
{"category": ["biolink:Drug"], "id": "CHEBI:92927", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:8d859d8f-b4bc-50aa-8784-945328b56825", "medic_reliability": "HIGH", "medic_smiles": "COc1cc(C(=O)N2CCOCC2)cc(OC)c1OC", "name": "4-morpholinyl-(3,4,5-trimethoxyphenyl)methanone", "provided_by": ["infores:medic"], "synonym": ["Trimethoxazine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:93095", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_atc_codes": ["C08EX01"], "medic_earliest_approval_date": "19710101", "medic_features": ["CARDIOVASCULAR"], "medic_mention_id": "MEDICNE:ceb7850b-1717-58c4-b1dc-72296e1f7260", "medic_reliability": "MEDIUM", "medic_smiles": "Cc1cccc(C)c1NC(=O)CN1CCN(CCCC(c2ccc(F)cc2)c2ccc(F)cc2)CC1", "name": "2-[4-[4,4-bis(4-fluorophenyl)butyl]-1-piperazinyl]-N-(2,6-dimethylphenyl)acetamide", "provided_by": ["infores:medic"], "synonym": ["Lidoflazine 60mg Tablet"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9317", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20201208", "medic_mention_id": "MEDICNE:d9bca4b7-7bd6-514b-9a5b-e8628ae85c64", "medic_reliability": "MEDIUM", "name": "Sufentanil citrate", "provided_by": ["infores:medic"], "synonym": ["Sufentanil Citrate Injection", "枸橼酸舒芬太尼注射液"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9321", "medic_approved_authorities": ["MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia"], "medic_atc_codes": ["A01AD05", "B01AC06", "N02BA01"], "medic_earliest_approval_date": "19940429", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:84ed3958-cd59-58ef-a12a-6c6160c83d14", "medic_registration_numbers": ["MOH_RUSSIA:94/81/6"], "medic_reliability": "HIGH", "medic_smiles": "CC1(C)[C@H](C(=O)[O-])N2C(=O)C[C@H]2S1(=O)=O.[Na+]", "name": "sulbactam", "provided_by": ["infores:medic"], "synonym": ["Cefoperazone + Sulbactam", "SULBACTAM SODIUM", "Sulbactam"], "xref": ["DRUGBANK:DB09324", "UNII:S4TF6I2330"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9325", "medic_application_numbers": ["018737|018738"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19850830", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ad787140-a735-5231-a97c-7d1e8ac5e6dc", "medic_reliability": "HIGH", "name": "sulconazole", "provided_by": ["infores:medic"], "synonym": ["SULCONAZOLE NITRATE", "Sulconazole"], "xref": ["CHEMBL.COMPOUND:CHEMBL1221,CHEMBL1200348", "DRUGBANK:DB06820", "PHAROS:P5LLT4F3P3PG", "PUBCHEM.COMPOUND:5318,65495", "UNII:5D9HAA5Q5S"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9328", "medic_application_numbers": ["004054"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "russia", "usa"], "medic_atc_codes": ["D06BA01", "D06BA51"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5ce59e4f-30a4-5341-a73d-065cff95e81f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001040"], "medic_reliability": "HIGH", "medic_smiles": "Nc1ccc(S(=O)(=O)[N-]c2ncccn2)cc1.[Ag+]", "name": "sulfadiazine", "provided_by": ["infores:medic"], "synonym": ["SULFADIAZINE", "SULFADIAZINE SODIUM", "SULFADIAZINE; SULFAMERAZINE", "Sulfadiazine", "Sulfadiazine Tablets"], "xref": ["DRUGBANK:DB00359", "UNII:0N7609K889"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9329", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:46ea237e-63e3-5b50-bd44-bf7861c81630", "medic_reliability": "HIGH", "name": "sulfadoxine", "provided_by": ["infores:medic"], "synonym": ["Sulphadoxine"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9331", "medic_application_numbers": ["008565|080273|086012"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["B05CA04", "D06BA04", "J01EB02", "S01AB01"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:04a3e36d-7df0-596c-847b-098920b27254", "medic_reliability": "HIGH", "medic_smiles": "Cc1nnc(NS(=O)(=O)c2ccc(N)cc2)s1", "name": "sulfamethizole", "provided_by": ["infores:medic"], "synonym": ["SULFAMETHIZOLE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9332", "medic_application_numbers": ["012715|013664|085053|085844|086000|086163|087189|087307|087662"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_atc_codes": ["J01EC01"], "medic_earliest_approval_date": "19820101", "medic_features": ["ANTIMICROBIAL"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:6b380dfc-445c-5f70-9b59-2c37efc51b4a", "medic_registration_numbers": ["MOH_RUSSIA:П N015246/01"], "medic_reliability": "HIGH", "medic_smiles": "Cc1cc(NS(=O)(=O)c2ccc(N)cc2)no1", "name": "sulfamethoxazole", "provided_by": ["infores:medic"], "synonym": ["SULFAMETHOXAZOLE", "Sulfamethoxazole", "Sulfamethoxazole + Trimethoprim"], "xref": ["DRUGBANK:DB01015", "UNII:JE42381TNV"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9334", "medic_application_numbers": ["007073|018605|040349|075339|080197|083450|084964|085828|086184|087197|088052|089339|089590|219046"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["A07EC01"], "medic_earliest_approval_date": "19820101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d4b5dfe8-d40b-5e3f-b41c-878a618cb251", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003765"], "medic_reliability": "HIGH", "medic_smiles": "O=C(O)c1cc(/N=N/c2ccc(S(=O)(=O)Nc3ccccn3)cc2)ccc1O", "name": "sulfasalazine", "provided_by": ["infores:medic"], "synonym": ["SULFASALAZINE", "Sulfasalazine"], "xref": ["CHEMBL.COMPOUND:CHEMBL421", "DRUGBANK:DB00795", "DrugCentral:2525", "GTOPDB:4840", "PHAROS:C2DRLL67G78H", "PUBCHEM.COMPOUND:5384001", "UNII:3XC8GUZ6CB"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9336", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:d6bb8069-f369-510f-9d34-920cbbd5e083", "medic_registration_numbers": ["MOH_RUSSIA:64/228/284"], "medic_reliability": "MEDIUM", "name": "phthalylsulfathiazole", "provided_by": ["infores:medic"], "synonym": ["Phthalylsulfathiazole", "Фталилсульфатиазол"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9337", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19640430", "medic_mention_id": "MEDICNE:28582a64-62f2-5882-b6e4-e3aebc0093ca", "medic_registration_numbers": ["MOH_RUSSIA:64/228/179"], "medic_reliability": "MEDIUM", "name": "sulfathiazole", "provided_by": ["infores:medic"], "synonym": ["Sulfathiazole", "Сульфатиазол"]}
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{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "CHEBI:9448", "medic_application_numbers": ["020192|020539|020749|020980|021124|022071|076377|076390|077065|077136|077137|077195|077223|077511|077533|077714|077919|078157|078163|078199|078229|078297"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19921230", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:a795c2f4-f780-530b-b2b0-90a6850d12ac", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000045"], "medic_reliability": "HIGH", "medic_smiles": "CN(C/C=C/C#CC(C)(C)C)Cc1cccc2ccccc12.Cl", "name": "terbinafine", "provided_by": ["infores:medic"], "synonym": ["TERBINAFINE", "TERBINAFINE HYDROCHLORIDE", "Terbinafine", "Terbinafine + Econazole", "Terbinafine + [Urea]"], "xref": ["CHEMBL.COMPOUND:CHEMBL822", "DRUGBANK:DB00857", "DrugCentral:2597", "PHAROS:31CWQ1ANWQ83", "PUBCHEM.COMPOUND:1549008", "UNII:G7RIW8S0XP"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9450", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:5013378c-f9fd-5218-9690-e8b9ab9086e7", "medic_reliability": "MEDIUM", "name": "terbutaline sulfate", "provided_by": ["infores:medic"], "synonym": ["Terbutaline Sulfate Injection", "Terbutaline Sulfate Tablets", "Terbutaline Sulphate 0.3mg/ml Syrup", "Terbutaline Sulphate 0.5mg/ml Injection", "Terbutaline Sulphate 2.5mg/5mg Tablet", "硫酸特布他林片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:94666", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071227", "medic_mention_id": "MEDICNE:5d4bcc9d-d171-5132-b48d-91bfddd71f6d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(000685)-(РГ-RU)"], "medic_reliability": "LOW", "name": "N-[2-(diethylamino)ethyl]-2-methoxy-5-methylsulfonylbenzamide", "provided_by": ["infores:medic"], "synonym": ["Tiaprid", "Тиаприд"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9469", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071017", "medic_mention_id": "MEDICNE:4b5903bb-3e14-58ac-8f85-f8e94bf1971b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003065"], "medic_reliability": "LOW", "name": "Tetracaine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Pantocrine", "Пантокрин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:94700", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20100723", "medic_mention_id": "MEDICNE:3008b5c6-dd58-5469-85d6-480e929b98fc", "medic_reliability": "HIGH", "name": "LSM-5745", "provided_by": ["infores:medic"], "synonym": ["PAZUFLOXACIN MESILATE"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:94708", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_atc_codes": ["M01AX21"], "medic_earliest_approval_date": "20080714", "medic_mention_id": "MEDICNE:3309a400-60f7-5fd9-be55-65b248d331c2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000788"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)Oc1cccc2c1C(=O)c1c(OC(C)=O)cc(C(=O)O)cc1C2=O", "name": "4,5-diacetyloxy-9,10-dioxo-2-anthracenecarboxylic acid", "provided_by": ["infores:medic"], "synonym": ["Diacerein", "Diacerein Modified Release Capsule 100mg", "Диацереин"], "xref": ["CHEMBL.COMPOUND:CHEMBL41286", "DrugCentral:849", "PHAROS:MMWKN7ZDZZ3C", "PUBCHEM.COMPOUND:26248", "UNII:4HU6J11EL5"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9649", "medic_application_numbers": ["020591|079135"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_atc_codes": ["C09AA10"], "medic_earliest_approval_date": "19960426", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:53479bc5-b9bf-5047-80c1-a75666be540a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001791"], "medic_reliability": "HIGH", "medic_smiles": "CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1[C@H](C(=O)O)C[C@H]2CCCC[C@@H]21", "name": "trandolapril", "provided_by": ["infores:medic"], "synonym": ["TRANDOLAPRIL", "TRANDOLAPRIL; VERAPAMIL HYDROCHLORIDE", "Trandolapril", "Verapamil + Trandolapril"], "xref": ["CHEMBL.COMPOUND:CHEMBL1519", "DRUGBANK:DB00519", "DrugCentral:2712", "GTOPDB:6453", "PHAROS:FBX1D71CTJT9", "PUBCHEM.COMPOUND:5484727", "UNII:1T0N3G9CRC", "UNII:RR6866VL0O"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9655", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250603", "medic_mention_id": "MEDICNE:beea2244-57e2-5e37-84f7-8a9ab04ee36b", "medic_reliability": "MEDIUM", "name": "trazodone hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Trazodone Hydrochloride Extended-Release Tablets", "Trazodone Hydrochloride Tablets", "盐酸曲唑酮片"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9667", "medic_application_numbers": ["011685|011960|012515|012802|084072|085122|085529|086394"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:13685db8-b04b-5271-803f-5a77fc4032f4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008168"], "medic_reliability": "HIGH", "medic_smiles": "CC(=O)OCC(=O)[C@@]1(O)[C@H](OC(C)=O)C[C@H]2[C@@H]3CCC4=CC(=O)C=C[C@]4(C)[C@@]3(F)[C@@H](O)C[C@@]21C", "name": "triamcinolone", "provided_by": ["infores:medic"], "synonym": ["TRIAMCINOLONE", "TRIAMCINOLONE DIACETATE", "Tetracycline + Triamcinolone", "Triamcinolone"], "xref": ["CHEMBL.COMPOUND:CHEMBL1451", "DRUGBANK:DB00620", "DrugCentral:2725", "GTOPDB:2870", "PHAROS:MMZVS1LLWYGT", "PUBCHEM.COMPOUND:31307", "UNII:1ZK20VI6TY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9670", "medic_application_numbers": ["016466"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4b1a59c5-57b4-50c0-9a4a-33ffec15697f", "medic_reliability": "HIGH", "name": "Triamcinolone hexacetonide", "provided_by": ["infores:medic"], "synonym": ["TRIAMCINOLONE HEXACETONIDE", "Triamcinolone Hexacetonide injectable suspension 20mg/ml"], "xref": ["CHEMBL.COMPOUND:CHEMBL1200878", "DrugCentral:4976", "PHAROS:3UVHZF99D9YF", "PUBCHEM.COMPOUND:21826"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9710", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:0e651afe-a680-5682-b7b2-0096517fbfe4", "medic_reliability": "MEDIUM", "name": "trifluoperazine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Trifluoperazine Dihydrochloride Capsule"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9741", "medic_application_numbers": ["005914"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["D04AA04", "R06AC04"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:17130f81-5cb1-57ec-8c01-0452d415cbb1", "medic_reliability": "HIGH", "medic_smiles": "CN(C)CCN(Cc1ccccc1)c1ccccn1.Cl", "name": "Tripelennamine", "provided_by": ["infores:medic"], "synonym": ["TRIPELENNAMINE CITRATE", "TRIPELENNAMINE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1241", "DrugCentral:2762", "GTOPDB:7318", "PHAROS:YG5JXS4DGCJ9", "PUBCHEM.COMPOUND:5587", "UNII:3C5ORO99TY"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9753", "medic_application_numbers": ["020719|020720"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_atc_codes": ["A10BG01"], "medic_earliest_approval_date": "19970129", "medic_features": ["GLUCOSE_REGULATOR"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:fb067c25-eaa3-5cd4-aed8-adf17d7c2870", "medic_reliability": "HIGH", "medic_smiles": "Cc1c(C)c2c(c(C)c1O)CCC(C)(COc1ccc(CC3SC(=O)NC3=O)cc1)O2", "name": "troglitazone", "provided_by": ["infores:medic"], "synonym": ["TROGLITAZONE"], "xref": ["CHEMBL.COMPOUND:CHEMBL408", "DrugCentral:2767", "GTOPDB:2693", "PHAROS:ZZZKMSXJFFQN", "PUBCHEM.COMPOUND:5591", "UNII:1A70L3TM4P"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9763", "medic_application_numbers": ["020759"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19971218", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:e0b52690-bce8-532f-ae8b-3b2c002230e2", "medic_reliability": "HIGH", "name": "trovafloxacin", "provided_by": ["infores:medic"], "synonym": ["TROVAFLOXACIN MESYLATE"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9765", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_atc_codes": ["B06AA07", "D03BA01", "M09AB52"], "medic_earliest_approval_date": "20090526", "medic_mention_id": "MEDICNE:ead6808b-5edd-50e0-82d5-fadf0c4021ff", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006467)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Trypsin", "provided_by": ["infores:medic"], "synonym": ["Trypsin", "Trypsin + Chymotrypsin", "Трипсин+Химотрипсин"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9774", "medic_application_numbers": ["005657|006095|006325"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:ea24230a-bcca-5174-8bc2-fbc12cdf737e", "medic_reliability": "HIGH", "name": "tubocurarine", "provided_by": ["infores:medic"], "synonym": ["TUBOCURARINE CHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL339427", "DrugCentral:2781", "GTOPDB:2294", "PHAROS:H5Q7DR5W7A2Z", "PUBCHEM.COMPOUND:6000", "UNII:W9YXS298BM"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9907", "medic_application_numbers": ["019594|020675|075517|075592|077895|079082|079184|090530|090801|200826|202540|205789|210344|210707|211145|211301|212452|213200|213504|213555|214295|214329|214717|214849"], "medic_approved_authorities": ["CDSCO", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india", "russia", "usa"], "medic_atc_codes": ["A05AA02"], "medic_earliest_approval_date": "19871231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:bbefd76f-b376-5032-95b4-76280fd1eb86", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000723"], "medic_reliability": "HIGH", "medic_smiles": "C[C@H](CCC(=O)O)[C@H]1CC[C@H]2[C@@H]3[C@@H](O)C[C@@H]4C[C@H](O)CC[C@]4(C)[C@H]3CC[C@]12C", "name": "ursodeoxycholic acid", "provided_by": ["infores:medic"], "synonym": ["URSODIOL", "Ursodeoxycholic Acid 300/600 SR Tablets (Additional Strength)", "Ursodeoxycholic Acid Capsules", "Ursodeoxycholic Acid Suspension 125mg/5ml and 250 mg /5ml.", "Ursodeoxycholic Acid Tablets", "Ursodeoxycholic acid", "Ursodeoxycholic acid tablets 600mg"], "xref": ["CHEMBL.COMPOUND:CHEMBL1551", "DRUGBANK:DB01586", "DrugCentral:2797", "PHAROS:T94WWVB33438", "PUBCHEM.COMPOUND:31401", "UNII:724L30Y2QR"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9919", "medic_approved_authorities": ["MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "japan", "russia"], "medic_earliest_approval_date": "19990514", "medic_mention_id": "MEDICNE:fd32ba35-624c-5770-9c47-67c88460920e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000666"], "medic_reliability": "HIGH", "medic_smiles": "CC(C)[C@H](N)C(=O)OCCOCn1cnc2c(=O)nc(N)[nH]c21.Cl", "name": "Valacyclovir hydrochloride", "provided_by": ["infores:medic"], "synonym": ["VALACICLOVIR HYDROCHLORIDE", "Valacyclovir", "Valacyclovir Hydrochloride Tablets", "Валацикловир"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9925", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "india", "japan"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:754963e9-e10b-5284-9cef-8325272c2bc2", "medic_reliability": "HIGH", "name": "sodium valproate", "provided_by": ["infores:medic"], "synonym": ["SODIUM VALPROATE", "Sodium Valporate Tablet/Syrup", "Sodium Valproate", "Sodium Valproate Extended-Release Tablets (I)", "Sodium Valproate Tablets", "Sodium Valproate(Bulk)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9927", "medic_application_numbers": ["020665|021283|077492|077530|090642|090866|091367|201618|201677|202223|202696|202728|203311|203536|204011|204038|204821|205347|205536|209139|209261|214102|216460|218169|218991"], "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA", "PMDA"], "medic_approved_jurisdictions": ["china", "europe", "india", "japan", "russia", "usa"], "medic_atc_codes": ["C09CA03"], "medic_earliest_approval_date": "19961223", "medic_features": ["CARDIOVASCULAR"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:df21fd6c-6e48-5717-b03f-c18ad2d50327", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000843"], "medic_reliability": "HIGH", "medic_smiles": "CCCCC(=O)N(Cc1ccc(-c2ccccc2-c2nnn[nH]2)cc1)[C@H](C(=O)O)C(C)C", "name": "valsartan", "provided_by": ["infores:medic"], "synonym": ["Sacubutril+ Valsartan film coated", "VALSARTAN", "Valsartan", "Valsartan + Hydrochlorothiazide", "Valsartan + Indapamide", "Valsartan + Rosuvastatin", "Valsartan + Sacubitril", "Valsartan Capsules", "Valsartan Tablets", "Valsartan and Amlodipine Tablets (I)", "Valsartan and Amlodipine Tablets (II)", "Valsartan and Hydrochlorothiazide Tablets", "amlodipine besilate;valsartan;hydrochlorothiazide"], "xref": ["CHEMBL.COMPOUND:CHEMBL1069", "DRUGBANK:DB00177", "DrugCentral:2806", "GTOPDB:3937", "PHAROS:YFG7PFZLBM2W", "PUBCHEM.COMPOUND:60846", "UNII:80M03YXJ7I"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9932", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19881015", "medic_mention_id": "MEDICNE:7d1a82d8-e088-5de5-bd92-5a87480baab9", "medic_reliability": "MEDIUM", "name": "Vancomycin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Vancomycin Hydrochloride Capsules", "Vancomycin Hydrochloride for Injection", "注射用盐酸万古霉素"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "CHEBI:9939", "medic_application_numbers": ["018776|074334|074688|075164|075218|075549|075558|078274|079001|090243|203725|205390|206670"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19840430", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c5c8a815-f7cc-59ea-9830-15f564c3f037", "medic_reliability": "HIGH", "medic_smiles": "CC(=O)O[C@H]1C[C@@H]2CC[C@@H]3[C@H](CC[C@@]4(C)[C@H]3C[C@H]([N+]3(C)CCCCC3)[C@@H]4OC(C)=O)[C@@]2(C)C[C@@H]1N1CCCCC1.[Br-]", "name": "vecuronium", "provided_by": ["infores:medic"], "synonym": ["VECURONIUM BROMIDE", "Vecuronium"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201219", "DRUGBANK:DB01339", "DrugCentral:2811", "PHAROS:F3K4UMSQGHZ6", "PUBCHEM.COMPOUND:39765", "UNII:5438723848"]}
{"category": ["biolink:Drug"], "id": "CHEBI:9940", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:ab835f06-f8ac-5e22-b2fa-7b63f29f2976", "medic_reliability": "MEDIUM", "name": "vecuronium bromide", "provided_by": ["infores:medic"], "synonym": ["Vecuronium Bromide Injection", "Vecuronium Bromide for Injection", "注射用维库溴铵"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9944", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20000616", "medic_mention_id": "MEDICNE:eb700589-3b39-5b3f-9e0d-9bba0887c3d0", "medic_reliability": "MEDIUM", "name": "venlafaxine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Venlafaxine Hydrochloride Extended-Release Capsules", "Venlafaxine Hydrochloride Extended-Release Tablets", "Venlafaxine Hydrochloride Tablets", "盐酸文拉法辛缓释片"]}
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{"category": ["biolink:Drug"], "id": "CHEBI:9985", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091001", "medic_mention_id": "MEDICNE:3debdaab-440a-5a4a-a7cb-3772d99fc2c0", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-007710/09"], "medic_reliability": "MEDIUM", "name": "vincamine", "provided_by": ["infores:medic"], "synonym": ["Vincamine", "Винкамин"], "xref": ["GTOPDB:349", "PHAROS:DD44FJKHMUUY", "PUBCHEM.COMPOUND:15376"]}
{"category": ["biolink:Drug"], "id": "DRON:00000500", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19851030", "medic_mention_id": "MEDICNE:142331af-03cb-59b4-886d-6affb10595ef", "medic_reliability": "LOW", "name": "albendazole tablet", "provided_by": ["infores:medic"], "synonym": ["Albendazole Tablets", "阿苯达唑片"]}
{"category": ["biolink:Drug"], "id": "DRON:00000502", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19970312", "medic_mention_id": "MEDICNE:bfa327e2-319c-5222-9274-1f5d17a3f7c9", "medic_reliability": "LOW", "name": "ciprofloxacin tablet", "provided_by": ["infores:medic"], "synonym": ["Ciprofloxacin Tablets", "环丙沙星片"]}
{"category": ["biolink:Drug"], "id": "DRON:00001104", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220722", "medic_mention_id": "MEDICNE:3a52c26d-4551-5fe8-800e-3634853fcc29", "medic_reliability": "LOW", "name": "folic acid tablet", "provided_by": ["infores:medic"], "synonym": ["Folic Acid Tablets", "叶酸片"]}
{"category": ["biolink:Drug"], "id": "DRON:00001506", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19940407", "medic_mention_id": "MEDICNE:505e2ebe-4344-5193-94dc-b5a7cf648ffd", "medic_reliability": "LOW", "name": "fluconazole capsule", "provided_by": ["infores:medic"], "synonym": ["Fluconazole Capsules", "氟康唑胶囊"]}
{"category": ["biolink:Drug"], "id": "DRON:00001508", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20181219", "medic_mention_id": "MEDICNE:12cf9f94-53d8-5d59-bd58-e35c48dea78a", "medic_reliability": "LOW", "name": "metronidazole tablet", "provided_by": ["infores:medic"], "synonym": ["Metronidazole Tablets", "甲硝唑片"]}
{"category": ["biolink:Drug"], "id": "DRON:00001509", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220627", "medic_mention_id": "MEDICNE:c10be8f7-0c0b-5e3b-9ed1-060ad69163bc", "medic_reliability": "LOW", "name": "prednisolone tablet", "provided_by": ["infores:medic"], "synonym": ["Prednisolone Tablets", "泼尼松龙片"]}
{"category": ["biolink:Drug"], "id": "DRON:00010616", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060901", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:3d312aab-72b3-53ef-bf10-54408c6734b9", "medic_registration_numbers": ["MOH_RUSSIA:П N008793"], "medic_reliability": "MEDIUM", "name": "dihydroergotoxine", "provided_by": ["infores:medic"], "synonym": ["Dihydroergotoxin + Clopamide + Reserpine", "Дигидроэрготоксин+Клопамид+Резерпин"]}
{"category": ["biolink:Drug"], "id": "DRON:00011136", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19920914", "medic_mention_id": "MEDICNE:8728314c-4ac2-5b2b-bb93-0eaae62595dd", "medic_reliability": "HIGH", "name": "muromonab-CD3", "provided_by": ["infores:medic"], "synonym": ["muromonab-CD3"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201608", "DrugCentral:5177", "PHAROS:muromonab-CD3"]}
{"category": ["biolink:Drug"], "id": "DRON:00011813", "medic_application_numbers": ["013401|070291|070652|070691|070698|070699|070841|070849|071279|071812|072974"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:41a2f289-1e1b-5290-8981-69986252ea98", "medic_reliability": "HIGH", "name": "methyldopate", "provided_by": ["infores:medic"], "synonym": ["METHYLDOPATE HYDROCHLORIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201233", "DrugCentral:4218", "PHAROS:KSC2ZZSQHKT5", "PUBCHEM.COMPOUND:17277", "UNII:2579Z4P04J"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00011824", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19991209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b037a62a-deb1-53b9-9a70-2c47ad81b2c0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-007668"], "medic_reliability": "HIGH", "name": "Yellow Fever Vaccine", "provided_by": ["infores:medic"], "synonym": ["Yellow Fever Vaccine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012137", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19891220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:42c67f36-a68e-57fa-b8e7-47fc78d0bb74", "medic_reliability": "MEDIUM", "name": "Haemophilus B Conjugate Vaccine", "provided_by": ["infores:medic"], "synonym": ["Haemophilus b Conjugate Vaccine (Meningococcal Protein Conjugate)", "Haemophilus b Conjugate Vaccine (Tetanus Toxoid Conjugate)"]}
{"category": ["biolink:Drug"], "id": "DRON:00012199", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20060221", "medic_mention_id": "MEDICNE:b292590c-9c8e-5529-80c0-b131c50fe24c", "medic_reliability": "HIGH", "name": "ROTAVIRUS VACCINE, LIVE", "provided_by": ["infores:medic"], "synonym": ["rotavirus vaccine, live"]}
{"category": ["biolink:Drug"], "id": "DRON:00012319", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19670711", "medic_mention_id": "MEDICNE:00be248f-836f-5ed1-bd66-9be598f542d6", "medic_registration_numbers": ["MOH_RUSSIA:67/554/281"], "medic_reliability": "LOW", "name": "LICORICE ROOT", "provided_by": ["infores:medic"], "synonym": ["Licorice roots", "Солодки корни"]}
{"category": ["biolink:Drug"], "id": "DRON:00012478", "medic_application_numbers": ["006811|007320|080097|080138|080947"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:cb89d7ba-d5fe-5c14-9ebf-b3d0e368ab8b", "medic_reliability": "HIGH", "name": "aminosalicylate", "provided_by": ["infores:medic"], "synonym": ["AMINOSALICYLATE SODIUM", "AMINOSALICYLATE SODIUM; AMINOSALICYLIC ACID"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012716", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970211", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:9061b4dd-445a-5aee-8cee-1fd103af8018", "medic_reliability": "LOW", "name": "factor IX", "provided_by": ["infores:medic"], "synonym": ["Coagulation Factor IX (Recombinant)", "Coagulation Factor IX (Recombinant), Albumin Fusion Protein", "Coagulation Factor IX (Recombinant), GlycoPEGylated"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012840", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19860422", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d629698e-8393-5a76-9f08-26d8b2488c85", "medic_reliability": "LOW", "name": "digoxin antibodies Fab fragments", "provided_by": ["infores:medic"], "synonym": ["Digoxin Immune Fab (Ovine)"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00012842", "medic_stub": true, "name": "corticorelin ovine", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012884", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19900417", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1f1e0b39-f190-5240-bc57-a7a940310759", "medic_reliability": "MEDIUM", "name": "cytomegalovirus immune globulin", "provided_by": ["infores:medic"], "synonym": ["Cytomegalovirus Immune Globulin Intravenous (Human)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012890", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19890621", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0a26fbaa-718c-52c1-a266-181b5fad2b4a", "medic_reliability": "HIGH", "name": "BCG Vaccine", "provided_by": ["infores:medic"], "synonym": ["BCG Vaccine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00012997", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "19980512", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ef65c23e-987a-560c-833c-40a26aa5cd3a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011247)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "basiliximab", "provided_by": ["infores:medic"], "synonym": ["BASILIXIMAB", "Basiliximab", "basiliximab"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201439", "DRUGBANK:DB00074", "DrugCentral:4940", "PHAROS:basiliximab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013031", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20200401", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c204fbb9-3cb7-5335-8575-c2522d3179f9", "medic_reliability": "LOW", "name": "factor VIIa", "provided_by": ["infores:medic"], "synonym": ["coagulation factor VIIa (recombinant)-jncw"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013042", "medic_approved_authorities": ["CDSCO", "EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "india", "japan", "russia", "usa"], "medic_earliest_approval_date": "19971126", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:48ab881c-4fd9-5870-8f5c-dc582253304b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002420"], "medic_reliability": "HIGH", "name": "rituximab", "provided_by": ["infores:medic"], "synonym": ["RITUXIMAB", "RITUXIMAB [RITUXIMAB BIOSIMILAR 1]", "RITUXIMAB [RITUXIMAB BIOSIMILAR 2]", "Rituximab", "Rituximab 10mg/ml vial (Concentrate for solution for infusion)", "rituximab", "rituximab-abbs", "rituximab-arrx", "rituximab-pvvr"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201576", "DRUGBANK:DB00073", "DrugCentral:4975", "PHAROS:rituximab", "UNII:4F4X42SYQ6"]}
{"category": ["biolink:Drug"], "id": "DRON:00013140", "medic_application_numbers": ["011860"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:1f92f20b-9f30-5aef-b95b-3ca0006ca175", "medic_reliability": "HIGH", "name": "demecarium", "provided_by": ["infores:medic"], "synonym": ["DEMECARIUM BROMIDE"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201229", "DrugCentral:801", "PHAROS:YNBD52S8V5CM", "PUBCHEM.COMPOUND:5966", "UNII:ILP8XJ8R5K"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013433", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110217", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:18660af4-1ed2-51df-ba13-42ec32fe8f5b", "medic_reliability": "LOW", "name": "factor XIII", "provided_by": ["infores:medic"], "synonym": ["Coagulation Factor XIII A-Subunit (Recombinant)", "Factor XIII Concentrate (Human)"]}
{"category": ["biolink:Drug"], "id": "DRON:00013437", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080218", "medic_mention_id": "MEDICNE:75ab35c4-9e88-5e55-be39-287672291877", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-000821/08"], "medic_reliability": "MEDIUM", "name": "hemicellulase", "provided_by": ["infores:medic"], "synonym": ["Hemicellulase", "Гемицеллюлаза"]}
{"category": ["biolink:Drug"], "id": "DRON:00013510", "medic_application_numbers": ["006317|006904|006920|080013|080079|080086|080094|080099|080100|080123|080280"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:17529f0e-8f88-5a02-8363-0d6ab1aed6bb", "medic_reliability": "LOW", "name": "trisulfapyrimidine", "provided_by": ["infores:medic"], "synonym": ["TRISULFAPYRIMIDINES (SULFADIAZINE;SULFAMERAZINE;SULFAMETHAZINE)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013702", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20231020", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8e72d860-796f-5c18-869a-33e0080bb25f", "medic_reliability": "LOW", "name": "meningococcal group A polysaccharide", "provided_by": ["infores:medic"], "synonym": ["Meningococcal Groups A, B, C, W and Y Vaccine", "Meningococcal Groups A, B, C, W, and Y Vaccine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013783", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19961204", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f741ad9d-247f-5947-9c75-4934fdeb4338", "medic_reliability": "LOW", "name": "lymphocyte immune globulin, anti-thymocyte globulin", "provided_by": ["infores:medic"], "synonym": ["Lymphocyte Immune Globulin, Anti-thymocyte Globulin (Equine)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00013812", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20090713", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:171efb0f-ba68-5ed3-8f10-57fdcc36785b", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-005615/09"], "medic_reliability": "HIGH", "name": "collagenase", "provided_by": ["infores:medic"], "synonym": ["Collagenase", "collagenase"], "xref": ["DRUGBANK:DB00048"]}
{"category": ["biolink:Drug"], "id": "DRON:00014107", "medic_application_numbers": ["020044"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19900802", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:07f60b89-0788-5f81-8159-20711216f159", "medic_reliability": "HIGH", "name": "colfosceril", "provided_by": ["infores:medic"], "synonym": ["CETYL ALCOHOL; COLFOSCERIL PALMITATE; TYLOXAPOL"]}
{"category": ["biolink:Drug"], "id": "DRON:00014409", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:6d226b98-5577-568c-8eab-39308d8ded0f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000117"], "medic_reliability": "MEDIUM", "name": "licorice root extract", "provided_by": ["infores:medic"], "synonym": ["Licorice Root Extract", "Солодки корней экстракт"]}
{"category": ["biolink:Drug"], "id": "DRON:00015290", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:60c7eb57-4962-59fd-b520-c1ea5629e986", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(008319)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "dichlorobenzyl alcohol", "provided_by": ["infores:medic"], "synonym": ["Amylmetacresol + Dichlorobenzyl Alcohol", "Amylmetacresol + Dichlorobenzyl Alcohol + Lidocaine", "Amylmetacresol + Dichlorobenzyl Alcohol + [Ascorbic Acid]", "Amylmetacresol + Dichlorobenzyl Alcohol + [Levomenthol]", "Амилметакрезол+Дихлорбензиловый спирт+Лидокаин"]}
{"category": ["biolink:Drug"], "id": "DRON:00015766", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071220", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:0c2e929c-33c2-5cd7-8b15-97bdc94269d2", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000336"], "medic_reliability": "MEDIUM", "name": "greater celandine", "provided_by": ["infores:medic"], "synonym": ["Greater celandine (herb)", "Чистотела большого трава"]}
{"category": ["biolink:Drug"], "id": "DRON:00016277", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071205", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:947b5e0b-d64b-5259-bcb4-6fb8a1659f85", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001169)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Measles Vaccine", "provided_by": ["infores:medic"], "synonym": ["Measles Vaccine", "Вакцина для профилактики кори"]}
{"category": ["biolink:Drug"], "id": "DRON:00016690", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:216051d8-2240-57df-837d-7f77871c23da", "medic_reliability": "MEDIUM", "name": "diethylamine salicylate", "provided_by": ["infores:medic"], "synonym": ["Diethylamine Salicylate 10% w/w Cream"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00016704", "medic_application_numbers": ["020193"], "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "19960926", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4cc9a52f-5d84-5ad8-89a6-af897305b1ec", "medic_reliability": "HIGH", "name": "pentosan polysulfate", "provided_by": ["infores:medic"], "synonym": ["PENTOSAN POLYSULFATE SODIUM", "Pentosan polysulfate", "pentosan polysulfate sodium"], "xref": ["DRUGBANK:DB00686", "UNII:F59P8B75R4"]}
{"category": ["biolink:Drug"], "id": "DRON:00016834", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080317", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:04935642-ac49-5aa6-b571-121c8fa7069e", "medic_registration_numbers": ["MOH_RUSSIA:Р N000548/01"], "medic_reliability": "MEDIUM", "name": "belladonna alkaloids", "provided_by": ["infores:medic"], "synonym": ["Belladonna alkaloids", "Belladonna alkaloids + Phenobarbital + Ergotamine", "Белладонны алкалоиды"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00016889", "medic_stub": true, "name": "activated charcoal", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00016914", "medic_application_numbers": ["020622|090218|091646|203857|206873|206921|206936|208468|213382|214022|214741"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "19961220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dc63be21-6a46-54ad-992a-696640bc2970", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003194"], "medic_reliability": "HIGH", "name": "glatiramer", "provided_by": ["infores:medic"], "synonym": ["GLATIRAMER ACETATE", "Glatiramer acetate"], "xref": ["DRUGBANK:DBSALT002719", "UNII:U782C039QP"]}
{"category": ["biolink:Drug"], "id": "DRON:00016952", "medic_approved_authorities": ["FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["japan", "russia", "usa"], "medic_earliest_approval_date": "20010119", "medic_mention_id": "MEDICNE:7e2ddd06-cd46-5bcd-af91-a92dce73dcee", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-002542"], "medic_reliability": "HIGH", "name": "peginterferon alfa-2b", "provided_by": ["infores:medic"], "synonym": ["PEGINTERFERON ALFA-2B", "Peginterferon alfa-2b", "peginterferon alfa-2b", "peginterferon alfa-2b and ribavirin"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201561", "DrugCentral:5164"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00016953", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19960402", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:09533da4-c182-559a-8be4-41c64e58a79a", "medic_reliability": "HIGH", "name": "Rho(D) immune globulin", "provided_by": ["infores:medic"], "synonym": ["Rho(D) Immune Globulin Intravenous (Human)", "Rho(d) immune globulin"]}
{"category": ["biolink:Drug"], "id": "DRON:00017166", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20061229", "medic_mention_id": "MEDICNE:8e884a50-465b-5f97-b727-6e6c48f7c126", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000285"], "medic_reliability": "MEDIUM", "name": "Senna Leaves", "provided_by": ["infores:medic"], "synonym": ["Senna Leaves", "Сенны листья"]}
{"category": ["biolink:Drug"], "id": "DRON:00017208", "medic_application_numbers": ["020227"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970523", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:c6912c1e-780c-5f98-b93a-20fe18b1a16c", "medic_reliability": "HIGH", "name": "ardeparin", "provided_by": ["infores:medic"], "synonym": ["ARDEPARIN SODIUM"]}
{"category": ["biolink:Drug"], "id": "DRON:00017235", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080526", "medic_mention_id": "MEDICNE:5dd57985-51c2-5f30-9a33-a541843b9051", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(001405)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Smallpox Vaccine", "provided_by": ["infores:medic"], "synonym": ["Smallpox Vaccine", "Вакцина для профилактики оспы"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00017627", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20250214", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0ea5b0b8-a2a4-5263-a43e-0e84b8b778ed", "medic_reliability": "LOW", "name": "insulin aspart, human", "provided_by": ["infores:medic"], "synonym": ["insulin aspart-szjj", "insulin aspart-xjhz"]}
{"category": ["biolink:Drug"], "id": "DRON:00017784", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070427", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:d3db8632-c990-5dc4-973a-1fa12bc5ee5b", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-001101"], "medic_reliability": "MEDIUM", "name": "shark liver oil", "provided_by": ["infores:medic"], "synonym": ["Benzocaine + Shark Liver Oil", "Shark Liver Oil + Phenylephrine", "Бензокаин+Печени акулы масло"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00017826", "medic_stub": true, "name": "polyethylene glycol 400", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00017939", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20030725", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:30604232-818c-5548-91ae-0afbee83087c", "medic_reliability": "LOW", "name": "factor VIII", "provided_by": ["infores:medic"], "synonym": ["Antihemophilic Factor (Recombinant), GlycoPEGylated-exei", "Antihemophilic Factor (Recombinant), PEGylated", "Antihemophilic Factor (Recombinant), Plasma/Albumin Free", "Antihemophilic Factor (Recombinant), Plasma/Albumin Free Method", "Antihemophilic Factor (Recombinant), Porcine Sequence", "Antihemophilic Factor (Recombinant), Single Chain"]}
{"category": ["biolink:Drug"], "id": "DRON:00018024", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071121", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:c7a436e6-155d-582e-8d86-ffdfb7e689af", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003723)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "iron protein succinylate", "provided_by": ["infores:medic"], "synonym": ["Iron Protein Succinylate + Calcium Folinate", "iron protein succinylate", "железа протеин сукцинилат"], "xref": ["UNII:VBJ9L90P4L"]}
{"category": ["biolink:Drug"], "id": "DRON:00018199", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19710310", "medic_mention_id": "MEDICNE:0f2ba142-afe9-58f3-847f-5a80123529f4", "medic_registration_numbers": ["MOH_RUSSIA:71/146/31"], "medic_reliability": "MEDIUM", "name": "turpentine", "provided_by": ["infores:medic"], "synonym": ["Turpentine", "Turpentine Ointment", "Скипидар живичный"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018213", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19980501", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:65c6ec4a-979f-507b-8ed8-1bee4344a4bb", "medic_reliability": "LOW", "name": "fibrinogen", "provided_by": ["infores:medic"], "synonym": ["Fibrin Sealant (Tisseel)", "fibrinogen, human–chmt"], "xref": ["UNII:N94833051K"]}
{"category": ["biolink:Drug"], "id": "DRON:00018267", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090320", "medic_features": ["METALLIC_SALT", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:805dda08-e463-578b-9f96-97704fce245d", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(010102)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "manganese gluconate", "provided_by": ["infores:medic"], "synonym": ["Iron Gluconate + Manganese Gluconate + Copper Gluconate", "Железа глюконат+Марганца глюконат+Меди глюконат"]}
{"category": ["biolink:Drug"], "id": "DRON:00018405", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080409", "medic_mention_id": "MEDICNE:773bacf1-ac54-5212-90fe-30e37bf29d42", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000128"], "medic_reliability": "MEDIUM", "name": "milk thistle fruit extract", "provided_by": ["infores:medic"], "synonym": ["Milk Thistle Fruit Extract", "Milk Thistle Fruit Extract + Phospholipids", "Расторопши пятнистой плодов экстракт"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018413", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19911008", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:07e6fc99-108b-5955-989b-02a3c7bddd0c", "medic_reliability": "LOW", "name": "wasp venom protein", "provided_by": ["infores:medic"], "synonym": ["Venoms, Wasp Venom Protein"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018470", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19760223", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:317dd566-869b-5a94-8711-eb9e73673a47", "medic_reliability": "LOW", "name": "albumin,iodinated I-131 serum", "provided_by": ["infores:medic"], "synonym": ["iodinated I-131 albumin"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018534", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20180619", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6c559d1b-ef72-5cad-a28d-ef09139da7f9", "medic_reliability": "LOW", "name": "albumin human, USP", "provided_by": ["infores:medic"], "synonym": ["Albumin (Human)-kjda"]}
{"category": ["biolink:Drug"], "id": "DRON:00018589", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20011121", "medic_mention_id": "MEDICNE:2cb79698-ea72-560f-b60e-2e8e1abecc1a", "medic_reliability": "HIGH", "name": "drotrecogin alfa", "provided_by": ["infores:medic"], "synonym": ["drotrecogin alfa"]}
{"category": ["biolink:Drug"], "id": "DRON:00018593", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20100505", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_mention_id": "MEDICNE:0600afc5-c34a-5c9c-835b-db5b66ffc79b", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(002837)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "sodium lauryl sulfoacetate", "provided_by": ["infores:medic"], "synonym": ["Sodium citrate + Sodium lauryl sulfoacetate + Sorbitol", "Sodium lauryl sulfoacetate + Sodium citrate + Sorbitol", "sodium lauryl sulfoacetate", "натрия лаурилсульфоацетат"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018604", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20200423", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f2663c48-c8b7-5189-9bf2-b25fc8057437", "medic_reliability": "LOW", "name": "meningococcal polysaccharide vaccine group Y", "provided_by": ["infores:medic"], "synonym": ["Meningococcal (Groups A, C, Y, W) Conjugate Vaccine"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018612", "medic_application_numbers": ["021097|021892|079247"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20000921", "medic_features": ["NO_THERAPEUTIC_VALUE", "METALLIC_SALT"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6797ac9a-1fa7-590b-828f-f11b178d79fe", "medic_reliability": "HIGH", "name": "SODIUM PHOSPHATE, DIBASIC, ANHYDROUS", "provided_by": ["infores:medic"], "synonym": ["SODIUM PHOSPHATE, DIBASIC, ANHYDROUS; SODIUM PHOSPHATE, MONOBASIC, MONOHYDRATE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018619", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19911008", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:a576a738-3277-50f8-a709-97528558034e", "medic_reliability": "LOW", "name": "yellow jacket venom protein", "provided_by": ["infores:medic"], "synonym": ["Venoms, Yellow Jacket Venom Protein"]}
{"category": ["biolink:Drug"], "id": "DRON:00018659", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090116", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:90f76f99-f386-57ca-9958-04f4cf4ea78c", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-000166/09"], "medic_reliability": "LOW", "name": "passion flower extract", "provided_by": ["infores:medic"], "synonym": ["Passionflower extract", "Пассифлоры экстракт"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018781", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20031023", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dca2f203-ca05-5f14-9690-1251e73b4ddf", "medic_reliability": "LOW", "name": "botulism immune globulin IV human", "provided_by": ["infores:medic"], "synonym": ["Botulism Immune Globulin Intravenous (Human)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00018852", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19901231", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:56b36d92-f12a-59d9-8dff-0ed06093440e", "medic_reliability": "HIGH", "name": "Coagulation Factor IX (Human)", "provided_by": ["infores:medic"], "synonym": ["Coagulation Factor IX (Human)", "Coagulation Factor X (Human)"]}
{"category": ["biolink:Drug"], "id": "DRON:00018853", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20060109", "medic_mention_id": "MEDICNE:2dba43b0-798c-52b0-9ae0-95c4e21d44f6", "medic_reliability": "HIGH", "name": "Immune Globulin Subcutaneous (Human)", "provided_by": ["infores:medic"], "synonym": ["Immune Globulin Subcutaneous (Human)"]}
{"category": ["biolink:Drug"], "id": "DRON:00018911", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20090817", "medic_features": ["NO_THERAPEUTIC_VALUE", "COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:a426a67d-9eba-5b13-8dfe-36d07808561c", "medic_registration_numbers": ["MOH_RUSSIA:ЛСР-006557/09"], "medic_reliability": "MEDIUM", "name": "pumpkin seed oil", "provided_by": ["infores:medic"], "synonym": ["Pumpkin Seed Oil", "Тыквы семян масло"]}
{"category": ["biolink:Drug"], "id": "DRON:00018984", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20070420", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:0bf675cd-1686-5fa2-87dd-c8e3ee43834e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001699"], "medic_reliability": "MEDIUM", "name": "saw palmetto fruit extract", "provided_by": ["infores:medic"], "synonym": ["Saw Palmetto Fruit Extract", "Пальмы ползучей плодов экстракт"]}
{"category": ["biolink:Drug"], "id": "DRON:00019012", "medic_application_numbers": ["021756"], "medic_approved_authorities": ["FDA", "PMDA"], "medic_approved_jurisdictions": ["japan", "usa"], "medic_earliest_approval_date": "20041217", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:4b474c1a-abfa-5703-87f2-62957d992cd2", "medic_reliability": "HIGH", "name": "pegaptanib", "provided_by": ["infores:medic"], "synonym": ["PEGAPTANIB SODIUM"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108752", "DrugCentral:4905", "PHAROS:pegaptanib"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019030", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20440111", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:68741e69-5fa8-58ac-a256-5531484070a4", "medic_reliability": "HIGH", "name": "Immune Globulin (Human)", "provided_by": ["infores:medic"], "synonym": ["Immune Globulin (Human)"]}
{"category": ["biolink:Drug"], "id": "DRON:00019101", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20161017", "medic_mention_id": "MEDICNE:fc0cbc8c-ad1b-5110-8f2d-d3c8f156a786", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001519"], "medic_reliability": "MEDIUM", "name": "milk thistle extract", "provided_by": ["infores:medic"], "synonym": ["Milk Thistle Extract", "Расторопши пятнистой экстракт"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019201", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19970129", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1308cff6-4002-5715-8d64-cfa6204af3f3", "medic_reliability": "LOW", "name": "acellular pertussis vaccine, inactivated", "provided_by": ["infores:medic"], "synonym": ["Diphtheria & Tetanus Toxoids & Acellular Pertussis Vaccine Adsorbed"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019206", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19981112", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e36a8306-c3ed-58c0-9173-ab42d3a057e5", "medic_reliability": "HIGH", "name": "Anthrax Vaccine Adsorbed", "provided_by": ["infores:medic"], "synonym": ["Anthrax Vaccine Adsorbed"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019220", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19991222", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:19e12c3e-3b64-5efd-908f-fc7610550000", "medic_reliability": "LOW", "name": "insulin lispro protamine, human", "provided_by": ["infores:medic"], "synonym": ["insulin lispro protamine and insulin lispro"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019228", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20080422", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:19c5d4bc-46b4-5650-945c-d966bc241c44", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000008"], "medic_reliability": "HIGH", "name": "certolizumab pegol", "provided_by": ["infores:medic"], "synonym": ["CERTOLIZUMAB PEGOL", "Certolizumab pegol", "certolizumab pegol"], "xref": ["CHEMBL.COMPOUND:CHEMBL1201831", "DRUGBANK:DB08904", "DrugCentral:4968", "UNII:UMD07X179E"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019239", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140401", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:825f29f2-191a-5168-9a6b-ea63d38907e0", "medic_reliability": "LOW", "name": "orchard grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Sweet Vernal, Orchard, Perennial Rye, Timothy, and Kentucky Blue Grass Mixed Pollens Allergen Extract"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019243", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19740312", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ca960b3d-e177-5425-85e2-84702ee43ea8", "medic_reliability": "LOW", "name": "sweet vernal grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Sweet Vernal Grass Anthoxanthum odoratum"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019248", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19740312", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:75061aaf-6c24-5ba7-b29b-1239ae8f1484", "medic_reliability": "LOW", "name": "meadow fescue grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Fescue, Meadow Festuca elatior"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019398", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240313", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:3610047f-9fa2-50ee-aaba-11ea27fd6b60", "medic_reliability": "LOW", "name": "Kentucky bluegrass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Bluegrass, Kentucky (June) Poa pratensis"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019452", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20090429", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:432930be-6ac3-58f9-8c9f-d1f762c137f2", "medic_reliability": "HIGH", "name": "abobotulinumtoxinA", "provided_by": ["infores:medic"], "synonym": ["abobotulinumtoxinA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019453", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20001208", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fca99e99-3b31-572d-b62c-080dad037fd5", "medic_reliability": "HIGH", "name": "rimabotulinumtoxinB", "provided_by": ["infores:medic"], "synonym": ["rimabotulinumtoxinB"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019454", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19911209", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8a0a8ab1-7cec-5652-b4ff-3e3d1ee789d8", "medic_reliability": "HIGH", "name": "onabotulinumtoxinA", "provided_by": ["infores:medic"], "synonym": ["onabotulinumtoxinA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019515", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20001002", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:fc9eef67-d5f6-52b3-b19e-f350ae5f9299", "medic_reliability": "LOW", "name": "Crotalus adamanteus antivenin", "provided_by": ["infores:medic"], "synonym": ["Crotalidae Polyvalent Immune Fab (Ovine)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019528", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20200131", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8ba942bb-6c46-5d6f-bf3b-de62458521b7", "medic_reliability": "LOW", "name": "peanut allergenic extract", "provided_by": ["infores:medic"], "synonym": ["Peanut (Arachis hypogaea) Allergen Powder-dnfp"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019607", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20080416", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:67355659-e278-5400-89b1-86a89f1377f4", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003186"], "medic_reliability": "HIGH", "name": "tocilizumab", "provided_by": ["infores:medic"], "synonym": ["TOCILIZUMAB", "TOCILIZUMAB [TOCILIZUMAB BIOSIMILAR 1]", "Tocilizumab", "tocilizumab", "tocilizumab-aazg", "tocilizumab-anoh", "tocilizumab-bavi"], "xref": ["CHEMBL.COMPOUND:CHEMBL1237022", "DRUGBANK:DB06273", "DrugCentral:4933", "PHAROS:tocilizumab", "UNII:I031V2H011"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019756", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20100226", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:77ed9135-5f89-5e2f-aceb-ed4654fb62fc", "medic_reliability": "HIGH", "name": "velaglucerase alfa", "provided_by": ["infores:medic"], "synonym": ["velaglucerase alfa"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00019893", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20100429", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d4c511b4-0bf5-5145-9f68-0048106e8c47", "medic_reliability": "HIGH", "name": "sipuleucel-T", "provided_by": ["infores:medic"], "synonym": ["sipuleucel-T"]}
{"category": ["biolink:Drug"], "id": "DRON:00019944", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20200629", "medic_mention_id": "MEDICNE:524faaa7-8e58-556e-8766-b6ad746ade7a", "medic_reliability": "HIGH", "name": "incobotulinumtoxin A", "provided_by": ["infores:medic"], "synonym": ["INCOBOTULINUMTOXIN A"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020080", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110316", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:8001e41c-5685-5c28-a524-2d6fbb9cbf07", "medic_reliability": "LOW", "name": "adenovirus type 7 vaccine live", "provided_by": ["infores:medic"], "synonym": ["Adenovirus Type 4 and Type 7 Vaccine, Live, Oral"]}
{"category": ["biolink:Drug"], "id": "DRON:00020124", "medic_mention_id": "MEDICNE:0b970828-18ec-5514-83e4-240820b6c977", "medic_reliability": "EXCLUDED", "name": "L-METHYLFOLATE", "provided_by": ["infores:medic"], "synonym": ["L-methylfolate"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020145", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19740312", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5fdf26c9-cc33-506d-a824-4caf8508d419", "medic_reliability": "LOW", "name": "redtop grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Redtop Agrostis alba"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020152", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240313", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:ace8fae3-2198-5c3c-9746-5574e1acd38b", "medic_reliability": "LOW", "name": "Bermuda grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Bermuda Grass Cynodon dactylon"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020153", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140411", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7db9b052-7a15-50a2-8f2f-4679b7fc29a0", "medic_reliability": "LOW", "name": "Timothy grass pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Grasses, Timothy Phleum pratense", "Timothy Grass Pollen Allergen Extract"]}
{"category": ["biolink:Drug"], "id": "DRON:00020179", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110608", "medic_mention_id": "MEDICNE:7e81a158-0d31-55af-bb03-1b6644996e5f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(003150)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Bifidobacterium longum", "provided_by": ["infores:medic"], "synonym": ["Bifidobacterium longum + Enterococcus faecium", "Бифидобактерии лонгум+Энтерококкус фэциум"]}
{"category": ["biolink:Drug"], "id": "DRON:00020180", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20060317", "medic_mention_id": "MEDICNE:63fbf7fa-caea-5baa-80d5-82b6e585d18a", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007194)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "Bifidobacterium bifidum", "provided_by": ["infores:medic"], "synonym": ["Bifidobacterium bifidum", "Бифидобактерии бифидум"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020200", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140417", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d592baea-3c41-59be-a88b-01d60e7f0fd8", "medic_reliability": "LOW", "name": "short ragweed pollen extract", "provided_by": ["infores:medic"], "synonym": ["Pollens - Weeds and Garden Plants, Ragweed, Short Ambrosia elatior", "Short Ragweed Pollen Allergen Extract"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00020247", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19911008", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:61e9f8dc-2cc9-55e0-860a-3a2f22a1b34a", "medic_reliability": "LOW", "name": "yellow hornet venom protein", "provided_by": ["infores:medic"], "synonym": ["Venoms, Yellow Hornet Venom Protein"]}
{"category": ["biolink:Drug"], "id": "DRON:00020353", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19990311", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:8e00d3d1-c92e-5b0e-ae3d-cf2a2ced48bd", "medic_reliability": "MEDIUM", "name": "nicotine Chewing Gum", "provided_by": ["infores:medic"], "synonym": ["Nicotine Chewing Gum", "尼古丁咀嚼胶"]}
{"category": ["biolink:Drug"], "id": "DRON:00021034", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20020221", "medic_mention_id": "MEDICNE:7a1db76e-9152-5f3f-af14-113ae8b3be1b", "medic_reliability": "MEDIUM", "name": "budesonide Nasal Spray", "provided_by": ["infores:medic"], "synonym": ["Budesonide Nasal Spray", "布地奈德鼻喷雾剂"]}
{"category": ["biolink:Drug"], "id": "DRON:00021408", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960412", "medic_mention_id": "MEDICNE:fa1f37a4-74b3-50b6-83a8-80f6aa04bea4", "medic_reliability": "LOW", "name": "Clotrimazole Vaginal Tablet", "provided_by": ["infores:medic"], "synonym": ["Clotrimazole Vaginal Tablets", "克霉唑阴道片"]}
{"category": ["biolink:Drug"], "id": "DRON:00022719", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19941107", "medic_mention_id": "MEDICNE:a92c0d1f-2f36-5df6-9a7c-1d38add07788", "medic_reliability": "LOW", "name": "nitroglycerin Sublingual Tablet", "provided_by": ["infores:medic"], "synonym": ["Nitroglycerin Sublingual Tablets", "硝酸甘油舌下片"]}
{"category": ["biolink:Drug"], "id": "DRON:00023316", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20021029", "medic_mention_id": "MEDICNE:e68c19dd-4a77-59e3-8720-81ac22f1649b", "medic_reliability": "MEDIUM", "name": "risperidone Oral Solution", "provided_by": ["infores:medic"], "synonym": ["Risperidone Oral Solution", "利培酮口服溶液"]}
{"category": ["biolink:Drug"], "id": "DRON:00026595", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19960625", "medic_mention_id": "MEDICNE:c68682ce-ee9b-52e3-9668-7cb162ff0dec", "medic_reliability": "MEDIUM", "name": "lactulose Oral Solution", "provided_by": ["infores:medic"], "synonym": ["Lactulose Oral Solution", "乳果糖口服溶液"]}
{"category": ["biolink:Drug"], "id": "DRON:00026867", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20031231", "medic_mention_id": "MEDICNE:9e75cbe0-655f-56ee-b936-c4ce4f129f15", "medic_reliability": "MEDIUM", "name": "itraconazole Oral Solution", "provided_by": ["infores:medic"], "synonym": ["Itraconazole Oral Solution", "伊曲康唑口服溶液"]}
{"category": ["biolink:Drug"], "id": "DRON:00027972", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20110304", "medic_mention_id": "MEDICNE:618e5971-a2dc-528e-b1f9-124e2efb89da", "medic_reliability": "MEDIUM", "name": "levetiracetam Oral Solution", "provided_by": ["infores:medic"], "synonym": ["Levetiracetam Oral Solution", "左乙拉西坦口服溶液"]}
{"category": ["biolink:Drug"], "id": "DRON:00030118", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:ac6f0348-174e-5426-9457-310b9c4843e0", "medic_reliability": "MEDIUM", "name": "tranexamic acid Mouthwash", "provided_by": ["infores:medic"], "synonym": ["Tranexamic acid Mouth Wash (50mg/ml)", "Tranexamic acid mouthwash (50mg/ml)"]}
{"category": ["biolink:Drug"], "id": "DRON:00030291", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210202", "medic_mention_id": "MEDICNE:5aaa1d0a-bcf8-5ff2-845e-ab193972c161", "medic_reliability": "LOW", "name": "cefaclor Chewable Tablet", "provided_by": ["infores:medic"], "synonym": ["Cefaclor Chewable Tablets", "头孢克洛咀嚼片"]}
{"category": ["biolink:Drug"], "id": "DRON:00030318", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20120210", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:c771bf17-494a-50d8-9eca-d3b6db1cc116", "medic_reliability": "LOW", "name": "lanthanum carbonate Chewable Tablet", "provided_by": ["infores:medic"], "synonym": ["Lanthanum Carbonate Chewable Tablets", "碳酸镧咀嚼片"]}
{"category": ["biolink:Drug"], "id": "DRON:00034480", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:87950024-e1a6-5277-95b3-809cbc6cf98c", "medic_reliability": "LOW", "name": "Natamycin 25 MG Vaginal Tablet", "provided_by": ["infores:medic"], "synonym": ["Natamycin 25mg Vaginal Tablet"]}
{"category": ["biolink:Drug"], "id": "DRON:00042360", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:f77aacf8-b7c4-53b6-9a7f-657d0412b0fd", "medic_reliability": "LOW", "name": "minoxidil 20 MG/ML Topical Lotion", "provided_by": ["infores:medic"], "synonym": ["Minoxidil 20mg/ml Topical Lotion"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00723228", "medic_stub": true, "name": "capryloyl glycine", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00723429", "medic_stub": true, "name": "lavandin oil", "provided_by": ["infores:medic"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00723596", "medic_stub": true, "name": "hydroxyethylpiperazine ethane sulfonic acid", "provided_by": ["infores:medic"]}
{"available_from": ["over_the_counter"], "category": ["biolink:Drug"], "id": "DRON:00723866", "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "19821028", "medic_marketing_status_usa": "OTC", "medic_mention_id": "MEDICNE:d659d7c5-a9e1-5fb9-9a4a-e1536c931b7f", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000323"], "medic_reliability": "HIGH", "name": "insulin isophane", "provided_by": ["infores:medic"], "synonym": ["Insulin isophane [human recombinant]", "insulin isophane human", "insulin isophane human and insulin human", "Инсулин-изофан [человеческий генно-инженерный]"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00723894", "medic_stub": true, "name": "o-cymen-5-ol", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "DRON:00724343", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:4b311296-0f51-5355-9a2b-c2053202d7b2", "medic_reliability": "HIGH", "name": "glucagon Injection", "provided_by": ["infores:medic"], "synonym": ["Glucagon Injection"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00730818", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20130222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e351f060-07c0-55c7-8a02-e2cacbbefd14", "medic_reliability": "HIGH", "name": "ado-trastuzumab emtansine", "provided_by": ["infores:medic"], "synonym": ["ado-trastuzumab emtansine"]}
{"category": ["biolink:Drug"], "id": "DRON:00730854", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20150227", "medic_mention_id": "MEDICNE:1e221c52-0000-58f8-b85e-43ebc57b3965", "medic_registration_numbers": ["MOH_RUSSIA:ФС-001026"], "medic_reliability": "MEDIUM", "name": "influenza B virus antigen", "provided_by": ["infores:medic"], "synonym": ["Influenza A (H1N1) virus antigen", "Influenza A (H3N2) virus antigen", "Influenza A Virus Antigen (Mono-vaccine)", "Influenza A(H1N1) virus antigen (monovalent vaccine)", "Influenza A(H3N2) virus antigen (monovalent vaccine)", "Influenza B virus antigen", "Influenza B virus antigen (monovalent vaccine)", "Антиген вируса гриппа серотипа B"]}
{"category": ["biolink:Drug"], "id": "DRON:00731031", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250422", "medic_mention_id": "MEDICNE:98d6bc2f-271b-54a2-b077-ada83ce6e375", "medic_reliability": "MEDIUM", "name": "vitamin K1 Injection", "provided_by": ["infores:medic"], "synonym": ["Vitamin K1 Injection", "维生素K1注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731056", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210205", "medic_mention_id": "MEDICNE:87991b03-477e-5ede-b3f2-9570e4554434", "medic_reliability": "MEDIUM", "name": "midazolam Injection", "provided_by": ["infores:medic"], "synonym": ["Midazolam Injection", "咪达唑仑注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731131", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250313", "medic_mention_id": "MEDICNE:b9ae31a5-2188-5cea-b96f-f9e0b0e6d549", "medic_reliability": "MEDIUM", "name": "etoposide Injection", "provided_by": ["infores:medic"], "synonym": ["Etoposide Injection", "依托泊苷注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731133", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20191218", "medic_mention_id": "MEDICNE:bc75277e-ed3f-570b-ac00-ac1810d83cfc", "medic_reliability": "LOW", "name": "lacosamide Injection", "provided_by": ["infores:medic"], "synonym": ["Lacosaamide Injection", "拉考沙胺注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731145", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210427", "medic_mention_id": "MEDICNE:bca21345-15d8-5c7c-8744-789d234f5a5a", "medic_reliability": "MEDIUM", "name": "posaconazole Injection", "provided_by": ["infores:medic"], "synonym": ["Posaconazole Injection", "泊沙康唑注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731245", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20130716", "medic_mention_id": "MEDICNE:f7861635-1685-53f3-8024-6c095f84a6ca", "medic_reliability": "LOW", "name": "paricalcitol Injection", "provided_by": ["infores:medic"], "synonym": ["Palicalcitol Injection", "帕立骨化醇注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731349", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19990528", "medic_mention_id": "MEDICNE:0a661415-769c-5967-a174-fdf52433dafe", "medic_reliability": "HIGH", "name": "basiliximab Injection", "provided_by": ["infores:medic"], "synonym": ["Basiliximab Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00731369", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:374a8d57-6a02-5203-92af-a64e3b463778", "medic_reliability": "HIGH", "name": "polidocanol Injection", "provided_by": ["infores:medic"], "synonym": ["Polidocanol Injection", "Polydocanol Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00731488", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210823", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:b780a597-5893-56ea-b82c-8576f678c952", "medic_reliability": "MEDIUM", "name": "aminophylline Injection", "provided_by": ["infores:medic"], "synonym": ["Aminophylline Injection", "氨茶碱注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731597", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19961107", "medic_mention_id": "MEDICNE:dd6ed20a-1345-5ba6-afa9-1ca285d40538", "medic_reliability": "MEDIUM", "name": "paclitaxel Injection", "provided_by": ["infores:medic"], "synonym": ["Paclitaxel Injection", "紫杉醇注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731606", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200526", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:551b6c0a-bc73-5222-ac09-32d8e83bc85e", "medic_reliability": "MEDIUM", "name": "oxaliplatin Injection", "provided_by": ["infores:medic"], "synonym": ["Oxaliplatin Injection", "奥沙利铂注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731669", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20180731", "medic_mention_id": "MEDICNE:9237c987-bd1b-5079-bfd5-b17a840698b2", "medic_reliability": "MEDIUM", "name": "ibuprofen Injection", "provided_by": ["infores:medic"], "synonym": ["Ibuprofen Injection", "布洛芬注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00731678", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19710101", "medic_mention_id": "MEDICNE:7c3360c7-486f-5503-8ed9-51a1a259fe69", "medic_reliability": "HIGH", "name": "cytarabine Injection", "provided_by": ["infores:medic"], "synonym": ["Cytarabine Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00731680", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230928", "medic_mention_id": "MEDICNE:53e4e120-1bf5-5ea0-bc94-5bcac953b353", "medic_reliability": "MEDIUM", "name": "methotrexate Injection", "provided_by": ["infores:medic"], "synonym": ["Methotrexate Injection", "甲氨蝶呤注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00750765", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20091215", "medic_mention_id": "MEDICNE:6d00d72c-4b52-578e-b9a3-3013017efff8", "medic_registration_numbers": ["MOH_RUSSIA:П N016158/01"], "medic_reliability": "MEDIUM", "name": "factor VII", "provided_by": ["infores:medic"], "synonym": ["Factor VII (Blood Clotting Factor VII)", "Фактор VII (Фактор свертывания крови VII)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750785", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20150123", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:da322d57-b976-5227-a128-f2cc1c83621e", "medic_reliability": "HIGH", "name": "parathyroid hormone", "provided_by": ["infores:medic"], "synonym": ["Parathyroid hormone", "parathyroid hormone"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108078", "DRUGBANK:DB05829", "DrugCentral:4936"]}
{"category": ["biolink:Drug"], "id": "DRON:00750797", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20140826", "medic_mention_id": "MEDICNE:2d505372-4bd8-5a4e-9c34-8da4036203f0", "medic_reliability": "HIGH", "name": "sucroferric oxyhydroxide", "provided_by": ["infores:medic"], "synonym": ["sucroferric oxyhydroxide"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750808", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140328", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:c582af1a-5b03-5ce7-8e9f-924defeb59c6", "medic_reliability": "LOW", "name": "coagulation factor IX recombinant immunoglobulin G1 fusion protein", "provided_by": ["infores:medic"], "synonym": ["Coagulation Factor IX (Recombinant), Fc Fusion Protein"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750819", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20140904", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:08620610-166b-5f3e-99d8-1746723f48c1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003972"], "medic_reliability": "HIGH", "name": "pembrolizumab", "provided_by": ["infores:medic"], "synonym": ["PEMBROLIZUMAB", "Pembrolizumab", "pembrolizumab"], "xref": ["CHEMBL.COMPOUND:CHEMBL3137343", "DRUGBANK:DB09037", "DrugCentral:4924", "PHAROS:pembrolizumab", "UNII:DPT0O3T46P"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750823", "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "PMDA"], "medic_approved_jurisdictions": ["europe", "japan", "russia", "usa"], "medic_earliest_approval_date": "20140918", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0237488b-45b1-54e0-9aef-db671471b071", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003682"], "medic_reliability": "HIGH", "name": "dulaglutide", "provided_by": ["infores:medic"], "synonym": ["DULAGLUTIDE", "Dulaglutide", "dulaglutide"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108027", "DRUGBANK:DB09045", "DrugCentral:4885", "PHAROS:dulaglutide", "UNII:WTT295HSY5"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750829", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20130113", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:31657742-7c3d-552f-b575-3ee9cb10a88e", "medic_reliability": "HIGH", "name": "meningococcal group B vaccine", "provided_by": ["infores:medic"], "synonym": ["Meningococcal Group B Vaccine", "meningococcal group B Vaccine (rDNA, component, adsorbed)", "meningococcal group b vaccine (recombinant, adsorbed)"]}
{"category": ["biolink:Drug"], "id": "DRON:00750841", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20170428", "medic_mention_id": "MEDICNE:923c8399-e8b0-5fff-944c-2fc0044ea480", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004261"], "medic_reliability": "MEDIUM", "name": "omega-3 carboxylic acids", "provided_by": ["infores:medic"], "synonym": ["omega-3 carboxylic acids", "омега-3-карбоновые кислоты"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00750861", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20150324", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d3d2ec7b-224e-599c-b8c8-336e47e1bbf0", "medic_reliability": "MEDIUM", "name": "anthrax immune globulin", "provided_by": ["infores:medic"], "synonym": ["Anthrax Immune Globulin Intravenous (Human)"]}
{"category": ["biolink:Drug"], "id": "DRON:00750879", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20210118", "medic_mention_id": "MEDICNE:1c454b04-8827-5def-8d8e-0f0642041e52", "medic_reliability": "MEDIUM", "name": "tranexamic acid Injection", "provided_by": ["infores:medic"], "synonym": ["Tranexamic Acid Injection", "氨甲环酸注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00750908", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220616", "medic_mention_id": "MEDICNE:e2c30ffa-a11e-53b5-9acd-0e08d289805f", "medic_reliability": "MEDIUM", "name": "fluorouracil Injection", "provided_by": ["infores:medic"], "synonym": ["Fluorouracil Injection", "氟尿嘧啶注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00750944", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220704", "medic_mention_id": "MEDICNE:ca023747-9a05-5575-b571-aaa579beecca", "medic_reliability": "MEDIUM", "name": "haloperidol Injection", "provided_by": ["infores:medic"], "synonym": ["Haloperidol Injection", "氟哌啶醇注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00750966", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240611", "medic_mention_id": "MEDICNE:fe5cecea-1358-5eb9-8d29-ae2a92d70e09", "medic_reliability": "MEDIUM", "name": "calcitriol Injection", "provided_by": ["infores:medic"], "synonym": ["Calcitriol Injection", "骨化三醇注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751162", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:23544b60-cbe2-5090-b9d1-7c25c401192d", "medic_reliability": "HIGH", "name": "bleomycin Injection", "provided_by": ["infores:medic"], "synonym": ["Bleomycin Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00751175", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20090508", "medic_mention_id": "MEDICNE:9a672030-664c-5d14-a956-3991dfe6fcb1", "medic_reliability": "MEDIUM", "name": "exenatide Injection", "provided_by": ["infores:medic"], "synonym": ["Exenatide Injection", "艾塞那肽注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751185", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220308", "medic_mention_id": "MEDICNE:9c7b5be2-2b5f-5121-9726-a267a79c323a", "medic_reliability": "MEDIUM", "name": "levofloxacin Injection", "provided_by": ["infores:medic"], "synonym": ["Levofloxacin Injection", "左氧氟沙星注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751330", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_mention_id": "MEDICNE:5fb3f054-cef3-55d1-ba25-a5508d34580a", "medic_reliability": "LOW", "name": "fluralaner Chewable Tablet", "provided_by": ["infores:medic"], "synonym": ["Fluralaner chewable tablets"]}
{"category": ["biolink:Drug"], "id": "DRON:00751382", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230526", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:5aaba643-55ec-5b3a-baa3-874cb4ade7e7", "medic_reliability": "MEDIUM", "name": "sodium thiosulfate Injection", "provided_by": ["infores:medic"], "synonym": ["Sodium Thiosulfate Injection", "硫代硫酸钠注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751399", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19940630", "medic_mention_id": "MEDICNE:c19d274f-56c9-5460-897c-f1f72574528b", "medic_reliability": "HIGH", "name": "octreotide Injection", "provided_by": ["infores:medic"], "synonym": ["Octreotide Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00751568", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20221130", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:4d7e3b95-d078-5f88-b1a6-bde0f94c5378", "medic_reliability": "MEDIUM", "name": "magnesium sulfate Injection", "provided_by": ["infores:medic"], "synonym": ["Magnesium Sulfate Injection", "硫酸镁注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751587", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20001106", "medic_mention_id": "MEDICNE:5b381ce8-5483-59f3-9f49-da9383fa81a0", "medic_reliability": "HIGH", "name": "amifostine Injection", "provided_by": ["infores:medic"], "synonym": ["Amifostine Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00751793", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220221", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:23d1f976-37e2-5574-8647-bdebe3f9d720", "medic_reliability": "MEDIUM", "name": "calcium gluconate Injection", "provided_by": ["infores:medic"], "synonym": ["Calcium Gluconate Injection", "葡萄糖酸钙注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751871", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20231228", "medic_mention_id": "MEDICNE:4af5a154-679b-5969-9bb2-bc26abcc6cce", "medic_reliability": "MEDIUM", "name": "famotidine Injection", "provided_by": ["infores:medic"], "synonym": ["Famotidine Injection", "法莫替丁注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751907", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20201229", "medic_mention_id": "MEDICNE:c68b7cd6-e52d-58cf-8fd8-937d99da7476", "medic_reliability": "MEDIUM", "name": "milrinone Injection", "provided_by": ["infores:medic"], "synonym": ["Milrinone Injection", "米力农注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751909", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220420", "medic_mention_id": "MEDICNE:25bb6cb3-88c5-5cd8-98da-109e4f889ec7", "medic_reliability": "MEDIUM", "name": "oxytocin Injection", "provided_by": ["infores:medic"], "synonym": ["Oxytocin Injection", "缩宫素注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00751924", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:5cc28c7c-b9c4-5dd1-b86b-52fe42ffbeea", "medic_reliability": "HIGH", "name": "epirubicin Injection", "provided_by": ["infores:medic"], "synonym": ["Epirubicin Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00752003", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230315", "medic_mention_id": "MEDICNE:91ce0f95-d215-5bb0-8585-1d8c530b0503", "medic_reliability": "MEDIUM", "name": "digoxin Injection", "provided_by": ["infores:medic"], "synonym": ["Digoxin Injection", "地高辛注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752157", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240415", "medic_mention_id": "MEDICNE:dcd878a9-b7fe-5fa4-89f8-60d846932def", "medic_reliability": "MEDIUM", "name": "bumetanide Injection", "provided_by": ["infores:medic"], "synonym": ["Bumetanide Injection", "布美他尼注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752167", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220130", "medic_mention_id": "MEDICNE:d19e1da6-64a4-5f71-8797-32f884109dd2", "medic_reliability": "MEDIUM", "name": "mannitol Injection", "provided_by": ["infores:medic"], "synonym": ["Acetaminophen and Mannitol Injection", "对乙酰氨基酚甘露醇注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752173", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230324", "medic_mention_id": "MEDICNE:96333055-8dbb-5147-9037-31e31ab9e4f9", "medic_reliability": "LOW", "name": "peramivir Injection", "provided_by": ["infores:medic"], "synonym": ["Pramivir Injection", "帕拉米韦注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752214", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19610101", "medic_mention_id": "MEDICNE:d80f57d9-4a66-5fc9-b214-9e528339e141", "medic_reliability": "HIGH", "name": "acetylcysteine Injection", "provided_by": ["infores:medic"], "synonym": ["Acetylcystein Injection", "Acetylcysteine Injection", "乙酰半胱氨酸注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752229", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20211208", "medic_mention_id": "MEDICNE:f8092317-4b24-5cdd-8a0b-7a8273e2bf1c", "medic_reliability": "MEDIUM", "name": "furosemide Injection", "provided_by": ["infores:medic"], "synonym": ["Furosemide Injection", "呋塞米注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752270", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230110", "medic_mention_id": "MEDICNE:1dcc11d2-be5b-5967-9be8-6afde7c5859c", "medic_reliability": "MEDIUM", "name": "adenosine Injection", "provided_by": ["infores:medic"], "synonym": ["Adenosine Injection", "腺苷注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752311", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230404", "medic_mention_id": "MEDICNE:ac61b840-e851-537a-8815-e11e72719d75", "medic_reliability": "MEDIUM", "name": "desmopressin Injection", "provided_by": ["infores:medic"], "synonym": ["Desmopressin Injection", "去氨加压素注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752345", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20211108", "medic_mention_id": "MEDICNE:6bea316b-5204-5b8d-a4fe-37be3353944b", "medic_reliability": "LOW", "name": "torsemide Injection", "provided_by": ["infores:medic"], "synonym": ["Torasemide Injection", "托拉塞米注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00752377", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220830", "medic_mention_id": "MEDICNE:57ddd2ec-2303-5d34-be06-73b35bdb961e", "medic_reliability": "MEDIUM", "name": "aripiprazole Injection", "provided_by": ["infores:medic"], "synonym": ["Aripiprazole Injection", "阿瑞匹坦注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00763759", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220616", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:315b2943-9fe3-5f01-b173-f170e98818e7", "medic_reliability": "MEDIUM", "name": "sodium chloride Injection", "provided_by": ["infores:medic"], "synonym": ["Cefotaxime/Sodium Chloride Injection", "Levetiracetam and Sodium Chloride Injection", "Meropenem/Sodium Chloride Injection", "左乙拉西坦氯化钠注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00763778", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230627", "medic_mention_id": "MEDICNE:46c8d699-2c4c-5ad0-954c-395f5a05e22b", "medic_reliability": "MEDIUM", "name": "clofarabine Injection", "provided_by": ["infores:medic"], "synonym": ["Clofarabine Injection", "氯法拉滨注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00769204", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19971225", "medic_mention_id": "MEDICNE:f897bdfd-f3db-5ee1-90ac-0d434cd7070a", "medic_reliability": "MEDIUM", "name": "docetaxel Injection", "provided_by": ["infores:medic"], "synonym": ["Docetaxel Injection", "多西他赛注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00769208", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20200121", "medic_mention_id": "MEDICNE:33bfd0f7-bc97-57f5-b7f5-698a79128c71", "medic_reliability": "MEDIUM", "name": "theophylline Injection", "provided_by": ["infores:medic"], "synonym": ["Theophylline Injection", "多索茶碱注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00771104", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20070426", "medic_mention_id": "MEDICNE:93c12726-a702-5022-9927-ad9b11e67431", "medic_reliability": "MEDIUM", "name": "zoledronic acid Injection", "provided_by": ["infores:medic"], "synonym": ["Zoledronic Acid Injection", "唑来膦酸注射液"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00771111", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20110803", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5ff7ebde-ef35-5123-b24d-ce644de917e0", "medic_reliability": "HIGH", "name": "Centruroides (scorpion) immune F(ab')2 (equine) Injection", "provided_by": ["infores:medic"], "synonym": ["Centruroides (Scorpion) Immune F(ab')2 (Equine) Injection"]}
{"category": ["biolink:Drug"], "id": "DRON:00771123", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230504", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:a6cbb101-32e4-5a37-ad74-ad968913bb26", "medic_reliability": "MEDIUM", "name": "potassium chloride Injection", "provided_by": ["infores:medic"], "synonym": ["Potassium Chloride Injection", "氯化钾注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00771135", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220830", "medic_mention_id": "MEDICNE:c8663f36-ff8f-5a12-8e7c-18f95925cdcf", "medic_reliability": "MEDIUM", "name": "triptorelin Injection", "provided_by": ["infores:medic"], "synonym": ["Triptorelin Injection", "特利加压素注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00775084", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250321", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:65831c04-59f9-5fe9-8dd7-0b9f0eee70ee", "medic_reliability": "MEDIUM", "name": "calcium chloride Injection", "provided_by": ["infores:medic"], "synonym": ["Calcium Chloride Injection", "氯化钙注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00775089", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20240523", "medic_mention_id": "MEDICNE:5a8d03cf-f927-543f-8bcb-696d3f1e5ebf", "medic_reliability": "MEDIUM", "name": "sodium bicarbonate Injection", "provided_by": ["infores:medic"], "synonym": ["Sodium Bicarbonate Injection", "碳酸氢钠注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00775091", "medic_approved_authorities": ["CDSCO", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:0311a4d5-76a5-513a-bce4-9a418cf2d0b8", "medic_reliability": "HIGH", "name": "nitroglycerin Injection", "provided_by": ["infores:medic"], "synonym": ["Nitroglycerin Injection", "硝酸甘油注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00777569", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19810101", "medic_mention_id": "MEDICNE:a8fc0a09-1deb-56a0-82d3-e603c5e08229", "medic_reliability": "LOW", "name": "famotidine 10 MG/ML Injection", "provided_by": ["infores:medic"], "synonym": ["Famotidine 10mg/ml Injection"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "DRON:00837846", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20150506", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:5cc5d27f-a08e-54c2-8b76-aba4ee2aa173", "medic_reliability": "LOW", "name": "Crotalidae immune F(ab')2", "provided_by": ["infores:medic"], "synonym": ["Crotalidae Immune F(ab')2 (Equine)"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00850352", "medic_stub": true, "name": "argan oil", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "DRON:00865527", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20110314", "medic_mention_id": "MEDICNE:81ab166d-af7f-5c0e-916a-869b8b6d242b", "medic_registration_numbers": ["MOH_RUSSIA:Р N000792/01"], "medic_reliability": "MEDIUM", "name": "Bacillus subtilis", "provided_by": ["infores:medic"], "synonym": ["Bacillus subtilis", "Бациллюс субтилис"], "xref": ["UNII:8CF93KW41W"]}
{"category": ["biolink:ChemicalEntity"], "id": "DRON:00873125", "medic_stub": true, "name": "hydroxyethyl cellulose (5500 MPA.S at 2%)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "DRON:00877808", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20250603", "medic_mention_id": "MEDICNE:ab2b709c-e0d8-5780-b21d-9d4f8d8a2515", "medic_reliability": "MEDIUM", "name": "amisulpride Injection", "provided_by": ["infores:medic"], "synonym": ["Amisulpride Injection", "氨磺必利注射液"]}
{"category": ["biolink:Drug"], "id": "DRON:00942702", "medic_application_numbers": ["212895"], "medic_approved_authorities": ["FDA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia", "usa"], "medic_earliest_approval_date": "20191219", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:9d48d7a2-0923-506b-8e3a-3cebce93298e", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(007069)-(РГ-RU)"], "medic_reliability": "HIGH", "name": "levamlodipine", "provided_by": ["infores:medic"], "synonym": ["LEVAMLODIPINE MALEATE", "Levamlodipine"], "xref": ["CHEMBL.COMPOUND:CHEMBL2111097", "DRUGBANK:DB09237", "DrugCentral:4099", "PHAROS:LXR1A1LH54A9", "PUBCHEM.COMPOUND:9822750", "UNII:0P6NLP6806"]}
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{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001873", "medic_stub": true, "name": "Thrombocytopenia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001878", "medic_stub": true, "name": "Hemolytic anemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001892", "medic_stub": true, "name": "Abnormal bleeding", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001907", "medic_stub": true, "name": "Thromboembolism", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001944", "medic_stub": true, "name": "Dehydration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001945", "medic_stub": true, "name": "Fever", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001947", "medic_stub": true, "name": "Renal tubular acidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001953", "medic_stub": true, "name": "Diabetic ketoacidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001959", "medic_stub": true, "name": "Polydipsia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001987", "medic_stub": true, "name": "Hyperammonemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001993", "medic_stub": true, "name": "Ketoacidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001995", "medic_stub": true, "name": "Hyperchloremic acidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001996", "medic_stub": true, "name": "Chronic metabolic acidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0001997", "medic_stub": true, "name": "Gout", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002013", "medic_stub": true, "name": "Vomiting", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002015", "medic_stub": true, "name": "Dysphagia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002017", "medic_stub": true, "name": "Nausea and vomiting", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002018", "medic_stub": true, "name": "Nausea", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002020", "medic_stub": true, "name": "Gastroesophageal reflux", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002027", "medic_stub": true, "name": "Abdominal pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002039", "medic_stub": true, "name": "Anorexia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002043", "medic_stub": true, "name": "Esophageal stricture", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002061", "medic_stub": true, "name": "Lower limb spasticity", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002063", "medic_stub": true, "name": "Rigidity", "provided_by": ["infores:medic"]}
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{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002076", "medic_stub": true, "name": "Migraine", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002093", "medic_stub": true, "name": "Respiratory insufficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002094", "medic_stub": true, "name": "Dyspnea", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002098", "medic_stub": true, "name": "Respiratory distress", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002121", "medic_stub": true, "name": "Generalized non-motor (absence) seizure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002133", "medic_stub": true, "name": "Status epilepticus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002149", "medic_stub": true, "name": "Hyperuricemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002153", "medic_stub": true, "name": "Hyperkalemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002157", "medic_stub": true, "name": "Azotemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002169", "medic_stub": true, "name": "Clonus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002170", "medic_stub": true, "name": "Intracranial hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002176", "medic_stub": true, "name": "Spinal cord compression", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002181", "medic_stub": true, "name": "Cerebral edema", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002193", "medic_stub": true, "name": "Pseudobulbar affect", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002197", "medic_stub": true, "name": "Generalized-onset seizure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002202", "medic_stub": true, "name": "Pleural effusion", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002239", "medic_stub": true, "name": "Gastrointestinal hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002240", "medic_stub": true, "name": "Hepatomegaly", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002304", "medic_stub": true, "name": "Akinesia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002305", "medic_stub": true, "name": "Athetosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002307", "medic_stub": true, "name": "Drooling", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002315", "medic_stub": true, "name": "Headache", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002321", "medic_stub": true, "name": "Vertigo", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002329", "medic_stub": true, "name": "Drowsiness", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002354", "medic_stub": true, "name": "Memory impairment", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002384", "medic_stub": true, "name": "Focal impaired awareness seizure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002401", "medic_stub": true, "name": "Stroke-like episode", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002486", "medic_stub": true, "name": "Myotonia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002516", "medic_stub": true, "name": "Increased intracranial pressure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002524", "medic_stub": true, "name": "Cataplexy", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002573", "medic_stub": true, "name": "Hematochezia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002586", "medic_stub": true, "name": "Peritonitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002591", "medic_stub": true, "name": "Polyphagia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002595", "medic_stub": true, "name": "Ileus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002607", "medic_stub": true, "name": "Bowel incontinence", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002611", "medic_stub": true, "name": "Cholestatic liver disease", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002619", "medic_stub": true, "name": "Varicose veins", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002625", "medic_stub": true, "name": "Deep venous thrombosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002638", "medic_stub": true, "name": "Superficial thrombophlebitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002653", "medic_stub": true, "name": "Bone pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002666", "medic_stub": true, "name": "Pheochromocytoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002718", "medic_stub": true, "name": "Recurrent bacterial infections", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002720", "medic_stub": true, "name": "Decreased circulating IgA concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002756", "medic_stub": true, "name": "Pathologic fracture", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002781", "medic_stub": true, "name": "Upper airway obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002783", "medic_stub": true, "name": "Recurrent lower respiratory tract infections", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002788", "medic_stub": true, "name": "Recurrent upper respiratory tract infections", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002791", "medic_stub": true, "name": "Hypoventilation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002829", "medic_stub": true, "name": "Arthralgia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002835", "medic_stub": true, "name": "Aspiration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002896", "medic_stub": true, "name": "Neoplasm of the liver", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002901", "medic_stub": true, "name": "Hypocalcemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002902", "medic_stub": true, "name": "Hyponatremia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002910", "medic_stub": true, "name": "Elevated circulating hepatic transaminase concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002917", "medic_stub": true, "name": "Hypomagnesemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0002953", "medic_stub": true, "name": "Vertebral compression fracture", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003073", "medic_stub": true, "name": "Hypoalbuminemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003075", "medic_stub": true, "name": "Hypoproteinemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003124", "medic_stub": true, "name": "Hypercholesterolemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003228", "medic_stub": true, "name": "Hypernatremia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003259", "medic_stub": true, "name": "Elevated circulating creatinine concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003270", "medic_stub": true, "name": "Abdominal distention", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003326", "medic_stub": true, "name": "Myalgia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003394", "medic_stub": true, "name": "Muscle spasm", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003418", "medic_stub": true, "name": "Back pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003419", "medic_stub": true, "name": "Low back pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003510", "medic_stub": true, "name": "Severe short stature", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003571", "medic_stub": true, "name": "Propionic acidemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003765", "medic_stub": true, "name": "Psoriasiform dermatitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003774", "medic_stub": true, "name": "Stage 5 chronic kidney disease", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0003781", "medic_stub": true, "name": "Excessive salivation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004308", "medic_stub": true, "name": "Ventricular arrhythmia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004313", "medic_stub": true, "name": "Decreased circulating immunoglobulin concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004322", "medic_stub": true, "name": "Short stature", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004325", "medic_stub": true, "name": "Decreased body weight", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004326", "medic_stub": true, "name": "Cachexia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004398", "medic_stub": true, "name": "Peptic ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004417", "medic_stub": true, "name": "Intermittent claudication", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004418", "medic_stub": true, "name": "Thrombophlebitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004420", "medic_stub": true, "name": "Arterial thrombosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004754", "medic_stub": true, "name": "Permanent atrial fibrillation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004755", "medic_stub": true, "name": "Supraventricular tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004763", "medic_stub": true, "name": "Paroxysmal supraventricular tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004796", "medic_stub": true, "name": "Gastrointestinal obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004808", "medic_stub": true, "name": "Acute myeloid leukemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004836", "medic_stub": true, "name": "Acute promyelocytic leukemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004900", "medic_stub": true, "name": "Severe lactic acidosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004923", "medic_stub": true, "name": "Hyperphenylalaninemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0004936", "medic_stub": true, "name": "Venous thrombosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005086", "medic_stub": true, "name": "Knee osteoarthritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005162", "medic_stub": true, "name": "Abnormal left ventricular function", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005184", "medic_stub": true, "name": "Prolonged QTc interval", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005202", "medic_stub": true, "name": "Helicobacter pylori infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005214", "medic_stub": true, "name": "Intestinal obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005261", "medic_stub": true, "name": "Joint hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005305", "medic_stub": true, "name": "Cerebral venous thrombosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005310", "medic_stub": true, "name": "Large vessel vasculitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005363", "medic_stub": true, "name": "Humoral immunodeficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005506", "medic_stub": true, "name": "Chronic myelogenous leukemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005550", "medic_stub": true, "name": "Chronic lymphatic leukemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0005681", "medic_stub": true, "name": "Juvenile rheumatoid arthritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006089", "medic_stub": true, "name": "Palmar hyperhidrosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006528", "medic_stub": true, "name": "Chronic lung disease", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006536", "medic_stub": true, "name": "Airway obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006554", "medic_stub": true, "name": "Acute hepatic failure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006682", "medic_stub": true, "name": "Premature ventricular contraction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006688", "medic_stub": true, "name": "Paroxysmal tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006740", "medic_stub": true, "name": "Transitional cell carcinoma of the bladder", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006775", "medic_stub": true, "name": "Multiple myeloma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0006986", "medic_stub": true, "name": "Upper limb spasticity", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0007018", "medic_stub": true, "name": "Attention deficit hyperactivity disorder", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0007185", "medic_stub": true, "name": "Loss of consciousness", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0007334", "medic_stub": true, "name": "Bilateral tonic-clonic seizure with focal onset", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0007359", "medic_stub": true, "name": "Focal-onset seizure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0007906", "medic_stub": true, "name": "Ocular hypertension", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008258", "medic_stub": true, "name": "Congenital adrenal hyperplasia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008281", "medic_stub": true, "name": "Acute hyperammonemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008326", "medic_stub": true, "name": "Reduced circulating vitamin B6 circulating", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008419", "medic_stub": true, "name": "Intervertebral disk degeneration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008443", "medic_stub": true, "name": "Neuropathic spinal arthropathy", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0008843", "medic_stub": true, "name": "Hip osteoarthritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0009725", "medic_stub": true, "name": "Bladder neoplasm", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0009926", "medic_stub": true, "name": "Epiphora", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0009937", "medic_stub": true, "name": "Facial hirsutism", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0010310", "medic_stub": true, "name": "Chylothorax", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0010562", "medic_stub": true, "name": "Keloids", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0010783", "medic_stub": true, "name": "Erythema", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0010931", "medic_stub": true, "name": "Abnormal circulating sodium concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0010992", "medic_stub": true, "name": "Stress urinary incontinence", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011009", "medic_stub": true, "name": "Acute", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011029", "medic_stub": true, "name": "Internal hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011106", "medic_stub": true, "name": "Hypovolemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011147", "medic_stub": true, "name": "Typical absence seizure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011450", "medic_stub": true, "name": "Unusual CNS infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011499", "medic_stub": true, "name": "Mydriasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011675", "medic_stub": true, "name": "Arrhythmia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011703", "medic_stub": true, "name": "Sinus tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011704", "medic_stub": true, "name": "Sick sinus syndrome", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011717", "medic_stub": true, "name": "Atrioventricular reentrant tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011772", "medic_stub": true, "name": "Abnormal thyroid morphology", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011947", "medic_stub": true, "name": "Respiratory tract infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011967", "medic_stub": true, "name": "Decreased circulating copper concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011971", "medic_stub": true, "name": "Dermatographic urticaria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011986", "medic_stub": true, "name": "Ectopic ossification", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0011998", "medic_stub": true, "name": "Postprandial hyperglycemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012028", "medic_stub": true, "name": "Hepatocellular adenoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012109", "medic_stub": true, "name": "Angle closure glaucoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012120", "medic_stub": true, "name": "Methylmalonic aciduria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012125", "medic_stub": true, "name": "Prostate cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012193", "medic_stub": true, "name": "Anaplastic large-cell lymphoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012203", "medic_stub": true, "name": "Unusual fungal nail infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012204", "medic_stub": true, "name": "Recurrent vulvovaginal candidiasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012211", "medic_stub": true, "name": "Abnormal renal physiology", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012213", "medic_stub": true, "name": "Decreased glomerular filtration rate", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012325", "medic_stub": true, "name": "Chronic myelomonocytic leukemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012378", "medic_stub": true, "name": "Fatigue", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012388", "medic_stub": true, "name": "Acute bronchitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012390", "medic_stub": true, "name": "Anal fissure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012416", "medic_stub": true, "name": "Hypercapnia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012450", "medic_stub": true, "name": "Chronic constipation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012531", "medic_stub": true, "name": "Pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012532", "medic_stub": true, "name": "Chronic pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012539", "medic_stub": true, "name": "Non-Hodgkin lymphoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012701", "medic_stub": true, "name": "Bowel urgency", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012722", "medic_stub": true, "name": "Heart block", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0012735", "medic_stub": true, "name": "Cough", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0020071", "medic_stub": true, "name": "Viremia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0020174", "medic_stub": true, "name": "Refractory drug response", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025003", "medic_stub": true, "name": "Flail chest", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025116", "medic_stub": true, "name": "Fetal distress", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025143", "medic_stub": true, "name": "Chills", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025169", "medic_stub": true, "name": "Left ventricular systolic dysfunction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025190", "medic_stub": true, "name": "Bilateral tonic-clonic seizure with generalized onset", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025337", "medic_stub": true, "name": "Red eye", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025439", "medic_stub": true, "name": "Pharyngitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025497", "medic_stub": true, "name": "Coronary artery spasm", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025502", "medic_stub": true, "name": "Overweight", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025560", "medic_stub": true, "name": "Anterior chamber cells", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025636", "medic_stub": true, "name": "Endometritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0025650", "medic_stub": true, "name": "Steroid-dependent nephrotic syndrome", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030016", "medic_stub": true, "name": "Dyspareunia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030149", "medic_stub": true, "name": "Cardiogenic shock", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030153", "medic_stub": true, "name": "Cholangiocarcinoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030404", "medic_stub": true, "name": "Glucagonoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030769", "medic_stub": true, "name": "Exencephaly", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030828", "medic_stub": true, "name": "Wheezing", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030833", "medic_stub": true, "name": "Neck pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030834", "medic_stub": true, "name": "Shoulder pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030878", "medic_stub": true, "name": "Abnormality on pulmonary function testing", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0030955", "medic_stub": true, "name": "Addictive alcohol use", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031057", "medic_stub": true, "name": "Skin fissure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031088", "medic_stub": true, "name": "Vaginal dryness", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031245", "medic_stub": true, "name": "Productive cough", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031246", "medic_stub": true, "name": "Nonproductive cough", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031273", "medic_stub": true, "name": "Shock", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031274", "medic_stub": true, "name": "Hypovolemic shock", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031275", "medic_stub": true, "name": "Distributive shock", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031284", "medic_stub": true, "name": "Flushing", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031352", "medic_stub": true, "name": "Chest tightness", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031354", "medic_stub": true, "name": "Sleep onset insomnia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031368", "medic_stub": true, "name": "Intestinal perforation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031417", "medic_stub": true, "name": "Rhinorrhea", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031589", "medic_stub": true, "name": "Suicidal ideation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031609", "medic_stub": true, "name": "Macular geographic atrophy", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031842", "medic_stub": true, "name": "Lymphangiectasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031864", "medic_stub": true, "name": "Bacteremia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031917", "medic_stub": true, "name": "Digital ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0031972", "medic_stub": true, "name": "Presyncope", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032149", "medic_stub": true, "name": "Breakthrough pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032157", "medic_stub": true, "name": "Recurrent genital herpes", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032250", "medic_stub": true, "name": "Acinetobacter infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032256", "medic_stub": true, "name": "Unusual Histoplasma capsulatum infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032282", "medic_stub": true, "name": "Contact dermatitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032301", "medic_stub": true, "name": "Genital warts", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0032547", "medic_stub": true, "name": "Low intraocular pressure", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033005", "medic_stub": true, "name": "Plantar warts", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033031", "medic_stub": true, "name": "Hyperpyrexia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033047", "medic_stub": true, "name": "Body ache", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033120", "medic_stub": true, "name": "Nummular eczema", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033125", "medic_stub": true, "name": "Follicular lymphoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033134", "medic_stub": true, "name": "Abdominal adhesions", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033188", "medic_stub": true, "name": "Cystic acne", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033279", "medic_stub": true, "name": "Enterocutaneous fistula", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033349", "medic_stub": true, "name": "Seizure cluster", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033351", "medic_stub": true, "name": "Candida esophagitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033404", "medic_stub": true, "name": "Intestinal ischemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033515", "medic_stub": true, "name": "Addictive opioid use", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033516", "medic_stub": true, "name": "Addictive benzodiazepine use", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033540", "medic_stub": true, "name": "Reversible airflow obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033589", "medic_stub": true, "name": "Flatulence", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033630", "medic_stub": true, "name": "Brain fog", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033841", "medic_stub": true, "name": "Ocular pruritus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0033843", "medic_stub": true, "name": "Postprandial fullness", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0034192", "medic_stub": true, "name": "Pulmonary thromboembolism", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0034267", "medic_stub": true, "name": "Pelvic pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0034315", "medic_stub": true, "name": "Chronic cough", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0034323", "medic_stub": true, "name": "Reduced circulating growth hormone concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0034493", "medic_stub": true, "name": "Tubo-ovarian abscess", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040049", "medic_stub": true, "name": "Macular edema", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040181", "medic_stub": true, "name": "Chapped lip", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040184", "medic_stub": true, "name": "Oral bleeding", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040189", "medic_stub": true, "name": "Scaling skin", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040289", "medic_stub": true, "name": "Cyclically decreased total neutrophil count", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0040313", "medic_stub": true, "name": "Oligoarthritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100034", "medic_stub": true, "name": "Motor tics", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100035", "medic_stub": true, "name": "Phonic tics", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100245", "medic_stub": true, "name": "Gastrointestinal desmoid tumor", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100248", "medic_stub": true, "name": "Hemiballismus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100497", "medic_stub": true, "name": "Decreased circulating vitamin B3 concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100507", "medic_stub": true, "name": "Decreased circulating folate concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100513", "medic_stub": true, "name": "Decreased circulating vitamin E concentration", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100518", "medic_stub": true, "name": "Dysuria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100519", "medic_stub": true, "name": "Anuria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100520", "medic_stub": true, "name": "Oliguria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100523", "medic_stub": true, "name": "Liver abscess", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100533", "medic_stub": true, "name": "Inflammatory abnormality of the eye", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100534", "medic_stub": true, "name": "Episcleritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100601", "medic_stub": true, "name": "Eclampsia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100602", "medic_stub": true, "name": "Preeclampsia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100603", "medic_stub": true, "name": "Toxemia of pregnancy", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100607", "medic_stub": true, "name": "Dysmenorrhea", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100651", "medic_stub": true, "name": "Type I diabetes mellitus", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100653", "medic_stub": true, "name": "Optic neuritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100699", "medic_stub": true, "name": "Scarring", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100723", "medic_stub": true, "name": "Gastrointestinal stroma tumor", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100735", "medic_stub": true, "name": "Hypertensive crisis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100739", "medic_stub": true, "name": "Bulimia", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100750", "medic_stub": true, "name": "Atelectasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100754", "medic_stub": true, "name": "Mania", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100806", "medic_stub": true, "name": "Sepsis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100812", "medic_stub": true, "name": "Halitosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0100845", "medic_stub": true, "name": "Anaphylactic shock", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0200026", "medic_stub": true, "name": "Ocular pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0200119", "medic_stub": true, "name": "Acute hepatitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0410028", "medic_stub": true, "name": "Recurrent oral herpes", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0410133", "medic_stub": true, "name": "Chronic urticaria", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:0410328", "medic_stub": true, "name": "Egg allergy", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:4000004", "medic_stub": true, "name": "Myocardial late gadolinium enhancement", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:4000007", "medic_stub": true, "name": "Bronchoconstriction", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210065", "medic_stub": true, "name": "Severe Neisseria gonorrhoeae infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210068", "medic_stub": true, "name": "Severe Neisseria meningitidis infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210107", "medic_stub": true, "name": "Disseminated Cryptococcus infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210115", "medic_stub": true, "name": "Non-tuberculous mycobacterial infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210158", "medic_stub": true, "name": "Recurrent pericarditis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210217", "medic_stub": true, "name": "Bacterial meningitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210262", "medic_stub": true, "name": "Severe keratitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210282", "medic_stub": true, "name": "Cytomegalovirus retinitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210371", "medic_stub": true, "name": "Pulmonary cryptococcosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:5210421", "medic_stub": true, "name": "Autoimmune hepatitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000011", "medic_stub": true, "name": "Guilt", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000040", "medic_stub": true, "name": "Neuropathic pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000054", "medic_stub": true, "name": "Multiparity", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000329", "medic_stub": true, "name": "Umbilical cord prolapse", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000383", "medic_stub": true, "name": "Gastric perforation", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6000793", "medic_stub": true, "name": "Eschar", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6001078", "medic_stub": true, "name": "Malignant pleural effusion", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6001283", "medic_stub": true, "name": "Severe Candida infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:PhenotypicFeature"], "id": "HP:6001302", "medic_stub": true, "name": "Aphakia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000001", "medic_stub": true, "name": "disease", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).", "id": "MONDO:0000004", "name": "Adrenocortical insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adrenal cortical hypofunction", "adrenal cortical insufficiency", "adrenal gland insufficiency", "adrenal insufficiency", "adrenocortical insufficiency", "hypocortisolemia", "hypocortisolism"], "xref": ["DOID:10493", "EFO:0009491", "ICD9:255.4", "ICD9:255.41", "MEDGEN:589758", "MESH:D000309", "NCIT:C26691", "SCTID:386584007", "UMLS:C0405580", "icd11.foundation:733056203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000005", "name": "Alopecia, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:203655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000009", "name": "Inherited bleeding disorder, platelet-type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bleeding disorder, platelet-type"], "xref": ["DOID:2218", "GARD:0022702", "MEDGEN:610", "OMIMPS:231200", "UMLS:C0005818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000014", "name": "Colorblindness, partial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.", "id": "MONDO:0000015", "name": "Classic complement early component deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["genetic deficiency of early component of the classical complement pathway"], "xref": ["GARD:0009526", "ICD9:279.8", "MEDGEN:226929", "SCTID:363009005", "UMLS:C1285186"]}
{"category": ["biolink:Disease"], "description": "Urination during sleep.", "id": "MONDO:0000022", "name": "Nocturnal enuresis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bedwetting", "enuresis, nocturnal", "sleep enuresis"], "xref": ["MEDGEN:124355", "MESH:D053206", "NCIT:C118172", "UMLS:C0270327", "icd11.foundation:1048673005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000023", "name": "Infantile liver failure", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fever-associated acute infantile liver failure syndrome", "infantile liver failure syndrome", "liver failure, infantile"], "xref": ["DOID:0080716", "GARD:0017820", "MEDGEN:1813021", "OMIMPS:615438", "Orphanet:464724", "UMLS:C5681094"]}
{"category": ["biolink:Disease"], "description": "An instance of sleep-related hypermotor epilepsy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0000030", "name": "Familial sleep-related hypermotor epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADNFLE", "autosomal dominant nocturnal frontal lobe epilepsy", "epilepsy, nocturnal frontal lobe, familial", "familial sleep-related hyperkinetic epilepsy", "familial sleep-related hypermotor epilepsy", "famillial SHE"], "xref": ["DOID:0060681", "GARD:0022703", "MEDGEN:1865268", "MESH:C579932", "OMIMPS:600513", "Orphanet:98784", "SCTID:698021005", "UMLS:C5577629", "icd11.foundation:1004734747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000032", "name": "Febrile seizures, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["seizures, familial febrile"], "xref": ["DOID:0111297", "OMIMPS:121210"]}
{"category": ["biolink:Disease"], "description": "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.", "id": "MONDO:0000044", "name": "Hereditary hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hypophosphatemic rickets"], "xref": ["GARD:0006735", "MedDRA:10060873", "OMIMPS:193100", "Orphanet:437", "icd11.foundation:1010293846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000045", "name": "Hypothyroidism, congenital, nongoitrous", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022704", "OMIMPS:275200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000050", "name": "Isolated congenital growth hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ICGHD", "congenital IGHD", "congenital isolated GH deficiency", "congenital isolated growth hormone deficiency", "isolated growth hormone deficiency"], "xref": ["DOID:0060870", "GARD:0012556", "MEDGEN:1843308", "MedDRA:10035083", "NANDO:2200317", "OMIMPS:262400", "Orphanet:631", "SCTID:2109003", "UMLS:C5679572", "icd11.foundation:936501166"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000060", "name": "Microcephalic osteodysplastic primordial dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022705"]}
{"category": ["biolink:Disease"], "description": "A microphthalmia that is not part of a larger syndrome.", "id": "MONDO:0000062", "name": "Isolated microphthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["microphthalmia, isolated", "nonsyndromic microphthalmia"], "xref": ["DOID:0080637", "OMIMPS:251600"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.", "id": "MONDO:0000066", "name": "Mitochondrial respiratory chain complex deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["isolated oxidative phosphorylation complex disorder", "mitochondrial complex deficiency"], "xref": ["GARD:0022706", "MEDGEN:1843270", "Orphanet:254846", "UMLS:C5679632"]}
{"category": ["biolink:Disease"], "description": "A common presentation of craniosynostosis and polysyndactyly.", "id": "MONDO:0000078", "name": "Acrocephalopolysyndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ACPS"], "xref": ["GARD:0022707", "MEDGEN:673840", "SCTID:205260006", "UMLS:C0687154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000079", "name": "Nephrolithiasis/osteoporosis, hypophosphatemic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080655", "GARD:0022708", "OMIMPS:612286"]}
{"category": ["biolink:Disease"], "description": "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.", "id": "MONDO:0000082", "name": "Pelvic organ prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004710", "MEDGEN:209090", "MESH:D056887", "SCTID:237113009", "UMLS:C0877015", "icd11.foundation:148580117"]}
{"category": ["biolink:Disease"], "description": "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.", "id": "MONDO:0000087", "name": "Polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080918", "GARD:0018818", "MEDGEN:78605", "MESH:D065706", "NANDO:1201071", "NCIT:C116936", "Orphanet:35981", "SCTID:4945003", "UMLS:C0266464", "icd11.foundation:2081858551"]}
{"category": ["biolink:Disease"], "description": "Unusually early sexual maturity.", "id": "MONDO:0000088", "name": "Precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["pubertas praecox", "sexual precocity"], "xref": ["HP:0000826", "ICD10CM:E30.1", "ICD9:259.1", "MEDGEN:18752", "MESH:D011629", "MedDRA:10044701", "MedDRA:10058084", "NANDO:2100135", "NCIT:C79704", "Orphanet:95708", "SCTID:400179000", "UMLS:C0034013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000090", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["progressive external ophthalmoplegia with mtDNA deletions"], "xref": ["GARD:0022709", "OMIMPS:157640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000104", "name": "Anemia, hypochromic microcytic with iron overload", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anemia, hypochromic microcytic, with iron overload"], "xref": ["GARD:0022710", "MEDGEN:388759", "MESH:C567144", "OMIMPS:206100", "UMLS:C2673913"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000105", "name": "Anemia, nonspherocytic hemolytic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["GARD:0022711", "MEDGEN:871250", "UMLS:C4025735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000106", "medic_stub": true, "name": "obsolete apnea", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.", "id": "MONDO:0000107", "name": "Auriculocondylar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["auriculo-condylar syndrome", "question mark ear syndrome"], "xref": ["GARD:0009798", "MEDGEN:355953", "MESH:C538270", "OMIMPS:602483", "Orphanet:137888", "SCTID:702443003", "UMLS:C1865295", "icd11.foundation:1545895796"]}
{"category": ["biolink:Disease"], "description": "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.", "id": "MONDO:0000110", "name": "Bifid nose", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000884", "MEDGEN:66379", "MESH:C535441", "Orphanet:2695", "UMLS:C0221363", "icd11.foundation:1824850646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000111", "name": "Camptodactyly syndrome, guadalajara", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000114", "name": "Cerebelloparenchymal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.", "id": "MONDO:0000115", "name": "Chiari malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["(Arnold) Chiari malformation", "Arnold-Chiari malformation", "Chiari malformation"], "xref": ["GARD:0027515", "MEDGEN:2065", "MESH:D001139", "NCIT:C84570", "SCTID:253184003", "UMLS:C0003803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000118", "name": "Reticulate pigment disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["reticulate pigment disorders"], "xref": ["GARD:0022712", "OMIMPS:179850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000119", "name": "Congenital heart defects, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'').", "id": "MONDO:0000127", "name": "Geleophysic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["geleophysic dwarfism"], "xref": ["DOID:0111724", "GARD:0002449", "ICD9:759.89", "MEDGEN:483679", "MedDRA:10063361", "OMIMPS:231050", "Orphanet:2623", "SCTID:28557005", "UMLS:C3489726", "icd11.foundation:518828851"]}
{"category": ["biolink:Disease"], "description": "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.", "id": "MONDO:0000128", "name": "Giant axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022713", "ICD9:349.89", "MEDGEN:1684765", "MESH:D056768", "NCIT:C84728", "NORD:1182", "OMIMPS:256850", "SCTID:128207002", "UMLS:C5200933", "icd11.foundation:1848636316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000129", "name": "Glutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glutaric acidemia", "glutaric aciduria", "glutaric aciduria (disease)"], "xref": ["HP:0003150", "HP:0003530", "ICD9:270.8", "MEDGEN:75695", "SCTID:28987007", "UMLS:C0268594"]}
{"category": ["biolink:Disease"], "description": "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.", "id": "MONDO:0000133", "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency-centromeric instability-facial anomalies", "immunodeficiency-centromeric instability-facial anomalies syndrome"], "xref": ["DOID:0090007", "GARD:0002945", "MEDGEN:140770", "MESH:C537362", "NANDO:1200334", "NANDO:2200708", "OMIMPS:242860", "Orphanet:2268", "SCTID:234633000", "UMLS:C0398788"]}
{"category": ["biolink:Disease"], "description": "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.", "id": "MONDO:0000136", "name": "Keratosis follicularis spinulosa decalvans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["keratosis pilaris decalvans"], "xref": ["DOID:0080753", "GARD:0006829", "ICD9:757.39", "MEDGEN:83355", "NORD:1288", "Orphanet:2340", "SCTID:238626006", "UMLS:C0343057", "icd11.foundation:303213910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000137", "name": "Leukoencephalopathy, megalencephalic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["OMIMPS:604004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000138", "name": "Metaphyseal chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia (disease)"], "xref": ["GARD:0022714", "HP:0005871", "MEDGEN:120528", "SCTID:28681006", "UMLS:C0265290"]}
{"category": ["biolink:Disease"], "description": "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.", "id": "MONDO:0000141", "name": "Mosaic variegated aneuploidy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Warburton-Anyane-Yeboa syndrome"], "xref": ["DOID:0080688", "GARD:0003007", "ICD9:758.89", "MEDGEN:1641418", "MESH:C536987", "OMIMPS:257300", "Orphanet:1052", "SCTID:700056005", "UMLS:C4551972", "icd11.foundation:398235351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000147", "name": "Polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["multiple polyps", "polyposis"], "xref": ["MEDGEN:137722", "NANDO:2100257", "NCIT:C4089", "UMLS:C0334108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000148", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022715", "OMIMPS:614742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000151", "name": "Symphalangism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1846284", "SCTID:253975004", "UMLS:C5848178"]}
{"category": ["biolink:Disease"], "description": "A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.", "id": "MONDO:0000152", "name": "Thiamine-responsive dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["thiamine-responsive dysfunction syndrome"], "xref": ["GARD:0022716", "OMIMPS:249270"]}
{"category": ["biolink:Disease"], "description": "A congenital cardiac defect in which two heart vessels are reversed (transposed).", "id": "MONDO:0000153", "name": "Transposition of the great arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TGA", "TGV", "complete transposition", "great vessels transposition", "transposition of great vessels", "transposition of the great vessels"], "xref": ["GARD:0007795", "MEDGEN:21245", "MESH:D014188", "NANDO:2200258", "NCIT:C84742", "Orphanet:216675", "UMLS:C0040761", "icd11.foundation:429190257"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.", "id": "MONDO:0000155", "name": "Triglyceride storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inborn error of sequestering of triglyceride", "inborn sequestering of triglyceride disorder", "rare inborn error of sequestering of triglyceride"], "xref": ["GARD:0022717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000156", "name": "Trigonocephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["trigonocephaly"], "xref": ["GARD:0022718", "MEDGEN:82713", "SCTID:28740008", "UMLS:C0265535", "icd11.foundation:20816218"]}
{"category": ["biolink:Disease"], "description": "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.", "id": "MONDO:0000158", "name": "Developmental dysplasia of the hip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital hip dysplasia"], "xref": ["DOID:0060930", "EFO:1000648", "ICD9:755.63", "MEDGEN:1640560", "MESH:D000082602", "OMIMPS:142700", "SCTID:52781008", "UMLS:C4551649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000159", "name": "Bone marrow failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022719", "MEDGEN:419754", "MESH:C536572", "NCIT:C165614", "OMIMPS:614675", "UMLS:C2931245"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.", "id": "MONDO:0000160", "name": "Epilepsy, familial adult myoclonic", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111689", "GARD:0022720", "OMIMPS:601068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000166", "name": "Encephalopathy, acute, infection-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:610551"]}
{"category": ["biolink:Disease"], "description": "A grouping for Huntington disease and similar diseases.", "id": "MONDO:0000167", "name": "Huntington disease and related disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0022721"]}
{"category": ["biolink:Disease"], "description": "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.", "id": "MONDO:0000170", "name": "Microphthalmia, isolated, with coloboma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAC", "colobomatous microphthalmia", "microphthalmia with colobomatous cyst", "microphthalmia-anophthalmia-coloboma syndrome"], "xref": ["GARD:0003644", "MEDGEN:444071", "MESH:C537463", "OMIMPS:300345", "Orphanet:98938", "UMLS:C2931500", "icd11.foundation:1208828500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000171", "name": "Muscular dystrophy-dystroglycanopathy, type a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WWS", "Walker-Warburg muscular dystrophy", "Walker-Warburg syndrome", "hard syndrome", "hydrocephalus-agyria-retinal dysplasia syndrome"], "xref": ["DOID:0050560", "GARD:0002599", "MEDGEN:75553", "MESH:D058494", "NCIT:C99109", "OMIMPS:236670", "Orphanet:899", "SCTID:111504002", "UMLS:C0265221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000172", "name": "Muscular dystrophy-dystroglycanopathy, type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112375", "GARD:0012589", "OMIMPS:613155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000173", "name": "Muscular dystrophy-dystroglycanopathy, type c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022722", "OMIMPS:609308"]}
{"category": ["biolink:Disease"], "description": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.", "id": "MONDO:0000179", "name": "Neu-laxova syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000102", "ICD9:759.89", "MEDGEN:78537", "MESH:C536405", "OMIMPS:256520", "Orphanet:2671", "SCTID:77817004", "UMLS:C0265218", "icd11.foundation:893358230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000181", "name": "Microcephaly and chorioretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003611", "OMIMPS:251270"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.", "id": "MONDO:0000182", "name": "Congenital myasthenic syndrome with tubular aggregates", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS-TA", "myasthenic syndrome, congenital, with tubular aggregates"], "xref": ["GARD:0022723", "OMIMPS:610542"]}
{"category": ["biolink:Disease"], "description": "An epileptic encephalopathy resulting from impaired glucose transport into the brain.", "id": "MONDO:0000188", "name": "Glut1 deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GLUT1 deficiency syndrome", "GLUT1DS"], "xref": ["DOID:0070560", "GARD:0022724", "MEDGEN:337833", "NANDO:1200799", "OMIMPS:606777", "UMLS:C1847501"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)", "id": "MONDO:0000190", "name": "Ventricular fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["VF", "VFib", "fibrillation, ventricular", "ventricular fibrillation", "ventricular fibrillation (disease)"], "xref": ["EFO:0004287", "HP:0001663", "ICD10CM:I49.01", "ICD9:427.41", "MEDGEN:21844", "MESH:D014693", "NANDO:2100052", "NANDO:2200227", "NCIT:C50799", "SCTID:71908006", "UMLS:C0042510", "icd11.foundation:1662472992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000192", "name": "Polyglucosan body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022725", "OMIMPS:615895"]}
{"category": ["biolink:Disease"], "description": "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.", "id": "MONDO:0000193", "name": "Cortisone reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["11-beta-hydroxysteroid dehydrogenase deficiency type 1", "deficiency of (R)-20-hydroxysteroid dehydrogenase", "deficiency of cortisone reductase", "hyperandrogenism due to cortisone reductase deficiency"], "xref": ["DOID:0090139", "GARD:0009882", "ICD9:277.6", "MEDGEN:266223", "MESH:C536447", "OMIMPS:604931", "Orphanet:168588", "SCTID:124138004", "UMLS:C1291245"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.", "id": "MONDO:0000200", "name": "Zimmermann-laband syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Laband syndrome", "ZLS", "Zimmerman Laband syndrome", "Zimmermann-Laband syndrome type 1", "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome"], "xref": ["GARD:0000385", "ICD9:759.89", "MEDGEN:208656", "MESH:C536725", "OMIMPS:135500", "Orphanet:3473", "SCTID:699447001", "UMLS:C0796013", "icd11.foundation:8285962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000208", "name": "Microcephaly, short stature, and impaired glucose metabolism 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MSSGM1", "microcephaly, short stature, and impaired glucose metabolism 1"], "xref": ["GARD:0018459", "MEDGEN:863434", "OMIM:616033", "UMLS:C4014997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000209", "name": "Prenatal-onset spinal muscular atrophy with congenital bone fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMABF", "spinal muscular atrophy with congenital bone fractures"], "xref": ["GARD:0017882", "MEDGEN:1798941", "OMIMPS:616866", "Orphanet:486811", "UMLS:C5567518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000210", "name": "Thiopurine metabolic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0022726", "MEDGEN:419361", "OMIMPS:610460", "UMLS:C2931223"]}
{"category": ["biolink:Disease"], "description": "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.", "id": "MONDO:0000211", "name": "Striatal degeneration, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADSD", "autosomal dominant striatal neurodegeneration"], "xref": ["GARD:0017146", "MEDGEN:322971", "MESH:C563783", "OMIMPS:609161", "Orphanet:228169", "UMLS:C1836694"]}
{"category": ["biolink:Disease"], "description": "A hypercalcemia disease that occurs between 28 days to one year of life.", "id": "MONDO:0000212", "name": "Hypercalcemia, infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["autosomal recessive hypercalcemia, infantile", "autosomal recessive infantile hypercalcemia", "familial infantile hypercalcemia with suppressed intact parathyroid hormone", "hypercalcemia disease of infancy", "hypercalcemia, idiopathic, of infancy", "hypercalcemia, infantile", "hypercalcemia, infantile, autosomal recessive", "idiopathic infantile hypercalcemia", "infantile hypercalcemia", "infantile hypercalcemia disease", "infantile onset hypercalcemia disease"], "xref": ["GARD:0017374", "MEDGEN:1380840", "MESH:C562999", "NCIT:C129734", "OMIMPS:143880", "Orphanet:300547", "SCTID:276645004", "SCTID:34225008", "UMLS:C4329374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000213", "name": "Autoimmune disease, multisystem, infantile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061159", "OMIMPS:615952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000214", "name": "Hypermanganesemia with dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080535", "GARD:0022727", "MEDGEN:1632594", "OMIMPS:613280", "SCTID:768553002", "UMLS:C4708509"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal seminal vesiculitis.", "id": "MONDO:0000222", "name": "Seminal vesicle acute gonorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gonococcal seminal vesiculitis", "gonococcal seminal vesiculitis, acute"], "xref": ["DOID:0050004", "MEDGEN:509196", "SCTID:65049003", "UMLS:C0153194", "icd11.foundation:477968215"]}
{"category": ["biolink:Disease"], "description": "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.", "id": "MONDO:0000224", "name": "Acquired carbohydrate metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0050013"]}
{"category": ["biolink:Disease"], "description": "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.", "id": "MONDO:0000225", "name": "Human monocytic ehrlichiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Human Monocytic Ehrlichiosis (HME)", "human ehrlichiosis due to Ehrlichia chaffeensis"], "xref": ["DOID:0050026", "GARD:0000072", "ICD9:082.41", "MEDGEN:1826179", "NORD:1254", "SCTID:359747000", "UMLS:C3844799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000226", "name": "Mineral metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of mineral metabolism", "disorder of mineral metabolism"], "xref": ["EFO:0009556", "ICD10CM:E83", "ICD9:275.8", "ICD9:275.9", "MEDGEN:509562", "SCTID:45744005", "UMLS:C0154260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000227", "name": "African tick-bite fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050035", "GARD:0022728", "MEDGEN:728968", "SCTID:415561000", "UMLS:C1320317"]}
{"category": ["biolink:Disease"], "description": "An infectious disease caused by infection with rickettsia conorii subsp. coronorii.", "id": "MONDO:0000229", "name": "Indian tick typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050042", "GARD:0022729", "MEDGEN:1843392", "Orphanet:101335", "UMLS:C0343768"]}
{"category": ["biolink:Disease"], "description": "An infectious disease caused by infection with rickettsia conorii subsp. israelensis.", "id": "MONDO:0000230", "name": "Israeli tick typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050043", "GARD:0022730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000231", "name": "Far eastern spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050046", "GARD:0022731", "MEDGEN:759467", "SCTID:472822008", "UMLS:C3532354"]}
{"category": ["biolink:Disease"], "description": "A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.", "id": "MONDO:0000232", "name": "Flinders island spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050047", "GARD:0022732", "MEDGEN:1375989", "UMLS:C4505102"]}
{"category": ["biolink:Disease"], "description": "A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.", "id": "MONDO:0000233", "name": "Japanese spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Japanese spotted fever"], "xref": ["DOID:0050050", "GARD:0022733", "MEDGEN:1371298", "UMLS:C2108396"]}
{"category": ["biolink:Disease"], "description": "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.", "id": "MONDO:0000234", "name": "Rickettsia parkeri spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050051", "GARD:0022734"]}
{"category": ["biolink:Disease"], "description": "A anthrax infection that involves the oropharynx.", "id": "MONDO:0000236", "name": "Oropharyngeal anthrax", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["oropharynx anthrax infection"], "xref": ["DOID:0050059", "GARD:0027516"]}
{"category": ["biolink:Disease"], "description": "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).", "id": "MONDO:0000239", "name": "Adiaspiromycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adiaspiromycosis", "adiaspirosis", "haplosporangiosis", "pulmonary adiaspiromycosis"], "xref": ["DOID:0050072", "ICD9:117.9", "MEDGEN:537148", "MESH:C000656784", "SCTID:23892008", "UMLS:C0259737"]}
{"category": ["biolink:Disease"], "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "id": "MONDO:0000240", "name": "Invasive aspergillosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050073", "GARD:0022735", "MEDGEN:922866", "SCTID:721798004", "UMLS:C0238013", "icd11.foundation:1314810340"]}
{"category": ["biolink:Disease"], "description": "A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.", "id": "MONDO:0000241", "name": "Keshan disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050083", "GARD:0008761", "ICD9:269.3", "MEDGEN:78639", "MESH:C536166", "SCTID:46939000", "UMLS:C0268095", "icd11.foundation:1307765114"]}
{"category": ["biolink:Disease"], "description": "A dermatophytosis that involves the beard.", "id": "MONDO:0000242", "name": "Tinea barbae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["beard dermatophytosis", "dermatophytosis of beard"], "xref": ["DOID:0050096", "MEDGEN:748519", "MESH:C000656825", "SCTID:399329002", "UMLS:C2349994", "icd11.foundation:1201486458"]}
{"category": ["biolink:Disease"], "description": "A dermatophyte infection of the hair that infects the hair surface.", "id": "MONDO:0000243", "name": "Ectothrix infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050097"]}
{"category": ["biolink:Disease"], "description": "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.", "id": "MONDO:0000244", "name": "Endothrix infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050105"]}
{"category": ["biolink:Disease"], "description": "A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.", "id": "MONDO:0000245", "name": "Tinea imbricata", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050116", "ICD10CM:B35.5", "MEDGEN:508199", "SCTID:240699006", "UMLS:C0040255", "icd11.foundation:1617973556"]}
{"category": ["biolink:Disease"], "description": "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.", "id": "MONDO:0000248", "name": "Dengue shock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050125", "GARD:0022736", "MEDGEN:83958", "MESH:D019595", "SCTID:409671005", "UMLS:C0376300"]}
{"category": ["biolink:Disease"], "description": "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.", "id": "MONDO:0000249", "name": "Secretory diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050129", "HP:0005208", "MEDGEN:75635", "SCTID:15699003", "UMLS:C0267557"]}
{"category": ["biolink:Disease"], "description": "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.", "id": "MONDO:0000250", "name": "Osmotic diarrheal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osmotic diarrhoea", "permeability diarrhea", "permeability diarrhoea"], "xref": ["DOID:0050130", "MEDGEN:540779", "SCTID:2946003", "UMLS:C0267556"]}
{"category": ["biolink:Disease"], "description": "A diarrhea that results from either increased or decreased motility in the bowel.", "id": "MONDO:0000251", "name": "Diarrheal disease secondary to altered bowel motility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["diarrhea secondary to altered bowel motility", "diarrhoea secondary to altered bowel motility", "motility-related diarrhea", "motility-related diarrhoea"]}
{"category": ["biolink:Disease"], "description": "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.", "id": "MONDO:0000252", "name": "Inflammatory diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050132", "MEDGEN:636702", "SCTID:95544006", "UMLS:C0521604"]}
{"category": ["biolink:Disease"], "description": "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.", "id": "MONDO:0000253", "name": "Piedra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hair shaft fungal infectious disease"], "xref": ["MEDGEN:45923", "MESH:D010854", "SCTID:402135006", "UMLS:C0031898"]}
{"category": ["biolink:Disease"], "description": "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.", "id": "MONDO:0000254", "name": "Cutaneous mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050134", "SCTID:14560005"]}
{"category": ["biolink:Disease"], "description": "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.", "id": "MONDO:0000255", "name": "Subcutaneous mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050135", "MEDGEN:1684692", "UMLS:C5230306"]}
{"category": ["biolink:Disease"], "description": "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.", "id": "MONDO:0000256", "name": "Systemic mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050136", "ICD9:117.9", "MEDGEN:639956", "SCTID:399314004", "UMLS:C0553576"]}
{"category": ["biolink:Disease"], "description": "Acute form of diarrhea.", "id": "MONDO:0000257", "name": "Acute diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute diarrheal disease", "diarrhea (disease), acute", "diarrhea, acute", "diarrheal disease, acute", "diarrhoea (disease), acute"], "xref": ["DOID:0050140", "MEDGEN:677005", "SCTID:409966000", "UMLS:C0740441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000259", "name": "Asymptomatic dengue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050143", "GARD:0022737"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.", "id": "MONDO:0000261", "name": "Adenoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of pharyngeal tonsil", "pharyngeal tonsil inflammation", "pharyngeal tonsilitis"], "xref": ["DOID:0050145", "ICD10CM:J35.02", "ICD9:474.01", "MEDGEN:507401", "SCTID:70020005", "UMLS:C0001427"]}
{"category": ["biolink:Disease"], "description": "Fungus infection of the external ear, usually by aspergillus species", "id": "MONDO:0000262", "name": "Otomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["external ear fungal infectious disease"], "xref": ["DOID:0050147", "ICD9:111.8", "MEDGEN:452110", "MESH:D059249", "SCTID:53316003", "UMLS:C0029895", "icd11.foundation:107388709"]}
{"category": ["biolink:Disease"], "description": "An inflammation of both larynx and trachea.", "id": "MONDO:0000263", "name": "Laryngotracheitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050148", "ICD9:464", "ICD9:464.2", "ICD9:476.1", "MEDGEN:507907", "SCTID:55130001", "UMLS:C0023076"]}
{"category": ["biolink:Disease"], "description": "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.", "id": "MONDO:0000265", "name": "Aspiration pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mendelson syndrome", "Mendelson's syndrome", "Mendelsons syndrome", "Pneumonias, aspiration", "acid aspiration syndrome", "acid aspiration syndromes", "aspiration Pneumonias", "aspiration pneumonia", "aspiration pneumonia (disease)", "gastric acid aspiration syndrome", "syndrome, Mendelson", "syndrome, Mendelson's", "syndrome, acid aspiration", "syndromes, acid aspiration"], "xref": ["DOID:0050152", "HP:0011951", "MEDGEN:10814", "MESH:D011015", "SCTID:422588002", "UMLS:C0032290"]}
{"category": ["biolink:Disease"], "description": "A aspergillosis that involves the lung.", "id": "MONDO:0000266", "name": "Pulmonary aspergilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung aspergillosis"], "xref": ["DOID:0050153", "EFO:1001834", "GARD:0022738", "MEDGEN:390019", "MESH:D055732", "UMLS:C2350529"]}
{"category": ["biolink:Disease"], "description": "A disease involving the lower respiratory tract.", "id": "MONDO:0000270", "name": "Lower respiratory tract disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lower respiratory tract", "disease or disorder of lower respiratory tract", "disorder of lower respiratory tract", "lower respiratory tract disease", "lower respiratory tract disease or disorder"], "xref": ["DOID:0050161", "EFO:0009433", "ICD9:478.1", "ICD9:478.19", "MEDGEN:712703", "SCTID:128272009", "UMLS:C1290325", "icd11.foundation:1582386590"]}
{"category": ["biolink:Disease"], "description": "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.", "id": "MONDO:0000271", "name": "Tuberculous salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050166", "GARD:0022739", "ICD9:016.6", "ICD9:016.60", "MEDGEN:546960", "SCTID:49558004", "UMLS:C0275933", "icd11.foundation:25239933"]}
{"category": ["biolink:Disease"], "description": "A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.", "id": "MONDO:0000273", "name": "Kunjin virus infectous disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050174", "GARD:0022740"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Powassan virus.", "id": "MONDO:0000276", "name": "Powassan encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Powassan virus caused disease or disorder", "Powassan virus disease or disorder", "Powassan virus infectious disease", "powassan encephalitis virus infection"], "xref": ["DOID:0050179", "GARD:0022741", "ICD9:063.8", "MEDGEN:18601", "SCTID:416707008", "UMLS:C0032858", "icd11.foundation:1674038791"]}
{"category": ["biolink:Disease"], "description": "A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.", "id": "MONDO:0000282", "name": "Whitewater arroyo hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000283", "name": "Hantavirus hemorrhagic fever with renal syndrome, seoul virus type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050200", "GARD:0027517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000284", "name": "Hantavirus hemorrhagic fever with renal syndrome, puumala virus type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephropathis epidemica"], "xref": ["DOID:0050201", "GARD:0027518", "MEDGEN:69308", "UMLS:C0242993"]}
{"category": ["biolink:Disease"], "description": "A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.", "id": "MONDO:0000286", "name": "Epstein-barr virus hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050204", "MEDGEN:640194", "SCTID:302919001", "UMLS:C0554114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000288", "name": "Polycystic echinococcosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["human polycystic hydatid disease", "neotropical echinococcosis"], "xref": ["DOID:0050218"]}
{"category": ["biolink:Disease"], "description": "A infectious disease involving the Naegleria fowleri.", "id": "MONDO:0000290", "name": "Primary amebic meningoencephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Naegleria fowleri infection"], "xref": ["DOID:0050242", "GARD:0009554", "ICD10CM:B60.2", "MEDGEN:81253", "MESH:C535275", "SCTID:721816008", "UMLS:C0300934"]}
{"category": ["biolink:Disease"], "description": "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.", "id": "MONDO:0000291", "name": "Granulomatous amebic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050246", "GARD:0012651", "ICD9:323.2", "MEDGEN:572559", "SCTID:230187000", "UMLS:C0338428"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Philophthalmus.", "id": "MONDO:0000292", "name": "Philophthalmiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Philophthalmus caused disease or disorder", "Philophthalmus disease or disorder", "Philophthalmus infectious disease"], "xref": ["DOID:0050250"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.", "id": "MONDO:0000293", "name": "Coenurosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["caenurosis", "coenuriasis", "coenurosis"], "xref": ["DOID:0050251", "ICD9:123.8", "MEDGEN:3142", "SCTID:24360007", "UMLS:C0009225", "icd11.foundation:1545561495"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Mesocestoides.", "id": "MONDO:0000294", "name": "Mesocestoidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mesocestoides caused disease or disorder", "Mesocestoides disease or disorder", "Mesocestoides infectious disease", "infection by Mesocestoides"], "xref": ["DOID:0050253", "MEDGEN:547845", "SCTID:85750001", "UMLS:C0277108"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Acanthocephala.", "id": "MONDO:0000295", "name": "Acanthocephaliasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Acanthocephala caused disease or disorder", "Acanthocephala disease or disorder", "Acanthocephala infectious disease", "disease caused by Acanthocephala", "disease due to Acanthocephala", "infection by Acanthocephala", "infection by thorny-headed worm"], "xref": ["DOID:0050254", "MEDGEN:548052", "SCTID:105713003", "UMLS:C0277331", "icd11.foundation:1026340475"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.", "id": "MONDO:0000297", "name": "Baylisascariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Baylisascaris procyonis caused disease or disorder", "Baylisascaris procyonis disease or disorder", "Baylisascaris procyonis infectious disease", "raccoon roundworm infection"], "xref": ["DOID:0050259", "GARD:0012654", "MEDGEN:547881", "NCIT:C128397", "UMLS:C0277150"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Dioctophyme renale.", "id": "MONDO:0000298", "name": "Dioctophymiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dioctophyme renale caused disease or disorder", "Dioctophyme renale disease or disorder", "Dioctophyme renale infection", "Dioctophyme renale infectious disease"], "xref": ["DOID:0050260", "MEDGEN:4326", "SCTID:40410004", "UMLS:C0012482"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Thelazia.", "id": "MONDO:0000299", "name": "Thelaziasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thelazia caused disease or disorder", "Thelazia disease or disorder", "Thelazia infectious disease", "infection by Thelazia", "thelaziasis"], "xref": ["DOID:0050261", "GARD:0027519", "ICD9:128.8", "MEDGEN:576041", "SCTID:46477004", "UMLS:C0344058", "icd11.foundation:1803398353"]}
{"category": ["biolink:Disease"], "description": "An myiasis caused by infection with Oestrus ovis.", "id": "MONDO:0000301", "name": "Ophthalmomyiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Oestrus ovis caused myiasis", "Oestrus ovis myiasis", "ophthalmic myiasis", "ophthalmomyiasis"], "xref": ["DOID:0050268", "GARD:0022742", "MEDGEN:507965", "SCTID:48216006", "UMLS:C0027034", "icd11.foundation:1105275196"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Basidiobolus.", "id": "MONDO:0000302", "name": "Basidiobolomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Basidiobolus caused disease or disorder", "Basidiobolus disease or disorder", "Basidiobolus infectious disease", "basidiobolomycosis", "infection by Basidiobolus", "infection caused by Basidiobolus"], "xref": ["DOID:0050278", "GARD:0022743", "MEDGEN:575966", "SCTID:4921002", "UMLS:C0343965", "icd11.foundation:2087283296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000303", "name": "Conidiobolomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Conidiobolus infectious disease", "infection by Conidiobolus"], "xref": ["DOID:0050279", "ICD9:111.8", "MEDGEN:547510", "SCTID:240783007", "UMLS:C0276712", "icd11.foundation:1326582778"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Talaromyces marneffei.", "id": "MONDO:0000304", "name": "Penicilliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Penicillium marneffei infectious disease", "Talaromyces marneffei caused disease or disorder", "Talaromyces marneffei disease or disorder", "Talaromyces marneffei infectious disease", "infection caused by Penicillium marneffei", "infection caused by Talaromyces marneffei", "infection due to Penicillium marneffei"], "xref": ["DOID:0050288", "MEDGEN:697372", "Orphanet:697053", "SCTID:372936000", "SCTID:713315007", "UMLS:C1274008", "icd11.foundation:646368820"]}
{"category": ["biolink:Disease"], "description": "Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.", "id": "MONDO:0000306", "name": "Trichosporonosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichosporon caused disease or disorder", "Trichosporon disease or disorder", "Trichosporon infectious disease"], "xref": ["DOID:0050290", "MEDGEN:452453", "MESH:D060586", "SCTID:240761008", "UMLS:C0343939"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Ichthyosporea.", "id": "MONDO:0000307", "name": "Parasitic ichthyosporea infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Ichthyosporea caused disease or disorder", "Ichthyosporea disease or disorder", "Ichthyosporea infectious disease"], "xref": ["DOID:0050291"]}
{"category": ["biolink:Disease"], "description": "A systemic mycosis that arises from infection in an immunologically normal host.", "id": "MONDO:0000308", "name": "Primary systemic mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050292"]}
{"category": ["biolink:Disease"], "description": "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.", "id": "MONDO:0000309", "name": "Aniseikonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050304", "EFO:1001266", "ICD10CM:H52.32", "ICD9:367.32", "MEDGEN:1943", "MESH:D000839", "SCTID:16059006", "UMLS:C0003078", "icd11.foundation:1672014953"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Alkhumra hemorrhagic fever virus.", "id": "MONDO:0000310", "name": "Alkhurma hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Alkhumra hemorrhagic fever virus caused disease or disorder", "Alkhumra hemorrhagic fever virus disease or disorder", "Alkhumra hemorrhagic fever virus infectious disease"], "xref": ["DOID:0050308", "GARD:0022744", "MEDGEN:1684673", "UMLS:C5230236"]}
{"category": ["biolink:Disease"], "description": "Lower than normal levels of phosphates in the circulating blood.", "id": "MONDO:0000313", "name": "Hypophosphatemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypophosphatemia", "hypophosphatemia (disease)"], "xref": ["DOID:0050336", "HP:0002148", "MEDGEN:39327", "MESH:D017674", "NCIT:C37977", "SCTID:4996001", "UMLS:C0085682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000314", "name": "Primary bacterial infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050338"]}
{"category": ["biolink:Disease"], "description": "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.", "id": "MONDO:0000315", "name": "Commensal bacterial infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050339"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000316", "name": "Opportunistic bacterial infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050340"]}
{"category": ["biolink:Disease"], "description": "A tularemia that involves the lymph node.", "id": "MONDO:0000320", "name": "Glandular tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymph node tularemia"], "xref": ["DOID:0050382", "GARD:0022745", "MEDGEN:546997", "SCTID:21857006", "UMLS:C0275974"]}
{"category": ["biolink:Disease"], "description": "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.", "id": "MONDO:0000321", "name": "Typhoidal tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050383", "GARD:0022746", "MEDGEN:633510", "SCTID:398554008", "UMLS:C0473876"]}
{"category": ["biolink:Disease"], "description": "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.", "id": "MONDO:0000327", "name": "Buruli ulcer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Buruli ulcer", "Mycobacterium ulcerans caused disease or disorder", "Mycobacterium ulcerans disease or disorder", "Mycobacterium ulcerans infectious disease"], "xref": ["DOID:0050456", "GARD:0009520", "MEDGEN:43206", "MESH:D054312", "NCIT:C84604", "SCTID:15845006", "UMLS:C0085568", "icd11.foundation:1974989140"]}
{"category": ["biolink:Disease"], "description": "Abnormally high level of phosphate in the blood.", "id": "MONDO:0000328", "name": "Hyperphosphatemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperphosphatemia", "hyperphosphatemia (disease)"], "xref": ["DOID:0050459", "HP:0002905", "MEDGEN:39326", "MESH:D054559", "SCTID:20165001", "UMLS:C0085681", "icd11.foundation:1745515193"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection caused by Rickettsia typhi.", "id": "MONDO:0000330", "name": "Endemic typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["endemic flea-borne typhus", "endemic typhus fever", "murine typhus", "urban typhus"], "xref": ["DOID:0050481", "GARD:0019033", "MEDGEN:11977", "MESH:D014437", "MedDRA:10028282", "NCIT:C84688", "Orphanet:83315", "UMLS:C0041472", "icd11.foundation:4659958"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Rickettsia helvetica.", "id": "MONDO:0000331", "name": "Rickettsia helvetica spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Rickettsia helvetica aneruptive fever", "Rickettsia helvetica caused disease or disorder", "Rickettsia helvetica disease or disorder", "Rickettsia helvetica infectious disease", "aneruptive fever"], "xref": ["DOID:0050484", "GARD:0022747"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Neorickettsia sennetsu.", "id": "MONDO:0000332", "name": "Sennetsu fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Neorickettsia sennetsu caused disease or disorder", "Neorickettsia sennetsu disease or disorder", "Neorickettsia sennetsu infectious disease", "sennetsu fever"], "xref": ["DOID:0050485", "GARD:0000120", "ICD9:088.89", "MEDGEN:105459", "MESH:C537582", "NORD:1703", "SCTID:21013006", "UMLS:C0520779"]}
{"category": ["biolink:Disease"], "description": "A congenital syphilis that is manifested between 0 and 2 years old.", "id": "MONDO:0000333", "name": "Early congenital syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050488", "GARD:0022748", "ICD9:090.2", "MEDGEN:546894", "SCTID:4359001", "UMLS:C0275859", "icd11.foundation:108348777"]}
{"category": ["biolink:Disease"], "description": "Nodular goiter characterized by more than one discrete tissue mass.", "id": "MONDO:0000334", "name": "Multinodular goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["goiter, multinodular"], "xref": ["DOID:0050489", "MEDGEN:87431", "NCIT:C131438", "OMIMPS:138800", "SCTID:237570007", "UMLS:C0342208"]}
{"category": ["biolink:Disease"], "description": "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.", "id": "MONDO:0000335", "name": "Parenchymatous neurosyphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050490", "GARD:0022749"]}
{"category": ["biolink:Disease"], "description": "A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.", "id": "MONDO:0000336", "name": "Meningovascular neurosyphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050491", "GARD:0022750"]}
{"category": ["biolink:Disease"], "description": "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.", "id": "MONDO:0000337", "name": "Exanthema subitum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exanthem subitum", "roseola", "roseola Infantum", "sixth disease"], "xref": ["DOID:0050495", "EFO:1001320", "ICD10CM:B08.2", "ICD9:057.8", "ICD9:058.1", "ICD9:058.10", "MEDGEN:41909", "MESH:D005077", "NCIT:C128420", "SCTID:54385001", "UMLS:C0015231", "icd11.foundation:1883970802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000338", "name": "Variola major infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050508", "ICD9:050.0", "MEDGEN:740750", "SCTID:47452006", "UMLS:C1812609"]}
{"category": ["biolink:Disease"], "description": "A paralytic poliomyelitis in which the site of paralysis is the spinal cord.", "id": "MONDO:0000339", "name": "Spinal polio", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050513", "GARD:0022751"]}
{"category": ["biolink:Disease"], "description": "A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.", "id": "MONDO:0000340", "name": "Bulbospinal polio", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050514", "GARD:0022752"]}
{"category": ["biolink:Disease"], "description": "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.", "id": "MONDO:0000341", "name": "Paralytic poliomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050515", "GARD:0022753", "MEDGEN:1684656", "UMLS:C1405301"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with O'nyong-nyong virus.", "id": "MONDO:0000342", "name": "O'nyong'nyong fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["O'nyong-nyong virus caused disease or disorder", "O'nyong-nyong virus disease or disorder", "O'nyong-nyong virus infectious disease"], "xref": ["DOID:0050516", "GARD:0027520", "ICD10CM:A92.1", "MEDGEN:547234", "SCTID:85579005", "UMLS:C0276286"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Barmah Forest virus.", "id": "MONDO:0000343", "name": "Barmah forest virus disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Barmah Forest virus caused disease or disorder", "Barmah Forest virus disease or disorder", "Barmah Forest virus infectious disease"], "xref": ["DOID:0050517", "GARD:0027521"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Ross River virus.", "id": "MONDO:0000344", "name": "Ross river fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ross River virus caused disease or disorder", "Ross River virus disease", "Ross River virus disease or disorder", "Ross River virus infectious disease"], "xref": ["DOID:0050518", "GARD:0027522", "ICD10CM:B33.1", "MEDGEN:1673033", "SCTID:602001", "UMLS:C0919833", "icd11.foundation:1085418398"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Oropouche virus.", "id": "MONDO:0000345", "name": "Oropouche fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Oropouche virus caused disease or disorder", "Oropouche virus disease or disorder", "Oropouche virus infectious disease"], "xref": ["DOID:0050521", "ICD10CM:A93.0", "MEDGEN:547314", "SCTID:72880002", "UMLS:C0276386", "icd11.foundation:693244560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000346", "name": "Hantavirus hemorrhagic fever with renal syndrome, dobrava-belgrade virus type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Balkan hemorrhagic fever"], "xref": ["DOID:0050522", "GARD:0027523"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.", "id": "MONDO:0000351", "name": "Disorder of methionine catabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypermethioninemia", "inborn error of methionine catabolic process", "inborn methionine catabolic process disorder", "rare inborn error of methionine catabolic process"], "xref": ["DOID:0050544", "GARD:0022754", "HP:0003235", "MEDGEN:887708", "NANDO:2200475", "SCTID:43123004", "UMLS:C4048705"]}
{"category": ["biolink:Disease"], "description": "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.", "id": "MONDO:0000355", "name": "Ullrich congenital muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UCMD", "Ullrich scleroatonic muscular dystrophy", "scleroatonic Ullrich disease", "scleroatonic muscular dystrophy"], "xref": ["DOID:0050558", "GARD:0004769", "MEDGEN:1642667", "MESH:C537521", "NANDO:1200215", "NANDO:2200862", "NCIT:C123438", "OMIMPS:254090", "Orphanet:75840", "SCTID:240062007", "UMLS:C4551860", "icd11.foundation:1011547453"]}
{"category": ["biolink:Disease"], "description": "A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "id": "MONDO:0000358", "name": "Orofacial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050567", "MEDGEN:472000", "OMIMPS:119530", "SCTID:449790007", "UMLS:C3266076"]}
{"category": ["biolink:Disease"], "description": "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).", "id": "MONDO:0000359", "name": "Spondylocostal dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Spondylocostal Dysplasia", "costovertebral dysplasia", "spondylocostal dysostosis", "spondylocostal dysplasia"], "xref": ["DOID:0050568", "GARD:0012174", "MEDGEN:82707", "MESH:C537565", "NCIT:C125598", "NORD:1308", "OMIMPS:277300", "UMLS:C0265343"]}
{"category": ["biolink:Disease"], "description": "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.", "id": "MONDO:0000363", "name": "Gummatous syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050584", "GARD:0027524", "icd11.foundation:1630654348"]}
{"category": ["biolink:Disease"], "description": "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.", "id": "MONDO:0000365", "name": "Primary congenital glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["primary congenital glaucoma", "primary congenital glaucoma (disease)"], "xref": ["DOID:0050593", "GARD:0022755", "HP:0008007", "MEDGEN:288550", "NCIT:C150251", "SCTID:415176004", "UMLS:C1533041", "icd11.foundation:517092878"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.", "id": "MONDO:0000367", "name": "Taeniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Taenia infection", "taenia saginata infection"], "xref": ["DOID:0050596", "EFO:1001433", "ICD10CM:B68", "ICD10WHO:B68", "ICD9:123.2", "MEDGEN:11701", "MESH:D013622", "NCIT:C85180", "SCTID:69163003", "UMLS:C0039254", "icd11.foundation:733748279"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that occurs at body sites other than the lung.", "id": "MONDO:0000368", "name": "Extrapulmonary tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050598", "GARD:0022756", "MEDGEN:671310", "SCTID:423997002", "UMLS:C0679362"]}
{"category": ["biolink:Disease"], "description": "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.", "id": "MONDO:0000369", "name": "Abdominal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculosis of abdomen"], "xref": ["DOID:0050599", "GARD:0022757", "ICD9:014.80", "MEDGEN:677012", "SCTID:447330002", "UMLS:C0740652"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the oral cavity.", "id": "MONDO:0000371", "name": "Oral cavity carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of mouth", "carcinoma in situ of oral cavity", "carcinoma in situ of the mouth", "carcinoma in situ of the oral cavity", "mouth carcinoma in situ", "oral cavity in situ carcinoma", "stage 0 carcinoma of mouth", "stage 0 carcinoma of oral cavity", "stage 0 carcinoma of the mouth", "stage 0 carcinoma of the oral cavity", "stage 0 mouth carcinoma", "stage 0 oral cavity cancer", "stage 0 oral cavity cancer aJCC v6", "stage 0 oral cavity cancer aJCC v6 and v7", "stage 0 oral cavity cancer aJCC v7", "stage 0 oral cavity carcinoma"], "xref": ["DOID:0050610", "GARD:0027525", "MEDGEN:138076", "NCIT:C4587", "SCTID:92660005", "UMLS:C0347073", "icd11.foundation:1389868484"]}
{"category": ["biolink:Disease"], "description": "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.", "id": "MONDO:0000372", "name": "Pharynx carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of pharynx", "carcinoma in situ of the pharynx", "pharyngeal cancer stage 0", "pharyngeal carcinoma in situ", "pharynx carcinoma in situ", "pharynx in situ carcinoma", "stage 0 carcinoma of pharynx", "stage 0 carcinoma of the pharynx", "stage 0 pharyngeal cancer", "stage 0 pharyngeal carcinoma", "stage 0 pharyngeal throat cancer", "stage 0 pharynx carcinoma"], "xref": ["DOID:0050611", "ICD10CM:D00.08", "MEDGEN:83851", "NCIT:C4942", "SCTID:92681005", "UMLS:C0347098", "icd11.foundation:1272356737"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a gall bladder.", "id": "MONDO:0000373", "name": "Gall bladder carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of gall bladder", "gall bladder in situ carcinoma", "stage 0 gall bladder carcinoma"], "xref": ["DOID:0050612", "GARD:0022758", "MEDGEN:87523", "NCIT:C4439", "UMLS:C0345911"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a bile duct.", "id": "MONDO:0000374", "name": "Bile duct carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct in situ carcinoma", "carcinoma in situ of bile duct", "stage 0 bile duct carcinoma"], "xref": ["DOID:0050613", "GARD:0022759", "NCIT:C134609"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a bronchus.", "id": "MONDO:0000375", "name": "Bronchus carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bronchus in situ carcinoma", "carcinoma in situ of bronchus", "stage 0 bronchus carcinoma"], "xref": ["DOID:0050614", "MEDGEN:754440", "SCTID:92557009", "UMLS:C2939445", "icd11.foundation:496085082"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the respiratory system", "id": "MONDO:0000376", "name": "Respiratory system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of respiratory system", "malignant neoplasm of respiratory system", "malignant respiratory system neoplasm", "respiratory system cancer"], "xref": ["DOID:0050615", "ICD10CM:C34", "ICD9:165.8", "ICD9:165.9", "MEDGEN:756863", "NCIT:C4571", "SCTID:449096009", "UMLS:C3164456", "icd11.foundation:401100796"]}
{"category": ["biolink:Disease"], "description": "A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.", "id": "MONDO:0000377", "name": "Malignant leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Leydig cell cancer", "Leydig cell tumor, malignant", "cancer of Leydig cell", "malignant Leydig cell neoplasm", "malignant interstitial cell neoplasm", "malignant neoplasm of Leydig cell"], "xref": ["DOID:0050616", "ICDO:8650/3", "MEDGEN:83143", "NCIT:C4213", "UMLS:C0334410"]}
{"category": ["biolink:Disease"], "description": "A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.", "id": "MONDO:0000378", "name": "Malignant sertoli cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sertoli cell tumor, malignant", "malignant Androblastoma"], "xref": ["DOID:0050617", "ICDO:8630/3", "ICDO:8640/3", "MEDGEN:137755", "NCIT:C67006", "UMLS:C0334406"]}
{"category": ["biolink:Disease"], "description": "A malignant form of Sertoli-leydig cell tumor.", "id": "MONDO:0000379", "name": "Malignant sertoli-leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["Sertoli-Leydig cell tumor, malignant"], "xref": ["DOID:0050618"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm arising in the paranasal sinus.", "id": "MONDO:0000380", "name": "Paranasal sinus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["accessory sinus cancer", "accessory sinus carcinoma", "cancer of paranasal sinus", "carcinoma of accessory sinus", "carcinoma of paranasal sinus", "carcinoma of the accessory sinus", "carcinoma of the paranasal sinus", "paranasal sinus carcinoma"], "xref": ["DOID:0050619", "GARD:0009354", "MEDGEN:167751", "NCIT:C6014", "UMLS:C0854995"]}
{"category": ["biolink:Disease"], "description": "A infiltrating urothelial carcinoma that involves the renal pelvis.", "id": "MONDO:0000381", "name": "Infiltrating renal pelvis transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050620", "GARD:0022760"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the respiratory system.", "id": "MONDO:0000382", "name": "Respiratory system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["respiratory system benign neoplasm"], "xref": ["DOID:0050621", "MEDGEN:635669", "NCIT:C8531", "SCTID:255166003", "UMLS:C0497556"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.", "id": "MONDO:0000383", "name": "Benign reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign reproductive system neoplasm", "reproductive organ benign neoplasm"], "xref": ["DOID:0050622", "MEDGEN:234034", "NCIT:C7617", "UMLS:C1332536"]}
{"category": ["biolink:Disease"], "description": "A benign abnormal growth of the cells that comprise the bladder.", "id": "MONDO:0000384", "name": "Bladder benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign bladder neoplasm", "benign bladder tumor", "benign bladder tumour", "benign neoplasm of bladder", "benign neoplasm of the bladder", "benign neoplasm of the urinary bladder", "benign neoplasm of urinary bladder", "benign tumor of bladder", "benign tumor of the bladder", "benign tumor of the urinary bladder", "benign tumor of urinary bladder", "benign tumour of bladder", "benign tumour of the bladder", "benign tumour of the urinary bladder", "benign tumour of urinary bladder", "benign urinary bladder neoplasm", "benign urinary bladder tumor", "benign urinary bladder tumour", "urinary bladder benign neoplasm"], "xref": ["DOID:0050623", "ICD10CM:D30.3", "ICD9:223.3", "MEDGEN:57811", "NCIT:C3618", "SCTID:91992005", "UMLS:C0154017", "icd11.foundation:750827946"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from any part of the digestive system.", "id": "MONDO:0000385", "name": "Benign digestive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alimentary part of gastrointestinal system benign neoplasm", "benign GI neoplasm", "benign GI system neoplasm", "benign GI system tumor", "benign GI system tumour", "benign GI tumor", "benign GI tumour", "benign digestive system tumor", "benign digestive system tumour", "benign gastrointestinal neoplasm", "benign gastrointestinal system tumor", "benign gastrointestinal system tumour", "benign gastrointestinal tumor", "benign gastrointestinal tumour", "benign neoplasm of digestive system", "benign neoplasm of gastrointestinal system", "benign neoplasm of the digestive system", "benign tumor of GI system", "benign tumor of digestive system", "benign tumor of gastrointestinal system", "benign tumor of the GI system", "benign tumor of the digestive system", "benign tumor of the gastrointestinal system", "benign tumour of GI system", "benign tumour of digestive system", "benign tumour of gastrointestinal system", "benign tumour of the GI system", "benign tumour of the digestive system", "benign tumour of the gastrointestinal system"], "xref": ["DOID:0050624", "MEDGEN:141680", "NCIT:C4787", "UMLS:C0497538"]}
{"category": ["biolink:Disease"], "description": "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.", "id": "MONDO:0000386", "name": "Digestive system neuroendocrine tumor, grade 1/2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050626", "GARD:0022761", "MEDGEN:443945", "NCIT:C95404", "ONCOTREE:GINET", "UMLS:C2930967"]}
{"category": ["biolink:Disease"], "description": "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).", "id": "MONDO:0000387", "name": "Hypochromic microcytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypochromic microcytic anaemia (disease)", "hypochromic microcytic anemia", "hypochromic microcytic anemia (disease)"], "xref": ["DOID:0050642", "HP:0004840", "MEDGEN:124413", "MESH:C536357", "SCTID:44666001", "UMLS:C0271901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000389", "name": "Atelosteogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050648", "MEDGEN:1806597", "OMIMPS:108720", "SCTID:43814000", "UMLS:C5574658"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.", "id": "MONDO:0000390", "name": "Vitelliform macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["macular dystrophy, vitelliform", "vitelliform macular dystrophy"], "xref": ["DOID:0050661", "GARD:0022762", "MEDGEN:137920", "MESH:D057826", "NANDO:1200932", "NCIT:C118788", "OMIMPS:153840", "SCTID:90036004", "UMLS:C0339510"]}
{"category": ["biolink:Disease"], "description": "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.", "id": "MONDO:0000393", "name": "Partial fetal alcohol syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050666", "MEDGEN:775682", "UMLS:C3661483"]}
{"category": ["biolink:Disease"], "description": "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.", "id": "MONDO:0000395", "name": "Alcohol-related birth defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARBD", "alcohol related birth defect"], "xref": ["DOID:0050668", "MEDGEN:459973", "NCIT:C92727", "UMLS:C3146244"]}
{"category": ["biolink:Disease"], "description": "A form of cerebral palsy wherein spasticity is the exclusive impairment present.", "id": "MONDO:0000396", "name": "Spastic cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050669", "ICD9:344.89", "MEDGEN:137905", "NCIT:C116903", "SCTID:230773005", "UMLS:C0338596", "icd11.foundation:1426032265"]}
{"category": ["biolink:Disease"], "description": "A form of cerebral palsy caused by damage to cerebellar structures.", "id": "MONDO:0000397", "name": "Ataxic cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050670", "ICD10CM:G80.4", "ICD9:343.8", "MEDGEN:95998", "NCIT:C97168", "SCTID:278512001", "UMLS:C0394005", "icd11.foundation:1134558601"]}
{"category": ["biolink:Disease"], "description": "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.", "id": "MONDO:0000400", "name": "Mixed cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050673", "ICD9:343.8", "MEDGEN:148218", "NCIT:C97177", "SCTID:702318008", "UMLS:C0751024", "icd11.foundation:1215784069"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.", "id": "MONDO:0000402", "name": "Small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["oat cell cancer", "oat cell carcinoma", "small cell NEC", "small cell cancer", "small cell car. (extrapulmonary)", "small cell carcinoma", "small cell carcinoma (extrapulmonary)", "small cell neuroendocrine carcinoma"], "xref": ["DOID:0050685", "EFO:0008524", "GARD:0022765", "ICDO:8041/3", "ICDO:8042/3", "MEDGEN:90748", "MESH:D018288", "NCIT:C3915", "NCIT:C4099", "SCTID:11010461000119101", "UMLS:C0334239"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the anal canal", "id": "MONDO:0000405", "name": "Anal canal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anal canal cancer", "cancer of anal canal", "malignant anal canal neoplasm", "malignant neoplasm of anal canal"], "xref": ["DOID:0050688", "ICD10CM:C21.1", "ICD9:154.2", "MEDGEN:509296", "SCTID:363352004", "UMLS:C0153445", "icd11.foundation:655574575"]}
{"category": ["biolink:Disease"], "description": "A malignant form of pleural solitary fibrous tumor.", "id": "MONDO:0000407", "name": "Malignant pleural solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pleural solitary fibrous tumor, malignant"], "xref": ["DOID:0050695", "GARD:0022766", "MEDGEN:1876517", "UMLS:C5985025"]}
{"category": ["biolink:Disease"], "description": "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.", "id": "MONDO:0000408", "name": "Fetal alcohol spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fetal alcohol spectrum disorders", "foetal alcohol spectrum disorders"], "xref": ["DOID:0050696", "MEDGEN:457516", "MESH:D063647", "NCIT:C92780", "SCTID:609437000", "UMLS:C2985290"]}
{"category": ["biolink:Disease"], "description": "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.", "id": "MONDO:0000409", "name": "Chorioamnionitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fetal membrane inflammation", "foetal membrane inflammation", "inflammation of fetal membrane", "inflammation of foetal membrane", "intra-amniotic infection"], "xref": ["DOID:0050697", "ICD10CM:O41.12", "MEDGEN:3056", "MESH:D002821", "NCIT:C26720", "SCTID:11612004", "UMLS:C0008495"]}
{"category": ["biolink:Disease"], "description": "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.", "id": "MONDO:0000410", "name": "Funisitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050698", "ICD9:658.80", "MEDGEN:226906", "NCIT:C97077", "SCTID:396343006", "UMLS:C1275592"]}
{"category": ["biolink:Disease"], "description": "An electroclinical syndrome with onset in adolescence and adulthood.", "id": "MONDO:0000415", "name": "Adolescence-adult electroclinical syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050705", "GARD:0027259"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.", "id": "MONDO:0000421", "name": "Inborn serine deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inborn L-serine biosynthetic process disorder", "inborn error of L-serine biosynthetic process", "rare inborn error of L-serine biosynthetic process"], "xref": ["DOID:0050721", "GARD:0022768"]}
{"category": ["biolink:Disease"], "description": "X-linked form of disease.", "id": "MONDO:0000425", "name": "X-linked disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["X-linked disease or disorder", "X-linked hereditary disease", "X-linked hereditary disorder", "X-linked inherited disease", "X-linked inherited disorder", "disease or disorder, X-linked", "disease, X-linked"], "xref": ["DOID:0050735", "ICD9:799.89", "MEDGEN:222910", "MESH:D040181", "NCIT:C85865", "SCTID:128430005", "UMLS:C1138434"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of disease.", "id": "MONDO:0000426", "name": "Autosomal dominant disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autosomal dominant disease or disorder", "autosomal dominant hereditary disorder", "autosomal dominant inherited disorder", "disease or disorder, autosomal dominant", "disease, autosomal dominant"], "xref": ["DOID:0050736", "ICD9:758.5", "MEDGEN:539206", "SCTID:11164009", "UMLS:C0265385"]}
{"category": ["biolink:Disease"], "description": "Y-linked form of disease.", "id": "MONDO:0000428", "name": "Y-linked disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Y-linked disease or disorder", "disease or disorder, Y-linked", "disease, Y-linked"], "xref": ["DOID:0050738", "MEDGEN:289655", "MESH:D050174", "UMLS:C1563751"]}
{"category": ["biolink:Disease"], "description": "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.", "id": "MONDO:0000429", "name": "Autosomal genetic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autosomal hereditary disorder", "autosomal inherited disease", "autosomal inherited disorder"], "xref": ["DOID:0050739", "ICD9:758.5", "MEDGEN:539205", "SCTID:1899006", "UMLS:C0265384"]}
{"category": ["biolink:Disease"], "description": "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.", "id": "MONDO:0000430", "name": "Mature t-cell and nk-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTCL", "mature T-and NK-cell lymphoma", "mature T-cell and NK-cell lymphoma", "mature T-cell and NK-cell non-Hodgkin lymphoma", "mature T-cell and NK-cell non-Hodgkin's lymphoma", "mature T-cell lymphoma", "mature T-cell non-Hodgkin's lymphoma", "peripheral T-cell lymphoma"], "xref": ["DOID:0050743", "DOID:0050749", "GARD:0007368", "ICD10CM:C84.4", "ICDO:9702/3", "MEDGEN:1790498", "MESH:D016411", "NCIT:C3468", "SCTID:109977009", "UMLS:C5551485"]}
{"category": ["biolink:Disease"], "description": "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.", "id": "MONDO:0000432", "name": "Lymphoplasmacytic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Immunocytoma, lymphoplasmacytic type", "lymphoma, lymphoplasmacytic, malignant", "lymphoma, plasmacytic", "lymphoplasmacytic lymphoma", "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)", "lymphoplasmacytoid lymphoma"], "xref": ["DOID:0050747", "GARD:0022769", "ICDO:9671/3", "ICDO:9761/3", "MEDGEN:473052", "NCIT:C3212", "ONCOTREE:LPL", "UMLS:C0334633", "icd11.foundation:2058944823"]}
{"category": ["biolink:Disease"], "description": "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.", "id": "MONDO:0000437", "name": "Cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ataxia syndrome", "cerebellar ataxias", "spinocerebellar ataxia", "spinocerebellar degeneration"], "xref": ["DOID:0050753", "GARD:0019816", "ICD9:334.3", "MEDGEN:849", "MESH:D002524", "NANDO:1200037", "NANDO:2100238", "NANDO:2200882", "NCIT:C82341", "Orphanet:102002", "SCTID:85102008", "UMLS:C0007758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000440", "name": "Metabolic acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050758", "MEDGEN:65117", "SCTID:59455009", "UMLS:C0220981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000446", "name": "Midface dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050767"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.", "id": "MONDO:0000447", "name": "Autosomal dominant polycystic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AD polycystic liver disease", "ADPLD", "PCLD", "isolated congenital polycystic liver disease", "isolated polycystic liver disease", "polycystic liver disease"], "xref": ["DOID:0050770", "GARD:0009457", "HP:0006557", "ICD10CM:Q44.6", "ICD9:751.62", "MEDGEN:56388", "MedDRA:10010427", "MedDRA:10048834", "MedDRA:10083939", "NCIT:C82833", "OMIMPS:174050", "Orphanet:2924", "SCTID:72925005", "UMLS:C0158683", "icd11.foundation:1361740083", "icd11.foundation:423904268"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.", "id": "MONDO:0000448", "name": "Paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Paraganglionic neoplasm", "Paraganglionic tumor", "Paraganglionic tumour", "neoplasm of paraganglion", "neoplasm of the paraganglion", "paraganglioma", "paragangliomas", "paraganglion neoplasm", "paraganglion tumor", "paraganglion tumour", "tumor of paraganglion", "tumor of the paraganglion", "tumour of paraganglion", "tumour of the paraganglion"], "xref": ["DOID:0050773", "EFO:1000453", "GARD:0022770", "ICD9:239.7", "ICDO:8680/1", "MEDGEN:10571", "MESH:D010235", "NCIT:C3308", "ONCOTREE:PGNG", "SCTID:127027008", "UMLS:C0030421"]}
{"category": ["biolink:Disease"], "description": "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.", "id": "MONDO:0000450", "name": "Secondary progressive multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPMS", "secondary-progressive MS"], "xref": ["DOID:0050783", "EFO:0008522", "MEDGEN:155969", "NANDO:1200026", "NANDO:2201321", "SCTID:425500002", "UMLS:C0751965", "icd11.foundation:1045965709"]}
{"category": ["biolink:Disease"], "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.", "id": "MONDO:0000451", "name": "Primary progressive multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050784", "EFO:0008520", "MEDGEN:155968", "NANDO:1200025", "NANDO:2201320", "SCTID:428700003", "UMLS:C0751964", "icd11.foundation:1020720762"]}
{"category": ["biolink:Disease"], "description": "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.", "id": "MONDO:0000452", "name": "Progressive relapsing multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050785", "MEDGEN:95982", "SCTID:230374002", "UMLS:C0393666"]}
{"category": ["biolink:Disease"], "description": "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG ( 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified", "id": "MONDO:0000453", "name": "Short qt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["short QT syndrome", "ventricular arrhythmia associated with short QT syndrome"], "xref": ["DOID:0050793", "GARD:0016650", "ICD9:426.89", "MEDGEN:378835", "MESH:C580439", "NCIT:C71060", "NORD:2019", "OMIMPS:609620", "Orphanet:51083", "SCTID:698272007", "UMLS:C2348199", "icd11.foundation:553392015"]}
{"category": ["biolink:Disease"], "description": "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.", "id": "MONDO:0000455", "name": "Cone dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cone dystrophy"], "xref": ["DOID:0050795", "GARD:0011897", "ICD9:362.75", "MEDGEN:676499", "MESH:D000077765", "NANDO:1200936", "NORD:991", "Orphanet:1871", "SCTID:312917007", "UMLS:C0730290"]}
{"category": ["biolink:Disease"], "description": "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.", "id": "MONDO:0000456", "name": "Cerebral creatine deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CCDS", "CDS", "cerebral creatine deficiency syndrome", "creatine deficiency syndrome"], "xref": ["DOID:0050798", "GARD:0018952", "MEDGEN:1826001", "NANDO:1201032", "NANDO:2100226", "NANDO:2200842", "OMIMPS:300352", "Orphanet:79172", "UMLS:C5244016"]}
{"category": ["biolink:Disease"], "description": "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.", "id": "MONDO:0000457", "name": "Classical glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classical glioblastoma"], "xref": ["DOID:0050803", "GARD:0022771", "MEDGEN:820001", "NCIT:C111694", "UMLS:C3827253"]}
{"category": ["biolink:Disease"], "description": "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.", "id": "MONDO:0000458", "name": "Proneural glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["proneural glioblastoma"], "xref": ["DOID:0050804", "GARD:0022772", "MEDGEN:821212", "NCIT:C111692", "UMLS:C3828464"]}
{"category": ["biolink:Disease"], "description": "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.", "id": "MONDO:0000459", "name": "Mesenchymal glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mesenchymal glioblastoma"], "xref": ["DOID:0050805", "GARD:0022773", "MEDGEN:821870", "NCIT:C111695", "UMLS:C3829122"]}
{"category": ["biolink:Disease"], "description": "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.", "id": "MONDO:0000460", "name": "Neural glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neural glioblastoma"], "xref": ["DOID:0050806", "GARD:0022774", "MEDGEN:821580", "NCIT:C111693", "UMLS:C3828832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000461", "name": "Nutritional biotin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050810", "MEDGEN:785975", "MESH:C531633", "SCTID:49607006", "UMLS:C3714396"]}
{"category": ["biolink:Disease"], "description": "A disease involving the ocular adnexa.", "id": "MONDO:0000462", "name": "Eye adnexa disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of ocular adnexa", "disease or disorder of ocular adnexa", "disorder of ocular adnexa", "ocular adnexa disease", "ocular adnexa disease or disorder"], "xref": ["DOID:0050815", "EFO:0009546", "ICD10WHO:H00-H06", "MEDGEN:713201", "SCTID:118941004", "UMLS:C1290855"]}
{"category": ["biolink:Disease"], "description": "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.", "id": "MONDO:0000463", "name": "Ochoa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ochoa syndrome", "Urofacial Syndrome", "hydronephrosis-inverted smile syndrome", "inverted smile-neurogenic bladder syndrome", "partial facial palsy with urinary abnormalities", "urofacial syndrome"], "xref": ["DOID:0050816", "GARD:0000104", "MEDGEN:98015", "MESH:C536480", "NORD:1515", "OMIMPS:236730", "Orphanet:2704", "SCTID:236533008", "UMLS:C0403555", "icd11.foundation:443886910"]}
{"category": ["biolink:Disease"], "description": "A heart block that is initiated in the atrioventricular node.", "id": "MONDO:0000465", "name": "Atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AV block", "AV nodal block", "AVB", "atrioventricular block", "atrioventricular block (disease)"], "xref": ["DOID:0050820", "HP:0001678", "ICD9:426.10", "MEDGEN:13956", "MESH:D054537", "SCTID:233917008", "UMLS:C0004245"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.", "id": "MONDO:0000466", "name": "First-degree atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AV block first degree", "atrioventricular block first degree", "atrioventricular block, first degree", "first degree AV block", "first degree atrioventricular block"], "xref": ["DOID:0050821", "ICD10CM:I44.0", "ICD9:426.11", "MEDGEN:43215", "NCIT:C62015", "SCTID:270492004", "UMLS:C0085614", "icd11.foundation:1438248929"]}
{"category": ["biolink:Disease"], "description": "Intermittent failure of atrial electrical impulse conduction to the ventricles.", "id": "MONDO:0000467", "name": "Second-degree atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AV block second degree", "atrioventricular block second degree", "atrioventricular block, second degree", "second degree AV block", "second degree atrioventricular block"], "xref": ["DOID:0050822", "ICD10CM:I44.1", "ICD9:426.13", "MEDGEN:75546", "NCIT:C111119", "SCTID:195042002", "UMLS:C0264906", "icd11.foundation:821174901"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)", "id": "MONDO:0000468", "name": "Third-degree atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AV block third degree", "atrioventricular block complete", "atrioventricular block, third degree", "complete AV block", "complete atrioventricular block", "complete heart block", "non-congenital complete atrioventricular block", "third degree AV block", "third degree atrioventricular block"], "xref": ["DOID:0050823", "ICD9:426.0", "MEDGEN:56230", "NANDO:2200214", "NCIT:C50501", "SCTID:27885002", "UMLS:C0151517", "icd11.foundation:1147105932"]}
{"category": ["biolink:Disease"], "description": "A disease involving the sinoatrial node.", "id": "MONDO:0000469", "name": "Sinoatrial node disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of sinoatrial node", "disease or disorder of sinoatrial node", "disorder of sinoatrial node", "sinoatrial node disease", "sinoatrial node disease or disorder"], "xref": ["DOID:0050824", "MEDGEN:98448", "UMLS:C0428908"]}
{"category": ["biolink:Disease"], "description": "A disease involving the endocardium.", "id": "MONDO:0000470", "name": "Endocardium disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of endocardium", "disease or disorder of endocardium", "disorder of endocardium", "endocardial disease", "endocardium disease", "endocardium disease or disorder"], "xref": ["DOID:0050825", "MEDGEN:678520", "SCTID:123596001", "UMLS:C0854140"]}
{"category": ["biolink:Disease"], "description": "A disease involving the tricuspid valve.", "id": "MONDO:0000471", "name": "Tricuspid valve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of tricuspid valve", "disease or disorder of tricuspid valve", "disorder of tricuspid valve", "tricuspid valve disease", "tricuspid valve disease or disorder", "tricuspid valve disorder"], "xref": ["DOID:0050826", "EFO:0009568", "ICD9:397.0", "MEDGEN:120507", "NCIT:C78649", "SCTID:20721001", "UMLS:C0264882", "icd11.foundation:1843615838"]}
{"category": ["biolink:Disease"], "description": "An impairment of the structure or function of the blood vessels which carry blood away from the heart.", "id": "MONDO:0000473", "name": "Arterial disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arterial disease", "arterial disorder", "arteriopathy", "artery disease", "artery disease or disorder", "disease of artery", "disease or disorder of artery", "disorder of artery"], "xref": ["DOID:0050828", "ICD9:447.8", "ICD9:447.9", "MEDGEN:208875", "NCIT:C35317", "SCTID:359557001", "UMLS:C0852949"]}
{"category": ["biolink:Disease"], "description": "A disease involving the pericardium.", "id": "MONDO:0000474", "name": "Pericardium disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of pericardium", "disease or disorder of pericardium", "disorder of pericardium", "pericardium disease", "pericardium disease or disorder"], "xref": ["DOID:0050829", "ICD9:423.8", "ICD9:423.9", "MEDGEN:539093", "SCTID:55855009", "UMLS:C0265122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000476", "name": "Generalized dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dystonia deformans progressiva", "generalised isolated dystonia", "generalized isolated dystonia"], "xref": ["DOID:0050835", "GARD:0021618", "ICD9:333.6", "ICD9:333.8", "ICD9:333.89", "MEDGEN:341342", "MESH:D004422", "Orphanet:376724", "SCTID:425492002", "UMLS:C1848954"]}
{"category": ["biolink:Disease"], "description": "A dystonia that is localized to a specific part of the body.", "id": "MONDO:0000477", "name": "Focal dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050836", "GARD:0027526", "MEDGEN:149279", "SCTID:445006008", "UMLS:C0743332"]}
{"category": ["biolink:Disease"], "description": "A dystonia that involves two or more unrelated body parts.", "id": "MONDO:0000478", "name": "Multifocal dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050837", "GARD:0027527"]}
{"category": ["biolink:Disease"], "description": "A dystonia that affects two or more adjacent parts of the body.", "id": "MONDO:0000479", "name": "Segmental dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050838", "GARD:0027528", "ICD9:333.89", "MEDGEN:744778", "SCTID:427945008", "UMLS:C1997740"]}
{"category": ["biolink:Disease"], "description": "A focal dystonia of the pelvic floor muscles during attempted defecation.", "id": "MONDO:0000480", "name": "Anismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal region skeletal muscle focal dystonia", "focal dystonia of anal region skeletal muscle"], "xref": ["DOID:0050839", "ICD9:569.49", "MEDGEN:540810", "SCTID:83605009", "UMLS:C0267601"]}
{"category": ["biolink:Disease"], "description": "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.", "id": "MONDO:0000481", "name": "Cervical dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050840", "GARD:0027529", "ICD9:333.83", "MEDGEN:101818", "NCIT:C85072", "Orphanet:93962", "SCTID:74333002", "UMLS:C0152116", "icd11.foundation:1435836279"]}
{"category": ["biolink:Disease"], "description": "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.", "id": "MONDO:0000482", "name": "Focal hand dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hand and arm dystonia", "writer's cramp"], "xref": ["DOID:0050841", "GARD:0027530", "ICD9:333.84", "MEDGEN:57821", "SCTID:52008007", "UMLS:C0154676"]}
{"category": ["biolink:Disease"], "description": "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.", "id": "MONDO:0000483", "name": "Oculogyric crisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050842", "GARD:0027531", "MEDGEN:43221", "UMLS:C0085637", "icd11.foundation:1191930451"]}
{"category": ["biolink:Disease"], "description": "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.", "id": "MONDO:0000485", "name": "Spasmodic dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["laryngeal dyskinesia", "laryngeal dystonia", "spasmodic dysphonia", "spastic dysphonia"], "xref": ["DOID:0050844", "GARD:0027260", "ICD9:478.79", "MEDGEN:409603", "MESH:D055154", "Orphanet:93961", "SCTID:3331000119108", "UMLS:C1963946"]}
{"category": ["biolink:Disease"], "description": "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.", "id": "MONDO:0000486", "name": "Craniofacial dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050845", "GARD:0027532", "MEDGEN:868612", "UMLS:C4023011"]}
{"category": ["biolink:Disease"], "description": "A multifocal dystonia that involves the arm and leg on the same side of the body.", "id": "MONDO:0000487", "name": "Hemidystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050846", "GARD:0027533", "ICD9:333.99", "MEDGEN:743329", "SCTID:427232004", "UMLS:C1960561"]}
{"category": ["biolink:Disease"], "description": "A adenoma that involves the periampullary region of duodenum.", "id": "MONDO:0000488", "name": "Periampullary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["periampullary region of duodenum adenoma"], "xref": ["DOID:0050849"]}
{"category": ["biolink:Disease"], "description": "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.", "id": "MONDO:0000489", "name": "Diabetic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050850", "MEDGEN:1806599", "UMLS:C1868773"]}
{"category": ["biolink:Disease"], "description": "A hardening of the kidney glomerulus caused by scarring of the blood vessels.", "id": "MONDO:0000490", "name": "Glomerulosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glomerular sclerosis"], "xref": ["DOID:0050851", "GARD:0022776", "MEDGEN:61248", "NCIT:C120888", "SCTID:197661001", "UMLS:C0178664", "icd11.foundation:2068645853"]}
{"category": ["biolink:Disease"], "description": "A ischemia that involves the limb.", "id": "MONDO:0000491", "name": "Limb ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ischaemic disease of limb", "ischemic disease of limb", "limb ischaemic disease", "limb ischemia", "limb ischemic disease"], "xref": ["DOID:0050852", "MEDGEN:754513", "SCTID:21631000119105", "UMLS:C2945695"]}
{"category": ["biolink:Disease"], "description": "Chronic form of venous insufficiency (disease).", "id": "MONDO:0000492", "name": "Chronic venous insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic venous insufficiency (disease)", "venous insufficiency (disease), chronic"], "xref": ["DOID:0050853", "MEDGEN:727071", "UMLS:C1306557"]}
{"category": ["biolink:Disease"], "description": "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.", "id": "MONDO:0000494", "name": "Renal fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050855", "EFO:1001517", "MEDGEN:508798", "SCTID:197660000", "UMLS:C0151650"]}
{"category": ["biolink:Disease"], "description": "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.", "id": "MONDO:0000495", "name": "Oppositional defiant disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oppositional defiant disorder", "oppositional defiant disorder (disease)"], "xref": ["DOID:0050856", "HP:0010865", "ICD10CM:F91.3", "ICD9:313.81", "MEDGEN:18178", "MESH:D019958", "NCIT:C92565", "SCTID:18941000", "UMLS:C0029121", "icd11.foundation:1487528823"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the bladder resulting in bloody urine.", "id": "MONDO:0000496", "name": "Hemorrhagic cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050859", "MEDGEN:508360", "NCIT:C114666", "SCTID:87696004", "UMLS:C0085692"]}
{"category": ["biolink:Disease"], "description": "Inflammation of uterine musculature associated with pus in the uterine cavity.", "id": "MONDO:0000497", "name": "Pyometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of myometrium", "myometrium inflammation", "pyometra"], "xref": ["DOID:0050862", "MEDGEN:18784", "MESH:D055112", "NCIT:C121207", "SCTID:88981003", "UMLS:C0034215"]}
{"category": ["biolink:Disease"], "description": "An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)", "id": "MONDO:0000498", "name": "Arteritic anterior ischemic optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["arteritic aion"], "xref": ["DOID:0050863", "GARD:0022778", "MEDGEN:1378092", "SCTID:733506009", "UMLS:C2242711", "icd11.foundation:815828716"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000499", "name": "Non-arteritic anterior ischemic optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NAION", "non-arteritic aion"], "xref": ["DOID:0050864", "GARD:0027534", "MEDGEN:338887", "Orphanet:415300", "UMLS:C1852242", "icd11.foundation:8640162"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.", "id": "MONDO:0000500", "name": "Tongue squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["scc of the tongue", "scc of tongue", "squamous cell carcinoma of the tongue", "squamous cell carcinoma of tongue", "tongue scc", "tongue squamous cell carcinoma"], "xref": ["DOID:0050865", "GARD:0022779", "MEDGEN:91153", "NCIT:C4648", "SCTID:276952000", "UMLS:C0349566"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.", "id": "MONDO:0000502", "name": "Villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050869", "ICDO:8261/0", "MEDGEN:60206", "MESH:D018253", "NCIT:C7399", "UMLS:C0206674"]}
{"category": ["biolink:Disease"], "description": "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.", "id": "MONDO:0000503", "name": "Lung adenocarcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung adenocarcinoma In situ"], "xref": ["DOID:0050870", "GARD:0022780", "MEDGEN:1620128", "NCIT:C136486", "NCIT:C8748", "ONCOTREE:LAIS", "UMLS:C4521520"]}
{"category": ["biolink:Disease"], "description": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.", "id": "MONDO:0000507", "name": "Inclusion body myopathy with paget disease of bone and frontotemporal dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IBMPFD", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia", "inclusion body myopathy/Paget disease/frontotemporal dementia", "limb-girdle muscular dystrophy with Paget disease of bone", "pagetoid amyotrophic lateral sclerosis", "pagetoid neuroskeletal syndrome"], "xref": ["DOID:0050881", "GARD:0010899", "MEDGEN:322251", "OMIMPS:167320", "Orphanet:52430", "SCTID:703544004", "UMLS:C1833662", "icd11.foundation:1947548457"]}
{"category": ["biolink:Disease"], "description": "A intellectual disability that is part of a larger syndrome.", "id": "MONDO:0000508", "name": "Syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["syndrome associated with intellectual disability", "syndromic intellectual disability"], "xref": ["DOID:0050888", "MEDGEN:1842178", "UMLS:C5680525"]}
{"category": ["biolink:Disease"], "description": "An intellectual disability that is not part of a larger syndrome.", "id": "MONDO:0000509", "name": "Non-syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["isolated intellectual disability", "nonsyndromic intellectual disability"], "xref": ["DOID:0050889"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]", "id": "MONDO:0000510", "name": "Synucleinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050890", "GARD:0022781", "MEDGEN:1682194", "MESH:D000080874", "UMLS:C5191670"]}
{"category": ["biolink:Disease"], "description": "A ameloblastoma that involves the bone tissue.", "id": "MONDO:0000513", "name": "Bone ameloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ameloblastoma of bone tissue", "bone tissue ameloblastoma"], "xref": ["DOID:0050895", "GARD:0022782"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the bone tissue.", "id": "MONDO:0000514", "name": "Bone squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone tissue squamous cell carcinoma"], "xref": ["DOID:0050896", "GARD:0022783"]}
{"category": ["biolink:Disease"], "description": "A chondrosarcoma (disease) that involves the bone tissue.", "id": "MONDO:0000515", "name": "Bone chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone tissue chondrosarcoma (disease)", "chondrosarcoma (disease) of bone tissue"], "xref": ["DOID:0050897", "GARD:0022784", "MEDGEN:756255", "UMLS:C3163843"]}
{"category": ["biolink:Disease"], "description": "A chondroma that involves the phalanx.", "id": "MONDO:0000516", "name": "Phalanx chondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["phalanx chondroma"], "xref": ["DOID:0050898", "GARD:0022785"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma that involves the brainstem.", "id": "MONDO:0000517", "name": "Brain stem medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brainstem medulloblastoma", "medulloblastoma of brainstem"], "xref": ["DOID:0050899", "GARD:0022786"]}
{"category": ["biolink:Disease"], "description": "A chordoma (disease) that involves the fused sacrum.", "id": "MONDO:0000518", "name": "Sacrum chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chordoma (disease) of fused sacrum", "fused sacrum chordoma (disease)"], "xref": ["DOID:0050900", "GARD:0022787", "MEDGEN:756688", "NCIT:C129927", "SCTID:447730004", "UMLS:C3164279"]}
{"category": ["biolink:Disease"], "description": "A oligodendroglioma that involves the corpus callosum.", "id": "MONDO:0000519", "name": "Corpus callosum oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["corpus callosum oligodendroglioma", "oligodendroglioma of corpus callosum"], "xref": ["DOID:0050901", "GARD:0022788"]}
{"category": ["biolink:Disease"], "description": "An ependymal tumor affecting the parietal lobe of the brain.", "id": "MONDO:0000520", "name": "Parietal lobe ependymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ependymal tumor of parietal lobe", "ependymal tumour of parietal lobe", "parietal lobe ependymal tumor"], "xref": ["DOID:0050903", "GARD:0022789", "MEDGEN:1392382", "NCIT:C131575", "UMLS:C4330935"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.", "id": "MONDO:0000521", "name": "Salivary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of saliva-secreting gland", "carcinoma of salivary gland", "carcinoma of the salivary gland", "saliva-secreting gland carcinoma", "salivary gland carcinoma"], "xref": ["DOID:0050904", "GARD:0027535", "MEDGEN:215302", "NANDO:2200076", "NCIT:C9272", "ONCOTREE:SACA", "UMLS:C0948750"]}
{"category": ["biolink:Disease"], "description": "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.", "id": "MONDO:0000524", "name": "Mixed extragonadal germ cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050907", "GARD:0022790"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0000525", "name": "Cecum villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["caecum villous adenoma", "cecal villous adenoma", "cecum villous adenoma", "villous adenoma of cecum", "villous adenoma of the cecum"], "xref": ["DOID:0050910", "EFO:1000155", "MEDGEN:272438", "NCIT:C5520", "UMLS:C1332869"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.", "id": "MONDO:0000527", "name": "Colon adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of colon", "adenoma of the colon", "colon adenoma", "colonic adenoma"], "xref": ["DOID:0050912", "MEDGEN:1639098", "NCIT:C3864", "UMLS:C4551463"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.", "id": "MONDO:0000530", "name": "Rectum adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of rectum", "adenoma of the rectum", "rectal adenoma", "rectum adenoma"], "xref": ["DOID:0050915", "MEDGEN:266267", "NCIT:C5546", "SCTID:399730005", "UMLS:C1302652"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that involves the bronchus.", "id": "MONDO:0000531", "name": "Bronchus mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bronchus mucoepidermoid carcinoma"], "xref": ["DOID:0050916", "GARD:0022791"]}
{"category": ["biolink:Disease"], "description": "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.", "id": "MONDO:0000532", "name": "Lung combined type small cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050917", "GARD:0022792", "MEDGEN:231029", "NCIT:C9379", "UMLS:C1332165"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that involves the trachea.", "id": "MONDO:0000534", "name": "Trachea mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["trachea mucoepidermoid carcinoma"], "xref": ["DOID:0050919", "GARD:0022793", "MEDGEN:835970", "SCTID:707379000", "UMLS:C3873401"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the pharynx.", "id": "MONDO:0000536", "name": "Pharyngeal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma", "pharyngeal squam. cell carcinoma", "pharyngeal squamous cell carcinoma", "pharyngeal throat squamous cell cancer", "pharynx squamous cell carcinoma"], "xref": ["DOID:0050921", "EFO:1001965", "GARD:0022794", "MEDGEN:728086", "NCIT:C102872", "SCTID:408649007", "UMLS:C1319317"]}
{"category": ["biolink:Disease"], "description": "A rhabdoid tumor that involves the striated muscle tissue.", "id": "MONDO:0000539", "name": "Striated muscle rhabdoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["striated muscle tissue rhabdoid tumor", "striated muscle tissue rhabdoid tumour"], "xref": ["DOID:0050924", "GARD:0022795"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0000540", "name": "Small intestinal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor of small bowel", "carcinoid tumor of small intestine", "carcinoid tumor of the small bowel", "carcinoid tumor of the small intestine", "carcinoid tumour of small bowel", "carcinoid tumour of small intestine", "carcinoid tumour of the small bowel", "carcinoid tumour of the small intestine", "grade 1 neuroendocrine neoplasm of small intestine", "small bowel carcinoid tumor", "small bowel carcinoid tumour", "small intestinal NET G1", "small intestinal carcinoid tumor", "small intestinal carcinoid tumour", "small intestinal neuroendocrine tumor G1", "small intestine NET G1", "small intestine carcinoid tumor", "small intestine carcinoid tumor (disease)", "small intestine carcinoid tumour", "small intestine carcinoid tumour (disease)", "small intestine neuroendocrine neoplasm G1", "small intestine neuroendocrine tumor, well differentiated, low grade"], "xref": ["DOID:0050925", "GARD:0022796", "MEDGEN:91150", "NCIT:C4638", "SCTID:276818002", "UMLS:C0349536"]}
{"category": ["biolink:Disease"], "description": "A adenocarcinoma that involves the jejunum.", "id": "MONDO:0000541", "name": "Jejunal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["jejunal adenocarcinoma", "jejunal adenocarcinoma (disease)", "jejunum adenocarcinoma"], "xref": ["DOID:0050926", "GARD:0022797", "HP:0030411", "MEDGEN:893029", "NCIT:C181158", "UMLS:C4072935"]}
{"category": ["biolink:Disease"], "description": "A melanoma (disease) that involves the ovary.", "id": "MONDO:0000543", "name": "Ovarian melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metastatic melanoma of ovary", "ovary melanoma (disease)", "ovary metastatic melanoma"], "xref": ["DOID:0050928", "MEDGEN:1790038", "NCIT:C178441", "UMLS:C4761026"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from a mucosal site.", "id": "MONDO:0000544", "name": "Mucosal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mucosal melanoma"], "xref": ["DOID:0050929", "MEDGEN:857816", "NCIT:C114828", "UMLS:C3898222"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the sublingual gland.", "id": "MONDO:0000545", "name": "Sublingual gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sublingual gland adenoid cystic carcinoma"], "xref": ["DOID:0050930", "GARD:0022798"]}
{"category": ["biolink:Disease"], "description": "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.", "id": "MONDO:0000548", "name": "Ovarian clear cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant ovarian clear cell neoplasm", "malignant ovarian clear cell tumor", "malignant ovarian clear cell tumour"], "xref": ["DOID:0050934", "GARD:0022799", "MEDGEN:276544", "NCIT:C40077", "UMLS:C1518230"]}
{"category": ["biolink:Disease"], "description": "A relatively uncommon neuroblastoma that is found in the neck.", "id": "MONDO:0000549", "name": "Cervical neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neck neuroblastoma", "neuroblastoma of neck"], "xref": ["DOID:0050935", "GARD:0022800", "MEDGEN:1876533", "UMLS:C5985049"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.", "id": "MONDO:0000550", "name": "Extra-adrenal sympathetic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extra-adrenal Chromaffinoma", "extra-adrenal chromaffin neoplasm", "extra-adrenal pheochromocytoma", "extra-adrenal sympathetic Paraganglionic neoplasm", "extra-adrenal sympathetic paraganglioma", "extraadrenal pheochromocytoma"], "xref": ["DOID:0050936", "EFO:0000489", "GARD:0022801", "MEDGEN:263453", "NCIT:C48576", "UMLS:C1257877"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma that involves the retroperitoneal space.", "id": "MONDO:0000551", "name": "Retroperitoneal neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neuroblastoma of retroperitoneal space", "retroperitoneal space neuroblastoma"], "xref": ["DOID:0050937", "GARD:0022802", "MEDGEN:1843500", "UMLS:C2211613"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.", "id": "MONDO:0000552", "name": "Breast lobular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of lobule of mammary gland", "lobular adenocarcinoma", "lobular breast carcinoma", "lobular carcinoma", "lobular carcinoma of breast", "lobular carcinoma of the breast", "lobule of mammary gland carcinoma"], "xref": ["DOID:0050938", "EFO:0008509", "ICDO:8520/3", "MEDGEN:64634", "NCIT:C3771", "SCTID:278054005", "UMLS:C0206692"]}
{"category": ["biolink:Disease"], "description": "A endometrial carcinoma (disease) that involves the body of uterus.", "id": "MONDO:0000553", "name": "Uterine corpus endometrial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["body of uterus endometrial carcinoma (disease)", "endometrial carcinoma (disease) of body of uterus"], "xref": ["DOID:0050939"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.", "id": "MONDO:0000554", "name": "Endocervical adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endocervical adenocarcinoma, usual type", "endocervix adenocarcinoma"], "xref": ["DOID:0050940", "GARD:0022803", "MEDGEN:688039", "NCIT:C127907", "ONCOTREE:ECAD", "SCTID:123842006", "UMLS:C1263762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000563", "name": "Grid2-related autosomal dominant spinocerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050988", "GARD:0022804"]}
{"category": ["biolink:Disease"], "description": "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.", "id": "MONDO:0000565", "name": "Infective endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["endocarditis infective"], "xref": ["DOID:0060000", "GARD:0006337", "ICD9:136.9", "MEDGEN:323818", "NCIT:C78265", "NORD:1091", "Orphanet:570762", "SCTID:233850007", "UMLS:C1541923", "icd11.foundation:512128824"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the central nervous system.", "id": "MONDO:0000568", "name": "Autoimmune disorder of central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central nervous system autoimmune disease", "central nervous system hypersensitivity reaction type II disease"], "xref": ["DOID:0060004", "EFO:0020092"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the endocrine system.", "id": "MONDO:0000569", "name": "Autoimmune disorder of endocrine system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endocrine system autoimmune disease", "endocrine system hypersensitivity reaction type II disease"], "xref": ["DOID:0060005", "ICD9:279.49", "MEDGEN:575099", "SCTID:237822008", "UMLS:C0342552"]}
{"category": ["biolink:Disease"], "description": "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.", "id": "MONDO:0000572", "name": "Recombinase activating gene 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["recombinase activating gene 1 deficiency"], "xref": ["DOID:0060011", "GARD:0022805"]}
{"category": ["biolink:Disease"], "description": "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.", "id": "MONDO:0000573", "name": "Recombinase activating gene 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["recombinase activating gene 2 deficiency"], "xref": ["DOID:0060012", "GARD:0022806"]}
{"category": ["biolink:Disease"], "description": "Anemia, the cause of which is present at birth.", "id": "MONDO:0000577", "name": "Congenital anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital anaemia (disease)", "congenital anemia", "congenital anemia (disease)"], "xref": ["GARD:0022807", "MEDGEN:102361", "NCIT:C35228", "SCTID:63565007", "UMLS:C0158995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000583", "name": "Immunoglobulin beta deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060026", "GARD:0022808", "MEDGEN:502457", "MESH:C567200", "UMLS:C3502055"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the exocrine system.", "id": "MONDO:0000586", "name": "Autoimmune disorder of exocrine system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["exocrine system autoimmune disease", "exocrine system hypersensitivity reaction type II disease"], "xref": ["DOID:0060029"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of otorhinolaryngologic disease.", "id": "MONDO:0000587", "name": "Autoimmune disease of ear, nose and throat", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["autoimmune otorhinolaryngologic disease"], "xref": ["DOID:0060030"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.", "id": "MONDO:0000588", "name": "Autoimmune disorder of gastrointestinal tract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alimentary part of gastrointestinal system autoimmune disease", "alimentary part of gastrointestinal system hypersensitivity reaction type II disease", "autoimmune disease of alimentary part of gastrointestinal system"], "xref": ["DOID:0060031"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the musculoskeletal system.", "id": "MONDO:0000589", "name": "Autoimmune disorder of musculoskeletal system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["musculoskeletal system autoimmune disease", "musculoskeletal system hypersensitivity reaction type II disease"], "xref": ["DOID:0060032"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the peripheral nervous system.", "id": "MONDO:0000590", "name": "Autoimmune disorder of peripheral nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["peripheral nervous system autoimmune disease", "peripheral nervous system hypersensitivity reaction type II disease"], "xref": ["DOID:0060033"]}
{"category": ["biolink:Disease"], "description": "A cardiomyopathy that is due to abnormalities in heart muscle cells.", "id": "MONDO:0000591", "name": "Intrinsic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["intrinsic cardiomyopathy", "primary cardiomyopathy"], "xref": ["DOID:0060036", "GARD:0022809"]}
{"category": ["biolink:Disease"], "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.", "id": "MONDO:0000592", "name": "Specific developmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060038", "ICD9:315.8", "MEDGEN:508157", "SCTID:10720004", "UMLS:C0037785"]}
{"category": ["biolink:Disease"], "description": "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.", "id": "MONDO:0000594", "name": "Pervasive developmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060040", "GARD:0027041", "ICD9:299.80", "MEDGEN:99336", "MESH:D002659", "NCIT:C97179", "SCTID:35919005", "UMLS:C0524528"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.", "id": "MONDO:0000595", "name": "Sexual disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["sexual disorder"], "xref": ["DOID:0060043", "MEDGEN:1876492", "NCIT:C92202", "SCTID:231532002", "UMLS:C5979968"]}
{"category": ["biolink:Disease"], "description": "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)", "id": "MONDO:0000596", "name": "Paraphilic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of sexual preference", "disorder, Paraphilic", "disorders, Paraphilic", "paraphilic disorder"], "xref": ["DOID:0060044", "MEDGEN:18299", "MESH:D010262", "SCTID:50299009", "UMLS:C0030482"]}
{"category": ["biolink:Disease"], "description": "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.", "id": "MONDO:0000597", "name": "Munchausen by proxy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Munchausen by proxy syndrome", "Munchausen syndrome by proxy"], "xref": ["DOID:0060045", "MEDGEN:88372", "MESH:D016735", "SCTID:95637005", "UMLS:C0085277"]}
{"category": ["biolink:Disease"], "description": "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.", "id": "MONDO:0000598", "name": "Aphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060046", "ICD10CM:R47.01", "MEDGEN:8159", "MESH:D001037", "UMLS:C0003537", "icd11.foundation:1167055901"]}
{"category": ["biolink:Disease"], "description": "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.", "id": "MONDO:0000599", "name": "Writing disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060047", "MEDGEN:1843493", "UMLS:C0860614"]}
{"category": ["biolink:Disease"], "description": "A specific phobia that involves an irrational fear of contracting a disease.", "id": "MONDO:0000600", "name": "Nosophobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060048", "MEDGEN:637105", "UMLS:C0522182"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the blood.", "id": "MONDO:0000602", "name": "Autoimmune disorder of blood", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blood autoimmune disease", "blood hypersensitivity reaction type II disease"], "xref": ["DOID:0060050"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity reaction type II disease that involves the cardiovascular system.", "id": "MONDO:0000603", "name": "Autoimmune disorder of cardiovascular system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiovascular system autoimmune disease", "cardiovascular system hypersensitivity reaction type II disease"], "xref": ["DOID:0060051"]}
{"category": ["biolink:Disease"], "description": "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.", "id": "MONDO:0000605", "name": "Hypersensitivity reaction disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypersensitive", "hypersensitivity", "hypersensitivity reaction"], "xref": ["DOID:0060056", "EFO:1002003", "MEDGEN:759636", "NCIT:C3114", "SCTID:473010000", "UMLS:C3532523"]}
{"category": ["biolink:Disease"], "description": "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.", "id": "MONDO:0000607", "name": "Primary cutaneous t-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CTCL", "PCTCL", "T-cell non-Hodgkin's lymphoma of skin", "T-cell non-Hodgkin's lymphoma of the skin", "cutaneous T cell lymphoma", "cutaneous T-cell lymphoma", "cutaneous T-cell non-Hodgkin lymphoma", "cutaneous T-cell non-Hodgkin's lymphoma", "primary cutaneous T-cell non-Hodgkin lymphoma", "primary cutaneous T-cell non-Hodgkin's lymphoma", "skin T-cell non-Hodgkin's lymphoma"], "xref": ["DOID:0060061", "EFO:0002913", "GARD:0022811", "ICDO:9709/3", "MESH:D016410", "NCIT:C3467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000608", "name": "Familial juvenile hyperuricemic nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["FJHN", "familial juvenile gouty nephropathy", "familial juvenile hyperuricemic nephropathy", "familial nephropathy associated with hyperuricemia", "familial nephropathy with gout", "gouty nephropathy, familial juvenile", "juvenile gout", "juvenile gouty nephropathy", "nephropathy, familial, with gout", "tubulointerstitial kidney disease"], "xref": ["DOID:0060062", "MESH:C537696", "NANDO:2100014", "NANDO:2200139", "OMIMPS:162000", "SCTID:46785007", "icd11.foundation:1143722735"]}
{"category": ["biolink:Disease"], "description": "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).", "id": "MONDO:0000610", "name": "Marantic endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["nonbacterial thrombotic endocarditis"], "xref": ["DOID:0060068", "GARD:0022812", "MEDGEN:452215", "MESH:D059905", "SCTID:57181007", "UMLS:C0221390"]}
{"category": ["biolink:Disease"], "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "id": "MONDO:0000611", "name": "Pre-malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060071", "MEDGEN:1837212", "UMLS:C5817154"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the lymphatic part of lymphoid system", "id": "MONDO:0000612", "name": "Lymphatic system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of lymphatic part of lymphoid system", "lymphatic part of lymphoid system cancer", "malignant lymphatic part of lymphoid system neoplasm", "malignant neoplasm of lymphatic part of lymphoid system"], "xref": ["DOID:0060073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000615", "name": "Progesterone-receptor positive breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060077", "MEDGEN:1843473", "UMLS:C4733094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000616", "name": "Progesterone-receptor negative breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000618", "name": "Her2-receptor negative breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060080", "EFO:0009780", "MEDGEN:1684659", "NCIT:C168519", "SCTID:431396003", "UMLS:C4733095"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from the breast parenchyma.", "id": "MONDO:0000620", "name": "Breast benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign breast neoplasm", "benign breast tumor", "benign breast tumour", "benign neoplasm of breast", "benign neoplasm of the breast", "benign tumor of breast", "benign tumor of the breast", "benign tumour of breast", "benign tumour of the breast", "breast benign neoplasm"], "xref": ["DOID:0060082", "ICD10CM:D24", "ICD9:217", "MEDGEN:91085", "NCIT:C4505", "SCTID:269485000", "UMLS:C0346156", "icd11.foundation:2120366482"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the immune system", "id": "MONDO:0000621", "name": "Immune system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of immune system", "immune system cancer", "malignant immune system neoplasm", "malignant neoplasm of immune system"], "xref": ["DOID:0060083"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.", "id": "MONDO:0000624", "name": "Benign female reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign female reproductive system neoplasm", "benign female reproductive system tumor", "benign female reproductive system tumour", "benign gynecologic neoplasm", "benign gynecologic tumor", "benign gynecologic tumour", "female reproductive organ benign neoplasm"], "xref": ["DOID:0060086", "MEDGEN:152872", "NCIT:C4934", "UMLS:C0744514"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.", "id": "MONDO:0000625", "name": "Benign male reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign Male reproductive system neoplasm", "benign Male reproductive system tumor", "benign Male reproductive system tumour", "male reproductive organ benign neoplasm"], "xref": ["DOID:0060087", "MEDGEN:181751", "NCIT:C4777", "UMLS:C0947786"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the vestibular gland.", "id": "MONDO:0000626", "name": "Vestibular gland benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vestibular gland benign neoplasm"], "xref": ["DOID:0060088"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.", "id": "MONDO:0000627", "name": "Benign endocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign endocrine gland neoplasm", "benign endocrine gland tumor", "benign endocrine gland tumour", "benign endocrine neoplasm", "benign endocrine tumor", "benign endocrine tumour", "benign neoplasm of endocrine gland", "benign neoplasm of the endocrine gland", "benign tumor of endocrine gland", "benign tumor of the endocrine gland", "benign tumour of endocrine gland", "benign tumour of the endocrine gland", "endocrine gland benign neoplasm"], "xref": ["DOID:0060089", "ICD9:227.8", "ICD9:227.9", "MEDGEN:87577", "NCIT:C4621", "SCTID:92085000", "UMLS:C0347524"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the central nervous system.", "id": "MONDO:0000628", "name": "Central nervous system organ benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central nervous system benign neoplasm"], "xref": ["DOID:0060090", "MEDGEN:488882", "NCIT:C188049", "UMLS:C0347509"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the cardiovascular system.", "id": "MONDO:0000629", "name": "Cardiovascular organ benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiovascular system benign neoplasm"], "xref": ["DOID:0060091", "MEDGEN:1843462", "UMLS:C0848083"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the immune organ.", "id": "MONDO:0000630", "name": "Immune system organ benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["immune organ benign neoplasm"], "xref": ["DOID:0060092"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.", "id": "MONDO:0000631", "name": "Bone benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign bone neoplasm", "benign bone tumor", "benign bone tumour", "benign neoplasm of bone", "benign neoplasm of the bone", "benign osseous neoplasm", "benign osseous tumor", "benign osseous tumour", "benign tumor of bone", "benign tumor of the bone", "benign tumour of bone", "benign tumour of the bone", "bone tissue benign neoplasm"], "xref": ["DOID:0060094", "GARD:0022813", "ICD9:213.9", "MEDGEN:146337", "NCIT:C4880", "SCTID:92027006", "UMLS:C0684516"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.", "id": "MONDO:0000632", "name": "Uterine benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Uterous neoplasms, benign", "Uterous tumors, benign", "benign neoplasm of the uterus", "benign neoplasm of uterus", "benign tumor of the uterus", "benign tumor of uterus", "benign tumour of the uterus", "benign tumour of uterus", "benign uterine neoplasm", "benign uterine neoplasms", "benign uterine tumor", "benign uterine tumors", "benign uterine tumour", "benign uterine tumours", "benign uterus neoplasm", "benign uterus neoplasms", "benign uterus tumor", "benign uterus tumors", "benign uterus tumour", "benign uterus tumours", "uterine neoplasms, benign", "uterine tumors, benign", "uterus benign neoplasm"], "xref": ["DOID:0060095", "ICD9:219.8", "ICD9:219.9", "MEDGEN:57809", "NCIT:C3609", "SCTID:92470003", "UMLS:C0153999"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the sense organ.", "id": "MONDO:0000633", "name": "Sensory organ benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sense organ benign neoplasm"], "xref": ["DOID:0060096"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.", "id": "MONDO:0000634", "name": "Thoracic benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the thorax", "benign neoplasm of thorax", "benign thoracic neoplasm", "benign thoracic tumor", "benign thoracic tumour", "benign tumor of the thorax", "benign tumor of thorax", "benign tumour of the thorax", "benign tumour of thorax", "thoracic segment of trunk benign neoplasm"], "xref": ["DOID:0060097", "ICD9:229.8", "MEDGEN:138065", "NCIT:C4565", "SCTID:255059002", "UMLS:C0346440"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the musculoskeletal system.", "id": "MONDO:0000636", "name": "Musculoskeletal system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["musculoskeletal system benign neoplasm"], "xref": ["DOID:0060099", "MEDGEN:1709701", "NCIT:C166356", "UMLS:C5237920"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the musculoskeletal system", "id": "MONDO:0000637", "name": "Musculoskeletal system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of musculoskeletal system", "malignant musculoskeletal system neoplasm", "malignant neoplasm of musculoskeletal system", "musculoskeletal system cancer"], "xref": ["DOID:0060100", "MEDGEN:1714562", "NCIT:C166357", "UMLS:C0036210"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a cartilage tissue.", "id": "MONDO:0000639", "name": "Cartilage cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of cartilage tissue", "cartilage tissue cancer", "cartilaginous cancer", "malignant cartilage tissue neoplasm", "malignant neoplasm of cartilage tissue"], "xref": ["DOID:0060102", "GARD:0006004", "MEDGEN:1843449", "UMLS:C4290064"]}
{"category": ["biolink:Disease"], "description": "A neuroectodermal tumor that involves the central nervous system.", "id": "MONDO:0000640", "name": "Central nervous system primitive neuroectodermal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS PNET", "CNS primitive neuroectodermal neoplasm", "CNS primitive neuroectodermal tumor", "CNS primitive neuroectodermal tumour", "central nervous system PNET", "central nervous system neuroectodermal tumor", "central nervous system neuroectodermal tumour", "central nervous system primitive neuroectodermal neoplasm", "central nervous system primitive neuroectodermal tumor", "central nervous system primitive neuroectodermal tumor (WHO grade IV)", "central nervous system primitive neuroectodermal tumour", "central nervous system primitive neuroectodermal tumour (WHO grade IV)", "central primitive neuroectodermal neoplasm", "central primitive neuroectodermal tumor", "central primitive neuroectodermal tumour", "primitive neuroectodermal tumor of central nervous system", "primitive neuroectodermal tumour of central nervous system"], "xref": ["DOID:0060103", "GARD:0027536", "MEDGEN:854517", "NANDO:2200099", "NANDO:2200100", "NCIT:C5398", "UMLS:C3887678", "icd11.foundation:1711526170"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.", "id": "MONDO:0000643", "name": "Vulvar benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the vulva", "benign neoplasm of vulva", "benign tumor of the vulva", "benign tumor of vulva", "benign tumour of the vulva", "benign tumour of vulva", "benign vulva neoplasm", "benign vulva tumor", "benign vulva tumour", "benign vulval neoplasm", "benign vulvar neoplasm", "benign vulvar tumor", "benign vulvar tumour", "mammalian vulva benign neoplasm", "vulva benign neoplasm"], "xref": ["DOID:0060109", "ICD10CM:D28.0", "MEDGEN:102301", "NCIT:C3611", "SCTID:92486005", "UMLS:C0154003", "icd11.foundation:1032480924"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.", "id": "MONDO:0000644", "name": "Cervical benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cervical neoplasm", "benign cervix uteri neoplasm", "benign cervix uteri tumor", "benign cervix uteri tumour", "benign neoplasm of cervix uteri", "benign neoplasm of the cervix uteri", "benign neoplasm of the uterine cervix", "benign neoplasm of uterine cervix", "benign tumor of cervix uteri", "benign tumor of the cervix uteri", "benign tumor of the uterine cervix", "benign tumor of uterine cervix", "benign tumour of cervix uteri", "benign tumour of the cervix uteri", "benign tumour of the uterine cervix", "benign tumour of uterine cervix", "benign uterine cervix neoplasm", "benign uterine cervix tumor", "benign uterine cervix tumour", "uterine cervix benign neoplasm"], "xref": ["DOID:0060110", "MEDGEN:102300", "NCIT:C3607", "SCTID:92056006", "UMLS:C0153997"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.", "id": "MONDO:0000645", "name": "Fallopian tube benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["benign fallopian tube neoplasm", "benign fallopian tube tumor", "benign fallopian tube tumour", "benign neoplasm of fallopian tube", "benign neoplasm of the fallopian tube", "benign tumor of fallopian tube", "benign tumor of fallopian tubes", "benign tumor of the fallopian tube", "benign tumour of fallopian tube", "benign tumour of fallopian tubes", "benign tumour of the fallopian tube", "fallopian tube benign neoplasm", "fallopian tube neoplasm, benign", "fallopian tube tumor, benign"], "xref": ["DOID:0060111", "GARD:0020203", "MEDGEN:83416", "MedDRA:10053865", "NCIT:C4517", "Orphanet:180237", "SCTID:92100009", "UMLS:C0346190", "icd11.foundation:883442453"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.", "id": "MONDO:0000646", "name": "Ovarian benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of ovary", "benign neoplasm of the ovary", "benign ovarian neoplasm", "benign ovarian tumor", "benign ovarian tumour", "benign tumor of ovary", "benign tumor of the ovary", "benign tumour of ovary", "benign tumour of the ovary", "ovary benign neoplasm"], "xref": ["DOID:0060112", "EFO:1000116", "MEDGEN:14058", "NCIT:C2895", "SCTID:92260003", "UMLS:C0004997", "icd11.foundation:181365103"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.", "id": "MONDO:0000647", "name": "Benign vaginal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the vagina", "benign neoplasm of vagina", "benign tumor of the vagina", "benign tumor of vagina", "benign tumour of the vagina", "benign tumour of vagina", "benign vaginal neoplasm", "benign vaginal neoplasms", "benign vaginal tumor", "benign vaginal tumour", "vagina benign neoplasm", "vagina female reproductive organ benign neoplasm"], "xref": ["DOID:0060114", "ICD10CM:D28.1", "ICD9:221.1", "MEDGEN:57810", "NCIT:C3610", "SCTID:92473001", "UMLS:C0154002", "icd11.foundation:1489085710"]}
{"category": ["biolink:Disease"], "description": "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).", "id": "MONDO:0000648", "name": "Nervous system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of nervous system", "benign neoplasm of the nervous system", "benign nervous system neoplasm", "benign nervous system tumor", "benign nervous system tumour", "benign tumor of nervous system", "benign tumor of the nervous system", "benign tumour of nervous system", "benign tumour of the nervous system", "nervous system benign neoplasm", "nervous system neoplasm, benign"], "xref": ["DOID:0060115", "ICD9:225.8", "ICD9:225.9", "MEDGEN:99232", "NCIT:C4789", "SCTID:92247009", "UMLS:C0497550"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the sensory system", "id": "MONDO:0000649", "name": "Sensory system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of sensory system", "malignant neoplasm of sensory system", "malignant sensory system neoplasm", "sensory system cancer"], "xref": ["DOID:0060116"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.", "id": "MONDO:0000650", "name": "Peritoneal benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign peritoneal neoplasm", "peritoneum benign neoplasm"], "xref": ["DOID:0060117", "MEDGEN:141678", "NCIT:C8612", "UMLS:C0496874", "icd11.foundation:758908914"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the integumental system.", "id": "MONDO:0000652", "name": "Integumentary system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["integumental system benign neoplasm"], "xref": ["DOID:0060121"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the integumental system", "id": "MONDO:0000653", "name": "Integumentary system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of integumental system", "integumental system cancer", "malignant integumental system neoplasm", "malignant neoplasm of integumental system"], "xref": ["DOID:0060122"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.", "id": "MONDO:0000654", "name": "Benign connective and soft tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign connective and soft tissue neoplasm", "benign connective and soft tissue tumor", "benign connective and soft tissue tumour", "benign mesenchymal cell neoplasm", "benign neoplasm of the soft tissue and bone", "benign tumor of the soft tissue and bone", "benign tumour of the soft tissue and bone", "connective and soft tissue neoplasm, benign", "connective tissue benign neoplasm"], "xref": ["DOID:0060123", "MEDGEN:83866", "NCIT:C53684", "UMLS:C0347481"]}
{"category": ["biolink:Disease"], "description": "A heavy chain disease that results from an overproduction of delta antibody (IgD).", "id": "MONDO:0000659", "name": "Delta-heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IgD heavy chain disease", "delta heavy chain disease"], "xref": ["DOID:0060129", "GARD:0022815", "ICD9:203.80", "MEDGEN:543921", "SCTID:20224008", "UMLS:C0272253"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of motion perception.", "id": "MONDO:0000660", "name": "Akinetopsia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060130", "GARD:0022816"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a deficiency in understanding, processing, or describing emotions.", "id": "MONDO:0000661", "name": "Alexithymia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060131", "GARD:0027537", "MEDGEN:194", "UMLS:C0002020"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.", "id": "MONDO:0000662", "name": "Amusia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060132", "GARD:0027538", "MEDGEN:536039", "UMLS:C0234497", "icd11.foundation:777548616"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.", "id": "MONDO:0000663", "name": "Anosognosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060133", "GARD:0027539", "MEDGEN:536043", "UMLS:C0234507", "icd11.foundation:833222383"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to distinguish visual shapes.", "id": "MONDO:0000664", "name": "Apperceptive agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060134", "GARD:0027540"]}
{"category": ["biolink:Disease"], "description": "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.", "id": "MONDO:0000665", "name": "Apraxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Apraxias", "dyspraxia"], "xref": ["DOID:0060135", "ICD10CM:R48.2", "MEDGEN:8166", "MESH:D001072", "NCIT:C180557", "UMLS:C0003635", "icd11.foundation:986651951"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.", "id": "MONDO:0000666", "name": "Associative visual agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060136", "GARD:0027541"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.", "id": "MONDO:0000667", "name": "Auditory agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060137", "GARD:0027542", "MEDGEN:68602", "UMLS:C0234501"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to orient parts of the body.", "id": "MONDO:0000668", "name": "Autotopagnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060138", "GARD:0027543", "MEDGEN:65883", "UMLS:C0234511"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.", "id": "MONDO:0000669", "name": "Color agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060139", "GARD:0027544"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.", "id": "MONDO:0000670", "name": "Cortical deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060140", "GARD:0027545", "MEDGEN:98233", "UMLS:C0392704"]}
{"category": ["biolink:Disease"], "description": "An agnosia characterized by an inability to distinguish, name, or recognize the fingers", "id": "MONDO:0000671", "name": "Finger agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["finger agnosia", "finger agnosia (disease)", "manual digit agnosia"], "xref": ["DOID:0060141", "GARD:0027546", "HP:0010525", "MEDGEN:115960", "UMLS:C0234509"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.", "id": "MONDO:0000672", "name": "Form agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060142", "GARD:0027547", "MEDGEN:107878", "UMLS:C0563621"]}
{"category": ["biolink:Disease"], "description": "Agnosia characterized by the inability to integrate perceptual wholes within knowledge.", "id": "MONDO:0000673", "name": "Integrative agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060143", "GARD:0027548"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.", "id": "MONDO:0000674", "name": "Mirror agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060144", "GARD:0027549"]}
{"category": ["biolink:Disease"], "description": "Loss of the ability to perceive and process pain.", "id": "MONDO:0000675", "name": "Pain agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060145", "EFO:1001484", "GARD:0027550", "MEDGEN:154351", "NCIT:C125664", "UMLS:C0563625"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize familiar voices.", "id": "MONDO:0000676", "name": "Phonagnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060146", "GARD:0027551"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.", "id": "MONDO:0000677", "name": "Semantic agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060147", "GARD:0027552"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.", "id": "MONDO:0000678", "name": "Simultanagnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060148", "GARD:0027553", "MEDGEN:415993", "UMLS:C2827429", "icd11.foundation:1669328667"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.", "id": "MONDO:0000679", "name": "Social emotional agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060149", "GARD:0027554"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.", "id": "MONDO:0000680", "name": "Astereognosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["astereognosia", "astereognosia (disease)"], "xref": ["DOID:0060150", "GARD:0027555", "HP:0010527", "MEDGEN:65881", "UMLS:C0234505", "icd11.foundation:756147896"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognize or identify objects by touch alone.", "id": "MONDO:0000681", "name": "Tactile agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060151", "GARD:0027556"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to comprehend the succession and duration of events.", "id": "MONDO:0000682", "name": "Time agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060152", "GARD:0027557", "MEDGEN:65882", "UMLS:C0234506"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.", "id": "MONDO:0000683", "name": "Topographical agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060153", "GARD:0027558", "MEDGEN:78761", "SCTID:83824009", "UMLS:C0271189"]}
{"category": ["biolink:Disease"], "description": "An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.", "id": "MONDO:0000684", "name": "Verbal auditory agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060154", "GARD:0027559"]}
{"category": ["biolink:Disease"], "description": "An inability to recognize or interpret objects by sight.", "id": "MONDO:0000685", "name": "Visual agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["visual agnosia", "visual agnosia (disease)", "visuoperceptual agnosia"], "xref": ["DOID:0060155", "GARD:0027560", "HP:0030222", "MEDGEN:115959", "NCIT:C35276", "SCTID:25762009", "UMLS:C0234502"]}
{"category": ["biolink:Disease"], "description": "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)", "id": "MONDO:0000686", "name": "Alexia without agraphia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Agnosias, visual verbal", "agnosia, visual verbal", "alexia without agraphia"], "xref": ["DOID:0060156", "GARD:0027561", "MEDGEN:155643", "MESH:D020237", "UMLS:C0751840"]}
{"category": ["biolink:Disease"], "description": "An alopecia areata that involves diffuse loss of hair over the whole scalp.", "id": "MONDO:0000687", "name": "Diffuse alopecia areata", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060157", "GARD:0022817", "MEDGEN:537915", "MESH:C531609", "SCTID:46586006", "UMLS:C0263479", "icd11.foundation:666274267"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.", "id": "MONDO:0000688", "name": "Inborn organic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn error of organic acid metabolic process", "inborn organic acid metabolic process disorder", "organic acidemia", "organic aciduria", "rare inborn error of organic acid metabolic process"], "xref": ["DOID:0060159", "GARD:0009433", "ICD9:277.89", "MEDGEN:66037", "NCIT:C101334", "Orphanet:289899", "UMLS:C0241775", "icd11.foundation:1921636230"]}
{"category": ["biolink:Disease"], "description": "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.", "id": "MONDO:0000690", "name": "Body dysmorphic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dysmorphophobia"], "xref": ["DOID:0060163", "ICD10CM:F45.22", "MEDGEN:2302", "MESH:D057215", "SCTID:83482000", "UMLS:C0005887", "icd11.foundation:731724655"]}
{"category": ["biolink:Disease"], "description": "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.", "id": "MONDO:0000693", "name": "Bipolar ii disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bipolar II disorder"], "xref": ["DOID:0060166", "ICD10CM:F31.81", "ICD9:296.89", "MEDGEN:536634", "SCTID:83225003", "UMLS:C0236788"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.", "id": "MONDO:0000694", "name": "Seasonal affective disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060167", "ICD9:296.99", "MEDGEN:38984", "MESH:D016574", "SCTID:247803002", "UMLS:C0085159"]}
{"category": ["biolink:Disease"], "description": "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.", "id": "MONDO:0000698", "name": "Gamma-amino butyric acid metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["DOID:0060176", "GARD:0018955", "MEDGEN:1842586", "Orphanet:79175", "UMLS:C4702813", "icd11.foundation:1811657969"]}
{"category": ["biolink:Disease"], "description": "A migraine disorder characterized by individual and family history of aura that includes motor weakness.", "id": "MONDO:0000700", "name": "Familial hemiplegic migraine", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHM", "familial hemiplegic migraine", "hereditary hemiplegic migraine"], "xref": ["DOID:0060178", "GARD:0010975", "ICD9:346.8", "MEDGEN:87374", "NCIT:C117009", "OMIMPS:141500", "SCTID:95656000", "UMLS:C0338484", "icd11.foundation:1827007904"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.", "id": "MONDO:0000701", "name": "Ischemic colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060181", "MEDGEN:57930", "MESH:D017091", "SCTID:30588004", "UMLS:C0162529"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the colon that is only apparent by microscopic examination.", "id": "MONDO:0000702", "name": "Microscopic colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060182", "EFO:1001295", "ICD10CM:K52.83", "ICD9:558.9", "MEDGEN:98005", "MESH:D046728", "NCIT:C38504", "Orphanet:58220", "SCTID:235753003", "UMLS:C0400821", "icd11.foundation:1122828822"]}
{"category": ["biolink:Disease"], "description": "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.", "id": "MONDO:0000703", "name": "Collagenous colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060183", "EFO:1001293", "ICD10CM:K52.831", "ICD9:558.9", "MEDGEN:65945", "MESH:D046729", "MedDRA:10048928", "NCIT:C27021", "Orphanet:36205", "SCTID:19311003", "UMLS:C0238067", "icd11.foundation:1322041450"]}
{"category": ["biolink:Disease"], "description": "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.", "id": "MONDO:0000704", "name": "Lymphocytic colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060184", "EFO:1001294", "ICD10CM:K52.832", "ICD9:558.9", "MEDGEN:98006", "MESH:D046730", "MedDRA:10025268", "NCIT:C27147", "Orphanet:65279", "SCTID:31437008", "UMLS:C0400822", "icd11.foundation:1629251056"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.", "id": "MONDO:0000705", "name": "Clostridium difficile colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["C. diff colitis", "C. diff infection", "Clostridioides difficile caused colitis (disease)", "Clostridioides difficile colitis (disease)", "Clostridium difficile infection", "pseudomembranous colitis"], "xref": ["DOID:0060185", "MEDGEN:65946", "MESH:D004761", "MedDRA:10009657", "NCIT:C35286", "SCTID:423590009", "UMLS:C0238106"]}
{"category": ["biolink:Disease"], "description": "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.", "id": "MONDO:0000706", "name": "Chemical colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060186", "ICD9:558", "ICD9:558.9", "SCTID:72965009"]}
{"category": ["biolink:Disease"], "description": "A colitis which can occur as a complication of ileostomy or colostomy.", "id": "MONDO:0000707", "name": "Diversion colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060187", "ICD9:558", "ICD9:558.9", "MEDGEN:540758", "SCTID:51290000", "UMLS:C0267532", "icd11.foundation:553304993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000708", "name": "Crohn jejunoileitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060188", "MEDGEN:1807919", "UMLS:C5686428"]}
{"category": ["biolink:Disease"], "description": "A Crohn disease involving a pathogenic inflammatory response in the ileum.", "id": "MONDO:0000709", "name": "Crohn ileitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Crohn's ileitis"], "xref": ["CSP:1248-5305", "DOID:0060189", "ICD9:558.9", "MEDGEN:82754", "MESH:D007079", "MedDRA:10021312", "NCIT:C35329", "NDFRT:N0000001662", "SCTID:52457000", "UMLS:C0267380", "icd11.foundation:1699481566"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.", "id": "MONDO:0000710", "name": "Gastroduodenal crohn disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gastroduodenal Crohn's disease"], "xref": ["DOID:0060191", "MEDGEN:1613956", "UMLS:C4544979"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the lymph node.", "id": "MONDO:0000715", "name": "Lymph node adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymph node adenoid cystic carcinoma"], "xref": ["DOID:0060219", "GARD:0022818"]}
{"category": ["biolink:Disease"], "description": "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.", "id": "MONDO:0000716", "name": "Agraphia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060223", "MEDGEN:1790", "MESH:D000381", "UMLS:C0001825", "icd11.foundation:1372096058"]}
{"category": ["biolink:Disease"], "description": "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.", "id": "MONDO:0000721", "name": "Xanthinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:277.2", "MEDGEN:450997", "NANDO:2200588", "SCTID:190919008", "UMLS:C0220988", "icd11.foundation:1565213608"]}
{"category": ["biolink:Disease"], "description": "A synpolydactyly that is not part of a larger syndrome.", "id": "MONDO:0000722", "name": "Non-syndromic synpolydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["isolated synpolydactyly", "nonsyndromic synpolydactyly"], "xref": ["DOID:0060242", "GARD:0022819"]}
{"category": ["biolink:Disease"], "description": "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.", "id": "MONDO:0000723", "name": "Stutter disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stutter"], "xref": ["DOID:0060243", "MEDGEN:20932", "NCIT:C35043", "OMIMPS:184450", "UMLS:C0038131"]}
{"category": ["biolink:Disease"], "description": "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.", "id": "MONDO:0000724", "name": "Specific language impairment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["language impairment (disease)"], "xref": ["DOID:0060244", "EFO:1001510", "MEDGEN:627772", "OMIMPS:606711", "Orphanet:458713", "UMLS:C0454651", "icd11.foundation:862918022"]}
{"category": ["biolink:Disease"], "description": "A scoliosis with no known cause.", "id": "MONDO:0000726", "name": "Idiopathic scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060250", "MEDGEN:671079", "SCTID:203639008", "UMLS:C0595995", "icd11.foundation:712180005"]}
{"category": ["biolink:Disease"], "description": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.", "id": "MONDO:0000727", "name": "Scapuloperoneal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060253", "GARD:0022820", "MEDGEN:419759", "MESH:C536624", "UMLS:C2931268"]}
{"category": ["biolink:Disease"], "description": "The drooping of the upper eyelid.", "id": "MONDO:0000728", "name": "Ptosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blepharoptosis", "drooping eyelid", "eyelid ptosis", "ptosis", "ptosis (disease)"], "xref": ["DOID:0060260", "HP:0000508", "ICD9:374.3", "ICD9:374.30", "MEDGEN:2287", "MESH:D001763", "NCIT:C27298", "SCTID:11934000", "UMLS:C0005745", "icd11.foundation:1361674069"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected.", "id": "MONDO:0000732", "name": "Combined oxidative phosphorylation deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060286", "GARD:0012893", "MEDGEN:1626645", "OMIMPS:609060", "UMLS:C4540031", "icd11.foundation:1953023896"]}
{"category": ["biolink:Disease"], "description": "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.", "id": "MONDO:0000733", "name": "Cornea plana", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital cornea plana", "flat cornea"], "xref": ["DOID:0060287", "GARD:0016657", "HP:0007720", "ICD10CM:Q13.4", "MEDGEN:576329", "OMIMPS:121400", "Orphanet:53691", "SCTID:204145006", "UMLS:C0344529", "icd11.foundation:262157734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000734", "name": "Ohdo syndrome and variants", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060289", "GARD:0022821"]}
{"category": ["biolink:Disease"], "description": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.", "id": "MONDO:0000736", "name": "Dyschromatosis universalis hereditaria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dyschromatosis universalis"], "xref": ["DOID:0060304", "GARD:0001996", "MEDGEN:419691", "MESH:C535730", "NCIT:C173131", "OMIMPS:127500", "Orphanet:241", "SCTID:239082002", "UMLS:C2930995", "icd11.foundation:480710406"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the uvula.", "id": "MONDO:0000739", "name": "Uvulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of palatine uvula", "palatine uvula inflammation"], "xref": ["DOID:0060310", "ICD9:528.3", "MEDGEN:508266", "MedDRA:10051962", "NCIT:C128385", "SCTID:300932000", "UMLS:C0042174", "icd11.foundation:776797866"]}
{"category": ["biolink:Disease"], "description": "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.", "id": "MONDO:0000740", "name": "Adenoid hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoidal hypertrophy", "enlarged adenoids"], "xref": ["DOID:0060311", "ICD9:474.12", "MEDGEN:628857", "MedDRA:10001229", "SCTID:111591002", "UMLS:C0455938", "icd11.foundation:2068842254"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.", "id": "MONDO:0000741", "name": "Angular cheilitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angle of oral opening cheilitis", "angular cheilitis", "angular stomatitis", "cheilitis of angle of oral opening", "perleche", "perlèche"], "xref": ["DOID:0060312", "MEDGEN:526202", "NCIT:C112198", "SCTID:16459000", "UMLS:C0221237", "icd11.foundation:591060439"]}
{"category": ["biolink:Disease"], "description": "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.", "id": "MONDO:0000743", "name": "Oral hairy leukoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hairy leukoplakia of mouth", "hairy leukoplakia of oral mucosa", "hairy leukoplakia of the mouth", "hairy leukoplakia of the oral mucosa", "mouth hairy leukoplakia", "oral cavity hairy leukoplakia", "oral hairy keratosis"], "xref": ["DOID:0060315", "ICD10CM:K13.3", "ICD9:528.6", "MEDGEN:104797", "MESH:D017733", "NCIT:C3722", "SCTID:414952002", "UMLS:C0206186", "icd11.foundation:2106872801"]}
{"category": ["biolink:Disease"], "description": "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.", "id": "MONDO:0000744", "name": "Lung abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lung abscess", "lung abscess (disease)"], "xref": ["DOID:0060317", "EFO:1001362", "HP:0025044", "ICD9:513.0", "MEDGEN:7397", "MESH:D008169", "NCIT:C99090", "SCTID:73452002", "UMLS:C0024110"]}
{"category": ["biolink:Disease"], "description": "Cessation of breathing and/or cardiac function.", "id": "MONDO:0000745", "name": "Cardiac arrest", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circulatory arrest"], "xref": ["DOID:0060319", "ICD10CM:I46", "ICD10WHO:I46", "ICD9:427.5", "MEDGEN:5456", "MESH:D006323", "SCTID:410429000", "UMLS:C0018790", "icd11.foundation:395422191"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.", "id": "MONDO:0000748", "name": "Mastoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of mastoid process of temporal bone", "mastoid process of temporal bone inflammation", "mastoid process of temporal boneitis", "mastoiditis", "mastoiditis (disease)"], "xref": ["DOID:0060322", "HP:0000265", "ICD9:383.9", "MEDGEN:7480", "MESH:D008417", "NCIT:C128368", "SCTID:52404001", "UMLS:C0024904"]}
{"category": ["biolink:Disease"], "description": "A breast disease characterized by a collection of pus in the breast.", "id": "MONDO:0000749", "name": "Breast abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060323", "MEDGEN:508760", "SCTID:28432003", "UMLS:C0151463", "icd11.foundation:1033306788"]}
{"category": ["biolink:Disease"], "description": "A tooth disease characterized by a localized collection of pus associated with a tooth.", "id": "MONDO:0000750", "name": "Dental abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060324", "MEDGEN:99235", "SCTID:299709002", "UMLS:C0518988"]}
{"category": ["biolink:Disease"], "description": "A polyp that arises from the surface of the cervix.", "id": "MONDO:0000751", "name": "Cervical polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenomatous polyp of cervix", "adenomatous polyp of the cervix", "adenomatous polyp of the uterine cervix", "adenomatous polyp of uterine cervix", "cervical polyp", "cervical polyp (disease)", "cervix adenomatous polyp", "cervix polyp", "cervix uteri adenomatous polyp", "cervix uteri polyp", "polyp of cervix", "polyp of cervix uteri", "polyp of the cervix", "polyp of the cervix uteri", "polyp of the uterine cervix", "polyp of uterine cervix", "uterine cervix adenomatous polyp", "uterine cervix polyp"], "xref": ["DOID:0060325", "HP:0030159", "ICD10CM:N84.1", "ICD9:219", "MEDGEN:507540", "NCIT:C2939", "SCTID:65576009", "UMLS:C0007855", "icd11.foundation:396198272"]}
{"category": ["biolink:Disease"], "description": "An intestinal disorder characterized by an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.", "id": "MONDO:0000754", "name": "Anal fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anal fistula", "anal fistula (disease)", "anorectal fistula"], "xref": ["DOID:0060328", "GARD:0020568", "HP:0010447", "ICD10CM:K60.3", "MEDGEN:61482", "MESH:D012003", "NCIT:C60785", "Orphanet:228113", "SCTID:72779005", "UMLS:C0205929", "icd11.foundation:206903882"]}
{"category": ["biolink:Disease"], "description": "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.", "id": "MONDO:0000755", "name": "Ectopic pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extrauterine pregnancy", "pregnancy, ectopic"], "xref": ["DOID:0060329", "ICD10WHO:O00", "ICD9:633", "ICD9:633.8", "ICD9:633.9", "ICD9:633.90", "MEDGEN:18618", "MESH:D011271", "NCIT:C34945", "SCTID:34801009", "UMLS:C0032987", "icd11.foundation:1563334645"]}
{"category": ["biolink:Disease"], "description": "An embryonal rhabdomyosarcoma located in the parameningeal region.", "id": "MONDO:0000756", "name": "Parameningeal embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060338", "GARD:0022822"]}
{"category": ["biolink:Disease"], "description": "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.", "id": "MONDO:0000757", "name": "Glucocorticoid-induced osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060343"]}
{"category": ["biolink:Disease"], "description": "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.", "id": "MONDO:0000758", "name": "Bacillary angiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bartonella angiomatosis", "Bartonella caused angiomatosis", "bacillary angiomatosis", "bacillary epithelioid angiomatosis", "epithelioid angiomatosis"], "xref": ["DOID:0060345", "ICD9:083.8", "MEDGEN:88409", "MESH:D016917", "NCIT:C3477", "SCTID:58213005", "UMLS:C0085434", "icd11.foundation:1416616903"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the absence of a part of a chromosome.", "id": "MONDO:0000761", "name": "Syndrome caused by partial chromosomal deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["microdeletion syndrome"], "xref": ["DOID:0060388"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.", "id": "MONDO:0000762", "name": "Syndrome caused by partial chromosomal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microduplication sydrome"], "xref": ["DOID:0060429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000763", "name": "Epithelial and subepithelial corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060440", "GARD:0022826"]}
{"category": ["biolink:Disease"], "description": "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.", "id": "MONDO:0000764", "name": "Epithelial-stromal tgfbi dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TGFBI corneal dystrophy (disease)", "corneal dystrophy (disease) caused by mutation in TGFBI"], "xref": ["DOID:0060441", "GARD:0022827"]}
{"category": ["biolink:Disease"], "description": "A corneal dystrophy (disease) that involves the corneal epithelium.", "id": "MONDO:0000766", "name": "Corneal endothelial dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["corneal dystrophy (disease) of corneal epithelium"], "xref": ["DOID:0060443", "GARD:0022828", "ICD9:371.57", "MEDGEN:1779156", "SCTID:416960004", "UMLS:C5441823"]}
{"category": ["biolink:Disease"], "description": "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.", "id": "MONDO:0000771", "name": "Allergic respiratory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic form of respiratory system disease", "allergic respiratory system disease"], "xref": ["DOID:0060496", "MEDGEN:734246", "UMLS:C1504369"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of peripheral neuropathy.", "id": "MONDO:0000774", "name": "Autoimmune neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0040087", "DOID:0060499", "GARD:0022829", "MEDGEN:1843469", "UMLS:C2748363"]}
{"category": ["biolink:Disease"], "description": "Immunologically mediated adverse reactions to medicinal substances used legally or illegally.", "id": "MONDO:0000775", "name": "Drug allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergy of exposure to drug", "exposure to drug allergic disease"], "xref": ["DOID:0060500", "EFO:0009482", "MEDGEN:41663", "MESH:D004342", "UMLS:C0013182"]}
{"category": ["biolink:Disease"], "description": "A allergic disease that involves the digestive tract.", "id": "MONDO:0000777", "name": "Gastrointestinal allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["allergic disease of digestive tract", "digestive tract allergic disease"], "xref": ["DOID:0060502", "MEDGEN:1843477", "UMLS:C0221034"]}
{"category": ["biolink:Disease"], "description": "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.", "id": "MONDO:0000807", "name": "Latex allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060532", "ICD9:989.82", "ICD9:995.3", "ICD9:V15.07", "MEDGEN:107909", "MESH:D020315", "SCTID:300916003", "UMLS:C0577628"]}
{"category": ["biolink:Disease"], "description": "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.", "id": "MONDO:0000809", "name": "Purpura fulminans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060538", "GARD:0022830", "MEDGEN:88448", "MESH:D055665", "SCTID:13507004", "UMLS:C0085650", "icd11.foundation:1293848111"]}
{"category": ["biolink:Disease"], "description": "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.", "id": "MONDO:0000811", "name": "Anomalous left coronary artery from the pulmonary artery", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ALCAPA disorder", "BWGS", "Bland-White-Garland syndrome"], "xref": ["DOID:0060562", "GARD:0027562", "MEDGEN:760471", "MESH:D063748", "NANDO:2200242", "UMLS:C1735886"]}
{"category": ["biolink:Disease"], "description": "A disease involving the vertebral column.", "id": "MONDO:0000812", "name": "Vertebral column disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of spine", "disease of vertebral column", "disease or disorder of vertebral column", "disorder of vertebral column", "vertebral column disease", "vertebral column disease or disorder"], "xref": ["DOID:0060564", "ICD9:724.9", "MEDGEN:52455", "MESH:D013122", "SCTID:699699005", "UMLS:C0037933", "icd11.foundation:1989556002"]}
{"category": ["biolink:Disease"], "description": "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.", "id": "MONDO:0000813", "name": "Cardiac tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060570", "GARD:0022831", "MEDGEN:1830134", "MESH:D014381", "UMLS:C5704594"]}
{"category": ["biolink:Disease"], "description": "An acute B-lymphoblastic leukemia occurring in adults.", "id": "MONDO:0000814", "name": "B-cell adult acute lymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["B cell adult ALL", "B cell adult acute lymphoblastic leukaemia", "B cell adult acute lymphoblastic leukemia", "B cell adult acute lymphocytic leukaemia", "B cell adult acute lymphocytic leukemia", "B-cell adult ALL", "B-cell adult acute lymphoblastic leukaemia", "B-cell adult acute lymphoblastic leukemia", "B-cell childhood acute lymphoblastic leukaemia of adults", "B-cell childhood acute lymphoblastic leukemia of adults", "adult B acute lymphoblastic leukemia", "adult B cell ALL", "adult B cell acute lymphoblastic leukaemia", "adult B cell acute lymphoblastic leukemia", "adult B cell acute lymphocytic leukaemia", "adult B cell acute lymphocytic leukemia", "adult B-cell ALL", "adult B-cell acute lymphoblastic leukemia", "adult B-cell acute lymphocytic leukaemia", "adult B-cell acute lymphocytic leukemia", "adult B-cell childhood acute lymphoblastic leukaemia", "adult B-cell childhood acute lymphoblastic leukemia", "adult precursor B-lymphoblastic leukaemia", "adult precursor B-lymphoblastic leukemia"], "xref": ["DOID:0060592", "EFO:1001935", "GARD:0022832", "MEDGEN:79010", "NCIT:C9143", "UMLS:C0279593"]}
{"category": ["biolink:Disease"], "description": "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.", "id": "MONDO:0000815", "name": "Fetal nicotine spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000816", "name": "Abdominal obesity-metabolic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["metabolic syndrome"], "xref": ["DOID:0060611", "ICD10CM:E88.81", "MEDGEN:419670", "MESH:C535554", "NCIT:C84442", "OMIMPS:605552", "Orphanet:411969", "UMLS:C2930930", "icd11.foundation:1824742930"]}
{"category": ["biolink:Disease"], "description": "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.", "id": "MONDO:0000819", "name": "Anencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["anencephalus"], "xref": ["DOID:0060668", "GARD:0027563", "ICD10CM:Q00.0", "MEDGEN:8068", "MESH:D000757", "NCIT:C84560", "OMIMPS:206500", "UMLS:C0002902", "icd11.foundation:1292761836"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.", "id": "MONDO:0000820", "name": "Cerebral cavernous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CCM", "brain cavernous hemangioma", "cerebral cavernous malformation"], "xref": ["DOID:0060669", "MEDGEN:418825", "NCIT:C84626", "Orphanet:164", "UMLS:C2919945", "icd11.foundation:916773262"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000824", "name": "Congenital diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diarrhea, congenital"], "xref": ["DOID:0060774", "MEDGEN:1877146", "OMIMPS:214700", "UMLS:C6013449"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus salmonella.", "id": "MONDO:0000827", "name": "Salmonellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["Salmonella infection", "rare form of salmonellosis"], "xref": ["DOID:0060859", "ICD9:003.8", "ICD9:003.9", "MEDGEN:48542", "MESH:D012480", "MedDRA:10039447", "NCIT:C157974", "Orphanet:795", "SCTID:302231008", "UMLS:C0036117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000828", "name": "Juvenile-onset parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060893", "GARD:0022833", "MEDGEN:155699", "UMLS:C0752105"]}
{"category": ["biolink:Disease"], "description": "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.", "id": "MONDO:0000831", "name": "Thrombotic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Clots, blood", "Thromboses", "blood Clots", "blood clot", "clot, blood", "thrombosis", "thrombotic disorder", "thrombus"], "xref": ["DOID:0060903", "ICD9:453.9", "MEDGEN:21160", "MESH:D013927", "NCIT:C26891", "SCTID:439127006", "UMLS:C0040053"]}
{"category": ["biolink:Disease"], "description": "A bone disease that results in formation or resorption abnormalities located in bone.", "id": "MONDO:0000833", "name": "Bone remodeling disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000836", "name": "Disease of bone structure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080010", "MEDGEN:1843487", "UMLS:C0477681"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.", "id": "MONDO:0000837", "name": "Bone resorption disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080011", "MEDGEN:14188", "MESH:D001862", "UMLS:C0005974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000839", "medic_stub": true, "name": "obsolete congenital abnormality", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.", "id": "MONDO:0000840", "name": "Dysbaric osteonecrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080018", "GARD:0022834", "MEDGEN:782135", "SCTID:431591000124102", "UMLS:C3494941"]}
{"category": ["biolink:Disease"], "description": "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.", "id": "MONDO:0000845", "name": "Fibrous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fibrous dysplasia of bone"], "xref": ["DOID:0080031", "GARD:0006444", "ICD9:733.29", "MEDGEN:120444", "MESH:D005357", "MedDRA:10016664", "NCIT:C34609", "NORD:1147", "Orphanet:249", "SCTID:10623005", "SCTID:254145001", "UMLS:C0259779", "icd11.foundation:1704766818"]}
{"category": ["biolink:Disease"], "description": "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.", "id": "MONDO:0000849", "name": "Fibrogenesis imperfecta ossium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000858", "name": "Neuronal intestinal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080072", "ICD9:751.5", "MEDGEN:576840", "SCTID:253783001", "UMLS:C0345244"]}
{"category": ["biolink:Disease"], "description": "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.", "id": "MONDO:0000859", "name": "Spina bifida occulta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["closed spinal dysraphism", "spina bifida occulta", "spina bifida occulta (disease)"], "xref": ["DOID:0080073", "HP:0003298", "ICD10CM:Q76.0", "ICD9:756.17", "MEDGEN:36380", "MESH:D016136", "NCIT:C101044", "Orphanet:645202", "SCTID:76916001", "UMLS:C0080174", "icd11.foundation:449489594"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.", "id": "MONDO:0000863", "name": "Myopathy, lactic acidosis, and sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MLASA", "MSA", "mitochondrial myopathy and sideroblastic anaemia", "mitochondrial myopathy and sideroblastic anemia", "myopathy, lactic acidosis and sideroblastic anaemia", "myopathy, lactic acidosis and sideroblastic anemia", "myopathy, lactic acidosis, and siderblastic anaemia", "myopathy, lactic acidosis, and siderblastic anemia"], "xref": ["DOID:0080099", "GARD:0003885", "MEDGEN:373888", "MESH:C536101", "OMIMPS:600462", "Orphanet:2598", "SCTID:724138007", "UMLS:C1838103", "icd11.foundation:678852156"]}
{"category": ["biolink:Disease"], "description": "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.", "id": "MONDO:0000870", "name": "Childhood acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood ALL", "childhood acute lymphoblastic leukemia", "childhood acute lymphocytic leukaemia", "childhood acute lymphocytic leukemia", "childhood acute lymphogenous leukaemia", "childhood acute lymphogenous leukemia", "childhood acute lymphoid leukaemia", "childhood acute lymphoid leukemia", "childhood precursor lymphoblastic leukaemia", "childhood precursor lymphoblastic leukemia", "paediatric ALL", "paediatric acute lymphoblastic leukaemia", "paediatric acute lymphocytic leukaemia", "paediatric acute lymphocytic leukaemia (ALL)", "paediatric acute lymphogenous leukaemia", "paediatric acute lymphoid leukaemia", "pediatric ALL", "pediatric acute lymphoblastic leukemia", "pediatric acute lymphocytic leukemia", "pediatric acute lymphocytic leukemia (ALL)", "pediatric acute lymphogenous leukemia", "pediatric acute lymphoid leukemia"], "xref": ["DOID:0080144", "GARD:0009240", "MEDGEN:44122", "NCIT:C3168", "UMLS:C0023452"]}
{"category": ["biolink:Disease"], "description": "An acute lymphoblastic leukemia of T-cell origin occurring in children.", "id": "MONDO:0000871", "name": "T-cell childhood acute lymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["T-cell childhood ALL", "T-cell childhood acute lymphoblastic leukaemia", "T-cell childhood acute lymphoblastic leukemia", "T-cell childhood acute lymphocytic leukemia", "T-cell paediatric ALL", "T-cell paediatric acute lymphoblastic leukaemia", "T-cell paediatric acute lymphocytic leukaemia", "T-cell pediatric ALL", "T-cell pediatric acute lymphoblastic leukemia", "T-cell pediatric acute lymphocytic leukemia", "childhood T acute lymphoblastic leukaemia", "childhood T acute lymphoblastic leukemia", "childhood T-ALL", "childhood T-cell acute lymphoblastic leukaemia", "childhood T-cell acute lymphoblastic leukemia", "childhood precursor T-lymphoblastic leukaemia", "childhood precursor T-lymphoblastic leukemia"], "xref": ["DOID:0080145", "EFO:1001947", "GARD:0007346", "MEDGEN:75996", "NCIT:C7953", "UMLS:C0279583"]}
{"category": ["biolink:Disease"], "description": "An acute B-lymphoblastic leukemia occurring in children.", "id": "MONDO:0000872", "name": "B-cell childhood acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["B cell childhood ALL", "B cell childhood acute lymphoblastic leukaemia", "B cell childhood acute lymphoblastic leukemia", "B cell childhood acute lymphocytic leukaemia", "B cell childhood acute lymphocytic leukemia", "B cell paediatric ALL", "B cell paediatric acute lymphoblastic leukaemia", "B cell paediatric acute lymphocytic leukaemia", "B cell pediatric ALL", "B cell pediatric acute lymphoblastic leukemia", "B cell pediatric acute lymphocytic leukemia", "B-cell childhood ALL", "B-cell childhood acute lymphocytic leukaemia", "B-cell childhood acute lymphocytic leukemia", "B-cell childhood acute lymphogenous leukaemia", "B-cell childhood acute lymphogenous leukemia", "B-cell childhood acute lymphoid leukaemia", "B-cell childhood acute lymphoid leukemia", "B-cell paediatric ALL", "B-cell paediatric acute lymphoblastic leukaemia", "B-cell paediatric acute lymphocytic leukaemia", "B-cell paediatric acute lymphogenous leukaemia", "B-cell paediatric acute lymphoid leukaemia", "B-cell pediatric ALL", "B-cell pediatric acute lymphoblastic leukemia", "B-cell pediatric acute lymphocytic leukemia", "B-cell pediatric acute lymphogenous leukemia", "B-cell pediatric acute lymphoid leukemia", "childhood B acute lymphoblastic leukaemia", "childhood B acute lymphoblastic leukemia", "childhood B-ALL", "childhood precursor B-lymphoblastic leukaemia", "childhood precursor B-lymphoblastic leukemia"], "xref": ["DOID:0080146", "EFO:1001946", "GARD:0022835", "MEDGEN:83526", "NANDO:2200002", "NCIT:C9140", "UMLS:C0279584"]}
{"category": ["biolink:Disease"], "description": "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.", "id": "MONDO:0000873", "name": "Lymphoblastic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphoblastic lymphoma", "lymphoma, lymphoblastic, malignant", "precursor cell lymphoblastic lymphoma", "precursor lymphoblastic lymphoma"], "xref": ["DOID:0080147", "GARD:0003329", "ICD9:202.80", "ICDO:9727/3", "MEDGEN:42541", "NCIT:C9360", "SCTID:109965004", "UMLS:C0079748"]}
{"category": ["biolink:Disease"], "description": "A T lymphoblastic lymphoma that occurs during childhood.", "id": "MONDO:0000874", "name": "T-cell childhood lymphoblastic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood T lymphoblastic lymphoma", "childhood precursor T-lymphoblastic lymphoma"], "xref": ["DOID:0080148", "GARD:0022836", "MEDGEN:232068", "NCIT:C7210", "UMLS:C1332998"]}
{"category": ["biolink:Disease"], "description": "A acute monocytic leukemia that occurs in an adult.", "id": "MONDO:0000875", "name": "Adult acute monocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["M5b adult acute differentiated monocytic leukaemia", "M5b adult acute differentiated monocytic leukemia", "M5b adult acute leukaemia", "M5b adult acute leukemia", "acute monocytic leukaemia of adults", "acute monocytic leukemia of adults", "adult acute differentiated monocytic leukaemia (M5b)", "adult acute differentiated monocytic leukemia (M5b)", "adult acute monocytic leukemia"], "xref": ["DOID:0080149", "EFO:1001933", "GARD:0022837", "MEDGEN:128856", "NANDO:2200008", "NANDO:2200009", "NCIT:C8263", "UMLS:C0280634"]}
{"category": ["biolink:Disease"], "description": "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.", "id": "MONDO:0000878", "name": "Cytomegalovirus retinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cytomegaloviral Retinitis", "Cytomegalovirus caused retinitis", "Cytomegalovirus retinitis", "Retinitis, Cytomegaloviral", "cytomegalovirus retinitis"], "xref": ["DOID:0080160", "EFO:1001302", "GARD:0009531", "MEDGEN:61532", "MESH:D017726", "NCIT:C50521", "SCTID:22455005", "UMLS:C0206178", "icd11.foundation:315493536"]}
{"category": ["biolink:Disease"], "description": "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)", "id": "MONDO:0000879", "name": "Cutaneous candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["zone of skin candidiasis"], "xref": ["DOID:0080161", "MEDGEN:2427", "MESH:D002179", "UMLS:C0006846"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mucous membranes lining the gastrointestinal tract.", "id": "MONDO:0000888", "name": "Gastrointestinal mucositis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gastrointestinal system mucosa inflammation", "gastrointestinal system mucosaitis", "inflammation of gastrointestinal system mucosa"], "xref": ["DOID:0080178", "ICD9:538", "ICD9:558.9", "MEDGEN:636691", "NCIT:C3853", "SCTID:95518006", "UMLS:C0521585"]}
{"category": ["biolink:Disease"], "description": "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.", "id": "MONDO:0000889", "name": "Haemophilus meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Haemophilus influenzae bacterial meningitis", "Haemophilus influenzae caused bacterial meningitis"], "xref": ["DOID:0080179", "EFO:1000955", "GARD:0022838", "ICD9:320.0", "MEDGEN:7535", "MESH:D008583", "MedDRA:10018953", "SCTID:192643004", "SCTID:5900006", "UMLS:C0025292"]}
{"category": ["biolink:Disease"], "description": "A congenital birth syndrome that arises from materal Zika infection.", "id": "MONDO:0000890", "name": "Zika virus congenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital Zika syndrome", "congenital Zika virus infection"], "xref": ["DOID:0080180", "GARD:0013441", "MEDGEN:1622152", "UMLS:C4546023", "icd11.foundation:755611612"]}
{"category": ["biolink:Disease"], "description": "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.", "id": "MONDO:0000891", "name": "Mixed fibrolamellar hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080182", "GARD:0022839"]}
{"category": ["biolink:Disease"], "description": "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.", "id": "MONDO:0000892", "name": "Colon medullary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon medullary carcinoma"], "xref": ["DOID:0080183", "MEDGEN:363630", "NCIT:C60641", "ONCOTREE:CMC", "UMLS:C1880119"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.", "id": "MONDO:0000893", "name": "Mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["indeterminate bronchioloalveolar carcinoma", "mixed mucinous and non-mucinous bronchioloalveolar carcinoma", "mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma", "mixed mucinous and non-mucinous bronchoalveolar lung carcinoma"], "xref": ["DOID:0080184", "GARD:0022840", "ICDO:8254/3", "MEDGEN:220410", "NCIT:C7270", "UMLS:C1266036"]}
{"category": ["biolink:Disease"], "description": "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.", "id": "MONDO:0000894", "name": "Mucinous bronchioloalveolar adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080185", "GARD:0022841", "MEDGEN:1627584", "UMLS:C2200125"]}
{"category": ["biolink:Disease"], "description": "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.", "id": "MONDO:0000895", "name": "Nonmucinous bronchioloalveolar adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080186", "GARD:0022842", "MEDGEN:266089", "NCIT:C7269", "UMLS:C1266034"]}
{"category": ["biolink:Disease"], "description": "A malignant form of hemangioma.", "id": "MONDO:0000898", "name": "Malignant hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangioma, malignant"], "xref": ["DOID:0080189", "MEDGEN:634243", "UMLS:C0474836"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.", "id": "MONDO:0000901", "name": "Relapsed/refractory diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080192", "GARD:0022843", "MEDGEN:208957", "UMLS:C0855112"]}
{"category": ["biolink:Disease"], "description": "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.", "id": "MONDO:0000902", "name": "Agenesis of the corpus callosum with peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Andermann syndrome", "Charlevoix disease", "agenesis of the corpus callosum with peripheral neuropathy", "corpus callosum agenesis-neuronopathy syndrome", "hereditary motor and sensory neuropathy with agenesis of the corpus callosum", "peripheral neuropathy associated with agenesis of the corpus callosum"], "xref": ["DOID:0060600", "DOID:0090003", "GARD:0001537", "MEDGEN:162893", "MESH:C536446", "OMIM:218000", "Orphanet:1496", "SCTID:702439002", "UMLS:C0795950", "icd11.foundation:1443432032"]}
{"category": ["biolink:Disease"], "description": "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.", "id": "MONDO:0000903", "name": "Myoclonus-dystonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-SGCE", "dystonia with myoclonus", "hereditary essential myoclonus", "myoclonic dystonia", "myoclonus-dystonia syndrome"], "xref": ["DOID:0090033", "GARD:0007139", "ICD9:333.99", "MESH:C536096", "NANDO:1200522", "Orphanet:36899", "SCTID:439732004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000904", "name": "Complex cortical dysplasia with other brain malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["complex cortical dysplasia with other brain malformations", "cortical dysplasia, complex, with other brain malformations"], "xref": ["DOID:0090131", "OMIMPS:614039"]}
{"category": ["biolink:Disease"], "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.", "id": "MONDO:0000908", "name": "Arrhythmogenic right ventricular dysplasia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC13", "ARVD13", "CTNNA3 arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular cardiomyopathy 13", "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3", "arrhythmogenic right ventricular dysplasia type 13", "arrhythmogenic right ventricular dysplasia, familial, 13", "arrhythmogenic right ventricular dysplasia, familial, type 13"], "xref": ["DOID:0110084", "GARD:0022844", "MEDGEN:816468", "OMIM:615616", "UMLS:C3810138"]}
{"category": ["biolink:Disease"], "description": "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.", "id": "MONDO:0000909", "name": "Bartter disease type 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BARTS4B", "Bartter disease type 4B", "Bartter syndrome, type 4B"], "xref": ["DOID:0110146", "GARD:0015612", "MEDGEN:934772", "OMIM:613090", "UMLS:C4310805"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.", "id": "MONDO:0000910", "name": "Retinitis pigmentosa 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP6", "retinitis pigmentosa 6", "retinitis pigmentosa type 6"], "xref": ["DOID:0110413", "GARD:0010377", "MEDGEN:333305", "MESH:C564065", "OMIM:312612", "UMLS:C1839368"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.", "id": "MONDO:0000912", "name": "Autosomal recessive nonsyndromic hearing loss 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110507", "GARD:0022585", "MEDGEN:331485", "MESH:C563444", "OMIM:600792", "UMLS:C1833319"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.", "id": "MONDO:0000913", "name": "Hereditary spherocytosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HS2", "SPH2", "SPTB hereditary spherocytosis", "hereditary spherocytosis caused by mutation in SPTB", "hereditary spherocytosis type 2", "spherocytosis, type 2"], "xref": ["DOID:0110917", "GARD:0016149", "MEDGEN:436112", "OMIM:616649", "UMLS:C2674219"]}
{"category": ["biolink:Disease"], "description": "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.", "id": "MONDO:0000914", "name": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CADASIL", "CADASIL syndrome", "CADASIL type 1", "CADASIL1", "CASIL", "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1", "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1", "dementia, hereditary multi-infarct type", "hereditary multi-infarct dementia"], "xref": ["DOID:0111035", "GARD:0001049", "MEDGEN:1634330", "MESH:D046589", "MedDRA:10065551", "NCIT:C84606", "NORD:883", "OMIM:125310", "Orphanet:136", "SCTID:390936003", "UMLS:C4551768", "icd11.foundation:1621899838"]}
{"category": ["biolink:Disease"], "description": "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.", "id": "MONDO:0000916", "name": "Intestinal infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:100", "ICD10CM:A00-A09", "ICD9:001-009", "ICD9:008.8", "MEDGEN:511728", "SCTID:266071000", "UMLS:C0178238"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.", "id": "MONDO:0000918", "name": "Endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrium inflammation", "inflammation of endometrium", "uterine infection"], "xref": ["DOID:1002", "EFO:1001312", "MEDGEN:41789", "MESH:D004716", "NCIT:C26764", "SCTID:78623009", "UMLS:C0014179"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the ampulla of Vater.", "id": "MONDO:0000919", "name": "Ampulla of vater cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of hepatopancreatic ampulla", "hepatopancreatic ampulla cancer", "malignant ampulla of Vater neoplasm", "malignant ampulla of Vater tumor", "malignant ampulla of Vater tumour", "malignant hepatopancreatic ampulla neoplasm", "malignant neoplasm of ampulla of Vater", "malignant neoplasm of hepatopancreatic ampulla", "malignant neoplasm of the ampulla of Vater", "malignant tumor of ampulla of Vater", "malignant tumor of ampulla of vater", "malignant tumor of the ampulla of Vater", "malignant tumour of the ampulla of Vater"], "xref": ["DOID:10020", "GARD:0022845", "ICD10CM:C24.1", "ICD9:156.2", "MEDGEN:57785", "NCIT:C3536", "SCTID:363417006", "UMLS:C0153454"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0000920", "name": "Duodenum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of duodenum", "duodenum cancer", "malignant duodenal neoplasm", "malignant duodenal tumor", "malignant duodenal tumour", "malignant duodenum neoplasm", "malignant neoplasm of duodenum", "malignant neoplasm of the duodenum", "malignant tumor of duodenum", "malignant tumor of the duodenum", "malignant tumour of duodenum", "malignant tumour of the duodenum"], "xref": ["DOID:10021", "GARD:0022846", "ICD10CM:C17.0", "ICD9:152.0", "MEDGEN:56301", "MESH:D004379", "NCIT:C9328", "SCTID:363403002", "UMLS:C0153426", "icd11.foundation:1527322574"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the ampulla of Vater.", "id": "MONDO:0000921", "name": "Ampulla of vater neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ampulla of Vater tumor", "ampulla of Vater tumour", "hepatopancreatic ampulla neoplasm", "hepatopancreatic ampulla neoplasm (disease)", "hepatopancreatic ampulla tumor", "hepatopancreatic ampulla tumour", "neoplasm of ampulla of Vater", "neoplasm of hepatopancreatic ampulla", "neoplasm of the ampulla of Vater", "tumor of ampulla of Vater", "tumor of hepatopancreatic ampulla", "tumor of the ampulla of Vater", "tumour of ampulla of Vater", "tumour of hepatopancreatic ampulla", "tumour of the ampulla of Vater"], "xref": ["DOID:10022", "MEDGEN:138029", "NCIT:C4443", "ONCOTREE:AMPULLA_OF_VATER", "SCTID:126858004", "UMLS:C0345916"]}
{"category": ["biolink:Disease"], "description": "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.", "id": "MONDO:0000922", "name": "Pelvic inflammatory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PID", "pelvic inflammatory disease"], "xref": ["DOID:1003", "EFO:1001388", "ICD10CM:N70-N77", "ICD9:614-616", "ICD9:614.8", "ICD9:614.9", "MEDGEN:66845", "MESH:D000292", "NCIT:C3889", "SCTID:198130006", "UMLS:C0242172"]}
{"category": ["biolink:Disease"], "description": "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.", "id": "MONDO:0000923", "name": "Interstitial emphysema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PIE", "interstitial emphysema of lung", "pie", "pulmonary interstitial emphysema"], "xref": ["DOID:10030", "ICD10CM:J98.2", "ICD9:518.1", "MEDGEN:234586", "NCIT:C34571", "SCTID:77690003", "UMLS:C1370824", "icd11.foundation:2008095771"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000924", "name": "Compensatory emphysema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10031", "ICD10CM:J98.3", "ICD9:518.2", "MEDGEN:510136", "SCTID:33325001", "UMLS:C0155918", "icd11.foundation:318427535"]}
{"category": ["biolink:Disease"], "description": "A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.", "id": "MONDO:0000925", "name": "Hyperlucent lung", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10032", "MEDGEN:101178", "MESH:D019568", "UMLS:C0524799"]}
{"category": ["biolink:Disease"], "description": "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.", "id": "MONDO:0000926", "name": "Eye accommodation disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of accommodation"], "xref": ["DOID:10034", "ICD9:367.5", "MEDGEN:508925", "SCTID:54552008", "UMLS:C0152198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000927", "name": "Asymptomatic neurosyphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10035", "GARD:0022847", "ICD10CM:A52.2", "ICD9:094.3", "MEDGEN:102259", "SCTID:37754005", "UMLS:C0153167", "icd11.foundation:453651926"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from the upper or lower eyelid.", "id": "MONDO:0000928", "name": "Eyelid melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["eyelid melanoma", "eyelid melanoma (disease)", "malignant eyelid melanoma", "malignant melanoma of eyelid", "malignant melanoma of the eyelid", "melanoma (disease) of eyelid", "melanoma of eyelid", "melanoma of the eyelid"], "xref": ["DOID:10040", "GARD:0022848", "ICD9:172.1", "MEDGEN:90937", "NCIT:C4358", "SCTID:231834005", "UMLS:C0339116"]}
{"category": ["biolink:Disease"], "description": "A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.", "id": "MONDO:0000929", "name": "Balloon cell malignant melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["balloon cell cutaneous (skin) melanoma", "balloon cell malignant melanoma of skin", "balloon cell malignant melanoma of the skin", "balloon cell malignant skin melanoma", "balloon cell melanoma", "balloon cell skin melanoma"], "xref": ["DOID:10044", "ICDO:8722/3", "MEDGEN:90780", "NCIT:C4227", "SCTID:403922007", "UMLS:C0334426"]}
{"category": ["biolink:Disease"], "description": "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.", "id": "MONDO:0000930", "name": "Nodular malignant melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nodular cutaneous (skin) melanoma", "nodular malignant melanoma of skin", "nodular malignant melanoma of the skin", "nodular malignant skin melanoma", "nodular melanoma (morphologic abnormality)"], "xref": ["DOID:10047", "EFO:0008515", "GARD:0009961", "ICDO:8721/3", "MEDGEN:83144", "NCIT:C4225", "SCTID:254731001", "UMLS:C0334424"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.", "id": "MONDO:0000931", "name": "Endometrial disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of endometrium", "disease or disorder of endometrium", "disorder of endometrium", "endometrial disorder", "endometrium disease", "endometrium disease or disorder"], "xref": ["DOID:1005", "MEDGEN:57473", "NCIT:C3504", "SCTID:418632009", "UMLS:C0151622"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the subglottic area of the larynx.", "id": "MONDO:0000933", "name": "Subglottis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of subglottis", "neoplasm of the subglottis", "subglottic neoplasm", "subglottic tumor", "subglottic tumour", "subglottis neoplasm", "subglottis neoplasm (disease)", "subglottis tumor", "subglottis tumour", "tumor of subglottis", "tumor of the subglottis", "tumour of subglottis", "tumour of the subglottis"], "xref": ["DOID:10069", "MEDGEN:87513", "NCIT:C4426", "SCTID:126696001", "UMLS:C0345746"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0000934", "name": "Laryngeal leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laryngeal leiomyoma", "larynx leiomyoma", "leiomyoma of larynx", "leiomyoma of the larynx"], "xref": ["DOID:10070", "MEDGEN:232691", "NCIT:C6027", "UMLS:C1334370"]}
{"category": ["biolink:Disease"], "description": "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.", "id": "MONDO:0000935", "name": "Larynx squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laryngeal papilloma", "larynx papilloma", "larynx squamous papilloma", "papilloma of larynx", "papilloma of the larynx", "squamous papilloma of larynx", "squamous papilloma of the larynx"], "xref": ["DOID:10071", "MEDGEN:116099", "NCIT:C7742", "UMLS:C0240164"]}
{"category": ["biolink:Disease"], "description": "An infectious meningitis caused by infection with Treponema.", "id": "MONDO:0000936", "name": "Syphilitic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Treponema caused infectious meningitis", "Treponema infectious meningitis"], "xref": ["DOID:10073", "GARD:0008731", "ICD9:094.2", "MEDGEN:57546", "MESH:C536775", "SCTID:301086002", "UMLS:C0153166"]}
{"category": ["biolink:Disease"], "description": "An encephalitis caused by infection with Treponema.", "id": "MONDO:0000937", "name": "Syphilitic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Treponema caused encephalitis", "Treponema encephalitis"], "xref": ["DOID:10081", "GARD:0022849", "ICD9:094.81", "MEDGEN:509177", "SCTID:26135000", "UMLS:C0153168"]}
{"category": ["biolink:Disease"], "description": "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).", "id": "MONDO:0000938", "name": "Gastric leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gastric leiomyoma", "leiomyoma of stomach", "leiomyoma of the stomach", "stomach leiomyoma"], "xref": ["DOID:10087", "MEDGEN:116062", "NCIT:C3876", "SCTID:276812001", "UMLS:C0238440", "icd11.foundation:910186285"]}
{"category": ["biolink:Disease"], "description": "An abscess that is located in the intracranial space.", "id": "MONDO:0000939", "name": "Intracranial abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10095", "ICD9:324.0", "MEDGEN:9529", "NCIT:C34734", "SCTID:27614006", "UMLS:C0021874", "icd11.foundation:1128677700"]}
{"category": ["biolink:Disease"], "description": "Infection with protozoa of the genus trypanosoma.", "id": "MONDO:0000940", "name": "Trypanosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trypanosoma caused disease or disorder", "Trypanosoma disease or disorder", "Trypanosoma infectious disease"], "xref": ["DOID:10113", "ICD10CM:B56", "ICD9:086", "ICD9:086.9", "MEDGEN:52872", "MESH:D014352", "NANDO:2200774", "SCTID:78940002", "UMLS:C0041227"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that involves the eyelid.", "id": "MONDO:0000941", "name": "Eyelid degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eyelid neurodegenerative disease", "neurodegenerative disease of eyelid"], "xref": ["DOID:10120", "ICD9:374.50", "MEDGEN:509851", "SCTID:1112003", "UMLS:C0155209"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.", "id": "MONDO:0000942", "name": "Corneal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cornea disease", "cornea disease or disorder", "corneal disease", "corneal disorder", "disease of cornea", "disease or disorder of cornea", "disorder of cornea"], "xref": ["DOID:10124", "EFO:0009464", "ICD9:371.30", "ICD9:371.89", "ICD9:371.9", "MEDGEN:3617", "MESH:D003316", "NCIT:C26731", "SCTID:15250008", "UMLS:C0010034", "icd11.foundation:980864631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000943", "name": "Acute hydrops keratoconus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["keratoconus, acute hydrops"], "xref": ["DOID:10125", "GARD:0022851", "ICD9:371.62", "MEDGEN:573067", "SCTID:111523009", "UMLS:C0339286"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000944", "name": "Cerebral artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["DOID:10127", "ICD9:434", "ICD9:434.9", "ICD9:434.90", "ICD9:434.91", "MEDGEN:507994", "SCTID:20059004", "UMLS:C0028790"]}
{"category": ["biolink:Disease"], "description": "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.", "id": "MONDO:0000945", "name": "Venous insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["venous insufficiency", "venous insufficiency (disease)"], "xref": ["DOID:10128", "HP:0005293", "ICD9:459.81", "MEDGEN:21841", "MESH:D014689", "SCTID:20696009", "UMLS:C0042485"]}
{"category": ["biolink:Disease"], "description": "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.", "id": "MONDO:0000946", "name": "Psychologic vaginismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["psychogenic vaginismus"], "xref": ["DOID:10131", "ICD10CM:F52.5", "ICD9:306.51", "MEDGEN:52970", "SCTID:71787009", "UMLS:C0042266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000947", "name": "Psychosexual disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10132", "ICD9:302.79", "ICD9:302.89", "ICD9:302.9", "MEDGEN:18747", "SCTID:56627002", "UMLS:C0033953"]}
{"category": ["biolink:Disease"], "description": "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.", "id": "MONDO:0000948", "name": "Xerophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["conjunctival xerosis"], "xref": ["DOID:10138", "GARD:0027564", "MEDGEN:9620", "MESH:D014985", "NCIT:C34503", "SCTID:363677007", "UMLS:C0022575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000949", "name": "Conjunctival degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10139", "ICD9:372.50", "MEDGEN:509820", "SCTID:40787005", "UMLS:C0155160", "icd11.foundation:763685773"]}
{"category": ["biolink:Disease"], "description": "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.", "id": "MONDO:0000950", "name": "Asthenopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["accommodative strain"], "xref": ["DOID:10141", "MEDGEN:2108", "MESH:D001248", "UMLS:C0004095"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.", "id": "MONDO:0000951", "name": "Thymus lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus lymphoma", "lymphoma of Thymus", "lymphoma of the Thymus", "lymphoma of thymus", "primary thymic lymphoma", "thymic lymphoma", "thymus lymphoma"], "xref": ["DOID:10146", "EFO:1000054", "GARD:0022852", "MEDGEN:277818", "NCIT:C6451", "UMLS:C1336745"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the hindlimb long bone.", "id": "MONDO:0000952", "name": "Cancer of long bone of lower limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of hindlimb long bone", "hindlimb long bone cancer", "malignant hindlimb long bone neoplasm", "malignant neoplasm of hindlimb long bone"], "xref": ["DOID:10149", "GARD:0022853", "ICD10CM:C40.2", "ICD9:170.7", "MEDGEN:757711", "SCTID:449627008", "UMLS:C3265932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000953", "name": "Cancer of short bone of lower limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10151", "GARD:0022854", "ICD10CM:C40.3", "ICD9:170.8", "MEDGEN:509319", "SCTID:712525007", "UMLS:C0153518"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a Meckel's diverticulum.", "id": "MONDO:0000954", "name": "Meckel diverticulum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Meckel's diverticulum cancer", "cancer of Meckel's diverticulum", "malignant Meckel's diverticulum neoplasm", "malignant neoplasm of Meckel's diverticulum"], "xref": ["DOID:10152", "GARD:0022855", "ICD9:152.3", "MEDGEN:509288", "SCTID:187752007", "UMLS:C0153429"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ileum", "id": "MONDO:0000955", "name": "Ileum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of ileum", "ileum cancer", "malignant ileum neoplasm", "malignant neoplasm of ileum"], "xref": ["DOID:10153", "GARD:0022856", "ICD10CM:C17.2", "ICD9:152.2", "MEDGEN:83390", "NCIT:C193425", "UMLS:C0345836", "icd11.foundation:1257212583"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the small intestine.", "id": "MONDO:0000956", "name": "Small intestine cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancer of small intestine", "malignant neoplasm of small bowel", "malignant neoplasm of small intestine", "malignant neoplasm of the small bowel", "malignant neoplasm of the small intestine", "malignant small bowel neoplasm", "malignant small bowel tumor", "malignant small bowel tumour", "malignant small intestinal neoplasm", "malignant small intestine neoplasm", "malignant small intestine tumor", "malignant small intestine tumour", "malignant tumor of small bowel", "malignant tumor of small intestine", "malignant tumor of the small bowel", "malignant tumor of the small intestine", "malignant tumour of small bowel", "malignant tumour of small intestine", "malignant tumour of the small bowel", "malignant tumour of the small intestine", "small intestine cancer"], "xref": ["DOID:10154", "GARD:0009385", "ICD10CM:C17", "ICD9:152.9", "MEDGEN:56300", "NCIT:C7523", "UMLS:C0153425", "icd11.foundation:906379260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000957", "name": "Lacrimal passage granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granuloma of lacrimal passages"], "xref": ["DOID:10174", "ICD10CM:H04.81", "ICD9:375.81", "MEDGEN:509875", "SCTID:417563003", "UMLS:C0155253"]}
{"category": ["biolink:Disease"], "description": "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.", "id": "MONDO:0000958", "name": "Neuroretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10176", "GARD:0022857", "ICD9:363.05", "MEDGEN:57826", "UMLS:C0154874", "icd11.foundation:418437487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0000959", "name": "Malignant hypertensive renal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10177", "ICD9:403.00", "MEDGEN:510034", "SCTID:65443008", "UMLS:C0155593"]}
{"category": ["biolink:Disease"], "description": "Diabetic angiopathy is a form of angiopathy associated with diabetic complications.", "id": "MONDO:0000960", "name": "Diabetic peripheral angiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diabetic angiopathy", "diabetic vascular disorder"], "xref": ["DOID:10182", "DOID:11713", "EFO:1000896", "ICD9:250.7", "ICD9:443.81", "MEDGEN:507633", "MESH:D003925", "NCIT:C35610", "SCTID:127014009", "UMLS:C0011871"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.", "id": "MONDO:0000961", "name": "Endobronchial lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endobronchial lipoma"], "xref": ["DOID:10183", "MEDGEN:208874", "NCIT:C5063", "UMLS:C0852937"]}
{"category": ["biolink:Disease"], "description": "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.", "id": "MONDO:0000962", "name": "Spindle cell lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spindle cell lipoma", "spindle cell lipoma (morphologic abnormality)"], "xref": ["DOID:10184", "ICDO:8857/0", "MEDGEN:83153", "NCIT:C4254", "SCTID:404058008", "UMLS:C0334474"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.", "id": "MONDO:0000963", "name": "Esophageal lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["esophageal lipoma", "esophagus lipoma", "lipoma of esophagus", "lipoma of oesophagus", "lipoma of the esophagus", "lipoma of the oesophagus", "oesophagus lipoma"], "xref": ["DOID:10187", "MEDGEN:232162", "NCIT:C5701", "UMLS:C1333455"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant adipose tissue neoplasm of the skin.", "id": "MONDO:0000964", "name": "Skin lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutaneous lipoma", "cutaneous lipomatous tumour", "lipoma of skin", "lipoma of the skin", "lipoma of zone of skin", "skin lipoma", "zone of skin lipoma"], "xref": ["DOID:10188", "ICD9:214.1", "MEDGEN:91128", "NCIT:C4616", "SCTID:255187008", "UMLS:C0347394"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the liver.", "id": "MONDO:0000965", "name": "Liver lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hepatic lipoma", "lipoma of liver", "lipoma of the liver", "liver lipoma"], "xref": ["DOID:10190", "MEDGEN:232277", "NCIT:C5750", "UMLS:C1333970"]}
{"category": ["biolink:Disease"], "description": "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.", "id": "MONDO:0000966", "name": "Pleomorphic lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pleomorphic lipoma", "pleomorphic lipoma (morphologic abnormality)"], "xref": ["DOID:10192", "ICDO:8854/0", "MEDGEN:60027", "NCIT:C3703", "SCTID:404059000", "UMLS:C0205823"]}
{"category": ["biolink:Disease"], "description": "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.", "id": "MONDO:0000967", "name": "Conventional lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["classic type lipoma", "conventional lipoma"], "xref": ["DOID:10193", "MEDGEN:272486", "NCIT:C27530", "UMLS:C1333059"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.", "id": "MONDO:0000968", "name": "Kidney lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["kidney lipoma", "lipoma of kidney", "lipoma of the kidney", "renal lipoma"], "xref": ["DOID:10194", "MEDGEN:277588", "NCIT:C5101", "UMLS:C1335744"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.", "id": "MONDO:0000969", "name": "Pleural lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of pleura", "lipoma of the pleura", "pleura lipoma", "pleural lipoma"], "xref": ["DOID:10195", "MEDGEN:233862", "NCIT:C6644", "SCTID:2460001000004103", "UMLS:C1335434"]}
{"category": ["biolink:Disease"], "description": "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.", "id": "MONDO:0000970", "name": "Breast lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast lipoma", "lipoma of breast", "lipoma of the breast"], "xref": ["DOID:10199", "ICD9:214.1", "MEDGEN:138103", "NCIT:C4647", "SCTID:276891009", "UMLS:C0349565"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the chest wall.", "id": "MONDO:0000971", "name": "Chest wall lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chest wall lipoma", "lipoma of chest wall", "lipoma of the chest wall"], "xref": ["DOID:10200", "ICD9:214.8", "MEDGEN:234118", "NCIT:C6719", "SCTID:448270009", "UMLS:C1332932"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm involving the gallbladder wall.", "id": "MONDO:0000972", "name": "Gallbladder lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gall bladder lipoma", "gallbladder lipoma", "lipoma of gall bladder", "lipoma of gallbladder", "lipoma of the gallbladder"], "xref": ["DOID:10201", "MEDGEN:272660", "NCIT:C5835", "UMLS:C1333747"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the external ear.", "id": "MONDO:0000973", "name": "External ear lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["external Ear lipoma", "external ear lipoma", "lipoma of external Ear", "lipoma of external ear", "lipoma of the external Ear", "lipoma of the external auditory meatus", "lipoma of the external ear"], "xref": ["DOID:10203", "ICD9:215.0", "MEDGEN:91130", "NCIT:C4618", "SCTID:188988008", "UMLS:C0347423"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the axilla.", "id": "MONDO:0000974", "name": "Axillary lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["axilla lipoma", "axillary lipoma", "lipoma of axilla"], "xref": ["DOID:10205", "ICD9:214.8", "MEDGEN:87575", "NCIT:C35419", "SCTID:188993006", "UMLS:C0347429"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.", "id": "MONDO:0000975", "name": "Lipoma of spermatic cord", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of spermatic cord", "lipoma of the spermatic cord", "spermatic cord lipoma"], "xref": ["DOID:10206", "ICD9:214.4", "MEDGEN:102299", "NCIT:C3606", "SCTID:93162007", "UMLS:C0153972"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.", "id": "MONDO:0000976", "name": "Paratesticular lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paratesticular lipoma"], "xref": ["DOID:10207", "MEDGEN:233310", "NCIT:C6384", "UMLS:C1335348"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.", "id": "MONDO:0000977", "name": "Chondroid lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10208", "ICDO:8862/0", "MEDGEN:266104", "NCIT:C6503", "SCTID:404065000", "UMLS:C1266131"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the extrahepatic bile duct.", "id": "MONDO:0000978", "name": "Extrahepatic bile duct lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extrahepatic bile duct lipoma", "lipoma of extrahepatic bile duct", "lipoma of the extrahepatic bile duct"], "xref": ["DOID:10209", "MEDGEN:232482", "NCIT:C5854", "UMLS:C1333509"]}
{"category": ["biolink:Disease"], "description": "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.", "id": "MONDO:0000979", "name": "Pinta disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Pinta", "pinta"], "xref": ["DOID:1022", "GARD:0007397", "ICD10CM:A67", "ICD9:103", "ICD9:103.0", "ICD9:103.1", "ICD9:103.2", "ICD9:103.3", "ICD9:103.9", "MEDGEN:45926", "MESH:D010874", "NCIT:C85011", "NORD:1580", "SCTID:22064009", "UMLS:C0031946", "icd11.foundation:1465035083"]}
{"category": ["biolink:Disease"], "description": "A atherosclerosis that involves the aorta.", "id": "MONDO:0000980", "name": "Aortic atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aorta atherosclerosis", "aortic atherosclerosis", "aortic atherosclerosis (disease)", "atherosclerosis of aorta"], "xref": ["DOID:10230", "HP:0012397", "ICD10CM:I70.0", "ICD9:440.0", "MEDGEN:510061", "SCTID:81817003", "UMLS:C0155733", "icd11.foundation:1600740300"]}
{"category": ["biolink:Disease"], "description": "An pericarditis (disease) caused by infection with Histoplasma.", "id": "MONDO:0000981", "name": "Histoplasma pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Histoplasma caused pericarditis (disease)", "Histoplasma pericarditis (disease)"], "xref": ["DOID:10234", "GARD:0022858", "ICD9:115.93", "MEDGEN:509241", "SCTID:187059008", "UMLS:C0153279"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.", "id": "MONDO:0000983", "name": "Exhibitionism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10236", "ICD10CM:F65.2", "ICD9:302.4", "MEDGEN:41913", "MESH:D005084", "NCIT:C94352", "SCTID:58349009", "UMLS:C0015269"]}
{"category": ["biolink:Disease"], "description": "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.", "id": "MONDO:0000984", "name": "Thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["sickle-cell thalassemia with crisis", "sickle-cell thalassemia without crisis"], "xref": ["DOID:10241", "EFO:1001996", "GARD:0007756", "ICD10CM:D56", "ICD9:282.4", "ICD9:282.40", "ICD9:282.49", "MEDGEN:21121", "MESH:D013789", "NANDO:2200626", "NCIT:C35069", "SCTID:40108008", "UMLS:C0039730"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.", "id": "MONDO:0000986", "name": "Pleurisy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of pleura", "pleura inflammation", "pleuritis"], "xref": ["DOID:10247", "EFO:1001825", "ICD10CM:R09.1", "ICD9:511.8", "MEDGEN:10807", "MESH:D010998", "NCIT:C26860", "SCTID:196075003", "UMLS:C0032231", "icd11.foundation:317852053"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a change in the gallbladder wall due to excess cholesterol.", "id": "MONDO:0000987", "name": "Cholesterolosis of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["strawberry gallbladder"], "xref": ["DOID:10254", "ICD10CM:K82.4", "ICD9:575.6", "MEDGEN:509042", "SCTID:61565001", "UMLS:C0152456", "icd11.foundation:2109132211"]}
{"category": ["biolink:Disease"], "description": "Discharge or drainage of fluid from the ear.", "id": "MONDO:0000988", "name": "Discharging ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10261", "ICD9:388.6", "ICD9:388.60", "MEDGEN:57608", "UMLS:C0155540"]}
{"category": ["biolink:Disease"], "description": "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.", "id": "MONDO:0000989", "name": "Mumps infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Mumps virus caused disease or disorder", "Mumps virus disease or disorder", "Mumps virus infectious disease", "epidemic parotitis", "mumps"], "xref": ["DOID:10264", "EFO:0007383", "ICD10CM:B26", "ICD9:072", "MEDGEN:44521", "MESH:D009107", "MESH:D019351", "NCIT:C29888", "SCTID:36989005", "UMLS:C0026780", "icd11.foundation:1208294714"]}
{"category": ["biolink:Disease"], "description": "Acute form of subendocardial myocardial infarction.", "id": "MONDO:0000990", "name": "Acute subendocardial myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute subendocardial infarction", "subendocardial myocardial infarction, acute"], "xref": ["DOID:10266", "ICD9:410.7", "ICD9:410.70", "ICD9:410.71", "ICD9:410.72", "MEDGEN:538778", "SCTID:70422006", "UMLS:C0264710"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of the heart's electrical conduction system.", "id": "MONDO:0000992", "name": "Heart conduction disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiac conduction disease", "cardiac conduction disorder", "conduction disease of heart", "disease of cardiac conduction", "disorder of cardiac conduction"], "xref": ["DOID:10273", "ICD9:426.6", "SCTID:44808001"]}
{"category": ["biolink:Disease"], "description": "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.", "id": "MONDO:0000993", "name": "Prostate squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["prostate gland squamous cell carcinoma", "prostate squamous cell carcinoma", "squamous cell carcinoma of prostate", "squamous cell carcinoma of the prostate"], "xref": ["DOID:10287", "MEDGEN:226996", "NCIT:C5536", "ONCOTREE:PRSC", "SCTID:399590005", "UMLS:C1302530"]}
{"category": ["biolink:Disease"], "description": "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.", "id": "MONDO:0000994", "name": "Malignant prostate phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant phyllodes neoplasm of prostate", "malignant phyllodes neoplasm of the prostate", "malignant phyllodes tumor of prostate", "malignant phyllodes tumor of the prostate", "malignant phyllodes tumour of prostate", "malignant phyllodes tumour of the prostate", "malignant prostate phyllodes neoplasm", "malignant prostate phyllodes tumor"], "xref": ["DOID:10289", "GARD:0022859", "MEDGEN:235301", "NCIT:C5531", "UMLS:C1334615"]}
{"category": ["biolink:Disease"], "description": "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.", "id": "MONDO:0000995", "name": "Familial periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["familial periodic paralysis", "hereditary periodic paralysis (disease)"], "xref": ["DOID:1029", "GARD:0021613", "MEDGEN:18291", "MESH:D010245", "NANDO:1200502", "NCIT:C84709", "Orphanet:371433", "SCTID:267607008", "UMLS:C0030443"]}
{"category": ["biolink:Disease"], "description": "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.", "id": "MONDO:0000996", "name": "Prostate lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of prostate", "lymphoma of prostate gland", "lymphoma of the prostate", "primary prostate lymphoma", "prostate gland lymphoma", "prostate lymphoma"], "xref": ["DOID:10290", "GARD:0022860", "MEDGEN:235500", "NCIT:C5533", "UMLS:C1335512"]}
{"category": ["biolink:Disease"], "description": "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.", "id": "MONDO:0000997", "name": "Monocular esotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10293", "ICD10CM:H50.01", "ICD9:378.01", "MEDGEN:57514", "SCTID:5455000", "UMLS:C0152204", "icd11.foundation:813817121"]}
{"category": ["biolink:Disease"], "description": "Pneumoconiosis caused by the inhalation of mixed mineral dust particles.", "id": "MONDO:0001000", "name": "Mixed mineral dust pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mineral dust pneumoconiosis", "mixed mineral dust pneumoconiosis", "pneumoconiosis from mineral dust"], "xref": ["DOID:10319", "GARD:0022861", "ICD9:503", "MEDGEN:137937", "NCIT:C27559", "SCTID:233759002", "UMLS:C0340184"]}
{"category": ["biolink:Disease"], "description": "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.", "id": "MONDO:0001001", "name": "Baritosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10321", "GARD:0008371", "ICD9:503", "MEDGEN:87399", "MESH:C537080", "NCIT:C34410", "SCTID:50076003", "UMLS:C0340177"]}
{"category": ["biolink:Disease"], "description": "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.", "id": "MONDO:0001003", "name": "Pneumoconiosis due to talc", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["talc pneumoconiosis"], "xref": ["DOID:10329", "GARD:0022862", "ICD9:502", "MEDGEN:65961", "NCIT:C27026", "SCTID:73144008", "UMLS:C0238377", "icd11.foundation:29181140"]}
{"category": ["biolink:Disease"], "description": "Pneumoconiosis caused by exposure to slate dust.", "id": "MONDO:0001004", "name": "Slate pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10330", "GARD:0022863", "ICD9:502", "MEDGEN:83300", "NCIT:C35397", "SCTID:1259003", "UMLS:C0340186"]}
{"category": ["biolink:Disease"], "description": "Pneumoconiosis caused by inhalation of kaolin dust.", "id": "MONDO:0001005", "name": "Kaolin pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:10331", "GARD:0008355", "ICD9:502", "MEDGEN:78108", "NCIT:C35315", "SCTID:36696005", "UMLS:C0264435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001006", "name": "Glaucomatous atrophy of optic disk", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glaucomatous atrophy [cupping] of optic disk"], "xref": ["DOID:10337", "ICD9:377.14", "MEDGEN:543288", "SCTID:1207009", "UMLS:C0271342"]}
{"category": ["biolink:Disease"], "description": "Chronic form of meningitis (disease).", "id": "MONDO:0001007", "name": "Chronic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic meningitis (disease)", "meningitis (disease), chronic"], "xref": ["DOID:10341", "ICD10CM:G03.1", "ICD9:322.2", "MEDGEN:509621", "SCTID:21664006", "UMLS:C0154653", "icd11.foundation:1597945150"]}
{"category": ["biolink:Disease"], "description": "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)", "id": "MONDO:0001008", "name": "Blepharophimosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blepharophimosis", "blepharophimosis (disease)"], "xref": ["DOID:10348", "HP:0000581", "ICD10CM:H02.52", "ICD9:374.46", "MEDGEN:2670", "MESH:D016569", "UMLS:C0005744"]}
{"category": ["biolink:Disease"], "description": "A single, fluid-filled cyst in the breast parenchyma.", "id": "MONDO:0001009", "name": "Solitary cyst of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["solitary cyst of breast"], "xref": ["DOID:10349", "ICD10CM:N60.0", "ICD9:610.0", "MEDGEN:20866", "SCTID:266578003", "UMLS:C0037619"]}
{"category": ["biolink:Disease"], "description": "A cystic lesion located in breast tissue.", "id": "MONDO:0001011", "name": "Breast cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10350", "MEDGEN:14220", "MESH:D047688", "SCTID:399294002", "UMLS:C0006144"]}
{"category": ["biolink:Disease"], "description": "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.", "id": "MONDO:0001014", "name": "Chronic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chronic leukaemia (disease)", "chronic leukemia", "chronic leukemia (disease)", "leukaemia (disease), chronic", "leukemia (disease), chronic"], "xref": ["DOID:1036", "ICD9:208.10", "MEDGEN:220905", "NCIT:C3483", "SCTID:92812005", "UMLS:C1279296"]}
{"category": ["biolink:Disease"], "description": "Meningitis in which eosinophils predominate in the cerebrospinal fluid.", "id": "MONDO:0001015", "name": "Eosinophilic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10361", "ICD9:322.1", "MEDGEN:509620", "NCIT:C128374", "SCTID:25671008", "UMLS:C0154652"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.", "id": "MONDO:0001016", "name": "Epididymis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of epididymis", "epididymis cancer", "malignant epididymal neoplasm", "malignant epididymal tumor", "malignant epididymal tumour", "malignant epididymis neoplasm", "malignant neoplasm of epididymis", "malignant neoplasm of the epididymis", "malignant tumor of epididymis", "malignant tumor of the epididymis", "malignant tumour of epididymis", "malignant tumour of the epididymis"], "xref": ["DOID:10366", "ICD10CM:C63.0", "ICD9:187.5", "MEDGEN:57792", "NCIT:C3558", "SCTID:363452003", "UMLS:C0153602"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.", "id": "MONDO:0001017", "name": "Epididymal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinoma of the epididymis", "epididymal adenocarcinoma", "epididymis adenocarcinoma"], "xref": ["DOID:10368", "MEDGEN:307180", "NCIT:C39957", "UMLS:C1510784"]}
{"category": ["biolink:Disease"], "description": "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.", "id": "MONDO:0001019", "name": "Suppression amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["strabismic amblyopia"], "xref": ["DOID:10375", "ICD10CM:H53.03", "ICD9:368.01", "MEDGEN:152911", "SCTID:35600002", "UMLS:C0750903"]}
{"category": ["biolink:Disease"], "description": "Decreased vision that results from abnormal visual development.", "id": "MONDO:0001020", "name": "Amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["amblyopia", "amblyopia (disease)"], "xref": ["CSP:1114-9655", "DOID:10376", "HP:0000646", "ICD9:368.00", "MEDGEN:8009", "MESH:D000550", "NCIT:C118764", "SCTID:387742006", "UMLS:C0002418"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001021", "name": "Ametropic amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["refractive amblyopia"], "xref": ["DOID:10377", "ICD10CM:H53.02", "ICD9:368.03", "MEDGEN:508919", "SCTID:90927000", "UMLS:C0152190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001022", "name": "Disuse amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deprivation amblyopia"], "xref": ["DOID:10378", "ICD10CM:H53.01", "ICD9:368.02", "MEDGEN:508918", "SCTID:193638002", "UMLS:C0152189", "icd11.foundation:11516018"]}
{"category": ["biolink:Disease"], "description": "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.", "id": "MONDO:0001023", "name": "Prolymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["prolymphocytic leukaemia (B or T)", "prolymphocytic leukaemia (B or T-cell)", "prolymphocytic leukemia", "prolymphocytic leukemia (B or T)", "prolymphocytic leukemia (B or T-cell)"], "xref": ["DOID:1039", "GARD:0011965", "ICD9:204.80", "ICDO:9832/3", "MEDGEN:6062", "MESH:D015463", "NCIT:C3181", "SCTID:110006004", "UMLS:C0023486"]}
{"category": ["biolink:Disease"], "description": "A plague in which the bacteria have infected the lungs.", "id": "MONDO:0001024", "name": "Pneumonic plague", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10398", "GARD:0022865", "ICD10CM:A20.2", "ICD9:020.3", "ICD9:020.4", "ICD9:020.5", "MEDGEN:105580", "SCTID:35339003", "UMLS:C0524688", "icd11.foundation:1983098110"]}
{"category": ["biolink:Disease"], "description": "Chronic form of gonococcal seminal vesiculitis.", "id": "MONDO:0001025", "name": "Seminal vesicle chronic gonorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic gonococcal seminal vesiculitis", "gonococcal seminal vesiculitis, chronic"], "xref": ["DOID:10399", "ICD9:098.34", "MEDGEN:509202", "SCTID:23975003", "UMLS:C0153205", "icd11.foundation:953953221"]}
{"category": ["biolink:Disease"], "description": "A gonorrhea that involves the seminal vesicle.", "id": "MONDO:0001027", "name": "Gonococcal seminal vesiculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonococcal seminal vesiculitis (acute)", "gonorrhoea of seminal vesicle", "seminal vesicle gonorrhea", "seminal vesicle gonorrhoea"], "xref": ["DOID:10400", "MEDGEN:662073", "SCTID:301990003", "UMLS:C0578661", "icd11.foundation:1226540022"]}
{"category": ["biolink:Disease"], "description": "An acute inflammatory process that affects the tissues that surround and support the teeth.", "id": "MONDO:0001028", "name": "Acute pericementitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute periodontitis", "periodontitis, acute"], "xref": ["DOID:10423", "ICD9:523.3", "ICD9:523.33", "MEDGEN:1319", "NCIT:C34354", "SCTID:21638000", "UMLS:C0001342", "icd11.foundation:792986757"]}
{"category": ["biolink:Disease"], "description": "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.", "id": "MONDO:0001029", "name": "Klippel-feil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Klippel-Feil Sequence"], "xref": ["DOID:10426", "GARD:0010280", "ICD10CM:Q76.1", "ICD9:756.16", "MEDGEN:9645", "MESH:D007714", "NCIT:C98967", "OMIMPS:118100", "Orphanet:2345", "SCTID:5601008", "UMLS:C0022738", "icd11.foundation:2139186992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001030", "name": "Keratoconus, stable condition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10428", "GARD:0022866", "ICD9:371.61", "MEDGEN:509801", "SCTID:193844000", "UMLS:C0155131"]}
{"category": ["biolink:Disease"], "description": "Acute form of suppurative otitis media.", "id": "MONDO:0001031", "name": "Purulent acute otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute suppurative otitis media", "suppurative otitis media, acute"], "xref": ["DOID:10435", "ICD10CM:H66.0", "ICD9:382.02", "MEDGEN:543338", "SCTID:194281003", "UMLS:C0271431", "icd11.foundation:214476774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001032", "name": "Mooren ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:10439", "GARD:0022132", "ICD9:370.07", "MEDGEN:509770", "Orphanet:519408", "SCTID:22440001", "UMLS:C0155072", "icd11.foundation:470174149"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001033", "name": "Mycotic corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10440", "ICD10CM:H16.06", "ICD9:370.05", "MEDGEN:509769", "SCTID:397977001", "UMLS:C0155071", "icd11.foundation:1756043578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001034", "name": "Marginal corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10441", "ICD10CM:H16.04", "ICD9:370.01", "MEDGEN:509765", "SCTID:47398006", "UMLS:C0155067", "icd11.foundation:2035123281"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001035", "name": "Hypopyon ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10442", "GARD:0022867", "ICD9:370.04", "MEDGEN:509768", "SCTID:6395007", "UMLS:C0155070", "icd11.foundation:178460613"]}
{"category": ["biolink:Disease"], "description": "An accumulation of pus in the anterior chamber of the eye.", "id": "MONDO:0001036", "name": "Hypopyon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10443", "GARD:0022868", "ICD10CM:H20.05", "ICD9:364.05", "MEDGEN:43802", "NCIT:C50593", "SCTID:87807004", "UMLS:C0020641", "icd11.foundation:803985395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001037", "name": "Ring corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10444", "ICD10CM:H16.02", "ICD9:370.02", "MEDGEN:509766", "SCTID:111520007", "UMLS:C0155068", "icd11.foundation:1877531217"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001038", "name": "Perforated corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10445", "ICD10CM:H16.07", "ICD9:370.06", "MEDGEN:508831", "SCTID:46606001", "UMLS:C0151844", "icd11.foundation:232838320"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the tonsillar tissue.", "id": "MONDO:0001039", "name": "Tonsillitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic tonsillitis", "inflammation of tonsil", "tonsil inflammation", "tonsilitis"], "xref": ["DOID:10456", "ICD10CM:J35.01", "ICD9:474.00", "MEDGEN:1781351", "MESH:D014069", "NCIT:C116006", "SCTID:90979004", "UMLS:C0740402"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process that affects the nasopharynx.", "id": "MONDO:0001040", "name": "Nasopharyngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of nasopharynx", "nasopharynx inflammation"], "xref": ["DOID:10460", "ICD9:472.2", "MEDGEN:6527", "MESH:D009304", "NCIT:C34837", "SCTID:47841006", "UMLS:C0027441"]}
{"category": ["biolink:Disease"], "description": "A dental caries that involves the dentine.", "id": "MONDO:0001041", "name": "Dentin caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dental caries extending into dentine", "dental caries of dentine", "dentine dental caries"], "xref": ["DOID:10461", "ICD9:521.02", "MEDGEN:540210", "SCTID:442551007", "UMLS:C0266846", "icd11.foundation:1620059450"]}
{"category": ["biolink:Disease"], "description": "A tendinitis that involves the patella.", "id": "MONDO:0001042", "name": "Patellar tendinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["patella tendinitis", "patellar tendonitis", "tendinitis of patella"], "xref": ["DOID:10471", "ICD10CM:M76.5", "ICD9:726.64", "MEDGEN:510513", "SCTID:37785001", "UMLS:C0158317", "icd11.foundation:1366847963"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.", "id": "MONDO:0001044", "name": "Esophageal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital atresia of esophagus", "congenital atresia of oesophagus", "congenital esophageal atresia", "congenital imperforate oesophagus", "esophageal atresia", "esophageal atresia (disease)", "imperforate oesophagus"], "xref": ["DOID:10485", "HP:0002032", "ICD9:750.3", "MEDGEN:4545", "MESH:D004933", "NCIT:C87072", "SCTID:26179002", "UMLS:C0014850"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.", "id": "MONDO:0001045", "name": "Intestinal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "synonym": ["atresia of the intestine", "congenital intestinal atresia", "intestinal atresia", "intestinal atresia (disease)"], "xref": ["DOID:10486", "HP:0011100", "MEDGEN:7129", "MESH:D007409", "NCIT:C84790", "UMLS:C0021828"]}
{"category": ["biolink:Disease"], "description": "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.", "id": "MONDO:0001046", "name": "Imperforate anus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anal atresia", "anus, imperforate", "congenital atresia of anus", "imperforate anus"], "xref": ["DOID:10488", "GARD:0006769", "ICD10CM:Q42.3", "MEDGEN:1997", "MESH:D001006", "NCIT:C84784", "NORD:1299", "OMIM:207500", "OMIM:301800", "SCTID:204731006", "UMLS:C0003466", "icd11.foundation:290678165", "icd11.foundation:515168801"]}
{"category": ["biolink:Disease"], "description": "A granuloma located on the orbit of the eye.", "id": "MONDO:0001048", "name": "Orbital granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10499", "ICD9:376.11", "MEDGEN:102330", "SCTID:72776003", "UMLS:C0155262"]}
{"category": ["biolink:Disease"], "description": "A pericarditis characterized by inflammation, occurring after injury, located in pericardium.", "id": "MONDO:0001049", "name": "Dressler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dressler syndrome", "Dressler's syndrome", "postmyocardial infarction syndrome"], "xref": ["DOID:10507", "ICD10CM:I24.1", "ICD9:411.0", "MEDGEN:508890", "SCTID:66189004", "UMLS:C0152107", "icd11.foundation:1353640147"]}
{"category": ["biolink:Disease"], "description": "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.", "id": "MONDO:0001050", "name": "Malignant otitis externa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10516", "ICD10CM:H60.2", "ICD9:380.14", "MEDGEN:509950", "SCTID:94146005", "UMLS:C0155395", "icd11.foundation:984580942"]}
{"category": ["biolink:Disease"], "description": "Acute form of otitis externa.", "id": "MONDO:0001051", "name": "Acute otitis externa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute otitis externa", "acute swimmers' ear", "otitis externa, acute"], "xref": ["DOID:10518", "ICD9:380.12", "MEDGEN:508459", "SCTID:30250000", "UMLS:C0149948"]}
{"category": ["biolink:Disease"], "description": "Chronic form of otomycosis.", "id": "MONDO:0001052", "name": "Chronic fungal otitis externa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic mycotic otitis externa", "chronic otomycosis", "otomycosis, chronic"], "xref": ["DOID:10519", "ICD9:380.15", "MEDGEN:509951", "SCTID:111898002", "UMLS:C0155396"]}
{"category": ["biolink:Disease"], "description": "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.", "id": "MONDO:0001053", "name": "Acute infection of pinna", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10520", "ICD9:380.11", "MEDGEN:509948", "SCTID:56663002", "UMLS:C0155392"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001054", "name": "Double pterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10525", "ICD9:372.44", "MEDGEN:509817", "SCTID:41564009", "UMLS:C0155157"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001055", "name": "Conjunctival pterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10526", "MEDGEN:1625284", "UMLS:C4520843"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the stomach.", "id": "MONDO:0001056", "name": "Gastric cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["Ca lesser curvature - stomach", "GC", "cancer of stomach", "gastric cancer", "gastric cancer risk after h. pylori infection", "gastric cancer, somatic", "malignant gastric neoplasm", "malignant gastric tumor", "malignant gastric tumour", "malignant neoplasm of lesser curve of stomach", "malignant neoplasm of stomach", "malignant neoplasm of the stomach", "malignant stomach neoplasm", "malignant tumor of body of stomach", "malignant tumor of greater curve of stomach", "malignant tumor of lesser curve of stomach", "malignant tumor of stomach", "malignant tumor of the stomach", "malignant tumour of body of stomach", "malignant tumour of greater curve of stomach", "malignant tumour of lesser curve of stomach", "malignant tumour of stomach", "malignant tumour of the stomach", "stomach cancer"], "xref": ["DOID:10534", "GARD:0007704", "ICD10CM:C16", "ICD9:151", "ICD9:151.4", "ICD9:151.5", "ICD9:151.6", "ICD9:151.9", "MEDGEN:44264", "NCIT:C9331", "OMIM:613659", "UMLS:C0024623", "icd11.foundation:1397617262"]}
{"category": ["biolink:Disease"], "description": "A metastasizing granular cell tumor that arises from the stomach.", "id": "MONDO:0001057", "name": "Malignant gastric granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant gastric granular cell neoplasm", "malignant gastric granular cell tumor", "malignant granular cell neoplasm of stomach", "malignant granular cell neoplasm of the stomach", "malignant granular cell stomach neoplasm", "malignant granular cell stomach tumor", "malignant granular cell stomach tumour", "malignant granular cell tumor of stomach", "malignant granular cell tumor of the stomach", "malignant granular cell tumour of the stomach"], "xref": ["DOID:10536", "GARD:0022870", "MEDGEN:233664", "NCIT:C5484", "UMLS:C1334585"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.", "id": "MONDO:0001059", "name": "Gastric lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Primary Gastric Lymphoma", "gastric lymphoma", "lymphoma of stomach", "lymphoma of the stomach", "primary gastric lymphoma", "stomach lymphoma"], "xref": ["DOID:10540", "GARD:0022871", "ICD9:202.83", "MEDGEN:87603", "NCIT:C4636", "NORD:1607", "SCTID:276811008", "UMLS:C0349532"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.", "id": "MONDO:0001060", "name": "Microinvasive gastric cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EGC", "early gastric cancer", "superficial gastric cancer", "superficial spreading gastric cancer", "surface gastric cancer"], "xref": ["DOID:10541", "GARD:0027565", "MEDGEN:138098", "NCIT:C27131", "SCTID:276809004", "UMLS:C0349530"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the pylorus.", "id": "MONDO:0001061", "name": "Pylorus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of pylorus", "malignant neoplasm of Prepylorus", "malignant neoplasm of pylorus", "malignant pylorus neoplasm", "malignant tumour of pylorus", "pylorus cancer"], "xref": ["DOID:10544", "GARD:0027566", "ICD10CM:C16.4", "ICD9:151.1", "MEDGEN:509281", "NCIT:C188051", "SCTID:187736009", "UMLS:C0153418", "icd11.foundation:1085414438"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the pyloric antrum.", "id": "MONDO:0001062", "name": "Pyloric antrum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of pyloric antrum", "malignant neoplasm of pyloric antrum", "malignant pyloric antrum neoplasm", "malignant tumour of pyloric antrum", "pyloric antrum cancer"], "xref": ["DOID:10547", "GARD:0027567", "ICD10CM:C16.3", "ICD9:151.2", "MEDGEN:509282", "SCTID:187740000", "UMLS:C0153419"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the cardia of stomach.", "id": "MONDO:0001063", "name": "Cardia cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of cardia of stomach", "cardia of stomach cancer", "malignant cardia of stomach neoplasm", "malignant neoplasm of cardia of stomach"], "xref": ["DOID:10548", "GARD:0027568", "ICD9:151.0", "MEDGEN:509280", "SCTID:187732006", "UMLS:C0153417"]}
{"category": ["biolink:Disease"], "description": "Acute form of otosalpingitis.", "id": "MONDO:0001064", "name": "Acute eustachian salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute otosalpingitis", "otosalpingitis, acute"], "xref": ["DOID:10550", "ICD10CM:H68.01", "ICD9:381.51", "MEDGEN:509961", "SCTID:194268005", "UMLS:C0155429"]}
{"category": ["biolink:Disease"], "description": "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.", "id": "MONDO:0001065", "name": "Supine hypotensive syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10556", "HP:0008071", "ICD10CM:O26.5", "ICD9:669.20", "MEDGEN:574749", "SCTID:88887003", "UMLS:C0341966"]}
{"category": ["biolink:Disease"], "description": "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.", "id": "MONDO:0001066", "name": "Late yaws", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gummata and ulcers due to yaws", "gummatous frambeside", "nodular late yaws"], "xref": ["DOID:10567", "GARD:0022872", "ICD10CM:A66.4", "ICD9:102.1", "ICD9:102.4", "MEDGEN:276026", "NCIT:C41354", "SCTID:186968004", "UMLS:C1517744"]}
{"category": ["biolink:Disease"], "description": "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.", "id": "MONDO:0001067", "name": "Early yaws", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone and joint lesions due to yaws", "initial lesions of yaws"], "xref": ["DOID:10568", "GARD:0022873", "ICD9:102.0", "ICD9:102.2", "ICD9:102.6", "MEDGEN:124440", "NCIT:C41352", "SCTID:23191004", "UMLS:C0275998"]}
{"category": ["biolink:Disease"], "description": "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003", "id": "MONDO:0001068", "name": "Osteomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteomalacia", "osteomalacia (disease)"], "xref": ["DOID:10573", "HP:0002749", "ICD9:268.2", "MEDGEN:14533", "MESH:D010018", "NCIT:C26838", "SCTID:4598005", "UMLS:C0029442"]}
{"category": ["biolink:Disease"], "description": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.", "id": "MONDO:0001071", "name": "Intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intellectual disabilities", "intellectual disability"], "xref": ["DOID:1059", "ICD10CM:F70-F79", "ICD9:319", "MEDGEN:811461", "MESH:D008607", "NCIT:C97250", "Orphanet:319658", "SCTID:91138005", "UMLS:C3714756", "icd11.foundation:605267007"]}
{"category": ["biolink:Disease"], "description": "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.", "id": "MONDO:0001072", "name": "Mild pre-eclampsia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10590", "ICD9:642.41", "ICD9:642.42", "ICD9:642.43", "ICD9:642.44", "MEDGEN:542203", "SCTID:41114007", "UMLS:C0269658", "icd11.foundation:690705840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001073", "name": "Idiopathic progressive polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10593", "GARD:0022875", "ICD9:356.4", "MEDGEN:509646", "SCTID:33209009", "UMLS:C0154756"]}
{"category": ["biolink:Disease"], "description": "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.", "id": "MONDO:0001074", "name": "Chronic tic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic motor or vocal tic disorder", "tic disorder, chronic"], "xref": ["DOID:10600", "ICD10CM:F95.1", "ICD9:307.22", "MEDGEN:40301", "NCIT:C116768", "UMLS:C0008701"]}
{"category": ["biolink:Disease"], "description": "A finding of an excessive amount of fat in the stool.", "id": "MONDO:0001075", "name": "Steatorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fatty stool", "fatty stool (finding)", "steatorrhea", "steatorrhea (disease)"], "xref": ["DOID:10602", "HP:0002570", "MEDGEN:20948", "MESH:D045602", "NCIT:C86917", "SCTID:27868004", "UMLS:C0038238", "icd11.foundation:1611008596"]}
{"category": ["biolink:Disease"], "description": "The inability to regulate blood glucose levels resulting in hyperglycemia.", "id": "MONDO:0001076", "name": "Glucose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glucose: [intolerance] or [malabsorption]", "glucose: intolerance", "glucose: malabsorption"], "xref": ["DOID:10603", "ICD9:271.3", "MEDGEN:75760", "MESH:D018149", "NCIT:C34646", "SCTID:267426009", "UMLS:C0271650", "icd11.foundation:1392580302"]}
{"category": ["biolink:Disease"], "description": "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.", "id": "MONDO:0001078", "name": "Tropical sprue", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["post-infective tropical malabsorption", "tropical steatorrhea"], "xref": ["DOID:10607", "ICD10CM:K90.1", "ICD9:579.1", "MEDGEN:21300", "MESH:D013182", "NCIT:C45428", "SCTID:47384003", "UMLS:C0038054", "icd11.foundation:316377284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001079", "name": "Pancreatic steatorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pancreatic steatorrhoea"], "xref": ["DOID:10610", "ICD10CM:K90.3", "ICD9:579.4", "MEDGEN:508909", "SCTID:54576000", "UMLS:C0152166", "icd11.foundation:54334889"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal cervicitis.", "id": "MONDO:0001080", "name": "Acute gonococcal cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gonorrhoea of cervix", "gonococcal cervicitis (acute)", "gonococcal cervicitis, acute"], "xref": ["DOID:10615", "ICD9:098.15", "MEDGEN:509197", "SCTID:20943002", "UMLS:C0153195", "icd11.foundation:2071927498"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.", "id": "MONDO:0001081", "name": "Acute cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute cervicitis (disease)", "cervicitis (disease), acute"], "xref": ["DOID:10616", "MEDGEN:124346", "NCIT:C27056", "SCTID:19272000", "UMLS:C0269061", "icd11.foundation:411422080"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004", "id": "MONDO:0001082", "name": "Lymph node cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of lymph node", "lymph node cancer", "malignant lymph node neoplasm", "malignant neoplasm of lymph node"], "xref": ["DOID:10619", "GARD:0022877", "ICD9:239.89", "MEDGEN:182690", "NCIT:C35812", "SCTID:127232002", "UMLS:C0948627"]}
{"category": ["biolink:Disease"], "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", "id": "MONDO:0001083", "name": "Fanconi renotubular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["De toni-debre-Fanconi syndrome", "Fanconi syndrome", "Fanconi's syndrome", "Fanconi-de toni syndrome", "Lignac-Fanconi syndrome"], "xref": ["DOID:1062", "GARD:0009120", "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", "icd11.foundation:788002727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001084", "name": "Primary optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10627", "ICD10CM:H47.21", "ICD9:377.11", "MEDGEN:509897", "SCTID:21098003", "UMLS:C0155291"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the renal tubules and supporting tissues of the kidney.", "id": "MONDO:0001085", "name": "Interstitial nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Tubulointerstitial nephritis"], "xref": ["DOID:1063", "ICD10CM:N10-N16", "ICD9:583.89", "MEDGEN:11952", "MESH:D009395", "NANDO:2200136", "NCIT:C26834", "SCTID:28689008", "UMLS:C0041349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001086", "name": "Partial optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10631", "ICD9:377.15", "MEDGEN:509900", "SCTID:111527005", "UMLS:C0155295"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.", "id": "MONDO:0001087", "name": "Schizotypal personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10646", "ICD10CM:F21", "ICD9:301.22", "MEDGEN:1826899", "MESH:D012569", "NCIT:C92632", "SCTID:31027006", "UMLS:C1443045", "icd11.foundation:18178000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001088", "name": "Acute inferoposterior infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute inferoposterior myocardial infarction", "acute myocardial infarction of inferoposterior wall"], "xref": ["DOID:10648", "ICD9:410.30", "ICD9:410.31", "ICD9:410.32", "MEDGEN:573662", "SCTID:76593002", "UMLS:C0340304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001089", "name": "Acute inferolateral myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute myocardial infarction of inferolateral wall"], "xref": ["DOID:10649", "ICD9:410.20", "ICD9:410.21", "ICD9:410.22", "MEDGEN:573665", "SCTID:65547006", "UMLS:C0340308"]}
{"category": ["biolink:Disease"], "description": "Acute form of anterolateral myocardial infarction.", "id": "MONDO:0001090", "name": "Acute anterolateral myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute myocardial infarction of anterolateral wall", "anterolateral myocardial infarction, acute"], "xref": ["DOID:10651", "ICD9:410.0", "ICD9:410.00", "ICD9:410.01", "ICD9:410.02", "MEDGEN:510040", "SCTID:70211005", "UMLS:C0155627"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.", "id": "MONDO:0001091", "name": "Lipoma of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colon lipoma", "colonic lipoma", "lipoma of colon", "lipoma of the colon"], "xref": ["DOID:10655", "MEDGEN:182652", "NCIT:C5493", "UMLS:C0940607"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0001092", "name": "Colon leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colon leiomyoma", "colonic leiomyoma", "leiomyoma of colon", "leiomyoma of the colon"], "xref": ["DOID:10656", "MEDGEN:232379", "NCIT:C5492", "UMLS:C1333092"]}
{"category": ["biolink:Disease"], "description": "A lymphangioma arising from the colon.", "id": "MONDO:0001093", "name": "Colonic lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colon lymphangioma", "colonic lymphangioma", "lymphangioma of colon", "lymphangioma of the colon"], "xref": ["DOID:10657", "GARD:0022878", "MEDGEN:232381", "NCIT:C5500", "UMLS:C1333094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001094", "name": "Residual stage of open angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1066", "ICD9:365.15", "MEDGEN:509733", "SCTID:66990007", "UMLS:C0154944"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma arising from the mediastinum.", "id": "MONDO:0001095", "name": "Mediastinum neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mediastinum neuroblastoma", "neuroblastoma of mediastinum"], "xref": ["DOID:10660", "EFO:1000367", "GARD:0022879", "MEDGEN:235313", "NCIT:C6628", "UMLS:C1334673"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroblastoma arising from the mediastinum.", "id": "MONDO:0001096", "name": "Mediastinum ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ganglioneuroblastoma (disease) of mediastinum", "ganglioneuroblastoma of mediastinum", "ganglioneuroblastoma of the mediastinum", "mediastinal ganglioneuroblastoma", "mediastinum ganglioneuroblastoma (disease)"], "xref": ["DOID:10661", "GARD:0022880", "MEDGEN:235308", "NCIT:C6627", "UMLS:C1334653"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.", "id": "MONDO:0001098", "name": "Separation anxiety disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10685", "EFO:1001916", "MEDGEN:1999", "MESH:D001010", "NCIT:C35014", "SCTID:11806006", "UMLS:C0003477", "icd11.foundation:830200631"]}
{"category": ["biolink:Disease"], "description": "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.", "id": "MONDO:0001099", "name": "Galactocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["galactocele"], "xref": ["DOID:10686", "GARD:0008401", "ICD9:611.5", "MEDGEN:101829", "MESH:C535998", "NCIT:C3515", "SCTID:42385006", "UMLS:C0152243", "icd11.foundation:1987155556"]}
{"category": ["biolink:Disease"], "description": "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.", "id": "MONDO:0001100", "name": "Hypertrophy of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast Hypertrophy", "gigantomastia", "hypertrophy of the breast", "macromastia"], "xref": ["DOID:10688", "ICD10CM:N62", "ICD10WHO:N62", "ICD9:611.1", "MEDGEN:43789", "NCIT:C3125", "SCTID:372281005", "UMLS:C0020565", "icd11.foundation:2078176266"]}
{"category": ["biolink:Disease"], "description": "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.", "id": "MONDO:0001101", "name": "Fat necrosis of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast fat necrosis", "fat Necrosis of the breast"], "xref": ["DOID:10691", "ICD10CM:N64.1", "ICD9:611.3", "MEDGEN:57847", "NCIT:C3661", "SCTID:21381006", "UMLS:C0156321", "icd11.foundation:149925294"]}
{"category": ["biolink:Disease"], "description": "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.", "id": "MONDO:0001103", "name": "Giardiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Giardia infection"], "xref": ["DOID:10718", "ICD10CM:A07.1", "ICD9:007.1", "MEDGEN:42213", "MESH:D005873", "SCTID:10679007", "UMLS:C0017536", "icd11.foundation:433310499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001104", "name": "Toxic diffuse goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10719", "ICD10CM:E05.0", "ICD9:242.00", "MEDGEN:488851", "SCTID:267374005", "UMLS:C0342122"]}
{"category": ["biolink:Disease"], "description": "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.", "id": "MONDO:0001105", "name": "Renal hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1073", "EFO:1002039", "MEDGEN:5700", "MESH:D006977", "NANDO:2100016", "NANDO:2200141", "SCTID:28119000", "UMLS:C0020544"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.", "id": "MONDO:0001106", "name": "Kidney failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["failure, renal", "renal failure", "renal failure syndrome", "renal insufficiency"], "xref": ["DOID:1074", "EFO:1002048", "ICD9:404.12", "ICD9:404.13", "ICD9:586", "MEDGEN:11177", "MESH:D051437", "NCIT:C4376", "SCTID:42399005", "UMLS:C0035078", "icd11.foundation:761526554"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the broad ligament of uterus.", "id": "MONDO:0001108", "name": "Broad ligament malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["broad ligament of uterus cancer", "cancer of broad ligament of uterus", "malignant broad ligament of uterus neoplasm", "malignant neoplasm of broad ligament of uterus"], "xref": ["DOID:10744", "ICD9:183.3", "MEDGEN:577691", "NCIT:C179934", "SCTID:449259009", "UMLS:C0346866"]}
{"category": ["biolink:Disease"], "description": "Inflammation of petrous bone.", "id": "MONDO:0001109", "name": "Petrositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["inflammation of petrous part of temporal bone", "petrous part of temporal bone inflammation"], "xref": ["DOID:10755", "GARD:0022881", "ICD10CM:H70.2", "ICD9:383.2", "ICD9:383.20", "ICD9:383.21", "ICD9:383.22", "MEDGEN:452133", "MESH:D059270", "SCTID:28593007", "UMLS:C0155448", "icd11.foundation:716546173"]}
{"category": ["biolink:Disease"], "description": "Persistent pyelonephritis.", "id": "MONDO:0001110", "name": "Chronic pyelonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pyelonephritis, chronic"], "xref": ["DOID:1076", "ICD9:590.0", "MEDGEN:39090", "NANDO:2100012", "NANDO:2200137", "NCIT:C123216", "SCTID:63302006", "UMLS:C0085697", "icd11.foundation:1346439976"]}
{"category": ["biolink:Disease"], "description": "A plague in which the bacteria have infected the lymphatic system.", "id": "MONDO:0001112", "name": "Bubonic plague", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10773", "GARD:0000183", "ICD10CM:A20.0", "ICD9:020.0", "MEDGEN:76407", "SCTID:50797007", "UMLS:C0282312", "icd11.foundation:1742025109"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001113", "name": "Fiedler's myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["idiopathic myocarditis"], "xref": ["DOID:10778", "GARD:0022882", "ICD10CM:I40.1", "ICD9:422.91", "MEDGEN:510047", "SCTID:266238009", "UMLS:C0155689"]}
{"category": ["biolink:Disease"], "description": "Myocarditis that is caused by an infection with a bacterial agent.", "id": "MONDO:0001114", "name": "Bacterial myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["septic myocarditis"], "xref": ["DOID:10779", "GARD:0022883", "ICD10CM:I40.0", "ICD9:422.92", "MEDGEN:730492", "NCIT:C128380", "SCTID:64043005", "UMLS:C1384588", "icd11.foundation:900037931"]}
{"category": ["biolink:Disease"], "description": "Polycythemia that occurs in groups of related individuals.", "id": "MONDO:0001115", "name": "Familial polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["erythrocytosis, familial", "familial polycythemia", "hereditary polycythemia (disease)"], "xref": ["DOID:10780", "GARD:0022884", "ICD10CM:D75.0", "MEDGEN:57520", "NANDO:2100187", "NANDO:2200644", "NCIT:C26955", "OMIMPS:133100", "UMLS:C0152264"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mesenteric lymph nodes.", "id": "MONDO:0001116", "name": "Mesenteric lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphadenitis (disease) of mesentery", "mesenteric adenitis", "mesenteric lymphadenitis", "mesentery lymphadenitis (disease)"], "xref": ["DOID:10782", "ICD10CM:I88.0", "ICD9:289.2", "MEDGEN:6318", "MESH:D008640", "NCIT:C26830", "SCTID:44897000", "UMLS:C0025469", "icd11.foundation:637335249"]}
{"category": ["biolink:Disease"], "description": "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.", "id": "MONDO:0001117", "name": "Methemoglobinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["methemoglobinemias"], "xref": ["DOID:10783", "GARD:0022885", "ICD10CM:D74", "ICD9:289.7", "MEDGEN:6339", "MESH:D008708", "MedDRA:10027496", "NCIT:C34817", "SCTID:38959009", "UMLS:C0025637"]}
{"category": ["biolink:Disease"], "description": "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.", "id": "MONDO:0001118", "name": "Queensland tick typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10784", "GARD:0022886", "ICD10CM:A77.3", "ICD9:082.3", "MEDGEN:755996", "SCTID:68981009", "UMLS:C2979888", "icd11.foundation:2020851679"]}
{"category": ["biolink:Disease"], "description": "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.", "id": "MONDO:0001119", "name": "Premature menopause", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["POF", "early menopause", "premature menopause", "premature ovarian failure"], "xref": ["DOID:10787", "EFO:0009005", "ICD10CM:E28.31", "ICD9:256.31", "ICD9:256.39", "MEDGEN:9963", "MESH:D008594", "NCIT:C80099", "SCTID:237788002", "UMLS:C0025322"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.", "id": "MONDO:0001120", "name": "Chronic frontal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["frontal sinusitis, chronic"], "xref": ["DOID:10790", "ICD10CM:J32.1", "ICD9:473.1", "MEDGEN:3455", "NCIT:C34473", "SCTID:60130002", "UMLS:C0008683", "icd11.foundation:881075891"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.", "id": "MONDO:0001121", "name": "Frontal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10791", "MEDGEN:8919", "MESH:D015522", "NCIT:C34626", "SCTID:78737005", "UMLS:C0016735"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.", "id": "MONDO:0001122", "name": "Chronic maxillary sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic antritis", "maxillary sinusitis, chronic"], "xref": ["DOID:10792", "ICD10CM:J32.0", "ICD9:473.0", "MEDGEN:966", "NCIT:C34477", "SCTID:35923002", "UMLS:C0008698", "icd11.foundation:1372580647"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.", "id": "MONDO:0001123", "name": "Chronic sphenoidal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic sphenoid sinusitis", "sphenoid sinusitis, chronic"], "xref": ["DOID:10793", "ICD10CM:J32.3", "ICD9:473.3", "MEDGEN:3087", "NCIT:C34480", "SCTID:38961000", "UMLS:C0008712", "icd11.foundation:627227610"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal epididymo-orchitis.", "id": "MONDO:0001125", "name": "Acute gonococcal epididymo-orchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonococcal epididymo-orchitis (acute)", "gonococcal epididymo-orchitis, acute"], "xref": ["DOID:10802", "ICD9:098.13", "MEDGEN:509195", "SCTID:30168008", "UMLS:C0153193"]}
{"category": ["biolink:Disease"], "description": "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.", "id": "MONDO:0001126", "name": "Gastric ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastric ulcer", "gastric ulcer (disease)", "peptic ulcer disease of stomach", "stomach peptic ulcer disease"], "xref": ["DOID:10808", "EFO:0009454", "HP:0002592", "ICD10CM:K25", "ICD10WHO:K25", "ICD9:531", "MEDGEN:21330", "MESH:D013276", "NCIT:C3388", "SCTID:397825006", "UMLS:C0038358", "icd11.foundation:1437411258"]}
{"category": ["biolink:Disease"], "description": "A tendinitis that involves the tibialis.", "id": "MONDO:0001127", "name": "Tibialis tendinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tendinitis of tibialis", "tibialis tendinitis"], "xref": ["DOID:10810", "GARD:0022887", "ICD9:726.72", "MEDGEN:510515", "SCTID:50127006", "UMLS:C0158321"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the nasal cavity", "id": "MONDO:0001128", "name": "Nasal cavity cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of nasal cavity", "malignant nasal cavity neoplasm", "malignant nasal cavity tumor", "malignant nasal cavity tumour", "malignant neoplasm of nasal cavities", "malignant neoplasm of nasal cavity", "malignant neoplasm of the nasal cavity", "malignant tumor of nasal cavity", "malignant tumor of the nasal cavity", "malignant tumour of nasal cavity", "malignant tumour of the nasal cavity", "nasal cavity cancer"], "xref": ["DOID:10811", "ICD10CM:C30.0", "ICD9:160.0", "MEDGEN:152601", "NCIT:C4918", "SCTID:363422006", "UMLS:C0728864", "icd11.foundation:1078206702"]}
{"category": ["biolink:Disease"], "description": "An olfactory neuroblastoma arising in the nasal cavity.", "id": "MONDO:0001129", "name": "Nasal cavity olfactory neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nasal cavity olfactory neuroblastoma", "olfactory neuroblastoma of nasal cavity", "olfactory neuroblastoma of the nasal cavity"], "xref": ["DOID:10812", "GARD:0022888", "MEDGEN:233749", "NCIT:C7604", "UMLS:C1334923"]}
{"category": ["biolink:Disease"], "description": "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.", "id": "MONDO:0001130", "name": "Nasal cavity lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of nasal cavity", "lymphoma of the nasal cavity", "nasal cavity lymphoma", "primary nasal cavity lymphoma"], "xref": ["DOID:10813", "GARD:0022889", "MEDGEN:233747", "NCIT:C6074", "UMLS:C1334921"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.", "id": "MONDO:0001132", "name": "Sexual sadism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sexual sadism"], "xref": ["DOID:10817", "ICD10CM:F65.52", "ICD9:302.84", "MEDGEN:19957", "MESH:D012448", "NCIT:C94358", "SCTID:59394009", "UMLS:C0036913"]}
{"category": ["biolink:Disease"], "description": "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.", "id": "MONDO:0001133", "name": "Malignant essential hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["accelerated essential hypertension", "malignant essential hypertension"], "xref": ["DOID:10823", "ICD9:401.0", "MEDGEN:9866", "NCIT:C34802", "SCTID:78975002", "UMLS:C0024588", "icd11.foundation:644961579"]}
{"category": ["biolink:Disease"], "description": "Hypertension that presents without an identifiable cause.", "id": "MONDO:0001134", "name": "Essential hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["idiopathic hypertension", "primary hypertension"], "xref": ["DOID:10825", "ICD9:401", "ICD9:401.9", "MEDGEN:88442", "MESH:D000075222", "Orphanet:243761", "SCTID:59621000", "UMLS:C0085580", "icd11.foundation:761947693"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.", "id": "MONDO:0001135", "name": "Voyeurism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10834", "ICD10CM:F65.3", "ICD9:302.82", "MEDGEN:12126", "MESH:D014843", "NCIT:C94360", "SCTID:63835008", "UMLS:C0042979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001136", "name": "Chylocele of tunica vaginalis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10835", "ICD9:608.84", "MEDGEN:510239", "SCTID:7864001", "UMLS:C0156315"]}
{"category": ["biolink:Disease"], "description": "An disease caused by infection with Murray Valley encephalitis virus.", "id": "MONDO:0001137", "name": "Murray valley encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Australian X disease", "Australian encephalitis", "Murray Valley encephalitis virus caused disease or disorder", "Murray Valley encephalitis virus disease or disorder", "Murray Valley encephalitis virus infectious disease"], "xref": ["DOID:10842", "ICD10CM:A83.4", "ICD9:062.4", "MEDGEN:509134", "SCTID:66454007", "UMLS:C0153066", "icd11.foundation:1040970454"]}
{"category": ["biolink:Disease"], "description": "A angiodysplasia that involves the intestine.", "id": "MONDO:0001138", "name": "Angiodysplasia of intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intestine angiodysplasia"], "xref": ["DOID:10846", "ICD9:569.84", "ICD9:569.85", "MEDGEN:540621", "SCTID:235853006", "UMLS:C0267367"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.", "id": "MONDO:0001139", "name": "Sexual masochism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sexual masochism"], "xref": ["DOID:10849", "ICD10CM:F65.51", "ICD9:302.83", "MEDGEN:20727", "MESH:D008398", "NCIT:C94356", "SCTID:51239001", "UMLS:C0036908"]}
{"category": ["biolink:Disease"], "description": "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.", "id": "MONDO:0001141", "name": "Middle ear cholesterol granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholesterin granuloma of middle ear"], "xref": ["DOID:10852", "ICD9:385.82", "MEDGEN:56364", "SCTID:28371001", "UMLS:C0155492"]}
{"category": ["biolink:Disease"], "description": "A disease involving the saliva-secreting gland.", "id": "MONDO:0001142", "name": "Salivary gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of saliva-secreting gland", "disease or disorder of saliva-secreting gland", "disorder of saliva-secreting gland", "saliva-secreting gland disease", "saliva-secreting gland disease or disorder", "salivary gland disease", "salivary gland disorder"], "xref": ["DOID:10854", "EFO:0008581", "ICD9:527.8", "ICD9:527.9", "MEDGEN:892384", "MESH:D012466", "NCIT:C26879", "SCTID:10890000", "UMLS:C0149772", "icd11.foundation:1432273670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001143", "name": "Paralytic strabismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["paralytic squint"], "xref": ["DOID:10863", "EFO:0009678", "HP:0031775", "ICD10CM:H49", "ICD10WHO:H49", "ICD9:378.5", "ICD9:378.50", "MEDGEN:508935", "SCTID:400942002", "UMLS:C0152221", "icd11.foundation:1858781487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001144", "name": "Partial third-nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["third or oculomotor nerve palsy, partial"], "xref": ["DOID:10864", "GARD:0022890", "ICD9:378.51", "MEDGEN:75745", "SCTID:194118007", "UMLS:C0271370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001145", "name": "Total third-nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["third or oculomotor nerve palsy, total"], "xref": ["DOID:10866", "GARD:0022891", "ICD9:378.52", "MEDGEN:124396", "SCTID:194119004", "UMLS:C0271371"]}
{"category": ["biolink:Disease"], "description": "A cranial nerve palsy that involves the trochlear nerve.", "id": "MONDO:0001146", "name": "Fourth cranial nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve palsy of trochlear nerve", "fourth nerve palsy", "fourth or trochlear nerve palsy", "trochlear nerve cranial nerve palsy"], "xref": ["DOID:10869", "ICD9:378.53", "MEDGEN:75746", "SCTID:20610004", "UMLS:C0271375", "icd11.foundation:120848300"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.", "id": "MONDO:0001147", "name": "Meningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central nervous system meningocele", "meningocele", "meningocele (disease)"], "xref": ["DOID:1088", "HP:0002435", "MEDGEN:44356", "MESH:D008588", "NCIT:C101209", "NCIT:C105595", "Orphanet:93968", "SCTID:171131006", "UMLS:C0025299"]}
{"category": ["biolink:Disease"], "description": "A thrombophlebitis that involves the iliac vein.", "id": "MONDO:0001148", "name": "Iliac vein thrombophlebitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["iliac vein thrombophlebitis", "thrombophlebitis of iliac vein"], "xref": ["DOID:10880", "GARD:0022892", "ICD9:451.81", "MEDGEN:578307", "SCTID:42861008", "UMLS:C0347887"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.", "id": "MONDO:0001149", "name": "Microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephalus", "microcephaly", "microcephaly (disease)", "microencephaly"], "xref": ["DOID:10907", "HP:0000252", "ICD10CM:Q02", "ICD10WHO:Q02", "ICD9:742.1", "MEDGEN:1644158", "MESH:D008831", "NCIT:C85874", "SCTID:1829003", "UMLS:C4551563", "icd11.foundation:179350437"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.", "id": "MONDO:0001150", "name": "Hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10908", "ICD10CM:G91", "ICD10WHO:G91", "MEDGEN:9335", "MESH:D006849", "NCIT:C3111", "SCTID:230745008", "UMLS:C0020255", "icd11.foundation:574533444"]}
{"category": ["biolink:Disease"], "description": "A condition of mild to moderate high blood pressure that has no identifiable cause.", "id": "MONDO:0001151", "name": "Benign essential hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10913", "ICD9:401.1", "MEDGEN:56371", "SCTID:1201005", "UMLS:C0155583"]}
{"category": ["biolink:Disease"], "description": "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.", "id": "MONDO:0001152", "name": "Amnestic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10914", "ICD9:294.0", "MEDGEN:1882", "SCTID:3298001", "UMLS:C0002625", "icd11.foundation:386330688"]}
{"category": ["biolink:Disease"], "description": "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.", "id": "MONDO:0001154", "name": "Siberian tick typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["North Asian tick fever", "North Asian tick fever (disorder) [ambiguous]"], "xref": ["DOID:10921", "GARD:0022894", "ICD10CM:A77.2", "ICD9:082.2", "MEDGEN:639822", "SCTID:186781003", "UMLS:C0549160", "icd11.foundation:490238539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001155", "name": "Gastrojejunal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gastrojejunal ulcer with haemorrhage", "acute gastrojejunal ulcer with haemorrhage and obstruction", "acute gastrojejunal ulcer with haemorrhage and perforation", "acute gastrojejunal ulcer with haemorrhage and perforation, with obstruction", "acute gastrojejunal ulcer with hemorrhage", "acute gastrojejunal ulcer with perforation, with obstruction", "acute gastrojejunal ulcer without haemorrhage and without perforation", "acute gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction", "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction", "acute gastrojejunal ulcer, with hemorrhage, with obstruction", "chronic gastrojejunal ulcer without haemorrhage and without perforation", "chronic gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction", "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"], "xref": ["DOID:10927", "ICD10CM:K28", "ICD10CM:K28.0", "ICD10WHO:K28", "ICD9:534.0", "MEDGEN:730503", "SCTID:4269005", "UMLS:C1384631", "icd11.foundation:491213123"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.", "id": "MONDO:0001156", "name": "Borderline personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BPD", "borderline personality disorder", "borderline personality disorder (disease)"], "xref": ["DOID:10930", "HP:0012076", "ICD10CM:F60.3", "ICD9:301.83", "MEDGEN:14197", "MESH:D001883", "NCIT:C92633", "SCTID:20010003", "UMLS:C0006012", "icd11.foundation:189289487"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.", "id": "MONDO:0001157", "name": "Dependent personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10931", "ICD10CM:F60.7", "ICD9:301.6", "MEDGEN:4225", "MESH:D003859", "NCIT:C92637", "SCTID:84466009", "UMLS:C0011548", "icd11.foundation:1283123068"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.", "id": "MONDO:0001158", "name": "Obsessive-compulsive personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OCD"], "xref": ["DOID:10932", "ICD10CM:F60.5", "ICD9:301.4", "MEDGEN:40432", "MESH:D003193", "NCIT:C92638", "SCTID:1376001", "UMLS:C0009595", "icd11.foundation:1570535959"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.", "id": "MONDO:0001159", "name": "Multiple personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dissociative identity disorder"], "xref": ["DOID:10934", "ICD10CM:F44.81", "ICD9:300.14", "MEDGEN:44520", "MESH:D009105", "NCIT:C94330", "SCTID:31611000", "UMLS:C0026773", "icd11.foundation:1829103493"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.", "id": "MONDO:0001160", "name": "Dissociative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10935", "ICD9:300.15", "MEDGEN:3871", "MESH:D004213", "NCIT:C92197", "UMLS:C0012746"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.", "id": "MONDO:0001161", "name": "Schizoid personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10936", "ICD10CM:F60.1", "ICD9:301.2", "ICD9:301.20", "MEDGEN:20662", "MESH:D012557", "NCIT:C92631", "SCTID:52954000", "UMLS:C0036339", "icd11.foundation:1524611454"]}
{"category": ["biolink:Disease"], "description": "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.", "id": "MONDO:0001162", "name": "Impulse control disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ICD", "impulse-control disorder"], "xref": ["DOID:10937", "ICD9:312.30", "ICD9:312.39", "MEDGEN:5769", "NCIT:C34723", "SCTID:66347000", "UMLS:C0021122"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.", "id": "MONDO:0001163", "name": "Paranoid personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10938", "ICD10CM:F60.0", "ICD9:301.0", "MEDGEN:45321", "MESH:D010260", "NCIT:C92630", "SCTID:13601005", "UMLS:C0030477", "icd11.foundation:1066693864"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)", "id": "MONDO:0001164", "name": "Antisocial personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sociopathy", "asocial personality", "dissocial personality disorder", "psychopathic personality", "psychopathic personality disorder", "psychopathy", "sociopathic personality"], "xref": ["DOID:10939", "ICD10CM:F60.2", "ICD9:301.7", "MEDGEN:1611", "MESH:D000987", "NCIT:C88413", "SCTID:26665006", "UMLS:C0003431", "icd11.foundation:779282819"]}
{"category": ["biolink:Disease"], "description": "A disease involving the tongue.", "id": "MONDO:0001165", "name": "Tongue disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of tongue", "disease or disorder of tongue", "disorder of tongue", "tongue disease", "tongue disease or disorder"], "xref": ["DOID:10944", "ICD9:529.8", "ICD9:529.9", "MEDGEN:52777", "MESH:D014060", "NCIT:C173793", "SCTID:69244009", "UMLS:C0040409", "icd11.foundation:928435705"]}
{"category": ["biolink:Disease"], "description": "Inflammation of renal tissue.", "id": "MONDO:0001166", "name": "Nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of kidney", "kidney inflammation"], "xref": ["DOID:10952", "EFO:1002050", "ICD9:583.7", "ICD9:583.89", "ICD9:583.9", "MEDGEN:14328", "MESH:D009393", "NCIT:C26833", "SCTID:52845002", "UMLS:C0027697"]}
{"category": ["biolink:Disease"], "description": "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.", "id": "MONDO:0001167", "name": "Spastic diplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Little disease", "Little's disease", "diplegic infantile cerebral palsy"], "xref": ["DOID:10965", "ICD9:343.0", "MEDGEN:124371", "MESH:C537945", "NCIT:C34781", "SCTID:281411007", "SCTID:58193001", "UMLS:C0270804", "icd11.foundation:563606390"]}
{"category": ["biolink:Disease"], "description": "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.", "id": "MONDO:0001168", "name": "Spastic hemiplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemiplegic infantile cerebral palsy"], "xref": ["DOID:10967", "ICD10CM:G81.1", "ICD9:342.10", "ICD9:343.1", "MEDGEN:56345", "NCIT:C116905", "SCTID:79633009", "UMLS:C0154694", "icd11.foundation:1030700023"]}
{"category": ["biolink:Disease"], "description": "A spastic cerebral palsy that affects only one limb.", "id": "MONDO:0001169", "name": "Spastic monoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["monoplegic infantile cerebral palsy"], "xref": ["DOID:10968", "ICD9:343.3", "MEDGEN:57593", "UMLS:C0154698"]}
{"category": ["biolink:Disease"], "description": "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.", "id": "MONDO:0001170", "name": "Hemiplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10969", "EFO:0009453", "ICD10WHO:G81", "ICD9:343.4", "MEDGEN:9196", "MESH:D006429", "SCTID:1593000", "UMLS:C0018991", "icd11.foundation:1641958762"]}
{"category": ["biolink:Disease"], "description": "Acute form of salpingo-oophoritis.", "id": "MONDO:0001171", "name": "Acute salpingo-oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute salpingitis and oophoritis", "salpingo-oophoritis, acute"], "xref": ["DOID:10971", "ICD9:614.0", "MEDGEN:510243", "SCTID:266581008", "UMLS:C0156327"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001172", "name": "Salpingo-oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tubo-ovarian inflammatory disease", "tubo ovarian abscess", "tubo-ovarian abscess", "tubo-ovarian abscess (disorder)"], "xref": ["DOID:10972", "ICD9:614.2", "MEDGEN:508106", "NCIT:C171201", "SCTID:46536000", "UMLS:C0036133"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.", "id": "MONDO:0001173", "name": "Acute salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["salpingitis, acute"], "xref": ["DOID:10973", "ICD10CM:N70.01", "MEDGEN:82838", "NCIT:C40120", "SCTID:8912009", "UMLS:C0269038", "icd11.foundation:1286268784"]}
{"category": ["biolink:Disease"], "description": "A disorder of the vasculature of the cornea.", "id": "MONDO:0001174", "name": "Conjunctival vascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conjunctival vascular disorder", "conjunctival vasculature disease", "conjunctival vasculature disease or disorder", "disease of conjunctival vasculature", "disease or disorder of conjunctival vasculature", "disorder of conjunctival vasculature", "vascular abnormalities of conjunctiva"], "xref": ["DOID:10989", "ICD10CM:H11.41", "ICD9:372.74", "MEDGEN:12052", "NCIT:C35116", "SCTID:74100001", "UMLS:C0042370"]}
{"category": ["biolink:Disease"], "description": "A cataract disease in which the cataract contains some transparent protein", "id": "MONDO:0001175", "name": "Immature cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["incipient senile cataract"], "xref": ["DOID:10997", "MEDGEN:755282", "SCTID:446474007", "UMLS:C2960113", "icd11.foundation:1444156961"]}
{"category": ["biolink:Disease"], "description": "A disease involving the lens of camera-type eye.", "id": "MONDO:0001176", "name": "Lens disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lens of camera-type eye", "disease or disorder of lens of camera-type eye", "disorder of lens of camera-type eye", "lens disorder", "lens of camera-type eye disease", "lens of camera-type eye disease or disorder"], "xref": ["DOID:110", "EFO:0009674", "ICD10CM:H25-H28", "ICD9:379.39", "MEDGEN:892382", "MESH:D007905", "NCIT:C26812", "SCTID:10810001", "UMLS:C0549651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001177", "name": "Anorectal stricture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stenosis of rectum and anus"], "xref": ["DOID:11014", "ICD9:569.2", "MEDGEN:57619", "SCTID:197216007", "UMLS:C0156183"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001178", "name": "Pseudopterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11028", "ICD9:372.52", "MEDGEN:509821", "SCTID:66139007", "UMLS:C0155161", "icd11.foundation:1195759310"]}
{"category": ["biolink:Disease"], "description": "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.", "id": "MONDO:0001179", "name": "Pinguecula", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11029", "EFO:1001824", "ICD10CM:H11.15", "ICD9:372.51", "MEDGEN:56273", "MESH:D059407", "SCTID:87614000", "UMLS:C0152255"]}
{"category": ["biolink:Disease"], "description": "Keratopathy that is characterized by the presence of epithelial bullae.", "id": "MONDO:0001180", "name": "Bullous keratopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11031", "ICD10CM:H18.1", "ICD9:371.23", "MEDGEN:57600", "NCIT:C26970", "SCTID:57207003", "UMLS:C0155111", "icd11.foundation:1270454490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001181", "name": "Secondary corneal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11032", "ICD10CM:H18.23", "ICD9:371.22", "MEDGEN:509795", "SCTID:27536004", "UMLS:C0155110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001182", "name": "Idiopathic corneal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11033", "ICD10CM:H18.22", "ICD9:371.21", "MEDGEN:509794", "SCTID:1794009", "UMLS:C0155109"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001183", "name": "Contact lens corneal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11034", "ICD9:371.24", "MEDGEN:633950", "SCTID:49362009", "UMLS:C0474442"]}
{"category": ["biolink:Disease"], "description": "Chronic form of rapidly progressive glomerulonephritis.", "id": "MONDO:0001184", "name": "Chronic rapidly progressive glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis", "rapidly progressive glomerulonephritis, chronic"], "xref": ["DOID:11036", "GARD:0022895", "ICD9:582.4", "MEDGEN:574584", "SCTID:197614002", "UMLS:C0341694"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.", "id": "MONDO:0001185", "name": "Dissociative amnesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["psychogenic amnesia"], "xref": ["DOID:11037", "ICD10CM:F44.0", "ICD9:300.12", "MEDGEN:66743", "NCIT:C94328", "SCTID:84209002", "UMLS:C0236795", "icd11.foundation:626975732"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.", "id": "MONDO:0001186", "name": "Depersonalization disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11038", "ICD9:300.6", "MEDGEN:151919", "NCIT:C94331", "SCTID:70764005", "UMLS:C0683416"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the bladder.", "id": "MONDO:0001187", "name": "Urinary bladder cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder cancer, somatic", "cancer of urinary bladder", "malignant bladder neoplasm", "malignant bladder tumor", "malignant bladder tumour", "malignant neoplasm of bladder", "malignant neoplasm of the bladder", "malignant neoplasm of the urinary bladder", "malignant neoplasm of urinary bladder", "malignant neoplasm, bladder", "malignant neoplasm, urinary bladder", "malignant tumor of bladder", "malignant tumor of the bladder", "malignant tumor of the urinary bladder", "malignant tumor of urinary bladder", "malignant tumor, urinary bladder", "malignant tumour of bladder", "malignant tumour of the bladder", "malignant tumour of the urinary bladder", "malignant tumour of urinary bladder", "malignant urinary bladder neoplasm", "malignant urinary bladder tumor", "malignant urinary bladder tumour", "urinary bladder cancer", "urinary bladder malignant neoplasm", "urinary bladder malignant tumor", "urinary bladder malignant tumour"], "xref": ["DOID:11054", "ICD10CM:C67", "ICD9:188", "ICD9:188.8", "ICD9:188.9", "MEDGEN:14150", "NCIT:C9334", "OMIM:109800", "Orphanet:157980", "SCTID:399326009", "UMLS:C0005684", "icd11.foundation:1244512758"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.", "id": "MONDO:0001188", "name": "Esophagus lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["esophageal lymphoma", "esophagus lymphoma", "lymphoma of esophagus", "lymphoma of oesophagus", "lymphoma of the esophagus", "lymphoma of the oesophagus", "primary esophageal lymphoma"], "xref": ["DOID:1106", "GARD:0022896", "MEDGEN:234231", "NCIT:C5687", "UMLS:C1333459", "icd11.foundation:223819380"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Brucella suis.", "id": "MONDO:0001190", "name": "Brucella suis brucellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Brucella suis caused disease or disorder", "Brucella suis disease or disorder", "Brucella suis infectious disease"], "xref": ["DOID:11076", "GARD:0022897", "MEDGEN:546685", "UMLS:C0275594"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Hirudinea.", "id": "MONDO:0001191", "name": "Hirudiniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hirudinea caused disease or disorder", "Hirudinea disease or disorder", "Hirudinea infectious disease"], "xref": ["DOID:11079", "ICD9:134.2", "MEDGEN:507813", "SCTID:64351000", "UMLS:C0019575", "icd11.foundation:1968026753"]}
{"category": ["biolink:Disease"], "description": "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)", "id": "MONDO:0001192", "name": "Esophageal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal melanoma", "esophagus melanoma", "esophagus melanoma (disease)", "melanoma (disease) of esophagus", "melanoma (disease) of oesophagus", "melanoma of esophagus", "melanoma of oesophagus", "melanoma of the esophagus", "melanoma of the oesophagus", "oesophagus melanoma (disease)"], "xref": ["DOID:1108", "GARD:0027569", "MEDGEN:272590", "NCIT:C5707", "ONCOTREE:ESMM", "UMLS:C1333460", "icd11.foundation:1371529838"]}
{"category": ["biolink:Disease"], "description": "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.", "id": "MONDO:0001195", "name": "Spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["spotted fever", "spotted fever rickettsiae disease", "spotted fever rickettsiosis"], "xref": ["DOID:11104", "EFO:1002047", "GARD:0019828", "ICD10CM:A77", "ICD9:082.0", "ICD9:083.8", "MEDGEN:1826170", "Orphanet:102022", "SCTID:186771002", "UMLS:C5680374", "icd11.foundation:9953620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001196", "name": "Psychologic dyspareunia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dyspareunia, psychogenic"], "xref": ["DOID:11120", "ICD9:302.76", "MEDGEN:509600", "MESH:D004414", "SCTID:41021005", "UMLS:C0154466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001197", "name": "Qualitative platelet defect", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["qualitative platelet defect"], "xref": ["DOID:11125", "GARD:0022898", "ICD9:287.1", "MEDGEN:536418", "SCTID:267532001", "UMLS:C0235604"]}
{"category": ["biolink:Disease"], "description": "An instance of thrombocytopenia that is acquired during the lifetime of the individual.", "id": "MONDO:0001198", "name": "Acquired thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acquired thrombocytopenia", "secondary thrombocytopenia"], "xref": ["DOID:11126", "ICD9:287.4", "MEDGEN:509570", "SCTID:74576004", "UMLS:C0154301", "icd11.foundation:526155201"]}
{"category": ["biolink:Disease"], "description": "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.", "id": "MONDO:0001199", "name": "Dislocation of ear ossicle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dislocation of ear ossicles"], "xref": ["DOID:11129", "ICD9:385.23", "MEDGEN:583120", "SCTID:87040007", "UMLS:C0395896", "icd11.foundation:997760203"]}
{"category": ["biolink:Disease"], "description": "High blood pressure caused by an underlying medical condition.", "id": "MONDO:0001200", "name": "Secondary hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11130", "EFO:1002034", "ICD10WHO:I15", "ICD9:405", "ICD9:405.9", "ICD9:405.99", "MEDGEN:57609", "SCTID:31992008", "UMLS:C0155616", "icd11.foundation:1331849426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001202", "name": "Prostatic cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cyst of prostate"], "xref": ["DOID:11133", "ICD10CM:N42.83", "ICD9:599.89", "ICD9:600.3", "MEDGEN:731233", "SCTID:409658007", "UMLS:C1443972", "icd11.foundation:1716279560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001203", "name": "Prolapse of lacrimal gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dislocation of lacrimal gland"], "xref": ["DOID:11134", "ICD9:375.16", "MEDGEN:509860", "SCTID:84777002", "UMLS:C0155231"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.", "id": "MONDO:0001204", "name": "Esophagus sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal sarcoma", "esophagus sarcoma", "sarcoma of esophagus", "sarcoma of oesophagus", "sarcoma of the esophagus", "sarcoma of the oesophagus", "sarcoma, esophagus", "sarcoma, oesophagus"], "xref": ["DOID:1114", "GARD:0022900", "MEDGEN:234233", "NCIT:C5341", "UMLS:C1333466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001205", "name": "Hypersecretion glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11148", "ICD10CM:H40.82", "ICD9:365.81", "MEDGEN:509744", "SCTID:29369005", "UMLS:C0154968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001206", "name": "Aqueous misdirection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11149", "ICD10CM:H40.83", "ICD9:365.83", "MEDGEN:1843475", "UMLS:C1135189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001207", "name": "Neonatal respiratory failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["respiratory failure of newborn"], "xref": ["DOID:11161", "ICD10CM:P28.5", "ICD9:770.84", "MEDGEN:105483", "SCTID:95619009", "UMLS:C0521648"]}
{"category": ["biolink:Disease"], "description": "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.", "id": "MONDO:0001208", "name": "Acute respiratory failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute respiratory failure", "respiratory failure, acute"], "xref": ["ICD10CM:J96.0", "ICD9:518.81", "MEDGEN:75540", "NCIT:C27043", "SCTID:65710008", "UMLS:C0264490", "icd11.foundation:875272781"]}
{"category": ["biolink:Disease"], "description": "A wart caused by human papillomavirus. It can appear anywhere on the skin.", "id": "MONDO:0001209", "name": "Common wart", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["common wart", "verruca vulgaris"], "xref": ["DOID:11165", "EFO:0009662", "ICD10CM:B07", "ICD9:078.1", "ICD9:078.10", "ICD9:078.19", "MEDGEN:777120", "MESH:D014860", "NCIT:C27087", "SCTID:57019003", "UMLS:C3665596", "icd11.foundation:1074706780"]}
{"category": ["biolink:Disease"], "description": "Abnormal recession of the eyeball within the eye socket.", "id": "MONDO:0001210", "name": "Enophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["enophthalmos", "enophthalmos (disease)"], "xref": ["DOID:11175", "HP:0000490", "ICD10CM:H05.4", "ICD9:376.5", "ICD9:376.50", "MEDGEN:473112", "MESH:D015841", "SCTID:80093006", "UMLS:C0423224", "icd11.foundation:1783631381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001211", "name": "Total internal ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11177", "GARD:0022901", "ICD9:367.52", "MEDGEN:508924", "SCTID:86266009", "UMLS:C0152197"]}
{"category": ["biolink:Disease"], "description": "A otitis media which involves transudation of fluid in the middle ear without pus formation.", "id": "MONDO:0001212", "name": "Non-suppurative otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nonsuppurative otitis media"], "xref": ["DOID:11180", "ICD10CM:H65", "ICD9:381.4", "MEDGEN:543351", "SCTID:275481002", "UMLS:C0271446", "icd11.foundation:800153181"]}
{"category": ["biolink:Disease"], "description": "Chronic form of serous otitis media.", "id": "MONDO:0001213", "name": "Serous glue ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["serous otitis media, chronic"], "xref": ["DOID:11181", "ICD10CM:H65.2", "ICD9:381.1", "ICD9:381.10", "ICD9:381.19", "MEDGEN:509959", "SCTID:81564005", "UMLS:C0155421"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the conjunctiva.", "id": "MONDO:0001214", "name": "Acute conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute conjunctivitis (disease)", "conjunctivitis (disease), acute"], "xref": ["DOID:11184", "ICD9:372.00", "ICD9:372.03", "MEDGEN:57829", "NCIT:C35195", "SCTID:53726008", "UMLS:C0155141"]}
{"category": ["biolink:Disease"], "description": "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.", "id": "MONDO:0001215", "name": "Allescheriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11186", "ICD9:117.6", "MEDGEN:547506", "SCTID:80936003", "UMLS:C0276706"]}
{"category": ["biolink:Disease"], "description": "Deterioration of the normal pulp tissue.", "id": "MONDO:0001216", "name": "Pulp degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11189", "ICD10CM:K04.2", "ICD9:522.2", "MEDGEN:19578", "SCTID:22361007", "UMLS:C0034100", "icd11.foundation:868011012"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis that is characterized by formation of a pseudomembrane.", "id": "MONDO:0001217", "name": "Pseudomembranous conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conjunctivitis with pseudomembrane"], "xref": ["DOID:11190", "ICD10CM:H10.22", "ICD9:372.04", "MEDGEN:102325", "NCIT:C35196", "SCTID:72115001", "UMLS:C0155144", "icd11.foundation:1606516539"]}
{"category": ["biolink:Disease"], "description": "An upper respiratory tract disease which involves inflammation of both larynx and pharynx.", "id": "MONDO:0001218", "name": "Acute laryngopharyngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11195", "ICD10CM:J06.0", "ICD9:465.0", "MEDGEN:510095", "SCTID:55355000", "UMLS:C0155817", "icd11.foundation:1528782604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001219", "name": "Serous conjunctivitis except viral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["serous conjunctivitis, except viral"], "xref": ["DOID:11197", "ICD10CM:H10.23", "ICD9:372.01", "MEDGEN:509805", "SCTID:9824006", "UMLS:C0155142", "icd11.foundation:982168239"]}
{"category": ["biolink:Disease"], "description": "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.", "id": "MONDO:0001220", "name": "Hypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:11199", "EFO:0009451", "GARD:0006733", "ICD10CM:E20", "ICD10WHO:E20", "ICD9:252.1", "MEDGEN:6985", "MESH:D007011", "NANDO:1200775", "NANDO:2100124", "NANDO:2200345", "NCIT:C78350", "SCTID:36976004", "UMLS:C0020626", "icd11.foundation:1708733050"]}
{"category": ["biolink:Disease"], "description": "Abnormally dilated veins of the esophagus.", "id": "MONDO:0001221", "name": "Esophageal varices", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["esophageal varices", "esophageal varix", "esophagus varicose disease", "oesophagus varicose disease", "varicose disease of esophagus", "varicose disease of oesophagus"], "xref": ["DOID:112", "EFO:0009545", "ICD10CM:I85", "ICD10CM:I85.0", "ICD9:456.2", "ICD9:456.20", "MEDGEN:5027", "MESH:D004932", "NCIT:C53506", "SCTID:28670008", "UMLS:C0014867"]}
{"category": ["biolink:Disease"], "description": "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.", "id": "MONDO:0001222", "name": "Congenital t-cell immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital T-cell immunodeficiency"], "xref": ["DOID:11200", "GARD:0027570", "MEDGEN:232099", "NCIT:C27872", "UMLS:C1333147"]}
{"category": ["biolink:Disease"], "description": "A disease involving the parathyroid gland.", "id": "MONDO:0001223", "name": "Parathyroid gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of parathyroid gland", "disease or disorder of parathyroid gland", "disorder of parathyroid gland", "parathyroid disease", "parathyroid gland disease", "parathyroid gland disease or disorder", "parathyroid gland diseases", "parathyroid gland disorder", "parathyroid gland disorders"], "xref": ["DOID:11201", "EFO:0005754", "ICD9:252", "ICD9:252.8", "ICD9:252.9", "MEDGEN:893009", "MESH:D010279", "NCIT:C26844", "SCTID:73132005", "UMLS:C4025822", "icd11.foundation:962023213"]}
{"category": ["biolink:Disease"], "description": "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.", "id": "MONDO:0001224", "name": "Angelucci syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Angelucci's syndrome", "acute atopic conjunctivitis"], "xref": ["DOID:11203", "ICD10CM:H10.1", "ICD9:372.05", "MEDGEN:1316", "NCIT:C34353", "SCTID:67678004", "UMLS:C0001309", "icd11.foundation:1044658726"]}
{"category": ["biolink:Disease"], "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "id": "MONDO:0001225", "name": "Opioid abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11206", "ICD10CM:F11.1", "ICD9:305.5", "MEDGEN:508001", "SCTID:5602001", "UMLS:C0029095", "icd11.foundation:912365674"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.", "id": "MONDO:0001226", "name": "Acute contagious conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conjunctivitis infective", "pinkeye"], "xref": ["DOID:11213", "ICD9:041.89", "MEDGEN:272038", "NCIT:C35704", "SCTID:399219006", "UMLS:C1313983"]}
{"category": ["biolink:Disease"], "description": "Chronic form of tympanitis.", "id": "MONDO:0001227", "name": "Chronic tympanitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tympanitis, chronic"], "xref": ["DOID:11217", "ICD10CM:H73.1", "ICD9:384.1", "MEDGEN:583089", "SCTID:89723004", "UMLS:C0395849", "icd11.foundation:1604276412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001228", "name": "Conjunctival folliculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute follicular conjunctivitis"], "xref": ["DOID:11219", "ICD10CM:H10.01", "ICD9:372.02", "MEDGEN:509806", "SCTID:41308008", "UMLS:C0155143"]}
{"category": ["biolink:Disease"], "description": "A diverticulitis that involves the small intestine.", "id": "MONDO:0001229", "name": "Small intestine diverticulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diverticulitis of small intestine", "diverticulosis of small intestine with haemorrhage", "small intestine diverticulitis"], "xref": ["DOID:11223", "ICD9:562.01", "ICD9:562.02", "MEDGEN:540732", "SCTID:56165008", "UMLS:C0267502", "icd11.foundation:1351188281"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001230", "name": "Acute orbital inflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute inflammation of orbit"], "xref": ["DOID:11230", "ICD10CM:H05.0", "ICD9:376.0", "ICD9:376.00", "MEDGEN:509876", "SCTID:20551005", "UMLS:C0155256", "icd11.foundation:1830014336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001231", "name": "Orbital periostitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11231", "ICD9:376.02", "MEDGEN:509877", "SCTID:65974003", "UMLS:C0155257", "icd11.foundation:1589056590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001232", "name": "Orbital osteomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["orbital osteomyelitis"], "xref": ["DOID:11232", "ICD9:376.03", "MEDGEN:509878", "SCTID:65875003", "UMLS:C0155258", "icd11.foundation:1006426584"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001233", "name": "Orbital tenonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11233", "ICD9:376.04", "MEDGEN:509879", "SCTID:8976003", "UMLS:C0155259"]}
{"category": ["biolink:Disease"], "description": "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.", "id": "MONDO:0001234", "name": "Adhesive otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adhesive middle ear disease", "adhesive otitis media", "chronic adhesive otitis media"], "xref": ["DOID:11235", "ICD10CM:H74.1", "ICD9:385.1", "ICD9:385.10", "MEDGEN:509984", "SCTID:7699004", "UMLS:C0155478", "icd11.foundation:1692803582"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the vermiform appendix", "id": "MONDO:0001235", "name": "Appendix cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of vermiform appendix", "malignant appendix neoplasm", "malignant appendix tumor", "malignant appendix tumour", "malignant neoplasm of appendix", "malignant neoplasm of appendix vermiformis", "malignant neoplasm of the appendix", "malignant neoplasm of vermiform appendix", "malignant tumor of appendix", "malignant tumor of the appendix", "malignant tumour of appendix", "malignant tumour of the appendix", "malignant vermiform appendix neoplasm", "vermiform appendix cancer"], "xref": ["DOID:11239", "GARD:0027339", "ICD10CM:C18.1", "ICD9:153.5", "MEDGEN:141676", "NCIT:C9333", "SCTID:363411007", "UMLS:C0496779", "icd11.foundation:1892026854"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the appendix.", "id": "MONDO:0001236", "name": "Appendiceal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["appendix neoplasm", "appendix tumor", "appendix tumour", "neoplasm of appendix", "neoplasm of the appendix", "neoplasm of vermiform appendix", "tumor of appendix", "tumor of the appendix", "tumor of vermiform appendix", "tumour of appendix", "tumour of the appendix", "tumour of vermiform appendix", "vermiform appendix neoplasm", "vermiform appendix neoplasm (disease)", "vermiform appendix tumor", "vermiform appendix tumour"], "xref": ["DOID:11240", "EFO:0003880", "GARD:0027340", "MEDGEN:1629", "MESH:D001063", "NCIT:C4434", "SCTID:126846004", "UMLS:C0003614"]}
{"category": ["biolink:Disease"], "description": "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.", "id": "MONDO:0001237", "name": "Appendix lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["appendiceal lymphoma", "appendix lymphoma", "lymphoma of appendix", "lymphoma of the appendix", "lymphoma of vermiform appendix", "primary appendix lymphoma", "vermiform appendix lymphoma"], "xref": ["DOID:11241", "GARD:0022902", "MEDGEN:231078", "NCIT:C5513", "UMLS:C1332328", "icd11.foundation:1666837877"]}
{"category": ["biolink:Disease"], "description": "A condition in which the red blood cell level is greater than established reference ranges in a newborn.", "id": "MONDO:0001238", "name": "Polycythemia neonatorum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neonatal polycythemia", "polycythemia neonatorum", "polycythemia of the newborn"], "xref": ["DOID:11242", "GARD:0022903", "ICD10CM:P61.1", "ICD9:776.4", "MEDGEN:78794", "NCIT:C27069", "SCTID:32984002", "UMLS:C0272153"]}
{"category": ["biolink:Disease"], "description": "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.", "id": "MONDO:0001239", "name": "Anemia of prematurity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AOP"], "xref": ["DOID:11243", "GARD:0022904", "ICD10CM:P61.2", "ICD9:776.6", "MEDGEN:472907", "NCIT:C97167", "SCTID:47100003", "UMLS:C0158996"]}
{"category": ["biolink:Disease"], "description": "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.", "id": "MONDO:0001240", "name": "Neonatal anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anemia neonatal"], "xref": ["DOID:11244", "MEDGEN:1530", "MESH:D000751", "SCTID:234350007", "UMLS:C0002891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001241", "name": "Transient neonatal neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11245", "GARD:0022906", "ICD10CM:P61.5", "ICD9:776.7", "MEDGEN:510688", "SCTID:55444004", "UMLS:C0158997"]}
{"category": ["biolink:Disease"], "description": "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.", "id": "MONDO:0001242", "name": "Disseminated intravascular coagulation in newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disseminated intravascular coagulation in newborn", "neonatal disseminated intravascular coagulation"], "xref": ["DOID:11246", "GARD:0022907", "ICD9:776.2", "MEDGEN:510687", "NCIT:C111856", "SCTID:34417008", "UMLS:C0158992"]}
{"category": ["biolink:Disease"], "description": "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.", "id": "MONDO:0001243", "name": "Disseminated intravascular coagulation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DIC", "DIC, disseminated intravascular coagulation", "coagulation (DIC), disseminated intravascular", "consumptive coagulopathy", "defibrination syndrome", "diffuse or disseminated intravascular coagulation", "disseminated intravascular coagulation", "disseminated intravascular coagulation (DIC)", "intravascular coagulation (DIC), disseminated"], "xref": ["DOID:11247", "GARD:0022908", "ICD10CM:D65", "ICD9:286.6", "MEDGEN:41620", "MESH:D004211", "NANDO:2200639", "NCIT:C2992", "SCTID:67406007", "UMLS:C0012739", "icd11.foundation:1622289887"]}
{"category": ["biolink:Disease"], "description": "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.", "id": "MONDO:0001244", "name": "Vitamin k deficiency hemorrhagic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deficiency of vitamin K", "vitamin K deficiency", "vitamin K deficiency coagulation disorder"], "xref": ["DOID:11249", "ICD10CM:E56.1", "ICD9:269.0", "MEDGEN:543992", "MESH:D014813", "NCIT:C99108", "SCTID:52675005", "UMLS:C0272348"]}
{"category": ["biolink:Disease"], "description": "Anemia in which the red blood cell volume is decreased.", "id": "MONDO:0001245", "name": "Microcytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11252", "HP:0001935", "MEDGEN:1673948", "NCIT:C35141", "SCTID:234349007", "UMLS:C5194182", "icd11.foundation:1380406043"]}
{"category": ["biolink:Disease"], "description": "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.", "id": "MONDO:0001246", "name": "Typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["typhus fever", "typhus-group rickettsiae disease", "typhus-group rickettsiosis"], "xref": ["DOID:11256", "EFO:0009117", "GARD:0019829", "ICD10CM:A75", "ICD9:080", "ICD9:081.0", "ICD9:081.9", "MEDGEN:11976", "Orphanet:102023", "SCTID:240613006", "UMLS:C0041471", "icd11.foundation:292650041"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.", "id": "MONDO:0001247", "name": "Social phobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["social anxiety disorder"], "xref": ["DOID:11257", "EFO:1001917", "ICD10CM:F40.1", "ICD9:300.23", "MEDGEN:19254", "MESH:D000072861", "NCIT:C34927", "SCTID:25501002", "UMLS:C0031572", "icd11.foundation:2062286624"]}
{"category": ["biolink:Disease"], "description": "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.", "id": "MONDO:0001249", "name": "Trachoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11265", "ICD10CM:A71", "ICD10WHO:A71", "ICD9:076", "ICD9:076.0", "ICD9:076.1", "ICD9:076.9", "MEDGEN:52801", "MESH:D014141", "SCTID:2576002", "UMLS:C0040592", "icd11.foundation:372424530"]}
{"category": ["biolink:Disease"], "description": "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.", "id": "MONDO:0001250", "name": "Keratomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11267", "ICD10CM:H18.44", "ICD9:371.45", "MEDGEN:57777", "MESH:C536156", "SCTID:85149007", "UMLS:C0152455", "icd11.foundation:497316188"]}
{"category": ["biolink:Disease"], "description": "Chronic form of periapical periodontitis.", "id": "MONDO:0001251", "name": "Chronic apical periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic periapical periodontitis", "periapical periodontitis, chronic"], "xref": ["DOID:11269", "ICD10CM:K04.5", "ICD9:522.6", "MEDGEN:581135", "SCTID:718052004", "UMLS:C0392492", "icd11.foundation:1079140240"]}
{"category": ["biolink:Disease"], "description": "Nodular enlargement of the thyroid gland associated with hyperthyroidism.", "id": "MONDO:0001252", "name": "Toxic multinodular goitre", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MNG", "Plummer disease", "Plummer's disease", "TMNG", "Toxic goiter", "Toxic goitre", "toxic nodular goiter", "toxic nodular goitre"], "xref": ["DOID:11277", "EFO:0009191", "ICD9:242.3", "ICD9:242.30", "MEDGEN:137963", "NCIT:C35171", "SCTID:57777000", "UMLS:C0342127", "icd11.foundation:999910988"]}
{"category": ["biolink:Disease"], "description": "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.", "id": "MONDO:0001255", "name": "Ventilation pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["humidifier lung", "humidifiers lung", "ventilation systems lung"], "xref": ["DOID:11289", "GARD:0022909", "ICD9:495.7", "MEDGEN:510127", "SCTID:195990006", "UMLS:C0155891", "icd11.foundation:1414909625"]}
{"category": ["biolink:Disease"], "description": "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.", "id": "MONDO:0001256", "name": "Arteriovenous hemangioma/malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arteriovenous angioma", "arteriovenous hemangioma", "arteriovenous hemangioma/malformation", "racemose aneurysm (morphologic abnormality)", "racemose hemangioma (morphologic abnormality)"], "xref": ["CSP:0571-2717", "DOID:11294", "HP:0100026", "ICDO:9123/0", "MEDGEN:137780", "MESH:D001165", "NCIT:C2882", "SCTID:233982006", "UMLS:C0334533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001257", "name": "Retinal microaneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11295", "ICD9:362.14", "MEDGEN:472899", "SCTID:34037000", "UMLS:C0154834"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001258", "name": "Vertebral artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["occlusion and stenosis of vertebral artery"], "xref": ["DOID:11299", "ICD10CM:I65.0", "ICD9:433.2", "ICD9:433.20", "ICD9:433.21", "MEDGEN:539080", "SCTID:195182007", "UMLS:C0265104"]}
{"category": ["biolink:Disease"], "description": "Ischemic necrosis of the pituitary gland.", "id": "MONDO:0001259", "name": "Pituitary gland infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pituitary gland infarction", "pituitary infarction"], "xref": ["DOID:1130", "ICD9:253.8", "MEDGEN:137969", "NCIT:C27117", "SCTID:95830009", "UMLS:C0342405", "icd11.foundation:765046957"]}
{"category": ["biolink:Disease"], "description": "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.", "id": "MONDO:0001260", "name": "Cercarial dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cutaneous schistosomiasis", "duck Itch", "lake Itch"], "xref": ["DOID:11302", "GARD:0009747", "ICD10CM:B65.3", "ICD9:120.3", "ICD9:709.8", "MEDGEN:108186", "NCIT:C128349", "SCTID:238534006", "UMLS:C0546996", "icd11.foundation:648519873"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)", "id": "MONDO:0001261", "name": "Mobitz type ii atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AV block second degree Mobitz type II", "AV block second degree Möbitz type II", "Mobitz (type) II atrioventricular block", "Mobitz II", "Mobitz type II second degree AV block", "Möbitz II", "Möbitz type II second degree AV block", "second degree atrioventricular block Mobitz type II", "second degree atrioventricular block Möbitz type II", "type 2 2nd degree AV block", "type 2 second degree AV block", "type II second degree AV block", "type II second degree atrioventricular block"], "xref": ["DOID:11312", "GARD:0022910", "ICD9:426.12", "MEDGEN:102340", "NANDO:2100044", "NANDO:2200213", "NCIT:C62018", "SCTID:28189009", "UMLS:C0155700"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.", "id": "MONDO:0001262", "name": "African histoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["African histoplasmosis", "Histoplasma capsulatum var. duboisii caused disease or disorder", "Histoplasma capsulatum var. duboisii disease or disorder", "Histoplasma capsulatum var. duboisii infectious disease"], "xref": ["DOID:11315", "GARD:0022911", "ICD10CM:B39.5", "ICD9:115.10", "MEDGEN:526120", "SCTID:78511005", "UMLS:C0220977", "icd11.foundation:997943937"]}
{"category": ["biolink:Disease"], "description": "An retinitis caused by infection with Histoplasma capsulatum.", "id": "MONDO:0001263", "name": "Histoplasmosis retinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Histoplasma capsulatum caused retinitis", "Histoplasma capsulatum retinitis"], "xref": ["DOID:11316", "GARD:0022912", "ICD9:115.92", "MEDGEN:509240", "SCTID:187058000", "UMLS:C0153278"]}
{"category": ["biolink:Disease"], "description": "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.", "id": "MONDO:0001265", "name": "Schizophreniform disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11328", "ICD10CM:F20.81", "ICD9:295.4", "MEDGEN:11336", "NCIT:C94376", "SCTID:88975006", "UMLS:C0036358"]}
{"category": ["biolink:Disease"], "description": "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.", "id": "MONDO:0001266", "name": "Erysipelas", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11330", "EFO:1001462", "HP:0001055", "ICD10CM:A46", "ICD10WHO:A46", "ICD9:035", "MEDGEN:41855", "MESH:D004886", "SCTID:44653001", "UMLS:C0014733", "icd11.foundation:1651247891"]}
{"category": ["biolink:Disease"], "description": "A loss of gum tissue resulting in an exposure of the roots of the teeth.", "id": "MONDO:0001268", "name": "Gingival recession", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gingival recession", "gingival recession, localised", "gingival recession, localized", "gingival recession, unspecified", "localised gingival recession"], "xref": ["DOID:1134", "ICD10CM:K06.0", "ICD9:523.2", "ICD9:523.20", "ICD9:523.21", "ICD9:523.22", "ICD9:523.23", "ICD9:523.24", "MEDGEN:6607", "MESH:D005889", "SCTID:59898000", "UMLS:C0017572", "icd11.foundation:1059404242"]}
{"category": ["biolink:Disease"], "description": "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.", "id": "MONDO:0001269", "name": "Scleral disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of sclera", "disease or disorder of sclera", "disorder of sclera", "sclera disease", "sclera disease or disorder", "sclera disorder", "scleral disorder"], "xref": ["DOID:11343", "ICD9:379.19", "MEDGEN:11345", "MESH:D015422", "NCIT:C79717", "SCTID:33064008", "UMLS:C0036412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001270", "name": "Stone in bladder diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["calculus in diverticulum of bladder"], "xref": ["DOID:11354", "ICD9:594.0", "MEDGEN:510220", "SCTID:18109005", "UMLS:C0156265", "icd11.foundation:422370427"]}
{"category": ["biolink:Disease"], "description": "A partial dislocation of the lens of the eye.", "id": "MONDO:0001271", "name": "Lens subluxation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lens subluxation", "lens subluxation (disease)", "subluxation of lens"], "xref": ["DOID:11364", "HP:0001132", "ICD10CM:H27.11", "ICD9:379.32", "MEDGEN:9718", "MESH:D007906", "NCIT:C34772", "SCTID:65814009", "UMLS:C0023316", "icd11.foundation:254522648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001272", "name": "Functional diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11371", "ICD10CM:K59.1", "ICD9:564.5", "MEDGEN:510199", "SCTID:47812002", "UMLS:C0156173"]}
{"category": ["biolink:Disease"], "description": "An abnormal dilation of the colon not due to obstruction.", "id": "MONDO:0001273", "name": "Megacolon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11372", "ICD9:564.7", "MEDGEN:6285", "MESH:D008531", "NCIT:C34810", "SCTID:33995003", "UMLS:C0025160", "icd11.foundation:1742998538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001274", "name": "Anal spasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11374", "ICD10CM:K59.4", "ICD9:564.6", "MEDGEN:508910", "SCTID:17440005", "UMLS:C0152167", "icd11.foundation:647005938"]}
{"category": ["biolink:Disease"], "description": "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.", "id": "MONDO:0001275", "name": "Spinal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["meningioma (disease) of spinal cord", "meningioma of spinal cord", "meningioma of the spinal cord", "spinal cord meningioma", "spinal cord meningioma (disease)"], "xref": ["DOID:1138", "GARD:0010264", "MEDGEN:87576", "NCIT:C6935", "SCTID:189167009", "UMLS:C0347515"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).", "id": "MONDO:0001276", "name": "Expressive language disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["expressive language disorder"], "xref": ["DOID:11385", "ICD10CM:F80.1", "ICD9:315.31", "MEDGEN:452300", "NCIT:C92562", "SCTID:229733002", "UMLS:C0236826"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.", "id": "MONDO:0001277", "name": "Cerebral arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral artery inflammation", "inflammation of cerebral artery"], "xref": ["DOID:11390", "GARD:0022913", "ICD9:437.4", "MEDGEN:507535", "SCTID:28366008", "UMLS:C0007773"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the spinal meninges.", "id": "MONDO:0001279", "name": "Intraspinal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intraspinal meningioma", "meningioma of spinal canal and spinal cord", "meningioma of the spinal canal and spinal cord"], "xref": ["DOID:1140", "GARD:0022914", "NCIT:C5134"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process that affects the choroid.", "id": "MONDO:0001280", "name": "Choroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Choroiditides", "choroiditis"], "xref": ["DOID:11406", "GARD:0004457", "HP:0012123", "MEDGEN:40282", "MESH:D002833", "MedDRA:10036370", "NCIT:C35111", "NORD:1601", "Orphanet:280892", "SCTID:16553002", "UMLS:C0008526", "icd11.foundation:1884626736"]}
{"category": ["biolink:Disease"], "description": "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.", "id": "MONDO:0001281", "name": "Alternating exotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1142", "ICD10CM:H50.15", "ICD9:378.15", "MEDGEN:101825", "SCTID:37214009", "UMLS:C0152207", "icd11.foundation:1611093587"]}
{"category": ["biolink:Disease"], "description": "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.", "id": "MONDO:0001282", "name": "Fallopian tube endometriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometriosis (disease) of fallopian tube", "endometriosis of fallopian tube", "fallopian tube endometriosis", "fallopian tube endometriosis (disease)"], "xref": ["DOID:11424", "ICD10CM:N80.2", "ICD9:617.2", "MEDGEN:41788", "NCIT:C26763", "SCTID:22611009", "UMLS:C0014177", "icd11.foundation:1506672895"]}
{"category": ["biolink:Disease"], "description": "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.", "id": "MONDO:0001283", "name": "Endosalpingiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11427", "MEDGEN:78704", "NCIT:C40121", "SCTID:55850004", "UMLS:C0269106"]}
{"category": ["biolink:Disease"], "description": "Endometriosis that affects the intesines.", "id": "MONDO:0001284", "name": "Endometriosis of intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometriosis (disease) of intestine", "intestine endometriosis (disease)"], "xref": ["DOID:11428", "ICD10CM:N80.5", "ICD9:617.5", "MEDGEN:510251", "SCTID:5562006", "UMLS:C0156347", "icd11.foundation:706777963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001285", "name": "Endometriosis of pelvic peritoneum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11429", "ICD10CM:N80.3", "ICD9:617.3", "MEDGEN:510249", "SCTID:198251001", "UMLS:C0156345", "icd11.foundation:1015401835"]}
{"category": ["biolink:Disease"], "description": "A form of strabismus in which the eyes are deviated laterally.", "id": "MONDO:0001286", "name": "Exotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["divergent concomitant strabismus", "divergent strabismus"], "xref": ["DOID:1143", "ICD10CM:H50.1", "ICD9:378.1", "ICD9:378.10", "MEDGEN:4613", "MESH:D005099", "NCIT:C34601", "SCTID:399252000", "UMLS:C0015310", "icd11.foundation:2116859618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001287", "name": "Endometriosis in cutaneous scar", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometriosis in scar of skin"], "xref": ["DOID:11430", "ICD10CM:N80.6", "ICD9:617.6", "MEDGEN:510252", "SCTID:53913001", "UMLS:C0156348", "icd11.foundation:1586348950"]}
{"category": ["biolink:Disease"], "description": "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.", "id": "MONDO:0001288", "name": "Endometriosis of rectovaginal septum and vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vaginal endometriosis"], "xref": ["DOID:11431", "ICD10CM:N80.4", "ICD9:617.4", "MEDGEN:510250", "NCIT:C128064", "SCTID:198253003", "UMLS:C0156346"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the small vessels of the skin that is mediated by the immune system.", "id": "MONDO:0001290", "name": "Allergic cutaneous vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["allergic cutaneous angiitis"], "xref": ["DOID:11450", "GARD:0022915", "MEDGEN:57718", "NCIT:C35119", "UMLS:C0151436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001291", "name": "Brain compression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11457", "ICD10CM:G93.5", "ICD9:348.4", "MEDGEN:507585", "SCTID:46963008", "UMLS:C0009592"]}
{"category": ["biolink:Disease"], "description": "A disease involving the autonomic nervous system.", "id": "MONDO:0001292", "name": "Autonomic nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autonomic nervous disease", "autonomic nervous system disease", "autonomic nervous system disease or disorder", "disease of autonomic nervous system", "disease or disorder of autonomic nervous system", "disorder of autonomic nervous system", "disorder of peripheral autonomic nervous system", "disorder of the autonomic nervous system"], "xref": ["DOID:11465", "EFO:0009532", "ICD9:337.1", "ICD9:337.9", "MEDGEN:218837", "MESH:D001342", "SCTID:128123007", "SCTID:15241006", "UMLS:C1145628", "icd11.foundation:1397803237"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.", "id": "MONDO:0001293", "name": "Subglottis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of subglottis", "malignant neoplasm of subglottis", "malignant neoplasm of the subglottis", "malignant subglottic neoplasm", "malignant subglottic tumor", "malignant subglottic tumour", "malignant subglottis neoplasm", "malignant subglottis tumor", "malignant subglottis tumour", "malignant tumor of subglottis", "malignant tumor of the subglottis", "malignant tumour of subglottis", "malignant tumour of the subglottis", "subglottis cancer"], "xref": ["DOID:11472", "GARD:0027571", "ICD10CM:C32.2", "ICD9:161.2", "MEDGEN:57562", "NCIT:C3546", "SCTID:363430007", "UMLS:C0153485"]}
{"category": ["biolink:Disease"], "description": "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.", "id": "MONDO:0001294", "name": "Horner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Horner syndrome", "Horner's syndrome"], "xref": ["DOID:11486", "ICD10CM:G90.2", "ICD9:337.09", "MEDGEN:5616", "MESH:D006732", "NCIT:C28155", "SCTID:192915005", "UMLS:C0019937", "icd11.foundation:178756462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001295", "name": "Idiopathic peripheral autonomic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11488", "ICD10CM:G90.0", "ICD9:337.0", "ICD9:337.00", "MEDGEN:509630", "SCTID:86489003", "UMLS:C0154690", "icd11.foundation:1422269907"]}
{"category": ["biolink:Disease"], "description": "An instance of night blindness that is acquired during the lifetime of the individual.", "id": "MONDO:0001296", "name": "Acquired night blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired night blindness"], "xref": ["DOID:11491", "ICD10CM:H53.62", "ICD9:368.62", "MEDGEN:508926", "SCTID:53808001", "UMLS:C0152202", "icd11.foundation:1609326234"]}
{"category": ["biolink:Disease"], "description": "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.", "id": "MONDO:0001297", "name": "Cardiac tamponade", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pericardial tamponade"], "xref": ["DOID:115", "EFO:1001285", "ICD10CM:I31.4", "ICD9:423.3", "MEDGEN:40108", "MESH:D002305", "NCIT:C50481", "SCTID:35304003", "UMLS:C0007177", "icd11.foundation:216782575"]}
{"category": ["biolink:Disease"], "description": "Mitral valve insufficiency that is present at birth.", "id": "MONDO:0001298", "name": "Congenital mitral valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital insufficiency of mitral valve", "congenital mitral insufficiency"], "xref": ["ICD10CM:Q23.3", "ICD9:396.3", "ICD9:746.6", "MEDGEN:510600", "NANDO:2200303", "NCIT:C197881", "SCTID:29928006", "UMLS:C0158619", "icd11.foundation:403917903"]}
{"category": ["biolink:Disease"], "description": "Autonomic neuropathy that is caused by diabetes mellitus.", "id": "MONDO:0001299", "name": "Diabetic autonomic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11503", "ICD9:337.1", "MEDGEN:82887", "NCIT:C27068", "SCTID:50620007", "UMLS:C0271686", "icd11.foundation:1129679469"]}
{"category": ["biolink:Disease"], "description": "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.", "id": "MONDO:0001300", "name": "Autonomic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autonomic nervous system peripheral neuropathy", "autonomic peripheral neuropathy", "peripheral neuropathy of autonomic nervous system"], "xref": ["CSP:2042-2001", "CSP:2049-9000", "DOID:0060054", "DOID:11504", "MEDGEN:82621", "NCIT:C27033", "SCTID:277879009", "UMLS:C0259749"]}
{"category": ["biolink:Disease"], "description": "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.", "id": "MONDO:0001301", "name": "Rumination disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rumination"], "xref": ["DOID:11507", "ICD9:307.53", "MEDGEN:102311", "MESH:D019959", "NCIT:C92567", "SCTID:192014006", "UMLS:C0154575", "icd11.foundation:879747857"]}
{"category": ["biolink:Disease"], "description": "Abnormal enlargement of the heart resulting from long-standing hypertension.", "id": "MONDO:0001302", "name": "Hypertensive heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypertensive heart disease"], "xref": ["DOID:11516", "ICD10CM:I11", "ICD10WHO:I11", "ICD9:402", "ICD9:402.9", "MEDGEN:508889", "NCIT:C4907", "SCTID:64715009", "UMLS:C0152105", "icd11.foundation:1210166201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001303", "name": "Abnormal pupillary function", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abnormal pupillary function", "abnormal pupillary function (disease)"], "xref": ["DOID:11518", "HP:0007686", "ICD9:379.40", "ICD9:379.49", "MEDGEN:214629", "SCTID:72124005", "UMLS:C0917967", "icd11.foundation:538839606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001304", "name": "Benign hypertensive renal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertensive renal disease, benign", "hypertensive renal disease, benign, without mention of renal failure"], "xref": ["DOID:11520", "ICD9:403.1", "ICD9:403.10", "MEDGEN:510035", "SCTID:193003", "UMLS:C0155596"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the laryngeal airway.", "id": "MONDO:0001305", "name": "Laryngostenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stenosis of larynx"], "xref": ["DOID:11527", "HP:0001602", "ICD10CM:J38.6", "ICD9:478.74", "MEDGEN:7274", "MESH:D007829", "SCTID:75547007", "UMLS:C0023075", "icd11.foundation:803766116"]}
{"category": ["biolink:Disease"], "description": "An abscess of the cornea.", "id": "MONDO:0001307", "name": "Corneal abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11543", "GARD:0022919", "ICD10CM:H16.31", "ICD9:370.55", "MEDGEN:56351", "NCIT:C26969", "SCTID:64366002", "UMLS:C0155091", "icd11.foundation:485862779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001308", "name": "Corneal deposit", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11547", "ICD10CM:H18.0", "ICD9:371.10", "MEDGEN:511537", "SCTID:74460005", "UMLS:C0162281", "icd11.foundation:1760427912"]}
{"category": ["biolink:Disease"], "description": "Paralysis of the oculomotor nerve.", "id": "MONDO:0001309", "name": "Oculomotor nerve paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["IIIrd nerve paralysis", "cranial nerve palsy of oculomotor nerve", "oculomotor nerve cranial nerve palsy", "oculomotor nerve paralysis", "oculomotor palsy"], "xref": ["DOID:11550", "GARD:0019544", "MEDGEN:14459", "NCIT:C27597", "Orphanet:98685", "SCTID:388980004", "UMLS:C0028866"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001310", "name": "Bowman's membrane folds or rupture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["folds and/or rupture of bowman's membrane"], "xref": ["DOID:11552", "ICD9:371.31", "MEDGEN:509796", "SCTID:45382000", "UMLS:C0155115"]}
{"category": ["biolink:Disease"], "description": "A acute transudative otitis media with thin, watery and sterile effusion.", "id": "MONDO:0001312", "name": "Acute serous otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11557", "ICD10CM:H65.0", "ICD9:381.01", "MEDGEN:509955", "SCTID:194240006", "UMLS:C0155415"]}
{"category": ["biolink:Disease"], "description": "A acute serous otitis media caused by an allergen.", "id": "MONDO:0001313", "name": "Acute allergic serous otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11558", "ICD9:381.04", "MEDGEN:509956", "SCTID:59275002", "UMLS:C0155418"]}
{"category": ["biolink:Disease"], "description": "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.", "id": "MONDO:0001314", "name": "Chondrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calcium pyrophosphate deposition disease", "pseudogout"], "xref": ["DOID:1156", "HP:0000934", "ICD9:275.49", "ICD9:712.1", "MEDGEN:154303", "MESH:D002805", "NCIT:C34955", "SCTID:239832006", "UMLS:C0553730", "icd11.foundation:2041797033"]}
{"category": ["biolink:Disease"], "description": "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.", "id": "MONDO:0001315", "name": "Neurocirculatory asthenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiovascular malfunction arising from mental factors"], "xref": ["DOID:11569", "ICD9:306.2", "MEDGEN:283928", "MESH:D009449", "SCTID:191962000", "UMLS:C1535893"]}
{"category": ["biolink:Disease"], "description": "An infectious meningitis caused by infection with Streptococcus.", "id": "MONDO:0001316", "name": "Streptococcal meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Streptococcus caused infectious meningitis", "Streptococcus infectious meningitis"], "xref": ["DOID:11574", "GARD:0022920", "ICD10CM:G00.2", "ICD9:320.2", "MEDGEN:509616", "SCTID:4510004", "UMLS:C0154639", "icd11.foundation:705971711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001317", "name": "Phlyctenulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Phlyctenular keratoconjunctivitis"], "xref": ["DOID:11581", "ICD10CM:H16.25", "ICD9:370.31", "MEDGEN:509775", "SCTID:67895005", "UMLS:C0155080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001318", "name": "Functional gastric disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of function of stomach", "disorder of gastric function", "disorder of stomach function", "functional gastric disorder"], "xref": ["DOID:1159", "ICD9:306.4", "ICD9:536.8", "ICD9:536.9", "MEDGEN:510176", "SCTID:150541000119104", "SCTID:386211005", "UMLS:C0156084", "icd11.foundation:2010042799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001319", "name": "Bladder lateral wall cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant neoplasm of lateral wall of urinary bladder"], "xref": ["DOID:11593", "ICD9:188.2", "MEDGEN:105417", "SCTID:188241004", "UMLS:C0496828"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001320", "name": "Ring staphyloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11594", "ICD10CM:H15.85", "ICD9:379.15", "MEDGEN:509937", "SCTID:5299007", "UMLS:C0155363", "icd11.foundation:7248227"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the pericardium.", "id": "MONDO:0001322", "name": "Pericardium cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of pericardium", "malignant neoplasm of pericardium", "malignant neoplasm of the pericardium", "malignant pericardial neoplasm", "malignant pericardial tumor", "malignant pericardial tumour", "malignant pericardium neoplasm", "malignant tumor of pericardium", "malignant tumor of the pericardium", "malignant tumour of pericardium", "malignant tumour of the pericardium", "pericardium cancer"], "xref": ["DOID:116", "GARD:0027572", "MEDGEN:87561", "NCIT:C4567", "UMLS:C0346609"]}
{"category": ["biolink:Disease"], "description": "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.", "id": "MONDO:0001323", "name": "Infant gynecomastia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast engorgement in newborn"], "xref": ["DOID:11603", "ICD10CM:P83.4", "ICD9:778.7", "MEDGEN:258541", "SCTID:34831003", "UMLS:C1449721"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.", "id": "MONDO:0001325", "name": "Penile cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cancer of penis", "malignant neoplasm of penis", "malignant neoplasm of the penis", "malignant penile neoplasm", "malignant penile tumor", "malignant penile tumour", "malignant penis neoplasm", "malignant tumor of penis", "malignant tumor of the penis", "malignant tumour of penis", "malignant tumour of the penis", "penile cancer", "penis cancer"], "xref": ["DOID:11615", "GARD:0009366", "ICD10CM:C60", "ICD9:187.3", "ICD9:187.4", "MEDGEN:102277", "NCIT:C7547", "Orphanet:398043", "SCTID:363516004", "UMLS:C0153601", "icd11.foundation:969101922"]}
{"category": ["biolink:Disease"], "description": "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.", "id": "MONDO:0001326", "name": "Dental pulp necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["necrosis of pulp", "necrosis of the pulp", "necrotic pulp", "pulp necrosis"], "xref": ["DOID:11623", "ICD10CM:K04.1", "ICD9:522.1", "MEDGEN:8306", "MESH:D003790", "SCTID:42711005", "UMLS:C0011407", "icd11.foundation:1192336635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001327", "name": "Pelvic muscle wasting", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11629", "ICD10CM:N81.84", "ICD9:618.83", "MEDGEN:1843467", "UMLS:C1456255"]}
{"category": ["biolink:Disease"], "description": "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.", "id": "MONDO:0001328", "name": "Thyroid hormone resistance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["generalised thyroid hormone resistance"], "xref": ["DOID:11633", "GARD:0022922", "ICD9:259.8", "MEDGEN:424854", "MESH:D018382", "NANDO:1200395", "NANDO:2100121", "NANDO:2200341", "SCTID:111567006", "UMLS:C2940786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001329", "name": "Accommodative spasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spasm of accommodation"], "xref": ["DOID:11637", "ICD10CM:H52.53", "ICD9:367.53", "MEDGEN:508923", "SCTID:30069002", "UMLS:C0152196", "icd11.foundation:755865578"]}
{"category": ["biolink:Disease"], "description": "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.", "id": "MONDO:0001330", "name": "Presbyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11638", "ICD10CM:H52.4", "ICD9:367.4", "MEDGEN:10912", "MESH:D011305", "SCTID:41256004", "UMLS:C0033075", "icd11.foundation:22794400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001331", "name": "Conjunctival deposit", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11653", "ICD9:372.56", "MEDGEN:511536", "SCTID:62660000", "UMLS:C0162280"]}
{"category": ["biolink:Disease"], "description": "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.", "id": "MONDO:0001332", "name": "Palindromic rheumatism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1166", "ICD10CM:M12.3", "ICD9:719.3", "ICD9:719.30", "ICD9:719.31", "ICD9:719.32", "ICD9:719.33", "ICD9:719.36", "ICD9:719.38", "MEDGEN:39080", "MESH:C538103", "SCTID:50442003", "UMLS:C0085574", "icd11.foundation:494875651"]}
{"category": ["biolink:Disease"], "description": "A hypertrichosis (disease) that involves the eyelid.", "id": "MONDO:0001334", "name": "Hypertrichosis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eyelid hypertrichosis (disease)", "hypertrichosis (disease) of eyelid"], "xref": ["DOID:11669", "ICD10CM:H02.86", "ICD9:374.54", "MEDGEN:509853", "SCTID:79830009", "UMLS:C0155213", "icd11.foundation:1623148241"]}
{"category": ["biolink:Disease"], "description": "A hypotrichosis that involves the eyelid.", "id": "MONDO:0001335", "name": "Hypotrichosis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eyelid hypotrichosis"], "xref": ["DOID:11671", "ICD9:374.55", "MEDGEN:509854", "SCTID:70738004", "UMLS:C0155214"]}
{"category": ["biolink:Disease"], "description": "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0001336", "name": "Familial hyperlipidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hyperlipidemia (disease)"], "xref": ["DOID:1168", "GARD:0022924", "MEDGEN:675194", "NANDO:2200603", "UMLS:C0700623"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001337", "name": "Inflamed seborrheic keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11685", "ICD10CM:L82.0", "ICD9:702.11", "MEDGEN:580965", "SCTID:442348004", "UMLS:C0376117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001338", "name": "Acute apical periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute apical periodontitis of pulpal origin"], "xref": ["DOID:11693", "ICD10CM:K04.4", "ICD9:522.4", "MEDGEN:901807", "SCTID:718053009", "UMLS:C4084770"]}
{"category": ["biolink:Disease"], "description": "The formation of a blood clot (thrombus) in the portal vein.", "id": "MONDO:0001339", "name": "Portal vein thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["portal vein thrombotic disease", "thrombotic disease of portal vein"], "xref": ["DOID:11695", "ICD10CM:I81", "ICD10WHO:I81", "ICD9:452", "MEDGEN:56372", "NCIT:C78565", "SCTID:17920008", "UMLS:C0155773", "icd11.foundation:866276949"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the heart", "id": "MONDO:0001340", "name": "Heart cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cardiac neoplasm, malignant", "cancer of heart", "heart cancer", "malignant Cardiac neoplasm", "malignant Cardiac tumor", "malignant Cardiac tumour", "malignant heart neoplasm", "malignant heart tumor", "malignant heart tumour", "malignant neoplasm of heart", "malignant neoplasm of the heart", "malignant tumor of heart", "malignant tumor of the heart", "malignant tumour of heart", "malignant tumour of the heart"], "xref": ["DOID:117", "GARD:0027573", "ICD10CM:C38.0", "ICD9:164.1", "MEDGEN:57787", "MESH:D006338", "NCIT:C3548", "UMLS:C0153500"]}
{"category": ["biolink:Disease"], "description": "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.", "id": "MONDO:0001341", "name": "Selective iga deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SIgAD", "immunoglobulin A deficiency", "selective IgA immunodeficiency"], "xref": ["DOID:0060025", "DOID:11701", "EFO:1001929", "GARD:0027574", "MEDGEN:883982", "MESH:D017098", "NANDO:1200347", "NANDO:2200720", "NCIT:C26964", "Orphanet:69127", "SCTID:29260007", "UMLS:C4049006"]}
{"category": ["biolink:Disease"], "description": "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.", "id": "MONDO:0001342", "name": "Dysgammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dysgammaglobulinemia", "dysgammaglobulinemia (disease)", "dysgammaglobulinemia (finding)"], "xref": ["DOID:11702", "GARD:0022925", "HP:0002961", "MEDGEN:41679", "MESH:D004406", "SCTID:123782009", "UMLS:C0013374"]}
{"category": ["biolink:Disease"], "description": "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.", "id": "MONDO:0001343", "name": "Impaired renal function disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11705", "ICD10CM:N25", "ICD9:588.8", "ICD9:588.89", "ICD9:588.9", "MEDGEN:574572", "SCTID:197663003", "UMLS:C0341677"]}
{"category": ["biolink:Disease"], "description": "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.", "id": "MONDO:0001345", "name": "Antidepressant type abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11718", "ICD9:305.8", "MEDGEN:572698", "UMLS:C0338677"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.", "id": "MONDO:0001347", "name": "Facioscapulohumeral muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FSH dystrophy", "FSHD", "facioscapulohumeral dystrophy", "facioscapulohumeral muscular dystrophy", "facioscapulohumeral myopathy"], "xref": ["DOID:11727", "GARD:0009941", "ICD10CM:G71.02", "MEDGEN:65956", "MESH:D020391", "MedDRA:10064087", "NANDO:1200491", "NANDO:2200859", "NCIT:C84704", "NORD:1116", "OMIMPS:158900", "Orphanet:269", "SCTID:399091004", "UMLS:C0238288", "icd11.foundation:621965073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001349", "name": "Odontoclasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11736", "ICD9:521.05", "MEDGEN:574111", "SCTID:196305005", "UMLS:C0341004", "icd11.foundation:43527109"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the parametrium.", "id": "MONDO:0001350", "name": "Parametrium malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of parametrium", "malignant neoplasm of parametrium", "malignant parametrium neoplasm", "parametrium cancer"], "xref": ["DOID:11746", "ICD10CM:C57.3", "ICD9:183.4", "MEDGEN:509332", "SCTID:448674007", "UMLS:C0153581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001351", "name": "Uterine adnexa cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11747", "ICD9:183", "ICD9:183.9", "MEDGEN:509333", "UMLS:C0153584"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the round ligament of uterus.", "id": "MONDO:0001352", "name": "Round ligament malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of round ligament of uterus", "malignant neoplasm of round ligament", "malignant neoplasm of round ligament of uterus", "malignant round ligament of uterus neoplasm", "round ligament of uterus cancer"], "xref": ["DOID:11748", "ICD10CM:C57.2", "ICD9:183.5", "MEDGEN:577692", "SCTID:188204000", "UMLS:C0346867", "icd11.foundation:176621155"]}
{"category": ["biolink:Disease"], "description": "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.", "id": "MONDO:0001353", "name": "Bordetella parapertussis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bordetella parapertussis caused disease or disorder", "Bordetella parapertussis disease or disorder", "infection due to Bordetella parapertussis"], "xref": ["DOID:11750", "ICD10CM:A37.1", "ICD9:033.1", "MEDGEN:546794", "SCTID:77116006", "UMLS:C0275742", "icd11.foundation:704491122"]}
{"category": ["biolink:Disease"], "description": "A hemosiderosis that involves the camera-type eye.", "id": "MONDO:0001355", "name": "Ocular siderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["camera-type eye hemosiderosis", "hemosiderosis of camera-type eye", "siderosis bulbi", "siderosis of eye", "siderosis of globe"], "xref": ["DOID:11754", "ICD10CM:H44.32", "ICD9:360.23", "MEDGEN:543098", "SCTID:25277000", "UMLS:C0271001"]}
{"category": ["biolink:Disease"], "description": "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.", "id": "MONDO:0001356", "name": "Iron deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iron-deficiency anaemia", "iron-deficiency anemia"], "xref": ["DOID:11758", "ICD10CM:D50", "ICD9:280.8", "ICD9:280.9", "MEDGEN:57668", "MESH:D018798", "NCIT:C84484", "SCTID:87522002", "UMLS:C0162316"]}
{"category": ["biolink:Disease"], "description": "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.", "id": "MONDO:0001357", "name": "Hypochromic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaemia hypochromic", "anemia hypochromic", "hypochromic anaemia (disease)", "hypochromic anemia", "hypochromic anemia (disease)"], "xref": ["DOID:11759", "HP:0001931", "MEDGEN:8065", "NCIT:C34380", "SCTID:44452003", "UMLS:C0002884"]}
{"category": ["biolink:Disease"], "description": "A disease involving the bronchus.", "id": "MONDO:0001358", "name": "Bronchial disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchial disorder", "bronchospasm", "bronchus disease", "bronchus disease or disorder", "disease of bronchus", "disease or disorder of bronchus", "disorder of bronchus"], "xref": ["DOID:1176", "EFO:1002018", "ICD9:519.19", "MEDGEN:14233", "MESH:D001982", "NCIT:C34439", "SCTID:41427001", "UMLS:C0006261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001360", "name": "Blind hypotensive eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11766", "ICD9:360.41", "MEDGEN:509659", "SCTID:23360000", "UMLS:C0154788"]}
{"category": ["biolink:Disease"], "description": "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)", "id": "MONDO:0001361", "name": "Spontaneous ocular nystagmus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["visual deprivation nystagmus"], "xref": ["DOID:11771", "ICD10CM:H55.03", "ICD9:379.53", "MEDGEN:75748", "SCTID:45339001", "UMLS:C0271384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001363", "name": "Blind hypertensive eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11776", "ICD9:360.42", "MEDGEN:509660", "SCTID:264008", "UMLS:C0154789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001364", "name": "Regular astigmatism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11781", "ICD10CM:H52.22", "ICD9:367.21", "MEDGEN:508921", "SCTID:68905002", "UMLS:C0152193", "icd11.foundation:879600754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001365", "name": "Necrosis of ear ossicle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11783", "ICD9:385.24"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001366", "name": "Splenic sequestration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11786", "GARD:0022926", "ICD9:289.52", "MEDGEN:1843463", "UMLS:C1260402"]}
{"category": ["biolink:Disease"], "description": "Chronic form of congestive splenomegaly.", "id": "MONDO:0001367", "name": "Chronic congestive splenomegaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congestive splenomegaly, chronic"], "xref": ["DOID:11787", "GARD:0022927", "ICD10CM:D73.2", "ICD9:289.51", "MEDGEN:584995", "SCTID:191382009", "UMLS:C0398661", "icd11.foundation:140794056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001368", "name": "Phthisical cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11793", "ICD9:371.05", "MEDGEN:509789", "SCTID:28143002", "UMLS:C0155102"]}
{"category": ["biolink:Disease"], "description": "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.", "id": "MONDO:0001369", "name": "Chronic laryngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["laryngitis, chronic"], "xref": ["DOID:11797", "ICD10CM:J37.0", "ICD9:476.0", "MEDGEN:102342", "NCIT:C26975", "SCTID:29951006", "UMLS:C0155836", "icd11.foundation:2009723608"]}
{"category": ["biolink:Disease"], "description": "Fluid collection within the pericardial sac, usually due to inflammation.", "id": "MONDO:0001370", "name": "Pericardial effusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fluid, pericardial", "pericardial effusion", "pericardial effusion (disease)", "pericardial fluid"], "xref": ["DOID:118", "HP:0001698", "MEDGEN:10653", "MESH:D010490", "NCIT:C3319", "SCTID:373945007", "UMLS:C0031039", "icd11.foundation:2002014072"]}
{"category": ["biolink:Disease"], "description": "A nutritional deficit that is caused by inadequate protein or calorie intake.", "id": "MONDO:0001371", "name": "Protein-energy malnutrition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Protein energy malnutrition"], "xref": ["DOID:11801", "EFO:0009563", "ICD9:263.8", "ICD9:263.9", "ICD9:269.8", "MEDGEN:19521", "MESH:D011502", "NCIT:C34952", "SCTID:238107002", "UMLS:C0033677"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the neck of urinary bladder.", "id": "MONDO:0001372", "name": "Bladder neck cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of neck of urinary bladder", "malignant neck of urinary bladder neoplasm", "malignant neoplasm of neck of urinary bladder", "malignant tumour of bladder neck", "neck of urinary bladder cancer"], "xref": ["DOID:11809", "ICD9:188.5", "MEDGEN:509341", "SCTID:188244007", "UMLS:C0153613", "icd11.foundation:1229451428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001373", "name": "Urinary bladder posterior wall cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11811", "ICD9:188.4", "MEDGEN:509340", "SCTID:188243001", "UMLS:C0153612"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal cell neoplasm that affects the urinary bladder.", "id": "MONDO:0001374", "name": "Bladder sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bladder sarcoma", "sarcoma of bladder", "sarcoma of the bladder", "sarcoma of the urinary bladder", "sarcoma of urinary bladder", "urinary bladder sarcoma"], "xref": ["DOID:11812", "GARD:0022928", "MEDGEN:87612", "NCIT:C4669", "SCTID:278046008", "UMLS:C0349666"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the trigone of urinary bladder.", "id": "MONDO:0001375", "name": "Bladder trigone cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of trigone of urinary bladder", "malignant neoplasm of trigone of urinary bladder", "malignant trigone of urinary bladder neoplasm", "trigone of urinary bladder cancer"], "xref": ["DOID:11813", "ICD9:188.0", "MEDGEN:635606", "SCTID:188239000", "UMLS:C0496826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001376", "name": "Urinary bladder anterior wall cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11814", "ICD9:188.3", "MEDGEN:509339", "SCTID:188242006", "UMLS:C0153611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001377", "name": "Vitreous syneresis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vitreous degeneration"], "xref": ["DOID:11816", "ICD9:379.21", "MEDGEN:509938", "SCTID:60189009", "UMLS:C0155366"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the urachus.", "id": "MONDO:0001378", "name": "Urachus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of urachus", "malignant neoplasm of urachus", "malignant tumour of urachus", "malignant urachus neoplasm", "urachus cancer"], "xref": ["DOID:11817", "ICD10CM:C67.7", "ICD9:188.7", "MEDGEN:509342", "SCTID:363456000", "UMLS:C0153615", "icd11.foundation:1486974415"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ureteral orifice.", "id": "MONDO:0001379", "name": "Ureteric orifice cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of ureteral orifice", "malignant neoplasm of ureteral orifice", "malignant tumour of ureteric orifice", "malignant ureteral orifice neoplasm", "orifice of the ureter", "ureteral orifice cancer"], "xref": ["DOID:11818", "ICD9:188.6", "MEDGEN:102280", "SCTID:188245008", "UMLS:C0153614"]}
{"category": ["biolink:Disease"], "description": "Cancer of the upper, convex surface of the bladder.", "id": "MONDO:0001380", "name": "Bladder dome cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of fundus of urinary bladder", "fundus of urinary bladder cancer", "malignant fundus of urinary bladder neoplasm", "malignant neoplasm of dome of urinary bladder", "malignant neoplasm of fundus of urinary bladder", "malignant tumour of vault of bladder"], "xref": ["DOID:11820", "ICD9:188.1", "MEDGEN:141677", "SCTID:188240003", "UMLS:C0496827"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that involves the urinary bladder.", "id": "MONDO:0001381", "name": "Bladder lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of bladder", "lymphoma of the bladder", "lymphoma of the urinary bladder", "lymphoma of urinary bladder", "primary bladder lymphoma", "urinary bladder lymphoma"], "xref": ["DOID:11821", "GARD:0022929", "MEDGEN:231948", "NCIT:C6164", "UMLS:C1332561"]}
{"category": ["biolink:Disease"], "description": "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.", "id": "MONDO:0001382", "name": "Hepatorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11823", "ICD10CM:K76.7", "ICD9:572.4", "MEDGEN:9224", "MESH:D006530", "NCIT:C113400", "SCTID:51292008", "UMLS:C0019212", "icd11.foundation:1015890899"]}
{"category": ["biolink:Disease"], "description": "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.", "id": "MONDO:0001383", "name": "Degenerative myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["progressive high (degenerative) myopia"], "xref": ["DOID:11829", "GARD:0022930", "ICD10CM:H44.2", "ICD9:360.21", "MEDGEN:57597", "MESH:D047728", "SCTID:32022003", "UMLS:C0154778"]}
{"category": ["biolink:Disease"], "description": "The condition in which the individual does not see far distances clearly.", "id": "MONDO:0001384", "name": "Myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myopia", "myopia (disease)", "near-sightedness"], "xref": ["DOID:11830", "HP:0000545", "ICD10CM:H52.1", "ICD9:367.1", "MEDGEN:44558", "MESH:D009216", "OMIMPS:160700", "SCTID:57190000", "UMLS:C0027092", "icd11.foundation:1666440799"]}
{"category": ["biolink:Disease"], "description": "Visual impairment due to visual cortex dysfunction.", "id": "MONDO:0001385", "name": "Cortical blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CVI", "cerebral visual impairment", "cortical visual impairment", "cortical/cerebral visual impairment"], "xref": ["DOID:11831", "GARD:0027575", "ICD10CM:H47.61", "ICD9:377.75", "MEDGEN:57834", "MESH:D019575", "NCIT:C118707", "SCTID:68574006", "UMLS:C0155320"]}
{"category": ["biolink:Disease"], "description": "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'", "id": "MONDO:0001386", "name": "Visual epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11832", "GARD:0022931", "MEDGEN:75723", "MESH:D012640", "NCIT:C3980", "SCTID:39194005", "UMLS:C0270824"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.", "id": "MONDO:0001387", "name": "Penile sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["penile sarcoma", "penis sarcoma", "sarcoma of penis", "sarcoma of the penis"], "xref": ["DOID:11838", "GARD:0022932", "MEDGEN:65960", "NCIT:C7730", "UMLS:C0238352"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the glans penis.", "id": "MONDO:0001388", "name": "Glans penis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of glans penis", "glans penis cancer", "malignant glans penis neoplasm", "malignant neoplasm of glans penis", "malignant tumour of glans penis"], "xref": ["DOID:11839", "GARD:0022933", "ICD10CM:C60.1", "ICD9:187.2", "MEDGEN:509337", "NCIT:C194357", "SCTID:363451005", "UMLS:C0153599", "icd11.foundation:1971143311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001390", "name": "Transient refractive change", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11850", "ICD9:367.81", "MEDGEN:509757", "SCTID:81519008", "UMLS:C0155000", "icd11.foundation:416871389"]}
{"category": ["biolink:Disease"], "description": "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.", "id": "MONDO:0001391", "name": "Indeterminate leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["indeterminate leprosy [group I]"], "xref": ["DOID:11851", "GARD:0022934", "ICD10CM:A30.0", "ICD9:030.2", "MEDGEN:507841", "SCTID:14386001", "UMLS:C0021192", "icd11.foundation:2010059430"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001392", "name": "Monocular exotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11853", "ICD10CM:H50.11", "ICD9:378.11", "MEDGEN:57752", "SCTID:5725006", "UMLS:C0152206", "icd11.foundation:1732547896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001393", "name": "Peripheral focal chorioretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11864", "GARD:0022935", "ICD9:363.04", "MEDGEN:573121", "SCTID:56787009", "UMLS:C0339394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001394", "name": "Chronic erythremia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["DOID:11868", "ICD9:207.1"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001395", "name": "Macular keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11871", "ICD10CM:H16.11", "ICD9:370.22", "MEDGEN:509772", "SCTID:2853006", "UMLS:C0155076", "icd11.foundation:1283506871"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001396", "name": "Abnormal threshold of rods", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abnormal dark adaptation curve"], "xref": ["DOID:11874", "ICD10CM:H53.61", "ICD9:368.63", "MEDGEN:509764", "SCTID:50455002", "UMLS:C0155019"]}
{"category": ["biolink:Disease"], "description": "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.", "id": "MONDO:0001397", "name": "Mononeuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1188", "EFO:0009558", "MEDGEN:99214", "MESH:D020422", "SCTID:128189008", "UMLS:C0494491", "icd11.foundation:1866592137"]}
{"category": ["biolink:Disease"], "description": "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.", "id": "MONDO:0001398", "name": "Ureter benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the ureter", "benign neoplasm of ureter", "benign tumor of the ureter", "benign tumor of ureter", "benign tumour of the ureter", "benign tumour of ureter", "benign ureter neoplasm", "benign ureter tumor", "benign ureter tumour", "benign ureteral neoplasm", "benign ureteral tumor", "benign ureteral tumour", "benign ureteric neoplasm", "ureter benign neoplasm"], "xref": ["DOID:11885", "ICD10CM:D30.2", "ICD9:223.2", "MEDGEN:102303", "NCIT:C3617", "SCTID:92464009", "UMLS:C0154016", "icd11.foundation:1233876028"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0001399", "name": "Ureter leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of the ureter", "leiomyoma of ureter", "ureter leiomyoma", "ureteral leiomyoma"], "xref": ["DOID:11887", "MEDGEN:234457", "NCIT:C6161", "UMLS:C1336875"]}
{"category": ["biolink:Disease"], "description": "A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.", "id": "MONDO:0001400", "name": "Schwannoma of ureter", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neurilemmoma of the ureter", "neurilemmoma of ureter", "schwannoma of the ureter", "ureter neurilemmoma", "ureter schwannoma", "ureteral neurilemmoma", "ureteral schwannoma"], "xref": ["DOID:11888", "GARD:0022937", "MEDGEN:234459", "NCIT:C6162", "UMLS:C1336877"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001401", "name": "Female breast nipple and areola cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11889", "ICD9:174.0", "MEDGEN:507933", "SCTID:188147009", "UMLS:C0024621"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.", "id": "MONDO:0001402", "name": "Vaginal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of vagina", "malignant neoplasm of the vagina", "malignant neoplasm of vagina", "malignant tumor of the vagina", "malignant tumor of vagina", "malignant tumour of the vagina", "malignant tumour of vagina", "malignant vagina neoplasm", "malignant vagina tumor", "malignant vagina tumour", "malignant vaginal neoplasm", "malignant vaginal tumor", "malignant vaginal tumour", "vagina cancer"], "xref": ["DOID:119", "ICD10CM:C52", "ICD9:184.0", "MEDGEN:12040", "MESH:D014625", "NCIT:C7410", "SCTID:363445000", "UMLS:C0042237", "icd11.foundation:798353632"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the labium majora.", "id": "MONDO:0001403", "name": "Labium majus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of labium majora", "labium majora cancer", "malignant labia majora neoplasm", "malignant labia majora tumor", "malignant labia majora tumour", "malignant labium majora neoplasm", "malignant neoplasm of labia majora", "malignant neoplasm of labium majora", "malignant neoplasm of the labia majora", "malignant tumor of labia majora", "malignant tumor of the labia majora", "malignant tumour of labia majora", "malignant tumour of the labia majora"], "xref": ["DOID:11905", "GARD:0027576", "ICD9:184.1", "MEDGEN:96920", "NCIT:C7638", "SCTID:363446004", "UMLS:C0496814"]}
{"category": ["biolink:Disease"], "description": "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)", "id": "MONDO:0001404", "name": "Ecthyma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11907", "ICD9:686.8", "MEDGEN:8541", "MESH:D004473", "SCTID:85791004", "UMLS:C0013568", "icd11.foundation:337308923"]}
{"category": ["biolink:Disease"], "description": "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.", "id": "MONDO:0001405", "name": "Dermatophytosis of groin and perianal area", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatophytosis of groin and perianal area"], "xref": ["DOID:11917", "ICD9:110.3", "MEDGEN:3769", "NCIT:C34535", "SCTID:399029005", "UMLS:C0011638"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.", "id": "MONDO:0001406", "name": "Peripheral nervous system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PNS neoplasm", "PNS neoplasms", "PNS tumor", "PNS tumour", "neoplasm of PNS", "neoplasm of peripheral nerve", "neoplasm of peripheral nervous system", "neoplasm of the PNS", "neoplasm of the peripheral nerve", "neoplasm of the peripheral nervous system", "neoplasms, PNS", "neoplasms, peripheral nervous system", "peripheral nerve neoplasm", "peripheral nerve tumor", "peripheral nerve tumour", "peripheral nervous system neoplasm", "peripheral nervous system neoplasm (disease)", "peripheral nervous system tumor", "peripheral nervous system tumour", "tumor of PNS", "tumor of peripheral nerve", "tumor of peripheral nervous system", "tumor of the PNS", "tumor of the peripheral nerve", "tumor of the peripheral nervous system", "tumour of PNS", "tumour of peripheral nerve", "tumour of peripheral nervous system", "tumour of the PNS", "tumour of the peripheral nerve", "tumour of the peripheral nervous system"], "xref": ["DOID:1192", "EFO:0002431", "ICD9:239.2", "MEDGEN:45817", "MESH:D010524", "NCIT:C3321", "ONCOTREE:PNS", "SCTID:126980002", "UMLS:C0031118"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the trachea", "id": "MONDO:0001407", "name": "Tracheal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ca trachea", "cancer of trachea", "malignant neoplasm of the trachea", "malignant neoplasm of trachea", "malignant trachea neoplasm", "malignant trachea tumor", "malignant trachea tumour", "malignant tracheal neoplasm", "malignant tracheal tumor", "malignant tracheal tumour", "malignant tumor of the trachea", "malignant tumor of trachea", "malignant tumour of the trachea", "malignant tumour of trachea", "trachea cancer"], "xref": ["DOID:11920", "ICD10CM:C33", "ICD9:162.0", "MEDGEN:102274", "NCIT:C9346", "SCTID:363432004", "UMLS:C0153489", "icd11.foundation:1630573405"]}
{"category": ["biolink:Disease"], "description": "Neuropathy that is caused by inadequate blood supply.", "id": "MONDO:0001408", "name": "Ischemic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ischaemic peripheral neuropathy"], "xref": ["DOID:1195", "GARD:0022938", "ICD9:356.9", "MEDGEN:116055", "NCIT:C27025", "SCTID:129611009", "UMLS:C0238309"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory disease affecting the esophageal wall.", "id": "MONDO:0001409", "name": "Esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["esophagitis", "esophagitis (disease)", "esophagus inflammation", "inflammation of esophagus", "inflammation of oesophagus", "oesophagus inflammation"], "xref": ["DOID:11963", "HP:0100633", "ICD10CM:K20", "ICD9:530.1", "ICD9:530.10", "ICD9:530.12", "MEDGEN:4549", "MESH:D004941", "NCIT:C9224", "SCTID:16761005", "UMLS:C0014868", "icd11.foundation:1540965840"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.", "id": "MONDO:0001410", "name": "Postmenopausal atrophic vaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrophic vaginitis", "senile vaginitis"], "xref": ["DOID:11968", "ICD10CM:N95.2", "ICD9:627.3", "MEDGEN:510282", "MESH:D059268", "SCTID:52441000", "UMLS:C0156409", "icd11.foundation:1876048433"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.", "id": "MONDO:0001411", "name": "Synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11971", "GARD:0022939", "MEDGEN:11689", "MESH:D013580", "UMLS:C0039093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001412", "name": "Conjunctival concretion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11988", "ICD9:372.54", "MEDGEN:509822", "SCTID:13706005", "UMLS:C0155162", "icd11.foundation:1215003615"]}
{"category": ["biolink:Disease"], "description": "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.", "id": "MONDO:0001413", "name": "Ulceroglandular tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:11990", "GARD:0022940", "ICD10CM:A21.0", "ICD9:021.0", "MEDGEN:509087", "SCTID:37722001", "UMLS:C0152941"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.", "id": "MONDO:0001414", "name": "Osteopoikilosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["osteopoikilosis", "osteopoikilosis (disease)"], "xref": ["DOID:11991", "GARD:0027577", "HP:0010739", "ICD9:756.53", "MEDGEN:45251", "MESH:D010023", "NANDO:2201024", "NCIT:C84985", "SCTID:9147009", "UMLS:C0029455", "icd11.foundation:801926378"]}
{"category": ["biolink:Disease"], "description": "Loss of testicular volume.", "id": "MONDO:0001415", "name": "Atrophy of testis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testicular atrophy"], "xref": ["DOID:11994", "ICD10CM:N50.0", "ICD9:608.3", "MEDGEN:57626", "NCIT:C123259", "SCTID:17585008", "UMLS:C0156312", "icd11.foundation:1735709719"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.", "id": "MONDO:0001416", "name": "Female reproductive organ cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of female reproductive organ", "female reproductive cancer", "female reproductive organ cancer", "gynecologic cancer", "malignant female reproductive organ neoplasm", "malignant female reproductive system neoplasm", "malignant female reproductive system tumor", "malignant female reproductive system tumour", "malignant gynecologic neoplasm", "malignant gynecologic tumor", "malignant gynecologic tumour", "malignant neoplasm of female reproductive organ", "malignant neoplasm of female reproductive system", "malignant neoplasm of the female reproductive system", "malignant tumor of female reproductive system", "malignant tumor of the female reproductive system", "malignant tumour of female reproductive system", "malignant tumour of the female reproductive system"], "xref": ["DOID:120", "EFO:1001331", "ICD10CM:C51-C58", "ICD9:184", "MEDGEN:195944", "NCIT:C4913", "SCTID:126907002", "UMLS:C0699889"]}
{"category": ["biolink:Disease"], "description": "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.", "id": "MONDO:0001417", "name": "Tracheal lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of the trachea", "lymphoma of trachea", "primary tracheal lymphoma", "trachea lymphoma", "tracheal lymphoma"], "xref": ["DOID:12001", "GARD:0022941", "MEDGEN:277825", "NCIT:C6248", "UMLS:C1336773"]}
{"category": ["biolink:Disease"], "description": "A rare malignant soft tissue neoplasm that arises from the trachea.", "id": "MONDO:0001418", "name": "Trachea sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["sarcoma of the trachea", "sarcoma of trachea", "trachea sarcoma", "tracheal sarcoma"], "xref": ["DOID:12002", "GARD:0022942", "MEDGEN:237016", "NCIT:C6050", "UMLS:C1336774"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.", "id": "MONDO:0001419", "name": "Trachea squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidermoid carcinoma of the trachea", "epidermoid carcinoma of trachea", "squamous cell carcinoma of the trachea", "squamous cell carcinoma of trachea", "trachea epidermoid carcinoma", "trachea squamous cell carcinoma", "tracheal epidermoid carcinoma", "tracheal squamous cell carcinoma"], "xref": ["DOID:12003", "EFO:1000600", "MEDGEN:91059", "NCIT:C4448", "SCTID:254620000", "UMLS:C0345946", "icd11.foundation:1439188070"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.", "id": "MONDO:0001420", "name": "Trigeminal nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cranial nerve V neoplasms", "cranial nerve V tumors", "cranial nerve V tumours", "fifth cranial nerve neoplasm", "fifth cranial nerve tumor", "fifth cranial nerve tumour", "neoplasm of fifth cranial nerve", "neoplasm of the fifth cranial nerve", "neoplasm of the trigeminal nerve", "neoplasm of trigeminal nerve", "neoplasms, cranial nerve V", "trigeminal nerve neoplasm", "trigeminal nerve neoplasm (disease)", "trigeminal nerve neoplasms", "trigeminal nerve tumor", "trigeminal nerve tumors", "trigeminal nerve tumour", "trigeminal nerve tumours", "tumor of fifth cranial nerve", "tumor of the fifth cranial nerve", "tumor of the trigeminal nerve", "tumor of trigeminal nerve", "tumors, cranial nerve V", "tumour of fifth cranial nerve", "tumour of the fifth cranial nerve", "tumour of the trigeminal nerve", "tumour of trigeminal nerve"], "xref": ["DOID:1201", "ICD9:239.7", "MEDGEN:226812", "NCIT:C5122", "SCTID:126971002", "UMLS:C1263897"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a frontal lobe.", "id": "MONDO:0001421", "name": "Frontal lobe neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["frontal lobe neoplasm (disease)", "frontal lobe tumor", "frontal lobe tumour", "neoplasm of frontal lobe", "neoplasm of the frontal lobe", "tumor of frontal lobe", "tumor of the frontal lobe", "tumour of frontal lobe", "tumour of the frontal lobe"], "xref": ["DOID:12016", "ICD9:191.1", "MEDGEN:224730", "NCIT:C5572", "SCTID:126954003", "UMLS:C1263886"]}
{"category": ["biolink:Disease"], "description": "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.", "id": "MONDO:0001422", "name": "Primary aldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Conn syndrome", "Conn's syndrome", "primary aldosteronism", "primary hyperaldosteronism"], "xref": ["DOID:12028", "ICD10CM:E26.0", "ICD10CM:E26.01", "ICD9:255.12", "MEDGEN:278002", "NANDO:2200361", "NCIT:C34510", "SCTID:190507007", "UMLS:C1384514", "icd11.foundation:197924221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001423", "name": "Drug-induced mental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1203", "ICD9:292.8", "ICD9:292.89", "MEDGEN:1843491", "UMLS:C0154330"]}
{"category": ["biolink:Disease"], "description": "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.", "id": "MONDO:0001426", "name": "Mediastinum neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal neurofibroma", "mediastinum neurofibroma", "neurofibroma of mediastinum", "neurofibroma of the mediastinum"], "xref": ["DOID:12064", "GARD:0022943", "MEDGEN:277354", "NCIT:C6631", "UMLS:C1334674"]}
{"category": ["biolink:Disease"], "description": "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.", "id": "MONDO:0001427", "name": "Dieulafoy lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dieulafoy lesion (hemorrhagic) of stomach and duodenum"], "xref": ["DOID:12070", "ICD10CM:K31.82", "ICD9:537.84", "MEDGEN:574250", "SCTID:109558001", "UMLS:C0341217"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001428", "name": "Pylorospasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12072", "ICD9:537.81", "MEDGEN:508908", "SCTID:335002", "UMLS:C0152163"]}
{"category": ["biolink:Disease"], "description": "Arthropathy that is not permanent.", "id": "MONDO:0001429", "name": "Transient arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12084", "ICD9:716.40", "ICD9:716.41", "ICD9:716.48", "MEDGEN:101813", "NCIT:C35761", "SCTID:66191007", "UMLS:C0152083", "icd11.foundation:404860910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001430", "name": "Deep corneal vascularisation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deep vascularization of cornea"], "xref": ["DOID:12087", "ICD10CM:H16.44", "ICD9:370.63", "MEDGEN:509784", "SCTID:2102007", "UMLS:C0155095", "icd11.foundation:47603082"]}
{"category": ["biolink:Disease"], "description": "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.", "id": "MONDO:0001431", "name": "Toxic or nutritional optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:1209", "GARD:0027578", "ICD10CM:H46.2", "ICD9:377.33", "MEDGEN:509902", "SCTID:82108004", "UMLS:C0155302"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.", "id": "MONDO:0001433", "name": "Vaginal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vagina", "disease or disorder of vagina", "disorder of vagina", "vagina disease", "vagina disease or disorder", "vaginal disease", "vaginal disorder"], "xref": ["DOID:121", "MEDGEN:12042", "MESH:D014623", "NCIT:C26910", "SCTID:25658005", "UMLS:C0042251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001434", "name": "Inflammatory spondylopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12105", "ICD9:720.81", "ICD9:720.89", "ICD9:720.9", "MEDGEN:215416", "SCTID:202649003", "UMLS:C0949690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001435", "name": "Bullous retinoschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:12108", "GARD:0027579", "ICD9:361.12", "MEDGEN:576202", "SCTID:65545003", "UMLS:C0344289"]}
{"category": ["biolink:Disease"], "description": "Accumulation of iron in internal organs.", "id": "MONDO:0001436", "name": "Hemosiderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12119", "MEDGEN:42409", "MESH:D006486", "NCIT:C82892", "SCTID:39011001", "UMLS:C0019114"]}
{"category": ["biolink:Disease"], "description": "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.", "id": "MONDO:0001437", "name": "Pulmonary alveolar proteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "synonym": ["pulmonary alveolar proteinosis"], "xref": ["DOID:12120", "ICD9:516.0", "MEDGEN:1763046", "MESH:D011649", "NANDO:1200746", "NCIT:C85037", "SCTID:10501004", "UMLS:C5400698", "icd11.foundation:1869739196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001438", "name": "Postinflammatory pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:12123", "GARD:0022944", "ICD9:515", "MEDGEN:511625", "SCTID:266368002", "UMLS:C0175999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001439", "name": "Episcleritis periodica fugax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12124", "ICD10CM:H15.11", "ICD9:379.01", "MEDGEN:509926", "SCTID:31166000", "UMLS:C0155351", "icd11.foundation:2091821028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001440", "name": "Neurotrophic keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12125", "ICD10CM:H16.23", "ICD9:370.35", "MEDGEN:509777", "SCTID:77080005", "UMLS:C0155084"]}
{"category": ["biolink:Disease"], "description": "An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.", "id": "MONDO:0001441", "name": "Pica disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pica", "Pica eating disorder"], "xref": ["DOID:12128", "ICD9:307.52", "MEDGEN:45917", "MESH:D010842", "NCIT:C92566", "SCTID:14077003", "UMLS:C0031873", "icd11.foundation:833390860"]}
{"category": ["biolink:Disease"], "description": "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.", "id": "MONDO:0001442", "name": "Dysthymic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dysthymia"], "xref": ["DOID:12139", "EFO:0008623", "ICD10CM:F34.1", "ICD9:300.4", "MEDGEN:8517", "MESH:D019263", "NCIT:C34562", "SCTID:78667006", "UMLS:C0013415", "icd11.foundation:810797047"]}
{"category": ["biolink:Disease"], "description": "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.", "id": "MONDO:0001443", "name": "Tympanosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1214", "ICD10CM:H74.0", "ICD9:385.00", "ICD9:385.09", "MEDGEN:473094", "MESH:D063371", "SCTID:23606001", "UMLS:C0395887", "icd11.foundation:28175464"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.", "id": "MONDO:0001444", "name": "Chagas disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chagas disease", "Chagas' disease", "Trypanosoma cruzi caused disease or disorder", "Trypanosoma cruzi disease or disorder", "Trypanosoma cruzi infectious disease", "infection by trypanosoma cruzi"], "xref": ["DOID:12140", "GARD:0018795", "ICD10CM:B57", "ICD10WHO:B57", "ICD9:086.2", "MEDGEN:11935", "MESH:D014355", "MedDRA:10001935", "NCIT:C84629", "Orphanet:3386", "SCTID:77506005", "UMLS:C0041234", "icd11.foundation:1365585570"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001445", "medic_stub": true, "name": "obsolete neurogenic bladder", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001446", "name": "Low compliance bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertonicity of bladder", "low bladder compliance"], "xref": ["DOID:12144", "ICD9:596.52", "MEDGEN:635444", "SCTID:9009001", "UMLS:C0489967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001447", "name": "Detrusor sphincter dyssynergia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["detrusor sphincter dyssynergia", "detrusor sphincter dyssynergia (disease)"], "xref": ["DOID:12145", "HP:0025488", "ICD9:596.55", "MEDGEN:574618", "SCTID:236655005", "UMLS:C0341747"]}
{"category": ["biolink:Disease"], "description": "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)", "id": "MONDO:0001449", "name": "Lymphocytic choriomeningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphocytic choriomeningitis mammarenavirus caused infectious meningitis", "lymphocytic choriomeningitis mammarenavirus infectious meningitis", "lymphocytic meningoencephalitis"], "xref": ["DOID:12155", "GARD:0022945", "ICD10CM:A87.2", "ICD9:049.0", "MEDGEN:44220", "MESH:D008216", "UMLS:C0024266", "icd11.foundation:307264938"]}
{"category": ["biolink:Disease"], "description": "Degeneration of the peripheral retina.", "id": "MONDO:0001451", "name": "Peripheral retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral degeneration of retina", "peripheral retinal Degeneration"], "xref": ["DOID:12161", "ICD10CM:H35.4", "ICD9:362.6", "ICD9:362.60", "MEDGEN:232938", "NCIT:C34919", "SCTID:405721006", "UMLS:C1320640", "icd11.foundation:1518234440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001452", "name": "Pseudoretinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["secondary pigmentary degeneration of retina"], "xref": ["DOID:12162", "ICD9:362.65", "MEDGEN:781175", "SCTID:193396007", "UMLS:C2053820"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001453", "name": "Senile reticular retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Senile reticular degeneration of retina"], "xref": ["DOID:12163", "ICD9:362.64", "MEDGEN:509687", "SCTID:54184008", "UMLS:C0154857", "icd11.foundation:1499569117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001454", "name": "Blessig's cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Blessig cysts", "Microcystoid degeneration of retina", "Microcystoid retinal degeneration"], "xref": ["DOID:12164", "ICD10CM:H35.42", "ICD9:362.62", "MEDGEN:509686", "SCTID:37075008", "UMLS:C0154855", "icd11.foundation:332813459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001455", "name": "Retinal lattice degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["palisade degeneration of retina"], "xref": ["DOID:12165", "ICD10CM:H35.41", "ICD9:362.63", "MEDGEN:102321", "SCTID:3577000", "UMLS:C0154856", "icd11.foundation:1736115308"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001456", "name": "Cobblestone retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paving stone degeneration of retina"], "xref": ["DOID:12166", "ICD10CM:H35.43", "ICD9:362.61", "MEDGEN:509685", "SCTID:69134001", "UMLS:C0154854", "icd11.foundation:1990039815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001457", "name": "Secondary vitreoretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12167", "ICD10CM:H35.46", "ICD9:362.66", "MEDGEN:509689", "SCTID:60676002", "UMLS:C0154859", "icd11.foundation:345348088"]}
{"category": ["biolink:Disease"], "description": "A peripheral nerve lesion that involves the ulnar nerve.", "id": "MONDO:0001458", "name": "Ulnar nerve lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lesion of ulnar nerve", "peripheral nerve lesion of ulnar nerve", "ulnar nerve peripheral nerve lesion"], "xref": ["DOID:12168", "GARD:0022946", "ICD10CM:G56.2", "ICD9:354.2", "MEDGEN:710723", "SCTID:367475009", "UMLS:C1288279", "icd11.foundation:1575441355"]}
{"category": ["biolink:Disease"], "description": "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.", "id": "MONDO:0001459", "name": "Radial neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peripheral neuropathy of radial nerve", "radial nerve peripheral neuropathy"], "xref": ["DOID:12171", "GARD:0022947", "MEDGEN:148185", "MESH:D020425", "SCTID:16644004", "UMLS:C0748226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001460", "name": "Dyshormonogenic goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12175", "ICD9:246.1", "MEDGEN:508873", "SCTID:190304001", "UMLS:C0152077"]}
{"category": ["biolink:Disease"], "description": "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.", "id": "MONDO:0001461", "name": "Tinea corporis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12179", "ICD10CM:B35.4", "ICD9:110.5", "MEDGEN:508197", "SCTID:84849002", "UMLS:C0040252", "icd11.foundation:87792802"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the descending colon.", "id": "MONDO:0001462", "name": "Descending colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of descending colon", "descending colon cancer", "malignant descending colon neoplasm", "malignant neoplasm of descending colon", "malignant tumour of descending colon"], "xref": ["DOID:12190", "ICD10CM:C18.6", "ICD9:153.2", "MEDGEN:509291", "SCTID:363409003", "UMLS:C0153435"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the splenic flexure of colon.", "id": "MONDO:0001463", "name": "Splenic flexure cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of splenic flexure of colon", "malignant neoplasm of splenic flexure", "malignant neoplasm of splenic flexure of colon", "malignant splenic flexure of colon neoplasm", "malignant tumour of splenic flexure", "splenic flexure of colon cancer"], "xref": ["DOID:12191", "ICD10CM:C18.5", "ICD9:153.7", "MEDGEN:509294", "SCTID:363413005", "UMLS:C0153440"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the sigmoid colon.", "id": "MONDO:0001464", "name": "Sigmoid colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of sigmoid colon", "malignant neoplasm of sigmoid colon", "malignant sigmoid colon neoplasm", "malignant tumour of sigmoid colon", "sigmoid colon cancer"], "xref": ["DOID:12192", "ICD10CM:C18.7", "ICD9:153.3", "MEDGEN:509292", "SCTID:363410008", "UMLS:C0153436", "icd11.foundation:1717786596"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001465", "name": "Superficial keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12196", "ICD9:370.20", "MEDGEN:509771", "SCTID:27019000", "UMLS:C0155074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001466", "name": "Punctate epithelial keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["punctate keratitis"], "xref": ["DOID:12197", "ICD9:370.21", "MEDGEN:736733", "SCTID:416069001", "UMLS:C1562761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001468", "name": "Synovial plica syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["plica syndrome", "synovial plica of knee"], "xref": ["DOID:12225", "ICD10CM:M67.5", "ICD9:727.83", "ICD9:727.9", "MEDGEN:640475", "SCTID:240171001", "UMLS:C0554601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001469", "name": "Cascade stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hourglass stricture or stenosis of stomach"], "xref": ["DOID:12234", "ICD9:537.6", "MEDGEN:540460", "SCTID:54051005", "UMLS:C0267183"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the perianal skin.", "id": "MONDO:0001470", "name": "Anal margin squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal margin squamous cell carcinoma", "perianal skin squamous cell carcinoma", "squamous cell carcinoma of anal margin", "squamous cell carcinoma of the anal margin"], "xref": ["DOID:12239", "GARD:0022948", "ICD10CM:C44.520", "ICD9:173.5", "MEDGEN:278071", "NCIT:C6925", "SCTID:255084004", "UMLS:C1412037"]}
{"category": ["biolink:Disease"], "description": "An infectious meningitis caused by infection with Histoplasma capsulatum.", "id": "MONDO:0001471", "name": "Histoplasmosis meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Histoplasma capsulatum caused infectious meningitis", "Histoplasma capsulatum infectious meningitis"], "xref": ["DOID:12246", "GARD:0022949", "ICD9:115.91", "MEDGEN:509239", "UMLS:C0153277"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.", "id": "MONDO:0001472", "name": "Testicular lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of testis", "lymphoma of the testis", "primary testicular lymphoma", "testicular lymphoma"], "xref": ["DOID:12253", "GARD:0022950", "ICD9:186.9", "MEDGEN:138110", "NCIT:C6810", "ONCOTREE:TLYM", "SCTID:277664004", "UMLS:C0349644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001473", "name": "Medulloadrenal hyperfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12257", "ICD9:255.6", "MEDGEN:509543", "SCTID:111565003", "UMLS:C0154206"]}
{"category": ["biolink:Disease"], "description": "Chronic form of salpingo-oophoritis.", "id": "MONDO:0001474", "name": "Chronic salpingo-oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic salpingitis and oophoritis", "salpingo-oophoritis, chronic"], "xref": ["DOID:12265", "ICD9:614.1", "MEDGEN:510244", "SCTID:198142001", "UMLS:C0156328"]}
{"category": ["biolink:Disease"], "description": "A decrease in the number of neutrophils found in the blood.", "id": "MONDO:0001475", "name": "Neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neutropenia", "neutropenic disorder"], "xref": ["DOID:1227", "HP:0001875", "ICD9:288.0", "ICD9:288.00", "MEDGEN:163121", "MESH:D009503", "SCTID:303011007", "UMLS:C0853697", "icd11.foundation:926492960"]}
{"category": ["biolink:Disease"], "description": "An abnormality in which a part of a structure in one or both eyes is missing.", "id": "MONDO:0001476", "name": "Coloboma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["coloboma of the eye", "ocular coloboma"], "xref": ["DOID:12270", "ICD9:743.49", "MEDGEN:1046", "MESH:D003103", "NCIT:C98877", "Orphanet:194", "SCTID:93390002", "UMLS:C0009363"]}
{"category": ["biolink:Disease"], "description": "A condition of an inequality of refractive power of the two eyes.", "id": "MONDO:0001478", "name": "Anisometropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anisometropia", "anisometropia (disease)"], "xref": ["CSP:1116-1678", "DOID:12273", "HP:0012803", "ICD10CM:H52.31", "ICD9:367.31", "MEDGEN:8099", "MESH:D015858", "SCTID:3289004", "UMLS:C0003081", "icd11.foundation:386251928"]}
{"category": ["biolink:Disease"], "description": "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.", "id": "MONDO:0001479", "name": "Cutaneous diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous diphtheria"], "xref": ["DOID:12275", "GARD:0022952", "ICD10CM:A36.3", "ICD9:032.85", "MEDGEN:41599", "NCIT:C34544", "SCTID:18901009", "UMLS:C0012555", "icd11.foundation:618920860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001480", "name": "Malignant tumor of undescended testis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant neoplasm of retained testis", "malignant neoplasm of undescended testis", "malignant tumour of retained testis"], "xref": ["DOID:12276", "ICD10CM:C62.0", "ICD9:186.0", "MEDGEN:509335", "SCTID:188219004", "UMLS:C0153595", "icd11.foundation:222947236"]}
{"category": ["biolink:Disease"], "description": "A thrombophlebitis that involves the femoral vein.", "id": "MONDO:0001481", "name": "Femoral vein thrombophlebitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["femoral vein thrombophlebitis", "phlebitis and thrombophlebitis of femoral vein", "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)", "thrombophlebitis of femoral vein"], "xref": ["DOID:12282", "ICD10CM:I80.1", "ICD9:451.11", "MEDGEN:539052", "SCTID:1748006", "UMLS:C0265066"]}
{"category": ["biolink:Disease"], "description": "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03", "id": "MONDO:0001482", "name": "Testicular leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular leukemia"], "xref": ["DOID:12286", "GARD:0022954", "MEDGEN:234941", "NCIT:C9277", "UMLS:C1336711"]}
{"category": ["biolink:Disease"], "description": "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.", "id": "MONDO:0001484", "name": "Paranoid schizophrenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paranoid type schizophrenia", "paraphrenic schizophrenia"], "xref": ["DOID:1229", "ICD10CM:F20.0", "ICD9:295.3", "ICD9:295.30", "ICD9:295.31", "ICD9:295.32", "MEDGEN:20664", "MESH:D012563", "NCIT:C35006", "SCTID:31658008", "UMLS:C0036349"]}
{"category": ["biolink:Disease"], "description": "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.", "id": "MONDO:0001485", "name": "Atypical depressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12294", "ICD9:296.82", "MEDGEN:509593", "SCTID:191659001", "UMLS:C0154437"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the intrahepatic bile duct.", "id": "MONDO:0001487", "name": "Intrahepatic bile duct cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of intrahepatic bile duct", "malignant intrahepatic bile duct neoplasm", "malignant neoplasm of intrahepatic bile duct", "malignant neoplasm of intrahepatic bile ducts"], "xref": ["DOID:12298", "GARD:0022955", "ICD9:155.1", "MEDGEN:639748", "SCTID:187777008", "UMLS:C0546835", "icd11.foundation:1938186540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001488", "name": "Anterior corneal pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anterior corneal pigmentations"], "xref": ["DOID:12307", "ICD10CM:H18.01", "ICD9:371.11", "MEDGEN:509790", "SCTID:18377001", "UMLS:C0155104", "icd11.foundation:70755968"]}
{"category": ["biolink:Disease"], "description": "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.", "id": "MONDO:0001490", "name": "Corneal granular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["granular corneal dystrophy"], "xref": ["DOID:12318", "GARD:0022956", "ICD10CM:H18.53", "ICD9:371.53", "MEDGEN:42290", "NCIT:C34651", "SCTID:45283008", "UMLS:C0018179", "icd11.foundation:965716695"]}
{"category": ["biolink:Disease"], "description": "An asthma that is characterized by chronic nonproductive cough without shortness of breath.", "id": "MONDO:0001491", "name": "Cough variant asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12323", "ICD10CM:J45.991", "ICD9:493.82", "MEDGEN:675053", "SCTID:409663006", "UMLS:C0694548", "icd11.foundation:1466639844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001492", "name": "Kyphoscoliotic heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12325", "ICD10CM:I27.1", "ICD9:416.1", "MEDGEN:508888", "SCTID:45650007", "UMLS:C0152102", "icd11.foundation:1361660141"]}
{"category": ["biolink:Disease"], "description": "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.", "id": "MONDO:0001493", "name": "Chronic pulmonary heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12326", "ICD9:416.8", "ICD9:416.9", "MEDGEN:116042", "NANDO:2200299", "NCIT:C34478", "SCTID:87837008", "UMLS:C0238074"]}
{"category": ["biolink:Disease"], "description": "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.", "id": "MONDO:0001495", "name": "Hematocele of tunica vaginalis testis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12332", "MEDGEN:42386", "MESH:D006398", "SCTID:66259004", "UMLS:C0018931"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001496", "name": "Male genital organ stricture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stricture of male genital organs"], "xref": ["DOID:12333", "ICD9:608.85", "MEDGEN:510240", "SCTID:198064007", "UMLS:C0156316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001497", "name": "Male genital organ vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vascular disorder of male genital organs"], "xref": ["DOID:12335", "ICD9:608.83", "MEDGEN:508280", "SCTID:198057005", "UMLS:C0042374"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.", "id": "MONDO:0001498", "name": "Varicocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["scrotal varices", "scrotum varicose disease", "varicose disease of scrotum"], "xref": ["DOID:12337", "ICD10CM:I86.1", "ICD9:456.4", "MEDGEN:22619", "MESH:D014646", "SCTID:46871008", "UMLS:C0042341", "icd11.foundation:315302008"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that involves the retroperitoneal space.", "id": "MONDO:0001499", "name": "Retroperitoneal lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of retroperitoneal space", "primary retroperitoneal lymphoma", "retroperitoneal lymphoma", "retroperitoneal space lymphoma"], "xref": ["DOID:12339", "GARD:0022957", "MEDGEN:233407", "NCIT:C7353", "SCTID:422853008", "UMLS:C1335779"]}
{"category": ["biolink:Disease"], "description": "A sarcoma involving a retroperitoneal space.", "id": "MONDO:0001501", "name": "Retroperitoneal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["retroperitoneal sarcoma", "retroperitoneal space sarcoma", "sarcoma of retroperitoneal space"], "xref": ["DOID:12341", "GARD:0022958", "MEDGEN:107937", "NCIT:C4832", "SCTID:307219002", "UMLS:C0585129"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the retroperitoneal space.", "id": "MONDO:0001502", "name": "Retroperitoneum carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of retroperitoneal space", "carcinoma of retroperitoneum", "carcinoma of the retroperitoneum", "retroperitoneal carcinoma", "retroperitoneal space carcinoma"], "xref": ["DOID:12342", "MEDGEN:215301", "NCIT:C7352", "UMLS:C0948749"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001503", "name": "Primary eye hypotony", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["primary hypotony of eye"], "xref": ["DOID:12349", "ICD10CM:H44.44", "ICD9:360.31", "MEDGEN:509656", "SCTID:2251002", "UMLS:C0154782"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the \"fetish\").", "id": "MONDO:0001504", "name": "Fetishistic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fetishism"], "xref": ["DOID:1235", "ICD10CM:F65.0", "ICD9:302.81", "MEDGEN:8827", "MESH:D005329", "NCIT:C94353", "SCTID:59174009", "UMLS:C0015957"]}
{"category": ["biolink:Disease"], "description": "Acute hepatitis resulting from ingestion of alcohol.", "id": "MONDO:0001505", "name": "Alcoholic hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute alcoholic hepatitis", "alcoholic Hepatitis", "alcoholic hepatitis"], "xref": ["CSP:1754-6978", "DOID:12351", "EFO:1001345", "ICD10CM:K70.1", "ICD9:571.1", "MEDGEN:42422", "MESH:D006519", "NCIT:C34684", "SCTID:235875008", "UMLS:C0019187", "icd11.foundation:229221394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001506", "name": "Prostatocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12355", "ICD10CM:N41.3", "ICD9:601.3", "MEDGEN:510230", "SCTID:67685000", "UMLS:C0156291", "icd11.foundation:523988824"]}
{"category": ["biolink:Disease"], "description": "An labyrinthitis caused by infection with Viruses.", "id": "MONDO:0001507", "name": "Viral labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Viruses caused labyrinthitis", "Viruses labyrinthitis", "epidemic vertigo", "epidemic vertigo (finding)"], "xref": ["DOID:12357", "ICD10CM:A88.1", "ICD9:386.35", "MEDGEN:509997", "SCTID:409711008", "UMLS:C0155508"]}
{"category": ["biolink:Disease"], "description": "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.", "id": "MONDO:0001508", "name": "Patulous eustachian tube", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12358", "ICD10CM:H69.0", "ICD9:381.7", "MEDGEN:509965", "SCTID:30280005", "UMLS:C0155434", "icd11.foundation:1112306780"]}
{"category": ["biolink:Disease"], "description": "Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.", "id": "MONDO:0001509", "name": "Endocrine exophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Graves’ eye disease", "Graves’ ophthalmopathy", "Graves’ orbitopathy", "TED", "thyroid eye disease", "thyroid-associated ophthalmopathy"], "xref": ["DOID:12359", "ICD9:376.2", "MEDGEN:509882", "SCTID:276177000", "UMLS:C0155264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001510", "name": "Lateral displacement of eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lateral displacement of globe"], "xref": ["DOID:12360", "ICD9:376.36", "MEDGEN:509888", "SCTID:48747004", "UMLS:C0155272"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001511", "name": "Thyrotoxic exophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12362", "ICD9:376.21", "MEDGEN:509883", "SCTID:19885005", "UMLS:C0155265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001512", "name": "Intermittent proptosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intermittent exophthalmos"], "xref": ["DOID:12363", "ICD10CM:H05.25", "ICD9:376.34", "MEDGEN:509886", "SCTID:49774006", "UMLS:C0155270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001513", "name": "Pulsating exophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12364", "ICD10CM:H05.26", "ICD9:376.35", "MEDGEN:509887", "SCTID:2284002", "UMLS:C0155271", "icd11.foundation:1825207679"]}
{"category": ["biolink:Disease"], "description": "Prolapse of the urethral mucosa from the exterior urethral opening.", "id": "MONDO:0001514", "name": "Prolapse of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethrocele"], "xref": ["DOID:12369", "ICD10CM:N81.0", "ICD9:599.5", "ICD9:618.03", "MEDGEN:451007", "SCTID:12068006", "UMLS:C0238502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001515", "name": "Corneal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1237", "ICD10CM:H18.4", "ICD9:371.4", "ICD9:371.40", "ICD9:371.49", "MEDGEN:56352", "SCTID:111521006", "UMLS:C0155118", "icd11.foundation:699504167"]}
{"category": ["biolink:Disease"], "description": "A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0001516", "name": "Spinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:12377", "EFO:0008525", "GARD:0007674", "ICD9:335.1", "ICD9:335.10", "ICD9:335.19", "MEDGEN:7755", "MESH:D009134", "NANDO:1200003", "NANDO:2100231", "NANDO:2200853", "NCIT:C85075", "OMIMPS:253300", "SCTID:5262007", "UMLS:C0026847", "icd11.foundation:71074342"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.", "id": "MONDO:0001517", "name": "Dysentery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diarrheal disease, infectious", "dysenteric diarrhea", "dysenteric diarrhoea", "infectious diarrhea", "infectious diarrheal disease", "infectious diarrheal diseases", "infectious diarrhoea", "infective diarrhea", "infective diarrhoea"], "xref": ["DOID:12384", "EFO:1001869", "ICD9:009.2", "MEDGEN:3934", "MESH:D004403", "SCTID:111939009", "SCTID:19213003", "UMLS:C0013369"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001518", "name": "Spastic entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12395", "ICD9:374.03", "MEDGEN:509839", "SCTID:20828000", "UMLS:C0155190"]}
{"category": ["biolink:Disease"], "description": "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)", "id": "MONDO:0001519", "name": "Entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["entropion", "entropion (disease)"], "xref": ["DOID:12397", "HP:0000621", "ICD9:374.00", "MEDGEN:41813", "MESH:D004774", "SCTID:33168009", "UMLS:C0014390"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.", "id": "MONDO:0001520", "name": "Kleptomania", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["kleptomania", "pathological stealing"], "xref": ["DOID:12400", "ICD10CM:F63.2", "ICD9:312.32", "MEDGEN:5974", "NCIT:C94333", "SCTID:69361009", "UMLS:C0022734", "icd11.foundation:804604349"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.", "id": "MONDO:0001521", "name": "Intermittent explosive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12401", "ICD10CM:F63.81", "ICD9:301.3", "ICD9:312.34", "MEDGEN:7116", "NCIT:C94332", "SCTID:231527003", "UMLS:C0021776", "icd11.foundation:295017661"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.", "id": "MONDO:0001522", "name": "Pyromania", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["firesetting behaviour"], "xref": ["DOID:12402", "ICD10CM:F63.1", "ICD9:312.33", "MEDGEN:42028", "MESH:D005391", "NCIT:C94334", "SCTID:600009", "UMLS:C0016142", "icd11.foundation:1532500290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001523", "name": "Luxation of globe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1241", "ICD10CM:H44.82", "ICD9:360.81", "MEDGEN:509664", "SCTID:20842008", "UMLS:C0154806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001525", "name": "Thyrocalcitonin secretion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of thyrocalcitonin secretion"], "xref": ["DOID:12424", "ICD9:246.0", "MEDGEN:675237", "SCTID:190303007", "UMLS:C0701822"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the labia minora.", "id": "MONDO:0001526", "name": "Labia minora cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of labium minora", "labium minora cancer", "malignant labia minora neoplasm", "malignant labia minora tumor", "malignant labia minora tumour", "malignant labium minora neoplasm", "malignant neoplasm of labia minora", "malignant neoplasm of labium minora", "malignant neoplasm of labium minus", "malignant neoplasm of the labia minora", "malignant tumor of labia minora", "malignant tumor of the labia minora", "malignant tumour of labia minora", "malignant tumour of the labia minora"], "xref": ["DOID:1243", "GARD:0027580", "ICD10CM:C51.1", "ICD9:184.2", "MEDGEN:96921", "NCIT:C7637", "SCTID:363447008", "UMLS:C0496815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001527", "name": "Conjugate gaze palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["palsy of conjugate gaze"], "xref": ["DOID:12445", "ICD9:378.81", "MEDGEN:675273", "SCTID:1534008", "UMLS:C0702143"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the vulva.", "id": "MONDO:0001528", "name": "Vulva cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of mammalian vulva", "malignant mammalian vulva neoplasm", "malignant neoplasm of mammalian vulva", "malignant neoplasm of the vulva", "malignant neoplasm of vulva", "malignant neoplasm of vulva unspecified", "malignant neoplasm of vulva, unspecified", "malignant tumor of the vulva", "malignant tumor of vulva", "malignant tumour of the vulva", "malignant tumour of vulva", "malignant vulva neoplasm", "malignant vulva tumor", "malignant vulva tumour", "malignant vulvar neoplasm", "malignant vulvar tumor", "malignant vulvar tumour", "mammalian vulva cancer", "vulval cancer", "vulvar cancer"], "xref": ["DOID:1245", "GARD:0027581", "ICD10CM:C51", "ICD9:184.4", "MEDGEN:91196", "MESH:D014846", "NCIT:C7502", "SCTID:363367000", "UMLS:C0375071", "icd11.foundation:1530443809"]}
{"category": ["biolink:Disease"], "description": "A finding of low numbers of red and white blood cells and platelets in the peripheral blood.", "id": "MONDO:0001529", "name": "Pancytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12450", "ICD10CM:D61.81", "ICD9:284.1", "ICD9:284.89", "MEDGEN:18281", "MESH:D010198", "NCIT:C34889", "SCTID:127034005", "UMLS:C0030312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001530", "name": "Secondary hyperparathyroidism of renal origin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["secondary hyperparathyroidism (of renal origin)"], "xref": ["DOID:12465", "ICD10CM:N25.81", "ICD9:588.81", "MEDGEN:543606", "SCTID:19034001", "UMLS:C0271847", "icd11.foundation:610229783"]}
{"category": ["biolink:Disease"], "description": "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.", "id": "MONDO:0001531", "name": "Blood coagulation disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blood coagulation disorder", "coagulation defect", "coagulation disorder", "coagulation disorder, blood", "coagulation disorders, blood", "coagulopathy", "disorder, blood coagulation", "disorders, blood coagulation"], "xref": ["DOID:1247", "EFO:0009314", "ICD9:286", "ICD9:286.9", "ICD9:287.8", "MEDGEN:604", "MESH:D001778", "NCIT:C2902", "SCTID:64779008", "UMLS:C0005779"]}
{"category": ["biolink:Disease"], "description": "A infectious disease involving the Capillaria.", "id": "MONDO:0001532", "name": "Capillariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Capillaria infection"], "xref": ["DOID:12474", "ICD9:127.5", "MEDGEN:507518", "SCTID:52979002", "UMLS:C0006897", "icd11.foundation:839653996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001533", "name": "Pes anserinus tendinitis or bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12475", "ICD9:726.61", "MEDGEN:592819", "UMLS:C0410086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001534", "name": "Ocular hyperemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperemia eye", "hyperemia of conjunctiva"], "xref": ["DOID:1248", "MEDGEN:509827", "SCTID:359610006", "UMLS:C0155169"]}
{"category": ["biolink:Disease"], "description": "A disease involving the vagus nerve.", "id": "MONDO:0001535", "name": "Vagus nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Vagus nerve disorder", "disease of vagus nerve", "disease or disorder of vagus nerve", "disorder of pneumogastric [10th] nerve", "disorder of vagus nerve", "vagus nerve disease", "vagus nerve disease or disorder"], "xref": ["DOID:12491", "ICD9:352.3", "MEDGEN:101824", "MESH:D020421", "NCIT:C27591", "SCTID:73765005", "UMLS:C0152179"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0001536", "name": "Vaginal leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of the vagina", "leiomyoma of vagina", "vagina leiomyoma", "vaginal leiomyoma"], "xref": ["DOID:125", "MEDGEN:277859", "NCIT:C6373", "UMLS:C1336939"]}
{"category": ["biolink:Disease"], "description": "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.", "id": "MONDO:0001537", "name": "Tuberculous epididymitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:1251", "GARD:0022961", "ICD9:016.4", "ICD9:016.40", "ICD9:016.41", "ICD9:016.42", "ICD9:016.46", "MEDGEN:509077", "SCTID:83652003", "UMLS:C0152814", "icd11.foundation:1092166548"]}
{"category": ["biolink:Disease"], "description": "A ischemic disease that involves the retina.", "id": "MONDO:0001538", "name": "Retinal ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ischaemic disease of retina", "ischemic disease of retina", "retina ischaemic disease", "retina ischemic disease"], "xref": ["DOID:12510", "ICD10CM:H35.82", "ICD9:362.84", "MEDGEN:102372", "SCTID:26468004", "UMLS:C0162291"]}
{"category": ["biolink:Disease"], "description": "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.", "id": "MONDO:0001539", "name": "Retinal perforation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12514", "MEDGEN:48435", "MESH:D012167", "SCTID:232003005", "UMLS:C0035321"]}
{"category": ["biolink:Disease"], "description": "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.", "id": "MONDO:0001540", "name": "Bagassosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bagasse extrinsic allergic alveolitis", "bagasse workers lung", "extrinsic allergic alveolitis from bagasse"], "xref": ["DOID:12522", "GARD:0022962", "ICD10CM:J67.1", "ICD9:495.1", "MEDGEN:2539", "NCIT:C34409", "SCTID:67242002", "UMLS:C0004681", "icd11.foundation:1123061945"]}
{"category": ["biolink:Disease"], "description": "A peripheral nerve lesion that involves the plantar nerve.", "id": "MONDO:0001541", "name": "Plantar nerve lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lesion of plantar nerve", "peripheral nerve lesion of plantar nerve", "plantar nerve peripheral nerve lesion"], "xref": ["DOID:12524", "GARD:0022963", "ICD10CM:G57.6", "ICD9:355.6", "MEDGEN:509644", "SCTID:193148004", "UMLS:C0154752"]}
{"category": ["biolink:Disease"], "description": "A peripheral nerve lesion that involves the common fibular nerve.", "id": "MONDO:0001542", "name": "Common peroneal nerve lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["common fibular nerve peripheral nerve lesion", "peripheral nerve lesion of common fibular nerve"], "xref": ["DOID:12527", "GARD:0022964", "ICD9:355.3", "MEDGEN:543054", "SCTID:399107008", "UMLS:C0270909"]}
{"category": ["biolink:Disease"], "description": "A peripheral nerve lesion that involves the sciatic nerve.", "id": "MONDO:0001543", "name": "Lesion of sciatic nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["peripheral nerve lesion of sciatic nerve", "sciatic nerve peripheral nerve lesion"], "xref": ["DOID:12528", "GARD:0022965", "ICD10CM:G57.0", "ICD9:355.0", "MEDGEN:56346", "SCTID:367137004", "UMLS:C0154748", "icd11.foundation:1358497313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001544", "name": "Tibial nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:12529", "GARD:0022966", "ICD9:355.8", "MEDGEN:509643", "SCTID:365258000", "UMLS:C0154751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001546", "name": "Hypermobility of coccyx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12537", "ICD9:724.71", "MEDGEN:510502", "SCTID:202809009", "UMLS:C0158295", "icd11.foundation:588794167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001547", "name": "Atrophic nonflaccid tympanic membrane", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12546", "ICD10CM:H73.82", "ICD9:384.82", "MEDGEN:509983", "SCTID:72052003", "UMLS:C0155471"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)", "id": "MONDO:0001548", "name": "Hepatic coma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:12550", "GARD:0027582", "ICD9:070.42", "MEDGEN:6803", "SCTID:72836002", "UMLS:C0019147", "icd11.foundation:1021642894"]}
{"category": ["biolink:Disease"], "description": "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.", "id": "MONDO:0001549", "name": "Hemolytic-uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HUS", "hemolytic uremic syndrome"], "xref": ["DOID:12554", "GARD:0022233", "ICD10CM:D59.3", "ICD9:283.11", "MEDGEN:42403", "MESH:D006463", "NCIT:C75545", "Orphanet:544458", "SCTID:111407006", "UMLS:C0019061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001551", "name": "Ulceration of vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ulceration of vulva"], "xref": ["DOID:12566", "ICD10CM:N76.6", "ICD9:616.50", "ICD9:616.51", "MEDGEN:510247", "SCTID:68640004", "UMLS:C0156339"]}
{"category": ["biolink:Disease"], "description": "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.", "id": "MONDO:0001552", "name": "Dyscalculia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dyscalculia", "dyscalculia (disease)", "mathematics disorder"], "xref": ["DOID:12568", "HP:0002442", "ICD10CM:F81.2", "ICD9:315.1", "MEDGEN:452779", "MESH:D060705", "NCIT:C97165", "SCTID:47916000", "UMLS:C0869474", "icd11.foundation:308101648"]}
{"category": ["biolink:Disease"], "description": "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.", "id": "MONDO:0001553", "name": "Phacolytic glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12570", "ICD9:365.51", "MEDGEN:508901", "SCTID:32893002", "UMLS:C0152137", "icd11.foundation:1566213590"]}
{"category": ["biolink:Disease"], "description": "Secondary glaucoma caused by either excessive size or spheric shape of the lens.", "id": "MONDO:0001554", "name": "Phacogenic glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phacomorphic glaucoma"], "xref": ["DOID:12571", "ICD9:365.59", "MEDGEN:543189", "SCTID:392300000", "UMLS:C0271142"]}
{"category": ["biolink:Disease"], "description": "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.", "id": "MONDO:0001555", "name": "Neonatal thyrotoxicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infantile hyperthyroidism"], "xref": ["DOID:12573", "ICD9:775.3", "MEDGEN:510684", "NCIT:C114906", "SCTID:13795004", "UMLS:C0158983"]}
{"category": ["biolink:Disease"], "description": "Blockage of the normal flow of urine in the urethra.", "id": "MONDO:0001556", "name": "Urethral obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethral obstruction", "urethral obstruction (disease)"], "xref": ["DOID:12577", "HP:0000796", "ICD9:599.69", "MEDGEN:12015", "MESH:D014524", "SCTID:95588004", "UMLS:C0041972"]}
{"category": ["biolink:Disease"], "description": "A bursitis that involves the olecranon.", "id": "MONDO:0001557", "name": "Olecranon bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bursitis of olecranon", "elbow bursitis (& olecranon)", "olecranon bursitis"], "xref": ["DOID:12581", "ICD10CM:M70.2", "ICD9:726.33", "MEDGEN:538225", "SCTID:425940002", "UMLS:C0263962"]}
{"category": ["biolink:Disease"], "description": "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.", "id": "MONDO:0001558", "name": "Potter sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Potter syndrome", "Potter's sequence", "Potter's syndrome", "oligohydramnios sequence"], "xref": ["DOID:12594", "ICD10CM:Q60.6", "MEDGEN:472617", "NANDO:2200157", "NCIT:C40435", "SCTID:41962002", "UMLS:C0178426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001559", "name": "Perineocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12637", "ICD10CM:N81.81", "ICD9:618.05", "MEDGEN:1843478", "UMLS:C1456251"]}
{"category": ["biolink:Disease"], "description": "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.", "id": "MONDO:0001560", "name": "Hypertrophic pyloric stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IHPS", "congenital Hypertrophy of the pylorus", "congenital constriction of the pylorus", "congenital hypertrophic pyloric stenosis", "congenital pyloric stenosis", "congenital stricture of the pylorus", "infantile Hypertrophy of the pylorus", "infantile constriction of the pylorus", "infantile hypertrophic pyloric stenosis", "infantile pyloric stenosis", "infantile stricture of the pylorus", "pyloric stenosis, infantile"], "xref": ["DOID:12638", "EFO:0004707", "ICD10CM:Q40.0", "ICD9:750.5", "MESH:D046248", "NCIT:C98952", "SCTID:48644003"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.", "id": "MONDO:0001561", "name": "Pyloric stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GOO", "gastric outlet obstruction", "pyloric stenosis", "pyloric stenosis (disease)"], "xref": ["DOID:12639", "DOID:3122", "EFO:0009626", "HP:0002021", "MEDGEN:18780", "MESH:D011707", "MESH:D017219", "MedDRA:10062499", "NCIT:C34966", "SCTID:367403001", "UMLS:C0034194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001562", "name": "Displacement of cardia through esophageal hiatus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital hiatus hernia"], "xref": ["DOID:12641", "ICD10CM:Q40.1", "ICD9:750.6", "MEDGEN:510622", "SCTID:47028006", "UMLS:C0158674"]}
{"category": ["biolink:Disease"], "description": "A disease involving the vestibulocochlear nerve.", "id": "MONDO:0001563", "name": "Vestibulocochlear nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acoustic nerve disease", "acoustic nerve disorder", "acoustic nerve disorder NOS", "disease of vestibulocochlear nerve", "disease or disorder of vestibulocochlear nerve", "disorder of acoustic nerve", "disorder of vestibulocochlear nerve", "vestibulocochlear nerve disease", "vestibulocochlear nerve disease or disorder", "vestibulocochlear nerve disorder"], "xref": ["DOID:12657", "ICD9:388.5", "MEDGEN:1724", "MESH:D000160", "NCIT:C27207", "SCTID:77949003", "UMLS:C0001163"]}
{"category": ["biolink:Disease"], "description": "Any inability to efficiently utilize and/or sustain binocular vision.", "id": "MONDO:0001564", "name": "Binocular vision disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["binocular vision disorder"], "xref": ["DOID:12667", "EFO:0009535", "ICD9:368.30", "MEDGEN:571", "NCIT:C34422", "SCTID:83275001", "UMLS:C0005461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001565", "name": "Abnormal retinal correspondence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12668", "ICD10CM:H53.31", "ICD9:368.34", "MEDGEN:509763", "SCTID:79195003", "UMLS:C0155010", "icd11.foundation:119512999"]}
{"category": ["biolink:Disease"], "description": "Abnormally high concentration of calcium in the peripheral blood.", "id": "MONDO:0001566", "name": "Hypercalcemia disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypercalcemia"], "xref": ["DOID:12678", "HP:0003072", "ICD10CM:E83.52", "ICD9:275.42", "MEDGEN:5686", "MESH:D006934", "NCIT:C3112", "SCTID:66931009", "UMLS:C0020437"]}
{"category": ["biolink:Disease"], "description": "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.", "id": "MONDO:0001567", "name": "Nephrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "xref": ["DOID:12679", "ICD9:275.49", "MEDGEN:10222", "MESH:D009397", "NCIT:C84918", "SCTID:48638002", "UMLS:C0027709", "icd11.foundation:1359282431"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).", "id": "MONDO:0001568", "name": "Mixed receptive-expressive language disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12685", "ICD10CM:F80.2", "ICD9:315.32", "MEDGEN:452301", "NCIT:C92563", "SCTID:25766007", "UMLS:C0236827"]}
{"category": ["biolink:Disease"], "description": "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.", "id": "MONDO:0001569", "name": "Acoustic neuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["acoustic neurilemmoma", "acoustic neurilemoma", "acoustic neurinoma", "acoustic neuroma", "acoustic schwannoma", "neurilemoma, acoustic", "neurinoma of the acoustic nerve", "neuroma, acoustic", "vestibular neurilemmoma", "vestibular schwannoma", "vestibular schwannoma (disease)"], "xref": ["CSP:2012-6947", "DOID:12689", "GARD:0000223", "HP:0009588", "MEDGEN:45062", "MESH:D009464", "MedDRA:10000523", "NCIT:C3276", "NORD:715", "Orphanet:252175", "SCTID:126949007", "UMLS:C0027859", "icd11.foundation:480288993"]}
{"category": ["biolink:Disease"], "description": "Development of breast tissue in males.", "id": "MONDO:0001571", "name": "Gynecomastia disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertrophy of breast of male organism", "male organism hypertrophy of breast"], "xref": ["DOID:12698", "HP:0000771", "MEDGEN:6694", "MESH:D006177", "NCIT:C3073", "SCTID:4754008", "UMLS:C0018418"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0001572", "name": "Leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroid", "fibroid neoplasm", "fibroid tumor", "fibroid tumour", "leiomyoma, benign", "leiomyomatous neoplasm (morphologic abnormality)", "leiomyomatous tumour"], "xref": ["DOID:127", "ICD9:215.9", "ICDO:8890/0", "MEDGEN:9710", "MESH:D007889", "NCIT:C3157", "SCTID:146801000119103", "UMLS:C0023267"]}
{"category": ["biolink:Disease"], "description": "A disease involving a capillary.", "id": "MONDO:0001574", "name": "Capillary disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["capillary disease", "capillary disease or disorder", "disease of capillary", "disease or disorder of capillary", "disorder of capillary"], "xref": ["DOID:1271", "ICD9:448", "ICD9:448.9", "MEDGEN:510074", "SCTID:58729003", "UMLS:C0155765"]}
{"category": ["biolink:Disease"], "description": "Chronic form of gonococcal salpingitis.", "id": "MONDO:0001575", "name": "Chronic gonococcal salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonococcal salpingitis, chronic"], "xref": ["DOID:12718", "ICD9:098.37", "MEDGEN:509205", "SCTID:53529004", "UMLS:C0153208", "icd11.foundation:1233448408"]}
{"category": ["biolink:Disease"], "description": "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.", "id": "MONDO:0001576", "name": "Telangiectasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["telangiectasia"], "xref": ["DOID:1272", "MEDGEN:21088", "MESH:D013684", "NCIT:C28194", "SCTID:247479008", "UMLS:C0039446"]}
{"category": ["biolink:Disease"], "description": "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.", "id": "MONDO:0001577", "name": "Respiratory syncytial virus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Human respiratory syncytial virus infection", "respiratory syncytial virus infection"], "xref": ["DOID:1273", "EFO:1001413", "MEDGEN:48424", "MESH:D018357", "NCIT:C3354", "SCTID:55735004", "UMLS:C0035235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001579", "name": "Corneal staphyloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12753", "ICD10CM:H18.72", "ICD9:371.73", "MEDGEN:509034", "SCTID:52476003", "UMLS:C0152440", "icd11.foundation:212928655"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the lacrimal duct.", "id": "MONDO:0001580", "name": "Lacrimal duct cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of lacrimal drainage system", "lacrimal drainage system cancer", "malignant lacrimal drainage system neoplasm", "malignant lacrimal duct neoplasm", "malignant lacrimal duct tumor", "malignant lacrimal duct tumour", "malignant neoplasm of lacrimal drainage system", "malignant neoplasm of lacrimal duct", "malignant neoplasm of the lacrimal duct", "malignant tumor of lacrimal duct", "malignant tumor of the lacrimal duct", "malignant tumour of lacrimal duct", "malignant tumour of the lacrimal duct"], "xref": ["DOID:12756", "ICD9:190.7", "MEDGEN:57795", "NCIT:C175319", "NCIT:C3567", "SCTID:188274004", "UMLS:C0153631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001582", "name": "Cicatricial ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12782", "ICD9:374.14", "MEDGEN:102327", "SCTID:28914006", "UMLS:C0155196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001583", "name": "Diabetic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyneuropathy in diabetes"], "xref": ["DOID:12785", "ICD9:357.2", "MEDGEN:75763", "SCTID:49455004", "UMLS:C0271680", "icd11.foundation:1837670870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001584", "name": "Ocular motility disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1279", "EFO:1001990", "ICD9:378.9", "MEDGEN:14457", "SCTID:45030009", "UMLS:C0028850"]}
{"category": ["biolink:Disease"], "description": "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.", "id": "MONDO:0001585", "name": "Hallucinogen abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12797", "ICD10CM:F16.1", "ICD9:305.3", "MEDGEN:507771", "SCTID:74851005", "UMLS:C0018526"]}
{"category": ["biolink:Disease"], "description": "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).", "id": "MONDO:0001586", "name": "Mucopolysaccharidosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-L-iduronidase deficiency", "MPS1", "MPSI", "Mucopolysaccharidosis Type I", "lipochondrodystrophy", "mucopolysaccharidosis type 1", "mucopolysaccharidosis type I"], "xref": ["DOID:12802", "GARD:0010335", "MEDGEN:44171", "MedDRA:10056886", "NANDO:2200547", "NANDO:2201168", "NCIT:C85053", "NORD:1462", "Orphanet:579", "SCTID:75610003", "UMLS:C0023786", "icd11.foundation:1539226250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001588", "name": "Chronic lacrimal gland enlargement", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic enlargement of lacrimal gland"], "xref": ["DOID:12809", "ICD10CM:H04.03", "ICD9:375.03", "MEDGEN:721929", "SCTID:4839005", "UMLS:C1300133"]}
{"category": ["biolink:Disease"], "description": "Paralysis of all four limbs.", "id": "MONDO:0001590", "name": "Quadriplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bilateral diplegia", "tetraplegia"], "xref": ["DOID:12835", "EFO:0009684", "ICD10CM:G82.5", "ICD9:344.00", "ICD9:344.09", "MEDGEN:19617", "MESH:D011782", "NCIT:C50721", "SCTID:11538006", "UMLS:C0034372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001591", "name": "Senile entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12836", "ICD9:374.01", "MEDGEN:509837", "SCTID:55408009", "UMLS:C0155188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001592", "name": "Prolapse of female genital organ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1284", "ICD10CM:N81", "ICD9:618.8", "ICD9:618.89", "MEDGEN:510253", "SCTID:73998008", "UMLS:C0156349"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the rectum.", "id": "MONDO:0001593", "name": "Rectal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of rectum", "disease or disorder of rectum", "disorder of rectum", "rectal disorder", "rectum disease", "rectum disease or disorder"], "xref": ["DOID:1285", "EFO:0009685", "ICD9:569.49", "MEDGEN:19701", "MESH:D012002", "SCTID:5964004", "UMLS:C0034882"]}
{"category": ["biolink:Disease"], "description": "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.", "id": "MONDO:0001594", "name": "Achilles bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Achilles bursitis or tendinitis", "capped hock"], "xref": ["DOID:12857", "ICD9:726.71", "MEDGEN:508442", "UMLS:C0149846", "icd11.foundation:426746156"]}
{"category": ["biolink:Disease"], "description": "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.", "id": "MONDO:0001595", "name": "Choreatic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["benign familial chorea"], "xref": ["DOID:12859", "EFO:0004152", "GARD:0015152", "HP:0002072", "ICD9:333.5", "MEDGEN:3420", "MESH:D002819", "NCIT:C84633", "Orphanet:1429", "SCTID:230298007", "SCTID:230306001", "UMLS:C0008489", "icd11.foundation:829618737"]}
{"category": ["biolink:Disease"], "description": "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.", "id": "MONDO:0001596", "name": "Hypochondriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypochondria", "hypochondriacal disorder", "hypochondriacal neurosis"], "xref": ["DOID:12883", "ICD10CM:F45.21", "ICD9:300.7", "MEDGEN:9382", "MESH:D006998", "SCTID:18193002", "UMLS:C0020604", "icd11.foundation:675329566"]}
{"category": ["biolink:Disease"], "description": "A disease involving the submandibular gland.", "id": "MONDO:0001597", "name": "Submandibular gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of submandibular gland", "disease or disorder of submandibular gland", "disorder of submandibular gland", "submandibular gland disease", "submandibular gland disease or disorder"], "xref": ["DOID:12897", "MEDGEN:52535", "MESH:D013364", "UMLS:C0038557"]}
{"category": ["biolink:Disease"], "description": "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.", "id": "MONDO:0001598", "name": "Benign lymphoepithelial lesion of salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Godwin tumor", "Godwin tumour", "benign lymphoepithelial lesion of salivary gland"], "xref": ["DOID:12899", "ICD9:527.8", "MEDGEN:120595", "NCIT:C3949", "SCTID:45517002", "UMLS:C0266995", "icd11.foundation:1330363110"]}
{"category": ["biolink:Disease"], "description": "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.", "id": "MONDO:0001600", "name": "Mucocele of salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mucous retention cyst of salivary gland", "ranula", "salivary cyst", "salivary gland mucocele"], "xref": ["DOID:12904", "ICD10CM:K11.6", "ICD9:527.6", "MEDGEN:10117", "MESH:D011900", "SCTID:69825009", "UMLS:C0026686", "icd11.foundation:48444833"]}
{"category": ["biolink:Disease"], "description": "An malaria caused by infection with Plasmodium ovale.", "id": "MONDO:0001601", "name": "Plasmodium ovale malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:12919", "GARD:0022970", "ICD10CM:B53.0", "ICD9:084.3", "MEDGEN:508870", "SCTID:19341001", "UMLS:C0152072"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the labia minora.", "id": "MONDO:0001602", "name": "Labia minora carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of labia minora", "carcinoma of labium minora", "carcinoma of the labia minora", "labia minora carcinoma", "labium minora carcinoma"], "xref": ["DOID:1293", "GARD:0022971", "MEDGEN:233605", "NCIT:C9364", "UMLS:C1334357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001603", "name": "Paralytic lagophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paralytic lagophthalmos", "paralytic lagophthalmos (disease)"], "xref": ["DOID:12958", "HP:0030003", "ICD10CM:H02.23", "ICD9:374.21", "MEDGEN:509844", "UMLS:C0155197", "icd11.foundation:2122617367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001604", "name": "Lagophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12959", "ICD10CM:H02.2", "ICD9:374.2", "ICD9:374.20", "MEDGEN:57517", "SCTID:60735000", "UMLS:C0152226", "icd11.foundation:1200365909"]}
{"category": ["biolink:Disease"], "description": "Leukemia infiltrating the central nervous system structures.", "id": "MONDO:0001606", "name": "Central nervous system leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS leukaemia", "CNS leukemia", "central nervous system leukaemia (disease)", "central nervous system leukemia", "central nervous system leukemia (disease)", "leukaemia (disease) of central nervous system", "leukaemia of CNS", "leukaemia of central nervous system", "leukaemia of the CNS", "leukaemia of the central nervous system", "leukemia (disease) of central nervous system", "leukemia of CNS", "leukemia of central nervous system", "leukemia of the CNS", "leukemia of the central nervous system"], "xref": ["DOID:12969", "GARD:0022972", "MEDGEN:234102", "NCIT:C5440", "UMLS:C1332884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001607", "name": "Intrapelvic lymph node leukemic reticuloendotheliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leukemic reticuloendotheliosis involving intrapelvic lymph nodes"], "xref": ["DOID:12972", "GARD:0022973", "ICD9:202.46", "MEDGEN:509467", "SCTID:93145002", "UMLS:C0153831"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a vagus nerve.", "id": "MONDO:0001608", "name": "Vagus nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Vagus nerve neoplasm", "Vagus nerve neoplasms", "Vagus nerve tumor", "Vagus nerve tumors", "Vagus nerve tumour", "Vagus nerve tumours", "Xth cranial nerve neoplasms", "Xth cranial nerve tumors", "Xth cranial nerve tumours", "neoplasm of Vagus nerve", "neoplasm of tenth cranial nerve", "neoplasm of the Vagus nerve", "neoplasm of the tenth cranial nerve", "neoplasm of vagus nerve", "tenth cranial nerve neoplasm", "tenth cranial nerve neoplasms", "tenth cranial nerve tumor", "tenth cranial nerve tumors", "tenth cranial nerve tumour", "tenth cranial nerve tumours", "tumor of Vagus nerve", "tumor of tenth cranial nerve", "tumor of the Vagus nerve", "tumor of the tenth cranial nerve", "tumor of vagus nerve", "tumour of Vagus nerve", "tumour of tenth cranial nerve", "tumour of the Vagus nerve", "tumour of the tenth cranial nerve", "tumour of vagus nerve", "vagus nerve neoplasm (disease)", "vagus nerve tumor", "vagus nerve tumour"], "xref": ["DOID:12984", "ICD9:239.7", "MEDGEN:224735", "NCIT:C5831", "SCTID:126976007", "UMLS:C1263901"]}
{"category": ["biolink:Disease"], "description": "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.", "id": "MONDO:0001609", "name": "Agranulocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["granulocytopenia"], "xref": ["DOID:12987", "ICD10CM:D70", "ICD10WHO:D70", "ICD9:288.8", "MEDGEN:7932", "MESH:D000380", "NCIT:C2863", "SCTID:417672002", "UMLS:C0001824", "icd11.foundation:1913706366"]}
{"category": ["biolink:Disease"], "description": "Acute form of dacryocystitis.", "id": "MONDO:0001610", "name": "Acute dacryocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dacryocystitis, acute"], "xref": ["DOID:12996", "ICD10CM:H04.32", "ICD9:375.32", "MEDGEN:509863", "SCTID:25470000", "UMLS:C0155237", "icd11.foundation:743890238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001611", "name": "Phlegmonous dacryocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12997", "ICD10CM:H04.31", "ICD9:375.33", "MEDGEN:509864", "SCTID:64324003", "UMLS:C0155238"]}
{"category": ["biolink:Disease"], "description": "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.", "id": "MONDO:0001612", "name": "Carotid stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carotid artery stenosis"], "xref": ["DOID:13001", "HP:0100546", "ICD9:433.10", "MEDGEN:785", "MESH:D016893", "NCIT:C95804", "SCTID:64586002", "UMLS:C0007282"]}
{"category": ["biolink:Disease"], "description": "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.", "id": "MONDO:0001613", "name": "Vertebrobasilar insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vertebrobasilar arterial insufficiency", "vertebrobasilar artery syndrome", "vertebrobasilar insufficiency"], "xref": ["DOID:13003", "EFO:1001449", "ICD9:435.3", "MEDGEN:12075", "MESH:D014715", "SCTID:195199008", "UMLS:C0042568", "icd11.foundation:1570524591"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001614", "name": "Intra-abdominal lymph node mast cell malignancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant mast cell tumors involving intra-abdominal lymph nodes", "malignant mast cell tumours involving intra-abdominal lymph nodes"], "xref": ["DOID:13005", "GARD:0022974", "ICD9:202.63", "MEDGEN:509471", "SCTID:188664008", "UMLS:C0153844"]}
{"category": ["biolink:Disease"], "description": "Keratoconjunctivitis resulting from infection by adenoviruses.", "id": "MONDO:0001615", "name": "Epidemic keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["shipyard eye"], "xref": ["DOID:13014", "GARD:0022975", "ICD10CM:B30.0", "ICD9:077.1", "MEDGEN:4500", "NCIT:C34590", "SCTID:60548004", "UMLS:C0014493", "icd11.foundation:972253332"]}
{"category": ["biolink:Disease"], "description": "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.", "id": "MONDO:0001616", "name": "Lobomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13026", "EFO:1001805", "ICD10CM:B48.0", "ICD9:116.2", "MEDGEN:452127", "MESH:D060368", "SCTID:47306003", "UMLS:C0152066", "icd11.foundation:566562143"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.", "id": "MONDO:0001617", "name": "Transient global amnesia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["transient global amnesia", "transient global amnesia (disease)"], "xref": ["DOID:13027", "GARD:0027583", "HP:0010534", "ICD10CM:G45.4", "ICD9:437.7", "MEDGEN:83275", "MESH:D020236", "NCIT:C85198", "UMLS:C0338591", "icd11.foundation:1524600518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001618", "name": "Balanoposthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13031", "ICD10CM:N47.6", "ICD9:607.1", "MEDGEN:507475", "SCTID:46090001", "UMLS:C0004691", "icd11.foundation:1742248014"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.", "id": "MONDO:0001620", "name": "Louse-borne relapsing fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Relapsing fever, louse-borne"], "xref": ["DOID:13035", "GARD:0022976", "ICD10CM:A68.0", "ICD9:087.0", "MEDGEN:508863", "NCIT:C128426", "SCTID:14683004", "UMLS:C0152061", "icd11.foundation:1379934125"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.", "id": "MONDO:0001621", "name": "Tick-borne relapsing fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Relapsing fever, tick-borne"], "xref": ["DOID:13036", "GARD:0022977", "ICD10CM:A68.1", "ICD9:087.1", "MEDGEN:20515", "NCIT:C34976", "SCTID:10301003", "UMLS:C0035022", "icd11.foundation:923521593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001622", "name": "Mechanical lagophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13037", "ICD10CM:H02.22", "ICD9:374.22", "MEDGEN:509845", "SCTID:21783006", "UMLS:C0155198", "icd11.foundation:466575235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001623", "name": "Cicatricial lagophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cicatricial lagophthalmos", "cicatricial lagophthalmos (disease)"], "xref": ["DOID:13038", "HP:0030004", "ICD10CM:H02.21", "ICD9:374.23", "MEDGEN:509846", "UMLS:C0155199", "icd11.foundation:1868697470"]}
{"category": ["biolink:Disease"], "description": "Acute form of sphenoid sinusitis.", "id": "MONDO:0001624", "name": "Acute sphenoidal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute sphenoid sinusitis", "sphenoid sinusitis, acute"], "xref": ["DOID:13046", "ICD10CM:J01.3", "ICD9:461.3", "MEDGEN:510089", "SCTID:77919000", "UMLS:C0155807", "icd11.foundation:348880565"]}
{"category": ["biolink:Disease"], "description": "A ovarian cyst (disease) that involves the corpus luteum.", "id": "MONDO:0001625", "name": "Corpus luteum cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["corpus luteum ovarian cyst (disease)", "ovarian cyst (disease) of corpus luteum"], "xref": ["DOID:13050", "ICD10CM:N83.1", "ICD9:620.1", "MEDGEN:1142", "SCTID:386762009", "UMLS:C0010093", "icd11.foundation:753201214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001626", "name": "Traumatic glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glaucoma associated with ocular trauma"], "xref": ["DOID:13060", "ICD9:365.65", "MEDGEN:573251", "SCTID:68241007", "UMLS:C0339594"]}
{"category": ["biolink:Disease"], "description": "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.", "id": "MONDO:0001627", "name": "Dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dementia", "dementia (disease)"], "xref": ["DOID:1307", "HP:0000726", "ICD10CM:F02", "ICD9:290.8", "ICD9:294.1", "ICD9:294.8", "MEDGEN:99229", "MESH:D003704", "NCIT:C4786", "SCTID:52448006", "UMLS:C0497327", "icd11.foundation:1468768235", "icd11.foundation:546689346"]}
{"category": ["biolink:Disease"], "description": "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.", "id": "MONDO:0001628", "name": "Tinea unguium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatophytic onychia", "dermatophytosis of nail", "nail dermatophytosis", "onychomycosis", "tinea unguium"], "xref": ["DOID:13074", "ICD10CM:B35.1", "ICD9:681.9", "MEDGEN:11825", "MESH:D014009", "NCIT:C112214", "UMLS:C0040261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001629", "name": "Jaccoud syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Jaccoud's syndrome"], "xref": ["DOID:13080", "ICD9:714.4", "MEDGEN:508877", "SCTID:84801008", "UMLS:C0152084"]}
{"category": ["biolink:Disease"], "description": "An occlusion of a branch of the retinal artery.", "id": "MONDO:0001630", "name": "Branch retinal artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinal arterial branch occlusion"], "xref": ["DOID:13094", "ICD9:362.32", "MEDGEN:14217", "NCIT:C34436", "SCTID:50821009", "UMLS:C0006123"]}
{"category": ["biolink:Disease"], "description": "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.", "id": "MONDO:0001631", "name": "Vertebral artery insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vertebral artery syndrome"], "xref": ["DOID:13095", "ICD9:435.1", "MEDGEN:22638", "NCIT:C35123", "SCTID:34781003", "UMLS:C0042560", "icd11.foundation:1541569386"]}
{"category": ["biolink:Disease"], "description": "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.", "id": "MONDO:0001632", "name": "Intracranial arteriosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13097", "MEDGEN:3319", "MESH:D002537", "UMLS:C0007771"]}
{"category": ["biolink:Disease"], "description": "Blockage of the central retinal artery.", "id": "MONDO:0001633", "name": "Central retinal artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["central retinal arterial occlusion"], "xref": ["DOID:13098", "GARD:0022978", "ICD10CM:H34.1", "ICD9:362.31", "MEDGEN:40177", "NCIT:C34456", "Orphanet:648684", "SCTID:38742007", "UMLS:C0007688", "icd11.foundation:613330234"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0001634", "name": "Bladder leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder leiomyoma", "leiomyoma of bladder", "leiomyoma of the bladder", "leiomyoma of the urinary bladder", "leiomyoma of urinary bladder", "urinary bladder leiomyoma"], "xref": ["DOID:13109", "MEDGEN:272371", "NCIT:C6178", "UMLS:C1332560"]}
{"category": ["biolink:Disease"], "description": "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.", "id": "MONDO:0001635", "name": "Bladder squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder squamous papilloma"], "xref": ["DOID:13110", "MEDGEN:267742", "NCIT:C39834", "UMLS:C1511199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001636", "name": "Mechanical entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13112", "ICD9:374.02", "MEDGEN:509838", "SCTID:38683003", "UMLS:C0155189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001637", "name": "Cicatricial entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13113", "ICD9:374.04", "MEDGEN:509840", "SCTID:67383002", "UMLS:C0155191"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001638", "name": "Protein-deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anaemia due to protein deficiency"], "xref": ["DOID:13120", "GARD:0022979", "ICD10CM:D53.0", "ICD9:281.4", "MEDGEN:509568", "SCTID:191156009", "UMLS:C0154290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001639", "name": "Deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["deficiency anemias", "unspecified deficiency anaemia", "unspecified deficiency anemia"], "xref": ["DOID:13121", "GARD:0022980", "ICD9:281.8", "ICD9:281.9", "MEDGEN:508256", "SCTID:267513007", "UMLS:C0041782"]}
{"category": ["biolink:Disease"], "description": "An spondylitis caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0001640", "name": "Gonococcal spondylitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13127", "ICD9:098.53", "MEDGEN:509212", "SCTID:53664003", "UMLS:C0153219", "icd11.foundation:1439203351"]}
{"category": ["biolink:Disease"], "description": "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.", "id": "MONDO:0001641", "name": "Severe pre-eclampsia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Preeclampsia with severe features", "severe preeclampsia"], "xref": ["DOID:13129", "GARD:0022981", "ICD10CM:O14.1", "ICD9:642.50", "MEDGEN:574734", "NCIT:C112843", "UMLS:C0341950", "icd11.foundation:479404771"]}
{"category": ["biolink:Disease"], "description": "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.", "id": "MONDO:0001642", "name": "Hordeolum externum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13134", "ICD10CM:H00.01", "ICD9:373.11", "MEDGEN:5613", "SCTID:1489008", "UMLS:C0019919", "icd11.foundation:522397394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001643", "name": "Exophthalmic ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13135", "ICD9:376.22", "MEDGEN:508900", "SCTID:69763009", "UMLS:C0152135"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.", "id": "MONDO:0001644", "name": "Acute proliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acute glomerulonephritis with lesion of proliferative glomerulonephritis", "post-streptococcal glomerulonephritis", "proliferative glomerulonephritis, acute"], "xref": ["DOID:13138", "GARD:0022982", "ICD9:580.0", "MEDGEN:574582", "NCIT:C35443", "SCTID:197579006", "UMLS:C0341692"]}
{"category": ["biolink:Disease"], "description": "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.", "id": "MONDO:0001645", "name": "Crescentic glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["crescentic glomerulonephritis", "crescentic glomerulonephritis (disease)"], "xref": ["DOID:13139", "GARD:0022983", "HP:0008653", "ICD9:580.4", "MEDGEN:96040", "NANDO:1200714", "NANDO:1200723", "NCIT:C35444", "SCTID:236398000", "UMLS:C0403416"]}
{"category": ["biolink:Disease"], "description": "Mild to moderate high blood pressure that is caused by an underlying medical condition.", "id": "MONDO:0001646", "name": "Benign secondary hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13143", "ICD9:405.1", "ICD9:405.19", "MEDGEN:57610", "SCTID:194785008", "UMLS:C0155620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001647", "name": "Benign renovascular hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13145", "ICD9:405.11", "MEDGEN:1843496", "UMLS:C0155621", "icd11.foundation:1396824741"]}
{"category": ["biolink:Disease"], "description": "Esophagitis resulting from Candida.", "id": "MONDO:0001648", "name": "Esophageal candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Candida esophagitis", "candidal esophagitis", "candidiasis of the esophagus", "candidiasis of the oesophagus"], "xref": ["DOID:13146", "ICD10CM:B37.81", "ICD9:112.84", "MEDGEN:66784", "NCIT:C27027", "SCTID:20639004", "UMLS:C0239295"]}
{"category": ["biolink:Disease"], "description": "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.", "id": "MONDO:0001649", "name": "Fungal esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fungal esophagitis"], "xref": ["DOID:13147", "ICD9:117.9", "MEDGEN:90960", "NCIT:C27107", "SCTID:235602008", "UMLS:C0341109"]}
{"category": ["biolink:Disease"], "description": "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.", "id": "MONDO:0001650", "name": "Acute cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute cystitis", "acute cystitis (disease)", "cystitis, acute"], "xref": ["DOID:13148", "ICD10CM:N30.0", "ICD9:595.0", "MEDGEN:57429", "NCIT:C26934", "SCTID:68226007", "UMLS:C0149523"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.", "id": "MONDO:0001651", "name": "Scrotum squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["scrotal squamous cell carcinoma", "scrotum squamous cell carcinoma", "squamous cell carcinoma of the scrotum"], "xref": ["DOID:13159", "MEDGEN:138101", "NCIT:C4643", "SCTID:276860003", "UMLS:C0349551"]}
{"category": ["biolink:Disease"], "description": "A melanoma (disease) that involves the scrotum.", "id": "MONDO:0001652", "name": "Scrotum melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["melanoma (disease) of scrotum", "melanoma of scrotum", "melanoma of the scrotum", "scrotal melanoma", "scrotum melanoma (disease)"], "xref": ["DOID:13160", "MEDGEN:233100", "NCIT:C7361", "UMLS:C1331544"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the prepuce.", "id": "MONDO:0001653", "name": "Prepuce cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of prepuce", "malignant neoplasm of foreskin", "malignant neoplasm of prepuce", "malignant prepuce neoplasm", "malignant tumour of foreskin", "prepuce cancer"], "xref": ["DOID:13168", "ICD10CM:C60.0", "ICD9:187.1", "MEDGEN:509336", "NCIT:C194356", "SCTID:363450006", "UMLS:C0153598", "icd11.foundation:272011035"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the spermatic cord.", "id": "MONDO:0001654", "name": "Spermatic cord cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of spermatic cord", "malignant neoplasm of spermatic cord", "malignant neoplasm of the spermatic cord", "malignant spermatic cord neoplasm", "malignant spermatic cord tumor", "malignant spermatic cord tumour", "malignant tumor of spermatic cord", "malignant tumor of the spermatic cord", "malignant tumour of spermatic cord", "malignant tumour of the spermatic cord", "spermatic cord cancer"], "xref": ["DOID:13169", "ICD10CM:C63.1", "ICD9:187.6", "MEDGEN:102278", "NCIT:C3559", "SCTID:363453008", "UMLS:C0153603", "icd11.foundation:464224926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001655", "name": "Dissociated nystagmus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dissociated nystagmus"], "xref": ["DOID:13174", "ICD10CM:H55.04", "ICD9:379.55", "MEDGEN:56362", "SCTID:9520006", "UMLS:C0155380", "icd11.foundation:50035755"]}
{"category": ["biolink:Disease"], "description": "An abnormal dilation of the esophagus not due to obstruction.", "id": "MONDO:0001656", "name": "Megaesophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13186", "MEDGEN:6286", "NCIT:C34811", "SCTID:70667005", "UMLS:C0025164"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the brain.", "id": "MONDO:0001657", "name": "Brain cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brain cancer", "brain neoplasms, malignant", "cancer of brain", "cancer of the brain", "malignant brain neoplasm", "malignant brain tumor", "malignant neoplasm of brain", "malignant neoplasm of the brain", "malignant tumor of brain", "malignant tumor of the brain", "malignant tumour of brain", "malignant tumour of the brain"], "xref": ["CSP:2006-2736", "DOID:1319", "GARD:0027584", "ICD10CM:C71", "ICD9:191", "ICD9:191.8", "ICD9:191.9", "ICD9:239.6", "MEDGEN:57796", "MESH:D001932", "NCIT:C3568", "SCTID:428061005", "UMLS:C0153633", "icd11.foundation:189650925"]}
{"category": ["biolink:Disease"], "description": "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.", "id": "MONDO:0001658", "name": "Nontoxic goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["euthyroid goiter", "euthyroid goitre", "non-toxic goiter", "non-toxic simple goiter", "nontoxic goiter"], "xref": ["DOID:13195", "MEDGEN:113172", "NCIT:C35271", "UMLS:C0221777"]}
{"category": ["biolink:Disease"], "description": "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.", "id": "MONDO:0001660", "name": "Proliferative diabetic retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13207", "EFO:0009322", "ICD9:362.02", "MEDGEN:56347", "NCIT:C84457", "SCTID:59276001", "UMLS:C0154830", "icd11.foundation:348602398"]}
{"category": ["biolink:Disease"], "description": "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.", "id": "MONDO:0001661", "name": "Background diabetic retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-proliferative diabetic retinopathy"], "xref": ["DOID:13208", "ICD9:362.01", "ICD9:362.03", "MEDGEN:2531", "NCIT:C35668", "SCTID:390834004", "UMLS:C0004606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001663", "name": "Hole retinal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macular cyst, hole, or pseudohole of retina"], "xref": ["DOID:13214", "ICD9:362.54", "MEDGEN:687835", "SCTID:1079004", "UMLS:C1261331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001664", "name": "Submucous uterine fibroid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["submucous leiomyoma of uterus"], "xref": ["DOID:13222", "GARD:0022984", "ICD10CM:D25.0", "ICD9:218.0", "MEDGEN:509501", "SCTID:95279007", "UMLS:C0153993"]}
{"category": ["biolink:Disease"], "description": "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.", "id": "MONDO:0001665", "name": "Oculoglandular tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13226", "GARD:0022985", "ICD10CM:A21.1", "ICD9:021.3", "MEDGEN:509089", "SCTID:73363000", "UMLS:C0152944"]}
{"category": ["biolink:Disease"], "description": "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.", "id": "MONDO:0001666", "name": "Retinal dystrophies primarily involving bruch's membrane", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bruch's membrane inherited retinal dystrophy", "inherited retinal dystrophy of Bruch's membrane"], "xref": ["DOID:13227", "GARD:0022986", "ICD9:362.77", "MEDGEN:1720702", "UMLS:C0154866"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001667", "name": "Streptobacillus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infection caused by streptobacillus"], "xref": ["MEDGEN:923114", "SCTID:721738002", "UMLS:C0947939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001668", "name": "Internal pathological resorption of tooth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["internal pathologic resorption", "internal resorption of tooth"], "xref": ["DOID:13239", "ICD9:521.41", "MEDGEN:540237", "SCTID:52994003", "UMLS:C0266880"]}
{"category": ["biolink:Disease"], "description": "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)", "id": "MONDO:0001670", "name": "Tooth resorption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13240", "ICD9:521.4", "MEDGEN:21587", "MESH:D014091", "SCTID:70931000", "UMLS:C0040451"]}
{"category": ["biolink:Disease"], "description": "Accumulation of mucus within the appendix.", "id": "MONDO:0001671", "name": "Mucocele of appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["appendiceal mucocele", "mucocele of the appendix"], "xref": ["DOID:13248", "ICD9:543.9", "MEDGEN:10116", "NCIT:C3241", "SCTID:53773002", "UMLS:C0026684", "icd11.foundation:159513245"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the bronchus", "id": "MONDO:0001672", "name": "Bronchus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchus cancer", "cancer of bronchus", "malignant bronchus neoplasm", "malignant neoplasm of bronchus"], "xref": ["DOID:1325", "ICD9:162.8", "ICD9:162.9", "MEDGEN:730206", "NCIT:C156885", "SCTID:363493006", "UMLS:C1322284", "icd11.foundation:1501594633"]}
{"category": ["biolink:Disease"], "description": "The condition of having at least three loose or liquid bowel movements each day.", "id": "MONDO:0001673", "name": "Diarrheal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diarrhea", "diarrheal disease", "diarrheal disorder", "diarrhoea", "frequent stools", "loose stools"], "xref": ["DOID:13250", "HP:0002014", "ICD9:009.2", "MEDGEN:713159", "MESH:D003967", "NCIT:C2987", "SCTID:128333008", "UMLS:C1290807", "icd11.foundation:116759077"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.", "id": "MONDO:0001674", "name": "Diverticulitis of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon diverticulitis"], "xref": ["DOID:13254", "ICD9:562.11", "ICD9:562.12", "MEDGEN:3877", "MESH:D004239", "SCTID:111359004", "UMLS:C0012814"]}
{"category": ["biolink:Disease"], "description": "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.", "id": "MONDO:0001676", "name": "Erythropoietic protoporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["EPP (erythropoietic protoporphyria porphyria)"], "xref": ["DOID:13270", "GARD:0007476", "MEDGEN:56455", "MESH:D046351", "NANDO:1200815", "NANDO:2201266", "OMIMPS:177000", "Orphanet:659681", "SCTID:51022005", "UMLS:C0162568", "icd11.foundation:1642941362"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that involves the intestine.", "id": "MONDO:0001678", "name": "Intestinal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intestine tuberculosis", "tuberculosis of intestine"], "xref": ["DOID:13282", "GARD:0022987", "ICD10CM:A18.32", "ICD9:014.8", "ICD9:014.80", "MEDGEN:546943", "SCTID:60136008", "UMLS:C0275911"]}
{"category": ["biolink:Disease"], "description": "A benign papilloma that arises from the vagina in infants and young women.", "id": "MONDO:0001680", "name": "Vaginal mullerian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vaginal Mullerian papilloma", "vaginal Müllerian papilloma"], "xref": ["DOID:133", "MEDGEN:276952", "NCIT:C40255", "UMLS:C1519926"]}
{"category": ["biolink:Disease"], "description": "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.", "id": "MONDO:0001681", "name": "Diphtheritic cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13306", "ICD10CM:A36.85", "ICD9:032.84", "MEDGEN:509093", "SCTID:48278001", "UMLS:C0152954", "icd11.foundation:943460530"]}
{"category": ["biolink:Disease"], "description": "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.", "id": "MONDO:0001682", "name": "Diphtheritic peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13310", "ICD9:032.83", "MEDGEN:509092", "SCTID:13596001", "UMLS:C0152953", "icd11.foundation:114963194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001683", "name": "Pancreatic mucinous ductal ectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13313", "MEDGEN:233831", "NCIT:C5717", "UMLS:C1335310"]}
{"category": ["biolink:Disease"], "description": "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.", "id": "MONDO:0001684", "name": "Exocrine pancreatic insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exocrine pancreatic insufficiency"], "xref": ["DOID:13316", "ICD10CM:K86.81", "ICD9:577.8", "MEDGEN:75647", "MESH:D010188", "NCIT:C84316", "SCTID:47367009", "UMLS:C0267963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001685", "name": "Chronic follicular conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13326", "ICD10CM:H10.43", "ICD9:372.12", "MEDGEN:509808", "SCTID:39429002", "UMLS:C0155147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001686", "name": "Anatomical narrow angle borderline glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13327", "ICD9:365.02", "MEDGEN:1843458", "UMLS:C0154941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001687", "name": "Diabetic cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13328", "ICD9:366.41", "MEDGEN:507634", "SCTID:43959009", "UMLS:C0011876", "icd11.foundation:340836242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001688", "name": "Toxic optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13329", "GARD:0027585", "ICD10CM:H46.3", "ICD9:377.34", "MEDGEN:509903", "MESH:D000081028", "SCTID:26125006", "UMLS:C0155303", "icd11.foundation:1481748859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001689", "name": "Hypertrophy of tongue papillae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13333", "ICD10CM:K14.3", "ICD9:529.3", "MEDGEN:581137", "SCTID:6971002", "UMLS:C0392494", "icd11.foundation:1189946017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001690", "name": "Parasitic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13341", "ICD9:372.15", "MEDGEN:509809", "SCTID:13816006", "UMLS:C0155148"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the laryngeal cartilage.", "id": "MONDO:0001691", "name": "Laryngeal cartilage cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of laryngeal cartilage", "laryngeal cartilage cancer", "malignant laryngeal cartilage neoplasm", "malignant neoplasm of laryngeal cartilage", "malignant neoplasm of laryngeal cartilages", "malignant tumour of laryngeal cartilage"], "xref": ["DOID:13348", "GARD:0022988", "ICD10CM:C32.3", "ICD9:161.3", "MEDGEN:509306", "SCTID:363431006", "UMLS:C0153486", "icd11.foundation:697702574"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.", "id": "MONDO:0001692", "name": "Pedophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paedophilia"], "xref": ["DOID:13351", "ICD10CM:F65.4", "ICD9:302.2", "MEDGEN:18340", "MESH:D010378", "NCIT:C94355", "SCTID:84002002", "UMLS:C0030764", "icd11.foundation:517058174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001694", "name": "Diffuse interstitial keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13353", "ICD10CM:H16.32", "ICD9:370.52", "MEDGEN:509780", "SCTID:17157001", "UMLS:C0155089", "icd11.foundation:1750662534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001695", "name": "Senile ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13356", "ICD9:374.11", "MEDGEN:509841", "SCTID:71659009", "UMLS:C0155193"]}
{"category": ["biolink:Disease"], "description": "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.", "id": "MONDO:0001697", "name": "Reading disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13365", "ICD9:315.00", "ICD9:315.09", "SCTID:52824009"]}
{"category": ["biolink:Disease"], "description": "A dermatophytosis that involves the deep dermal layers.", "id": "MONDO:0001698", "name": "Tinea profunda", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13368", "SCTID:214600002"]}
{"category": ["biolink:Disease"], "description": "A dermatophytosis that involves the hands.", "id": "MONDO:0001699", "name": "Tinea manuum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tinea manus", "dermatophytosis of hand", "dermatophytosis of manus", "manus dermatophytosis"], "xref": ["DOID:13369", "ICD10CM:B35.2", "ICD9:110.2", "MEDGEN:509222", "SCTID:48971001", "UMLS:C0153246", "icd11.foundation:329171616"]}
{"category": ["biolink:Disease"], "description": "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.", "id": "MONDO:0001700", "name": "Megaloblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["megaloblastic anaemia (disease)", "megaloblastic anemia", "megaloblastic anemia (disease)"], "xref": ["DOID:13382", "HP:0001889", "ICD9:281.3", "MEDGEN:1527", "NANDO:2100176", "NANDO:2200612", "NCIT:C34382", "SCTID:53165003", "UMLS:C0002888"]}
{"category": ["biolink:Disease"], "description": "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.", "id": "MONDO:0001701", "name": "Gastrointestinal anthrax", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13386", "GARD:0027586", "ICD10CM:A22.2", "ICD9:022.2", "MEDGEN:102256", "MESH:C571911", "SCTID:111798006", "UMLS:C0152945", "icd11.foundation:1800193089"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the labia majora.", "id": "MONDO:0001702", "name": "Labia majora carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of labia majora", "carcinoma of labium majora", "carcinoma of the labia majora", "labia majora cancer", "labia majora carcinoma", "labium majora carcinoma"], "xref": ["DOID:13389", "GARD:0022990", "MEDGEN:235247", "NCIT:C9363", "UMLS:C1334356"]}
{"category": ["biolink:Disease"], "description": "The absence of or defect in the perception of colors.", "id": "MONDO:0001703", "name": "Color vision disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["blindness color", "blindness colour", "color blindness", "color vision defects", "color vision deficiency", "color-vision disease", "colour vision defects"], "xref": ["DOID:13399", "ICD10CM:H53.5", "ICD9:368.5", "ICD9:368.59", "MEDGEN:1826147", "NCIT:C3891", "Orphanet:98658", "SCTID:193683001", "UMLS:C5681659"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.", "id": "MONDO:0001704", "name": "Vaginal glandular neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vagina glandular cell neoplasm", "vaginal glandular neoplasm", "vaginal glandular tumor", "vaginal glandular tumour"], "xref": ["DOID:134", "MEDGEN:275574", "NCIT:C40250", "UMLS:C1519921"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.", "id": "MONDO:0001705", "name": "Pure red-cell aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRCA", "Pure Red Cell Aplasia, Acquired", "pure red cell aplasia"], "xref": ["DOID:1340", "GARD:0007504", "ICD9:284.81", "MEDGEN:11154", "MESH:D012010", "NANDO:2100177", "NCIT:C34974", "NORD:1636", "SCTID:50715003", "UMLS:C0034902"]}
{"category": ["biolink:Disease"], "description": "Sarcoidosis of the cerebrum.", "id": "MONDO:0001706", "name": "Cerebral sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral sarcoidosis", "sarcoidosis of telencephalon", "telencephalon sarcoidosis"], "xref": ["DOID:13403", "GARD:0022991", "MEDGEN:140767", "NCIT:C35441", "SCTID:111936002", "UMLS:C0398676"]}
{"category": ["biolink:Disease"], "description": "Sarcoidosis affecting the tissues of the heart.", "id": "MONDO:0001707", "name": "Cardiac sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["heart sarcoidosis", "sarcoidosis of heart"], "xref": ["DOID:13405", "GARD:0022992", "MEDGEN:140260", "NCIT:C35589", "SCTID:75403004", "UMLS:C0392077"]}
{"category": ["biolink:Disease"], "description": "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.", "id": "MONDO:0001708", "name": "Pulmonary sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung sarcoidosis", "sarcoidosis of lung"], "xref": ["DOID:13406", "GARD:0022993", "ICD10CM:D86.0", "ICD9:517.8", "MEDGEN:19873", "MESH:D017565", "NCIT:C34997", "SCTID:24369008", "UMLS:C0036205"]}
{"category": ["biolink:Disease"], "description": "Sarcoidosis with a complication of hypercalcemia.", "id": "MONDO:0001709", "name": "Hypercalcemic sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13407", "GARD:0022994", "MEDGEN:272729", "NCIT:C35807", "UMLS:C1334067"]}
{"category": ["biolink:Disease"], "description": "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.", "id": "MONDO:0001710", "name": "Perforation of bile duct", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13409", "ICD10CM:K83.2", "ICD9:576.3", "MEDGEN:56376", "SCTID:37439003", "UMLS:C0156218", "icd11.foundation:2011913010"]}
{"category": ["biolink:Disease"], "description": "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.", "id": "MONDO:0001711", "name": "Hepatic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["portal-systemic encephalopathy"], "xref": ["DOID:13413", "GARD:0027587", "ICD9:572.2", "MEDGEN:5513", "MESH:D006501", "NCIT:C79596", "SCTID:13920009", "UMLS:C0019151", "icd11.foundation:1769383160"]}
{"category": ["biolink:Disease"], "description": "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.", "id": "MONDO:0001712", "name": "Alexia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13417", "GARD:0027588", "ICD9:315.01", "MEDGEN:1809", "MESH:D004411", "UMLS:C0002018", "icd11.foundation:262295178"]}
{"category": ["biolink:Disease"], "description": "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.", "id": "MONDO:0001713", "name": "Inherited aplastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["constitutional aplastic anaemia", "constitutional aplastic anemia", "hereditary aplastic anaemia", "hereditary aplastic anemia"], "xref": ["DOID:1342", "GARD:0018889", "ICD10CM:D61.0", "ICD9:284.0", "ICD9:284.09", "MEDGEN:1826154", "MESH:D029502", "NANDO:1200302", "NANDO:2201275", "Orphanet:397692", "Orphanet:68383", "SCTID:28975000", "UMLS:C5681331"]}
{"category": ["biolink:Disease"], "description": "A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.", "id": "MONDO:0001714", "name": "Bejel", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Njovera", "Treponema pallidum subsp. endemicum caused disease or disorder", "Treponema pallidum subsp. endemicum disease or disorder", "Treponema pallidum subsp. endemicum infectious disease", "nonvenereal endemic syphilis"], "xref": ["DOID:13431", "GARD:0005905", "ICD10CM:A65", "MEDGEN:2569", "NORD:847", "UMLS:C0004945"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001715", "name": "Basilar artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13446", "ICD9:433.0", "ICD9:433.00", "ICD9:433.01", "MEDGEN:539076", "SCTID:195180004", "UMLS:C0265098"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001716", "name": "Corneal argyrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["argentous corneal deposits"], "xref": ["DOID:13447", "ICD10CM:H18.02", "ICD9:371.16", "MEDGEN:509793", "SCTID:21328003", "UMLS:C0155108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001717", "name": "Posterior corneal pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["posterior corneal pigmentations"], "xref": ["DOID:13448", "ICD10CM:H18.05", "ICD9:371.13", "MEDGEN:509792", "SCTID:267639001", "UMLS:C0155106"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the sclera.", "id": "MONDO:0001718", "name": "Scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["scleritis", "scleritis (disease)"], "xref": ["DOID:13452", "HP:0100532", "ICD10CM:H15.0", "ICD9:379.00", "MEDGEN:48585", "MESH:D015423", "NCIT:C119046", "SCTID:78370002", "UMLS:C0036416", "icd11.foundation:2097802831"]}
{"category": ["biolink:Disease"], "description": "An bursitis caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0001719", "name": "Gonococcal bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Neisseria gonorrhoeae bursitis", "Neisseria gonorrhoeae caused bursitis"], "xref": ["DOID:13453", "ICD9:098.52", "MEDGEN:509211", "SCTID:46699001", "UMLS:C0153218", "icd11.foundation:360081115"]}
{"category": ["biolink:Disease"], "description": "An synovitis (disease) caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0001720", "name": "Gonococcal synovitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gonococcal synovitis and tenosynovitis"], "xref": ["DOID:13454", "GARD:0027589", "ICD9:098.51", "MEDGEN:546735", "SCTID:266138002", "UMLS:C0275662", "icd11.foundation:491869700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001721", "name": "Urethral intrinsic sphincter deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intrinsic (urethral) sphincter deficiency [ISD]"], "xref": ["DOID:13461", "ICD9:599.82", "MEDGEN:843584", "UMLS:C0375381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001722", "name": "Central pterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13473", "ICD9:372.43", "MEDGEN:509816", "SCTID:43300008", "UMLS:C0155156"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001723", "name": "Progressive peripheral pterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13474", "ICD9:372.42", "MEDGEN:509815", "SCTID:193881001", "UMLS:C0155155"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.", "id": "MONDO:0001724", "name": "Supraglottis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of supraglottic part of larynx", "malignant neoplasm of extrinsic larynx", "malignant neoplasm of supraglottic part of larynx", "malignant neoplasm of supraglottis", "malignant neoplasm of the supraglottis", "malignant supraglottic neoplasm", "malignant supraglottic part of larynx neoplasm", "malignant supraglottic tumor", "malignant supraglottic tumour", "malignant supraglottis neoplasm", "malignant supraglottis tumor", "malignant supraglottis tumour", "malignant tumor of supraglottis", "malignant tumor of the supraglottis", "malignant tumour of supraglottis", "malignant tumour of the supraglottis", "supraglottic part of larynx cancer"], "xref": ["DOID:13476", "GARD:0027590", "ICD10CM:C32.1", "ICD9:161.1", "MEDGEN:57561", "NCIT:C3545", "SCTID:187842004", "UMLS:C0153484"]}
{"category": ["biolink:Disease"], "description": "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.", "id": "MONDO:0001725", "name": "Balanitis xerotica obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lichen Sclerosus of penis", "lichen Sclerosus of the penis", "penile lichen Sclerosus"], "xref": ["DOID:13477", "ICD9:607.81", "MEDGEN:57542", "MESH:D052798", "NCIT:C3523", "SCTID:198033005", "UMLS:C0152460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001727", "name": "Active cochleovestibular meniere disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["active Meniere's disease, cochleovestibular", "active cochleovestibular Meniere's disease"], "xref": ["DOID:13490", "ICD9:386.01", "MEDGEN:509989", "SCTID:194348002", "UMLS:C0155496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001728", "name": "Active vestibular meniere disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["active Meniere's disease, vestibular", "active vestibular Meniere's disease"], "xref": ["DOID:13491", "ICD9:386.03", "MEDGEN:509991", "SCTID:194350005", "UMLS:C0155498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001729", "name": "Active cochlear meniere disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["active Meniere's disease, cochlear", "active cochlear Meniere's disease"], "xref": ["DOID:13492", "ICD9:386.02", "MEDGEN:509990", "SCTID:194349005", "UMLS:C0155497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001730", "name": "Urethral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13498", "ICD9:597.81", "MEDGEN:510225", "SCTID:31273004", "UMLS:C0156279"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.", "id": "MONDO:0001731", "name": "Benign vaginal mixed epithelial and mesenchymal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign vaginal mixed epithelial and mesenchymal neoplasm", "benign vaginal mixed epithelial and mesenchymal tumor", "benign vaginal mixed epithelial and mesenchymal tumour"], "xref": ["DOID:135", "MEDGEN:267349", "NCIT:C40275", "UMLS:C1511106"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the trigone of the urinary bladder.", "id": "MONDO:0001732", "name": "Trigonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of trigone of urinary bladder", "trigone of urinary bladder inflammation"], "xref": ["DOID:13507", "ICD10CM:N30.3", "ICD9:595.3", "MEDGEN:687797", "NCIT:C123175", "SCTID:74445007", "UMLS:C1261278", "icd11.foundation:1938116176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001733", "name": "Occlusion of tributary of retinal vein", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["venous tributary (branch) occlusion of retina"], "xref": ["DOID:13514", "ICD9:362.36"]}
{"category": ["biolink:Disease"], "description": "Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.", "id": "MONDO:0001734", "name": "Tuberous sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Bourneville disease", "Bourneville syndrome", "Bourneville's disease", "Bourneville's syndrome", "TSC", "epiloia", "tuberous sclerosis", "tuberous sclerosis complex", "tuberous sclerosis syndrome"], "xref": ["DOID:13515", "GARD:0007830", "ICD10CM:Q85.1", "ICD9:759.5", "MEDGEN:22518", "MESH:D014402", "MedDRA:10045138", "NANDO:1200607", "NANDO:2200826", "NCIT:C3424", "NORD:1802", "OMIMPS:191100", "Orphanet:805", "SCTID:7199000", "UMLS:C0041341", "icd11.foundation:1903085809"]}
{"category": ["biolink:Disease"], "description": "A disease involving the paranasal sinus.", "id": "MONDO:0001735", "name": "Paranasal sinus disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of paranasal sinus", "disease or disorder of paranasal sinus", "disorder of paranasal sinus", "paranasal sinus disease", "paranasal sinus disease or disorder", "paranasal sinus disorder", "sinus disorder"], "xref": ["DOID:1352", "EFO:0009481", "ICD9:478.1", "MEDGEN:14608", "MESH:D010254", "NCIT:C26843", "SCTID:7393007", "UMLS:C0030469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001736", "name": "Neonatal infective mastitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13520", "ICD10CM:P39.0", "ICD9:771.5", "MEDGEN:510679", "SCTID:3468005", "UMLS:C0158948"]}
{"category": ["biolink:Disease"], "description": "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.", "id": "MONDO:0001737", "name": "Tetanus neonatorum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neonatal tetanus"], "xref": ["DOID:13521", "GARD:0022998", "ICD10CM:A33", "ICD10WHO:A33", "ICD9:771.3", "MEDGEN:575516", "NCIT:C116814", "SCTID:43424001", "UMLS:C0343312", "icd11.foundation:2085616610"]}
{"category": ["biolink:Disease"], "description": "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.", "id": "MONDO:0001739", "name": "Purulent labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["suppurative labyrinthitis"], "xref": ["DOID:13534", "ICD9:386.33", "MEDGEN:509995", "SCTID:24817009", "UMLS:C0155506", "icd11.foundation:479586656"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the cornea.", "id": "MONDO:0001740", "name": "Cornea squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cornea epidermoid carcinoma", "cornea squamous cell carcinoma", "corneal epidermoid carcinoma", "corneal squamous cell carcinoma", "epidermoid carcinoma of cornea", "epidermoid carcinoma of the cornea", "squamous cell carcinoma of cornea", "squamous cell carcinoma of the cornea"], "xref": ["DOID:13538", "GARD:0022999", "MEDGEN:91102", "NCIT:C4552", "SCTID:255008003", "UMLS:C0346366"]}
{"category": ["biolink:Disease"], "description": "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.", "id": "MONDO:0001741", "name": "Hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperparathyroidism"], "xref": ["DOID:13543", "EFO:0008506", "ICD9:252.0", "ICD9:252.00", "MEDGEN:6967", "MESH:D006961", "NANDO:2100123", "NANDO:2200343", "NCIT:C48259", "SCTID:66999008", "UMLS:C0020502", "icd11.foundation:9633776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001742", "name": "Interval angle-closure glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intermittent angle-closure glaucoma"], "xref": ["DOID:13549", "ICD10CM:H40.23", "ICD9:365.21", "MEDGEN:509734", "SCTID:65460003", "UMLS:C0154945"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.", "id": "MONDO:0001743", "name": "Paranasal sinus lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["accessory sinus lymphoma", "lymphoma of accessory sinus", "lymphoma of paranasal sinus", "lymphoma of the accessory sinus", "lymphoma of the paranasal sinus", "paranasal sinus lymphoma", "primary paranasal sinus lymphoma"], "xref": ["DOID:1355", "GARD:0023000", "MEDGEN:277498", "NCIT:C6068", "UMLS:C1335339"]}
{"category": ["biolink:Disease"], "description": "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.", "id": "MONDO:0001744", "name": "Angle-closure glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angle closure glaucoma"], "xref": ["DOID:13550", "MEDGEN:6610", "MESH:D015812", "SCTID:392291006", "UMLS:C0017605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001745", "name": "Subserous uterine fibroid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["subserous leiomyoma of uterus"], "xref": ["DOID:13560", "GARD:0023001", "ICD9:218.2", "MEDGEN:509503", "SCTID:95280005", "UMLS:C0153995"]}
{"category": ["biolink:Disease"], "description": "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)", "id": "MONDO:0001746", "name": "Optic disk drusen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["drusen of optic disc", "drusen of optic disk"], "xref": ["DOID:13561", "ICD10CM:H47.32", "ICD9:377.21", "MEDGEN:14495", "MESH:D015594", "SCTID:33629003", "UMLS:C0029128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001747", "name": "Tibial collateral ligament bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13566", "ICD9:726.62", "MEDGEN:510511", "SCTID:44245003", "UMLS:C0158315"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.", "id": "MONDO:0001748", "name": "Maxillary sinus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of maxillary sinus", "carcinoma of maxillary sinus", "malignant maxillary sinus neoplasm", "malignant maxillary sinus tumor", "malignant maxillary sinus tumour", "malignant neoplasm of maxillary sinus", "malignant neoplasm of the maxillary sinus", "malignant tumor of maxillary sinus", "malignant tumor of the maxillary sinus", "malignant tumour of maxillary sinus", "malignant tumour of the maxillary sinus", "maxillary sinus cancer", "maxillary sinus carcinoma"], "xref": ["DOID:1357", "GARD:0023002", "ICD9:160.2", "MEDGEN:196632", "NCIT:C3540", "NCIT:C9332", "SCTID:363425008", "UMLS:C0740487"]}
{"category": ["biolink:Disease"], "description": "A senile cataract that involves the lens cortex.", "id": "MONDO:0001749", "name": "Cortical senile cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lens cortex senile cataract", "senile cataract of lens cortex"], "xref": ["DOID:13574", "ICD9:366.15", "MEDGEN:509748", "SCTID:78875003", "UMLS:C0154980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001750", "name": "Non-renal secondary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13575", "ICD9:252.02", "MEDGEN:845321", "UMLS:C3874997"]}
{"category": ["biolink:Disease"], "description": "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.", "id": "MONDO:0001751", "name": "Cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obstruction of bile duct"], "xref": ["DOID:13580", "ICD9:576.2", "MEDGEN:925", "MESH:D002779", "SCTID:30144000", "UMLS:C0008370"]}
{"category": ["biolink:Disease"], "description": "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)", "id": "MONDO:0001752", "name": "Alveolar periostitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alveolitis of jaw", "dry socket", "extrinsic allergic alveolitis of jaw skeleton", "jaw skeleton extrinsic allergic alveolitis"], "xref": ["DOID:13585", "ICD10CM:M27.3", "ICD9:526.5", "MEDGEN:3923", "MESH:D004368", "SCTID:61804006", "UMLS:C0013240"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001753", "name": "Female infertility of uterine origin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infertility, female, of uterine origin"], "xref": ["DOID:13589", "ICD10CM:N97.2", "ICD9:628.3", "MEDGEN:510285", "SCTID:26899006", "UMLS:C0156416"]}
{"category": ["biolink:Disease"], "description": "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.", "id": "MONDO:0001754", "name": "Eclampsia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eclampsia, postpartum"], "xref": ["DOID:13593", "ICD10CM:O15", "ICD10WHO:O15", "ICD9:642.64", "MEDGEN:4443", "MESH:D004461", "NCIT:C87167", "SCTID:303063000", "UMLS:C0013537", "icd11.foundation:1759760659"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the frontal sinus.", "id": "MONDO:0001756", "name": "Frontal sinus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of frontal sinus", "frontal sinus cancer", "malignant frontal sinus neoplasm", "malignant frontal sinus tumor", "malignant frontal sinus tumour", "malignant neoplasm of frontal sinus", "malignant neoplasm of the frontal sinus", "malignant tumor of frontal sinus", "malignant tumor of the frontal sinus", "malignant tumour of frontal sinus", "malignant tumour of the frontal sinus"], "xref": ["DOID:1360", "GARD:0023003", "ICD10CM:C31.2", "ICD9:160.4", "MEDGEN:57786", "NCIT:C3542", "SCTID:363427000", "UMLS:C0153478"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0001757", "name": "Frontal sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["frontal sinus neoplasm (disease)", "frontal sinus tumor", "frontal sinus tumour", "neoplasm of frontal sinus", "neoplasm of the frontal sinus", "tumor of frontal sinus", "tumor of the frontal sinus", "tumour of frontal sinus", "tumour of the frontal sinus"], "xref": ["DOID:1361", "GARD:0023004", "MEDGEN:91051", "NCIT:C4419", "SCTID:126678005", "UMLS:C0345672"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the paranasal sinus.", "id": "MONDO:0001758", "name": "Paranasal sinus sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["accessory sinus sarcoma", "paranasal sinus sarcoma", "sarcoma of accessory sinus", "sarcoma of paranasal sinus", "sarcoma of the accessory sinus", "sarcoma of the paranasal sinus"], "xref": ["DOID:1362", "GARD:0023005", "MEDGEN:233842", "NCIT:C6849", "UMLS:C1335342"]}
{"category": ["biolink:Disease"], "description": "Injury to the cornea secondary to ultraviolet light.", "id": "MONDO:0001760", "name": "Photokeratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ultraviolet keratitis"], "xref": ["DOID:13626", "GARD:0023006", "ICD10CM:H16.13", "ICD9:370.24", "MEDGEN:509774", "NCIT:C118750", "SCTID:1714005", "UMLS:C0155078", "icd11.foundation:1566990302"]}
{"category": ["biolink:Disease"], "description": "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.", "id": "MONDO:0001761", "name": "Favism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13628", "MEDGEN:4667", "MESH:D005236", "NCIT:C34607", "SCTID:191172001", "UMLS:C0015702"]}
{"category": ["biolink:Disease"], "description": "A tooth erosion, non-bacterial that involves the dentine.", "id": "MONDO:0001762", "name": "Dentine erosion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dentine tooth erosion, non-bacterial", "tooth erosion, non-bacterial of dentine"], "xref": ["DOID:13629", "ICD9:521.32", "MEDGEN:1843465", "UMLS:C1456162"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ethmoid sinus.", "id": "MONDO:0001763", "name": "Ethmoid sinus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of ethmoid sinus", "ethmoid sinus cancer", "malignant ethmoid sinus neoplasm", "malignant ethmoid sinus tumor", "malignant ethmoid sinus tumour", "malignant ethmoidal sinus neoplasm", "malignant ethmoidal sinus tumor", "malignant ethmoidal sinus tumour", "malignant neoplasm of ethmoid sinus", "malignant neoplasm of ethmoidal sinus", "malignant neoplasm of the ethmoid sinus", "malignant neoplasm of the ethmoidal sinus", "malignant tumor of ethmoid sinus", "malignant tumor of ethmoidal sinus", "malignant tumor of the ethmoid sinus", "malignant tumor of the ethmoidal sinus", "malignant tumour of ethmoid sinus", "malignant tumour of ethmoidal sinus", "malignant tumour of the ethmoid sinus", "malignant tumour of the ethmoidal sinus"], "xref": ["DOID:1363", "GARD:0023007", "ICD10CM:C31.1", "ICD9:160.3", "MEDGEN:102272", "NCIT:C3541", "SCTID:363426009", "UMLS:C0153477"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0001764", "name": "Ethmoidal sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ethmoid sinus neoplasm", "ethmoid sinus neoplasm (disease)", "ethmoid sinus tumor", "ethmoid sinus tumour", "ethmoidal sinus neoplasm", "ethmoidal sinus tumor", "ethmoidal sinus tumour", "neoplasm of ethmoid sinus", "neoplasm of ethmoidal sinus", "neoplasm of the ethmoid sinus", "neoplasm of the ethmoidal sinus", "tumor of ethmoid sinus", "tumor of ethmoidal sinus", "tumor of the ethmoid sinus", "tumor of the ethmoidal sinus", "tumour of ethmoid sinus", "tumour of ethmoidal sinus", "tumour of the ethmoid sinus", "tumour of the ethmoidal sinus"], "xref": ["DOID:1364", "GARD:0023008", "MEDGEN:83386", "NCIT:C4416", "SCTID:126677000", "UMLS:C0345668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001765", "name": "Polyneuropathy in collagen vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13649", "GARD:0023009", "ICD9:357.1", "ICD9:357.4", "MEDGEN:509648", "SCTID:193177003", "UMLS:C0154759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001766", "name": "Eversion of lacrimal punctum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13651", "ICD10CM:H04.52", "ICD9:375.51", "MEDGEN:509868", "SCTID:28244003", "UMLS:C0155243", "icd11.foundation:129526571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001767", "name": "Stenosis of lacrimal punctum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13653", "ICD10CM:H04.56", "ICD9:375.52", "MEDGEN:509869", "SCTID:74783009", "UMLS:C0155244"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001768", "name": "Stenosis of lacrimal passage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stenosis of lacrimal canaliculi"], "xref": ["DOID:13654", "ICD9:375.53", "MEDGEN:509870", "SCTID:81345003", "UMLS:C0155245"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001769", "name": "Acquired tear duct stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired stenosis of nasolacrimal duct", "stenosis of nasolacrimal duct, acquired"], "xref": ["DOID:13655", "ICD10CM:H04.55", "ICD9:375.56", "MEDGEN:509872", "SCTID:193995004", "UMLS:C0155248"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001770", "name": "Gastrin secretion abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13656", "ICD9:251.5", "MEDGEN:507382", "SCTID:47344007", "UMLS:C0000774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001771", "name": "Infective urethral stricture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13658", "ICD9:136.9", "ICD9:598.00", "ICD9:598.01", "MEDGEN:588592", "SCTID:80375002", "UMLS:C0403696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001772", "name": "Ulcer of anus and rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13662", "ICD10CM:K62.6", "ICD9:569.41", "MEDGEN:1843457", "UMLS:C0400832"]}
{"category": ["biolink:Disease"], "description": "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)", "id": "MONDO:0001773", "name": "Post-vaccinal encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["encephalitis following immunisation procedures", "encephalitis following immunization procedures"], "xref": ["DOID:13664", "GARD:0023010", "ICD9:323.51", "MEDGEN:152946", "SCTID:31367003", "UMLS:C0751101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001774", "name": "Posterior scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13676", "ICD10CM:H15.03", "ICD9:379.07", "MEDGEN:509932", "SCTID:267660007", "UMLS:C0155357", "icd11.foundation:982348440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001775", "name": "Chronic duodenal ileus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13687", "ICD9:537.2", "MEDGEN:510177", "SCTID:52232007", "UMLS:C0156087", "icd11.foundation:379824638"]}
{"category": ["biolink:Disease"], "description": "A concretion in the prostate.", "id": "MONDO:0001776", "name": "Prostate calculus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["calculus of prostate", "lower urinary tract calculus of prostate gland", "prostate gland lower urinary tract calculus", "prostatic stone"], "xref": ["DOID:13689", "ICD10CM:N42.0", "ICD9:602.0", "MEDGEN:57431", "SCTID:85324003", "UMLS:C0149525"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal cystitis.", "id": "MONDO:0001777", "name": "Acute gonococcal cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gonorrhoea of bladder", "gonococcal cystitis (acute)", "gonococcal cystitis, acute"], "xref": ["DOID:13690", "ICD9:098.11", "MEDGEN:509193", "SCTID:24868007", "UMLS:C0153191"]}
{"category": ["biolink:Disease"], "description": "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.", "id": "MONDO:0001778", "name": "Dermoid cyst of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cutaneous dermoid cyst", "cystic skin teratoma", "dermoid cyst of skin", "dermoid cyst of skin (finding)", "dermoid cyst of the skin", "skin dermoid", "skin dermoid cyst", "subcutaneous dermoid cyst", "zone of skin dermoid cyst"], "xref": ["DOID:13691", "GARD:0023011", "MEDGEN:91148", "NCIT:C4632", "SCTID:276729007", "UMLS:C0349502"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.", "id": "MONDO:0001779", "name": "Vaginal squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["squamous papilloma of the vagina", "squamous papilloma of vagina", "vagina squamous papilloma", "vaginal squamous papilloma"], "xref": ["DOID:137", "MEDGEN:234983", "NCIT:C6374", "UMLS:C1336943"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.", "id": "MONDO:0001780", "name": "Premature ejaculation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["premature ejaculation", "premature ejaculation (disease)"], "xref": ["DOID:13709", "HP:0012876", "ICD10CM:F52.4", "ICD9:302.75", "MEDGEN:452112", "MESH:D061686", "NCIT:C94349", "UMLS:C0033038"]}
{"category": ["biolink:Disease"], "description": "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.", "id": "MONDO:0001781", "name": "Uterine corpus adenomatoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["body of uterus adenomatoid tumor", "body of uterus adenomatoid tumour", "uterine corpus adenomatoid tumor", "uterine corpus localized epithelial mesothelioma"], "xref": ["DOID:1371", "MEDGEN:234464", "NCIT:C27250", "UMLS:C1336902"]}
{"category": ["biolink:Disease"], "description": "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.", "id": "MONDO:0001782", "name": "Mature cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["total or mature cataract"], "xref": ["DOID:13717", "ICD9:366.17", "MEDGEN:784053", "SCTID:849000", "UMLS:C3665439"]}
{"category": ["biolink:Disease"], "description": "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.", "id": "MONDO:0001783", "name": "Endometrial stromal nodule", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1373", "ICDO:8930/0", "MEDGEN:924530", "NCIT:C4262", "SCTID:721571001", "UMLS:C4284031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001784", "name": "Malignant renovascular hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant renal artery stenosis", "malignant renal hypertension"], "xref": ["DOID:13730", "MEDGEN:538723", "UMLS:C0264643", "icd11.foundation:1402842599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001785", "name": "Malignant secondary hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13731", "ICD9:405.0", "ICD9:405.09", "MEDGEN:510039", "SCTID:89242004", "UMLS:C0155617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001786", "name": "Uterine inflammatory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13736", "EFO:0009572", "ICD9:615.9", "MEDGEN:541692", "SCTID:28783002", "UMLS:C0269047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001787", "name": "Hepatic infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13738", "ICD9:573.4", "MEDGEN:508812", "MESH:D000081011", "SCTID:17890003", "UMLS:C0151731", "icd11.foundation:1003389114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001788", "name": "Nutmeg liver", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic passive congestion of liver"], "xref": ["DOID:13739", "ICD10CM:K76.1", "ICD9:573.0", "MEDGEN:510207", "SCTID:34736002", "UMLS:C0156195", "icd11.foundation:707272147"]}
{"category": ["biolink:Disease"], "description": "A neurofibroma that arises from the spinal cord.", "id": "MONDO:0001789", "name": "Neurofibroma of spinal cord", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neurofibroma of spinal cord", "spinal cord neurofibroma"], "xref": ["DOID:13742", "GARD:0023012", "MEDGEN:234804", "NCIT:C5145", "UMLS:C1336047"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.", "id": "MONDO:0001790", "name": "Spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["lipoma of spinal cord", "spinal cord lipoma"], "xref": ["DOID:13743", "GARD:0023013", "ICD9:214.8", "MEDGEN:91131", "NANDO:2200815", "NCIT:C4619", "Orphanet:645276", "SCTID:189017000", "UMLS:C0347446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001791", "name": "Neonatal urinary tract infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urinary tract infection of newborn"], "xref": ["DOID:1375", "ICD9:771.82", "MEDGEN:536451", "SCTID:12301009", "UMLS:C0235815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001792", "name": "Epiphora due to insufficient drainage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13756", "ICD10CM:H04.22", "ICD9:375.22", "MEDGEN:509862", "SCTID:85042000", "UMLS:C0155234", "icd11.foundation:2073269541"]}
{"category": ["biolink:Disease"], "description": "Profuse lacrimation.", "id": "MONDO:0001793", "name": "Excessive tearing", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epiphora"], "xref": ["DOID:13757", "ICD10CM:H04.2", "ICD9:375.2", "ICD9:375.20", "MEDGEN:57518", "SCTID:193982009", "UMLS:C0152227"]}
{"category": ["biolink:Disease"], "description": "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.", "id": "MONDO:0001794", "name": "Pthirus pubis infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Phthirus pubis [pubic louse]", "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)", "Pthirus pubis infection", "infestation by Phthirus pubis", "pediculosis pubis", "phthiriasis"], "xref": ["DOID:13760", "ICD10CM:B85.3", "ICD9:132.2", "MEDGEN:10616", "NCIT:C35777", "SCTID:71011005", "UMLS:C0030759"]}
{"category": ["biolink:Disease"], "description": "A wart in the plantar surface of the foot. It is caused by human papillomavirus.", "id": "MONDO:0001795", "name": "Plantar wart", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["plantar wart", "verruca plantaris"], "xref": ["DOID:13775", "EFO:1002023", "ICD10CM:B07.0", "ICD9:078.12", "MEDGEN:53003", "NCIT:C26913", "SCTID:63440008", "UMLS:C0042548"]}
{"category": ["biolink:Disease"], "description": "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.", "id": "MONDO:0001797", "name": "Chancroid", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:13778", "GARD:0009522", "ICD10CM:A57", "ICD10WHO:A57", "ICD9:099.0", "MEDGEN:872", "MESH:D002602", "SCTID:266143009", "UMLS:C0007947", "icd11.foundation:1357024926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001798", "name": "Hypermobility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13781", "ICD10CM:M35.7", "ICD9:728.5", "MEDGEN:508885", "SCTID:85551004", "UMLS:C0152093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001799", "name": "Localized anterior staphyloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anterior staphyloma, localized"], "xref": ["DOID:13787", "ICD10CM:H15.82", "ICD9:379.14", "MEDGEN:509936", "SCTID:21946002", "UMLS:C0155362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001800", "name": "Equatorial staphyloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13788", "ICD10CM:H15.81", "ICD9:379.13", "MEDGEN:509935", "SCTID:82146006", "UMLS:C0155361", "icd11.foundation:120412682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001801", "name": "Staphyloma posticum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13789", "ICD10CM:H15.83", "ICD9:379.12", "MEDGEN:509934", "SCTID:87819007", "UMLS:C0155360", "icd11.foundation:382453603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001802", "name": "Acute tympanitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute myringitis"], "xref": ["DOID:13790", "ICD10CM:H73.0", "ICD9:384.00", "MEDGEN:509976", "SCTID:297009", "UMLS:C0155460"]}
{"category": ["biolink:Disease"], "description": "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.", "id": "MONDO:0001803", "name": "Bullous myringitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bullous myringitis"], "xref": ["DOID:13791", "ICD10CM:H73.01", "ICD9:384.01", "MEDGEN:509977", "SCTID:33528003", "UMLS:C0155461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001804", "name": "Anterior scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13794", "ICD10CM:H15.01", "ICD9:379.03", "MEDGEN:509928", "SCTID:63454000", "UMLS:C0155353", "icd11.foundation:728494077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001805", "name": "Female breast central part cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant neoplasm of central portion of female breast"], "xref": ["DOID:13799", "ICD9:174.1", "MEDGEN:509323", "SCTID:188151006", "UMLS:C0153549"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.", "id": "MONDO:0001806", "name": "Vaginal squamous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vagina squamous cell neoplasm", "vaginal squamous neoplasm", "vaginal squamous tumor"], "xref": ["DOID:138", "MEDGEN:274381", "NCIT:C40242", "UMLS:C1519931"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001807", "medic_stub": true, "name": "obsolete familial combined hyperlipidemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001808", "name": "Chronic subinvolution of uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13811", "ICD9:621.1", "MEDGEN:510263", "SCTID:198315005", "UMLS:C0156370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001809", "name": "Adhesions of uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13812", "ICD9:621.5", "MEDGEN:537073", "SCTID:361115000", "UMLS:C0241593"]}
{"category": ["biolink:Disease"], "description": "A disease involving the hypoglossal nerve.", "id": "MONDO:0001810", "name": "Hypoglossal nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of hypoglossal nerve", "disease or disorder of hypoglossal nerve", "disorder of XII nerve", "disorder of hypoglossal [12th] nerve", "disorder of hypoglossal nerve", "disorder of the XII nerve", "hypoglossal nerve disease", "hypoglossal nerve disease or disorder", "hypoglossal nerve disorder", "twelfth nerve disorder"], "xref": ["DOID:13814", "ICD9:352.5", "MEDGEN:57513", "MESH:D020437", "NCIT:C26954", "SCTID:24777009", "UMLS:C0152181"]}
{"category": ["biolink:Disease"], "description": "A cataract resulting from hypocalcemia.", "id": "MONDO:0001811", "name": "Tetanic cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypocalcaemic cataract"], "xref": ["DOID:13822", "ICD9:366.42", "MEDGEN:52678", "NCIT:C35068", "SCTID:68216000", "UMLS:C0039613", "icd11.foundation:2073255301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001812", "name": "Parasitic eyelid infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["parasitic infestation of eyelid"], "xref": ["DOID:13823", "ICD9:373.6", "MEDGEN:509836", "SCTID:193922006", "UMLS:C0155183"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001813", "name": "Squamous blepharitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13825", "ICD10CM:H01.02", "ICD9:373.02", "MEDGEN:509829", "SCTID:58912008", "UMLS:C0155174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001815", "name": "Extrapyramidal and movement disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13839", "ICD10CM:G20-G26", "ICD9:333.90", "MEDGEN:852565", "UMLS:C0477355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001816", "name": "Scleroperikeratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["scleritis with corneal involvement"], "xref": ["DOID:13861", "ICD10CM:H15.04", "ICD9:379.05", "MEDGEN:509930", "SCTID:42574005", "UMLS:C0155355"]}
{"category": ["biolink:Disease"], "description": "Acute form of angle-closure glaucoma.", "id": "MONDO:0001817", "name": "Acute closed-angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute angle-closure glaucoma", "angle-closure glaucoma, acute"], "xref": ["DOID:13862", "ICD10CM:H40.21", "ICD9:365.22", "MEDGEN:509735", "SCTID:30041005", "UMLS:C0154946"]}
{"category": ["biolink:Disease"], "description": "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.", "id": "MONDO:0001818", "name": "Facial neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["facial nerve neuralgia", "neuralgia of facial nerve"], "xref": ["DOID:13865", "EFO:0009380", "GARD:0023014", "ICD9:351.8", "MEDGEN:5099", "MESH:D005156", "SCTID:4151000119102", "UMLS:C0015467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001819", "name": "Multiple cranial nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["multiple cranial nerve palsies"], "xref": ["DOID:13866", "ICD9:352.6", "MEDGEN:509636", "SCTID:78152008", "UMLS:C0154733"]}
{"category": ["biolink:Disease"], "description": "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.", "id": "MONDO:0001820", "name": "Focal labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circumscribed labyrinthitis"], "xref": ["DOID:13867", "ICD9:386.32", "MEDGEN:509994", "SCTID:61794006", "UMLS:C0155505", "icd11.foundation:1257091364"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.", "id": "MONDO:0001821", "name": "Hypoactive sexual desire disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lack or loss of sexual desire"], "xref": ["DOID:13868", "ICD10CM:F52.0", "ICD9:302.71", "MEDGEN:43792", "NCIT:C94337", "SCTID:270903007", "UMLS:C0020594"]}
{"category": ["biolink:Disease"], "description": "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).", "id": "MONDO:0001822", "name": "Hypolipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypolipoproteinemia", "hypolipoproteinemia (disease)"], "xref": ["DOID:1387", "GARD:0008394", "HP:0010981", "ICD9:272.5", "MEDGEN:6982", "MESH:D007009", "SCTID:363140000", "UMLS:C0020623"]}
{"category": ["biolink:Disease"], "description": "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.", "id": "MONDO:0001823", "name": "Sick sinus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SSS"], "xref": ["DOID:13884", "ICD10CM:I49.5", "MEDGEN:20749", "MESH:D012804", "NANDO:2100043", "NANDO:2200212", "NCIT:C62244", "SCTID:36083008", "UMLS:C0037052", "icd11.foundation:1682594333"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder affecting more than one nerve.", "id": "MONDO:0001824", "name": "Polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyneuropathy"], "xref": ["DOID:1389", "EFO:0009562", "ICD9:356.9", "ICD9:357.4", "MEDGEN:57502", "MESH:D011115", "NCIT:C26951", "SCTID:42345000", "UMLS:C0152025", "icd11.foundation:58868923"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.", "id": "MONDO:0001825", "name": "Squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidermoid cell papilloma", "epidermoid papilloma", "keratotic papilloma", "papilloma, squamous cell, benign", "squamous cell papilloma", "squamous cell papilloma (morphologic abnormality)", "squamous papilloma"], "xref": ["DOID:139", "EFO:1001970", "ICDO:8052/0", "MEDGEN:61470", "NCIT:C3712", "UMLS:C0205874"]}
{"category": ["biolink:Disease"], "description": "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.", "id": "MONDO:0001827", "name": "White piedra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tinea blanca"], "xref": ["DOID:13902", "ICD10CM:B36.2", "ICD9:111.2", "MEDGEN:452113", "SCTID:35586003", "UMLS:C0040249", "icd11.foundation:303653536"]}
{"category": ["biolink:Disease"], "description": "Non-heritable difficulty in distinguishing colors.", "id": "MONDO:0001828", "name": "Acquired color blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired color vision deficiencies", "acquired color vision deficiency", "acquired color vision disorder", "acquired colour vision disorder"], "xref": ["DOID:13912", "GARD:0023016", "ICD10CM:H53.52", "ICD9:368.55", "MEDGEN:57828", "NCIT:C118712", "SCTID:71676008", "UMLS:C0155018"]}
{"category": ["biolink:Disease"], "description": "A nerve plexus disease that involves the lumbosacral nerve plexus.", "id": "MONDO:0001829", "name": "Lumbosacral plexus lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lumbosacral nerve plexus nerve plexus disease", "lumbosacral plexus lesions", "nerve plexus disease of lumbosacral nerve plexus"], "xref": ["DOID:13913", "GARD:0023017", "ICD9:353.1", "MEDGEN:509637", "SCTID:4062006", "UMLS:C0154735"]}
{"category": ["biolink:Disease"], "description": "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)", "id": "MONDO:0001830", "name": "Somatization disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Briquet's disorder"], "xref": ["DOID:13918", "ICD10CM:F45.0", "ICD9:300.81", "MEDGEN:99241", "SCTID:397923000", "UMLS:C0520482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001831", "name": "Irregular astigmatism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13919", "ICD10CM:H52.21", "ICD9:367.22", "MEDGEN:508922", "SCTID:47099006", "UMLS:C0152194", "icd11.foundation:1086387343"]}
{"category": ["biolink:Disease"], "description": "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.", "id": "MONDO:0001832", "name": "Bacterial esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bacterial esophagitis"], "xref": ["DOID:13921", "MEDGEN:83319", "NCIT:C27106", "SCTID:235601001", "UMLS:C0341108"]}
{"category": ["biolink:Disease"], "description": "Blockage of the tear duct.", "id": "MONDO:0001833", "name": "Lacrimal duct obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13929", "MEDGEN:226915", "MESH:D007767", "SCTID:416920000", "UMLS:C1281931"]}
{"category": ["biolink:Disease"], "description": "A disorder of the neural pathway from the optic nerve to the visual cortex.", "id": "MONDO:0001834", "name": "Visual pathway disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of optic tract", "disease or disorder of optic tract", "disorder of optic tract", "optic tract disease", "optic tract disease or disorder", "visual pathway disorder"], "xref": ["DOID:1393", "ICD10CM:H47.9", "MEDGEN:57831", "NCIT:C35342", "SCTID:54767005", "SCTID:95776004", "UMLS:C0155287"]}
{"category": ["biolink:Disease"], "description": "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.", "id": "MONDO:0001835", "name": "Facial paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["face palsy", "palsy of face"], "xref": ["DOID:13934", "MEDGEN:5101", "MESH:D005158", "SCTID:280816001", "UMLS:C0015469"]}
{"category": ["biolink:Disease"], "description": "The absence of menses in a woman who has achieved reproductive age.", "id": "MONDO:0001836", "name": "Amenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["absence of menstruation", "amenorrhea", "amenorrhea (disease)"], "xref": ["DOID:13938", "HP:0000141", "ICD9:626.0", "MEDGEN:8016", "MESH:D000568", "NCIT:C61443", "UMLS:C0002453"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal salpingitis.", "id": "MONDO:0001837", "name": "Acute gonococcal salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonococcal salpingitis, acute", "gonococcal salpingitis, specified as acute"], "xref": ["DOID:13942", "ICD9:098.17", "MEDGEN:546728", "SCTID:45377007", "UMLS:C0275654", "icd11.foundation:48273613"]}
{"category": ["biolink:Disease"], "description": "Acute form of gonococcal prostatitis.", "id": "MONDO:0001838", "name": "Acute gonococcal prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gonococcal prostatitis", "gonococcal prostatitis (acute)", "gonococcal prostatitis, acute"], "xref": ["DOID:13943", "ICD9:098.12", "MEDGEN:509194", "SCTID:111806005", "UMLS:C0153192", "icd11.foundation:1552826290"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.", "id": "MONDO:0001841", "name": "Uterine corpus epithelioid leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:13951", "GARD:0023018", "MEDGEN:275554", "NCIT:C40164", "UMLS:C1519850"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.", "id": "MONDO:0001842", "name": "Uterine corpus dissecting leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cotyledonoid dissecting leiomyoma", "Sternberg tumor", "Sternberg tumour"], "xref": ["DOID:13953", "GARD:0023019", "MEDGEN:275552", "NCIT:C40172", "UMLS:C1519847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001843", "name": "Uterus interstitial leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intramural leiomyoma of uterus"], "xref": ["DOID:13955", "GARD:0023020", "ICD10CM:D25.1", "ICD9:218.1", "MEDGEN:509502", "SCTID:93616000", "UMLS:C0153994"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.", "id": "MONDO:0001844", "name": "Uterine corpus myxoid leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:13956", "GARD:0023021", "MEDGEN:275558", "NCIT:C40166", "UMLS:C1519860"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.", "id": "MONDO:0001845", "name": "Uterine corpus lipoleiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["uterine corpus lipomatous leiomyoma"], "xref": ["DOID:13957", "GARD:0023022", "MEDGEN:311424", "NCIT:C40168", "UMLS:C1519856"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.", "id": "MONDO:0001846", "name": "Uterine corpus bizarre leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bizarre leiomyoma of body of uterus", "body of uterus bizarre leiomyoma", "uterine corpus Symplastic leiomyoma", "uterine corpus bizarre leiomyoma", "uterine corpus leiomyoma with bizarre nuclei", "uterine corpus leiomyoma, atypical variant"], "xref": ["DOID:13958", "GARD:0023023", "MEDGEN:275555", "NCIT:C40167", "UMLS:C1519853"]}
{"category": ["biolink:Disease"], "description": "A senile cataract that involves the lens nucleus.", "id": "MONDO:0001847", "name": "Nuclear senile cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Senile nuclear sclerosis", "lens nucleus senile cataract", "senile cataract of lens nucleus"], "xref": ["DOID:13963", "ICD9:366.16", "MEDGEN:543204", "SCTID:193589009", "UMLS:C0271166"]}
{"category": ["biolink:Disease"], "description": "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.", "id": "MONDO:0001848", "name": "Morgagni cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Morgagnian cataract"], "xref": ["DOID:13964", "ICD9:366.18", "MEDGEN:508950", "SCTID:264443002", "UMLS:C0152258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001849", "name": "Chronic orbital inflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1397", "ICD9:376.1", "ICD9:376.10", "MEDGEN:509880", "SCTID:44729001", "UMLS:C0155261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001850", "name": "Female breast lower-outer quadrant cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13972", "ICD9:174.5", "MEDGEN:509327", "SCTID:188155002", "UMLS:C0153553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001851", "name": "Primary lacrimal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1399", "ICD9:375.13", "MEDGEN:509859", "SCTID:17093002", "UMLS:C0155229"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.", "id": "MONDO:0001852", "name": "Small intestine lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphoma of small bowel", "lymphoma of small intestine", "lymphoma of the small bowel", "lymphoma of the small intestine", "primary small intestinal lymphoma", "small bowel lymphoma", "small intestinal lymphoma", "small intestine lymphoma"], "xref": ["DOID:13996", "GARD:0023024", "ICD9:202.80", "MEDGEN:82986", "NCIT:C4007", "SCTID:449074003", "UMLS:C0278805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001853", "name": "Contact blepharoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13999", "ICD10CM:H10.53", "ICD9:372.22", "MEDGEN:509811", "SCTID:10813004", "UMLS:C0155150", "icd11.foundation:1096051270"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.", "id": "MONDO:0001854", "name": "Lacrimal apparatus disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lacrimal apparatus", "disease or disorder of lacrimal apparatus", "disorder of lacrimal apparatus", "disorder of lacrimal system", "lacrimal apparatus disease", "lacrimal apparatus disease or disorder", "lacrimal system disease", "lacrimal system disorder"], "xref": ["DOID:1400", "EFO:0009455", "ICD9:375", "ICD9:375.69", "ICD9:375.89", "ICD9:375.9", "MEDGEN:5994", "MESH:D007766", "NCIT:C26809", "SCTID:31053003", "UMLS:C0022904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001855", "name": "Rubeosis iridis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14000", "ICD9:364.42", "MEDGEN:488789", "SCTID:51995000", "UMLS:C0154916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001856", "name": "Splenic artery aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14006", "ICD9:442.83", "MEDGEN:510069", "SCTID:70405009", "UMLS:C0155747"]}
{"category": ["biolink:Disease"], "description": "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.", "id": "MONDO:0001857", "name": "Brucella canis brucellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14019", "GARD:0023025", "ICD9:023.3", "MEDGEN:635501", "SCTID:428174001", "UMLS:C0494040"]}
{"category": ["biolink:Disease"], "description": "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.", "id": "MONDO:0001858", "name": "Tietze syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Costochondritis", "Tietze syndrome", "Tietze's disease", "Tietze's syndrome", "costochondral joint syndromic disease", "syndromic disease of costochondral joint"], "xref": ["DOID:14021", "ICD10CM:M94.0", "ICD9:733.6", "MEDGEN:52753", "MESH:D013991", "NCIT:C168333", "SCTID:30128009", "UMLS:C0040213"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001860", "name": "Folic acid deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["folate deficiency anemia", "folate-deficiency anemia", "folate-deficient megaloblastic anemia"], "xref": ["DOID:14026", "ICD10CM:D52", "ICD9:281.2", "MEDGEN:508764", "SCTID:85649008", "UMLS:C0151482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001861", "name": "Malignant parietal pleura tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14032", "MEDGEN:509310", "SCTID:93948004", "UMLS:C0153495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001862", "name": "Malignant visceral pleura tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14033", "MEDGEN:509311", "SCTID:94140004", "UMLS:C0153496"]}
{"category": ["biolink:Disease"], "description": "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.", "id": "MONDO:0001863", "name": "Aorta atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital atresia and stenosis of aorta"], "xref": ["DOID:14037", "ICD10CM:Q25.2", "ICD9:747.22", "MEDGEN:576689", "SCTID:204431007", "UMLS:C0345010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001864", "name": "Residual stage angle-closure glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["residual stage of angle-closure glaucoma"], "xref": ["DOID:1404", "ICD10CM:H40.24", "ICD9:365.24", "MEDGEN:509737", "SCTID:55129006", "UMLS:C0154948"]}
{"category": ["biolink:Disease"], "description": "A bipolar disorder that is characterized by at least one manic or mixed episode.", "id": "MONDO:0001866", "name": "Bipolar i disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bipolar 1 disorder"], "xref": ["DOID:14042", "ICD9:296.50", "ICD9:296.7", "MEDGEN:678499", "SCTID:371596008", "UMLS:C0853193"]}
{"category": ["biolink:Disease"], "description": "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.", "id": "MONDO:0001867", "name": "Phaeohyphomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infection by dematiacious fungi [Phaehyphomycosis]"], "xref": ["DOID:14049", "ICD9:117.8", "MEDGEN:452374", "MESH:D060446", "SCTID:47158003", "UMLS:C0276721", "icd11.foundation:547567937"]}
{"category": ["biolink:Disease"], "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.", "id": "MONDO:0001868", "name": "Primary angle-closure glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1405", "EFO:1001506", "ICD10CM:H40.2", "ICD9:365.2", "ICD9:365.20", "MEDGEN:42225", "NCIT:C34640", "SCTID:392288006", "UMLS:C0017606"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the paraurethral gland.", "id": "MONDO:0001869", "name": "Paraurethral gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of paraurethral gland", "malignant neoplasm of paraurethral gland", "malignant paraurethral gland neoplasm", "malignant tumour of paraurethral gland", "malignant tumour of the paraurethral gland", "paraurethral gland cancer"], "xref": ["DOID:14059", "GARD:0027591", "ICD9:189.4", "MEDGEN:509343", "SCTID:363460002", "UMLS:C0153621", "icd11.foundation:8446067"]}
{"category": ["biolink:Disease"], "description": "Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.", "id": "MONDO:0001870", "name": "Acute poststreptococcal glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:14064", "GARD:0023027", "MEDGEN:140785", "SCTID:68544003", "UMLS:C0403414"]}
{"category": ["biolink:Disease"], "description": "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.", "id": "MONDO:0001871", "name": "Acute diffuse glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["acute diffuse glomerulonephritis", "diffuse glomerulonephritis, acute"], "xref": ["DOID:14066", "GARD:0023028", "MEDGEN:137959", "NCIT:C35587", "SCTID:197585004", "UMLS:C0341689"]}
{"category": ["biolink:Disease"], "description": "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.", "id": "MONDO:0001873", "name": "Geniculate ganglionitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["geniculate ganglion inflammation", "geniculate ganglionitis", "inflammation of geniculate ganglion"], "xref": ["DOID:14075", "ICD10CM:G51.1", "ICD9:351.1", "MEDGEN:4879", "SCTID:72839009", "UMLS:C0017407", "icd11.foundation:305361524"]}
{"category": ["biolink:Disease"], "description": "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicylic acid, amiodarone, quinine, cisplatin, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.", "id": "MONDO:0001874", "name": "Toxic labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14081", "ICD9:386.34", "MEDGEN:509996", "SCTID:3344003", "SCTID:9062008", "UMLS:C0155507"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lateral epicondyle.", "id": "MONDO:0001875", "name": "Epicondylitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ectepicondyle of humerus inflammation", "inflammation of ectepicondyle of humerus", "lateral epicondylitis"], "xref": ["DOID:14087", "EFO:1001887", "ICD10CM:M77.1", "ICD9:726.32", "MEDGEN:4090", "MESH:D013716", "NCIT:C34589", "SCTID:202855006", "UMLS:C0014488"]}
{"category": ["biolink:Disease"], "description": "A atherosclerosis that involves the renal artery.", "id": "MONDO:0001876", "name": "Renal artery atheroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atherosclerosis of renal artery", "renal artery atherosclerosis"], "xref": ["DOID:14092", "ICD10CM:I70.1", "ICD9:440.1", "MEDGEN:510062", "SCTID:45281005", "UMLS:C0155734", "icd11.foundation:975345242"]}
{"category": ["biolink:Disease"], "description": "A male infertility disorder caused by conditions external to the testis, such as hormonal imbalances, reproductive tract obstructions, or systemic illness.", "id": "MONDO:0001877", "name": "Infertility due to extratesticular cause", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infertility due to extratesticular causes"], "xref": ["DOID:14096", "ICD9:606.8", "MEDGEN:507846", "SCTID:84245004", "UMLS:C0021360"]}
{"category": ["biolink:Disease"], "description": "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.", "id": "MONDO:0001878", "name": "Acquired hypertrophic pyloric stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired hypertrophic pyloric stenosis"], "xref": ["DOID:14099", "ICD9:537.0", "MEDGEN:675190", "SCTID:266438007", "UMLS:C0700588"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the anus", "id": "MONDO:0001879", "name": "Anus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anus cancer", "cancer of anus", "malignant anal neoplasm", "malignant anal tumor", "malignant anal tumour", "malignant anus neoplasm", "malignant neoplasm of anus", "malignant neoplasm of the anus", "malignant tumor of anus", "malignant tumor of the anus", "malignant tumour of anus", "malignant tumour of the anus"], "xref": ["DOID:14110", "GARD:0009300", "ICD9:154.3", "MEDGEN:56303", "NCIT:C7379", "UMLS:C0153446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001880", "name": "Median rhomboid glossitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["persistent tuberculum impar"], "xref": ["DOID:14111", "ICD10CM:K14.2", "ICD9:529.2", "ICD9:750.19", "MEDGEN:510155", "SCTID:7522008", "UMLS:C0155963", "icd11.foundation:598142773"]}
{"category": ["biolink:Disease"], "description": "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.", "id": "MONDO:0001881", "name": "Toxic shock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TSS", "TSS, toxic shock syndrome", "bacterial TSS", "bacterial toxic-shock syndrome", "shock syndrome (TSS), toxic", "syndrome (TSS), toxic shock", "toxic shock syndrome", "toxic shock syndrome, (TSS)"], "xref": ["DOID:14115", "GARD:0009560", "ICD10CM:A48.3", "ICD9:040.82", "MEDGEN:109414", "MESH:D012772", "NCIT:C35498", "NORD:1782", "Orphanet:36234", "SCTID:18504008", "UMLS:C0600327", "icd11.foundation:114886962"]}
{"category": ["biolink:Disease"], "description": "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.", "id": "MONDO:0001882", "name": "Bacteriuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bacteriuria", "bacteriuria (disease)"], "xref": ["CSP:3045-9976", "DOID:1412", "HP:0012461", "MEDGEN:491", "MESH:D001437", "MedDRA:10004056", "UMLS:C0004659", "icd11.foundation:626563645"]}
{"category": ["biolink:Disease"], "description": "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.", "id": "MONDO:0001883", "name": "Blue toe syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["purple toe syndrome", "trash foot", "warfarin blue toe syndrome"], "xref": ["DOID:14121", "MEDGEN:66940", "MESH:D018438", "UMLS:C0242645"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a abducens nerve.", "id": "MONDO:0001884", "name": "Abducens nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VIth cranial nerve neoplasms", "VIth cranial nerve tumors", "VIth cranial nerve tumours", "abducens nerve neoplasm (disease)", "abducens nerve neoplasms", "abducens nerve tumor", "abducens nerve tumors", "abducens nerve tumour", "abducens nerve tumours", "neoplasm of abducens nerve", "neoplasm of sixth cranial nerve", "neoplasm of the abducens nerve", "neoplasm of the sixth cranial nerve", "sixth cranial nerve neoplasm", "sixth cranial nerve neoplasms", "sixth cranial nerve tumor", "sixth cranial nerve tumors", "sixth cranial nerve tumour", "sixth cranial nerve tumours", "tumor of abducens nerve", "tumor of sixth cranial nerve", "tumor of the abducens nerve", "tumor of the sixth cranial nerve", "tumour of abducens nerve", "tumour of sixth cranial nerve", "tumour of the abducens nerve", "tumour of the sixth cranial nerve"], "xref": ["DOID:14125", "ICD9:239.7", "MEDGEN:224732", "NCIT:C5826", "SCTID:126972009", "UMLS:C1263898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001885", "name": "Lateral cystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14130", "ICD10CM:N81.12", "ICD9:618.02", "MEDGEN:751516", "SCTID:441891001", "UMLS:C2711750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001886", "name": "Midline cystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14131", "ICD10CM:N81.11", "ICD9:618.01", "MEDGEN:733480", "SCTID:423633003", "UMLS:C1456248"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.", "id": "MONDO:0001887", "name": "Allen-masters syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Broad ligament laceration syndrome"], "xref": ["DOID:14133", "ICD9:620.6", "MEDGEN:508875", "SCTID:69186005", "UMLS:C0152079"]}
{"category": ["biolink:Disease"], "description": "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.", "id": "MONDO:0001888", "name": "Anus lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal lymphoma", "anus lymphoma", "lymphoma of anus", "lymphoma of the anus", "primary anal lymphoma"], "xref": ["DOID:14139", "GARD:0023029", "MEDGEN:272308", "NCIT:C5601", "UMLS:C1332268"]}
{"category": ["biolink:Disease"], "description": "The inability of the ovaries to function.", "id": "MONDO:0001889", "name": "Ovarian insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ovarian failure", "ovarian hypofunction", "ovarian insufficiency"], "xref": ["DOID:1414", "EFO:0009003", "ICD10CM:E28", "ICD10WHO:E28", "ICD9:256.3", "ICD9:256.39", "ICD9:256.8", "ICD9:256.9", "MEDGEN:509544", "NCIT:C113351", "SCTID:37102008", "UMLS:C0154208", "icd11.foundation:1801368748"]}
{"category": ["biolink:Disease"], "description": "A tooth erosion, non-bacterial that involves the dental pulp.", "id": "MONDO:0001890", "name": "Pulp erosion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dental pulp tooth erosion, non-bacterial", "tooth erosion, non-bacterial of dental pulp"], "xref": ["DOID:14140", "ICD9:521.33", "MEDGEN:1843466", "UMLS:C1456163"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.", "id": "MONDO:0001892", "name": "Spinal cord lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of spinal cord", "lymphoma of the spinal cord", "primary spinal cord lymphoma", "spinal cord lymphoma"], "xref": ["DOID:14150", "GARD:0023030", "MEDGEN:236836", "NCIT:C5157", "UMLS:C1336044"]}
{"category": ["biolink:Disease"], "description": "A melanoma (disease) that involves the spinal cord.", "id": "MONDO:0001893", "name": "Spinal cord melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["melanoma (disease) of spinal cord", "melanoma of spinal cord", "melanoma of the spinal cord", "spinal cord melanoma", "spinal cord melanoma (disease)"], "xref": ["DOID:14151", "GARD:0023031", "MEDGEN:236837", "NCIT:C5158", "UMLS:C1336045"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that arises from the spinal cord.", "id": "MONDO:0001894", "name": "Spinal cord sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["sarcoma of spinal cord", "sarcoma of the spinal cord", "spinal cord sarcoma"], "xref": ["DOID:14152", "GARD:0023032", "MEDGEN:233459", "NCIT:C5152", "UMLS:C1336049"]}
{"category": ["biolink:Disease"], "description": "Acute form of retrobulbar neuritis.", "id": "MONDO:0001895", "name": "Acute retrobulbar neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["retrobulbar neuritis (acute)", "retrobulbar neuritis, acute"], "xref": ["DOID:14155", "GARD:0027592", "ICD9:377.32", "MEDGEN:509901", "SCTID:51604006", "UMLS:C0155301"]}
{"category": ["biolink:Disease"], "description": "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.", "id": "MONDO:0001896", "name": "Obstructive hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-communicating hydrocephalus"], "xref": ["DOID:14159", "ICD10CM:G91.1", "ICD9:331.4", "MEDGEN:108198", "NCIT:C116347", "SCTID:230746009", "UMLS:C0549423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001897", "name": "Bilateral hyperactive labyrinth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperactive labyrinth, bilateral"], "xref": ["DOID:14165", "ICD9:386.52", "MEDGEN:510002", "SCTID:194373002", "UMLS:C0155516"]}
{"category": ["biolink:Disease"], "description": "A disease involving the optic choroid.", "id": "MONDO:0001898", "name": "Optic choroid disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["choroid disorder", "disease of optic choroid", "disease or disorder of optic choroid", "disorder of optic choroid", "optic choroid disease", "optic choroid disease or disorder"], "xref": ["DOID:1417", "ICD9:363.8", "ICD9:363.9", "MEDGEN:892839", "MESH:D015862", "NCIT:C34468", "SCTID:128468007", "UMLS:C4025836"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001899", "name": "Rheumatic congestive heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rheumatic heart failure", "rheumatic heart failure (congestive)"], "xref": ["DOID:14172", "ICD10CM:I09.81", "ICD9:398.91", "MEDGEN:510028", "SCTID:82523003", "UMLS:C0155582"]}
{"category": ["biolink:Disease"], "description": "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.", "id": "MONDO:0001901", "name": "Selective igg subclass deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["selective Immunoglobulin G subclass deficiency"], "xref": ["DOID:14176", "GARD:0023033", "ICD9:279.03", "MEDGEN:56446", "MESH:D017099", "NCIT:C27024", "SCTID:190981001", "UMLS:C0162539"]}
{"category": ["biolink:Disease"], "description": "An instance of agammaglobulinemia that is present from birth.", "id": "MONDO:0001902", "name": "Congenital agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital agammaglobulinemia", "congenital hypogammaglobulinemia (finding)"], "xref": ["DOID:14177", "GARD:0023034", "ICD9:279.04", "MEDGEN:1806025", "UMLS:C5574711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001903", "name": "Calcific tendinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:14181", "GARD:0023035", "ICD10CM:M65.2", "ICD9:726.11", "MEDGEN:636635", "SCTID:95414005", "UMLS:C0521515", "icd11.foundation:856383808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001904", "name": "Polyneuropathy due to drug", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14184", "ICD9:357.6", "MEDGEN:509649", "NCIT:C215367", "SCTID:7339009", "UMLS:C0154762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001905", "name": "Bicipital tenosynovitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14192", "GARD:0023037", "ICD9:726.12", "MEDGEN:510505", "SCTID:41137001", "UMLS:C0158304", "icd11.foundation:1292787411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001906", "name": "Posterior dislocation of lens", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14199", "ICD10CM:H27.13", "ICD9:379.34", "MEDGEN:509942", "SCTID:14169000", "UMLS:C0155373", "icd11.foundation:516761725"]}
{"category": ["biolink:Disease"], "description": "Dermatomyositis in an adult.", "id": "MONDO:0001907", "name": "Adult dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dermatomyositis of adults"], "xref": ["DOID:14202", "GARD:0023038", "MEDGEN:66356", "NCIT:C27313", "SCTID:402425006", "UMLS:C0221056", "icd11.foundation:544509908"]}
{"category": ["biolink:Disease"], "description": "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.", "id": "MONDO:0001909", "name": "Renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:14219", "GARD:0007552", "ICD9:588.89", "MEDGEN:90", "MESH:D000141", "NANDO:2100019", "NANDO:2200144", "SCTID:1776003", "UMLS:C0001126", "icd11.foundation:1272869150"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.", "id": "MONDO:0001910", "name": "Ochronosis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["ochronosis"], "xref": ["DOID:14223", "GARD:0007231", "HP:0030764", "ICD9:270.2", "MEDGEN:45177", "MESH:D009794", "NCIT:C84938", "SCTID:410042009", "UMLS:C0028817"]}
{"category": ["biolink:Disease"], "description": "Abnormal deposits of calcium in the tracheal tissue.", "id": "MONDO:0001911", "name": "Tracheal calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14224", "HP:0002787", "ICD9:519.19", "MEDGEN:75539", "SCTID:81089005", "UMLS:C0264324"]}
{"category": ["biolink:Disease"], "description": "Acute form of frontal sinusitis.", "id": "MONDO:0001912", "name": "Acute frontal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["frontal sinusitis, acute"], "xref": ["DOID:14225", "ICD10CM:J01.1", "ICD9:461.1", "MEDGEN:510087", "SCTID:91038008", "UMLS:C0155805", "icd11.foundation:86893536"]}
{"category": ["biolink:Disease"], "description": "Decreased number of spermatozoa in the semen.", "id": "MONDO:0001913", "name": "Oligospermia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14228", "HP:0000798", "ICD10CM:N46.1", "ICD9:606.1", "MEDGEN:18162", "MESH:D009845", "UMLS:C0028960", "icd11.foundation:1497721709"]}
{"category": ["biolink:Disease"], "description": "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.", "id": "MONDO:0001914", "name": "Scleromalacia perforans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14230", "ICD10CM:H15.05", "ICD9:379.04", "MEDGEN:509929", "SCTID:26664005", "UMLS:C0155354", "icd11.foundation:740830358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001915", "name": "Orbital cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["orbit cyst"], "xref": ["DOID:14233", "HP:0001144", "ICD9:376.81", "MEDGEN:56359", "SCTID:31021007", "UMLS:C0155285", "icd11.foundation:1244231313"]}
{"category": ["biolink:Disease"], "description": "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.", "id": "MONDO:0001916", "name": "Gastrointestinal tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["enteric tularemia"], "xref": ["DOID:14239", "GARD:0023039", "ICD10CM:A21.3", "ICD9:021.1", "ICD9:021.8", "MEDGEN:1684658", "UMLS:C0494039"]}
{"category": ["biolink:Disease"], "description": "Chronic form of perichondritis of auricle.", "id": "MONDO:0001917", "name": "Chronic perichondritis of pinna", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic perichondritis of auricle", "perichondritis of auricle, chronic"], "xref": ["DOID:14243", "ICD9:380.02", "MEDGEN:509947", "SCTID:45431004", "UMLS:C0155391"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001918", "name": "Epiphora due to excess lacrimation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14244", "ICD10CM:H04.21", "ICD9:375.21", "MEDGEN:509861", "SCTID:31788005", "UMLS:C0155233", "icd11.foundation:255772124"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001919", "name": "Cystoid macular retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystoid macular degeneration of retina"], "xref": ["DOID:14245", "ICD9:362.53", "MEDGEN:472900", "SCTID:14046000", "UMLS:C0154850"]}
{"category": ["biolink:Disease"], "description": "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.", "id": "MONDO:0001920", "name": "Chronic purulent otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CSOM", "chronic suppurative otitis Media", "chronic suppurative otitis media", "suppurative otitis media, chronic"], "xref": ["DOID:14247", "ICD9:382.3", "MEDGEN:543356", "NCIT:C128386", "SCTID:38394007", "UMLS:C0271454", "icd11.foundation:669695172"]}
{"category": ["biolink:Disease"], "description": "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.", "id": "MONDO:0001921", "name": "Chronic atticoantral disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic atticoantral suppurative otitis media"], "xref": ["DOID:14248", "ICD10CM:H66.2", "ICD9:382.2", "MEDGEN:509967", "SCTID:267759006", "UMLS:C0155441"]}
{"category": ["biolink:Disease"], "description": "An abscess that is located in the ureter.", "id": "MONDO:0001922", "name": "Pyoureter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ureter abscess"], "xref": ["DOID:1425", "ICD9:593.89", "MEDGEN:19600", "NCIT:C35666", "SCTID:85884009", "UMLS:C0034223", "icd11.foundation:692694709"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001923", "name": "Vitreoretinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vitreoretinal dystrophies"], "xref": ["DOID:14251", "GARD:0023040", "ICD10CM:H35.51", "ICD9:362.73", "MEDGEN:509690", "SCTID:79556007", "UMLS:C0154863", "icd11.foundation:817777781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001924", "name": "Dystrophies primarily involving the retinal pigment epithelium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14252", "GARD:0023041", "ICD10CM:H35.54", "MEDGEN:1843460", "UMLS:C0154865", "icd11.foundation:1387676300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001925", "name": "Retinal dystrophy in systemic or cerebroretinal lipidoses", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14253", "GARD:0023042", "ICD9:362.71", "MEDGEN:1843490", "SCTID:15059000", "SCTID:192788009", "UMLS:C0154861"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder affecting the ureter.", "id": "MONDO:0001926", "name": "Ureteral disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of ureter", "disease or disorder of ureter", "disorder of ureter", "ureter disease", "ureter disease or disorder", "ureter disorder", "ureteric disease", "ureteric disorder"], "xref": ["DOID:1426", "MEDGEN:98018", "MESH:D014515", "NCIT:C27148", "SCTID:128073008", "UMLS:C0403608"]}
{"category": ["biolink:Disease"], "description": "Dysfunction of the pulmonary valve characterized by incomplete valve closure.", "id": "MONDO:0001927", "name": "Pulmonary valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonary regurgitation", "pulmonary valve regurgitation", "pulmonary valvular regurgitation", "regurgitation, pulmonary"], "xref": ["DOID:14265", "MEDGEN:11031", "MESH:D011665", "NANDO:2200305", "NCIT:C50848", "SCTID:194995005", "UMLS:C0034088", "icd11.foundation:1093888988"]}
{"category": ["biolink:Disease"], "description": "Cholangitis that is characterized by pyogenic organisms.", "id": "MONDO:0001928", "name": "Suppurative cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["suppurative cholangitis"], "xref": ["DOID:14269", "MEDGEN:82766", "NCIT:C35336", "SCTID:69850007", "UMLS:C0267924", "icd11.foundation:32799822"]}
{"category": ["biolink:Disease"], "description": "Acute infection of the bile ducts caused by bacteria ascending from the small intestine.", "id": "MONDO:0001929", "name": "Ascending cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ascending cholangitis"], "xref": ["DOID:14270", "MEDGEN:81387", "NCIT:C35372", "SCTID:26918003", "UMLS:C0311273"]}
{"category": ["biolink:Disease"], "description": "Cholangitis that is both sudden in onset and of a relatively short duration.", "id": "MONDO:0001930", "name": "Acute cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute cholangitis", "cholangitis, acute"], "xref": ["DOID:14271", "MEDGEN:82764", "NCIT:C35334", "SCTID:6215006", "UMLS:C0267917"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the tissue surrounding the biliary ducts.", "id": "MONDO:0001931", "name": "Pericholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14272", "MEDGEN:18381", "NCIT:C34916", "SCTID:111373008", "UMLS:C0031052"]}
{"category": ["biolink:Disease"], "description": "A disease involving the endocrine pancreas.", "id": "MONDO:0001933", "name": "Endocrine pancreas disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of endocrine pancreas", "disease or disorder of endocrine pancreas", "disorder of endocrine pancreas", "endocrine pancreas disease", "endocrine pancreas disease or disorder", "endocrine pancreas disorder"], "xref": ["DOID:1428", "ICD9:251", "MEDGEN:124407", "NCIT:C27067", "SCTID:17346000", "UMLS:C0271633"]}
{"category": ["biolink:Disease"], "description": "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)", "id": "MONDO:0001935", "name": "Neurogenic arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arthropathy associated with neurological disorder", "neuropathic arthropathy", "neuropathic arthropathy (& Charcot's)"], "xref": ["DOID:14286", "EFO:1001378", "ICD10CM:M14.6", "ICD9:713.5", "MEDGEN:13919", "MESH:D001177", "SCTID:359554008", "UMLS:C0003892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001936", "name": "Brawny scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14287", "ICD10CM:H15.02", "ICD9:379.06", "MEDGEN:509931", "SCTID:91612009", "UMLS:C0155356", "icd11.foundation:1606860546"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.", "id": "MONDO:0001938", "name": "Vulvar dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14292", "ICD9:624.0", "ICD9:624.09", "MEDGEN:3942", "NCIT:C34565", "SCTID:51689003", "UMLS:C0013426"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.", "id": "MONDO:0001939", "name": "Skin epithelioid hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiolymphoid cutaneous hyperplasia", "angiolymphoid hyperplasia of skin", "angiolymphoid hyperplasia of the skin", "epithelioid hemangioma of skin", "epithelioid hemangioma of the skin", "histiocytoid hemangioma of skin", "histiocytoid hemangioma of the skin", "histiocytoid hemangioma of zone of skin", "skin epithelioid hemangioma", "zone of skin histiocytoid hemangioma"], "xref": ["DOID:14308", "GARD:0027042", "MEDGEN:297", "NCIT:C7393", "SCTID:400131007", "UMLS:C0002989"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.", "id": "MONDO:0001940", "name": "Pleuropneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14319", "MEDGEN:18524", "MESH:D011001", "SCTID:60485005", "UMLS:C0032241", "icd11.foundation:1272236893"]}
{"category": ["biolink:Disease"], "description": "The lack of vision. It is caused by neurological or physiological factors.", "id": "MONDO:0001941", "name": "Blindness (disorder)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1432", "ICD10CM:H54", "ICD9:369", "MEDGEN:99138", "MESH:D001766", "NCIT:C97109", "SCTID:105597003", "UMLS:C0456909"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.", "id": "MONDO:0001942", "name": "Generalized anxiety disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GAD"], "xref": ["DOID:14320", "EFO:1001892", "ICD10CM:F41.1", "ICD9:300.02", "MEDGEN:452363", "NCIT:C92622", "SCTID:21897009", "UMLS:C0270549"]}
{"category": ["biolink:Disease"], "description": "Malaria resulting from infection by Plasmodium malariae.", "id": "MONDO:0001943", "name": "Plasmodium malariae malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["quartan malaria"], "xref": ["DOID:14324", "GARD:0023043", "ICD10CM:B52", "ICD10WHO:B52", "ICD9:084.2", "MEDGEN:44259", "NCIT:C34799", "SCTID:27618009", "UMLS:C0024536"]}
{"category": ["biolink:Disease"], "description": "A malaria that involves infection with more than one species of Plasmodium at the same time.", "id": "MONDO:0001944", "name": "Mixed malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14325", "GARD:0023044", "ICD9:084.5", "MEDGEN:509155", "SCTID:21070001", "UMLS:C0153121"]}
{"category": ["biolink:Disease"], "description": "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.", "id": "MONDO:0001945", "name": "Postencephalitic parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["postencephalitic Parkinsonism", "postencephalitic parkinsonism"], "xref": ["DOID:14332", "EFO:1001402", "GARD:0019370", "ICD10CM:G21.3", "MEDGEN:10591", "MESH:D010301", "NCIT:C34898", "Orphanet:97349", "SCTID:19972008", "UMLS:C0030568"]}
{"category": ["biolink:Disease"], "description": "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.", "id": "MONDO:0001947", "name": "Suppurative thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute suppurative thyroiditis"], "xref": ["DOID:14350", "EFO:1001431", "MEDGEN:21550", "MESH:D013969", "NCIT:C129724", "SCTID:25476006", "UMLS:C0040150"]}
{"category": ["biolink:Disease"], "description": "Acute form of thyroiditis (disease).", "id": "MONDO:0001949", "name": "Acute thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute thyroiditis (disease)", "thyroiditis (disease), acute"], "xref": ["DOID:14353", "ICD10CM:E06.0", "ICD9:245.0", "MEDGEN:507399", "SCTID:190293001", "UMLS:C0001360", "icd11.foundation:737694495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001950", "name": "Corneal ectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1436", "ICD10CM:H18.71", "ICD9:371.71", "MEDGEN:509803", "SCTID:14748007", "UMLS:C0155135", "icd11.foundation:1703179358"]}
{"category": ["biolink:Disease"], "description": "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.", "id": "MONDO:0001951", "name": "Norwegian scabies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14374", "GARD:0012151", "MEDGEN:14409", "NCIT:C34855", "SCTID:128870005", "UMLS:C0028425"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the parietal lobe", "id": "MONDO:0001952", "name": "Parietal lobe cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of parietal lobe", "malignant neoplasm of parietal lobe", "malignant parietal lobe neoplasm", "parietal lobe cancer"], "xref": ["DOID:14384", "GARD:0027593", "ICD10CM:C71.3", "ICD9:191.3", "MEDGEN:509348", "SCTID:363469001", "UMLS:C0153637", "icd11.foundation:1752773718"]}
{"category": ["biolink:Disease"], "description": "The presence of excessive white blood cells in the urine as determined by urinalysis.", "id": "MONDO:0001953", "name": "Pyuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pus cells in urine", "pyuria", "pyuria (disease)"], "xref": ["DOID:1439", "HP:0012085", "MEDGEN:11078", "MESH:D011776", "UMLS:C0034359", "icd11.foundation:2000630356"]}
{"category": ["biolink:Disease"], "description": "A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.", "id": "MONDO:0001954", "name": "Thrombophlebitis migrans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:14392", "GARD:0023045", "ICD10CM:I82.1", "ICD9:453.1", "MEDGEN:508947", "SCTID:31268005", "UMLS:C0152250", "icd11.foundation:674623750"]}
{"category": ["biolink:Disease"], "description": "A dysentery that involves protozoan infection.", "id": "MONDO:0001955", "name": "Protozoal dysentery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14397", "ICD9:007.8", "MEDGEN:1843396", "UMLS:C2142761"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.", "id": "MONDO:0001956", "name": "Capillary leak syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AVLS", "CLS", "Clarkson disease", "SCLS", "Systemic Capillary Leak Syndrome", "acute vascular leak syndrome", "capillary hyperpermeability syndrome", "capillary leak syndrome", "idiopathic capillary leak syndrome", "systemic capillary leak syndrome"], "xref": ["DOID:14400", "EFO:1001284", "GARD:0001084", "ICD9:448.9", "MEDGEN:137987", "MESH:D019559", "MedDRA:10007196", "NCIT:C62578", "Orphanet:188", "SCTID:87730004", "UMLS:C0343084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001957", "name": "Critical illness polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14402", "GARD:0023046", "ICD10CM:G62.81", "ICD9:357.82", "MEDGEN:140748", "SCTID:230594005", "UMLS:C0393851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001959", "name": "Labyrinthine bilateral reactive loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["loss of labyrinthine reactivity, bilateral"], "xref": ["DOID:14413", "ICD9:386.56", "MEDGEN:510006", "SCTID:194377001", "UMLS:C0155520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001962", "name": "Abnormality of glucagon secretion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14427", "ICD9:251.4", "MEDGEN:509540", "SCTID:11178005", "UMLS:C0154191"]}
{"category": ["biolink:Disease"], "description": "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.", "id": "MONDO:0001964", "name": "Chronic tubotympanic suppurative otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14435", "ICD10CM:H66.1", "ICD9:382.1", "MEDGEN:509966", "SCTID:87665008", "UMLS:C0155440", "icd11.foundation:1770220148"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001965", "name": "Sclerosing keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14444", "ICD10CM:H16.33", "ICD9:370.54", "MEDGEN:509781", "SCTID:27886001", "UMLS:C0155090", "icd11.foundation:219361296"]}
{"category": ["biolink:Disease"], "description": "Chronic form of angle-closure glaucoma.", "id": "MONDO:0001966", "name": "Chronic closed-angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anatomical narrow angle glaucoma", "angle-closure glaucoma, chronic", "chronic angle-closure glaucoma"], "xref": ["DOID:14445", "ICD10CM:H40.22", "ICD9:365.23", "MEDGEN:509736", "SCTID:33647009", "UMLS:C0154947"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.", "id": "MONDO:0001967", "name": "Gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:14447", "GARD:0002538", "ICD9:758.6", "MEDGEN:9075", "MESH:D006059", "NCIT:C61420", "SCTID:205681004", "UMLS:C0018051"]}
{"category": ["biolink:Disease"], "description": "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.", "id": "MONDO:0001969", "name": "Mixed gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:14449", "GARD:0002539", "MEDGEN:6654", "MESH:D006060", "NANDO:2200388", "SCTID:83579008", "UMLS:C0018055"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.", "id": "MONDO:0001971", "name": "Farmer's lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["farmer lung", "farmer's lung"], "xref": ["DOID:14453", "GARD:0006427", "ICD10CM:J67.0", "ICD9:495.0", "MEDGEN:8785", "MedDRA:10016221", "NCIT:C34605", "Orphanet:99906", "SCTID:18690003", "UMLS:C0015634", "icd11.foundation:666590509"]}
{"category": ["biolink:Disease"], "description": "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.", "id": "MONDO:0001972", "name": "Brucella melitensis brucellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14456", "GARD:0023047", "ICD9:023.0", "MEDGEN:549869", "SCTID:427999003", "UMLS:C0302362"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.", "id": "MONDO:0001973", "name": "Brucella abortus brucellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:14457", "GARD:0023048", "ICD9:023.1", "MEDGEN:81294", "SCTID:427795000", "UMLS:C0302363"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the orbit.", "id": "MONDO:0001974", "name": "Hemangioma of orbit", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of orbit", "angioma of the orbit", "hemangioma of the orbit", "orbit angioma", "orbit hemangioma"], "xref": ["DOID:14459", "ICD9:228.09", "MEDGEN:233268", "NCIT:C6245", "SCTID:121951000119101", "UMLS:C1335128"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma arising from the orbit.", "id": "MONDO:0001975", "name": "Cavernous hemangioma of orbit", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cavernous angioma of orbit", "cavernous angioma of the orbit", "cavernous hemangioma of the orbit", "orbit cavernous angioma", "orbit cavernous hemangioma"], "xref": ["DOID:14463", "GARD:0023049", "ICD9:228.09", "MEDGEN:138059", "NCIT:C4546", "SCTID:254998002", "UMLS:C0346352"]}
{"category": ["biolink:Disease"], "description": "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)", "id": "MONDO:0001976", "name": "Chorea gravidarum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:14483", "GARD:0023050", "ICD9:646.80", "MEDGEN:75545", "MESH:D020150", "SCTID:25113000", "UMLS:C0264746", "icd11.foundation:113562578"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that involves the ureter.", "id": "MONDO:0001977", "name": "Ureteral lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of the ureter", "lymphoma of ureter", "primary ureter lymphoma", "ureter lymphoma", "ureteral lymphoma"], "xref": ["DOID:14489", "GARD:0023051", "MEDGEN:234458", "NCIT:C6175", "UMLS:C1336876"]}
{"category": ["biolink:Disease"], "description": "Carcinoma of the ureter without spread to any other region.", "id": "MONDO:0001978", "name": "Regional ureteric cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["regional malignant ureteral tumour", "regional ureter carcinoma"], "xref": ["DOID:14491", "MEDGEN:167733", "NCIT:C9356", "UMLS:C0854921"]}
{"category": ["biolink:Disease"], "description": "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.", "id": "MONDO:0001979", "name": "Dumping syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["jejunal syndrome"], "xref": ["DOID:14495", "EFO:1001307", "MEDGEN:8501", "MESH:D004377", "NCIT:C2994", "UMLS:C0013288", "icd11.foundation:237191235"]}
{"category": ["biolink:Disease"], "description": "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.", "id": "MONDO:0001982", "name": "Niemann-pick disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, subacute juvenile form", "lipoid histiocytosis (classical phosphatide)", "sphingomyelin/cholesterol lipidosis"], "xref": ["DOID:14504", "EFO:1001380", "GARD:0013334", "ICD10CM:E75.24", "MEDGEN:10348", "MESH:D009542", "NANDO:2200561", "NCIT:C61269", "SCTID:58459009", "UMLS:C0028064", "icd11.foundation:398872780"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001983", "name": "Peripheral degeneration of cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral degenerations of cornea"], "xref": ["DOID:14507", "ICD9:371.48", "MEDGEN:509800", "SCTID:89182000", "UMLS:C0155123"]}
{"category": ["biolink:Disease"], "description": "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.", "id": "MONDO:0001984", "name": "Candidal paronychia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14512", "ICD9:112.3", "MEDGEN:705794", "SCTID:187014000", "UMLS:C1282977"]}
{"category": ["biolink:Disease"], "description": "A partial occlusion of the retinal artery.", "id": "MONDO:0001985", "name": "Partial arterial retinal occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["partial retinal arterial occlusion"], "xref": ["DOID:14522", "ICD9:362.33", "MEDGEN:57599", "NCIT:C35192", "SCTID:776009", "UMLS:C0154839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001986", "name": "Argyll robertson pupil", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Argyll Robertson pupil, atypical"], "xref": ["DOID:14523", "ICD10CM:H57.01", "ICD9:379.45", "MEDGEN:536150", "SCTID:21011008", "UMLS:C0234668", "icd11.foundation:1086796982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001987", "name": "Senile degeneration of brain", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14524", "ICD9:331.2", "MEDGEN:509626", "SCTID:45864009", "UMLS:C0154669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001988", "name": "External pathological resorption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14529", "ICD9:521.42", "MEDGEN:540236", "SCTID:41918006", "UMLS:C0266878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001989", "name": "Atrophic glossitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrophy of tongue papillae"], "xref": ["DOID:1453", "ICD10CM:K14.4", "ICD9:529.4", "MEDGEN:510156", "SCTID:9491003", "UMLS:C0155964"]}
{"category": ["biolink:Disease"], "description": "A very rare malignant peripheral nerve sheath tumor that arises from the heart.", "id": "MONDO:0001990", "name": "Malignant cardiac peripheral nerve sheath neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CARDIAC schwannoma, malignant", "Cardiac MPNST", "Cardiac malignant peripheral nerve sheath tumor", "Cardiac malignant peripheral nerve sheath tumour", "MPNST of heart", "MPNST of the heart", "heart MPNST", "heart malignant peripheral nerve sheath tumor", "heart malignant peripheral nerve sheath tumour", "malignant Cardiac neurilemmoma", "malignant Cardiac peripheral nerve sheath neoplasm", "malignant Cardiac peripheral nerve sheath tumor", "malignant Cardiac peripheral nerve sheath tumour", "malignant Cardiac schwannoma", "malignant heart neurilemmoma", "malignant heart peripheral nerve sheath neoplasm", "malignant heart peripheral nerve sheath tumor", "malignant heart peripheral nerve sheath tumour", "malignant heart schwannoma", "malignant neurilemmoma of heart", "malignant neurilemmoma of the heart", "malignant peripheral nerve sheath neoplasm of heart", "malignant peripheral nerve sheath neoplasm of the heart", "malignant peripheral nerve sheath tumor of heart", "malignant peripheral nerve sheath tumor of the heart", "malignant peripheral nerve sheath tumour of heart", "malignant peripheral nerve sheath tumour of the heart", "malignant schwannoma of heart", "malignant schwannoma of the heart"], "xref": ["DOID:14534", "GARD:0023052", "MEDGEN:233146", "NCIT:C5367", "UMLS:C1334569"]}
{"category": ["biolink:Disease"], "description": "A rare malignant germ cell tumor that arises from the pericardium.", "id": "MONDO:0001991", "name": "Malignant cardiac germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant Cardiac germ cell neoplasm", "malignant Cardiac germ cell tumor", "malignant germ cell neoplasm of heart", "malignant germ cell neoplasm of the heart", "malignant germ cell tumor of heart", "malignant germ cell tumor of the heart", "malignant germ cell tumour of heart", "malignant heart germ cell neoplasm", "malignant heart germ cell tumor", "malignant heart germ cell tumour"], "xref": ["DOID:14535", "GARD:0023053", "MEDGEN:233143", "NCIT:C5371", "UMLS:C1334566"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the rete testis", "id": "MONDO:0001992", "name": "Rete testis adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinoma of rete testis", "adenocarcinoma of the rete testis", "carcinoma, rete testis, malignant", "rete testis adenocarcinoma"], "xref": ["DOID:14544", "MEDGEN:209023", "NCIT:C8955", "UMLS:C0863024"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the seminal vesicle", "id": "MONDO:0001993", "name": "Seminal vesicle adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["seminal vesicle adenocarcinoma"], "xref": ["DOID:14545", "MEDGEN:311271", "NCIT:C39906", "UMLS:C1519233"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the sphenoidal sinus.", "id": "MONDO:0001994", "name": "Sphenoidal sinus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cancer of sphenoidal sinus", "malignant neoplasm of sphenoid sinus", "malignant neoplasm of sphenoidal sinus", "malignant neoplasm of the sphenoid sinus", "malignant neoplasm of the sphenoidal sinus", "malignant sphenoid sinus neoplasm", "malignant sphenoid sinus tumor", "malignant sphenoid sinus tumour", "malignant sphenoidal sinus neoplasm", "malignant sphenoidal sinus tumor", "malignant sphenoidal sinus tumour", "malignant tumor of sphenoid sinus", "malignant tumor of sphenoidal sinus", "malignant tumor of the sphenoid sinus", "malignant tumor of the sphenoidal sinus", "malignant tumour of sphenoid sinus", "malignant tumour of sphenoidal sinus", "malignant tumour of the sphenoid sinus", "malignant tumour of the sphenoidal sinus", "sphenoidal sinus cancer"], "xref": ["DOID:14546", "GARD:0023054", "ICD10CM:C31.3", "ICD9:160.5", "MEDGEN:102273", "NCIT:C3543", "SCTID:363428005", "UMLS:C0153479"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.", "id": "MONDO:0001995", "name": "Sphenoid sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["epidermoid carcinoma of sphenoid sinus", "epidermoid carcinoma of sphenoidal sinus", "epidermoid carcinoma of the sphenoid sinus", "epidermoid carcinoma of the sphenoidal sinus", "sphenoid sinus epidermoid carcinoma", "sphenoid sinus squamous cell carcinoma", "sphenoidal sinus epidermoid carcinoma", "sphenoidal sinus squamous cell carcinoma", "squamous cell carcinoma of sphenoid sinus", "squamous cell carcinoma of sphenoidal sinus", "squamous cell carcinoma of the sphenoid sinus", "squamous cell carcinoma of the sphenoidal sinus"], "xref": ["DOID:14547", "GARD:0023055", "MEDGEN:234802", "NCIT:C6066", "SCTID:707355002", "UMLS:C1336039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0001996", "name": "Steroid-induced glaucoma - borderline", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["steroid responders borderline glaucoma"], "xref": ["DOID:14548", "ICD9:365.03", "MEDGEN:573233", "SCTID:302895007", "UMLS:C0339572"]}
{"category": ["biolink:Disease"], "description": "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)", "id": "MONDO:0001997", "name": "Root resorption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14550", "MEDGEN:11268", "MESH:D012391", "UMLS:C0035851"]}
{"category": ["biolink:Disease"], "description": "An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.", "id": "MONDO:0001998", "name": "Foster-kennedy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14555", "EFO:1001330", "ICD10CM:H47.14", "ICD9:377.04", "MEDGEN:57505", "SCTID:87764000", "UMLS:C0152112", "icd11.foundation:288363660"]}
{"category": ["biolink:Disease"], "description": "A sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. The etiology is unknown.", "id": "MONDO:0001999", "name": "Idiopathic pulmonary arterial hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["IPAH", "idiopathic pulmonary arterial hypertension", "primary pulmonary arterial hypertension", "primary pulmonary hypertension"], "xref": ["DOID:14557", "GARD:0027594", "ICD10CM:I27.0", "ICD9:416.0", "MEDGEN:468368", "MedDRA:10065151", "Orphanet:275766", "SCTID:697898008", "UMLS:C3203102", "icd11.foundation:265520344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002000", "name": "Anaerobic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningitis caused by anaerobic bacteria", "meningitis due to anaerobic bacteria"], "xref": ["DOID:14559", "GARD:0023056", "ICD9:320.81", "MEDGEN:678523", "SCTID:445059005", "UMLS:C0854214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002002", "name": "Postsurgical hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1458", "ICD9:244.0", "MEDGEN:509534", "SCTID:27059002", "UMLS:C0154157"]}
{"category": ["biolink:Disease"], "description": "A cholesterol embolism that involves the kidney.", "id": "MONDO:0002004", "name": "Atheroembolism of kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholesterol embolism of kidney", "kidney cholesterol embolism"], "xref": ["DOID:1460", "ICD10CM:I75.81", "MEDGEN:541484", "UMLS:C0268792"]}
{"category": ["biolink:Disease"], "description": "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.", "id": "MONDO:0002006", "name": "Serous labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1467", "ICD9:386.31", "MEDGEN:509993", "SCTID:41674001", "UMLS:C0155504"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.", "id": "MONDO:0002008", "name": "Labyrinthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of internal ear", "internal ear inflammation", "otitis interna"], "xref": ["DOID:1468", "DOID:3930", "EFO:0009604", "ICD10CM:H83.0", "ICD9:386.3", "ICD9:386.30", "MEDGEN:5991", "MESH:D007762", "NCIT:C128369", "SCTID:23919004", "UMLS:C0022893", "icd11.foundation:901550793"]}
{"category": ["biolink:Disease"], "description": "An episode of depression lasting two or more weeks without an intervening episode of mania.", "id": "MONDO:0002009", "name": "Major depressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["major depression", "major depressive disorder", "major depressive disorder and accelerated response to antidepressant drug treatment", "major depressive disorder, response to citalopram therapy in", "unipolar depression", "unipolar depression, susceptibility to"], "xref": ["DOID:1470", "EFO:0003761", "ICD9:296.2", "ICD9:296.20", "ICD9:296.3", "ICD9:296.30", "MEDGEN:266123", "MESH:D003865", "MFOMD:0000143", "NCIT:C35094", "OMIM:608516", "SCTID:370143000", "UMLS:C1269683"]}
{"category": ["biolink:Disease"], "description": "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.", "id": "MONDO:0002010", "name": "Fg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Keller syndrome"], "xref": ["DOID:14711", "EFO:0009297", "ICD9:759.89", "MEDGEN:113106", "OMIMPS:305450", "Orphanet:323", "SCTID:49984004", "UMLS:C0220769", "icd11.foundation:156523187"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.", "id": "MONDO:0002012", "name": "Methylmalonic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["methylmalonic aciduria"], "xref": ["DOID:14749", "GARD:0007033", "ICD10CM:E71.120", "ICD9:270.7", "MEDGEN:120654", "MESH:C537358", "NANDO:1200793", "NANDO:2200491", "NCIT:C98986", "OMIMPS:251000", "SCTID:42393006", "UMLS:C0268583"]}
{"category": ["biolink:Disease"], "description": "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.", "id": "MONDO:0002013", "name": "Lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["benign lymphangioma (morphologic abnormality)", "lymphangioma", "lymphangioma, benign"], "xref": ["DOID:1475", "ICD9:228.1", "ICDO:9170/0", "MEDGEN:6153", "MESH:D008202", "NANDO:2201032", "NCIT:C8965", "Orphanet:2415", "SCTID:254836000", "SCTID:400178008", "UMLS:C0024221"]}
{"category": ["biolink:Disease"], "description": "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.", "id": "MONDO:0002014", "name": "Autosomal recessive ehlers-danlos syndrome, vascular type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ehlers-Danlos syndrome, vascular type, autosomal recessive"], "xref": ["DOID:14759", "GARD:0023057", "MEDGEN:541287", "SCTID:70610001", "UMLS:C0268340"]}
{"category": ["biolink:Disease"], "description": "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.", "id": "MONDO:0002017", "name": "Olivopontocerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "xref": ["DOID:14784", "GARD:0027595", "ICD9:333.0", "MEDGEN:10435", "MESH:D009849", "NCIT:C84947", "SCTID:67761004", "UMLS:C0028968", "icd11.foundation:1467584080"]}
{"category": ["biolink:Disease"], "description": "A disease involving the gingiva.", "id": "MONDO:0002021", "name": "Gingival disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of gingiva", "disease or disorder of gingiva", "disorder of gingiva", "gingiva disease", "gingiva disease or disorder"], "xref": ["DOID:1483", "EFO:0009670", "MEDGEN:42217", "MESH:D005882", "NCIT:C173795", "SCTID:18718003", "UMLS:C0017563"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the orbital region.", "id": "MONDO:0002022", "name": "Disorder of orbital region", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of orbital region", "disease or disorder of orbital region", "disorder of eye region", "disorder of orbital region", "orbital region disease", "orbital region disease or disorder"], "xref": ["DOID:1492", "ICD10CM:H00-H59", "ICD9:362.10", "MEDGEN:1863347", "SCTID:371409005", "UMLS:C5886742"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.", "id": "MONDO:0002025", "name": "Psychiatric disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["Psychiatric disease", "Psychiatric disorder"], "xref": ["DOID:150", "MESH:D001523", "MFOMD:0000004", "NCIT:C2893"]}
{"category": ["biolink:Disease"], "description": "Infection with the organism Candida.", "id": "MONDO:0002026", "name": "Candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Candida Debaryomycetaceae infection", "Candida infection", "Candidosis", "thrush"], "xref": ["DOID:1508", "ICD10CM:B37", "ICD10WHO:B37", "ICD9:112", "ICD9:112.89", "ICD9:112.9", "MEDGEN:14299", "MESH:D002177", "NCIT:C26711", "SCTID:78048006", "UMLS:C0006840"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.", "id": "MONDO:0002027", "name": "Avoidant personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anxious personality disorder"], "xref": ["DOID:1509", "ICD10CM:F60.6", "ICD9:301.82", "MEDGEN:13985", "NCIT:C92636", "SCTID:231528008", "UMLS:C0004444", "icd11.foundation:429615620"]}
{"category": ["biolink:Disease"], "description": "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.", "id": "MONDO:0002028", "name": "Personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["personality disorder", "personality disorder (disease)"], "xref": ["DOID:1510", "HP:0012075", "ICD9:301.8", "ICD9:301.89", "ICD9:301.9", "MEDGEN:45827", "NCIT:C34922", "SCTID:33449004", "UMLS:C0031212", "icd11.foundation:941859884"]}
{"category": ["biolink:Disease"], "description": "Chronic form of gonococcal cervicitis.", "id": "MONDO:0002029", "name": "Chronic gonorrhea of cervix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonococcal cervicitis, chronic"], "xref": ["DOID:1512", "ICD9:098.35", "MEDGEN:509203", "SCTID:76802005", "UMLS:C0153206"]}
{"category": ["biolink:Disease"], "description": "Chronic inflammation of the cervix.", "id": "MONDO:0002030", "name": "Chronic cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervicitis (disease), chronic", "chronic cervicitis (disease)"], "xref": ["DOID:1513", "MEDGEN:75711", "NCIT:C27057", "SCTID:56728002", "UMLS:C0269062", "icd11.foundation:1495469029"]}
{"category": ["biolink:Disease"], "description": "Pathological developments in the cecum.", "id": "MONDO:0002031", "name": "Cecal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["caecum disease", "caecum disease or disorder", "disease of caecum", "disease or disorder of caecum", "disorder of caecum"], "xref": ["DOID:1518", "MEDGEN:2921", "MESH:D002429", "SCTID:128525008", "UMLS:C0007527"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the colon", "id": "MONDO:0002032", "name": "Colon carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of colon", "carcinoma of the colon", "colon carcinoma", "colonic carcinoma"], "xref": ["DOID:1520", "EFO:1001950", "MEDGEN:147065", "NCIT:C4910", "SCTID:269533000", "UMLS:C0699790", "icd11.foundation:865099988"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the caecum", "id": "MONDO:0002033", "name": "Cecum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["caecum cancer", "cancer of caecum", "malignant caecum neoplasm", "malignant cecum neoplasm", "malignant cecum tumor", "malignant cecum tumour", "malignant neoplasm of caecum", "malignant neoplasm of cecum", "malignant neoplasm of the cecum", "malignant tumor of cecum", "malignant tumor of the cecum", "malignant tumour of cecum", "malignant tumour of the cecum"], "xref": ["DOID:1521", "ICD10CM:C18.0", "ICD9:153.4", "MEDGEN:57557", "NCIT:C9329", "UMLS:C0153437", "icd11.foundation:361612400"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.", "id": "MONDO:0002034", "name": "Cecum lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["caecum lymphoma", "cecal lymphoma", "cecum lymphoma", "lymphoma of caecum", "lymphoma of cecum", "lymphoma of the cecum", "primary cecum lymphoma"], "xref": ["DOID:1522", "GARD:0023058", "MEDGEN:232035", "NCIT:C5515", "UMLS:C1332867"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.", "id": "MONDO:0002035", "name": "Colon lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colon lymphoma", "colonic lymphoma", "lymphoma of colon", "lymphoma of the colon", "primary colon lymphoma"], "xref": ["DOID:1523", "GARD:0023059", "ICD9:202.80", "MEDGEN:101033", "NCIT:C4793", "SCTID:133751000119102", "UMLS:C0519037"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.", "id": "MONDO:0002036", "name": "Penile disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of penis", "disease or disorder of penis", "disorder of penis", "penile disease", "penile disorder", "penis disease", "penis disease or disorder"], "xref": ["DOID:1529", "ICD9:607.8", "ICD9:607.89", "ICD9:607.9", "MEDGEN:10627", "MESH:D010409", "NCIT:C26846", "SCTID:33958003", "UMLS:C0030846"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.", "id": "MONDO:0002037", "name": "Pleural disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of pleura", "disease or disorder of pleura", "disorder of pleura", "pleura disease", "pleura disease or disorder", "pleural disorder", "pleural disorders"], "xref": ["DOID:1532", "ICD9:518.89", "MEDGEN:10804", "MESH:D010995", "NCIT:C26859", "SCTID:88075009", "UMLS:C0032226"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.", "id": "MONDO:0002038", "name": "Head and neck carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of craniocervical region", "carcinoma of head and neck", "carcinoma of neck", "carcinoma of the head and neck", "craniocervical region carcinoma", "head and neck carcinoma", "neck carcinoma"], "xref": ["DOID:1542", "MEDGEN:854345", "NCIT:C35850", "UMLS:C3887461"]}
{"category": ["biolink:Disease"], "description": "A disease affects cognitive processes.", "id": "MONDO:0002039", "name": "Cognitive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cognitive disorder"], "xref": ["DOID:1561", "ICD9:294.9", "MEDGEN:40371", "MESH:D019965", "NCIT:C92196", "SCTID:443265004", "UMLS:C0009241"]}
{"category": ["biolink:Disease"], "description": "Superficial infections of the skin or its appendages by any of various fungi.", "id": "MONDO:0002040", "name": "Dermatomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1563", "ICD9:111", "ICD9:111.9", "MEDGEN:8330", "MESH:D003881", "UMLS:C0011630"]}
{"category": ["biolink:Disease"], "description": "An infection caused by a fungus.", "id": "MONDO:0002041", "name": "Fungal infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Fungi caused disease or disorder", "Fungi disease or disorder", "Fungi infection", "Fungi infectious disease", "mycosis"], "xref": ["DOID:1564", "ICD10CM:B35-B49", "ICD9:110-118", "ICD9:117.9", "MEDGEN:6486", "MESH:D009181", "NCIT:C3245", "SCTID:3218000", "UMLS:C0026946"]}
{"category": ["biolink:Disease"], "description": "An ectropion with a mechanical etiology.", "id": "MONDO:0002042", "name": "Mechanical ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1569", "ICD9:374.12", "MEDGEN:509842", "SCTID:45020000", "UMLS:C0155194"]}
{"category": ["biolink:Disease"], "description": "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)", "id": "MONDO:0002043", "name": "Ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ectropion", "ectropion (disease)", "ectropion of eyelid"], "xref": ["DOID:1570", "HP:0000656", "ICD10CM:H02.1", "ICD9:374.1", "ICD9:374.10", "MEDGEN:4448", "MESH:D004483", "SCTID:62909004", "UMLS:C0013592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002044", "name": "Spastic ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1571", "ICD9:374.13", "MEDGEN:509843", "SCTID:80846000", "UMLS:C0155195"]}
{"category": ["biolink:Disease"], "description": "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.", "id": "MONDO:0002045", "name": "Communicating hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-obstructive hydrocephalus"], "xref": ["DOID:1573", "ICD10CM:G91.0", "ICD9:331.3", "MEDGEN:1058", "NCIT:C34501", "SCTID:271569006", "UMLS:C0009451", "icd11.foundation:186577228"]}
{"category": ["biolink:Disease"], "description": "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice.", "id": "MONDO:0002046", "name": "Alcohol abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcohol abuse"], "xref": ["DOID:1574", "ICD10CM:F10.1", "ICD9:305.0", "ICD9:305.00", "MEDGEN:39339", "MESH:D000437", "SCTID:15167005", "UMLS:C0085762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002047", "name": "Pulmonary systemic sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung involvement in systemic sclerosis", "scleroderma lung disease"], "xref": ["DOID:1578", "GARD:0023060", "ICD9:517.2", "MEDGEN:573414", "SCTID:196133001", "UMLS:C0339904"]}
{"category": ["biolink:Disease"], "description": "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).", "id": "MONDO:0002048", "name": "Thrombocytopenia due to immune destruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immune thrombocytopenia", "thrombocytopenia due to immune destruction"], "xref": ["DOID:1587", "GARD:0006768", "MEDGEN:75778", "NCIT:C3991", "UMLS:C0272286"]}
{"category": ["biolink:Disease"], "description": "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.", "id": "MONDO:0002049", "name": "Thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet count decreased", "thrombocytopenic disorder"], "xref": ["DOID:1588", "ICD9:287.5", "MEDGEN:52737", "MESH:D013921", "NCIT:C3408", "SCTID:302215000", "UMLS:C0040034", "icd11.foundation:683583694"]}
{"category": ["biolink:Disease"], "description": "A melancholy feeling of sadness and despair.", "id": "MONDO:0002050", "name": "Depressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["depression"], "xref": ["DOID:1596", "ICD10CM:F32", "ICD9:311", "MEDGEN:4229", "MESH:D003866", "MFOMD:0000013", "NCIT:C2982", "SCTID:35489007", "UMLS:C0011581"]}
{"category": ["biolink:Disease"], "description": "A disease involving the integumental system.", "id": "MONDO:0002051", "name": "Integumentary system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of integumental system", "disease or disorder of integumental system", "disorder of integumental system", "integumental system disease", "integumental system disease or disorder", "integumentary disease"], "xref": ["DOID:16", "EFO:0010285", "MEDGEN:712400", "SCTID:128598002", "UMLS:C1290011"]}
{"category": ["biolink:Disease"], "description": "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.", "id": "MONDO:0002052", "name": "Lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenitis", "lymph node inflammation", "lymph nodeitis", "lymphadenitis", "lymphadenitis (disease)"], "xref": ["DOID:1602", "HP:0002840", "ICD9:289.1", "ICD9:683", "MEDGEN:7410", "MESH:D008199", "NCIT:C26821", "SCTID:41174002", "UMLS:C0024205", "icd11.foundation:1483611415"]}
{"category": ["biolink:Disease"], "description": "A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.", "id": "MONDO:0002055", "name": "Benign eccrine breast spiradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign breast eccrine spiradenoma", "benign eccrine breast spiradenoma", "benign eccrine spiradenoma of breast", "benign eccrine spiradenoma of the breast"], "xref": ["DOID:1616", "GARD:0027596", "MEDGEN:231933", "NCIT:C5193", "UMLS:C1332492"]}
{"category": ["biolink:Disease"], "description": "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.", "id": "MONDO:0002056", "name": "Breast fibroadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast fibroadenoma", "fibroadenoma", "fibroadenoma of breast", "fibroadenoma of the breast", "fibroadenoma, benign", "juvenile fibroadenoma (morphologic abnormality)"], "xref": ["DOID:1618", "ICDO:9010/0", "MEDGEN:64231", "MESH:D018226", "NCIT:C3744", "ONCOTREE:FA", "SCTID:254847007", "UMLS:C0178421", "icd11.foundation:143326763"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0002057", "name": "Breast leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast leiomyoma", "leiomyoma of breast"], "xref": ["DOID:1623", "MEDGEN:267768", "NCIT:C40399", "UMLS:C1511317", "icd11.foundation:214325738"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.", "id": "MONDO:0002058", "name": "Breast adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast adenoma"], "xref": ["DOID:1625", "MEDGEN:231286", "NCIT:C40382", "UMLS:C1328385"]}
{"category": ["biolink:Disease"], "description": "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.", "id": "MONDO:0002060", "name": "Intraductal papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duct adenoma", "duct papilloma", "ductal papilloma", "intraductal papilloma", "intraductal papilloma (morphologic abnormality)"], "xref": ["DOID:1627", "ICDO:8503/0", "MEDGEN:61667", "MESH:D018300", "NCIT:C3785", "UMLS:C0206713", "icd11.foundation:288706574"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.", "id": "MONDO:0002061", "name": "Intraductal papillary breast neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraductal papillary breast neoplasm"], "xref": ["DOID:1628", "MEDGEN:233572", "NCIT:C36090", "UMLS:C1334252"]}
{"category": ["biolink:Disease"], "description": "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.", "id": "MONDO:0002062", "name": "Breast myofibroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast myofibroblastoma"], "xref": ["DOID:1629", "MEDGEN:307311", "NCIT:C40397", "UMLS:C1511320"]}
{"category": ["biolink:Disease"], "description": "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.", "id": "MONDO:0002064", "name": "Breast angiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1637", "MEDGEN:307304", "NCIT:C40381", "UMLS:C1511284"]}
{"category": ["biolink:Disease"], "description": "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.", "id": "MONDO:0002065", "name": "Benign breast adenomyoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign adenomyoepithelioma of breast", "benign adenomyoepithelioma of the breast", "benign breast adenomyoepithelioma", "breast adenomyoepithelioma, benign"], "xref": ["DOID:1641", "MEDGEN:231421", "NCIT:C5144", "UMLS:C1332477"]}
{"category": ["biolink:Disease"], "description": "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.", "id": "MONDO:0002066", "name": "Breast adenomyoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenomyoepithelioma of the breast", "breast adenomyoepithelioma"], "xref": ["DOID:1642", "ICDO:8983/0", "MEDGEN:267278", "NCIT:C6899", "ONCOTREE:BRAME", "UMLS:C1510795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002067", "name": "Female breast upper-inner quadrant cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1647", "ICD10CM:C50.2", "ICD9:174.2", "MEDGEN:509324", "SCTID:188152004", "UMLS:C0153550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002068", "name": "Female breast lower-inner quadrant cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1649", "ICD10CM:C50.3", "ICD9:174.3", "MEDGEN:509325", "SCTID:188153009", "UMLS:C0153551"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the UBERON:0035289.", "id": "MONDO:0002069", "name": "Female breast axillary tail cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["axillary tail of breast cancer", "cancer of axillary tail of breast", "malignant axillary tail of breast neoplasm", "malignant neoplasm of axillary tail of breast"], "xref": ["DOID:1650", "ICD10CM:C50.6", "ICD9:174.6", "MEDGEN:509328", "SCTID:188156001", "UMLS:C0153554"]}
{"category": ["biolink:Disease"], "description": "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.", "id": "MONDO:0002070", "name": "Ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["VSD", "interventricular communication", "interventricular septal defect", "ventricular septal defect", "ventricular septal defect (disease)"], "xref": ["DOID:1657", "HP:0001629", "ICD10CM:Q21.0", "ICD9:745.4", "MEDGEN:42366", "MESH:D006345", "NANDO:2100087", "NANDO:2200270", "NCIT:C84506", "OMIMPS:614429", "Orphanet:1480", "SCTID:30288003", "UMLS:C0018818", "icd11.foundation:668140715"]}
{"category": ["biolink:Disease"], "description": "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.", "id": "MONDO:0002071", "name": "Supratentorial cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant supratentorial neoplasm", "malignant supratentorial tumor", "malignant supratentorial tumour", "supratentorial neoplasms, malignant"], "xref": ["DOID:1659", "GARD:0027597", "MEDGEN:155589", "MESH:D015173", "NCIT:C4964", "UMLS:C0751589"]}
{"category": ["biolink:Disease"], "description": "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.", "id": "MONDO:0002072", "name": "Melanotic neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MNTI", "infantile melanotic neuroectodermal neoplasm", "melanotic Progonoma", "melanotic neuroectodermal tumor (morphologic abnormality)", "melanotic neuroectodermal tumor of infancy", "melanotic neuroectodermal tumor of infancy (morphologic abnormality)", "melanotic neuroectodermal tumour (morphologic abnormality)", "melanotic neuroectodermal tumour of infancy (morphologic abnormality)", "pigmented neuroectodermal tumor", "pigmented neuroectodermal tumor of infancy", "pigmented neuroectodermal tumour", "retinal anlage neoplasm"], "xref": ["DOID:166", "ICDO:9363/0", "MEDGEN:60073", "MESH:D017600", "NCIT:C3717", "SCTID:404042005", "UMLS:C0206094"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.", "id": "MONDO:0002073", "name": "Malignant pineal area germ cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["malignant germ cell neoplasm of pineal gland", "malignant germ cell neoplasm of pineal parenchyma", "malignant germ cell neoplasm of the pineal gland", "malignant germ cell neoplasm of the pineal parenchyma", "malignant germ cell tumor of pineal gland", "malignant germ cell tumor of pineal parenchyma", "malignant germ cell tumor of the pineal gland", "malignant germ cell tumor of the pineal parenchyma", "malignant germ cell tumour of pineal gland", "malignant germ cell tumour of pineal parenchyma", "malignant germ cell tumour of the pineal gland", "malignant germ cell tumour of the pineal parenchyma", "malignant pineal area germ cell tumor", "malignant pineal area germ cell tumour", "malignant pineal gland germ cell neoplasm", "malignant pineal gland germ cell tumor", "malignant pineal gland germ cell tumour", "malignant pineal parenchymal germ cell neoplasm", "malignant pineal parenchymal germ cell tumor", "malignant pineal parenchymal germ cell tumour", "malignant pineal region germ cell neoplasm", "malignant pineal region germ cell tumor", "malignant pineal region germ cell tumour", "pineal germ cell neoplasm, malignant", "pineal germ cell tumour", "pineal region germ cell tumour"], "xref": ["DOID:1660", "GARD:0012017", "ICD9:239.7", "MEDGEN:233159", "NCIT:C6767", "SCTID:277508009", "UMLS:C1334612"]}
{"category": ["biolink:Disease"], "description": "Arthropathy resulting from Behcet's syndrome.", "id": "MONDO:0002074", "name": "Behcet syndrome arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Behcet's syndrome arthropathy", "arthropathy in Behcet's syndrome"], "xref": ["DOID:1670", "ICD9:711.2", "ICD9:711.20", "ICD9:711.23", "ICD9:711.26", "ICD9:711.28", "MEDGEN:102354", "NCIT:C35225", "SCTID:62918002", "UMLS:C0157770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002075", "name": "Spontaneous tension pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1672", "ICD10CM:J93.0", "ICD9:512.0", "MEDGEN:510132", "SCTID:196102003", "UMLS:C0155907", "icd11.foundation:304972724"]}
{"category": ["biolink:Disease"], "description": "Abnormal presence of air in the pleural cavity.", "id": "MONDO:0002076", "name": "Pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pneumothorax", "pneumothorax (disease)"], "xref": ["DOID:1673", "HP:0002107", "ICD10WHO:J93", "ICD9:512.8", "MEDGEN:19365", "MESH:D011030", "NCIT:C38006", "SCTID:36118008", "UMLS:C0032326", "icd11.foundation:1946559257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002077", "name": "Low implantation of placenta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1677", "ICD9:641.0", "MEDGEN:510322", "SCTID:7792000", "UMLS:C0156617"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.", "id": "MONDO:0002078", "name": "Heart septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Cardiac septal defects", "congenital septal defect", "holes in the heart"], "xref": ["DOID:1681", "ICD9:745.8", "ICD9:745.9", "MEDGEN:6752", "MESH:D006343", "NCIT:C84482", "SCTID:253273004", "UMLS:C0018816"]}
{"category": ["biolink:Disease"], "description": "A disease involving the musculoskeletal system.", "id": "MONDO:0002081", "name": "Musculoskeletal system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of musculoskeletal system", "disease or disorder of musculoskeletal system", "disorder of musculoskeletal system", "musculoskeletal disease", "musculoskeletal system disease", "musculoskeletal system disease or disorder", "musculoskeletal system disorder"], "xref": ["DOID:17", "EFO:0009676", "ICD9:729.99", "MEDGEN:6471", "MESH:D009140", "NCIT:C107377", "SCTID:928000", "UMLS:C0026857"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.", "id": "MONDO:0002082", "name": "Endocrine gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endocrine gland neoplasm (disease)", "endocrine gland tumor", "endocrine gland tumour", "endocrine neoplasm", "endocrine system neoplasm", "endocrine system tumor", "endocrine system tumour", "endocrine tumor", "endocrine tumour", "neoplasm of endocrine gland", "tumor of endocrine gland", "tumour of endocrine gland"], "xref": ["EFO:0003769", "ICD9:239.7", "MEDGEN:4044", "NCIT:C3010", "SCTID:387922007", "UMLS:C0014132"]}
{"category": ["biolink:Disease"], "description": "Transformation of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) into a more aggressive type of lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying CLL/SLL, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.", "id": "MONDO:0002083", "name": "Richter transformation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richter syndrome", "Richter's syndrome", "Richter's transformation", "chronic lymphocytic leukemia with Richter transformation", "chronic lymphocytic leukemia/small lymphocytic lymphoma with Richter transformation"], "xref": ["DOID:1703", "GARD:0007578", "MEDGEN:91159", "NCIT:C35424", "SCTID:277550009", "UMLS:C0349631", "icd11.foundation:1736108343"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002085", "name": "Benign shuddering attacks", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1713", "ICD10CM:G25.83", "ICD9:333.93", "MEDGEN:580931", "SCTID:446995005", "UMLS:C0375200"]}
{"category": ["biolink:Disease"], "description": "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.", "id": "MONDO:0002086", "name": "Clear cell acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Degos acanthoma", "clear cell acanthoma (morphologic abnormality)", "pale (clear cell) acanthoma"], "xref": ["DOID:172", "MEDGEN:83098", "NCIT:C97041", "SCTID:254670002", "UMLS:C0333992", "icd11.foundation:1582724858"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the peritoneum", "id": "MONDO:0002087", "name": "Peritoneum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of peritoneum", "cancer of the peritoneum", "malignant neoplasm of peritoneum", "malignant peritoneal neoplasm", "malignant peritoneum neoplasm", "peritoneal cancer", "peritoneal cavity cancer", "peritoneum cancer"], "xref": ["DOID:1725", "ICD9:158.8", "ICD9:158.9", "ICD9:159.8", "MEDGEN:102270", "NCIT:C3538", "SCTID:363492001", "UMLS:C0153467", "icd11.foundation:315445782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002088", "name": "Partial retinal vein occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["partial retinal vein occlusion"], "xref": ["DOID:1726", "MEDGEN:78753", "NCIT:C35341", "SCTID:65593009", "UMLS:C0271080"]}
{"category": ["biolink:Disease"], "description": "An occlusion of the retinal vasculature.", "id": "MONDO:0002089", "name": "Retinal vascular occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["retinal vascular occlusion", "retinal vascular occlusion, unspecified"], "xref": ["DOID:1729", "ICD10CM:H34", "ICD9:362.3", "ICD9:362.30", "MEDGEN:19762", "NCIT:C34980", "SCTID:73757007", "UMLS:C0035326"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a eccrine sweat gland.", "id": "MONDO:0002090", "name": "Eccrine sweat gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eccrine neoplasm", "eccrine neoplasm of skin", "eccrine neoplasm of the skin", "eccrine skin neoplasm", "eccrine skin tumor", "eccrine skin tumour", "eccrine sweat gland neoplasm (disease)", "eccrine sweat gland tumor", "eccrine sweat gland tumour", "eccrine tumor", "eccrine tumor of skin", "eccrine tumor of the skin", "eccrine tumour", "eccrine tumour of skin", "eccrine tumour of the skin", "neoplasm of eccrine sweat gland", "tumor of eccrine sweat gland", "tumour of eccrine sweat gland"], "xref": ["DOID:173", "MEDGEN:234213", "NCIT:C6796", "UMLS:C1333371"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0002092", "name": "Small intestine leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of small bowel", "leiomyoma of small intestine", "leiomyoma of the small bowel", "leiomyoma of the small intestine", "leiomyoma, small bowel", "leiomyoma, small intestine", "small bowel leiomyoma", "small intestinal leiomyoma", "small intestine leiomyoma"], "xref": ["DOID:1738", "MEDGEN:68660", "NCIT:C7725", "SCTID:424279009", "UMLS:C0238197", "icd11.foundation:400263642"]}
{"category": ["biolink:Disease"], "description": "A benign skin neoplasm composed of epithelial cells.", "id": "MONDO:0002093", "name": "Acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acanthoma", "acanthoma (disease)"], "xref": ["DOID:174", "HP:0025432", "MEDGEN:208851", "MESH:D049309", "NCIT:C7419", "UMLS:C0846967"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the blood vessels.", "id": "MONDO:0002095", "name": "Vascular cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["cancer of vasculature", "malignant blood vessel neoplasm", "malignant blood vessel tumor", "malignant blood vessel tumour", "malignant neoplasm of vasculature", "malignant vascular tumor", "malignant vascular tumour", "malignant vasculature neoplasm", "pulmonary artery cancer", "vasculature cancer"], "xref": ["DOID:175", "MEDGEN:264315", "MESH:D009383", "NCIT:C8538", "Orphanet:673466", "UMLS:C1458139"]}
{"category": ["biolink:Disease"], "description": "A malignant melanoma within the conjunctiva of the eye.", "id": "MONDO:0002096", "name": "Malignant conjunctival melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["conjunctiva melanoma", "conjunctiva melanoma (disease)", "conjunctival malignant melanoma", "conjunctival melanoma", "malignant conjunctiva melanoma", "malignant conjunctival melanoma", "malignant melanoma of conjunctiva", "malignant melanoma of the conjunctiva", "melanoma (disease) of conjunctiva", "melanoma of conjunctiva", "melanoma of the conjunctiva"], "xref": ["DOID:1751", "EFO:1000204", "GARD:0010744", "MEDGEN:138060", "NCIT:C4550", "ONCOTREE:CM", "Orphanet:617910", "SCTID:255004001", "UMLS:C0346360"]}
{"category": ["biolink:Disease"], "description": "A disease involving the facial nerve.", "id": "MONDO:0002098", "name": "Facial nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of facial nerve", "disease or disorder of facial nerve", "disorder of facial nerve", "facial nerve disease", "facial nerve disease or disorder", "facial nerve disorder"], "xref": ["DOID:1756", "EFO:1002051", "ICD10CM:G51", "ICD9:351", "ICD9:351.9", "MEDGEN:41946", "MESH:D005155", "NCIT:C27594", "SCTID:422426003", "UMLS:C0015464"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Histoplasma capsulatum.", "id": "MONDO:0002099", "name": "Histoplasma capsulatum infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Histoplasma capsulatum caused disease or disorder", "Histoplasma capsulatum disease or disorder", "infection by Histoplasma capsulatum"], "xref": ["DOID:1759", "GARD:0023062", "ICD9:115.0", "ICD9:115.00", "SCTID:76255006"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the cardiovascular system.", "id": "MONDO:0002100", "name": "Cardiovascular cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of cardiovascular system", "cardiovascular system cancer", "cardiovascular tumours", "malignant cardiovascular neoplasm", "malignant cardiovascular system neoplasm", "malignant neoplasm of cardiovascular system"], "xref": ["DOID:176", "MEDGEN:858066", "NCIT:C114940", "UMLS:C3898472"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a facial nerve.", "id": "MONDO:0002101", "name": "Facial nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VIIth cranial nerve neoplasms", "VIIth cranial nerve tumors", "VIIth cranial nerve tumours", "facial nerve neoplasm", "facial nerve neoplasm (disease)", "facial nerve neoplasms", "facial nerve tumor", "facial nerve tumors", "facial nerve tumour", "facial nerve tumours", "neoplasm of Facial nerve", "neoplasm of facial nerve", "neoplasm of seventh cranial nerve", "neoplasm of the Facial nerve", "neoplasm of the seventh cranial nerve", "seventh cranial nerve neoplasm", "seventh cranial nerve neoplasms", "seventh cranial nerve tumor", "seventh cranial nerve tumors", "seventh cranial nerve tumour", "seventh cranial nerve tumours", "tumor of Facial nerve", "tumor of facial nerve", "tumor of seventh cranial nerve", "tumor of the Facial nerve", "tumor of the seventh cranial nerve", "tumour of Facial nerve", "tumour of facial nerve", "tumour of seventh cranial nerve", "tumour of the Facial nerve", "tumour of the seventh cranial nerve"], "xref": ["DOID:1760", "ICD9:239.7", "MEDGEN:224733", "NCIT:C5827", "SCTID:126973004", "UMLS:C1263899"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the lip.", "id": "MONDO:0002102", "name": "Cheilitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of lip", "lip inflammation"], "xref": ["DOID:1762", "HP:0100825", "MEDGEN:3349", "MESH:D002613", "NCIT:C79545", "SCTID:7847004", "UMLS:C0007971", "icd11.foundation:482914030"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.", "id": "MONDO:0002103", "name": "Factitious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1766", "ICD9:300.16", "ICD9:300.19", "MEDGEN:4632", "MESH:D009110", "NCIT:C92198", "SCTID:50705009", "UMLS:C0015480"]}
{"category": ["biolink:Disease"], "description": "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.", "id": "MONDO:0002104", "name": "Conversion disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conversion hysterical neurosis"], "xref": ["DOID:1768", "ICD9:300.11", "MEDGEN:3230", "MESH:D003291", "UMLS:C0009946"]}
{"category": ["biolink:Disease"], "description": "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.", "id": "MONDO:0002105", "name": "Toxic megacolon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1770", "ICD10CM:K59.31", "ICD9:564.7", "MEDGEN:9940", "MESH:D008532", "SCTID:28536002", "UMLS:C0025162", "icd11.foundation:1497870078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002106", "name": "Labyrinthine unilateral reactive loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["loss of labyrinthine reactivity, unilateral"], "xref": ["DOID:1776", "ICD9:386.55", "MEDGEN:510005", "UMLS:C0155519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002107", "name": "Unilateral hyperactive labyrinth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperactive labyrinth, unilateral"], "xref": ["DOID:1777", "ICD9:386.51", "MEDGEN:510001", "UMLS:C0155515"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the thyroid gland", "id": "MONDO:0002108", "name": "Thyroid cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of thyroid gland", "malignant neoplasm of the thyroid", "malignant neoplasm of the thyroid gland", "malignant neoplasm of thyroid", "malignant neoplasm of thyroid gland", "malignant thyroid gland neoplasm", "malignant thyroid gland tumor", "malignant thyroid gland tumour", "malignant thyroid neoplasm", "malignant thyroid tumor", "malignant thyroid tumour", "malignant tumor of the thyroid", "malignant tumor of the thyroid gland", "malignant tumor of thyroid", "malignant tumor of thyroid gland", "malignant tumour of the thyroid", "malignant tumour of the thyroid gland", "malignant tumour of thyroid", "malignant tumour of thyroid gland", "thyroid gland cancer"], "xref": ["DOID:1781", "ICD10CM:C73", "ICD9:193", "MEDGEN:2869", "NANDO:2200074", "NCIT:C7510", "SCTID:363478007", "UMLS:C0007115", "icd11.foundation:447433352"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.", "id": "MONDO:0002109", "name": "Pituitary cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of pituitary gland", "malignant neoplasm of pituitary", "malignant neoplasm of pituitary gland", "malignant neoplasm of the pituitary", "malignant neoplasm of the pituitary gland", "malignant pituitary gland neoplasm", "malignant pituitary gland tumor", "malignant pituitary gland tumour", "malignant pituitary neoplasm", "malignant pituitary tumor", "malignant pituitary tumour", "malignant tumor of pituitary", "malignant tumor of pituitary gland", "malignant tumor of the pituitary", "malignant tumor of the pituitary gland", "malignant tumour of pituitary", "malignant tumour of pituitary gland", "malignant tumour of the pituitary", "malignant tumour of the pituitary gland", "pituitary cancer", "pituitary gland cancer", "pituitary neoplasms, malignant", "pituitary tumor, malignant"], "xref": ["DOID:1785", "EFO:0005578", "GARD:0023064", "ICD10CM:C75.1", "MEDGEN:96922", "NCIT:C4769", "SCTID:363482009", "UMLS:C0496842", "icd11.foundation:1130461249"]}
{"category": ["biolink:Disease"], "description": "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.", "id": "MONDO:0002110", "name": "Adrenal rest tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adrenal rest neoplasm", "adrenal rest tumor"], "xref": ["DOID:1786", "ICDO:8671/0", "MEDGEN:7902", "MESH:D000314", "NCIT:C2860", "UMLS:C0001630"]}
{"category": ["biolink:Disease"], "description": "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.", "id": "MONDO:0002112", "name": "Benign peritoneal mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peritoneal adenomatoid tumor", "peritoneal adenomatoid tumour", "peritoneum benign mesothelioma"], "xref": ["DOID:1789", "MEDGEN:87540", "NCIT:C7354", "UMLS:C0346113"]}
{"category": ["biolink:Disease"], "description": "A peritoneum cancer that is located in the inside of the abdomen.", "id": "MONDO:0002113", "name": "Peritoneal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of peritoneum", "peritoneum carcinoma"], "xref": ["DOID:1791", "MEDGEN:756216", "SCTID:447781009", "UMLS:C3163804"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.", "id": "MONDO:0002114", "name": "Pancreas lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of pancreas", "lymphoma of the pancreas", "pancreas lymphoma", "pancreatic lymphoma"], "xref": ["DOID:1792", "GARD:0023065", "MEDGEN:233304", "NCIT:C5714", "UMLS:C1335307"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.", "id": "MONDO:0002116", "name": "Malignant exocrine pancreas neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of exocrine pancreas", "exocrine pancreas cancer", "malignant exocrine pancreas neoplasm", "malignant exocrine pancreas tumor", "malignant exocrine pancreas tumour", "malignant neoplasm of exocrine pancreas", "malignant neoplasm of the exocrine pancreas", "malignant tumor of exocrine pancreas", "malignant tumor of the exocrine pancreas", "malignant tumour of the exocrine pancreas"], "xref": ["DOID:1795", "GARD:0027598", "MEDGEN:91108", "NCIT:C7430", "SCTID:255088001", "UMLS:C0346648"]}
{"category": ["biolink:Disease"], "description": "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.", "id": "MONDO:0002117", "name": "Pancreas sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreas sarcoma", "pancreatic sarcoma", "sarcoma of pancreas", "sarcoma of the pancreas"], "xref": ["DOID:1796", "GARD:0023066", "MEDGEN:202112", "NCIT:C5715", "UMLS:C1096346"]}
{"category": ["biolink:Disease"], "description": "A disease involving the renal system.", "id": "MONDO:0002118", "name": "Urinary system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of renal system", "disease or disorder of renal system", "disease, urinary tract", "disease, urologic", "disease, urological", "diseases, urinary tract", "diseases, urologic", "diseases, urological", "disorder of renal system", "disorder of the urinary system", "disorder of urinary system", "renal system disease", "renal system disease or disorder", "urinary disease", "urinary system disorder", "urinary tract disease", "urinary tract diseases", "urinary tract disorder", "urologic disease", "urologic disorder", "urological disease", "urological diseases", "urological disorder", "urological disorders"], "xref": ["DOID:18", "EFO:0009690", "ICD9:V47.4", "MEDGEN:21791", "MESH:D014570", "NCIT:C3430", "SCTID:128606002", "UMLS:C0042075"]}
{"category": ["biolink:Disease"], "description": "A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.", "id": "MONDO:0002119", "name": "Ossifying fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cementifying fibroma", "cemento-ossifying fibroma", "fibroma, ossifying, benign", "ossifying fibroma", "ossifying fibroma (disease)"], "xref": ["DOID:180", "GARD:0012792", "HP:0030426", "ICDO:9262/0", "ICDO:9274/0", "MEDGEN:104906", "MESH:D018214", "NCIT:C173820", "NCIT:C8422", "NORD:111729", "UMLS:C0206640"]}
{"category": ["biolink:Disease"], "description": "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.", "id": "MONDO:0002120", "name": "Neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEC", "neuroendocrine cancer", "neuroendocrine carcinoma"], "xref": ["DOID:1800", "GARD:0023067", "ICDO:8246/3", "MEDGEN:104919", "MESH:D018278", "NCIT:C3773", "SCTID:253000007", "UMLS:C0206695"]}
{"category": ["biolink:Disease"], "description": "Neuritis of a single nerve.", "id": "MONDO:0002121", "name": "Mononeuritis simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1802", "ICD9:355.9", "MEDGEN:65914", "SCTID:32595002", "UMLS:C0235880"]}
{"category": ["biolink:Disease"], "description": "A neuropathy arising from inflammation of one or more nerves.", "id": "MONDO:0002122", "name": "Neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nerve inflammation"], "xref": ["DOID:1803", "ICD9:729.2", "MEDGEN:14344", "MESH:D009443", "NCIT:C116381", "SCTID:128192007", "SCTID:84299009", "UMLS:C0027813"]}
{"category": ["biolink:Disease"], "description": "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.", "id": "MONDO:0002123", "name": "Calcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calcification", "calcium deposit(s)", "deposit(s), calcium", "macrocalcification", "pathologic calcification", "pathologically calcified structure"], "xref": ["DOID:182", "HP:0003761", "ICD9:275.49", "MEDGEN:709", "MESH:D002114", "NCIT:C3672", "SCTID:6595006", "UMLS:C0006663", "icd11.foundation:1374802956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002124", "name": "Secondary lacrimal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1822", "ICD9:375.14", "MEDGEN:572969", "SCTID:75068001", "UMLS:C0339121"]}
{"category": ["biolink:Disease"], "description": "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.", "id": "MONDO:0002127", "name": "Urethral stricture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethral stricture", "urethral stricture (disease)"], "xref": ["DOID:1829", "HP:0012227", "ICD10CM:N35", "ICD10WHO:N35", "ICD9:598.8", "ICD9:598.9", "MEDGEN:1641821", "MESH:D014525", "NCIT:C79821", "SCTID:76618002", "UMLS:C4551691", "icd11.foundation:611219038"]}
{"category": ["biolink:Disease"], "description": "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.", "id": "MONDO:0002128", "name": "Mononeuritis multiplex", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mononeuritis multiplex"], "xref": ["DOID:1835", "GARD:0007056", "ICD10CM:G58.7", "ICD9:354.5", "MEDGEN:101790", "NCIT:C70938", "SCTID:30292005", "UMLS:C0151295", "icd11.foundation:1838368265"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.", "id": "MONDO:0002129", "name": "Bone cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone cancer", "cancer of bone", "cancer of skeletal element", "cancer of the bone", "malignant bone neoplasm", "malignant bone tumor", "malignant neoplasm of bone", "malignant neoplasm of skeletal element", "malignant neoplasm of the bone", "malignant osseous neoplasm", "malignant osseous tumor", "malignant osseous tumour", "malignant skeletal element neoplasm", "malignant tumor of bone", "malignant tumor of the bone", "malignant tumour of bone", "malignant tumour of the bone", "osseous cancer", "skeletal element cancer"], "xref": ["CSP:2019-1041", "DOID:184", "EFO:1000350", "GARD:0023070", "ICD9:170.9", "MEDGEN:79002", "MESH:D001859", "NCIT:C4016", "SCTID:428281000", "UMLS:C0279530"]}
{"category": ["biolink:Disease"], "description": "A disease affecting a single peripheral nerve of the upper limb.", "id": "MONDO:0002130", "name": "Upper limb mononeuronitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["forelimb mononeuritis simplex", "mononeuritis of upper limb, unspecified", "mononeuritis simplex of forelimb"], "xref": ["DOID:1844", "GARD:0023071", "ICD9:354.9"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the jaw skeleton", "id": "MONDO:0002131", "name": "Jaw cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of jaw skeleton", "jaw skeleton cancer", "malignant jaw skeleton neoplasm", "malignant neoplasm of jaw skeleton"], "xref": ["DOID:1862", "GARD:0023072", "MEDGEN:155838", "MESH:D007573", "UMLS:C0751255", "icd11.foundation:1535116870"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the skull.", "id": "MONDO:0002132", "name": "Skull cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of skull", "malignant neoplasm of skull", "malignant skull neoplasm", "skull cancer"], "xref": ["DOID:1863", "GARD:0023073", "MEDGEN:1662558", "NCIT:C155790", "UMLS:C2062986"]}
{"category": ["biolink:Disease"], "description": "Chronic form of rheumatic pericarditis.", "id": "MONDO:0002133", "name": "Chronic rheumatic pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rheumatic pericarditis, chronic"], "xref": ["DOID:1869", "ICD10CM:I09.2", "ICD9:393", "MEDGEN:510021", "SCTID:78069008", "UMLS:C0155561", "icd11.foundation:1473004877"]}
{"category": ["biolink:Disease"], "description": "Physiological disturbances in normal sexual performance in either the male or the female.", "id": "MONDO:0002134", "name": "Physiological sexual disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["physiological sexual disorder", "physiological sexual dysfunction"], "xref": ["DOID:1876", "MEDGEN:66756", "MESH:D012735", "UMLS:C0237873"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).", "id": "MONDO:0002135", "name": "Optic nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve II disease", "cranial nerve II disease or disorder", "disease of cranial nerve II", "disease or disorder of cranial nerve II", "disorder of cranial nerve II", "optic nerve disorder", "second cranial nerve disorder"], "xref": ["DOID:1891", "ICD9:377.49", "ICD9:377.9", "MEDGEN:854546", "MESH:D009901", "NCIT:C79698", "SCTID:77157004", "UMLS:C3887709"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002136", "name": "Eczematous dermatitis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1893", "ICD10CM:H01.13", "ICD9:373.31", "MEDGEN:509832", "SCTID:36259009", "UMLS:C0155177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002137", "name": "Noninfectious dermatoses of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1894", "ICD10CM:H01.1", "ICD9:373.3", "MEDGEN:509831", "SCTID:111524003", "UMLS:C0155176", "icd11.foundation:849793428"]}
{"category": ["biolink:Disease"], "description": "A allergic contact dermatitis that involves the eyelid.", "id": "MONDO:0002138", "name": "Allergic contact dermatitis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["contact and allergic dermatitis of eyelid", "eyelid allergic contact dermatitis"], "xref": ["DOID:1895", "ICD9:373.32", "ICD9:692.9", "MEDGEN:509833", "SCTID:402249007", "UMLS:C0155178"]}
{"category": ["biolink:Disease"], "description": "Pathological processes in the sigmoid colon region of the large intestine (intestine, large).", "id": "MONDO:0002139", "name": "Sigmoid disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1897", "MEDGEN:20752", "MESH:D012810", "UMLS:C0037072"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.", "id": "MONDO:0002140", "name": "Vagina sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sarcoma of the vagina", "sarcoma of vagina", "vagina sarcoma", "vaginal sarcoma"], "xref": ["DOID:1901", "GARD:0023074", "MEDGEN:65971", "NCIT:C7737", "UMLS:C0238519"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.", "id": "MONDO:0002141", "name": "Cutaneous undifferentiated pleomorphic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous malignant fibrous histiocytoma", "cutaneous unclassified pleomorphic sarcoma", "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")", "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")", "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)", "cutaneous undifferentiated pleomorphic sarcoma", "malignant cutaneous fibrous histiocytoma", "malignant fibrous histiocytoma of skin", "malignant fibrous histiocytoma of the skin", "malignant skin fibrous histiocytoma", "undifferentiated pleomorphic sarcoma of zone of skin", "zone of skin undifferentiated pleomorphic sarcoma"], "xref": ["DOID:1906", "GARD:0023075", "ICD9:171.9", "MEDGEN:224813", "NCIT:C5576", "SCTID:404014008", "UMLS:C1275254", "icd11.foundation:361875781"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.", "id": "MONDO:0002142", "name": "Undifferentiated pleomorphic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MFH", "Storiform-pleomorphic MFH", "Storiform-pleomorphic fibrous histiocytoma", "Storiform-pleomorphic malignant fibrous histiocytoma", "UPS", "Unclassified Pleomorphic sarcoma (formerly \"MFH\")", "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")", "adult malignant fibrous histiocytoma", "adult unclassified pleomorphic sarcoma", "adult undifferentiated pleomorphic sarcoma", "fibrous histiocytoma, malignant", "fibrous histiocytoma, malignant (morphologic abnormality)", "fibroxanthosarcoma", "fibroxanthosarcoma (morphologic abnormality)", "histiocytoma, fibrous, malignant", "malignant fibrous cytoma", "malignant fibrous histiocytoma", "malignant fibrous histiocytoma of soft tissue and bone", "malignant fibrous histiocytoma of the soft tissue and bone", "malignant fibroxanthoma", "unclassified pleomorphic sarcoma", "undifferentiated pleomorphic sarcoma", "undifferentiated pleomorphic soft tissue sarcoma"], "xref": ["DOID:1907", "EFO:1001972", "GARD:0006963", "HGNC:16982", "ICD9:171.9", "ICDO:8830/3", "MEDGEN:87248", "MESH:D051677", "MedDRA:10025552", "NCIT:C114541", "NCIT:C4247", "ONCOTREE:MFH", "Orphanet:2023", "SCTID:443439001", "UMLS:C0334463"]}
{"category": ["biolink:Disease"], "description": "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.", "id": "MONDO:0002143", "name": "Vaginal yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vaginal endodermal sinus neoplasm", "vaginal endodermal sinus tumor", "vaginal endodermal sinus tumour", "vaginal yolk Sac neoplasm", "vaginal yolk Sac tumor", "vaginal yolk Sac tumour"], "xref": ["DOID:1910", "GARD:0023076", "MEDGEN:234985", "NCIT:C6379", "ONCOTREE:VYST", "UMLS:C1336945"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002144", "medic_stub": true, "name": "obsolete hyperuricemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by abnormalities in the development of the sexual characteristics.", "id": "MONDO:0002145", "name": "Disorder of sexual differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["conditions affecting reproductive development", "differences of sex development", "disorder of sex development", "disorder of sex differentiation", "disorder of sexual differentiation", "disorders of sex development", "intersex", "intersex conditions", "sex differentiation disorder", "sexual differentiation disorder"], "xref": ["DOID:1923", "GTR:AN1172969", "MEDGEN:415936", "MESH:D012734", "MedDRA:10070597", "NANDO:2100140", "NCIT:C103186", "Orphanet:90771", "SCTID:39179006", "UMLS:C2930619"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.", "id": "MONDO:0002146", "name": "Hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gonadotropin deficiency", "hypogonadotropism"], "xref": ["DOID:1924", "ICD9:253.4", "MEDGEN:5711", "MESH:D007006", "NCIT:C9227", "SCTID:48130008", "UMLS:C0020619"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the reproductive organ", "id": "MONDO:0002149", "name": "Reproductive system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of reproductive organ", "cancer of reproductive system", "malignant neoplasm of reproductive organ", "malignant neoplasm of reproductive system", "malignant reproductive organ neoplasm", "malignant reproductive system neoplasm", "reproductive organ cancer", "reproductive system cancer"], "xref": ["DOID:193", "MEDGEN:233668", "NCIT:C36076", "UMLS:C1334618"]}
{"category": ["biolink:Disease"], "description": "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.", "id": "MONDO:0002150", "name": "Hypothalamic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of hypothalamus", "disease or disorder of hypothalamus", "disorder of hypothalamus", "hypothalamus disease", "hypothalamus disease or disorder"], "xref": ["DOID:1931", "ICD9:253.9", "MEDGEN:6988", "MESH:D007027", "SCTID:399100005", "UMLS:C0020655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002152", "name": "Intermittent squint", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intermittent heterotropia"], "xref": ["DOID:1942", "ICD10CM:H50.3", "ICD9:378.2", "ICD9:378.20", "MEDGEN:508928", "SCTID:74025007", "UMLS:C0152210"]}
{"category": ["biolink:Disease"], "description": "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.", "id": "MONDO:0002153", "name": "Telogen effluvium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:1943", "GARD:0023077", "ICD10CM:L65.0", "ICD9:704.02", "MEDGEN:537938", "NCIT:C112200", "SCTID:39479004", "UMLS:C0263518", "icd11.foundation:1188535025"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Trichomonas.", "id": "MONDO:0002154", "name": "Trichomoniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas infection"], "xref": ["DOID:1947", "ICD10CM:A59", "ICD10WHO:A59", "ICD9:131", "ICD9:131.8", "ICD9:131.9", "MEDGEN:52838", "MESH:D014245", "NCIT:C35720", "SCTID:56335008", "UMLS:C0040921", "icd11.foundation:1220564554"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.", "id": "MONDO:0002155", "name": "Cholecystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute and chronic cholecystitis", "gall bladder inflammation", "inflammation of gall bladder"], "xref": ["DOID:1949", "ICD10CM:K81", "ICD10WHO:K81", "ICD9:575.10", "ICD9:575.11", "MEDGEN:920", "MESH:D002764", "NCIT:C34465", "SCTID:20824003", "UMLS:C0008325", "icd11.foundation:786251500"]}
{"category": ["biolink:Disease"], "description": "A disease involving the fallopian tube.", "id": "MONDO:0002156", "name": "Fallopian tube disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of fallopian tube", "disease or disorder of fallopian tube", "disorder of fallopian tube", "fallopian tube disease", "fallopian tube disease or disorder", "fallopian tube disorder"], "xref": ["DOID:1962", "EFO:0009548", "MEDGEN:8774", "MESH:D005184", "NCIT:C26771", "SCTID:128134005", "UMLS:C0015556"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.", "id": "MONDO:0002158", "name": "Fallopian tube cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancer of fallopian tube", "cancer of fallopian tubes", "fallopian tube cancer", "fallopian tube malignant neoplasm", "fallopian tube malignant tumor", "fallopian tube malignant tumour", "malignant fallopian tube neoplasm", "malignant fallopian tube tumor", "malignant fallopian tube tumour", "malignant neoplasm of fallopian tube", "malignant neoplasm of the fallopian tube", "malignant neoplasm of uterine tube", "malignant tubal tumor", "malignant tubal tumour", "malignant tumor of fallopian tube", "malignant tumor of fallopian tubes", "malignant tumor of the fallopian tube", "malignant tumour of fallopian tubes", "malignant tumour of the fallopian tube", "neoplasm, fallopian tube, malignant", "tubal cancer", "tumor, fallopian tube, malignant"], "xref": ["DOID:1964", "GARD:0020204", "ICD10CM:C57.0", "ICD9:183.2", "MEDGEN:102276", "MedDRA:10025915", "NCIT:C7480", "Orphanet:180242", "SCTID:363444001", "UMLS:C0153579", "icd11.foundation:459381514"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0002159", "name": "Fallopian tube leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube leiomyosarcoma", "leiomyosarcoma of fallopian tube"], "xref": ["DOID:1965", "GARD:0023078", "MEDGEN:274488", "NCIT:C40128", "UMLS:C1517116"]}
{"category": ["biolink:Disease"], "description": "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.", "id": "MONDO:0002162", "name": "Fallopian tube adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosarcoma of fallopian tube", "fallopian tube Mullerian adenosarcoma", "fallopian tube Müllerian adenosarcoma", "fallopian tube adenosarcoma", "fallopian tube mullerian adenosarcoma"], "xref": ["DOID:1973", "GARD:0023079", "MEDGEN:275872", "NCIT:C40125", "UMLS:C1517121"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.", "id": "MONDO:0002163", "name": "Thymus lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymolipoma", "Thymolipomatous hamartoma", "lipoma of thymus", "thymus lipoma"], "xref": ["DOID:1975", "GARD:0023080", "MEDGEN:234427", "NCIT:C6452", "UMLS:C1336744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002164", "name": "Focal chorioretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:1979", "GARD:0023081", "ICD10CM:H30.0", "ICD9:363.0", "ICD9:363.00", "MEDGEN:509691", "SCTID:15847003", "UMLS:C0154870"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "id": "MONDO:0002165", "name": "Rectal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of rectum", "neoplasm of the rectum", "rectal neoplasm", "rectal tumor", "rectal tumour", "rectum neoplasm (disease)", "rectum tumor", "rectum tumour", "tumor of rectum", "tumor of the rectum", "tumour of rectum", "tumour of the rectum"], "xref": ["DOID:1984", "MEDGEN:11148", "MESH:D012004", "NCIT:C3350", "SCTID:126847008", "UMLS:C0034885"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.", "id": "MONDO:0002166", "name": "Rectum lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of rectum", "lymphoma of the rectum", "primary rectal lymphoma", "rectal lymphoma", "rectum lymphoma"], "xref": ["DOID:1988", "GARD:0023082", "MEDGEN:233393", "NCIT:C5553", "UMLS:C1335685"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant melanocytic neoplasm that arises from the rectum.", "id": "MONDO:0002167", "name": "Rectum malignant melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant melanoma of rectum", "malignant melanoma of the rectum", "melanoma (disease) of rectum", "melanoma of rectum", "melanoma of the rectum", "rectal malignant melanoma", "rectal melanoma", "rectum melanoma", "rectum melanoma (disease)"], "xref": ["DOID:1992", "MEDGEN:87605", "NCIT:C4640", "SCTID:276822007", "UMLS:C0349539"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.", "id": "MONDO:0002168", "name": "Rectum sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rectal sarcoma", "rectum sarcoma", "sarcoma of rectum", "sarcoma of the rectum"], "xref": ["DOID:1995", "MEDGEN:277577", "NCIT:C5548", "UMLS:C1335688"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.", "id": "MONDO:0002169", "name": "Rectum adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma - rectum", "adenocarcinoma of rectum", "adenocarcinoma of the rectum", "rectal adenocarcinoma", "rectum adenocarcinoma"], "xref": ["DOID:1996", "EFO:0005631", "MEDGEN:56214", "NCIT:C9383", "ONCOTREE:READ", "SCTID:254582000", "UMLS:C0149978", "icd11.foundation:1316028436"]}
{"category": ["biolink:Disease"], "description": "Chronic form of otosalpingitis.", "id": "MONDO:0002170", "name": "Chronic eustachian salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic otosalpingitis", "otosalpingitis, chronic"], "xref": ["DOID:1999", "ICD10CM:H68.02", "ICD9:381.52", "MEDGEN:509962", "SCTID:194269002", "UMLS:C0155430"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.", "id": "MONDO:0002171", "name": "Giant cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["giant cell neoplasm", "giant cell tumor", "giant cell tumor (morphologic abnormality)", "giant cell tumor (qualifier value)", "giant cell tumor NOS (morphologic abnormality)", "giant cell tumors (morphologic abnormality)", "giant cell tumour (morphologic abnormality)", "giant cell tumour (qualifier value)", "giant cell tumour NOS (morphologic abnormality)", "giant cell tumours (morphologic abnormality)", "tumor of the giant cell", "tumour of the giant cell"], "xref": ["DOID:200", "MEDGEN:6598", "MESH:D005870", "NCIT:C3055", "SCTID:443790001", "UMLS:C0017525"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.", "id": "MONDO:0002172", "name": "Otosalpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Eustachian salpingitis", "inflammation of pharyngotympanic tube", "pharyngotympanic tube inflammation"], "xref": ["DOID:2000", "ICD10CM:H68.0", "ICD9:381.5", "ICD9:381.50", "MEDGEN:509960", "SCTID:270491006", "UMLS:C0155428"]}
{"category": ["biolink:Disease"], "description": "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.", "id": "MONDO:0002173", "name": "Neuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2001", "EFO:0009619", "ICD9:215.9", "ICDO:9570/0", "MEDGEN:14352", "MESH:D009463", "NCIT:C3275", "SCTID:443892003", "UMLS:C0027858"]}
{"category": ["biolink:Disease"], "description": "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)", "id": "MONDO:0002174", "name": "Preretinal fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macular puckering of retina"], "xref": ["DOID:2006", "ICD9:362.56", "ICD9:362.89", "MEDGEN:87388", "MESH:D019773", "SCTID:367649002", "UMLS:C0339543"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002175", "name": "Degeneration of macula and posterior pole", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["degeneration of macula and posterior pole of retina"], "xref": ["DOID:2007", "ICD10CM:H35.3", "ICD9:362.5", "MEDGEN:573150", "SCTID:267611002", "UMLS:C0339436"]}
{"category": ["biolink:Disease"], "description": "Abnormally high levels of insulin in the blood.", "id": "MONDO:0002177", "name": "Hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperinsulinism", "hyperinsulinism (disease)"], "xref": ["DOID:2018", "HP:0000842", "ICD9:251.1", "MEDGEN:43779", "MESH:D006946", "SCTID:83469008", "UMLS:C0020459", "icd11.foundation:224022886"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the placenta.", "id": "MONDO:0002178", "name": "Placenta cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of placenta", "deciduoma, malignant", "malignant neoplasm of placenta", "malignant neoplasm of the placenta", "malignant placenta neoplasm", "malignant placenta tumor", "malignant placenta tumour", "malignant placental neoplasm", "malignant placental tumor", "malignant placental tumour", "malignant tumor of placenta", "malignant tumor of the placenta", "malignant tumour of placenta", "malignant tumour of the placenta", "placenta cancer", "placental cancer", "primary malignant neoplasm of placenta"], "xref": ["DOID:2021", "ICD10CM:C58", "ICD9:239.5", "MEDGEN:56310", "NCIT:C3555", "SCTID:126920004", "UMLS:C0153572", "icd11.foundation:821359459"]}
{"category": ["biolink:Disease"], "description": "Non-neoplastic overgrowth of bone.", "id": "MONDO:0002181", "name": "Exostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bone osteophyte", "exostosis"], "xref": ["DOID:203", "ICD9:726.91", "MEDGEN:257035", "NCIT:C3029", "SCTID:235231000119100", "SCTID:416189003", "UMLS:C1442903"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.", "id": "MONDO:0002182", "name": "Communication disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["communicative disorders"], "xref": ["DOID:2033", "ICD9:307.9", "MEDGEN:3549", "MESH:D003147", "NCIT:C2958", "SCTID:278919001", "UMLS:C0009460"]}
{"category": ["biolink:Disease"], "description": "A disorder involving the attachment of a tendon or ligament to a bone", "id": "MONDO:0002183", "name": "Enthesopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of enthesis", "disease or disorder of enthesis", "disorder of enthesis", "enthesis disease", "enthesis disease or disorder"], "xref": ["DOID:204", "EFO:0009666", "ICD9:726.9", "ICD9:726.90", "MEDGEN:66909", "MESH:D000070676", "SCTID:23680005", "UMLS:C0242490"]}
{"category": ["biolink:Disease"], "description": "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.", "id": "MONDO:0002184", "name": "Drug-induced hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2044", "MEDGEN:226802", "SCTID:235889003", "UMLS:C1262760"]}
{"category": ["biolink:Disease"], "description": "Excessive thickening of bone.", "id": "MONDO:0002185", "name": "Hyperostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bone hypertrophy", "hypertrophy of bone", "hypertrophy of bone (morphologic abnormality)"], "xref": ["DOID:205", "ICD10CM:M89.3", "ICD9:733.99", "MEDGEN:9366", "MESH:D015576", "NCIT:C34712", "SCTID:203514008", "UMLS:C0020492"]}
{"category": ["biolink:Disease"], "description": "Acute form of maxillary sinusitis.", "id": "MONDO:0002186", "name": "Acute maxillary sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute antritis", "maxillary sinusitis, acute"], "xref": ["DOID:2050", "ICD10CM:J01.0", "ICD9:461.0", "MEDGEN:510086", "SCTID:68272006", "UMLS:C0155804", "icd11.foundation:1617309258"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.", "id": "MONDO:0002187", "name": "Vulvar disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of vulva", "vulvar disease", "vulvar disorder"], "xref": ["DOID:2059", "MEDGEN:53055", "MESH:D014845", "NCIT:C27631", "SCTID:5089007", "UMLS:C0042994"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.", "id": "MONDO:0002188", "name": "Vulvar nodular hidradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva nodular hidradenoma", "nodular hidradenoma of mammalian vulva", "vulvar nodular hidradenoma"], "xref": ["DOID:2060", "MEDGEN:276994", "NCIT:C40312", "UMLS:C1520091"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.", "id": "MONDO:0002189", "name": "Nodular hidradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nodular hidradenoma", "solid and cystic hidradenoma"], "xref": ["DOID:2061", "ICDO:8402/0", "MEDGEN:1374260", "NCIT:C7568", "SCTID:253020008", "UMLS:C4505470"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.", "id": "MONDO:0002190", "name": "Vulvar syringoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva syringoma", "syringoma of mammalian vulva", "vulvar syringoma"], "xref": ["DOID:2064", "MEDGEN:311490", "NCIT:C40311", "UMLS:C1520099"]}
{"category": ["biolink:Disease"], "description": "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.", "id": "MONDO:0002191", "name": "Syringoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eccrine syringoma", "syringoma"], "xref": ["DOID:2065", "ICDO:8407/0", "MEDGEN:60205", "MESH:D018252", "NCIT:C3761", "SCTID:302828001", "UMLS:C0206673", "icd11.foundation:1091480008"]}
{"category": ["biolink:Disease"], "description": "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.", "id": "MONDO:0002192", "name": "Vulvar angiokeratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiokeratoma of mammalian vulva", "mammalian vulva angiokeratoma", "mammalian vulva angiokeratoma of Fordyce"], "xref": ["DOID:2066", "MEDGEN:266144", "NCIT:C8596", "SCTID:402841001", "UMLS:C1274281"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.", "id": "MONDO:0002193", "name": "Bartholin gland benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["major vestibular gland benign neoplasm"], "xref": ["DOID:2068", "MEDGEN:83868", "SCTID:189130001", "UMLS:C0347500"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.", "id": "MONDO:0002194", "name": "Vestibular papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva squamous papilloma", "vestibular papilloma", "vulvar squamous papilloma"], "xref": ["DOID:2071", "MEDGEN:277874", "NCIT:C6376", "UMLS:C1336982"]}
{"category": ["biolink:Disease"], "description": "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.", "id": "MONDO:0002195", "name": "Vulvar squamous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mammalian vulva squamous cell neoplasm", "vulvar squamous neoplasm", "vulvar squamous tumor", "vulvar squamous tumour"], "xref": ["DOID:2072", "MEDGEN:276998", "NCIT:C40283", "UMLS:C1520097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002196", "name": "Perinatal intestinal perforation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2073", "ICD10CM:P78.0", "ICD9:777.6", "MEDGEN:510691", "SCTID:65390006", "UMLS:C0159006"]}
{"category": ["biolink:Disease"], "description": "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.", "id": "MONDO:0002197", "name": "Minor vestibular glands adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of minor vestibular glands", "minor vestibular gland adenoma"], "xref": ["DOID:2075", "MEDGEN:267644", "NCIT:C40301", "UMLS:C1510791"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.", "id": "MONDO:0002198", "name": "Vulvar glandular neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva glandular cell neoplasm", "vulvar glandular neoplasm", "vulvar glandular tumor", "vulvar glandular tumour"], "xref": ["DOID:2076", "MEDGEN:276991", "NCIT:C40292", "UMLS:C1520082"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.", "id": "MONDO:0002199", "name": "Benign mixed tumor of the vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign mixed tumor of the vulva", "chondroid syringoma of the vulva"], "xref": ["DOID:2078", "MEDGEN:267714", "NCIT:C40302", "UMLS:C1511091"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.", "id": "MONDO:0002200", "name": "Eccrine mixed tumor of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign mixed tumor of skin", "benign mixed tumor of skin (chondroid syringoma)", "benign mixed tumor of the skin", "benign mixed tumor of the skin (chondroid syringoma)", "benign mixed tumour of skin", "benign mixed tumour of skin (chondroid syringoma)", "benign mixed tumour of the skin", "benign mixed tumour of the skin (chondroid syringoma)", "chondroid syringoma", "eccrine mixed tumor (morphologic abnormality)", "eccrine mixed tumour (morphologic abnormality)", "eccrine sweat gland mixed neoplasm", "mixed tumor of the skin (chondroid syringoma)", "mixed tumour of the skin (chondroid syringoma)"], "xref": ["DOID:2079", "EFO:1000385", "MEDGEN:91074", "NCIT:C4474", "SCTID:254720009", "UMLS:C0346026"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.", "id": "MONDO:0002201", "name": "Vulvar trichoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva trichoblastoma", "trichoblastoma of mammalian vulva", "vulvar trichoblastoma", "vulvar trichoepithelioma"], "xref": ["DOID:2080", "MEDGEN:274418", "NCIT:C40314", "UMLS:C1520100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002202", "name": "Outlet dysfunction constipation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2088", "ICD10CM:K59.02", "ICD9:564.02", "MEDGEN:1843499", "UMLS:C0949134"]}
{"category": ["biolink:Disease"], "description": "Irregular and infrequent or difficult evacuation of the bowels.", "id": "MONDO:0002203", "name": "Constipation disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["constipation"], "xref": ["DOID:2089", "HP:0002019", "ICD10CM:K59.0", "ICD9:564.0", "ICD9:564.00", "MEDGEN:1101", "MESH:D003248", "NCIT:C37930", "SCTID:14760008", "UMLS:C0009806", "icd11.foundation:502284069"]}
{"category": ["biolink:Disease"], "description": "Arthritis that is not permanent.", "id": "MONDO:0002204", "name": "Transient arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2092", "ICD9:716.4", "MEDGEN:854445", "SCTID:6011000119108", "UMLS:C3887596", "icd11.foundation:846745561"]}
{"category": ["biolink:Disease"], "description": "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.", "id": "MONDO:0002205", "name": "Vulvar melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mammalian vulva melanoma", "mammalian vulva melanoma (disease)", "melanoma (disease) of mammalian vulva", "vulvar melanoma", "vulvar melanoma (disease)"], "xref": ["DOID:2093", "GARD:0027599", "HP:0030418", "MEDGEN:66040", "NCIT:C40329", "SCTID:254896002", "UMLS:C0241989"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the sweat glands.", "id": "MONDO:0002206", "name": "Sweat gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of sweat gland", "malignant neoplasm of sweat gland", "malignant neoplasm of the sweat gland", "malignant sweat gland neoplasm", "malignant tumor of sweat gland", "malignant tumor of the sweat gland", "malignant tumour of sweat gland", "malignant tumour of the sweat gland", "sweat gland cancer", "sweat gland neoplasms, malignant"], "xref": ["DOID:2095", "MEDGEN:231171", "NCIT:C4810", "UMLS:C1321904"]}
{"category": ["biolink:Disease"], "description": "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.", "id": "MONDO:0002207", "name": "Vulval paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget disease of the vulva", "Paget's disease of the vulva", "Paget's disease of vulva", "mammalian vulva Paget disease", "vulva Paget's disease", "vulval Paget's disease", "vulvar Paget's disease"], "xref": ["DOID:2097", "GARD:0023083", "ICD9:233.39", "MEDGEN:266154", "NCIT:C4027", "SCTID:254898001", "UMLS:C1275217"]}
{"category": ["biolink:Disease"], "description": "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.", "id": "MONDO:0002209", "name": "Heel spur", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["calcaneus exostosis"], "xref": ["DOID:210", "ICD10CM:M77.3", "ICD9:726.73", "MEDGEN:57853", "MESH:D036982", "SCTID:55260003", "UMLS:C0158322"]}
{"category": ["biolink:Disease"], "description": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.", "id": "MONDO:0002211", "name": "B cell deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["B-cell deficiency", "deficiency of humoral immunity"], "xref": ["DOID:2115", "GARD:0023084", "ICD9:279.03", "MEDGEN:340780", "NCIT:C4799", "UMLS:C1855067"]}
{"category": ["biolink:Disease"], "description": "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.", "id": "MONDO:0002212", "name": "Pneumonic tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pulmonary tularemia"], "xref": ["DOID:2122", "GARD:0023085", "ICD10CM:A21.2", "ICD9:021.2", "MEDGEN:573437", "SCTID:45556008", "UMLS:C0339946"]}
{"category": ["biolink:Disease"], "description": "A germinoma (disease) that involves the brain.", "id": "MONDO:0002214", "name": "Brain germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain germinoma (disease)", "germinoma of brain", "germinoma of the brain"], "xref": ["DOID:2127", "GARD:0023086", "MEDGEN:231457", "NCIT:C6284", "UMLS:C1332606"]}
{"category": ["biolink:Disease"], "description": "A sarcoma arising from the brain.", "id": "MONDO:0002216", "name": "Brain sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain sarcoma", "primary brain sarcoma", "sarcoma of brain", "sarcoma of the brain"], "xref": ["DOID:2132", "GARD:0023087", "MEDGEN:272381", "NCIT:C5154", "UMLS:C1332607"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that arises from the central nervous system.", "id": "MONDO:0002217", "name": "Central nervous system sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS sarcoma", "central nervous system sarcoma", "sarcoma of CNS", "sarcoma of central nervous system", "sarcoma of the CNS", "sarcoma of the central nervous system"], "xref": ["DOID:2133", "GARD:0023088", "MEDGEN:272444", "NCIT:C5153", "UMLS:C1332892"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the temporal lobe.", "id": "MONDO:0002218", "name": "Temporal lobe cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of temporal lobe", "malignant neoplasm of temporal lobe", "malignant temporal lobe neoplasm", "temporal lobe cancer"], "xref": ["DOID:2135", "GARD:0027600", "ICD10CM:C71.2", "ICD9:191.2", "MEDGEN:509347", "SCTID:363468009", "UMLS:C0153636", "icd11.foundation:221444544"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the paraurethral gland.", "id": "MONDO:0002219", "name": "Paraurethral gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of paraurethral gland", "paraurethral gland neoplasm (disease)", "paraurethral gland tumor", "paraurethral gland tumour", "tumor of paraurethral gland", "tumour of paraurethral gland", "tumour of the paraurethral gland"], "xref": ["DOID:2139", "ICD9:239.5", "MEDGEN:574628", "SCTID:126884005", "UMLS:C0341766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002220", "name": "Tooth hard tissue disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of hard tissues of teeth"], "xref": ["DOID:214", "ICD10CM:K03", "ICD9:521.8", "ICD9:521.89", "MEDGEN:510140", "SCTID:46557008", "UMLS:C0155926"]}
{"category": ["biolink:Disease"], "description": "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003", "id": "MONDO:0002221", "name": "Urethral urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethra urothelial papilloma", "urethral urothelial papilloma"], "xref": ["DOID:2140", "MEDGEN:275549", "NCIT:C5061", "UMLS:C1519826"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0002222", "name": "Urethra leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of the urethra", "leiomyoma of urethra", "urethra leiomyoma", "urethral leiomyoma"], "xref": ["DOID:2142", "MEDGEN:237035", "NCIT:C6171", "UMLS:C1336888"]}
{"category": ["biolink:Disease"], "description": "A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.", "id": "MONDO:0002223", "name": "Ovarian malignant mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant mesothelioma (disease) of ovary", "ovarian malignant mesothelioma", "ovary malignant mesothelioma (disease)"], "xref": ["DOID:2143", "GARD:0023089", "MEDGEN:274089", "NCIT:C40444", "UMLS:C1518721"]}
{"category": ["biolink:Disease"], "description": "A cystic cancerous tumor arising from the ovary.", "id": "MONDO:0002224", "name": "Malignant ovarian cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant ovarian cyst", "malignant ovarian cyst (disease)", "ovarian cyst (disease), malignant"], "xref": ["DOID:2145", "GARD:0023090", "MEDGEN:116000", "NCIT:C3843", "UMLS:C0235770"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.", "id": "MONDO:0002225", "name": "Ovarian sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian sarcoma", "ovary sarcoma", "sarcoma of ovary", "sarcoma of the ovary"], "xref": ["DOID:2146", "GARD:0023091", "MEDGEN:128881", "NCIT:C8267", "SCTID:423627007", "UMLS:C0280746"]}
{"category": ["biolink:Disease"], "description": "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.", "id": "MONDO:0002226", "name": "Tuberculous oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:2148", "GARD:0023092", "ICD9:016.6", "ICD9:016.60", "MEDGEN:546959", "SCTID:84194006", "UMLS:C0275932", "icd11.foundation:1634640694"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.", "id": "MONDO:0002227", "name": "Ovarian lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of ovary", "ovarian lymphoma", "ovary lymphoma", "primary ovarian lymphoma"], "xref": ["DOID:2150", "GARD:0023093", "MEDGEN:276669", "NCIT:C40021", "UMLS:C1518720"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.", "id": "MONDO:0002229", "name": "Ovarian epithelial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelial neoplasm of ovary", "epithelial neoplasm of the ovary", "epithelial tumor of ovary", "epithelial tumor of the ovary", "epithelial tumour of ovary", "epithelial tumour of the ovary", "ovarian epithelial tumor", "ovarian surface epithelial-stromal tumor", "ovarian surface epithelial-stromal tumour", "ovarian surface-epithelial stromal neoplasm", "ovary epithelial neoplasm"], "xref": ["DOID:2152", "ICD9:239.5", "MEDGEN:90969", "NCIT:C4381", "ONCOTREE:OVT", "SCTID:237057005", "UMLS:C0341823"]}
{"category": ["biolink:Disease"], "description": "An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.", "id": "MONDO:0002230", "name": "Ovarian wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian Wilms tumor", "ovarian Wilms' tumor", "ovarian Wilms' tumour", "ovary Wilms tumor", "ovary Wilms tumour"], "xref": ["DOID:2153", "GARD:0023094", "MEDGEN:275296", "NCIT:C40443", "UMLS:C1518746"]}
{"category": ["biolink:Disease"], "description": "A disease involving the nasal cavity.", "id": "MONDO:0002232", "name": "Nasal cavity disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of nasal cavity", "disease or disorder of nasal cavity", "disorder of nasal cavity", "nasal cavity disease", "nasal cavity disease or disorder", "nasal cavity disorder"], "xref": ["DOID:2163", "MEDGEN:137929", "NCIT:C27102", "SCTID:232340005", "UMLS:C0339820"]}
{"category": ["biolink:Disease"], "description": "A dental caries that involves the enamel.", "id": "MONDO:0002233", "name": "Enamel caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dental caries limited to enamel", "dental caries of enamel", "enamel dental caries"], "xref": ["DOID:217", "ICD9:521.01", "MEDGEN:540214", "SCTID:80353004", "UMLS:C0266853"]}
{"category": ["biolink:Disease"], "description": "A non-infectious or infectious inflammatory process affecting the vagina.", "id": "MONDO:0002234", "name": "Vaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of vagina", "vagina inflammation", "vaginal Inflammation", "vaginal inflammation", "vaginitis", "vaginitis (disease)"], "xref": ["DOID:2170", "HP:0030683", "ICD9:616.1", "ICD9:616.10", "MEDGEN:21815", "MESH:D014627", "NCIT:C26911", "SCTID:30800001", "UMLS:C0042267", "icd11.foundation:290861382"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.", "id": "MONDO:0002235", "name": "Eyelid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eyelid neoplasm", "eyelid neoplasm (disease)", "eyelid tumor", "eyelid tumour", "neoplasm of eyelid", "neoplasm of the eyelid", "palpebral tumor", "palpebral tumour", "tumor of eyelid", "tumor of the eyelid", "tumour of eyelid", "tumour of the eyelid"], "xref": ["DOID:2173", "EFO:1000934", "MEDGEN:41939", "MESH:D005142", "NCIT:C3031", "Orphanet:98580", "SCTID:278697001", "UMLS:C0015424"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the structures of the eye.", "id": "MONDO:0002236", "name": "Ocular cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of eye", "cancer of eyeball of camera-type eye", "cancer of the eye", "eye cancer", "eye neoplasm, malignant", "eyeball of camera-type eye cancer", "malignant eye neoplasm", "malignant eye tumor", "malignant eye tumour", "malignant eyeball of camera-type eye neoplasm", "malignant neoplasm of eye", "malignant neoplasm of eyeball of camera-type eye", "malignant neoplasm of the eye", "malignant ocular neoplasm", "malignant ocular tumor", "malignant ocular tumour", "malignant tumor of eye", "malignant tumor of the eye", "malignant tumour of eye", "malignant tumour of the eye"], "xref": ["DOID:2174", "ICD9:190.8", "ICD9:239.89", "MEDGEN:105418", "MESH:D005134", "NCIT:C4767", "SCTID:371486001", "UMLS:C0496836"]}
{"category": ["biolink:Disease"], "description": "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.", "id": "MONDO:0002237", "name": "Carbuncle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carbuncle and furuncle of buttock", "carbuncle and furuncle of face"], "xref": ["DOID:2176", "ICD9:680.8", "ICD9:680.9", "MEDGEN:2866", "MESH:D002270", "SCTID:416893007", "UMLS:C0007078", "icd11.foundation:1456834066"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ascending colon.", "id": "MONDO:0002238", "name": "Ascending colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ascending colon cancer", "cancer of ascending colon", "malignant ascending colon neoplasm", "malignant neoplasm of ascending colon", "malignant tumour of ascending colon"], "xref": ["DOID:218", "ICD10CM:C18.2", "ICD9:153.6", "MEDGEN:509293", "SCTID:363412000", "UMLS:C0153439", "icd11.foundation:74144027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002239", "name": "Post-surgical hypoinsulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["postsurgical hypoinsulinemia"], "xref": ["DOID:2181", "ICD9:251.3", "MEDGEN:509539", "SCTID:190437000", "UMLS:C0154190"]}
{"category": ["biolink:Disease"], "description": "Acute form of perichondritis of auricle.", "id": "MONDO:0002240", "name": "Acute perichondritis of pinna", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute perichondritis of auricle", "perichondritis of auricle, acute"], "xref": ["DOID:221", "ICD9:380.01", "MEDGEN:509946", "SCTID:45855004", "UMLS:C0155390"]}
{"category": ["biolink:Disease"], "description": "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.", "id": "MONDO:0002241", "name": "Factor xiii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FXIIID"], "xref": ["GARD:0023095", "MEDGEN:1385982", "MESH:D005177", "NANDO:2200681", "UMLS:C4316906"]}
{"category": ["biolink:Disease"], "description": "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.", "id": "MONDO:0002242", "name": "Coagulation protein disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["coagulation factor deficiency", "coagulation factor deficiency syndrome"], "xref": ["DOID:2212", "GARD:0023096", "MEDGEN:108723", "MESH:D020147", "NCIT:C27215", "SCTID:86075001", "UMLS:C0600503"]}
{"category": ["biolink:Disease"], "description": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).", "id": "MONDO:0002243", "name": "Hemorrhagic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bleeding diathesis", "bleeding disorder", "bleeding predisposition", "bleeding tendency"], "xref": ["DOID:2213", "ICD9:287.9", "MEDGEN:6799", "MESH:D006474", "NCIT:C115221", "UMLS:C0019087"]}
{"category": ["biolink:Disease"], "description": "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.", "id": "MONDO:0002244", "name": "Factor vii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["F7 deficiency", "deficiency, stable", "factor 7 deficiency", "factor VII deficiency"], "xref": ["GARD:0023098", "ICD9:286.3", "MEDGEN:8769", "MESH:D005168", "NANDO:2200675", "SCTID:37193007", "UMLS:C0015503"]}
{"category": ["biolink:Disease"], "description": "Disorders caused by abnormalities in platelet count or function.", "id": "MONDO:0002245", "name": "Blood platelet disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["platelet abnormality", "platelet disorder"], "xref": ["MEDGEN:57492", "MESH:D001791", "NCIT:C131634", "SCTID:22716005", "UMLS:C0151854"]}
{"category": ["biolink:Disease"], "description": "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.", "id": "MONDO:0002246", "name": "Perichondritis of auricle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["perichondritis and chondritis of pinna", "perichondritis of pinna, unspecified"], "xref": ["DOID:222", "ICD9:380.0", "ICD9:380.00", "MEDGEN:509945", "SCTID:34129005", "UMLS:C0155389"]}
{"category": ["biolink:Disease"], "description": "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.", "id": "MONDO:0002247", "name": "Factor x deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0023100", "MEDGEN:4635", "MESH:D005171", "NANDO:2200678", "NCIT:C131632", "SCTID:76642003", "UMLS:C0015519"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by higher than normal platelet counts in the peripheral blood.", "id": "MONDO:0002249", "name": "Thrombocytosis disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Platelet count increased", "elevated Platelet count"], "xref": ["DOID:2228", "ICD9:289.9", "MEDGEN:163397", "MESH:D013922", "NCIT:C35530", "SCTID:6631009", "UMLS:C0836924"]}
{"category": ["biolink:Disease"], "description": "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.", "id": "MONDO:0002250", "name": "Basilar artery insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basilar artery syndrome"], "xref": ["DOID:223", "ICD9:435.0", "MEDGEN:14039", "NCIT:C34413", "SCTID:64009001", "UMLS:C0004812", "icd11.foundation:440367679"]}
{"category": ["biolink:Disease"], "description": "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.", "id": "MONDO:0002251", "name": "Hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hepatitis", "hepatitis", "inflammation of liver", "liver inflammation"], "xref": ["DOID:2237", "ICD9:570", "ICD9:571.4", "ICD9:571.40", "ICD9:571.41", "MEDGEN:5515", "MESH:D006505", "NCIT:C3095", "SCTID:197268000", "UMLS:C0019158"]}
{"category": ["biolink:Disease"], "description": "Hepatitis that is characterized by the presence of granulomas.", "id": "MONDO:0002252", "name": "Granulomatous hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2239", "MEDGEN:115987", "NCIT:C27015", "SCTID:86514004", "UMLS:C0235369"]}
{"category": ["biolink:Disease"], "description": "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.", "id": "MONDO:0002253", "name": "Spondylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2247", "ICD10CM:M47", "ICD10WHO:M47", "ICD9:721.3", "ICD9:721.9", "MEDGEN:21295", "MESH:D055009", "SCTID:48210000", "UMLS:C0038019"]}
{"category": ["biolink:Disease"], "description": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.", "id": "MONDO:0002254", "name": "Syndromic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "synonym": ["cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder"], "xref": ["DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002255", "name": "Hypertrophic elongation of cervix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2251", "ICD9:622.6", "MEDGEN:507825", "SCTID:198353000", "UMLS:C0020561"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.", "id": "MONDO:0002256", "name": "Cervix disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cervical disorder", "disease of uterine cervix", "disease or disorder of uterine cervix", "disorder of uterine cervix", "uterine cervix disease", "uterine cervix disease or disorder"], "xref": ["DOID:2253", "MEDGEN:2970", "MESH:D002577", "NCIT:C40241", "SCTID:63339007", "UMLS:C0007867"]}
{"category": ["biolink:Disease"], "description": "Fixation and immobility of a joint.", "id": "MONDO:0002257", "name": "Ankylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ankylosis", "ankylosis (disease)"], "xref": ["DOID:227", "HP:0031013", "ICD9:718.5", "ICD9:718.50", "MEDGEN:8101", "MESH:D000844", "SCTID:111227009", "UMLS:C0003090"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.", "id": "MONDO:0002258", "name": "Pharyngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sore throat", "inflammation of throat", "throat inflammation"], "xref": ["DOID:2275", "ICD9:462", "ICD9:472", "ICD9:478.20", "MEDGEN:45846", "MESH:D010612", "NCIT:C26851", "SCTID:405737000", "UMLS:C0031350"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the testis or the ovary.", "id": "MONDO:0002259", "name": "Gonadal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of gonad", "disease or disorder of gonad", "disorder of gonad", "disorder of gonads", "gonad disease", "gonad disease or disorder", "gonadal disorder", "gonadal disorders"], "xref": ["DOID:2277", "MEDGEN:9074", "MESH:D006058", "NCIT:C26786", "UMLS:C0018050"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.", "id": "MONDO:0002260", "name": "Hidradenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["apocrine sweat gland", "apocrine sweat gland inflammation", "inflammation of apocrine sweat gland"], "xref": ["DOID:2282", "ICD9:705.83", "MEDGEN:43115", "MESH:D016575", "NCIT:C32132", "SCTID:69741000", "UMLS:C0085160"]}
{"category": ["biolink:Disease"], "description": "Any disorder of the cornea.", "id": "MONDO:0002261", "name": "Keratopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2283", "MEDGEN:68615", "NCIT:C27012", "UMLS:C0235270"]}
{"category": ["biolink:Disease"], "description": "A lymphangioma that involves the capillary.", "id": "MONDO:0002262", "name": "Capillary lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["capillary lymphangioma"], "xref": ["DOID:2286", "GARD:0023102", "MEDGEN:569678", "SCTID:445492005", "UMLS:C0334543"]}
{"category": ["biolink:Disease"], "description": "A disease involving the female reproductive system.", "id": "MONDO:0002263", "name": "Female reproductive system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of female reproductive system", "disease or disorder of female reproductive system", "disorder of female genital system", "disorder of female reproductive system", "female reproductive disease", "female reproductive system disease", "female reproductive system disease or disorder", "female reproductive system disorder"], "xref": ["DOID:229", "EFO:0009549", "ICD9:629.9", "MEDGEN:65928", "MESH:D005831", "NCIT:C27020", "SCTID:310789003", "UMLS:C0236100"]}
{"category": ["biolink:Disease"], "description": "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)", "id": "MONDO:0002265", "name": "Stereotypic movement disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stereotyped repetitive movements NOS (finding)"], "xref": ["DOID:2303", "ICD9:307.3", "MEDGEN:21320", "MESH:D019956", "SCTID:5507002", "UMLS:C0038273"]}
{"category": ["biolink:Disease"], "description": "An extrinsic allergic alveolitis caused by infection with Aspergillus.", "id": "MONDO:0002266", "name": "Malt worker's lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aspergillus caused extrinsic allergic alveolitis", "Aspergillus extrinsic allergic alveolitis", "Malt workers' lung", "malt workers lung"], "xref": ["DOID:2314", "GARD:0023103", "ICD9:495.4", "MEDGEN:510125", "SCTID:25897000", "UMLS:C0155888"]}
{"category": ["biolink:Disease"], "description": "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.", "id": "MONDO:0002267", "name": "Obstructive lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2320", "MEDGEN:1387", "MESH:D008173", "UMLS:C0001883"]}
{"category": ["biolink:Disease"], "description": "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.", "id": "MONDO:0002268", "name": "Dyspepsia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dyspepsia, indigestion", "indigestion"], "xref": ["DOID:2321", "EFO:0008533", "ICD10CM:K30", "MEDGEN:41681", "MESH:D004415", "NCIT:C26756", "UMLS:C0013395", "icd11.foundation:869622187"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.", "id": "MONDO:0002269", "name": "Gastroenteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of intestine", "intestine inflammation"], "xref": ["DOID:2326", "EFO:1001463", "ICD9:558.9", "MEDGEN:8967", "MESH:D005759", "NCIT:C34632", "SCTID:25374005", "UMLS:C0017160"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the stomach resulting from viral infection.", "id": "MONDO:0002270", "name": "Viral gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Viruses caused gastritis (disease)", "Viruses gastritis (disease)", "viral gastritis"], "xref": ["DOID:2327", "ICD9:008.8", "MEDGEN:107873", "NCIT:C27184", "SCTID:285344007", "UMLS:C0563238"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the colon", "id": "MONDO:0002271", "name": "Colon adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma - colon", "adenocarcinoma of colon", "adenocarcinoma of the colon", "colon adenocarcinoma", "colonic adenocarcinoma"], "xref": ["DOID:234", "EFO:1001949", "MEDGEN:137834", "NCIT:C4349", "ONCOTREE:COAD", "UMLS:C0338106", "icd11.foundation:773139368"]}
{"category": ["biolink:Disease"], "description": "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.", "id": "MONDO:0002272", "name": "Polyclonal hypergammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["polyclonal hypergammaglobulinemia"], "xref": ["DOID:2344", "GARD:0023104", "ICD10CM:D89.0", "ICD9:273.0", "MEDGEN:56337", "NCIT:C35885", "SCTID:190808009", "UMLS:C0154254"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder that involves plasma protein metabolism malfunction.", "id": "MONDO:0002273", "name": "Plasma protein metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:2345", "GARD:0023105", "ICD9:273.8", "MEDGEN:840208", "UMLS:C3875058"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.", "id": "MONDO:0002274", "name": "Monoclonal paraproteinemia disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paraproteinaemia"], "xref": ["DOID:2346", "GARD:0023106", "HP:0031047", "ICD9:273.1", "MEDGEN:10088", "NCIT:C35878", "SCTID:267440005", "UMLS:C0026471"]}
{"category": ["biolink:Disease"], "description": "Atherosclerosis that is not localized.", "id": "MONDO:0002275", "name": "Generalized atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["generalised and unspecified atherosclerosis", "generalized and unspecified atherosclerosis", "generalized atherosclerosis"], "xref": ["DOID:2347", "ICD10CM:I70.91", "ICD9:440.9", "MEDGEN:4866", "NCIT:C35767", "SCTID:39823006", "UMLS:C0017327"]}
{"category": ["biolink:Disease"], "description": "A vascular disorder characterized by thickening and hardening of the walls of the arteries.", "id": "MONDO:0002277", "name": "Arteriosclerosis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arterial sclerosis", "arteriosclerosis", "arteriosclerotic cardiovascular disease", "vascular sclerosis"], "xref": ["CSP:0571-2299", "DOID:2348", "DOID:2349", "HP:0002634", "ICD9:440", "MEDGEN:2076", "MESH:D001161", "NCIT:C34398", "NCIT:C34403", "SCTID:72092001", "UMLS:C0003850"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from the wall of the colon.", "id": "MONDO:0002278", "name": "Benign colon neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign colon neoplasm", "benign colon tumor", "benign colon tumour", "benign colonic neoplasm", "benign colonic tumor", "benign colonic tumour", "benign neoplasm of colon", "benign neoplasm of the colon", "benign tumor of colon", "benign tumor of the colon", "benign tumour of colon", "benign tumour of the colon", "colon benign neoplasm"], "xref": ["DOID:235", "ICD9:211.3", "MEDGEN:525", "NCIT:C2894", "SCTID:92065004", "UMLS:C0004991", "icd11.foundation:1870086213"]}
{"category": ["biolink:Disease"], "description": "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.", "id": "MONDO:0002279", "name": "Iron metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of iron metabolism"], "xref": ["DOID:2351", "ICD10CM:E83.1", "ICD9:275.0", "MEDGEN:8438", "MESH:D019189", "SCTID:30913008", "UMLS:C0012715"]}
{"category": ["biolink:Disease"], "description": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.", "id": "MONDO:0002280", "name": "Anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaemia (disease)", "anemia", "anemia (disease)"], "xref": ["DOID:2355", "HP:0001903", "ICD9:285.8", "ICD9:285.9", "MEDGEN:1526", "MESH:D000740", "NCIT:C2869", "SCTID:271737000", "UMLS:C0002871"]}
{"category": ["biolink:Disease"], "description": "Anemia that is characterized by increased red blood cell volume.", "id": "MONDO:0002281", "name": "Macrocytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["D22S676", "D22S750", "anaemia macrocytic", "anemia macrocytic", "macrocytic Anemia", "macrocytic anaemia (disease)", "macrocytic anaemia of unspecified cause", "macrocytic anemia", "macrocytic anemia (disease)", "macrocytic anemia of unspecified cause"], "xref": ["DOID:2361", "HP:0001972", "MEDGEN:1920", "MESH:D000748", "NCIT:C34381", "SCTID:83414005", "UMLS:C0002886"]}
{"category": ["biolink:Disease"], "description": "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)", "id": "MONDO:0002282", "name": "West nile fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["West Nile virus caused disease or disorder", "West Nile virus disease or disorder", "West Nile virus infectious disease"], "xref": ["DOID:2366", "ICD10CM:A92.3", "ICD9:066.4", "ICD9:066.40", "MEDGEN:22705", "MESH:D014901", "SCTID:417093003", "UMLS:C0043124"]}
{"category": ["biolink:Disease"], "description": "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)", "id": "MONDO:0002283", "name": "Neuroaxonal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2367", "MEDGEN:90924", "MESH:D019150", "NCIT:C161542", "SCTID:230365004", "UMLS:C0338473"]}
{"category": ["biolink:Disease"], "description": "A disease involving the pupil.", "id": "MONDO:0002285", "name": "Pupil disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of pupil", "disease or disorder of pupil", "disorder of pupil", "pupil disease", "pupil disease or disorder"], "xref": ["DOID:238", "MEDGEN:11038", "SCTID:68633000", "UMLS:C0034124"]}
{"category": ["biolink:Disease"], "description": "A disease involving the renal artery.", "id": "MONDO:0002286", "name": "Renal artery disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vascular disorder of kidney"], "xref": ["DOID:2388", "ICD9:593.81", "MEDGEN:768693", "NCIT:C101254", "SCTID:16934004", "UMLS:C3640053"]}
{"category": ["biolink:Disease"], "description": "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.", "id": "MONDO:0002287", "name": "Glandular cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2392", "ICD9:595.89", "MEDGEN:82830", "NCIT:C39860", "SCTID:72815004", "UMLS:C0268837"]}
{"category": ["biolink:Disease"], "description": "A disease involving the iris.", "id": "MONDO:0002289", "name": "Iris disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of iris", "disease or disorder of iris", "disorder of iris", "iris disease", "iris disease or disorder", "iris disorder"], "xref": ["DOID:240", "MEDGEN:9556", "MESH:D007499", "NCIT:C34737", "SCTID:85478004", "UMLS:C0022078"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the clitoris.", "id": "MONDO:0002290", "name": "Clitoris cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of clitoris", "clitoral Ca", "clitoris cancer", "malignant clitoral neoplasm", "malignant clitoral tumor", "malignant clitoral tumour", "malignant clitoris neoplasm", "malignant clitoris tumor", "malignant clitoris tumour", "malignant neoplasm of clitoris", "malignant neoplasm of the clitoris", "malignant tumor of clitoris", "malignant tumor of the clitoris", "malignant tumour of clitoris", "malignant tumour of the clitoris"], "xref": ["DOID:2401", "GARD:0027601", "ICD10CM:C51.2", "ICD9:184.3", "MEDGEN:56312", "NCIT:C3557", "SCTID:371979001", "UMLS:C0153589"]}
{"category": ["biolink:Disease"], "description": "A granular cell tumor that involves the zone of skin.", "id": "MONDO:0002291", "name": "Cutaneous granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous granular cell neoplasm", "cutaneous granular cell tumor", "granular cell neoplasm of skin", "granular cell neoplasm of the skin", "granular cell skin tumor", "granular cell skin tumour", "granular cell tumor of skin", "granular cell tumor of the skin", "granular cell tumor of zone of skin", "granular cell tumour of the skin", "granular cell tumour of zone of skin", "skin granular cell neoplasm", "zone of skin granular cell tumor", "zone of skin granular cell tumour"], "xref": ["DOID:2410", "GARD:0023107", "ICD9:215.9", "MEDGEN:138035", "NCIT:C5617", "SCTID:254763007", "UMLS:C0346060"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroma arising from the skin.", "id": "MONDO:0002293", "name": "Cutaneous ganglioneuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous ganglioneuroma", "ganglioneuroma of skin", "ganglioneuroma of the skin", "skin ganglioneuroma"], "xref": ["DOID:2425", "GARD:0023108", "MEDGEN:91077", "NCIT:C4481", "SCTID:254766004", "UMLS:C0346063"]}
{"category": ["biolink:Disease"], "description": "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.", "id": "MONDO:0002295", "name": "Skin glomus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glomus neoplasm of skin", "glomus neoplasm of the skin", "glomus skin neoplasm", "glomus skin tumor", "glomus skin tumour", "glomus tumor of skin", "glomus tumor of the skin", "glomus tumour of the skin", "skin glomus neoplasm", "zone of skin glomus tumor", "zone of skin glomus tumour"], "xref": ["DOID:2430", "GARD:0023109", "MEDGEN:87537", "NCIT:C4491", "SCTID:254795008", "UMLS:C0346083"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.", "id": "MONDO:0002297", "name": "Epidermal appendage tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Epidermal appendage neoplasm", "Epidermal appendage tumour", "adnexal neoplasm of skin", "adnexal neoplasm of the skin", "adnexal tumor of skin", "adnexal tumor of the skin", "adnexal tumour of skin", "adnexal tumour of the skin", "cutaneous adnexal neoplasm", "cutaneous appendage neoplasm", "cutaneous appendage neoplasm (disease)", "cutaneous appendage tumor", "cutaneous appendage tumour", "neoplasm of Epidermal appendage", "neoplasm of cutaneous appendage", "neoplasm of skin appendage", "skin appendage neoplasm", "skin appendage tumor", "tumor of Epidermal appendage", "tumor of cutaneous appendage", "tumor of skin appendage", "tumor of the skin appendage", "tumour of Epidermal appendage", "tumour of cutaneous appendage", "tumour of skin appendage", "tumour of the skin appendage"], "xref": ["DOID:2433", "ICD9:239.2", "MEDGEN:87527", "NCIT:C4463", "SCTID:126489007", "UMLS:C0345988"]}
{"category": ["biolink:Disease"], "description": "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.", "id": "MONDO:0002298", "name": "Cutaneous glomangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous glomangioma", "glomangioma of skin", "glomangioma of the skin", "skin glomangioma", "zone of skin glomangioma"], "xref": ["DOID:2435", "GARD:0023110", "MEDGEN:266155", "NCIT:C6750", "SCTID:403970001", "UMLS:C1275226", "icd11.foundation:1486488869"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.", "id": "MONDO:0002299", "name": "Glomangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glomangioma"], "xref": ["DOID:2436", "GARD:0023111", "ICDO:8712/0", "MEDGEN:87239", "NCIT:C4222", "UMLS:C0334421"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm that arises from the dermis.", "id": "MONDO:0002300", "name": "Dermis tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dermal neoplasm", "dermal tumor", "dermal tumour", "dermis neoplasm", "dermis neoplasm (disease)", "dermis tumor", "neoplasm of dermis", "neoplasm of the dermis", "tumor of dermis", "tumor of the dermis", "tumour of the dermis"], "xref": ["DOID:2438", "GARD:0023112", "MEDGEN:91075", "NCIT:C4475", "UMLS:C0346041"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.", "id": "MONDO:0002301", "name": "Frontal sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epidermoid carcinoma of frontal sinus", "epidermoid carcinoma of the frontal sinus", "frontal sinus epidermoid carcinoma", "frontal sinus squamous cell carcinoma", "squamous cell carcinoma of frontal sinus", "squamous cell carcinoma of the frontal sinus"], "xref": ["DOID:2441", "GARD:0023113", "MEDGEN:272639", "NCIT:C6067", "SCTID:707356001", "UMLS:C1333646"]}
{"category": ["biolink:Disease"], "description": "Blockage of the central retinal vein.", "id": "MONDO:0002303", "name": "Central retinal vein occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["central retinal Venous occlusion", "central retinal vein retinal vein occlusion", "retinal vein occlusion of central retinal vein"], "xref": ["DOID:2450", "GARD:0021734", "ICD10CM:H34.81", "ICD9:362.35", "MEDGEN:509679", "NCIT:C118859", "Orphanet:411527", "SCTID:68478007", "UMLS:C0154841", "icd11.foundation:1146548497"]}
{"category": ["biolink:Disease"], "description": "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.", "id": "MONDO:0002304", "name": "Protein s deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Protein S deficiency", "Protein S deficiency disease"], "xref": ["DOID:2451", "HGNC:9456", "ICD9:289.81", "MEDGEN:69229", "MESH:D018455", "NANDO:1201081", "NANDO:2100198", "NANDO:2200690", "NCIT:C99026", "SCTID:1563006", "UMLS:C0242666"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.", "id": "MONDO:0002305", "name": "Thrombophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["excessive blood clotting", "hypercoagulability", "hypercoagulability state", "hypercoagulable"], "xref": ["DOID:2452", "EFO:0009315", "GARD:0023114", "ICD9:286.9", "MEDGEN:98306", "MESH:D019851", "NCIT:C84479", "Orphanet:64738", "SCTID:234467004", "UMLS:C0398623", "icd11.foundation:1733531851"]}
{"category": ["biolink:Disease"], "description": "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.", "id": "MONDO:0002306", "name": "Angular blepharoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2455", "ICD10CM:H10.52", "ICD9:372.21", "MEDGEN:509810", "SCTID:69397000", "UMLS:C0155149", "icd11.foundation:602571061"]}
{"category": ["biolink:Disease"], "description": "Inflammation of both the eyelids and the conjunctiva.", "id": "MONDO:0002307", "name": "Blepharoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2456", "ICD10CM:H10.5", "ICD9:372.2", "ICD9:372.20", "MEDGEN:2669", "NCIT:C34430", "SCTID:68659002", "UMLS:C0005743", "icd11.foundation:956823887"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.", "id": "MONDO:0002308", "name": "Giant papillary conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2457", "ICD9:372.39", "MEDGEN:3210", "NCIT:C34507", "SCTID:231857004", "UMLS:C0009769", "icd11.foundation:8559059"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.", "id": "MONDO:0002309", "name": "Papillary conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2458", "ICD9:372.39", "MEDGEN:167698", "NCIT:C35616", "SCTID:416878008", "UMLS:C0854165", "icd11.foundation:392841027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002310", "name": "Anterior dislocation of lens", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2460", "ICD10CM:H27.12", "ICD9:379.33", "MEDGEN:509941", "SCTID:37283009", "UMLS:C0155372", "icd11.foundation:2072438249"]}
{"category": ["biolink:Disease"], "description": "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.", "id": "MONDO:0002311", "name": "Retinal vascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["retinal vascular disorder"], "xref": ["DOID:2462", "ICD9:362.13", "MEDGEN:57824", "NCIT:C35170", "SCTID:57534004", "UMLS:C0154833"]}
{"category": ["biolink:Disease"], "description": "A mycosis that arises from infection in an immunologically compromised host.", "id": "MONDO:0002312", "name": "Opportunistic mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2473", "ICD9:117.9", "ICD9:118", "MEDGEN:508004", "SCTID:78999002", "UMLS:C0029119"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the cornea that is seasonal in nature.", "id": "MONDO:0002313", "name": "Vernal conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2474", "ICD10CM:H10.44", "ICD9:372.13", "MEDGEN:3211", "NCIT:C34508", "SCTID:318316003", "UMLS:C0009773", "icd11.foundation:1653249836"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis that is persistent and long-standing.", "id": "MONDO:0002314", "name": "Chronic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic conjunctivitis", "chronic conjunctivitis (disease)", "chronic conjunctivitis, unspecified", "conjunctivitis (disease), chronic"], "xref": ["DOID:2475", "ICD10CM:H10.4", "ICD9:372.1", "ICD9:372.10", "MEDGEN:102326", "NCIT:C35197", "SCTID:73762008", "UMLS:C0155145", "icd11.foundation:1548498139"]}
{"category": ["biolink:Disease"], "description": "Inflammation or degeneration of the peripheral motor nerves.", "id": "MONDO:0002316", "name": "Motor peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["peripheral motor neuropathy"], "xref": ["DOID:2477", "ICD9:356.9", "MEDGEN:82885", "NCIT:C3500", "SCTID:95663000", "UMLS:C0271683"]}
{"category": ["biolink:Disease"], "description": "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)", "id": "MONDO:0002317", "name": "Central nervous system origin vertigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vertigo of central origin"], "xref": ["DOID:2479", "ICD9:386.2", "MEDGEN:56365", "SCTID:38403006", "UMLS:C0155503"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0002318", "name": "Trachea leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of the trachea", "leiomyoma of trachea", "trachea leiomyoma", "tracheal leiomyoma"], "xref": ["DOID:248", "MEDGEN:237015", "NCIT:C6049", "SCTID:126703006", "UMLS:C1336772"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder that affects the phosphate homeostasis.", "id": "MONDO:0002319", "name": "Phosphorus metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of phosphorus metabolism", "phosphorus metabolic disorder"], "xref": ["DOID:2485", "ICD10CM:E83.3", "ICD9:275.3", "MEDGEN:19276", "MESH:D010760", "NCIT:C97095", "SCTID:87049008", "UMLS:C0031707"]}
{"category": ["biolink:Disease"], "description": "An abnormality of the nervous system that is present at birth or detected in the neonatal period.", "id": "MONDO:0002320", "name": "Congenital nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital abnormality of the nervous system", "congenital nervous system disorder"], "xref": ["DOID:2490", "ICD9:742", "MEDGEN:105425", "NCIT:C97172", "UMLS:C0497552"]}
{"category": ["biolink:Disease"], "description": "Inflammation or degeneration of the sensory nerves.", "id": "MONDO:0002321", "name": "Sensory peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["peripheral neuropathy of sensory nerve", "peripheral sensory neuropathy", "sensory nerve peripheral neuropathy"], "xref": ["DOID:2491", "ICD9:356.9", "MEDGEN:101791", "NCIT:C3501", "SCTID:95662005", "UMLS:C0151313"]}
{"category": ["biolink:Disease"], "description": "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.", "id": "MONDO:0002322", "name": "Angiodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2494", "ICD9:537.83", "MEDGEN:88403", "MESH:D016888", "SCTID:90858003", "UMLS:C0085411"]}
{"category": ["biolink:Disease"], "description": "A capillary hemangioma of the skin, presenting as a red papular lesion.", "id": "MONDO:0002323", "name": "Cherry hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Senile angioma", "Senile hemangioma", "cherry angioma", "cherry hemangioma"], "xref": ["DOID:2495", "MEDGEN:87470", "NCIT:C4390", "SCTID:5050001", "UMLS:C0343082", "icd11.foundation:160204218"]}
{"category": ["biolink:Disease"], "description": "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)", "id": "MONDO:0002325", "name": "Tooth erosion, non-bacterial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2498", "ICD9:521.3", "ICD9:521.30", "ICD9:521.34", "ICD9:521.35", "MEDGEN:21584", "MESH:D014077", "SCTID:82212003", "UMLS:C0040436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002326", "name": "Alcohol-induced mental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:251", "ICD9:291.8", "ICD9:291.89", "MEDGEN:1705315", "UMLS:C5200920"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma arising from the brain and meninges.", "id": "MONDO:0002327", "name": "Intracranial cavernous angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intracranial cavernoma", "intracranial cavernous angioma", "intracranial cavernous hemangioma"], "xref": ["DOID:2516", "GARD:0023117", "MEDGEN:232659", "NANDO:2200852", "NCIT:C5432", "SCTID:445513004", "UMLS:C1334237"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the brain and meninges.", "id": "MONDO:0002328", "name": "Intracranial hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioma of intracranial structure", "angioma of the intracranial structure", "hemangioma of brain", "hemangioma of intracranial structure", "hemangioma of intracranial structures", "hemangioma of the intracranial structure", "intracranial angioma", "intracranial hemangioma"], "xref": ["DOID:2517", "ICD10CM:D18.02", "ICD9:228.02", "MEDGEN:57582", "NCIT:C3633", "SCTID:93468003", "UMLS:C0154050"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.", "id": "MONDO:0002329", "name": "Testicular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of testis", "disease or disorder of testis", "disorder of testis", "testicular disease", "testicular disorder", "testis disease", "testis disease or disorder"], "xref": ["DOID:2519", "EFO:0009601", "ICD9:608.89", "MEDGEN:11743", "MESH:D013733", "NCIT:C26890", "SCTID:64910008", "UMLS:C0039584"]}
{"category": ["biolink:Disease"], "description": "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.", "id": "MONDO:0002330", "name": "Alcoholic psychosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:252", "EFO:1001260", "ICD9:291.8", "ICD9:291.89", "ICD9:291.9", "MEDGEN:11009", "MESH:D011604", "SCTID:42344001", "UMLS:C0033936"]}
{"category": ["biolink:Disease"], "description": "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.", "id": "MONDO:0002331", "name": "Nephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Nephroses"], "xref": ["DOID:2527", "MEDGEN:10223", "MESH:D009401", "UMLS:C0027720"]}
{"category": ["biolink:Disease"], "description": "A disease involving the spleen.", "id": "MONDO:0002332", "name": "Splenic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of spleen", "disease or disorder of spleen", "disorder of spleen", "spleen disease", "spleen disease or disorder", "spleen disorder", "splenic disorder"], "xref": ["DOID:2529", "EFO:0009002", "ICD10CM:D73", "ICD9:289.50", "MEDGEN:21291", "MESH:D013158", "NCIT:C35823", "SCTID:51244008", "UMLS:C0037997"]}
{"category": ["biolink:Disease"], "description": "An abscess that is located in the spleen.", "id": "MONDO:0002333", "name": "Splenic abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["splenic abscess", "splenic abscess (disease)"], "xref": ["DOID:2530", "GARD:0023119", "HP:0025059", "ICD10CM:D73.3", "ICD9:289.59", "MEDGEN:124428", "NCIT:C35347", "SCTID:82053000", "UMLS:C0272412"]}
{"category": ["biolink:Disease"], "description": "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003", "id": "MONDO:0002334", "name": "Hematopoietic and lymphoid system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["blood neoplasm (disease)", "blood tumor", "blood tumour", "haematological tumours", "haematopoietic and lymphoid system tumour", "haematopoietic system neoplasm", "haematopoietic system tumour", "haematopoietic tumours", "hematopoietic and lymphoid system neoplasm", "hematopoietic and lymphoid system tumor", "hematopoietic system neoplasm", "hematopoietic system tumor", "neoplasm of blood", "neoplasm of haematopoietic system", "neoplasm of hematopoietic system", "tumor of blood", "tumor of hematopoietic system", "tumour of blood", "tumour of haematopoietic system"], "xref": ["DOID:2531", "GARD:0023120", "MEDGEN:268180", "MESH:D019337", "NCIT:C35813", "SCTID:129154003", "UMLS:C1512393"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from organs within the abdominal cavity.", "id": "MONDO:0002337", "name": "Intra-abdominal hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abdominal cavity hemangioma", "hemangioma of abdominal cavity", "hemangioma of intra-abdominal structure", "hemangioma of intra-abdominal structures", "hemangioma, intra-abdominal", "intra-abdominal hemangioma"], "xref": ["DOID:254", "ICD10CM:D18.03", "ICD9:228.04", "MEDGEN:57583", "NCIT:C3635", "SCTID:189197001", "UMLS:C0154052"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.", "id": "MONDO:0002338", "name": "Extratemporal epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extratemporal epilepsy"], "xref": ["DOID:2544", "ICD9:345.80", "MEDGEN:78737", "NCIT:C7760", "SCTID:111498005", "UMLS:C0270849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002340", "name": "Tactile epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:2550", "GARD:0023121", "MEDGEN:97960", "NCIT:C4687", "SCTID:230449001", "UMLS:C0393724"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the arteries that is characterized by the presence of granulomas.", "id": "MONDO:0002341", "name": "Granulomatous angiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Granulomatous arteritis"], "xref": ["DOID:2555", "GARD:0023122", "MEDGEN:9088", "NCIT:C34653", "UMLS:C0018202"]}
{"category": ["biolink:Disease"], "description": "Pathological processes involving the chondral tissue (cartilage).", "id": "MONDO:0002342", "name": "Chondromalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2557", "ICD10CM:M94.2", "ICD9:733.92", "MEDGEN:39328", "SCTID:63198006", "UMLS:C0085700", "icd11.foundation:547071520"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the spleen.", "id": "MONDO:0002343", "name": "Splenic hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angioma of spleen", "angioma of the spleen", "hemangioma of spleen", "hemangioma of the spleen", "spleen angioma", "spleen hemangioma", "splenic angioma", "splenic hemangioma"], "xref": ["DOID:256", "GARD:0023123", "MEDGEN:151930", "NCIT:C8541", "SCTID:93472004", "UMLS:C0685201"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.", "id": "MONDO:0002345", "name": "Cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cervicitis", "cervicitis (disease)"], "xref": ["DOID:2568", "HP:0030160", "ICD10CM:N72", "ICD9:616.0", "MEDGEN:3338", "MESH:D002575", "NCIT:C26716", "SCTID:37610005", "UMLS:C0007860", "icd11.foundation:1433247301"]}
{"category": ["biolink:Disease"], "description": "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.", "id": "MONDO:0002347", "name": "Barbiturate dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2575", "ICD9:304.11", "ICD9:304.13", "MEDGEN:572756", "SCTID:231472009", "UMLS:C0338767"]}
{"category": ["biolink:Disease"], "description": "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0002350", "name": "Familial nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital nephrotic syndrome", "hereditary nephrotic syndrome"], "xref": ["DOID:2590", "GARD:0027602", "MEDGEN:502251", "NCIT:C35337", "OMIMPS:256300", "SCTID:48796009", "UMLS:C3501848", "icd11.foundation:1524476844"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.", "id": "MONDO:0002351", "name": "Glottis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of glottis", "glottis cancer", "malignant glottis neoplasm", "malignant glottis tumor", "malignant glottis tumour", "malignant neoplasm of glottis", "malignant neoplasm of the glottis", "malignant tumor of glottis", "malignant tumor of the glottis", "malignant tumour of glottis", "malignant tumour of the glottis"], "xref": ["DOID:2595", "GARD:0027603", "ICD10CM:C32.0", "ICD9:161.0", "MEDGEN:57560", "NCIT:C3544", "SCTID:187841006", "UMLS:C0153483", "icd11.foundation:1564166225"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.", "id": "MONDO:0002352", "name": "Larynx cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of larynx", "larynx cancer", "malignant laryngeal neoplasm", "malignant laryngeal tumor", "malignant laryngeal tumour", "malignant larynx neoplasm", "malignant larynx tumor", "malignant larynx tumour", "malignant neoplasm of larynx", "malignant neoplasm of the larynx", "malignant tumor of larynx", "malignant tumor of the larynx", "malignant tumour of larynx", "malignant tumour of the larynx"], "xref": ["DOID:2596", "EFO:1000354", "GARD:0027604", "ICD10CM:C32", "ICD9:161", "ICD9:161.8", "ICD9:161.9", "MEDGEN:2868", "NCIT:C7484", "SCTID:363429002", "UMLS:C0007107", "icd11.foundation:75194057"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the glottic area of the larynx.", "id": "MONDO:0002353", "name": "Glottis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glottis neoplasm", "glottis neoplasm (disease)", "glottis tumor", "glottis tumour", "neoplasm of glottis", "neoplasm of the glottis", "tumor of glottis", "tumor of the glottis", "tumour of glottis", "tumour of the glottis"], "xref": ["DOID:2597", "MEDGEN:138026", "NCIT:C4425", "SCTID:126693009", "UMLS:C0345713"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.", "id": "MONDO:0002354", "name": "Benign laryngeal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign laryngeal neoplasm", "benign laryngeal tumor", "benign laryngeal tumour", "benign larynx neoplasm", "benign larynx tumor", "benign larynx tumour", "benign neoplasm of larynx", "benign neoplasm of the larynx", "benign tumor of larynx", "benign tumor of the larynx", "benign tumour of larynx", "benign tumour of the larynx", "laryngeal neoplasm, benign", "larynx benign neoplasm"], "xref": ["DOID:2598", "ICD10CM:D14.1", "ICD9:212.1", "MEDGEN:56325", "NCIT:C3601", "SCTID:92175003", "UMLS:C0153952", "icd11.foundation:669823967"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the glottis.", "id": "MONDO:0002355", "name": "Glottis carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of glottis", "carcinoma of the glottis", "glottic carcinoma", "glottis carcinoma"], "xref": ["DOID:2599", "GARD:0027605", "MEDGEN:152820", "NCIT:C4923", "SCTID:372103002", "UMLS:C0740083"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.", "id": "MONDO:0002356", "name": "Pancreas disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of pancreas", "disease or disorder of pancreas", "disorder of pancreas", "pancreas disease", "pancreas disease or disorder", "pancreatic disorder"], "xref": ["DOID:26", "EFO:0009605", "ICD10CM:K86.9", "ICD9:577.8", "ICD9:577.9", "MEDGEN:14583", "MESH:D010182", "NCIT:C26842", "SCTID:3855007", "UMLS:C0030286", "icd11.foundation:1726554290"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the hepatic flexure of colon.", "id": "MONDO:0002357", "name": "Hepatic flexure cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of hepatic flexure of colon", "hepatic flexure of colon cancer", "malignant hepatic flexure of colon neoplasm", "malignant neoplasm of hepatic flexure", "malignant neoplasm of hepatic flexure of colon", "malignant tumour of hepatic flexure"], "xref": ["DOID:260", "ICD10CM:C18.3", "ICD9:153.0", "MEDGEN:509289", "SCTID:363407001", "UMLS:C0153433", "icd11.foundation:1629525135"]}
{"category": ["biolink:Disease"], "description": "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.", "id": "MONDO:0002358", "name": "Laryngeal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of larynx", "carcinoma of the larynx", "laryngeal carcinoma", "larynx carcinoma"], "xref": ["DOID:2600", "GARD:0006862", "MEDGEN:108889", "NCIT:C4855", "SCTID:276975007", "UMLS:C0595989"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.", "id": "MONDO:0002359", "name": "Periosteal chondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["juxtacortical chondroma", "juxtacortical chondroma (morphologic abnormality)", "periosteal chondroma"], "xref": ["DOID:2601", "GARD:0023124", "ICDO:9221/0", "MEDGEN:87260", "NCIT:C4302", "UMLS:C0334548"]}
{"category": ["biolink:Disease"], "description": "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.", "id": "MONDO:0002360", "name": "Chondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chondroma", "chondroma, benign"], "xref": ["DOID:2602", "ICDO:9220/0", "MEDGEN:181701", "MESH:D002812", "NCIT:C53459", "UMLS:C0936248"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the transverse colon.", "id": "MONDO:0002361", "name": "Transverse colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of transverse colon", "malignant neoplasm of transverse colon", "malignant transverse colon neoplasm", "malignant tumour of transverse colon", "transverse colon cancer"], "xref": ["DOID:261", "ICD10CM:C18.4", "ICD9:153.1", "MEDGEN:509290", "SCTID:363408006", "UMLS:C0153434", "icd11.foundation:315492123"]}
{"category": ["biolink:Disease"], "description": "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.", "id": "MONDO:0002362", "name": "Serous surface papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["serous surface papilloma", "serous surface papilloma (morphologic abnormality)", "serous surface papilloma NOS (morphologic abnormality)"], "xref": ["DOID:2614", "ICDO:8461/0", "MEDGEN:90770", "NCIT:C4181", "UMLS:C0334360"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.", "id": "MONDO:0002363", "name": "Papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papilloma", "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)", "papilloma, benign"], "xref": ["DOID:2615", "ICDO:8050/0", "MEDGEN:10566", "MESH:D010212", "NCIT:C7440", "SCTID:711329002", "UMLS:C0030354"]}
{"category": ["biolink:Disease"], "description": "A hemangiopericytoma arising from the kidney.", "id": "MONDO:0002365", "name": "Kidney hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangiopericytoma of kidney", "hemangiopericytoma of the kidney", "kidney hemangiopericytoma", "kidney spindle cell tumor", "kidney spindle cell tumour", "renal hemangiopericytoma"], "xref": ["DOID:262", "MEDGEN:1847044", "NCIT:C4527", "SCTID:254923001", "UMLS:C5848097"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.", "id": "MONDO:0002366", "name": "Autonomic nervous system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["autonomic nervous system neoplasm", "autonomic nervous system neoplasm (disease)", "autonomic nervous system neoplasms", "autonomic nervous system tumor", "autonomic nervous system tumour", "neoplasm of autonomic nervous system", "neoplasm of the autonomic nervous system", "tumor of autonomic nervous system", "tumor of the autonomic nervous system", "tumour of autonomic nervous system", "tumour of the autonomic nervous system"], "xref": ["DOID:2621", "MEDGEN:231389", "NCIT:C5112", "UMLS:C1332356"]}
{"category": ["biolink:Disease"], "description": "Primary or metastatic malignant neoplasm involving the kidney.", "id": "MONDO:0002367", "name": "Kidney cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of kidney", "kidney cancer", "malignant kidney neoplasm", "malignant kidney tumor", "malignant kidney tumour", "malignant neoplasm of kidney", "malignant neoplasm of the kidney", "malignant renal neoplasm", "malignant renal tumor", "malignant renal tumour", "malignant tumor of kidney", "malignant tumor of the kidney", "malignant tumour of the kidney"], "xref": ["DOID:263", "ICD9:189.0", "MEDGEN:149263", "MESH:D007680", "NCIT:C7548", "SCTID:363518003", "UMLS:C0740457"]}
{"category": ["biolink:Disease"], "description": "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.", "id": "MONDO:0002368", "name": "Papillary serous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary serous adenocarcinoma", "papillary serous cystadenocarcinoma", "serous surface papillary carcinoma (morphologic abnormality)"], "xref": ["DOID:2632", "ICDO:8460/3", "MEDGEN:825029", "NCIT:C8377", "SCTID:716649003", "UMLS:C3839184"]}
{"category": ["biolink:Disease"], "description": "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.", "id": "MONDO:0002369", "name": "Cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystadenoma", "cystadenoma (morphologic abnormality)", "cystadenoma, benign", "cystoma"], "xref": ["DOID:2634", "ICDO:8440/0", "MEDGEN:8221", "MESH:D003537", "NCIT:C2972", "UMLS:C0010633"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.", "id": "MONDO:0002370", "name": "Ovarian brenner tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Brenner neoplasm of ovary", "Brenner neoplasm of the ovary", "Brenner tumor of ovary", "Brenner tumor of the ovary", "Brenner tumour of ovary", "Brenner tumour of the ovary", "ovarian Brenner neoplasm", "ovarian Brenner tumor", "ovary Brenner tumor", "ovary Brenner tumour"], "xref": ["DOID:2636", "GARD:0009397", "MEDGEN:1716777", "NCIT:C3872", "SCTID:254859006", "UMLS:C5234884"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.", "id": "MONDO:0002371", "name": "Breast pericanalicular fibroadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast pericanalicular fibroadenoma", "pericanalicular breast fibroadenoma", "pericanalicular fibroadenoma", "pericanalicular fibroadenoma (morphologic abnormality)", "pericanalicular fibroadenoma of breast", "pericanalicular fibroadenoma of the breast"], "xref": ["DOID:2639", "ICDO:9012/0", "MEDGEN:90794", "NCIT:C4272", "UMLS:C0334497", "icd11.foundation:687161475"]}
{"category": ["biolink:Disease"], "description": "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.", "id": "MONDO:0002372", "name": "Ovarian monodermal and highly specialized teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian germ cell monodermal and highly specialised teratoma", "ovarian germ cell monodermal and highly specialized teratoma", "ovarian monodermal and highly specialized teratoma"], "xref": ["DOID:2641", "GARD:0023125", "MEDGEN:83601", "NCIT:C8113", "UMLS:C0280134"]}
{"category": ["biolink:Disease"], "description": "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.", "id": "MONDO:0002373", "name": "Benign mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign tumor of mesothelial tissue", "benign tumour of mesothelial tissue", "benign tumour of mesothelium", "mesothelioma, benign"], "xref": ["DOID:2645", "ICD9:215.9", "MEDGEN:578420", "SCTID:254825007", "UMLS:C0348424"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.", "id": "MONDO:0002375", "name": "Sebaceous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of sebaceous gland", "adenoma of the sebaceous gland", "adenoma, sebaceous, benign", "sebaceous adenoma (morphologic abnormality)", "sebaceous gland adenoma", "skin appendage sebaceous adenoma"], "xref": ["DOID:2648", "ICDO:8410/0", "MEDGEN:237152", "NCIT:C4174", "UMLS:C1368816"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the spleen.", "id": "MONDO:0002376", "name": "Spleen angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["angiosarcoma (disease) of spleen", "angiosarcoma of spleen", "angiosarcoma of the spleen", "hemangiosarcoma of spleen", "hemangiosarcoma of the spleen", "spleen angiosarcoma (disease)", "splenic angiosarcoma", "splenic hemangiosarcoma"], "xref": ["DOID:265", "GARD:0023126", "ICD9:159.1", "MEDGEN:83426", "NCIT:C4564", "SCTID:187821001", "UMLS:C0346424"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.", "id": "MONDO:0002377", "name": "Breast intracanalicular fibroadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast intracanalicular fibroadenoma", "intracanalicular breast fibroadenoma", "intracanalicular fibroadenoma", "intracanalicular fibroadenoma of breast", "intracanalicular fibroadenoma of the breast"], "xref": ["DOID:2656", "ICDO:9011/0", "MEDGEN:137772", "NCIT:C4271", "UMLS:C0334496"]}
{"category": ["biolink:Disease"], "description": "A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.", "id": "MONDO:0002378", "name": "Dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["benign cystic teratoma", "dermoid", "dermoid cyst", "dermoid cyst, benign", "dermoid tumor", "mature cystic teratoma", "subcutaneous cystic teratoma"], "xref": ["DOID:2658", "GARD:0023127", "ICDO:9084/0", "MEDGEN:41504", "MESH:D003884", "NCIT:C9011", "SCTID:441459009", "UMLS:C0011649", "icd11.foundation:1622534741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002379", "name": "Cystic teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cystic teratoma"], "xref": ["DOID:2660", "GARD:0023128", "MEDGEN:234578", "NCIT:C9014", "UMLS:C1368903", "icd11.foundation:882254343"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.", "id": "MONDO:0002380", "name": "Myoepithelial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myoepithelial neoplasm", "myoepithelial tumor", "myoepithelioma"], "xref": ["DOID:2661", "ICDO:8982/0", "ICDO:8982/1", "MEDGEN:10235", "MESH:D009208", "NCIT:C40392", "UMLS:C0027070"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from the sweat glands.", "id": "MONDO:0002381", "name": "Sweat gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of sweat gland", "neoplasm of the sweat gland", "sweat gland neoplasm", "sweat gland neoplasm (disease)", "sweat gland neoplasms", "sweat gland tumor", "sweat gland tumor (morphologic abnormality)", "sweat gland tumor NOS (morphologic abnormality)", "sweat gland tumour", "sweat gland tumour (morphologic abnormality)", "sweat gland tumour NOS (morphologic abnormality)", "tumor of sweat gland", "tumor of the sweat gland", "tumour of sweat gland", "tumour of the sweat gland"], "xref": ["DOID:2664", "EFO:1001204", "ICD9:239.2", "ICDO:8400/1", "MEDGEN:21039", "MESH:D013544", "NCIT:C3398", "SCTID:126490003", "UMLS:C0038987"]}
{"category": ["biolink:Disease"], "description": "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.", "id": "MONDO:0002382", "name": "Benign mesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesenchymal tumor, benign", "mesenchymoma, benign", "mesenchymoma, benign (morphologic abnormality)"], "xref": ["DOID:2667", "ICDO:8990/0", "MEDGEN:87251", "NCIT:C4267", "UMLS:C0334491"]}
{"category": ["biolink:Disease"], "description": "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.", "id": "MONDO:0002383", "name": "Pacinian tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Pacinian neurofibroma", "Pacinian tumor (morphologic abnormality)", "Pacinian tumour (morphologic abnormality)"], "xref": ["DOID:2669", "GARD:0023129", "ICD9:215.9", "ICDO:9507/0", "MEDGEN:87273", "NCIT:C4328", "SCTID:404033003", "UMLS:C0334599"]}
{"category": ["biolink:Disease"], "description": "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.", "id": "MONDO:0002385", "name": "Benign cystic nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cystic nephroma", "benign multilocular cystic nephroma", "cystic nephroma"], "xref": ["DOID:2673", "ICDO:8959/0", "MEDGEN:220422", "NCIT:C7504", "UMLS:C1266138"]}
{"category": ["biolink:Disease"], "description": "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.", "id": "MONDO:0002386", "name": "Mixed epithelial stromal tumor of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MEST", "benign MEST", "mixed epithelial and stromal tumor of kidney", "mixed epithelial and stromal tumour of kidney", "mixed epithelial stromal tumor of the kidney"], "xref": ["DOID:2678", "MEDGEN:220870", "NCIT:C37263", "UMLS:C1272677"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the liver.", "id": "MONDO:0002387", "name": "Liver angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angiosarcoma (disease) of liver", "angiosarcoma of liver", "angiosarcoma of the liver", "hemangiosarcoma of liver", "hemangiosarcoma of the liver", "hepatic angiosarcoma", "hepatic hemangiosarcoma", "liver angiosarcoma", "liver angiosarcoma (disease)", "liver hemangiosarcoma", "primary angiosarcoma of liver", "primary angiosarcoma of the liver"], "xref": ["DOID:268", "GARD:0005813", "ICD10CM:C22.3", "ICDO:9124/3", "MEDGEN:138027", "NCIT:C4438", "ONCOTREE:LIAS", "SCTID:109844006", "UMLS:C0345907", "icd11.foundation:965491615"]}
{"category": ["biolink:Disease"], "description": "A papillary epithelial neoplasm arising in a cystically dilated breast duct.", "id": "MONDO:0002388", "name": "Intracystic papillary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intracystic papillary adenoma (morphologic abnormality)"], "xref": ["DOID:2682", "ICDO:8504/0", "MEDGEN:87229", "NCIT:C4191", "UMLS:C0334374"]}
{"category": ["biolink:Disease"], "description": "An adenoma arising from the renal cortex.", "id": "MONDO:0002395", "name": "Renal adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma, renal cell, benign", "kidney adenoma", "renal adenoma", "renal cell adenoma (morphologic abnormality)", "renal tubule adenoma"], "xref": ["DOID:2697", "MEDGEN:137794", "NCIT:C8383", "UMLS:C0334684"]}
{"category": ["biolink:Disease"], "description": "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.", "id": "MONDO:0002396", "name": "Nephrogenic adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metanephric adenofibroma"], "xref": ["DOID:2698", "ICDO:8965/0", "MEDGEN:220424", "NCIT:C39812", "UMLS:C1266141"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.", "id": "MONDO:0002397", "name": "Liver sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hepatic sarcoma", "liver sarcoma", "sarcoma of liver", "sarcoma of the liver"], "xref": ["DOID:270", "GARD:0023130", "MEDGEN:87522", "NCIT:C4437", "SCTID:254601002", "UMLS:C0345906"]}
{"category": ["biolink:Disease"], "description": "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.", "id": "MONDO:0002398", "name": "Mucinous adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mucinous adenofibroma"], "xref": ["DOID:2700", "ICDO:9015/0", "MEDGEN:83158", "NCIT:C8978", "UMLS:C0334499"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.", "id": "MONDO:0002399", "name": "Tenosynovial giant cell tumor, localized type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["localised giant cell neoplasm of Tenosynovium", "localised giant cell neoplasm of tendon sheath", "localised giant cell neoplasm of the Tenosynovium", "localised giant cell tumour of Tenosynovium", "localised giant cell tumour of tendon sheath", "localised giant cell tumour of the Tenosynovium", "localised tenosynovial giant cell neoplasm", "localised tenosynovial giant cell tumour", "localized giant cell neoplasm of Tenosynovium", "localized giant cell neoplasm of tendon sheath", "localized giant cell neoplasm of the Tenosynovium", "localized giant cell tumor of Tenosynovium", "localized giant cell tumor of tendon sheath", "localized giant cell tumor of the Tenosynovium", "localized tenosynovial giant cell neoplasm", "localized tenosynovial giant cell tumor", "nodular tenosynovitis", "synovioma, benign (morphologic abnormality)", "tenosynovial giant cell tumor, localized type"], "xref": ["DOID:2701", "ICD9:727.02", "MEDGEN:154413", "NCIT:C6532", "SCTID:95413004", "UMLS:C0588125"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a synovial membrane.", "id": "MONDO:0002400", "name": "Synovitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of synovial membrane of synovial joint", "synovial membrane of synovial joint inflammation", "synovitis", "synovitis (disease)"], "xref": ["DOID:2703", "EFO:0008997", "HP:0100769", "MEDGEN:21051", "MESH:D013585", "NCIT:C50766", "SCTID:416209007", "UMLS:C0039103"]}
{"category": ["biolink:Disease"], "description": "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.", "id": "MONDO:0002401", "name": "Malignant tenosynovial giant cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["giant cell tumor of tendon sheath, malignant", "malignant giant cell neoplasm of tendon sheath", "malignant giant cell neoplasm of the tendon sheath", "malignant giant cell tumor of tendon sheath", "malignant giant cell tumor of the tendon sheath", "malignant giant cell tumour of tendon sheath", "malignant giant cell tumour of the tendon sheath", "malignant tendon sheath giant cell neoplasm", "malignant tendon sheath giant cell tumor", "malignant tendon sheath giant cell tumour", "malignant tenosynovial giant cell tumor", "tenosynovial giant cell tumor, malignant"], "xref": ["DOID:2704", "GARD:0027606", "ICDO:9252/3", "MEDGEN:226849", "NCIT:C6535", "UMLS:C1266168"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm characterized by then presence of atypical giant cells.", "id": "MONDO:0002402", "name": "Malignant giant cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["giant cell tumor, malignant", "malignant giant cell neoplasm", "malignant giant cell tumor", "malignant tumor, giant cell type", "malignant tumor, giant cell type (morphologic abnormality)"], "xref": ["DOID:2705", "ICDO:8003/3", "MEDGEN:90745", "NCIT:C4090", "UMLS:C0334229"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the layer of synovial tissue.", "id": "MONDO:0002403", "name": "Synovium cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of layer of synovial tissue", "cancer of synovial membrane of synovial joint", "layer of synovial tissue cancer", "malignant layer of synovial tissue neoplasm", "malignant neoplasm of layer of synovial tissue", "malignant neoplasm of synovial membrane of synovial joint", "malignant neoplasm of synovium", "malignant neoplasm of the synovium", "malignant synovial membrane of synovial joint neoplasm", "malignant synovial neoplasm", "malignant synovial tumor", "malignant synovial tumour", "malignant tumor of synovium", "malignant tumor of the synovium", "malignant tumour of synovium", "malignant tumour of the synovium", "synovial membrane of synovial joint cancer"], "xref": ["DOID:2706", "GARD:0027607", "MEDGEN:277340", "NCIT:C6531", "UMLS:C1334624"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the liver.", "id": "MONDO:0002404", "name": "Liver hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioma of liver", "hemangioma of liver", "hepatic angioma", "liver hemangioma"], "xref": ["DOID:271", "MEDGEN:66765", "NCIT:C3869", "SCTID:93469006", "UMLS:C0238246"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.", "id": "MONDO:0002405", "name": "Hepatic vascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hepatic vascular disorder", "liver vascular disorder"], "xref": ["DOID:272", "ICD9:573.8", "MEDGEN:140779", "NCIT:C35442", "SCTID:235878005", "UMLS:C0400923"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.", "id": "MONDO:0002406", "name": "Dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of skin", "inflammation of the skin", "inflammation of zone of skin", "inflammatory skin disease", "skin inflammation", "zone of skin inflammation"], "xref": ["DOID:2723", "ICD9:692.9", "MEDGEN:849741", "MESH:D003872", "NCIT:C2983", "SCTID:43116000", "UMLS:C3875321"]}
{"category": ["biolink:Disease"], "description": "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.", "id": "MONDO:0002407", "name": "Capillary hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["capillary angioma", "capillary hemangioma", "capillary hemangioma (morphologic abnormality)"], "xref": ["DOID:2725", "ICDO:9131/0", "MEDGEN:64643", "MESH:D018324", "NCIT:C7457", "SCTID:56975005", "UMLS:C0206733"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.", "id": "MONDO:0002408", "name": "Hereditary hyperbilirubinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hyperbilirubinemia"], "xref": ["DOID:2741", "GARD:0023131", "MEDGEN:6963", "MESH:D006933", "NCIT:C84761", "OMIMPS:237450", "UMLS:C0020435"]}
{"category": ["biolink:Disease"], "description": "A disease involving the auditory system.", "id": "MONDO:0002409", "name": "Auditory system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["auditory disease", "auditory system disease", "auditory system disease or disorder", "disease of auditory system", "disease or disorder of auditory system", "disorder of auditory system"], "xref": ["DOID:2742", "EFO:1001455", "ICD10CM:H60-H95", "MEDGEN:1846617", "SCTID:362966006", "UMLS:C5848260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002410", "name": "Pyeloureteritis cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2743", "ICD10CM:N28.85", "ICD9:590.3", "MEDGEN:510216", "SCTID:37779008", "UMLS:C0156254"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.", "id": "MONDO:0002411", "name": "Narcissistic personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2745", "ICD10CM:F60.81", "ICD9:301.81", "MEDGEN:10262", "NCIT:C92635", "SCTID:80711002", "UMLS:C0027402", "icd11.foundation:641223668"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.", "id": "MONDO:0002412", "name": "Disorder of glycogen metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GSD", "glycogen storage disease", "glycogen storage disorder", "glycogenoses", "glycogenosis", "inborn error of glycogen metabolic process", "inborn glycogen metabolic process disorder", "inborn glycogen storage disorder", "rare inborn error of glycogen metabolic process"], "xref": ["DOID:0050728", "DOID:2747", "GARD:0018973", "ICD10CM:E74.0", "ICD9:271.0", "MEDGEN:6639", "MESH:D006008", "MedDRA:10061990", "NANDO:1200838", "NCIT:C61272", "OMIMPS:232200", "Orphanet:79201", "SCTID:29633007", "UMLS:C0017919", "icd11.foundation:1187107383"]}
{"category": ["biolink:Disease"], "description": "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.", "id": "MONDO:0002413", "name": "Glycogen storage disease i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["G6P deficiency", "GSD due to G6P deficiency", "GSD type 1", "GSD type I", "GSD1", "Glycogen Storage Disease Type I", "glycogen storage disease I", "glycogen storage disease due to G6P deficiency", "glycogen storage disease due to glucose-6-phosphatase deficiency", "glycogen storage disease type 1", "glycogen storage disease type I", "glycogen storage disease, type I", "glycogenosis type 1", "glycogenosis type I", "hepatorenal glycogenosis", "von Gierke disease", "von Gierke's disease"], "xref": ["DOID:0081329", "GARD:0016523", "ICD10CM:E74.01", "MEDGEN:6640", "MESH:D005953", "MedDRA:10018464", "NANDO:1200840", "NANDO:1201018", "NANDO:2200538", "NCIT:C84733", "NORD:1193", "Orphanet:364", "SCTID:7265005", "UMLS:C0017920"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the stomach.", "id": "MONDO:0002414", "name": "Gastric hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of stomach", "angioma of the stomach", "gastric angioma", "gastric hemangioma", "hemangioma of stomach", "hemangioma of the stomach", "stomach hemangioma"], "xref": ["DOID:275", "MEDGEN:234297", "NCIT:C5481", "UMLS:C1333770"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the bone element.", "id": "MONDO:0002415", "name": "Bone carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone element carcinoma", "carcinoma of bone element"], "xref": ["DOID:2762", "GARD:0023132"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.", "id": "MONDO:0002416", "name": "Ethmoid sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of ethmoid sinus", "epidermoid carcinoma of ethmoidal sinus", "epidermoid carcinoma of the ethmoid sinus", "epidermoid carcinoma of the ethmoidal sinus", "ethmoid sinus epidermoid carcinoma", "ethmoid sinus squamous cell carcinoma", "ethmoidal sinus epidermoid carcinoma", "ethmoidal sinus squamous cell carcinoma", "squamous cell carcinoma of ethmoid sinus", "squamous cell carcinoma of ethmoidal sinus", "squamous cell carcinoma of the ethmoid sinus", "squamous cell carcinoma of the ethmoidal sinus"], "xref": ["DOID:2763", "GARD:0023133", "MEDGEN:272596", "NCIT:C6065", "SCTID:707359008", "UMLS:C1333477"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the epithelial cell", "id": "MONDO:0002418", "name": "Ethmoid sinus adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoma of the ethmoid sinus"], "xref": ["DOID:2766", "GARD:0023134", "MEDGEN:272595", "NCIT:C6237", "UMLS:C1333472"]}
{"category": ["biolink:Disease"], "description": "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.", "id": "MONDO:0002419", "name": "Transient tic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Tic disorder of childhood"], "xref": ["DOID:2768", "ICD10CM:F95.0", "ICD9:307.21", "MEDGEN:52814", "NCIT:C116767", "SCTID:56573006", "UMLS:C0040702"]}
{"category": ["biolink:Disease"], "description": "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)", "id": "MONDO:0002420", "name": "Tic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2769", "ICD10CM:F95", "ICD9:307.2", "ICD9:307.20", "MEDGEN:853666", "MESH:D013981", "SCTID:568005", "UMLS:C2169806"]}
{"category": ["biolink:Disease"], "description": "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.", "id": "MONDO:0002422", "name": "Adamantinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Extragnathic adamantinoma", "adamantinoma", "adamantinoma of long bones", "adamantinoma of long bones (morphologic abnormality)", "adamantinoma, malignant", "long bone adamantinoma"], "xref": ["DOID:2775", "DOID:2776", "GARD:0016660", "ICD9:170.9", "ICDO:9261/3", "MEDGEN:83163", "MESH:C562741", "MESH:D050398", "NCIT:C7644", "OMIM:102660", "ONCOTREE:ADMA", "Orphanet:55881", "SCTID:307609003", "UMLS:C0334556", "icd11.foundation:2013322169"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "id": "MONDO:0002423", "name": "Rectosigmoid junction neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of rectosigmoid junction", "neoplasm of the rectosigmoid junction", "rectosigmoid junction neoplasm (disease)", "rectosigmoid junction tumor", "rectosigmoid junction tumour", "rectosigmoid neoplasm", "rectosigmoid tumor", "rectosigmoid tumour", "tumor of rectosigmoid junction", "tumor of the rectosigmoid junction", "tumour of rectosigmoid junction", "tumour of the rectosigmoid junction"], "xref": ["DOID:2780", "MEDGEN:87517", "NCIT:C4877", "SCTID:126848003", "UMLS:C0345873"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.", "id": "MONDO:0002424", "name": "Rectosigmoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of rectosigmoid junction", "rectosigmoid cancer", "rectosigmoid carcinoma", "rectosigmoid junction carcinoma"], "xref": ["DOID:2781", "MEDGEN:232963", "NCIT:C7421", "UMLS:C1327709", "icd11.foundation:1415734886"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0002425", "name": "Rectosigmoid junction cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of rectosigmoid junction", "malignant neoplasm of rectosigmoid", "malignant neoplasm of rectosigmoid junction", "malignant neoplasm of the rectosigmoid junction", "malignant rectosigmoid junction neoplasm", "malignant rectosigmoid neoplasm", "malignant rectosigmoid tumor", "malignant rectosigmoid tumour", "malignant tumor of rectosigmoid junction", "malignant tumor of the rectosigmoid junction", "malignant tumour of rectosigmoid junction", "malignant tumour of the rectosigmoid junction", "rectosigmoid junction cancer"], "xref": ["DOID:2782", "ICD10CM:C19", "ICD9:154.0", "MEDGEN:57558", "NCIT:C7420", "SCTID:363414004", "UMLS:C0153443", "icd11.foundation:774170412"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.", "id": "MONDO:0002426", "name": "Lung sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["lung sarcoma", "pulmonary sarcoma", "sarcoma of lung", "sarcoma of the lung"], "xref": ["DOID:2784", "GARD:0023135", "MEDGEN:109336", "NCIT:C4860", "UMLS:C0598790"]}
{"category": ["biolink:Disease"], "description": "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.", "id": "MONDO:0002427", "name": "Cerebellar disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebellum disease", "cerebellum disease or disorder", "disease of cerebellum", "disease or disorder of cerebellum", "disorder of cerebellum"], "xref": ["DOID:2786", "MEDGEN:40186", "MESH:D002526", "SCTID:223176004", "UMLS:C0007760"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by protozoans.", "id": "MONDO:0002428", "name": "Protozoa infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["protozoal infection"], "xref": ["DOID:2789", "ICD10CM:B50-B64", "MESH:D011528", "NCIT:C34953"]}
{"category": ["biolink:Disease"], "description": "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).", "id": "MONDO:0002429", "name": "Idiopathic interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["IIP", "IIp", "idiopathic fibrosing alveolitis", "idiopathic interstitial pneumonitis", "noninfectious pneumonia"], "xref": ["DOID:2797", "GARD:0013337", "ICD10CM:J84.11", "MEDGEN:389939", "MESH:D054988", "NANDO:1200416", "NANDO:2200199", "NCIT:C35714", "Orphanet:98300", "SCTID:700249006", "UMLS:C2350236"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the vestibulocochlear nerve.", "id": "MONDO:0002432", "name": "Malignant neoplasm of acoustic nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of the vestibulocochlear nerve", "cancer of vestibulocochlear nerve", "malignant acoustic nerve neoplasm", "malignant acoustic nerve tumor", "malignant acoustic nerve tumour", "malignant eighth cranial nerve neoplasm", "malignant eighth cranial nerve tumor", "malignant eighth cranial nerve tumour", "malignant neoplasm of eighth cranial nerve", "malignant neoplasm of the acoustic nerve", "malignant neoplasm of the eighth cranial nerve", "malignant neoplasm of the vestibulocochlear nerve", "malignant neoplasm of vestibulocochlear nerve", "malignant tumor of acoustic nerve", "malignant tumor of eighth cranial nerve", "malignant tumor of the acoustic nerve", "malignant tumor of the eighth cranial nerve", "malignant tumor of the vestibulocochlear nerve", "malignant tumor of vestibulocochlear nerve", "malignant tumour of acoustic nerve", "malignant tumour of eighth cranial nerve", "malignant tumour of the acoustic nerve", "malignant tumour of the eighth cranial nerve", "malignant tumour of the vestibulocochlear nerve", "malignant tumour of vestibulocochlear nerve", "malignant vestibulocochlear nerve neoplasm", "malignant vestibulocochlear nerve tumor", "malignant vestibulocochlear nerve tumour", "vestibulocochlear nerve cancer"], "xref": ["DOID:2814", "ICD10CM:C72.4", "MEDGEN:83418", "NCIT:C4539", "SCTID:254980001", "UMLS:C0346331"]}
{"category": ["biolink:Disease"], "description": "Abnormal malignant growth of the cells that comprise the cranial nerve.", "id": "MONDO:0002433", "name": "Malignant cranial nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of cranial nerve", "cranial nerve cancer", "cranial nerve neoplasm, malignant", "malignant cranial nerve neoplasm", "malignant cranial nerve tumor", "malignant cranial nerve tumour", "malignant neoplasm of cranial nerve", "malignant neoplasm of cranial nerves", "malignant neoplasm of the cranial nerve", "malignant tumor of cranial nerve", "malignant tumor of the cranial nerve", "malignant tumour of cranial nerve", "malignant tumour of the cranial nerve"], "xref": ["DOID:2815", "ICD9:192.0", "MEDGEN:57567", "NCIT:C3571", "SCTID:188307009", "UMLS:C0153644"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a oculomotor nerve.", "id": "MONDO:0002434", "name": "Oculomotor nerve cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IIIrd cranial nerve neoplasm, malignant", "cancer of oculomotor nerve", "malignant neoplasm of oculomotor nerve", "malignant oculomotor nerve neoplasm", "oculomotor nerve cancer", "oculomotor nerve neoplasm, malignant", "primary malignant neoplasm of oculomotor nerve"], "xref": ["DOID:2816", "MEDGEN:195786", "NCIT:C6995", "SCTID:93929003", "UMLS:C0686417", "icd11.foundation:317144943"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a oculomotor nerve.", "id": "MONDO:0002435", "name": "Oculomotor nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IIIrd cranial nerve tumor", "IIIrd cranial nerve tumour", "neoplasm of oculomotor nerve", "oculomotor nerve neoplasm", "oculomotor nerve neoplasm (disease)", "oculomotor nerve tumor", "tumor of oculomotor nerve", "tumour of oculomotor nerve"], "xref": ["DOID:2817", "ICD9:239.7", "MEDGEN:220391", "NCIT:C6994", "SCTID:126969002", "UMLS:C1263895"]}
{"category": ["biolink:Disease"], "description": "A disease involving the nose.", "id": "MONDO:0002436", "name": "Nasal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of nose", "disease or disorder of nose", "disorder of nose", "nose disease", "nose disease or disorder"], "xref": ["DOID:2825", "ICD9:478.19", "MEDGEN:10385", "MESH:D009668", "SCTID:89488007", "UMLS:C0028432"]}
{"category": ["biolink:Disease"], "description": "Polycythemia resulting from dehydration.", "id": "MONDO:0002437", "name": "Dehydration polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:2833", "GARD:0023136", "MEDGEN:163544", "NCIT:C27310", "UMLS:C0856815"]}
{"category": ["biolink:Disease"], "description": "An instance of polycythemia that is acquired during the lifetime of the individual.", "id": "MONDO:0002438", "name": "Acquired polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["acquired polycythemia", "acquired polycythemia (disease)"], "xref": ["DOID:2834", "GARD:0023137", "ICD9:289.0"]}
{"category": ["biolink:Disease"], "description": "Polycythemia that is caused by excess erythropoietin.", "id": "MONDO:0002440", "name": "Erythropoietin polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["polycythaemia due to Excess erythropoetin production", "polycythemia due to excess erythopoetin production"], "xref": ["DOID:2839", "GARD:0023138", "MEDGEN:98214", "NCIT:C35434", "SCTID:367328005", "UMLS:C0391869"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.", "id": "MONDO:0002441", "name": "Jervell and lange-nielsen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Jervell Lange-Nielsen syndrome", "Jervell and Lange Nielsen syndrome", "long QT interval-deafness syndrome"], "xref": ["DOID:2842", "GARD:0003048", "MEDGEN:5929", "MESH:D029593", "MedDRA:10057936", "NCIT:C84793", "NORD:1310", "OMIMPS:220400", "Orphanet:90647", "SCTID:373905003", "UMLS:C0022387"]}
{"category": ["biolink:Disease"], "description": "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.", "id": "MONDO:0002442", "name": "Long qt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["long QT syndrome", "ventricular arrhythmia associated with long QT syndrome"], "xref": ["DOID:2843", "GARD:0027044", "ICD10CM:I45.81", "ICD9:426.82", "MEDGEN:44193", "MESH:D008133", "NANDO:2100053", "NANDO:2200228", "NCIT:C34786", "UMLS:C0023976"]}
{"category": ["biolink:Disease"], "description": "Excessive clenching of the jaw and grinding of the teeth.", "id": "MONDO:0002443", "name": "Bruxism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bruxism", "bruxism (disease)", "sleep related bruxism"], "xref": ["DOID:2846", "HP:0003763", "ICD10CM:G47.63", "ICD9:327.53", "MEDGEN:676", "MESH:D002012", "UMLS:C0006325", "icd11.foundation:1046319083"]}
{"category": ["biolink:Disease"], "description": "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.", "id": "MONDO:0002444", "name": "Melancholia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["depression with melancholic features", "melancholic depression"], "xref": ["DOID:2848", "EFO:1002014", "MEDGEN:6288", "NCIT:C34812", "UMLS:C0025193"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.", "id": "MONDO:0002447", "name": "Endometrial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of endometrium", "carcinoma of the endometrium", "carcinoma, endometrial, malignant", "endometrial carcinoma", "endometrial carcinoma (disease)", "endometrium carcinoma"], "xref": ["DOID:2871", "EFO:1001512", "HP:0012114", "MEDGEN:96903", "NCIT:C7558", "ONCOTREE:UCEC", "SCTID:254878006", "UMLS:C0476089", "icd11.foundation:1123821211"]}
{"category": ["biolink:Disease"], "description": "A rare malignant soft tissue neoplasm that arises from the larynx.", "id": "MONDO:0002448", "name": "Laryngeal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal sarcoma", "larynx sarcoma", "sarcoma of larynx", "sarcoma of the larynx"], "xref": ["DOID:2877", "GARD:0023139", "MEDGEN:233610", "NCIT:C6020", "UMLS:C1334377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002449", "name": "Nodular degeneration of cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2879", "ICD9:371.46", "MEDGEN:509799", "SCTID:72620002", "UMLS:C0155122"]}
{"category": ["biolink:Disease"], "description": "Focal benign glandular hyperplasia in the prostate gland.", "id": "MONDO:0002450", "name": "Prostatic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of the prostate", "prostate gland adenoma"], "xref": ["DOID:2883", "ICD9:600.20", "MEDGEN:105447", "NCIT:C4795", "SCTID:21173002", "UMLS:C0520477"]}
{"category": ["biolink:Disease"], "description": "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.", "id": "MONDO:0002451", "name": "Benign prostate phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign phyllodes neoplasm of prostate", "benign phyllodes neoplasm of the prostate", "benign phyllodes tumor of prostate", "benign phyllodes tumor of the prostate", "benign phyllodes tumour of prostate", "benign phyllodes tumour of the prostate", "benign prostate phyllodes neoplasm", "benign prostate phyllodes tumor", "prostate phyllodes tumor, benign"], "xref": ["DOID:2885", "GARD:0023140", "MEDGEN:272364", "NCIT:C5532", "UMLS:C1332535"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0002452", "name": "Prostate leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of prostate", "leiomyoma of prostate gland", "leiomyoma of the prostate", "prostate gland leiomyoma", "prostate leiomyoma", "prostatic leiomyoma"], "xref": ["DOID:2887", "MEDGEN:233875", "NCIT:C5544", "UMLS:C1335510"]}
{"category": ["biolink:Disease"], "description": "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.", "id": "MONDO:0002453", "name": "Retrocochlear disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2889", "MEDGEN:11216", "MESH:D012181", "UMLS:C0035352"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the squamous epithelium of the exocervix.", "id": "MONDO:0002455", "name": "Exocervical carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of ectocervix", "carcinoma of exocervix", "carcinoma of the exocervix", "ectocervix carcinoma", "exocervical cancer", "exocervical carcinoma", "exocervix carcinoma"], "xref": ["DOID:2892", "MEDGEN:226967", "NCIT:C7453", "SCTID:372100004", "UMLS:C1299238"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.", "id": "MONDO:0002457", "name": "Treacher-collins syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Franceschetti-Klein syndrome", "Treacher Collins Syndrome", "Treacher Collins syndrome", "Treacher-Collins syndrome", "mandibulofacial dysostosis without limb anomalies"], "xref": ["DOID:2908", "GARD:0009124", "MEDGEN:66078", "MedDRA:10051456", "NCIT:C75018", "NORD:1785", "OMIMPS:154500", "Orphanet:861", "SCTID:62767009", "UMLS:C0242387", "icd11.foundation:969026676"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of type IV hypersensitivity.", "id": "MONDO:0002459", "name": "Type iv hypersensitivity disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DTH", "delayed hypersensitivity reaction", "delayed-type hypersensitivity", "delayed-type hypersensitivity response", "disorder of type IV hypersensitivity", "type 4 hypersensitivity reaction", "type IV hypersensitivity", "type IV hypersensitivity reaction"], "xref": ["DOID:2916", "MEDGEN:9371", "NCIT:C3115", "UMLS:C0020522"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the lacrimal apparatus.", "id": "MONDO:0002460", "name": "Lacrimal system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of lacrimal apparatus", "lacrimal apparatus cancer", "lacrimal system neoplasm", "lacrimal system neoplasms", "lacrimal system tumor", "lacrimal system tumour", "malignant lacrimal apparatus neoplasm", "malignant neoplasm of lacrimal apparatus", "neoplasm of lacrimal system", "neoplasm of the lacrimal system", "tumor of lacrimal system", "tumor of the lacrimal system", "tumour of lacrimal system", "tumour of the lacrimal system"], "xref": ["DOID:292", "MEDGEN:272790", "NCIT:C5102", "SCTID:416510003", "UMLS:C1334361", "icd11.foundation:456911769"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.", "id": "MONDO:0002461", "name": "Membranoproliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["membranoproliferative glomerulonephritis", "membranoproliferative glomerulonephritis (disease)"], "xref": ["DOID:2920", "GARD:0023141", "HP:0000793", "MEDGEN:9033", "MESH:D015432", "NANDO:1200737", "NANDO:2200123", "NCIT:C34644", "SCTID:80321008", "UMLS:C0017662"]}
{"category": ["biolink:Disease"], "description": "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.", "id": "MONDO:0002462", "name": "Glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["glomerular nephritis", "glomerulonephritis", "glomerulonephritis (disease)", "nephritis of renal glomerulus", "renal glomerulus nephritis"], "xref": ["DOID:2921", "GARD:0006516", "HP:0000099", "ICD9:583.9", "MEDGEN:6616", "MESH:D005921", "NCIT:C26784", "SCTID:36171008", "UMLS:C0017658"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the lacrimal gland.", "id": "MONDO:0002463", "name": "Lacrimal gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of lacrimal gland", "carcinoma of the lacrimal gland", "lacrimal gland carcinoma"], "xref": ["DOID:293", "MEDGEN:233606", "NCIT:C6129", "UMLS:C1334358"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the lacrimal gland.", "id": "MONDO:0002464", "name": "Lacrimal gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of lacrimal gland", "lacrimal gland cancer", "malignant lacrimal gland neoplasm", "malignant lacrimal gland tumor", "malignant lacrimal gland tumour", "malignant neoplasm of lacrimal gland", "malignant neoplasm of the lacrimal gland", "malignant tumor of lacrimal gland", "malignant tumor of the lacrimal gland", "malignant tumour of the lacrimal gland"], "xref": ["DOID:294", "ICD9:190.2", "ICD9:239.89", "MEDGEN:56315", "NCIT:C3563", "SCTID:127004000", "UMLS:C0153627"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.", "id": "MONDO:0002465", "name": "Bronchiolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchiolitis", "bronchiolitis (disease)", "wheezy bronchitis"], "xref": ["DOID:2942", "HP:0011950", "ICD9:466.19", "MEDGEN:14235", "MESH:D001988", "NCIT:C39658", "SCTID:4120002", "UMLS:C0006271"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the eye", "id": "MONDO:0002466", "name": "Eye carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of eye", "carcinoma of eyeball of camera-type eye", "carcinoma of the eye", "eye carcinoma", "eyeball of camera-type eye carcinoma", "ocular carcinoma"], "xref": ["DOID:295", "MEDGEN:208855", "NCIT:C6079", "UMLS:C0848866"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.", "id": "MONDO:0002467", "name": "Inner ear disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of internal ear", "disease or disorder of internal ear", "disorder of internal ear", "inner Ear disorder", "internal Ear disorder", "internal ear disease", "internal ear disease or disorder"], "xref": ["DOID:2952", "EFO:0009672", "ICD10CM:H80-H83", "MEDGEN:141671", "MESH:D007759", "NCIT:C27166", "SCTID:232297009", "UMLS:C0494559"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002468", "name": "Hyperimmunoglobulin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hyperimmunoglobulin syndrome"], "xref": ["DOID:2959", "GARD:0023142", "MEDGEN:272730", "NCIT:C27579", "UMLS:C1334069"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.", "id": "MONDO:0002469", "name": "Lacrimal gland carcinoma ex pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma Ex pleomorphic adenoma of the lacrimal gland", "carcinoma ex pleomorphic adenoma of lacrimal gland", "carcinoma ex pleomorphic adenoma of the lacrimal gland", "lacrimal gland carcinoma ex pleomorphic adenoma", "lacrimal gland malignant mixed neoplasm", "lacrimal gland malignant mixed tumor", "lacrimal gland malignant mixed tumour", "malignant mixed neoplasm of lacrimal gland", "malignant mixed neoplasm of the lacrimal gland", "malignant mixed tumor of lacrimal gland", "malignant mixed tumor of the lacrimal gland", "malignant mixed tumour of lacrimal gland", "malignant mixed tumour of the lacrimal gland"], "xref": ["DOID:296", "MEDGEN:138058", "NCIT:C6804", "SCTID:254989000", "UMLS:C0346342"]}
{"category": ["biolink:Disease"], "description": "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway", "id": "MONDO:0002470", "name": "Photosensitive trichothiodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2960", "GARD:0023143", "MEDGEN:336339", "NANDO:1200626", "Orphanet:453", "UMLS:C1848412"]}
{"category": ["biolink:Disease"], "description": "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.", "id": "MONDO:0002471", "name": "Bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of synovial bursa", "synovial bursa inflammation"], "xref": ["DOID:2965", "ICD9:727.3", "MEDGEN:691", "MESH:D002062", "NCIT:C94407", "SCTID:84017003", "UMLS:C0006444", "icd11.foundation:1984620329"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.", "id": "MONDO:0002472", "name": "Carcinoma ex pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma ex pleomorphic adenoma", "carcinoma ex pleomorphic adenoma (morphologic abnormality)", "carcinoma in pleomorphic adenoma"], "xref": ["ICDO:8941/3", "MEDGEN:87486", "NCIT:C4397", "UMLS:C0344460"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired kidney disorder characterized by the presence of renal cysts.", "id": "MONDO:0002473", "name": "Cystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystic renal disease", "kidney cyst"], "xref": ["DOID:2975", "EFO:0008615", "ICD10CM:Q61", "ICD10WHO:Q61", "MEDGEN:854361", "MESH:D052177", "NANDO:2200172", "NCIT:C34750", "SCTID:722223000", "UMLS:C3887499"]}
{"category": ["biolink:Disease"], "description": "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.", "id": "MONDO:0002474", "name": "Primary hyperoxaluria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperoxaluria, primary", "primary hyperoxaluria"], "xref": ["DOID:2977", "GARD:0016530", "ICD10CM:E72.53", "ICD9:271.8", "MEDGEN:5697", "MESH:D006960", "MedDRA:10020703", "NANDO:2200503", "NCIT:C123158", "NORD:1608", "OMIMPS:259900", "Orphanet:416", "SCTID:17901006", "UMLS:C0020501"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the lacrimal gland", "id": "MONDO:0002475", "name": "Lacrimal gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of lacrimal gland", "adenocarcinoma of the lacrimal gland", "lacrimal gland adenocarcinoma"], "xref": ["DOID:298", "MEDGEN:87556", "NCIT:C4541", "SCTID:254988008", "UMLS:C0346341"]}
{"category": ["biolink:Disease"], "description": "Absence of urine output.", "id": "MONDO:0002476", "name": "Anuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["suppression of urinary secretion"], "xref": ["DOID:2983", "EFO:0009530", "MEDGEN:358", "MESH:D001002", "UMLS:C0003460", "icd11.foundation:248693056"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.", "id": "MONDO:0002477", "name": "Prostate neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neuroendocrine neoplasm of prostate", "neuroendocrine neoplasm of prostate gland", "neuroendocrine neoplasm of the prostate", "neuroendocrine tumour of the prostate", "prostate gland NET", "prostate gland neuroendocrine neoplasm", "prostate gland neuroendocrine tumor", "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade", "prostate gland neuroendocrine tumour", "prostate neuroendocrine neoplasm"], "xref": ["DOID:2992", "GARD:0023144", "MEDGEN:277537", "NCIT:C5545", "ONCOTREE:PRNE", "UMLS:C1335515"]}
{"category": ["biolink:Disease"], "description": "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.", "id": "MONDO:0002478", "name": "Mixed germ cell-sex cord-stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed germ cell-Sex cord neoplasm", "mixed germ cell-Sex cord tumor", "mixed germ cell-Sex cord tumour", "mixed germ cell-Sex cord-stromal neoplasm", "mixed germ cell-Sex cord-stromal tumor", "mixed germ cell-Sex cord-stromal tumour", "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)", "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)"], "xref": ["DOID:2996", "MEDGEN:232941", "NCIT:C5241", "UMLS:C1321220"]}
{"category": ["biolink:Disease"], "description": "A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.", "id": "MONDO:0002479", "name": "Sertoli-leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:2997", "GARD:0009967", "MEDGEN:61669", "MESH:D018310", "ONCOTREE:SLCT", "UMLS:C0206723"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.", "id": "MONDO:0002480", "name": "Endometrioid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrioid neoplasm", "endometrioid neoplasm of female reproductive system", "endometrioid neoplasm of the female reproductive system", "endometrioid tumor", "endometrioid tumor (morphologic abnormality)", "endometrioid tumor of female reproductive system", "endometrioid tumor of the female reproductive system", "endometrioid tumour (morphologic abnormality)", "endometrioid tumour of female reproductive system", "endometrioid tumour of the female reproductive system", "female reproductive endometrioid neoplasm", "female reproductive endometrioid tumor", "female reproductive endometrioid tumour"], "xref": ["DOID:3001", "MEDGEN:105374", "NCIT:C7113", "UMLS:C0474809"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.", "id": "MONDO:0002481", "name": "Ovarian neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neuroendocrine neoplasm of ovary", "neuroendocrine neoplasm of the ovary", "neuroendocrine tumour of ovary", "ovarian neuroendocrine neoplasm", "ovary NET", "ovary neuroendocrine neoplasm", "ovary neuroendocrine tumor", "ovary neuroendocrine tumor, well differentiated, low or intermediate grade", "ovary neuroendocrine tumour"], "xref": ["DOID:3002", "GARD:0023145", "MEDGEN:277459", "NCIT:C5237", "UMLS:C1335172"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises in the area of the nipple.", "id": "MONDO:0002482", "name": "Nipple neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of nipple", "neoplasm of the nipple", "nipple neoplasm", "nipple neoplasm (disease)", "nipple tumor", "nipple tumour", "tumor of nipple", "tumor of the nipple", "tumour of nipple", "tumour of the nipple"], "xref": ["DOID:3003", "MEDGEN:205111", "NCIT:C5212", "UMLS:C1112166"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.", "id": "MONDO:0002483", "name": "Breast myoepithelial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast myoepithelial neoplasm", "breast myoepithelial tumor"], "xref": ["DOID:3004", "MEDGEN:267411", "NCIT:C40389", "UMLS:C1511319"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.", "id": "MONDO:0002485", "name": "Breast neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast NET", "breast endocrine neoplasm", "breast neuroendocrine neoplasm", "breast neuroendocrine tumor", "breast neuroendocrine tumor, well differentiated, low or intermediate grade", "breast neuroendocrine tumour", "neuroendocrine neoplasm of breast", "neuroendocrine neoplasm of the breast", "neuroendocrine tumour of the breast"], "xref": ["DOID:3009", "GARD:0023146", "MEDGEN:231969", "NCIT:C5169", "UMLS:C1332635"]}
{"category": ["biolink:Disease"], "description": "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.", "id": "MONDO:0002486", "name": "Lobular neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LIN", "LN", "lobular intraepithelial neoplasia", "lobular neoplasia"], "xref": ["DOID:3010", "MEDGEN:167824", "NCIT:C27939", "UMLS:C0861352"]}
{"category": ["biolink:Disease"], "description": "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.", "id": "MONDO:0002487", "name": "Breast granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast granular cell tumor", "granular cell tumor of breast", "granular cell tumour of breast"], "xref": ["DOID:3011", "GARD:0023147", "MEDGEN:307309", "NCIT:C40400", "UMLS:C1511312"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.", "id": "MONDO:0002488", "name": "Intraductal breast neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraductal breast neoplasm"], "xref": ["DOID:3013", "MEDGEN:184927", "NCIT:C36083", "UMLS:C0948967"]}
{"category": ["biolink:Disease"], "description": "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.", "id": "MONDO:0002489", "name": "Malignant breast phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["breast phyllodes tumor, malignant", "malignant breast phyllodes neoplasm", "malignant breast phyllodes tumor", "malignant cystosarcoma phyllodes of breast", "malignant cystosarcoma phyllodes of the breast", "malignant mammary phyllodes neoplasm", "malignant mammary phyllodes tumor", "malignant phyllodes breast neoplasm", "malignant phyllodes neoplasm of breast", "malignant phyllodes neoplasm of the breast", "malignant phyllodes tumor (morphologic abnormality)", "malignant phyllodes tumor of breast", "malignant phyllodes tumor of the breast", "malignant phyllodes tumour (morphologic abnormality)", "malignant phyllodes tumour of breast", "malignant phyllodes tumour of the breast"], "xref": ["DOID:3016", "EFO:0008545", "GARD:0023148", "MEDGEN:87543", "NCIT:C4504", "ONCOTREE:MPT", "SCTID:254844000", "UMLS:C0346154", "icd11.foundation:147026376"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.", "id": "MONDO:0002490", "name": "Breast sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["breast sarcoma", "sarcoma of breast", "sarcoma of the breast"], "xref": ["DOID:3017", "GARD:0023149", "MEDGEN:87613", "NCIT:C4670", "ONCOTREE:PBS", "SCTID:278050001", "UMLS:C0349667"]}
{"category": ["biolink:Disease"], "description": "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.", "id": "MONDO:0002491", "name": "Substance abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:302", "ICD9:305.90", "MEDGEN:152849", "SCTID:66214007", "UMLS:C0740858"]}
{"category": ["biolink:Disease"], "description": "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.", "id": "MONDO:0002492", "name": "Acute kidney injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AKI", "ARF", "acute kidney failure", "acute renal failure", "kidney failure, acute"], "xref": ["DOID:3021", "ICD10CM:N17", "MEDGEN:388570", "MESH:D058186", "NCIT:C26808", "UMLS:C2609414", "icd11.foundation:476391827"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.", "id": "MONDO:0002493", "name": "Prostatic acinar adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinar adenocarcinoma of prostate", "acinar adenocarcinoma of the prostate", "acinar prostate adenocarcinoma", "prostate acinar adenocarcinoma", "prostatic acinar adenocarcinoma"], "xref": ["DOID:3024", "GARD:0027608", "MEDGEN:231350", "NCIT:C5596", "UMLS:C1332139"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).", "id": "MONDO:0002494", "name": "Substance-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["substance induced mood disorders", "substance-related disorder"], "xref": ["DOID:303", "ICD10CM:F10-F19", "MEDGEN:66746", "MESH:D019966", "NCIT:C92203", "UMLS:C0236969"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.", "id": "MONDO:0002495", "name": "Colon signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colon signet Ring cell adenocarcinoma", "colonic signet Ring cell adenocarcinoma", "signet Ring cell adenocarcinoma of colon", "signet Ring cell adenocarcinoma of the colon", "signet Ring cell colon adenocarcinoma"], "xref": ["DOID:3033", "MEDGEN:313039", "NCIT:C7967", "UMLS:C1707436"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma of the colon that has invaded into the submucosa.", "id": "MONDO:0002496", "name": "Submucosal invasive colon adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["submucosal invasive colon adenocarcinoma"], "xref": ["DOID:3038", "MEDGEN:271523", "NCIT:C38760", "UMLS:C1515024"]}
{"category": ["biolink:Disease"], "description": "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.", "id": "MONDO:0002501", "name": "Brain glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain glioblastoma", "brain glioblastoma (disease)", "brain glioblastoma multiforme", "brain glioblastoma multiforme (disease)", "glioblastoma multiforme of brain", "glioblastoma multiforme of the brain", "grade IV astrocytic tumour of brain", "grade IV brain astrocytic tumour"], "xref": ["DOID:3073", "EFO:0006545", "GARD:0023150", "MEDGEN:138100", "NCIT:C4642", "SCTID:276828006", "UMLS:C0349543"]}
{"category": ["biolink:Disease"], "description": "An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.", "id": "MONDO:0002503", "name": "Adult astrocytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult astrocytic neoplasm", "adult astrocytic tumor"], "xref": ["DOID:3076", "GARD:0023151", "MEDGEN:272290", "NCIT:C7049", "UMLS:C1332183"]}
{"category": ["biolink:Disease"], "description": "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.", "id": "MONDO:0002505", "name": "Childhood astrocytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["astrocytic tumor of childhood", "astrocytic tumors, childhood", "astrocytic tumour of childhood", "childhood astrocytic neoplasm", "childhood astrocytic tumor", "juvenile astrocytoma", "juvenile astrocytoma (morphologic abnormality)", "paediatric astrocytic neoplasm", "paediatric astrocytic tumour", "paediatric astrocytoma", "pediatric astrocytic neoplasm", "pediatric astrocytic tumor"], "xref": ["DOID:3079", "GARD:0023152", "MEDGEN:272112", "NCIT:C9022", "UMLS:C1321865"]}
{"category": ["biolink:Disease"], "description": "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)", "id": "MONDO:0002507", "name": "Gingival overgrowth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gingival enlargement"], "xref": ["DOID:3086", "ICD10CM:K06.1", "ICD9:523.8", "MEDGEN:87712", "MESH:D019214", "SCTID:54711002", "UMLS:C0376480"]}
{"category": ["biolink:Disease"], "description": "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.", "id": "MONDO:0002508", "name": "Gingivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gingiva inflammation", "gingivitis", "inflammation of gingiva"], "xref": ["DOID:3087", "ICD9:523.0", "ICD9:523.1", "ICD9:523.10", "MEDGEN:4895", "MESH:D005891", "NCIT:C34636", "SCTID:66383009", "UMLS:C0017574"]}
{"category": ["biolink:Disease"], "description": "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.", "id": "MONDO:0002509", "name": "Non-specific granulomatous orchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3089", "MEDGEN:98504", "NCIT:C27162", "SCTID:50390006", "UMLS:C0436545"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002511", "name": "Stenosis of lacrimal sac", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3096", "ICD10CM:H04.57", "ICD9:375.54", "MEDGEN:509871", "SCTID:11772001", "UMLS:C0155246"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.", "id": "MONDO:0002512", "name": "Papillary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma, papillary, malignant", "papillary adenocarcinoma", "papillary adenocarcinoma (morphologic abnormality)", "papillary adenocarcinoma NOS (morphologic abnormality)"], "xref": ["DOID:3112", "ICDO:8260/3", "MEDGEN:123", "MESH:D000231", "NCIT:C2853", "UMLS:C0001420"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.", "id": "MONDO:0002513", "name": "Kidney benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign kidney neoplasm", "benign kidney tumor", "benign kidney tumour", "benign neoplasm of kidney", "benign neoplasm of the kidney", "benign renal neoplasm", "benign renal tumor", "benign renal tumour", "benign tumor of kidney", "benign tumor of the kidney", "benign tumour of kidney", "benign tumour of the kidney", "kidney benign neoplasm", "renal and ureteral tumour", "renal neoplasm, benign", "renal tumor, benign"], "xref": ["DOID:3116", "ICD10CM:D30.0", "ICD9:223.0", "MEDGEN:96926", "NCIT:C4778", "SCTID:92165001", "UMLS:C0496892"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.", "id": "MONDO:0002514", "name": "Hepatobiliary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hepatic and biliary neoplasms", "hepatic and biliary tumors", "hepatic and biliary tumours", "hepatic, biliary, and gallbladder neoplasms", "hepato-biliary neoplasm", "hepato-biliary tumor", "hepato-biliary tumour", "hepatobiliary neoplasm", "hepatobiliary system neoplasm", "hepatobiliary system neoplasm (disease)", "hepatobiliary system tumor", "hepatobiliary system tumour", "hepatobiliary tumor", "hepatobiliary tumors", "hepatobiliary tumour", "hepatobiliary tumours", "liver and biliary neoplasm", "liver and biliary system neoplasm", "neoplasm of hepatobiliary system", "tumor of hepatobiliary system", "tumour of hepatobiliary system"], "xref": ["DOID:0080355", "EFO:0008550", "MEDGEN:208891", "NCIT:C8614", "UMLS:C0854196"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.", "id": "MONDO:0002515", "name": "Hepatobiliary disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of hepatobiliary system", "disease or disorder of hepatobiliary system", "disorder of hepatobiliary system", "hepatobiliary disorder", "hepatobiliary system disease", "hepatobiliary system disease or disorder", "liver and biliary disease", "liver and biliary disorder", "liver and biliary system disorder"], "xref": ["DOID:3118", "EFO:0010284", "MEDGEN:82758", "NCIT:C3959", "UMLS:C0267792"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving any part of the digestive system.", "id": "MONDO:0002516", "name": "Digestive system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of digestive system", "digestive system cancer", "gastrointestinal system cancer", "malignant digestive system neoplasm", "malignant gastrointestinal neoplasm", "malignant gastrointestinal system neoplasm", "malignant neoplasm of digestive system"], "xref": ["DOID:3119", "ICD10CM:C15-C26", "ICD9:239.0", "MEDGEN:148231", "NCIT:C4890", "UMLS:C0751075"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002517", "name": "Tenosynovitis of foot and ankle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:312", "ICD9:727.06", "MEDGEN:1843483", "UMLS:C0158331"]}
{"category": ["biolink:Disease"], "description": "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.", "id": "MONDO:0002518", "name": "Gallbladder papillary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gall bladder papillary epithelial neoplasm", "gallbladder papillary neoplasm", "gallbladder papillomatosis", "intracystic papillary neoplasm"], "xref": ["DOID:3120", "MEDGEN:234293", "NCIT:C7130", "UMLS:C1333754"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.", "id": "MONDO:0002519", "name": "Anus disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anal disorder", "anus disease", "anus disease or disorder", "disease of anus", "disease or disorder of anus", "disorder of anal region", "disorder of anus"], "xref": ["DOID:3128", "EFO:0009660", "MEDGEN:359", "MESH:D001004", "NCIT:C26695", "SCTID:32110003", "UMLS:C0003462"]}
{"category": ["biolink:Disease"], "description": "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.", "id": "MONDO:0002520", "name": "Hepatic porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ALAD deficiency", "Delta-aminolevulinate dehydratase deficiency", "hepatic porphyria", "liver porphyria", "porphobilinogen synthase deficiency", "porphyria of liver"], "xref": ["DOID:3133", "GARD:0019255", "GTR:AN0932921", "MEDGEN:58119", "MESH:D017094", "Orphanet:659694", "SCTID:55056006", "UMLS:C0162533"]}
{"category": ["biolink:Disease"], "description": "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.", "id": "MONDO:0002522", "name": "Tenosynovial giant cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibrous histiocytoma of tendon sheath", "giant cell neoplasm of Tenosynovium", "giant cell neoplasm of tendon sheath", "giant cell neoplasm of the Tenosynovium", "giant cell tumor of Tenosynovium", "giant cell tumor of tendon sheath", "giant cell tumor of the Tenosynovium", "giant cell tumour of the Tenosynovium", "tendon sheath giant cell neoplasm", "tendon sheath giant cell tumor", "tendon sheath giant cell tumour", "tenosynovial giant cell neoplasm", "tenosynovial giant cell tumor"], "xref": ["DOID:314", "EFO:1000562", "ICD9:727.89", "ICDO:9252/0", "MEDGEN:232927", "NCIT:C3402", "SCTID:310605004", "UMLS:C1318543"]}
{"category": ["biolink:Disease"], "description": "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).", "id": "MONDO:0002523", "name": "Cutaneous mucinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mucinosis", "mucinosis affecting the skin"], "xref": ["DOID:3141", "ICD9:701.8", "MEDGEN:56520", "MESH:D017520", "SCTID:402721001", "UMLS:C0162855", "icd11.foundation:2018255084"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.", "id": "MONDO:0002525", "name": "Inherited lipid metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:3146", "GARD:0021314", "ICD9:272.8", "ICD9:272.9", "MEDGEN:57587", "MedDRA:10061227", "NCIT:C97092", "Orphanet:309005", "SCTID:267431006", "SCTID:402788005", "UMLS:C0154251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002526", "name": "Dermal unilateral segmental cavernous angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3148", "GARD:0023154", "MEDGEN:634347", "UMLS:C0474966"]}
{"category": ["biolink:Disease"], "description": "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.", "id": "MONDO:0002527", "name": "Keratoacanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3149", "ICDO:8071/1", "MEDGEN:5954", "MESH:D007636", "NCIT:C3146", "SCTID:254662007", "UMLS:C0022572", "icd11.foundation:516478127"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.", "id": "MONDO:0002528", "name": "Synovium neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of synovial membrane of synovial joint", "neoplasm of synovium", "neoplasm of the synovium", "synovial membrane of synovial joint neoplasm", "synovial membrane of synovial joint neoplasm (disease)", "synovial membrane of synovial joint tumor", "synovial membrane of synovial joint tumour", "synovial neoplasm", "synovial neoplasm (morphologic abnormality)", "synovial neoplasm NOS (morphologic abnormality)", "synovial tumor", "synovial tumour", "tumor of synovial membrane of synovial joint", "tumor of synovium", "tumor of the synovium", "tumour of synovial membrane of synovial joint", "tumour of synovium", "tumour of the synovium"], "xref": ["DOID:315", "MEDGEN:99197", "NCIT:C8964", "UMLS:C0476203"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.", "id": "MONDO:0002529", "name": "Skin squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cutaneous squamous cell carcinoma", "epidermoid carcinoma of skin", "epidermoid carcinoma of the skin", "epidermoid skin carcinoma", "skin squamous cell cancer", "skin squamous cell carcinoma", "squamous cell carcinoma - skin", "squamous cell carcinoma of skin", "squamous cell carcinoma of the skin", "squamous cell skin carcinoma", "zone of skin squamous cell carcinoma"], "xref": ["DOID:3151", "MEDGEN:107512", "NCIT:C4819", "ONCOTREE:CSCC", "SCTID:254651007", "UMLS:C0553723", "icd11.foundation:1448983042"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.", "id": "MONDO:0002531", "name": "Skin neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of skin", "neoplasm of the skin", "neoplasm of zone of skin", "skin neoplasm", "skin neoplasms", "skin tumor", "skin tumour", "tumor of skin", "tumor of the skin", "tumor of zone of skin", "tumour of skin", "tumour of the skin", "tumour of zone of skin", "zone of skin neoplasm", "zone of skin neoplasm (disease)", "zone of skin tumor", "zone of skin tumour"], "xref": ["DOID:3165", "EFO:0004198", "ICD9:239.2", "MEDGEN:19993", "MESH:D012878", "NCIT:C3372", "ONCOTREE:SKIN", "SCTID:126488004", "UMLS:C0037286"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.", "id": "MONDO:0002532", "name": "Squamous cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidermoid cell neoplasm", "epidermoid cell tumor", "epidermoid cell tumour", "squamous cell neoplasm", "squamous cell tumor", "squamous cell tumor (qualifier value)", "squamous cell tumour", "squamous cell tumour (qualifier value)"], "xref": ["DOID:3168", "MEDGEN:60219", "MESH:D018307", "NCIT:C3792", "UMLS:C0206720"]}
{"category": ["biolink:Disease"], "description": "An adenoma characterized by the presence of papillary epithelial patterns.", "id": "MONDO:0002533", "name": "Papillary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma, papillary, benign", "papillary adenoma", "papillary adenoma NOS (morphologic abnormality)"], "xref": ["DOID:3172", "MEDGEN:59999", "NCIT:C79951", "UMLS:C0205650"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.", "id": "MONDO:0002534", "name": "Fallopian tube papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube papilloma", "fallopian tube serous papilloma"], "xref": ["DOID:3173", "GARD:0023155", "MEDGEN:275874", "NCIT:C40112", "UMLS:C1517123"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.", "id": "MONDO:0002535", "name": "Verrucous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3177", "ICDO:8051/0", "MEDGEN:83114", "NCIT:C4101", "UMLS:C0334243"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.", "id": "MONDO:0002536", "name": "Skin papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basosquamous tumor, benign", "cutaneous papilloma", "papilloma of skin", "papilloma of the skin", "skin papilloma", "zone of skin papilloma"], "xref": ["DOID:3178", "MEDGEN:91127", "NCIT:C4614", "SCTID:255184001", "UMLS:C0347390"]}
{"category": ["biolink:Disease"], "description": "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.", "id": "MONDO:0002537", "name": "Inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inverted papilloma"], "xref": ["DOID:3179", "ICD9:212.0", "MEDGEN:61668", "MESH:D018308", "NCIT:C3793", "SCTID:104081000119103", "UMLS:C0206721"]}
{"category": ["biolink:Disease"], "description": "An oligodendroglioma that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0002540", "name": "Childhood oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["oligodendroglioma of childhood", "paediatric oligodendroglioma", "pediatric oligodendroglioma"], "xref": ["DOID:3183", "GARD:0023156", "MEDGEN:76116", "NANDO:2200089", "NCIT:C4045", "UMLS:C0280475"]}
{"category": ["biolink:Disease"], "description": "A oligodendroglioma that involves the spinal cord.", "id": "MONDO:0002541", "name": "Spinal cord oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["oligodendroglioma of spinal cord", "spinal cord oligodendroglioma", "well differentiated spinal cord oligodendroglial tumor", "well differentiated spinal cord oligodendroglial tumour", "well differentiated spinal cord oligodendroglioma"], "xref": ["DOID:3184", "GARD:0023157", "MEDGEN:138055", "NCIT:C4535", "SCTID:254950006", "UMLS:C0346295"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.", "id": "MONDO:0002542", "name": "Spinal cord glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glial neoplasm spinal cord", "glial tumor of spinal cord", "glial tumour of spinal cord", "malignant glioma of spinal cord", "spinal cord glial neoplasm", "spinal cord glial tumor", "spinal cord glial tumour", "spinal cord glioma", "spinal cord malignant glioma"], "xref": ["DOID:3185", "GARD:0023158", "MEDGEN:423646", "NCIT:C4534", "SCTID:254946004", "UMLS:C2937245"]}
{"category": ["biolink:Disease"], "description": "An oligodendroglioma occurring during adulthood.", "id": "MONDO:0002543", "name": "Adult oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult oligodendroglioma", "grade II adult oligodendroglial tumor", "grade II adult oligodendroglial tumour", "oligodendroglioma of adults"], "xref": ["DOID:3186", "GARD:0023159", "MEDGEN:75924", "NANDO:2200089", "NCIT:C4014", "UMLS:C0279070"]}
{"category": ["biolink:Disease"], "description": "A oligodendroglioma that involves the brain.", "id": "MONDO:0002544", "name": "Brain oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["brain oligodendroglioma", "oligodendroglioma of brain", "oligodendroglioma of the brain"], "xref": ["DOID:3187", "GARD:0023160", "MEDGEN:91095", "NCIT:C9377", "SCTID:254940005", "UMLS:C0346286"]}
{"category": ["biolink:Disease"], "description": "A disease involving the spinal cord.", "id": "MONDO:0002545", "name": "Spinal cord disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of spinal cord", "disease of the spinal cord", "disease or disorder of spinal cord", "disorder of spinal cord", "spinal cord disease", "spinal cord disease or disorder", "spinal cord disorder"], "xref": ["DOID:319", "EFO:0009488", "ICD9:336.8", "ICD9:336.9", "MEDGEN:11550", "MESH:D013118", "NCIT:C97110", "SCTID:48522003", "UMLS:C0037928"]}
{"category": ["biolink:Disease"], "description": "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.", "id": "MONDO:0002546", "name": "Schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["benign neurilemmoma", "benign schwannoma", "neurilemmoma", "neurinoma", "peripheral fibroblastoma", "schwannoma", "schwannoma (WHO grade I)", "schwannoma, benign"], "xref": ["DOID:3192", "DOID:955", "EFO:0000693", "GARD:0004767", "ICD9:215.9", "ICDO:9560/0", "MEDGEN:45053", "MedDRA:10029234", "MedDRA:10029235", "NANDO:2200103", "NCIT:C3269", "ONCOTREE:SCHW", "Orphanet:252164", "SCTID:404022001", "UMLS:C0027809", "icd11.foundation:378766741"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.", "id": "MONDO:0002547", "name": "Nerve sheath neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of nerve sheath", "neoplasm of the nerve sheath", "nerve sheath neoplasm", "nerve sheath tumor", "tumor of nerve sheath", "tumour of nerve sheath"], "xref": ["DOID:3193", "GARD:0023161", "MEDGEN:64639", "MESH:D018317", "NCIT:C4972", "ONCOTREE:NST", "UMLS:C0206727"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.", "id": "MONDO:0002548", "name": "Cellular schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cellular neurilemmoma", "cellular neurinoma", "cellular schwannoma"], "xref": ["DOID:3196", "GARD:0023162", "ICD9:215.9", "MEDGEN:98124", "NCIT:C4724", "ONCOTREE:CSCHW", "SCTID:404026003", "UMLS:C0431124"]}
{"category": ["biolink:Disease"], "description": "A schwannoma that involves the hypoglossal nerve.", "id": "MONDO:0002549", "name": "Schwannoma of twelfth cranial nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypoglossal nerve neurilemmoma", "hypoglossal nerve schwannoma", "hypoglossal neurilemmoma", "hypoglossal schwannoma", "neurilemmoma of hypoglossal nerve", "neurilemmoma of the hypoglossal nerve", "neurilemmoma of the twelfth cranial nerve", "neurilemmoma of twelfth cranial nerve", "schwannoma of hypoglossal nerve", "schwannoma of the hypoglossal nerve", "schwannoma of the twelfth cranial nerve", "schwannoma of twelfth cranial nerve", "twelfth cranial nerve neurilemmoma", "twelfth cranial nerve schwannoma"], "xref": ["DOID:3197", "GARD:0023163", "MEDGEN:235581", "NCIT:C5434", "UMLS:C1335928"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a hypoglossal nerve.", "id": "MONDO:0002550", "name": "Hypoglossal nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["XIIth cranial nerve neoplasms", "XIIth cranial nerve tumors", "XIIth cranial nerve tumours", "hypoglossal nerve neoplasm", "hypoglossal nerve neoplasm (disease)", "hypoglossal nerve neoplasms", "hypoglossal nerve tumor", "hypoglossal nerve tumors", "hypoglossal nerve tumour", "hypoglossal nerve tumours", "neoplasm of hypoglossal nerve", "neoplasm of the hypoglossal nerve", "neoplasm of the twelfth cranial nerve", "neoplasm of twelfth cranial nerve", "tumor of hypoglossal nerve", "tumor of the hypoglossal nerve", "tumor of the twelfth cranial nerve", "tumor of twelfth cranial nerve", "tumour of hypoglossal nerve", "tumour of the hypoglossal nerve", "tumour of the twelfth cranial nerve", "tumour of twelfth cranial nerve", "twelfth cranial nerve neoplasm", "twelfth cranial nerve neoplasms", "twelfth cranial nerve tumor", "twelfth cranial nerve tumors", "twelfth cranial nerve tumour", "twelfth cranial nerve tumours"], "xref": ["DOID:3198", "ICD9:239.7", "MEDGEN:220392", "NCIT:C5830", "SCTID:126978008", "UMLS:C1263903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002551", "name": "C-p angle neurinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebellar Pontine angle neurinoma", "cerebellopontine angle neurinoma", "cerebellopontine angle schwannoma"], "xref": ["DOID:3199", "MEDGEN:232046", "NCIT:C5413", "UMLS:C1332905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002552", "name": "Vascular myelopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vascular myelopathies"], "xref": ["DOID:320", "ICD10CM:G95.1", "ICD9:336.1", "MEDGEN:509629", "SCTID:29774004", "UMLS:C0154685"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.", "id": "MONDO:0002553", "name": "Cerebellopontine angle tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["C-P angle neoplasm", "C-P angle tumor", "C-P angle tumour", "cerebellar Pontine angle neoplasm", "cerebellar Pontine angle tumor", "cerebellar Pontine angle tumour", "cerebellopontine angle neoplasm", "cerebellopontine angle neoplasm (disease)", "cerebellopontine angle tumor", "neoplasm of C-P angle", "neoplasm of cerebellar Pontine angle", "neoplasm of cerebellopontine angle", "neoplasm of the C-P angle", "neoplasm of the cerebellar Pontine angle", "neoplasm of the cerebellopontine angle", "tumor of C-P angle", "tumor of cerebellar Pontine angle", "tumor of cerebellopontine angle", "tumor of the C-P angle", "tumor of the cerebellar Pontine angle", "tumor of the cerebellopontine angle", "tumour of C-P angle", "tumour of cerebellar Pontine angle", "tumour of cerebellopontine angle", "tumour of the C-P angle", "tumour of the cerebellar Pontine angle", "tumour of the cerebellopontine angle"], "xref": ["DOID:3200", "MEDGEN:99181", "NCIT:C5414", "SCTID:126947009", "UMLS:C0474740"]}
{"category": ["biolink:Disease"], "description": "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.", "id": "MONDO:0002554", "name": "Sympathetic neurilemmoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sympathetic schwannoma"], "xref": ["DOID:3201", "GARD:0023164", "MEDGEN:236964", "NCIT:C5421", "UMLS:C1336543"]}
{"category": ["biolink:Disease"], "description": "A schwannoma that involves the trigeminal nerve.", "id": "MONDO:0002555", "name": "Trigeminal schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fifth cranial nerve neurilemmoma", "fifth cranial nerve schwannoma", "neurilemmoma of fifth cranial nerve", "neurilemmoma of the fifth cranial nerve", "neurilemmoma of the trigeminal nerve", "neurilemmoma of trigeminal nerve", "schwannoma of fifth cranial nerve", "schwannoma of the fifth cranial nerve", "schwannoma of the trigeminal nerve", "schwannoma of trigeminal nerve", "trigeminal nerve schwannoma", "trigeminal neurilemmoma", "trigeminal schwannoma"], "xref": ["DOID:3202", "GARD:0023165", "ICD9:215.9", "MEDGEN:83890", "NCIT:C4655", "SCTID:277185000", "UMLS:C0349582"]}
{"category": ["biolink:Disease"], "description": "The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.", "id": "MONDO:0002556", "name": "Microcystic/reticular schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["microcystic/reticular schwannoma"], "xref": ["GARD:0023166", "MEDGEN:882329", "NCIT:C5321", "UMLS:C4054526"]}
{"category": ["biolink:Disease"], "description": "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.", "id": "MONDO:0002558", "name": "Melanotic neurilemmoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["melanocytic neurilemmoma", "melanocytic schwannoma", "melanotic neurinoma", "melanotic schwannoma", "melanotic schwannoma (morphologic abnormality)", "pigmented neurilemmoma", "pigmented schwannoma"], "xref": ["DOID:3205", "GARD:0023167", "ICD9:215.8", "MEDGEN:266292", "NCIT:C6970", "ONCOTREE:MSCHW", "SCTID:404024000", "UMLS:C1306247"]}
{"category": ["biolink:Disease"], "description": "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.", "id": "MONDO:0002559", "name": "Plexiform schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["plexiform neurilemmoma", "plexiform neurinoma", "plexiform schwannoma", "plexiform schwannoma (morphologic abnormality)"], "xref": ["DOID:3206", "GARD:0023168", "ICD9:215.9", "MEDGEN:277972", "NCIT:C6969", "SCTID:404025004", "UMLS:C1370659"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.", "id": "MONDO:0002561", "name": "Lysosomal storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["disorder of lysosomal enzymes", "lysosomal disease", "lysosomal disorder", "lysosomal storage disorder", "lysosome disease", "lysosome disorder"], "xref": ["DOID:3211", "GARD:0018884", "MEDGEN:43098", "MESH:D016464", "NANDO:1200055", "NANDO:2100165", "NCIT:C61250", "Orphanet:68366", "SCTID:23585005", "SCTID:28821000119102", "UMLS:C0085078", "icd11.foundation:656131403"]}
{"category": ["biolink:Disease"], "description": "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.", "id": "MONDO:0002562", "name": "Demyelinating disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["demyelinating disorder"], "xref": ["DOID:3213", "MEDGEN:4189", "MESH:D003711", "NCIT:C34527", "UMLS:C0011303"]}
{"category": ["biolink:Disease"], "description": "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.", "id": "MONDO:0002563", "name": "Jejunal somatostatinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Delta cell tumor of jejunum", "Delta cell tumor of the jejunum", "Delta cell tumour of jejunum", "Delta cell tumour of the jejunum", "Somatosatinoma of jejunum", "Somatosatinoma of the jejunum", "jejunal delta cell somatostatin producing tumour", "jejunal somatostatin producing tumor", "jejunal somatostatin producing tumour", "jejunal somatostatin-producing NET", "jejunal somatostatin-producing neuroendocrine tumor", "jejunal somatostatin-producing neuroendocrine tumour"], "xref": ["DOID:3216", "GARD:0023169", "MEDGEN:233585", "NCIT:C5787", "UMLS:C1334297"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.", "id": "MONDO:0002564", "name": "Jejunal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["jejunal tumor", "jejunal tumour", "jejunum neoplasm", "jejunum neoplasm (disease)", "jejunum tumor", "jejunum tumour", "neoplasm of jejunum", "neoplasm of the jejunum", "tumor of jejunum", "tumor of the jejunum", "tumour of jejunum", "tumour of the jejunum"], "xref": ["DOID:3218", "MEDGEN:7187", "MESH:D007580", "NCIT:C8401", "SCTID:126834003", "UMLS:C0022374"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.", "id": "MONDO:0002565", "name": "Myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of spinal cord", "spinal cord inflammation"], "xref": ["DOID:322", "EFO:1001472", "ICD9:323.9", "MEDGEN:10230", "MESH:D009187", "NCIT:C26832", "SCTID:41370002", "UMLS:C0026975", "icd11.foundation:1993728609"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.", "id": "MONDO:0002567", "name": "Tracheal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of trachea", "disease or disorder of trachea", "disorder of trachea", "trachea disease", "trachea disease or disorder", "tracheal disorder"], "xref": ["DOID:3225", "MEDGEN:892789", "MESH:D014133", "NCIT:C35079", "SCTID:47125007", "UMLS:C4025678"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the lumen of the trachea.", "id": "MONDO:0002568", "name": "Tracheal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3227", "ICD9:519.19", "MEDGEN:21227", "MESH:D014135", "NANDO:2200194", "NCIT:C78646", "SCTID:11296007", "UMLS:C0040583"]}
{"category": ["biolink:Disease"], "description": "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.", "id": "MONDO:0002569", "name": "Gastric dilatation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3229", "MEDGEN:11602", "MESH:D013271", "UMLS:C0038353"]}
{"category": ["biolink:Disease"], "description": "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.", "id": "MONDO:0002570", "name": "High pressure neurological syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3230", "MEDGEN:5553", "MESH:D006610", "UMLS:C0019537"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.", "id": "MONDO:0002571", "name": "Primary central nervous system lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNS lymphoma", "PCNSL", "central nervous system lymphoma", "lymphoma of central nervous system", "malignant lymphomas of CNS", "malignant lymphomas of the CNS", "microglioma", "primary CNS lymphoma", "primary brain lymphoma", "primary central nervous system lymphoma"], "xref": ["DOID:3234", "EFO:1000157", "GARD:0009318", "ICD9:200.5", "MEDGEN:79187", "MedDRA:10036685", "NCIT:C9301", "NORD:2002", "ONCOTREE:PCNSL", "Orphanet:46135", "SCTID:307649006", "UMLS:C0280803", "icd11.foundation:1133193893"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lungs due to the inhalation of solid or liquid material.", "id": "MONDO:0002572", "name": "Aspiration pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3240", "EFO:1001399", "MEDGEN:740734", "NCIT:C34932", "SCTID:155597006", "UMLS:C1761609"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.", "id": "MONDO:0002574", "name": "Prostate embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["embryonal rhabdomyosarcoma (disease) of prostate gland", "embryonal rhabdomyosarcoma of prostate", "embryonal rhabdomyosarcoma of the prostate", "prostate embryonal rhabdomyosarcoma", "prostate gland embryonal rhabdomyosarcoma (disease)"], "xref": ["DOID:3251", "GARD:0023170", "MEDGEN:233873", "NCIT:C5525", "UMLS:C1335508"]}
{"category": ["biolink:Disease"], "description": "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.", "id": "MONDO:0002576", "name": "Embryonal extrahepatic bile duct rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["embryonal extrahepatic bile duct rhabdomyosarcoma", "embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct", "embryonal rhabdomyosarcoma of extrahepatic bile duct", "embryonal rhabdomyosarcoma of the extrahepatic bile duct", "extrahepatic bile duct embryonal rhabdomyosarcoma", "extrahepatic bile duct embryonal rhabdomyosarcoma (disease)"], "xref": ["DOID:3253", "GARD:0023171", "MEDGEN:234244", "NCIT:C5847", "UMLS:C1333505"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.", "id": "MONDO:0002577", "name": "Extrahepatic bile duct rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct rhabdomyosarcoma (disease)", "extrahepatic bile duct rhabdomyosarcoma", "extrahepatic bile duct rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of extrahepatic bile duct", "rhabdomyosarcoma of extrahepatic bile duct", "rhabdomyosarcoma of the extrahepatic bile duct"], "xref": ["DOID:3254", "GARD:0023172", "MEDGEN:473530", "NCIT:C5860", "UMLS:C2064434"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.", "id": "MONDO:0002578", "name": "Botryoid rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["botryoid sarcoma", "botryoid sarcoma (morphologic abnormality)", "botryoid-type embryonal rhabdomyosarcoma", "sarcoma botryoides"], "xref": ["DOID:3255", "GARD:0009398", "ICD9:171.9", "MEDGEN:727079", "NCIT:C9150", "SCTID:404052009", "UMLS:C1306574"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.", "id": "MONDO:0002579", "name": "Orbit embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["embryonal rhabdomyosarcoma of orbit", "embryonal rhabdomyosarcoma of the orbit"], "xref": ["DOID:3258", "GARD:0023173", "MEDGEN:233267", "NCIT:C6246", "UMLS:C1335127"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.", "id": "MONDO:0002580", "name": "Orbit rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["orbital region rhabdomyosarcoma", "orbital region rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of orbital region", "rhabdomyosarcoma of orbit", "rhabdomyosarcoma of the orbit"], "xref": ["DOID:3259", "GARD:0023174", "MEDGEN:83419", "MESH:C537605", "NCIT:C4543", "SCTID:254994000", "UMLS:C0346347"]}
{"category": ["biolink:Disease"], "description": "An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.", "id": "MONDO:0002581", "name": "Spindle cell rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spindle cell rhabdomyosarcoma (morphologic abnormality)"], "xref": ["DOID:3260", "GARD:0023175", "ICD9:171.9", "ICDO:8912/3", "MEDGEN:224766", "NCIT:C6519", "ONCOTREE:SCRMS", "SCTID:404055006", "UMLS:C1266134"]}
{"category": ["biolink:Disease"], "description": "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.", "id": "MONDO:0002582", "name": "Subacute leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3264", "GARD:0023176", "ICD9:208.2", "ICD9:208.20", "MEDGEN:509481", "SCTID:302855005", "UMLS:C0153924"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.", "id": "MONDO:0002583", "name": "Mucinous ovarian cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign mucinous cystadenoma of ovary", "benign mucinous cystadenoma of the ovary", "benign ovarian mucinous cystadenoma", "mucinous cystadenoma of ovary", "mucinous cystadenoma of the ovary", "ovarian mucinous cystadenoma", "ovary mucinous cystadenoma"], "xref": ["DOID:3267", "MEDGEN:91088", "NCIT:C4512", "SCTID:119422004", "UMLS:C0346172"]}
{"category": ["biolink:Disease"], "description": "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.", "id": "MONDO:0002585", "name": "Breast fibrocystic change, proliferative type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign proliferative breast disease", "breast fibrocystic change, proliferative type", "proliferative breast disease", "proliferative breast lesion", "proliferative type fibrocystic change of breast", "proliferative type fibrocystic change of the breast"], "xref": ["DOID:3274", "MEDGEN:231967", "NCIT:C6940", "UMLS:C1332629"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.", "id": "MONDO:0002586", "name": "Thymus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus cancer", "cancer of Thymus", "cancer of the Thymus", "cancer of thymus", "malignant Thymus neoplasm", "malignant Thymus tumor", "malignant Thymus tumour", "malignant neoplasm of Thymus", "malignant neoplasm of the Thymus", "malignant neoplasm of thymus", "malignant thymus neoplasm", "malignant tumor of Thymus", "malignant tumor of the Thymus", "malignant tumour of Thymus", "malignant tumour of the Thymus", "thymus cancer"], "xref": ["DOID:3277", "GARD:0023177", "ICD10CM:C37", "ICD9:164.0", "MEDGEN:155883", "NCIT:C4962", "SCTID:363434003", "UMLS:C0751552", "icd11.foundation:1718833206"]}
{"category": ["biolink:Disease"], "description": "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.", "id": "MONDO:0002587", "name": "Encapsulated thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["encapsulated thymoma"], "xref": ["DOID:3278", "GARD:0023178", "MEDGEN:232452", "NCIT:C7386", "UMLS:C1333383"]}
{"category": ["biolink:Disease"], "description": "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.", "id": "MONDO:0002588", "name": "Thymoma type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["medullary thymoma", "primary thymic epithelial neoplasm type A", "primary thymic epithelial tumor type A", "primary thymic epithelial tumour type A", "spindle cell thymoma", "thymoma type A"], "xref": ["DOID:3279", "GARD:0020892", "ICDO:8581/1", "MEDGEN:266099", "NCIT:C6454", "Orphanet:263310", "UMLS:C1266091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002590", "name": "Combined thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3281", "GARD:0023179", "MEDGEN:317530", "NCIT:C45722", "UMLS:C1707449"]}
{"category": ["biolink:Disease"], "description": "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.", "id": "MONDO:0002592", "name": "Invasive malignant thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["invasive malignant thymoma", "malignant thymoma, invasive", "thymoma malignant invasive"], "xref": ["DOID:3283", "GARD:0023180", "MEDGEN:78892", "NCIT:C7904", "UMLS:C0278846"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.", "id": "MONDO:0002594", "name": "Monkeypox", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Monkeypox virus infection"], "xref": ["DOID:3292", "ICD10CM:B04", "ICD10WHO:B04", "ICD9:059.01", "ICD9:136.8", "MEDGEN:124442", "MESH:D045908", "NCIT:C128421", "SCTID:359814004", "UMLS:C0276180"]}
{"category": ["biolink:Disease"], "description": "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.", "id": "MONDO:0002595", "name": "Vaccinia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3298", "ICD9:999.0", "MEDGEN:52964", "MESH:D014615", "SCTID:111852003", "UMLS:C0042214", "icd11.foundation:1275065853"]}
{"category": ["biolink:Disease"], "description": "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.", "id": "MONDO:0002597", "name": "Notochordal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of notochord", "malignant neoplasm of notochord", "malignant notochord neoplasm", "neoplasm of notochord", "notochord cancer", "notochord neoplasm", "notochord tumor", "notochord tumour", "notochordal neoplasm", "notochordal tumor", "tumor of notochord", "tumour of notochord"], "xref": ["DOID:3303", "GARD:0023181", "MEDGEN:233252", "NCIT:C7063", "UMLS:C1335069"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.", "id": "MONDO:0002598", "name": "Germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["germinoma", "germinoma (disease)"], "xref": ["DOID:3304", "GARD:0023182", "HP:0100620", "ICDO:9064/3", "MEDGEN:64626", "MESH:D018237", "NCIT:C3753", "ONCOTREE:GMN", "UMLS:C0206660"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.", "id": "MONDO:0002599", "name": "Teratocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed embryonal carcinoma and teratoma", "teratocarcinoma", "teratocarcinoma (morphologic abnormality)"], "xref": ["DOID:3305", "GARD:0023183", "ICDO:9081/3", "MEDGEN:104913", "MESH:D018243", "NCIT:C3756", "UMLS:C0206664"]}
{"category": ["biolink:Disease"], "description": "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.", "id": "MONDO:0002601", "name": "Teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["teratoma"], "xref": ["DOID:3307", "GARD:0023184", "ICDO:9080/1", "MEDGEN:21097", "MESH:D013724", "NCIT:C3403", "ONCOTREE:TT", "SCTID:36591000119102", "UMLS:C0039538"]}
{"category": ["biolink:Disease"], "description": "A disease involving the central nervous system.", "id": "MONDO:0002602", "name": "Central nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["CNS disorder", "central nervous disease", "central nervous system disease", "central nervous system disease or disorder", "central nervous system disorder", "disease of central nervous system", "disease of the central nervous system", "disease or disorder of central nervous system", "disorder of central nervous system"], "xref": ["DOID:331", "EFO:0009386", "MEDGEN:892343", "MESH:D002493", "NCIT:C2934", "SCTID:23853001", "UMLS:C4021765"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.", "id": "MONDO:0002603", "name": "Angiomyolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["angiomyolipoma (morphologic abnormality)"], "xref": ["DOID:3314", "ICDO:8860/0", "MEDGEN:64622", "MESH:D018207", "NCIT:C3734", "UMLS:C0206633"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.", "id": "MONDO:0002604", "name": "Pericytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pericytic neoplasm", "Pericytic tumor", "Pericytic tumour", "perivascular neoplasm", "perivascular tumor", "perivascular tumour"], "xref": ["DOID:3316", "MEDGEN:235473", "NCIT:C6528", "UMLS:C1335392"]}
{"category": ["biolink:Disease"], "description": "An angiomyolipoma arising from the liver.", "id": "MONDO:0002605", "name": "Hepatic angiomyolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["liver PEComa", "liver angiomyolipoma"], "xref": ["DOID:3317", "GARD:0023185", "MEDGEN:272705", "NCIT:C27485", "UMLS:C1333962"]}
{"category": ["biolink:Disease"], "description": "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.", "id": "MONDO:0002606", "name": "Epithelioid type angiomyolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:3318", "GARD:0023186", "MEDGEN:1386340", "NCIT:C38151", "UMLS:C4518194"]}
{"category": ["biolink:Disease"], "description": "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.", "id": "MONDO:0002610", "name": "Purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["purpura", "purpura (disease)"], "xref": ["DOID:3326", "HP:0000979", "MEDGEN:19584", "MESH:D011693", "SCTID:387778001", "UMLS:C0034150"]}
{"category": ["biolink:Disease"], "description": "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)", "id": "MONDO:0002612", "name": "Frontal lobe epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epilepsy of frontal lobe", "frontal lobe epilepsy"], "xref": ["DOID:3331", "MEDGEN:39074", "MESH:D017034", "SCTID:230394006", "UMLS:C0085541"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.", "id": "MONDO:0002613", "name": "Histrionic personality disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["histrionic personality disorder", "histrionic personality disorder (disease)"], "xref": ["DOID:334", "HP:0012077", "ICD10CM:F60.4", "ICD9:301.5", "ICD9:301.50", "ICD9:301.59", "MEDGEN:9276", "MESH:D006677", "NCIT:C92634", "SCTID:55341008", "UMLS:C0019681", "icd11.foundation:953661315"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the bone.", "id": "MONDO:0002614", "name": "Bone inflammation disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3342", "MEDGEN:10492", "MESH:D010000", "SCTID:274144001", "UMLS:C0029400"]}
{"category": ["biolink:Disease"], "description": "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.", "id": "MONDO:0002615", "name": "Xanthomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["xanthomatosis", "xanthomatosis (disease)"], "xref": ["DOID:3345", "GARD:0023188", "HP:0000991", "MEDGEN:21939", "MESH:D014973", "SCTID:63103006", "UMLS:C0043325"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.", "id": "MONDO:0002616", "name": "Mesenchymal cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign miscellaneous mesenchymal tumour", "mesenchymal cell neoplasm", "mesenchymal cell tumor", "mesenchymal cell tumour", "mesenchymal neoplasm", "mesenchymal tumor", "mesenchymal tumour"], "xref": ["DOID:3350", "MEDGEN:277359", "NCIT:C7059", "UMLS:C1334699"]}
{"category": ["biolink:Disease"], "description": "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.", "id": "MONDO:0002617", "name": "Bone angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of bone tissue", "bone Hemangioendothelial sarcoma", "bone angioendothelial sarcoma", "bone angiosarcoma", "bone hemangiosarcoma", "bone tissue angiosarcoma (disease)", "osseous angioendothelial sarcoma", "osseous angiosarcoma", "osseous hemangiosarcoma"], "xref": ["DOID:3351", "GARD:0023189", "MEDGEN:231448", "NCIT:C6479", "UMLS:C1332574"]}
{"category": ["biolink:Disease"], "description": "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.", "id": "MONDO:0002618", "name": "Undifferentiated high grade pleomorphic sarcoma of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant bone fibrous histiocytoma", "malignant fibrous histiocytoma of bone", "malignant fibrous histiocytoma of the bone", "undifferentiated high grade pleomorphic sarcoma", "undifferentiated high grade pleomorphic sarcoma of bone", "undifferentiated high-grade pleomorphic sarcoma"], "xref": ["DOID:3352", "GARD:0023190", "MEDGEN:149264", "NCIT:C8563", "UMLS:C0740479"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0002619", "name": "Bone fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone fibrosarcoma", "bone tissue fibrosarcoma (disease)", "fibrosarcoma of bone", "fibrosarcoma of the bone"], "xref": ["DOID:3354", "GARD:0023191", "MEDGEN:404782", "NCIT:C6604", "UMLS:C2733623"]}
{"category": ["biolink:Disease"], "description": "A non-disseminated osteosarcoma.", "id": "MONDO:0002620", "name": "Localized osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["localized osteogenic sarcoma", "localized osteosarcoma", "osteosarcoma, localised", "osteosarcoma, localized"], "xref": ["DOID:3356", "MEDGEN:124467", "NCIT:C7780", "UMLS:C0278511"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the soft tissue.", "id": "MONDO:0002621", "name": "Extraosseous osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extraosseous osteosarcoma", "extraskeletal osteogenic sarcoma", "extraskeletal osteosarcoma", "osteosarcoma, extraskeletal, malignant", "soft tissue osteosarcoma"], "xref": ["DOID:3357", "GARD:0023192", "ICD9:170.9", "MEDGEN:163186", "NCIT:C8810", "SCTID:404077005", "UMLS:C0855052"]}
{"category": ["biolink:Disease"], "description": "A primary bone osteosarcoma affecting multiple bone sites.", "id": "MONDO:0002622", "name": "Multifocal osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["multicentric osteosarcoma", "multifocal osteosarcoma"], "xref": ["DOID:3360", "MEDGEN:233199", "NCIT:C6470", "UMLS:C1334820"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma occurring in childhood.", "id": "MONDO:0002623", "name": "Pediatric osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood osteogenic sarcoma", "childhood osteosarcoma", "childhood osteosarcoma (disease)", "osteosarcoma (disease) of childhood", "paediatric osteosarcoma (disease)", "pediatric osteosarcoma", "pediatric osteosarcoma (disease)"], "xref": ["DOID:3361", "MEDGEN:272464", "NANDO:2200048", "NCIT:C6585", "UMLS:C1332986"]}
{"category": ["biolink:Disease"], "description": "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0002624", "name": "Bone leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone leiomyosarcoma", "bone tissue leiomyosarcoma", "leiomyosarcoma of bone", "leiomyosarcoma of bone tissue"], "xref": ["DOID:3367", "GARD:0023193", "MEDGEN:234043", "NCIT:C7154", "UMLS:C1332579"]}
{"category": ["biolink:Disease"], "description": "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.", "id": "MONDO:0002625", "name": "Ewing sarcoma of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Ewing sarcoma of bone", "Ewing's sarcoma of bone", "Ewing's sarcoma, osseous", "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour", "bone Ewing's sarcoma", "bone localised Ewing sarcoma", "bone localised Ewing's sarcoma", "bone tissue Ewing sarcoma", "localised skeletal Ewing's sarcoma", "osseous Ewing's sarcoma", "osseous Ewing's tumor", "osseous Ewing's tumour", "skeletal Ewing's sarcoma", "skeletal Ewing's tumor", "skeletal Ewing's tumour"], "xref": ["DOID:3368", "GARD:0023194", "ICD9:170.9", "MEDGEN:108438", "NCIT:C4835", "SCTID:307608006", "UMLS:C0585474"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a accessory XI nerve spinal component.", "id": "MONDO:0002626", "name": "Spinal accessory nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["XIth cranial nerve neoplasms", "XIth cranial nerve tumors", "XIth cranial nerve tumours", "accessory XI nerve spinal component neoplasm", "accessory XI nerve spinal component neoplasm (disease)", "accessory XI nerve spinal component tumor", "accessory XI nerve spinal component tumour", "accessory nerve neoplasm", "eleventh cranial nerve neoplasm", "eleventh cranial nerve neoplasms", "eleventh cranial nerve tumor", "eleventh cranial nerve tumors", "eleventh cranial nerve tumour", "eleventh cranial nerve tumours", "neoplasm of accessory XI nerve spinal component", "neoplasm of eleventh cranial nerve", "neoplasm of spinal accessory nerve", "neoplasm of the eleventh cranial nerve", "neoplasm of the spinal accessory nerve", "spinal accessory nerve neoplasm", "spinal accessory nerve neoplasms", "spinal accessory nerve tumor", "spinal accessory nerve tumors", "spinal accessory nerve tumour", "spinal accessory nerve tumours", "tumor of accessory XI nerve spinal component", "tumor of eleventh cranial nerve", "tumor of spinal accessory nerve", "tumor of the eleventh cranial nerve", "tumor of the spinal accessory nerve", "tumour of accessory XI nerve spinal component", "tumour of eleventh cranial nerve", "tumour of spinal accessory nerve", "tumour of the eleventh cranial nerve", "tumour of the spinal accessory nerve"], "xref": ["DOID:337", "ICD9:239.7", "MEDGEN:266074", "NCIT:C5829", "SCTID:126977003", "UMLS:C1263902"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.", "id": "MONDO:0002627", "name": "Chondroblastic osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chondroblastic osteogenic sarcoma", "chondroblastic osteosarcoma", "chondroblastic osteosarcoma (morphologic abnormality)"], "xref": ["DOID:3372", "GARD:0023195", "ICDO:9181/3", "MEDGEN:79013", "NCIT:C4021", "ONCOTREE:CHOS", "UMLS:C0279603"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.", "id": "MONDO:0002628", "name": "Peripheral osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone surface (peripheral) osteosarcoma", "peripheral osteosarcoma", "surface osteosarcoma"], "xref": ["DOID:3374", "GARD:0023196", "MEDGEN:272379", "NCIT:C7134", "UMLS:C1332591"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.", "id": "MONDO:0002629", "name": "Bone osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone osteosarcoma", "osteosarcoma of bone", "osteosarcoma, somatic", "osteosarcoma, somatic mutation"], "xref": ["DOID:3376", "GARD:0007284", "ICD9:170.9", "MEDGEN:108437", "MedDRA:10031291", "NCIT:C53707", "OMIM:259500", "Orphanet:668", "SCTID:307576001", "UMLS:C0585442"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.", "id": "MONDO:0002630", "name": "Small cell osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["small cell osteosarcoma"], "xref": ["DOID:3377", "GARD:0023197", "ICDO:9185/3", "MEDGEN:83532", "NCIT:C4023", "ONCOTREE:SCOS", "UMLS:C0279622"]}
{"category": ["biolink:Disease"], "description": "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.", "id": "MONDO:0002631", "name": "Conventional osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central osteosarcoma", "conventional central osteosarcoma", "conventional osteosarcoma", "intracortical osteogenic sarcoma", "intracortical osteosarcoma", "intracortical osteosarcoma (morphologic abnormality)", "medullary osteosarcoma"], "xref": ["DOID:3378", "DOID:7602", "GARD:0023198", "ICDO:9186/3", "ICDO:9195/3", "MEDGEN:1843980", "NCIT:C35870", "UMLS:C5848244"]}
{"category": ["biolink:Disease"], "description": "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.", "id": "MONDO:0002632", "name": "Metachronous osteosarcoma of the bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["metachronous osteosarcoma", "metachronous osteosarcoma of the bone"], "xref": ["DOID:3379", "GARD:0023199", "MEDGEN:233695", "NCIT:C38157", "UMLS:C1334704"]}
{"category": ["biolink:Disease"], "description": "Abnormal growth of the cells that comprise the cranial nerves.", "id": "MONDO:0002633", "name": "Cranial nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve neoplasm", "cranial nerve neoplasm (disease)", "cranial nerve neoplasms", "cranial nerve tumor", "cranial nerve tumour", "neoplasm of cranial nerve", "neoplasm of the cranial nerve", "tumor of cranial nerve", "tumor of the cranial nerve", "tumour of cranial nerve", "tumour of the cranial nerve"], "xref": ["DOID:338", "ICD9:239.7", "MEDGEN:3263", "MESH:D003390", "NCIT:C2963", "SCTID:126966009", "UMLS:C0010267"]}
{"category": ["biolink:Disease"], "description": "A very rare malignant adipose tissue neoplasm that arises from the bone.", "id": "MONDO:0002634", "name": "Liposarcoma of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone liposarcoma", "bone tissue liposarcoma", "liposarcoma of bone", "liposarcoma of bone tissue", "liposarcoma of the bone"], "xref": ["DOID:3381", "GARD:0023200", "MEDGEN:231450", "NCIT:C7598", "UMLS:C1332581"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.", "id": "MONDO:0002635", "name": "Periodontal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of periodontium", "disease or disorder of periodontium", "disorder of periodontium", "periodontal disease", "periodontal disorder", "periodontium disease", "periodontium disease or disorder"], "xref": ["DOID:3388", "ICD9:523.8", "MEDGEN:10658", "MESH:D010510", "NCIT:C63743", "SCTID:2556008", "UMLS:C0031090"]}
{"category": ["biolink:Disease"], "description": "A disease involving the accessory XI nerve.", "id": "MONDO:0002636", "name": "Accessory nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["accessory XI nerve disease", "accessory XI nerve disease or disorder", "accessory nerve disorder", "disease of accessory XI nerve", "disease or disorder of accessory XI nerve", "disorder of 11th nerve", "disorder of accessory XI nerve", "disorder of accessory [11th] nerve", "disorder of the 11th nerve", "eleventh nerve disorder"], "xref": ["DOID:339", "ICD9:352.4", "MEDGEN:57512", "MESH:D020436", "NCIT:C26953", "SCTID:84759007", "UMLS:C0152180"]}
{"category": ["biolink:Disease"], "description": "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.", "id": "MONDO:0002637", "name": "Histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["histiocytic infiltrate", "histiocytic syndrome"], "xref": ["DOID:3405", "MEDGEN:6845", "MESH:D015614", "NANDO:2100005", "NCIT:C3106", "ONCOTREE:HDCN", "UMLS:C0019618"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a glossopharyngeal nerve.", "id": "MONDO:0002638", "name": "Glossopharyngeal nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IXth cranial nerve neoplasms", "IXth cranial nerve tumors", "IXth cranial nerve tumours", "Ninth cranial nerve neoplasm", "Ninth cranial nerve neoplasms", "Ninth cranial nerve tumor", "Ninth cranial nerve tumors", "Ninth cranial nerve tumour", "Ninth cranial nerve tumours", "glossopharyngeal nerve neoplasm", "glossopharyngeal nerve neoplasm (disease)", "glossopharyngeal nerve neoplasms", "glossopharyngeal nerve tumor", "glossopharyngeal nerve tumors", "glossopharyngeal nerve tumour", "glossopharyngeal nerve tumours", "neoplasm of Ninth cranial nerve", "neoplasm of glossopharyngeal nerve", "neoplasm of the Ninth cranial nerve", "neoplasm of the glossopharyngeal nerve", "tumor of Ninth cranial nerve", "tumor of glossopharyngeal nerve", "tumor of the Ninth cranial nerve", "tumor of the glossopharyngeal nerve", "tumour of Ninth cranial nerve", "tumour of glossopharyngeal nerve", "tumour of the Ninth cranial nerve", "tumour of the glossopharyngeal nerve"], "xref": ["DOID:3417", "ICD9:239.7", "MEDGEN:224734", "NCIT:C5828", "SCTID:126975006", "UMLS:C1263900"]}
{"category": ["biolink:Disease"], "description": "A disease involving the glossopharyngeal nerve.", "id": "MONDO:0002639", "name": "Glossopharyngeal nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IX nerve disorder", "disease of glossopharyngeal nerve", "disease or disorder of glossopharyngeal nerve", "disorder of glossopharyngeal nerve", "glossopharyngeal nerve disease", "glossopharyngeal nerve disease or disorder", "glossopharyngeal nerve disorder", "ninth nerve disorder"], "xref": ["DOID:3418", "ICD9:352", "ICD9:352.2", "MEDGEN:199771", "NCIT:C27211", "SCTID:80962007", "UMLS:C0751941"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.", "id": "MONDO:0002640", "name": "Optic nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve II neoplasm", "cranial nerve II neoplasm (disease)", "cranial nerve II neoplasms", "cranial nerve II tumor", "cranial nerve II tumour", "neoplasm of cranial nerve II", "neoplasm of optic nerve", "neoplasm of second cranial nerve", "neoplasm of the optic nerve", "neoplasm of the second cranial nerve", "neoplasms, optic nerve", "neoplasms, second cranial nerve", "optic nerve neoplasm", "optic nerve neoplasms", "optic nerve tumor", "optic nerve tumour", "second cranial nerve neoplasm", "second cranial nerve neoplasms", "second cranial nerve tumor", "second cranial nerve tumour", "tumor of cranial nerve II", "tumor of optic nerve", "tumor of second cranial nerve", "tumor of the optic nerve", "tumor of the second cranial nerve", "tumour of cranial nerve II", "tumour of second cranial nerve", "tumour of the optic nerve", "tumour of the second cranial nerve"], "xref": ["DOID:3419", "EFO:1001073", "ICD9:239.7", "MEDGEN:101181", "MESH:D019574", "NCIT:C4801", "SCTID:395505000", "UMLS:C0524802"]}
{"category": ["biolink:Disease"], "description": "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.", "id": "MONDO:0002641", "name": "Subclavian artery aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:342", "ICD9:442.82", "MEDGEN:510068", "SCTID:40136003", "UMLS:C0155746"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a trochlear nerve.", "id": "MONDO:0002642", "name": "Trochlear nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IVth cranial nerve neoplasms", "IVth cranial nerve tumors", "IVth cranial nerve tumours", "fourth cranial nerve neoplasm", "fourth cranial nerve neoplasms", "fourth cranial nerve tumor", "fourth cranial nerve tumors", "fourth cranial nerve tumour", "fourth cranial nerve tumours", "neoplasm of fourth cranial nerve", "neoplasm of the fourth cranial nerve", "neoplasm of the trochlear nerve", "neoplasm of trochlear nerve", "trochlear nerve neoplasm (disease)", "trochlear nerve neoplasms", "trochlear nerve tumor", "trochlear nerve tumors", "trochlear nerve tumour", "trochlear nerve tumours", "tumor of fourth cranial nerve", "tumor of the fourth cranial nerve", "tumor of the trochlear nerve", "tumor of trochlear nerve", "tumour of fourth cranial nerve", "tumour of the fourth cranial nerve", "tumour of the trochlear nerve", "tumour of trochlear nerve"], "xref": ["DOID:3421", "ICD9:239.7", "MEDGEN:226811", "NCIT:C5825", "SCTID:126970001", "UMLS:C1263896"]}
{"category": ["biolink:Disease"], "description": "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.", "id": "MONDO:0002643", "name": "Vestibular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vestibular labyrinth", "disease of vestibular system", "disease or disorder of vestibular labyrinth", "disorder of vestibular labyrinth", "vestibular labyrinth disease", "vestibular labyrinth disease or disorder", "vestibular system disease"], "xref": ["DOID:3426", "EFO:0009691", "MEDGEN:12079", "MESH:D015837", "UMLS:C0042594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002644", "name": "Idiopathic granulomatous myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["idiopathic granulomatous myositis"], "xref": ["DOID:3428", "GARD:0023202", "MEDGEN:235204", "NCIT:C27575", "Orphanet:206979", "UMLS:C1334150"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the cerebrum.", "id": "MONDO:0002645", "name": "Cerebritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral hemisphere inflammation", "inflammation of cerebral hemisphere"], "xref": ["DOID:3431", "MEDGEN:149273", "NCIT:C27199", "UMLS:C0742115"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.", "id": "MONDO:0002646", "name": "Viral laryngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Viruses caused laryngitis", "Viruses laryngitis"], "xref": ["DOID:3436", "ICD9:464.00", "MEDGEN:167276", "NCIT:C27305", "SCTID:441551009", "UMLS:C0853195"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.", "id": "MONDO:0002647", "name": "Laryngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of larynx", "laryngeal Inflammation", "laryngeal inflammation", "larynx inflammation"], "xref": ["DOID:3437", "ICD9:464.00", "MEDGEN:7273", "MESH:D007827", "NCIT:C26811", "SCTID:45913009", "UMLS:C0023067"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.", "id": "MONDO:0002648", "name": "Mammary paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paget disease of the breast", "Paget's disease of breast", "Paget's disease of the breast", "breast Paget disease", "mammary Paget disease", "mammary Paget's disease"], "xref": ["DOID:3443", "ICDO:8540/3", "MEDGEN:18263", "MESH:D010144", "NCIT:C47857", "UMLS:C0030185"]}
{"category": ["biolink:Disease"], "description": "A mammary Paget's disease that involves the scrotum.", "id": "MONDO:0002649", "name": "Scrotum paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paget disease of the scrotum", "Paget's disease of scrotum", "Paget's disease of the scrotum", "scrotal Paget's disease", "scrotum Paget disease", "scrotum Paget's disease", "scrotum mammary Paget's disease"], "xref": ["DOID:3444", "MEDGEN:65959", "NCIT:C7728", "UMLS:C0238330"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the scrotum.", "id": "MONDO:0002650", "name": "Scrotal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of scrotum", "carcinoma of the scrotum", "scrotum carcinoma"], "xref": ["DOID:3445", "MEDGEN:235088", "NCIT:C6389", "UMLS:C1370468"]}
{"category": ["biolink:Disease"], "description": "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).", "id": "MONDO:0002651", "name": "Anal paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget disease of the anus", "Paget's disease of anus", "Paget's disease of the anus", "anal Paget disease", "anal Paget's disease", "anus Paget disease", "anus mammary Paget's disease"], "xref": ["DOID:3446", "GARD:0023203", "MEDGEN:233981", "NCIT:C5598", "UMLS:C1332274"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.", "id": "MONDO:0002652", "name": "Anus adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of anus", "adenocarcinoma of the anus", "anal adenocarcinoma", "anus adenocarcinoma"], "xref": ["DOID:3447", "GARD:0027609", "MEDGEN:233976", "NCIT:C5600", "SCTID:423607006", "UMLS:C1332257"]}
{"category": ["biolink:Disease"], "description": "A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003", "id": "MONDO:0002653", "name": "Paget disease of the penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Paget disease of the penis", "Paget's disease of penis", "Paget's disease of the penis", "adenocarcinoma of penis", "penile adenocarcinoma", "penis Paget disease", "penis adenocarcinoma", "penis mammary Paget's disease"], "xref": ["DOID:3448", "GARD:0021638", "MEDGEN:66374", "NCIT:C27817", "Orphanet:398053", "SCTID:398768004", "UMLS:C0221286"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.", "id": "MONDO:0002654", "name": "Uterine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of uterus", "disease or disorder of uterus", "disorder of uterus", "uterine disease", "uterine disorder", "uterus disease", "uterus disease or disorder"], "xref": ["DOID:345", "ICD9:621.8", "ICD9:621.9", "MEDGEN:22590", "MESH:D014591", "NCIT:C26907", "SCTID:12337004", "UMLS:C0042131"]}
{"category": ["biolink:Disease"], "description": "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.", "id": "MONDO:0002655", "name": "Cutaneous paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutaneous Paget's disease", "zone of skin Paget disease"], "xref": ["DOID:3450"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the zone of skin", "id": "MONDO:0002656", "name": "Skin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of skin", "carcinoma of the skin", "carcinoma of zone of skin", "non-melanoma cancer of skin", "non-melanoma cancer of the skin", "non-melanoma skin cancer", "nonmelanoma skin cancer", "skin cancer, non-melanoma", "skin carcinoma", "zone of skin carcinoma"], "xref": ["DOID:3451", "EFO:0009259", "MEDGEN:195945", "NCIT:C4914", "UMLS:C0699893"]}
{"category": ["biolink:Disease"], "description": "A disease involving the breast.", "id": "MONDO:0002657", "name": "Breast disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast disease", "breast disease or disorder", "breast diseases", "breast disorder", "disease of breast", "disease or disorder of breast", "disorder of breast"], "xref": ["DOID:3463", "EFO:0009483", "ICD10CM:N60-N65", "ICD9:610-612", "ICD9:611.8", "ICD9:611.9", "MEDGEN:652", "MESH:D001941", "NCIT:C26709", "SCTID:79604008", "UMLS:C0006145"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the iris.", "id": "MONDO:0002658", "name": "Iris cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of iris", "iris cancer", "malignant iris neoplasm", "malignant iris tumor", "malignant iris tumour", "malignant neoplasm of iris", "malignant neoplasm of the iris", "malignant tumor of iris", "malignant tumor of the iris", "malignant tumour of iris", "malignant tumour of the iris"], "xref": ["DOID:3478", "MEDGEN:91103", "NCIT:C4554", "SCTID:188264002", "UMLS:C0346372", "icd11.foundation:982190055"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.", "id": "MONDO:0002659", "name": "Uveal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of uvea", "malignant neoplasm of the uvea", "malignant neoplasm of uvea", "malignant tumor of the uvea", "malignant tumor of uvea", "malignant tumour of the uvea", "malignant tumour of uvea", "malignant uvea neoplasm", "malignant uvea tumor", "malignant uvea tumour", "malignant uveal neoplasm", "malignant uveal tumor", "malignant uveal tumour", "uvea cancer"], "xref": ["DOID:3479", "EFO:1001230", "MEDGEN:1772018", "NCIT:C6105", "UMLS:C3665670", "icd11.foundation:232747171"]}
{"category": ["biolink:Disease"], "description": "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.", "id": "MONDO:0002660", "name": "Blepharochalasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blepharochalasis", "blepharochalasis (disease)"], "xref": ["DOID:348", "HP:0010749", "ICD10CM:H02.3", "ICD9:374.34", "MEDGEN:14154", "SCTID:47704002", "UMLS:C0005742", "icd11.foundation:583527617"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.", "id": "MONDO:0002661", "name": "Uveal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of uvea", "disease or disorder of uvea", "disorder of uvea", "uvea disease", "uvea disease or disorder", "uveal disease", "uveal disorder", "uveal tract disease"], "xref": ["DOID:3480", "MEDGEN:21804", "MESH:D014603", "NCIT:C26908", "SCTID:95678007", "UMLS:C0042161"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.", "id": "MONDO:0002664", "name": "Extrahepatic bile duct signet ring cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct signet Ring cell carcinoma", "bile duct signet ring cell carcinoma", "extrahepatic bile duct signet Ring cell carcinoma", "signet Ring cell bile duct carcinoma", "signet Ring cell carcinoma of bile duct", "signet Ring cell carcinoma of the bile duct"], "xref": ["DOID:3494", "GARD:0023204", "MEDGEN:163667", "NCIT:C5776", "UMLS:C0861859"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct", "id": "MONDO:0002665", "name": "Extrahepatic bile duct adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of extrahepatic bile duct", "adenocarcinoma of the extrahepatic bile duct", "extrahepatic bile duct adenocarcinoma"], "xref": ["DOID:3495", "GARD:0023205", "MEDGEN:124642", "NCIT:C7975", "UMLS:C0279659"]}
{"category": ["biolink:Disease"], "description": "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.", "id": "MONDO:0002666", "name": "Pancreatic signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreas signet ring cell carcinoma", "pancreatic signet Ring cell carcinoma", "pancreatic signet ring cell carcinoma", "signet Ring cell carcinoma of pancreas", "signet Ring cell carcinoma of the pancreas"], "xref": ["DOID:3497", "GARD:0027610", "MEDGEN:233834", "NCIT:C5720", "UMLS:C1335317"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.", "id": "MONDO:0002667", "name": "Gallbladder signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder signet ring cell carcinoma", "gallbladder signet Ring cell carcinoma", "signet Ring cell carcinoma of gallbladder", "signet Ring cell carcinoma of the gallbladder"], "xref": ["DOID:3499", "GARD:0023206", "MEDGEN:232228", "NCIT:C5745", "UMLS:C1333758"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.", "id": "MONDO:0002669", "name": "Ampullary signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater signet Ring cell carcinoma", "ampullary signet Ring cell carcinoma", "ampullary signet ring cell carcinoma"], "xref": ["DOID:3501", "GARD:0023207", "MEDGEN:231057", "NCIT:C6656", "UMLS:C1332249"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla", "id": "MONDO:0002670", "name": "Ampulla of vater adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of ampulla of Vater", "ampulla of Vater adenocarcinoma", "ampullary adenocarcinoma", "hepatopancreatic ampulla adenocarcinoma", "invasive adenocarcinoma of the ampullary region"], "xref": ["DOID:3502", "EFO:0008490", "GARD:0023208", "MEDGEN:231054", "NCIT:C6650", "UMLS:C1332243", "icd11.foundation:1601321941"]}
{"category": ["biolink:Disease"], "description": "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.", "id": "MONDO:0002671", "name": "Signet ring cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SRC breast carcinoma", "SRC carcinoma of breast", "SRC carcinoma of the breast", "breast signet ring cell carcinoma", "mammary signet Ring cell carcinoma", "primary SRC breast carcinoma", "primary SRC carcinoma of breast", "primary SRC carcinoma of the breast", "primary mammary signet Ring cell carcinoma", "primary signet Ring cell breast carcinoma", "primary signet Ring cell carcinoma of breast", "primary signet Ring cell carcinoma of the breast", "signet Ring cell breast carcinoma", "signet Ring cell carcinoma of breast", "signet Ring cell carcinoma of the breast"], "xref": ["DOID:3503", "MEDGEN:236816", "NCIT:C5175", "ONCOTREE:BRSRCC", "UMLS:C1335964"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.", "id": "MONDO:0002672", "name": "Acinar prostate adenocarcinoma, signet ring variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acinar prostate adenocarcinoma, signet Ring variant", "prostate gland signet ring cell carcinoma", "signet Ring cell carcinoma of the prostate"], "xref": ["DOID:3504", "GARD:0027611", "MEDGEN:1835069", "NCIT:C5535", "UMLS:C5787291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002674", "name": "Stricture or kinking of ureter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3508", "ICD9:593.3", "MEDGEN:574605", "UMLS:C0341728"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)", "id": "MONDO:0002675", "name": "Neurofibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["neurosarcoma [obs]"], "xref": ["DOID:3512", "GARD:0008211", "MEDGEN:104927", "MESH:D018319", "UMLS:C0206729"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.", "id": "MONDO:0002676", "name": "Adult fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult fibrosarcoma", "adult fibrosarcoma (disease)", "fibrosarcoma (disease) of adults"], "xref": ["DOID:3516", "GARD:0023209", "MEDGEN:75840", "NANDO:2200060", "NCIT:C7809", "UMLS:C0278595"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.", "id": "MONDO:0002677", "name": "Conventional fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["classic fibrosarcoma", "classical fibrosarcoma", "conventional fibrosarcoma"], "xref": ["DOID:3517", "GARD:0023210", "MEDGEN:232393", "NCIT:C9429", "UMLS:C1333156"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0002678", "name": "Pediatric fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["childhood fibrosarcoma", "pediatric fibrosarcoma"], "xref": ["DOID:3520", "GARD:0023211", "MEDGEN:124685", "NANDO:2200060", "NCIT:C8088", "UMLS:C0279981"]}
{"category": ["biolink:Disease"], "description": "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.", "id": "MONDO:0002679", "name": "Cerebral infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CVA - cerebral infarction", "brain infarction of telencephalon", "cerebral infarct", "cerebral infarction", "cerebral ischemia", "cerebral, infarction", "infarction, cerebral", "telencephalon brain infarction"], "xref": ["DOID:3526", "ICD10CM:I63", "ICD10CM:I63.9", "ICD10WHO:I63", "ICD9:433.01", "ICD9:433.21", "ICD9:433.31", "ICD9:433.81", "ICD9:434.91", "MEDGEN:3321", "MESH:D002544", "NCIT:C50486", "SCTID:432504007", "UMLS:C0007785", "icd11.foundation:1614716959", "icd11.foundation:636274910"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the choroid plexus", "id": "MONDO:0002681", "name": "Choroid plexus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of choroid plexus", "choroid plexus cancer", "malignant choroid plexus neoplasm", "malignant choroid plexus neoplasms", "malignant choroid plexus tumor", "malignant choroid plexus tumors", "malignant choroid plexus tumour", "malignant choroid plexus tumours", "malignant neoplasm of choroid plexus", "malignant neoplasm of the choroid plexus", "malignant tumor of choroid plexus", "malignant tumor of the choroid plexus", "malignant tumour of choroid plexus", "malignant tumour of the choroid plexus"], "xref": ["DOID:3540", "EFO:0007206", "GARD:0023212", "MEDGEN:138053", "NCIT:C4533", "UMLS:C0346289"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.", "id": "MONDO:0002682", "name": "Cerebral ventricle cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain neoplasms, intraventricular", "brain ventricle cancer", "cancer of brain ventricle", "intraventricular brain neoplasm", "intraventricular brain neoplasms", "intraventricular brain tumor", "intraventricular brain tumour", "intraventricular neoplasm of brain", "intraventricular neoplasm of the brain", "intraventricular neoplasms", "intraventricular tumor of brain", "intraventricular tumor of the brain", "intraventricular tumour of brain", "intraventricular tumour of the brain", "malignant brain ventricle neoplasm", "malignant neoplasm of brain ventricle"], "xref": ["DOID:3541", "GARD:0027612", "ICD9:191.5", "MEDGEN:3325", "MESH:D002551", "NCIT:C2937", "SCTID:126958000", "UMLS:C0007798", "icd11.foundation:940756217"]}
{"category": ["biolink:Disease"], "description": "A choroid plexus neoplasm that occurs in an adult.", "id": "MONDO:0002683", "name": "Adult choroid plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult choroid plexus neoplasm", "adult choroid plexus tumor", "adult choroid plexus tumour", "choroid plexus neoplasm of adults", "neoplasm of adult choroid plexus", "neoplasm of the adult choroid plexus", "tumor of adult choroid plexus", "tumor of the adult choroid plexus", "tumour of adult choroid plexus", "tumour of the adult choroid plexus"], "xref": ["DOID:3542", "GARD:0023213", "MEDGEN:163268", "NCIT:C8568", "UMLS:C0796430"]}
{"category": ["biolink:Disease"], "description": "A choroid plexus papilloma characterized by increased mitotic activity.", "id": "MONDO:0002684", "name": "Atypical choroid plexus papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atypical CPP", "atypical choroid plexus papilloma", "atypical choroid plexus papilloma (morphologic abnormality)", "atypical papilloma of choroid plexus"], "xref": ["DOID:3544", "GARD:0020723", "ICDO:9390/1", "MEDGEN:220431", "NCIT:C53686", "ONCOTREE:ACPP", "Orphanet:251902", "UMLS:C1266176", "icd11.foundation:1640044333"]}
{"category": ["biolink:Disease"], "description": "A choroid plexus carcinoma that occurs during childhood.", "id": "MONDO:0002685", "name": "Childhood choroid plexus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["childhood choroid plexus carcinoma", "choroid plexus carcinoma of childhood", "paediatric choroid plexus carcinoma", "pediatric choroid plexus carcinoma"], "xref": ["DOID:3545", "GARD:0023214", "MEDGEN:901899", "NCIT:C124292", "UMLS:C1510426"]}
{"category": ["biolink:Disease"], "description": "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.", "id": "MONDO:0002687", "name": "Superior mesenteric artery syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["superior mesenteric artery syndrome", "superior mesenteric artery syndromic disease", "syndromic disease of superior mesenteric artery"], "xref": ["DOID:3557", "GARD:0007712", "MEDGEN:21404", "MESH:D013478", "NCIT:C85175", "NORD:1955", "Orphanet:622099", "SCTID:197006009", "UMLS:C0038828"]}
{"category": ["biolink:Disease"], "description": "Blockage of the normal flow of stomach contents through the duodenum.", "id": "MONDO:0002688", "name": "Duodenal obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3558", "MEDGEN:4417", "MESH:D004380", "SCTID:95532008", "UMLS:C0013292", "icd11.foundation:1450844990"]}
{"category": ["biolink:Disease"], "description": "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.", "id": "MONDO:0002691", "name": "Liver cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of liver", "hepatic cancer", "liver cancer", "malignant liver neoplasm", "malignant neoplasm of liver", "malignant neoplasm of liver, not specified as primary or secondary", "malignant neoplasm of liver, primary", "malignant tumour of liver", "primary liver cancer", "primary malignant liver neoplasm", "primary malignant neoplasm of liver"], "xref": ["DOID:3571", "GARD:0027613", "ICD9:155.0", "ICD9:155.2", "MEDGEN:87520", "NCIT:C34803", "SCTID:93870000", "UMLS:C0345904", "icd11.foundation:1605020868"]}
{"category": ["biolink:Disease"], "description": "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.", "id": "MONDO:0002692", "name": "Intracranial sinus thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3572", "MEDGEN:20771", "MESH:D012851", "UMLS:C0037198"]}
{"category": ["biolink:Disease"], "description": "Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.", "id": "MONDO:0002693", "name": "Lateral sinus thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3574", "MEDGEN:124359", "MESH:D020227", "SCTID:192761004", "UMLS:C0270639"]}
{"category": ["biolink:Disease"], "description": "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)", "id": "MONDO:0002694", "name": "Cavernous sinus thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3575", "MEDGEN:65970", "MESH:D020226", "SCTID:89980009", "UMLS:C0238454"]}
{"category": ["biolink:Disease"], "description": "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.", "id": "MONDO:0002695", "name": "Sagittal sinus thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3576", "MEDGEN:90927", "MESH:D020225", "SCTID:192760003", "UMLS:C0338575"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.", "id": "MONDO:0002696", "name": "Sertoli cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sertoli cell tumor", "tubular androblastoma NOS (morphologic abnormality)"], "xref": ["DOID:3577", "ICDO:8630/1", "ICDO:8640/1", "MEDGEN:11387", "MESH:D012707", "NCIT:C39976", "UMLS:C0036769"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.", "id": "MONDO:0002697", "name": "Ovarian gonadoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["gonadoblastoma of ovary", "ovarian gonadoblastoma", "ovarian gonadoblastoma (disease)", "ovary gonadoblastoma"], "xref": ["DOID:3578", "GARD:0017100", "HP:0000149", "MEDGEN:309510", "NCIT:C39985", "OMIM:424500", "Orphanet:206484", "SCTID:716594002", "UMLS:C1518716", "icd11.foundation:1564602847"]}
{"category": ["biolink:Disease"], "description": "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.", "id": "MONDO:0002698", "name": "Testicular gonadoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gonadoblastoma of testis", "testicular gonadoblastoma", "testicular gonadoblastoma (disease)", "testis gonadoblastoma"], "xref": ["DOID:3579", "GARD:0023215", "HP:0000030", "MEDGEN:272839", "NCIT:C39911", "UMLS:C1515283"]}
{"category": ["biolink:Disease"], "description": "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.", "id": "MONDO:0002701", "name": "Ovarian mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucinous cystadenocarcinoma of ovary", "mucinous cystadenocarcinoma of the ovary", "ovarian mucinous cystadenocarcinoma", "ovary mucinous cystadenocarcinoma"], "xref": ["DOID:3604", "EFO:1001963", "GARD:0023216", "MEDGEN:76011", "NCIT:C4026", "SCTID:254851009", "UMLS:C0279665"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.", "id": "MONDO:0002702", "name": "Ovarian cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cystadenocarcinoma of ovary", "cystadenocarcinoma of the ovary", "ovarian cystadenocarcinoma", "ovary cystadenocarcinoma"], "xref": ["DOID:3605", "EFO:1001962", "GARD:0023217", "MEDGEN:242756", "NCIT:C5228", "SCTID:314191009", "UMLS:C1096638"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.", "id": "MONDO:0002703", "name": "Appendix mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["appendiceal colloid cystadenocarcinoma", "appendiceal colloidal cystadenocarcinoma", "appendiceal mucinous cystadenocarcinoma", "appendix colloid cystadenocarcinoma", "appendix colloidal cystadenocarcinoma", "appendix mucinous cystadenocarcinoma", "colloid cystadenocarcinoma of appendix", "colloid cystadenocarcinoma of the appendix", "colloidal cystadenocarcinoma of appendix", "colloidal cystadenocarcinoma of the appendix", "mucinous cystadenocarcinoma of appendix", "mucinous cystadenocarcinoma of the appendix", "vermiform appendix mucinous cystadenocarcinoma"], "xref": ["DOID:3607", "GARD:0023218", "MEDGEN:204256", "NCIT:C5511", "UMLS:C1096639"]}
{"category": ["biolink:Disease"], "description": "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.", "id": "MONDO:0002705", "name": "Breast mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast mucinous cystadenocarcinoma"], "xref": ["DOID:3609", "MEDGEN:267769", "NCIT:C40354", "UMLS:C1511318"]}
{"category": ["biolink:Disease"], "description": "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.", "id": "MONDO:0002706", "name": "Cervix endometriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical endometriosis", "endometriosis (disease) of uterine cervix", "uterine cervix endometriosis (disease)"], "xref": ["DOID:361", "MEDGEN:78705", "NCIT:C27623", "SCTID:61640006", "UMLS:C0269107"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.", "id": "MONDO:0002707", "name": "Breast mucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast mucinous carcinoma", "colloid breast carcinoma", "colloid carcinoma of breast", "colloid carcinoma of the breast", "infiltrating colloid breast carcinoma", "infiltrating mucinous breast carcinoma", "invasive colloid breast carcinoma", "invasive mucinous breast carcinoma", "mucinous breast cancer", "mucinous breast carcinoma", "mucinous carcinoma of breast", "mucinous carcinoma of the breast"], "xref": ["DOID:3610", "MEDGEN:235337", "NCIT:C9131", "ONCOTREE:IMMC", "SCTID:444712000", "UMLS:C1334807"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the retina.", "id": "MONDO:0002708", "name": "Retinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of retina", "retina inflammation"], "xref": ["DOID:3612", "GARD:0023219", "MEDGEN:19765", "MESH:D012173", "NCIT:C115993", "SCTID:399463004", "UMLS:C0035333"]}
{"category": ["biolink:Disease"], "description": "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.", "id": "MONDO:0002710", "name": "Infiltrating angiolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiolipoma, infiltrating (morphologic abnormality)", "infiltrating angiolipoma"], "xref": ["DOID:3615", "MEDGEN:227009", "NCIT:C7449", "UMLS:C1305256"]}
{"category": ["biolink:Disease"], "description": "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.", "id": "MONDO:0002712", "name": "Epidural spinal canal angiolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiolipoma of epidural space", "angiolipoma of epidural spinal canal", "angiolipoma of the epidural spinal canal", "angiolipoma of the extradural spinal canal", "epidural space angiolipoma", "extradural spinal canal angiolipoma"], "xref": ["DOID:3617", "MEDGEN:232461", "NCIT:C5424", "UMLS:C1333416"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.", "id": "MONDO:0002713", "name": "Epidural spinal canal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidural neoplasm", "epidural space neoplasm", "epidural space tumor", "epidural space tumour", "epidural spinal canal tumor", "epidural spinal canal tumors", "epidural spinal canal tumour", "epidural spinal canal tumours", "epidural spinal neoplasms", "epidural spinal tumors", "epidural spinal tumours", "epidural tumor", "epidural tumour", "extradural neoplasm", "extradural spinal canal neoplasm", "extradural spinal canal neoplasms", "extradural spinal canal tumor", "extradural spinal canal tumour", "extradural spinal neoplasms", "extradural spinal tumors", "extradural spinal tumours", "extradural tumour", "neoplasm of epidural space", "neoplasm of epidural spinal canal", "neoplasm of extradural spinal canal", "neoplasm of the epidural spinal canal", "neoplasm of the extradural spinal canal", "tumor of epidural space", "tumor of epidural spinal canal", "tumor of extradural spinal canal", "tumor of the epidural spinal canal", "tumor of the extradural spinal canal", "tumour of epidural space", "tumour of epidural spinal canal", "tumour of extradural spinal canal", "tumour of the epidural spinal canal", "tumour of the extradural spinal canal"], "xref": ["DOID:3618", "MEDGEN:4504", "MESH:D015174", "NCIT:C3019", "UMLS:C0014536"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the central nervous system", "id": "MONDO:0002714", "name": "Central nervous system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS cancer", "CNS malignant neoplasms", "CNS neoplasms, malignant", "cancer of CNS", "cancer of central nervous system", "cancer of the CNS", "cancer of the central nervous system", "central nervous system cancer", "central nervous system neoplasms, malignant", "central nervous system tumours", "malignant CNS neoplasm", "malignant CNS neoplasms", "malignant CNS tumor", "malignant CNS tumour", "malignant central nervous system neoplasm", "malignant central nervous system tumor", "malignant central nervous system tumour", "malignant neoplasm of CNS", "malignant neoplasm of central nervous system", "malignant neoplasm of the CNS", "malignant neoplasm of the central nervous system", "malignant tumor of CNS", "malignant tumor of central nervous system", "malignant tumor of the CNS", "malignant tumor of the central nervous system", "malignant tumour of CNS", "malignant tumour of central nervous system", "malignant tumour of the CNS", "malignant tumour of the central nervous system"], "xref": ["DOID:3620", "EFO:0000326", "GARD:0027614", "ICD9:239.7", "MEDGEN:87593", "MESH:D016543", "NANDO:2100007", "NCIT:C4627", "SCTID:126951006", "UMLS:C0348374"]}
{"category": ["biolink:Disease"], "description": "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.", "id": "MONDO:0002715", "name": "Uterine cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of the uterus", "cancer of uterus", "malignant neoplasm of the uterus", "malignant neoplasm of uterus", "malignant tumor of the uterus", "malignant tumor of uterus", "malignant tumour of the uterus", "malignant tumour of uterus", "malignant uterine neoplasm", "malignant uterine tumor", "malignant uterine tumour", "malignant uterus neoplasm", "uterine cancer", "uterus cancer"], "xref": ["DOID:363", "ICD9:179", "MEDGEN:57791", "MESH:D014594", "NCIT:C3552", "SCTID:371973000", "UMLS:C0153567", "icd11.foundation:1551596364"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the spinal cord during childhood.", "id": "MONDO:0002716", "name": "Childhood spinal cord tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood spinal cord neoplasm", "paediatric spinal cord neoplasm", "pediatric spinal cord neoplasm", "spinal cord neoplasm of childhood"], "xref": ["DOID:3637", "MEDGEN:209512", "NCIT:C9234", "UMLS:C1134515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002717", "name": "Spinal cord intramedullary teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intramedullary spinal cord teratoma", "intramedullary spinal teratoma", "intramedullary teratoma of spinal cord", "intramedullary teratoma of the spinal cord"], "xref": ["DOID:3639", "GARD:0023220", "MEDGEN:233575", "NCIT:C5428", "UMLS:C1334259"]}
{"category": ["biolink:Disease"], "description": "A mature or immature teratoma that affects the central nervous system.", "id": "MONDO:0002718", "name": "Central nervous system teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CNS teratoma", "central nervous system teratoma", "teratoma of CNS", "teratoma of central nervous system", "teratoma of the CNS", "teratoma of the central nervous system"], "xref": ["DOID:3640", "GARD:0020735", "MEDGEN:234105", "NANDO:2200104", "NCIT:C5441", "Orphanet:252018", "UMLS:C1332895"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the conus medullaris.", "id": "MONDO:0002719", "name": "Conus medullaris neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conus medullaris neoplasm", "conus medullaris neoplasm (disease)", "conus medullaris tumor", "conus medullaris tumour", "neoplasm of conus medullaris", "neoplasm of the conus medullaris", "tumor of conus medullaris", "tumor of the conus medullaris", "tumour of conus medullaris", "tumour of the conus medullaris"], "xref": ["DOID:3641", "MEDGEN:232392", "NCIT:C5443", "UMLS:C1333153"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.", "id": "MONDO:0002720", "name": "Sella turcica neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of sella turcica", "neoplasm of the sella turcica", "sella turcica neoplasm", "sella turcica tumor", "sella turcica tumour", "sellar neoplasm", "sellar tumor", "sellar tumour", "tumor of the sella turcica", "tumour of sella turcica", "tumour of the sella turcica"], "xref": ["DOID:3643", "GARD:0023221", "MEDGEN:148188", "NCIT:C4944", "ONCOTREE:SELT", "UMLS:C0748616"]}
{"category": ["biolink:Disease"], "description": "Ischemic or hemorrhagic necrosis of the pituitary gland.", "id": "MONDO:0002721", "name": "Necrosis of pituitary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pituitary gland Necrosis", "pituitary necrosis"], "xref": ["DOID:3646", "MEDGEN:124404", "NCIT:C27066", "SCTID:59572000", "UMLS:C0271558"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.", "id": "MONDO:0002722", "name": "Olfactory nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cranial nerve I neoplasms", "first cranial nerve neoplasm", "first cranial nerve neoplasms", "first cranial nerve tumor", "first cranial nerve tumour", "neoplasm of first cranial nerve", "neoplasm of olfactory nerve", "neoplasm of the first cranial nerve", "neoplasm of the olfactory nerve", "neoplasms, cranial nerve I", "neoplasms, olfactory nerve", "olfactory nerve neoplasm", "olfactory nerve neoplasm (disease)", "olfactory nerve neoplasms", "olfactory nerve tumor", "olfactory nerve tumour", "olfactory neural neoplasm", "olfactory neural tumour", "tumor of first cranial nerve", "tumor of olfactory nerve", "tumor of the first cranial nerve", "tumor of the olfactory nerve", "tumour of first cranial nerve", "tumour of olfactory nerve", "tumour of the first cranial nerve", "tumour of the olfactory nerve"], "xref": ["DOID:366", "DOID:8256", "ICD9:239.7", "MEDGEN:87551", "NCIT:C5121", "SCTID:126967000", "UMLS:C0346319"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)", "id": "MONDO:0002724", "name": "Mast cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mast cell proliferative disease", "Mast cell tumor", "Mast cell tumour", "mast cell neoplasm", "mast cell tumor", "mast cell tumour", "neoplasm of Mast cells", "neoplasm of the Mast cells", "tumor of Mast cells", "tumor of the Mast cells", "tumour of Mast cells", "tumour of the Mast cells"], "xref": ["DOID:3664", "EFO:0009000", "GARD:0023222", "ICD9:238.79", "MEDGEN:83178", "NCIT:C9295", "SCTID:414653009", "UMLS:C0334664"]}
{"category": ["biolink:Disease"], "description": "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.", "id": "MONDO:0002726", "name": "Cutaneous solitary mastocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["skin solitary mastocytoma", "solitary mastocytoma of skin", "solitary mastocytoma of the skin"], "xref": ["DOID:3666", "GARD:0023223", "ICDO:9740/1", "MESH:D054705", "NCIT:C7138"]}
{"category": ["biolink:Disease"], "description": "A disease involving the olfactory nerve.", "id": "MONDO:0002727", "name": "Olfactory nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of olfactory nerve", "disease or disorder of olfactory nerve", "disorder of 1st nerve", "disorder of olfactory [1st] nerve", "disorder of olfactory nerve", "disorder of the 1st nerve", "olfactory nerve disease", "olfactory nerve disease or disorder", "olfactory nerve disorder"], "xref": ["DOID:367", "ICD9:352.0", "MEDGEN:155962", "MESH:D020431", "NCIT:C27210", "SCTID:68982002", "UMLS:C0751937"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.", "id": "MONDO:0002728", "name": "Rhabdoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant rhabdoid tumor", "rhabdoid sarcoma", "rhabdoid tumor"], "xref": ["DOID:3672", "EFO:0005701", "GARD:0007572", "ICDO:8963/3", "MEDGEN:64646", "MESH:D018335", "NANDO:2200057", "NCIT:C3808", "ONCOTREE:MRT", "Orphanet:69077", "UMLS:C0206743"]}
{"category": ["biolink:Disease"], "description": "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.", "id": "MONDO:0002729", "name": "Rhabdoid tumor of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MRTK", "kidney rhabdoid tumor", "kidney rhabdoid tumour", "malignant rhabdoid tumor of kidney", "malignant rhabdoid tumor of the kidney", "malignant rhabdoid tumour of kidney", "malignant rhabdoid tumour of the kidney", "renal rhabdoid neoplasm", "renal rhabdoid tumor", "renal rhabdoid tumour", "rhabdoid neoplasm of kidney", "rhabdoid neoplasm of the kidney", "rhabdoid tumor of kidney", "rhabdoid tumor of the kidney", "rhabdoid tumor of the kidney (RTK)", "rhabdoid tumour of kidney", "rhabdoid tumour of the kidney (RTK)"], "xref": ["DOID:3674", "EFO:1000512", "GARD:0023224", "MEDGEN:208930", "NCIT:C8715", "UMLS:C0854917"]}
{"category": ["biolink:Disease"], "description": "A kidney neoplasm that occurs during childhood.", "id": "MONDO:0002730", "name": "Childhood kidney neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["childhood kidney neoplasm", "childhood kidney tumor", "childhood kidney tumour", "childhood renal neoplasm", "childhood renal tumor", "childhood renal tumour", "kidney neoplasm of childhood", "paediatric kidney neoplasm", "paediatric kidney tumour", "paediatric renal neoplasm", "paediatric renal tumour", "pediatric kidney neoplasm", "pediatric kidney tumor", "pediatric renal neoplasm", "pediatric renal tumor"], "xref": ["DOID:3675", "MEDGEN:232356", "NCIT:C6563", "UMLS:C1333003"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the cerebral hemisphere.", "id": "MONDO:0002731", "name": "Cerebral hemisphere cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of cerebral hemisphere", "cancer of telencephalon", "cerebral cancer", "malignant cerebral hemisphere neoplasm", "malignant cerebral hemispheric neoplasm", "malignant cerebral hemispheric tumor", "malignant cerebral hemispheric tumour", "malignant cerebral neoplasm", "malignant cerebral tumor", "malignant cerebral tumour", "malignant neoplasm of cerebral hemisphere", "malignant neoplasm of cerebral hemispheres", "malignant neoplasm of cerebrum", "malignant neoplasm of telencephalon", "malignant neoplasm of the cerebral hemispheres", "malignant neoplasm of the cerebrum", "malignant telencephalon neoplasm", "malignant tumor of cerebral hemispheres", "malignant tumor of cerebrum", "malignant tumor of the cerebral hemispheres", "malignant tumor of the cerebrum", "malignant tumour of cerebral hemispheres", "malignant tumour of cerebrum", "malignant tumour of the cerebral hemispheres", "malignant tumour of the cerebrum", "telencephalon cancer"], "xref": ["DOID:368", "GARD:0027615", "ICD9:191.8", "MEDGEN:91109", "NCIT:C4577", "SCTID:429033009", "UMLS:C0346903"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.", "id": "MONDO:0002732", "name": "Lung benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign lung neoplasm", "benign lung tumor", "benign lung tumour", "benign neoplasm of lung", "benign neoplasm of the lung", "benign tumor of lung", "benign tumor of the lung", "benign tumour of lung", "benign tumour of the lung", "lung benign neoplasm"], "xref": ["DOID:3683", "MEDGEN:83393", "NCIT:C4454", "UMLS:C0345963"]}
{"category": ["biolink:Disease"], "description": "An anal adenocarcinoma characterized by the presence of mucoid stroma formation.", "id": "MONDO:0002734", "name": "Anal mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal colloid adenocarcinoma", "anal colloidal adenocarcinoma", "anal mucinous adenocarcinoma", "anus mucinous adenocarcinoma", "colloid adenocarcinoma of anus", "colloid adenocarcinoma of the anus", "colloidal adenocarcinoma of anus", "colloidal adenocarcinoma of the anus", "mucinous adenocarcinoma of anus", "mucinous adenocarcinoma of the anus"], "xref": ["DOID:3691", "GARD:0027616", "MEDGEN:233980", "NCIT:C5606", "UMLS:C1332272"]}
{"category": ["biolink:Disease"], "description": "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.", "id": "MONDO:0002735", "name": "Anal canal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adenocarcinoma arising in anal mucosa", "adenocarcinoma arising in the anal mucosa", "adenocarcinoma of anal canal", "adenocarcinoma of the anal canal", "anal canal adenocarcinoma", "anal canal adenocarcinoma (disease)"], "xref": ["DOID:3692", "GARD:0021773", "HP:0030439", "MEDGEN:233977", "NCIT:C7471", "Orphanet:424016", "SCTID:764845008", "UMLS:C1332259", "icd11.foundation:168138050"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.", "id": "MONDO:0002736", "name": "Ampulla of vater mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater mucinous adenocarcinoma", "hepatopancreatic ampulla mucinous adenocarcinoma"], "xref": ["DOID:3693", "GARD:0023225", "MEDGEN:233973", "NCIT:C27416", "UMLS:C1332248"]}
{"category": ["biolink:Disease"], "description": "A acute transudative otitis media which involves bloody effusion.", "id": "MONDO:0002737", "name": "Acute sanguinous otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3696", "ICD9:381.03", "MEDGEN:583100", "SCTID:77478005", "UMLS:C0395865"]}
{"category": ["biolink:Disease"], "description": "Acute form of non-suppurative otitis media.", "id": "MONDO:0002738", "name": "Acute transudative otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute nonsuppurative otitis media", "non-suppurative otitis media, acute"], "xref": ["DOID:3697", "ICD9:381.0", "ICD9:381.00", "MEDGEN:543339", "SCTID:359609001", "UMLS:C0271432"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.", "id": "MONDO:0002739", "name": "Extrahepatic bile duct mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct colloid carcinoma", "bile duct colloidal carcinoma", "bile duct mucinous adenocarcinoma", "colloid adenocarcinoma of bile duct", "colloid adenocarcinoma of extrahepatic bile duct", "colloid adenocarcinoma of the bile duct", "colloid adenocarcinoma of the extrahepatic bile duct", "colloid bile duct adenocarcinoma", "colloid bile duct carcinoma", "colloid carcinoma of bile duct", "colloid carcinoma of the bile duct", "colloid extrahepatic bile duct adenocarcinoma", "colloidal adenocarcinoma of bile duct", "colloidal adenocarcinoma of extrahepatic bile duct", "colloidal adenocarcinoma of the bile duct", "colloidal adenocarcinoma of the extrahepatic bile duct", "colloidal bile duct adenocarcinoma", "colloidal bile duct carcinoma", "colloidal carcinoma of bile duct", "colloidal carcinoma of the bile duct", "colloidal extrahepatic bile duct adenocarcinoma", "extrahepatic bile duct mucinous adenocarcinoma", "mucinous adenocarcinoma of bile duct", "mucinous adenocarcinoma of extrahepatic bile duct", "mucinous adenocarcinoma of the bile duct", "mucinous adenocarcinoma of the extrahepatic bile duct", "mucinous bile duct adenocarcinoma", "mucinous carcinoma of bile duct", "mucinous carcinoma of the bile duct", "mucinous extrahepatic bile duct adenocarcinoma"], "xref": ["DOID:3698", "GARD:0023226", "MEDGEN:167830", "NCIT:C5846", "UMLS:C0861856"]}
{"category": ["biolink:Disease"], "description": "A rare mucinous adenocarcinoma that arises from the uterine ligament.", "id": "MONDO:0002740", "name": "Uterine ligament mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3699", "GARD:0023227", "NCIT:C40137"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma that arises from the uterine ligament.", "id": "MONDO:0002741", "name": "Uterine ligament adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3700", "GARD:0023228", "MEDGEN:311429", "NCIT:C40135", "UMLS:C1519866"]}
{"category": ["biolink:Disease"], "description": "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.", "id": "MONDO:0002742", "name": "Cervical mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cervical mucinous adenocarcinoma", "uterine cervix mucinous adenocarcinoma"], "xref": ["DOID:3701", "GARD:0023229", "MEDGEN:232048", "NCIT:C36095", "UMLS:C1332919"]}
{"category": ["biolink:Disease"], "description": "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.", "id": "MONDO:0002744", "name": "Fallopian tube mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube mucinous adenocarcinoma"], "xref": ["DOID:3704", "GARD:0023230", "MEDGEN:274489", "NCIT:C40103", "UMLS:C1517119"]}
{"category": ["biolink:Disease"], "description": "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.", "id": "MONDO:0002745", "name": "Fallopian tube mucinous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fallopian tube mucinous neoplasm", "fallopian tube mucinous tumor"], "xref": ["DOID:3705", "MEDGEN:275871", "NCIT:C40109", "UMLS:C1517120"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the fallopian tube", "id": "MONDO:0002746", "name": "Fallopian tube adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of fallopian tube", "adenocarcinoma of the fallopian tube", "fallopian tube adenocarcinoma"], "xref": ["DOID:3706", "GARD:0023231", "MEDGEN:232183", "NCIT:C6265", "UMLS:C1333590"]}
{"category": ["biolink:Disease"], "description": "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.", "id": "MONDO:0002747", "name": "Endometrial mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial mucinous adenocarcinoma", "endometrium mucinous adenocarcinoma"], "xref": ["DOID:3707", "EFO:1000236", "MEDGEN:276939", "NCIT:C40144", "ONCOTREE:UMC", "UMLS:C1519859", "icd11.foundation:395055399"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.", "id": "MONDO:0002748", "name": "Rectum mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colloid adenocarcinoma of rectum", "colloid adenocarcinoma of the rectum", "colloidal adenocarcinoma of rectum", "colloidal adenocarcinoma of the rectum", "mucinous adenocarcinoma of rectum", "mucinous adenocarcinoma of the rectum", "rectal colloid adenocarcinoma", "rectal colloidal adenocarcinoma", "rectal mucinous adenocarcinoma", "rectum mucinous adenocarcinoma"], "xref": ["DOID:3709", "MEDGEN:83537", "NCIT:C7973", "UMLS:C0279652"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma arising from an anatomic site other than the brain.", "id": "MONDO:0002749", "name": "Extracranial neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:371", "GARD:0023232", "NCIT:C5437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002750", "name": "Bladder colloid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder mucinous adenocarcinoma"], "xref": ["DOID:3710", "MEDGEN:267373", "NCIT:C39837", "UMLS:C1511193"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the urinary bladder", "id": "MONDO:0002751", "name": "Bladder adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of bladder", "adenocarcinoma of the bladder", "adenocarcinoma of the urinary bladder", "adenocarcinoma of urinary bladder", "bladder adenocarcinoma", "urinary bladder adenocarcinoma"], "xref": ["DOID:3711", "EFO:1000125", "MEDGEN:76014", "NCIT:C4032", "ONCOTREE:BLAD", "SCTID:255110003", "UMLS:C0279682"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.", "id": "MONDO:0002752", "name": "Ovarian adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of ovary", "adenocarcinoma of the ovary", "ovarian adenocarcinoma", "ovary adenocarcinoma"], "xref": ["DOID:3713", "EFO:0006460", "GARD:0020466", "MEDGEN:181757", "MedDRA:10051938", "NCIT:C7700", "Orphanet:213504", "UMLS:C0948216"]}
{"category": ["biolink:Disease"], "description": "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.", "id": "MONDO:0002754", "name": "Extramedullary plasmacytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extramedullary plasmacytoma", "extramedullary plasmacytoma (clinical)", "extraosseous plasmacytoma", "plasmacytoma, extramedullary", "plasmacytoma, extramedullary (not occurring in bone)"], "xref": ["DOID:3720", "GARD:0023233", "ICD10CM:C90.2", "ICD9:203.80", "ICDO:9734/3", "MEDGEN:75843", "NCIT:C4002", "ONCOTREE:EP", "SCTID:188718006", "UMLS:C0278619", "icd11.foundation:246947217"]}
{"category": ["biolink:Disease"], "description": "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.", "id": "MONDO:0002755", "name": "Solitary osseous plasmacytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["isolated plasmacytoma of bone", "solitary plasmacytoma of bone"], "xref": ["DOID:3722", "GARD:0023234", "ICD9:238.6", "MEDGEN:75777", "NCIT:C7812", "ONCOTREE:SPB", "SCTID:426336007", "UMLS:C0272256"]}
{"category": ["biolink:Disease"], "description": "A solitary plasmacytoma that arises from the chest wall.", "id": "MONDO:0002756", "name": "Solitary plasmacytoma of chest wall", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chest wall plasmacytoma", "chest wall solitary plasmacytoma", "plasmacytoma of chest wall", "solitary plasmacytoma of chest wall", "solitary plasmacytoma of the chest wall"], "xref": ["DOID:3723", "GARD:0023235", "MEDGEN:232340", "NCIT:C6711", "UMLS:C1332936"]}
{"category": ["biolink:Disease"], "description": "A acute sanguinous otitis media caused by an allergen.", "id": "MONDO:0002757", "name": "Acute allergic sanguinous otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3728", "ICD9:381.06", "MEDGEN:509958", "SCTID:17866004", "UMLS:C0155420"]}
{"category": ["biolink:Disease"], "description": "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.", "id": "MONDO:0002758", "name": "Vulva verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mammalian vulva verrucous carcinoma", "verrucous carcinoma of the vulva", "verrucous carcinoma of vulva", "vulvar verrucous carcinoma"], "xref": ["DOID:3740", "GARD:0023236", "MEDGEN:234482", "NCIT:C6383", "UMLS:C1336983"]}
{"category": ["biolink:Disease"], "description": "A verrucous carcinoma that involves the urinary bladder.", "id": "MONDO:0002759", "name": "Bladder verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder verrucous carcinoma", "bladder verrucous squamous cell carcinoma", "urinary bladder verrucous carcinoma"], "xref": ["DOID:3741", "MEDGEN:267376", "NCIT:C39832", "UMLS:C1511208"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.", "id": "MONDO:0002760", "name": "Bladder squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder epidermoid carcinoma", "bladder squamous cell cancer", "bladder squamous cell carcinoma", "epidermoid carcinoma of bladder", "epidermoid carcinoma of the bladder", "epidermoid carcinoma of the urinary bladder", "epidermoid carcinoma of urinary bladder", "squamous cell carcinoma of bladder", "squamous cell carcinoma of the bladder", "squamous cell carcinoma of the urinary bladder", "squamous cell carcinoma of urinary bladder", "urinary bladder epidermoid carcinoma", "urinary bladder squamous cell carcinoma"], "xref": ["DOID:3742", "EFO:1000130", "MEDGEN:124645", "NCIT:C4031", "ONCOTREE:BLSC", "SCTID:255111004", "UMLS:C0279681"]}
{"category": ["biolink:Disease"], "description": "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.", "id": "MONDO:0002761", "name": "Cervical verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical verrucous carcinoma", "uterine cervix verrucous carcinoma"], "xref": ["DOID:3743", "GARD:0023237", "MEDGEN:275713", "NCIT:C40190", "UMLS:C1516435"]}
{"category": ["biolink:Disease"], "description": "A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)", "id": "MONDO:0002762", "name": "Esophagus verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal verrucous cancer", "esophageal verrucous carcinoma", "esophagus verrucous carcinoma", "verrucous carcinoma of esophagus", "verrucous carcinoma of the esophagus", "verrucous carcinoma of the oesophagus"], "xref": ["DOID:3747", "GARD:0023238", "MEDGEN:272594", "NCIT:C27420", "UMLS:C1333470"]}
{"category": ["biolink:Disease"], "description": "A verrucous carcinoma that involves the urethra.", "id": "MONDO:0002763", "name": "Urethral verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["urethra verrucous carcinoma", "urethral verrucous carcinoma"], "xref": ["DOID:3749", "GARD:0027617", "MEDGEN:274359", "NCIT:C39874", "UMLS:C1519827"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.", "id": "MONDO:0002764", "name": "Urethra squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of the urethra", "epidermoid carcinoma of urethra", "squamous cell carcinoma of the urethra", "squamous cell carcinoma of urethra", "urethra epidermoid carcinoma", "urethra squamous cell carcinoma", "urethral epidermoid carcinoma", "urethral squamous cell cancer", "urethral squamous cell carcinoma"], "xref": ["DOID:3750", "GARD:0027618", "MEDGEN:234975", "NCIT:C6165", "ONCOTREE:USCC", "UMLS:C1336890"]}
{"category": ["biolink:Disease"], "description": "A verrucous carcinoma that involves the plantar part of pes.", "id": "MONDO:0002765", "name": "Plantar verrucous skin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["plantar part of pes verrucous carcinoma", "plantar verrucous carcinoma of skin", "plantar verrucous carcinoma of the skin", "plantar verrucous skin carcinoma"], "xref": ["DOID:3751", "MEDGEN:578859", "NCIT:C6811", "UMLS:C0349657"]}
{"category": ["biolink:Disease"], "description": "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.", "id": "MONDO:0002766", "name": "Larynx verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal throat verrucous cancer", "laryngeal verrucous carcinoma", "larynx verrucous carcinoma", "verrucous carcinoma of larynx", "verrucous carcinoma of the larynx"], "xref": ["DOID:3752", "GARD:0023239", "MEDGEN:76097", "NCIT:C8188", "SCTID:707427000", "UMLS:C0280328"]}
{"category": ["biolink:Disease"], "description": "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.", "id": "MONDO:0002768", "name": "True hermaphroditism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["ovotestis", "true hermaphroditism"], "xref": ["DOID:3763", "GARD:0023240", "MEDGEN:78595", "NCIT:C85207", "SCTID:237821001", "UMLS:C0266361"]}
{"category": ["biolink:Disease"], "description": "Whitish or yellowish mucosal vaginal discharge.", "id": "MONDO:0002769", "name": "Leukorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3766", "MEDGEN:44134", "MESH:D007973", "UMLS:C0023533"]}
{"category": ["biolink:Disease"], "description": "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.", "id": "MONDO:0002770", "name": "Vaginal discharge", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Discharge, vaginal"], "xref": ["DOID:3767", "MEDGEN:65302", "MESH:D019522", "NCIT:C50795", "UMLS:C0227791", "icd11.foundation:2123556104"]}
{"category": ["biolink:Disease"], "description": "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).", "id": "MONDO:0002771", "name": "Pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pulmonary interstitial fibrosis"], "xref": ["DOID:3770", "EFO:0009448", "GARD:0023241", "MEDGEN:11028", "MESH:D011658", "NCIT:C26869", "SCTID:51615001", "UMLS:C0034069"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the ventricles of the brain.", "id": "MONDO:0002772", "name": "Intraventricular meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain ventricle meningioma (disease)", "meningioma (disease) of brain ventricle"], "xref": ["DOID:3772", "GARD:0023242", "MEDGEN:232669", "NCIT:C5273", "UMLS:C1334271"]}
{"category": ["biolink:Disease"], "description": "The absence of ovulation.", "id": "MONDO:0002775", "name": "Anovulation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3781", "MEDGEN:1951", "MESH:D000858", "UMLS:C0003128", "icd11.foundation:563648258"]}
{"category": ["biolink:Disease"], "description": "A disease involving the external ear.", "id": "MONDO:0002776", "name": "External ear disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of external ear", "disease or disorder of external ear", "disorder of external ear", "external ear disease", "external ear disease or disorder", "external ear disorder"], "xref": ["DOID:379", "EFO:0009668", "ICD10CM:H60-H62", "ICD9:380", "ICD9:380.9", "ICD9:744.47", "MEDGEN:57606", "NCIT:C26972", "SCTID:49130001", "UMLS:C0155388"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises in the epidural spinal canal space.", "id": "MONDO:0002778", "name": "Epidural spinal canal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of epidural spinal canal", "meningioma of the epidural spinal canal"], "xref": ["DOID:3809", "GARD:0023243", "MEDGEN:232462", "NCIT:C5310", "UMLS:C1333417"]}
{"category": ["biolink:Disease"], "description": "An extraskeletal chondroma usually arising from the dura.", "id": "MONDO:0002779", "name": "Central nervous system chondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CNS chondroma", "CNS osteochondroma", "central nervous system chondroma", "central nervous system osteochondroma", "chondroma of CNS", "chondroma of central nervous system", "chondroma of the CNS", "chondroma of the central nervous system", "osteochondroma of CNS", "osteochondroma of central nervous system", "osteochondroma of the CNS", "osteochondroma of the central nervous system"], "xref": ["DOID:3813", "MEDGEN:272474", "NCIT:C7001", "UMLS:C1333019"]}
{"category": ["biolink:Disease"], "description": "Paralysis of the glossopharyngeal nerve.", "id": "MONDO:0002781", "name": "Glossopharyngeal nerve paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cranial nerve palsy of glossopharyngeal nerve", "glossopharyngeal nerve cranial nerve palsy"], "xref": ["DOID:3816", "MEDGEN:1696475", "NCIT:C27335", "UMLS:C5231192"]}
{"category": ["biolink:Disease"], "description": "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.", "id": "MONDO:0002782", "name": "Cranial nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve palsy", "cranial nerve paralysis"], "xref": ["DOID:3817", "EFO:0009489", "MEDGEN:57717", "NCIT:C26941", "UMLS:C0151311"]}
{"category": ["biolink:Disease"], "description": "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.", "id": "MONDO:0002783", "name": "Shwartzman phenomenon", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Shwartzman reaction (function)"], "xref": ["DOID:3825", "GARD:0007636", "MEDGEN:48656", "MESH:D012790", "UMLS:C0037018"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the skull base.", "id": "MONDO:0002785", "name": "Skull base neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basicranium neoplasm", "basicranium neoplasm (disease)", "basicranium tumor", "basicranium tumour", "neoplasm of basicranium", "neoplasm of skull base", "neoplasm of the skull base", "skull base neoplasm", "skull base tumor", "skull base tumour", "tumor of basicranium", "tumor of skull base", "tumor of the skull base", "tumour of basicranium", "tumour of skull base", "tumour of the skull base", "tumours of skull base"], "xref": ["DOID:3842", "GARD:0023244", "MEDGEN:138208", "MESH:D019292", "NCIT:C4676", "UMLS:C0376527"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a diencephalon.", "id": "MONDO:0002786", "name": "Diencephalic cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of diencephalon", "diencephalon cancer", "malignant diencephalic neoplasm", "malignant diencephalic neoplasms", "malignant diencephalic tumor", "malignant diencephalic tumour", "malignant diencephalon neoplasm", "malignant neoplasm of diencephalon", "tumour of diencephalon"], "xref": ["DOID:3843", "GARD:0027619", "MEDGEN:233659", "NCIT:C5126", "UMLS:C1334576"]}
{"category": ["biolink:Disease"], "description": "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)", "id": "MONDO:0002787", "name": "Adamantinous craniopharyngioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["adamantinomatous craniopharyngioma", "adamantinous Rathke's pouch neoplasm", "adamantinous Rathke's pouch tumor", "adamantinous Rathke's pouch tumour", "adamantinous craniopharyngioma (morphologic abnormality)", "adamantinous neoplasm of Rathke's pouch", "adamantinous tumor of Rathke's pouch", "adamantinous tumour of Rathke's pouch", "craniopharyngioma, adamantinomatous"], "xref": ["DOID:3846", "GARD:0023245", "ICDO:9351/1", "MEDGEN:98126", "NCIT:C4726", "UMLS:C0431129"]}
{"category": ["biolink:Disease"], "description": "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)", "id": "MONDO:0002788", "name": "Papillary craniopharyngioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["craniopharyngioma, papillary", "craniopharyngioma, papillary (morphologic abnormality)", "papillary Rathke pouch neoplasm", "papillary Rathke's pouch neoplasm", "papillary Rathke's pouch tumor", "papillary Rathke's pouch tumour", "papillary craniopharyngioma (morphologic abnormality)", "papillary neoplasm of Rathke's pouch", "papillary tumor of Rathke's pouch", "papillary tumour of Rathke's pouch"], "xref": ["DOID:3847", "GARD:0023246", "ICDO:9352/1", "MEDGEN:98125", "NCIT:C4725", "UMLS:C0431128"]}
{"category": ["biolink:Disease"], "description": "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.", "id": "MONDO:0002789", "name": "Hemangiopericytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangiopericytic neoplasm"], "xref": ["DOID:3850", "MEDGEN:99196", "NCIT:C7076", "UMLS:C0476144"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.", "id": "MONDO:0002790", "name": "Seminal vesicle tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of seminal vesicle", "seminal vesicle neoplasm", "seminal vesicle neoplasm (disease)", "seminal vesicle tumor", "tumor of seminal vesicle"], "xref": ["DOID:3855", "ICD9:239.5", "MEDGEN:90967", "NCIT:C39908", "SCTID:236740006", "UMLS:C0341767"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.", "id": "MONDO:0002791", "name": "Large cell medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["large cell medulloblastoma", "large cell medulloblastoma (morphologic abnormality)"], "xref": ["DOID:3857", "EFO:0008508", "GARD:0023247", "ICDO:9474/3", "MEDGEN:226852", "NCIT:C6904", "UMLS:C1266180"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma arising from the vermis of the cerebellum.", "id": "MONDO:0002792", "name": "Cerebellar vermis medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebellar vermis medulloblastoma", "medulloblastoma of cerebellar vermis", "medulloblastoma of the cerebellar vermis", "vermis medulloblastoma"], "xref": ["DOID:3860", "GARD:0023248", "MEDGEN:232044", "NCIT:C5401", "UMLS:C1332903"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma arising from the brain, occurring in adults.", "id": "MONDO:0002794", "name": "Adult medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain medulloblastoma", "medulloblastoma of adults"], "xref": ["DOID:3864", "GARD:0023249", "MEDGEN:78898", "NANDO:2200090", "NCIT:C4011", "UMLS:C0278876"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified that occurs in adults.", "id": "MONDO:0002795", "name": "Adult central nervous system primitive neuroectodermal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult CNS PNET", "adult CNS primitive neuroectodermal neoplasm", "adult CNS primitive neuroectodermal tumor", "adult CNS primitive neuroectodermal tumour", "adult central nervous system primitive neuroectodermal neoplasm", "adult central nervous system primitive neuroectodermal tumor", "adult central nervous system primitive neuroectodermal tumour", "adult central primitive neuroectodermal neoplasm", "adult central primitive neuroectodermal tumor", "adult central primitive neuroectodermal tumour", "central nervous system primitive neuroectodermal neoplasm of adults"], "xref": ["DOID:3865", "GARD:0027620", "MEDGEN:231039", "NCIT:C5411", "UMLS:C1332196"]}
{"category": ["biolink:Disease"], "description": "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.", "id": "MONDO:0002796", "name": "Melanotic medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["medulloblastoma with melanotic differentiation", "medulloblastoma, melanotic (morphologic abnormality)", "melanocytic medulloblastoma", "melanotic medulloblastoma"], "xref": ["DOID:3868", "GARD:0023250", "MEDGEN:224818", "NCIT:C9497", "ONCOTREE:MMBL", "UMLS:C1275668"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma occurring in children.", "id": "MONDO:0002797", "name": "Childhood medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood medulloblastoma", "medulloblastoma of childhood", "paediatric medulloblastoma", "pediatric medulloblastoma"], "xref": ["DOID:3869", "GARD:0009350", "MEDGEN:75829", "NANDO:2200090", "NCIT:C3997", "UMLS:C0278510"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.", "id": "MONDO:0002798", "name": "Childhood central nervous system primitive neuroectodermal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Central nervous system embryonal tumor, NOS", "central nervous system primitive neuroectodermal neoplasm of childhood", "childhood CNS PNET", "childhood CNS primitive neuroectodermal neoplasm", "childhood CNS primitive neuroectodermal tumor", "childhood CNS primitive neuroectodermal tumour", "childhood central nervous system PNET", "childhood central nervous system primitive neuroectodermal neoplasm", "childhood central nervous system primitive neuroectodermal tumor", "childhood central nervous system primitive neuroectodermal tumour", "childhood central primitive neuroectodermal neoplasm", "childhood central primitive neuroectodermal tumor", "childhood central primitive neuroectodermal tumour", "paediatric CNS PNET", "paediatric CNS primitive neuroectodermal neoplasm", "paediatric CNS primitive neuroectodermal tumour", "paediatric central nervous system primitive neuroectodermal neoplasm", "paediatric central nervous system primitive neuroectodermal tumour", "paediatric central primitive neuroectodermal neoplasm", "paediatric central primitive neuroectodermal tumour", "pediatric CNS PNET", "pediatric CNS primitive neuroectodermal neoplasm", "pediatric CNS primitive neuroectodermal tumor", "pediatric central nervous system primitive neuroectodermal neoplasm", "pediatric central nervous system primitive neuroectodermal tumor", "pediatric central primitive neuroectodermal neoplasm", "pediatric central primitive neuroectodermal tumor"], "xref": ["DOID:3870", "GARD:0027621", "MEDGEN:232347", "NCIT:C5961", "UMLS:C1332957"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the veins associated with the presence of a thrombus.", "id": "MONDO:0002800", "name": "Thrombophlebitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["phlebitis and thrombophlebitis of superficial vessels of lower extremities"], "xref": ["DOID:3875", "ICD10CM:I80.0", "ICD9:451.0", "ICD9:451.2", "MEDGEN:11799", "MESH:D013924", "NCIT:C3410", "SCTID:40283005", "UMLS:C0040046"]}
{"category": ["biolink:Disease"], "description": "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.", "id": "MONDO:0002801", "name": "Colonic pseudo-obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3876", "GARD:0007248", "ICD9:564.89", "MEDGEN:3167", "MESH:D003112", "SCTID:35065006", "UMLS:C0009377"]}
{"category": ["biolink:Disease"], "description": "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.", "id": "MONDO:0002802", "name": "Functional colonic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3877", "MEDGEN:40395", "MESH:D003109", "UMLS:C0009374"]}
{"category": ["biolink:Disease"], "description": "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.", "id": "MONDO:0002803", "name": "Intestinal pseudo-obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Chronic intestinal pseudo-obstruction.", "intestinal pseudo-obstruction", "intestine pseudoobstruction", "pseudo-obstruction of intestine"], "xref": ["DOID:3878", "GARD:0006789", "ICD9:569.89", "MEDGEN:5864", "MESH:D007418", "NCIT:C34733", "SCTID:235825006", "UMLS:C0021847"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.", "id": "MONDO:0002804", "name": "Apocrine adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3895", "ICDO:8401/0", "MEDGEN:90767", "NCIT:C4168", "SCTID:307596009", "UMLS:C0334345"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.", "id": "MONDO:0002805", "name": "Hidradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hidradenoma"], "xref": ["DOID:3896", "MEDGEN:1851798", "NCIT:C7563", "UMLS:C5848251"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma arising from the bronchial epithelium.", "id": "MONDO:0002806", "name": "Bronchogenic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchial carcinoma", "bronchiogenic carcinoma", "bronchogenic carcinoma", "bronchogenic lung cancer", "bronchogenic lung carcinoma", "bronchus carcinoma", "carcinoma of bronchus", "carcinoma, bronchial, malignant"], "xref": ["CSP:2017-6052", "DOID:3904", "EFO:1001942", "ICD9:162.9", "MEDGEN:2872", "MESH:D002283", "NCIT:C35875", "SCTID:254622008", "UMLS:C0007121"]}
{"category": ["biolink:Disease"], "description": "Tumors or cancer of the bronchi.", "id": "MONDO:0002807", "name": "Bronchial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchial neoplasm", "bronchial neoplasm (disease)", "bronchus neoplasm (disease)", "bronchus tumor", "bronchus tumour", "neoplasm of bronchus", "tumor of bronchus", "tumour of bronchus"], "xref": ["DOID:3906", "EFO:1000849", "HP:0030077", "MEDGEN:2735", "MESH:D001984", "NANDO:2200081", "SCTID:126705004", "UMLS:C0006264"]}
{"category": ["biolink:Disease"], "description": "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.", "id": "MONDO:0002808", "name": "Pancreatic serous cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pancreas serous cystadenoma", "pancreatic microcystic adenoma", "pancreatic serous cystadenoma", "serous cystadenoma of pancreas", "serous cystadenoma of the pancreas"], "xref": ["DOID:3917", "MEDGEN:233833", "NCIT:C5712", "ONCOTREE:PSC", "UMLS:C1335316", "icd11.foundation:1362470566"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.", "id": "MONDO:0002809", "name": "Pancreatic cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystadenoma of pancreas", "cystadenoma of the pancreas", "exocrine pancreas cystadenoma"], "xref": ["DOID:3918", "MEDGEN:90963", "NCIT:C4374", "SCTID:235967003", "UMLS:C0341486"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.", "id": "MONDO:0002810", "name": "Pancreatic serous cystic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pancreatic serous cystic neoplasm", "pancreatic serous neoplasm"], "xref": ["DOID:3919", "MEDGEN:274122", "NCIT:C41248", "UMLS:C1518875"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the main bronchus.", "id": "MONDO:0002811", "name": "Main bronchus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of main bronchus", "main bronchus cancer", "malignant main bronchus neoplasm", "malignant neoplasm of main bronchus"], "xref": ["DOID:3924", "ICD10CM:C34.0", "ICD9:162.2", "MEDGEN:509307", "SCTID:372065009", "UMLS:C0153490"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.", "id": "MONDO:0002812", "name": "Infectious otitis interna", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infectious labyrinthitis", "infectious otitis interna", "inner Ear infection", "inner ear infection", "internal Ear infection"], "xref": ["MEDGEN:217000", "NCIT:C27339", "UMLS:C1168225"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm arising from adipocytes.", "id": "MONDO:0002813", "name": "Lipomatous cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adipose tissue cancer", "cancer of adipose tissue", "malignant adipose tissue neoplasm", "malignant adipose tissue tumor", "malignant adipose tissue tumour", "malignant lipomatous neoplasm", "malignant lipomatous tumor", "malignant lipomatous tumour", "malignant neoplasm of adipose tissue", "malignant neoplasm of the adipose tissue", "malignant tumor of adipose tissue", "malignant tumor of the adipose tissue", "malignant tumour of adipose tissue", "malignant tumour of the adipose tissue"], "xref": ["DOID:3939", "ICD9:171.9", "NCIT:C4501", "SCTID:254828009"]}
{"category": ["biolink:Disease"], "description": "A carcinoma involving a adrenal gland.", "id": "MONDO:0002814", "name": "Adrenal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland carcinoma", "carcinoma of adrenal gland"], "xref": ["DOID:3950", "GARD:0023252", "MESH:D018268"]}
{"category": ["biolink:Disease"], "description": "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.", "id": "MONDO:0002815", "name": "Acute myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myocarditis, acute"], "xref": ["DOID:3951", "GARD:0023253", "ICD10WHO:I40", "ICD9:422", "ICD9:422.90", "ICD9:422.99", "MEDGEN:102339", "NCIT:C35206", "SCTID:46701001", "UMLS:C0155686"]}
{"category": ["biolink:Disease"], "description": "A disease involving the adrenal cortex.", "id": "MONDO:0002816", "name": "Adrenal cortex disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adrenal cortex disease", "adrenal cortex disease or disorder", "disease of adrenal cortex", "disease or disorder of adrenal cortex", "disorder of adrenal cortex"], "xref": ["DOID:3952", "MEDGEN:154", "MESH:D000303", "SCTID:129636003", "UMLS:C0001614"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the adrenal gland", "id": "MONDO:0002817", "name": "Adrenal gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenal cancer", "adrenal gland cancer", "cancer of adrenal gland", "malignant adrenal gland neoplasm", "malignant adrenal gland tumor", "malignant adrenal gland tumour", "malignant adrenal neoplasm", "malignant adrenal tumor", "malignant adrenal tumour", "malignant neoplasm of adrenal gland", "malignant neoplasm of the adrenal gland", "malignant tumor of adrenal gland", "malignant tumor of the adrenal gland", "malignant tumour of adrenal gland", "malignant tumour of the adrenal gland"], "xref": ["DOID:3953", "GARD:0005751", "ICD10CM:C74", "ICD9:194.0", "ICD9:239.7", "MEDGEN:152909", "MESH:D000310", "NCIT:C9338", "SCTID:127021009", "UMLS:C0750887", "icd11.foundation:1766185236"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002821", "name": "Trabecular follicular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["follicular adenocarcinoma, trabecular (morphologic abnormality)"], "xref": ["DOID:3964", "GARD:0023254", "MEDGEN:569646", "UMLS:C0334327"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.", "id": "MONDO:0002822", "name": "Trabecular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trabecula adenocarcinoma", "trabecular adenocarcinoma", "trabecular adenocarcinoma (morphologic abnormality)", "trabecular carcinoma"], "xref": ["DOID:3965", "ICDO:8190/3", "ICDO:8332/3", "MEDGEN:86214", "NCIT:C4068", "UMLS:C0302182"]}
{"category": ["biolink:Disease"], "description": "A cardiomyopathy that is not due to abnormalities in heart muscle cells.", "id": "MONDO:0002824", "name": "Extrinsic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["secondary cardiomyopathy"], "xref": ["DOID:3978", "GARD:0023255", "ICD9:425.8", "MEDGEN:739084", "SCTID:195029002", "UMLS:C1689817"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.", "id": "MONDO:0002828", "name": "Bartholin gland transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin gland transitional cell carcinoma", "Bartholin's gland transitional cell carcinoma", "major vestibular gland transitional cell carcinoma"], "xref": ["DOID:3998", "GARD:0023256", "MEDGEN:267340", "NCIT:C40297", "UMLS:C1511053"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.", "id": "MONDO:0002829", "name": "Bartholin gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Bartholin gland cancer", "Bartholin gland carcinoma (disease)", "Bartholin's gland cancer", "Bartholin's gland carcinoma", "bartholin gland carcinoma", "carcinoma of Bartholin's gland", "carcinoma of major vestibular gland", "carcinoma of the Bartholin's gland", "major vestibular gland carcinoma"], "xref": ["DOID:3999", "DOID:60003", "EFO:1000103", "GARD:0023257", "HP:0030419", "MEDGEN:83888", "NCIT:C9055", "SCTID:276876007", "UMLS:C0349561"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.", "id": "MONDO:0002831", "name": "Non-keratinizing sinonasal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-keratinizing sinonasal squamous cell carcinoma"], "xref": ["DOID:4003", "GARD:0023258", "ICDO:8121/3", "MEDGEN:83119", "NCIT:C54287", "ONCOTREE:SNSC", "UMLS:C0334270"]}
{"category": ["biolink:Disease"], "description": "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.", "id": "MONDO:0002832", "name": "Endometrial transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endometrial transitional cell carcinoma"], "xref": ["DOID:4005", "GARD:0023259", "MEDGEN:273232", "NCIT:C40154", "UMLS:C1516864"]}
{"category": ["biolink:Disease"], "description": "A rare transitional cell carcinoma that arises from the fallopian tube.", "id": "MONDO:0002833", "name": "Fallopian tube transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube transitional cell cancer", "fallopian tube transitional cell carcinoma"], "xref": ["DOID:4008", "GARD:0023260", "MEDGEN:274492", "NCIT:C40104", "UMLS:C1517128"]}
{"category": ["biolink:Disease"], "description": "An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.", "id": "MONDO:0002834", "name": "Primary prostate urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["primary prostate urothelial cancer", "primary prostate urothelial carcinoma", "prostate gland transitional cell carcinoma", "prostate transitional cell carcinoma", "prostate urothelial carcinoma", "transitional cell carcinoma of prostate", "transitional cell carcinoma of the prostate"], "xref": ["DOID:4011", "GARD:0023261", "MEDGEN:271382", "NCIT:C39898", "UMLS:C1514430"]}
{"category": ["biolink:Disease"], "description": "A transitional cell carcinoma that arises from the male or female urethra.", "id": "MONDO:0002836", "name": "Urethra transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["transitional cell carcinoma of the urethra", "transitional cell carcinoma of urethra", "urethra transitional cell carcinoma", "urethral transitional cell carcinoma", "urethral urothelial cancer", "urethral urothelial carcinoma"], "xref": ["DOID:4013", "GARD:0023262", "MEDGEN:167840", "NCIT:C6166", "ONCOTREE:UCU", "UMLS:C0863015"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.", "id": "MONDO:0002837", "name": "Sarcomatoid transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sarcomatoid transitional cell carcinoma", "transitional cell carcinoma, sarcomatoid", "transitional cell spindle cell carcinoma", "transitional spindle cell carcinoma"], "xref": ["DOID:4014", "GARD:0023263", "ICDO:8122/3", "MEDGEN:83120", "NCIT:C4120", "UMLS:C0334271"]}
{"category": ["biolink:Disease"], "description": "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.", "id": "MONDO:0002840", "name": "Eosinophilic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["eosinophilic gastritis"], "xref": ["DOID:4030", "GARD:0023264", "ICD9:535.40", "ICD9:535.7", "ICD9:535.70", "MEDGEN:120598", "NCIT:C27052", "SCTID:66329006", "UMLS:C0267154", "icd11.foundation:1944772274"]}
{"category": ["biolink:Disease"], "description": "Gastritis resulting from bacteria.", "id": "MONDO:0002842", "name": "Bacterial gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bacteria caused gastritis (disease)", "Bacteria gastritis (disease)", "bacterial gastritis"], "xref": ["DOID:4033", "MEDGEN:182680", "NCIT:C27340", "SCTID:723096000", "UMLS:C0948039"]}
{"category": ["biolink:Disease"], "description": "Gastritis resulting from fungi.", "id": "MONDO:0002843", "name": "Fungal gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Fungi caused gastritis (disease)", "Fungi gastritis (disease)", "fungal gastritis"], "xref": ["DOID:4034", "MEDGEN:181761", "NCIT:C27342", "SCTID:723097009", "UMLS:C0948638"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002844", "name": "Lymphocytic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphocytic gastritis"], "xref": ["DOID:4035", "ICD9:535.40", "MEDGEN:266188", "NCIT:C27051", "SCTID:360375007", "UMLS:C1283271", "icd11.foundation:2052188597"]}
{"category": ["biolink:Disease"], "description": "A variant of phlegmonous gastritis, typically progressing to gastric gangrene.", "id": "MONDO:0002845", "name": "Necrotizing gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["necrotizing gastritis"], "xref": ["DOID:4037", "MEDGEN:209092", "NCIT:C27329", "UMLS:C0877152"]}
{"category": ["biolink:Disease"], "description": "Gastritis that is associated with the presence of granulomas.", "id": "MONDO:0002846", "name": "Granulomatous gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granulomatous gastritis"], "xref": ["DOID:4038", "MEDGEN:207272", "NCIT:C27348", "UMLS:C1112577"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from skeletal muscle.", "id": "MONDO:0002847", "name": "Skeletal muscle cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of skeletal muscle tissue", "malignant neoplasm of skeletal muscle", "malignant neoplasm of skeletal muscle tissue", "malignant neoplasm of the skeletal muscle", "malignant skeletal muscle neoplasm", "malignant skeletal muscle tissue neoplasm", "malignant skeletal muscle tumor", "malignant skeletal muscle tumour", "malignant tumor of skeletal muscle", "malignant tumor of the skeletal muscle", "malignant tumour of skeletal muscle", "malignant tumour of the skeletal muscle", "skeletal muscle tissue cancer"], "xref": ["DOID:4043", "GARD:0023265", "MEDGEN:233669", "NCIT:C6516", "UMLS:C1334619"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesenchymal neoplasm arising from skeletal muscle.", "id": "MONDO:0002848", "name": "Skeletal muscle neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neoplasm of skeletal muscle", "neoplasm of skeletal muscle tissue", "neoplasm of the skeletal muscle", "skeletal muscle neoplasm", "skeletal muscle tissue neoplasm", "skeletal muscle tissue neoplasm (disease)", "skeletal muscle tissue tumor", "skeletal muscle tissue tumour", "skeletal muscle tumor", "skeletal muscle tumour", "tumor of skeletal muscle", "tumor of skeletal muscle tissue", "tumor of the skeletal muscle", "tumour of skeletal muscle", "tumour of skeletal muscle tissue", "tumour of the skeletal muscle"], "xref": ["DOID:4044", "GARD:0023266", "ICD9:239.2", "MEDGEN:236817", "NCIT:C6514", "SCTID:699955004", "UMLS:C1335971"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.", "id": "MONDO:0002849", "name": "Liver rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hepatic rhabdomyosarcoma", "liver rhabdomyosarcoma", "liver rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of liver", "rhabdomyosarcoma of liver", "rhabdomyosarcoma of the liver"], "xref": ["DOID:4047", "GARD:0023267", "MEDGEN:232598", "NCIT:C5834", "UMLS:C1333975"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.", "id": "MONDO:0002850", "name": "Central nervous system rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS rhabdomyosarcoma", "central nervous system rhabdomyosarcoma", "central nervous system rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of central nervous system", "rhabdomyosarcoma of CNS", "rhabdomyosarcoma of central nervous system", "rhabdomyosarcoma of the CNS", "rhabdomyosarcoma of the central nervous system"], "xref": ["DOID:4048", "GARD:0023268", "MEDGEN:232043", "NCIT:C5464", "UMLS:C1332891"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.", "id": "MONDO:0002851", "name": "Mediastinum rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal rhabdomyosarcoma", "mediastinum rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of mediastinum", "rhabdomyosarcoma of mediastinum", "rhabdomyosarcoma of the mediastinum"], "xref": ["DOID:4049", "GARD:0023269", "MEDGEN:233686", "NCIT:C6617", "UMLS:C1334677"]}
{"category": ["biolink:Disease"], "description": "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.", "id": "MONDO:0002852", "name": "Mediastinum sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal sarcoma", "mediastinum sarcoma", "sarcoma of mediastinum", "sarcoma of the mediastinum"], "xref": ["DOID:4050", "GARD:0023270", "MEDGEN:233687", "NCIT:C6606", "UMLS:C1334678"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.", "id": "MONDO:0002853", "name": "Rectum rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["rectal rhabdomyosarcoma", "rectum rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of rectum", "rhabdomyosarcoma of rectum", "rhabdomyosarcoma of the rectum"], "xref": ["DOID:4053", "GARD:0023271", "MEDGEN:235532", "NCIT:C5627", "UMLS:C1335687"]}
{"category": ["biolink:Disease"], "description": "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.", "id": "MONDO:0002854", "name": "Prostate sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["prostate gland sarcoma", "prostate sarcoma", "sarcoma of prostate", "sarcoma of prostate gland", "sarcoma of the prostate"], "xref": ["DOID:4054", "GARD:0023272", "MEDGEN:116060", "NCIT:C7731", "UMLS:C0238393"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.", "id": "MONDO:0002855", "name": "Ectomesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ectomesenchymoma", "malignant ectomesenchymoma", "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)", "sarcoma with ganglionic or neuroectodermal differentiation"], "xref": ["DOID:4055", "GARD:0012279", "ICDO:8921/3", "MEDGEN:98123", "NCIT:C4716", "UMLS:C0431111"]}
{"category": ["biolink:Disease"], "description": "A rhabdomyosarcoma that is located in the gallbladder.", "id": "MONDO:0002856", "name": "Gallbladder rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["gall bladder rhabdomyosarcoma", "gall bladder rhabdomyosarcoma (disease)", "gallbladder rhabdomyosarcoma", "rhabdomyosarcoma (disease) of gall bladder", "rhabdomyosarcoma of gallbladder", "rhabdomyosarcoma of the gallbladder"], "xref": ["DOID:4057", "GARD:0023273", "MEDGEN:234294", "NCIT:C5839", "UMLS:C1333756"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.", "id": "MONDO:0002857", "name": "Gallbladder sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder sarcoma", "gallbladder sarcoma", "malignant mesenchymal tumour of gallbladder", "sarcoma of gall bladder", "sarcoma of gallbladder", "sarcoma of the gallbladder"], "xref": ["DOID:4058", "GARD:0023274", "MEDGEN:232227", "NCIT:C5736", "UMLS:C1333757"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.", "id": "MONDO:0002858", "name": "Ovary rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ovarian rhabdomyosarcoma", "ovary rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of ovary", "rhabdomyosarcoma of ovary", "rhabdomyosarcoma of the ovary"], "xref": ["DOID:4059", "GARD:0023275", "MEDGEN:233277", "NCIT:C5236", "UMLS:C1335176"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.", "id": "MONDO:0002859", "name": "Breast rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast rhabdomyosarcoma", "breast rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of breast", "rhabdomyosarcoma of breast", "rhabdomyosarcoma of the breast"], "xref": ["DOID:4060", "GARD:0023276", "MEDGEN:231970", "NCIT:C5190", "UMLS:C1332637"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.", "id": "MONDO:0002860", "name": "Testis rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["rhabdomyosarcoma (disease) of testis", "rhabdomyosarcoma of testis", "rhabdomyosarcoma of the testis", "testicular rhabdomyosarcoma", "testis rhabdomyosarcoma (disease)"], "xref": ["DOID:4061", "GARD:0023277", "MEDGEN:234942", "NCIT:C6378", "UMLS:C1336726"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.", "id": "MONDO:0002861", "name": "Testis sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sarcoma of testis", "sarcoma of the testis", "testicular sarcoma", "testis sarcoma"], "xref": ["DOID:4062", "GARD:0023278", "MEDGEN:234943", "NCIT:C6359", "UMLS:C1336727"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that involves the bile duct.", "id": "MONDO:0002862", "name": "Bile duct sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct sarcoma", "sarcoma of bile duct"], "xref": ["DOID:4064", "GARD:0023279"]}
{"category": ["biolink:Disease"], "description": "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.", "id": "MONDO:0002863", "name": "Rhabdomyosarcoma with mixed embryonal and alveolar features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["mixed alveolar rhabdomyosarcoma", "mixed type alveolar rhabdomyosarcoma", "rhabdomyosarcoma with mixed embryonal and alveolar features"], "xref": ["DOID:4065", "GARD:0023280", "ICDO:8902/3", "MEDGEN:313444", "NCIT:C4259", "UMLS:C1709053"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.", "id": "MONDO:0002864", "name": "Anus rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal rhabdomyosarcoma", "anus rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of anus", "rhabdomyosarcoma of anus", "rhabdomyosarcoma of the anus"], "xref": ["DOID:4066", "GARD:0023281", "MEDGEN:231065", "NCIT:C5610", "UMLS:C1332276"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.", "id": "MONDO:0002865", "name": "Anus sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal sarcoma", "anus sarcoma", "sarcoma of anus", "sarcoma of the anus"], "xref": ["DOID:4067", "GARD:0023282", "MEDGEN:233982", "NCIT:C5611", "UMLS:C1332277"]}
{"category": ["biolink:Disease"], "description": "Pathological conditions in the duodenum region of the small intestine (intestine, small).", "id": "MONDO:0002866", "name": "Duodenal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of duodenum", "disease or disorder of duodenum", "disorder of duodenum", "duodenum disease", "duodenum disease or disorder"], "xref": ["DOID:4072", "ICD9:537.89", "ICD9:537.9", "MEDGEN:8502", "MESH:D004378", "SCTID:52182008", "UMLS:C0013289", "icd11.foundation:1195691020"]}
{"category": ["biolink:Disease"], "description": "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.", "id": "MONDO:0002867", "name": "Pancreatic cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cystadenocarcinoma - pancreas", "cystadenocarcinoma of pancreas", "cystadenocarcinoma of the pancreas", "pancreas cystadenocarcinoma", "pancreatic cystadenocarcinoma"], "xref": ["DOID:4073", "GARD:0027622", "MEDGEN:66767", "NCIT:C3874", "SCTID:235966007", "UMLS:C0238337"]}
{"category": ["biolink:Disease"], "description": "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.", "id": "MONDO:0002868", "name": "Bile duct mucinous cystic neoplasm with an associated invasive carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bile duct cystadenocarcinoma", "bile duct cystadenocarcinoma (morphologic abnormality)", "bile duct mucinous cystic neoplasm with an associated invasive carcinoma", "cystadenocarcinoma of bile duct", "cystadenocarcinoma of the bile duct"], "xref": ["DOID:4075", "ICDO:8161/3", "MEDGEN:137737", "NCIT:C4130", "UMLS:C0334286"]}
{"category": ["biolink:Disease"], "description": "A disease involving the cardial valve.", "id": "MONDO:0002869", "name": "Heart valve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardial valve disease", "cardial valve disease or disorder", "disease of cardial valve", "disease or disorder of cardial valve", "disorder of cardial valve", "disorder of heart valve", "heart valve disorder", "valvular heart disorder"], "xref": ["DOID:4079", "EFO:0009551", "ICD9:424.99", "MEDGEN:5463", "MESH:D006349", "NANDO:2100105", "NCIT:C45525", "SCTID:368009", "UMLS:C0018824", "icd11.foundation:1121431779"]}
{"category": ["biolink:Disease"], "description": "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.", "id": "MONDO:0002870", "name": "Tricuspid valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["insufficiency, tricuspid", "tricuspid insufficiency", "tricuspid valve regurgitation"], "xref": ["DOID:4080", "MEDGEN:11911", "MESH:D014262", "NANDO:2200301", "NCIT:C50842", "SCTID:111287006", "UMLS:C0040961", "icd11.foundation:770887951"]}
{"category": ["biolink:Disease"], "description": "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.", "id": "MONDO:0002871", "name": "Testicular trophoblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular trophoblastic tumor"], "xref": ["DOID:4084", "GARD:0023283", "MEDGEN:272844", "NCIT:C39934", "UMLS:C1515301"]}
{"category": ["biolink:Disease"], "description": "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.", "id": "MONDO:0002872", "name": "Trophoblastic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of trophoblast", "trophoblast neoplasm", "trophoblast neoplasm (disease)", "trophoblast tumor", "trophoblast tumour", "trophoblastic neoplasm", "trophoblastic neoplasm (morphologic abnormality)", "trophoblastic neoplasm NOS (morphologic abnormality)", "trophoblastic neoplasms", "trophoblastic tumor", "trophoblastic tumor (qualifier value)", "trophoblastic tumour", "trophoblastic tumour (qualifier value)", "tumor of trophoblast", "tumour of trophoblast"], "xref": ["DOID:4085", "MEDGEN:21708", "MESH:D014328", "NCIT:C3422", "UMLS:C0041182"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.", "id": "MONDO:0002874", "name": "Testicular pure germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular Pure germ cell tumor", "testicular Pure germ cell tumour"], "xref": ["DOID:4087", "GARD:0023284", "MEDGEN:308089", "NCIT:C39915", "UMLS:C1514608"]}
{"category": ["biolink:Disease"], "description": "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.", "id": "MONDO:0002875", "name": "Parasitic ectoparasitic infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4110", "ICD10CM:B85-B89", "MEDGEN:3964", "MESH:D004478", "UMLS:C0013578"]}
{"category": ["biolink:Disease"], "description": "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.", "id": "MONDO:0002876", "name": "Cervical adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenosarcoma of the cervix uteri", "adenosarcoma of uterine cervix", "cervical Mullerian adenosarcoma", "cervical Müllerian adenosarcoma", "cervical adenosarcoma", "uterine cervix adenosarcoma"], "xref": ["DOID:4111", "GARD:0020492", "MEDGEN:308948", "NCIT:C40229", "Orphanet:213792", "SCTID:764847000", "UMLS:C1516426"]}
{"category": ["biolink:Disease"], "description": "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.", "id": "MONDO:0002877", "name": "Cervical carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinosarcoma of the cervix uteri", "cervical carcinosarcoma", "cervical malignant Mullerian mixed tumor", "cervical malignant Mullerian mixed tumour", "cervical malignant Müllerian mixed tumor", "cervical malignant Müllerian mixed tumour", "cervical malignant mixed Mullerian tumour", "cervical malignant mixed mesodermal (Mullerian) tumor", "cervical malignant mixed mesodermal (Mullerian) tumour", "cervical malignant mixed mesodermal (Müllerian) tumor", "cervical malignant mixed mesodermal (Müllerian) tumour", "cervical malignant mixed mesodermal mullerian tumour", "malignant Mullerian mixed tumor of the cervix uteri", "malignant Mullerian mixed tumour of the cervix uteri", "malignant Müllerian mixed tumor of the cervix uteri", "malignant Müllerian mixed tumour of the cervix uteri", "uterine cervix carcinosarcoma"], "xref": ["DOID:4112", "GARD:0020491", "MEDGEN:232338", "NCIT:C36097", "Orphanet:213787", "SCTID:764951002", "UMLS:C1332917"]}
{"category": ["biolink:Disease"], "description": "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.", "id": "MONDO:0002878", "name": "Uterine corpus adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenosarcoma of body of uterus", "adenosarcoma of the body of uterus", "adenosarcoma of the corpus uteri", "adenosarcoma of the uterine body", "adenosarcoma of the uterine corpus", "adenosarcoma of uterine body", "adenosarcoma of uterine corpus", "body of uterus adenosarcoma", "uterine body adenosarcoma", "uterine corpus Mullerian adenosarcoma", "uterine corpus Müllerian adenosarcoma", "uterine corpus adenosarcoma", "uterine corpus mullerian adenosarcoma"], "xref": ["DOID:4113", "GARD:0020473", "MEDGEN:237042", "MESH:C538232", "NCIT:C6336", "ONCOTREE:UAS", "Orphanet:213600", "UMLS:C1336917"]}
{"category": ["biolink:Disease"], "description": "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.", "id": "MONDO:0002879", "name": "Uterine body mixed cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant body of uterus mixed neoplasm", "malignant body of uterus mixed tumor", "malignant body of uterus mixed tumour", "malignant corpus uteri mixed neoplasm", "malignant corpus uteri mixed tumor", "malignant corpus uteri mixed tumour", "malignant mixed neoplasm of body of uterus", "malignant mixed neoplasm of corpus uteri", "malignant mixed neoplasm of the body of uterus", "malignant mixed neoplasm of the corpus uteri", "malignant mixed neoplasm of the uterine body", "malignant mixed neoplasm of the uterine corpus", "malignant mixed neoplasm of uterine body", "malignant mixed neoplasm of uterine corpus", "malignant mixed tumor of body of uterus", "malignant mixed tumor of corpus uteri", "malignant mixed tumor of the body of uterus", "malignant mixed tumor of the corpus uteri", "malignant mixed tumor of the uterine body", "malignant mixed tumor of the uterine corpus", "malignant mixed tumor of uterine body", "malignant mixed tumor of uterine corpus", "malignant mixed tumour of body of uterus", "malignant mixed tumour of corpus uteri", "malignant mixed tumour of the body of uterus", "malignant mixed tumour of the corpus uteri", "malignant mixed tumour of the uterine body", "malignant mixed tumour of the uterine corpus", "malignant mixed tumour of uterine body", "malignant mixed tumour of uterine corpus", "malignant uterine body mixed neoplasm", "malignant uterine body mixed tumor", "malignant uterine body mixed tumour", "malignant uterine corpus mixed epithelial and mesenchymal neoplasm", "malignant uterine corpus mixed tumor", "malignant uterine corpus mixed tumour"], "xref": ["DOID:4114", "GARD:0023285", "MEDGEN:233163", "NCIT:C6311", "UMLS:C1334628"]}
{"category": ["biolink:Disease"], "description": "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.", "id": "MONDO:0002880", "name": "Ovarian adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosarcoma of ovary", "ovarian Mullerian adenosarcoma", "ovarian Müllerian adenosarcoma", "ovarian adenosarcoma", "ovarian mesodermal adenosarcoma", "ovarian mullerian adenosarcoma", "ovary adenosarcoma"], "xref": ["DOID:4115", "GARD:0023286", "MEDGEN:277458", "NCIT:C7317", "UMLS:C1335169"]}
{"category": ["biolink:Disease"], "description": "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.", "id": "MONDO:0002881", "name": "Vaginal adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenosarcoma of vagina", "vagina adenosarcoma", "vaginal Mullerian adenosarcoma", "vaginal Müllerian adenosarcoma", "vaginal adenosarcoma"], "xref": ["DOID:4117", "MEDGEN:274378", "NCIT:C40277", "UMLS:C1519914"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0002882", "name": "Colon neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["colon NET", "colon neuroendocrine neoplasm", "colon neuroendocrine tumor", "colon neuroendocrine tumor, well differentiated, low or intermediate grade", "colon neuroendocrine tumour", "colonic neuroendocrine neoplasm", "colonic neuroendocrine tumour", "neuroendocrine neoplasm of colon", "neuroendocrine neoplasm of the colon"], "xref": ["DOID:4118", "GARD:0019755", "MEDGEN:234162", "NCIT:C5697", "Orphanet:100080", "UMLS:C1333097", "icd11.foundation:144503516"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0002883", "name": "Intestinal neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["intestinal neuroendocrine neoplasm", "intestine NET", "intestine neuroendocrine neoplasm", "intestine neuroendocrine tumor", "intestine neuroendocrine tumor, well differentiated, low or intermediate grade", "intestine neuroendocrine tumour", "neuroendocrine neoplasm of intestine", "neuroendocrine neoplasm of the intestine"], "xref": ["DOID:4119", "GARD:0023287", "MEDGEN:233567", "NCIT:C5695", "UMLS:C1334231"]}
{"category": ["biolink:Disease"], "description": "A disease involving the nail.", "id": "MONDO:0002884", "name": "Nail disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of nail", "disease or disorder of nail", "disorder of nail", "nail disease", "nail disease or disorder"], "xref": ["DOID:4123", "ICD9:703", "ICD9:703.8", "ICD9:703.9", "MEDGEN:10171", "MESH:D009260", "SCTID:17790008", "UMLS:C0027339"]}
{"category": ["biolink:Disease"], "description": "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.", "id": "MONDO:0002885", "name": "Erythrasma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4131", "ICD10CM:L08.1", "ICD9:041.85", "MEDGEN:4529", "MESH:D004894", "SCTID:264207005", "UMLS:C0014752", "icd11.foundation:272312002"]}
{"category": ["biolink:Disease"], "description": "A disease involving the common bile duct.", "id": "MONDO:0002886", "name": "Common bile duct disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["common bile duct disease", "common bile duct disease or disorder", "disease of common bile duct", "disease or disorder of common bile duct", "disorder of common bile duct"], "xref": ["DOID:4137", "MEDGEN:3545", "MESH:D003137", "UMLS:C0009440"]}
{"category": ["biolink:Disease"], "description": "A disease involving the bile duct.", "id": "MONDO:0002887", "name": "Bile duct disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bile duct disease", "bile duct disease or disorder", "bile duct disorder", "disease of bile duct", "disease or disorder of bile duct", "disorder of bile duct"], "xref": ["DOID:4138", "MEDGEN:2240", "MESH:D001649", "NCIT:C96716", "SCTID:118926004", "UMLS:C0005395"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the intraorbital structures.", "id": "MONDO:0002888", "name": "Intraorbital meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:4141", "GARD:0023288", "MEDGEN:272773", "NCIT:C6778", "UMLS:C1334261"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the orbit.", "id": "MONDO:0002889", "name": "Orbital cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of orbit of skull", "malignant neoplasm of orbit", "malignant neoplasm of orbit of skull", "malignant neoplasm of the orbit", "malignant orbit neoplasm", "malignant orbit of skull neoplasm", "malignant orbit tumor", "malignant orbit tumour", "malignant orbital neoplasm", "malignant orbital tumor", "malignant orbital tumour", "malignant tumor of orbit", "malignant tumor of the orbit", "malignant tumour of orbit", "malignant tumour of the orbit", "orbit of skull cancer"], "xref": ["DOID:4143", "EFO:0007408", "GARD:0023289", "ICD10CM:C69.6", "ICD9:190.1", "ICD9:239.89", "MEDGEN:56314", "NCIT:C3562", "SCTID:127003006", "UMLS:C0153626", "icd11.foundation:1872149350"]}
{"category": ["biolink:Disease"], "description": "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..", "id": "MONDO:0002892", "name": "Skull base chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chordoma of skull base", "chordoma of the skull base", "skull base chordoma"], "xref": ["DOID:4151", "GARD:0023290", "MEDGEN:233448", "NCIT:C5453", "UMLS:C1335975"]}
{"category": ["biolink:Disease"], "description": "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.", "id": "MONDO:0002894", "name": "Spinal chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chordoma of spinal column", "chordoma of spine", "chordoma of the spinal column", "spinal Chordomas", "spinal chordoma", "spinal column chordoma"], "xref": ["DOID:4153", "EFO:1000543", "GARD:0023291", "MEDGEN:347800", "NCIT:C5156", "UMLS:C1859101"]}
{"category": ["biolink:Disease"], "description": "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.", "id": "MONDO:0002896", "name": "Primary syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["early syphilis, symptomatic"], "xref": ["DOID:4156", "GARD:0027623", "ICD9:091", "MEDGEN:419772", "MESH:C536772", "NCIT:C128412", "SCTID:186846005", "UMLS:C2931317"]}
{"category": ["biolink:Disease"], "description": "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.", "id": "MONDO:0002897", "name": "Secondary syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:4157", "GARD:0023292", "ICD9:091.89", "ICD9:091.9", "MEDGEN:101776", "MESH:C536773", "NCIT:C128413", "SCTID:240557004", "UMLS:C0149985"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the zone of skin", "id": "MONDO:0002898", "name": "Skin cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of zone of skin", "malignant neoplasm of skin", "malignant neoplasm of the skin", "malignant neoplasm of zone of skin", "malignant skin neoplasm", "malignant skin tumor", "malignant skin tumour", "malignant tumor of skin", "malignant tumor of the skin", "malignant tumour of skin", "malignant tumour of the skin", "malignant zone of skin neoplasm", "melanoma and non-melanoma skin cancer", "skin cancer", "skin cancer, Including melanoma", "skin neoplasm, malignant", "zone of skin cancer"], "xref": ["DOID:4159", "ICD10CM:C43-C44", "ICD9:173.8", "ICD9:173.9", "MEDGEN:40101", "NCIT:C2920", "SCTID:372130007", "UMLS:C0007114", "icd11.foundation:1706880799"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.", "id": "MONDO:0002899", "name": "Differentiating neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["differentiating neuroblastoma"], "xref": ["DOID:4160", "GARD:0023293", "MEDGEN:268734", "NCIT:C42048", "UMLS:C1511934"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma arising from the cerebral hemispheres.", "id": "MONDO:0002900", "name": "Cerebral neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral hemispheric neuroblastoma", "cerebral neuroblastoma, PNET", "neuroblastoma of cerebral hemispheres", "neuroblastoma of telencephalon", "neuroblastoma of the cerebral hemispheres", "neuroblastoma of the cerebrum", "telencephalon neuroblastoma"], "xref": ["DOID:0080905", "DOID:4164", "GARD:0023294", "MEDGEN:107851", "NCIT:C4826", "SCTID:281560004", "UMLS:C0559458"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002901", "name": "Blood group incompatibility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["CSP:0440-3703", "DOID:4176", "MEDGEN:609", "UMLS:C0005806"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).", "id": "MONDO:0002903", "name": "Articulation disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phonological disorder"], "xref": ["DOID:4186", "ICD9:315.39", "MEDGEN:2081", "MESH:D001184", "NCIT:C92564", "SCTID:386701004", "UMLS:C0003910"]}
{"category": ["biolink:Disease"], "description": "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.", "id": "MONDO:0002904", "name": "Echolalia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["echolalia", "echolalia (disease)"], "xref": ["DOID:4188", "HP:0010529", "MEDGEN:8532", "MESH:D004454", "UMLS:C0013528", "icd11.foundation:928818606"]}
{"category": ["biolink:Disease"], "description": "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.", "id": "MONDO:0002905", "name": "Mutism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mutism", "mutism (disease)"], "xref": ["DOID:4189", "HP:0002300", "MEDGEN:6476", "MESH:D009155", "UMLS:C0026884", "icd11.foundation:1275861519"]}
{"category": ["biolink:Disease"], "description": "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.", "id": "MONDO:0002907", "name": "Intracranial thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4193", "ICD9:434.0", "ICD9:434.00", "MEDGEN:199820", "MESH:D020767", "SCTID:71444005", "UMLS:C0752143"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder characterized by abnormal blood glucose levels.", "id": "MONDO:0002908", "name": "Glucose metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of glucose metabolism", "glucose metabolism disorder"], "xref": ["DOID:4194", "EFO:0009406", "ICD9:271.8", "MEDGEN:226229", "MESH:D044882", "NCIT:C53655", "SCTID:126877002", "UMLS:C1257958"]}
{"category": ["biolink:Disease"], "description": "Abnormally high level of glucose in the blood.", "id": "MONDO:0002909", "name": "Hyperglycemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4195", "ICD9:790.6", "MEDGEN:5689", "MESH:D006943", "SCTID:80394007", "UMLS:C0020456"]}
{"category": ["biolink:Disease"], "description": "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)", "id": "MONDO:0002910", "name": "Peroneal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peroneal neuropathy"], "xref": ["DOID:4201", "GARD:0023296", "MEDGEN:148182", "MESH:D020427", "NCIT:C27596", "UMLS:C0747533"]}
{"category": ["biolink:Disease"], "description": "A neuroglial tumor that arises from the brain stem.", "id": "MONDO:0002911", "name": "Brain stem glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brain stem glioma", "brain stem neuroglial neoplasm", "brain stem neuroglial tumor", "brain stem neuroglial tumour", "brainstem glioma", "brainstem malignant glioma", "brainstem neuroglial neoplasm", "brainstem neuroglial tumor", "brainstem neuroglial tumour", "diffuse brainstem glioma", "glioma of brain stem", "glioma of brainstem", "glioma of the brain stem", "glioma of the brainstem", "malignant glioma of brainstem"], "xref": ["DOID:4202", "EFO:1000142", "GARD:0023297", "MEDGEN:195650", "NCIT:C8501", "SCTID:444545003", "UMLS:C0677865"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the brain stem.", "id": "MONDO:0002912", "name": "Brainstem cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brainstem cancer", "cancer of brainstem", "malignant neoplasm of brain stem", "malignant neoplasm of brainstem", "malignant neoplasm of the brain stem", "malignant neoplasm of the brainstem", "malignant tumor of brain stem", "malignant tumor of brainstem", "malignant tumor of the brain stem", "malignant tumor of the brainstem", "malignant tumour of brain stem", "malignant tumour of brainstem", "malignant tumour of the brain stem", "malignant tumour of the brainstem"], "xref": ["DOID:4203", "GARD:0027624", "ICD10CM:C71.7", "ICD9:191.7", "MEDGEN:57566", "MESH:D020295", "NCIT:C3570", "SCTID:363473003", "UMLS:C0153641", "icd11.foundation:1866135359"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003", "id": "MONDO:0002913", "name": "Cerebellar neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebellar neoplasm", "cerebellar tumor", "cerebellar tumour", "cerebellum neoplasm", "cerebellum neoplasm (disease)", "cerebellum tumor", "cerebellum tumour", "neoplasm of cerebellum", "neoplasm of the cerebellum", "tumor of cerebellum", "tumor of the cerebellum", "tumour of cerebellum", "tumour of the cerebellum"], "xref": ["DOID:4205", "MEDGEN:40187", "MESH:D002528", "NCIT:C2935", "SCTID:126960003", "UMLS:C0007762"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that affects the brain stem and occurs during childhood.", "id": "MONDO:0002914", "name": "Childhood brain stem neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brainstem cancer of childhood", "childhood brain stem neoplasm", "childhood brain stem tumor", "childhood brain stem tumour", "childhood brainstem cancer", "childhood brainstem neoplasm", "childhood brainstem tumor", "childhood brainstem tumour", "childhood neoplasm of brain stem", "childhood neoplasm of brainstem", "childhood neoplasm of the brain stem", "childhood neoplasm of the brainstem", "childhood tumor of brain stem", "childhood tumor of brainstem", "childhood tumor of the brain stem", "childhood tumor of the brainstem", "childhood tumour of brain stem", "childhood tumour of brainstem", "childhood tumour of the brain stem", "childhood tumour of the brainstem", "paediatric brain stem neoplasm", "paediatric brain stem tumour", "paediatric brainstem cancer", "paediatric brainstem neoplasm", "paediatric brainstem tumour", "paediatric neoplasm of brain stem", "paediatric neoplasm of brainstem", "paediatric neoplasm of the brain stem", "paediatric neoplasm of the brainstem", "paediatric tumour of brain stem", "paediatric tumour of brainstem", "paediatric tumour of the brain stem", "paediatric tumour of the brainstem", "pediatric brain stem neoplasm", "pediatric brain stem tumor", "pediatric brainstem cancer", "pediatric brainstem neoplasm", "pediatric brainstem tumor", "pediatric neoplasm of brain stem", "pediatric neoplasm of brainstem", "pediatric neoplasm of the brain stem", "pediatric neoplasm of the brainstem", "pediatric tumor of brain stem", "pediatric tumor of brainstem", "pediatric tumor of the brain stem", "pediatric tumor of the brainstem"], "xref": ["DOID:4206", "GARD:0027625", "MEDGEN:272459", "NCIT:C5969", "UMLS:C1332951"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that affects the infratentorial region of the brain and occurs during childhood.", "id": "MONDO:0002915", "name": "Childhood infratentorial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood infratentorial neoplasm", "childhood infratentorial neoplasms", "childhood infratentorial tumor", "childhood infratentorial tumors", "childhood infratentorial tumour", "childhood infratentorial tumours", "infratentorial neoplasm of childhood", "paediatric infratentorial neoplasm", "paediatric infratentorial tumour", "pediatric infratentorial neoplasm", "pediatric infratentorial tumor"], "xref": ["DOID:4207", "MEDGEN:232349", "NCIT:C5802", "UMLS:C1332973"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.", "id": "MONDO:0002916", "name": "Brainstem intraparenchymal clear cell meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain stem intraparenchymal clear cell meningioma", "intraparenchymal clear cell meningioma of brainstem", "intraparenchymal clear cell meningioma of the brainstem"], "xref": ["DOID:4209", "GARD:0023298", "MEDGEN:231959", "NCIT:C5295", "UMLS:C1332612"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the pilosebaceous unit.", "id": "MONDO:0002917", "name": "Disorder of pilosebaceous unit", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of pilosebaceous unit", "disease or disorder of pilosebaceous unit", "disorder of pilosebaceous unit", "hair and hair follicle diseases", "hair disorder", "hair/hair follicle diseases", "pilosebaceous unit disease", "pilosebaceous unit disease or disorder"], "xref": ["DOID:421", "ICD9:704.8", "ICD9:704.9", "MEDGEN:640417", "MESH:D006201", "NCIT:C34656", "SCTID:201128002", "UMLS:C0554472"]}
{"category": ["biolink:Disease"], "description": "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.", "id": "MONDO:0002918", "name": "Clear cell meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["clear cell meningioma", "clear cell meningioma (morphologic abnormality)"], "xref": ["DOID:4210", "GARD:0023299", "ICDO:9538/1", "MEDGEN:98459", "NCIT:C4722", "ONCOTREE:CCM", "UMLS:C0431121"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the posterior cranial fossa.", "id": "MONDO:0002919", "name": "Posterior cranial fossa meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of posterior cranial fossa", "meningioma of posterior cranial fossa", "meningioma of the posterior cranial fossa", "posterior cranial fossa meningioma (disease)"], "xref": ["DOID:4211", "GARD:0023300", "MEDGEN:290609", "NCIT:C6775", "UMLS:C1565950"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.", "id": "MONDO:0002920", "name": "Malignant ovarian brenner tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant Brenner tumor of ovary", "malignant Brenner tumor of the ovary", "malignant Brenner tumour of ovary", "malignant Brenner tumour of the ovary", "malignant ovarian Brenner tumor", "ovarian Brenner tumor, malignant"], "xref": ["DOID:4217", "GARD:0023301", "ICDO:9000/3", "MEDGEN:90793", "NCIT:C4270", "UMLS:C0334495"]}
{"category": ["biolink:Disease"], "description": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.", "id": "MONDO:0002921", "name": "Congenital structural myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:422", "GARD:0023302", "MEDGEN:156050", "MESH:D020914", "NANDO:1200482", "NANDO:2200867", "NCIT:C84648", "UMLS:C0752282"]}
{"category": ["biolink:Disease"], "description": "Any skin disease that is pyegenic.", "id": "MONDO:0002922", "name": "Pyoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4223", "ICD10CM:L08.0", "ICD9:686.0", "ICD9:686.00", "ICD9:686.09", "MEDGEN:18783", "MESH:D011711", "SCTID:70759006", "UMLS:C0034212", "icd11.foundation:1991248382"]}
{"category": ["biolink:Disease"], "description": "A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.", "id": "MONDO:0002923", "name": "Uterine corpus endometrial stromal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus endometrial stromal sarcoma", "body of uterus endometrioid stromal sarcoma", "endometrioid stromal sarcoma of body of uterus", "uterine corpus endometrial stromal sarcoma", "uterine corpus endometrial stromal tumour", "uterine corpus ess"], "xref": ["DOID:4227", "GARD:0023303", "MEDGEN:275553", "NCIT:C40219", "UMLS:C1519849"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from smooth muscle.", "id": "MONDO:0002924", "name": "Smooth muscle cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of smooth muscle", "cancer of the smooth muscle", "malignant neoplasm of smooth muscle", "malignant neoplasm of the smooth muscle", "malignant smooth muscle neoplasm", "malignant smooth muscle tumor", "malignant smooth muscle tumour", "malignant tumor of the smooth muscle", "malignant tumour of smooth muscle", "malignant tumour of the smooth muscle"], "xref": ["DOID:4230", "NCIT:C6511"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.", "id": "MONDO:0002926", "name": "Clear cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chordoid sarcoma", "clear cell sarcoma (morphologic abnormality)", "clear cell sarcoma - not kidney", "clear cell sarcoma of soft parts", "clear cell sarcoma of soft tissue", "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)", "malignant melanoma of the soft parts", "melanoma, malignant, of soft parts"], "xref": ["DOID:4233", "EFO:0008498", "GARD:0023304", "ICD9:171.9", "ICDO:9044/3", "MEDGEN:104909", "MESH:D018227", "NANDO:2200062", "NCIT:C3745", "ONCOTREE:CCS", "SCTID:402561003", "UMLS:C0206651"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.", "id": "MONDO:0002927", "name": "Spindle cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spindle cell sarcoma"], "xref": ["DOID:4235", "ICDO:8801/3", "MEDGEN:64477", "NCIT:C27005", "UMLS:C0205945"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.", "id": "MONDO:0002928", "name": "Carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinosarcoma", "carcinosarcoma, malignant", "malignant mixed Mullerian tumour", "malignant mixed mesodermal (mullerian) tumour", "mesodermal mixed tumor (morphologic abnormality)", "mesodermal mixed tumour", "mesodermal mixed tumour (morphologic abnormality)", "mixed mesodermal (mullerian) tumour", "mullerian mixed tumor (morphologic abnormality)", "mullerian mixed tumour", "mullerian mixed tumour (morphologic abnormality)"], "xref": ["DOID:4236", "GARD:0006966", "ICDO:8980/3", "MEDGEN:2876", "MESH:D002296", "NCIT:C34448", "UMLS:C0007140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002929", "name": "Pulmonary immaturity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["primary atelectasis of newborn"], "xref": ["DOID:424", "ICD10CM:P28.0", "ICD9:770.4", "MEDGEN:542574", "SCTID:42908004", "UMLS:C0270163"]}
{"category": ["biolink:Disease"], "description": "A sarcoma involving a kidney.", "id": "MONDO:0002930", "name": "Kidney sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["kidney sarcoma", "renal sarcoma", "sarcoma of kidney", "sarcoma of the kidney"], "xref": ["DOID:4242", "GARD:0023305", "ICD9:189.0", "MEDGEN:87548", "NCIT:C4525", "SCTID:254918001", "UMLS:C0346251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002931", "name": "Conjunctivochalasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4250", "ICD10CM:H11.82", "ICD9:372.81", "MEDGEN:678824", "SCTID:408663001", "UMLS:C0878693", "icd11.foundation:870876723"]}
{"category": ["biolink:Disease"], "description": "Abnormally high bone density.", "id": "MONDO:0002933", "name": "Osteosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4254", "MEDGEN:10502", "MESH:D010026", "NANDO:2201022", "NCIT:C41236", "SCTID:49347007", "UMLS:C0029464", "icd11.foundation:2061303143"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.", "id": "MONDO:0002934", "name": "Intravascular angioleiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intravascular angioleiomyoma", "intravascular angiomyoma"], "xref": ["DOID:4266", "MEDGEN:233577", "NCIT:C5355", "UMLS:C1334267"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.", "id": "MONDO:0002935", "name": "Penis basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basal cell carcinoma of the penis", "penile basal cell cancer", "penile basal cell carcinoma", "penis skin basal cell carcinoma", "skin basal cell carcinoma of penis", "skin of penis skin basal cell carcinoma"], "xref": ["DOID:4277", "GARD:0023306", "MEDGEN:275349", "NCIT:C39961", "UMLS:C1518949"]}
{"category": ["biolink:Disease"], "description": "A scrotal carcinoma that involves the basal cell.", "id": "MONDO:0002936", "name": "Scrotum basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basal cell carcinoma of scrotum", "basal cell scrotal carcinoma", "scrotal basal cell carcinoma", "scrotum skin basal cell carcinoma", "skin basal cell carcinoma of scrotum"], "xref": ["DOID:4278", "MEDGEN:233437", "NCIT:C6386", "UMLS:C1335934"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.", "id": "MONDO:0002937", "name": "Nodular basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Nodulo-ulcerative basal cell carcinoma", "Rodent Ulcer", "basal cell carcinoma, nodular (morphologic abnormality)", "skin nodulo-ulcerative basal cell carcinoma"], "xref": ["DOID:4280", "MEDGEN:908229", "NCIT:C5568", "SCTID:403910009", "UMLS:C4083056"]}
{"category": ["biolink:Disease"], "description": "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.", "id": "MONDO:0002938", "name": "Metatypical basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4281", "ICDO:8095/3", "NCIT:C66903", "SCTID:254702000"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.", "id": "MONDO:0002939", "name": "Skin pigmented basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pigmented basal cell carcinoma", "skin pigmented basal cell carcinoma"], "xref": ["DOID:4282", "MEDGEN:237149", "NCIT:C9359", "SCTID:403909004", "UMLS:C1368275"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.", "id": "MONDO:0002940", "name": "Anal margin basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal margin basal cell carcinoma", "basal cell carcinoma of anal margin", "basal cell carcinoma of perianal skin", "basal cell carcinoma of the anal margin", "basal cell carcinoma of the perianal skin", "perianal skin basal cell carcinoma", "perianal skin skin basal cell carcinoma", "skin basal cell carcinoma of perianal skin"], "xref": ["DOID:4283", "GARD:0023307", "ICD10CM:C44.510", "MEDGEN:231371", "NCIT:C7473", "UMLS:C1332269"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the perianal skin", "id": "MONDO:0002941", "name": "Anal margin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal margin cancer", "anal margin carcinoma", "carcinoma of anal margin", "carcinoma of perianal skin", "carcinoma of the anal margin", "perianal skin carcinoma"], "xref": ["DOID:4284", "GARD:0027626", "MEDGEN:87604", "NCIT:C7472", "UMLS:C0349534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002942", "name": "Sebaceous basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4286", "MEDGEN:83180", "NCIT:C4346", "UMLS:C0334683"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma that arises from the skin of the external ear.", "id": "MONDO:0002943", "name": "External ear basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basal cell carcinoma of external Ear", "basal cell carcinoma of the external Ear", "basal cell carcinoma of the external ear", "basal cell external ear carcinoma", "external Ear basal cell carcinoma", "external ear skin basal cell carcinoma", "skin basal cell carcinoma of external ear"], "xref": ["DOID:4287", "GARD:0023308", "MEDGEN:234239", "NCIT:C6082", "UMLS:C1333491"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the external ear", "id": "MONDO:0002944", "name": "External ear carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of external Ear", "carcinoma of external ear", "carcinoma of the external Ear", "carcinoma of the external ear", "external Ear carcinoma", "external ear carcinoma"], "xref": ["DOID:4288", "MEDGEN:272600", "NCIT:C6081", "UMLS:C1333492"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.", "id": "MONDO:0002945", "name": "Micronodular basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skin micronodular basal cell carcinoma"], "xref": ["DOID:4289", "MEDGEN:234567", "NCIT:C27541", "SCTID:402529002", "UMLS:C1367861"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired occlusion of an opening in any part of the female genital tract.", "id": "MONDO:0002946", "name": "Gynatresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "xref": ["DOID:429", "GARD:0027627", "MEDGEN:42316", "MESH:D006175", "NCIT:C84743", "UMLS:C0018414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002947", "name": "Adamantinoid basal cell epithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adamantinoid basal cell carcinoma", "skin adamantinoid basal cell carcinoma"], "xref": ["DOID:4290", "MEDGEN:227004", "NCIT:C7585", "SCTID:402524007", "UMLS:C1304295"]}
{"category": ["biolink:Disease"], "description": "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.", "id": "MONDO:0002948", "name": "Skin fibroepithelial basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pinkus tumor", "Pinkus tumour", "fibroepithelioma of Pinkus", "fibroepithelioma of Pinkus type"], "xref": ["DOID:4291", "ICDO:8093/3", "MEDGEN:87529", "NCIT:C4109", "SCTID:254703005", "UMLS:C0346013"]}
{"category": ["biolink:Disease"], "description": "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.", "id": "MONDO:0002949", "name": "Morpheaform basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basal cell carcinoma sclerosing type", "morphea-type (sclerosing) basal cell carcinoma", "morphea-type basal cell carcinoma", "morpheaform basal cell carcinoma", "sclerosing type basal cell carcinoma", "skin morphea-type (sclerosing) basal cell carcinoma"], "xref": ["DOID:4292", "MEDGEN:107825", "NCIT:C27182", "SCTID:403913006", "UMLS:C0555191"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.", "id": "MONDO:0002950", "name": "Skin clear cell basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell basal cell carcinoma", "skin clear cell basal cell carcinoma"], "xref": ["DOID:4293", "MEDGEN:275752", "NCIT:C27536", "UMLS:C1516599"]}
{"category": ["biolink:Disease"], "description": "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.", "id": "MONDO:0002951", "name": "Skin adenoid basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoid basal cell carcinoma", "skin adenoid basal cell carcinoma"], "xref": ["DOID:4294", "ICDO:8098/3", "MEDGEN:266272", "NCIT:C27535", "SCTID:402525008", "UMLS:C1304296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002952", "name": "Follicular basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skin follicular basal cell carcinoma"], "xref": ["DOID:4295", "MEDGEN:363001", "NCIT:C27538", "SCTID:402526009", "UMLS:C1883723"]}
{"category": ["biolink:Disease"], "description": "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.", "id": "MONDO:0002953", "name": "Skin infiltrative basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infiltrating basal cell carcinoma", "skin infiltrating basal cell carcinoma"], "xref": ["DOID:4299", "ICDO:8092/3", "MEDGEN:87201", "NCIT:C27539", "UMLS:C0334257"]}
{"category": ["biolink:Disease"], "description": "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.", "id": "MONDO:0002954", "name": "Superficial multifocal basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["multicentric basal cell carcinoma", "multifocal superficial basal cell carcinoma", "multifocal superficial basal cell carcinoma (morphologic abnormality)", "superficial multifocal basal cell carcinoma"], "xref": ["DOID:4300", "ICDO:8091/3", "MEDGEN:87200", "NCIT:C4108", "SCTID:403914000", "UMLS:C0334256"]}
{"category": ["biolink:Disease"], "description": "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.", "id": "MONDO:0002955", "name": "Vulva basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["basal cell carcinoma of the vulva", "basal cell carcinoma of vulva", "mammalian vulva skin basal cell carcinoma", "skin basal cell carcinoma of mammalian vulva", "vulvar basal cell cancer", "vulvar basal cell carcinoma"], "xref": ["DOID:4301", "GARD:0022006", "MEDGEN:234481", "NCIT:C6381", "Orphanet:494451", "SCTID:717731002", "UMLS:C1336977", "icd11.foundation:247568702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002956", "name": "Skin cystic basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystic basal cell carcinoma", "skin cystic basal cell carcinoma"], "xref": ["DOID:4302", "MEDGEN:224810", "NCIT:C27537", "SCTID:403912001", "UMLS:C1275193"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002957", "name": "Sarcomatoid basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skin sarcomatoid basal cell carcinoma"], "xref": ["DOID:4303", "MEDGEN:275402", "NCIT:C38111", "UMLS:C1519182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002958", "name": "Signet ring basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["signet Ring cell basal cell carcinoma", "skin signet Ring cell basal cell carcinoma", "skin signet ring cell basal cell carcinoma"], "xref": ["DOID:4304", "MEDGEN:276814", "NCIT:C38110", "UMLS:C1519320"]}
{"category": ["biolink:Disease"], "description": "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.", "id": "MONDO:0002959", "name": "Radiculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nerve root disorder"], "xref": ["DOID:4306", "ICD10CM:M54.1", "MEDGEN:147133", "MESH:D011843", "SCTID:72274001", "UMLS:C0700594", "icd11.foundation:1802542189"]}
{"category": ["biolink:Disease"], "description": "A radiculopathy that is present in more than one nerve.", "id": "MONDO:0002960", "name": "Polyradiculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4307", "ICD9:356.9", "MEDGEN:46011", "MESH:D011128", "NCIT:C34934", "SCTID:75572007", "UMLS:C0032586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0002961", "name": "Large cell acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:4321", "MEDGEN:235249", "NCIT:C27518", "UMLS:C1334362"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.", "id": "MONDO:0002962", "name": "Epidermolytic acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4323", "MEDGEN:272577", "NCIT:C27516", "UMLS:C1333414"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.", "id": "MONDO:0002963", "name": "Acantholytic acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acantholytic acanthoma"], "xref": ["DOID:4324", "MEDGEN:220970", "NCIT:C27517", "UMLS:C1301270"]}
{"category": ["biolink:Disease"], "description": "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).", "id": "MONDO:0002965", "name": "Parovarian cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4333", "MEDGEN:14622", "MESH:D010310", "SCTID:64233004", "UMLS:C0030584"]}
{"category": ["biolink:Disease"], "description": "A prolymphocytic leukemia that involves the spleen.", "id": "MONDO:0002966", "name": "Splenic manifestation of prolymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prolymphocytic leukaemia of spleen", "prolymphocytic leukemia of spleen", "spleen prolymphocytic leukaemia", "spleen prolymphocytic leukemia", "splenic manifestation of prolymphocytic leukemia"], "xref": ["DOID:4334", "GARD:0023310", "MEDGEN:277663", "NCIT:C7297", "UMLS:C1336066"]}
{"category": ["biolink:Disease"], "description": "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.", "id": "MONDO:0002967", "name": "Dermatophytosis of scalp or beard", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatophytosis of scalp and beard", "scalp dermatophytosis", "scalp ringworm"], "xref": ["DOID:4337", "ICD10CM:B35.0", "ICD9:110.0", "MEDGEN:4237", "NCIT:C34536", "SCTID:266148000", "UMLS:C0011640"]}
{"category": ["biolink:Disease"], "description": "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.", "id": "MONDO:0002968", "name": "Lymphocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4347", "ICD9:457.8", "MEDGEN:7414", "MESH:D008210", "SCTID:234110002", "UMLS:C0024248", "icd11.foundation:1806199285"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ciliary body.", "id": "MONDO:0002969", "name": "Ciliary body cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of ciliary body", "ciliary body cancer", "malignant ciliary body neoplasm", "malignant ciliary body tumor", "malignant ciliary body tumour", "malignant neoplasm of ciliary body", "malignant neoplasm of the ciliary body", "malignant tumor of ciliary body", "malignant tumor of the ciliary body", "malignant tumour of ciliary body", "malignant tumour of the ciliary body"], "xref": ["DOID:4352", "ICD10CM:C69.4", "MEDGEN:99219", "NCIT:C4766", "SCTID:188263008", "UMLS:C0496833", "icd11.foundation:2121278989"]}
{"category": ["biolink:Disease"], "description": "A disease involving the ciliary body.", "id": "MONDO:0002970", "name": "Ciliary body disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ciliary body disease", "ciliary body disease or disorder", "ciliary body disorder", "disease of ciliary body", "disease or disorder of ciliary body", "disorder of ciliary body"], "xref": ["DOID:4353", "MEDGEN:124384", "NCIT:C35775", "SCTID:68575007", "UMLS:C0271100"]}
{"category": ["biolink:Disease"], "description": "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.", "id": "MONDO:0002971", "name": "Amelanotic melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["amelanotic melanoma", "amelanotic melanoma (morphologic abnormality)", "melanoma, amelanotic, malignant"], "xref": ["DOID:4359", "EFO:1001937", "ICDO:8730/3", "MEDGEN:64644", "MESH:D018328", "NCIT:C3802", "UMLS:C0206735"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the posterior mediastinum.", "id": "MONDO:0002972", "name": "Posterior mediastinum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of posterior mediastinum", "malignant neoplasm of posterior mediastinum", "malignant posterior mediastinum neoplasm", "posterior mediastinum cancer"], "xref": ["DOID:436", "ICD10CM:C38.2", "ICD9:164.3", "MEDGEN:509314", "SCTID:448670003", "UMLS:C0153502"]}
{"category": ["biolink:Disease"], "description": "A melanoma characterized by the presence of malignant large epithelioid melanocytes.", "id": "MONDO:0002973", "name": "Epithelioid cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelioid cell malignant melanoma", "epithelioid cell melanoma", "epithelioid cell melanoma (morphologic abnormality)", "epithelioid melanoma"], "xref": ["DOID:4360", "ICDO:8771/3", "MEDGEN:137763", "NCIT:C4236", "UMLS:C0334443"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the cervix.", "id": "MONDO:0002974", "name": "Cervical cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of uterine cervix", "cervical cancer, somatic", "malignant cervical neoplasm", "malignant cervical tumor", "malignant cervical tumour", "malignant cervix neoplasm", "malignant cervix tumor", "malignant cervix tumour", "malignant cervix uteri neoplasm", "malignant cervix uteri tumor", "malignant cervix uteri tumour", "malignant neoplasm of cervix", "malignant neoplasm of cervix uteri", "malignant neoplasm of the cervix", "malignant neoplasm of the cervix uteri", "malignant neoplasm of the uterine cervix", "malignant neoplasm of uterine cervix", "malignant tumor of cervix", "malignant tumor of cervix uteri", "malignant tumor of the cervix", "malignant tumor of the cervix uteri", "malignant tumor of the uterine cervix", "malignant tumor of uterine cervix", "malignant tumour of cervix", "malignant tumour of cervix uteri", "malignant tumour of the cervix", "malignant tumour of the cervix uteri", "malignant tumour of the uterine cervix", "malignant tumour of uterine cervix", "malignant uterine cervix neoplasm", "malignant uterine cervix tumor", "malignant uterine cervix tumour", "uterine cervix cancer"], "xref": ["DOID:4362", "ICD10CM:C53", "ICD9:180", "ICD9:180.8", "ICD9:180.9", "MEDGEN:890252", "NCIT:C9311", "OMIM:603956", "SCTID:363354003", "UMLS:C4048328", "icd11.foundation:1256072522"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.", "id": "MONDO:0002975", "name": "Malignant breast melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast melanoma", "breast melanoma (disease)", "malignant breast melanoma", "malignant melanoma of breast", "malignant melanoma of the breast", "melanoma (disease) of breast"], "xref": ["DOID:4364", "MEDGEN:138069", "NCIT:C8410", "SCTID:188050009", "UMLS:C0346787"]}
{"category": ["biolink:Disease"], "description": "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.", "id": "MONDO:0002976", "name": "Stomach diverticulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4370", "MEDGEN:218855", "MESH:D045724", "UMLS:C1148546", "icd11.foundation:953342599"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.", "id": "MONDO:0002977", "name": "Autoimmune disorder of the nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autoimmune disease of nervous system", "autoimmune disease, neurologic", "autoimmune diseases, nervous system", "autoimmune diseases, neurologic", "autoimmune disorders of the nervous system", "autoimmune disorders, nervous system", "autoimmune nervous system diseases", "autoimmune nervous system disorder", "disease, neurologic autoimmune", "diseases, neurologic autoimmune", "immune diseases, nervous system", "immune disorders, nervous system", "nervous system autoimmune disease", "nervous system autoimmune diseases", "nervous system hypersensitivity reaction type II disease", "nervous system immune diseases", "nervous system immune disorders", "neurologic autoimmune disease", "neurologic autoimmune diseases"], "xref": ["DOID:438", "MEDGEN:155946", "MESH:D020274", "NCIT:C99383", "UMLS:C0751871"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.", "id": "MONDO:0002978", "name": "Orbit alveolar rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["alveolar rhabdomyosarcoma of orbit", "alveolar rhabdomyosarcoma of the orbit"], "xref": ["DOID:4384", "GARD:0023311", "MEDGEN:235408", "NCIT:C6247", "UMLS:C1335126"]}
{"category": ["biolink:Disease"], "description": "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.", "id": "MONDO:0002979", "name": "Papillary squamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary epidermoid carcinoma", "papillary epidermoid cell carcinoma", "papillary squamous carcinoma", "papillary squamous cell carcinoma"], "xref": ["DOID:4385", "ICDO:8052/3", "MEDGEN:83115", "NCIT:C4102", "UMLS:C0334244"]}
{"category": ["biolink:Disease"], "description": "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.", "id": "MONDO:0002981", "name": "Peripheral primitive neuroectodermal tumor of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bone peripheral neuroepithelioma", "bone tissue peripheral primitive neuroectodermal tumor", "bone tissue peripheral primitive neuroectodermal tumour", "osseous peripheral neuroepithelioma", "peripheral neuroectodermal tumor of bone", "peripheral neuroectodermal tumor of the bone", "peripheral neuroectodermal tumour of bone", "peripheral neuroectodermal tumour of the bone", "peripheral neuroepithelioma of bone", "peripheral neuroepithelioma of the bone", "peripheral primitive neuroectodermal tumor of bone", "peripheral primitive neuroectodermal tumor of bone tissue", "peripheral primitive neuroectodermal tumour of bone tissue"], "xref": ["DOID:4388", "GARD:0023312", "MEDGEN:163179", "NCIT:C8776", "UMLS:C0855009"]}
{"category": ["biolink:Disease"], "description": "A small round cell tumor with neural differentiation arising from the soft tissues.", "id": "MONDO:0002982", "name": "Peripheral primitive neuroectodermal tumor of soft tissues", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peripheral neuroectodermal tumor of soft tissues", "peripheral neuroectodermal tumor of the soft tissues", "peripheral neuroectodermal tumour of soft tissues", "peripheral neuroectodermal tumour of the soft tissues", "peripheral neuroepithelioma of soft tissues", "peripheral neuroepithelioma of the soft tissues", "peripheral primitive neuroectodermal tumor of soft tissues"], "xref": ["DOID:4389", "GARD:0023313", "MEDGEN:205115", "NCIT:C27471", "UMLS:C1112437"]}
{"category": ["biolink:Disease"], "description": "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003", "id": "MONDO:0002984", "name": "Reticulohistiocytic granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["reticulohistiocytic granuloma (morphologic abnormality)", "solitary Reticulohistiocytoma", "solitary reticulohistiocytoma"], "xref": ["DOID:4394", "GARD:0012967", "ICD9:277.89", "MEDGEN:48431", "NCIT:C3356", "SCTID:404162004", "UMLS:C0035290"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.", "id": "MONDO:0002987", "name": "Spongiotic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4406", "ICD9:692.9", "MEDGEN:120468", "NCIT:C27037", "SCTID:23615008", "UMLS:C0262984"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant tumor of melanocytic origin that arises from the cervix.", "id": "MONDO:0002988", "name": "Cervix melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical melanoma", "melanoma of the cervix"], "xref": ["DOID:4413", "GARD:0009664", "MEDGEN:163764", "NCIT:C40239", "UMLS:C0877611"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.", "id": "MONDO:0002989", "name": "Benign fibrous histiocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign fibrous histiocytoma", "benign fibrous histiocytoma (morphologic abnormality)", "fibrous histiocytoma", "fibrous histiocytoma NOS (morphologic abnormality)", "fibroxanthoma NOS (morphologic abnormality)", "histiocytoma, fibrous, benign"], "xref": ["DOID:4415", "ICDO:8830/0", "MEDGEN:60199", "MESH:D018219", "NCIT:C3739", "UMLS:C0206644", "icd11.foundation:476723055"]}
{"category": ["biolink:Disease"], "description": "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.", "id": "MONDO:0002990", "name": "Benign deep fibrous histiocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign deep fibrous histiocytoma", "deep benign fibrous histiocytoma"], "xref": ["DOID:4419", "MEDGEN:690110", "NCIT:C6492", "UMLS:C1266125"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.", "id": "MONDO:0002991", "name": "Adenocarcinofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinofibroma", "adenofibroma, malignant", "malignant adenofibroma"], "xref": ["DOID:4422", "MEDGEN:266966", "NCIT:C40035", "UMLS:C1510778"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.", "id": "MONDO:0002993", "name": "Pancreatic somatostatinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic somatostatin cell tumour"], "xref": ["DOID:4432", "GARD:0023314", "MEDGEN:235079", "NCIT:C95595", "UMLS:C1368041"]}
{"category": ["biolink:Disease"], "description": "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).", "id": "MONDO:0002994", "name": "Pancreatic delta cell neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic Delta cell NET", "pancreatic Delta cell neoplasm", "pancreatic Delta cell neuroendocrine tumor", "pancreatic Delta cell neuroendocrine tumour", "pancreatic Delta cell tumor", "pancreatic Delta cell tumour", "pancreatic delta cell neoplasm"], "xref": ["DOID:4433", "GARD:0023315", "MEDGEN:233303", "NCIT:C28396", "UMLS:C1335301"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.", "id": "MONDO:0002995", "name": "Small intestine neuroendocrine tumor, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0023316", "MEDGEN:474161", "NCIT:C96061", "UMLS:C3272528"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the cavernous sinus.", "id": "MONDO:0002996", "name": "Cavernous sinus meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cavernous sinus meningioma (disease)", "meningioma (disease) of cavernous sinus", "meningioma of cavernous sinus", "meningioma of the cavernous sinus"], "xref": ["DOID:4435", "GARD:0023317", "MEDGEN:232034", "NCIT:C5268", "UMLS:C1332865"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the anterior cranial fossa.", "id": "MONDO:0002997", "name": "Anterior cranial fossa meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anterior cranial fossa meningioma (disease)", "anterior fossa meningioma", "meningioma (disease) of anterior cranial fossa", "meningioma of anterior cranial fossa", "meningioma of anterior fossa", "meningioma of the anterior cranial fossa", "meningioma of the anterior fossa"], "xref": ["DOID:4436", "GARD:0023318", "MEDGEN:272315", "NCIT:C5286", "UMLS:C1332301"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the skull base.", "id": "MONDO:0002998", "name": "Skull base meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basicranium meningioma (disease)", "meningioma (disease) of basicranium", "meningioma of the skull base", "skull base meningioma"], "xref": ["DOID:4437", "GARD:0023319", "MEDGEN:233449", "NCIT:C5272", "UMLS:C1335976"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)", "id": "MONDO:0002999", "name": "Central nervous system germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["central nervous system germinoma", "central nervous system germinoma (disease)", "germinoma of CNS", "germinoma of central nervous system", "germinoma of the CNS", "germinoma of the central nervous system"], "xref": ["DOID:4438", "GARD:0023320", "MEDGEN:232242", "NCIT:C7009", "UMLS:C1333813"]}
{"category": ["biolink:Disease"], "description": "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.", "id": "MONDO:0003000", "name": "Central nervous system germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS germ cell neoplasm", "CNS germ cell tumor", "CNS germ cell tumour", "central nervous system germ cell neoplasm", "central nervous system germ cell tumor", "central nervous system rare germ cell tumor", "central nervous system rare germ cell tumour", "germ cell neoplasm of CNS", "germ cell neoplasm of central nervous system", "germ cell neoplasm of the CNS", "germ cell neoplasm of the central nervous system", "germ cell tumor of CNS", "germ cell tumor of central nervous system", "germ cell tumor of the CNS", "germ cell tumor of the central nervous system", "germ cell tumour of CNS", "germ cell tumour of central nervous system", "germ cell tumour of the central nervous system"], "xref": ["DOID:4439", "GARD:0023321", "MEDGEN:232040", "NCIT:C5461", "UMLS:C1332880"]}
{"category": ["biolink:Disease"], "description": "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.", "id": "MONDO:0003001", "name": "Seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["seminoma", "seminoma, malignant", "seminoma, pure"], "xref": ["DOID:4440", "GARD:0023322", "ICD9:186.9", "ICDO:9061/3", "MEDGEN:11371", "MESH:D018239", "NCIT:C9309", "ONCOTREE:SEM", "SCTID:443675005", "UMLS:C0036631"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.", "id": "MONDO:0003002", "name": "Dysgerminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dysgerminoma", "dysgerminoma (disease)", "dysgerminoma, malignant"], "xref": ["DOID:4441", "GARD:0023323", "HP:0100621", "ICDO:9060/3", "MEDGEN:41680", "MESH:D004407", "NANDO:2200066", "NCIT:C2996", "UMLS:C0013377", "icd11.foundation:817547820"]}
{"category": ["biolink:Disease"], "description": "An alveolar soft part sarcoma arising from the cervix.", "id": "MONDO:0003003", "name": "Cervical alveolar soft part sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4442", "GARD:0023324", "MEDGEN:273905", "NCIT:C40225", "UMLS:C1516408"]}
{"category": ["biolink:Disease"], "description": "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.", "id": "MONDO:0003004", "name": "Macular degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["macula lutea retinal degeneration", "macula retinal degeneration", "retinal degeneration of macula lutea"], "xref": ["DOID:4448", "EFO:0009606", "MEDGEN:7434", "MESH:D008268", "NCIT:C123330", "SCTID:422338006", "UMLS:C0024437"]}
{"category": ["biolink:Disease"], "description": "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.", "id": "MONDO:0003005", "name": "Macular retinal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["macula lutea retinal edema", "macula lutea retinal oedema", "macular edema", "retinal edema of macula lutea", "retinal oedema of macula lutea"], "xref": ["DOID:4449", "MEDGEN:75732", "NCIT:C35468", "SCTID:37231002", "UMLS:C0271051"]}
{"category": ["biolink:Disease"], "description": "A renal cell carcinoma that occurs during childhood.", "id": "MONDO:0003007", "name": "Childhood kidney cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["childhood kidney cell carcinoma", "childhood renal cell carcinoma", "childhood renal cell carcinoma (disease)", "paediatric kidney cell carcinoma", "paediatric renal cell carcinoma", "paediatric renal cell carcinoma (disease)", "pediatric kidney cell carcinoma", "pediatric renal cell carcinoma", "pediatric renal cell carcinoma (disease)", "renal cell carcinoma (disease) of childhood"], "xref": ["DOID:4454", "GARD:0023325", "MEDGEN:232070", "NCIT:C6568", "UMLS:C1333001"]}
{"category": ["biolink:Disease"], "description": "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0003008", "name": "Hereditary renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary renal cell cancer", "hereditary renal cell carcinoma", "hereditary renal cell carcinoma (disease)"], "xref": ["DOID:4455", "GARD:0023326", "MEDGEN:392857", "MESH:C536851", "NCIT:C39789", "SCTID:717736007", "UMLS:C2608055"]}
{"category": ["biolink:Disease"], "description": "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.", "id": "MONDO:0003009", "name": "Hyperaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:446", "EFO:0009452", "ICD10CM:E26", "ICD10WHO:E26", "ICD9:255.1", "ICD9:255.10", "MEDGEN:6960", "MESH:D006929", "SCTID:88213004", "UMLS:C0020428", "icd11.foundation:1937534076"]}
{"category": ["biolink:Disease"], "description": "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.", "id": "MONDO:0003010", "name": "Multilocular clear cell renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MCRCC", "multilocular clear cell adenocarcinoma", "multilocular clear cell carcinoma", "multilocular clear cell renal cell adenocarcinoma", "multilocular clear cell renal cell carcinoma", "multilocular cystic clear cell renal cell neoplasm of low malignant potential", "multilocular cystic renal cell adenocarcinoma", "multilocular cystic renal cell cancer", "multilocular cystic renal cell carcinoma", "renal cystadenocarcinoma"], "xref": ["DOID:4463", "GARD:0021417", "ICD9:189.0", "ICDO:8316/3", "MEDGEN:87547", "NCIT:C4524", "Orphanet:319287", "SCTID:254916002", "UMLS:C0346249"]}
{"category": ["biolink:Disease"], "description": "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.", "id": "MONDO:0003011", "name": "Mucinous tubular and spindle renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["carcinoma, renal, tubular, malignant", "mucinous tubular and spindle cell carcinoma of the kidney", "mucinous tubular and spindle cell renal carcinoma"], "xref": ["DOID:4472", "GARD:0021418", "ICDO:0000/0", "MEDGEN:1640204", "NCIT:C39807", "ONCOTREE:MTSCC", "Orphanet:319322", "SCTID:764990003", "UMLS:C4707257"]}
{"category": ["biolink:Disease"], "description": "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.", "id": "MONDO:0003012", "name": "Sarcomatoid renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RCC w/ sarcomatoid features", "renal cell carcinoma with sarcomatoid features", "sarcomatoid renal cell cancer", "sarcomatoid renal cell carcinoma"], "xref": ["DOID:4473", "GARD:0023327", "ICDO:8318/3", "MEDGEN:220411", "NCIT:C27893", "ONCOTREE:SRCC", "UMLS:C1266043"]}
{"category": ["biolink:Disease"], "description": "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.", "id": "MONDO:0003014", "name": "Rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of nasal cavity mucosa", "nasal cavity mucosa inflammation"], "xref": ["DOID:4483", "EFO:0008521", "ICD10CM:J30", "MEDGEN:19782", "MESH:D012220", "NCIT:C34986", "SCTID:70076002", "UMLS:C0035455"]}
{"category": ["biolink:Disease"], "description": "A malignant form of peritoneal solitary fibrous tumor.", "id": "MONDO:0003017", "name": "Malignant peritoneal solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peritoneal solitary fibrous tumor, malignant"], "xref": ["DOID:4490", "GARD:0023328"]}
{"category": ["biolink:Disease"], "description": "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.", "id": "MONDO:0003019", "name": "Potassium deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypokalemia"], "xref": ["DOID:4500", "HP:0002900", "ICD10CM:E87.6", "ICD9:276.8", "MEDGEN:271346", "MESH:D007008", "NCIT:C34939", "SCTID:43339004", "UMLS:C1514284"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the brain, spinal cord or meninges.", "id": "MONDO:0003021", "name": "Central nervous system angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS angiosarcoma", "CNS hemangiosarcoma", "angiosarcoma (disease) of central nervous system", "angiosarcoma of CNS", "angiosarcoma of central nervous system", "angiosarcoma of the CNS", "angiosarcoma of the central nervous system", "central nervous system angiosarcoma", "central nervous system angiosarcoma (disease)", "central nervous system hemangiosarcoma", "hemangiosarcoma of CNS", "hemangiosarcoma of central nervous system", "hemangiosarcoma of the CNS", "hemangiosarcoma of the central nervous system"], "xref": ["DOID:4504", "GARD:0023329", "MEDGEN:272441", "NCIT:C5450", "UMLS:C1332875"]}
{"category": ["biolink:Disease"], "description": "An angiosarcoma occurring in childhood.", "id": "MONDO:0003022", "name": "Pediatric angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of childhood", "childhood angiosarcoma", "childhood angiosarcoma (disease)", "childhood hemangiosarcoma", "paediatric angiosarcoma (disease)", "pediatric angiosarcoma", "pediatric angiosarcoma (disease)", "pediatric hemangiosarcoma"], "xref": ["DOID:4505", "GARD:0023330", "MEDGEN:124687", "NCIT:C9174", "UMLS:C0279988"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the aorta.", "id": "MONDO:0003023", "name": "Aorta angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of aorta", "angiosarcoma of aorta", "angiosarcoma of the aorta", "aorta angiosarcoma (disease)", "aortic angiosarcoma", "aortic hemangiosarcoma", "hemangiosarcoma of aorta", "hemangiosarcoma of the aorta"], "xref": ["DOID:4510", "GARD:0023331", "MEDGEN:231071", "NCIT:C5376", "UMLS:C1332312"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the breast.", "id": "MONDO:0003024", "name": "Breast angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angiosarcoma (disease) of breast", "angiosarcoma of breast", "angiosarcoma of the breast", "breast angiosarcoma", "breast angiosarcoma (disease)", "breast hemangiosarcoma", "hemangiosarcoma of breast", "hemangiosarcoma of the breast"], "xref": ["DOID:4511", "GARD:0009974", "MEDGEN:272382", "MESH:C536368", "NCIT:C5184", "ONCOTREE:BA", "UMLS:C1332614", "icd11.foundation:2050477809"]}
{"category": ["biolink:Disease"], "description": "An angiosarcoma characterized by the presence of malignant spindle endothelial cells.", "id": "MONDO:0003025", "name": "Conventional angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["conventional angiosarcoma"], "xref": ["DOID:4512", "GARD:0023332", "MEDGEN:234174", "NCIT:C9426", "UMLS:C1333155"]}
{"category": ["biolink:Disease"], "description": "An angiosarcoma that is located in the gallbladder.", "id": "MONDO:0003026", "name": "Gallbladder angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of gall bladder", "angiosarcoma of gallbladder", "angiosarcoma of the gallbladder", "gall bladder angiosarcoma (disease)", "gallbladder angiosarcoma", "gallbladder hemangiosarcoma", "hemangiosarcoma of gallbladder", "hemangiosarcoma of the gallbladder"], "xref": ["DOID:4513", "GARD:0023333", "MEDGEN:232222", "NCIT:C5840", "UMLS:C1333742"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.", "id": "MONDO:0003027", "name": "Thyroid gland angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of thyroid gland", "angiosarcoma of the thyroid", "angiosarcoma of the thyroid gland", "angiosarcoma of thyroid", "angiosarcoma of thyroid gland", "hemangiosarcoma of the thyroid", "hemangiosarcoma of the thyroid gland", "hemangiosarcoma of thyroid", "hemangiosarcoma of thyroid gland", "thyroid angiosarcoma", "thyroid gland angiosarcoma", "thyroid gland angiosarcoma (disease)", "thyroid gland hemangiosarcoma", "thyroid gland malignant hemangioendothelioma", "thyroid hemangiosarcoma"], "xref": ["DOID:4514", "GARD:0023334", "MEDGEN:277819", "NCIT:C6043", "UMLS:C1336748"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm primarily involving the thyroid gland.", "id": "MONDO:0003028", "name": "Thyroid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sarcoma of the thyroid", "sarcoma of the thyroid gland", "sarcoma of thyroid", "sarcoma of thyroid gland", "thyroid gland sarcoma", "thyroid sarcoma"], "xref": ["DOID:4515", "GARD:0023335", "MEDGEN:234950", "NCIT:C6041", "UMLS:C1336756"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the skin.", "id": "MONDO:0003029", "name": "Skin angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angiosarcoma (disease) of zone of skin", "angiosarcoma of skin", "angiosarcoma of the skin", "hemangiosarcoma of skin", "hemangiosarcoma of the skin", "skin angiosarcoma", "skin hemangiosarcoma", "zone of skin angiosarcoma (disease)"], "xref": ["DOID:4517", "GARD:0023336", "MEDGEN:87535", "NCIT:C4489", "SCTID:254794007", "UMLS:C0346081"]}
{"category": ["biolink:Disease"], "description": "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.", "id": "MONDO:0003030", "name": "Endometrioid stromal sarcoma of the cervix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endometrioid stromal sarcoma of the cervix", "endometrioid stromal sarcoma of uterine cervix", "uterine cervix endometrioid stromal sarcoma"], "xref": ["DOID:4520", "GARD:0023337", "MEDGEN:770966", "NCIT:C40220", "UMLS:C3642326"]}
{"category": ["biolink:Disease"], "description": "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.", "id": "MONDO:0003031", "name": "Endometrioid stromal and related neoplasms of the cervix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrioid stromal and related neoplasms of the cervix", "endometrioid stromal and related tumors of the cervix", "endometrioid stromal and related tumours of the cervix"], "xref": ["DOID:4521", "MEDGEN:927118", "NCIT:C40218", "UMLS:C4289586"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the superior vena cava.", "id": "MONDO:0003032", "name": "Superior vena cava angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of anterior vena cava", "angiosarcoma of Superior vena cava", "angiosarcoma of the Superior vena cava", "anterior vena cava angiosarcoma (disease)"], "xref": ["DOID:4522", "GARD:0023338", "MEDGEN:234373", "NCIT:C5378", "UMLS:C1336530"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the prostate.", "id": "MONDO:0003033", "name": "Prostate angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angiosarcoma (disease) of prostate gland", "angiosarcoma of prostate", "angiosarcoma of the prostate", "hemangiosarcoma of prostate", "hemangiosarcoma of the prostate", "prostate angiosarcoma", "prostate gland angiosarcoma (disease)", "prostate hemangiosarcoma", "prostatic angiosarcoma", "prostatic hemangiosarcoma"], "xref": ["DOID:4524", "GARD:0023339", "MEDGEN:235498", "NCIT:C5528", "UMLS:C1335504"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the mediastinum.", "id": "MONDO:0003034", "name": "Mediastinum angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiosarcoma (disease) of mediastinum", "angiosarcoma of mediastinum", "angiosarcoma of the mediastinum", "hemangiosarcoma of mediastinum", "hemangiosarcoma of the mediastinum", "mediastinal angiosarcoma", "mediastinal hemangiosarcoma", "mediastinum angiosarcoma (disease)"], "xref": ["DOID:4525", "GARD:0023340", "MEDGEN:233676", "NCIT:C6613", "UMLS:C1334649"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm arising from the ovary.", "id": "MONDO:0003035", "name": "Ovarian angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["angiosarcoma (disease) of ovary", "angiosarcoma of ovary", "angiosarcoma of the ovary", "hemangiosarcoma of ovary", "hemangiosarcoma of the ovary", "ovarian hemangiosarcoma", "ovary angiosarcoma (disease)"], "xref": ["DOID:4527", "GARD:0023341", "MEDGEN:233805", "NCIT:C5232", "UMLS:C1335152"]}
{"category": ["biolink:Disease"], "description": "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.", "id": "MONDO:0003036", "name": "Mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEC", "mucoepidermoid carcinoma", "mucoepidermoid carcinoma (morphologic abnormality)", "mucoepidermoid tumor", "mucoepidermoid tumour"], "xref": ["DOID:163", "DOID:4531", "GARD:0010671", "ICDO:8430/1", "ICDO:8430/3", "MEDGEN:61662", "MESH:D018277", "MESH:D018298", "NCIT:C3772", "ONCOTREE:MUCC", "UMLS:C0206694", "icd11.foundation:287052516"]}
{"category": ["biolink:Disease"], "description": "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.", "id": "MONDO:0003037", "name": "Hypotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4535", "ICD9:704.09", "MEDGEN:6993", "MESH:D007039", "NCIT:C34720", "OMIMPS:605389", "SCTID:53602002", "UMLS:C0020678"]}
{"category": ["biolink:Disease"], "description": "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)", "id": "MONDO:0003038", "name": "Dysgraphia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dysgraphia", "dysgraphia (disease)"], "xref": ["DOID:4540", "HP:0010526", "MEDGEN:115942", "NCIT:C182452", "UMLS:C0234144"]}
{"category": ["biolink:Disease"], "description": "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.", "id": "MONDO:0003039", "name": "Nominal aphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anomic aphasia (finding)"], "xref": ["DOID:4541", "MEDGEN:312", "MESH:D000849", "UMLS:C0003113"]}
{"category": ["biolink:Disease"], "description": "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.", "id": "MONDO:0003040", "name": "Retrograde amnesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4543", "ICD10CM:R41.2", "MEDGEN:264", "MESH:D000648", "UMLS:C0002624", "icd11.foundation:1405777748"]}
{"category": ["biolink:Disease"], "description": "A mesenchymal chondrosarcoma occurring in children.", "id": "MONDO:0003041", "name": "Pediatric mesenchymal chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood mesenchymal chondrosarcoma", "mesenchymal chondrosarcoma of childhood", "pediatric mesenchymal chondrosarcoma"], "xref": ["DOID:4546", "GARD:0023342", "MEDGEN:232063", "NCIT:C27374", "UMLS:C1332982"]}
{"category": ["biolink:Disease"], "description": "A mesenchymal chondrosarcoma occurring in adults.", "id": "MONDO:0003042", "name": "Adult mesenchymal chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult mesenchymal chondrosarcoma", "mesenchymal chondrosarcoma of adults"], "xref": ["DOID:4547", "GARD:0023343", "MEDGEN:272296", "NCIT:C27375", "UMLS:C1332207"]}
{"category": ["biolink:Disease"], "description": "Tumors or cancer of the anal gland.", "id": "MONDO:0003045", "name": "Anal gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gland of anal canal neoplasm", "gland of anal canal neoplasm (disease)", "gland of anal canal tumor", "gland of anal canal tumour", "neoplasm of gland of anal canal", "tumor of gland of anal canal", "tumour of gland of anal canal"], "xref": ["DOID:4550", "MEDGEN:1897", "MESH:D000694", "UMLS:C0002757"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.", "id": "MONDO:0003046", "name": "Anus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anal neoplasm", "anal neoplasms, benign and malignant", "anal tumor", "anal tumors", "anal tumour", "anal tumours", "anus neoplasm", "anus neoplasm (disease)", "anus tumor", "anus tumour", "neoplasm of anus", "neoplasm of the anus", "tumor of anus", "tumor of the anus", "tumour of anus", "tumour of the anus"], "xref": ["DOID:4551", "EFO:0003835", "MEDGEN:360", "MESH:D001005", "NCIT:C2877", "SCTID:126849006", "UMLS:C0003463"]}
{"category": ["biolink:Disease"], "description": "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.", "id": "MONDO:0003047", "name": "Thymic large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["large cell neuroendocrine carcinoma of Thymus", "large cell neuroendocrine carcinoma of the Thymus", "large cell neuroendocrine carcinoma of thymus", "thymic LCNEC", "thymic large cell neuroendocrine carcinoma", "thymus large cell carcinoma", "thymus large cell neuroendocrine carcinoma"], "xref": ["DOID:4553", "GARD:0023344", "MEDGEN:235250", "NCIT:C6461", "UMLS:C1334364"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.", "id": "MONDO:0003049", "name": "Ovarian large-cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["large cell neuroendocrine carcinoma of ovary", "large cell neuroendocrine carcinoma of the ovary", "large-cell neuroendocrine carcinoma of ovary", "large-cell neuroendocrine carcinoma of the ovary", "non-small-cell type neuroendocrine carcinoma of ovary", "non-small-cell type neuroendocrine carcinoma of the ovary", "ovarian large cell NEC", "ovarian large cell neuroendocrine carcinoma", "ovarian non-small-cell type neuroendocrine carcinoma", "ovary large cell neuroendocrine carcinoma"], "xref": ["DOID:4555", "GARD:0023345", "MEDGEN:233809", "NCIT:C5238", "UMLS:C1335174"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.", "id": "MONDO:0003050", "name": "Lung large cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaplastic lung carcinoma", "large cell carcinoma of lung", "large cell carcinoma of the lung", "large cell lung cancer", "large cell lung carcinoma", "large cell undifferentiated lung carcinoma", "lung large cell carcinoma"], "xref": ["DOID:4556", "EFO:0003050", "ICD9:162.9", "MEDGEN:91060", "NCIT:C4450", "ONCOTREE:LCLC", "SCTID:254629004", "UMLS:C0345958"]}
{"category": ["biolink:Disease"], "description": "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.", "id": "MONDO:0003051", "name": "Non specific chronic endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non specific chronic endometritis"], "xref": ["DOID:4560", "MEDGEN:235394", "NCIT:C27625", "UMLS:C1335061"]}
{"category": ["biolink:Disease"], "description": "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.", "id": "MONDO:0003052", "name": "Granulomatous endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granulomatous endometritis"], "xref": ["DOID:4561", "MEDGEN:234322", "NCIT:C27626", "UMLS:C1333876"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the choroid plexus.", "id": "MONDO:0003053", "name": "Choroid plexus meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choroid meningioma (morphologic abnormality)", "choroid plexus meningioma", "choroid plexus meningioma (disease)", "meningioma (disease) of choroid plexus", "meningioma of the choroid plexus"], "xref": ["DOID:4584", "GARD:0023346", "MEDGEN:98458", "NCIT:C4719", "UMLS:C0431118"]}
{"category": ["biolink:Disease"], "description": "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.", "id": "MONDO:0003054", "name": "Benign meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign meningioma (WHO grade I)", "meningioma (disease), benign"], "xref": ["DOID:4587", "GARD:0023347", "MEDGEN:129095", "NCIT:C4055", "SCTID:724171006", "UMLS:C0281784"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.", "id": "MONDO:0003055", "name": "Secretory meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["secretory meningioma", "secretory meningioma (morphologic abnormality)"], "xref": ["DOID:4588", "GARD:0023348", "MEDGEN:277998", "NCIT:C4718", "UMLS:C1384406"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.", "id": "MONDO:0003056", "name": "Lymphoplasmacyte-rich meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoplasmacyte-rich meningioma", "lymphoplasmocyte-rich meningioma (morphologic abnormality)"], "xref": ["DOID:4591", "GARD:0023349", "MEDGEN:140907", "NCIT:C4720", "UMLS:C0431119"]}
{"category": ["biolink:Disease"], "description": "A meningioma that occurs during childhood.", "id": "MONDO:0003057", "name": "Pediatric meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood meningioma", "childhood meningioma (disease)", "meningioma (disease) of childhood", "paediatric meningioma (disease)", "pediatric meningioma", "pediatric meningioma (disease)"], "xref": ["DOID:4593", "GARD:0023350", "MEDGEN:79156", "NANDO:2200094", "NCIT:C8264", "UMLS:C0280656"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.", "id": "MONDO:0003058", "name": "Microcystic meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["microcystic meningioma", "microcystic meningioma (morphologic abnormality)"], "xref": ["DOID:4594", "GARD:0023351", "MEDGEN:234616", "NCIT:C4721", "UMLS:C1384408"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the bile duct", "id": "MONDO:0003059", "name": "Bile duct cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bile duct cancer", "cancer of bile duct", "malignant bile duct neoplasm", "malignant neoplasm of bile duct"], "xref": ["DOID:4606", "GARD:0023352"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the biliary tree", "id": "MONDO:0003060", "name": "Biliary tract cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["biliary tree cancer", "cancer of biliary tree", "malignant biliary tree neoplasm", "malignant neoplasm of biliary tree", "malignant tumor of biliary tract"], "xref": ["DOID:4607", "GARD:0005924", "ICD9:156.9", "MEDGEN:155474", "UMLS:C0750952"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.", "id": "MONDO:0003061", "name": "Benign muscle neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign muscle neoplasm", "benign muscle tumor", "benign muscle tumour", "benign neoplasm of muscle", "benign tumor of muscle", "benign tumor of the muscle", "benign tumour of muscle", "benign tumour of the muscle", "myoma"], "xref": ["DOID:2691", "DOID:461", "ICDO:8895/0", "MEDGEN:10236", "MESH:D009214", "NCIT:C4882", "UMLS:C0027086"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the intestine.", "id": "MONDO:0003062", "name": "Intestinal benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign intestinal neoplasm", "benign intestinal neoplasms", "benign intestinal tumor", "benign intestinal tumors", "benign intestinal tumour", "benign intestinal tumours", "benign intestine neoplasm", "benign intestine tumor", "benign intestine tumour", "benign neoplasm of intestines", "benign neoplasm of the intestines", "benign neoplasms of large and/or small intestine", "benign neoplasms of the large and/or small intestine", "benign tumor of intestines", "benign tumor of the intestines", "benign tumour of intestines", "benign tumour of the intestines", "intestinal neoplasms, benign", "intestinal tumors, benign", "intestine benign neoplasm"], "xref": ["MEDGEN:91124", "NCIT:C4609", "SCTID:92151003", "UMLS:C0347269"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.", "id": "MONDO:0003064", "name": "Inverted transitional cell papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inverted transitional cell papilloma"], "xref": ["DOID:4630", "ICDO:8121/1", "MEDGEN:1790412", "NCIT:C4118", "UMLS:C5551359"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.", "id": "MONDO:0003065", "name": "Nasal cavity inverting papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inverting papilloma of nasal cavity", "inverting papilloma of the nasal cavity", "nasal cavity Schneiderian papilloma, inverted type", "nasal cavity inverted papilloma"], "xref": ["DOID:4633", "MEDGEN:79106", "NCIT:C8194", "UMLS:C0280336"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the submandibular lymph nodes.", "id": "MONDO:0003066", "name": "Submandibular adenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphadenitis (disease) of submandibular gland", "submandibular gland lymphadenitis (disease)", "submandibular lymphadenitis"], "xref": ["DOID:4636", "MEDGEN:66723", "NCIT:C27016", "SCTID:15170009", "UMLS:C0235591"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the cervical lymph nodes.", "id": "MONDO:0003067", "name": "Cervical lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphadenitis (disease) of neck", "neck lymphadenitis (disease)"], "xref": ["DOID:4637", "MEDGEN:101763", "NCIT:C26937", "SCTID:3502005", "UMLS:C0149642"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the postauricular lymph nodes.", "id": "MONDO:0003068", "name": "Postauricular lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphadenitis (disease) of mastoid lymph node", "mastoid lymph node lymphadenitis (disease)"], "xref": ["DOID:4638", "MEDGEN:183076", "NCIT:C27332", "UMLS:C0919638"]}
{"category": ["biolink:Disease"], "description": "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.", "id": "MONDO:0003069", "name": "Suppurative lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4639", "ICD9:457.8", "MEDGEN:140258", "NCIT:C27135", "SCTID:48573006", "UMLS:C0392051", "icd11.foundation:1183198544"]}
{"category": ["biolink:Disease"], "description": "An infection of the lymph nodes in the axilla.", "id": "MONDO:0003070", "name": "Axillary lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["axilla lymphadenitis (disease)", "axillary lymphadenitis", "lymphadenitis (disease) of axilla"], "xref": ["DOID:4640", "MEDGEN:182522", "NCIT:C27333", "UMLS:C0919797"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the retina.", "id": "MONDO:0003072", "name": "Retinal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of retina", "malignant neoplasm of retina", "malignant neoplasm of the retina", "malignant retina neoplasm", "malignant retina tumor", "malignant retina tumour", "malignant retinal neoplasm", "malignant retinal tumor", "malignant retinal tumour", "malignant tumor of retina", "malignant tumor of the retina", "malignant tumour of retina", "malignant tumour of the retina", "retina cancer"], "xref": ["DOID:4645", "EFO:0005716", "ICD10CM:C69.2", "ICD9:190.5", "MEDGEN:6192", "MESH:D019572", "NCIT:C3216", "SCTID:363465007", "UMLS:C0024622", "icd11.foundation:1758820365"]}
{"category": ["biolink:Disease"], "description": "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).", "id": "MONDO:0003073", "name": "Trilateral retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4647", "GARD:0023353", "MEDGEN:392856", "NCIT:C7019", "UMLS:C2608045"]}
{"category": ["biolink:Disease"], "description": "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.", "id": "MONDO:0003075", "name": "Bilateral retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4650", "GARD:0023354", "MEDGEN:163163", "NANDO:2201038", "NCIT:C8713", "UMLS:C0854914"]}
{"category": ["biolink:Disease"], "description": "A retinoblastoma that only involves a single eye.", "id": "MONDO:0003076", "name": "Unilateral retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:4651", "GARD:0023355", "MEDGEN:208929", "NCIT:C8714", "UMLS:C0854915"]}
{"category": ["biolink:Disease"], "description": "Retinoblastoma restricted to local involvement.", "id": "MONDO:0003077", "name": "Intraocular retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intraocular retinoblastoma"], "xref": ["DOID:4653", "GARD:0023356", "MEDGEN:78874", "NCIT:C7846", "UMLS:C0278717"]}
{"category": ["biolink:Disease"], "description": "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.", "id": "MONDO:0003078", "name": "Extraocular retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extraocular retinoblastoma", "metastatic retinoblastoma"], "xref": ["DOID:4656", "GARD:0023357", "MEDGEN:75861", "NCIT:C7848", "UMLS:C0278719"]}
{"category": ["biolink:Disease"], "description": "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.", "id": "MONDO:0003079", "name": "Mastocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["mastocytoma"], "xref": ["GARD:0023358", "ICD9:238.5", "ICDO:9740/1", "MEDGEN:6237", "MESH:D034801", "NCIT:C9303", "SCTID:404171008", "UMLS:C0024897"]}
{"category": ["biolink:Disease"], "description": "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.", "id": "MONDO:0003081", "name": "Thalamic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of dorsal plus ventral thalamus", "disease or disorder of dorsal plus ventral thalamus", "disorder of dorsal plus ventral thalamus", "dorsal plus ventral thalamus disease", "dorsal plus ventral thalamus disease or disorder"], "xref": ["DOID:4662", "MEDGEN:52693", "MESH:D013786", "NCIT:C85186", "UMLS:C0039726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003082", "name": "Filamentary keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4664", "ICD10CM:H16.12", "ICD9:370.23", "MEDGEN:509773", "SCTID:51286002", "UMLS:C0155077", "icd11.foundation:942510664"]}
{"category": ["biolink:Disease"], "description": "A rare slow growing benign tumor of aberrant and ectatic venous connections.", "id": "MONDO:0003083", "name": "Venous hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Venous angioma", "Venous malformation"], "xref": ["DOID:467", "ICD9:228.09", "ICDO:9122/0", "MEDGEN:90801", "NCIT:C4296", "SCTID:403968005", "UMLS:C0334532"]}
{"category": ["biolink:Disease"], "description": "Neuropathy resulting from uremia.", "id": "MONDO:0003084", "name": "Uremic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4675", "GARD:0023359", "ICD9:357.4", "MEDGEN:75707", "NCIT:C27055", "SCTID:11659006", "UMLS:C0268708"]}
{"category": ["biolink:Disease"], "description": "A corneal disease that is characterized by inflammation of the cornea.", "id": "MONDO:0003085", "name": "Keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cornea inflammation", "inflammation of cornea"], "xref": ["DOID:4677", "EFO:0009449", "ICD10CM:H16", "ICD10WHO:H16", "ICD9:370", "ICD9:370.8", "ICD9:370.9", "MEDGEN:44013", "MESH:D007634", "NCIT:C26805", "SCTID:5888003", "UMLS:C0022568"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.", "id": "MONDO:0003086", "name": "Thymic mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymus mucoepidermoid carcinoma", "mucoepidermoid carcinoma of Thymus", "mucoepidermoid carcinoma of the Thymus", "thymic mucoepidermoid carcinoma", "thymus mucoepidermoid carcinoma"], "xref": ["DOID:4678", "GARD:0023360", "MEDGEN:277383", "NCIT:C6457", "UMLS:C1334814"]}
{"category": ["biolink:Disease"], "description": "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.", "id": "MONDO:0003087", "name": "Mucoepidermoid breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast mucoepidermoid carcinoma", "mucoepidermoid breast carcinoma", "mucoepidermoid carcinoma of breast", "mucoepidermoid carcinoma of the breast"], "xref": ["DOID:4679", "GARD:0023361", "MEDGEN:233721", "NCIT:C5166", "UMLS:C1334813"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from skeletal muscle.", "id": "MONDO:0003088", "name": "Intramuscular hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intramuscular angioma", "intramuscular hemangioma (morphologic abnormality)"], "xref": ["DOID:468", "ICDO:9132/0", "MEDGEN:61450", "NCIT:C3699", "UMLS:C0205789"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.", "id": "MONDO:0003089", "name": "Extrahepatic bile duct mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct mucoepidermoid carcinoma", "extrahepatic bile duct mucoepidermoid carcinoma", "mucoepidermoid carcinoma of bile duct", "mucoepidermoid carcinoma of the bile duct"], "xref": ["DOID:4681", "GARD:0023362", "MEDGEN:272368", "NCIT:C5862", "UMLS:C1332552"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the extrahepatic bile duct.", "id": "MONDO:0003090", "name": "Extrahepatic bile duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of extrahepatic bile duct", "carcinoma of the extrahepatic bile duct", "extrahepatic bile duct cancer", "extrahepatic bile duct carcinoma"], "xref": ["DOID:4682", "GARD:0023363", "MEDGEN:116036", "NCIT:C3860", "SCTID:372101000", "UMLS:C0238019"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that involves the zone of skin.", "id": "MONDO:0003091", "name": "Cutaneous mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["zone of skin mucoepidermoid carcinoma"], "xref": ["DOID:4683", "GARD:0023364", "MEDGEN:91072", "NCIT:C4472", "SCTID:254713002", "UMLS:C0346019"]}
{"category": ["biolink:Disease"], "description": "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.", "id": "MONDO:0003092", "name": "Lacrimal gland mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lacrimal gland mucoepidermoid carcinoma", "mucoepidermoid carcinoma of lacrimal gland", "mucoepidermoid carcinoma of the lacrimal gland"], "xref": ["DOID:4685", "GARD:0023365", "MEDGEN:235248", "NCIT:C6091", "UMLS:C1334359"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)", "id": "MONDO:0003093", "name": "Mucoepidermoid esophageal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophagus mucoepidermoid carcinoma", "mucoepidermoid carcinoma of the esophagus", "mucoepidermoid carcinoma of the oesophagus", "oesophagus mucoepidermoid carcinoma"], "xref": ["DOID:4686", "GARD:0023366", "MEDGEN:234232", "NCIT:C5343", "UMLS:C1333461"]}
{"category": ["biolink:Disease"], "description": "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.", "id": "MONDO:0003095", "name": "Laryngeal mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal mucoepidermoid carcinoma", "laryngeal throat mucoepidermoid cancer", "larynx mucoepidermoid carcinoma", "mucoepidermoid carcinoma of larynx", "mucoepidermoid carcinoma of the larynx"], "xref": ["DOID:4688", "GARD:0023367", "MEDGEN:272792", "NCIT:C9463", "UMLS:C1334373"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the deep soft tissues.", "id": "MONDO:0003096", "name": "Deep hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deep angioma", "deep hemangioma"], "xref": ["DOID:469", "MEDGEN:232421", "NCIT:C6555", "UMLS:C1333265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003097", "name": "Childhood mediastinal neurogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood mediastinal neurogenic neoplasm", "childhood mediastinal neurogenic tumor", "childhood neurogenic neoplasm of mediastinum", "childhood neurogenic neoplasm of the mediastinum", "childhood neurogenic tumor of mediastinum", "childhood neurogenic tumor of the mediastinum", "childhood neurogenic tumour of mediastinum", "childhood neurogenic tumour of the mediastinum", "paediatric mediastinal neurogenic neoplasm", "paediatric mediastinal neurogenic tumour", "paediatric neurogenic neoplasm of mediastinum", "paediatric neurogenic neoplasm of the mediastinum", "paediatric neurogenic tumour of the mediastinum", "pediatric mediastinal neurogenic neoplasm", "pediatric mediastinal neurogenic tumor", "pediatric neurogenic neoplasm of mediastinum", "pediatric neurogenic neoplasm of the mediastinum", "pediatric neurogenic tumor of mediastinum", "pediatric neurogenic tumor of the mediastinum"], "xref": ["DOID:4690", "MEDGEN:234134", "NCIT:C5429", "UMLS:C1332981"]}
{"category": ["biolink:Disease"], "description": "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.", "id": "MONDO:0003098", "name": "Mediastinal neural neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mediastinal neural neoplasm", "mediastinal neural tumor", "mediastinal neural tumour", "mediastinal neurogenic neoplasm", "mediastinal neurogenic tumor", "mediastinal neurogenic tumour", "neurogenic neoplasm of mediastinum", "neurogenic neoplasm of the mediastinum", "neurogenic tumor of mediastinum", "neurogenic tumor of the mediastinum", "neurogenic tumour of mediastinum", "neurogenic tumour of the mediastinum"], "xref": ["DOID:4691", "MEDGEN:277353", "NCIT:C6624", "UMLS:C1334672"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the nerve plexus.", "id": "MONDO:0003100", "name": "Nerve plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neoplasm of nerve plexus", "neoplasm of the nerve plexus", "nerve plexus neoplasm", "nerve plexus neoplasm (disease)", "nerve plexus neoplasms", "nerve plexus tumor", "nerve plexus tumors", "nerve plexus tumour", "nerve plexus tumours", "neural plexus neoplasms", "neural plexus tumors", "neural plexus tumours", "tumor of nerve plexus", "tumor of the nerve plexus", "tumour of nerve plexus", "tumour of the nerve plexus"], "xref": ["DOID:4693", "GARD:0023368", "MEDGEN:235366", "NCIT:C5822", "UMLS:C1334945"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.", "id": "MONDO:0003103", "name": "Nerve root neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of nerve Root", "neoplasm of nerve root", "neoplasm of the nerve Root", "neoplasms, nerve Root", "nerve Root neoplasms", "nerve Root tumor", "nerve Root tumors", "nerve Root tumour", "nerve Root tumours", "nerve root neoplasm (disease)", "nerve root tumor", "nerve root tumour", "tumor of nerve Root", "tumor of nerve root", "tumor of the nerve Root", "tumour of nerve Root", "tumour of nerve root", "tumour of the nerve Root"], "xref": ["DOID:4698", "MEDGEN:233753", "NCIT:C5119", "UMLS:C1334946"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the epicardium.", "id": "MONDO:0003104", "name": "Epicardium cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of epicardium", "epicardium cancer", "malignant epicardial neoplasm", "malignant epicardial tumor", "malignant epicardial tumour", "malignant epicardium neoplasm", "malignant neoplasm of epicardium", "malignant neoplasm of the epicardium", "malignant tumor of epicardium", "malignant tumor of the epicardium", "malignant tumour of epicardium", "malignant tumour of the epicardium"], "xref": ["DOID:4699", "GARD:0027628", "MEDGEN:388560", "NCIT:C4568", "UMLS:C2607932"]}
{"category": ["biolink:Disease"], "description": "A disease involving the prostate gland.", "id": "MONDO:0003105", "name": "Prostate disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of prostate gland", "disease or disorder of prostate gland", "disorder of prostate gland", "prostate disease", "prostate disorder", "prostate gland disease", "prostate gland disease or disorder"], "xref": ["DOID:47", "EFO:0009602", "ICD9:602.8", "ICD9:602.9", "MEDGEN:10964", "MESH:D011469", "NCIT:C26865", "SCTID:30281009", "UMLS:C0033575"]}
{"category": ["biolink:Disease"], "description": "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.", "id": "MONDO:0003107", "name": "Infratentorial cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infratentorial neoplasms, malignant", "malignant infratentorial neoplasm", "malignant infratentorial tumor", "malignant infratentorial tumors", "malignant infratentorial tumour", "malignant infratentorial tumours"], "xref": ["DOID:4706", "GARD:0027629", "MEDGEN:199689", "MESH:D015192", "NCIT:C4966", "UMLS:C0751593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003108", "name": "Cervicomedullary junction neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervicomedullary junction neoplasms", "cervicomedullary junction tumor", "cervicomedullary junction tumour", "neoplasm of cervicomedullary junction", "neoplasm of the cervicomedullary junction", "tumor of cervicomedullary junction", "tumor of the cervicomedullary junction", "tumour of cervicomedullary junction", "tumour of the cervicomedullary junction"], "xref": ["DOID:4707", "MEDGEN:272453", "NCIT:C5423", "UMLS:C1332923"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the foramen magnum.", "id": "MONDO:0003109", "name": "Foramen magnum meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["foramen magnum meningioma (disease)", "meningioma (disease) of foramen magnum", "meningioma of Foramen magnum", "meningioma of the Foramen magnum"], "xref": ["DOID:4708", "GARD:0023369", "MEDGEN:232512", "NCIT:C5280", "UMLS:C1333630"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the skin.", "id": "MONDO:0003110", "name": "Skin hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioma of skin", "angioma of the skin", "hemangioma of skin", "hemangioma of the skin", "hemangioma of zone of skin", "skin angioma", "skin hemangioma", "zone of skin hemangioma"], "xref": ["DOID:471", "MEDGEN:151951", "NCIT:C4905", "SCTID:93471006", "UMLS:C0687140"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0003111", "name": "Gastric neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NET of stomach", "gastric neuroendocrine neoplasm", "neuroendocrine neoplasm of stomach", "neuroendocrine neoplasm of the stomach", "neuroendocrine tumour of the stomach", "stomach NET", "stomach neuroendocrine neoplasm", "stomach neuroendocrine tumor", "stomach neuroendocrine tumor, well differentiated, low or intermediate grade", "stomach neuroendocrine tumour"], "xref": ["DOID:4715", "GARD:0019750", "MEDGEN:232548", "NCIT:C5696", "Orphanet:100075", "SCTID:721194008", "UMLS:C1333783"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.", "id": "MONDO:0003112", "name": "Malignant gastric germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant gastric germ cell neoplasm", "malignant gastric germ cell tumor", "malignant germ cell neoplasm of stomach", "malignant germ cell neoplasm of the stomach", "malignant germ cell tumor of stomach", "malignant germ cell tumor of the stomach", "malignant germ cell tumour of stomach", "malignant germ cell tumour of the stomach"], "xref": ["DOID:4716", "GARD:0023370", "MEDGEN:233663", "NCIT:C5486", "UMLS:C1334584"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.", "id": "MONDO:0003113", "name": "Extragonadal germ cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extragonadal germ cell malignant tumour", "extragonadal germ cell tumor, malignant", "malignant extragonadal germ cell tumor", "malignant extragonadal germ cell tumour", "malignant neoplasm of extragonadal germ cell", "malignant neoplasm of the extragonadal germ cell", "malignant tumor of extragonadal germ cell", "malignant tumor of the extragonadal germ cell", "malignant tumour of extragonadal germ cell", "malignant tumour of the extragonadal germ cell"], "xref": ["DOID:4717", "GARD:0023371", "MEDGEN:235292", "NCIT:C8881", "UMLS:C1334581"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the subglottic area.", "id": "MONDO:0003115", "name": "Subglottic hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of subglottis", "angioma of the subglottis", "hemangioma of subglottis", "hemangioma of the subglottis", "subglottic angioma", "subglottic hemangioma", "subglottis angioma", "subglottis hemangioma"], "xref": ["DOID:472", "MEDGEN:234907", "NCIT:C6026", "UMLS:C1336518"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.", "id": "MONDO:0003117", "name": "Somatoform disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["somatoform disorder"], "xref": ["DOID:4737", "EFO:0009687", "ICD9:300.8", "ICD9:306.8", "MEDGEN:20835", "MESH:D013001", "NCIT:C34956", "SCTID:31297008", "UMLS:C0037650"]}
{"category": ["biolink:Disease"], "description": "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.", "id": "MONDO:0003118", "name": "Testicular brenner tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testes, rudimentary Brenner tumor", "testes, rudimentary Brenner tumour", "testis Brenner tumor", "testis Brenner tumour"], "xref": ["DOID:4739", "MEDGEN:273631", "NCIT:C39953", "UMLS:C1515281"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.", "id": "MONDO:0003120", "name": "Mixed testicular germ cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4743", "GARD:0023372", "MEDGEN:237005", "NCIT:C6347", "ONCOTREE:MGCT", "UMLS:C1336720"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the middle cranial fossa.", "id": "MONDO:0003121", "name": "Middle cranial fossa meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of middle cranial fossa", "meningioma of middle cranial fossa", "meningioma of the middle cranial fossa", "middle cranial fossa meningioma (disease)"], "xref": ["DOID:4749", "GARD:0023373", "MEDGEN:277369", "NCIT:C5586", "UMLS:C1334757"]}
{"category": ["biolink:Disease"], "description": "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.", "id": "MONDO:0003122", "name": "Striatonigral degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4751", "GARD:0023374", "ICD10CM:G23.2", "ICD9:333.0", "MEDGEN:124366", "MESH:D020955", "NCIT:C125695", "OMIMPS:271930", "SCTID:29618004", "UMLS:C0270733", "icd11.foundation:195535779"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.", "id": "MONDO:0003124", "name": "Testicular leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Leydig cell neoplasm of testis", "Leydig cell neoplasm of the testis", "Leydig cell tumor of testis", "Leydig cell tumour of testis", "testicular Leydig cell neoplasm", "testicular Leydig cell tumor", "testis Leydig cell tumor", "testis Leydig cell tumour"], "xref": ["DOID:4756", "GARD:0023375", "MEDGEN:163584", "NCIT:C6356", "SCTID:67871000119105", "UMLS:C0863027"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.", "id": "MONDO:0003125", "name": "Testicular sex cord-stromal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sex cord-stromal tumor of testis", "sex cord-stromal tumour of testis", "testicular sex cord-stromal neoplasm", "testicular sex cord-stromal tumor", "testicular sex cord-stromal tumour", "testis sex cord-stromal tumor", "testis sex cord-stromal tumour"], "xref": ["DOID:4757", "GARD:0021551", "MEDGEN:825921", "NCIT:C6358", "Orphanet:363489", "SCTID:702406000", "UMLS:C3840076"]}
{"category": ["biolink:Disease"], "description": "A capillary or cavernous hemangioma arising from the breast.", "id": "MONDO:0003126", "name": "Breast hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of breast", "angioma of the breast", "breast angioma", "breast hemangioma", "hemangioma of breast", "hemangioma of the breast"], "xref": ["DOID:476", "MEDGEN:163122", "NCIT:C5353", "UMLS:C0853715"]}
{"category": ["biolink:Disease"], "description": "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.", "id": "MONDO:0003128", "name": "Classic pulmonary blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["biphasic pulmonary blastoma", "classic pulmonary blastoma"], "xref": ["DOID:4767", "GARD:0023376", "MEDGEN:231445", "NCIT:C36054", "UMLS:C1332556"]}
{"category": ["biolink:Disease"], "description": "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.", "id": "MONDO:0003129", "name": "Epithelial predominant pulmonary blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelial predominant pulmonary blastoma"], "xref": ["DOID:4768", "GARD:0023377", "MEDGEN:234222", "NCIT:C36053", "UMLS:C1333420"]}
{"category": ["biolink:Disease"], "description": "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.", "id": "MONDO:0003130", "name": "Mesoblastic nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesoblastic nephroma", "mesoblastic nephroma (morphologic abnormality)"], "xref": ["DOID:4772", "EFO:0007365", "ICD9:236.99", "MEDGEN:64620", "MESH:D018201", "SCTID:307604008", "UMLS:C0206628"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.", "id": "MONDO:0003133", "name": "Exudative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4777", "GARD:0023378", "MEDGEN:154269", "NCIT:C35706", "UMLS:C0546345"]}
{"category": ["biolink:Disease"], "description": "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.", "id": "MONDO:0003134", "name": "Proliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4778", "GARD:0023379", "ICD9:583.0", "MEDGEN:68617", "NCIT:C35281", "SCTID:441815006", "UMLS:C0235618"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.", "id": "MONDO:0003135", "name": "Focal embolic glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4779", "GARD:0023380", "MEDGEN:65950", "NCIT:C35707", "UMLS:C0238143"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.", "id": "MONDO:0003136", "name": "Anti-basement membrane glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anti-GBM antibody disease", "anti-glomerular basement Membrane antibody disease"], "xref": ["DOID:4780", "GARD:0023381", "MEDGEN:231383", "NANDO:1200717", "NCIT:C35798", "UMLS:C1332309"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.", "id": "MONDO:0003137", "name": "Diffuse glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4781", "GARD:0023382", "MEDGEN:163563", "NCIT:C35799", "UMLS:C0859036"]}
{"category": ["biolink:Disease"], "description": "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.", "id": "MONDO:0003138", "name": "Subacute glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4782", "GARD:0023383", "MEDGEN:266070", "NCIT:C35801", "SCTID:123609007", "UMLS:C1263744"]}
{"category": ["biolink:Disease"], "description": "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.", "id": "MONDO:0003139", "name": "Mesangial proliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:4783", "GARD:0009580", "MEDGEN:66364", "NANDO:1201029", "NANDO:2200122", "NCIT:C35445", "SCTID:35546006", "UMLS:C0221238"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.", "id": "MONDO:0003140", "name": "Immune-complex glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immune Complex glomerulonephritis"], "xref": ["DOID:4784", "GARD:0023384", "ICD9:583.89", "MEDGEN:148168", "NCIT:C35800", "SCTID:123752003", "UMLS:C0744421"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.", "id": "MONDO:0003141", "name": "Cerebellopontine angle embryonal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C-P angle PNET", "C-P angle primitive neuroectodermal neoplasm", "C-P angle primitive neuroectodermal tumor", "C-P angle primitive neuroectodermal tumour", "cerebellar Pontine angle PNET", "cerebellar Pontine angle primitive neuroectodermal neoplasm", "cerebellar Pontine angle primitive neuroectodermal tumor", "cerebellar Pontine angle primitive neuroectodermal tumour", "cerebellopontine angle PNET", "cerebellopontine angle primitive neuroectodermal neoplasm", "cerebellopontine angle primitive neuroectodermal tumor", "cerebellopontine angle primitive neuroectodermal tumour", "primitive neuroectodermal neoplasm of C-P angle", "primitive neuroectodermal neoplasm of cerebellar Pontine angle", "primitive neuroectodermal neoplasm of cerebellopontine angle", "primitive neuroectodermal neoplasm of the C-P angle", "primitive neuroectodermal neoplasm of the cerebellar Pontine angle", "primitive neuroectodermal neoplasm of the cerebellopontine angle", "primitive neuroectodermal tumor of C-P angle", "primitive neuroectodermal tumor of cerebellar Pontine angle", "primitive neuroectodermal tumor of cerebellopontine angle", "primitive neuroectodermal tumor of the C-P angle", "primitive neuroectodermal tumor of the cerebellar Pontine angle", "primitive neuroectodermal tumor of the cerebellopontine angle", "primitive neuroectodermal tumour of C-P angle", "primitive neuroectodermal tumour of cerebellar Pontine angle", "primitive neuroectodermal tumour of cerebellopontine angle", "primitive neuroectodermal tumour of the C-P angle", "primitive neuroectodermal tumour of the cerebellar Pontine angle", "primitive neuroectodermal tumour of the cerebellopontine angle"], "xref": ["DOID:4787", "GARD:0027630", "MEDGEN:232045", "NCIT:C5436", "UMLS:C1332904"]}
{"category": ["biolink:Disease"], "description": "A primitive neuroectodermal tumor that involves the brain.", "id": "MONDO:0003142", "name": "Intracranial primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brain primitive neuroectodermal tumor", "brain primitive neuroectodermal tumour", "intracranial primitive neuroectodermal neoplasm", "primitive neuroectodermal tumor of brain", "primitive neuroectodermal tumour of brain"], "xref": ["DOID:4788", "GARD:0027631", "MEDGEN:577349", "NCIT:C5817", "UMLS:C0346292"]}
{"category": ["biolink:Disease"], "description": "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).", "id": "MONDO:0003143", "name": "Angiokeratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angiokeratoma (morphologic abnormality)", "angiokeratoma of skin", "angiokeratoma of the skin", "cutaneous angiokeratoma", "skin angiokeratoma"], "xref": ["CSP:2007-0683", "DOID:479", "MEDGEN:1542", "MESH:D000794", "NCIT:C2874", "NCIT:C4488", "SCTID:254788004", "UMLS:C0002985", "icd11.foundation:533651286"]}
{"category": ["biolink:Disease"], "description": "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.", "id": "MONDO:0003144", "name": "Medulloepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["central nervous system medulloepithelioma", "medulloepithelioma NOS (morphologic abnormality)", "medulloepithelioma of the central nervous system", "medulloepithelioma, central nervous system"], "xref": ["DOID:4790", "GARD:0020721", "MEDGEN:1702218", "NCIT:C4327", "ONCOTREE:MDEP", "Orphanet:251883", "SCTID:715903004", "UMLS:C5231013", "icd11.foundation:1078680756"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.", "id": "MONDO:0003145", "name": "Supratentorial primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS/supratentorial PNET", "supratent. primitive neuro. tumor", "supratent. primitive neuro. tumour", "supratentorial PNET", "supratentorial primitive neuroectodermal tumor"], "xref": ["DOID:4791", "GARD:0027632", "ICD9:209.30", "MEDGEN:234914", "NCIT:C6968", "SCTID:699318007", "UMLS:C1336538"]}
{"category": ["biolink:Disease"], "description": "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)", "id": "MONDO:0003147", "name": "Space motion sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Space adaptation syndrome", "adaptation syndrome, Space", "motion sickness, Space", "syndrome, Space adaptation"], "xref": ["DOID:4796", "GARD:0023385", "MEDGEN:116642", "MESH:D018489", "UMLS:C0242700"]}
{"category": ["biolink:Disease"], "description": "A disease involving the male reproductive system.", "id": "MONDO:0003150", "name": "Male reproductive system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Male reproductive system disease", "Male reproductive system disorder", "disease of male reproductive system", "disease or disorder of male reproductive system", "disorder of Male reproductive system", "disorder of male reproductive system", "male reproductive disease", "male reproductive system disease", "male reproductive system disease or disorder"], "xref": ["DOID:48", "EFO:0009555", "ICD10CM:N40-N53", "ICD10WHO:N40-N51", "ICD9:600-608", "ICD9:608.9", "MEDGEN:66734", "MESH:D005832", "NCIT:C27019", "SCTID:363194005", "UMLS:C0236099"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003152", "name": "Adult brainstem gliosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain stem gliosarcoma"], "xref": ["DOID:4812", "GARD:0023386", "MEDGEN:277992", "NCIT:C9370", "UMLS:C1377914"]}
{"category": ["biolink:Disease"], "description": "A brain stem glioma that occurs in an adult.", "id": "MONDO:0003153", "name": "Adult brainstem glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain stem glioma", "adult brainstem glioma", "adult brainstem neuroglial neoplasm", "adult brainstem neuroglial tumor", "adult brainstem neuroglial tumour", "brain stem glioma of adults", "glioma of adult brain stem", "glioma of the adult brain stem"], "xref": ["DOID:4813", "GARD:0023387", "MEDGEN:124526", "NCIT:C9091", "UMLS:C0278873"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the peripheral nerves.", "id": "MONDO:0003154", "name": "Hemangioma of peripheral nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangioma of nerve", "hemangioma of peripheral nerve", "nerve hemangioma"], "xref": ["DOID:482", "MEDGEN:232595", "NCIT:C27507", "UMLS:C1333956"]}
{"category": ["biolink:Disease"], "description": "A hemangioma characterized by the presence of cavernous vascular spaces.", "id": "MONDO:0003155", "name": "Cavernous hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cavernoma", "cavernous angioma", "cavernous hemangioma", "cavernous hemangioma (morphologic abnormality)"], "xref": ["DOID:483", "EFO:1000151", "GARD:0023388", "HP:0001048", "ICDO:9121/0", "MEDGEN:9184", "MESH:D006392", "NCIT:C3086", "SCTID:416824008", "UMLS:C0018920"]}
{"category": ["biolink:Disease"], "description": "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.", "id": "MONDO:0003157", "name": "Disappearing bone disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4837", "ICD9:733.09", "MEDGEN:45247", "NANDO:1200878", "NANDO:1200880", "SCTID:240161003", "UMLS:C0029436"]}
{"category": ["biolink:Disease"], "description": "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.", "id": "MONDO:0003158", "name": "Malignant myoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant myoepithelioma", "myoepithelial carcinoma", "myoepithelioma, malignant"], "xref": ["DOID:4838", "GARD:0027633", "ICDO:8982/3", "MEDGEN:90822", "NCIT:C7596", "ONCOTREE:STMYEC", "UMLS:C0334699"]}
{"category": ["biolink:Disease"], "description": "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.", "id": "MONDO:0003159", "name": "Vascular hemostatic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder, vascular hemostatic", "disorders, vascular hemostatic", "hemostatic disorder", "hemostatic disorder, vascular", "hemostatic disorders, vascular", "vascular hemostatic disorder", "vascular hemostatic disorders"], "xref": ["DOID:484", "GARD:0023389", "MEDGEN:154721", "MESH:D020141", "SCTID:21112004", "UMLS:C0600502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003163", "name": "Cauda equina intradural extramedullary astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intradural extramedullary Cauda equina astrocytoma", "intradural extramedullary astrocytic tumour of the Cauda equina", "intradural extramedullary astrocytoma of Cauda equina", "intradural extramedullary astrocytoma of the Cauda equina"], "xref": ["DOID:4846", "GARD:0023390", "MEDGEN:235225", "NCIT:C5408", "UMLS:C1334254"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a cauda equina.", "id": "MONDO:0003164", "name": "Cauda equina neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cauda equina neoplasms", "cauda equina neoplasm (disease)", "cauda equina tumor", "cauda equina tumour", "neoplasm of cauda equina", "neoplasm of the Cauda equina", "tumor of Cauda equina", "tumor of cauda equina", "tumor of the Cauda equina", "tumour of Cauda equina", "tumour of cauda equina", "tumour of the Cauda equina"], "xref": ["DOID:4847", "MEDGEN:220390", "NCIT:C5479", "SCTID:126963001", "UMLS:C1263892"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.", "id": "MONDO:0003165", "name": "Cerebellar astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of cerebellum", "astrocytoma of cerebellum", "astrocytoma of the cerebellum", "astrocytoma, cerebellar", "cerebellar astrocytoma", "cerebellum astrocytoma", "cerebellum astrocytoma (excluding glioblastoma)"], "xref": ["DOID:4848", "GARD:0023391", "MEDGEN:196631", "NCIT:C9475", "UMLS:C0740480"]}
{"category": ["biolink:Disease"], "description": "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.", "id": "MONDO:0003168", "name": "Cerebellar pilocytic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cerebellar pilocytic astrocytoma", "cerebellum pilocytic astrocytoma", "pilocytic astrocytoma of cerebellum", "pilocytic astrocytoma of the cerebellum"], "xref": ["DOID:4853", "GARD:0023392", "MEDGEN:91158", "NCIT:C6809", "SCTID:277507004", "UMLS:C0349620"]}
{"category": ["biolink:Disease"], "description": "A astrocytoma that involves the diencephalon.", "id": "MONDO:0003169", "name": "Diencephalic astrocytomas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of diencephalon", "astrocytoma of diencephalon", "astrocytoma of the diencephalon", "diencephalic astrocytoma", "diencephalon astrocytoma", "diencephalon astrocytoma (excluding glioblastoma)"], "xref": ["DOID:4855", "GARD:0023393", "MEDGEN:272542", "NCIT:C5128", "UMLS:C1333284"]}
{"category": ["biolink:Disease"], "description": "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).", "id": "MONDO:0003170", "name": "Gliofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gliofibroma (morphologic abnormality)"], "xref": ["DOID:4856", "GARD:0023394", "ICDO:9442/1", "MEDGEN:226850", "NCIT:C5419", "UMLS:C1266178"]}
{"category": ["biolink:Disease"], "description": "A astrocytoma that involves the pineal body.", "id": "MONDO:0003171", "name": "Pineal gland astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of pineal body", "astrocytoma of pineal gland", "astrocytoma of the pineal gland", "pineal astrocytic tumour", "pineal astrocytoma", "pineal body astrocytoma", "pineal body astrocytoma (excluding glioblastoma)"], "xref": ["DOID:4858", "GARD:0023395", "MEDGEN:83711", "NCIT:C8274", "UMLS:C0280795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003172", "name": "Glomeruloid hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:486", "MEDGEN:224917", "NCIT:C27505", "SCTID:403976007", "UMLS:C1304511"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma that arises from the brain stem.", "id": "MONDO:0003173", "name": "Brain stem astrocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of brainstem", "brain stem astrocytoma", "brainstem astrocytoma", "brainstem astrocytoma (excluding glioblastoma)"], "xref": ["DOID:4860", "GARD:0023396", "MEDGEN:231458", "NCIT:C7445", "SCTID:107581000119103", "UMLS:C1332608"]}
{"category": ["biolink:Disease"], "description": "A low or high grade astrocytoma that arises in the spinal cord.", "id": "MONDO:0003174", "name": "Spinal cord astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of spinal cord", "astrocytoma of spinal cord", "astrocytoma of the spinal cord", "spinal astrocytoma", "spinal cord astrocytoma", "spinal cord astrocytoma (excluding glioblastoma)"], "xref": ["DOID:4863", "EFO:1000544", "GARD:0023397", "MEDGEN:91152", "NCIT:C4641", "SCTID:254948003", "UMLS:C0349540"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.", "id": "MONDO:0003175", "name": "Salivary gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of salivary gland", "adenoid cystic carcinoma of the salivary gland", "cylindroma (morphologic abnormality)", "saliva-secreting gland adenoid cystic carcinoma", "salivary gland adenoid cystic cancer", "salivary gland adenoid cystic carcinoma"], "xref": ["DOID:4866", "GARD:0023398", "MEDGEN:79034", "NCIT:C8026", "SCTID:422833009", "UMLS:C0279751"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that arises from the prostate gland.", "id": "MONDO:0003177", "name": "Prostate adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of prostate", "adenoid cystic carcinoma of the prostate", "prostate adenoid cystic carcinoma", "prostate gland adenoid cystic carcinoma"], "xref": ["DOID:4868", "GARD:0023399", "MEDGEN:233352", "NCIT:C5539", "UMLS:C1335502"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the skin of body.", "id": "MONDO:0003180", "name": "Cutaneous adenocystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of skin", "adenoid cystic carcinoma of the skin", "adenoid cystic cutaneous carcinoma", "adenoid cystic eccrine carcinoma (morphologic abnormality)", "adenoid cystic skin carcinoma", "primary cutaneous adenocystic carcinoma", "skin of body adenoid cystic carcinoma"], "xref": ["DOID:4871", "GARD:0023400", "MEDGEN:91071", "NCIT:C4471", "SCTID:254711000", "UMLS:C0346017"]}
{"category": ["biolink:Disease"], "description": "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.", "id": "MONDO:0003181", "name": "Lung adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocystic carcinoma of lung", "adenocystic carcinoma of the lung", "adenoid cystic carcinoma of lung", "adenoid cystic carcinoma of the lung", "lung adenocystic carcinoma", "lung adenoid cystic cancer", "lung adenoid cystic carcinoma", "pulmonary adenocystic carcinoma", "pulmonary adenoid cystic carcinoma"], "xref": ["DOID:4872", "GARD:0023401", "ICD9:162.9", "MEDGEN:232709", "NCIT:C5666", "ONCOTREE:LUACC", "SCTID:707466008", "UMLS:C1334439"]}
{"category": ["biolink:Disease"], "description": "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.", "id": "MONDO:0003182", "name": "Anterior horn disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of ventral horn of spinal cord", "disease or disorder of ventral horn of spinal cord", "disorder of ventral horn of spinal cord", "ventral horn of spinal cord disease", "ventral horn of spinal cord disease or disorder"], "xref": ["DOID:4873", "ICD9:335", "MEDGEN:102314", "SCTID:85672005", "UMLS:C0154681"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the trachea.", "id": "MONDO:0003184", "name": "Trachea carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of the trachea", "carcinoma of the trachea", "carcinoma of trachea", "trachea carcinoma", "tracheal carcinoma"], "xref": ["DOID:4876", "EFO:1000599", "MEDGEN:315650", "NCIT:C9347", "UMLS:C1744708"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.", "id": "MONDO:0003185", "name": "Adenoid cystic breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocystic breast carcinoma", "adenocystic carcinoma of breast", "adenocystic carcinoma of the breast", "adenoid cystic breast carcinoma", "adenoid cystic carcinoma of breast", "adenoid cystic carcinoma of the breast", "breast adenoid cystic carcinoma", "mammary adenocystic carcinoma", "mammary adenoid cystic carcinoma"], "xref": ["DOID:4877", "EFO:1000071", "GARD:0023402", "MEDGEN:231031", "NCIT:C5130", "ONCOTREE:ACBC", "UMLS:C1332167"]}
{"category": ["biolink:Disease"], "description": "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)", "id": "MONDO:0003186", "name": "Esophageal adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of esophagus", "adenoid cystic carcinoma of oesophagus", "adenoid cystic carcinoma of the esophagus", "adenoid cystic carcinoma of the oesophagus", "adenoid cystic carcinoma, esophagus", "adenoid cystic carcinoma, oesophagus", "adenoid cystic esophagus carcinoma", "adenoid cystic oesophagus carcinoma", "esophageal adenoid cystic cancer", "esophageal adenoid cystic carcinoma", "esophagus adenoid cystic carcinoma", "oesophagus adenoid cystic carcinoma"], "xref": ["DOID:4878", "GARD:0023403", "MEDGEN:232468", "NCIT:C5342", "UMLS:C1333441"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.", "id": "MONDO:0003187", "name": "Bartholin gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin gland adenoid cystic carcinoma", "Bartholin's gland adenoid cystic carcinoma", "major vestibular gland adenoid cystic carcinoma"], "xref": ["DOID:4879", "GARD:0023404", "MEDGEN:307247", "NCIT:C40295", "UMLS:C1511047"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the middle ear", "id": "MONDO:0003189", "name": "Middle ear adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinoma of middle Ear", "adenocarcinoma of the middle Ear", "adenocarcinoma of the middle ear", "middle Ear adenocarcinoma", "middle ear adenocarcinoma"], "xref": ["DOID:4892", "MEDGEN:235326", "NCIT:C6848", "UMLS:C1334758"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the middle ear", "id": "MONDO:0003190", "name": "Middle ear carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of middle Ear", "carcinoma of middle ear", "carcinoma of the middle Ear", "carcinoma of the middle ear", "middle Ear carcinoma", "middle ear carcinoma"], "xref": ["DOID:4893", "MEDGEN:233189", "NCIT:C6089", "UMLS:C1334760"]}
{"category": ["biolink:Disease"], "description": "An exceptionally rare adenocarcinoma that arises from the rete ovarii.", "id": "MONDO:0003191", "name": "Rete ovarii adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["rete ovarii adenocarcinoma"], "xref": ["DOID:4894", "GARD:0023405", "MEDGEN:826068", "NCIT:C40017", "UMLS:C3840223"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.", "id": "MONDO:0003192", "name": "Rete ovarii neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of rete ovarii", "rete ovarii neoplasm (disease)", "rete ovarii tumor", "rete ovarii tumour", "tumor of rete ovarii", "tumour of rete ovarii"], "xref": ["DOID:4895", "MEDGEN:271118", "NCIT:C40016", "UMLS:C1514909"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the bile duct", "id": "MONDO:0003193", "name": "Bile duct adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bile duct adenocarcinoma"], "xref": ["DOID:4896", "GARD:0023406", "MEDGEN:234585", "NCIT:C27813", "UMLS:C1370800"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that involves the lung.", "id": "MONDO:0003194", "name": "Hemangioma of lung", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lung hemangioma"], "xref": ["DOID:490", "MEDGEN:1843480", "UMLS:C0241983"]}
{"category": ["biolink:Disease"], "description": "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.", "id": "MONDO:0003195", "name": "Peritoneal serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["peritoneum serous adenocarcinoma"], "xref": ["DOID:4901"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the vermiform appendix", "id": "MONDO:0003196", "name": "Appendix carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["appendix carcinoma", "carcinoma of appendix", "carcinoma of the appendix", "carcinoma of vermiform appendix", "vermiform appendix carcinoma"], "xref": ["DOID:4902", "GARD:0023407", "MEDGEN:196398", "NCIT:C9330", "SCTID:448992002", "UMLS:C0728951"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.", "id": "MONDO:0003197", "name": "Granular cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["granular cell adenocarcinoma", "granular cell carcinoma", "granular cell carcinoma (morphologic abnormality)"], "xref": ["DOID:4903", "GARD:0023408", "ICDO:8320/3", "MEDGEN:104695", "NCIT:C3681", "UMLS:C0205644"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.", "id": "MONDO:0003198", "name": "Small intestine adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma - small intest.", "adenocarcinoma of small bowel", "adenocarcinoma of small intestine", "adenocarcinoma of the small bowel", "adenocarcinoma of the small intestine", "small bowel adenocarcinoma", "small intestinal adenocarcinoma", "small intestine adenocarcinoma"], "xref": ["DOID:4906", "EFO:1000532", "GARD:0019851", "MEDGEN:82984", "NCIT:C7888", "Orphanet:104075", "SCTID:424440001", "UMLS:C0278803", "icd11.foundation:1369513329"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the anus", "id": "MONDO:0003199", "name": "Anal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anal carcinoma", "anus carcinoma", "carcinoma of anus", "carcinoma of the anus"], "xref": ["DOID:4908", "GARD:0027634", "MEDGEN:76006", "NCIT:C9291", "SCTID:448315008", "UMLS:C0279637"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the urethra", "id": "MONDO:0003200", "name": "Urethra adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of the urethra", "adenocarcinoma of urethra", "urethra adenocarcinoma", "urethral adenocarcinoma"], "xref": ["DOID:4910", "GARD:0027635", "MEDGEN:234461", "NCIT:C6167", "ONCOTREE:UAD", "UMLS:C1336885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003202", "name": "Pituitary gland basophilic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basophil carcinoma (morphologic abnormality)", "pituitary gland basophil carcinoma"], "xref": ["DOID:4915", "GARD:0023409", "MEDGEN:352901", "NCIT:C27392", "UMLS:C1704778"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.", "id": "MONDO:0003204", "name": "Villous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["villous adenocarcinoma", "villous adenocarcinoma (morphologic abnormality)"], "xref": ["DOID:4917", "ICDO:8262/3", "MEDGEN:137741", "NCIT:C4142", "UMLS:C0334306"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the renal pelvis", "id": "MONDO:0003205", "name": "Renal pelvis adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adenocarcinoma of kidney pelvis", "adenocarcinoma of renal pelvis", "adenocarcinoma of the kidney pelvis", "adenocarcinoma of the renal pelvis", "kidney pelvis adenocarcinoma", "kidney renal pelvis adenocarcinoma", "renal pelvis adenocarcinoma"], "xref": ["DOID:4918", "GARD:0023410", "MEDGEN:277590", "NCIT:C6143", "UMLS:C1335748"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that is not present at birth but develops later in life.", "id": "MONDO:0003206", "name": "Acquired hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired hemangioma"], "xref": ["DOID:492", "MEDGEN:208988", "NCIT:C27018", "UMLS:C0856897"]}
{"category": ["biolink:Disease"], "description": "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.", "id": "MONDO:0003208", "name": "Breast secretory carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystic hypersecretory breast carcinoma", "cystic hypersecretory carcinoma of breast", "cystic hypersecretory carcinoma of the breast", "infiltrating cystic hypersecretory duct breast carcinoma", "invasive cystic hypersecretory duct breast carcinoma", "juvenile breast carcinoma", "juvenile carcinoma of breast", "juvenile carcinoma of the breast", "juvenile carcinoma of the breast (morphologic abnormality)", "juvenile secretory breast carcinoma", "juvenile secretory carcinoma of breast", "juvenile secretory carcinoma of the breast", "secretory breast carcinoma", "secretory carcinoma", "secretory carcinoma of breast", "secretory carcinoma of the breast"], "xref": ["DOID:4922", "ICDO:8502/3", "ICDO:8508/3", "MEDGEN:87226", "MESH:C537535", "NCIT:C4189", "ONCOTREE:JSCB", "UMLS:C0334371"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.", "id": "MONDO:0003209", "name": "Thymus gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymus adenocarcinoma", "adenocarcinoma of Thymus", "adenocarcinoma of the Thymus", "thymic adenocarcinoma", "thymus adenocarcinoma"], "xref": ["DOID:4923", "GARD:0023411", "MEDGEN:234426", "NCIT:C6459", "UMLS:C1336743"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.", "id": "MONDO:0003210", "name": "Intrahepatic cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ICC", "cholangiocarcinoma, intrahepatic, malignant", "intrahepatic Cholangiocellular carcinoma", "intrahepatic bile duct cancer (cholangiocarcinoma)", "intrahepatic bile duct carcinoma", "intrahepatic carcinoma of bile duct", "intrahepatic carcinoma of the bile duct", "intrahepatic cholangiocarcinoma", "intrahepatic cholangiocarcinoma (bile duct cancer)"], "xref": ["DOID:4928", "EFO:1001961", "GARD:0006042", "ICD10CM:C22.1", "MEDGEN:87521", "NCIT:C35417", "ONCOTREE:IHCH", "SCTID:109842005", "UMLS:C0345905", "icd11.foundation:1253728223", "icd11.foundation:387909164"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the nasal cavity", "id": "MONDO:0003211", "name": "Nasal cavity adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinoma of nasal cavity", "adenocarcinoma of the nasal cavity", "nasal cavity adenocarcinoma"], "xref": ["DOID:4930", "MEDGEN:233746", "NCIT:C6015", "UMLS:C1334920"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the nasal cavity", "id": "MONDO:0003212", "name": "Nasal cavity carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of nasal cavity", "carcinoma of the nasal cavity", "nasal cavity carcinoma"], "xref": ["DOID:4931", "MEDGEN:235119", "NCIT:C9336", "SCTID:448990005", "UMLS:C1377785"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.", "id": "MONDO:0003214", "name": "Apocrine adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["apocrine adenocarcinoma (morphologic abnormality)", "apocrine carcinoma", "apocrine gland adenocarcinoma", "apocrine gland carcinoma", "carcinoma of apocrine gland"], "xref": ["DOID:4933", "GARD:0012138", "ICDO:8401/3", "MEDGEN:569650", "NCIT:C4169", "UMLS:C0334346"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the apocrine sweat gland.", "id": "MONDO:0003215", "name": "Apocrine sweat gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["apocrine sweat gland cancer", "cancer of apocrine sweat gland", "malignant apocrine neoplasm", "malignant apocrine neoplasm of skin", "malignant apocrine neoplasm of the skin", "malignant apocrine skin neoplasm", "malignant apocrine skin tumor", "malignant apocrine skin tumour", "malignant apocrine sweat gland neoplasm", "malignant apocrine tumor", "malignant apocrine tumor of skin", "malignant apocrine tumor of the skin", "malignant apocrine tumour", "malignant apocrine tumour of skin", "malignant apocrine tumour of the skin", "malignant neoplasm of apocrine sweat gland"], "xref": ["DOID:4934", "MEDGEN:277327", "NCIT:C6800", "UMLS:C1334561"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the ureter", "id": "MONDO:0003216", "name": "Ureter adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenocarcinoma of the ureter", "adenocarcinoma of ureter", "ureter adenocarcinoma", "ureteral adenocarcinoma"], "xref": ["DOID:4938", "MEDGEN:234456", "NCIT:C6155", "UMLS:C1336873"]}
{"category": ["biolink:Disease"], "description": "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.", "id": "MONDO:0003218", "name": "Adenocarcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma in situ"], "xref": ["DOID:4943", "ICDO:8140/2", "MEDGEN:87203", "MESH:D065311", "NCIT:C4123", "ONCOTREE:AIS", "UMLS:C0334276"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.", "id": "MONDO:0003219", "name": "Gastroesophageal junction adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma - GEJ", "adenocarcinoma of cardioesophageal junction", "adenocarcinoma of gastroesophageal junction", "adenocarcinoma of the EG junction", "adenocarcinoma of the GE junction", "adenocarcinoma of the cardioesophageal junction", "adenocarcinoma of the esophagogastric junction", "adenocarcinoma of the gastroesophageal junction", "esophagogastric junction adenocarcinoma", "gastroesophageal junction adenocarcinoma"], "xref": ["DOID:4944", "MEDGEN:231030", "NCIT:C9296", "ONCOTREE:EGC", "ONCOTREE:GEJ", "UMLS:C1332166"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the gall bladder", "id": "MONDO:0003220", "name": "Gallbladder carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Gall bladder carcinoma (adeno)", "Gall bladder carcinoma (adenocarcinoma)", "cancer of gallbladder", "cancer of the gallbladder", "carcinoma of gall bladder", "carcinoma of gallbladder", "carcinoma of the gallbladder", "gall bladder carcinoma", "gallbladder carcinoma"], "xref": ["DOID:4948", "EFO:1001956", "GARD:0023412", "MEDGEN:116001", "NCIT:C3844", "SCTID:372140005", "UMLS:C0235782"]}
{"category": ["biolink:Disease"], "description": "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.", "id": "MONDO:0003222", "name": "Central nervous system melanocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS melanocytic neoplasm", "CNS melanocytic tumor", "CNS melanocytic tumour", "central nervous system melanocytic neoplasm", "central nervous system melanocytic neoplasms", "central nervous system melanocytic tumor", "central nervous system melanocytic tumour", "melanocytic neoplasm of CNS", "melanocytic neoplasm of central nervous system", "melanocytic neoplasm of the CNS", "melanocytic neoplasm of the central nervous system", "melanocytic tumor of CNS", "melanocytic tumor of central nervous system", "melanocytic tumor of the central nervous system", "melanocytic tumour of CNS", "melanocytic tumour of central nervous system", "melanocytic tumour of the CNS", "melanocytic tumour of the central nervous system"], "xref": ["DOID:4955", "GARD:0009422", "MEDGEN:1809168", "NCIT:C5504", "SCTID:277523004", "UMLS:C5670969"]}
{"category": ["biolink:Disease"], "description": "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.", "id": "MONDO:0003223", "name": "Meninges hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hemangiopericytoma of meninges", "hemangiopericytoma of the meninges", "meningeal cluster hemangiopericytoma", "meningeal cluster spindle cell tumor", "meningeal cluster spindle cell tumour", "meningeal hemangiopericytoma", "meningeal solitary fibrous tumor/hemangiopericytoma", "meninges hemangiopericytoma"], "xref": ["DOID:4957", "GARD:0023413", "MEDGEN:83894", "NCIT:C4660", "ONCOTREE:HPCCNS", "SCTID:277522009", "UMLS:C0349622"]}
{"category": ["biolink:Disease"], "description": "Any disease of the bone marrow.", "id": "MONDO:0003225", "name": "Bone marrow disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone marrow disease", "bone marrow disease or disorder", "bone marrow disorder", "disease of bone marrow", "disease or disorder of bone marrow", "disorder of bone marrow"], "xref": ["DOID:4961", "GARD:0023414", "ICD9:289.9", "MEDGEN:892905", "MESH:D001855", "NCIT:C34433", "SCTID:127035006", "UMLS:C4021634"]}
{"category": ["biolink:Disease"], "description": "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.", "id": "MONDO:0003227", "name": "Prosopagnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["face blindness", "prosopagnosia", "prosopagnosia (disease)"], "xref": ["DOID:4970", "GARD:0027636", "HP:0010528", "MEDGEN:65884", "MESH:D020238", "NCIT:C85031", "UMLS:C0234512", "icd11.foundation:858616900"]}
{"category": ["biolink:Disease"], "description": "A poliomyelitis that does not exhibit paralysis.", "id": "MONDO:0003231", "name": "Acute nonparalytic poliomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acute nonparalytic poliomyelitis"], "xref": ["DOID:4986", "GARD:0023415", "ICD10CM:A80.4", "ICD9:045.2", "ICD9:045.20", "ICD9:045.22", "ICD9:045.23", "MEDGEN:509107", "SCTID:14535005", "UMLS:C0152998", "icd11.foundation:1066160874"]}
{"category": ["biolink:Disease"], "description": "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.", "id": "MONDO:0003232", "name": "Alcoholic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcoholic pancreatitis"], "xref": ["DOID:4988", "EFO:1002013", "MEDGEN:84027", "MESH:D019512", "SCTID:445507008", "UMLS:C0376670"]}
{"category": ["biolink:Disease"], "description": "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)", "id": "MONDO:0003233", "name": "Essential tremor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4990", "EFO:0003108", "ICD10CM:G25.0", "ICD9:333.1", "MEDGEN:78725", "MESH:D020329", "OMIMPS:190300", "Orphanet:862", "SCTID:609558009", "UMLS:C0270736"]}
{"category": ["biolink:Disease"], "description": "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.", "id": "MONDO:0003234", "name": "Optic nerve astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["astrocytic tumour of optic nerve", "astrocytoma (excluding glioblastoma) of cranial nerve II", "astrocytoma of optic nerve", "astrocytoma of the optic nerve", "cranial nerve II astrocytoma (excluding glioblastoma)", "optic nerve astrocytoma"], "xref": ["DOID:4991", "GARD:0023416", "MEDGEN:235405", "NCIT:C6769", "UMLS:C1335114"]}
{"category": ["biolink:Disease"], "description": "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.", "id": "MONDO:0003235", "name": "Optic nerve glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cranial nerve II glioma", "glioma of cranial nerve II", "glioma of optic nerve", "glioma of the optic nerve", "optic nerve glioma"], "xref": ["DOID:4992", "EFO:0009254", "GARD:0023417", "ICD9:237.9", "MEDGEN:138056", "MESH:D020339", "NCIT:C4537", "SCTID:254976006", "UMLS:C0346326"]}
{"category": ["biolink:Disease"], "description": "An adenomyoma characterized by the presence of marked glandular architectural complexity.", "id": "MONDO:0003236", "name": "Atypical polypoid adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atypical polypoid adenomyoma", "atypical polypoid adenomyoma (morphologic abnormality)"], "xref": ["DOID:4993", "MEDGEN:266248", "NCIT:C6895", "UMLS:C1300347"]}
{"category": ["biolink:Disease"], "description": "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.", "id": "MONDO:0003237", "name": "Adenomyoma of uterine corpus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenomyoma of body of uterus", "adenomyoma of corpus uteri", "adenomyoma of the body of uterus", "adenomyoma of the corpus uteri", "adenomyoma of the uterine body", "adenomyoma of the uterine corpus", "adenomyoma of uterine body", "adenomyoma of uterine corpus", "body of uterus adenomyoma", "corpus uteri adenomyoma", "uterine body adenomyoma", "uterine corpus adenomyoma"], "xref": ["DOID:4994", "MEDGEN:234465", "NCIT:C6338", "UMLS:C1336903"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.", "id": "MONDO:0003238", "name": "Cervical adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical adenomyoma"], "xref": ["DOID:4995", "MEDGEN:275705", "NCIT:C40231", "UMLS:C1516404"]}
{"category": ["biolink:Disease"], "description": "A disease involving the thyroid gland.", "id": "MONDO:0003240", "name": "Thyroid gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of thyroid gland", "disease or disorder of thyroid gland", "disorder of thyroid gland", "thyroid disease", "thyroid gland disease", "thyroid gland disease or disorder", "thyroid gland diseases", "thyroid gland disorder", "thyroid gland disorders"], "xref": ["DOID:50", "EFO:1000627", "ICD10CM:E00-E07", "ICD9:240-246", "ICD9:246.8", "ICD9:246.9", "MEDGEN:1378579", "MESH:D013959", "NCIT:C26893", "SCTID:14304000", "UMLS:C4317107", "Wikipedia:Thyroid_disease"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the brain and spinal cord.", "id": "MONDO:0003241", "name": "Central nervous system hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central nervous system hemangioma", "hemangioma of CNS", "hemangioma of central nervous system", "hemangioma of the CNS", "hemangioma of the central nervous system"], "xref": ["DOID:501", "MEDGEN:272703", "NCIT:C7004", "UMLS:C1333957"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.", "id": "MONDO:0003243", "name": "Hepatocellular clear cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["clear cell carcinoma of liver cells", "clear cell carcinoma of the liver cells", "clear cell hepatocellular cancer", "clear cell hepatocellular carcinoma", "hepatocellular clear cell carcinoma", "liver cell clear cell carcinoma"], "xref": ["DOID:5016", "GARD:0023418", "ICDO:8174/3", "MEDGEN:690059", "NCIT:C5754", "UMLS:C1266020"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)", "id": "MONDO:0003244", "name": "Central nervous system mesenchymal non-meningothelial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CNS soft tissue neoplasm", "CNS soft tissue tumor", "CNS soft tissue tumour", "central nervous system mesenchymal, non-meningothelial neoplasm", "central nervous system mesenchymal, non-meningothelial tumor", "central nervous system mesenchymal, non-meningothelial tumour", "central nervous system soft tissue neoplasm", "central nervous system soft tissue tumor", "central nervous system soft tissue tumour", "mesenchymal non-meningothelial tumor of the central nervous system", "mesenchymal non-meningothelial tumour of the central nervous system", "mesenchymal, non-meningothelial tumor of CNS", "mesenchymal, non-meningothelial tumor of central nervous system", "mesenchymal, non-meningothelial tumor of the CNS", "mesenchymal, non-meningothelial tumour of CNS", "mesenchymal, non-meningothelial tumour of central nervous system", "mesenchymal, non-meningothelial tumour of the CNS", "soft tissue neoplasm of CNS", "soft tissue neoplasm of central nervous system", "soft tissue neoplasm of the CNS", "soft tissue neoplasm of the central nervous system", "soft tissue tumor of CNS", "soft tissue tumor of central nervous system", "soft tissue tumor of the CNS", "soft tissue tumor of the central nervous system", "soft tissue tumour of CNS", "soft tissue tumour of central nervous system", "soft tissue tumour of the CNS", "soft tissue tumour of the central nervous system"], "xref": ["DOID:502", "MEDGEN:234104", "NCIT:C5449", "UMLS:C1332893"]}
{"category": ["biolink:Disease"], "description": "A hepatocellular carcinoma that develops following exposure to aflatoxin.", "id": "MONDO:0003245", "name": "Aflatoxin-related hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aflatoxins-related hepatocellular cancer", "aflatoxins-related hepatocellular carcinoma"], "xref": ["DOID:5022", "GARD:0023419", "MEDGEN:231047", "NCIT:C27922", "UMLS:C1332222"]}
{"category": ["biolink:Disease"], "description": "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.", "id": "MONDO:0003246", "name": "Sclerosing hepatic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["scirrhous hepatocellular cancer", "scirrhous hepatocellular carcinoma", "sclerosing hepatic carcinoma", "sclerosing hepatocellular carcinoma"], "xref": ["DOID:5026", "GARD:0023420", "ICDO:8172/3", "MEDGEN:266088", "NCIT:C27388", "UMLS:C1266018"]}
{"category": ["biolink:Disease"], "description": "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.", "id": "MONDO:0003248", "name": "Adult pineal parenchymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adult pineal gland neoplasm", "adult pineal gland tumor", "adult pineal gland tumour", "adult pineal parenchymal cell neoplasm", "adult pineal parenchymal cell tumor", "adult pineal parenchymal cell tumour", "adult pineal parenchymal neoplasm", "adult pineal parenchymal tumor", "parenchymal neoplasm of adult pineal gland", "parenchymal neoplasm of the adult pineal gland", "parenchymal tumor of adult pineal gland", "parenchymal tumor of the adult pineal gland", "parenchymal tumour of adult pineal gland", "parenchymal tumour of the adult pineal gland", "pineal parenchymal cell neoplasm of adults"], "xref": ["DOID:5031", "MEDGEN:83710", "NCIT:C8273", "UMLS:C0280794"]}
{"category": ["biolink:Disease"], "description": "Abnormal malignant growth of the cells that comprise the pineal parenchyma.", "id": "MONDO:0003249", "name": "Pineal gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of pineal body", "malignant neoplasm of pineal body", "malignant neoplasm of pineal gland", "malignant neoplasm of the pineal gland", "malignant pineal area neoplasm", "malignant pineal area tumor", "malignant pineal area tumour", "malignant pineal body neoplasm", "malignant pineal gland neoplasm", "malignant pineal gland tumor", "malignant pineal gland tumour", "malignant pineal region neoplasm", "malignant pineal region tumor", "malignant pineal region tumour", "malignant tumor of pineal gland", "malignant tumor of the pineal gland", "malignant tumour of pineal gland", "malignant tumour of the pineal gland", "pineal body cancer"], "xref": ["DOID:5032", "GARD:0027637", "ICD10CM:C75.3", "ICD9:194.4", "MEDGEN:102284", "NCIT:C3573", "SCTID:363483004", "UMLS:C0153655"]}
{"category": ["biolink:Disease"], "description": "A granular cell tumor that is confined to the site of origin, without metastatic potential.", "id": "MONDO:0003250", "name": "Benign granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign granular cell myoblastoma", "benign granular cell neoplasm", "benign granular cell tumor", "granular cell tumor, benign", "myoblastoma"], "xref": ["DOID:5039", "GARD:0023421", "MEDGEN:44550", "NCIT:C3252", "UMLS:C0027043"]}
{"category": ["biolink:Disease"], "description": "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003", "id": "MONDO:0003251", "name": "Esophageal granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal granular cell myoblastoma", "esophageal granular cell neoplasm", "esophageal granular cell tumor", "esophagus granular cell tumor", "granular cell esophageal tumor", "granular cell esophageal tumour", "granular cell esophagus myoblastoma", "granular cell esophagus neoplasm", "granular cell esophagus tumor", "granular cell myoblastoma of esophagus", "granular cell myoblastoma of oesophagus", "granular cell myoblastoma of the esophagus", "granular cell myoblastoma of the oesophagus", "granular cell neoplasm of esophagus", "granular cell neoplasm of oesophagus", "granular cell neoplasm of the esophagus", "granular cell neoplasm of the oesophagus", "granular cell oesophagus myoblastoma", "granular cell oesophagus neoplasm", "granular cell oesophagus tumour", "granular cell tumor of esophagus", "granular cell tumor of the esophagus", "granular cell tumour of oesophagus", "granular cell tumour of the oesophagus", "oesophagus granular cell tumour"], "xref": ["DOID:5040", "GARD:0023422", "MEDGEN:234228", "NCIT:C5700", "UMLS:C1333448", "icd11.foundation:1070074406"]}
{"category": ["biolink:Disease"], "description": "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.", "id": "MONDO:0003252", "name": "Granular cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["granular cell tumor, malignant", "granular cell tumor, malignant (morphologic abnormality)", "malignant granular cell myoblastoma", "malignant granular cell neoplasm", "malignant granular cell tumor", "malignant granular cell tumour", "myoblastoma, malignant"], "xref": ["DOID:5042", "GARD:0023423", "ICD9:171.9", "ICDO:9580/3", "MEDGEN:87276", "NCIT:C4336", "SCTID:404041003", "UMLS:C0334618"]}
{"category": ["biolink:Disease"], "description": "A usually benign granular cell tumor that arises from the vulva.", "id": "MONDO:0003253", "name": "Vulvar granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["granular cell tumor of mammalian vulva", "granular cell tumour of mammalian vulva", "mammalian vulva granular cell tumor", "mammalian vulva granular cell tumour", "vulvar granular cell tumor"], "xref": ["DOID:5043", "GARD:0023424", "MEDGEN:276992", "NCIT:C40328", "UMLS:C1520083"]}
{"category": ["biolink:Disease"], "description": "A very rare granular cell tumor that arises from the heart.", "id": "MONDO:0003254", "name": "Cardiac granular cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cardiac granular cell neoplasm", "Cardiac granular cell tumor", "Cardiac granular cell tumour", "granular cell neoplasm of heart", "granular cell neoplasm of the heart", "granular cell tumor of heart", "granular cell tumor of the heart", "granular cell tumour of heart", "granular cell tumour of the heart", "heart granular cell tumor", "heart granular cell tumour"], "xref": ["DOID:5044", "GARD:0023425", "MEDGEN:232023", "NCIT:C5360", "UMLS:C1332845"]}
{"category": ["biolink:Disease"], "description": "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.", "id": "MONDO:0003255", "name": "Mediastinal granular cell myoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["granular cell myoblastoma of mediastinum", "granular cell myoblastoma of the mediastinum", "granular cell neoplasm of mediastinum", "granular cell neoplasm of the mediastinum", "granular cell tumor of mediastinum", "granular cell tumor of the mediastinum", "granular cell tumour of mediastinum", "granular cell tumour of the mediastinum", "mediastinal granular cell myoblastoma", "mediastinal granular cell neoplasm", "mediastinal granular cell tumor", "mediastinal granular cell tumour", "mediastinum granular cell tumor", "mediastinum granular cell tumour"], "xref": ["DOID:5046", "GARD:0023426", "MEDGEN:235309", "NCIT:C6601", "UMLS:C1334656"]}
{"category": ["biolink:Disease"], "description": "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)", "id": "MONDO:0003256", "name": "Neurohypophysis granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["granular cell tumor of Neurohypophysis", "granular cell tumor of neurohypophysis", "granular cell tumor of the Neurohypophysis (WHO grade I)", "granular cell tumor of the neurohypophysis", "granular cell tumor of the posterior pituitary gland", "granular cell tumour of Neurohypophysis", "granular cell tumour of neurohypophysis", "granular cell tumour of the Neurohypophysis (WHO grade I)", "granular cell tumour of the neurohypophysis", "granular cell tumour of the posterior pituitary gland", "neurohypophysis granular cell tumor"], "xref": ["DOID:5047", "EFO:1000285", "GARD:0023427", "ICDO:9582/0", "MEDGEN:232255", "NCIT:C7017", "SCTID:699331002", "UMLS:C1333873"]}
{"category": ["biolink:Disease"], "description": "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.", "id": "MONDO:0003257", "name": "Posterior pituitary gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Neurohypophysis neoplasm", "Neurohypophysis tumor", "Neurohypophysis tumour", "PITUICYTOMA, benign", "neoplasm of neurohypophysis", "neurohypophysis neoplasm", "neurohypophysis neoplasm (disease)", "neurohypophysis tumor", "neurohypophysis tumour", "posterior pituitary gland neoplasm", "posterior pituitary gland tumor", "posterior pituitary gland tumour", "posterior pituitary neoplasm", "posterior pituitary tumor", "posterior pituitary tumour", "tumor of neurohypophysis", "tumour of neurohypophysis"], "xref": ["DOID:5048", "GARD:0023428", "MEDGEN:235368", "NCIT:C7157", "UMLS:C1334957"]}
{"category": ["biolink:Disease"], "description": "A hemangioma characterized by the presence of hobnail endothelial cells.", "id": "MONDO:0003258", "name": "Hobnail hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Targetoid Hemosiderotic hemangioma", "hobnail hemangioma"], "xref": ["DOID:505", "GARD:0027045", "MEDGEN:91080", "NCIT:C27506", "Orphanet:675362", "SCTID:254790003", "UMLS:C0346076"]}
{"category": ["biolink:Disease"], "description": "A cerebellar neoplasm that occurs in an adult.", "id": "MONDO:0003260", "name": "Adult cerebellar neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adult cerebellar neoplasm", "adult cerebellar neoplasms", "adult cerebellar tumor", "adult cerebellar tumors", "adult cerebellar tumour", "adult cerebellar tumours", "cerebellar neoplasm of adults", "neoplasm of adult cerebellum", "neoplasm of the adult cerebellum", "tumor of adult cerebellum", "tumor of the adult cerebellum", "tumour of adult cerebellum", "tumour of the adult cerebellum"], "xref": ["DOID:5056", "MEDGEN:272293", "NCIT:C5968", "UMLS:C1332197"]}
{"category": ["biolink:Disease"], "description": "A papillary meningioma that affects the cerebellum.", "id": "MONDO:0003261", "name": "Papillary meningioma of the cerebellum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebellum papillary meningioma", "papillary meningioma of cerebellum", "papillary meningioma of the cerebellum"], "xref": ["DOID:5057", "GARD:0023429", "MEDGEN:234109", "NCIT:C5270", "UMLS:C1332902"]}
{"category": ["biolink:Disease"], "description": "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.", "id": "MONDO:0003262", "name": "Rhabdoid meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma, rhabdoid (morphologic abnormality)", "papillary meningioma (morphologic abnormality)", "rhabdoid meningioma"], "xref": ["DOID:5058", "GARD:0023430", "MEDGEN:120445", "NCIT:C6909", "ONCOTREE:RHM", "UMLS:C0259786"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that affects the cerebellum and occurs during childhood.", "id": "MONDO:0003263", "name": "Childhood cerebellar neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood cerebellar neoplasm", "childhood cerebellar neoplasms", "childhood cerebellar tumor", "childhood cerebellar tumors", "childhood cerebellar tumour", "childhood cerebellar tumours", "childhood neoplasm of cerebellum", "childhood neoplasm of the cerebellum", "childhood tumor of cerebellum", "childhood tumor of the cerebellum", "childhood tumour of cerebellum", "childhood tumour of the cerebellum", "paediatric cerebellar neoplasm", "paediatric cerebellar tumour", "paediatric neoplasm of cerebellum", "paediatric neoplasm of the cerebellum", "paediatric tumour of cerebellum", "paediatric tumour of the cerebellum", "pediatric cerebellar neoplasm", "pediatric cerebellar tumor", "pediatric neoplasm of cerebellum", "pediatric neoplasm of the cerebellum", "pediatric tumor of cerebellum", "pediatric tumor of the cerebellum"], "xref": ["DOID:5059", "MEDGEN:234124", "NCIT:C5970", "UMLS:C1332959"]}
{"category": ["biolink:Disease"], "description": "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.", "id": "MONDO:0003264", "name": "Basosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basosquamous carcinoma", "basosquamous cell carcinoma", "basosquamous tumor, malignant", "metatypical carcinoma (morphologic abnormality)", "skin basosquamous cell carcinoma", "skin mixed basal and squamous cell carcinoma"], "xref": ["DOID:5063", "EFO:1000529", "ICDO:8094/3", "MEDGEN:2841", "MESH:D002281", "NCIT:C2922", "UMLS:C0007118"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.", "id": "MONDO:0003265", "name": "Adjustment disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adjustment disorder", "adjustment reaction"], "xref": ["DOID:507", "ICD9:309", "ICD9:309.89", "ICD9:309.9", "MEDGEN:1338", "MESH:D000275", "NCIT:C92191", "SCTID:17226007", "UMLS:C0001546", "icd11.foundation:264310751"]}
{"category": ["biolink:Disease"], "description": "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)", "id": "MONDO:0003266", "name": "Ependymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ependymal neoplasm", "ependymal tumor", "ependymal tumors", "ependymal tumours"], "xref": ["EFO:1000027", "GARD:0016527", "MEDGEN:232459", "NCIT:C6770", "ONCOTREE:EPMT", "Orphanet:301", "UMLS:C1333407"]}
{"category": ["biolink:Disease"], "description": "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).", "id": "MONDO:0003268", "name": "Mixed glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glioma, mixed", "glioma, mixed, malignant", "mixed glial neoplasm", "mixed glial tumor", "mixed glial tumour", "mixed glioma", "mixed glioma (morphologic abnormality)", "mixed gliomas", "mixed neuroglial neoplasm", "mixed neuroglial tumor", "mixed neuroglial tumour"], "xref": ["DOID:5076", "GARD:0023431", "ICDO:9382/3", "MEDGEN:75477", "NCIT:C3903", "SCTID:443937008", "UMLS:C0259783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003271", "name": "Iodine hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5083", "ICD9:244.2", "MEDGEN:509535", "SCTID:190279008", "UMLS:C0154159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003272", "name": "Mixed epithelial stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed epithelial stromal tumor"], "xref": ["DOID:5088"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the sternum", "id": "MONDO:0003273", "name": "Sternum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of sternum", "malignant neoplasm of sternum", "malignant neoplasm of the sternum", "malignant sternal neoplasm", "malignant sternal tumor", "malignant sternal tumour", "malignant sternum neoplasm", "malignant tumor of sternum", "malignant tumor of the sternum", "malignant tumour of sternum", "malignant tumour of the sternum", "sternum cancer"], "xref": ["DOID:5090", "GARD:0023432", "MEDGEN:277996", "NCIT:C8408", "UMLS:C1382025"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the tissues of the thorax.", "id": "MONDO:0003274", "name": "Thoracic cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of thoracic segment of trunk", "malignant neoplasm of the thorax", "malignant neoplasm of thoracic segment of trunk", "malignant neoplasm of thorax", "malignant thoracic neoplasm", "malignant thoracic segment of trunk neoplasm", "malignant thoracic tumor", "malignant thoracic tumour", "malignant tumor of the thorax", "malignant tumor of thorax", "malignant tumour of the thorax", "malignant tumour of thorax", "thoracic segment of trunk cancer"], "xref": ["DOID:5093", "ICD10CM:C76.1", "ICD9:195.1", "MEDGEN:56320", "NCIT:C3576", "SCTID:188361007", "UMLS:C0153661"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the middle ear", "id": "MONDO:0003275", "name": "Middle ear cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of middle ear", "malignant middle Ear tumor", "malignant middle Ear tumour", "malignant middle ear neoplasm", "malignant neoplasm of middle ear", "malignant neoplasm of the middle Ear", "malignant tumor of middle Ear", "malignant tumor of the middle Ear", "malignant tumour of middle Ear", "malignant tumour of the middle Ear", "middle ear cancer"], "xref": ["DOID:5099", "ICD10CM:C30.1", "MEDGEN:99218", "NCIT:C4765", "SCTID:363359008", "UMLS:C0496788"]}
{"category": ["biolink:Disease"], "description": "A disease involving the middle ear.", "id": "MONDO:0003276", "name": "Middle ear disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of middle ear", "disease or disorder of middle ear", "disorder of middle ear", "middle Ear disorder", "middle ear disease", "middle ear disease or disorder"], "xref": ["DOID:5100", "ICD10CM:H65-H75", "MEDGEN:124401", "NCIT:C27065", "SCTID:68996008", "UMLS:C0271428"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.", "id": "MONDO:0003277", "name": "Malignant ear neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of ear", "ear cancer", "malignant Ear neoplasm", "malignant Ear tumor", "malignant Ear tumour", "malignant ear neoplasm", "malignant neoplasm of Ear", "malignant neoplasm of ear", "malignant neoplasm of the Ear", "malignant tumor of Ear", "malignant tumor of ear", "malignant tumor of the Ear", "malignant tumour of Ear", "malignant tumour of ear", "malignant tumour of the Ear"], "xref": ["DOID:5101", "MEDGEN:418247", "MESH:D004428", "NCIT:C9337", "SCTID:443648003", "UMLS:C2350059"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the internal ear.", "id": "MONDO:0003278", "name": "Inner ear cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of internal ear", "internal ear cancer", "malignant internal ear neoplasm", "malignant neoplasm of internal ear"], "xref": ["DOID:5102"]}
{"category": ["biolink:Disease"], "description": "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.", "id": "MONDO:0003279", "name": "Testicular infarct", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testicular infarction"], "xref": ["DOID:5104", "MEDGEN:95919", "NCIT:C27617", "SCTID:33793000", "UMLS:C0392041"]}
{"category": ["biolink:Disease"], "description": "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.", "id": "MONDO:0003281", "name": "Ovarian cystic teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ovary cystic teratoma"], "xref": ["DOID:5118", "GARD:0023433", "MEDGEN:235415", "NCIT:C7283", "UMLS:C1335155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003282", "name": "Ovarian cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian cyst", "ovarian cyst (disease)"], "xref": ["DOID:5119", "HP:0000138", "ICD9:620.2", "MEDGEN:14540", "MESH:D010048", "SCTID:79883001", "UMLS:C0029927"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.", "id": "MONDO:0003283", "name": "Epididymal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epididymal neoplasm", "epididymis neoplasm", "epididymis neoplasm (disease)", "epididymis tumor", "epididymis tumour", "neoplasm of epididymis", "neoplasm of epididymus", "tumor of epididymis", "tumour of epididymis"], "xref": ["DOID:512", "ICD9:239.5", "MEDGEN:138047", "NCIT:C39958", "SCTID:126902008", "UMLS:C0346239"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003284", "name": "Mediastinum leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of mediastinum", "leiomyoma of the mediastinum", "mediastinal leiomyoma", "mediastinum leiomyoma"], "xref": ["DOID:5123", "MEDGEN:277350", "NCIT:C6598", "UMLS:C1334659"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003285", "name": "Fallopian tube leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube leiomyoma", "leiomyoma of fallopian tube"], "xref": ["DOID:5124", "GARD:0023434", "MEDGEN:309126", "NCIT:C40127", "UMLS:C1517115"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003286", "name": "Extrahepatic bile duct leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extrahepatic bile duct leiomyoma", "leiomyoma of extrahepatic bile duct", "leiomyoma of the extrahepatic bile duct"], "xref": ["DOID:5125", "MEDGEN:232169", "NCIT:C5855", "UMLS:C1333507"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.", "id": "MONDO:0003287", "name": "Central nervous system leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central nervous system leiomyoma", "leiomyoma of CNS", "leiomyoma of central nervous system", "leiomyoma of the CNS", "leiomyoma of the central nervous system"], "xref": ["DOID:5126", "MEDGEN:232695", "NCIT:C6998", "UMLS:C1334382"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.", "id": "MONDO:0003288", "name": "Bizarre leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atypical leiomyoma", "bizarre leiomyoma", "pleomorphic leiomyoma"], "xref": ["DOID:5127", "ICDO:8893/0", "MEDGEN:90789", "NCIT:C4257", "UMLS:C0334478"]}
{"category": ["biolink:Disease"], "description": "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003289", "name": "Deep leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deep leiomyoma"], "xref": ["DOID:5128", "MEDGEN:234195", "NCIT:C6512", "UMLS:C1333266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003290", "name": "Simple partial epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5129", "ICD9:345.51"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003291", "name": "Leiomyoma cutis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cutaneous (skin) leiomyoma", "cutaneous leiomyoma", "leiomyoma cutis", "leiomyoma of skin", "leiomyoma of the skin", "leiomyoma of zone of skin", "skin leiomyoma", "zone of skin leiomyoma"], "xref": ["DOID:5132", "GARD:0023435", "MEDGEN:87533", "NCIT:C4482", "SCTID:254767008", "UMLS:C0346064"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003292", "name": "Anus leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anal leiomyoma", "anus leiomyoma", "leiomyoma of anus", "leiomyoma of the anus"], "xref": ["DOID:5134", "MEDGEN:231369", "NCIT:C5608", "UMLS:C1332266"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003293", "name": "Lung leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of lung", "leiomyoma of the lung", "lung leiomyoma", "pulmonary leiomyoma"], "xref": ["DOID:5136", "MEDGEN:232710", "NCIT:C5660", "SCTID:707374005", "UMLS:C1334447"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003294", "name": "Pericardium leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of pericardium", "leiomyoma of the pericardium", "pericardial leiomyoma", "pericardium leiomyoma"], "xref": ["DOID:5137", "MEDGEN:233321", "NCIT:C6743", "UMLS:C1335380"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.", "id": "MONDO:0003295", "name": "Leiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["leiomyomatosis", "leiomyomatosis, no ICD-O subtype", "leiomyomatosis, no ICD-O subtype (morphologic abnormality)"], "xref": ["DOID:5138", "ICDO:8890/1", "MEDGEN:60203", "MESH:D018231", "NCIT:C3748", "UMLS:C0206654"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.", "id": "MONDO:0003296", "name": "Cellular leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cellular leiomyoma", "cellular leiomyoma (morphologic abnormality)"], "xref": ["DOID:5139", "ICDO:8892/0", "MEDGEN:83155", "NCIT:C4256", "UMLS:C0334477"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003297", "name": "Gallbladder leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gall bladder leiomyoma", "gallbladder leiomyoma", "leiomyoma of gall bladder", "leiomyoma of gallbladder", "leiomyoma of the gallbladder"], "xref": ["DOID:5140", "MEDGEN:234290", "NCIT:C5747", "UMLS:C1333745"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003298", "name": "Vulvar leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of mammalian vulva", "mammalian vulva leiomyoma", "vulvar leiomyoma"], "xref": ["DOID:5142", "MEDGEN:274417", "NCIT:C40326", "UMLS:C1520087"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003299", "name": "Colorectal leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colorectal leiomyoma", "colorectum leiomyoma", "large intestine leiomyoma", "leiomyoma of large bowel", "leiomyoma of the large bowel", "leiomyoma of the large intestine"], "xref": ["DOID:5143", "MEDGEN:272497", "NCIT:C5677", "UMLS:C1333113"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003300", "name": "Appendix leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["appendiceal leiomyoma", "appendix leiomyoma", "leiomyoma of appendix", "leiomyoma of the appendix", "leiomyoma of vermiform appendix", "vermiform appendix leiomyoma"], "xref": ["DOID:5146", "GARD:0027341", "MEDGEN:231077", "NCIT:C5514", "UMLS:C1332327", "icd11.foundation:1952682533"]}
{"category": ["biolink:Disease"], "description": "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.", "id": "MONDO:0003301", "name": "Dartoic leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dartoic leiomyoma", "dartoic myoma", "dartos muscle leiomyoma", "leiomyoma of dartos muscle"], "xref": ["DOID:5147", "GARD:0023436", "ICD9:215.9", "MEDGEN:91078", "NCIT:C4483", "SCTID:254770007", "UMLS:C0346066"]}
{"category": ["biolink:Disease"], "description": "A rare neurofibroma with epithelioid morphology.", "id": "MONDO:0003302", "name": "Epithelioid neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelioid neurofibroma"], "xref": ["DOID:5149", "GARD:0023437", "ICD9:215.9", "MEDGEN:226902", "NCIT:C6558", "SCTID:404032008", "UMLS:C1275264"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.", "id": "MONDO:0003303", "name": "Neurofibroma of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder neurofibroma", "gallbladder neurofibroma", "neurofibroma of gall bladder", "neurofibroma of gallbladder", "neurofibroma of the gallbladder"], "xref": ["DOID:5150", "GARD:0023438", "MEDGEN:232540", "NCIT:C5746", "UMLS:C1333751"]}
{"category": ["biolink:Disease"], "description": "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)", "id": "MONDO:0003304", "name": "Plexiform neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["plexiform neurofibroma", "plexiform neurofibroma (disease)"], "xref": ["DOID:5151", "GARD:0023439", "HP:0009732", "ICD9:215.9", "ICDO:9550/0", "MEDGEN:64640", "MESH:D018318", "NCIT:C3797", "SCTID:403818001", "UMLS:C0206728"]}
{"category": ["biolink:Disease"], "description": "A neurofibroma characterized by the presence of areas with increased cellularity.", "id": "MONDO:0003305", "name": "Cellular neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cellular neurofibroma"], "xref": ["DOID:5152", "GARD:0023440", "MEDGEN:275699", "NCIT:C41427", "UMLS:C1516371"]}
{"category": ["biolink:Disease"], "description": "A neurofibroma characterized by the presence of cellular pleomorphism.", "id": "MONDO:0003306", "name": "Atypical neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5153", "GARD:0023441", "MEDGEN:267320", "NCIT:C41426", "UMLS:C1510961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003307", "name": "Multiple mucosal neuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5155", "MEDGEN:233722", "NCIT:C6559", "UMLS:C1334828"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.", "id": "MONDO:0003308", "name": "Pleural mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesothelioma of pleura", "mesothelioma of the pleura", "pleura mesothelioma", "pleural mesothelioma", "pleural mesothelioma (disease)"], "xref": ["DOID:5157", "EFO:1000485", "HP:0100002", "ICD10CM:C45.0", "MEDGEN:237179", "NCIT:C9351", "ONCOTREE:PLMESO", "SCTID:109372009", "UMLS:C1377913"]}
{"category": ["biolink:Disease"], "description": "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.", "id": "MONDO:0003310", "name": "Monckeberg arteriosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mönckeberg arteriosclerosis"], "xref": ["DOID:5161", "MEDGEN:165784", "NCIT:C35770", "UMLS:C0887866"]}
{"category": ["biolink:Disease"], "description": "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).", "id": "MONDO:0003311", "name": "Endometrial stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial stroma neoplasm", "endometrial stroma tumor", "endometrial stroma tumour", "endometrial stromal tumor (morphologic abnormality)", "endometrial stromal tumour (morphologic abnormality)", "neoplasm of endometrial stroma", "tumor of endometrial stroma", "tumour of endometrial stroma"], "xref": ["DOID:5166", "EFO:1000920", "ICD9:239.5", "MEDGEN:87280", "MESH:D036821", "SCTID:446887007", "UMLS:C0334695"]}
{"category": ["biolink:Disease"], "description": "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.", "id": "MONDO:0003312", "name": "Ovarian endometrioid stromal and related neoplasms", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrioid stromal and related neoplasms of ovary", "ovarian endometrioid stromal and related neoplasms", "ovary endometrioid stromal and related neoplasms"], "xref": ["DOID:5169", "MEDGEN:926076", "NCIT:C40065", "UMLS:C4288544"]}
{"category": ["biolink:Disease"], "description": "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.", "id": "MONDO:0003313", "name": "Endometrioid stromal sarcoma of the vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["endometrioid stromal sarcoma of the vagina", "endometrioid stromal sarcoma of vagina", "vagina endometrioid stromal sarcoma"], "xref": ["DOID:5170", "GARD:0023442", "MEDGEN:770969", "NCIT:C40270", "UMLS:C3642329"]}
{"category": ["biolink:Disease"], "description": "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.", "id": "MONDO:0003314", "name": "Endometrioid stromal and related neoplasms of the vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrioid stromal and related neoplasms of the vagina", "endometrioid stromal and related neoplasms of vagina", "endometrioid stromal and related tumors of the vagina", "endometrioid stromal and related tumours of the vagina", "vagina endometrioid stromal and related neoplasms"], "xref": ["DOID:5171", "MEDGEN:927117", "NCIT:C40269", "UMLS:C4289585"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a endometrium.", "id": "MONDO:0003315", "name": "Endometrium carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of endometrium", "endometrium in situ carcinoma", "stage 0 endometrium carcinoma"], "xref": ["DOID:5172", "ICD10CM:D07.0", "ICD9:233.2", "MEDGEN:87545", "SCTID:92582009", "UMLS:C0346191"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.", "id": "MONDO:0003316", "name": "Nonanaplastic kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonanaplastic kidney Wilms tumor", "nonanaplastic renal Wilm's tumor", "nonanaplastic renal Wilm's tumour", "nonanaplastic renal Wilms tumor", "nonanaplastic renal Wilms tumour", "nonanaplastic renal Wilms' tumor", "nonanaplastic renal Wilms' tumour"], "xref": ["GARD:0023443", "MEDGEN:277434", "NCIT:C6951", "UMLS:C1335062"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.", "id": "MONDO:0003317", "name": "Metachronous kidney wilms' tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["metachronous Wilms tumor", "metachronous Wilms tumor of the kidney", "metachronous Wilms tumour", "metachronous Wilms tumour of the kidney", "metachronous Wilms' tumor", "metachronous Wilms' tumour"], "xref": ["DOID:5178", "GARD:0023444", "MEDGEN:233696", "NCIT:C38158", "UMLS:C1334705"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).", "id": "MONDO:0003318", "name": "Mixed cell type kidney wilms' tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Mixed cell type Wilms tumor", "Mixed cell type Wilms tumour", "mixed cell type kidney Wilms tumor", "mixed cell type kidney Wilms tumour", "mixed cell type kidney adenosarcoma", "mixed cell type nephroblastoma", "mixed cell type renal Wilm's tumor", "mixed cell type renal Wilm's tumour", "mixed cell type renal Wilms tumor", "mixed cell type renal Wilms' tumor", "mixed cell type renal Wilms' tumour", "mixed cell type renal adenosarcoma"], "xref": ["DOID:5179", "GARD:0023445", "MEDGEN:76001", "NCIT:C9149", "UMLS:C0279611"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the scrotum.", "id": "MONDO:0003319", "name": "Scrotum neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of scrotum", "neoplasm of the scrotum", "scrotal neoplasm", "scrotal tumor", "scrotal tumour", "scrotum neoplasm (disease)", "scrotum tumor", "scrotum tumour", "tumor of scrotum", "tumor of the scrotum", "tumour of scrotum", "tumour of the scrotum"], "xref": ["DOID:518", "ICD9:239.5", "MEDGEN:83328", "NCIT:C4380", "SCTID:126905005", "UMLS:C0341790"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney characterized by the predominance of the blastema component.", "id": "MONDO:0003320", "name": "Blastema predominant kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["blastema predominant Wilms tumor", "blastema predominant Wilms tumour", "blastema predominant kidney Wilms tumor", "blastema predominant kidney adenosarcoma", "blastema predominant nephroblastoma", "blastema predominant renal Wilm's tumor", "blastema predominant renal Wilm's tumour", "blastema predominant renal Wilms tumor", "blastema predominant renal Wilms' tumor", "blastema predominant renal Wilms' tumour", "blastema predominant renal adenosarcoma"], "xref": ["DOID:5182", "GARD:0023446", "MEDGEN:83528", "NCIT:C9147", "UMLS:C0279609"]}
{"category": ["biolink:Disease"], "description": "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)", "id": "MONDO:0003321", "name": "Hereditary wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["familial Wilms tumor", "familial Wilms tumour", "familial Wilms' tumor", "familial Wilms' tumour", "hereditary Wilms tumor", "hereditary kidney adenosarcoma", "hereditary nephroblastoma", "hereditary renal adenosarcoma"], "xref": ["DOID:5183", "GARD:0023447", "MEDGEN:146190", "NCIT:C8496", "OMIMPS:194070", "UMLS:C0677779"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.", "id": "MONDO:0003322", "name": "Epithelial predominant wilms' tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelial predominant Wilms tumor", "epithelial predominant Wilms tumour", "epithelial predominant kidney Wilms tumor", "epithelial predominant kidney Wilms tumour", "epithelial predominant kidney adenosarcoma", "epithelial predominant nephroblastoma", "epithelial predominant renal Wilm's tumor", "epithelial predominant renal Wilm's tumour", "epithelial predominant renal Wilms tumor", "epithelial predominant renal Wilms' tumor", "epithelial predominant renal Wilms' tumour", "epithelial predominant renal adenosarcoma"], "xref": ["DOID:5189", "GARD:0023448", "MEDGEN:76000", "NCIT:C9146", "UMLS:C0279608"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.", "id": "MONDO:0003325", "name": "Nodular ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ganglioneuroblastoma, nodular"], "xref": ["DOID:5193", "GARD:0023449", "MEDGEN:309203", "NCIT:C42058", "UMLS:C1517445"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.", "id": "MONDO:0003326", "name": "Intermixed schwannian stroma-rich ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ganglioneuroblastoma, intermixed", "ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)"], "xref": ["DOID:5194", "GARD:0023450", "MEDGEN:274565", "NCIT:C42057", "UMLS:C1517444"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroblastoma arising from the peripheral nervous system.", "id": "MONDO:0003327", "name": "Peripheral ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PNS ganglioneuroblastoma", "ganglioneuroblastoma (disease) of peripheral nervous system", "peripheral ganglioneuroblastoma", "peripheral nervous system ganglioneuroblastoma", "peripheral nervous system ganglioneuroblastoma (disease)"], "xref": ["DOID:5195", "GARD:0023451", "MEDGEN:233850", "NCIT:C6594", "UMLS:C1335387"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.", "id": "MONDO:0003328", "name": "Fallopian tube adenomatoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube adenomatoid tumor"], "xref": ["DOID:5196", "GARD:0023452", "MEDGEN:273291", "NCIT:C40129", "UMLS:C1517110"]}
{"category": ["biolink:Disease"], "description": "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.", "id": "MONDO:0003329", "name": "Ureteral obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ureteral obstruction", "ureteral obstruction (disease)"], "xref": ["DOID:5199", "HP:0006000", "ICD9:593.4", "MEDGEN:12012", "MESH:D014517", "SCTID:20018005", "UMLS:C0041956"]}
{"category": ["biolink:Disease"], "description": "Blockage of the normal flow of contents of the urinary tract.", "id": "MONDO:0003330", "name": "Urinary tract obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obstructive uropathy", "urinary obstruction"], "xref": ["DOID:5200", "EFO:0009571", "ICD9:599.6", "ICD9:599.60", "MEDGEN:64247", "NANDO:2200178", "NCIT:C3675", "SCTID:7163005", "UMLS:C0178879"]}
{"category": ["biolink:Disease"], "description": "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.", "id": "MONDO:0003331", "name": "Ovarian monodermal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["monodermal teratoma", "monodermal teratoma (morphologic abnormality)", "ovarian monodermal teratoma"], "xref": ["DOID:5207", "GARD:0023453", "MEDGEN:266265", "NCIT:C7286", "UMLS:C1302569"]}
{"category": ["biolink:Disease"], "description": "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).", "id": "MONDO:0003332", "name": "Malignant struma ovarii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["struma ovarii, malignant", "struma ovarii, malignant (morphologic abnormality)"], "xref": ["DOID:5208", "GARD:0023454", "ICDO:9090/3", "MEDGEN:137777", "NCIT:C4291", "UMLS:C0334525"]}
{"category": ["biolink:Disease"], "description": "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.", "id": "MONDO:0003333", "name": "Benign struma ovarii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["benign struma ovarii", "struma ovarii, benign"], "xref": ["DOID:5209", "GARD:0023455", "NCIT:C40012"]}
{"category": ["biolink:Disease"], "description": "Polyneuropathy that is characterized by demyelination of axons.", "id": "MONDO:0003334", "name": "Demyelinating polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:5214", "GARD:0023456", "ICD9:356.9", "MEDGEN:82859", "NCIT:C27062", "SCTID:23414001", "UMLS:C0270922"]}
{"category": ["biolink:Disease"], "description": "Polyneuropathy that is persistent or long-standing in nature.", "id": "MONDO:0003335", "name": "Chronic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyneuropathy, chronic"], "xref": ["DOID:5221", "MEDGEN:223911", "NCIT:C36071", "UMLS:C1167650"]}
{"category": ["biolink:Disease"], "description": "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)", "id": "MONDO:0003336", "name": "Acute necrotizing encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["acute necrotizing encephalitis"], "xref": ["DOID:5222", "GARD:0013233", "ICD9:049.8", "MEDGEN:83264", "NCIT:C35383", "SCTID:111897007", "UMLS:C0338418"]}
{"category": ["biolink:Disease"], "description": "Acute encephalitis that is characterized by bleeding.", "id": "MONDO:0003337", "name": "Acute hemorrhagic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acute hemorrhagic encephalitis"], "xref": ["DOID:5224", "GARD:0023458", "MEDGEN:231027", "NCIT:C35796", "UMLS:C1332149"]}
{"category": ["biolink:Disease"], "description": "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.", "id": "MONDO:0003340", "name": "Malignant glomus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glomangiosarcoma", "glomus tumor, malignant", "malignant glomus neoplasm", "malignant glomus tumor"], "xref": ["DOID:5233", "GARD:0023459", "ICDO:8710/3", "ICDO:8711/3", "MEDGEN:226840", "NCIT:C4221", "ONCOTREE:MGST", "UMLS:C1266111"]}
{"category": ["biolink:Disease"], "description": "A glomus tumor arising in the finger and usually associated with pain.", "id": "MONDO:0003341", "name": "Subungual glomus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["subungual glomus tumor"], "xref": ["DOID:5236", "GARD:0023460", "ICD9:228.09", "MEDGEN:266273", "NCIT:C36079", "SCTID:403973004", "UMLS:C1304510"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.", "id": "MONDO:0003342", "name": "Benign perivascular tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Pericytic neoplasm", "benign Pericytic tumor", "benign Pericytic tumour", "benign pericytic neoplasm", "benign perivascular neoplasm", "benign perivascular tumor", "pericytic neoplasm, benign"], "xref": ["DOID:5238", "MEDGEN:231437", "NCIT:C6529", "UMLS:C1332532"]}
{"category": ["biolink:Disease"], "description": "A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.", "id": "MONDO:0003343", "name": "Retinal hemangioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hemangioblastoma of vasculature of retina", "retinal capillary hemangioblastoma", "retinal hemangioblastoma", "vasculature of retina hemangioblastoma"], "xref": ["DOID:5240", "GARD:0023461", "MEDGEN:152677", "NCIT:C39783", "UMLS:C0730303"]}
{"category": ["biolink:Disease"], "description": "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.", "id": "MONDO:0003345", "name": "Hilar cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Klatskin tumor", "Klatskin's tumor", "cholangiocarcinoma of hilar portion of hepatic duct", "hilar CC", "hilar CCA", "hilar cholangiocarcinoma", "hilar portion of hepatic duct cholangiocarcinoma"], "xref": ["DOID:4927", "DOID:5246", "EFO:1001959", "GARD:0010175", "MEDGEN:878855", "MESH:D018285", "NCIT:C36077", "Orphanet:99978", "SCTID:253017000", "UMLS:C4045991", "icd11.foundation:1571104786"]}
{"category": ["biolink:Disease"], "description": "Vasculitis affecting the blood vessels of the brain and/or spinal cord.", "id": "MONDO:0003346", "name": "Central nervous system vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["central nervous system vasculitis", "vasculitis of central nervous system"], "xref": ["DOID:525", "GARD:0023462", "MEDGEN:148408", "MESH:D020293", "NCIT:C84622", "UMLS:C0751878"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.", "id": "MONDO:0003347", "name": "Inflammatory leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inflammatory leiomyosarcoma"], "xref": ["DOID:5251", "GARD:0023463", "MEDGEN:233554", "NCIT:C27495", "UMLS:C1334179"]}
{"category": ["biolink:Disease"], "description": "An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.", "id": "MONDO:0003348", "name": "Conventional leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classic leiomyosarcoma", "conventional leiomyosarcoma"], "xref": ["DOID:5253", "GARD:0023464", "MEDGEN:232394", "NCIT:C9428", "UMLS:C1333157"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003349", "name": "Central nervous system leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS leiomyosarcoma", "central nervous system leiomyosarcoma", "leiomyosarcoma of CNS", "leiomyosarcoma of central nervous system", "leiomyosarcoma of the CNS", "leiomyosarcoma of the central nervous system"], "xref": ["DOID:5254", "GARD:0023465", "MEDGEN:235254", "NCIT:C6999", "UMLS:C1334385"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.", "id": "MONDO:0003350", "name": "Granular cell leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["granular cell leiomyosarcoma"], "xref": ["DOID:5258", "GARD:0023466", "MEDGEN:234321", "NCIT:C27494", "UMLS:C1333871"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003351", "name": "Colon leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colon leiomyosarcoma", "colonic leiomyosarcoma", "leiomyosarcoma of colon", "leiomyosarcoma of the colon"], "xref": ["DOID:5259", "GARD:0023467", "MEDGEN:232380", "NCIT:C5494", "UMLS:C1333093", "icd11.foundation:1612353121"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.", "id": "MONDO:0003352", "name": "Colon sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colon sarcoma", "colonic sarcoma", "sarcoma of colon", "sarcoma of the colon"], "xref": ["DOID:5260", "MEDGEN:272493", "NCIT:C5495", "UMLS:C1333098"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003353", "name": "Heart leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cardiac leiomyosarcoma", "heart leiomyosarcoma", "leiomyosarcoma of heart", "leiomyosarcoma of the heart"], "xref": ["DOID:5261", "GARD:0023468", "MEDGEN:234095", "NCIT:C5364", "UMLS:C1332848"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.", "id": "MONDO:0003354", "name": "Heart sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cardiac sarcoma", "cardiac sarcoma", "heart sarcoma", "sarcoma of heart", "sarcoma of the heart"], "xref": ["DOID:5262", "GARD:0023469", "MEDGEN:68657", "NCIT:C7723", "UMLS:C0238152"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003355", "name": "Ovary leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leiomyosarcoma of ovary", "leiomyosarcoma of the ovary", "ovarian leiomyosarcoma", "ovary leiomyosarcoma"], "xref": ["DOID:5263", "EFO:0006718", "GARD:0023470", "MEDGEN:233275", "NCIT:C5234", "UMLS:C1335163"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.", "id": "MONDO:0003356", "name": "Epithelioid leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelioid leiomyosarcoma"], "xref": ["DOID:5264", "GARD:0023471", "ICDO:8891/3", "MEDGEN:61454", "NCIT:C3700", "UMLS:C0205815"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003357", "name": "Lung leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of lung", "leiomyosarcoma of the lung", "lung leiomyosarcoma", "pulmonary leiomyosarcoma"], "xref": ["DOID:5265", "GARD:0023472", "MEDGEN:232711", "NCIT:C5667", "UMLS:C1334448"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003358", "name": "Anus leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal leiomyosarcoma", "anus leiomyosarcoma", "leiomyosarcoma of anus", "leiomyosarcoma of the anus"], "xref": ["DOID:5267", "GARD:0023473", "MEDGEN:231370", "NCIT:C5599", "UMLS:C1332267"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.", "id": "MONDO:0003359", "name": "Myxoid leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myxoid leiomyosarcoma", "myxoid leiomyosarcoma (morphologic abnormality)"], "xref": ["DOID:5268", "GARD:0023474", "ICDO:8896/3", "MEDGEN:104725", "NCIT:C3701", "UMLS:C0205816"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003360", "name": "Small intestine leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["leiomyosarcoma of small bowel", "leiomyosarcoma of small intestine", "leiomyosarcoma of the small bowel", "leiomyosarcoma of the small intestine", "small bowel leiomyosarcoma", "small intestinal leiomyosarcoma", "small intestine leiomyosarcoma"], "xref": ["DOID:5271", "GARD:0019852", "MEDGEN:183086", "NCIT:C7085", "Orphanet:104076", "SCTID:716651004", "UMLS:C0920305", "icd11.foundation:389419378"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.", "id": "MONDO:0003361", "name": "Small intestinal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sarcoma of small bowel", "sarcoma of small intestine", "sarcoma of the small bowel", "sarcoma of the small intestine", "sarcoma, small intestinal", "small bowel sarcoma", "small intestinal sarcoma", "small intestine sarcoma"], "xref": ["DOID:5272", "GARD:0023475", "MEDGEN:233455", "NCIT:C5335", "UMLS:C1336007"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003362", "name": "Cutaneous leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous leiomyosarcoma", "cutaneous leiomyosarcoma (disease)", "leiomyosarcoma of skin", "leiomyosarcoma of the skin", "leiomyosarcoma of zone of skin", "skin leiomyosarcoma", "zone of skin leiomyosarcoma"], "xref": ["DOID:5273", "GARD:0023476", "HP:0006755", "MEDGEN:87534", "NCIT:C4484", "SCTID:254771006", "UMLS:C0346067", "icd11.foundation:1653448241"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the dermis.", "id": "MONDO:0003363", "name": "Malignant dermis tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of dermis", "dermis cancer", "malignant dermal neoplasm", "malignant dermis neoplasm", "malignant dermis tumor", "malignant neoplasm of dermis", "malignant neoplasm of the dermis", "malignant tumor of dermis", "malignant tumor of the dermis", "malignant tumour of the dermis"], "xref": ["DOID:5274", "GARD:0023477", "MEDGEN:87564", "NCIT:C4574", "SCTID:255096006", "UMLS:C0346811"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003364", "name": "Gallbladder leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder leiomyosarcoma", "gallbladder leiomyosarcoma", "leiomyosarcoma of gall bladder", "leiomyosarcoma of gallbladder", "leiomyosarcoma of the gallbladder"], "xref": ["DOID:5275", "GARD:0023478", "MEDGEN:234291", "NCIT:C5841", "UMLS:C1333746"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003365", "name": "Esophagus leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal leiomyosarcoma", "esophagus leiomyosarcoma", "leiomyosarcoma of esophagus", "leiomyosarcoma of oesophagus", "leiomyosarcoma of the esophagus", "leiomyosarcoma of the oesophagus"], "xref": ["DOID:5276", "GARD:0023479", "MEDGEN:272589", "NCIT:C5334", "UMLS:C1333454", "icd11.foundation:1419925892"]}
{"category": ["biolink:Disease"], "description": "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)", "id": "MONDO:0003366", "name": "Hydrarthrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:528", "ICD9:719.00", "ICD9:719.08", "MEDGEN:222181", "MESH:D006833", "SCTID:387637008", "UMLS:C1253936"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003367", "name": "Gastric leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric leiomyosarcoma", "gastric leiomyosarcoma (disease)", "leiomyosarcoma of stomach", "stomach leiomyosarcoma"], "xref": ["DOID:5280", "GARD:0023480", "HP:0031025", "MEDGEN:196652", "NCIT:C27200", "SCTID:447785000", "UMLS:C0744295", "icd11.foundation:399434138"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003368", "name": "Prostate leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of prostate", "leiomyosarcoma of prostate gland", "leiomyosarcoma of the prostate", "prostate gland leiomyosarcoma", "prostate leiomyosarcoma"], "xref": ["DOID:5282", "GARD:0023481", "MEDGEN:233876", "NCIT:C5526", "UMLS:C1335511"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003369", "name": "Vagina leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of the vagina", "leiomyosarcoma of vagina", "vagina leiomyosarcoma", "vaginal leiomyosarcoma"], "xref": ["DOID:5283", "GARD:0023482", "MEDGEN:277860", "NCIT:C6326", "UMLS:C1336940"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003370", "name": "Retroperitoneal leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of retroperitoneal space", "retroperitoneal leiomyosarcoma", "retroperitoneal space leiomyosarcoma"], "xref": ["DOID:5284", "GARD:0023483", "MEDGEN:412162", "NCIT:C27904", "UMLS:C2187547"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003371", "name": "Breast leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast leiomyosarcoma", "leiomyosarcoma of breast", "leiomyosarcoma of the breast"], "xref": ["DOID:5285", "GARD:0023484", "MEDGEN:234050", "NCIT:C5186", "UMLS:C1332631"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003372", "name": "Vulvar leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leiomyosarcoma of mammalian vulva", "mammalian vulva leiomyosarcoma"], "xref": ["DOID:5286", "EFO:1001975", "GARD:0023485", "MEDGEN:378348", "NCIT:C40318", "UMLS:C2168304"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003373", "name": "Kidney leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["kidney leiomyosarcoma", "leiomyosarcoma of kidney", "leiomyosarcoma of the kidney", "renal leiomyosarcoma"], "xref": ["DOID:5287", "GARD:0023486", "MEDGEN:235545", "NCIT:C6183", "UMLS:C1335743"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003374", "name": "Laryngeal leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal leiomyosarcoma", "larynx leiomyosarcoma", "leiomyosarcoma of larynx", "leiomyosarcoma of the larynx"], "xref": ["DOID:5288", "GARD:0023487", "MEDGEN:272791", "NCIT:C6022", "UMLS:C1334371"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003376", "name": "Mediastinum leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leiomyosarcoma of mediastinum", "leiomyosarcoma of the mediastinum", "mediastinal leiomyosarcoma", "mediastinum leiomyosarcoma"], "xref": ["DOID:5292", "GARD:0023488", "MEDGEN:235310", "NCIT:C6619", "UMLS:C1334660"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003377", "name": "Extrahepatic bile duct leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct leiomyosarcoma", "extrahepatic bile duct leiomyosarcoma", "leiomyosarcoma of bile duct", "leiomyosarcoma of extrahepatic bile duct", "leiomyosarcoma of the bile duct", "leiomyosarcoma of the extrahepatic bile duct"], "xref": ["DOID:5293", "GARD:0023489", "MEDGEN:232481", "NCIT:C5848", "UMLS:C1333508"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003378", "name": "Liver leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hepatic leiomyosarcoma", "leiomyosarcoma of liver", "leiomyosarcoma of the liver", "liver leiomyosarcoma"], "xref": ["DOID:5296", "GARD:0023490", "MEDGEN:272707", "NCIT:C5756", "UMLS:C1333969"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0003379", "name": "Rectum leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of rectum", "leiomyosarcoma of the rectum", "rectal leiomyosarcoma", "rectum leiomyosarcoma"], "xref": ["DOID:5297", "GARD:0023491", "MEDGEN:233391", "NCIT:C5549", "UMLS:C1335683", "icd11.foundation:905391296"]}
{"category": ["biolink:Disease"], "description": "A disease involving the pituitary gland.", "id": "MONDO:0003381", "name": "Pituitary gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of pituitary gland", "disease or disorder of pituitary gland", "disorder of pituitary gland", "pituitary gland disease", "pituitary gland disease or disorder", "pituitary gland disorder"], "xref": ["DOID:53", "EFO:0009607", "ICD9:253.1", "ICD9:253.8", "ICD9:253.9", "MEDGEN:45934", "MESH:D010900", "NCIT:C26854", "SCTID:399244003", "UMLS:C0032002"]}
{"category": ["biolink:Disease"], "description": "A disease involving the eyelid.", "id": "MONDO:0003382", "name": "Eyelid disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of eyelid", "disease or disorder of eyelid", "disorder of eyelid", "eyelid disease", "eyelid disease or disorder", "eyelid disorder"], "xref": ["DOID:530", "EFO:0009547", "ICD10CM:H00", "ICD9:374.89", "ICD9:374.9", "MEDGEN:41938", "MESH:D005141", "NCIT:C26768", "SCTID:60113004", "UMLS:C0015423"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.", "id": "MONDO:0003383", "name": "Fallopian tube clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["clear cell adenocarcinoma of fallopian tube", "clear cell adenocarcinoma of the fallopian tube", "clear cell carcinoma of fallopian tube", "clear cell carcinoma of the fallopian tube", "fallopian tube clear cell adenocarcinoma", "fallopian tube clear cell carcinoma"], "xref": ["DOID:5301", "GARD:0023492", "MEDGEN:232184", "NCIT:C6280", "UMLS:C1333591"]}
{"category": ["biolink:Disease"], "description": "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.", "id": "MONDO:0003384", "name": "Uterine ligament clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["uterine ligament clear cell adenocarcinoma"], "xref": ["DOID:5302", "GARD:0023493", "NCIT:C40139"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.", "id": "MONDO:0003386", "name": "Bladder clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder clear cell adenocarcinoma", "urinary bladder clear cell adenocarcinoma"], "xref": ["DOID:5306", "MEDGEN:272370", "NCIT:C6179", "UMLS:C1332557"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.", "id": "MONDO:0003387", "name": "Urethra clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["clear cell adenocarcinoma of the urethra", "clear cell adenocarcinoma of urethra", "urethra clear cell adenocarcinoma", "urethral clear cell adenocarcinoma"], "xref": ["DOID:5307", "GARD:0027638", "MEDGEN:277846", "NCIT:C6172", "UMLS:C1336886"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.", "id": "MONDO:0003388", "name": "Ampulla of vater clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater clear cell adenocarcinoma", "hepatopancreatic ampulla clear cell adenocarcinoma"], "xref": ["DOID:5308", "GARD:0023494", "MEDGEN:233972", "NCIT:C27414", "UMLS:C1332246"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.", "id": "MONDO:0003389", "name": "Epithelial-myoepithelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["epithelial-myoepithelial carcinoma"], "xref": ["DOID:5309", "GARD:0027639", "ICDO:8562/3", "MEDGEN:90776", "NCIT:C4199", "ONCOTREE:EMYOCA", "UMLS:C0334392"]}
{"category": ["biolink:Disease"], "description": "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.", "id": "MONDO:0003390", "name": "Glycogen-rich clear cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glycogen-rich, clear cell breast carcinoma"], "xref": ["DOID:5310", "ICDO:8315/3", "MEDGEN:1785052", "NCIT:C40368", "UMLS:C2012261"]}
{"category": ["biolink:Disease"], "description": "An alveolar soft part sarcoma arising from the vulva.", "id": "MONDO:0003391", "name": "Vulvar alveolar soft part sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5313", "GARD:0023495", "MEDGEN:276988", "NCIT:C40320", "UMLS:C1520069"]}
{"category": ["biolink:Disease"], "description": "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.", "id": "MONDO:0003392", "name": "Fallopian tube germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube germ cell neoplasm", "fallopian tube germ cell tumor"], "xref": ["DOID:5324", "GARD:0023496", "MEDGEN:274487", "NCIT:C40130", "UMLS:C1517114"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.", "id": "MONDO:0003393", "name": "Thymus gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus disorder", "disease of thymus", "disease or disorder of thymus", "disorder of thymus", "disorder of thymus gland", "thymus disease", "thymus disease or disorder"], "xref": ["DOID:533", "GARD:0023497", "ICD9:254", "ICD9:254.9", "MEDGEN:57585", "NCIT:C26962", "SCTID:20673009", "UMLS:C0154199"]}
{"category": ["biolink:Disease"], "description": "A disease involving the dental pulp.", "id": "MONDO:0003394", "name": "Dental pulp disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dental pulp disease", "dental pulp disease or disorder", "dental pulp disorder", "disease of dental pulp", "disease or disorder of dental pulp", "disorder of dental pulp"], "xref": ["DOID:5330", "EFO:0009540", "ICD9:522.9", "MEDGEN:8305", "MESH:D003788", "NCIT:C34530", "SCTID:57203004", "UMLS:C0011405"]}
{"category": ["biolink:Disease"], "description": "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.", "id": "MONDO:0003395", "name": "Testicular granulosa cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["granulosa cell tumor of testis", "testicular granulosa cell tumor", "testis granulosa cell tumor", "testis granulosa cell tumour"], "xref": ["DOID:5331", "GARD:0023498", "MEDGEN:237001", "NCIT:C6357", "UMLS:C1336709"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic nodular lesion that arises from the gingiva.", "id": "MONDO:0003396", "name": "Epulis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gingiva polyp", "gingival polyp", "gum polyp", "polyp of gingiva", "polyp of gum", "polyp of the gingiva", "polyp of the gum"], "xref": ["DOID:5337", "ICD9:523.8", "MEDGEN:82751", "NCIT:C3948", "SCTID:45676007", "UMLS:C0266919", "icd11.foundation:1849228776"]}
{"category": ["biolink:Disease"], "description": "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.", "id": "MONDO:0003397", "name": "Gingival hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5338", "MEDGEN:6603", "MESH:D005886", "UMLS:C0017567"]}
{"category": ["biolink:Disease"], "description": "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)", "id": "MONDO:0003398", "name": "Anterograde amnesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5340", "ICD10CM:R41.1", "MEDGEN:115938", "MESH:D020324", "UMLS:C0233795", "icd11.foundation:661071789"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that involves the pineal body.", "id": "MONDO:0003399", "name": "Pineal region yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pineal body yolk sac tumor", "pineal body yolk sac tumour", "pineal region yolk Sac neoplasm", "pineal region yolk sac tumor"], "xref": ["DOID:5341", "GARD:0023499", "MEDGEN:277518", "NCIT:C6752", "UMLS:C1335420"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that occurs during childhood.", "id": "MONDO:0003400", "name": "Childhood endodermal sinus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood endodermal sinus neoplasm", "childhood endodermal sinus tumor", "pediatric yolk Sac tumor"], "xref": ["DOID:5342", "GARD:0023500", "MEDGEN:234139", "NCIT:C27364", "UMLS:C1333016"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0003401", "name": "Central nervous system endodermal sinus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system endodermal sinus tumor", "childhood central nervous system endodermal sinus neoplasm", "childhood central nervous system endodermal sinus tumor", "childhood central nervous system endodermal sinus tumour", "paediatric central nervous system endodermal sinus neoplasm", "pediatric central nervous system endodermal sinus neoplasm"], "xref": ["DOID:5343", "GARD:0023501", "MEDGEN:234604", "NCIT:C6209", "UMLS:C1377613"]}
{"category": ["biolink:Disease"], "description": "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.", "id": "MONDO:0003402", "name": "Testicular yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["testicular yolk Sac neoplasm", "testicular yolk sac tumor", "testis yolk sac tumor", "testis yolk sac tumour"], "xref": ["DOID:5344", "EFO:1000574", "GARD:0023502", "MEDGEN:79028", "NCIT:C8000", "ONCOTREE:TYST", "UMLS:C0279708"]}
{"category": ["biolink:Disease"], "description": "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.", "id": "MONDO:0003403", "name": "Testicular non-seminomatous germ cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant non-seminomatous germ cell cancer of testis", "malignant non-seminomatous germ cell cancer of the testis", "malignant non-seminomatous germ cell neoplasm of testis", "malignant non-seminomatous germ cell neoplasm of the testis", "malignant non-seminomatous germ cell tumor of testis", "malignant non-seminomatous germ cell tumor of the testis", "malignant non-seminomatous germ cell tumour of testis", "malignant non-seminomatous germ cell tumour of the testis", "malignant testicular non-seminomatous germ cell neoplasm", "malignant testicular non-seminomatous germ cell tumor", "malignant testicular non-seminomatous germ cell tumour", "testicular germ cell tumor non-seminomatous, malignant", "testicular germ cell tumour non-seminomatous, malignant", "testicular non-seminomatous germ cell cancer", "testicular non-seminomatous germ cell tumor, malignant", "testicular non-seminomatous malignant germ cell neoplasm"], "xref": ["DOID:5345", "GARD:0023503", "MEDGEN:233162", "NCIT:C5027", "UMLS:C1334625"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that occurs in an adult.", "id": "MONDO:0003404", "name": "Adult yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult endodermal sinus neoplasm", "adult endodermal sinus tumor", "adult endodermal sinus tumour", "adult yolk Sac neoplasm", "adult yolk Sac tumor", "adult yolk Sac tumour", "yolk sac tumor of adults", "yolk sac tumour of adults"], "xref": ["DOID:5348", "GARD:0023504", "MEDGEN:231046", "NCIT:C27241", "UMLS:C1332221"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor of the central nervous system occurring in adults.", "id": "MONDO:0003405", "name": "Adult central nervous system germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult CNS germ cell neoplasm", "adult CNS germ cell tumor", "adult CNS germ cell tumour", "adult central nervous system germ cell neoplasm", "adult central nervous system germ cell tumor", "central nervous system germ cell tumor of adults", "central nervous system germ cell tumour of adults", "germ cell neoplasm of adult CNS", "germ cell neoplasm of adult central nervous system", "germ cell neoplasm of the adult CNS", "germ cell neoplasm of the adult central nervous system", "germ cell tumor of adult CNS", "germ cell tumor of adult central nervous system", "germ cell tumor of the adult CNS", "germ cell tumor of the adult central nervous system", "germ cell tumour of adult CNS", "germ cell tumour of adult central nervous system", "germ cell tumour of the adult central nervous system"], "xref": ["DOID:5349", "GARD:0023505", "MEDGEN:128893", "NCIT:C6285", "UMLS:C0280796"]}
{"category": ["biolink:Disease"], "description": "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. These can include dyssomnias such as circadian rhythm disorders, hypersomnia, and sleep apnea and parasomnias such as bruxism and rapid eye movement sleep disorder.", "id": "MONDO:0003406", "name": "Sleep-wake disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of sleep-wake cycle", "sleep wake disorder"], "xref": ["DOID:535", "ICD10CM:G47", "ICD9:307.4", "ICD9:307.40", "ICD9:307.49", "MEDGEN:875755", "MESH:D012893", "SCTID:39898005", "UMLS:C4042891"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.", "id": "MONDO:0003408", "name": "Ovarian primitive germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian primitive germ cell tumor"], "xref": ["DOID:5351", "GARD:0023506", "MEDGEN:275291", "NCIT:C39986", "UMLS:C1518727"]}
{"category": ["biolink:Disease"], "description": "Pathological processes in the colon region of the large intestine (intestine, large).", "id": "MONDO:0003409", "name": "Colonic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon disease", "colon disease or disorder", "disease of colon", "disease or disorder of colon", "disorder of colon"], "xref": ["DOID:5353", "MEDGEN:1049", "MESH:D003108", "SCTID:128524007", "UMLS:C0009373"]}
{"category": ["biolink:Disease"], "description": "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.", "id": "MONDO:0003410", "name": "Wolffian duct adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical mesonephric adenocarcinoma", "mesonephric duct adenocarcinoma"], "xref": ["DOID:5368", "GARD:0023507", "MEDGEN:273908", "NCIT:C40254", "UMLS:C1516419"]}
{"category": ["biolink:Disease"], "description": "A hemangiopericytoma arising from the breast.", "id": "MONDO:0003411", "name": "Breast hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast hemangiopericytoma", "breast spindle cell tumor", "breast spindle cell tumour"], "xref": ["DOID:5370", "MEDGEN:267766", "NCIT:C40396", "UMLS:C1511313"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant hemangiopericytoma arising from the retroperitoneum.", "id": "MONDO:0003412", "name": "Retroperitoneal hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retroperitoneal space hemangiopericytoma"], "xref": ["DOID:5373", "MEDGEN:277597", "NCIT:C5386", "UMLS:C1335777"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from the hair follicle.", "id": "MONDO:0003413", "name": "Hair follicle neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hair follicle neoplasm", "hair follicle neoplasm (disease)", "hair follicle tumor", "hair follicle tumour", "neoplasm of hair follicle", "neoplasm of the hair follicle", "tumor of hair follicle", "tumour of hair follicle"], "xref": ["DOID:5375", "MEDGEN:167814", "NCIT:C7367", "UMLS:C0859920"]}
{"category": ["biolink:Disease"], "description": "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.", "id": "MONDO:0003414", "name": "Skin pilomatrix carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Pilomatrical carcinoma", "Trichomatrical carcinoma", "calcified epithelial carcinoma of Malherbe", "calcifying epitheliocarcinoma", "invasive pilomatrixoma", "malignant pilomatricoma", "matrical carcinoma", "pilomatrix carcinoma", "pilomatrix carcinoma of skin", "pilomatrix carcinoma of the skin", "pilomatrix skin carcinoma"], "xref": ["DOID:5376", "GARD:0022042", "ICDO:8110/3", "MEDGEN:108439", "NCIT:C4114", "Orphanet:499182", "SCTID:307610008", "UMLS:C0585475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003417", "name": "Internuclear ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:538", "ICD10CM:H51.2", "ICD9:378.86", "MEDGEN:101820", "SCTID:49823009", "UMLS:C0152134", "icd11.foundation:377040542"]}
{"category": ["biolink:Disease"], "description": "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.", "id": "MONDO:0003419", "name": "Bartholin gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bartholin gland adenoma", "Bartholin's gland adenoma", "major vestibular gland adenoma"], "xref": ["DOID:5382", "MEDGEN:267025", "NCIT:C40299", "UMLS:C1511048"]}
{"category": ["biolink:Disease"], "description": "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.", "id": "MONDO:0003420", "name": "Bile duct cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bile duct cystadenoma", "bile duct cystadenoma (morphologic abnormality)", "bile duct mucinous cystic neoplasm", "cystadenoma of bile duct", "cystadenoma of the bile duct"], "xref": ["DOID:5384", "ICDO:8161/0", "MEDGEN:90756", "NCIT:C4129", "UMLS:C0334285"]}
{"category": ["biolink:Disease"], "description": "An adenoma characterized by the presence of a mixed epithelial cell population.", "id": "MONDO:0003421", "name": "Mixed cell adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed cell adenoma"], "xref": ["DOID:5385", "ICDO:8323/0", "MEDGEN:83131", "NCIT:C4157", "UMLS:C0334323"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.", "id": "MONDO:0003422", "name": "Lung adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of lung", "adenoma of the lung", "lung adenoma", "pulmonary adenoma"], "xref": ["DOID:5386", "MEDGEN:83394", "NCIT:C4455", "SCTID:254642004", "UMLS:C0345964"]}
{"category": ["biolink:Disease"], "description": "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.", "id": "MONDO:0003423", "name": "Middle ear adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["middle ear adenoma"], "xref": ["DOID:5387", "NCIT:C6834", "SCTID:734078009"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.", "id": "MONDO:0003424", "name": "Oncocytic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["oncocytic adenoma", "oxyphilic adenoma"], "xref": ["DOID:5389", "EFO:1001079", "ICDO:8290/0", "MEDGEN:307150", "NCIT:C3759", "UMLS:C1510502"]}
{"category": ["biolink:Disease"], "description": "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.", "id": "MONDO:0003425", "name": "Ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:539", "ICD9:378.56", "MEDGEN:45205", "MESH:D009886", "SCTID:78097002", "UMLS:C0029089", "icd11.foundation:1848588735"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm composed of glands containing epithelial clear cells.", "id": "MONDO:0003426", "name": "Clear cell adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma, clear cell, benign", "clear cell adenoma", "clear cell adenoma (morphologic abnormality)"], "xref": ["DOID:5390", "ICDO:8310/0", "MEDGEN:90761", "NCIT:C4151", "UMLS:C0334315"]}
{"category": ["biolink:Disease"], "description": "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.", "id": "MONDO:0003427", "name": "Bronchus adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of bronchus", "adenoma of the bronchus", "adenoma, bronchial, benign", "bronchial adenoma", "bronchial adenoma NOS (morphologic abnormality)", "bronchus adenoma", "lung papillary adenoma", "papillary adenoma of type II pneumocytes", "peripheral papillary tumor of type II pneumocytes", "peripheral papillary tumour of type II pneumocytes", "type II pneumocyte adenoma"], "xref": ["DOID:5391", "ICDO:8260/0", "MEDGEN:56206", "NCIT:C3494", "UMLS:C0149845"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the brain.", "id": "MONDO:0003428", "name": "Brain hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brain angioma", "brain hemangioma"], "xref": ["DOID:5393", "MEDGEN:116075", "NCIT:C7739", "UMLS:C0238814"]}
{"category": ["biolink:Disease"], "description": "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.", "id": "MONDO:0003429", "name": "Functioning pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["endocrine active pituitary adenoma", "functioning adenoma of pituitary", "functioning adenoma of pituitary gland", "functioning adenoma of the pituitary", "functioning adenoma of the pituitary gland", "functioning pituitary adenoma", "functioning pituitary gland adenoma", "functioning pituitary gland adenoma (benign)", "secreting pituitary adenoma", "secretory adenoma of pituitary", "secretory adenoma of pituitary gland", "secretory adenoma of the pituitary", "secretory adenoma of the pituitary gland", "secretory pituitary adenoma", "secretory pituitary gland adenoma"], "xref": ["DOID:5395", "GARD:0021389", "MEDGEN:163135", "NCIT:C8388", "Orphanet:314753", "UMLS:C0854486"]}
{"category": ["biolink:Disease"], "description": "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.", "id": "MONDO:0003430", "name": "Prolactin producing pituitary tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRL producing pituitary gland neoplasm", "prolactin producing neoplasm of pituitary", "prolactin producing neoplasm of pituitary gland", "prolactin producing neoplasm of the pituitary", "prolactin producing neoplasm of the pituitary gland", "prolactin producing pituitary gland neoplasm", "prolactin producing pituitary gland tumor", "prolactin producing pituitary gland tumour", "prolactin producing pituitary neoplasm", "prolactin producing tumor of pituitary", "prolactin producing tumor of pituitary gland", "prolactin producing tumor of the pituitary", "prolactin producing tumor of the pituitary gland", "prolactin producing tumour of pituitary", "prolactin producing tumour of pituitary gland", "prolactin producing tumour of the pituitary", "prolactin producing tumour of the pituitary gland", "prolactin secreting neoplasm of pituitary", "prolactin secreting neoplasm of pituitary gland", "prolactin secreting neoplasm of the pituitary", "prolactin secreting neoplasm of the pituitary gland", "prolactin secreting pituitary gland neoplasm", "prolactin secreting pituitary gland tumor", "prolactin secreting pituitary gland tumour", "prolactin secreting pituitary neoplasm", "prolactin secreting pituitary tumor", "prolactin secreting pituitary tumour", "prolactin secreting tumor of pituitary gland", "prolactin secreting tumor of the pituitary", "prolactin secreting tumor of the pituitary gland", "prolactin secreting tumour of pituitary gland", "prolactin secreting tumour of the pituitary", "prolactin secreting tumour of the pituitary gland", "prolactin-producing pituitary gland neoplasm", "prolactin-producing pituitary gland tumor", "prolactin-producing pituitary gland tumour"], "xref": ["DOID:5396", "GARD:0023508", "MEDGEN:82998", "NCIT:C7910", "UMLS:C0278863"]}
{"category": ["biolink:Disease"], "description": "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.", "id": "MONDO:0003431", "name": "Lipoadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenolipoma, benign", "lipoadenoma", "lipoadenoma (morphologic abnormality)"], "xref": ["DOID:5398", "ICDO:8324/0", "MEDGEN:83133", "NCIT:C4159", "UMLS:C0334325"]}
{"category": ["biolink:Disease"], "description": "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.", "id": "MONDO:0003432", "name": "Strabismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["squint", "strabismus"], "xref": ["DOID:540", "ICD9:378.40", "ICD9:378.7", "MEDGEN:21337", "MESH:D013285", "NCIT:C35040", "SCTID:22066006", "UMLS:C0038379"]}
{"category": ["biolink:Disease"], "description": "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.", "id": "MONDO:0003433", "name": "Water-clear cell adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["parathyroid gland water-clear cell adenoma", "water-clear cell adenoma (morphologic abnormality)"], "xref": ["DOID:5401", "ICDO:8322/0", "MEDGEN:83129", "NCIT:C4155", "UMLS:C0334321"]}
{"category": ["biolink:Disease"], "description": "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.", "id": "MONDO:0003434", "name": "Vaginal adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vagina adenoma", "vaginal adenoma"], "xref": ["DOID:5402", "MEDGEN:274377", "NCIT:C40256", "UMLS:C1519913"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.", "id": "MONDO:0003435", "name": "Microcystic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcystic adenoma", "microcystic adenoma (morphologic abnormality)"], "xref": ["DOID:5403", "ICDO:8202/0", "MEDGEN:64420", "NCIT:C3685", "UMLS:C0205648"]}
{"category": ["biolink:Disease"], "description": "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.", "id": "MONDO:0003437", "name": "Occult small cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["occult small cell carcinoma of lung", "occult small cell carcinoma of the lung", "occult small cell lung carcinoma"], "xref": ["DOID:5414", "GARD:0023509", "MEDGEN:233791", "NCIT:C6683", "UMLS:C1335099"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.", "id": "MONDO:0003438", "name": "Combined small cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["combined small and large cell lung cancer", "combined small and large cell lung carcinoma", "combined small cell and large cell lung carcinoma", "combined small cell carcinoma of lung", "combined small cell carcinoma of the lung", "combined small cell lung cancer", "combined small cell lung carcinoma", "combined type small cell carcinoma of lung", "combined type small cell carcinoma of the lung", "combined type small cell lung carcinoma", "mixed small cell and large cell carcinoma of lung", "mixed small cell and large cell carcinoma of the lung", "mixed small cell and large cell lung carcinoma", "small cell and large cell carcinoma of lung", "small cell and large cell carcinoma of the lung", "small cell and large cell lung carcinoma"], "xref": ["DOID:5421", "GARD:0023510", "ICDO:8045/3", "MEDGEN:234167", "NCIT:C9137", "ONCOTREE:CSCLC", "UMLS:C1333125", "icd11.foundation:392248394"]}
{"category": ["biolink:Disease"], "description": "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.", "id": "MONDO:0003439", "name": "Urinary bladder villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder villous adenoma", "urinary bladder villous adenoma", "villous adenoma of the urinary bladder", "villous adenoma of urinary bladder"], "xref": ["DOID:5427", "MEDGEN:234977", "NCIT:C7414", "UMLS:C1336893"]}
{"category": ["biolink:Disease"], "description": "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.", "id": "MONDO:0003441", "name": "Dystonic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dystonia", "dystonic disorder"], "xref": ["DOID:543", "GARD:0027640", "HP:0001332", "ICD10CM:G24", "ICD9:333.90", "MEDGEN:3940", "MESH:D020821", "NCIT:C34563", "SCTID:15802004", "UMLS:C0013421"]}
{"category": ["biolink:Disease"], "description": "A papillary epithelial neoplasm that involves the urinary bladder urothelium.", "id": "MONDO:0003442", "name": "Bladder papillary urothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder papillary transitional cell neoplasm", "bladder papillary urothelial neoplasm", "urinary bladder papillary transitional cell neoplasm", "urinary bladder papillary urothelial neoplasm", "urinary bladder urothelium papillary epithelial neoplasm"], "xref": ["DOID:5432", "MEDGEN:267741", "NCIT:C39857", "UMLS:C1511197"]}
{"category": ["biolink:Disease"], "description": "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003", "id": "MONDO:0003443", "name": "Papillary urothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary transitional cell neoplasm of the urinary tract", "papillary urothelial neoplasm", "urinary tract papillary transitional cell neoplasm", "urothelium papillary epithelial neoplasm"], "xref": ["DOID:5433", "MEDGEN:233837", "NCIT:C27883", "UMLS:C1335329"]}
{"category": ["biolink:Disease"], "description": "A rare adenoma that arises from the intrahepatic biliary tree.", "id": "MONDO:0003444", "name": "Intrahepatic bile duct adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of the intrahepatic bile duct", "adenoma, HEPATOCHOLANGIOCELLULAR, benign", "intrahepatic bile duct adenoma"], "xref": ["DOID:5437", "MEDGEN:272250", "NCIT:C7126", "UMLS:C1331535"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.", "id": "MONDO:0003445", "name": "Extrahepatic bile duct adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of extrahepatic bile duct", "adenoma of the extrahepatic bile duct", "extrahepatic bile duct adenoma"], "xref": ["DOID:5438", "MEDGEN:233098", "NCIT:C5857", "UMLS:C1331534", "icd11.foundation:1322471141"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.", "id": "MONDO:0003446", "name": "Papillary hidradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hidradenoma papilliferum"], "xref": ["DOID:5439", "ICDO:8405/0", "MEDGEN:87221", "NCIT:C4171", "SCTID:307597000", "UMLS:C0334348"]}
{"category": ["biolink:Disease"], "description": "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.", "id": "MONDO:0003447", "name": "Clear cell hidradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell hidradenoma", "clear cell hidradenoma (morphologic abnormality)"], "xref": ["DOID:5443", "MEDGEN:234584", "NCIT:C7567", "UMLS:C1370701"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.", "id": "MONDO:0003448", "name": "Benign spiradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spiradenoma"], "xref": ["DOID:5444", "GARD:0008649", "ICDO:8403/0", "MEDGEN:90768", "NCIT:C4170", "ONCOTREE:SPIR", "SCTID:403938001", "UMLS:C0334347"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.", "id": "MONDO:0003450", "name": "Eccrine papillary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5446", "ICDO:8408/0", "MEDGEN:137747", "NCIT:C4173", "SCTID:253021007", "UMLS:C0334350"]}
{"category": ["biolink:Disease"], "description": "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).", "id": "MONDO:0003452", "name": "Cochlear disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cochlea disease", "cochlea disease or disorder", "disease of cochlea", "disease or disorder of cochlea", "disorder of cochlea"], "xref": ["DOID:5463", "MEDGEN:1023", "MESH:D015834", "UMLS:C0009197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003453", "name": "Conjunctival intraepithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conjunctiva intraepithelial neoplasia", "conjunctival intraepithelial neoplasia", "intraepithelial neoplasia of conjunctiva", "intraepithelial neoplasia of the conjunctiva"], "xref": ["DOID:5465", "ICD9:239.89", "MEDGEN:234172", "NCIT:C6120", "SCTID:418134006", "UMLS:C1333148"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the conjunctiva.", "id": "MONDO:0003454", "name": "Conjunctival cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conjunctiva cancer", "malignant conjunctiva neoplasm", "malignant conjunctiva tumor", "malignant conjunctiva tumour", "malignant conjunctival neoplasm", "malignant conjunctival tumor", "malignant conjunctival tumour", "malignant neoplasm of conjunctiva", "malignant neoplasm of conjunctiva (primary)", "malignant neoplasm of the conjunctiva", "malignant tumor of conjunctiva", "malignant tumor of the conjunctiva", "malignant tumour of conjunctiva", "malignant tumour of the conjunctiva"], "xref": ["DOID:5467", "ICD10CM:C69.0", "ICD9:190.3", "MEDGEN:56316", "NCIT:C3564", "SCTID:363463000", "UMLS:C0153628", "icd11.foundation:2033444200"]}
{"category": ["biolink:Disease"], "description": "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.", "id": "MONDO:0003455", "name": "Bile duct papillary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IPN", "bile duct papillary epithelial neoplasm", "bile duct papillary neoplasm", "bile duct papillomatosis", "biliary papillomatosis", "intraductal papillary neoplasm"], "xref": ["DOID:5468", "ICDO:8503/0", "MEDGEN:360303", "NCIT:C6881", "UMLS:C1879344"]}
{"category": ["biolink:Disease"], "description": "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.", "id": "MONDO:0003458", "name": "Uterine corpus adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenofibroma of body of uterus", "adenofibroma of corpus uteri", "adenofibroma of the body of uterus", "adenofibroma of the corpus uteri", "adenofibroma of the uterine body", "adenofibroma of the uterine corpus", "adenofibroma of uterine body", "body of uterus adenofibroma", "corpus uteri adenofibroma", "uterine body adenofibroma"], "xref": ["DOID:5475", "MEDGEN:277849", "NCIT:C6337", "UMLS:C1336901"]}
{"category": ["biolink:Disease"], "description": "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.", "id": "MONDO:0003459", "name": "Cervical adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5476", "MEDGEN:308942", "NCIT:C40230", "UMLS:C1516402"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.", "id": "MONDO:0003460", "name": "Clear cell adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell adenofibroma", "clear cell adenofibroma (morphologic abnormality)"], "xref": ["DOID:5477", "ICDO:8313/0", "MEDGEN:90762", "NCIT:C8987", "UMLS:C0334317"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.", "id": "MONDO:0003461", "name": "Fallopian tube serous adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube adenofibroma", "fallopian tube serous adenofibroma", "serous adenofibroma of fallopian tube"], "xref": ["DOID:5478", "GARD:0023511", "MEDGEN:309125", "NCIT:C40113", "UMLS:C1517109"]}
{"category": ["biolink:Disease"], "description": "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.", "id": "MONDO:0003462", "name": "Papillary adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papillary adenofibroma"], "xref": ["DOID:5479", "MEDGEN:237177", "NCIT:C8986", "UMLS:C1377850"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.", "id": "MONDO:0003463", "name": "Ovarian endometrioid adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian endometrioid adenofibroma"], "xref": ["DOID:5480", "ICDO:8380/0", "ICDO:8381/0", "MEDGEN:389179", "NCIT:C27287", "UMLS:C2212024"]}
{"category": ["biolink:Disease"], "description": "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.", "id": "MONDO:0003464", "name": "Cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystadenofibroma"], "xref": ["DOID:5482", "MESH:D062625", "NCIT:C8985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003465", "name": "Fibrous synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fibrous sarcoma of the synovium"], "xref": ["DOID:5484", "GARD:0023512", "MEDGEN:234267", "NCIT:C6533", "UMLS:C1333616"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma characterized by the presence of a spindle cell component only.", "id": "MONDO:0003466", "name": "Spindle cell synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["synovial sarcoma with spindle cell components"], "xref": ["DOID:5487", "GARD:0023513", "ICDO:9041/3", "MEDGEN:90795", "NCIT:C4277", "UMLS:C0334505"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma arising from the mediastinum.", "id": "MONDO:0003467", "name": "Mediastinum synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal synovial sarcoma", "mediastinum synovial sarcoma (disease)", "synovial sarcoma of mediastinum", "synovial sarcoma of the mediastinum"], "xref": ["DOID:5488", "GARD:0023514", "MEDGEN:233174", "NCIT:C6618", "UMLS:C1334681"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.", "id": "MONDO:0003468", "name": "Biphasic synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["biphasic sarcoma of synovium", "biphasic sarcoma of the synovium", "synovial sarcoma, biphasic (morphologic abnormality)"], "xref": ["DOID:5492", "GARD:0023515", "ICDO:9043/3", "MEDGEN:137773", "NCIT:C4279", "UMLS:C0334507"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.", "id": "MONDO:0003469", "name": "Epithelioid cell synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelial sarcoma of synovium", "epithelial sarcoma of the synovium", "epithelial synovial sarcoma", "epithelioid cell sarcoma of synovium", "epithelioid cell sarcoma of the synovium", "epithelioid synovial sarcoma", "synovial sarcoma, epithelioid cell", "synovial sarcoma, epithelioid cell (morphologic abnormality)"], "xref": ["DOID:5494", "GARD:0023516", "ICDO:9042/3", "MEDGEN:90796", "NCIT:C4278", "UMLS:C0334506"]}
{"category": ["biolink:Disease"], "description": "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)", "id": "MONDO:0003470", "name": "Cellular ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5500", "GARD:0023517", "MEDGEN:235137", "NCIT:C4713", "UMLS:C1384403"]}
{"category": ["biolink:Disease"], "description": "A infectious disease involving Pediculus humanus capitis.", "id": "MONDO:0003471", "name": "Pediculus humanus capitis infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pediculus capitis [head louse]", "Pediculus humanus capitis infection"], "xref": ["DOID:5501", "ICD9:132.0", "MEDGEN:508022", "SCTID:81000006", "UMLS:C0030757"]}
{"category": ["biolink:Disease"], "description": "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.", "id": "MONDO:0003472", "name": "Lice infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pediculus humanus infection", "louse infestation (& [pediculosis and Phthirus] or [lice])", "mixed pediculosis infestation", "pediculosis", "pediculosis and Phthirus infestation", "pediculosis, unspecified"], "xref": ["DOID:5502", "ICD10CM:B85.2", "ICD9:132.9", "MEDGEN:18339", "MESH:D010373", "NCIT:C128401", "UMLS:C0030756"]}
{"category": ["biolink:Disease"], "description": "An ependymoma that arises from the spinal cord.", "id": "MONDO:0003473", "name": "Spinal cord ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ependymoma of spinal cord", "ependymoma of the spinal cord", "spinal cord ependymoma"], "xref": ["DOID:5503", "GARD:0023518", "MEDGEN:65968", "NCIT:C3875", "SCTID:254949006", "UMLS:C0238432"]}
{"category": ["biolink:Disease"], "description": "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)", "id": "MONDO:0003474", "name": "Tanycytic ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tanycytic ependymoma"], "xref": ["DOID:5504", "GARD:0023519", "MEDGEN:237159", "NCIT:C6903", "UMLS:C1370500"]}
{"category": ["biolink:Disease"], "description": "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)", "id": "MONDO:0003475", "name": "Papillary ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["papillary ependymoma"], "xref": ["DOID:5505", "GARD:0023520", "ICDO:9393/3", "MEDGEN:90810", "NCIT:C4319", "UMLS:C0334578"]}
{"category": ["biolink:Disease"], "description": "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.", "id": "MONDO:0003476", "name": "Clear cell ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["clear cell ependymoma"], "xref": ["DOID:5507", "GARD:0023521", "MEDGEN:1852795", "NCIT:C4714", "ONCOTREE:CCE", "UMLS:C5848299"]}
{"category": ["biolink:Disease"], "description": "An ependymoma that arises from the brain stem.", "id": "MONDO:0003477", "name": "Brain stem ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain stem ependymoma", "brainstem ependymoma", "ependymoma of brain stem", "ependymoma of brainstem", "ependymoma of the brain stem"], "xref": ["DOID:5508", "GARD:0023522", "MEDGEN:231459", "NCIT:C5098", "UMLS:C1332609"]}
{"category": ["biolink:Disease"], "description": "An ependymoma that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0003478", "name": "Childhood ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["childhood ependymoma", "ependymoma of childhood", "paediatric ependymoma", "pediatric ependymoma"], "xref": ["DOID:5509", "GARD:0023523", "MEDGEN:343609", "MESH:C531673", "NCIT:C8578", "UMLS:C1851584"]}
{"category": ["biolink:Disease"], "description": "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.", "id": "MONDO:0003479", "name": "Toxic pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute chemical fume pulmonary oedema", "acute chemical pulmonary oedema"], "xref": ["DOID:551", "ICD9:506.9", "MEDGEN:811389", "SCTID:233733000", "UMLS:C3714582"]}
{"category": ["biolink:Disease"], "description": "A dysgerminoma (disease) that involves the pineal body.", "id": "MONDO:0003480", "name": "Pineal region dysgerminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pineal body dysgerminoma (disease)", "pineal dysgerminoma", "pineal region dysgerminoma"], "xref": ["DOID:5510", "GARD:0023524", "MEDGEN:233328", "NCIT:C7169", "UMLS:C1335415"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.", "id": "MONDO:0003481", "name": "Dysgerminoma of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dysgerminoma of ovary", "dysgerminoma of the ovary", "germ cell dysgerminoma of ovary", "germ cell dysgerminoma of the ovary", "ovarian dysgerminoma", "ovarian germ cell dysgerminoma", "ovary dysgerminoma (disease)"], "xref": ["DOID:5511", "EFO:1000414", "GARD:0023525", "MEDGEN:83414", "NCIT:C8106", "ONCOTREE:ODYS", "SCTID:254874008", "UMLS:C0346185", "icd11.foundation:208782658"]}
{"category": ["biolink:Disease"], "description": "A infectious disease involving the Pediculus humanus corporis.", "id": "MONDO:0003482", "name": "Pediculus humanus corporis infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pediculus corporis [body louse]", "Pediculus humanus corporis infection"], "xref": ["DOID:5513", "ICD9:132.1", "MEDGEN:508023", "SCTID:25188002", "UMLS:C0030758"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.", "id": "MONDO:0003486", "name": "Basaloid squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basaloid squamous cell carcinoma", "basaloid squamous cell carcinoma (morphologic abnormality)"], "xref": ["DOID:5522", "EFO:1001940", "ICDO:8083/3", "MEDGEN:266085", "NCIT:C54244", "UMLS:C1266005", "icd11.foundation:1738201981"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma characterized by the formation of gland-like structures.", "id": "MONDO:0003487", "name": "Pseudoglandular squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoid squamous carcinoma", "adenoid squamous cell carcinoma", "adenoid squamous cell carcinoma (morphologic abnormality)", "pharyngeal tonsil squamous cell carcinoma", "pseudoglandular epidermoid carcinoma", "pseudoglandular epidermoid cell carcinoma", "pseudoglandular squamous carcinoma", "pseudoglandular squamous cell carcinoma"], "xref": ["DOID:5524", "ICDO:8075/3", "MEDGEN:1731648", "NCIT:C4106", "SCTID:403901001", "UMLS:C5400033"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.", "id": "MONDO:0003490", "name": "Ampulla of vater squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater squamous cell carcinoma", "hepatopancreatic ampulla squamous cell carcinoma"], "xref": ["DOID:5527", "GARD:0023526", "MEDGEN:272304", "NCIT:C27417", "UMLS:C1332251"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the lacrimal gland.", "id": "MONDO:0003492", "name": "Lacrimal gland squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epidermoid carcinoma of lacrimal gland", "lacrimal gland epidermoid carcinoma", "lacrimal gland squamous cell carcinoma", "squamous cell carcinoma of lacrimal gland", "squamous cell carcinoma of the lacrimal gland"], "xref": ["DOID:5529", "GARD:0023527", "MEDGEN:233607", "NCIT:C6092", "UMLS:C1334360"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.", "id": "MONDO:0003493", "name": "Thymus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus squamous cell carcinoma", "epidermoid thymic carcinoma", "squamous cell carcinoma of Thymus", "squamous cell carcinoma of the Thymus", "thymic squamous cell carcinoma", "thymus squamous cell carcinoma"], "xref": ["DOID:5530", "EFO:1000579", "GARD:0023528", "MEDGEN:234814", "NCIT:C6455", "UMLS:C1336082"]}
{"category": ["biolink:Disease"], "description": "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.", "id": "MONDO:0003494", "name": "Ovarian squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian squamous cell cancer", "ovarian squamous cell carcinoma", "ovary squamous cell carcinoma"], "xref": ["DOID:5531", "EFO:1000432", "GARD:0023529", "MEDGEN:384474", "NCIT:C40093", "UMLS:C2019443"]}
{"category": ["biolink:Disease"], "description": "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.", "id": "MONDO:0003495", "name": "Ovarian squamous cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian squamous cell neoplasm", "ovarian squamous cell tumor", "ovarian squamous cell tumour", "ovary squamous cell neoplasm"], "xref": ["DOID:5532", "NCIT:C40092"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the renal pelvis.", "id": "MONDO:0003497", "name": "Renal pelvis squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidermoid carcinoma of kidney pelvis", "epidermoid carcinoma of renal pelvis", "epidermoid carcinoma of the kidney pelvis", "epidermoid carcinoma of the renal pelvis", "kidney pelvis epidermoid carcinoma", "kidney pelvis squamous cell carcinoma", "kidney renal pelvis squamous cell cancer", "renal pelvis epidermoid carcinoma", "renal pelvis squamous cell cancer", "renal pelvis squamous cell carcinoma", "squamous cell carcinoma of kidney pelvis", "squamous cell carcinoma of renal pelvis", "squamous cell carcinoma of the kidney pelvis", "squamous cell carcinoma of the renal pelvis"], "xref": ["DOID:5534", "MEDGEN:66769", "NCIT:C7732", "UMLS:C0238409"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the skin with a prominent spindle cell component.", "id": "MONDO:0003499", "name": "Sarcomatoid squamous cell skin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spindle cell squamous carcinoma of skin", "spindle cell squamous carcinoma of the skin", "spindle cell squamous cell carcinoma"], "xref": ["DOID:5536", "MEDGEN:87611", "NCIT:C4666", "SCTID:254653005", "UMLS:C0349656"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the bile duct.", "id": "MONDO:0003500", "name": "Squamous cell bile duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct squamous cell carcinoma"], "xref": ["DOID:5537", "GARD:0023530", "MEDGEN:209017", "UMLS:C0861861"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the skin of the external ear.", "id": "MONDO:0003501", "name": "External ear squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epidermoid carcinoma of external Ear", "epidermoid carcinoma of the external Ear", "epidermoid carcinoma of the external ear", "external Ear epidermoid carcinoma", "external Ear squamous cell carcinoma", "external ear squamous cell carcinoma", "squamous cell carcinoma of external Ear", "squamous cell carcinoma of the external Ear"], "xref": ["DOID:5538", "GARD:0023531", "MEDGEN:232478", "NCIT:C6083", "UMLS:C1333494"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the ureter.", "id": "MONDO:0003502", "name": "Ureter squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidermoid carcinoma of the ureter", "epidermoid carcinoma of ureter", "squamous cell carcinoma of the ureter", "squamous cell carcinoma of ureter", "ureter epidermoid carcinoma", "ureter squamous cell carcinoma", "ureteral epidermoid carcinoma", "ureteral squamous cell carcinoma"], "xref": ["DOID:5539", "MEDGEN:237032", "NCIT:C6154", "UMLS:C1336879"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the fallopian tube.", "id": "MONDO:0003503", "name": "Fallopian tube squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube squamous cell cancer", "fallopian tube squamous cell carcinoma", "squamous cell carcinoma of fallopian tube", "squamous cell carcinoma of the fallopian tube"], "xref": ["DOID:5540", "GARD:0023532", "MEDGEN:234262", "NCIT:C6282", "UMLS:C1333596"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0003504", "name": "Anal canal neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal canal neuroendocrine neoplasm", "anal neuroendocrine neoplasm", "anus neuroendocrine neoplasm", "neuroendocrine neoplasm of anal canal", "neuroendocrine neoplasm of anus", "neuroendocrine neoplasm of the anus"], "xref": ["DOID:5545", "GARD:0023533", "MEDGEN:231063", "NCIT:C5603", "SCTID:717917007", "UMLS:C1332273"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a femur.", "id": "MONDO:0003505", "name": "Femoral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cancer of femur", "femur cancer", "malignant femur neoplasm", "malignant neoplasm of femur"], "xref": ["DOID:5546", "GARD:0023534", "MEDGEN:1843484", "MESH:D005266", "UMLS:C2362822"]}
{"category": ["biolink:Disease"], "description": "A rare choriocarcinoma that arises from a pulmonary artery.", "id": "MONDO:0003506", "name": "Pulmonary artery choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["choriocarcinoma of pulmonary artery", "choriocarcinoma of the pulmonary artery", "chorioepithelioma of pulmonary artery", "chorioepithelioma of the pulmonary artery", "pulmonary artery choriocarcinoma", "pulmonary artery choriocarcinoma (disease)", "pulmonary artery chorioepithelioma", "pulmonary artery syncytioma", "syncytioma of pulmonary artery", "syncytioma of the pulmonary artery"], "xref": ["DOID:5547", "GARD:0023535", "MEDGEN:233371", "NCIT:C5381", "UMLS:C1335571"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.", "id": "MONDO:0003507", "name": "Choriocarcinoma of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["choriocarcinoma of ovary", "choriocarcinoma of the ovary", "germ cell choriocarcinoma of ovary", "germ cell choriocarcinoma of the ovary", "ovarian choriocarcinoma", "ovarian germ cell choriocarcinoma", "ovary choriocarcinoma (disease)"], "xref": ["DOID:5550", "EFO:1000413", "GARD:0023536", "MEDGEN:91089", "NCIT:C4515", "SCTID:254870004", "UMLS:C0346181"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.", "id": "MONDO:0003508", "name": "Choriocarcinoma of testis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["choriocarcinoma of testis", "choriocarcinoma of the testis", "testicular choriocarcinoma", "testis choriocarcinoma (disease)"], "xref": ["DOID:5551", "EFO:1000564", "GARD:0023537", "MEDGEN:65969", "NCIT:C7733", "ONCOTREE:TCCA", "UMLS:C0238449", "icd11.foundation:1972827817"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma (disease) that involves the pineal body.", "id": "MONDO:0003509", "name": "Pineal region choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choriocarcinoma of pineal area", "choriocarcinoma of pineal region", "choriocarcinoma of the pineal area", "choriocarcinoma of the pineal region", "pineal area choriocarcinoma", "pineal choriocarcinoma"], "xref": ["DOID:5553", "GARD:0023538", "MEDGEN:233327", "NCIT:C6759", "UMLS:C1335414"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.", "id": "MONDO:0003510", "name": "Malignant testicular germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant germ cell neoplasm of testis", "malignant germ cell neoplasm of the testis", "malignant germ cell tumor of testis", "malignant germ cell tumor of the testis", "malignant germ cell tumour of testis", "malignant germ cell tumour of the testis", "malignant testicular germ cell neoplasm", "malignant testicular germ cell tumor", "testicular ca. (no germ/tropho.)", "testicular cancer (excluding germ cell or trophoblastic cancer)", "testicular germ cell cancer"], "xref": ["DOID:5556", "GARD:0023539", "ICD9:186.9", "MEDGEN:163616", "NCIT:C9063", "SCTID:713646001", "UMLS:C0855197"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.", "id": "MONDO:0003512", "name": "Mediastinal mesenchymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mediastinal soft tissue neoplasm", "mediastinal soft tissue tumor", "mediastinal soft tissue tumour", "soft tissue neoplasm of mediastinum", "soft tissue neoplasm of the mediastinum", "soft tissue tumor of mediastinum", "soft tissue tumor of the mediastinum", "soft tissue tumour of the mediastinum"], "xref": ["DOID:5560", "MEDGEN:233171", "NCIT:C6637", "UMLS:C1334669"]}
{"category": ["biolink:Disease"], "description": "A mature or immature teratoma that arises from the stomach.", "id": "MONDO:0003513", "name": "Gastric teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric teratoma", "stomach teratoma", "teratoma of stomach", "teratoma of the stomach"], "xref": ["DOID:5561", "GARD:0023540", "MEDGEN:272665", "NCIT:C5259", "UMLS:C1333790"]}
{"category": ["biolink:Disease"], "description": "A malignant form of teratoma.", "id": "MONDO:0003514", "name": "Malignant teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["teratoma, malignant"], "xref": ["DOID:5563", "GARD:0023541", "MEDGEN:1652407", "NCIT:C4287", "UMLS:C4722083"]}
{"category": ["biolink:Disease"], "description": "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.", "id": "MONDO:0003515", "name": "Fallopian tube teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube teratoma"], "xref": ["DOID:5564", "GARD:0023542", "MEDGEN:309129", "NCIT:C40131", "UMLS:C1517127"]}
{"category": ["biolink:Disease"], "description": "A teratoma that occurs in an adult.", "id": "MONDO:0003516", "name": "Adult teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult teratoma", "teratoma of adults"], "xref": ["DOID:5565", "GARD:0023543", "MEDGEN:277966", "NCIT:C9013", "UMLS:C1368898"]}
{"category": ["biolink:Disease"], "description": "A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.", "id": "MONDO:0003517", "name": "Mature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mature teratoma"], "xref": ["DOID:5566", "GARD:0023544", "ICDO:9080/0", "MEDGEN:277967", "NANDO:2200105", "NCIT:C9015", "ONCOTREE:VMT", "SCTID:254875009", "UMLS:C1368910"]}
{"category": ["biolink:Disease"], "description": "A teratoma that involves the mediastinum.", "id": "MONDO:0003518", "name": "Mediastinum teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinum teratoma", "teratoma of mediastinum"], "xref": ["DOID:5568", "GARD:0023545", "MEDGEN:233175", "NCIT:C6438", "UMLS:C1334682"]}
{"category": ["biolink:Disease"], "description": "A malignant form of syringoma.", "id": "MONDO:0003519", "name": "Malignant syringoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["microcystic adnexal carcinoma", "syringoma, malignant", "syringomatous carcinoma"], "xref": ["DOID:5569", "GARD:0010438", "MEDGEN:83399", "NCIT:C7581", "ONCOTREE:MAC", "SCTID:254712007", "UMLS:C0346027"]}
{"category": ["biolink:Disease"], "description": "Persistent delay or absence in orgasm not accounted for by a medical reason.", "id": "MONDO:0003522", "name": "Male orgasm disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["male orgasmic disorder"], "xref": ["DOID:5576", "ICD10CM:F52.32", "MEDGEN:19560", "NCIT:C34959", "SCTID:81903006", "UMLS:C0033949"]}
{"category": ["biolink:Disease"], "description": "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.", "id": "MONDO:0003523", "name": "Gastrin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["G cell tumor", "G cell tumour", "G-cell gastrin producing tumor", "G-cell gastrin producing tumour", "G-cell tumor", "G-cell tumour", "gastrin cell tumor", "gastrin secreting tumor", "gastrin secreting tumour", "gastrin-producing NET", "gastrin-producing neuroendocrine tumor", "gastrinoma"], "xref": ["DOID:5577", "GARD:0023546", "ICDO:8153/1", "MEDGEN:6551", "NANDO:2200395", "NCIT:C3050", "UMLS:C0017150", "icd11.foundation:1333125891"]}
{"category": ["biolink:Disease"], "description": "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.", "id": "MONDO:0003524", "name": "Gastric gastrin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric G-cell gastrin producing tumour", "gastric gastrin producing tumor", "gastric gastrin producing tumour", "gastric gastrin-producing NET", "gastric gastrin-producing neuroendocrine tumor", "gastrin producing neuroendocrine tumor of the stomach", "gastrin producing neuroendocrine tumour of the stomach", "gastrin producing tumor of the stomach", "gastrin producing tumour of the stomach", "gastrin-producing neuroendocrine tumor of stomach", "gastrin-producing neuroendocrine tumor of the stomach", "gastrin-producing neuroendocrine tumour of stomach", "gastrin-producing neuroendocrine tumour of the stomach", "stomach gastrin-producing neuroendocrine tumor", "stomach gastrin-producing neuroendocrine tumour"], "xref": ["DOID:5579", "GARD:0023547", "MEDGEN:232230", "NCIT:C27444", "UMLS:C1333767"]}
{"category": ["biolink:Disease"], "description": "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.", "id": "MONDO:0003525", "name": "Pancreatic gastrin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastrin-producing neuroendocrine tumor of pancreas", "gastrin-producing neuroendocrine tumour of pancreas", "pancreas gastrin-producing neuroendocrine tumor", "pancreas gastrin-producing neuroendocrine tumour", "pancreatic G-cell tumour", "pancreatic gastrin producing NET", "pancreatic gastrin producing tumor", "pancreatic gastrin producing tumour", "pancreatic gastrin-producing neuroendocrine tumor"], "xref": ["DOID:5580", "GARD:0023548", "MEDGEN:235080", "MESH:D015408", "NCIT:C9069", "UMLS:C1368066"]}
{"category": ["biolink:Disease"], "description": "An ischemic contracture of the forearm that most often occurs secondary to trauma.", "id": "MONDO:0003528", "name": "Volkmann contracture", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Volkmann's ischaemic contracture", "Volkmann's ischemic contracture"], "xref": ["DOID:5587", "GARD:0023549", "ICD9:958.6", "MEDGEN:22684", "MESH:D054061", "NCIT:C35130", "SCTID:111247001", "UMLS:C0042951", "icd11.foundation:366740140"]}
{"category": ["biolink:Disease"], "description": "Sudden onset pyelonephritis.", "id": "MONDO:0003529", "name": "Acute pyelonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pyelonephritis, acute"], "xref": ["DOID:559", "ICD10CM:N10", "ICD9:590.1", "MEDGEN:636072", "NCIT:C123215", "SCTID:36689008", "UMLS:C0520575", "icd11.foundation:441183088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003531", "name": "Papillary eccrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary apocrine fibroadenoma", "papillary eccrine adenoma", "papillary eccrine carcinoma", "tubular apocrine adenoma"], "xref": ["DOID:5591", "NCIT:C27254", "SCTID:254709009"]}
{"category": ["biolink:Disease"], "description": "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.", "id": "MONDO:0003532", "name": "Breast papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Papillary breast cancer", "breast papillary carcinoma", "papillary breast carcinoma", "papillary carcinoma of breast", "papillary carcinoma of the breast"], "xref": ["DOID:5592", "MEDGEN:818226", "NCIT:C9134", "UMLS:C3812899"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.", "id": "MONDO:0003534", "name": "Papillary thymic adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymus papillary carcinoma", "papillary carcinoma of Thymus", "papillary carcinoma of the Thymus", "thymic papillary adenocarcinoma", "thymic papillary carcinoma", "thymus papillary adenocarcinoma"], "xref": ["DOID:5595", "GARD:0023550", "MEDGEN:233836", "NCIT:C27937", "UMLS:C1335327"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.", "id": "MONDO:0003535", "name": "Fallopian tube papillary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fallopian tube papillary adenocarcinoma", "papillary adenocarcinoma of fallopian tube"], "xref": ["DOID:5597", "GARD:0023551", "MEDGEN:234261", "NCIT:C6267", "UMLS:C1333595"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)", "id": "MONDO:0003537", "name": "T-lymphoblastic lymphoma/leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["precursor T lymphoblastic leukemia/lymphoma", "precursor T lymphoblastic lymphoma/leukemia", "precursor T-lymphoblastic lymphoma/leukemia"], "xref": ["DOID:5599", "GARD:0023552", "ICDO:9837/3", "MEDGEN:224897", "NCIT:C8694", "UMLS:C1301359"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003", "id": "MONDO:0003538", "name": "Precursor lymphoblastic lymphoma/leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["precursor lymphoblastic leukemia/lymphoma", "precursor lymphoblastic lymphoma/leukemia", "precursor lymphoid neoplasm"], "xref": ["DOID:5600", "GARD:0023553", "MEDGEN:235492", "NCIT:C7055", "UMLS:C1335469"]}
{"category": ["biolink:Disease"], "description": "An acute T-lymphoblastic leukemia occurring in adults.", "id": "MONDO:0003539", "name": "T-cell adult acute lymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["T cell adult ALL", "T cell adult acute lymphoblastic leukaemia", "T cell adult acute lymphoblastic leukemia", "T cell adult acute lymphocytic leukaemia", "T cell adult acute lymphocytic leukemia", "T-cell adult ALL", "adult T acute lymphoblastic leukaemia", "adult T acute lymphoblastic leukemia", "adult T-cell acute lymphoblastic leukaemia", "adult T-cell acute lymphoblastic leukemia", "adult acute lymphoblastic leukaemia of T cell", "adult acute lymphoblastic leukemia of T cell", "adult precursor T lymphoblastic leukaemia", "adult precursor T-lymphoblastic leukaemia", "adult precursor T-lymphoblastic leukemia"], "xref": ["DOID:5602", "EFO:1001936", "GARD:0023554", "MEDGEN:79009", "NCIT:C9142", "UMLS:C0279592"]}
{"category": ["biolink:Disease"], "description": "An acute lymphoblastic leukemia occurring during adulthood.", "id": "MONDO:0003541", "name": "Adult acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adult ALL", "adult acute lymphoblastic leukemia", "adult acute lymphocytic leukaemia", "adult acute lymphocytic leukemia", "adult acute lymphogenous leukaemia", "adult acute lymphogenous leukemia", "adult acute lymphoid leukaemia", "adult acute lymphoid leukemia", "adult precursor lymphoblastic leukaemia", "adult precursor lymphoblastic leukemia"], "xref": ["DOID:5604", "GARD:0023555", "MEDGEN:199693", "NCIT:C4967", "UMLS:C0751606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003542", "name": "Dental pulp calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulp calcification"], "xref": ["DOID:5608", "MEDGEN:41471", "MESH:D003784", "SCTID:57602001", "UMLS:C0011401", "icd11.foundation:1672640309"]}
{"category": ["biolink:Disease"], "description": "A disease involving the trigeminal nerve.", "id": "MONDO:0003543", "name": "Trigeminal nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of trigeminal nerve", "disease or disorder of trigeminal nerve", "disorder of trigeminal nerve", "trigeminal nerve disease", "trigeminal nerve disease or disorder", "trigeminal nerve disorder"], "xref": ["DOID:561", "EFO:0009569", "ICD9:350.8", "MEDGEN:101823", "MESH:D020433", "NCIT:C26952", "SCTID:64309007", "UMLS:C0152177"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.", "id": "MONDO:0003544", "name": "Spinal cord cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of spinal cord", "malignant neoplasm of spinal cord", "malignant neoplasm of the spinal cord", "malignant spinal cord neoplasm", "malignant spinal cord tumor", "malignant spinal cord tumour", "malignant tumor of spinal cord", "malignant tumor of the spinal cord", "malignant tumour of spinal cord", "malignant tumour of the spinal cord", "spinal cord cancer", "spine cancer"], "xref": ["DOID:5612", "GARD:0027641", "ICD10CM:C72.0", "ICD9:192.2", "MEDGEN:56317", "NCIT:C3572", "SCTID:363475005", "UMLS:C0153646", "icd11.foundation:492029077"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.", "id": "MONDO:0003545", "name": "Intradural extramedullary spinal canal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intradural extramedullary neoplasm of spinal canal", "intradural extramedullary neoplasm of the spinal canal", "intradural extramedullary spinal canal neoplasm", "intradural extramedullary spinal canal tumor", "intradural extramedullary spinal canal tumors", "intradural extramedullary spinal canal tumour", "intradural extramedullary spinal canal tumours", "intradural extramedullary spinal neoplasms", "intradural extramedullary spinal tumours", "intradural extramedullary tumor of spinal canal", "intradural extramedullary tumor of the spinal canal", "intradural extramedullary tumour of spinal canal", "intradural extramedullary tumour of the spinal canal"], "xref": ["DOID:5615", "MEDGEN:272771", "NCIT:C5135", "UMLS:C1334255"]}
{"category": ["biolink:Disease"], "description": "A disease involving the oculomotor nerve.", "id": "MONDO:0003546", "name": "Third cranial nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of oculomotor nerve", "disease or disorder of oculomotor nerve", "disorder of oculomotor nerve", "oculomotor nerve disease", "oculomotor nerve disease or disorder", "oculomotor nerve disorder"], "xref": ["DOID:562", "MEDGEN:78766", "MESH:D015840", "NCIT:C27598", "SCTID:60750009", "UMLS:C0271353"]}
{"category": ["biolink:Disease"], "description": "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.", "id": "MONDO:0003548", "name": "Adenosquamous breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosquamous breast carcinoma", "breast adenosquamous carcinoma"], "xref": ["DOID:5623", "GARD:0023556", "MEDGEN:267645", "NCIT:C40361", "ONCOTREE:MASC", "UMLS:C1510796"]}
{"category": ["biolink:Disease"], "description": "An adenosquamous carcinoma that arises from the bile ducts.", "id": "MONDO:0003549", "name": "Adenosquamous bile duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosquamous carcinoma of bile duct", "adenosquamous carcinoma of the bile duct", "bile duct adenosquamous carcinoma"], "xref": ["DOID:5624", "GARD:0023557", "MEDGEN:163666", "UMLS:C0861854"]}
{"category": ["biolink:Disease"], "description": "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.", "id": "MONDO:0003550", "name": "Esophageal adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal adenosquamous cancer", "esophageal adenosquamous carcinoma", "esophagus adenosquamous carcinoma", "oesophagus adenosquamous carcinoma"], "xref": ["DOID:5625", "GARD:0023558", "MEDGEN:389165", "NCIT:C27421", "UMLS:C2063886"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.", "id": "MONDO:0003551", "name": "Thymic adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymus adenosquamous carcinoma", "adenosquamous carcinoma of Thymus", "adenosquamous carcinoma of the Thymus", "thymic adenosquamous carcinoma", "thymus adenosquamous carcinoma"], "xref": ["DOID:5626", "GARD:0023559", "MEDGEN:272286", "NCIT:C6458", "UMLS:C1332171"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.", "id": "MONDO:0003553", "name": "Ampulla of vater adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater adenosquamous carcinoma", "hepatopancreatic ampulla adenosquamous carcinoma"], "xref": ["DOID:5628", "GARD:0023560", "MEDGEN:231056", "NCIT:C27418", "UMLS:C1332245"]}
{"category": ["biolink:Disease"], "description": "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.", "id": "MONDO:0003554", "name": "Adenosquamous colon carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosquamous carcinoma of colon", "adenosquamous carcinoma of the colon", "adenosquamous colon carcinoma", "colon adenosquamous cancer", "colon adenosquamous carcinoma", "colonic adenosquamous carcinoma"], "xref": ["DOID:5629", "GARD:0023561", "MEDGEN:232083", "NCIT:C5491", "UMLS:C1333082"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.", "id": "MONDO:0003555", "name": "Bartholin gland adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin gland adenosquamous carcinoma", "Bartholin's gland adenosquamous carcinoma", "major vestibular gland adenosquamous carcinoma"], "xref": ["DOID:5630", "GARD:0023562", "MEDGEN:267339", "NCIT:C40296", "UMLS:C1511050"]}
{"category": ["biolink:Disease"], "description": "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.", "id": "MONDO:0003556", "name": "Endometrial adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial adenosquamous carcinoma", "endometrium adenosquamous carcinoma"], "xref": ["DOID:5631", "EFO:1001952", "MEDGEN:856563", "NCIT:C114656", "UMLS:C3896969"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the sheath of the optic nerve.", "id": "MONDO:0003557", "name": "Optic nerve sheath meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["meningioma of optic nerve sheath", "meningioma of the optic nerve sheath", "optic nerve sheath meningioma"], "xref": ["DOID:5632", "GARD:0023563", "ICD9:237.9", "MEDGEN:138057", "NCIT:C4538", "SCTID:254978007", "UMLS:C0346328"]}
{"category": ["biolink:Disease"], "description": "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.", "id": "MONDO:0003558", "name": "Adenosquamous prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenosquamous carcinoma of prostate", "adenosquamous carcinoma of the prostate", "prostate adenosquamous carcinoma", "prostate gland adenosquamous carcinoma"], "xref": ["DOID:5634", "MEDGEN:233353", "NCIT:C5538", "UMLS:C1335503"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.", "id": "MONDO:0003561", "name": "Malignant giant cell tumor of soft parts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["giant cell fibrous histiocytoma", "giant cell malignant fibrous histiocytoma", "malignant Osteoclastoma", "malignant giant cell neoplasm of soft parts", "malignant giant cell tumor of soft parts", "malignant giant cell tumor of soft parts (morphologic abnormality)", "malignant giant cell tumour of soft parts (morphologic abnormality)", "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells"], "xref": ["DOID:5638", "GARD:0023564", "ICDO:9251/3", "MEDGEN:90807", "NCIT:C8380", "UMLS:C0334554"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.", "id": "MONDO:0003562", "name": "Rete testis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of rete testis", "rete testis neoplasm", "rete testis neoplasm (disease)", "rete testis tumor", "rete testis tumour", "tumor of rete testis", "tumour of rete testis"], "xref": ["DOID:5639", "MEDGEN:308162", "NCIT:C39955", "UMLS:C1514912"]}
{"category": ["biolink:Disease"], "description": "Diffuse replacement of the lung tissue by connective tissue.", "id": "MONDO:0003563", "name": "Diffuse pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5641", "GARD:0023565", "MEDGEN:167847", "NCIT:C27216", "UMLS:C0865849"]}
{"category": ["biolink:Disease"], "description": "Replacement of the lung tissue by connective tissue in a specific area of the lung.", "id": "MONDO:0003564", "name": "Localized pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5642", "GARD:0023566", "MEDGEN:137936", "NCIT:C27103", "SCTID:233726000", "UMLS:C0340127"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.", "id": "MONDO:0003565", "name": "Urethral villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethra villous adenoma", "urethral villous adenoma"], "xref": ["DOID:5643", "MEDGEN:274360", "NCIT:C39872", "UMLS:C1519828"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003567", "name": "Bilateral hypoactive labyrinth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypoactive labyrinth, bilateral"], "xref": ["DOID:565", "ICD9:386.54", "MEDGEN:510004", "SCTID:194375009", "UMLS:C0155518"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the optic chiasma.", "id": "MONDO:0003568", "name": "Disorder of optic chiasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chiasma syndrome", "chiasmal syndrome", "disease of optic chiasma", "disease or disorder of optic chiasma", "disorder of optic chiasm", "disorder of optic chiasma", "optic chiasma disease", "optic chiasma disease or disorder"], "xref": ["DOID:5655", "ICD10CM:H47.4", "ICD9:377.5", "ICD9:377.63", "MEDGEN:509905", "SCTID:70476006", "UMLS:C0155307", "icd11.foundation:927459952"]}
{"category": ["biolink:Disease"], "description": "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.", "id": "MONDO:0003569", "name": "Cranial nerve neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cranial nerve disease", "cranial nerve disorder", "cranial neuron projection bundle disease", "cranial neuron projection bundle disease or disorder", "cranial neuropathy", "disease of cranial neuron projection bundle", "disease or disorder of cranial neuron projection bundle", "disorder of cranial nerve", "disorder of cranial neuron projection bundle"], "xref": ["DOID:5656", "ICD9:352.9", "MEDGEN:1160", "MESH:D003389", "NCIT:C26733", "SCTID:73013002", "UMLS:C0010266"]}
{"category": ["biolink:Disease"], "description": "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.", "id": "MONDO:0003570", "name": "Lipid-rich carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipid-rich carcinoma", "lipid-rich carcinoma (morphologic abnormality)"], "xref": ["DOID:5658", "ICDO:8314/3", "MEDGEN:137742", "NCIT:C4152", "UMLS:C0334318"]}
{"category": ["biolink:Disease"], "description": "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.", "id": "MONDO:0003572", "name": "Nasopharyngeal type undifferentiated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Schmincke tumor", "Schmincke tumour", "Schminke tumor", "Schminke tumour", "lymphoepithelial carcinoma", "lymphoepithelioma", "lymphoepithelioma-like carcinoma", "nasopharyngeal type undifferentiated carcinoma"], "xref": ["DOID:5660", "ICDO:8082/3", "MEDGEN:87199", "NCIT:C4107", "UMLS:C0334254"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.", "id": "MONDO:0003573", "name": "Pleomorphic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pleomorphic carcinoma", "pleomorphic carcinoma (morphologic abnormality)"], "xref": ["DOID:5662", "ICDO:8022/3", "MEDGEN:87198", "NCIT:C4094", "UMLS:C0334233", "icd11.foundation:1381572140"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the external ear.", "id": "MONDO:0003574", "name": "External ear cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of external ear", "external ear cancer", "malignant external Ear neoplasm", "malignant external Ear tumor", "malignant external Ear tumour", "malignant external ear neoplasm", "malignant neoplasm of external Ear", "malignant neoplasm of external ear", "malignant neoplasm of the external Ear", "malignant neoplasm of the external ear", "malignant tumor of external Ear", "malignant tumor of the external Ear", "malignant tumour of external Ear", "malignant tumour of the external Ear"], "xref": ["DOID:5665", "MEDGEN:91157", "NCIT:C4653", "SCTID:277156006", "UMLS:C0349576"]}
{"category": ["biolink:Disease"], "description": "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.", "id": "MONDO:0003575", "name": "Comedocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Comedocarcinoma"], "xref": ["DOID:5670", "ICDO:8501/3", "MEDGEN:90773", "NCIT:C4188", "UMLS:C0334370"]}
{"category": ["biolink:Disease"], "description": "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.", "id": "MONDO:0003578", "name": "Extragonadal nonseminomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of extragonadal non-seminomatous germ cell", "cancer of the extragonadal non-seminomatous germ cell", "extragonadal non-seminomatous germ cell cancer", "extragonadal primary Nonseminoma", "malignant extragonadal Nonseminoma", "malignant extragonadal non-seminomatous germ cell neoplasm", "malignant extragonadal non-seminomatous germ cell tumor", "malignant extragonadal non-seminomatous germ cell tumour", "malignant neoplasm of extragonadal non-seminomatous germ cell", "malignant neoplasm of the extragonadal non-seminomatous germ cell", "malignant tumor of extragonadal non-seminomatous germ cell", "malignant tumor of the extragonadal non-seminomatous germ cell", "malignant tumour of extragonadal non-seminomatous germ cell", "malignant tumour of the extragonadal non-seminomatous germ cell", "primary malignant extragonadal Nonseminoma"], "xref": ["DOID:5677", "GARD:0023567", "MEDGEN:233662", "NCIT:C8885", "UMLS:C1334582"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the nerve fiber layer of retina.", "id": "MONDO:0003579", "name": "Retinal nerve fiber layer disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of nerve fiber layer of retina", "disease of nerve fibre layer of retina", "disease or disorder of nerve fiber layer of retina", "disease or disorder of nerve fibre layer of retina", "disorder of nerve fiber layer of retina", "disorder of nerve fibre layer of retina", "nerve fiber layer of retina disease", "nerve fiber layer of retina disease or disorder", "nerve fibre layer of retina disease", "nerve fibre layer of retina disease or disorder", "retinal nerve fiber bundle defects", "retinal nerve fibre bundle defects", "retinal nerve fibre bundle deficiency"], "xref": ["DOID:5678", "ICD9:362.85", "MEDGEN:784046", "SCTID:193428001", "UMLS:C3665426"]}
{"category": ["biolink:Disease"], "description": "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.", "id": "MONDO:0003581", "name": "Ovarian embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["embryonal carcinoma of ovary", "embryonal carcinoma of the ovary", "ovarian embryonal carcinoma", "ovary embryonal carcinoma"], "xref": ["DOID:5681", "EFO:1000415", "GARD:0023568", "MEDGEN:91090", "NCIT:C8108", "ONCOTREE:OEC", "SCTID:254872007", "UMLS:C0346183"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.", "id": "MONDO:0003582", "name": "Hereditary breast ovarian cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)", "Hereditary Breast and Ovarian Cancer Syndrome", "familial breast and ovarian cancer syndrome", "familial breast/ovarian cancer (BRCA1, BRCA2)", "hereditary breast and ovarian cancer", "hereditary breast and ovarian cancer syndrome", "hereditary breast ovarian cancer syndrome", "hereditary breast/ovarian cancer (BRCA1, BRCA2)"], "xref": ["DOID:5683", "GARD:0015010", "MEDGEN:151793", "MESH:D061325", "NCIT:C8493", "NORD:1936", "Orphanet:145", "SCTID:718220008", "UMLS:C0677776", "icd11.foundation:1258896144"]}
{"category": ["biolink:Disease"], "description": "A disease involving the visual cortex.", "id": "MONDO:0003584", "name": "Visual cortex disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["disease of visual cortex", "disease or disorder of visual cortex", "disorder of visual cortex", "visual cortex disease", "visual cortex disease or disorder", "visual cortex disorder"], "xref": ["DOID:5691", "GARD:0027642", "ICD10CM:H47.6", "ICD9:377.7", "MEDGEN:66699", "NCIT:C35275", "Orphanet:447788", "SCTID:128329001", "UMLS:C0234398"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.", "id": "MONDO:0003585", "name": "Adult liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult liposarcoma", "liposarcoma of adults"], "xref": ["DOID:5693", "GARD:0023569", "MEDGEN:75842", "NANDO:2200065", "NCIT:C7811", "UMLS:C0278608"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.", "id": "MONDO:0003586", "name": "Esophagus liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal liposarcoma", "esophagus liposarcoma", "liposarcoma of esophagus", "liposarcoma of the esophagus", "liposarcoma of the oesophagus"], "xref": ["DOID:5694", "GARD:0023570", "MEDGEN:232163", "NCIT:C5705", "UMLS:C1333456"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.", "id": "MONDO:0003587", "name": "Pediatric liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood liposarcoma", "pediatric liposarcoma"], "xref": ["DOID:5695", "GARD:0023571", "MEDGEN:83580", "NANDO:2200065", "NCIT:C8091", "UMLS:C0279984"]}
{"category": ["biolink:Disease"], "description": "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.", "id": "MONDO:0003588", "name": "Larynx liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal liposarcoma", "larynx liposarcoma", "lip larynx sarcoma", "liposarcoma of larynx", "liposarcoma of the larynx"], "xref": ["DOID:5696", "GARD:0023572", "MEDGEN:235252", "NCIT:C6021", "UMLS:C1334372"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the ovary.", "id": "MONDO:0003589", "name": "Liposarcoma of the ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["liposarcoma of ovary", "ovarian liposarcoma", "ovary liposarcoma"], "xref": ["DOID:5697", "GARD:0023573", "MEDGEN:233808", "NCIT:C6419", "UMLS:C1335165"]}
{"category": ["biolink:Disease"], "description": "A liposarcoma characterized by the presence of a fibroblastic component.", "id": "MONDO:0003590", "name": "Fibroblastic liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fibroblastic liposarcoma", "fibroblastic liposarcoma (morphologic abnormality)"], "xref": ["DOID:5698", "GARD:0023574", "ICDO:8857/3", "MEDGEN:266103", "NCIT:C6509", "UMLS:C1266130"]}
{"category": ["biolink:Disease"], "description": "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.", "id": "MONDO:0003591", "name": "Kidney liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["kidney liposarcoma", "liposarcoma of kidney", "liposarcoma of the kidney", "renal liposarcoma"], "xref": ["DOID:5699", "GARD:0023575", "MEDGEN:235546", "NCIT:C6185", "UMLS:C1335745"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the stomach.", "id": "MONDO:0003592", "name": "Gastric liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric liposarcoma", "liposarcoma of stomach", "liposarcoma of the stomach", "stomach liposarcoma"], "xref": ["DOID:5700", "GARD:0023576", "MEDGEN:272663", "NCIT:C5488", "UMLS:C1333778"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the breast.", "id": "MONDO:0003593", "name": "Breast liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast liposarcoma", "liposarcoma of breast", "liposarcoma of the breast"], "xref": ["DOID:5701", "GARD:0023577", "MEDGEN:231968", "NCIT:C5187", "UMLS:C1332632"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.", "id": "MONDO:0003594", "name": "Mixed liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["mixed liposarcoma", "mixed liposarcoma (morphologic abnormality)"], "xref": ["DOID:5703", "GARD:0023578", "ICDO:8855/3", "MEDGEN:87249", "NCIT:C4253", "UMLS:C0334472"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.", "id": "MONDO:0003595", "name": "Sclerosing liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5704", "GARD:0023579", "ICD9:171.9", "MEDGEN:137767", "NCIT:C6507", "SCTID:404068003", "UMLS:C0334469"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.", "id": "MONDO:0003596", "name": "Spindle cell liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spindle cell liposarcoma"], "xref": ["DOID:5705", "GARD:0023580", "ICD9:171.9", "MEDGEN:266156", "NCIT:C27489", "SCTID:404073009", "UMLS:C1275275"]}
{"category": ["biolink:Disease"], "description": "Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).", "id": "MONDO:0003598", "name": "Median nerve neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["median nerve peripheral neuropathy", "peripheral neuropathy of median nerve"], "xref": ["DOID:571", "GARD:0023581", "ICD9:354.1", "MEDGEN:199766", "MESH:D020423", "SCTID:397828008", "UMLS:C0751922"]}
{"category": ["biolink:Disease"], "description": "A rare malignant adipose tissue neoplasm of the vulva.", "id": "MONDO:0003599", "name": "Vulvar liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["liposarcoma of mammalian vulva", "mammalian vulva liposarcoma", "vulvar liposarcoma"], "xref": ["DOID:5711", "GARD:0023582", "MEDGEN:412161", "NCIT:C40321", "UMLS:C2184082"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the skin.", "id": "MONDO:0003600", "name": "Cutaneous liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous liposarcoma", "liposarcoma of skin", "liposarcoma of the skin", "liposarcoma of zone of skin", "skin liposarcoma", "zone of skin liposarcoma"], "xref": ["DOID:5712", "GARD:0023583", "MEDGEN:232398", "NCIT:C5615", "UMLS:C1333175"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.", "id": "MONDO:0003601", "name": "Mediastinum liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lip mediastinum sarcoma", "liposarcoma of mediastinum", "liposarcoma of the mediastinum", "mediastinal liposarcoma", "mediastinum liposarcoma"], "xref": ["DOID:5713", "GARD:0023584", "MEDGEN:233683", "NCIT:C6614", "UMLS:C1334663"]}
{"category": ["biolink:Disease"], "description": "A malignant adipose tissue neoplasm of the intracranial region.", "id": "MONDO:0003602", "name": "Intracranial liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5714", "GARD:0023585", "MEDGEN:232663", "NCIT:C6973", "UMLS:C1334242"]}
{"category": ["biolink:Disease"], "description": "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.", "id": "MONDO:0003603", "name": "Non-functioning pituitary gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Nonfunctioning pituitary tumor", "Nonfunctioning pituitary tumour", "non-functioning endocrine neoplasm of pituitary gland", "non-functioning neoplasm of pituitary", "non-functioning neoplasm of pituitary gland", "non-functioning neoplasm of the pituitary", "non-functioning neoplasm of the pituitary gland", "non-functioning pituitary gland neoplasm", "non-functioning pituitary gland tumor", "non-functioning pituitary gland tumour", "non-functioning pituitary neoplasm", "non-functioning pituitary tumor", "non-functioning pituitary tumour", "non-functioning tumor of pituitary", "non-functioning tumor of pituitary gland", "non-functioning tumor of the pituitary", "non-functioning tumor of the pituitary gland", "non-functioning tumour of pituitary", "non-functioning tumour of pituitary gland", "non-functioning tumour of the pituitary", "non-functioning tumour of the pituitary gland", "nonfunctional pituitary gland neoplasm", "pituitary gland non-functioning endocrine neoplasm"], "xref": ["GARD:0023586", "MEDGEN:756062", "NCIT:C4009", "SCTID:448563005", "UMLS:C3163649"]}
{"category": ["biolink:Disease"], "description": "A hormone producing pituitary gland tumor, associated with a hormonal syndrome.", "id": "MONDO:0003604", "name": "Functioning pituitary gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["functioning endocrine neoplasm of pituitary gland", "functioning pituitary gland neoplasm", "functioning pituitary neoplasm", "hormone producing pituitary neoplasm", "pituitary gland functioning endocrine neoplasm", "pituitary neoplasms, hormone producing"], "xref": ["DOID:5716", "GARD:0023587", "ICD9:237.0", "MEDGEN:163414", "NCIT:C7047", "SCTID:448148000", "UMLS:C0851693"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the adrenal medulla", "id": "MONDO:0003606", "name": "Adrenal medulla cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adrenal medulla cancer", "cancer of adrenal medulla", "malignant adrenal medulla neoplasm", "malignant adrenal medulla tumor", "malignant adrenal medulla tumour", "malignant neoplasm of adrenal medulla", "malignant neoplasm of the adrenal medulla", "malignant tumor of adrenal medulla", "malignant tumor of the adrenal medulla", "malignant tumour of adrenal medulla", "malignant tumour of the adrenal medulla"], "xref": ["DOID:5719", "GARD:0005755", "MEDGEN:87485", "NCIT:C4396", "SCTID:371965009", "UMLS:C0344456", "icd11.foundation:1603907778"]}
{"category": ["biolink:Disease"], "description": "A neuritis that involves the forelimb.", "id": "MONDO:0003607", "name": "Neuritis of upper limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["forelimb neuritis", "neuritis of forelimb"], "xref": ["DOID:572", "GARD:0023588", "ICD9:354", "MEDGEN:509640", "UMLS:C0154741"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.", "id": "MONDO:0003608", "name": "Optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrophy of optic disk"], "xref": ["DOID:5723", "ICD10CM:H47.2", "ICD9:377.1", "ICD9:377.10", "MEDGEN:18180", "MESH:D009896", "NCIT:C34863", "SCTID:76976005", "UMLS:C0029124", "icd11.foundation:568505454"]}
{"category": ["biolink:Disease"], "description": "A rare benign cystadenoma that arises from the seminal vesicle.", "id": "MONDO:0003609", "name": "Seminal vesicle cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["seminal vesicle cystadenoma"], "xref": ["DOID:5724", "MEDGEN:274209", "NCIT:C39907", "UMLS:C1519234"]}
{"category": ["biolink:Disease"], "description": "An exceptionally rare cystadenoma that arises from the rete ovarii.", "id": "MONDO:0003610", "name": "Rete ovarii cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rete ovarii cystadenoma"], "xref": ["DOID:5725", "MEDGEN:308160", "NCIT:C40019", "UMLS:C1514907"]}
{"category": ["biolink:Disease"], "description": "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.", "id": "MONDO:0003611", "name": "Uterine ligament papillary cystadenoma associated with von hippel-lindau disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease"], "xref": ["DOID:5726", "MEDGEN:770964", "NCIT:C40142", "UMLS:C3642324"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the uterine ligament.", "id": "MONDO:0003612", "name": "Uterine ligament cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of uterine ligament", "malignant neoplasm of uterine ligament", "malignant uterine ligament neoplasm", "uterine ligament cancer"], "xref": ["DOID:5727", "MEDGEN:923070", "NCIT:C126498", "UMLS:C0864950"]}
{"category": ["biolink:Disease"], "description": "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.", "id": "MONDO:0003614", "name": "Intravenous leiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intravenous leiomyomatosis"], "xref": ["DOID:5729", "ICD9:238.1", "MEDGEN:83417", "NCIT:C4518", "SCTID:254883003", "UMLS:C0346200"]}
{"category": ["biolink:Disease"], "description": "Any nerve disorder caused by the entrapment and compression of a nerve.", "id": "MONDO:0003615", "name": "Nerve compression syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["entrapment neuropathy"], "xref": ["DOID:573", "EFO:0009487", "MEDGEN:266933", "MESH:D009408", "NCIT:C27221", "SCTID:45781009", "UMLS:C1510429"]}
{"category": ["biolink:Disease"], "description": "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.", "id": "MONDO:0003616", "name": "Salpingitis isthmica nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5730", "MEDGEN:82840", "NCIT:C40119", "SCTID:36742000", "UMLS:C0269043", "icd11.foundation:1586025352"]}
{"category": ["biolink:Disease"], "description": "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.", "id": "MONDO:0003617", "name": "Chronic salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["salpingitis, chronic"], "xref": ["DOID:5731", "ICD10CM:N70.11", "MEDGEN:82839", "NCIT:C40118", "SCTID:55551005", "UMLS:C0269041", "icd11.foundation:1932766800"]}
{"category": ["biolink:Disease"], "description": "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.", "id": "MONDO:0003618", "name": "Pyosalpinx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5732", "MEDGEN:18785", "NCIT:C34968", "SCTID:397810006", "UMLS:C0034220"]}
{"category": ["biolink:Disease"], "description": "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.", "id": "MONDO:0003619", "name": "Salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fallopian tube inflammation", "inflammation of fallopian tube"], "xref": ["DOID:5733", "MEDGEN:20646", "MESH:D012488", "NCIT:C26880", "SCTID:88157006", "UMLS:C0036130"]}
{"category": ["biolink:Disease"], "description": "A disease involving the peripheral nervous system.", "id": "MONDO:0003620", "name": "Peripheral nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["PNS (peripheral nervous system) diseases", "PNS disease", "PNS diseases", "disease of peripheral nervous system", "disease or disorder of peripheral nervous system", "disorder of peripheral nervous system", "disorder of the peripheral nervous system", "peripheral nervous system disease", "peripheral nervous system disease or disorder", "peripheral nervous system disorder", "peripheral nervous system disorders"], "xref": ["DOID:574", "EFO:0009387", "ICD9:350-359", "ICD9:356.9", "MEDGEN:892389", "MESH:D010523", "NCIT:C27580", "SCTID:42658009", "UMLS:C4025831"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.", "id": "MONDO:0003621", "name": "Small intestinal vasoactive intestinal peptide producing tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["small intestinal VIP-producing NET", "small intestinal VIP-producing neuroendocrine tumor", "small intestinal VIP-producing neuroendocrine tumour", "small intestinal VIPoma", "small intestinal vasoactive intestinal peptide producing tumor"], "xref": ["DOID:5740", "GARD:0023590", "MEDGEN:277655", "NCIT:C27455", "UMLS:C1336009"]}
{"category": ["biolink:Disease"], "description": "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.", "id": "MONDO:0003622", "name": "Pancreatic vasoactive intestinal peptide producing tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic VIP producing NET", "pancreatic VIP producing neoplasm", "pancreatic VIP producing tumor", "pancreatic VIP-producing neuroendocrine tumor", "pancreatic VIP-producing neuroendocrine tumour", "pancreatic vasoactive intestinal peptide producing neoplasm", "pancreatic vasoactive intestinal peptide producing tumor"], "xref": ["DOID:5741", "GARD:0023591", "MEDGEN:453212", "NCIT:C27454", "UMLS:C2033037"]}
{"category": ["biolink:Disease"], "description": "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.", "id": "MONDO:0003624", "name": "Acinic cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinar cell breast carcinoma", "acinic cell breast carcinoma", "breast carcinoma of acinar cell"], "xref": ["DOID:5743", "GARD:0027643", "MEDGEN:272988", "NCIT:C40367", "UMLS:C1515868"]}
{"category": ["biolink:Disease"], "description": "A rare serous adenocarcinoma that arises from the uterine ligament.", "id": "MONDO:0003626", "name": "Uterine ligament serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["uterine ligament serous adenocarcinoma"], "xref": ["DOID:5747", "GARD:0023592", "MEDGEN:275561", "NCIT:C40136", "UMLS:C1519872"]}
{"category": ["biolink:Disease"], "description": "A rheumatologic disorder that involves the pulmonary valve.", "id": "MONDO:0003627", "name": "Rheumatic pulmonary valve disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonary valve rheumatologic disorder", "rheumatic disease of pulmonary valve", "rheumatologic disorder of pulmonary valve"], "xref": ["DOID:5748", "ICD9:397.1", "MEDGEN:510027", "SCTID:18687009", "UMLS:C0155579"]}
{"category": ["biolink:Disease"], "description": "A disease involving the pulmonary valve.", "id": "MONDO:0003628", "name": "Pulmonary valve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of pulmonary valve", "disease or disorder of pulmonary valve", "disorder of pulmonary valve", "pulmonary valve disease", "pulmonary valve disease or disorder", "pulmonary valve disorder"], "xref": ["DOID:5749", "EFO:0009564", "ICD9:424.3", "MEDGEN:18767", "NCIT:C78579", "SCTID:76267008", "UMLS:C0034087", "icd11.foundation:1146446025"]}
{"category": ["biolink:Disease"], "description": "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.", "id": "MONDO:0003630", "name": "Pancreatic serous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreas serous adenocarcinoma", "pancreatic serous cystadenocarcinoma", "serous cystadenocarcinoma of pancreas", "serous cystadenocarcinoma of the pancreas"], "xref": ["DOID:5751", "GARD:0021781", "MEDGEN:233832", "NCIT:C5724", "Orphanet:424073", "UMLS:C1335315", "icd11.foundation:1624575808"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.", "id": "MONDO:0003631", "name": "Cervical serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical serous adenocarcinoma"], "xref": ["DOID:5752", "GARD:0023593", "MEDGEN:308950", "NCIT:C40201", "UMLS:C1516431"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the endocervix.", "id": "MONDO:0003632", "name": "Endocervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endocervix inflammation", "inflammation of endocervix"], "xref": ["DOID:5757", "MEDGEN:4942", "NCIT:C26762", "SCTID:31354001", "UMLS:C0014127", "icd11.foundation:803236221"]}
{"category": ["biolink:Disease"], "description": "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.", "id": "MONDO:0003633", "name": "Malignant mesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesenchymoma, malignant", "mesenchymoma, malignant (morphologic abnormality)"], "xref": ["DOID:5758", "ICDO:8990/3", "MEDGEN:87252", "NCIT:C4268", "UMLS:C0334492"]}
{"category": ["biolink:Disease"], "description": "The presence of abnormal amounts of protein in the urine.", "id": "MONDO:0003634", "name": "Proteinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:576", "ICD10CM:R80", "ICD9:791.0", "MEDGEN:10976", "MESH:D011507", "UMLS:C0033687", "icd11.foundation:930895737"]}
{"category": ["biolink:Disease"], "description": "A very rare breast adenocarcinoma with sebaceous differentiation.", "id": "MONDO:0003635", "name": "Sebaceous breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast sebaceous adenocarcinoma", "sebaceous adenocarcinoma of breast"], "xref": ["DOID:5760", "MEDGEN:276789", "NCIT:C40369", "UMLS:C1519207"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.", "id": "MONDO:0003636", "name": "Vulvar sebaceous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mammalian vulva sebaceous adenocarcinoma", "sebaceous adenocarcinoma of mammalian vulva"], "xref": ["DOID:5761", "GARD:0023594", "MEDGEN:276996", "NCIT:C40309", "UMLS:C1520094"]}
{"category": ["biolink:Disease"], "description": "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.", "id": "MONDO:0003637", "name": "Clear cell-sugar-tumor of the lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CCSTL", "Sugar tumor", "Sugar tumour", "clear cell-Sugar-tumor of lung", "clear cell-Sugar-tumor of the lung", "lung clear cell tumor", "lung clear cell tumour"], "xref": ["DOID:5763", "GARD:0023595", "MEDGEN:232370", "NCIT:C38152", "UMLS:C1333065"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.", "id": "MONDO:0003638", "name": "Lung meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung meningioma", "lung meningioma (disease)", "meningioma (disease) of lung", "meningioma of lung", "meningioma of the lung", "pulmonary meningioma"], "xref": ["DOID:5764", "GARD:0023596", "MEDGEN:232712", "NCIT:C5668", "UMLS:C1334450"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the hilar region of the lung.", "id": "MONDO:0003639", "name": "Lung hilum neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hilar lung neoplasm", "hilar lung tumor", "hilar lung tumour", "lung hilum neoplasm", "lung hilum tumor", "lung hilum tumour", "lung hilus neoplasm", "lung hilus neoplasm (disease)", "lung hilus tumor", "lung hilus tumour", "neoplasm of lung hilus", "tumor of lung hilus", "tumour of lung hilus"], "xref": ["DOID:5767", "MEDGEN:224849", "NCIT:C5671", "SCTID:126707007", "UMLS:C1290358"]}
{"category": ["biolink:Disease"], "description": "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.", "id": "MONDO:0003640", "name": "Verruciform xanthoma of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutaneous verruciform xanthoma", "skin verruciform xanthoma", "verruciform xanthoma", "verruciform xanthoma (morphologic abnormality)", "verruciform xanthoma of the skin"], "xref": ["DOID:5769", "ICD9:215.9", "MEDGEN:91076", "NCIT:C4478", "SCTID:254756007", "UMLS:C0346054"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.", "id": "MONDO:0003641", "name": "Central nervous system hematopoietic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS haematopoietic neoplasm", "CNS haematopoietic tumour", "CNS hematopoietic neoplasm", "CNS hematopoietic tumor", "central nervous system haematopoietic and lymphoid system neoplasm", "central nervous system haematopoietic neoplasms", "central nervous system haematopoietic tumour", "central nervous system hematopoietic and lymphoid system neoplasm", "central nervous system hematopoietic neoplasm", "central nervous system hematopoietic neoplasms", "central nervous system hematopoietic tumor", "haematopoietic and lymphoid system neoplasm of central nervous system", "haematopoietic neoplasm of CNS", "haematopoietic neoplasm of central nervous system", "haematopoietic neoplasm of the CNS", "haematopoietic neoplasm of the central nervous system", "haematopoietic tumour of central nervous system", "haematopoietic tumour of the central nervous system", "hematopoietic and lymphoid system neoplasm of central nervous system", "hematopoietic neoplasm of CNS", "hematopoietic neoplasm of central nervous system", "hematopoietic neoplasm of the CNS", "hematopoietic neoplasm of the central nervous system", "hematopoietic tumor of central nervous system", "hematopoietic tumor of the central nervous system", "lymphomas and hemopoietic neoplasms of CNS", "lymphomas and hemopoietic neoplasms of the CNS"], "xref": ["DOID:5772", "GARD:0023597", "MEDGEN:234101", "NCIT:C5503", "UMLS:C1332882"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.", "id": "MONDO:0003643", "name": "Giant hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["giant hemangioma"], "xref": ["DOID:5774", "GARD:0023598", "MEDGEN:272670", "NCIT:C27777", "UMLS:C1333817"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma arising from the colon.", "id": "MONDO:0003644", "name": "Cavernous hemangioma of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cavernous angioma of colon", "cavernous angioma of the colon", "cavernous hemangioma of colon", "cavernous hemangioma of the colon", "colon cavernous angioma", "colon cavernous hemangioma", "colonic cavernous angioma", "colonic cavernous hemangioma"], "xref": ["DOID:5775", "GARD:0023599", "MEDGEN:232084", "NCIT:C5395", "UMLS:C1333086"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma arising from the face.", "id": "MONDO:0003645", "name": "Cavernous hemangioma of face", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cavernous hemangioma of face", "cavernous hemangioma of the Face", "face cavernous hemangioma"], "xref": ["DOID:5776", "EFO:1000152", "GARD:0023600", "HP:0007486", "MEDGEN:234097", "NCIT:C7053", "UMLS:C1332863"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0003646", "name": "Rectum neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["neuroendocrine neoplasm of rectum", "neuroendocrine neoplasm of the rectum", "rectal neuroendocrine neoplasm", "rectum neuroendocrine neoplasm"], "xref": ["DOID:5777", "GARD:0019756", "MEDGEN:277576", "NCIT:C5698", "UMLS:C1335686", "icd11.foundation:1619951900"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003647", "name": "Atrophic flaccid tympanic membrane", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5781", "ICD10CM:H73.81", "ICD9:384.81", "MEDGEN:509982", "SCTID:38645004", "UMLS:C0155470"]}
{"category": ["biolink:Disease"], "description": "A disease involving the tympanic membrane.", "id": "MONDO:0003648", "name": "Tympanic membrane disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of tympanic membrane", "disease or disorder of tympanic membrane", "disorder of tympanic membrane", "tympanic membrane disease", "tympanic membrane disease or disorder"], "xref": ["DOID:5782", "EFO:0009570", "ICD9:384.9", "MEDGEN:508258", "SCTID:21426000", "UMLS:C0041825"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.", "id": "MONDO:0003649", "name": "Esophageal neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEN of esophagus", "NEN of oesophagus", "esophageal NEN", "esophageal NET", "esophageal neuroendocrine neoplasm", "esophageal neuroendocrine tumor", "esophageal well differentiated endocrine tumor", "esophageal well differentiated endocrine tumor/carcinoma", "esophageal well differentiated endocrine tumour", "esophagus NET", "esophagus neuroendocrine neoplasm", "esophagus neuroendocrine tumor", "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade", "neuroendocrine neoplasm of esophagus", "neuroendocrine neoplasm of oesophagus", "neuroendocrine tumour of oesophagus", "oesophagus NET", "oesophagus neuroendocrine neoplasm", "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade", "oesophagus neuroendocrine tumour"], "xref": ["DOID:5784", "GARD:0022058", "MEDGEN:459486", "NCIT:C95616", "Orphanet:506136", "UMLS:C2987260", "icd11.foundation:1167478749", "icd11.foundation:890879256"]}
{"category": ["biolink:Disease"], "description": "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.", "id": "MONDO:0003650", "name": "Mixed hepatoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed epithelial and mesenchymal hepatoblastoma"], "xref": ["DOID:5789", "GARD:0023601", "ICDO:8970/3", "MEDGEN:233194", "NCIT:C7097", "UMLS:C1334784"]}
{"category": ["biolink:Disease"], "description": "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.", "id": "MONDO:0003651", "name": "Macrotrabecular hepatoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5798", "GARD:0023602", "MEDGEN:233654", "NCIT:C7095", "UMLS:C1334543"]}
{"category": ["biolink:Disease"], "description": "Urolithiasis in which the composition of the stones is predominantly urate.", "id": "MONDO:0003652", "name": "Acute urate nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["uric acid nephrolithiasis", "uric acid urolithiasis"], "xref": ["DOID:580", "ICD9:274.11", "ICD9:583.9", "MEDGEN:574593", "NCIT:C123037", "SCTID:236496000", "UMLS:C0341712", "icd11.foundation:1011901523"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003653", "name": "Stork bite", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:5806", "MEDGEN:870384", "SCTID:254211001", "UMLS:C4024829", "icd11.foundation:400551861"]}
{"category": ["biolink:Disease"], "description": "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.", "id": "MONDO:0003654", "name": "Childhood parosteal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood parosteal osteogenic sarcoma", "childhood parosteal osteosarcoma"], "xref": ["DOID:5809", "GARD:0023604", "MEDGEN:272467", "NCIT:C6589", "UMLS:C1332994"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.", "id": "MONDO:0003655", "name": "Cerebral lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral lymphoma", "primary lymphoma of the cerebrum", "primary lymphoma, brain"], "xref": ["DOID:5815", "GARD:0023605", "MEDGEN:116109", "NCIT:C7611", "SCTID:276836002", "UMLS:C0240803"]}
{"category": ["biolink:Disease"], "description": "A laboratory test result which indicates free hemoglobin in the urine.", "id": "MONDO:0003656", "name": "Hemoglobinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:582", "ICD10CM:R82.3", "ICD9:791.2", "MEDGEN:6792", "MESH:D006456", "UMLS:C0019048"]}
{"category": ["biolink:Disease"], "description": "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.", "id": "MONDO:0003658", "name": "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma", "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma", "Gray zone lymphoma", "Grey zone lymphoma", "Hodgkin-like anaplastic large cell lymphoma", "large B-cell lymphoma with Hodgkin features"], "xref": ["DOID:5822", "GARD:0010897", "ICDO:9596/3", "MEDGEN:234323", "NCIT:C37869", "UMLS:C1333878"]}
{"category": ["biolink:Disease"], "description": "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.", "id": "MONDO:0003659", "name": "Pediatric lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["childhood lymphoma", "pediatric lymphoma"], "xref": ["DOID:5823", "GARD:0023606", "MEDGEN:232062", "NANDO:2100004", "NCIT:C5165", "UMLS:C1332979"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that occurs in an adult.", "id": "MONDO:0003660", "name": "Adult lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adult lymphoma", "lymphoma of adults"], "xref": ["DOID:5825", "GARD:0023607", "MEDGEN:233965", "NANDO:2100004", "NCIT:C7587", "UMLS:C1332206"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.", "id": "MONDO:0003661", "name": "Breast lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["breast lymphoma", "lymphoma of breast", "lymphoma of the breast", "primary breast lymphoma"], "xref": ["DOID:5826", "GARD:0023608", "MEDGEN:309939", "NCIT:C4671", "SCTID:278052009", "UMLS:C1704251"]}
{"category": ["biolink:Disease"], "description": "A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.", "id": "MONDO:0003663", "name": "Uterine ligament endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endometrioid adenocarcinoma of uterine ligament", "uterine ligament endometrioid adenocarcinoma"], "xref": ["DOID:5829", "GARD:0023609", "NCIT:C40138"]}
{"category": ["biolink:Disease"], "description": "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.", "id": "MONDO:0003664", "name": "Hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anaemia hemolytic", "anemia hemolytic", "anemia, hemolytic", "hemolytic anemia"], "xref": ["DOID:583", "GARD:0023610", "ICD10CM:D55-D59", "MEDGEN:1916", "MESH:D000743", "NANDO:2200636", "NCIT:C34376", "SCTID:61261009", "UMLS:C0002878"]}
{"category": ["biolink:Disease"], "description": "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.", "id": "MONDO:0003665", "name": "Cervical endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cervical endometrioid adenocarcinoma", "cervical endometrioid carcinoma", "cervix endometrioid adenocarcinoma", "cervix endometrioid carcinoma", "cervix uteri endometrioid adenocarcinoma", "cervix uteri endometrioid carcinoma", "endometrioid adenocarcinoma of cervix", "endometrioid adenocarcinoma of cervix uteri", "endometrioid adenocarcinoma of the cervix", "endometrioid adenocarcinoma of the cervix uteri", "endometrioid adenocarcinoma of the uterine cervix", "endometrioid adenocarcinoma of uterine cervix", "endometrioid carcinoma of cervix", "endometrioid carcinoma of cervix uteri", "endometrioid carcinoma of the cervix", "endometrioid carcinoma of the cervix uteri", "endometrioid carcinoma of the uterine cervix", "endometrioid carcinoma of uterine cervix", "uterine cervix endometrioid adenocarcinoma", "uterine cervix endometrioid carcinoma"], "xref": ["DOID:5830", "EFO:1000164", "GARD:0023611", "MEDGEN:272450", "NCIT:C6343", "ONCOTREE:CEEN", "UMLS:C1332913"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.", "id": "MONDO:0003666", "name": "Fallopian tube endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endometrioid adenocarcinoma of fallopian tube", "endometrioid adenocarcinoma of the fallopian tube", "endometrioid carcinoma of fallopian tube", "endometrioid carcinoma of the fallopian tube", "fallopian tube endometrioid adenocarcinoma", "fallopian tube endometrioid carcinoma"], "xref": ["DOID:5831", "GARD:0023612", "MEDGEN:232185", "NCIT:C6279", "UMLS:C1333592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003668", "name": "Extragonadal seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extragonadal primary seminoma", "extragonadal seminoma", "primary extragonadal seminoma"], "xref": ["DOID:5838", "GARD:0023613", "MEDGEN:234243", "NCIT:C7327", "UMLS:C1333502"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.", "id": "MONDO:0003669", "name": "Testicular seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["seminoma of testis", "seminoma of the testis", "seminomatous germ cell tumor of testis", "seminomatous germ cell tumour of testis", "testicular seminoma", "testicular seminoma (disease)", "testicular seminoma Pure", "testicular seminomatous germ cell tumor", "testicular seminomatous germ cell tumour", "testis seminoma"], "xref": ["DOID:5842", "EFO:0003101", "GARD:0004792", "HP:0100617", "ICD9:186.9", "MEDGEN:1790467", "NCIT:C7328", "Orphanet:842", "SCTID:255107005", "UMLS:C5551428"]}
{"category": ["biolink:Disease"], "description": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.", "id": "MONDO:0003670", "name": "Posteroinferior myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["posteroinferior myocardial infarction by ECG finding", "posteroinferior myocardial infarction by EKG finding"], "xref": ["DOID:5843", "MEDGEN:216044", "UMLS:C1142433"]}
{"category": ["biolink:Disease"], "description": "A myocardial infarction (disease) that involves the cardiac septum.", "id": "MONDO:0003671", "name": "Septal myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiac septum myocardial infarction (disease)", "myocardial infarction (disease) of cardiac septum"], "xref": ["DOID:5846", "MEDGEN:148176", "UMLS:C0746727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003672", "name": "Posterior myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["true posterior myocardial infarction"], "xref": ["DOID:5847", "MEDGEN:90949", "SCTID:194802003", "UMLS:C0340319"]}
{"category": ["biolink:Disease"], "description": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.", "id": "MONDO:0003673", "name": "Apical myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5848", "MEDGEN:770959", "UMLS:C3642319"]}
{"category": ["biolink:Disease"], "description": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.", "id": "MONDO:0003674", "name": "Subendocardial myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myocardial infarction (disease) of subendocardium layer", "subendocardium layer myocardial infarction (disease)"], "xref": ["DOID:5849", "MEDGEN:75500", "UMLS:C0262568"]}
{"category": ["biolink:Disease"], "description": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.", "id": "MONDO:0003675", "name": "Posterolateral myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5851", "MEDGEN:207274", "UMLS:C1112662"]}
{"category": ["biolink:Disease"], "description": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.", "id": "MONDO:0003676", "name": "Inferolateral myocardial infarct", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5852", "MEDGEN:760761", "UMLS:C3537017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003677", "name": "Lateral myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5853", "MEDGEN:83306", "UMLS:C0340312"]}
{"category": ["biolink:Disease"], "description": "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.", "id": "MONDO:0003678", "name": "Silent myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["silent myocardial infarction"], "xref": ["DOID:5854", "MEDGEN:83307", "NCIT:C35400", "SCTID:233843008", "UMLS:C0340324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003679", "name": "Anteroseptal myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5855", "MEDGEN:78087", "UMLS:C0262565"]}
{"category": ["biolink:Disease"], "description": "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.", "id": "MONDO:0003680", "name": "Periosteal chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chondrosarcoma (disease) of periosteum", "juxtacortical chondrosarcoma", "juxtacortical chondrosarcoma (morphologic abnormality)", "periosteal chondrosarcoma", "periosteum chondrosarcoma (disease)"], "xref": ["DOID:5859", "DOID:5866", "GARD:0023614", "ICDO:9221/3", "MEDGEN:90806", "NCIT:C7357", "UMLS:C0334549"]}
{"category": ["biolink:Disease"], "description": "A chondrosarcoma characterized by the presence of myxoid changes.", "id": "MONDO:0003681", "name": "Myxoid chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:5861", "GARD:0023615", "ICDO:9231/3", "MEDGEN:87262", "NCIT:C4303", "ONCOTREE:MYCHS", "UMLS:C0334551"]}
{"category": ["biolink:Disease"], "description": "A non-disseminated skeletal or extraskeletal chondrosarcoma.", "id": "MONDO:0003682", "name": "Localized chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chondrosarcoma, localised", "chondrosarcoma, localized", "localized chondrosarcoma"], "xref": ["DOID:5862", "GARD:0023616", "MEDGEN:163180", "NCIT:C8778", "UMLS:C0855011"]}
{"category": ["biolink:Disease"], "description": "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.", "id": "MONDO:0003684", "name": "Clear cell chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["clear cell chondrosarcoma", "clear cell chondrosarcoma (morphologic abnormality)"], "xref": ["DOID:5867", "GARD:0023617", "ICDO:9242/3", "MEDGEN:226848", "NCIT:C6475", "UMLS:C1266167"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that involves the retroperitoneal space.", "id": "MONDO:0003685", "name": "Retroperitoneal germ cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["germ cell neoplasm of retroperitoneum", "germ cell neoplasm of the retroperitoneum", "germ cell tumor of retroperitoneum", "germ cell tumor of the retroperitoneum", "germ cell tumour of retroperitoneum", "germ cell tumour of the retroperitoneum", "retroperitoneal germ cell tumor", "retroperitoneal germ cell tumour"], "xref": ["DOID:5874", "GARD:0023618", "MEDGEN:233406", "NCIT:C6447", "UMLS:C1335776"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.", "id": "MONDO:0003686", "name": "Apocrine sweat gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["apocrine neoplasm", "apocrine neoplasm of skin", "apocrine neoplasm of the skin", "apocrine skin neoplasm", "apocrine skin tumor", "apocrine skin tumour", "apocrine sweat gland neoplasm (disease)", "apocrine sweat gland tumor", "apocrine sweat gland tumour", "apocrine tumor", "apocrine tumor of skin", "apocrine tumor of the skin", "apocrine tumour", "apocrine tumour of skin", "apocrine tumour of the skin", "neoplasm of apocrine sweat gland", "tumor of apocrine sweat gland", "tumour of apocrine sweat gland"], "xref": ["DOID:5876", "MEDGEN:272320", "NCIT:C6798", "UMLS:C1332318"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the endocardium.", "id": "MONDO:0003687", "name": "Endocardium cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of endocardium", "endocardium cancer", "malignant endocardial neoplasm", "malignant endocardial tumor", "malignant endocardial tumour", "malignant endocardium neoplasm", "malignant neoplasm of endocardium", "malignant neoplasm of the endocardium", "malignant tumor of endocardium", "malignant tumor of the endocardium", "malignant tumour of endocardium", "malignant tumour of the endocardium"], "xref": ["DOID:5877", "GARD:0027644", "MEDGEN:91107", "NCIT:C4570", "SCTID:363436001", "UMLS:C0346612"]}
{"category": ["biolink:Disease"], "description": "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.", "id": "MONDO:0003688", "name": "Well differentiated papillary mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["WDPM", "benign/Intermediate mesothelioma", "well differentiated papillary mesothelioma", "well-differentiated mesothelial papillary neoplasm", "well-differentiated mesothelial papillary tumor", "well-differentiated mesothelial papillary tumour", "well-differentiated papillary neoplasm of mesothelium", "well-differentiated papillary neoplasm of the mesothelium", "well-differentiated papillary tumor of mesothelium", "well-differentiated papillary tumor of the mesothelium", "well-differentiated papillary tumour of mesothelium", "well-differentiated papillary tumour of the mesothelium"], "xref": ["DOID:5884", "ICDO:9052/1", "MEDGEN:234487", "NCIT:C7635", "UMLS:C1337012"]}
{"category": ["biolink:Disease"], "description": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.", "id": "MONDO:0003689", "name": "Familial hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital hemolytic anemia", "hereditary hemolytic anemia"], "xref": ["DOID:589", "GARD:0006167", "ICD9:282", "ICD9:282.9", "MEDGEN:1919", "MESH:D000745", "NANDO:2100183", "NCIT:C34379", "SCTID:42601008", "UMLS:C0002881"]}
{"category": ["biolink:Disease"], "description": "An anaplastic ependymoma occurring in adults.", "id": "MONDO:0003690", "name": "Adult anaplastic ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult anaplastic ependymoma", "adult malignant ependymoma", "anaplastic ependymoma of adults", "malignant adult ependymoma"], "xref": ["DOID:5890", "GARD:0023619", "MEDGEN:83709", "NCIT:C8269", "UMLS:C0280787"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymoma occurring in children.", "id": "MONDO:0003691", "name": "Childhood malignant mesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood malignant mesenchymoma", "malignant mesenchymoma of childhood", "paediatric malignant mesenchymoma", "pediatric malignant mesenchymoma"], "xref": ["DOID:5893", "MEDGEN:124688", "NCIT:C8097", "UMLS:C0279991"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymoma occurring in adults.", "id": "MONDO:0003692", "name": "Adult malignant mesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adult malignant mesenchymoma", "malignant mesenchymoma of adults"], "xref": ["DOID:5894", "MEDGEN:83523", "NCIT:C7947", "UMLS:C0279548"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.", "id": "MONDO:0003693", "name": "Clear cell cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell cystadenofibroma"], "xref": ["DOID:5895", "MEDGEN:235121", "NCIT:C8988", "UMLS:C1377853"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.", "id": "MONDO:0003694", "name": "Ovarian clear cell cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell cystadenofibroma of ovary", "ovarian clear cell cystadenofibroma", "ovary clear cell cystadenofibroma"], "xref": ["DOID:5896", "MEDGEN:275283", "NCIT:C40086", "UMLS:C1518695"]}
{"category": ["biolink:Disease"], "description": "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.", "id": "MONDO:0003695", "name": "Ovarian clear cell adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell adenofibroma of ovary", "ovarian clear cell adenofibroma", "ovary clear cell adenofibroma"], "xref": ["DOID:5897", "MEDGEN:309502", "NCIT:C40085", "UMLS:C1518694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003697", "name": "Non-invasive verrucous carcinoma of the penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-invasive verrucous carcinoma of penis", "non-invasive verrucous carcinoma of the penis"], "xref": ["DOID:5907", "GARD:0023620", "MEDGEN:233765", "NCIT:C27791", "UMLS:C1334984"]}
{"category": ["biolink:Disease"], "description": "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.", "id": "MONDO:0003698", "name": "Penis verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["penis verrucous carcinoma", "squamous carcinoma of penis, verrucous type", "squamous carcinoma of the penis, verrucous type", "verrucous carcinoma of penis", "verrucous carcinoma of the penis", "verrucous penile carcinoma", "verrucous penile squamous carcinoma", "verrucous squamous carcinoma of penis", "verrucous squamous carcinoma of the penis"], "xref": ["DOID:5908", "GARD:0023621", "MEDGEN:234477", "NCIT:C6982", "ONCOTREE:VPSCC", "UMLS:C1336955"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.", "id": "MONDO:0003699", "name": "Phobic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["phobia"], "xref": ["DOID:591", "EFO:1001908", "ICD9:300.2", "ICD9:300.20", "MEDGEN:83881", "MESH:D010698", "NCIT:C35420", "SCTID:386810004", "UMLS:C0349231"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the brachial nerve plexus.", "id": "MONDO:0003700", "name": "Brachial plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brachial nerve plexus neoplasm", "brachial nerve plexus neoplasm (disease)", "brachial nerve plexus tumor", "brachial nerve plexus tumour", "brachial plexus neoplasm", "brachial plexus neoplasms", "brachial plexus tumor", "brachial plexus tumour", "neoplasm of brachial nerve plexus", "neoplasm of brachial plexus", "neoplasm of the brachial plexus", "tumor of brachial nerve plexus", "tumor of brachial plexus", "tumor of the brachial plexus", "tumour of brachial nerve plexus", "tumour of brachial plexus", "tumour of the brachial plexus"], "xref": ["DOID:5913", "GARD:0023622", "MEDGEN:272380", "NCIT:C5823", "UMLS:C1332602"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.", "id": "MONDO:0003701", "name": "Thyroid gland diffuse sclerosing papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonencapsulated sclerosing adenocarcinoma", "nonencapsulated sclerosing carcinoma", "nonencapsulated sclerosing neoplasm", "nonencapsulated sclerosing papillary thyroid carcinoma", "nonencapsulated sclerosing tumor", "nonencapsulated sclerosing tumour", "thyroid gland diffuse sclerosing papillary carcinoma"], "xref": ["DOID:5914", "GARD:0023623", "ICDO:8350/3", "MEDGEN:87218", "NCIT:C7427", "UMLS:C0334330"]}
{"category": ["biolink:Disease"], "description": "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.", "id": "MONDO:0003702", "name": "Uterus intravascular leiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intravascular leiomyomatosis of the uterus", "intravascular leiomyomatosis of uterus", "intravenous leiomyomatosis of the uterus", "intravenous leiomyomatosis of uterus", "uterine corpus intravenous leiomyomatosis", "uterus intravenous leiomyomatosis"], "xref": ["DOID:5915", "NCIT:C5356"]}
{"category": ["biolink:Disease"], "description": "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.", "id": "MONDO:0003704", "name": "Uterine corpus diffuse leiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus leiomyomatosis", "leiomyomatosis of body of uterus", "uterine corpus diffuse leiomyomatosis", "uterine corpus leiomyomatosis"], "xref": ["DOID:5916", "DOID:5917", "GARD:0023624", "MEDGEN:275556", "NCIT:C40170", "UMLS:C1519855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003705", "name": "Adult brainstem mixed glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain stem mixed glioma", "adult brainstem mixed glioma"], "xref": ["DOID:5921", "GARD:0023625", "MEDGEN:237180", "NCIT:C9371", "UMLS:C1377915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003706", "name": "Adult brainstem astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain stem astrocytoma", "adult brainstem astrocytoma"], "xref": ["DOID:5922", "GARD:0023626", "MEDGEN:233962", "NCIT:C6954", "UMLS:C1332191"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.", "id": "MONDO:0003707", "name": "Distal biliary tract carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of distal biliary tract", "distal bile duct cancer", "distal bile duct carcinoma", "extrahepatic (distal) bile duct cancer"], "xref": ["DOID:5923", "GARD:0023627", "MEDGEN:232133", "NCIT:C7109", "UMLS:C1333308"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.", "id": "MONDO:0003708", "name": "Extrahepatic bile duct small cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Oat cell carcinoma of extrahepatic bile duct", "Oat cell carcinoma of the extrahepatic bile duct", "Oat cell extrahepatic bile duct carcinoma", "extrahepatic bile duct small cell NEC", "extrahepatic bile duct small cell neuroendocrine carcinoma", "small cell adenocarcinoma of extrahepatic bile duct", "small cell adenocarcinoma of the extrahepatic bile duct", "small cell extrahepatic bile duct carcinoma", "small cell extrahepatic bile duct neuroendocrine carcinoma"], "xref": ["DOID:5926", "GARD:0023628", "MEDGEN:277648", "NCIT:C5845", "UMLS:C1335979"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.", "id": "MONDO:0003709", "name": "Agoraphobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fear of open spaces (finding)"], "xref": ["DOID:593", "EFO:1001872", "ICD10CM:F40.0", "MEDGEN:175", "MESH:D000379", "NCIT:C34362", "SCTID:70691001", "UMLS:C0001818", "icd11.foundation:530592394"]}
{"category": ["biolink:Disease"], "description": "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.", "id": "MONDO:0003710", "name": "Ovarian mixed germ cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mixed germ cell neoplasm of ovary", "mixed germ cell neoplasm of the ovary", "mixed germ cell tumor of ovary", "mixed germ cell tumor of the ovary", "mixed germ cell tumour of ovary", "mixed germ cell tumour of the ovary", "ovarian mixed germ cell neoplasm", "ovarian mixed germ cell tumor", "ovarian mixed germ cell tumour", "ovary mixed germ cell tumor", "ovary mixed germ cell tumour"], "xref": ["DOID:5936", "GARD:0023629", "MEDGEN:83602", "NCIT:C8114", "ONCOTREE:OMGCT", "UMLS:C0280135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003712", "name": "Angiokeratoma of mibelli", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5948", "MEDGEN:78100", "NCIT:C3927", "SCTID:62727008", "UMLS:C0263640", "icd11.foundation:989688835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003713", "name": "Angiokeratoma circumscriptum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5949", "MEDGEN:120485", "NCIT:C7751", "SCTID:21848000", "UMLS:C0263638", "icd11.foundation:225334653"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003714", "name": "Bladder urachal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bladder urachal squamous cell carcinoma"], "xref": ["DOID:5957", "MEDGEN:307289", "NCIT:C39845", "UMLS:C1511206"]}
{"category": ["biolink:Disease"], "description": "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.", "id": "MONDO:0003715", "name": "Bladder urachal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bladder urachal cancer", "bladder urachal carcinoma", "urachal carcinoma"], "xref": ["DOID:5958", "MEDGEN:419015", "MESH:C536475", "NCIT:C39842", "ONCOTREE:URCA", "Orphanet:695020", "UMLS:C2931202"]}
{"category": ["biolink:Disease"], "description": "A papillary transitional cell carcinoma that arises from the renal pelvis.", "id": "MONDO:0003716", "name": "Renal pelvis papillary urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["kidney pelvis papillary carcinoma", "papillary carcinoma of kidney pelvis", "papillary carcinoma of renal pelvis", "papillary carcinoma of the kidney pelvis", "papillary carcinoma of the renal pelvis", "renal pelvis papillary carcinoma", "renal pelvis papillary urothelial carcinoma"], "xref": ["DOID:5973", "GARD:0023630", "MEDGEN:237178", "NCIT:C6148", "UMLS:C1377909"]}
{"category": ["biolink:Disease"], "description": "A papillary tumor originating in the renal pelvis.", "id": "MONDO:0003717", "name": "Renal pelvis papillary tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papillary neoplasm of renal pelvis", "papillary neoplasm of the renal pelvis", "papillary tumor of renal pelvis", "papillary tumor of the renal pelvis", "papillary tumour of renal pelvis", "papillary tumour of the renal pelvis", "renal pelvis papillary tumor", "renal pelvis papillary urothelial neoplasm"], "xref": ["DOID:5975", "MEDGEN:163120", "NCIT:C8603", "UMLS:C0853688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003718", "name": "Occlusion precerebral artery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:5976", "EFO:0009677", "ICD9:433", "ICD9:433.3", "ICD9:433.80", "ICD9:433.81", "ICD9:433.9", "MEDGEN:539069", "SCTID:28790007", "UMLS:C0265090"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the renal pelvis.", "id": "MONDO:0003719", "name": "Renal pelvis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["kidney pelvis neoplasm", "kidney pelvis tumor", "kidney pelvis tumour", "neoplasm of kidney pelvis", "neoplasm of renal pelvis", "neoplasm of the kidney pelvis", "neoplasm of the renal pelvis", "renal pelvis neoplasm", "renal pelvis neoplasm (disease)", "renal pelvis tumor", "renal pelvis tumour", "tumor of kidney pelvis", "tumor of renal pelvis", "tumor of the kidney pelvis", "tumor of the renal pelvis", "tumour of kidney pelvis", "tumour of renal pelvis", "tumour of the kidney pelvis", "tumour of the renal pelvis"], "xref": ["DOID:5977", "ICD9:239.5", "MEDGEN:138049", "NCIT:C8404", "SCTID:126881002", "UMLS:C0346260"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0003720", "name": "Kidney fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fibrosarcoma of kidney", "fibrosarcoma of the kidney", "kidney fibrosarcoma", "kidney fibrosarcoma (disease)", "renal fibrosarcoma"], "xref": ["DOID:5982", "GARD:0023631", "MEDGEN:116050", "NCIT:C7726", "UMLS:C0238208"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the kidney.", "id": "MONDO:0003721", "name": "Kidney osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["kidney extraskeletal osteosarcoma", "kidney osteogenic sarcoma", "kidney osteosarcoma", "kidney osteosarcoma (disease)", "osteogenic sarcoma of kidney", "osteogenic sarcoma of the kidney", "osteosarcoma of kidney", "osteosarcoma of the kidney", "renal extraskeletal osteosarcoma", "renal osteogenic sarcoma", "renal osteosarcoma"], "xref": ["DOID:5983", "GARD:0023632", "MEDGEN:235547", "NCIT:C6181", "UMLS:C1335747"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the internal auditory canal.", "id": "MONDO:0003722", "name": "Internal auditory canal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["internal acoustic meatus meningioma (disease)", "meningioma (disease) of internal acoustic meatus", "meningioma of internal auditory canal", "meningioma of the internal auditory canal"], "xref": ["DOID:5990", "GARD:0023633", "MEDGEN:235221", "NCIT:C5307", "UMLS:C1334227"]}
{"category": ["biolink:Disease"], "description": "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.", "id": "MONDO:0003724", "name": "Non-proliferative fibrocystic change of the breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast fibrocystic change, non-proliferative type", "non-proliferative fibrocystic change", "non-proliferative fibrocystic change of breast"], "xref": ["DOID:5997", "MEDGEN:231966", "NCIT:C6943", "UMLS:C1332628"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.", "id": "MONDO:0003725", "name": "Breast adenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenosis of breast", "adenosis of the breast", "breast adenosis"], "xref": ["DOID:5998", "EFO:0006891", "MEDGEN:39336", "NCIT:C3484", "UMLS:C0085750"]}
{"category": ["biolink:Disease"], "description": "Breast adenosis characterized by the presence of extensive apocrine metaplasia.", "id": "MONDO:0003726", "name": "Apocrine adenosis of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["apocrine adenosis of breast", "apocrine adenosis of the breast", "breast apocrine adenosis"], "xref": ["DOID:5999", "MEDGEN:231072", "NCIT:C5198", "UMLS:C1332314"]}
{"category": ["biolink:Disease"], "description": "An overwhelming, irrational, and persistent fear of animals.", "id": "MONDO:0003727", "name": "Animal phobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fear of animals (finding)", "zoophobia (finding)"], "xref": ["DOID:600", "EFO:1001876", "MEDGEN:65440", "NCIT:C35273", "UMLS:C0233711"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0003728", "name": "Breast fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast fibrosarcoma", "breast fibrosarcoma (disease)", "fibrosarcoma of breast", "fibrosarcoma of the breast"], "xref": ["DOID:6001", "GARD:0023634", "MEDGEN:272385", "NCIT:C5185", "UMLS:C1332630"]}
{"category": ["biolink:Disease"], "description": "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.", "id": "MONDO:0003729", "name": "Aleukemic leukemia cutis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["aleukemic leukemia cutis"], "xref": ["DOID:6003", "GARD:0006892", "MEDGEN:168394", "NCIT:C4983", "UMLS:C0887846"]}
{"category": ["biolink:Disease"], "description": "A leukemia characterized by the absence of leukemic cells in the peripheral blood.", "id": "MONDO:0003730", "name": "Aleukemic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aleukemic leukemia"], "xref": ["DOID:12965", "DOID:6004", "GARD:0023635", "ICD9:208.80", "MEDGEN:164094", "NCIT:C4982", "SCTID:302856006", "UMLS:C0877858"]}
{"category": ["biolink:Disease"], "description": "A mature or immature teratoma affecting the central nervous system and occurring in adults.", "id": "MONDO:0003731", "name": "Adult central nervous system teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult CNS teratoma", "adult central nervous system teratoma", "central nervous system teratoma of adults", "teratoma of adult CNS", "teratoma of adult central nervous system", "teratoma of the adult CNS", "teratoma of the adult central nervous system"], "xref": ["DOID:6015", "GARD:0023636", "MEDGEN:234583", "NCIT:C5794", "UMLS:C1370506"]}
{"category": ["biolink:Disease"], "description": "A central nervous system mature teratoma that occurs in an adult.", "id": "MONDO:0003732", "name": "Adult central nervous system mature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult central nervous system mature teratoma", "central nervous system mature teratoma of adults"], "xref": ["DOID:6016", "GARD:0023637", "MEDGEN:231037", "NCIT:C27400", "UMLS:C1332194"]}
{"category": ["biolink:Disease"], "description": "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)", "id": "MONDO:0003733", "name": "Central nervous system mature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS mature teratoma", "central nervous system mature teratoma", "mature teratoma of CNS", "mature teratoma of central nervous system", "mature teratoma of the CNS", "mature teratoma of the central nervous system"], "xref": ["DOID:6017", "GARD:0023638", "MEDGEN:234103", "NCIT:C7013", "ONCOTREE:BMT", "UMLS:C1332886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003734", "name": "Adult central nervous system immature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult central nervous system immature teratoma"], "xref": ["DOID:6018", "GARD:0023639", "MEDGEN:231036", "NCIT:C27401", "UMLS:C1332193"]}
{"category": ["biolink:Disease"], "description": "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)", "id": "MONDO:0003735", "name": "Central nervous system immature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CNS immature teratoma", "central nervous system immature teratoma", "immature teratoma of CNS", "immature teratoma of central nervous system", "immature teratoma of the CNS", "immature teratoma of the central nervous system"], "xref": ["DOID:6019", "GARD:0023640", "MEDGEN:272442", "NCIT:C7014", "ONCOTREE:BIMT", "UMLS:C1332883"]}
{"category": ["biolink:Disease"], "description": "An overwhelming, irrational, and persistent fear of being diagnosed with cancer.", "id": "MONDO:0003736", "name": "Cancerophobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cancerphobia", "fear of getting cancer (finding)"], "xref": ["DOID:602", "MEDGEN:115929", "NCIT:C35492", "UMLS:C0233705"]}
{"category": ["biolink:Disease"], "description": "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.", "id": "MONDO:0003737", "name": "Malignant testicular leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular Leydig cell tumor, malignant"], "xref": ["DOID:6021", "GARD:0023641", "MEDGEN:271769", "NCIT:C39942", "UMLS:C1515288"]}
{"category": ["biolink:Disease"], "description": "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.", "id": "MONDO:0003738", "name": "Selective ige deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["selective IgE immunodeficiency"], "xref": ["DOID:6024", "GARD:0023642", "ICD9:279.03", "MEDGEN:96020", "NCIT:C27143", "SCTID:234540007", "UMLS:C0398694"]}
{"category": ["biolink:Disease"], "description": "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.", "id": "MONDO:0003739", "name": "Selective immunoglobulin deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["selective Immunoglobulin isotype deficiency"], "xref": ["DOID:6025", "GARD:0023643", "MEDGEN:235584", "NCIT:C27870", "UMLS:C1335942"]}
{"category": ["biolink:Disease"], "description": "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.", "id": "MONDO:0003740", "name": "Aids phobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AIDS phobia"], "xref": ["DOID:603", "MEDGEN:167692", "NCIT:C35614", "UMLS:C0853870"]}
{"category": ["biolink:Disease"], "description": "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.", "id": "MONDO:0003741", "name": "Juvenile type testicular granulosa cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:6032", "GARD:0023644", "MEDGEN:308257", "NCIT:C39947", "UMLS:C1515285"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0003742", "name": "Heart fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cardiac fibrosarcoma", "cardiac fibrosarcoma", "fibrosarcoma of heart", "fibrosarcoma of the heart", "heart fibrosarcoma", "heart fibrosarcoma (disease)"], "xref": ["DOID:6033", "GARD:0023645", "MEDGEN:232022", "NCIT:C5361", "UMLS:C1332844"]}
{"category": ["biolink:Disease"], "description": "A malignant hemangiopericytoma arising in the heart.", "id": "MONDO:0003743", "name": "Heart malignant hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["heart hemangiopericytoma", "heart spindle cell tumor", "heart spindle cell tumour", "malignant Cardiac hemangiopericytoma", "malignant heart hemangiopericytoma", "malignant hemangiopericytoma of heart", "malignant hemangiopericytoma of the heart"], "xref": ["DOID:6034", "GARD:0027645", "MEDGEN:233144", "NCIT:C5365", "UMLS:C1334567"]}
{"category": ["biolink:Disease"], "description": "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.", "id": "MONDO:0003744", "name": "Spindle cell intraocular melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spindle cell melanoma of the uvea", "spindle cell melanoma of uvea", "spindle cell uveal melanoma", "uveal spindle cell melanoma"], "xref": ["DOID:6037", "GARD:0023646", "MEDGEN:76015", "NCIT:C7986", "UMLS:C0279687"]}
{"category": ["biolink:Disease"], "description": "A spindle cell melanoma that involves the optic choroid.", "id": "MONDO:0003745", "name": "Choroid spindle cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["optic choroid spindle cell melanoma", "spindle cell melanoma of choroid", "spindle cell melanoma of optic choroid", "spindle cell melanoma of the choroid"], "xref": ["DOID:6041", "GARD:0023647", "MEDGEN:272477", "NCIT:C6099", "UMLS:C1333027"]}
{"category": ["biolink:Disease"], "description": "A spindle cell melanoma that involves the ciliary body.", "id": "MONDO:0003746", "name": "Ciliary body spindle cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliary body spindle cell melanoma", "spindle cell melanoma of ciliary body", "spindle cell melanoma of the ciliary body"], "xref": ["DOID:6043", "GARD:0023648", "MEDGEN:232367", "NCIT:C6117", "UMLS:C1333052"]}
{"category": ["biolink:Disease"], "description": "A glomus tumor characterized by huge vascular channel formations.", "id": "MONDO:0003747", "name": "Telangiectatic glomangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["telangiectatic glomangioma"], "xref": ["DOID:6048", "GARD:0023649", "MEDGEN:236998", "NCIT:C5345", "UMLS:C1336699"]}
{"category": ["biolink:Disease"], "description": "An overwhelming, irrational, and persistent fear of traveling in an aircraft.", "id": "MONDO:0003748", "name": "Flying phobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:605", "EFO:1001889", "MEDGEN:83369", "NCIT:C35413", "UMLS:C0344318"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.", "id": "MONDO:0003749", "name": "Esophageal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of esophagus", "disease of oesophagus", "disease or disorder of esophagus", "disease or disorder of oesophagus", "disorder of esophagus", "disorder of oesophagus", "esophageal disorder", "esophagus disease", "esophagus disease or disorder", "oesophagus disease", "oesophagus disease or disorder"], "xref": ["DOID:6050", "EFO:0009544", "ICD9:530", "ICD9:530.2", "ICD9:530.20", "ICD9:530.9", "MEDGEN:8693", "MESH:D004935", "NCIT:C3027", "SCTID:30811009", "SCTID:37657006", "UMLS:C0014852", "icd11.foundation:1594312948"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor of the central nervous system occurring in children.", "id": "MONDO:0003750", "name": "Childhood central nervous system germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system childhood germ cell tumor", "central nervous system paediatric germ cell cancer", "central nervous system pediatric germ cell cancer", "childhood CNS germ cell neoplasm", "childhood CNS germ cell tumor", "childhood CNS germ cell tumour", "childhood central nervous system germ cell neoplasm", "childhood central nervous system germ cell tumor", "childhood germ cell neoplasm of CNS", "childhood germ cell neoplasm of central nervous system", "childhood germ cell neoplasm of the CNS", "childhood germ cell neoplasm of the central nervous system", "childhood germ cell tumor of CNS", "childhood germ cell tumor of central nervous system", "childhood germ cell tumor of the CNS", "childhood germ cell tumor of the central nervous system", "childhood germ cell tumour of CNS", "childhood germ cell tumour of central nervous system", "childhood germ cell tumour of the CNS", "childhood germ cell tumour of the central nervous system", "paediatric CNS germ cell neoplasm", "paediatric CNS germ cell tumour", "paediatric central nervous system germ cell neoplasm", "paediatric central nervous system germ cell tumour", "paediatric germ cell neoplasm of central nervous system", "paediatric germ cell neoplasm of the CNS", "paediatric germ cell neoplasm of the central nervous system", "paediatric germ cell tumour of CNS", "paediatric germ cell tumour of central nervous system", "paediatric germ cell tumour of the CNS", "paediatric germ cell tumour of the central nervous system", "pediatric CNS germ cell neoplasm", "pediatric CNS germ cell tumor", "pediatric central nervous system germ cell neoplasm", "pediatric central nervous system germ cell tumor", "pediatric germ cell neoplasm of CNS", "pediatric germ cell neoplasm of central nervous system", "pediatric germ cell neoplasm of the CNS", "pediatric germ cell neoplasm of the central nervous system", "pediatric germ cell tumor of CNS", "pediatric germ cell tumor of central nervous system", "pediatric germ cell tumor of the CNS", "pediatric germ cell tumor of the central nervous system"], "xref": ["DOID:6052", "GARD:0023650", "MEDGEN:124505", "NCIT:C6205", "UMLS:C0278754"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that occurs during childhood.", "id": "MONDO:0003751", "name": "Childhood germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["childhood germ cell neoplasm", "childhood germ cell tumor", "paediatric germ cell tumour", "pediatric germ cell neoplasm", "pediatric germ cell tumor"], "xref": ["DOID:6053", "GARD:0023651", "MEDGEN:75907", "NCIT:C7928", "UMLS:C0279014"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.", "id": "MONDO:0003752", "name": "Frontal sinus schneiderian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schneiderian papilloma of the frontal sinus", "frontal sinus Schneiderian papilloma"], "xref": ["DOID:6054", "GARD:0023652", "MEDGEN:234273", "NCIT:C6837", "UMLS:C1333645"]}
{"category": ["biolink:Disease"], "description": "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.", "id": "MONDO:0003753", "name": "Nasal vestibule squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nasal vestibule papilloma", "nasal vestibule squamous papilloma", "papilloma of nasal vestibule", "papilloma of the nasal vestibule", "squamous papilloma of nasal vestibule", "squamous papilloma of the nasal vestibule"], "xref": ["DOID:6059", "ICD9:478.19", "MEDGEN:90945", "NCIT:C4369", "SCTID:232364006", "UMLS:C0339826"]}
{"category": ["biolink:Disease"], "description": "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.", "id": "MONDO:0003754", "name": "Brown-sequard syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:606", "EFO:1001279", "GARD:0027646", "ICD10CM:G83.81", "MEDGEN:69225", "MESH:D018437", "NCIT:C84601", "SCTID:27982003", "UMLS:C0242644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003755", "name": "Urinary tract non-invasive transitional cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-invasive transitional cell neoplasm of the urinary tract", "non-invasive urothelial neoplasm"], "xref": ["DOID:6065", "MEDGEN:273592", "NCIT:C39854", "UMLS:C1518361"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.", "id": "MONDO:0003756", "name": "Ovarian mucinous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mucinous neoplasm of ovary", "mucinous neoplasm of the ovary", "mucinous tumor of ovary", "mucinous tumor of the ovary", "mucinous tumour of ovary", "mucinous tumour of the ovary", "ovarian mucinous neoplasm", "ovarian mucinous tumor", "ovarian mucinous tumour"], "xref": ["DOID:6067", "MEDGEN:235419", "NCIT:C5242", "UMLS:C1335168"]}
{"category": ["biolink:Disease"], "description": "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.", "id": "MONDO:0003757", "name": "Paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:607", "EFO:0009679", "ICD10CM:G82.2", "ICD9:344.1", "MEDGEN:45323", "MESH:D010264", "NCIT:C50687", "SCTID:60389000", "UMLS:C0030486", "icd11.foundation:1212533558"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the testis during childhood.", "id": "MONDO:0003758", "name": "Childhood testicular germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood testicular germ cell neoplasm", "childhood testicular germ cell tumor", "pediatric testicular germ cell neoplasm", "pediatric testicular germ cell tumor", "testicular germ cell tumor of childhood", "testicular germ cell tumour of childhood"], "xref": ["DOID:6082", "GARD:0023653", "MEDGEN:208758", "NCIT:C6552", "UMLS:C0796663"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the ovary and occurs in children.", "id": "MONDO:0003759", "name": "Childhood ovarian yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood ovarian endodermal sinus neoplasm", "childhood ovarian yolk sac tumor", "ovary childhood endodermal sinus tumor", "ovary childhood endodermal sinus tumour", "pediatric ovarian yolk Sac tumor"], "xref": ["DOID:6083", "GARD:0023654", "MEDGEN:234136", "NANDO:2200069", "NCIT:C6551", "UMLS:C1332993"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the ovary and occurs in children.", "id": "MONDO:0003760", "name": "Pediatric ovarian germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood ovarian germ cell neoplasm", "childhood ovarian germ cell tumor", "childhood ovarian germ cell tumour", "ovarian germ cell tumor of childhood", "ovarian germ cell tumour of childhood", "pediatric ovarian germ cell neoplasm", "pediatric ovarian germ cell tumor"], "xref": ["DOID:6084", "GARD:0023655", "MEDGEN:162990", "NCIT:C8588", "UMLS:C0796664"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from leptomeningeal melanocytes.", "id": "MONDO:0003761", "name": "Leptomeningeal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leptomeningeal melanoma", "leptomeninx melanoma", "leptomeninx melanoma (disease)", "malignant melanoma of meninges", "melanoma (disease) of leptomeninx", "melanoma of the leptomeninges", "meningeal melanoma"], "xref": ["DOID:6085", "GARD:0023656", "NCIT:C5317", "SCTID:277530005"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant tumor involving the leptomeninges.", "id": "MONDO:0003762", "name": "Malignant leptomeningeal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cancer of leptomeninx", "leptomeninx cancer", "malignant leptomeningeal neoplasm", "malignant leptomeningeal tumor", "malignant leptomeninx neoplasm", "malignant neoplasm of leptomeninx", "malignant tumor of leptomeninges"], "xref": ["DOID:6086", "GARD:0023657", "MEDGEN:233153", "NCIT:C8506", "UMLS:C1334596"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.", "id": "MONDO:0003763", "name": "Acute stress disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute stress reaction"], "xref": ["DOID:6088", "EFO:0005223", "ICD10CM:F43.0", "ICD9:308.3", "ICD9:308.9", "MEDGEN:116022", "MESH:D000068099", "NCIT:C92621", "SCTID:67195008", "UMLS:C0236816", "Wikipedia:Acute_stress_reaction"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.", "id": "MONDO:0003764", "name": "Pediatric leptomeningeal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood leptomeningeal melanoma", "childhood meningeal melanoma", "paediatric meningeal melanoma", "pediatric meningeal melanoma"], "xref": ["DOID:6089", "GARD:0023658", "MEDGEN:232061", "NCIT:C5318", "UMLS:C1332976"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.", "id": "MONDO:0003765", "name": "Adult leptomeningeal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adult leptomeningeal melanoma", "adult meningeal melanoma"], "xref": ["DOID:6090", "GARD:0023659", "MEDGEN:231042", "NCIT:C5319", "UMLS:C1332204"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a dorsal plus ventral thalamus.", "id": "MONDO:0003766", "name": "Thalamic cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of dorsal plus ventral thalamus", "dorsal plus ventral thalamus cancer", "malignant dorsal plus ventral thalamus neoplasm", "malignant neoplasm of dorsal plus ventral thalamus", "malignant neoplasm of thalamus", "malignant neoplasm of the thalamus", "malignant thalamic neoplasm", "malignant thalamic neoplasms", "malignant thalamic tumor", "malignant thalamic tumors", "malignant thalamic tumour", "malignant thalamic tumours", "malignant thalamus neoplasm", "malignant thalamus neoplasms", "malignant thalamus tumor", "malignant thalamus tumors", "malignant thalamus tumour", "malignant thalamus tumours", "malignant tumor of thalamus", "malignant tumor of the thalamus", "malignant tumour of thalamus", "malignant tumour of the thalamus", "tumour of thalamus"], "xref": ["DOID:6098", "GARD:0027647", "MEDGEN:83429", "NCIT:C4576", "SCTID:188287005", "UMLS:C0346902", "icd11.foundation:610018988"]}
{"category": ["biolink:Disease"], "description": "A disease involving the mitral valve.", "id": "MONDO:0003767", "name": "Mitral valve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of mitral valve", "disease or disorder of mitral valve", "disorder of mitral valve", "mitral valve disease", "mitral valve disease or disorder", "mitral valve disorder"], "xref": ["DOID:61", "EFO:0009557", "ICD9:394", "ICD9:394.1", "ICD9:394.9", "ICD9:424.0", "MEDGEN:7669", "NCIT:C78446", "SCTID:11851006", "UMLS:C0026265", "icd11.foundation:1997348476"]}
{"category": ["biolink:Disease"], "description": "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.", "id": "MONDO:0003768", "name": "Signet ring cell variant cervical mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cervical mucinous adenocarcinoma, signet Ring cell type", "cervical mucinous adenocarcinoma, signet Ring cell variant"], "xref": ["DOID:6101", "GARD:0023660", "MEDGEN:273126", "NCIT:C40205", "ONCOTREE:SCEMU", "UMLS:C1516424"]}
{"category": ["biolink:Disease"], "description": "Gastritis resulting from herpes virus.", "id": "MONDO:0003769", "name": "Herpetic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Herpesviridae caused viral gastritis", "Herpesviridae viral gastritis"], "xref": ["DOID:6102", "MEDGEN:272714", "NCIT:C27341", "UMLS:C1333996"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the meninges of the thoracic region of the spinal cord.", "id": "MONDO:0003770", "name": "Thoracic spinal canal and spinal cord meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of thoracic spinal canal and spinal cord", "thoracic intraspinal meningioma"], "xref": ["DOID:6103", "GARD:0023661", "MEDGEN:234424", "NCIT:C5297", "UMLS:C1336738"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the jugular foramen.", "id": "MONDO:0003771", "name": "Jugular foramen meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["jugular foramen meningioma (disease)", "meningioma (disease) of jugular foramen", "meningioma of jugular Foramen", "meningioma of the jugular Foramen"], "xref": ["DOID:6110", "GARD:0023662", "MEDGEN:233586", "NCIT:C5293", "UMLS:C1334298"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the cerebral hemispheres.", "id": "MONDO:0003772", "name": "Cerebral meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral hemispheric meningioma", "meningioma (disease) of telencephalon", "meningioma of cerebral hemispheres", "meningioma of cerebrum", "meningioma of the cerebral hemispheres", "meningioma of the cerebrum", "telencephalon meningioma (disease)"], "xref": ["DOID:6112", "GARD:0023663", "MEDGEN:154239", "NCIT:C4807", "SCTID:189164002", "UMLS:C0542564"]}
{"category": ["biolink:Disease"], "description": "A cystic meningioma that grows within the cerebral hemispheres.", "id": "MONDO:0003773", "name": "Intracerebral cystic meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6113", "GARD:0023664", "MEDGEN:272767", "NCIT:C5269", "UMLS:C1334236"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the cerebral sulcus.", "id": "MONDO:0003774", "name": "Cerebral convexity meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral hemispheric convexity meningioma"], "xref": ["DOID:6114", "GARD:0023665", "MEDGEN:155844", "NCIT:C4959", "UMLS:C0751303"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the lateral ventricle of the brain.", "id": "MONDO:0003775", "name": "Lateral ventricle meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of telencephalic ventricle", "meningioma of lateral ventricle", "meningioma of the lateral ventricle", "telencephalic ventricle meningioma (disease)"], "xref": ["DOID:6115", "GARD:0023666", "MEDGEN:232693", "NCIT:C5302", "UMLS:C1334380"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.", "id": "MONDO:0003776", "name": "Renal pelvis inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inverted papilloma of kidney pelvis", "inverted papilloma of renal pelvis", "inverted papilloma of the kidney pelvis", "inverted papilloma of the renal pelvis", "kidney pelvis inverted papilloma", "renal pelvis inverted papilloma"], "xref": ["DOID:6118", "MEDGEN:277591", "NCIT:C6187", "UMLS:C1335751"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.", "id": "MONDO:0003777", "name": "Renal pelvis urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["renal pelvis urothelial papilloma"], "xref": ["DOID:6119", "MEDGEN:271479", "NCIT:C4528", "UMLS:C1514844"]}
{"category": ["biolink:Disease"], "description": "A disorder in which the immune system is unable to mount an adequate immune response.", "id": "MONDO:0003778", "name": "Inborn error of immunity", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["IEI", "inborn errors of immunity", "primary immunodeficiency disease"], "xref": ["DOID:612", "GARD:0019813", "MEDGEN:585013", "MESH:D007153", "NANDO:1200320", "NANDO:2100204", "Orphanet:101997", "SCTID:58606001", "UMLS:C0398686"]}
{"category": ["biolink:Disease"], "description": "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.", "id": "MONDO:0003780", "name": "T-cell immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["T-cell immunodeficiency", "T-lymphocyte deficiency (finding)", "T-lymphocyte immunodeficiency"], "xref": ["DOID:613", "GARD:0005107", "MEDGEN:226894", "NCIT:C27145", "SCTID:402792003", "UMLS:C1274233"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the bronchi.", "id": "MONDO:0003781", "name": "Bronchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchial infection", "bronchus inflammation", "inflammation of bronchus"], "xref": ["CSP:2596-1500", "DOID:6132", "EFO:0009661", "ICD9:466.0", "ICD9:490", "ICD9:491", "MEDGEN:2736", "MESH:D001991", "NCIT:C2911", "SCTID:32398004", "UMLS:C0006277", "icd11.foundation:11753425"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.", "id": "MONDO:0003782", "name": "Uterine corpus epithelioid leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus epithelioid leiomyosarcoma", "epithelioid leiomyosarcoma of body of uterus", "uterine corpus epithelioid leiomyosarcoma"], "xref": ["DOID:6139", "GARD:0023667", "MEDGEN:274363", "NCIT:C40174", "ONCOTREE:UELMS", "UMLS:C1519851"]}
{"category": ["biolink:Disease"], "description": "Reduction in the number of lymphocytes.", "id": "MONDO:0003783", "name": "Lymphopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lymphocytopenia", "lymphopenia", "lymphopenia (disease)"], "xref": ["DOID:614", "HP:0001888", "ICD10CM:D72.810", "ICD9:288.51", "ICD9:288.8", "MEDGEN:7418", "MESH:D008231", "SCTID:48813009", "UMLS:C0024312", "icd11.foundation:298296736"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the nasal cavity.", "id": "MONDO:0003784", "name": "Nasal cavity carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of nasal cavity", "carcinoma in situ of the nasal cavity", "nasal cavity carcinoma in situ", "nasal cavity in situ carcinoma", "stage 0 carcinoma of nasal cavity", "stage 0 carcinoma of the nasal cavity", "stage 0 nasal cavity cancer", "stage 0 nasal cavity cancer aJCC v6, v7, and v8", "stage 0 nasal cavity carcinoma", "stage 0 nasal cavity carcinoma aJCC v6", "stage 0 nasal cavity carcinoma aJCC v7", "stage 0 nasal cavity carcinoma aJCC v8"], "xref": ["DOID:6148", "ICD9:231.8", "MEDGEN:138077", "NCIT:C4589", "SCTID:92663007", "UMLS:C0347095"]}
{"category": ["biolink:Disease"], "description": "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.", "id": "MONDO:0003785", "name": "Leukopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["White blood cell decreased", "leukocytopenia"], "xref": ["DOID:615", "ICD9:288.50", "MEDGEN:6073", "MESH:D007970", "NCIT:C26816", "SCTID:84828003", "UMLS:C0023530"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma that arises from the testis during childhood.", "id": "MONDO:0003786", "name": "Childhood testicular choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood choriocarcinoma of testis", "childhood choriocarcinoma of the testis", "childhood testicular choriocarcinoma", "choriocarcinoma of testis of childhood", "paediatric choriocarcinoma of testis", "paediatric choriocarcinoma of the testis", "paediatric testicular choriocarcinoma", "pediatric choriocarcinoma of testis", "pediatric choriocarcinoma of the testis", "pediatric testicular choriocarcinoma"], "xref": ["DOID:6160", "GARD:0023670", "MEDGEN:272469", "NCIT:C6544", "UMLS:C1333006"]}
{"category": ["biolink:Disease"], "description": "A malignant mixed germ cell neoplasm that arises from the testis during childhood.", "id": "MONDO:0003787", "name": "Childhood testicular mixed germ cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood mixed testicular germ cell cancer", "mixed testicular germ cell cancer of childhood", "paediatric mixed testicular germ cell cancer", "pediatric mixed testicular germ cell cancer"], "xref": ["DOID:6161", "GARD:0023671", "MEDGEN:272471", "NCIT:C6542", "UMLS:C1333009"]}
{"category": ["biolink:Disease"], "description": "An embryonal carcinoma that arises from the testis during childhood.", "id": "MONDO:0003788", "name": "Childhood embryonal testis carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood embryonal carcinoma of testis", "childhood embryonal carcinoma of the testis", "childhood testicular embryonal carcinoma", "paediatric embryonal carcinoma of testis", "paediatric embryonal carcinoma of the testis", "paediatric testicular embryonal carcinoma", "pediatric embryonal carcinoma of testis", "pediatric embryonal carcinoma of the testis", "pediatric testicular embryonal carcinoma", "testicular embryonal carcinoma of childhood"], "xref": ["DOID:6162", "GARD:0023672", "MEDGEN:272470", "NCIT:C6545", "UMLS:C1333007"]}
{"category": ["biolink:Disease"], "description": "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.", "id": "MONDO:0003789", "name": "Hereditary papillary renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial renal papillary carcinoma", "hereditary kidney papillary carcinoma", "hereditary papillary carcinoma of kidney", "hereditary papillary carcinoma of the kidney", "hereditary papillary renal carcinoma", "hereditary papillary renal cell cancer", "hereditary papillary renal cell carcinoma", "renal cell carcinoma, papillary", "renal cell carcinoma, papillary, 1, familial and somatic"], "xref": ["DOID:6163", "GARD:0013157", "MEDGEN:163907", "NCIT:C9222", "OMIM:605074", "Orphanet:47044", "SCTID:715561008", "UMLS:C0879257"]}
{"category": ["biolink:Disease"], "description": "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.", "id": "MONDO:0003790", "name": "Prostatic urethra urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostatic urethra urothelial carcinoma"], "xref": ["DOID:6166", "GARD:0023673", "MEDGEN:271406", "NCIT:C39900", "UMLS:C1514522"]}
{"category": ["biolink:Disease"], "description": "A male urethral cancer that involves the prostatic urethra.", "id": "MONDO:0003791", "name": "Prostatic urethral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["male urethral cancer of prostatic urethra", "prostatic urethra male urethral cancer", "prostatic urethral malignant neoplasm"], "xref": ["DOID:6167", "GARD:0027648", "MEDGEN:308065", "NCIT:C39870", "UMLS:C1514523"]}
{"category": ["biolink:Disease"], "description": "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.", "id": "MONDO:0003792", "name": "Ovarian carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMMT of the ovary", "carcinosarcoma of ovary", "carcinosarcoma of the ovary", "malignant mixed mesodermal Mullerian neoplasm of ovary", "malignant mixed mesodermal Mullerian neoplasm of the ovary", "malignant mixed mesodermal Mullerian tumor of ovary", "malignant mixed mesodermal Mullerian tumor of the ovary", "malignant mixed mesodermal Mullerian tumour of ovary", "malignant mixed mesodermal Mullerian tumour of the ovary", "malignant mixed mesodermal Müllerian neoplasm of ovary", "malignant mixed mesodermal Müllerian neoplasm of the ovary", "malignant mixed mesodermal Müllerian tumor of ovary", "malignant mixed mesodermal Müllerian tumor of the ovary", "malignant mixed mesodermal Müllerian tumour of ovary", "malignant mixed mesodermal Müllerian tumour of the ovary", "ovarian MMMT", "ovarian carcinosarcoma", "ovarian malignant mesodermal (Mullerian) mixed tumor", "ovarian malignant mesodermal (Mullerian) mixed tumour", "ovarian malignant mesodermal (Müllerian) mixed tumor", "ovarian malignant mesodermal (Müllerian) mixed tumour", "ovarian malignant mesodermal (mullerian) mixed tumor", "ovarian malignant mesodermal (mullerian) mixed tumour", "ovarian malignant mixed Mullerian neoplasm", "ovarian malignant mixed Mullerian tumor", "ovarian malignant mixed Mullerian tumour", "ovarian malignant mixed Müllerian neoplasm", "ovarian malignant mixed Müllerian tumor", "ovarian malignant mixed Müllerian tumour", "ovarian malignant mixed epithelial mesenchymal tumor", "ovarian malignant mixed epithelial mesenchymal tumour", "ovarian malignant mixed mesodermal (Mullerian) tumor", "ovarian malignant mixed mesodermal (Mullerian) tumour", "ovarian malignant mixed mesodermal (Müllerian) tumor", "ovarian malignant mixed mesodermal (Müllerian) tumour", "ovarian malignant mixed mesodermal Mullerian neoplasm", "ovarian malignant mixed mesodermal Mullerian tumor", "ovarian malignant mixed mesodermal Mullerian tumour", "ovarian malignant mixed mesodermal Müllerian neoplasm", "ovarian malignant mixed mesodermal Müllerian tumor", "ovarian malignant mixed mesodermal Müllerian tumour", "ovary carcinosarcoma"], "xref": ["DOID:6170", "EFO:1000412", "GARD:0007296", "MEDGEN:140705", "NCIT:C9192", "ONCOTREE:OCS", "Orphanet:213512", "SCTID:702368000", "UMLS:C0392998"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.", "id": "MONDO:0003795", "name": "Ovarian small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCCO", "ovarian small cell NEC", "ovarian small cell cancer", "ovarian small cell carcinoma", "ovarian small cell neuroendocrine carcinoma", "ovary small cell carcinoma", "small cell carcinoma of ovary", "small cell carcinoma of the ovary", "small cell ovarian carcinoma"], "xref": ["DOID:6179", "EFO:1000431", "GARD:0010411", "MEDGEN:389177", "NCIT:C27390", "ONCOTREE:SCCO", "Orphanet:370396", "UMLS:C2212006"]}
{"category": ["biolink:Disease"], "description": "A Kaposi sarcoma arising from the rectum.", "id": "MONDO:0003796", "name": "Rectum kaposi sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Kaposi's sarcoma (disease) of rectum", "Kaposi's sarcoma of rectum", "Kaposi's sarcoma of the rectum", "rectal Kaposi sarcoma", "rectal Kaposi's sarcoma", "rectum Kaposi's sarcoma (disease)"], "xref": ["DOID:6190", "GARD:0023674", "MEDGEN:277575", "NCIT:C5550", "UMLS:C1335681"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the conjunctiva of the eye.", "id": "MONDO:0003799", "name": "Conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conjunctiva inflammation", "conjunctivitis", "conjunctivitis (disease)", "inflammation of conjunctiva", "pink eye"], "xref": ["DOID:6195", "EFO:0009450", "HP:0000509", "ICD10CM:H10", "ICD10WHO:H10", "ICD9:372.30", "ICD9:372.39", "MEDGEN:1093", "MESH:D003231", "NCIT:C34504", "SCTID:9826008", "UMLS:C0009763", "icd11.foundation:831696556"]}
{"category": ["biolink:Disease"], "description": "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.", "id": "MONDO:0003800", "name": "Conventional malignant hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["conventional malignant hemangiopericytoma"], "xref": ["DOID:6197", "GARD:0023675", "MEDGEN:232395", "NCIT:C9425", "UMLS:C1333158"]}
{"category": ["biolink:Disease"], "description": "A squamous cell intraepithelial neoplasia that involves the cornea.", "id": "MONDO:0003801", "name": "Corneal intraepithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cornea intraepithelial neoplasia", "cornea squamous cell intraepithelial neoplasia", "corneal intraepithelial neoplasia", "intraepithelial neoplasia of cornea", "intraepithelial neoplasia of the cornea"], "xref": ["DOID:6198", "MEDGEN:232396", "NCIT:C6093", "SCTID:420835009", "UMLS:C1333159"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the cornea.", "id": "MONDO:0003802", "name": "Cornea cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of cornea", "cornea cancer", "malignant cornea neoplasm", "malignant cornea tumor", "malignant cornea tumour", "malignant corneal neoplasm", "malignant corneal tumor", "malignant corneal tumour", "malignant neoplasm of cornea", "malignant neoplasm of cornea (primary)", "malignant neoplasm of the cornea", "malignant tumor of cornea", "malignant tumor of the cornea", "malignant tumour of cornea", "malignant tumour of the cornea"], "xref": ["DOID:6199", "ICD10CM:C69.1", "ICD9:190.4", "MEDGEN:102282", "NCIT:C3565", "SCTID:363464006", "UMLS:C0153629", "icd11.foundation:477636850"]}
{"category": ["biolink:Disease"], "description": "A disease involving the aortic valve.", "id": "MONDO:0003803", "name": "Aortic valve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aortic valve disease", "aortic valve disease or disorder", "aortic valve disorder", "disease of aortic valve", "disease or disorder of aortic valve", "disorder of aortic valve"], "xref": ["DOID:62", "EFO:0009531", "ICD9:395", "ICD9:424.1", "MEDGEN:226776", "NCIT:C78650", "UMLS:C1260873", "icd11.foundation:1609206873"]}
{"category": ["biolink:Disease"], "description": "A rare neoplasm of mesothelial origin that arises from the pericardium.", "id": "MONDO:0003805", "name": "Malignant pericardial mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant mesothelioma (disease) of pericardium", "malignant mesothelioma of pericardium", "malignant mesothelioma of the pericardium", "pericardial malignant mesothelioma", "pericardium malignant mesothelioma (disease)", "pericardium mesothelioma"], "xref": ["DOID:6201", "GARD:0023676", "HP:0100004", "MEDGEN:233322", "NCIT:C7631", "Orphanet:685004", "SCTID:109383000", "UMLS:C1335381"]}
{"category": ["biolink:Disease"], "description": "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.", "id": "MONDO:0003806", "name": "Thyroid hyalinizing trabecular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PLAT", "hyalinizing trabecular adenoma of the thyroid", "hyalinizing trabecular adenoma of thyroid", "hyalinizing trabecular tumor", "hyalinizing trabecular tumour", "paraganglioma-like adenoma", "thyroid gland hyalinizing trabecular tumor", "thyroid gland hyalinizing trabecular tumour", "thyroid hyalinizing trabecular adenoma"], "xref": ["DOID:6203", "GARD:0023677", "ICDO:8336/0", "MEDGEN:277820", "NCIT:C6846", "ONCOTREE:HTAT", "UMLS:C1336751"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the mediastinum.", "id": "MONDO:0003808", "name": "Mediastinal extraskeletal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal extraskeletal osteosarcoma", "mediastinal osteogenic sarcoma", "mediastinal osteosarcoma", "mediastinum osteosarcoma (disease)", "osteogenic sarcoma of mediastinum", "osteogenic sarcoma of the mediastinum", "osteosarcoma of mediastinum", "osteosarcoma of the mediastinum"], "xref": ["DOID:6208", "GARD:0023678", "MEDGEN:235314", "NCIT:C6615", "UMLS:C1334675"]}
{"category": ["biolink:Disease"], "description": "A malignant hemangiopericytoma arising in the mediastinum.", "id": "MONDO:0003809", "name": "Malignant mediastinum hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant hemangiopericytoma of mediastinum", "malignant hemangiopericytoma of the mediastinum", "malignant mediastinal hemangiopericytoma", "mediastinum hemangiopericytoma", "mediastinum spindle cell tumor", "mediastinum spindle cell tumour"], "xref": ["DOID:6209", "GARD:0023679", "MEDGEN:235298", "NCIT:C6608", "UMLS:C1334598"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.", "id": "MONDO:0003810", "name": "Bladder diffuse clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder diffuse clear cell adenocarcinoma"], "xref": ["DOID:6210", "MEDGEN:267058", "NCIT:C39849", "UMLS:C1511187"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.", "id": "MONDO:0003811", "name": "Ovarian seromucinous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed epithelial neoplasm of ovary", "mixed epithelial neoplasm of the ovary", "mixed epithelial tumor of the ovary", "mixed epithelial tumour of the ovary", "ovarian Seromucinous tumor", "ovarian Seromucinous tumour", "ovarian mixed epithelial neoplasm"], "xref": ["DOID:6211", "MEDGEN:83409", "NCIT:C4508", "SCTID:254855000", "UMLS:C0346166"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.", "id": "MONDO:0003812", "name": "Ovarian endometrial cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endometrioid tumor of ovary", "endometrioid tumour of ovary", "malignant ovarian endometrioid tumor", "malignant ovarian endometrioid tumour", "ovary endometrioid tumor", "ovary endometrioid tumour", "ovary female reproductive endometrioid cancer"], "xref": ["DOID:6212", "GARD:0023680", "MEDGEN:276545", "NCIT:C40051", "UMLS:C1518231"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.", "id": "MONDO:0003813", "name": "Ovarian papillary tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian papillary neoplasm", "ovarian papillary tumor", "ovarian papillary tumor (morphologic abnormality)", "ovarian papillary tumour (morphologic abnormality)", "papillary neoplasm of ovary", "papillary neoplasm of the ovary", "papillary tumor of ovary", "papillary tumor of the ovary", "papillary tumour of ovary", "papillary tumour of the ovary"], "xref": ["DOID:6214", "MEDGEN:99195", "NCIT:C8430", "UMLS:C0476121"]}
{"category": ["biolink:Disease"], "description": "A disease involving the articular cartilage of joint.", "id": "MONDO:0003816", "name": "Articular cartilage disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["articular cartilage disorder", "articular cartilage of joint disease", "articular cartilage of joint disease or disorder", "disease of articular cartilage of joint", "disease or disorder of articular cartilage of joint", "disorder of articular cartilage of joint"], "xref": ["DOID:6227", "ICD9:718.0", "ICD9:718.00", "ICD9:718.02", "MEDGEN:510440", "SCTID:53417006", "UMLS:C0158073"]}
{"category": ["biolink:Disease"], "description": "A mature teratoma that arises from the ovary and occurs in children.", "id": "MONDO:0003818", "name": "Childhood mature teratoma of the ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood mature ovarian teratoma", "childhood mature teratoma of ovary", "childhood ovarian mature teratoma", "mature ovarian teratoma of childhood", "paediatric mature ovarian teratoma", "paediatric mature teratoma of ovary", "paediatric mature teratoma of the ovary", "paediatric ovarian mature teratoma", "pediatric mature ovarian teratoma", "pediatric mature teratoma of ovary", "pediatric mature teratoma of the ovary", "pediatric ovarian mature teratoma"], "xref": ["DOID:6229", "GARD:0023681", "MEDGEN:232354", "NCIT:C6548", "UMLS:C1332991"]}
{"category": ["biolink:Disease"], "description": "A mature or immature teratoma that arises from the ovary and occurs in children.", "id": "MONDO:0003819", "name": "Childhood teratoma of the ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood ovarian teratoma", "childhood teratoma of ovary", "childhood teratoma of the ovary", "ovarian teratoma of childhood", "paediatric ovarian teratoma", "paediatric teratoma of ovary", "paediatric teratoma of the ovary", "pediatric ovarian teratoma", "pediatric teratoma of ovary", "pediatric teratoma of the ovary"], "xref": ["DOID:6230", "GARD:0023682", "MEDGEN:272466", "NCIT:C6554", "UMLS:C1332992"]}
{"category": ["biolink:Disease"], "description": "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.", "id": "MONDO:0003820", "name": "Mature ovarian teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mature ovarian teratoma", "mature teratoma of ovary", "ovary mature teratoma"], "xref": ["DOID:6231", "GARD:0023683", "MEDGEN:233672", "NCIT:C8112", "ONCOTREE:OMT", "UMLS:C1334637"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.", "id": "MONDO:0003821", "name": "Ovarian biphasic or triphasic teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian biphasic or triphasic teratoma"], "xref": ["DOID:6232", "GARD:0023684", "MEDGEN:274086", "NCIT:C39992", "UMLS:C1518691"]}
{"category": ["biolink:Disease"], "description": "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.", "id": "MONDO:0003822", "name": "Non-invasive bladder papillary urothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-invasive bladder papillary urothelial neoplasm"], "xref": ["DOID:6239", "MEDGEN:309424", "NCIT:C39831", "UMLS:C1518358"]}
{"category": ["biolink:Disease"], "description": "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.", "id": "MONDO:0003824", "name": "Hereditary kidney oncocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["familial renal oncocytoma", "hereditary kidney oncocytoma", "hereditary renal oncocytoma"], "xref": ["DOID:6244", "MEDGEN:209307", "NCIT:C8960", "UMLS:C0879606"]}
{"category": ["biolink:Disease"], "description": "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.", "id": "MONDO:0003825", "name": "Kidney oncocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["kidney oncocytic neoplasm", "kidney oncocytoma", "oncocytoma of kidney", "oncocytoma of the kidney", "renal epithelial oncocytic neoplasm", "renal epithelial oncocytic tumor", "renal epithelial oncocytic tumour", "renal oncocytoma"], "xref": ["DOID:6245", "MEDGEN:91094", "MESH:C537750", "NCIT:C4526", "ONCOTREE:ROCY", "SCTID:254922006", "UMLS:C0346255"]}
{"category": ["biolink:Disease"], "description": "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.", "id": "MONDO:0003826", "name": "Mediastinum seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal seminoma", "mediastinum seminoma", "seminoma of mediastinum", "seminoma of the mediastinum"], "xref": ["DOID:6249", "GARD:0023685", "MEDGEN:277355", "NCIT:C6812", "UMLS:C1334680"]}
{"category": ["biolink:Disease"], "description": "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.", "id": "MONDO:0003827", "name": "Transient hypogammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:625", "GARD:0023686", "MEDGEN:167815", "NCIT:C27319", "UMLS:C0859960"]}
{"category": ["biolink:Disease"], "description": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.", "id": "MONDO:0003828", "name": "Growth hormone-producing pituitary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Growth hormone producing pituitary gland carcinoma", "Growth hormone-producing pituitary gland carcinoma", "malignant Growth hormone producing neoplasm of pituitary", "malignant Growth hormone producing neoplasm of pituitary gland", "malignant Growth hormone producing neoplasm of the pituitary", "malignant Growth hormone producing neoplasm of the pituitary gland", "malignant Growth hormone producing pituitary gland neoplasm", "malignant Growth hormone producing pituitary gland tumor", "malignant Growth hormone producing pituitary gland tumour", "malignant Growth hormone producing pituitary neoplasm", "malignant Growth hormone producing pituitary tumor", "malignant Growth hormone producing pituitary tumour", "malignant Growth hormone producing tumor", "malignant Growth hormone producing tumor of pituitary", "malignant Growth hormone producing tumor of pituitary gland", "malignant Growth hormone producing tumor of the pituitary", "malignant Growth hormone producing tumor of the pituitary gland", "malignant Growth hormone producing tumour", "malignant Growth hormone producing tumour of pituitary", "malignant Growth hormone producing tumour of pituitary gland", "malignant Growth hormone producing tumour of the pituitary", "malignant Growth hormone producing tumour of the pituitary gland", "malignant Growth hormone secreting neoplasm of pituitary", "malignant Growth hormone secreting neoplasm of pituitary gland", "malignant Growth hormone secreting neoplasm of the pituitary", "malignant Growth hormone secreting neoplasm of the pituitary gland", "malignant Growth hormone secreting pituitary gland neoplasm", "malignant Growth hormone secreting pituitary gland tumor", "malignant Growth hormone secreting pituitary gland tumour", "malignant Growth hormone secreting pituitary neoplasm", "malignant Growth hormone secreting pituitary tumor", "malignant Growth hormone secreting pituitary tumour", "malignant Growth hormone secreting tumor of pituitary", "malignant Growth hormone secreting tumor of pituitary gland", "malignant Growth hormone secreting tumor of the pituitary", "malignant Growth hormone secreting tumor of the pituitary gland", "malignant Growth hormone secreting tumour of pituitary", "malignant Growth hormone secreting tumour of pituitary gland", "malignant Growth hormone secreting tumour of the pituitary", "malignant Growth hormone secreting tumour of the pituitary gland", "malignant Somatotrophinoma of pituitary", "malignant Somatotrophinoma of pituitary gland", "malignant Somatotrophinoma of the pituitary gland", "malignant pituitary Somatotrophinoma", "malignant pituitary gland Somatotrophinoma", "malignant pituitary gland somatotropinoma", "malignant pituitary somatotropinoma", "malignant somatotropinoma of pituitary", "malignant somatotropinoma of pituitary gland", "malignant somatotropinoma of the pituitary", "malignant somatotropinoma of the pituitary gland"], "xref": ["DOID:6256", "GARD:0023687", "MEDGEN:277331", "NCIT:C5963", "UMLS:C1334587"]}
{"category": ["biolink:Disease"], "description": "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.", "id": "MONDO:0003829", "name": "Chromophil adenoma of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chromophil adenoma of the kidney", "papillary adenoma of the kidney", "renal papillary adenoma"], "xref": ["DOID:6257", "MEDGEN:309551", "NCIT:C3687", "UMLS:C1518879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003830", "name": "Type 1 papillary adenoma of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["type 1 papillary adenoma of the kidney", "type 1 renal papillary adenoma"], "xref": ["DOID:6258", "MEDGEN:276906", "NCIT:C39809", "UMLS:C1519706"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003831", "name": "Type 2 papillary adenoma of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["type 2 papillary adenoma of the kidney", "type 2 renal papillary adenoma"], "xref": ["DOID:6259", "MEDGEN:311387", "NCIT:C39810", "UMLS:C1519710"]}
{"category": ["biolink:Disease"], "description": "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.", "id": "MONDO:0003832", "name": "Complement deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["complement activation disease", "complement deficiency", "disorder of complement activation", "immunodeficiency due to a complement cascade component deficiency"], "xref": ["DOID:626", "ICD9:279.8", "MEDGEN:82898", "NANDO:1200364", "NANDO:2200776", "NCIT:C4691", "Orphanet:459345", "SCTID:24743004", "UMLS:C0272242"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the cardia of stomach.", "id": "MONDO:0003834", "name": "Gastric cardia carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of gastric cardia", "cancer of the gastric cardia", "carcinoma of cardia of stomach", "carcinoma of gastric cardia", "carcinoma of the cardia of the stomach", "carcinoma of the gastric cardia", "cardia of stomach carcinoma", "gastric cardia (stomach) cancer", "gastric cardia cancer"], "xref": ["DOID:6270", "EFO:1001252", "GARD:0027649", "MEDGEN:234295", "NCIT:C6794", "UMLS:C1333763"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the cardia of stomach.", "id": "MONDO:0003835", "name": "Gastric cardia adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoma of cardia of stomach", "adenocarcinoma of the cardia of the stomach", "adenocarcinoma of the gastric cardia", "cardia of stomach adenocarcinoma"], "xref": ["DOID:6271", "GARD:0027650", "MEDGEN:232543", "NCIT:C5247", "UMLS:C1333762", "icd11.foundation:323129890"]}
{"category": ["biolink:Disease"], "description": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.", "id": "MONDO:0003836", "name": "Malignant thyroid stimulating hormone producing neoplasm of pituitary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TSH producing pituitary gland carcinoma", "TSH-producing pituitary gland carcinoma", "malignant TSH producing neoplasm of pituitary", "malignant TSH producing neoplasm of pituitary gland", "malignant TSH producing neoplasm of the pituitary", "malignant TSH producing neoplasm of the pituitary gland", "malignant TSH producing pituitary gland neoplasm", "malignant TSH producing pituitary gland tumor", "malignant TSH producing pituitary gland tumour", "malignant TSH producing pituitary neoplasm", "malignant TSH producing pituitary tumor", "malignant TSH producing pituitary tumour", "malignant TSH producing tumor of pituitary", "malignant TSH producing tumor of pituitary gland", "malignant TSH producing tumor of the pituitary", "malignant TSH producing tumor of the pituitary gland", "malignant TSH producing tumour of pituitary", "malignant TSH producing tumour of pituitary gland", "malignant TSH producing tumour of the pituitary", "malignant TSH producing tumour of the pituitary gland", "malignant TSH secreting neoplasm of pituitary", "malignant TSH secreting neoplasm of pituitary gland", "malignant TSH secreting neoplasm of the pituitary", "malignant TSH secreting neoplasm of the pituitary gland", "malignant TSH secreting pituitary gland neoplasm", "malignant TSH secreting pituitary gland tumor", "malignant TSH secreting pituitary gland tumour", "malignant TSH secreting pituitary neoplasm", "malignant TSH secreting pituitary tumor", "malignant TSH secreting pituitary tumour", "malignant TSH secreting tumor of pituitary", "malignant TSH secreting tumor of pituitary gland", "malignant TSH secreting tumor of the pituitary", "malignant TSH secreting tumor of the pituitary gland", "malignant TSH secreting tumour of pituitary", "malignant TSH secreting tumour of pituitary gland", "malignant TSH secreting tumour of the pituitary", "malignant TSH secreting tumour of the pituitary gland", "malignant pituitary gland thyrotropinoma", "malignant pituitary thyrotropinoma", "malignant thyroid stimulating hormone producing neoplasm of pituitary", "malignant thyroid stimulating hormone producing neoplasm of pituitary gland", "malignant thyroid stimulating hormone producing neoplasm of the pituitary", "malignant thyroid stimulating hormone producing neoplasm of the pituitary gland", "malignant thyroid stimulating hormone producing pituitary gland neoplasm", "malignant thyroid stimulating hormone producing pituitary gland tumor", "malignant thyroid stimulating hormone producing pituitary gland tumour", "malignant thyroid stimulating hormone producing pituitary neoplasm", "malignant thyroid stimulating hormone producing pituitary tumor", "malignant thyroid stimulating hormone producing pituitary tumour", "malignant thyroid stimulating hormone producing tumor", "malignant thyroid stimulating hormone producing tumor of pituitary", "malignant thyroid stimulating hormone producing tumor of pituitary gland", "malignant thyroid stimulating hormone producing tumor of the pituitary", "malignant thyroid stimulating hormone producing tumor of the pituitary gland", "malignant thyroid stimulating hormone producing tumour", "malignant thyroid stimulating hormone producing tumour of pituitary", "malignant thyroid stimulating hormone producing tumour of pituitary gland", "malignant thyroid stimulating hormone producing tumour of the pituitary", "malignant thyroid stimulating hormone producing tumour of the pituitary gland", "malignant thyroid stimulating hormone secreting neoplasm of pituitary", "malignant thyroid stimulating hormone secreting neoplasm of pituitary gland", "malignant thyroid stimulating hormone secreting neoplasm of the pituitary", "malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland", "malignant thyroid stimulating hormone secreting pituitary gland neoplasm", "malignant thyroid stimulating hormone secreting pituitary gland tumor", "malignant thyroid stimulating hormone secreting pituitary gland tumour", "malignant thyroid stimulating hormone secreting pituitary neoplasm", "malignant thyroid stimulating hormone secreting pituitary tumor", "malignant thyroid stimulating hormone secreting pituitary tumour", "malignant thyroid stimulating hormone secreting tumor of pituitary", "malignant thyroid stimulating hormone secreting tumor of pituitary gland", "malignant thyroid stimulating hormone secreting tumor of the pituitary", "malignant thyroid stimulating hormone secreting tumor of the pituitary gland", "malignant thyroid stimulating hormone secreting tumour of pituitary", "malignant thyroid stimulating hormone secreting tumour of pituitary gland", "malignant thyroid stimulating hormone secreting tumour of the pituitary", "malignant thyroid stimulating hormone secreting tumour of the pituitary gland", "malignant thyrotropinoma", "malignant thyrotropinoma of pituitary", "malignant thyrotropinoma of pituitary gland", "malignant thyrotropinoma of the pituitary", "malignant thyrotropinoma of the pituitary gland", "thyrotropin producing pituitary gland carcinoma"], "xref": ["DOID:6274", "GARD:0023688", "MEDGEN:277341", "NCIT:C5965", "UMLS:C1334627"]}
{"category": ["biolink:Disease"], "description": "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.", "id": "MONDO:0003837", "name": "Tsh producing pituitary tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TSH-producing pituitary gland tumor"], "xref": ["DOID:6275", "GARD:0023689", "MEDGEN:391700", "NCIT:C7915", "SCTID:254959007", "UMLS:C2362538"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.", "id": "MONDO:0003839", "name": "Ovarian mucinous adenocarcinofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian mucinous adenocarcinofibroma", "ovarian mucinous malignant adenofibroma"], "xref": ["DOID:6278", "GARD:0023690", "ICDO:9015/3", "MEDGEN:384497", "NCIT:C40034", "UMLS:C2212014"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the epicardium of the heart.", "id": "MONDO:0003840", "name": "Epicardium lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epicardial lipoma", "epicardium lipoma", "lipoma of epicardium", "lipoma of the epicardium"], "xref": ["DOID:6284", "GARD:0027651", "MEDGEN:234221", "NCIT:C6742", "UMLS:C1333411"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.", "id": "MONDO:0003841", "name": "Heart lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cardiac lipoma", "heart lipoma", "lipoma of heart", "lipoma of the heart"], "xref": ["DOID:6285", "GARD:0027652", "MEDGEN:272436", "NCIT:C6741", "UMLS:C1332849"]}
{"category": ["biolink:Disease"], "description": "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.", "id": "MONDO:0003842", "name": "Childhood cerebellar astrocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebellum childhood astrocytic tumor", "cerebellum childhood astrocytic tumour", "cerebellum juvenile astrocytoma", "childhood astrocytic tumor of cerebellum", "childhood astrocytic tumour of cerebellum", "childhood astrocytoma of cerebellum", "childhood astrocytoma of the cerebellum", "childhood cerebellar astrocytoma", "paediatric astrocytoma of cerebellum", "paediatric astrocytoma of the cerebellum", "paediatric cerebellar astrocytoma", "pediatric astrocytoma of cerebellum", "pediatric astrocytoma of the cerebellum", "pediatric cerebellar astrocytoma"], "xref": ["DOID:6286", "GARD:0009301", "MEDGEN:124480", "NCIT:C6286", "UMLS:C0278594"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.", "id": "MONDO:0003843", "name": "Cerebral hemisphere lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral hemisphere lipoma", "lipoma of cerebral hemisphere", "lipoma of the cerebral hemisphere"], "xref": ["DOID:6291", "MEDGEN:234111", "NCIT:C6220", "UMLS:C1332907"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.", "id": "MONDO:0003844", "name": "Central nervous system lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CNS lipoma", "central nervous system lipoma", "lipoma of CNS", "lipoma of central nervous system", "lipoma of the CNS", "lipoma of the central nervous system"], "xref": ["DOID:6293", "MEDGEN:272443", "NCIT:C5451", "UMLS:C1332885"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the corpus callosum.", "id": "MONDO:0003845", "name": "Corpus callosum lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["corpus callosum lipoma", "lipoma of corpus callosum", "lipoma of the corpus callosum"], "xref": ["DOID:6294", "MEDGEN:272510", "NCIT:C5438", "UMLS:C1333160"]}
{"category": ["biolink:Disease"], "description": "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.", "id": "MONDO:0003846", "name": "Viral esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Viruses caused esophagitis (disease)", "Viruses esophagitis (disease)", "viral esophagitis"], "xref": ["DOID:6297", "MEDGEN:87414", "NCIT:C27108", "SCTID:235603003", "UMLS:C0341110"]}
{"category": ["biolink:Disease"], "description": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.", "id": "MONDO:0003847", "name": "Hereditary disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease"], "xref": ["DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247"]}
{"category": ["biolink:Disease"], "description": "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.", "id": "MONDO:0003848", "name": "Ectopic thymus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ectopic thymus"], "xref": ["DOID:6307", "GARD:0023691", "MEDGEN:232148", "NCIT:C27804", "UMLS:C1333375"]}
{"category": ["biolink:Disease"], "description": "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.", "id": "MONDO:0003849", "name": "Clivus chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chordoma (disease) of clivus of occipital bone", "chordoma of clivus", "chordoma of the clivus", "clival chordoma", "clivus of occipital bone chordoma (disease)"], "xref": ["DOID:6312", "GARD:0023692", "ICD9:170.0", "MEDGEN:232372", "NCIT:C5412", "SCTID:446939001", "UMLS:C1333071"]}
{"category": ["biolink:Disease"], "description": "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.", "id": "MONDO:0003850", "name": "Clivus chondroid chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chondroid chordoma of clivus", "chondroid chordoma of clivus of occipital bone", "chondroid chordoma of the clivus", "clivus of occipital bone chondroid chordoma"], "xref": ["DOID:6313", "GARD:0023693", "MEDGEN:232373", "NCIT:C5426", "UMLS:C1333072"]}
{"category": ["biolink:Disease"], "description": "A rare type of teratoma that arises from the ovary and resembles a malformed fetus.", "id": "MONDO:0003851", "name": "Ovarian fetiform teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["homunculus", "ovarian fetiform teratoma"], "xref": ["DOID:6314", "GARD:0023694", "MEDGEN:276666", "NCIT:C39996", "UMLS:C1518715"]}
{"category": ["biolink:Disease"], "description": "A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.", "id": "MONDO:0003852", "name": "Ovarian solid teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6315", "GARD:0023695", "MEDGEN:233810", "NCIT:C7285", "UMLS:C1335181"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the major vestibular gland.", "id": "MONDO:0003853", "name": "Bartholin gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin gland adenocarcinoma", "adenocarcinoma of the Bartholin's gland", "major vestibular gland adenocarcinoma"], "xref": ["DOID:6316", "GARD:0023696", "MEDGEN:116035", "NCIT:C7719", "UMLS:C0238016"]}
{"category": ["biolink:Disease"], "description": "A malignant hemangiopericytoma occurring in the adult population.", "id": "MONDO:0003856", "name": "Adult malignant hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult hemangiopericytoma, malignant", "hemangiopericytoma, malignant of adults", "malignant adult hemangiopericytoma"], "xref": ["DOID:6332", "GARD:0023697", "MEDGEN:83522", "NCIT:C7946", "UMLS:C0279547"]}
{"category": ["biolink:Disease"], "description": "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.", "id": "MONDO:0003857", "name": "Adult intracranial malignant hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult intracranial anaplastic hemangiopericytoma", "adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3", "adult malignant intracranial hemangiopericytoma", "central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3", "malignant adult intracranial hemangiopericytoma"], "xref": ["DOID:6333", "GARD:0027653", "MEDGEN:235288", "NCIT:C9183", "UMLS:C1334558"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the anterior visual pathway.", "id": "MONDO:0003858", "name": "Anterior optic tract meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anterior visual pathway meningioma"], "xref": ["DOID:6334", "GARD:0023698", "MEDGEN:231382", "NCIT:C7538", "UMLS:C1332308"]}
{"category": ["biolink:Disease"], "description": "Meningiomas that affects both optic nerves.", "id": "MONDO:0003859", "name": "Bilateral meningioma of optic nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bilateral optic nerve meningioma"], "xref": ["DOID:6335", "GARD:0023699", "MEDGEN:231442", "NCIT:C5304", "UMLS:C1332551"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the cerebellopontine angle.", "id": "MONDO:0003860", "name": "Cerebellopontine angle meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C-P angle meningioma", "cerebellar Pontine angle meningioma", "cerebellopontine angle meningioma (disease)", "meningioma (disease) of cerebellopontine angle", "meningioma of C-P angle", "meningioma of cerebellar Pontine angle", "meningioma of cerebellopontine angle", "meningioma of the C-P angle", "meningioma of the cerebellar Pontine angle", "meningioma of the cerebellopontine angle"], "xref": ["DOID:6337", "GARD:0023700", "MEDGEN:220388", "NCIT:C5300", "SCTID:126948004", "UMLS:C1263882"]}
{"category": ["biolink:Disease"], "description": "An eccrine adenocarcinoma that arises from the sweat glands in the vulva.", "id": "MONDO:0003861", "name": "Vulvar eccrine adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eccrine carcinoma of mammalian vulva", "mammalian vulva eccrine carcinoma", "vulvar eccrine adenocarcinoma"], "xref": ["DOID:6339", "GARD:0023701", "MEDGEN:384495", "NCIT:C40305", "UMLS:C2202743"]}
{"category": ["biolink:Disease"], "description": "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.", "id": "MONDO:0003862", "name": "Melanotic psammomatous malignant peripheral nerve sheath tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["melanocytic psammomatous MPNST", "melanocytic psammomatous malignant peripheral nerve sheath tumor", "melanocytic psammomatous malignant peripheral nerve sheath tumour", "melanotic psammomatous malignant peripheral nerve sheath tumor"], "xref": ["DOID:6344", "GARD:0023702", "MEDGEN:730167", "NCIT:C6910", "UMLS:C1321709"]}
{"category": ["biolink:Disease"], "description": "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.", "id": "MONDO:0003863", "name": "Malignant melanocytic neoplasm of the peripheral nerve sheath", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant melanocytic neoplasm of peripheral nerve sheath", "malignant melanocytic neoplasm of the peripheral nerve sheath", "malignant melanocytic peripheral nerve sheath tumor", "malignant melanocytic peripheral nerve sheath tumour", "malignant melanotic peripheral nerve sheath tumor", "malignant melanotic peripheral nerve sheath tumour", "melanocytic MPNST", "melanotic malignant nerve sheath tumour", "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)", "melanotic malignant peripheral nerve sheath tumour (morphologic abnormality)"], "xref": ["DOID:6345", "GARD:0023703", "ICD9:171.9", "MEDGEN:99184", "NCIT:C4748", "SCTID:404039004", "UMLS:C0474847"]}
{"category": ["biolink:Disease"], "description": "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.", "id": "MONDO:0003864", "name": "Chronic lymphocytic leukemia/small lymphocytic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CLL/SLL", "chronic lymphocytic leukemia/small lymphocytic lymphoma", "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)"], "xref": ["DOID:6354", "GARD:0023704", "ICDO:9823/3", "MEDGEN:224906", "NCIT:C27911", "ONCOTREE:CLLSLL", "UMLS:C1302547"]}
{"category": ["biolink:Disease"], "description": "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.", "id": "MONDO:0003865", "name": "Acral lentiginous melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acral lentiginous malignant melanoma", "acral lentiginous melanoma", "acral lentiginous melanoma (disease)", "acral lentiginous melanoma, malignant", "acral lentiginous melanoma, malignant (morphologic abnormality)"], "xref": ["DOID:6367", "HP:0012060", "ICDO:8744/3", "MEDGEN:87530", "NCIT:C4022", "ONCOTREE:ACRM", "SCTID:254732008", "UMLS:C0346037"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the liver.", "id": "MONDO:0003866", "name": "Liver extraskeletal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hepatic extraskeletal osteosarcoma", "hepatic osteogenic sarcoma", "hepatic osteosarcoma", "liver extraskeletal osteosarcoma", "liver osteogenic sarcoma", "liver osteosarcoma", "liver osteosarcoma (disease)", "osteogenic sarcoma of liver", "osteogenic sarcoma of the liver", "osteosarcoma of liver", "osteosarcoma of the liver"], "xref": ["DOID:6370", "GARD:0023705", "MEDGEN:232597", "NCIT:C5833", "UMLS:C1333974"]}
{"category": ["biolink:Disease"], "description": "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)", "id": "MONDO:0003867", "name": "Diffuse meningeal melanocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diffuse melanocytosis", "diffuse melanocytosis (morphologic abnormality)", "diffuse melanosis", "meningeal melanocytosis"], "xref": ["DOID:6379", "GARD:0027654", "ICDO:8728/0", "MEDGEN:226841", "NCIT:C6890", "UMLS:C1266112"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the anterior foramen magnum.", "id": "MONDO:0003868", "name": "Anterior foramen magnum meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of anterior Foramen magnum", "meningioma of the anterior Foramen magnum"], "xref": ["DOID:6381", "GARD:0023706", "MEDGEN:233988", "NCIT:C5281", "UMLS:C1332302"]}
{"category": ["biolink:Disease"], "description": "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.", "id": "MONDO:0003869", "name": "Childhood brain stem glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brain stem glioma of childhood", "childhood brain stem glioma", "childhood brainstem glioma", "childhood glioma of brain stem", "childhood glioma of brainstem", "childhood glioma of the brain stem", "childhood glioma of the brainstem", "paediatric brain stem glioma", "paediatric brainstem glioma", "paediatric glioma of brain stem", "paediatric glioma of brainstem", "paediatric glioma of the brain stem", "paediatric glioma of the brainstem", "pediatric brain stem glioma", "pediatric brainstem glioma", "pediatric glioma of brain stem", "pediatric glioma of brainstem", "pediatric glioma of the brain stem", "pediatric glioma of the brainstem"], "xref": ["DOID:6383", "GARD:0009306", "MEDGEN:124481", "NCIT:C9042", "UMLS:C0278600"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma that arises from the brain stem and occurs during childhood.", "id": "MONDO:0003870", "name": "Childhood brainstem astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain stem astrocytic neoplasm of childhood", "childhood brain stem astrocytic neoplasm", "childhood brain stem astrocytoma", "childhood brainstem astrocytoma", "paediatric brain stem astrocytic neoplasm", "pediatric brain stem astrocytic neoplasm"], "xref": ["DOID:6386", "GARD:0023707", "MEDGEN:234123", "NCIT:C6216", "UMLS:C1332950"]}
{"category": ["biolink:Disease"], "description": "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.", "id": "MONDO:0003872", "name": "Ovarian papillary cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian papillary cystadenoma"], "xref": ["DOID:6405", "MEDGEN:233276", "NCIT:C7278", "UMLS:C1335175"]}
{"category": ["biolink:Disease"], "description": "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.", "id": "MONDO:0003873", "name": "Ovarian surface papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian surface papilloma"], "xref": ["DOID:6407", "MEDGEN:235423", "NCIT:C7279", "UMLS:C1335183"]}
{"category": ["biolink:Disease"], "description": "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.", "id": "MONDO:0003874", "name": "Ovarian serous surface papillary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian serous surface papillary adenocarcinoma", "ovary papillary carcinoma", "serous surface papillary carcinoma of the ovary"], "xref": ["DOID:6408", "GARD:0023708", "MEDGEN:233279", "NCIT:C6256", "UMLS:C1335178"]}
{"category": ["biolink:Disease"], "description": "A mature teratoma that arises from the central nervous system during childhood.", "id": "MONDO:0003875", "name": "Childhood central nervous system mature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system mature teratoma of childhood", "childhood central nervous system mature teratoma", "paediatric central nervous system mature teratoma", "pediatric central nervous system mature teratoma"], "xref": ["DOID:6423", "GARD:0023709", "MEDGEN:232345", "NCIT:C27404", "UMLS:C1332955"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the eyelid.", "id": "MONDO:0003876", "name": "Eyelid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of eyelid", "carcinoma of the eyelid", "eyelid carcinoma"], "xref": ["DOID:6425", "MEDGEN:182526", "NCIT:C6078", "UMLS:C0920196"]}
{"category": ["biolink:Disease"], "description": "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.", "id": "MONDO:0003878", "name": "Malignant choroid melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choroid malignant melanoma", "choroid melanoma", "choroidal melanoma", "malignant melanoma of choroid", "malignant melanoma of the choroid", "melanoma (disease) of optic choroid", "melanoma of choroid", "melanoma of the choroid", "optic choroid melanoma", "optic choroid melanoma (disease)"], "xref": ["DOID:6438", "GARD:0023710", "MEDGEN:138064", "NCIT:C4561", "SCTID:255021005", "UMLS:C0346388"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.", "id": "MONDO:0003879", "name": "Ovarian endometrioid adenocarcinofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian endometrioid adenocarcinofibroma", "ovarian endometrioid malignant adenofibroma"], "xref": ["DOID:6445", "GARD:0023711", "ICDO:8381/3", "MEDGEN:276664", "NCIT:C40060", "UMLS:C1518711"]}
{"category": ["biolink:Disease"], "description": "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.", "id": "MONDO:0003880", "name": "Ceruminous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma, ceruminous gland, malignant", "ceruminous adenocarcinoma", "ceruminous adenocarcinoma (morphologic abnormality)"], "xref": ["DOID:6446", "GARD:0027655", "ICDO:8420/3", "MEDGEN:83135", "NCIT:C4176", "UMLS:C0334353"]}
{"category": ["biolink:Disease"], "description": "An apocrine adenocarcinoma that arises from the sweat glands in the vulva.", "id": "MONDO:0003881", "name": "Vulvar apocrine adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["apocrine adenocarcinoma of mammalian vulva", "mammalian vulva apocrine adenocarcinoma", "vulvar apocrine adenocarcinoma"], "xref": ["DOID:6448", "GARD:0023712", "MEDGEN:384494", "NCIT:C40308", "UMLS:C2202741"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0003882", "name": "Central nervous system fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CNS fibrosarcoma", "central nervous system fibrosarcoma", "central nervous system fibrosarcoma (disease)", "fibrosarcoma of CNS", "fibrosarcoma of central nervous system", "fibrosarcoma of the CNS", "fibrosarcoma of the central nervous system"], "xref": ["DOID:6451", "GARD:0023713", "MEDGEN:232039", "NCIT:C5465", "UMLS:C1332879"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the rectum.", "id": "MONDO:0003884", "name": "Lipoma of the rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of rectum", "rectal lipoma", "rectum lipoma"], "xref": ["DOID:6459", "MEDGEN:233392", "NCIT:C5551", "UMLS:C1335684"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.", "id": "MONDO:0003885", "name": "Colorectal lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colorectal lipoma", "large bowel lipoma", "large intestine lipoma", "lipoma of large bowel", "lipoma of the large bowel", "lipoma of the large intestine"], "xref": ["DOID:6460", "MEDGEN:232382", "NCIT:C5678", "UMLS:C1333114"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.", "id": "MONDO:0003886", "name": "Mucinous cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mucinous cystadenofibroma"], "xref": ["DOID:6468", "MEDGEN:234608", "NCIT:C8979", "UMLS:C1377844"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.", "id": "MONDO:0003887", "name": "Ovarian mucinous adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mucinous adenofibroma of ovary", "ovarian mucinous adenofibroma", "ovary mucinous adenofibroma"], "xref": ["DOID:6469", "MEDGEN:309511", "NCIT:C40040", "UMLS:C1518723"]}
{"category": ["biolink:Disease"], "description": "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.", "id": "MONDO:0003888", "name": "Childhood testicular mixed embryonal carcinoma and teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood testicular mixed embryonal carcinoma and teratoma", "paediatric testicular teratocarcinoma", "pediatric testicular teratocarcinoma"], "xref": ["DOID:6474", "GARD:0023714", "MEDGEN:234137", "NCIT:C6539", "UMLS:C1333008"]}
{"category": ["biolink:Disease"], "description": "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.", "id": "MONDO:0003889", "name": "Infiltrating bladder urothelial carcinoma, clear cell variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, clear cell variant"], "xref": ["DOID:6476", "GARD:0023715", "MEDGEN:268572", "NCIT:C39827", "UMLS:C1512737"]}
{"category": ["biolink:Disease"], "description": "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.", "id": "MONDO:0003890", "name": "Infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma", "infiltrating transitional cell carcinoma of the urinary bladder", "invasive bladder transitional cell carcinoma", "invasive bladder urothelial carcinoma", "invasive transitional cell carcinoma of the urinary bladder"], "xref": ["DOID:6477", "GARD:0023716", "MEDGEN:233582", "NCIT:C27885", "UMLS:C1334281"]}
{"category": ["biolink:Disease"], "description": "A signet ring cell carcinoma that involves the urinary bladder.", "id": "MONDO:0003891", "name": "Bladder signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder signet ring cell adenocarcinoma", "urinary bladder signet Ring adenocarcinoma", "urinary bladder signet ring cell carcinoma"], "xref": ["DOID:6481", "MEDGEN:231949", "NCIT:C6163", "UMLS:C1332563"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)", "id": "MONDO:0003892", "name": "Acinar lung adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinar adenocarcinoma of lung", "acinar adenocarcinoma of the lung", "acinar lung adenocarcinoma"], "xref": ["DOID:6482", "GARD:0023717", "MEDGEN:233130", "NCIT:C5649", "UMLS:C1332137"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the rete testis.", "id": "MONDO:0003893", "name": "Rete testis adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma, rete testis, benign", "rete testis adenoma"], "xref": ["DOID:6483", "MEDGEN:308161", "NCIT:C39956", "UMLS:C1514910"]}
{"category": ["biolink:Disease"], "description": "A melanotic schwannoma that affects the mediastinum.", "id": "MONDO:0003894", "name": "Mediastinal melanocytic neurilemmoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal melanocytic schwannoma", "mediastinal melanotic schwannoma", "melanocytic neurilemmoma of mediastinum", "melanocytic neurilemmoma of the mediastinum", "melanocytic schwannoma of mediastinum", "melanocytic schwannoma of the mediastinum"], "xref": ["DOID:6484", "GARD:0023718", "MEDGEN:277352", "NCIT:C6635", "UMLS:C1334668"]}
{"category": ["biolink:Disease"], "description": "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.", "id": "MONDO:0003895", "name": "Periosteal osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["juxtacortical chondroblastic osteosarcoma", "periosteal osteosarcoma", "periosteal osteosarcoma (morphologic abnormality)"], "xref": ["DOID:6489", "GARD:0023719", "ICDO:9193/3", "MEDGEN:234607", "NCIT:C8970", "ONCOTREE:PEOS", "UMLS:C1377843"]}
{"category": ["biolink:Disease"], "description": "A capillary hemangioma arising from the breast.", "id": "MONDO:0003896", "name": "Breast capillary hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast capillary angioma", "breast capillary hemangioma", "capillary angioma of breast", "capillary angioma of the breast", "capillary hemangioma of breast", "capillary hemangioma of the breast"], "xref": ["DOID:6491", "MEDGEN:231963", "NCIT:C5210", "UMLS:C1332619"]}
{"category": ["biolink:Disease"], "description": "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.", "id": "MONDO:0003897", "name": "Breast epithelioid hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast epithelioid hemangioma", "breast histiocytoid hemangioma", "epithelioid breast hemangioma", "epithelioid hemangioma of breast", "epithelioid hemangioma of the breast", "histiocytoid breast hemangioma", "histiocytoid hemangioma of breast", "histiocytoid hemangioma of the breast"], "xref": ["DOID:6492", "GARD:0027046", "MEDGEN:231965", "NCIT:C5211", "UMLS:C1332627"]}
{"category": ["biolink:Disease"], "description": "A myxoid chondrosarcoma occurring in children.", "id": "MONDO:0003898", "name": "Pediatric myxoid chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood myxoid chondrosarcoma", "myxoid chondrosarcoma of childhood", "pediatric myxoid chondrosarcoma"], "xref": ["DOID:6494", "GARD:0023720", "MEDGEN:232065", "NCIT:C27377", "UMLS:C1332984"]}
{"category": ["biolink:Disease"], "description": "A myxoid chondrosarcoma occurring in adults.", "id": "MONDO:0003899", "name": "Adult myxoid chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult myxoid chondrosarcoma", "myxoid chondrosarcoma of adults"], "xref": ["DOID:6495", "GARD:0023721", "MEDGEN:312875", "NCIT:C27378", "UMLS:C1706731"]}
{"category": ["biolink:Disease"], "description": "A disease involving the connective tissue.", "id": "MONDO:0003900", "name": "Connective tissue disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["connective tissue disease", "connective tissue disease or disorder", "connective tissue diseases", "connective tissue disorder", "connective tissue disorders", "disease of connective tissue", "disease or disorder of connective tissue", "disease, connective tissue", "disorder of connective tissue", "primary disorder of connective tissue", "tissue disease, connective"], "xref": ["DOID:65", "EFO:1001986", "MEDGEN:1098", "MESH:D003240", "NANDO:2100172", "NCIT:C26729", "SCTID:105969002", "UMLS:C0009782"]}
{"category": ["biolink:Disease"], "description": "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).", "id": "MONDO:0003901", "name": "Cerebellar hemangioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["angioblastoma of cerebellum", "angioblastoma of the cerebellum", "cerebellar angioblastoma", "cerebellar capillary hemangioblastoma", "cerebellar hemangioblastoma", "cerebellum hemangioblastoma", "hemangioblastoma of cerebellum", "hemangioblastoma of the cerebellum"], "xref": ["DOID:6500", "GARD:0023722", "MEDGEN:234108", "NCIT:C5146", "UMLS:C1332900"]}
{"category": ["biolink:Disease"], "description": "A hemangioblastoma that involves the brainstem.", "id": "MONDO:0003902", "name": "Brain stem hemangioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angioblastoma of brain stem", "angioblastoma of brainstem", "angioblastoma of the brain stem", "angioblastoma of the brainstem", "brain stem angioblastoma", "brain stem capillary hemangioblastoma", "brain stem hemangioblastoma", "brainstem angioblastoma", "brainstem hemangioblastoma", "hemangioblastoma of brain stem", "hemangioblastoma of brainstem", "hemangioblastoma of the brain stem", "hemangioblastoma of the brainstem"], "xref": ["DOID:6501", "GARD:0023723", "MEDGEN:231461", "NCIT:C5147", "UMLS:C1332611"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.", "id": "MONDO:0003903", "name": "Benign vaginal mixed tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign vaginal mixed tumor", "vaginal spindle cell epithelioma"], "xref": ["DOID:6505", "MEDGEN:267350", "NCIT:C40280", "UMLS:C1511107"]}
{"category": ["biolink:Disease"], "description": "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.", "id": "MONDO:0003904", "name": "Lung occult squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["occult squamous cell carcinoma of the lung", "occult squamous cell lung carcinoma"], "xref": ["DOID:6510", "MEDGEN:235400", "NCIT:C6686", "UMLS:C1335100"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.", "id": "MONDO:0003905", "name": "Ovarian yolk sac tumor, glandular pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian yolk Sac tumor, glandular pattern"], "xref": ["DOID:6511", "GARD:0023724", "MEDGEN:309520", "NCIT:C39988", "UMLS:C1518747"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.", "id": "MONDO:0003906", "name": "Ovarian yolk sac tumor, hepatoid pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian yolk Sac tumor, hepatoid pattern"], "xref": ["DOID:6512", "GARD:0023725", "MEDGEN:276676", "NCIT:C39989", "UMLS:C1518748"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.", "id": "MONDO:0003907", "name": "Ovarian yolk sac tumor, polyvesicular vitelline pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian yolk sac tumor, polyvesicular vitelline pattern"], "xref": ["DOID:6514", "GARD:0023726", "MEDGEN:309521", "NCIT:C39987", "UMLS:C1518749"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the clivus.", "id": "MONDO:0003908", "name": "Clivus meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["clivus of occipital bone meningioma (disease)", "meningioma (disease) of clivus of occipital bone", "meningioma of clivus", "meningioma of the clivus"], "xref": ["DOID:6517", "GARD:0023727", "MEDGEN:272489", "NCIT:C5289", "UMLS:C1333073"]}
{"category": ["biolink:Disease"], "description": "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.", "id": "MONDO:0003909", "name": "Bartholin gland adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bartholin gland adenomyoma", "adenomyoma of major vestibular gland", "major vestibular gland adenomyoma"], "xref": ["DOID:6518", "MEDGEN:307248", "NCIT:C40300", "UMLS:C1511049"]}
{"category": ["biolink:Disease"], "description": "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.", "id": "MONDO:0003910", "name": "Mixed cell uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mixed cell uveal melanoma"], "xref": ["DOID:6522", "EFO:1000380", "GARD:0023728", "MEDGEN:235330", "NCIT:C35781", "UMLS:C1334782"]}
{"category": ["biolink:Disease"], "description": "A mixed cell uveal melanoma that involves the ciliary body.", "id": "MONDO:0003911", "name": "Ciliary body mixed cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ciliary body mixed cell melanoma", "ciliary body mixed cell uveal melanoma", "mixed cell uveal melanoma of ciliary body"], "xref": ["DOID:6523", "GARD:0023729", "MEDGEN:234150", "NCIT:C35783", "UMLS:C1333051"]}
{"category": ["biolink:Disease"], "description": "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.", "id": "MONDO:0003912", "name": "Malignant ciliary body melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ciliary body malignant melanoma", "ciliary body melanoma", "ciliary body melanoma (disease)", "malignant melanoma of ciliary body", "malignant melanoma of the ciliary body", "melanoma (disease) of ciliary body", "melanoma of ciliary body", "melanoma of the ciliary body"], "xref": ["DOID:6524", "GARD:0023730", "ICD9:190.8", "MEDGEN:138062", "NCIT:C4558", "SCTID:255015006", "UMLS:C0346379"]}
{"category": ["biolink:Disease"], "description": "A mixed cell uveal melanoma that involves the optic choroid.", "id": "MONDO:0003913", "name": "Choroid mixed cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choroid mixed cell melanoma", "mixed cell uveal melanoma of optic choroid", "optic choroid mixed cell uveal melanoma"], "xref": ["DOID:6525", "GARD:0023731", "MEDGEN:232361", "NCIT:C35782", "UMLS:C1333025"]}
{"category": ["biolink:Disease"], "description": "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.", "id": "MONDO:0003915", "name": "Cortical thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cortical thymoma", "polygonal cell thymoma", "thymoma type B2"], "xref": ["DOID:6530", "GARD:0023732", "ICDO:8584/1", "MEDGEN:224762", "NCIT:C6888", "UMLS:C1266095"]}
{"category": ["biolink:Disease"], "description": "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.", "id": "MONDO:0003916", "name": "Overnutrition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:654", "ICD9:278.8", "MEDGEN:219760", "MESH:D044343", "SCTID:302872003", "UMLS:C1257763"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.", "id": "MONDO:0003917", "name": "Heart lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cardiac lymphoma", "PCL", "Primary heart lymphoma", "heart lymphoma", "lymphoma of heart", "lymphoma of the heart", "primary Cardiac lymphoma"], "xref": ["DOID:6547", "GARD:0023733", "MEDGEN:232331", "NCIT:C5368", "UMLS:C1332850"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.", "id": "MONDO:0003918", "name": "Angiomatous meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiomatous meningioma (morphologic abnormality)"], "xref": ["DOID:6548", "GARD:0023734", "ICDO:9534/0", "MEDGEN:87274", "NCIT:C4332", "UMLS:C0334608"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the posterior foramen magnum.", "id": "MONDO:0003921", "name": "Posterior foramen magnum meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of posterior Foramen magnum", "meningioma of the posterior Foramen magnum"], "xref": ["DOID:6553", "GARD:0023735", "MEDGEN:235488", "NCIT:C5282", "UMLS:C1335449"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.", "id": "MONDO:0003922", "name": "Ovarian clear cell malignant adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian clear cell adenocarcinofibroma", "ovarian clear cell malignant adenofibroma"], "xref": ["DOID:6554", "GARD:0023736", "ICDO:8313/3", "MEDGEN:384483", "NCIT:C40079", "UMLS:C2075522"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.", "id": "MONDO:0003923", "name": "Ethmoid sinus schneiderian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schneiderian papilloma of the ethmoid sinus", "ethmoid sinus Schneiderian papilloma"], "xref": ["DOID:6559", "GARD:0023737", "MEDGEN:232474", "NCIT:C6836", "UMLS:C1333476"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)", "id": "MONDO:0003924", "name": "Adrenal cortex adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoma of adrenal cortex", "adenoma of adrenal gland", "adenoma of the adrenal cortex", "adenoma of the adrenal gland", "adenoma, adrenocortical, benign", "adrenal adenoma", "adrenal cortex adenoma", "adrenal cortical adenoma", "adrenal gland adenoma", "adrenocortical adenoma", "benign adenoma of adrenal gland", "benign adenoma of the adrenal gland", "benign adrenal adenoma", "benign adrenal gland adenoma", "cortical cell adenoma"], "xref": ["DOID:0050891", "DOID:656", "EFO:0003104", "GARD:0027656", "HP:0008196", "HP:0008256", "ICDO:8370/0", "MEDGEN:61654", "MESH:D018246", "NANDO:2200352", "NCIT:C9003", "ONCOTREE:ACA", "Orphanet:99888", "SCTID:302826002", "UMLS:C0206667"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.", "id": "MONDO:0003925", "name": "Ethmoid sinus inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ethmoid sinus inverted papilloma", "inverted papilloma of ethmoid sinus", "inverted papilloma of the ethmoid sinus"], "xref": ["DOID:6562", "GARD:0023738", "MEDGEN:232472", "NCIT:C6843", "UMLS:C1333474"]}
{"category": ["biolink:Disease"], "description": "A schwannoma that involves the pleura.", "id": "MONDO:0003926", "name": "Neurilemmoma of the pleura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neurilemmoma of pleura", "pleura schwannoma", "pleural neurilemmoma", "pleural schwannoma", "schwannoma of pleura", "schwannoma of the pleura"], "xref": ["DOID:6564", "GARD:0023739", "MEDGEN:233863", "NCIT:C5418", "UMLS:C1335435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003927", "name": "Posterior uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6566", "GARD:0023740"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.", "id": "MONDO:0003928", "name": "Uterine corpus myxoid leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus myxoid leiomyosarcoma", "myxoid leiomyosarcoma of body of uterus", "uterine corpus myxoid leiomyosarcoma"], "xref": ["DOID:6567", "GARD:0023741", "MEDGEN:311426", "NCIT:C40175", "ONCOTREE:UMLMS", "UMLS:C1519861"]}
{"category": ["biolink:Disease"], "description": "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.", "id": "MONDO:0003929", "name": "Vestibular micropapillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["micropapillomatosis labialis", "vestibular micropapillomatosis"], "xref": ["DOID:6569", "MEDGEN:275589", "NCIT:C40290", "UMLS:C1519982"]}
{"category": ["biolink:Disease"], "description": "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)", "id": "MONDO:0003930", "name": "Non-invasive bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-invasive bladder urothelial carcinoma", "stage 0 bladder urothelial cancer", "stage 0 bladder urothelial carcinoma", "stage 0 bladder urothelial carcinoma aJCC v6", "stage 0 bladder urothelial carcinoma aJCC v6 and v7", "stage 0 bladder urothelial carcinoma aJCC v7", "stage 0 transitional cell carcinoma of bladder", "stage 0 transitional cell carcinoma of the bladder", "stage 0 transitional cell carcinoma of the urinary bladder", "stage 0 transitional cell carcinoma of urinary bladder", "stage 0 urinary bladder transitional cell carcinoma"], "xref": ["DOID:6571", "GARD:0023742", "MEDGEN:233466", "NCIT:C6188", "UMLS:C1336089"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma that arises from the visual pathway and occurs during childhood.", "id": "MONDO:0003931", "name": "Childhood optic tract astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood visual pathway astrocytoma", "optic tract astrocytoma of childhood", "paediatric optic tract astrocytoma", "paediatric visual pathway astrocytoma", "pediatric optic tract astrocytoma", "pediatric visual pathway astrocytoma"], "xref": ["DOID:6575", "GARD:0023743", "MEDGEN:232072", "NCIT:C7534", "UMLS:C1333014"]}
{"category": ["biolink:Disease"], "description": "A glioma affecting the optic tract and occurring in childhood.", "id": "MONDO:0003932", "name": "Childhood optic nerve glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood optic tract glioma", "childhood visual pathway glioma", "glioma of childhood visual pathway", "glioma of paediatric visual pathway", "glioma of pediatric visual pathway", "glioma of the childhood visual pathway", "glioma of the paediatric visual pathway", "glioma of the pediatric visual pathway", "optic nerve glioma of childhood", "paediatric optic nerve glioma", "paediatric optic tract glioma", "paediatric visual pathway glioma", "pediatric optic nerve glioma", "pediatric optic tract glioma", "pediatric visual pathway glioma"], "xref": ["DOID:6576", "GARD:0009309", "MEDGEN:124487", "NCIT:C7535", "UMLS:C0278653"]}
{"category": ["biolink:Disease"], "description": "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.", "id": "MONDO:0003933", "name": "Chest wall bone cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bone cancer of chest wall", "chest wall bone cancer", "malignant bone neoplasm of the chest wall", "malignant bone tumor of chest wall", "malignant bone tumor of the chest wall", "malignant bone tumour of chest wall", "malignant bone tumour of the chest wall", "malignant chest wall bone neoplasm", "malignant chest wall bone tumor", "malignant chest wall bone tumour"], "xref": ["DOID:6579", "GARD:0023744", "MEDGEN:233148", "NCIT:C6724", "UMLS:C1334572"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.", "id": "MONDO:0003934", "name": "Breast apocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["apocrine adenocarcinoma of breast", "apocrine breast carcinoma", "apocrine carcinoma of breast", "apocrine carcinoma of the breast", "breast apocrine adenocarcinoma", "breast apocrine carcinoma"], "xref": ["DOID:6581", "GARD:0027657", "MEDGEN:272319", "NCIT:C5141", "UMLS:C1332316"]}
{"category": ["biolink:Disease"], "description": "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.", "id": "MONDO:0003935", "name": "Oncocytic breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oncocytic breast carcinoma"], "xref": ["DOID:6585", "MEDGEN:309476", "NCIT:C40366", "UMLS:C1518574"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.", "id": "MONDO:0003936", "name": "Invasive tubular breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast tubular adenocarcinoma", "infiltrating tubular breast carcinoma", "infiltrating tubular carcinoma of breast", "infiltrating tubular carcinoma of the breast", "invasive tubular breast carcinoma", "invasive tubular carcinoma of breast", "invasive tubular carcinoma of the breast", "tubular breast cancer", "tubular breast carcinoma", "tubular carcinoma of breast", "tubular carcinoma of the breast"], "xref": ["DOID:6587", "MEDGEN:230969", "NCIT:C9135", "UMLS:C1328544"]}
{"category": ["biolink:Disease"], "description": "The inflammation of a vertebra.", "id": "MONDO:0003937", "name": "Spondylitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of vertebra", "vertebra inflammation"], "xref": ["DOID:6590", "ICD9:720.8", "ICD9:720.89", "MEDGEN:11560", "MESH:D013166", "NCIT:C116779", "SCTID:84172003", "UMLS:C0038012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003938", "name": "Bladder colonic type adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder colonic type adenocarcinoma", "bladder enteric type adenocarcinoma"], "xref": ["DOID:6594", "MEDGEN:267371", "NCIT:C39835", "UMLS:C1511188"]}
{"category": ["biolink:Disease"], "description": "A disease involving the muscle tissue.", "id": "MONDO:0003939", "name": "Muscle tissue disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of muscle organ", "disease of muscle tissue", "disease or disorder of muscle organ", "disease or disorder of muscle tissue", "disorder of muscle organ", "disorder of muscle tissue", "muscle organ disease", "muscle organ disease or disorder", "muscle tissue disease", "muscle tissue disease or disorder", "muscular disorder"], "xref": ["DOID:0080000", "DOID:66", "ICD10CM:M60-M63", "MESH:D009135"]}
{"category": ["biolink:Disease"], "description": "A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.", "id": "MONDO:0003940", "name": "Kummell disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Kummell's disease", "avascular necrosis of a vertebral body", "bony vertebral centrum osteonecrosis", "osteonecrosis of bony vertebral centrum", "traumatic spondylopathy"], "xref": ["DOID:6603", "GARD:0023745", "ICD10CM:M48.3", "ICD9:721.7", "MEDGEN:508880", "SCTID:111232005", "UMLS:C0152088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003941", "name": "Classic variant of chromophobe renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classic variant of chromophobe renal cell carcinoma"], "xref": ["DOID:6605", "GARD:0023746", "MEDGEN:232080", "NCIT:C27888", "UMLS:C1333062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003942", "name": "Eosinophilic variant of chromophobe renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eosinophilic variant of chromophobe renal cell carcinoma"], "xref": ["DOID:6606", "GARD:0023747", "MEDGEN:232458", "NCIT:C27889", "UMLS:C1333405"]}
{"category": ["biolink:Disease"], "description": "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.", "id": "MONDO:0003943", "name": "Central nervous system hibernoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system hibernoma", "hibernoma of central nervous system", "hibernoma of the central nervous system"], "xref": ["DOID:6607", "GARD:0027342", "MEDGEN:317749", "NCIT:C6997", "UMLS:C1708362"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0003944", "name": "Endobronchial leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bronchus lung leiomyoma", "endobronchial leiomyoma", "lung leiomyoma of bronchus"], "xref": ["DOID:6608", "MEDGEN:232455", "NCIT:C5661", "UMLS:C1333386"]}
{"category": ["biolink:Disease"], "description": "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.", "id": "MONDO:0003945", "name": "Bone epithelioid hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone epithelioid angioma", "bone epithelioid hemangioma", "epithelioid angioma of bone", "epithelioid angioma of the bone", "epithelioid hemangioma of bone", "epithelioid hemangioma of the bone", "osseous epithelioid angioma", "osseous epithelioid hemangioma"], "xref": ["DOID:6610", "GARD:0027047", "MEDGEN:231951", "NCIT:C5396", "UMLS:C1332575"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the vagina and is characterized by a villous architectural pattern.", "id": "MONDO:0003946", "name": "Vaginal villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vagina villous adenoma", "vaginal villous adenoma"], "xref": ["DOID:6613", "MEDGEN:275577", "NCIT:C40259", "UMLS:C1519936"]}
{"category": ["biolink:Disease"], "description": "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.", "id": "MONDO:0003947", "name": "Hyper-igm syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency with hyper-IgM"], "xref": ["DOID:0080544", "GARD:0023748", "ICD9:279.05", "MEDGEN:124420", "MESH:D053306", "NANDO:1200345", "NANDO:2200718", "NCIT:C3990", "NCIT:C84783", "OMIMPS:308230", "SCTID:82286005", "UMLS:C0272236"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the cerebral hemisphere.", "id": "MONDO:0003948", "name": "Cerebral hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of cerebral hemispheres", "angioma of cerebrum", "angioma of the cerebral hemispheres", "angioma of the cerebrum", "cerebral angioma", "cerebral hemangioma", "cerebral hemispheric angioma", "cerebral hemispheric hemangioma", "hemangioma of cerebral hemispheres", "hemangioma of cerebrum", "hemangioma of telencephalon", "hemangioma of the cerebral hemispheres", "hemangioma of the cerebrum", "telencephalon hemangioma"], "xref": ["DOID:6621", "MEDGEN:164084", "NCIT:C5433", "UMLS:C0877388"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the nipple", "id": "MONDO:0003950", "name": "Nipple carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of nipple", "nipple cancer", "nipple carcinoma"], "xref": ["DOID:6629", "MEDGEN:233756", "NCIT:C28432", "UMLS:C1334966"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the skin of the scrotum.", "id": "MONDO:0003951", "name": "Scrotal hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of scrotum", "angioma of the scrotum", "hemangioma of scrotum", "hemangioma of the scrotum", "scrotal angioma", "scrotal hemangioma", "scrotum hemangioma"], "xref": ["DOID:663", "MEDGEN:235583", "NCIT:C6387", "UMLS:C1335936"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma of the central nervous system that occurs in an adult.", "id": "MONDO:0003952", "name": "Adult central nervous system choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adult CNS choriocarcinoma", "adult central nervous system choriocarcinoma", "adult choriocarcinoma of the central nervous system", "choriocarcinoma of adult CNS", "choriocarcinoma of adult central nervous system", "choriocarcinoma of the adult CNS", "choriocarcinoma of the adult central nervous system", "choriocarcinoma of the central nervous system of adults"], "xref": ["DOID:6634", "GARD:0023749", "MEDGEN:234582", "NCIT:C5793", "UMLS:C1370505"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0003953", "name": "Pediatric cns choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["childhood CNS choriocarcinoma", "childhood central nervous system choriocarcinoma", "childhood choriocarcinoma of the central nervous system", "choriocarcinoma of childhood CNS", "choriocarcinoma of childhood central nervous system", "choriocarcinoma of paediatric CNS", "choriocarcinoma of paediatric central nervous system", "choriocarcinoma of pediatric CNS", "choriocarcinoma of pediatric central nervous system", "choriocarcinoma of the central nervous system of childhood", "choriocarcinoma of the childhood CNS", "choriocarcinoma of the childhood central nervous system", "choriocarcinoma of the paediatric CNS", "choriocarcinoma of the pediatric CNS", "choriocarcinoma of the pediatric central nervous system", "paediatric central nervous system choriocarcinoma", "paediatric choriocarcinoma of the central nervous system", "pediatric central nervous system choriocarcinoma", "pediatric choriocarcinoma of the central nervous system"], "xref": ["DOID:6639", "GARD:0023750", "MEDGEN:234603", "NCIT:C6206", "UMLS:C1377604"]}
{"category": ["biolink:Disease"], "description": "An angiokeratoma that is located on the scrotum or vulva.", "id": "MONDO:0003954", "name": "Angiokeratoma of fordyce", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:664", "MEDGEN:75529", "SCTID:6331000", "UMLS:C0263639", "icd11.foundation:410953318"]}
{"category": ["biolink:Disease"], "description": "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.", "id": "MONDO:0003955", "name": "Juvenile breast papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Swiss cheese disease", "juvenile breast papillomatosis", "juvenile papillomatosis of breast", "juvenile papillomatosis of the breast"], "xref": ["DOID:6641", "MEDGEN:233588", "NCIT:C9503", "SCTID:708518001", "UMLS:C1334303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0003956", "name": "Baastrup syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Baastrup's syndrome", "kissing spine"], "xref": ["DOID:6643", "ICD10CM:M48.2", "ICD9:721.5", "MEDGEN:510482", "SCTID:82304009", "UMLS:C0158248"]}
{"category": ["biolink:Disease"], "description": "A pineoblastoma occurring in adults.", "id": "MONDO:0003957", "name": "Adult pineoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adult pineoblastoma", "pineoblastoma of adults"], "xref": ["DOID:6648", "GARD:0023751", "MEDGEN:83794", "NCIT:C8292", "UMLS:C0281332"]}
{"category": ["biolink:Disease"], "description": "An immature teratoma that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0003958", "name": "Childhood central nervous system immature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system immature teratoma of childhood", "childhood central nervous system immature teratoma", "paediatric central nervous system immature teratoma", "pediatric central nervous system immature teratoma"], "xref": ["DOID:6654", "GARD:0023752", "MEDGEN:232344", "NCIT:C27405", "UMLS:C1332954"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.", "id": "MONDO:0003959", "name": "Breast large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast large cell neuroendocrine carcinoma", "large cell neuroendocrine carcinoma of breast"], "xref": ["DOID:6657", "GARD:0023753", "MEDGEN:307310", "NCIT:C40356", "UMLS:C1511316"]}
{"category": ["biolink:Disease"], "description": "A large cell neuroendocrine carcinoma that involves the lung(s).", "id": "MONDO:0003960", "name": "Pulmonary large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LCNEC of the lung", "large cell lung carcinoma with neuroendocrine differentiation", "large cell lung neuroendocrine carcinoma", "large cell neuroendocrine carcinoma of lung", "large cell neuroendocrine carcinoma of the lung", "lung large cell neuroendocrine carcinoma", "pulmonary large cell neuroendocrine carcinoma"], "xref": ["DOID:6658", "GARD:0023754", "MEDGEN:233608", "NCIT:C5672", "UMLS:C1334363"]}
{"category": ["biolink:Disease"], "description": "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.", "id": "MONDO:0003962", "name": "Froelich syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Babinski-Froelich syndrome", "Froehlich's syndrome", "Froelich's syndrome", "Frohlich syndrome", "Frohlich's syndrome", "Frolich's syndrome", "Fröhlich syndrome", "Launois-Cleret syndrome", "dystrophia Adiposogenitalis", "hypothalamic infantilism-obesity", "sexual infantilism"], "xref": ["DOID:6676", "ICD9:253.8", "MEDGEN:4795", "NCIT:C34625", "SCTID:62999006", "UMLS:C0016724"]}
{"category": ["biolink:Disease"], "description": "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.", "id": "MONDO:0003963", "name": "Diffuse infiltrative lymphocytosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diffuse infiltra. lymph. sydrome", "diffuse infiltra. lymph. syndrome"], "xref": ["DOID:6677", "MEDGEN:232428", "NCIT:C35699", "SCTID:449784008", "UMLS:C1333292"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.", "id": "MONDO:0003964", "name": "Myositis ossificans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FOP", "myositis ossificans progressiva"], "xref": ["DOID:668", "GARD:0023755", "MEDGEN:6503", "MESH:D009221", "NANDO:1200871", "NANDO:2201020", "NCIT:C3253", "UMLS:C0027122", "icd11.foundation:635062595"]}
{"category": ["biolink:Disease"], "description": "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.", "id": "MONDO:0003965", "name": "Capgras syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:6680", "MEDGEN:2811", "MESH:D002194", "NCIT:C34446", "UMLS:C0006895"]}
{"category": ["biolink:Disease"], "description": "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.", "id": "MONDO:0003966", "name": "Testicular monophasic choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6693", "GARD:0023756", "MEDGEN:272841", "NCIT:C39935", "UMLS:C1515290"]}
{"category": ["biolink:Disease"], "description": "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.", "id": "MONDO:0003967", "name": "Synchronous multifocal osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["synchronous multifocal osteosarcoma"], "xref": ["DOID:6696", "MEDGEN:236965", "NCIT:C6471", "UMLS:C1336544"]}
{"category": ["biolink:Disease"], "description": "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.", "id": "MONDO:0003968", "name": "Asynchronous multifocal osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["asynchronous multifocal osteosarcoma"], "xref": ["DOID:6697", "MEDGEN:231083", "NCIT:C6472", "UMLS:C1332342"]}
{"category": ["biolink:Disease"], "description": "Disorders related or resulting from use of amphetamines.", "id": "MONDO:0003969", "name": "Amphetamine abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:670", "ICD9:305.7", "ICD9:305.70", "MEDGEN:66744", "MESH:D019969", "SCTID:84758004", "UMLS:C0236807", "icd11.foundation:879494155"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the fundus of stomach.", "id": "MONDO:0003970", "name": "Gastric fundus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of fundus of stomach", "carcinoma of gastric fundus", "carcinoma of the fundus of the stomach", "carcinoma of the gastric fundus", "fundus of stomach carcinoma", "gastric fundus cancer"], "xref": ["DOID:6700", "GARD:0027658", "MEDGEN:87514", "NCIT:C8398", "SCTID:254555008", "UMLS:C0345799", "icd11.foundation:1208359113"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the pylorus.", "id": "MONDO:0003971", "name": "Gastric pylorus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of gastric pylorus", "cancer of pylorus of stomach", "cancer of the gastric pylorus", "cancer of the pylorus of the stomach", "carcinoma of gastric pylorus", "carcinoma of pylorus of stomach", "carcinoma of the gastric pylorus", "carcinoma of the pylorus of the stomach", "gastric pylorus (stomach) cancer", "gastric pylorus cancer", "gastric pylorus carcinoma"], "xref": ["DOID:6703", "GARD:0027659", "MEDGEN:234301", "NCIT:C6795", "UMLS:C1333787"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the body of stomach.", "id": "MONDO:0003972", "name": "Gastric body carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of stomach carcinoma", "cancer of body of stomach", "cancer of gastric body", "cancer of the body of the stomach", "cancer of the gastric body", "carcinoma of body of stomach", "carcinoma of gastric body", "carcinoma of the body of the stomach", "carcinoma of the gastric body", "gastric body (stomach) cancer", "gastric body cancer", "gastric body carcinoma"], "xref": ["DOID:6705", "GARD:0027660", "MEDGEN:87515", "NCIT:C8399", "SCTID:254557000", "UMLS:C0345804"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.", "id": "MONDO:0003973", "name": "Tubular variant testicular seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular seminoma, tubular variant"], "xref": ["DOID:6706", "GARD:0023757", "MEDGEN:308259", "NCIT:C40959", "UMLS:C1515294"]}
{"category": ["biolink:Disease"], "description": "A carcinoma involving a male urethral gland.", "id": "MONDO:0003975", "name": "Littre gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of LittrC) glands", "carcinoma of Littre glands", "carcinoma of Littré glands", "carcinoma of male urethral gland", "male urethral gland carcinoma"], "xref": ["DOID:6721", "GARD:0027661", "MEDGEN:273092", "NCIT:C39865", "UMLS:C1516285"]}
{"category": ["biolink:Disease"], "description": "A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.", "id": "MONDO:0003976", "name": "Malignant type ab thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["malignant thymoma type AB", "malignant type AB thymoma", "thymoma type AB, malignant"], "xref": ["DOID:6723", "GARD:0023758", "ICDO:8582/3", "MEDGEN:224760", "NCIT:C6886", "UMLS:C1266093"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.", "id": "MONDO:0003978", "name": "Colon small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Oat cell carcinoma of colon", "Oat cell carcinoma of the colon", "Oat cell colon carcinoma", "colon Oat cell carcinoma", "colon small cell carcinoma", "colon small cell neuroendocrine cancer", "colon small cell neuroendocrine carcinoma", "colonic Oat cell carcinoma", "colonic small cell carcinoma", "small cell carcinoma of colon", "small cell carcinoma of the colon", "small cell colon carcinoma"], "xref": ["DOID:6727", "GARD:0023759", "MEDGEN:232087", "NCIT:C6761", "UMLS:C1333099"]}
{"category": ["biolink:Disease"], "description": "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.", "id": "MONDO:0003979", "name": "Intrahepatic bile duct cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intrahepatic bile duct cystadenoma", "intrahepatic bile duct mucinous cystic neoplasm"], "xref": ["DOID:6733", "MEDGEN:235226", "NCIT:C96835", "UMLS:C1334257"]}
{"category": ["biolink:Disease"], "description": "A rare intracranial schwannoma that affects the jugular foramen.", "id": "MONDO:0003980", "name": "Schwannoma of jugular foramen", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["jugular Foramen neurilemmoma", "jugular foramen schwannoma", "neurilemmoma of jugular Foramen", "neurilemmoma of the jugular Foramen", "schwannoma of the jugular Foramen"], "xref": ["DOID:6735", "GARD:0023760", "MEDGEN:272780", "NCIT:C5323", "UMLS:C1334300"]}
{"category": ["biolink:Disease"], "description": "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.", "id": "MONDO:0003982", "name": "Bilateral breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bilateral breast carcinoma"], "xref": ["DOID:6741", "MEDGEN:128977", "NCIT:C8287", "UMLS:C0281267"]}
{"category": ["biolink:Disease"], "description": "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.", "id": "MONDO:0003983", "name": "Synchronous bilateral breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:6742", "MEDGEN:271163", "NCIT:C40370", "UMLS:C1515107"]}
{"category": ["biolink:Disease"], "description": "A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.", "id": "MONDO:0003984", "name": "Internal auditory canal lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inner Ear lipoma", "internal Ear lipoma", "internal acoustic meatus lipoma", "lipoma of internal acoustic meatus", "lipoma of internal auditory canal", "lipoma of the internal auditory canal"], "xref": ["DOID:6752", "MEDGEN:232658", "NCIT:C5452", "UMLS:C1334226"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.", "id": "MONDO:0003985", "name": "Chest wall lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chest wall lymphoma", "lymphoma of chest wall", "lymphoma of the chest wall", "primary chest wall lymphoma"], "xref": ["DOID:6758", "GARD:0023761", "MEDGEN:232053", "NCIT:C6712", "UMLS:C1332933"]}
{"category": ["biolink:Disease"], "description": "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.", "id": "MONDO:0003987", "name": "Lung lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung lymphoma", "lymphoma of lung", "lymphoma of the lung", "primary lung lymphoma", "pulmonary lymphoma"], "xref": ["DOID:6760", "GARD:0023762", "MEDGEN:312385", "NCIT:C4794", "UMLS:C1704383"]}
{"category": ["biolink:Disease"], "description": "A rare lymphoma that arises from the bone or soft tissue of the sternum.", "id": "MONDO:0003988", "name": "Sternum lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of sternum", "lymphoma of the sternum", "primary sternal lymphoma", "sternal lymphoma", "sternum lymphoma"], "xref": ["DOID:6762", "GARD:0023763", "MEDGEN:277770", "NCIT:C6716", "UMLS:C1336504"]}
{"category": ["biolink:Disease"], "description": "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.", "id": "MONDO:0003989", "name": "Polyembryoma of the ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian polyembryoma"], "xref": ["DOID:6774", "GARD:0023764", "MEDGEN:271323", "NCIT:C39990", "ONCOTREE:OPE", "UMLS:C1514199"]}
{"category": ["biolink:Disease"], "description": "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.", "id": "MONDO:0003990", "name": "Malignant breast myoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["breast malignant myoepithelioma", "breast myoepithelial carcinoma", "malignant breast myoepithelioma"], "xref": ["DOID:6776", "GARD:0027662", "MEDGEN:309375", "NCIT:C40395", "UMLS:C1518167"]}
{"category": ["biolink:Disease"], "description": "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.", "id": "MONDO:0003991", "name": "Villoglandular endometrial endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["villoglandular endometrial endometrioid adenocarcinoma"], "xref": ["DOID:6777", "MEDGEN:277869", "NCIT:C27846", "UMLS:C1336962"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.", "id": "MONDO:0003992", "name": "Childhood botryoid rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["botryoid rhabdomyosarcoma of childhood", "childhood botryoid-type embryonal rhabdomyosarcoma", "childhood sarcoma Botryoides", "paediatric botryoid rhabdomyosarcoma", "pediatric botryoid rhabdomyosarcoma"], "xref": ["DOID:6786", "GARD:0023765", "MEDGEN:232054", "NCIT:C35574", "UMLS:C1332944"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.", "id": "MONDO:0003993", "name": "Childhood vagina botryoid rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood", "childhood botryoid-type embryonal rhabdomyosarcoma of the vagina", "childhood sarcoma Botryoides of the vagina", "paediatric botryoid-type embryonal rhabdomyosarcoma of the vagina", "pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina", "vaginal childhood botryoid-type embryonal rhabdomyosarcoma", "vaginal childhood sarcoma Botryoides"], "xref": ["DOID:6787", "GARD:0023766", "MEDGEN:232055", "NCIT:C35556", "UMLS:C1332945"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.", "id": "MONDO:0003994", "name": "Botryoid-type embryonal rhabdomyosarcoma of the vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["botryoid rhabdomyosarcoma of vagina", "botryoid-type embryonal rhabdomyosarcoma of the vagina", "sarcoma Botryoides of the vagina", "vagina botryoid rhabdomyosarcoma"], "xref": ["DOID:6788", "GARD:0023767", "MEDGEN:267758", "NCIT:C40268", "UMLS:C1511275"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.", "id": "MONDO:0003995", "name": "Vulvar childhood botryoid-type embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood botryoid rhabdomyosarcoma of mammalian vulva", "childhood botryoid-type embryonal rhabdomyosarcoma of the vulva", "childhood sarcoma Botryoides of the vulva", "mammalian vulva childhood botryoid rhabdomyosarcoma", "vulvar childhood botryoid-type embryonal rhabdomyosarcoma"], "xref": ["DOID:6789", "GARD:0023768", "MEDGEN:232056", "NCIT:C36098", "UMLS:C1332946"]}
{"category": ["biolink:Disease"], "description": "A disease involving the basal ganglia.", "id": "MONDO:0003996", "name": "Basal ganglia disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal ganglia disease", "collection of basal ganglia disease", "collection of basal ganglia disease or disorder", "disease of basal ganglia", "disease of collection of basal ganglia", "disease or disorder of collection of basal ganglia", "disorder of collection of basal ganglia"], "xref": ["CSP:2057-3403", "DOID:679", "EFO:0009533", "ICD9:333.0", "MEDGEN:1619147", "MESH:D001480", "SCTID:70835005", "UMLS:C4520981"]}
{"category": ["biolink:Disease"], "description": "A Kaposi sarcoma arising from the colon.", "id": "MONDO:0003997", "name": "Colon kaposi sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Kaposi's sarcoma (disease) of colon", "Kaposi's sarcoma of colon", "Kaposi's sarcoma of the colon", "colon Kaposi sarcoma", "colon Kaposi's sarcoma", "colon Kaposi's sarcoma (disease)", "colon Kaposis sarcoma", "colonic Kaposi sarcoma", "colonic Kaposi's sarcoma", "colonic Kaposis sarcoma"], "xref": ["DOID:6804", "GARD:0023769", "MEDGEN:232378", "NCIT:C5516", "UMLS:C1333091"]}
{"category": ["biolink:Disease"], "description": "A pilocytic astrocytoma that occurs during adolescence.", "id": "MONDO:0003999", "name": "Juvenile pilocytic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile pilocytic astrocytoma"], "xref": ["DOID:6811", "GARD:0023770", "MEDGEN:128890", "NCIT:C27081", "Orphanet:673580", "UMLS:C0280783"]}
{"category": ["biolink:Disease"], "description": "A pilocytic astrocytoma that occurs during childhood.", "id": "MONDO:0004000", "name": "Childhood pilocytic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood pilocytic astrocytoma", "paediatric pilocytic astrocytoma", "pediatric pilocytic astrocytoma", "pilocytic astrocytoma of childhood"], "xref": ["DOID:6812", "GARD:0023771", "MEDGEN:232355", "NANDO:2200084", "NCIT:C4048", "UMLS:C1332995"]}
{"category": ["biolink:Disease"], "description": "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.", "id": "MONDO:0004001", "name": "Compartment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["compartment syndrome"], "xref": ["DOID:682", "GARD:0006141", "ICD9:958.8", "ICD9:958.90", "MEDGEN:40417", "MESH:D003161", "NCIT:C118422", "SCTID:111245009", "UMLS:C0009492"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the peripheral motor nerves.", "id": "MONDO:0004004", "name": "Motor nerve neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:683", "GARD:0023772", "MEDGEN:68610", "UMLS:C0235025"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.", "id": "MONDO:0004005", "name": "Rete ovarii adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma, rete ovarii, benign", "rete ovarii adenoma"], "xref": ["DOID:6837", "MEDGEN:271495", "NCIT:C40018", "UMLS:C1514905"]}
{"category": ["biolink:Disease"], "description": "An exceptionally rare cystadenofibroma that arises from the rete ovarii.", "id": "MONDO:0004006", "name": "Rete ovarii cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystadenofibroma of rete ovarii", "rete ovarii cystadenofibroma"], "xref": ["DOID:6838", "MEDGEN:308159", "NCIT:C40020", "UMLS:C1514906"]}
{"category": ["biolink:Disease"], "description": "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.", "id": "MONDO:0004007", "name": "Breast intraductal proliferative lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DIN", "ductal intraepithelial neoplasia", "intraductal proliferative lesion", "intraductal proliferative lesion of the breast", "mammary intraepithelial neoplasia, ductal type"], "xref": ["DOID:6839", "MEDGEN:277343", "NCIT:C27942", "UMLS:C1334631"]}
{"category": ["biolink:Disease"], "description": "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.", "id": "MONDO:0004008", "name": "Flat ductal epithelial atypia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DIN 1A", "FEA", "clinging carcinoma", "ductal intraepithelial neoplasia, grade 1A", "flat ductal epithelial atypia", "flat ductal epithelial atypia of the breast", "flat epithelial atypia", "flat epithelial atypia of the breast"], "xref": ["DOID:6841", "MEDGEN:232508", "NCIT:C36086", "UMLS:C1333620"]}
{"category": ["biolink:Disease"], "description": "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.", "id": "MONDO:0004009", "name": "Kidney pelvis sarcomatoid transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant", "kidney pelvis sarcomatoid transitional cell carcinoma", "renal pelvis sarcomatoid transitional cell carcinoma", "sarcomatoid transitional cell carcinoma of kidney pelvis", "sarcomatoid transitional cell carcinoma of renal pelvis", "sarcomatoid transitional cell carcinoma of the kidney pelvis", "sarcomatoid transitional cell carcinoma of the renal pelvis"], "xref": ["DOID:6844", "GARD:0023773", "MEDGEN:233403", "NCIT:C6186", "UMLS:C1335752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004010", "name": "Infiltrating renal pelvis/ureter urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infiltrating renal pelvis and ureter transitional cell carcinoma", "infiltrating renal pelvis and ureter urothelial carcinoma"], "xref": ["MEDGEN:268273", "NCIT:C39879", "UMLS:C1512750"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.", "id": "MONDO:0004012", "name": "Adult botryoid rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult botryoid sarcoma", "adult botryoid-type embryonal rhabdomyosarcoma", "botryoid rhabdomyosarcoma of adults"], "xref": ["DOID:6847", "GARD:0023774", "MEDGEN:231032", "NCIT:C36099", "UMLS:C1332185"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.", "id": "MONDO:0004013", "name": "Adult vagina botryoid embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult botryoid-type embryonal rhabdomyosarcoma of the vagina", "adult sarcoma Botryoides of the vagina", "botryoid-type embryonal rhabdomyosarcoma of the vagina of adults"], "xref": ["DOID:6848", "GARD:0023775", "MEDGEN:272994", "NCIT:C40267", "UMLS:C1515893"]}
{"category": ["biolink:Disease"], "description": "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.", "id": "MONDO:0004014", "name": "Ethmoid sinus ectopic meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ethmoid sinus primary ectopic meningioma", "ethmoidal sinus primary ectopic meningioma", "primary ectopic meningioma of ethmoid sinus", "primary ectopic meningioma of ethmoidal sinus", "primary ectopic meningioma of the ethmoid sinus", "primary ectopic meningioma of the ethmoidal sinus"], "xref": ["DOID:6854", "GARD:0023776", "MEDGEN:232473", "NCIT:C5309", "UMLS:C1333475"]}
{"category": ["biolink:Disease"], "description": "A mature or immature teratoma that arises in the pineal region.", "id": "MONDO:0004015", "name": "Pineal region teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pineal area teratoma", "teratoma of pineal area", "teratoma of pineal region", "teratoma of the pineal area", "teratoma of the pineal region"], "xref": ["DOID:6856", "GARD:0023777", "MEDGEN:277517", "NCIT:C6753", "UMLS:C1335419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004016", "name": "Pineal region mature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mature teratoma of pineal area", "mature teratoma of pineal region", "mature teratoma of the pineal area", "mature teratoma of the pineal region", "pineal area mature teratoma"], "xref": ["DOID:6857", "GARD:0023778", "MEDGEN:233329", "NCIT:C6754", "UMLS:C1335417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004017", "name": "Pineal region immature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["atypical pineal teratoma", "immature teratoma of pineal area", "immature teratoma of pineal region", "immature teratoma of the pineal area", "immature teratoma of the pineal region", "pineal area immature teratoma"], "xref": ["DOID:6858", "GARD:0023779", "MEDGEN:277516", "NCIT:C6755", "UMLS:C1335416"]}
{"category": ["biolink:Disease"], "description": "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.", "id": "MONDO:0004019", "name": "Oxyphilic endometrial endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oxyphilic endometrial endometrioid adenocarcinoma"], "xref": ["DOID:6865", "MEDGEN:309527", "NCIT:C27849", "UMLS:C1518768"]}
{"category": ["biolink:Disease"], "description": "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.", "id": "MONDO:0004020", "name": "Mediastinal gray zone lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma", "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma", "mediastinal Gray zone lymphoma", "mediastinal Grey zone lymphoma"], "xref": ["DOID:6867", "GARD:0023780", "MEDGEN:233679", "NCIT:C37870", "UMLS:C1334657"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.", "id": "MONDO:0004021", "name": "Mediastinal malignant lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphoma of mediastinum", "lymphoma of the mediastinum", "mediastinal lymphoma", "mediastinal malignant lymphoma", "mediastinum lymphoma", "primary mediastinal lymphoma"], "xref": ["DOID:6868", "GARD:0023781", "MEDGEN:235311", "NCIT:C6633", "UMLS:C1334665"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.", "id": "MONDO:0004022", "name": "Parasagittal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6869", "GARD:0023782", "MEDGEN:155845", "NCIT:C4960", "UMLS:C0751304"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma that affects the spinal cord.", "id": "MONDO:0004024", "name": "Spinal cord neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neuroblastoma of spinal cord", "spinal cord neuroblastoma"], "xref": ["DOID:6871", "GARD:0023783", "MEDGEN:234803", "NCIT:C5155", "UMLS:C1336046"]}
{"category": ["biolink:Disease"], "description": "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.", "id": "MONDO:0004026", "name": "Skin tag", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acrochordon", "cutaneous fibroepithelial polyp", "cutaneous tag", "fibroepithelial polyp of skin", "fibroepithelial polyp of the skin", "fibroma molle", "soft fibroma"], "xref": ["DOID:6873", "MEDGEN:11452", "NCIT:C3374", "SCTID:201091002", "UMLS:C0037293"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0004028", "name": "Small intestinal fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fibrosarcoma of small bowel", "fibrosarcoma of small intestine", "fibrosarcoma of the small bowel", "fibrosarcoma of the small intestine", "fibrosarcoma, small intestine", "small bowel fibrosarcoma", "small intestinal fibrosarcoma", "small intestine fibrosarcoma", "small intestine fibrosarcoma (disease)"], "xref": ["DOID:6880", "GARD:0023784", "MEDGEN:234788", "NCIT:C5336", "UMLS:C1335994"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.", "id": "MONDO:0004030", "name": "Ureter transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["transitional cell carcinoma of the ureter", "transitional cell carcinoma of ureter", "ureter transitional cell carcinoma", "ureter urothelial cancer", "ureter urothelial carcinoma", "ureteral transitional cell carcinoma", "ureteral urothelial cell carcinoma", "urothelial cell carcinoma of the ureter", "urothelial cell carcinoma of ureter"], "xref": ["DOID:6888", "GARD:0023785", "MEDGEN:108291", "NCIT:C4830", "SCTID:300988009", "UMLS:C0577692"]}
{"category": ["biolink:Disease"], "description": "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.", "id": "MONDO:0004032", "name": "Ovarian seromucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant ovarian mixed epithelial neoplasm", "malignant ovarian mixed epithelial tumor", "malignant ovarian mixed epithelial tumour", "mixed epithelial carcinoma of the ovary", "ovarian Seromucinous carcinoma", "ovarian mixed epithelial carcinoma", "ovary mixed epithelial carcinoma"], "xref": ["DOID:6898", "DOID:6899", "GARD:0023786", "MEDGEN:1651770", "NCIT:C40090", "ONCOTREE:MXOV", "ONCOTREE:OSMCA", "UMLS:C0279392"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that involves the eye.", "id": "MONDO:0004034", "name": "Eye lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["eye lymphoma", "eyeball of camera-type eye lymphoma", "lymphoma of eyeball of camera-type eye", "primary eye lymphoma"], "xref": ["DOID:6903", "GARD:0023787", "MEDGEN:1788822", "NCIT:C35690", "UMLS:C0730306"]}
{"category": ["biolink:Disease"], "description": "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.", "id": "MONDO:0004035", "name": "Glomangiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:6906", "MEDGEN:234311", "NCIT:C27496", "UMLS:C1333824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004037", "name": "Retinal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:6929", "ICD10CM:H35.81", "ICD9:362.83", "MEDGEN:69183", "SCTID:6141006", "UMLS:C0242420"]}
{"category": ["biolink:Disease"], "description": "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.", "id": "MONDO:0004038", "name": "Dental enamel hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enamel hypoplasia"], "xref": ["DOID:693", "EFO:1001304", "MEDGEN:3730", "MESH:D003744", "NCIT:C34529", "SCTID:26597004", "UMLS:C0011351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004039", "name": "Papillary extrahepatic bile duct adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6931", "GARD:0023788", "MEDGEN:167831", "UMLS:C0861858"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.", "id": "MONDO:0004040", "name": "Urinary bladder inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder inverted papilloma", "urinary bladder inverted papilloma"], "xref": ["DOID:6932", "MEDGEN:267740", "NCIT:C39859", "SCTID:447765004", "UMLS:C1511190"]}
{"category": ["biolink:Disease"], "description": "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.", "id": "MONDO:0004041", "name": "Urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["urothelial papilloma"], "xref": ["DOID:6933", "ICDO:8120/1", "MEDGEN:115999", "NCIT:C3842", "ONCOTREE:UPA", "UMLS:C0235754"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.", "id": "MONDO:0004042", "name": "Urethra inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inverted papilloma of the urethra", "inverted papilloma of urethra", "urethra inverted papilloma", "urethral inverted papilloma"], "xref": ["DOID:6934", "MEDGEN:237034", "NCIT:C6173", "UMLS:C1336887"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.", "id": "MONDO:0004043", "name": "Ureter inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inverted papilloma of the ureter", "inverted papilloma of ureter", "ureter inverted papilloma", "ureteral inverted papilloma"], "xref": ["DOID:6935", "MEDGEN:277845", "NCIT:C6174", "UMLS:C1336874"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.", "id": "MONDO:0004044", "name": "Ureter urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ureter urothelial papilloma"], "xref": ["DOID:6936", "MEDGEN:275548", "NCIT:C6160", "UMLS:C1519823"]}
{"category": ["biolink:Disease"], "description": "Retinoblastoma during childhood that has not spread beyond the eye.", "id": "MONDO:0004045", "name": "Pediatric intraocular retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood intraocular retinoblastoma", "intraocular retinoblastoma of childhood", "pediatric intraocular retinoblastoma"], "xref": ["DOID:6938", "GARD:0023789", "MEDGEN:230836", "NCIT:C9047", "UMLS:C1321869"]}
{"category": ["biolink:Disease"], "description": "A brain meningioma that occurs during childhood.", "id": "MONDO:0004046", "name": "Childhood brain meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain paediatric meningioma", "brain pediatric meningioma", "childhood meningioma of brain", "childhood meningioma of the brain", "paediatric brain meningioma", "paediatric meningioma of brain", "paediatric meningioma of the brain", "pediatric brain meningioma", "pediatric meningioma of the brain"], "xref": ["DOID:6939", "GARD:0023790", "MEDGEN:234122", "NCIT:C6253", "UMLS:C1332949"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0004047", "name": "Sphenoidal sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neoplasm of sphenoid sinus", "neoplasm of sphenoidal sinus", "neoplasm of the sphenoid sinus", "neoplasm of the sphenoidal sinus", "sphenoid sinus neoplasm", "sphenoid sinus tumor", "sphenoid sinus tumour", "sphenoidal sinus neoplasm", "sphenoidal sinus neoplasm (disease)", "sphenoidal sinus tumor", "sphenoidal sinus tumour", "tumor of sphenoid sinus", "tumor of sphenoidal sinus", "tumor of the sphenoid sinus", "tumor of the sphenoidal sinus", "tumour of sphenoid sinus", "tumour of sphenoidal sinus", "tumour of the sphenoid sinus", "tumour of the sphenoidal sinus"], "xref": ["DOID:6947", "GARD:0023791", "MEDGEN:87511", "NCIT:C6792", "SCTID:126679002", "UMLS:C0345676"]}
{"category": ["biolink:Disease"], "description": "A malignant teratoma that arises from the stomach.", "id": "MONDO:0004048", "name": "Immature gastric teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immature gastric teratoma", "malignant teratoma of the stomach", "stomach malignant teratoma"], "xref": ["DOID:6948", "GARD:0023792", "MEDGEN:272752", "NCIT:C5256", "UMLS:C1334151"]}
{"category": ["biolink:Disease"], "description": "Neurotic reactions to unusual, severe, or overwhelming military stress.", "id": "MONDO:0004049", "name": "Combat disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["combat disorder", "combat neurosis"], "xref": ["DOID:6950", "MEDGEN:40403", "MESH:D003130", "SCTID:279611005", "UMLS:C0009426"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.", "id": "MONDO:0004050", "name": "Telangiectatic osteogenic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant bone aneurysm", "telangiectatic osteosarcoma", "telangiectatic osteosarcoma (morphologic abnormality)"], "xref": ["DOID:6951", "GARD:0023793", "ICDO:9183/3", "MEDGEN:78059", "NCIT:C3902", "ONCOTREE:TEOS", "UMLS:C0259782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004051", "name": "Aleukemic monocytic leukemia cutis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aleukemic monocytic leukemia cutis"], "xref": ["DOID:6958", "GARD:0023794", "MEDGEN:231050", "NCIT:C5630", "UMLS:C1332232"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the transitional zone at the junction of the rectum and anus.", "id": "MONDO:0004052", "name": "Rectal cloacogenic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cloacogenic carcinoma of rectum", "cloacogenic carcinoma of the rectum", "rectal cloacogenic carcinoma", "rectal transition zone carcinoma", "rectal transitional zone carcinoma", "transition zone carcinoma of rectum", "transition zone carcinoma of the rectum", "transitional zone carcinoma of rectum", "transitional zone carcinoma of the rectum"], "xref": ["DOID:6959", "GARD:0023795", "MEDGEN:234156", "NCIT:C5555", "UMLS:C1333074"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.", "id": "MONDO:0004053", "name": "Bartholin gland squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin's gland squamous cell carcinoma", "bartholin gland squamous cell carcinoma", "major vestibular gland squamous cell carcinoma"], "xref": ["DOID:6961", "GARD:0023796", "MEDGEN:307249", "NCIT:C40293", "UMLS:C1511052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004054", "name": "Acute canaliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute canaliculitis, lacrimal", "acute lacrimal canaliculitis"], "xref": ["DOID:6969", "ICD10CM:H04.33", "ICD9:375.31", "MEDGEN:572974", "SCTID:84399007", "UMLS:C0339130"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004055", "name": "Acute inflammation of lacrimal passage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:6970", "ICD9:375.3", "MEDGEN:572973", "SCTID:302900006", "UMLS:C0339129"]}
{"category": ["biolink:Disease"], "description": "An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003", "id": "MONDO:0004056", "name": "Bladder papillary urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bladder papillary urothelial carcinoma", "urinary bladder papillary transitional cell carcinoma", "urothelial papillary carcinoma of the bladder"], "xref": ["DOID:6975", "GARD:0023797", "MEDGEN:309552", "NCIT:C7383", "UMLS:C1518882"]}
{"category": ["biolink:Disease"], "description": "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003", "id": "MONDO:0004057", "name": "Micropapillary variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, micropapillary variant"], "xref": ["DOID:6976", "GARD:0023798", "MEDGEN:273397", "NCIT:C27202", "UMLS:C1517579"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.", "id": "MONDO:0004058", "name": "Pancreatic cholera", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Verner Morrison syndrome", "WDHA syndrome", "WDHH", "islet cell WDHA syndrome", "pancreatic WDHA syndrome", "watery diarrhea syndrome", "watery diarrhea with hypokalemic alkalosis", "watery diarrhea, hypokalemia, and achlorhydria syndrome", "watery diarrhoea syndrome", "watery diarrhoea with hypokalemic alkalosis"], "xref": ["DOID:6977", "ICD9:259.3", "MEDGEN:39692", "NCIT:C3488", "SCTID:39998009", "UMLS:C0086768"]}
{"category": ["biolink:Disease"], "description": "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.", "id": "MONDO:0004059", "name": "Dentin sensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:698", "MEDGEN:41477", "MESH:D003807", "SCTID:13468005", "UMLS:C0011432"]}
{"category": ["biolink:Disease"], "description": "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.", "id": "MONDO:0004060", "name": "Peripheral epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["conventional epithelioid sarcoma", "distal-type epithelioid sarcoma"], "xref": ["DOID:6988", "GARD:0023799", "MEDGEN:232131", "NCIT:C27473", "UMLS:C1333306"]}
{"category": ["biolink:Disease"], "description": "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.", "id": "MONDO:0004062", "name": "Intermediate cell type uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Intermediate cell type intraocular melanoma", "Intermediate cell type uveal melanoma"], "xref": ["DOID:6992", "GARD:0023800", "MEDGEN:76016", "NCIT:C7989", "UMLS:C0279693"]}
{"category": ["biolink:Disease"], "description": "Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.", "id": "MONDO:0004063", "name": "Intermediate cell type iris melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Intermediate cell type iris melanoma", "intermediate cell type uveal melanoma of iris", "iris intermediate cell type uveal melanoma"], "xref": ["DOID:6993", "GARD:0023801", "MEDGEN:233564", "NCIT:C6101", "UMLS:C1334210"]}
{"category": ["biolink:Disease"], "description": "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.", "id": "MONDO:0004064", "name": "Iris melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iris malignant melanoma", "iris melanoma", "iris melanoma (disease)", "malignant melanoma of iris", "malignant melanoma of the iris", "melanoma (disease) of iris", "melanoma of iris", "melanoma of the iris"], "xref": ["DOID:6994", "GARD:0023802", "MEDGEN:87559", "NCIT:C9088", "SCTID:255012009", "UMLS:C0346373"]}
{"category": ["biolink:Disease"], "description": "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.", "id": "MONDO:0004065", "name": "Intermediate cell type choroid melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Intermediate cell type choroid melanoma", "intermediate cell type uveal melanoma of optic choroid", "optic choroid intermediate cell type uveal melanoma"], "xref": ["DOID:6996", "GARD:0023803", "MEDGEN:272760", "NCIT:C6100", "UMLS:C1334208"]}
{"category": ["biolink:Disease"], "description": "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.", "id": "MONDO:0004066", "name": "Intermediate cell type ciliary body melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Intermediate cell type ciliary body melanoma", "ciliary body intermediate cell type uveal melanoma", "intermediate cell type uveal melanoma of ciliary body"], "xref": ["DOID:6997", "GARD:0023804", "MEDGEN:233563", "NCIT:C6118", "UMLS:C1334209"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.", "id": "MONDO:0004067", "name": "Gallbladder mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colloid carcinoma of gallbladder", "colloid carcinoma of the gallbladder", "colloidal carcinoma of gallbladder", "colloidal carcinoma of the gallbladder", "gall bladder mucinous adenocarcinoma", "gallbladder colloid carcinoma", "gallbladder colloidal carcinoma", "gallbladder mucinous adenocarcinoma", "mucinous carcinoma of gallbladder", "mucinous carcinoma of the gallbladder"], "xref": ["DOID:6998", "GARD:0023805", "MEDGEN:234292", "NCIT:C5744", "UMLS:C1333750"]}
{"category": ["biolink:Disease"], "description": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.", "id": "MONDO:0004069", "name": "Inborn mitochondrial metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:700", "GARD:0018887", "MEDGEN:1778113", "MESH:D028361", "NANDO:1200173", "NANDO:2100163", "Orphanet:68380", "UMLS:C1456275"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.", "id": "MONDO:0004071", "name": "Childhood cerebral astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood astrocytic tumor of telencephalon", "childhood astrocytic tumour of telencephalon", "childhood astrocytoma of cerebrum", "childhood astrocytoma of the cerebrum", "paediatric astrocytoma of cerebrum", "paediatric astrocytoma of the cerebrum", "paediatric cerebral astrocytoma", "pediatric astrocytoma of cerebrum", "pediatric astrocytoma of the cerebrum", "pediatric cerebral astrocytoma", "telencephalon childhood astrocytic tumor", "telencephalon childhood astrocytic tumour", "telencephalon juvenile astrocytoma"], "xref": ["DOID:7007", "GARD:0009302", "MEDGEN:137828", "NCIT:C4347", "UMLS:C0338070"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.", "id": "MONDO:0004074", "name": "Ovarian mucinous cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian mucinous cystadenofibroma"], "xref": ["DOID:7013", "MEDGEN:276670", "NCIT:C40041", "UMLS:C1518725"]}
{"category": ["biolink:Disease"], "description": "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.", "id": "MONDO:0004075", "name": "Infiltrating lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intramuscular lipoma", "intramuscular lipoma (morphologic abnormality)"], "xref": ["DOID:7014", "MEDGEN:90788", "NCIT:C7450", "NCIT:C7451", "UMLS:C0334473"]}
{"category": ["biolink:Disease"], "description": "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.", "id": "MONDO:0004076", "name": "Tendon sheath lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of tendon sheath", "lipoma of the tendon sheath", "tendon sheath lipoma"], "xref": ["DOID:7016", "MEDGEN:277806", "NCIT:C6499", "UMLS:C1336703"]}
{"category": ["biolink:Disease"], "description": "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.", "id": "MONDO:0004077", "name": "Lumbosacral lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of sacral region of vertebral column", "sacral region of vertebral column lipoma"], "xref": ["DOID:7017", "MEDGEN:232708", "NCIT:C6500", "UMLS:C1334438"]}
{"category": ["biolink:Disease"], "description": "An intrahepatic cholangiocarcinoma that produces abundant mucin.", "id": "MONDO:0004078", "name": "Mucinous intrahepatic cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mucin-producing intrahepatic cholangiocarcinoma", "mucinous intrahepatic cholangiocarcinoma"], "xref": ["DOID:7024", "GARD:0023806", "MEDGEN:270842", "NCIT:C41618", "UMLS:C1513718"]}
{"category": ["biolink:Disease"], "description": "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.", "id": "MONDO:0004079", "name": "Lung mucous gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of bronchial mucous gland", "adenoma of the bronchial mucous gland", "bronchial cystadenoma", "lung mucous gland adenoma", "lung polyadenoma"], "xref": ["DOID:7030", "MEDGEN:234054", "NCIT:C5664", "UMLS:C1332640"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.", "id": "MONDO:0004080", "name": "Glottis squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epidermoid carcinoma of glottis", "epidermoid carcinoma of the glottis", "glottic epidermoid carcinoma", "glottic squamous cell carcinoma", "glottis epidermoid carcinoma", "glottis squamous cell carcinoma", "squamous cell carcinoma of glottis", "squamous cell carcinoma of the glottis"], "xref": ["DOID:7031", "GARD:0023807", "MEDGEN:76096", "NCIT:C8186", "UMLS:C0280325"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.", "id": "MONDO:0004081", "name": "Extrahepatic bile duct clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bile duct clear cell adenocarcinoma", "clear cell adenocarcinoma of bile duct", "clear cell adenocarcinoma of the bile duct", "clear cell bile duct adenocarcinoma", "extrahepatic bile duct clear cell adenocarcinoma"], "xref": ["DOID:7032", "GARD:0023808", "MEDGEN:167829", "NCIT:C5775", "UMLS:C0861855"]}
{"category": ["biolink:Disease"], "description": "An immature teratoma that arises from the ovary and occurs in children.", "id": "MONDO:0004082", "name": "Childhood immature teratoma of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood immature ovarian teratoma", "childhood immature teratoma of the ovary", "childhood ovarian immature teratoma", "immature ovarian teratoma of childhood", "paediatric immature ovarian teratoma", "paediatric immature teratoma of ovary", "paediatric immature teratoma of the ovary", "paediatric ovarian immature teratoma", "pediatric immature ovarian teratoma", "pediatric immature teratoma of ovary", "pediatric immature teratoma of the ovary", "pediatric ovarian immature teratoma"], "xref": ["DOID:7037", "GARD:0023809", "MEDGEN:232353", "NCIT:C6547", "UMLS:C1332990"]}
{"category": ["biolink:Disease"], "description": "A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.", "id": "MONDO:0004083", "name": "Borst-jadassohn intraepidermal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraepidermal epithelioma of Jadassohn"], "xref": ["DOID:7039", "ICDO:8096/0", "MEDGEN:424845", "NCIT:C4110", "SCTID:403886007", "UMLS:C2937231"]}
{"category": ["biolink:Disease"], "description": "A epithelioid cell melanoma that involves the optic choroid.", "id": "MONDO:0004085", "name": "Choroid epithelioid cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choroid epithelioid cell melanoma", "choroidal epithelioid cell melanoma", "epithelioid cell melanoma of choroid", "epithelioid cell melanoma of optic choroid", "epithelioid cell melanoma of the choroid", "optic choroid epithelioid cell melanoma"], "xref": ["DOID:7041", "GARD:0023810", "MEDGEN:232360", "NCIT:C6102", "UMLS:C1333024"]}
{"category": ["biolink:Disease"], "description": "A epithelioid cell melanoma that involves the ciliary body.", "id": "MONDO:0004086", "name": "Ciliary body epithelioid cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ciliary body epithelioid cell melanoma", "epithelioid cell melanoma of ciliary body", "epithelioid cell melanoma of the ciliary body"], "xref": ["DOID:7042", "GARD:0023811", "MEDGEN:272484", "NCIT:C6119", "UMLS:C1333050"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.", "id": "MONDO:0004087", "name": "Basaloid large cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basaloid large cell lung carcinoma"], "xref": ["DOID:7045", "MEDGEN:231419", "NCIT:C7266", "ONCOTREE:BLCLC", "UMLS:C1332463"]}
{"category": ["biolink:Disease"], "description": "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.", "id": "MONDO:0004088", "name": "Cervical basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical basaloid carcinoma", "cervical basaloid squamous cell carcinoma"], "xref": ["DOID:7046", "GARD:0023812", "MEDGEN:267027", "NCIT:C40189", "UMLS:C1511063"]}
{"category": ["biolink:Disease"], "description": "An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.", "id": "MONDO:0004089", "name": "Basaloid carcinoma of the penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basaloid carcinoma of penis", "basaloid carcinoma of the penis", "basaloid penile squamous cell carcinoma", "basaloid squamous cell carcinoma of penis", "basaloid squamous cell carcinoma of the penis", "penis basaloid squamous cell carcinoma", "squamous cell carcinoma of penis, basaloid type", "squamous cell carcinoma of the penis, basaloid type"], "xref": ["DOID:7047", "GARD:0023813", "MEDGEN:231418", "NCIT:C6980", "ONCOTREE:BPSCC", "UMLS:C1332462"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.", "id": "MONDO:0004090", "name": "Vulvar basaloid squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vulvar basaloid carcinoma", "vulvar basaloid squamous cell carcinoma"], "xref": ["DOID:7048", "GARD:0023814", "MEDGEN:384496", "NCIT:C40286", "UMLS:C2211850"]}
{"category": ["biolink:Disease"], "description": "A basaloid squamous cell carcinoma that involves the zone of skin.", "id": "MONDO:0004091", "name": "Skin basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basaloid skin squamous cell carcinoma", "skin basaloid carcinoma", "skin basaloid squamous cell carcinoma", "zone of skin basaloid squamous cell carcinoma"], "xref": ["DOID:7049", "MEDGEN:233446", "NCIT:C27543", "UMLS:C1335973"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.", "id": "MONDO:0004092", "name": "Thymic basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Thymus basaloid carcinoma", "basaloid carcinoma of Thymus", "basaloid carcinoma of the Thymus", "thymic basaloid carcinoma", "thymus basaloid squamous cell carcinoma"], "xref": ["DOID:7050", "GARD:0023815", "MEDGEN:231420", "NCIT:C6456", "UMLS:C1332464"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)", "id": "MONDO:0004093", "name": "Esophageal basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basaloid squamous carcinoma of esophagus", "basaloid squamous carcinoma of oesophagus", "esophageal basaloid cancer", "esophageal basaloid carcinoma"], "xref": ["DOID:7051", "GARD:0023816", "MEDGEN:232156", "NCIT:C7032", "UMLS:C1333443"]}
{"category": ["biolink:Disease"], "description": "Multiple meningiomas that affect the skull base.", "id": "MONDO:0004094", "name": "Multiple skull base meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7054", "GARD:0023817", "MEDGEN:233723", "NCIT:C5279", "UMLS:C1334829"]}
{"category": ["biolink:Disease"], "description": "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.", "id": "MONDO:0004095", "name": "B-cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["B-cell neoplasm"], "xref": ["DOID:707", "GARD:0005877", "MEDGEN:86953", "MESH:D016393", "NCIT:C27907", "UMLS:C0079731"]}
{"category": ["biolink:Disease"], "description": "A dermoid cyst that involves the spinal cord.", "id": "MONDO:0004096", "name": "Spinal cord dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dermoid cyst of spinal cord", "dermoid cyst of the spinal cord", "spinal cord dermoid", "spinal cord dermoid cyst"], "xref": ["DOID:7071", "GARD:0023818", "MEDGEN:232125", "NCIT:C6808", "UMLS:C1333278"]}
{"category": ["biolink:Disease"], "description": "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.", "id": "MONDO:0004098", "name": "Malignant melanocytic peripheral nerve sheath tumor of mediastinum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant mediastinal melanocytic peripheral nerve sheath tumor", "malignant mediastinal melanocytic peripheral nerve sheath tumour", "malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum", "malignant melanocytic peripheral nerve sheath tumor of mediastinum", "malignant melanotic peripheral nerve sheath tumor of the mediastinum", "malignant melanotic peripheral nerve sheath tumour of the mediastinum", "mediastinal melanocytic MPNST", "mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath"], "xref": ["DOID:7077", "GARD:0023819", "MEDGEN:233154", "NCIT:C6630", "UMLS:C1334600"]}
{"category": ["biolink:Disease"], "description": "A cystic teratoma that occurs in an adult.", "id": "MONDO:0004099", "name": "Adult cystic teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult cystic teratoma", "cystic teratoma of adults"], "xref": ["DOID:7079", "GARD:0023820", "MEDGEN:235084", "NCIT:C9012", "UMLS:C1368888"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.", "id": "MONDO:0004100", "name": "Lung mixed small cell and squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["combined small cell and squamous cell lung carcinoma", "mixed small cell and squamous cell carcinoma of the lung", "small cell and squamous cell carcinoma of lung", "small cell and squamous cell carcinoma of the lung", "small cell and squamous cell lung carcinoma"], "xref": ["DOID:7081", "GARD:0023821", "MEDGEN:235331", "NCIT:C9423", "UMLS:C1334788"]}
{"category": ["biolink:Disease"], "description": "A papillary carcinoma arising from the thyroid gland from multiple foci.", "id": "MONDO:0004101", "name": "Multicentric papillary thyroid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["multicentric papillary thyroid carcinoma", "multicentric papillary thyroid gland carcinoma", "multicentric thyroid gland papillary carcinoma"], "xref": ["DOID:7086", "GARD:0023822", "MEDGEN:235340", "NCIT:C37304", "UMLS:C1334817"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.", "id": "MONDO:0004102", "name": "Columnar cell variant thyroid gland papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["columnar cell variant papillary carcinoma", "columnar cell variant papillary thyroid gland carcinoma", "columnar cell variant thyroid gland papillary carcinoma"], "xref": ["DOID:7088", "GARD:0023823", "ICDO:8344/3", "MEDGEN:272499", "NCIT:C35830", "UMLS:C1333120"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.", "id": "MONDO:0004103", "name": "Tall cell variant thyroid gland papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tall cell variant papillary carcinoma", "tall cell variant thyroid gland papillary carcinoma"], "xref": ["DOID:7089", "GARD:0023824", "MEDGEN:234416", "NCIT:C35558", "UMLS:C1336695"]}
{"category": ["biolink:Disease"], "description": "A hairy cell leukemia that involves the spleen.", "id": "MONDO:0004104", "name": "Splenic manifestation of hairy cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spleen hairy cell leukaemia", "spleen hairy cell leukemia", "splenic manifestation of hairy cell leukemia"], "xref": ["DOID:709", "GARD:0023825", "ICD9:202.47", "MEDGEN:234812", "NCIT:C7301", "SCTID:93151007", "UMLS:C1336064"]}
{"category": ["biolink:Disease"], "description": "An epithelioid sarcoma occurring in childhood.", "id": "MONDO:0004105", "name": "Childhood epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood epithelioid sarcoma", "epithelioid sarcoma of childhood", "paediatric epithelioid sarcoma", "pediatric epithelioid sarcoma"], "xref": ["DOID:7095", "GARD:0023826", "MEDGEN:76055", "NCIT:C8095", "UMLS:C0279989"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.", "id": "MONDO:0004106", "name": "Testicular yolk sac tumor, macrocystic pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, macrocystic pattern"], "xref": ["DOID:7097", "GARD:0023827", "MEDGEN:271772", "NCIT:C39924", "UMLS:C1515307"]}
{"category": ["biolink:Disease"], "description": "A leukemia (disease) that involves the spleen.", "id": "MONDO:0004107", "name": "Splenic manifestation of leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leukaemia (disease) of spleen", "leukemia (disease) of spleen", "spleen leukaemia (disease)", "spleen leukemia (disease)", "splenic manifestation of leukemia"], "xref": ["DOID:710", "GARD:0023828", "MEDGEN:234813", "NCIT:C7296", "UMLS:C1336065"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the diaphragma sellae.", "id": "MONDO:0004108", "name": "Diaphragma sellae meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diaphragm sellae meningioma", "diaphragma sellae meningioma (disease)", "meningioma (disease) of diaphragma sellae", "meningioma of Diaphragma sellae", "meningioma of diaphragm sellae", "meningioma of the Diaphragma sellae", "meningioma of the diaphragm sellae"], "xref": ["DOID:7103", "GARD:0023829", "MEDGEN:234200", "NCIT:C5283", "UMLS:C1333283"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the epiglottis.", "id": "MONDO:0004109", "name": "Epiglottis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Epiglottis tumor", "Epiglottis tumour", "epiglottic neoplasm", "epiglottic tumor", "epiglottic tumour", "epiglottis neoplasm (disease)", "epiglottis tumor", "epiglottis tumour", "neoplasm of Epiglottis", "neoplasm of epiglottis", "neoplasm of the Epiglottis", "tumor of Epiglottis", "tumor of epiglottis", "tumor of the Epiglottis", "tumour of Epiglottis", "tumour of epiglottis", "tumour of the Epiglottis"], "xref": ["DOID:7105", "MEDGEN:266215", "NCIT:C4933", "SCTID:126699008", "UMLS:C1290353"]}
{"category": ["biolink:Disease"], "description": "Hairy cell leukemia that is resistant to treatment.", "id": "MONDO:0004110", "name": "Refractory hairy cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hairy cell leukemia, refractory", "refractory hairy cell leukemia"], "xref": ["DOID:711", "GARD:0023830", "MEDGEN:1639342", "NCIT:C8030", "UMLS:C4551546"]}
{"category": ["biolink:Disease"], "description": "A hematologic malignancy that is resistant to treatment.", "id": "MONDO:0004111", "name": "Refractory hematologic cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["refractory hematologic cancer", "refractory hematologic malignancy"], "xref": ["DOID:712", "GARD:0023831", "MEDGEN:233400", "NCIT:C27357", "UMLS:C1335724"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the bladder due to irradiation.", "id": "MONDO:0004112", "name": "Radiation cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["irradiation cystitis"], "xref": ["DOID:7127", "ICD10CM:N30.4", "ICD9:595.82", "MEDGEN:510221", "NCIT:C123174", "SCTID:11251000", "UMLS:C0156270"]}
{"category": ["biolink:Disease"], "description": "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.", "id": "MONDO:0004114", "name": "Urinary bladder small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCCB", "bladder small cell neuroendocrine cancer", "bladder small cell neuroendocrine carcinoma", "poorly differentiated neuroendocrine carcinoma of the bladder", "small cell bladder cancer", "small cell bladder carcinoma", "small cell carcinoma of the urinary bladder", "small cell carcinoma of urinary bladder", "small cell neuroendocrine carcinoma of the urinary bladder", "small cell neuroendocrine carcinoma of urinary bladder", "urinary bladder small cell carcinoma"], "xref": ["DOID:7132", "EFO:1000129", "GARD:0011923", "MEDGEN:231950", "NCIT:C9461", "ONCOTREE:SCBC", "Orphanet:284400", "UMLS:C1332564"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.", "id": "MONDO:0004116", "name": "Esophageal small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Oat cell carcinoma of esophagus", "Oat cell carcinoma of the esophagus", "Oat cell carcinoma of the oesophagus", "esophageal Oat cell carcinoma", "esophageal small cell NEC", "esophageal small cell carcinoma", "esophageal small cell neuroendocrine carcinoma", "esophagus Oat cell carcinoma", "esophagus small cell carcinoma", "oesophagus Oat cell carcinoma", "small cell carcinoma of esophagus", "small cell carcinoma of oesophagus", "small cell carcinoma of the esophagus", "small cell carcinoma of the oesophagus", "small cell carcinoma, esophagus", "small cell carcinoma, oesophagus"], "xref": ["DOID:7134", "GARD:0023832", "MEDGEN:207270", "NCIT:C6762", "UMLS:C1112474"]}
{"category": ["biolink:Disease"], "description": "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.", "id": "MONDO:0004117", "name": "Ampulla of vater small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ampulla of Vater small cell NEC", "ampulla of Vater small cell carcinoma", "ampulla of Vater small cell neuroendocrine carcinoma", "ampullary small cell carcinoma", "hepatopancreatic ampulla small cell carcinoma", "small cell neuroendocrine carcinoma of the ampullary region"], "xref": ["DOID:7136", "GARD:0023833", "MEDGEN:233974", "NCIT:C6655", "UMLS:C1332250"]}
{"category": ["biolink:Disease"], "description": "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.", "id": "MONDO:0004118", "name": "Cystitis cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7138", "ICD9:595.81", "MEDGEN:472898", "NCIT:C96230", "SCTID:13285005", "UMLS:C0152262"]}
{"category": ["biolink:Disease"], "description": "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.", "id": "MONDO:0004120", "name": "Bartholin gland small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Bartholin gland small cell carcinoma", "Bartholin's gland small cell carcinoma", "major vestibular gland small cell carcinoma", "small cell carcinoma of major vestibular gland"], "xref": ["DOID:7140", "GARD:0023834", "MEDGEN:267705", "NCIT:C40298", "UMLS:C1511051"]}
{"category": ["biolink:Disease"], "description": "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.", "id": "MONDO:0004122", "name": "Thymus small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus small cell carcinoma", "small cell carcinoma of Thymus", "small cell carcinoma of the Thymus", "small cell carcinoma of thymus", "thymic small cell carcinoma", "thymic small cell carcinoma neuroendocrine type", "thymus small cell carcinoma"], "xref": ["DOID:7142", "EFO:1000578", "GARD:0023835", "MEDGEN:234784", "NCIT:C6460", "UMLS:C1335980"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.", "id": "MONDO:0004124", "name": "Prostate stromal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate stromal sarcoma", "stromal sarcoma of prostate", "stromal sarcoma of the prostate"], "xref": ["DOID:7152", "GARD:0023836", "MEDGEN:233359", "NCIT:C5524", "UMLS:C1335521"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0004125", "name": "Rectum leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leiomyoma of rectum", "leiomyoma of the rectum", "rectal leiomyoma", "rectum leiomyoma"], "xref": ["DOID:7160", "MEDGEN:233390", "NCIT:C5552", "UMLS:C1335682"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.", "id": "MONDO:0004126", "name": "Thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of thyroid gland", "thyroid gland inflammation", "thyroiditis", "thyroiditis (disease)"], "xref": ["DOID:7166", "HP:0100646", "ICD10CM:E06", "ICD10WHO:E06", "ICD9:245", "ICD9:245.9", "MEDGEN:21548", "MESH:D013966", "NCIT:C26894", "SCTID:82119001", "UMLS:C0040147", "icd11.foundation:587793334"]}
{"category": ["biolink:Disease"], "description": "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.", "id": "MONDO:0004127", "name": "Lung occult adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["occult adenocarcinoma of the lung"], "xref": ["DOID:7168", "GARD:0023837", "MEDGEN:277443", "NCIT:C6699", "UMLS:C1335096"]}
{"category": ["biolink:Disease"], "description": "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.", "id": "MONDO:0004128", "name": "Lung occult large cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["occult large cell carcinoma of the lung"], "xref": ["DOID:7169", "MEDGEN:235399", "NCIT:C6685", "UMLS:C1335095"]}
{"category": ["biolink:Disease"], "description": "An anal carcinoma arising from the transitional zone of the anal canal.", "id": "MONDO:0004129", "name": "Cloacogenic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anal canal cloacogenic cancer", "anal canal cloacogenic carcinoma", "anal cloacogenic carcinoma", "cloacogenic anal carcinoma", "cloacogenic carcinoma", "cloacogenic carcinoma (morphologic abnormality)", "cloacogenic carcinoma of anus", "cloacogenic carcinoma of the anus"], "xref": ["DOID:7173", "GARD:0023838", "ICDO:8124/3", "MEDGEN:90755", "MESH:C563020", "NCIT:C8255", "UMLS:C0334273", "icd11.foundation:1771267581"]}
{"category": ["biolink:Disease"], "description": "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.", "id": "MONDO:0004130", "name": "Anus basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal basaloid carcinoma", "anus basaloid squamous cell carcinoma", "basaloid carcinoma of anus", "basaloid carcinoma of the anus"], "xref": ["DOID:7174", "GARD:0023839", "MEDGEN:79125", "NCIT:C8256", "UMLS:C0280470"]}
{"category": ["biolink:Disease"], "description": "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.", "id": "MONDO:0004131", "name": "Anal verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal Buschke-Lowenstein tumor", "anal Buschke-Lowenstein tumour", "anal giant (malignant) condyloma", "anal verrucous carcinoma"], "xref": ["DOID:7175", "GARD:0023840", "MEDGEN:231066", "NCIT:C7470", "UMLS:C1332278"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the mucosa of the anal canal.", "id": "MONDO:0004132", "name": "Anal canal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anal canal squamous cell carcinoma", "squamous cell carcinoma of the anal canal"], "xref": ["DOID:7177", "GARD:0021774", "MEDGEN:233979", "NCIT:C7469", "Orphanet:424019", "UMLS:C1332262", "icd11.foundation:585238371"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.", "id": "MONDO:0004133", "name": "Pituitary gland mixed eosinophil-basophil adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mixed acidophil-basophil adenoma", "mixed acidophil-basophil adenoma (morphologic abnormality)", "pituitary gland mixed acidophil-basophil adenoma"], "xref": ["DOID:7179", "GARD:0023841", "ICDO:8281/0", "MEDGEN:87215", "NCIT:C4148", "UMLS:C0334312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004134", "name": "Benign dermal neurilemmoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign dermal schwannoma", "benign neurilemmoma of skin", "benign neurilemmoma of the skin", "benign schwannoma of skin", "benign schwannoma of the skin", "benign skin neurilemmoma", "benign skin schwannoma"], "xref": ["DOID:7181", "MEDGEN:1810230", "NCIT:C5569", "UMLS:C5686033"]}
{"category": ["biolink:Disease"], "description": "Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.", "id": "MONDO:0004135", "name": "Subacute lymphocytic thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Subacute lymphocytic thyroiditis", "Subacute painless thyroiditis", "silent thyroiditis"], "xref": ["DOID:7187", "MEDGEN:266299", "NCIT:C35829", "SCTID:361126006", "UMLS:C1306804"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.", "id": "MONDO:0004136", "name": "Ovarian endometrioid cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian endometrioid cystadenoma"], "xref": ["DOID:7191", "MEDGEN:309509", "NCIT:C40075", "UMLS:C1518713"]}
{"category": ["biolink:Disease"], "description": "Anemia in which the red blood cell volume is normal.", "id": "MONDO:0004139", "name": "Normocytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaemia normocytic", "anemia normocytic", "normocytic Anaemia", "normocytic Anemia"], "xref": ["DOID:720", "ICD9:285.8", "MEDGEN:39310", "NCIT:C35142", "SCTID:300980002", "UMLS:C0085577"]}
{"category": ["biolink:Disease"], "description": "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.", "id": "MONDO:0004140", "name": "Intermediate malignant teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Intermediate immature teratoma", "malignant teratoma, intermediate", "malignant teratoma, intermediate (morphologic abnormality)"], "xref": ["DOID:7202", "GARD:0023842", "ICDO:9083/3", "MEDGEN:83161", "NCIT:C4288", "UMLS:C0334522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004141", "name": "Melanomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7206", "NCIT:C9499"]}
{"category": ["biolink:Disease"], "description": "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.", "id": "MONDO:0004142", "name": "Lung combined large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["combined large cell lung neuroendocrine carcinoma", "combined large cell neuroendocrine carcinoma of lung", "combined large cell neuroendocrine carcinoma of the lung", "pulmonary combined large cell neuroendocrine carcinoma"], "xref": ["DOID:7207", "GARD:0023843", "MEDGEN:232386", "NCIT:C7267", "UMLS:C1333122"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.", "id": "MONDO:0004143", "name": "Psammomatous meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["psammomatous meningioma (morphologic abnormality)"], "xref": ["DOID:7210", "GARD:0023844", "ICDO:9533/0", "MEDGEN:90815", "NCIT:C4331", "UMLS:C0334607"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.", "id": "MONDO:0004144", "name": "Fibrous meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fibroblastic meningioma", "fibrous meningioma (morphologic abnormality)"], "xref": ["DOID:7211", "GARD:0023845", "ICDO:9532/0", "MEDGEN:137789", "NCIT:C4330", "UMLS:C0334606"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.", "id": "MONDO:0004145", "name": "Meningothelial meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Meningotheliomatous meningioma", "meningothelial meningioma (morphologic abnormality)"], "xref": ["DOID:7212", "GARD:0023846", "ICDO:9531/0", "MEDGEN:90814", "NCIT:C4329", "UMLS:C0334605"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.", "id": "MONDO:0004146", "name": "Transitional meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mixed meningioma", "transitional (mixed) meningioma", "transitional meningioma (morphologic abnormality)"], "xref": ["DOID:7213", "GARD:0023847", "ICDO:9537/0", "MEDGEN:83174", "NCIT:C4333", "UMLS:C0334611"]}
{"category": ["biolink:Disease"], "description": "A morphologically malignant thymoma that is entirely confined within the capsule.", "id": "MONDO:0004147", "name": "Noninvasive malignant thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant thymoma, noninvasive", "thymoma malignant noninvasive"], "xref": ["DOID:7214", "GARD:0023848", "MEDGEN:78893", "NCIT:C9080", "UMLS:C0278847"]}
{"category": ["biolink:Disease"], "description": "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.", "id": "MONDO:0004148", "name": "Gallbladder papillary neoplasm with an associated invasive carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder papillary carcinoma", "gallbladder papillary neoplasm with an associated invasive cancer", "gallbladder papillary neoplasm with an associated invasive carcinoma", "intracystic papillary neoplasm with an associated invasive carcinoma", "papillary carcinoma of gallbladder", "papillary carcinoma of the gallbladder"], "xref": ["DOID:7221", "GARD:0023849", "ICDO:8503/3", "MEDGEN:232226", "NCIT:C5743", "UMLS:C1333753"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004149", "name": "Gallbladder pleomorphic giant cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7222", "GARD:0023850"]}
{"category": ["biolink:Disease"], "description": "A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.", "id": "MONDO:0004150", "name": "Breast giant fibroadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["breast giant fibroadenoma", "giant adenofibroma of the breast", "giant breast fibroadenoma", "giant fibroadenoma", "giant fibroadenoma of breast", "giant fibroadenoma of the breast"], "xref": ["DOID:7223", "GARD:0020206", "ICDO:9016/0", "MEDGEN:138039", "NCIT:C4273", "Orphanet:180267", "SCTID:254846003", "UMLS:C0346157"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the meninx of spinal cord.", "id": "MONDO:0004151", "name": "Spinal meninges cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of meninx of spinal cord", "malignant meninx of spinal cord neoplasm", "malignant neoplasm of meninx of spinal cord", "malignant neoplasm of spinal meninges", "meninx of spinal cord cancer"], "xref": ["DOID:7224", "GARD:0023851", "ICD10CM:C70.1", "ICD9:192.3", "MEDGEN:509351", "NCIT:C194412", "SCTID:363476006", "UMLS:C0153647", "icd11.foundation:1701274048"]}
{"category": ["biolink:Disease"], "description": "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.", "id": "MONDO:0004152", "name": "Chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CLL/SLL with IGVH SHM", "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation", "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma", "postgerminal centre chronic lymphocytic leukemia/small lymphocytic lymphoma"], "xref": ["DOID:7230", "GARD:0023852", "MEDGEN:232076", "NCIT:C37201", "UMLS:C1333037"]}
{"category": ["biolink:Disease"], "description": "An embryonal carcinoma that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0004153", "name": "Childhood central nervous system embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood CNS embryonal cell carcinoma", "childhood central nervous system embryonal carcinoma", "childhood embryonal carcinoma of the central nervous system", "embryonal carcinoma of childhood CNS", "embryonal carcinoma of childhood central nervous system", "embryonal carcinoma of paediatric central nervous system", "embryonal carcinoma of pediatric CNS", "embryonal carcinoma of pediatric central nervous system", "embryonal carcinoma of the central nervous system of childhood", "embryonal carcinoma of the childhood CNS", "embryonal carcinoma of the childhood central nervous system", "embryonal carcinoma of the paediatric CNS", "embryonal carcinoma of the paediatric central nervous system", "embryonal carcinoma of the pediatric CNS", "embryonal carcinoma of the pediatric central nervous system", "paediatric central nervous system embryonal carcinoma", "paediatric embryonal carcinoma of the central nervous system", "pediatric central nervous system embryonal carcinoma", "pediatric embryonal carcinoma of the central nervous system"], "xref": ["DOID:7231", "GARD:0023853", "MEDGEN:277988", "NCIT:C6208", "UMLS:C1377605"]}
{"category": ["biolink:Disease"], "description": "A embryonal carcinoma of the central nervous system that occurs in an adult.", "id": "MONDO:0004155", "name": "Adult central nervous system embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult CNS embryonal carcinoma", "adult central nervous system embryonal carcinoma", "adult embryonal carcinoma of the central nervous system", "embryonal carcinoma of adult CNS", "embryonal carcinoma of adult central nervous system", "embryonal carcinoma of the adult CNS", "embryonal carcinoma of the adult central nervous system", "embryonal carcinoma of the central nervous system of adults"], "xref": ["DOID:7233", "GARD:0023854", "MEDGEN:234580", "NCIT:C5790", "UMLS:C1370503"]}
{"category": ["biolink:Disease"], "description": "A mucinous cystadenocarcinoma that involves the pancreas.", "id": "MONDO:0004156", "name": "Pancreatic mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colloid Cystadencarcinoma of pancreas", "colloid Cystadencarcinoma of the pancreas", "colloidal Cystadencarcinoma of pancreas", "colloidal Cystadencarcinoma of the pancreas", "mucinous Cystadencarcinoma of pancreas", "mucinous Cystadencarcinoma of the pancreas", "pancreatic colloid Cystadencarcinoma", "pancreatic colloidal Cystadencarcinoma"], "xref": ["DOID:7234", "GARD:0027663", "MEDGEN:1433902", "NCIT:C5713", "UMLS:C2063873"]}
{"category": ["biolink:Disease"], "description": "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.", "id": "MONDO:0004158", "name": "Pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic mucinous cystic neoplasm with an associated invasive carcinoma", "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma"], "xref": ["DOID:7236", "GARD:0027664", "ICDO:8470/3", "MEDGEN:309550", "NCIT:C41246", "UMLS:C1518870"]}
{"category": ["biolink:Disease"], "description": "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.", "id": "MONDO:0004159", "name": "Pancreatic non-invasive mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7237", "GARD:0027665", "ICDO:8470/2", "MEDGEN:690092", "NCIT:C41245", "UMLS:C1266078"]}
{"category": ["biolink:Disease"], "description": "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.", "id": "MONDO:0004160", "name": "Female stress incontinence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:724", "ICD9:625.6", "MEDGEN:21346", "NCIT:C35042", "UMLS:C0038437"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.", "id": "MONDO:0004161", "name": "Uterine corpus apoplectic leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["uterine corpus hemorrhagic cellular leiomyoma", "uterine corpus leiomyoma with apoplectic change"], "xref": ["DOID:7241", "GARD:0023855", "MEDGEN:274364", "NCIT:C40165", "UMLS:C1519852"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.", "id": "MONDO:0004162", "name": "Uterine corpus cellular leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus cellular leiomyoma", "cellular leiomyoma of body of uterus", "uterine corpus cellular leiomyoma"], "xref": ["DOID:7242", "GARD:0023856", "MEDGEN:276938", "NCIT:C40163", "UMLS:C1519845"]}
{"category": ["biolink:Disease"], "description": "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.", "id": "MONDO:0004163", "name": "Bladder urachal urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bladder urachal urothelial carcinoma"], "xref": ["DOID:7244", "GARD:0023857", "MEDGEN:267744", "NCIT:C39844", "UMLS:C1511207"]}
{"category": ["biolink:Disease"], "description": "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.", "id": "MONDO:0004164", "name": "Lymphoepithelioma-like acinar prostate adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acinar prostate adenocarcinoma, lymphoepithelioma-like variant"], "xref": ["DOID:7246", "GARD:0027666", "MEDGEN:1834954", "NCIT:C39885", "UMLS:C5787176"]}
{"category": ["biolink:Disease"], "description": "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.", "id": "MONDO:0004165", "name": "Selective igd deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["selective IgD immunodeficiency"], "xref": ["DOID:7263", "GARD:0023858", "ICD9:279.03", "MEDGEN:96021", "NCIT:C27144", "SCTID:234541006", "UMLS:C0398695"]}
{"category": ["biolink:Disease"], "description": "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.", "id": "MONDO:0004166", "name": "Hereditary fallopian tube carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["familial fallopian tube carcinoma", "hereditary fallopian tube cancer", "hereditary fallopian tube carcinoma"], "xref": ["DOID:7266", "GARD:0023859", "MEDGEN:307556", "NCIT:C40455", "UMLS:C1512418"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.", "id": "MONDO:0004168", "name": "Cribriform variant testicular seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["testicular seminoma, cribriform variant"], "xref": ["DOID:7269", "GARD:0023860", "MEDGEN:308258", "NCIT:C40957", "UMLS:C1515292"]}
{"category": ["biolink:Disease"], "description": "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.", "id": "MONDO:0004169", "name": "Premenstrual tension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PMS", "premenstrual syndrome"], "xref": ["DOID:727", "MEDGEN:87683", "MESH:D011293", "UMLS:C0376356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004170", "name": "Nodular episcleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:728", "ICD10CM:H15.12", "ICD9:379.02", "MEDGEN:509927", "SCTID:70558001", "UMLS:C0155352", "icd11.foundation:134477595"]}
{"category": ["biolink:Disease"], "description": "A adenocarcinofibroma that involves the body of uterus.", "id": "MONDO:0004172", "name": "Uterine corpus adenocarcinofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinofibroma of body of uterus", "body of uterus adenocarcinofibroma"], "xref": ["DOID:7281", "GARD:0023861"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.", "id": "MONDO:0004173", "name": "Adenocarcinoma of skene gland origin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoma of Skene gland", "adenocarcinoma of Skene gland origin", "carcinoma of Skene gland", "carcinoma of Skene's gland", "carcinoma of paraurethral gland", "paraurethral gland adenocarcinoma", "paraurethral gland carcinoma"], "xref": ["DOID:7284", "GARD:0023862", "MEDGEN:282906", "NCIT:C39863", "UMLS:C1527427"]}
{"category": ["biolink:Disease"], "description": "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.", "id": "MONDO:0004174", "name": "Secretory uterine corpus endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrial endometrioid adenocarcinoma, secretory variant", "secretory uterine corpus endometrioid adenocarcinoma"], "xref": ["DOID:7289", "ICDO:8382/3", "MEDGEN:690079", "NCIT:C27839", "UMLS:C1266057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004175", "name": "Mucin-rich endometrial endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7293", "MEDGEN:269340", "NCIT:C8717", "UMLS:C1513711"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the soft tissue, and occurring during childhood.", "id": "MONDO:0004176", "name": "Childhood extraosseous osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood extraosseous osteosarcoma", "childhood extraskeletal osteosarcoma", "extraosseous osteosarcoma of childhood", "paediatric extraosseous osteosarcoma", "paediatric extraskeletal osteosarcoma", "pediatric extraosseous osteosarcoma", "pediatric extraskeletal osteosarcoma"], "xref": ["DOID:7297", "GARD:0023863", "MEDGEN:232060", "NCIT:C27376", "UMLS:C1332968"]}
{"category": ["biolink:Disease"], "description": "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.", "id": "MONDO:0004177", "name": "Benign urethral neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the urethra", "benign neoplasm of urethra", "benign tumor of the urethra", "benign tumor of urethra", "benign tumour of the urethra", "benign tumour of urethra", "benign urethra neoplasm", "benign urethra tumor", "benign urethra tumour", "benign urethral neoplasm", "benign urethral tumor", "benign urethral tumour", "urethra benign neoplasm"], "xref": ["DOID:730", "ICD10CM:D30.4", "ICD9:223.81", "MEDGEN:57812", "NCIT:C3619", "SCTID:92466006", "UMLS:C0154019"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.", "id": "MONDO:0004178", "name": "Testicular yolk sac tumor, endodermal sinus pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, endodermal sinus pattern"], "xref": ["DOID:7302", "GARD:0023864", "MEDGEN:273636", "NCIT:C39927", "UMLS:C1515303"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.", "id": "MONDO:0004180", "name": "Benign urinary system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the urinary tract", "benign neoplasm of urinary tract", "benign tumor of the urinary tract", "benign tumor of urinary tract", "benign tumour of the urinary tract", "benign tumour of urinary tract", "benign urinary system neoplasm", "benign urinary tract neoplasm", "benign urinary tract tumor", "benign urinary tract tumour", "renal system benign neoplasm"], "xref": ["DOID:731", "ICD9:223.89", "ICD9:223.9", "MEDGEN:146348", "MESH:D014571", "NCIT:C192667", "NCIT:C4893", "SCTID:92468007", "UMLS:C0686167"]}
{"category": ["biolink:Disease"], "description": "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.", "id": "MONDO:0004181", "name": "Breast adenomyoepithelial adenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7312", "MEDGEN:267759", "NCIT:C40391", "UMLS:C1511283"]}
{"category": ["biolink:Disease"], "description": "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.", "id": "MONDO:0004182", "name": "Stage ivb bladder cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Jewett-Marshall stage D2 bladder cancer", "Jewett-Marshall stage D2 urinary bladder cancer", "Jewett-Marshall stage D2 urinary bladder carcinoma", "stage IVB bladder cancer", "stage IVB urinary bladder cancer", "stage IVB urinary bladder carcinoma"], "xref": ["DOID:7315", "MEDGEN:277737", "NCIT:C9368", "UMLS:C1336362"]}
{"category": ["biolink:Disease"], "description": "Any nerve disorder affecting the axon of a nerve.", "id": "MONDO:0004183", "name": "Axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["axon peripheral neuropathy", "axonal neuropathy", "peripheral neuropathy of axon"], "xref": ["DOID:7319", "GARD:0023865", "MEDGEN:266071", "NCIT:C27301", "SCTID:60703000", "UMLS:C1263857"]}
{"category": ["biolink:Disease"], "description": "A disease involving the urethra.", "id": "MONDO:0004184", "name": "Urethral disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of urethra", "disease or disorder of urethra", "disorder of urethra", "urethra disease", "urethra disease or disorder", "urethra disorder"], "xref": ["DOID:732", "EFO:0009689", "MEDGEN:22569", "MESH:D014522", "NCIT:C26903", "SCTID:4985009", "UMLS:C0041969"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.", "id": "MONDO:0004185", "name": "Ovarian serous cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian serous cystadenofibroma", "ovary serous cystadenofibroma"], "xref": ["DOID:7320", "MEDGEN:167919", "NCIT:C40032", "UMLS:C0877572"]}
{"category": ["biolink:Disease"], "description": "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.", "id": "MONDO:0004186", "name": "Cranial nodular fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cranial nodular fasciitis", "cranial pseudosarcomatous fasciitis"], "xref": ["DOID:7326", "GARD:0023866", "MEDGEN:272511", "NCIT:C27248", "UMLS:C1333162"]}
{"category": ["biolink:Disease"], "description": "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.", "id": "MONDO:0004187", "name": "Nodular fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nodular fasciitis", "pseudosarcomatous fasciitis", "pseudosarcomatous fibromatosis"], "xref": ["DOID:7327", "GARD:0021959", "ICD10CM:M72.4", "ICD9:728.79", "MEDGEN:96076", "NCIT:C3827", "Orphanet:477742", "SCTID:400138001", "UMLS:C0410005", "icd11.foundation:789101380"]}
{"category": ["biolink:Disease"], "description": "A spindle cell melanoma that involves the iris.", "id": "MONDO:0004188", "name": "Iris spindle cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iris spindle cell melanoma", "spindle cell melanoma of iris", "spindle cell melanoma of the iris"], "xref": ["DOID:7328", "GARD:0023867", "MEDGEN:232672", "NCIT:C6098", "UMLS:C1334287"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that involves the esophagus.", "id": "MONDO:0004189", "name": "Esophageal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophagus tuberculosis", "oesophagus tuberculosis", "tuberculosis of oesophagus"], "xref": ["DOID:7332", "GARD:0023868", "ICD9:017.8", "ICD9:017.80", "ICD9:017.81", "ICD9:017.83", "MEDGEN:509082", "SCTID:15284007", "UMLS:C0152902", "icd11.foundation:957834829"]}
{"category": ["biolink:Disease"], "description": "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.", "id": "MONDO:0004190", "name": "Nephrogenic adenoma of urinary bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nephrogenic adenoma of the urinary bladder", "urinary bladder nephrogenic adenoma"], "xref": ["DOID:7333", "MEDGEN:234976", "NCIT:C7415", "UMLS:C1336892"]}
{"category": ["biolink:Disease"], "description": "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.", "id": "MONDO:0004191", "name": "Nephrogenic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nephrogenic adenoma"], "xref": ["DOID:7334", "MEDGEN:452429", "NCIT:C7413", "UMLS:C0334039"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the urethra", "id": "MONDO:0004192", "name": "Urethra cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of urethra", "malignant neoplasm of the urethra", "malignant neoplasm of urethra", "malignant tumor of the urethra", "malignant tumor of urethra", "malignant tumour of the urethra", "malignant urethra neoplasm", "malignant urethra tumor", "malignant urethra tumour", "malignant urethral neoplasm", "malignant urethral tumor", "malignant urethral tumour", "urethra cancer"], "xref": ["DOID:734", "GARD:0009390", "ICD10CM:C68.0", "ICD9:189.3", "MEDGEN:57565", "NCIT:C7507", "ONCOTREE:UCA", "SCTID:363459007", "UMLS:C0153620", "icd11.foundation:1707814375"]}
{"category": ["biolink:Disease"], "description": "A dysgerminoma that arises from the ovary and occurs in children.", "id": "MONDO:0004193", "name": "Pediatric ovarian dysgerminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood dysgerminoma", "childhood dysgerminoma of ovary", "childhood ovarian dysgerminoma", "childhood ovarian germinomatous germ cell tumor", "childhood ovarian germinomatous germ cell tumour", "dysgerminoma of ovary of childhood", "paediatric dysgerminoma of ovary", "pediatric dysgerminoma of ovary"], "xref": ["DOID:7340", "GARD:0023869", "MEDGEN:272465", "NCIT:C6550", "UMLS:C1332988"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.", "id": "MONDO:0004194", "name": "Ovarian stromal hyperthecosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7347", "MEDGEN:309519", "NCIT:C40446", "UMLS:C1518743"]}
{"category": ["biolink:Disease"], "description": "The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.", "id": "MONDO:0004195", "name": "Thymic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7350", "GARD:0023870", "MEDGEN:231314", "NCIT:C27802", "UMLS:C1331541"]}
{"category": ["biolink:Disease"], "description": "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.", "id": "MONDO:0004196", "name": "Rectal sarcomatoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rectal sarcomatoid cancer", "rectal sarcomatoid carcinoma", "rectal spindle cell carcinoma", "rectum sarcomatoid carcinoma", "sarcomatoid carcinoma of rectum", "sarcomatoid carcinoma of the rectum"], "xref": ["DOID:7356", "MEDGEN:235533", "NCIT:C5556", "UMLS:C1335689"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a male urethra.", "id": "MONDO:0004197", "name": "Male urethral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Male urethral malignant neoplasm", "cancer of male urethra", "male urethra cancer", "malignant male urethra neoplasm", "malignant neoplasm of male urethra"], "xref": ["DOID:736", "GARD:0027667", "MEDGEN:273546", "NCIT:C39867", "UMLS:C1518164"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.", "id": "MONDO:0004198", "name": "Testicular yolk sac tumor, solid pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, solid pattern"], "xref": ["DOID:7360", "GARD:0023871", "MEDGEN:308263", "NCIT:C39925", "UMLS:C1515312"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.", "id": "MONDO:0004199", "name": "Vulvar keratinizing squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vulvar keratinizing squamous cell carcinoma"], "xref": ["DOID:7363", "GARD:0023872", "MEDGEN:378346", "NCIT:C40284", "UMLS:C2109334"]}
{"category": ["biolink:Disease"], "description": "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.", "id": "MONDO:0004200", "name": "Superficial urinary bladder carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["superficial bladder cancer", "superficial bladder carcinoma", "superficial urinary bladder cancer", "superficial urinary bladder carcinoma"], "xref": ["DOID:7371", "MEDGEN:234371", "NCIT:C27474", "SCTID:425231005", "UMLS:C1336527"]}
{"category": ["biolink:Disease"], "description": "Incomplete development of the pituitary gland.", "id": "MONDO:0004201", "name": "Pituitary hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pituitary hypoplasia"], "xref": ["DOID:7378", "MEDGEN:215300", "NCIT:C27343", "UMLS:C0948740"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the adrenal medulla", "id": "MONDO:0004202", "name": "Adrenal medulla carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adrenal medulla carcinoma", "carcinoma of adrenal medulla"], "xref": ["DOID:7379", "GARD:0023873"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the female urethra.", "id": "MONDO:0004203", "name": "Female urethral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of female urethra", "female urethra cancer", "female urethral malignant neoplasm", "malignant female urethra neoplasm", "malignant neoplasm of female urethra"], "xref": ["DOID:738", "GARD:0027668", "MEDGEN:273303", "NCIT:C39866", "UMLS:C1517154"]}
{"category": ["biolink:Disease"], "description": "A squamous papilloma that involves the zone of skin.", "id": "MONDO:0004204", "name": "Squamous cell skin papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dyskeratotic papilloma of skin", "Dyskeratotic papilloma of the skin", "Dyskeratotic skin papilloma", "hyperkeratotic papilloma of skin", "hyperkeratotic papilloma of the skin", "hyperkeratotic skin papilloma", "parakeratotic papilloma of skin", "parakeratotic papilloma of the skin", "squamous cell papilloma of the skin", "squamous cell skin papilloma", "zone of skin squamous papilloma"], "xref": ["DOID:7380", "MEDGEN:83397", "NCIT:C4462", "SCTID:254661000", "UMLS:C0345983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004205", "name": "Lymphohistiocytoid mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7381", "GARD:0023874", "MEDGEN:235269", "NCIT:C27779", "UMLS:C1334464"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0004206", "name": "Pulmonary vein leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of pulmonary vein", "leiomyosarcoma of the pulmonary vein", "pulmonary vein leiomyosarcoma"], "xref": ["DOID:7388", "GARD:0023875", "MEDGEN:235513", "NCIT:C5374", "UMLS:C1335575"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0004207", "name": "Pulmonary artery leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["leiomyosarcoma of pulmonary artery", "leiomyosarcoma of the pulmonary artery", "pulmonary artery leiomyosarcoma"], "xref": ["DOID:7389", "GARD:0023876", "MEDGEN:233372", "NCIT:C5373", "UMLS:C1335572"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0004208", "name": "Superior vena cava leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anterior vena cava leiomyosarcoma", "leiomyosarcoma of Superior vena cava", "leiomyosarcoma of anterior vena cava", "leiomyosarcoma of the Superior vena cava"], "xref": ["DOID:7390", "GARD:0023877", "MEDGEN:236963", "NCIT:C6745", "UMLS:C1336531"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.", "id": "MONDO:0004209", "name": "Cerebral primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PNET of cerebral hemispheres", "PNET of cerebrum", "PNET of the cerebral hemispheres", "PNET of the cerebrum", "cerebral PNET", "cerebral hemisphere PNET", "cerebral hemisphere primitive neuroectodermal neoplasm", "cerebral hemisphere primitive neuroectodermal tumor", "cerebral hemisphere primitive neuroectodermal tumour", "cerebral primitive neuroectodermal neoplasm", "cerebral primitive neuroectodermal tumor", "primitive neuroectodermal neoplasm of cerebral hemispheres", "primitive neuroectodermal neoplasm of cerebrum", "primitive neuroectodermal neoplasm of the cerebral hemispheres", "primitive neuroectodermal neoplasm of the cerebrum", "primitive neuroectodermal tumor of cerebral hemispheres", "primitive neuroectodermal tumor of cerebrum", "primitive neuroectodermal tumor of the cerebral hemispheres", "primitive neuroectodermal tumor of the cerebrum", "primitive neuroectodermal tumour of cerebral hemispheres", "primitive neuroectodermal tumour of cerebrum", "primitive neuroectodermal tumour of the cerebral hemispheres", "primitive neuroectodermal tumour of the cerebrum"], "xref": ["DOID:7398", "GARD:0027669", "MEDGEN:155905", "NCIT:C4970", "UMLS:C0751675"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.", "id": "MONDO:0004210", "name": "Colonic l-cell glucagon-like peptide producing tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["L-cell glucagon-like peptide-producing neuroendocrine tumor of colon", "L-cell glucagon-like peptide-producing neuroendocrine tumour of colon", "colon L-cell glucagon-like peptide-producing NET", "colon L-cell glucagon-like peptide-producing neuroendocrine tumor", "colon L-cell glucagon-like peptide-producing neuroendocrine tumour", "colonic L-cell glucagon-like peptide-producing neuroendocrine tumor", "colonic L-cell glucagon-like peptide-producing neuroendocrine tumour"], "xref": ["DOID:7401", "GARD:0023878", "MEDGEN:475772", "NCIT:C27447", "UMLS:C3274139"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.", "id": "MONDO:0004211", "name": "L-cell glucagon-like peptide-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["L-cell glucagon-like peptide-producing NET", "L-cell glucagon-like peptide-producing neuroendocrine tumor"], "xref": ["DOID:7402", "GARD:0023879", "ICDO:8152/1", "MEDGEN:475773", "NCIT:C27448", "UMLS:C3274140"]}
{"category": ["biolink:Disease"], "description": "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.", "id": "MONDO:0004212", "name": "Vulvar keratoacanthoma-like carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vulvar squamous cell carcinoma, keratoacanthoma type"], "xref": ["DOID:7408", "GARD:0023880", "NCIT:C40288"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.", "id": "MONDO:0004213", "name": "Vulvar non-keratinizing squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7409", "GARD:0023881", "MEDGEN:311488", "NCIT:C40285", "UMLS:C1520092"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.", "id": "MONDO:0004214", "name": "Ovarian endometrioid cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian endometrioid cystadenofibroma"], "xref": ["DOID:7411", "MEDGEN:233272", "NCIT:C27288", "UMLS:C1335158"]}
{"category": ["biolink:Disease"], "description": "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.", "id": "MONDO:0004215", "name": "Cutaneous anthrax", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7426", "GARD:0027670", "ICD10CM:A22.0", "ICD9:022.0", "MEDGEN:1959", "MESH:C531621", "SCTID:84980006", "UMLS:C0003177", "icd11.foundation:2057984300"]}
{"category": ["biolink:Disease"], "description": "A germinoma that arises from the pineal gland.", "id": "MONDO:0004216", "name": "Pineal region germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["pineal germinoma"], "xref": ["DOID:7428", "GARD:0019162", "MEDGEN:208928", "NCIT:C8712", "Orphanet:91352", "UMLS:C0854912"]}
{"category": ["biolink:Disease"], "description": "A germinoma arising from the brain during childhood.", "id": "MONDO:0004217", "name": "Childhood brain germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain germinoma of childhood", "germinoma of childhood brain", "germinoma of paediatric brain", "germinoma of pediatric brain", "germinoma of the childhood brain", "germinoma of the paediatric brain", "germinoma of the pediatric brain", "paediatric brain germ cell cancer", "paediatric brain germinoma", "pediatric brain germ cell cancer", "pediatric brain germinoma"], "xref": ["DOID:7429", "GARD:0023882", "MEDGEN:272458", "NCIT:C6207", "UMLS:C1332948"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor arising from brain during childhood.", "id": "MONDO:0004218", "name": "Childhood germ cell brain tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Brain germ cell tumor", "Brain germ cell tumour", "childhood brain germ cell neoplasm", "childhood brain germ cell tumor", "childhood brain germ cell tumour", "childhood germ cell brain neoplasm", "germ cell neoplasm of childhood brain", "germ cell neoplasm of paediatric brain", "germ cell neoplasm of pediatric brain", "germ cell neoplasm of the childhood brain", "germ cell neoplasm of the pediatric brain", "germ cell tumor of childhood brain", "germ cell tumor of pediatric brain", "germ cell tumor of the childhood brain", "germ cell tumor of the pediatric brain", "germ cell tumour of childhood brain", "germ cell tumour of paediatric brain", "germ cell tumour of the childhood brain", "germ cell tumour of the paediatric brain", "paediatric brain germ cell neoplasm", "paediatric brain germ cell tumour", "pediatric brain germ cell neoplasm", "pediatric brain germ cell tumor"], "xref": ["DOID:7430", "GARD:0023883", "MEDGEN:277987", "NANDO:2200108", "NCIT:C5795", "UMLS:C1377598"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.", "id": "MONDO:0004219", "name": "Polyvesicular vitelline pattern testicular yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7435", "GARD:0023884", "MEDGEN:273638", "NCIT:C39930", "UMLS:C1515311"]}
{"category": ["biolink:Disease"], "description": "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.", "id": "MONDO:0004220", "name": "Endometrial endometrioid adenocarcinoma with spindled epithelial cells", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrial endometrioid adenocarcinoma with spindled epithelial cells", "sarcomatoid uterine corpus endometrioid adenocarcinoma"], "xref": ["DOID:7436", "MEDGEN:234979", "NCIT:C27850", "UMLS:C1336913"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.", "id": "MONDO:0004221", "name": "Uterine corpus perivascular epithelioid cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus neoplasm with perivascular epithelioid cell differentiation", "uterine corpus PEComa", "uterine corpus perivascular epithelioid cell tumor"], "xref": ["DOID:7437", "GARD:0023885", "MEDGEN:276940", "NCIT:C40180", "ONCOTREE:UPECOMA", "UMLS:C1519862"]}
{"category": ["biolink:Disease"], "description": "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.", "id": "MONDO:0004222", "name": "Ovarian clear cell cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian clear cell cystadenocarcinoma"], "xref": ["DOID:7438", "GARD:0023886", "MEDGEN:76012", "NCIT:C7980", "UMLS:C0279667"]}
{"category": ["biolink:Disease"], "description": "A benign polypoid growth in the middle ear.", "id": "MONDO:0004223", "name": "Polyp of middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["middle Ear polyp", "middle ear polyp", "polyp of the middle ear"], "xref": ["DOID:7439", "ICD10CM:H74.4", "MEDGEN:124403", "NCIT:C6933", "SCTID:73103007", "UMLS:C0271466", "icd11.foundation:116272899"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004224", "name": "Chronic metabolic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chronic metabolic polyneuropathy"], "xref": ["DOID:7441", "GARD:0023887", "MEDGEN:272482", "NCIT:C35602", "UMLS:C1333042"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.", "id": "MONDO:0004225", "name": "Monoclonal gammopathy of uncertain significance", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MGUS", "benign monoclonal gammopathy", "monoclonal gammopathy Of undetermined significance (MGUS)", "monoclonal gammopathy of undetermined significance", "monoclonal gammopathy of undetermined significance (MGUS)", "monoclonal gammopathy of undetermined significance (morphologic abnormality)", "monoclonal gammopathy of unknown significance", "monoclonal gammopathy, benign"], "xref": ["DOID:7442", "GARD:0007034", "ICD9:238.6", "ICDO:9765/1", "MEDGEN:44485", "MESH:D008998", "NCIT:C3996", "ONCOTREE:MGUS", "SCTID:277577000", "SCTID:58648008", "UMLS:C0026470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004226", "name": "Diffuse intraductal papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diffuse intraductal papillomatosis"], "xref": ["DOID:7444", "MEDGEN:235123", "NCIT:C7364", "UMLS:C1377912"]}
{"category": ["biolink:Disease"], "description": "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.", "id": "MONDO:0004227", "name": "Epididymal adenomatoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenomatoid neoplasm of epididymis", "adenomatoid neoplasm of the epididymis", "adenomatoid tumor of epididymis", "adenomatoid tumor of the epididymis", "adenomatoid tumour of epididymis", "adenomatoid tumour of the epididymis", "epididymal adenomatoid tumor", "epididymis adenomatoid tumor", "epididymis adenomatoid tumour"], "xref": ["DOID:745", "MEDGEN:232460", "NCIT:C6382", "SCTID:449052009", "UMLS:C1333415"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.", "id": "MONDO:0004229", "name": "Acantholytic variant squamous cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["squamous cell breast carcinoma, acantholytic variant"], "xref": ["DOID:7459", "GARD:0023888", "MEDGEN:274268", "NCIT:C40359", "UMLS:C1519485"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.", "id": "MONDO:0004230", "name": "Adenomatoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenomatoid tumor", "adenomatoid tumor (morphologic abnormality)", "adenomatoid tumor NOS (morphologic abnormality)", "adenomatoid tumor, benign", "adenomatoid tumour (morphologic abnormality)", "adenomatoid tumour NOS (morphologic abnormality)", "benign localized epithelial mesothelioma"], "xref": ["DOID:746", "ICDO:9050/0", "ICDO:9052/0", "ICDO:9054/0", "MEDGEN:60207", "MESH:D018254", "NCIT:C3762", "UMLS:C0206675"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.", "id": "MONDO:0004231", "name": "Spindle cell variant squamous cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["squamous cell breast carcinoma, spindle cell variant"], "xref": ["DOID:7460", "GARD:0023889", "MEDGEN:274270", "NCIT:C40358", "ONCOTREE:MASCC", "UMLS:C1519487"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.", "id": "MONDO:0004232", "name": "Large cell keratinizing variant squamous cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["squamous cell breast carcinoma, large cell keratinizing variant"], "xref": ["DOID:7461", "GARD:0023890", "MEDGEN:274269", "NCIT:C40357", "UMLS:C1519486"]}
{"category": ["biolink:Disease"], "description": "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.", "id": "MONDO:0004233", "name": "Childhood pleomorphic rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood anaplastic rhabdomyosarcoma", "paediatric pleomorphic rhabdomyosarcoma", "pediatric pleomorphic rhabdomyosarcoma", "pleomorphic childhood rhabdomyosarcoma", "pleomorphic rhabdomyosarcoma of childhood"], "xref": ["DOID:7463", "GARD:0023891", "MEDGEN:76002", "NCIT:C7959", "UMLS:C0279614"]}
{"category": ["biolink:Disease"], "description": "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.", "id": "MONDO:0004234", "name": "Chronic lymphoproliferative disorder of nk-cells", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CLPD-NK", "CNKL", "NK-LGL leukaemia", "NK-LGL leukemia", "NK-LGLL", "NK-cell large granular lymphocyte lymphocytosis", "NK-cell lineage granular lymphocyte proliferative disorder", "NK-type lymphoproliferative disorder of granular lymphocytes", "chronic NK lymphocytosis", "chronic NK-LGL lymphoproliferative disorder", "chronic NK-cell lymphocytosis", "chronic NK-large granular lymphocyte lymphoproliferative disorder", "chronic lymphoproliferative disorder of NK-cells", "indolent NK-cell lymphoproliferative disorder", "indolent large granular NK-cell lymphoproliferative disorder", "natural killer-cell large granular lymphocyte leukaemia", "natural killer-cell large granular lymphocyte leukemia"], "xref": ["DOID:7465", "GARD:0022072", "ICDO:9831/3", "MEDGEN:268922", "NCIT:C39591", "Orphanet:512017", "SCTID:722955006", "UMLS:C1512709", "icd11.foundation:921755282"]}
{"category": ["biolink:Disease"], "description": "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.", "id": "MONDO:0004235", "name": "Diverticulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["digestive tract diverticulum inflammation", "inflammation of digestive tract diverticulum"], "xref": ["DOID:7475", "EFO:1001460", "MEDGEN:41629", "MESH:D004238", "NCIT:C26752", "SCTID:307496006", "UMLS:C0012813"]}
{"category": ["biolink:Disease"], "description": "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.", "id": "MONDO:0004236", "name": "Duodenal somatostatinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["duodenal delta cell somatostatin producing tumour", "duodenal somatostatin producing tumor", "duodenal somatostatin producing tumour", "duodenal somatostatin-producing NET", "duodenal somatostatin-producing neuroendocrine tumor", "duodenal somatostatin-producing neuroendocrine tumour", "duodenal somatostatinoma"], "xref": ["DOID:7479", "GARD:0023892", "MEDGEN:234205", "NCIT:C27407", "UMLS:C1333320"]}
{"category": ["biolink:Disease"], "description": "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.", "id": "MONDO:0004237", "name": "Large cell carcinoma with rhabdoid phenotype", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["large cell carcinoma with rhabdoid phenotype (morphologic abnormality)", "large cell lung carcinoma with rhabdoid phenotype"], "xref": ["DOID:7480", "ICDO:8014/3", "MEDGEN:226828", "NCIT:C6876", "ONCOTREE:RLCLC", "UMLS:C1265997"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the petrous apex.", "id": "MONDO:0004238", "name": "Petrous apex meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["meningioma of petrous apex", "meningioma of petrous ridge", "meningioma of the petrous apex", "meningioma of the petrous ridge", "petrous ridge meningioma"], "xref": ["DOID:7482", "GARD:0023893", "MEDGEN:277512", "NCIT:C5271", "UMLS:C1335396"]}
{"category": ["biolink:Disease"], "description": "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.", "id": "MONDO:0004239", "name": "Cervical keratinizing squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical keratinizing squamous cell carcinoma"], "xref": ["DOID:7483", "GARD:0023894", "MEDGEN:309255", "NCIT:C40187", "UMLS:C1517658"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the portion of the urethra that is close to the bladder.", "id": "MONDO:0004240", "name": "Posterior urethra cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant neoplasm of posterior urethra", "malignant neoplasm of the posterior urethra", "malignant tumor of posterior urethra", "malignant tumor of the posterior urethra", "malignant tumour of posterior urethra", "malignant tumour of the posterior urethra", "posterior urethra malignant neoplasm", "posterior urethra malignant tumor", "posterior urethra malignant tumour", "posterior urethral cancer", "posterior urethral malignant neoplasm", "posterior urethral malignant tumor", "posterior urethral malignant tumour"], "xref": ["DOID:7488", "GARD:0027671", "MEDGEN:124676", "NCIT:C7640", "UMLS:C0279931"]}
{"category": ["biolink:Disease"], "description": "Osteochondrosis of the growth plate near the tibial tuberosity.", "id": "MONDO:0004241", "name": "Osgood-schlatter disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Osgood-Schlatter disease", "Osgood-Schlatter's disease", "Osteochondrosis of the tibial tubercle", "aseptic necrosis of the tibial tubercle", "osteochondritis of the tibial tubercle"], "xref": ["DOID:7489", "GARD:0019364", "ICD10CM:M92.52", "ICD9:736.89", "MEDGEN:10489", "MedDRA:10031130", "NCIT:C34874", "Orphanet:97335", "SCTID:430506003", "SCTID:72047008", "UMLS:C0029376"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004242", "name": "Active peptic ulcer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:749", "ICD9:578.9", "MESH:D010438", "SCTID:64121000", "SCTID:74474003"]}
{"category": ["biolink:Disease"], "description": "An epithelioid sarcoma of the proximal type involving the vulva.", "id": "MONDO:0004243", "name": "Vulvar proximal-type epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:7491", "GARD:0023895", "MEDGEN:276995", "NCIT:C40319", "UMLS:C1520093"]}
{"category": ["biolink:Disease"], "description": "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.", "id": "MONDO:0004244", "name": "Proximal-type epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central epithelioid sarcoma", "proximal-type epithelioid sarcoma"], "xref": ["DOID:7492", "GARD:0023896", "MEDGEN:235511", "NCIT:C27472", "ONCOTREE:PTES", "UMLS:C1335563"]}
{"category": ["biolink:Disease"], "description": "A tumor arising from the ependymal lining of the ventricles.", "id": "MONDO:0004245", "name": "Ependymal tumor of brain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain ependymal tumor", "brain ependymal tumour", "ependymal tumor of brain"], "xref": ["DOID:7497", "GARD:0023897", "MEDGEN:116038", "NCIT:C3861", "SCTID:254939008", "UMLS:C0238029"]}
{"category": ["biolink:Disease"], "description": "A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin.", "id": "MONDO:0004247", "name": "Peptic ulcer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute peptic ulcer with haemorrhage", "acute peptic ulcer with haemorrhage and perforation", "acute peptic ulcer without haemorrhage and without perforation", "peptic ulcer"], "xref": ["DOID:750", "ICD9:533", "MEDGEN:45384", "MESH:D010437", "NCIT:C3318", "SCTID:13200003", "UMLS:C0030920"]}
{"category": ["biolink:Disease"], "description": "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.", "id": "MONDO:0004248", "name": "Pediatric infratentorial ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood infratentorial ependymoma", "infratentorial ependymoma", "pediatric infratentorial ependymoma"], "xref": ["DOID:7501", "GARD:0023898", "MEDGEN:82949", "NCIT:C9041", "UMLS:C0278599"]}
{"category": ["biolink:Disease"], "description": "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.", "id": "MONDO:0004249", "name": "Pediatric supratentorial ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:7502", "EFO:0008495", "GARD:0023899", "MEDGEN:78854", "NCIT:C9043", "UMLS:C0278650"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.", "id": "MONDO:0004250", "name": "Extrahepatic bile duct papillary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extrahepatic bile duct papillary adenoma", "papillary adenoma of extrahepatic bile duct", "papillary adenoma of the extrahepatic bile duct"], "xref": ["DOID:7503", "MEDGEN:232483", "NCIT:C5849", "UMLS:C1333510"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0004251", "name": "Small intestine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of small bowel", "neoplasm of small intestine", "neoplasm of the small bowel", "neoplasm of the small intestine", "small bowel neoplasm", "small bowel tumor", "small bowel tumour", "small intestinal neoplasm", "small intestine neoplasm", "small intestine neoplasm (disease)", "small intestine tumor", "small intestine tumour", "tumor of small bowel", "tumor of small intestine", "tumor of the small bowel", "tumor of the small intestine", "tumour of small bowel", "tumour of small intestine", "tumour of the small bowel", "tumour of the small intestine"], "xref": ["DOID:7505", "MEDGEN:91055", "NCIT:C4432", "SCTID:126832004", "UMLS:C0345832"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.", "id": "MONDO:0004252", "name": "Small intestinal l-cell glucagon-like peptide producing tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine", "L-cell glucagon-like peptide-producing neuroendocrine tumour of small intestine", "small intestinal L-cell glucagon-like peptide-producing NET", "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor", "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumour", "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor", "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumour", "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor", "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumour"], "xref": ["DOID:7506", "GARD:0023900", "MEDGEN:475776", "NCIT:C27452", "UMLS:C3274143"]}
{"category": ["biolink:Disease"], "description": "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.", "id": "MONDO:0004253", "name": "Intraductal breast papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraductal breast papillomatosis", "intraductal papillomatosis of breast"], "xref": ["DOID:7511", "MEDGEN:235224", "NCIT:C5201", "UMLS:C1334247"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004254", "name": "Focal intraductal papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["focal intraductal papillomatosis"], "xref": ["DOID:7512", "MEDGEN:272635", "NCIT:C7365", "UMLS:C1333626"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.", "id": "MONDO:0004255", "name": "Wolffian adnexal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FATWO", "Wolffian adnexal neoplasm", "Wolffian adnexal tumor", "female adnexal tumor of probable Wolffian origin", "female adnexal tumour of probable Wolffian origin"], "xref": ["DOID:7514", "MEDGEN:275635", "MESH:C536741", "NCIT:C40141", "Orphanet:696830", "UMLS:C1520159"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the meninges of the lumbar region of the spinal cord.", "id": "MONDO:0004256", "name": "Lumbar spinal canal and spinal cord meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lumbar intraspinal meningioma", "meningioma of the lumbar spinal canal and spinal cord"], "xref": ["DOID:7515", "GARD:0023901", "MEDGEN:232707", "NCIT:C5298", "UMLS:C1334436"]}
{"category": ["biolink:Disease"], "description": "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.", "id": "MONDO:0004257", "name": "Childhood central nervous system mixed germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood mixed germ cell tumor of central nervous system", "childhood mixed germ cell tumour of central nervous system", "mixed germ cell tumor of central nervous system of childhood", "mixed germ cell tumour of central nervous system of childhood", "paediatric mixed germ cell tumour of central nervous system", "pediatric mixed germ cell tumor of central nervous system"], "xref": ["DOID:7516", "GARD:0023902", "MEDGEN:232346", "NCIT:C27403", "UMLS:C1332956"]}
{"category": ["biolink:Disease"], "description": "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.", "id": "MONDO:0004258", "name": "Female orgasmic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["female orgasmic disorder"], "xref": ["DOID:7518", "ICD10CM:F52.31", "ICD9:302.73", "MEDGEN:892329", "NCIT:C34958", "SCTID:60103007", "UMLS:C4022677"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the endocervix.", "id": "MONDO:0004259", "name": "Endocervical carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of endocervix", "endocervical cancer", "endocervix carcinoma"], "xref": ["DOID:7519", "MEDGEN:226966", "NCIT:C28327", "SCTID:372098004", "UMLS:C1299237"]}
{"category": ["biolink:Disease"], "description": "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.", "id": "MONDO:0004260", "name": "Peptic ulcer perforation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:752", "EFO:1001389", "MEDGEN:45385", "MESH:D010439", "SCTID:79118000", "UMLS:C0030925"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.", "id": "MONDO:0004261", "name": "Periductal breast myoepitheliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["periductal breast myoepitheliosis"], "xref": ["DOID:7520", "MEDGEN:274144", "NCIT:C40388", "UMLS:C1518974"]}
{"category": ["biolink:Disease"], "description": "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.", "id": "MONDO:0004262", "name": "Breast myoepitheliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast myoepitheliosis"], "xref": ["DOID:7521", "MEDGEN:269362", "NCIT:C40385", "UMLS:C1513799"]}
{"category": ["biolink:Disease"], "description": "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.", "id": "MONDO:0004263", "name": "Pediatric infratentorial ependymoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered", "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered", "childhood infratentorial ependymoblastoma", "pediatric infratentorial ependymoblastoma"], "xref": ["DOID:7522", "GARD:0023903", "MEDGEN:272462", "NCIT:C6773", "UMLS:C1332972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004264", "name": "Acute gonococcal endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute gonorrhoea of uterus", "gonococcal endometritis (acute)", "uterus - acute gonorrhea"], "xref": ["DOID:7527", "ICD9:098.16", "MEDGEN:509198", "SCTID:65295003", "UMLS:C0153196"]}
{"category": ["biolink:Disease"], "description": "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.", "id": "MONDO:0004265", "name": "Acute endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometritis, acute"], "xref": ["DOID:7528", "ICD9:615.0", "MEDGEN:68654", "NCIT:C27022", "SCTID:67667007", "UMLS:C0238103", "icd11.foundation:1197441046"]}
{"category": ["biolink:Disease"], "description": "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.", "id": "MONDO:0004266", "name": "Anal gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoma of the anal gland", "anal glands adenocarcinoma"], "xref": ["DOID:7531", "GARD:0027672", "ICDO:8215/3", "MEDGEN:220409", "NCIT:C5609", "ONCOTREE:AGA", "UMLS:C1266027"]}
{"category": ["biolink:Disease"], "description": "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.", "id": "MONDO:0004267", "name": "Squamous papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["squamous papillomatosis"], "xref": ["DOID:7532", "ICDO:8060/0", "MEDGEN:235130", "NCIT:C9009", "UMLS:C1378340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004269", "name": "Breast cystic hypersecretory carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:7537"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.", "id": "MONDO:0004270", "name": "Breast ductal adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast ductal adenoma", "ductal adenoma"], "xref": ["DOID:7538", "MEDGEN:307308", "NCIT:C40384", "UMLS:C1511307"]}
{"category": ["biolink:Disease"], "description": "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.", "id": "MONDO:0004271", "name": "Pregnancy adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Lactating adenoma", "Lactating adenoma (morphologic abnormality)"], "xref": ["DOID:7539", "ICDO:8204/0", "MEDGEN:226830", "NCIT:C9473", "UMLS:C1266023"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that involves the urinary bladder.", "id": "MONDO:0004272", "name": "Urinary bladder tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bladder tuberculous", "tuberculosis of bladder", "tuberculosis of bladder, unspecified examination", "urinary bladder tuberculosis"], "xref": ["DOID:754", "GARD:0023904", "ICD10CM:A18.12", "ICD9:016.1", "ICD9:016.10", "ICD9:016.14", "MEDGEN:509075", "SCTID:32268008", "UMLS:C0152793"]}
{"category": ["biolink:Disease"], "description": "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.", "id": "MONDO:0004273", "name": "Breast apocrine adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["apocrine adenoma of breast", "breast apocrine adenoma"], "xref": ["DOID:7540", "MEDGEN:235590", "NCIT:C40383", "UMLS:C1388299", "icd11.foundation:636674012"]}
{"category": ["biolink:Disease"], "description": "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.", "id": "MONDO:0004274", "name": "Mixed epithelial/mesenchymal metaplastic breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast carcinosarcoma"], "xref": ["DOID:7541", "GARD:0023905", "MEDGEN:307769", "NCIT:C40364", "ONCOTREE:MMBC", "UMLS:C1513365"]}
{"category": ["biolink:Disease"], "description": "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.", "id": "MONDO:0004275", "name": "Osteosarcoma arising in bone paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget osteosarcoma", "Paget's osteosarcoma", "osteosarcoma arising in Paget disease of bone", "osteosarcoma arising in Paget's disease of bone", "osteosarcoma arising in bone Paget's disease", "osteosarcoma arising in osseous Paget's disease", "osteosarcoma arising in osteitis deformans"], "xref": ["DOID:7542", "GARD:0023906", "ICDO:9184/3", "MEDGEN:569679", "NCIT:C6469", "UMLS:C0334546"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.", "id": "MONDO:0004276", "name": "Ceruminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma, ceruminous gland, benign", "ceruminous adenoma", "ceruminous adenoma (morphologic abnormality)", "ceruminous adenoma of external auditory canal", "ceruminous adenoma of the external auditory canal", "external auditory canal ceruminous adenoma"], "xref": ["DOID:7549", "ICDO:8420/0", "MEDGEN:569651", "NCIT:C6088", "SCTID:403945001", "UMLS:C0334352"]}
{"category": ["biolink:Disease"], "description": "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.", "id": "MONDO:0004277", "name": "Gonorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GC", "Neisseria gonorrhoeae infection"], "xref": ["DOID:7551", "ICD9:098", "ICD9:098.2", "ICD9:098.32", "ICD9:098.89", "MEDGEN:9077", "MESH:D006069", "NCIT:C92950", "Orphanet:100642", "SCTID:15628003", "UMLS:C0018081"]}
{"category": ["biolink:Disease"], "description": "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.", "id": "MONDO:0004278", "name": "Infiltrating bladder urothelial carcinoma sarcomatoid variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma sarcomatoid variant"], "xref": ["DOID:7553", "EFO:1000303", "GARD:0023907", "MEDGEN:268929", "NCIT:C39824", "ONCOTREE:SCB", "UMLS:C1512743"]}
{"category": ["biolink:Disease"], "description": "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)", "id": "MONDO:0004279", "name": "Glossopharyngeal motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glossopharyngeal nerve motor peripheral neuropathy", "motor peripheral neuropathy of glossopharyngeal nerve"], "xref": ["DOID:7558", "GARD:0023908", "MEDGEN:155662", "NCIT:C27212", "UMLS:C0751942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004280", "name": "Asymmetric motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7559", "GARD:0023909", "MEDGEN:231082", "NCIT:C27953", "UMLS:C1332341"]}
{"category": ["biolink:Disease"], "description": "An eccrine porocarcinoma that arises from the sweat glands in the vulva.", "id": "MONDO:0004281", "name": "Vulvar eccrine porocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eccrine porocarcinoma of mammalian vulva", "mammalian vulva eccrine porocarcinoma", "vulvar eccrine porocarcinoma"], "xref": ["DOID:7565", "GARD:0023910", "MEDGEN:275616", "NCIT:C40306", "UMLS:C1520081"]}
{"category": ["biolink:Disease"], "description": "A vulvar sweat gland carcinoma characterized by the presence of clear cells.", "id": "MONDO:0004283", "name": "Vulvar clear cell hidradenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vulvar clear cell hidradenocarcinoma"], "xref": ["DOID:7567", "GARD:0023911", "MEDGEN:275614", "NCIT:C40307", "UMLS:C1520076"]}
{"category": ["biolink:Disease"], "description": "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.", "id": "MONDO:0004285", "name": "Pancreatic intraductal papillary-mucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intraductal papillary mucinous carcinoma of pancreas", "intraductal papillary-mucinous carcinoma of pancreas", "pancreatic intraductal papillary mucinous carcinoma", "pancreatic intraductal papillary-mucinous carcinoma"], "xref": ["DOID:7574", "GARD:0021779", "MEDGEN:235451", "NCIT:C5725", "Orphanet:424058", "UMLS:C1335304", "icd11.foundation:2086328209"]}
{"category": ["biolink:Disease"], "description": "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.", "id": "MONDO:0004286", "name": "Pancreatic intraductal papillary-mucinous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IPMN", "pancreatic IPMN", "pancreatic intraductal papillary-mucinous neoplasm", "pancreatic intraductal papillary-mucinous tumor", "pancreatic intraductal papillary-mucinous tumour"], "xref": ["DOID:7575", "GARD:0027673", "MEDGEN:1373306", "NCIT:C38342", "ONCOTREE:IPMN", "UMLS:C4511687"]}
{"category": ["biolink:Disease"], "description": "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.", "id": "MONDO:0004287", "name": "Pancreatic foamy gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic foamy gland adenocarcinoma"], "xref": ["DOID:7577", "GARD:0027674", "MEDGEN:235450", "NCIT:C37256", "UMLS:C1335303"]}
{"category": ["biolink:Disease"], "description": "An infiltrating ductal breast carcinoma associated with stromal fibrosis.", "id": "MONDO:0004288", "name": "Scirrhous breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infiltrating carcinoma of breast with fibrotic Stroma", "infiltrating carcinoma of the breast with fibrotic Stroma", "scirrhous breast carcinoma", "scirrhous carcinoma of breast", "scirrhous carcinoma of the breast"], "xref": ["DOID:7578", "ICDO:8514/3", "MEDGEN:87541", "NCIT:C7362", "SCTID:254839007", "UMLS:C0346151"]}
{"category": ["biolink:Disease"], "description": "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.", "id": "MONDO:0004289", "name": "Glottis verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["glottic verrucous carcinoma", "glottis verrucous carcinoma", "verrucous carcinoma of glottis", "verrucous carcinoma of the glottis"], "xref": ["DOID:7583", "GARD:0023912", "MEDGEN:83631", "NCIT:C8189", "UMLS:C0280329"]}
{"category": ["biolink:Disease"], "description": "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.", "id": "MONDO:0004290", "name": "Subglottis verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["subglottic verrucous carcinoma", "subglottis verrucous carcinoma", "verrucous carcinoma of subglottis"], "xref": ["DOID:7584", "GARD:0023913", "MEDGEN:124721", "NCIT:C8190", "UMLS:C0280330"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.", "id": "MONDO:0004291", "name": "Subglottis squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["epidermoid carcinoma of subglottis", "epidermoid carcinoma of the subglottis", "squamous cell carcinoma of subglottis", "squamous cell carcinoma of the subglottis", "subglottic epidermoid carcinoma", "subglottic squamous cell carcinoma", "subglottis epidermoid carcinoma", "subglottis squamous cell carcinoma"], "xref": ["DOID:7585", "GARD:0023914", "MEDGEN:124720", "NCIT:C8187", "UMLS:C0280326"]}
{"category": ["biolink:Disease"], "description": "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.", "id": "MONDO:0004292", "name": "Supraglottis verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["supraglottic part of larynx verrucous carcinoma", "supraglottic verrucous carcinoma", "supraglottis verrucous carcinoma", "verrucous carcinoma of supraglottis", "verrucous carcinoma of the supraglottis"], "xref": ["DOID:7586", "GARD:0023915", "MEDGEN:76098", "NCIT:C8191", "UMLS:C0280331"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.", "id": "MONDO:0004293", "name": "Supraglottis squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["epidermoid carcinoma of supraglottis", "epidermoid carcinoma of the supraglottis", "squamous cell carcinoma of supraglottis", "squamous cell carcinoma of the supraglottis", "supraglottic epidermoid carcinoma", "supraglottic part of larynx squamous cell carcinoma", "supraglottic squamous cell carcinoma", "supraglottis epidermoid carcinoma", "supraglottis squamous cell carcinoma"], "xref": ["DOID:7587", "GARD:0023916", "MEDGEN:152890", "NCIT:C4945", "UMLS:C0749163"]}
{"category": ["biolink:Disease"], "description": "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.", "id": "MONDO:0004294", "name": "Gestational ovarian choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gestational ovarian choriocarcinoma"], "xref": ["DOID:7591", "GARD:0023917", "MEDGEN:274586", "NCIT:C40442", "UMLS:C1517538"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in the lung due to exposure to asbestos.", "id": "MONDO:0004295", "name": "Asbestos-related lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["asbestos-related lung cancer", "asbestos-related lung carcinoma"], "xref": ["DOID:7596", "MEDGEN:231080", "NCIT:C27925", "UMLS:C1332337"]}
{"category": ["biolink:Disease"], "description": "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.", "id": "MONDO:0004296", "name": "Cervical lymphoepithelioma-like carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical lymphoepithelioma-like carcinoma"], "xref": ["DOID:7598", "GARD:0023918", "MEDGEN:308946", "NCIT:C40193", "UMLS:C1516418"]}
{"category": ["biolink:Disease"], "description": "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.", "id": "MONDO:0004297", "name": "Lymphoepithelioma-like thymic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoepithelial Thymus cancer", "lymphoepithelial cancer of Thymus", "lymphoepithelial cancer of the Thymus", "lymphoepithelioma-like Thymus carcinoma", "lymphoepithelioma-like carcinoma of Thymus", "lymphoepithelioma-like carcinoma of the Thymus", "lymphoepithelioma-like thymic carcinoma", "malignant lymphoepithelial thymoma", "thymic lymphoepithelioma-like carcinoma"], "xref": ["DOID:7599", "GARD:0023919", "MEDGEN:79026", "NCIT:C7998", "UMLS:C0279706"]}
{"category": ["biolink:Disease"], "description": "A disease involving the stomach.", "id": "MONDO:0004298", "name": "Stomach disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of stomach", "disease or disorder of stomach", "disorder of stomach", "stomach disease", "stomach disease or disorder", "stomach disorder"], "xref": ["DOID:76", "EFO:0009608", "ICD9:537.89", "ICD9:537.9", "MEDGEN:21329", "MESH:D013272", "NCIT:C26886", "SCTID:29384001", "UMLS:C0038354", "icd11.foundation:1264914040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004299", "name": "Infiltrating bladder lymphoepithelioma-like carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder lymphoepithelioma-like carcinoma"], "xref": ["DOID:7600", "GARD:0023920", "MEDGEN:268571", "NCIT:C39821", "UMLS:C1512736"]}
{"category": ["biolink:Disease"], "description": "A conventional osteosarcoma characterized by the presence of spindle shaped cells.", "id": "MONDO:0004301", "name": "Fibrosarcomatous osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["fibroblastic osteogenic sarcoma", "fibroblastic osteosarcoma", "fibroblastic osteosarcoma (morphologic abnormality)", "fibrosarcomatous osteogenic sarcoma", "fibrosarcomatous osteosarcoma"], "xref": ["DOID:7603", "GARD:0023921", "ICDO:9182/3", "MEDGEN:79012", "NCIT:C4020", "ONCOTREE:FIOS", "UMLS:C0279602"]}
{"category": ["biolink:Disease"], "description": "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.", "id": "MONDO:0004302", "name": "Chief cell adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chief cell adenoma", "chief cell adenoma of parathyroid", "chief cell adenoma of parathyroid gland", "chief cell adenoma of the parathyroid", "chief cell adenoma of the parathyroid gland", "parathyroid chief cell adenoma", "parathyroid gland chief cell adenoma"], "xref": ["DOID:7607", "ICDO:8321/0", "MEDGEN:83128", "NCIT:C4154", "UMLS:C0334320"]}
{"category": ["biolink:Disease"], "description": "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.", "id": "MONDO:0004303", "name": "Parathyroid gland clear cell adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell adenoma of parathyroid", "clear cell adenoma of parathyroid gland", "clear cell adenoma of the parathyroid", "clear cell adenoma of the parathyroid gland", "parathyroid clear cell adenoma", "parathyroid gland clear cell adenoma", "parathyroid gland transitional clear cell adenoma", "parathyroid transitional clear cell adenoma", "transitional clear cell adenoma of parathyroid", "transitional clear cell adenoma of parathyroid gland", "transitional clear cell adenoma of the parathyroid", "transitional clear cell adenoma of the parathyroid gland"], "xref": ["DOID:7609", "MEDGEN:83546", "NCIT:C7993", "UMLS:C0279700"]}
{"category": ["biolink:Disease"], "description": "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).", "id": "MONDO:0004304", "name": "Mixed cell type adenoma of parathyroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed cell type adenoma of parathyroid", "mixed cell type adenoma of parathyroid gland", "mixed cell type adenoma of the parathyroid", "mixed cell type adenoma of the parathyroid gland", "parathyroid gland mixed cell type adenoma", "parathyroid mixed cell type adenoma"], "xref": ["DOID:7610", "MEDGEN:83547", "NCIT:C7994", "UMLS:C0279701"]}
{"category": ["biolink:Disease"], "description": "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.", "id": "MONDO:0004305", "name": "Parathyroid oncocytic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["parathyroid gland oncocytic adenoma", "parathyroid oncocytic adenoma"], "xref": ["DOID:7611", "MEDGEN:233845", "NCIT:C27393", "UMLS:C1335351"]}
{"category": ["biolink:Disease"], "description": "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.", "id": "MONDO:0004306", "name": "Childhood intracortical osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood conventional osteosarcoma", "childhood intracortical osteosarcoma"], "xref": ["DOID:7612", "GARD:0023922", "MEDGEN:232350", "NCIT:C6590", "UMLS:C1332974"]}
{"category": ["biolink:Disease"], "description": "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.", "id": "MONDO:0004307", "name": "Sarcomatosis of the meninges", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningeal cluster sarcomatosis", "meningeal sarcomatosis", "meningeal sarcomatosis (morphologic abnormality)", "meninges sarcomatosis", "sarcomatosis of meninges", "sarcomatosis of the meninges"], "xref": ["DOID:7613", "GARD:0023923", "ICDO:9539/3", "MEDGEN:83175", "NCIT:C4334", "UMLS:C0334612"]}
{"category": ["biolink:Disease"], "description": "A rare sarcoma arising from the meninges.", "id": "MONDO:0004308", "name": "Meningeal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningeal cluster sarcoma", "meningeal sarcoma", "meninges sarcoma", "sarcoma of meningeal cluster", "sarcoma of meninges", "sarcoma of the meninges"], "xref": ["DOID:7614", "GARD:0023924", "MEDGEN:90148", "NCIT:C4073", "UMLS:C0302327"]}
{"category": ["biolink:Disease"], "description": "The occurrence of several sarcomas in different anatomic locations.", "id": "MONDO:0004309", "name": "Sarcomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sarcomatosis", "sarcomatosis (morphologic abnormality)", "sarcomatosis NOS (morphologic abnormality)"], "xref": ["DOID:7615", "ICDO:8800/9", "MEDGEN:83152", "NCIT:C4243", "UMLS:C0334451"]}
{"category": ["biolink:Disease"], "description": "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.", "id": "MONDO:0004310", "name": "Adult embryonal tumor with multilayered rosettes, c19mc-altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult embryonal tumor with multilayered rosettes, C19MC-altered", "adult embryonal tumour with multilayered rosettes, C19MC-altered", "adult ependymoblastoma", "ependymoblastoma of adults"], "xref": ["DOID:7631", "GARD:0023925", "MEDGEN:83792", "NCIT:C8290", "UMLS:C0281330"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the bulbo-urethral gland.", "id": "MONDO:0004311", "name": "Carcinoma of cowper glands", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bulbo-urethral gland carcinoma", "carcinoma of Cowper glands", "carcinoma of bulbo-urethral gland"], "xref": ["DOID:7632", "GARD:0027675", "MEDGEN:273091", "NCIT:C39864", "UMLS:C1516284"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the suprasellar region.", "id": "MONDO:0004312", "name": "Suprasellar meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of sella turcica", "sella turcica meningioma (disease)"], "xref": ["DOID:7634", "GARD:0023926", "MEDGEN:234911", "NCIT:C6776", "UMLS:C1336535"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the trigeminal ganglion.", "id": "MONDO:0004313", "name": "Gasserian ganglion meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Gasserian meningioma", "gasserian ganglion meningioma (disease)", "meningioma (disease) of gasserian ganglion", "meningioma of Gasserian ganglion", "meningioma of the Gasserian ganglion"], "xref": ["DOID:7635", "GARD:0023927", "MEDGEN:232542", "NCIT:C6779", "UMLS:C1333760"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004314", "name": "Malignant cutaneous granular cell skin tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant cutaneous granular cell tumor", "malignant cutaneous granular cell tumour", "malignant granular cell neoplasm of skin", "malignant granular cell neoplasm of the skin", "malignant granular cell skin neoplasm", "malignant granular cell skin tumor", "malignant granular cell tumor of skin", "malignant granular cell tumor of the skin", "malignant granular cell tumour of the skin"], "xref": ["DOID:7639", "GARD:0023928", "MEDGEN:233658", "NCIT:C5614", "UMLS:C1334575"]}
{"category": ["biolink:Disease"], "description": "An intrahepatic cholangiocarcinoma that arises from the canals of Hering.", "id": "MONDO:0004315", "name": "Cholangiolocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CLC", "cholangiocarcinoma of intralobular bile duct", "cholangiolocellular carcinoma", "intralobular bile duct cholangiocarcinoma"], "xref": ["DOID:7642", "GARD:0023929", "MEDGEN:273143", "NCIT:C41617", "UMLS:C1516490"]}
{"category": ["biolink:Disease"], "description": "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.", "id": "MONDO:0004316", "name": "Acantholytic squamous cell skin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acantholytic squamous cell carcinoma of the skin", "acantholytic squamous cell skin carcinoma"], "xref": ["DOID:7643", "MEDGEN:91065", "NCIT:C4460", "SCTID:254654004", "UMLS:C0345979"]}
{"category": ["biolink:Disease"], "description": "Multiple meningiomas that arises from the spinal meninges.", "id": "MONDO:0004317", "name": "Multiple spinal canal and spinal cord meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["multiple Meningiomas of spinal canal and spinal cord", "multiple intraspinal Meningiomas", "multiple spinal canal and spinal cord Meningiomas"], "xref": ["DOID:7646", "GARD:0023930", "MEDGEN:235341", "NCIT:C5275", "UMLS:C1334825"]}
{"category": ["biolink:Disease"], "description": "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.", "id": "MONDO:0004318", "name": "Pulmonary type ovarian small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian small cell carcinoma, pulmonary type"], "xref": ["DOID:7650", "GARD:0023931", "MEDGEN:309517", "NCIT:C40440", "UMLS:C1518737"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.", "id": "MONDO:0004319", "name": "Hypercalcemic type ovarian small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SCCOHT", "ovarian small cell carcinoma, hypercalcemic type"], "xref": ["DOID:7651", "GARD:0023932", "MEDGEN:275294", "NCIT:C40439", "UMLS:C1518736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004320", "name": "Adult infiltrating astrocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult infiltrating astrocytic neoplasm", "adult infiltrating astrocytic tumor", "adult infiltrating astrocytic tumour"], "xref": ["DOID:7656", "GARD:0023933", "MEDGEN:79278", "NCIT:C8289", "UMLS:C0281329"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.", "id": "MONDO:0004321", "name": "Endometrial mixed adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial mixed adenocarcinoma"], "xref": ["DOID:7664", "MEDGEN:1670192", "NCIT:C40153", "UMLS:C4745252", "icd11.foundation:575106861"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.", "id": "MONDO:0004322", "name": "Non-gestational ovarian choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7665", "GARD:0023934", "MEDGEN:274798", "NCIT:C39991", "UMLS:C1518355"]}
{"category": ["biolink:Disease"], "description": "The loss of muscle tissue due to inactivity or disease.", "id": "MONDO:0004323", "name": "Muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:767", "ICD9:728.2", "MEDGEN:892680", "MESH:D009133", "SCTID:88092000", "UMLS:C0541794"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.", "id": "MONDO:0004324", "name": "Testicular fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7675", "GARD:0023936", "MEDGEN:308256", "NCIT:C39951", "UMLS:C1515282"]}
{"category": ["biolink:Disease"], "description": "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.", "id": "MONDO:0004325", "name": "Testicular thecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testis thecoma", "thecoma of testis"], "xref": ["DOID:7676", "GARD:0023937", "MEDGEN:308260", "NCIT:C39952", "UMLS:C1515299"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.", "id": "MONDO:0004326", "name": "Sphenoid sinus inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["inverted papilloma of sphenoid sinus", "inverted papilloma of the sphenoid sinus", "sphenoidal sinus inverted papilloma"], "xref": ["DOID:7678", "GARD:0023938", "MEDGEN:236834", "NCIT:C6841", "UMLS:C1336037"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.", "id": "MONDO:0004327", "name": "Sphenoid sinus schneiderian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schneiderian papilloma of the sphenoid sinus", "sphenoid sinus Schneiderian papilloma"], "xref": ["DOID:7679", "GARD:0023939", "MEDGEN:277659", "NCIT:C6838", "UMLS:C1336038"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.", "id": "MONDO:0004328", "name": "Maxillary sinus adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adenocarcinoma of the maxillary sinus", "maxillary sinus adenocarcinoma"], "xref": ["DOID:7684", "GARD:0023940", "MEDGEN:233167", "NCIT:C6240", "SCTID:707339009", "UMLS:C1334642"]}
{"category": ["biolink:Disease"], "description": "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.", "id": "MONDO:0004329", "name": "Pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia", "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia", "pancreatic non-invasive intraductal papillary-mucinous carcinoma"], "xref": ["DOID:7685", "GARD:0023941", "ICDO:8453/2", "MEDGEN:275330", "NCIT:C41251", "UMLS:C1518873"]}
{"category": ["biolink:Disease"], "description": "A sarcoma arising from the leptomeninges.", "id": "MONDO:0004330", "name": "Leptomeningeal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leptomeningeal sarcoma", "leptomeninx sarcoma", "sarcoma of leptomeninges", "sarcoma of leptomeninx", "sarcoma of the leptomeninges", "sarcoma, leptomeningeal, malignant", "sarcoma, meningeal"], "xref": ["DOID:7689", "GARD:0023942", "MEDGEN:235139", "NCIT:C8312", "UMLS:C1384416"]}
{"category": ["biolink:Disease"], "description": "A adenocarcinoma that involves the urachus.", "id": "MONDO:0004331", "name": "Bladder urachal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bladder urachal adenocarcinoma", "urachus adenocarcinoma"], "xref": ["DOID:7694", "GARD:0010186", "MEDGEN:419014", "MESH:C536474", "NCIT:C39843", "ONCOTREE:UA", "UMLS:C2931201"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the lung hilus.", "id": "MONDO:0004332", "name": "Lung hilum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of lung hilus", "lung hilus cancer", "malignant hilar lung neoplasm", "malignant hilar lung tumor", "malignant hilar lung tumour", "malignant lung hilum neoplasm", "malignant lung hilum tumor", "malignant lung hilum tumour", "malignant lung hilus neoplasm", "malignant neoplasm of lung hilum", "malignant neoplasm of lung hilus", "malignant neoplasm of the lung hilum", "malignant tumor of lung hilum", "malignant tumor of the lung hilum", "malignant tumour of lung hilum", "malignant tumour of the lung hilum", "primary malignant neoplasm of hilus of lung"], "xref": ["DOID:7696", "MEDGEN:435848", "NCIT:C4566", "SCTID:93827000", "UMLS:C2607931", "icd11.foundation:691871206"]}
{"category": ["biolink:Disease"], "description": "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.", "id": "MONDO:0004333", "name": "Pancreatic acth-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic ACTH producing NET", "pancreatic ACTH producing neuroendocrine tumor", "pancreatic ACTH producing neuroendocrine tumour", "pancreatic ACTH producing tumor", "pancreatic ACTH producing tumour", "pancreatic ACTH-producing neuroendocrine tumor", "pancreatic adrenocorticotropic hormone producing tumor"], "xref": ["DOID:7697", "GARD:0023943", "ICDO:8158/1", "MEDGEN:233302", "NCIT:C27466", "UMLS:C1335300"]}
{"category": ["biolink:Disease"], "description": "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.", "id": "MONDO:0004334", "name": "Non-functional pancreatic neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["inactive pancreatic endocrine tumor", "inactive pancreatic endocrine tumour", "non-functional pancreatic neuroendocrine tumor", "non-functioning PNET", "non-functioning pancreatic NET", "non-functioning pancreatic endocrine tumor", "non-functioning pancreatic endocrine tumour", "non-functioning pancreatic neuroendocrine tumor", "non-functioning pancreatic neuroendocrine tumour", "non-functioning well differentiated pancreatic endocrine tumor", "non-functioning well differentiated pancreatic endocrine tumour", "non-functioning well-differentiated NEN of pancreas", "non-functioning well-differentiated neuroendocrine neoplasm of pancreas", "non-functioning well-differentiated pancreatic NEN", "non-functioning well-differentiated pancreatic neuroendocrine neoplasm", "non-syndromic pancreatic NET", "non-syndromic pancreatic neuroendocrine tumor", "non-syndromic pancreatic neuroendocrine tumour", "nonfunctional pancreatic NET", "nonfunctional pancreatic neuroendocrine tumor", "nonfunctional pancreatic neuroendocrine tumour", "nonsyndromic pancreatic endocrine tumor", "nonsyndromic pancreatic endocrine tumour", "nonsyndromic pancreatic neuroendocrine tumor", "nonsyndromic pancreatic neuroendocrine tumour"], "xref": ["DOID:7698", "GARD:0022054", "ICDO:8150/3", "MEDGEN:277416", "MESH:C536126", "NCIT:C45837", "Orphanet:506075", "UMLS:C1334977"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the digestive system.", "id": "MONDO:0004335", "name": "Digestive system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "synonym": ["digestive disease", "digestive system disease", "digestive system disease or disorder", "digestive system disorder", "disease of digestive system", "disease or disorder of digestive system", "disorder of digestive system", "gastroenterological system disease", "gastroenterological system disorder", "gastrointestinal disorder", "gastrointestinal system disease", "gastrointestinal system disorder", "stomach or intestinal disorder"], "xref": ["DOID:77", "ICD10CM:K00-K95", "ICD9:520-579", "ICD9:V47.3", "MEDGEN:892790", "MESH:D005767", "NANDO:1100013", "NCIT:C2990", "SCTID:53619000", "UMLS:C4023588", "icd11.foundation:1256772020"]}
{"category": ["biolink:Disease"], "description": "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.", "id": "MONDO:0004336", "name": "Rectal signet ring cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rectal signet Ring cell adenocarcinoma", "rectum signet ring cell carcinoma", "signet Ring adenocarcinoma of rectum", "signet Ring adenocarcinoma of the rectum", "signet Ring cell adenocarcinoma of rectum", "signet Ring cell adenocarcinoma of the rectum"], "xref": ["DOID:7707", "MEDGEN:124641", "NCIT:C9168", "UMLS:C0279654"]}
{"category": ["biolink:Disease"], "description": "Paget disease involving the perianal skin.", "id": "MONDO:0004337", "name": "Perianal skin paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget disease of the anal margin", "Paget's disease of the anal margin", "anal margin Paget's disease", "perianal skin Paget disease", "perianal skin Paget's disease", "perianal skin mammary Paget's disease"], "xref": ["DOID:7708", "GARD:0023944", "MEDGEN:231372", "NCIT:C7476", "UMLS:C1332270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004338", "name": "Retinal cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of retinal cell", "malignant neoplasm of retinal cell", "malignant retinal cell neoplasm", "retinal cell cancer"], "xref": ["DOID:771"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the tuberculum sellae.", "id": "MONDO:0004339", "name": "Tuberculum sellae meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of the tuberculum sellae", "meningioma of tuberculum sellae", "sella turcica neoplasm of tuberculum sellae", "tuberculum sellae sella turcica neoplasm"], "xref": ["DOID:7713", "GARD:0023945", "MEDGEN:277835", "NCIT:C5284", "UMLS:C1336829"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.", "id": "MONDO:0004340", "name": "Mixed ductal-endocrine carcinoma of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed ductal-endocrine carcinoma of the pancreas", "mixed ductal-neuroendocrine carcinoma of the pancreas"], "xref": ["DOID:7716", "GARD:0027676", "MEDGEN:266254", "NCIT:C6879", "UMLS:C1301048"]}
{"category": ["biolink:Disease"], "description": "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.", "id": "MONDO:0004341", "name": "Colloid carcinoma of the pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["colloid carcinoma of the pancreas", "mucinous Noncystic carcinoma", "pancreatic mucinous Noncystic carcinoma"], "xref": ["DOID:7717", "GARD:0027677", "MEDGEN:232082", "NCIT:C37214", "UMLS:C1333081"]}
{"category": ["biolink:Disease"], "description": "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.", "id": "MONDO:0004343", "name": "Pancreatic acinar cell cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acinar cell cystadenocarcinoma", "acinar cell cystadenocarcinoma (morphologic abnormality)", "acinar cell cystadenocarcinoma of pancreas", "acinar cell cystadenocarcinoma of the pancreas", "pancreatic acinar cell cystadenocarcinoma"], "xref": ["DOID:7729", "GARD:0023946", "ICDO:8551/3", "MEDGEN:224757", "NCIT:C5727", "UMLS:C1266087"]}
{"category": ["biolink:Disease"], "description": "A malignant hemangiopericytoma occurring in childhood.", "id": "MONDO:0004344", "name": "Childhood malignant hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant childhood hemangiopericytoma", "malignant paediatric hemangiopericytoma", "malignant pediatric hemangiopericytoma"], "xref": ["DOID:7731", "GARD:0023947", "MEDGEN:124686", "NCIT:C8090", "UMLS:C0279983"]}
{"category": ["biolink:Disease"], "description": "A malignant peripheral nerve sheath tumor occurring in children.", "id": "MONDO:0004345", "name": "Childhood malignant schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood MPNST", "childhood malignant neoplasm of peripheral nerve sheath", "childhood malignant neoplasm of the peripheral nerve sheath", "childhood malignant neurilemmoma", "childhood malignant peripheral nerve sheath neoplasm", "childhood malignant peripheral nerve sheath tumor", "childhood malignant peripheral nerve sheath tumour", "childhood malignant schwannoma", "childhood malignant tumor of peripheral nerve sheath", "childhood malignant tumor of the peripheral nerve sheath", "childhood malignant tumour of peripheral nerve sheath", "childhood malignant tumour of the peripheral nerve sheath", "childhood neurofibrosarcoma", "childhood neurogenic sarcoma", "paediatric MPNST", "paediatric malignant neoplasm of peripheral nerve sheath", "paediatric malignant neoplasm of the peripheral nerve sheath", "paediatric malignant neurilemmoma", "paediatric malignant peripheral nerve sheath neoplasm", "paediatric malignant peripheral nerve sheath tumour", "paediatric malignant schwannoma", "paediatric malignant tumour of peripheral nerve sheath", "paediatric malignant tumour of the peripheral nerve sheath", "pediatric MPNST", "pediatric malignant neoplasm of peripheral nerve sheath", "pediatric malignant neoplasm of the peripheral nerve sheath", "pediatric malignant neurilemmoma", "pediatric malignant peripheral nerve sheath neoplasm", "pediatric malignant peripheral nerve sheath tumor", "pediatric malignant schwannoma", "pediatric malignant tumor of peripheral nerve sheath", "pediatric malignant tumor of the peripheral nerve sheath"], "xref": ["DOID:7732", "GARD:0023948", "MEDGEN:83582", "NCIT:C8094", "UMLS:C0279987"]}
{"category": ["biolink:Disease"], "description": "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.", "id": "MONDO:0004346", "name": "Signet ring cell intrahepatic cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["signet Ring cell intrahepatic cholangiocarcinoma"], "xref": ["DOID:7733", "GARD:0023949", "MEDGEN:276815", "NCIT:C41619", "UMLS:C1519321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004348", "name": "Retinal telangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:7736", "HP:0007763", "ICD9:362.15", "MEDGEN:57598", "SCTID:84884003", "UMLS:C0154835"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that involves the retina.", "id": "MONDO:0004349", "name": "Retina lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma of retina", "lymphoma of the retina", "primary retinal lymphoma", "retina lymphoma", "retinal lymphoma"], "xref": ["DOID:774", "GARD:0023950", "ICD9:198.4", "MEDGEN:83291", "NCIT:C4365", "SCTID:232075002", "UMLS:C0339556"]}
{"category": ["biolink:Disease"], "description": "Retinoblastoma during childhood that has spread beyond the eye.", "id": "MONDO:0004350", "name": "Pediatric extraocular retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood extraocular retinoblastoma", "childhood metastatic retinoblastoma", "extraocular retinoblastoma of childhood", "pediatric extraocular retinoblastoma"], "xref": ["DOID:7747", "GARD:0023951", "MEDGEN:230837", "NCIT:C9048", "UMLS:C1321870"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.", "id": "MONDO:0004351", "name": "Intraocular lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PIOL", "intraocular lymphoma", "primary intraocular lymphoma", "primary intraocular non-Hodgkin's lymphoma"], "xref": ["DOID:775", "GARD:0021063", "ICD9:200.50", "MEDGEN:79344", "MESH:D064090", "NCIT:C9184", "Orphanet:279904", "SCTID:420788006", "UMLS:C0281658"]}
{"category": ["biolink:Disease"], "description": "An ependymoma of the brain occurring in adults.", "id": "MONDO:0004352", "name": "Adult brain ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult brain ependymoma"], "xref": ["DOID:7750", "GARD:0023952", "MEDGEN:231033", "NCIT:C9372", "UMLS:C1332186"]}
{"category": ["biolink:Disease"], "description": "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.", "id": "MONDO:0004353", "name": "Extrahepatic biliary papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extrahepatic bile duct papillary neoplasm", "extrahepatic bile duct papillomatosis", "extrahepatic biliary papillomatosis"], "xref": ["DOID:7752", "MEDGEN:232484", "NCIT:C7124", "UMLS:C1333511"]}
{"category": ["biolink:Disease"], "description": "Leukemia that occurs during the neonatal period.", "id": "MONDO:0004354", "name": "Neonatal leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neonatal leukemia"], "xref": ["DOID:7756", "GARD:0023953", "MEDGEN:116003", "NCIT:C3845", "UMLS:C0235813"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic leukemia that occurs during childhood.", "id": "MONDO:0004355", "name": "Childhood leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["childhood leukaemia (disease)", "childhood leukemia", "childhood leukemia (disease)", "leukaemia (disease) of childhood", "leukemia (disease) of childhood", "paediatric leukaemia (disease)", "pediatric leukemia (disease)"], "xref": ["DOID:7757", "GARD:0023954", "MEDGEN:234132", "NANDO:2100002", "NCIT:C4989", "UMLS:C1332977"]}
{"category": ["biolink:Disease"], "description": "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.", "id": "MONDO:0004356", "name": "Childhood multilocular cystic kidney neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood multilocular cystic kidney neoplasm", "childhood multilocular cystic kidney tumor", "childhood multilocular cystic kidney tumour", "childhood multilocular cystic renal neoplasm", "childhood multilocular cystic renal tumor", "childhood multilocular cystic renal tumour", "paediatric multilocular cystic kidney neoplasm", "paediatric multilocular cystic kidney tumour", "paediatric multilocular cystic renal neoplasm", "paediatric multilocular cystic renal tumour", "pediatric multilocular cystic kidney neoplasm", "pediatric multilocular cystic kidney tumor", "pediatric multilocular cystic renal neoplasm", "pediatric multilocular cystic renal tumor"], "xref": ["DOID:7762", "MEDGEN:232064", "NCIT:C6566", "UMLS:C1332983"]}
{"category": ["biolink:Disease"], "description": "A carcinoma of the larynx that arises from the supraglottic area.", "id": "MONDO:0004357", "name": "Carcinoma of supraglottis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of supraglottis", "cancer of the supraglottis", "carcinoma of supraglottic part of larynx", "carcinoma of supraglottis", "carcinoma of the supraglottis", "supraglottic cancer", "supraglottic carcinoma", "supraglottic part of larynx carcinoma", "supraglottic throat cancer", "supraglottis carcinoma"], "xref": ["DOID:7763", "GARD:0009478", "MEDGEN:266243", "NCIT:C5973", "SCTID:372105009", "UMLS:C1299240"]}
{"category": ["biolink:Disease"], "description": "A carcinoma of the larynx that arises from the subglottic area.", "id": "MONDO:0004358", "name": "Subglottis carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of subglottis", "carcinoma of the subglottis", "subglottic carcinoma", "subglottis carcinoma"], "xref": ["DOID:7764", "GARD:0027678", "MEDGEN:226968", "NCIT:C5972", "SCTID:372104008", "UMLS:C1299239"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).", "id": "MONDO:0004359", "name": "Delusional disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:778", "ICD10WHO:F22.0", "ICD9:297.1", "MEDGEN:8276", "NCIT:C94379", "SCTID:48500005", "UMLS:C0011251", "icd11.foundation:1974996783"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the breast tissue.", "id": "MONDO:0004360", "name": "Breast extraskeletal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast extraskeletal osteosarcoma", "breast osteosarcoma", "breast osteosarcoma (disease)", "osteogenic breast sarcoma", "osteogenic sarcoma of breast", "osteogenic sarcoma of the breast", "osteosarcoma of breast", "osteosarcoma of the breast"], "xref": ["DOID:7787", "GARD:0023955", "MEDGEN:235414", "NCIT:C5189", "UMLS:C1335149"]}
{"category": ["biolink:Disease"], "description": "An ependymoma of the spinal cord occurring in adults.", "id": "MONDO:0004361", "name": "Adult spinal cord ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult spinal cord ependymoma", "spinal cord ependymoma of adults"], "xref": ["DOID:7788", "GARD:0023956", "MEDGEN:231359", "NCIT:C27399", "UMLS:C1332215"]}
{"category": ["biolink:Disease"], "description": "A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)", "id": "MONDO:0004363", "name": "Adult spinal cord glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult spinal cord glioblastoma", "adult spinal cord glioblastoma multiforme"], "xref": ["DOID:7806", "GARD:0023957", "MEDGEN:107849", "NCIT:C27183", "SCTID:276829003", "UMLS:C0559185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004364", "name": "Choroid necrotic melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["choroid necrotic melanoma", "necrotic choroid melanoma", "necrotic melanoma of choroid", "necrotic melanoma of the choroid"], "xref": ["DOID:7807", "GARD:0023958", "MEDGEN:232362", "NCIT:C6865", "UMLS:C1333026"]}
{"category": ["biolink:Disease"], "description": "A uveal melanoma characterized by the presence of tumor cell necrosis.", "id": "MONDO:0004365", "name": "Necrotic uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7808", "GARD:0023959", "MEDGEN:1669717", "NCIT:C7990", "UMLS:C0279695"]}
{"category": ["biolink:Disease"], "description": "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.", "id": "MONDO:0004366", "name": "Mixed astrocytoma-ependymoma-oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed astrocytoma-ependymoma-oligodendroglioma"], "xref": ["DOID:7817", "GARD:0023960", "MEDGEN:79184", "NCIT:C8272", "UMLS:C0280792"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the petroclival region.", "id": "MONDO:0004367", "name": "Petroclival meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7818", "GARD:0023961", "MEDGEN:277511", "NCIT:C5278", "UMLS:C1335395"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the sphenoorbital region.", "id": "MONDO:0004368", "name": "Sphenoorbital meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7819", "GARD:0023962", "MEDGEN:233458", "NCIT:C5285", "UMLS:C1336040"]}
{"category": ["biolink:Disease"], "description": "An infectious disease that involves the kidney.", "id": "MONDO:0004369", "name": "Renal infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infectious disease of kidney", "kidney infectious disease"], "xref": ["DOID:782", "ICD9:590", "ICD9:590.9", "MEDGEN:507844", "UMLS:C0021313"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the sphenocavernous region.", "id": "MONDO:0004370", "name": "Sphenocavernous meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7820", "GARD:0023963", "MEDGEN:234801", "NCIT:C5313", "UMLS:C1336036"]}
{"category": ["biolink:Disease"], "description": "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.", "id": "MONDO:0004371", "name": "Spinal multifocal clear cell meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinal multifocal clear cell meningioma"], "xref": ["DOID:7824", "GARD:0023964", "MEDGEN:277661", "NCIT:C5287", "UMLS:C1336051"]}
{"category": ["biolink:Disease"], "description": "Neuropathy affecting multiple nerves that is caused by prolonged exposure to toxic substances.", "id": "MONDO:0004372", "name": "Chronic toxic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chronic toxic polyneuropathy"], "xref": ["DOID:7825", "GARD:0023965", "MEDGEN:234149", "NCIT:C35603", "UMLS:C1333048"]}
{"category": ["biolink:Disease"], "description": "A papillary meningioma occurring in adults.", "id": "MONDO:0004373", "name": "Adult papillary meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult papillary meningioma", "papillary meningioma of adults"], "xref": ["DOID:7826", "GARD:0023966", "MEDGEN:76256", "NCIT:C8293", "UMLS:C0281334"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the soft tissue, and occurring in adults.", "id": "MONDO:0004374", "name": "Adult extraskeletal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult extraosseous osteosarcoma", "adult extraskeletal osteosarcoma", "extraosseous osteosarcoma of adults"], "xref": ["DOID:7827", "GARD:0023967", "MEDGEN:83016", "NCIT:C7925", "UMLS:C0278985"]}
{"category": ["biolink:Disease"], "description": "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.", "id": "MONDO:0004375", "name": "End stage renal failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ESRD", "ESRD, end stage renal disease", "chronic kidney disease, stage 5", "disease (ESRD), end stage renal", "end stage kidney disease", "end stage kidney failure", "end stage renal disease", "end stage renal disease (ESRD)", "renal disease (ESRD), end stage", "renal disease, end stage"], "xref": ["DOID:783", "ICD10CM:N18.5", "ICD10CM:N18.6", "ICD9:585.6", "MEDGEN:384526", "NCIT:C9439", "SCTID:46177005", "UMLS:C2316810"]}
{"category": ["biolink:Disease"], "description": "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.", "id": "MONDO:0004376", "name": "Infiltrating nipple syringomatous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infiltrating nipple syringomatous adenoma", "nipple syringomatous adenoma"], "xref": ["DOID:7839", "MEDGEN:825590", "NCIT:C40363", "UMLS:C3839745"]}
{"category": ["biolink:Disease"], "description": "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.", "id": "MONDO:0004377", "name": "Pancreatic non-functioning delta cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-functional pancreatic Delta cell NET", "non-functional pancreatic Delta cell neuroendocrine tumor", "non-functional pancreatic Delta cell neuroendocrine tumour", "non-functioning pancreatic Delta cell neoplasm", "non-functioning pancreatic Delta cell tumor", "non-functioning pancreatic Delta cell tumour", "nonfunctional Pancreatic Delta cell Neuroendocrine tumor", "nonfunctional Pancreatic Delta cell Neuroendocrine tumour"], "xref": ["DOID:7840", "GARD:0023968", "MEDGEN:235453", "NCIT:C28333", "UMLS:C1335311"]}
{"category": ["biolink:Disease"], "description": "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.", "id": "MONDO:0004378", "name": "Pediatric cerebral ependymoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered", "childhood cerebral embryonal tumour with Multilayered Rosettes, C19MC-altered", "childhood cerebral ependymoblastoma"], "xref": ["DOID:7841", "GARD:0023969", "MEDGEN:234125", "NCIT:C6957", "UMLS:C1332962"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.", "id": "MONDO:0004379", "name": "Female breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast carcinoma, female", "carcinoma of female breast", "carcinoma of the female breast", "female breast cancer", "female breast carcinoma", "mammary carcinoma of female breast", "mammary carcinoma of the female breast"], "xref": ["DOID:0050671", "DOID:7843", "ICD9:174.8", "ICD9:174.9", "MEDGEN:40099", "NCIT:C2918", "SCTID:372064008", "SCTID:447782002", "UMLS:C0007104"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that involves the dendritic cell.", "id": "MONDO:0004380", "name": "Dendritic cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dendritic cell sarcoma", "sarcoma of dendritic cell"], "xref": ["DOID:7849", "GARD:0019082", "MEDGEN:226984", "NCIT:C27260", "ONCOTREE:DCS", "Orphanet:86903", "SCTID:446643000", "UMLS:C1301364"]}
{"category": ["biolink:Disease"], "description": "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.", "id": "MONDO:0004381", "name": "Pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia", "pancreatic intraductal papillary-mucinous adenoma", "pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia"], "xref": ["DOID:7851", "GARD:0027679", "ICDO:8453/0", "MEDGEN:274118", "NCIT:C41249", "SCTID:473418001", "UMLS:C1518868"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.", "id": "MONDO:0004382", "name": "Laryngeal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of larynx", "disease or disorder of larynx", "disorder of larynx", "disorder of the larynx", "laryngeal disease", "laryngeal disorder", "larynx disease", "larynx disease or disorder"], "xref": ["DOID:786", "EFO:0009673", "ICD9:478.70", "MEDGEN:7268", "MESH:D007818", "NCIT:C26810", "SCTID:60600009", "UMLS:C0023051"]}
{"category": ["biolink:Disease"], "description": "A central nervous system germinoma that occurs in an adult.", "id": "MONDO:0004383", "name": "Adult central nervous system germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult CNS germinoma", "adult central nervous system germinoma", "central nervous system germinoma of adults", "germinoma of adult CNS", "germinoma of adult central nervous system", "germinoma of the adult CNS", "germinoma of the adult central nervous system"], "xref": ["DOID:7867", "GARD:0023970", "MEDGEN:234581", "NCIT:C5792", "UMLS:C1370504"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.", "id": "MONDO:0004384", "name": "Maxillary sinus inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inverted papilloma of maxillary sinus", "inverted papilloma of the maxillary sinus", "maxillary sinus inverted papilloma"], "xref": ["DOID:7868", "GARD:0023971", "MEDGEN:277347", "NCIT:C6840", "UMLS:C1334645"]}
{"category": ["biolink:Disease"], "description": "A xanthogranuloma that occurs in an adult.", "id": "MONDO:0004385", "name": "Adult xanthogranuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["adult xanthogranuloma", "xanthogranuloma of adults"], "xref": ["DOID:7875", "GARD:0023972", "MEDGEN:231363", "NCIT:C27514", "UMLS:C1332220"]}
{"category": ["biolink:Disease"], "description": "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.", "id": "MONDO:0004386", "name": "Uterine corpus atypical polypoid adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atypical polypoid adenomyoma of body of uterus", "body of uterus atypical polypoid adenomyoma"], "xref": ["DOID:7878", "MEDGEN:276937", "NCIT:C40235", "UMLS:C1519844"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.", "id": "MONDO:0004387", "name": "Luteoma of pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["leuteoma of pregnancy"], "xref": ["DOID:7880", "MEDGEN:137726", "MESH:D018311", "NCIT:C40445", "UMLS:C0334209"]}
{"category": ["biolink:Disease"], "description": "Infestations with arthropods of the subclass acari, superorder Acariformes.", "id": "MONDO:0004389", "name": "Mite infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:7894", "ICD9:133", "ICD9:133.9", "MEDGEN:7661", "MESH:D008924", "SCTID:240885009", "UMLS:C0026229"]}
{"category": ["biolink:Disease"], "description": "Abnormally low intraocular pressure often related to chronic inflammation (uveitis).", "id": "MONDO:0004390", "name": "Ocular hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypotony of eye"], "xref": ["DOID:790", "ICD10CM:H44.4", "ICD9:360.3", "ICD9:360.30", "MEDGEN:10424", "MESH:D015814", "SCTID:19721008", "UMLS:C0028841"]}
{"category": ["biolink:Disease"], "description": "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.", "id": "MONDO:0004392", "name": "Intracranial extraskeletal myxoid chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intracranial extraskeletal myxoid chondrosarcoma"], "xref": ["DOID:7903", "GARD:0023973", "MEDGEN:232660", "NCIT:C5462", "UMLS:C1334238"]}
{"category": ["biolink:Disease"], "description": "A tumor of mixed cell type with astrocytic components as well as ependymoma components.", "id": "MONDO:0004393", "name": "Mixed astrocytoma-ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed astrocytoma-ependymoma"], "xref": ["DOID:7907", "GARD:0023974", "MEDGEN:76166", "NCIT:C8271", "UMLS:C0280791"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.", "id": "MONDO:0004394", "name": "Maxillary sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["epidermoid carcinoma of maxillary antrum", "epidermoid carcinoma of maxillary sinus", "epidermoid carcinoma of maxillofacial sinus", "epidermoid carcinoma of the maxillary antrum", "epidermoid carcinoma of the maxillary sinus", "maxillary antrum epidermoid carcinoma", "maxillary antrum squamous cell carcinoma", "maxillary sinus epidermoid carcinoma", "maxillary sinus squamous cell carcinoma", "maxillofacial sinus epidermoid carcinoma", "maxillofacial sinus squamous cell carcinoma", "squamous cell carcinoma of maxillary antrum", "squamous cell carcinoma of maxillary sinus", "squamous cell carcinoma of maxillofacial sinus", "squamous cell carcinoma of the maxillary antrum", "squamous cell carcinoma of the maxillary sinus", "squamous cell carcinoma of the maxillofacial sinus"], "xref": ["DOID:7910", "GARD:0023975", "MEDGEN:277348", "NCIT:C6064", "SCTID:707354003", "UMLS:C1334647", "icd11.foundation:1253589818"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the meninges of the cervical region of the spinal cord.", "id": "MONDO:0004396", "name": "Cervical spinal canal and spinal cord meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical intraspinal meningioma", "meningioma of cervical spinal canal and spinal cord"], "xref": ["DOID:7915", "GARD:0023976", "MEDGEN:272451", "NCIT:C5296", "UMLS:C1332916"]}
{"category": ["biolink:Disease"], "description": "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.", "id": "MONDO:0004397", "name": "Benign mediastinal psammomatous neurilemmoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign mediastinal psammomatous schwannoma", "benign psammomatous neurilemmoma of mediastinum", "benign psammomatous neurilemmoma of the mediastinum", "benign psammomatous schwannoma of mediastinum", "benign psammomatous schwannoma of the mediastinum"], "xref": ["DOID:7921", "GARD:0023977", "MEDGEN:231937", "NCIT:C6636", "UMLS:C1332513"]}
{"category": ["biolink:Disease"], "description": "A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.", "id": "MONDO:0004398", "name": "Mediastinal schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign mediastinal neurilemmoma", "benign mediastinal schwannoma", "benign neurilemmoma of mediastinum", "benign neurilemmoma of the mediastinum", "benign schwannoma of mediastinum", "benign schwannoma of the mediastinum", "mediastinal neurilemmoma", "mediastinal schwannoma", "mediastinum schwannoma", "neurilemmoma of mediastinum", "neurilemmoma of the mediastinum", "schwannoma of mediastinum", "schwannoma of the mediastinum"], "xref": ["DOID:6175", "DOID:7922", "GARD:0023978", "MEDGEN:233688", "NCIT:C6643", "UMLS:C1334679"]}
{"category": ["biolink:Disease"], "description": "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.", "id": "MONDO:0004400", "name": "Malignant type a thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant type A thymoma"], "xref": ["DOID:7927", "GARD:0023979", "ICDO:8581/3", "MEDGEN:79027", "NCIT:C7999", "UMLS:C0279707"]}
{"category": ["biolink:Disease"], "description": "Malignant testicular germ cell tumor that is resistant to treatment.", "id": "MONDO:0004401", "name": "Testis refractory cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["refractory cancer of testis", "refractory cancer of the testis", "refractory malignant testicular germ cell tumor", "refractory malignant testicular germ cell tumour", "refractory testicular cancer"], "xref": ["DOID:7928", "GARD:0023980", "MEDGEN:235122", "NCIT:C9077", "UMLS:C1377904"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.", "id": "MONDO:0004402", "name": "Testicular yolk sac tumor, glandular-alveolar pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, glandular-alveolar pattern"], "xref": ["DOID:7930", "GARD:0023981", "MEDGEN:273637", "NCIT:C39926", "UMLS:C1515305"]}
{"category": ["biolink:Disease"], "description": "A T lymphoblastic leukemia/lymphoma that occurs during childhood.", "id": "MONDO:0004403", "name": "Childhood precursor t-lymphoblastic lymphoma/leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood T lymphoblastic leukemia/lymphoma", "childhood precursor T-lymphoblastic lymphoma/leukemia", "paediatric precursor T-lymphoblastic lymphoma/leukemia", "pediatric precursor T-lymphoblastic lymphoma/leukemia", "precursor T-lymphoblastic lymphoma/leukemia of childhood"], "xref": ["DOID:7933", "GARD:0023982", "MEDGEN:232067", "NCIT:C5640", "UMLS:C1332997"]}
{"category": ["biolink:Disease"], "description": "T-lymphoblastic leukemia/lymphoma resistant to treatment", "id": "MONDO:0004404", "name": "Refractory precursor t-lymphoblastic lymphoma/leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["precursor T lymphoblastic lymphoma/leukemia refractory", "refractory T lymphoblastic leukemia/lymphoma", "refractory precursor T-lymphoblastic lymphoma/leukemia"], "xref": ["DOID:7936", "GARD:0023983", "MEDGEN:167728", "NCIT:C8696", "UMLS:C0854859"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002", "id": "MONDO:0004405", "name": "Barrett adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Barrett adenocarcinoma", "Barrett's adenocarcinoma", "adenocarcinoma arising in Barrett's mucosa"], "xref": ["DOID:7941", "EFO:1001939", "GARD:0023984", "MEDGEN:272350", "NCIT:C7027", "SCTID:721617001", "UMLS:C1332460", "icd11.foundation:1934528268"]}
{"category": ["biolink:Disease"], "description": "A mixed germ cell tumor of central nervous system that occurs in an adult.", "id": "MONDO:0004406", "name": "Adult central nervous system mixed germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult central nervous system mixed germ cell tumor", "adult mixed germ cell tumor of central nervous system", "adult mixed germ cell tumour of central nervous system", "mixed germ cell tumor of central nervous system of adults", "mixed germ cell tumour of central nervous system of adults"], "xref": ["DOID:7945", "GARD:0023985", "MEDGEN:231038", "NCIT:C27402", "UMLS:C1332195"]}
{"category": ["biolink:Disease"], "description": "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.", "id": "MONDO:0004407", "name": "Stroma-dominant and stroma-poor composite ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor"], "xref": ["DOID:7949", "GARD:0023986", "MEDGEN:275793", "NCIT:C42060", "UMLS:C1516761"]}
{"category": ["biolink:Disease"], "description": "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.", "id": "MONDO:0004408", "name": "Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor"], "xref": ["DOID:7951", "GARD:0023987", "MEDGEN:275792", "NCIT:C42059", "UMLS:C1516760"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that develops in the ducts of the nipple.", "id": "MONDO:0004409", "name": "Nipple duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nipple duct carcinoma"], "xref": ["DOID:7953", "MEDGEN:233757", "NCIT:C27234", "UMLS:C1334967"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.", "id": "MONDO:0004410", "name": "Sarcomatoid penile squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["sarcomatoid carcinoma of the penis", "sarcomatoid penile carcinoma", "sarcomatoid penile squamous cell carcinoma", "sarcomatous carcinoma of the penis", "spindle cell carcinoma of the penis", "squamous cell carcinoma of penis, sarcomatoid type", "squamous cell carcinoma of the penis, sarcomatoid type"], "xref": ["DOID:7958", "GARD:0023988", "MEDGEN:235580", "NCIT:C6984", "UMLS:C1335923"]}
{"category": ["biolink:Disease"], "description": "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.", "id": "MONDO:0004411", "name": "Duodenal gastrin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["duodenal G-cell gastrin producing tumor", "duodenal G-cell gastrin producing tumour", "duodenal gastrin-producing NET", "duodenal gastrin-producing neuroendocrine tumor", "duodenal gastrinoma", "duodenum gastrin-producing neuroendocrine tumor", "duodenum gastrin-producing neuroendocrine tumour", "gastrin producing tumor of duodenum", "gastrin producing tumor of the duodenum", "gastrin producing tumour of duodenum", "gastrin producing tumour of the duodenum", "gastrin-producing neuroendocrine tumor of duodenum", "gastrin-producing neuroendocrine tumour of duodenum", "gastrinoma of duodenum", "gastrinoma of the duodenum"], "xref": ["DOID:7959", "GARD:0023989", "MEDGEN:272550", "NCIT:C5731", "UMLS:C1333321"]}
{"category": ["biolink:Disease"], "description": "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.", "id": "MONDO:0004412", "name": "Malignant spiradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Spiradenocarcinoma", "malignant eccrine spiradenoma", "malignant eccrine spiradenoma (morphologic abnormality)", "malignant spiradenoma", "spiradenoma, malignant"], "xref": ["DOID:7960", "GARD:0010466", "ICDO:8403/3", "MEDGEN:266097", "NCIT:C5117", "SCTID:403942003", "UMLS:C1266063"]}
{"category": ["biolink:Disease"], "description": "A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.", "id": "MONDO:0004413", "name": "Cervical non-keratinizing squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:7961", "GARD:0023990", "MEDGEN:309426", "NCIT:C40188", "UMLS:C1518366"]}
{"category": ["biolink:Disease"], "description": "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.", "id": "MONDO:0004414", "name": "Tamoxifen-related endometrial lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tamoxifen-related endometrial disorder"], "xref": ["DOID:7962", "MEDGEN:271571", "NCIT:C40159", "UMLS:C1515212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004415", "name": "Lipid-cell variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, Lipid-cell variant"], "xref": ["DOID:7967", "GARD:0023991", "MEDGEN:268928", "NCIT:C39828", "UMLS:C1512738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004416", "name": "Plasmacytoid variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, plasmacytoid variant"], "xref": ["DOID:7968", "GARD:0023992", "MEDGEN:268576", "NCIT:C39823", "ONCOTREE:SRCBC", "UMLS:C1512742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004417", "name": "Nested variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, nested variant"], "xref": ["DOID:7969", "GARD:0023993", "MEDGEN:268575", "NCIT:C39819", "UMLS:C1512741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004418", "name": "Microcystic variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, microcystic variant"], "xref": ["DOID:7971", "GARD:0023994", "MEDGEN:268574", "NCIT:C39820", "UMLS:C1512740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004419", "name": "Lymphoma-like variant infiltrating bladder urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infiltrating bladder urothelial carcinoma, lymphoma-like variant"], "xref": ["DOID:7972", "GARD:0023995", "NCIT:C39822"]}
{"category": ["biolink:Disease"], "description": "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.", "id": "MONDO:0004420", "name": "Breast malignant eccrine spiradenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast malignant spiradenoma", "malignant breast eccrine spiradenoma", "malignant eccrine spiradenoma of breast", "malignant eccrine spiradenoma of the breast", "malignant spiradenoma of breast"], "xref": ["DOID:7983", "GARD:0027680", "MEDGEN:277329", "NCIT:C5180", "UMLS:C1334565"]}
{"category": ["biolink:Disease"], "description": "A breast papilloma characterized by the presence of predominant sclerosing architectural features.", "id": "MONDO:0004421", "name": "Sclerosing breast papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Complex sclerosing papillary lesion", "Complex sclerosing papillary lesion of the breast", "sclerosing breast papilloma"], "xref": ["DOID:7984", "MEDGEN:233436", "NCIT:C27944", "UMLS:C1335932"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the falx cerebri.", "id": "MONDO:0004422", "name": "Cerebral falx meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Falcine meningioma", "falx cerebri meningioma", "falx cerebri meningioma (disease)", "meningioma (disease) of falx cerebri", "meningioma of cerebral falx", "meningioma of falx cerebri", "meningioma of falx of cerebrum", "meningioma of the cerebral falx", "meningioma of the falx cerebri", "meningioma of the falx of the cerebrum"], "xref": ["DOID:7986", "GARD:0023996", "MEDGEN:272627", "NCIT:C5267", "UMLS:C1333597"]}
{"category": ["biolink:Disease"], "description": "An osteosarcoma arising from the brain or spinal cord.", "id": "MONDO:0004423", "name": "Central nervous system extraskeletal osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system extraskeletal osteosarcoma", "central nervous system osteosarcoma (disease)", "osteosarcoma of central nervous system", "osteosarcoma of the central nervous system"], "xref": ["DOID:7994", "GARD:0023997", "MEDGEN:233803", "NCIT:C7002", "UMLS:C1335150"]}
{"category": ["biolink:Disease"], "description": "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.", "id": "MONDO:0004425", "name": "Hyperthyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["overactive thyroid"], "xref": ["DOID:7998", "EFO:0009189", "ICD9:242.90", "MEDGEN:6972", "MESH:D006980", "NANDO:2100119", "NANDO:2200329", "NCIT:C3123", "SCTID:34486009", "UMLS:C0020550"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the frontal sulcus.", "id": "MONDO:0004426", "name": "Frontal convexity meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8000", "GARD:0023998", "MEDGEN:234272", "NCIT:C5292", "UMLS:C1333643"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the supraglottic area of the larynx.", "id": "MONDO:0004427", "name": "Supraglottis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of supraglottic part of larynx", "neoplasm of supraglottis", "neoplasm of the supraglottis", "supraglottic neoplasm", "supraglottic part of larynx neoplasm", "supraglottic part of larynx neoplasm (disease)", "supraglottic part of larynx tumor", "supraglottic part of larynx tumour", "supraglottic tumor", "supraglottic tumour", "supraglottis neoplasm", "supraglottis tumor", "supraglottis tumour", "tumor of supraglottic part of larynx", "tumor of supraglottis", "tumor of the supraglottis", "tumour of supraglottic part of larynx", "tumour of supraglottis", "tumour of the supraglottis"], "xref": ["DOID:8002", "MEDGEN:87512", "NCIT:C6793", "SCTID:126697005", "UMLS:C0345726"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.", "id": "MONDO:0004428", "name": "Alveoli adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoma of alveoli", "adenoma of the alveoli", "adenoma, bronchioloalveolar, benign", "alveolar adenoma", "alveolar adenoma (morphologic abnormality)"], "xref": ["DOID:8003", "ICDO:8251/0", "MEDGEN:137740", "NCIT:C4140", "UMLS:C0334303"]}
{"category": ["biolink:Disease"], "description": "A meningioma (disease) that involves the zone of skin.", "id": "MONDO:0004429", "name": "Skin meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of zone of skin", "zone of skin meningioma (disease)"], "xref": ["DOID:8006", "GARD:0023999", "MEDGEN:698541", "UMLS:C1275260"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).", "id": "MONDO:0004430", "name": "Penis mixed squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed squamous cell carcinoma of the penis"], "xref": ["DOID:8009", "GARD:0024000", "MEDGEN:268711", "NCIT:C39959", "UMLS:C1513369"]}
{"category": ["biolink:Disease"], "description": "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.", "id": "MONDO:0004431", "name": "Hemarthrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:801", "EFO:1001344", "ICD10CM:M25.0", "ICD9:719.1", "ICD9:719.10", "ICD9:719.18", "MEDGEN:5479", "MESH:D006395", "SCTID:81808003", "UMLS:C0018924"]}
{"category": ["biolink:Disease"], "description": "A benign teratoma that arises from the pericardium.", "id": "MONDO:0004432", "name": "Mature pericardial teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mature pericardial teratoma", "mature teratoma of pericardium", "mature teratoma of the pericardium", "pericardium mature teratoma"], "xref": ["DOID:8012", "GARD:0024001", "MEDGEN:233673", "NCIT:C6744", "UMLS:C1334638"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.", "id": "MONDO:0004433", "name": "Papillary carcinoma of the penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["papillary carcinoma of penis", "papillary carcinoma of the penis", "papillary penile carcinoma", "papillary penile squamous carcinoma", "papillary squamous carcinoma of penis", "papillary squamous carcinoma of the penis", "penis papillary carcinoma", "squamous carcinoma of penis, papillary type", "squamous carcinoma of the penis, papillary type"], "xref": ["DOID:8013", "GARD:0024002", "MEDGEN:235455", "NCIT:C6983", "UMLS:C1335322"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.", "id": "MONDO:0004435", "name": "Liver fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fibrosarcoma of liver", "fibrosarcoma of the liver", "hepatic fibrosarcoma", "liver fibrosarcoma", "liver fibrosarcoma (disease)"], "xref": ["DOID:8022", "GARD:0024003", "MEDGEN:232274", "NCIT:C5832", "UMLS:C1333966"]}
{"category": ["biolink:Disease"], "description": "A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.", "id": "MONDO:0004436", "name": "Ovarian myxoid liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myxoid liposarcoma of ovary", "myxoid liposarcoma of the ovary", "ovarian myxoid liposarcoma", "ovary myxoid liposarcoma"], "xref": ["DOID:8023", "GARD:0024004", "MEDGEN:235420", "NCIT:C5235", "UMLS:C1335170"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the breast and is not caused by inherited genetic mutations.", "id": "MONDO:0004438", "name": "Sporadic breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sporadic breast cancer", "sporadic breast carcinoma"], "xref": ["DOID:8029", "MEDGEN:233463", "NCIT:C7566", "UMLS:C1336076"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the periocular region.", "id": "MONDO:0004439", "name": "Periocular meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8030", "GARD:0024005", "NCIT:C6777"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the pineal gland.", "id": "MONDO:0004440", "name": "Pineal region meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of pineal body", "meningioma of pineal area", "meningioma of pineal gland", "meningioma of pineal region", "meningioma of the pineal area", "meningioma of the pineal gland", "meningioma of the pineal region", "pineal area meningioma", "pineal body meningioma (disease)", "pineal gland meningioma", "pineal meningioma"], "xref": ["DOID:8031", "GARD:0024006", "MEDGEN:235478", "NCIT:C6756", "UMLS:C1335418"]}
{"category": ["biolink:Disease"], "description": "An embryonal carcinoma that arises from the ovary and occurs in children.", "id": "MONDO:0004441", "name": "Childhood ovarian embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood embryonal carcinoma of ovary", "ovarian embryonal carcinoma of childhood", "paediatric embryonal carcinoma of ovary", "paediatric embryonal carcinoma of the ovary", "paediatric ovarian embryonal carcinoma", "pediatric embryonal carcinoma of ovary", "pediatric embryonal carcinoma of the ovary", "pediatric ovarian embryonal carcinoma"], "xref": ["DOID:8036", "GARD:0024007", "MEDGEN:232352", "NCIT:C6546", "UMLS:C1332989"]}
{"category": ["biolink:Disease"], "description": "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.", "id": "MONDO:0004442", "name": "Testis polyembryoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["polyembryoma of testis", "polyembryoma of the testis", "testicular polyembryoma"], "xref": ["DOID:8042", "GARD:0024008", "MEDGEN:271324", "NCIT:C40962", "UMLS:C1514200"]}
{"category": ["biolink:Disease"], "description": "A parachordoma arising from the chest wall.", "id": "MONDO:0004443", "name": "Chest wall parachordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chest wall parachordoma", "parachordoma of chest wall", "parachordoma of the chest wall"], "xref": ["DOID:8043", "MEDGEN:232339", "NCIT:C6720", "UMLS:C1332934"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.", "id": "MONDO:0004444", "name": "Bladder tubulo-cystic clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder tubulo-cystic clear cell adenocarcinoma"], "xref": ["DOID:8050", "MEDGEN:267060", "NCIT:C39847", "UMLS:C1511203"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.", "id": "MONDO:0004445", "name": "Bladder papillary clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder papillary clear cell adenocarcinoma"], "xref": ["DOID:8051", "MEDGEN:307286", "NCIT:C39848", "UMLS:C1511196"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the olfactory sulcus.", "id": "MONDO:0004446", "name": "Olfactory groove meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of olfactory sulcus", "meningioma of olfactory groove", "meningioma of the olfactory groove", "olfactory sulcus meningioma (disease)"], "xref": ["DOID:8057", "GARD:0024009", "MEDGEN:235402", "NCIT:C6771", "UMLS:C1335107", "icd11.foundation:1489164089"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the pituitary stalk.", "id": "MONDO:0004447", "name": "Pituitary stalk meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of pituitary stalk", "meningioma of pituitary stalk", "meningioma of the pituitary stalk", "pituitary stalk meningioma (disease)"], "xref": ["DOID:8058", "GARD:0024010", "MEDGEN:233858", "NCIT:C5311", "UMLS:C1335422"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.", "id": "MONDO:0004448", "name": "Frontal sinus inverted papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["frontal sinus inverted papilloma", "inverted papilloma of frontal sinus", "inverted papilloma of the frontal sinus"], "xref": ["DOID:8060", "GARD:0024011", "MEDGEN:272638", "NCIT:C6842", "UMLS:C1333644"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.", "id": "MONDO:0004449", "name": "Intraductal breast myoepitheliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8068", "MEDGEN:268972", "NCIT:C40387", "UMLS:C1512935"]}
{"category": ["biolink:Disease"], "description": "A occlusion precerebral artery that involves the carotid artery segment.", "id": "MONDO:0004450", "name": "Carotid artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carotid artery segment occlusion precerebral artery", "occlusion precerebral artery of carotid artery segment"], "xref": ["DOID:807", "ICD9:433.10", "MEDGEN:539079", "SCTID:266254007", "UMLS:C0265101"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.", "id": "MONDO:0004451", "name": "Sarcomatous intrahepatic cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intrahepatic cholangiocarcinoma with extensive sarcomatous changes", "sarcomatoid intrahepatic cholangiocarcinoma"], "xref": ["DOID:8072", "GARD:0024012", "MEDGEN:275403", "NCIT:C41620", "UMLS:C1519184"]}
{"category": ["biolink:Disease"], "description": "A germinoma arising from the central nervous system during childhood.", "id": "MONDO:0004452", "name": "Childhood central nervous system germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system germinoma of childhood", "paediatric central nervous system germinoma", "pediatric central nervous system germinoma"], "xref": ["DOID:8078", "GARD:0024013", "MEDGEN:272460", "NCIT:C27406", "UMLS:C1332953"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.", "id": "MONDO:0004453", "name": "Testicular yolk sac tumor, myxomatous pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, myxomatous pattern"], "xref": ["DOID:8081", "GARD:0024014", "MEDGEN:271774", "NCIT:C39929", "UMLS:C1515309"]}
{"category": ["biolink:Disease"], "description": "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.", "id": "MONDO:0004454", "name": "Cellular congenital mesoblastic nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cellular congenital mesoblastic nephroma"], "xref": ["DOID:8082", "GARD:0024015", "MEDGEN:729112", "NCIT:C39815", "UMLS:C1320471"]}
{"category": ["biolink:Disease"], "description": "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.", "id": "MONDO:0004455", "name": "Classic congenital mesoblastic nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classic congenital mesoblastic nephroma"], "xref": ["DOID:8083", "GARD:0024016", "MEDGEN:273923", "NCIT:C39814", "UMLS:C1516475"]}
{"category": ["biolink:Disease"], "description": "Disorders related or resulting from use of cocaine.", "id": "MONDO:0004456", "name": "Cocaine abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:809", "ICD10CM:F14.1", "ICD9:305.6", "ICD9:305.60", "MEDGEN:3136", "SCTID:78267003", "UMLS:C0009171"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.", "id": "MONDO:0004457", "name": "Maxillary sinus schneiderian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schneiderian papilloma of the maxillary sinus", "maxillary sinus Schneiderian papilloma", "maxillary sinus paranasal sinus Schneiderian papilloma", "paranasal sinus Schneiderian papilloma of maxillary sinus"], "xref": ["DOID:8093", "GARD:0024017", "MEDGEN:235306", "NCIT:C6839", "UMLS:C1334646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004458", "name": "Bladder mixed adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8096", "MEDGEN:267372", "NCIT:C39839", "UMLS:C1511192"]}
{"category": ["biolink:Disease"], "description": "A hepatoid adenocarcinoma that involves the urinary bladder.", "id": "MONDO:0004459", "name": "Bladder hepatoid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder hepatoid adenocarcinoma"], "xref": ["DOID:8097", "MEDGEN:267739", "NCIT:C39838", "UMLS:C1511189"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland adenoma composed of microfollicular structures.", "id": "MONDO:0004460", "name": "Thyroid gland fetal adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["microfollicular adenoma", "microfollicular adenoma (morphologic abnormality)", "thyroid fetal adenoma", "thyroid foetal adenoma", "thyroid gland microfollicular adenoma"], "xref": ["DOID:8102", "GARD:0024018", "ICDO:8333/0", "MEDGEN:137743", "NCIT:C4160", "UMLS:C0334328"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.", "id": "MONDO:0004461", "name": "Vaginal tubulovillous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vaginal tubulovillous adenoma"], "xref": ["DOID:8104", "MEDGEN:275576", "NCIT:C40258", "UMLS:C1519933"]}
{"category": ["biolink:Disease"], "description": "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.", "id": "MONDO:0004462", "name": "Extrahepatic bile duct cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystadenoma of extrahepatic bile duct", "cystadenoma of the extrahepatic bile duct", "extrahepatic bile duct cystadenoma", "extrahepatic bile duct mucinous cystic neoplasm"], "xref": ["DOID:8105", "MEDGEN:272603", "NCIT:C5851", "UMLS:C1333504"]}
{"category": ["biolink:Disease"], "description": "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.", "id": "MONDO:0004463", "name": "Cellular phase chronic idiopathic myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Prefibrotic/Early Primary myelofibrosis", "chronic idiopathic myelofibrosis, Prefibrotic stage", "chronic idiopathic myelofibrosis, cellular phase", "primary myelofibrosis, Prefibrotic stage", "primary myelofibrosis, Prefibrotic/early stage"], "xref": ["DOID:8106", "GARD:0024019", "MEDGEN:275741", "NCIT:C41237", "ONCOTREE:PMFPES", "UMLS:C1516553"]}
{"category": ["biolink:Disease"], "description": "A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.", "id": "MONDO:0004464", "name": "Nephrogenic adenoma of the urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nephrogenic adenoma of urethra", "urethra nephrogenic adenoma", "urethral nephrogenic adenoma"], "xref": ["DOID:8109", "MEDGEN:277847", "NCIT:C7416", "UMLS:C1336889"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the periampullary region.", "id": "MONDO:0004465", "name": "Periampullary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["periampullary adenocarcinoma", "periampullary cancer", "periampullary region of duodenum adenocarcinoma"], "xref": ["DOID:8110", "GARD:0024020", "MEDGEN:233847", "NCIT:C27322", "UMLS:C1335377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004466", "name": "Neuronitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8117", "MEDGEN:45064", "NCIT:C34847", "UMLS:C0027881"]}
{"category": ["biolink:Disease"], "description": "A benign teratoma that arises from the stomach.", "id": "MONDO:0004467", "name": "Mature gastric teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mature gastric teratoma", "mature teratoma of stomach", "mature teratoma of the stomach", "stomach mature teratoma"], "xref": ["DOID:8118", "GARD:0024021", "MEDGEN:233165", "NCIT:C5260", "UMLS:C1334635"]}
{"category": ["biolink:Disease"], "description": "Paget disease involving the squamous epithelium of the anal canal.", "id": "MONDO:0004468", "name": "Anal canal paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget disease of the anal canal", "Paget's disease of anal canal", "Paget's disease of the anal canal", "anal canal Paget disease", "anal canal Paget's disease", "anal canal mammary Paget's disease"], "xref": ["DOID:8119", "GARD:0024022", "MEDGEN:231062", "NCIT:C7477", "SCTID:236811000119101", "UMLS:C1332261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004469", "name": "Pseudovascular skin squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pseudovascular skin squamous cell carcinoma"], "xref": ["DOID:8122", "MEDGEN:233447", "NCIT:C27542", "UMLS:C1335974"]}
{"category": ["biolink:Disease"], "description": "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.", "id": "MONDO:0004471", "name": "Bacterial arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pyogenic arthritis", "septic arthritis"], "xref": ["DOID:813", "EFO:1001351", "GARD:0027681", "ICD9:711.0", "ICD9:711.40", "ICD9:711.9", "ICD9:711.90", "ICD9:711.91", "ICD9:711.92", "ICD9:711.93", "ICD9:711.94", "ICD9:711.95", "ICD9:711.96", "ICD9:711.97", "MEDGEN:308434", "MESH:D001170", "NANDO:2200437", "NCIT:C26699", "SCTID:48245008", "UMLS:C1692886"]}
{"category": ["biolink:Disease"], "description": "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.", "id": "MONDO:0004472", "name": "Breast columnar cell mucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast columnar cell mucinous carcinoma"], "xref": ["DOID:8130", "MEDGEN:307307", "NCIT:C40355", "UMLS:C1511305"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.", "id": "MONDO:0004473", "name": "Epiglottis cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of epiglottis", "epiglottic cancer", "epiglottic throat cancer", "epiglottis cancer", "malignant Epiglottis neoplasm", "malignant Epiglottis tumor", "malignant Epiglottis tumour", "malignant epiglottic neoplasm", "malignant epiglottic tumor", "malignant epiglottic tumour", "malignant epiglottis neoplasm", "malignant neoplasm of Epiglottis", "malignant neoplasm of anterior epiglottis", "malignant neoplasm of epiglottis", "malignant neoplasm of the Epiglottis", "malignant tumor of Epiglottis", "malignant tumor of the Epiglottis", "malignant tumour of Epiglottis", "malignant tumour of the Epiglottis"], "xref": ["DOID:8133", "GARD:0027682", "ICD10CM:C10.1", "ICD9:146.4", "MEDGEN:249035", "NCIT:C35697", "NCIT:C4836", "SCTID:187681002", "UMLS:C1112382", "icd11.foundation:368785482"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.", "id": "MONDO:0004474", "name": "Gallbladder lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder lymphoma", "gallbladder lymphoma", "lymphoma of gall bladder", "lymphoma of gallbladder", "lymphoma of the gallbladder", "primary gallbladder lymphoma"], "xref": ["DOID:8135", "GARD:0024023", "MEDGEN:232224", "NCIT:C5734", "UMLS:C1333748"]}
{"category": ["biolink:Disease"], "description": "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.", "id": "MONDO:0004475", "name": "Thymus clear cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thymus clear cell carcinoma", "clear cell carcinoma of Thymus", "clear cell carcinoma of the Thymus", "thymic clear cell carcinoma", "thymus clear cell carcinoma"], "xref": ["DOID:8137", "GARD:0024024", "MEDGEN:272488", "NCIT:C6462", "UMLS:C1333069"]}
{"category": ["biolink:Disease"], "description": "A ganglioneuroblastoma arising from the adrenal gland.", "id": "MONDO:0004477", "name": "Adrenal gland ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adrenal ganglioneuroblastoma", "adrenal gland ganglioneuroblastoma", "adrenal gland ganglioneuroblastoma (disease)", "ganglioneuroblastoma (disease) of adrenal gland"], "xref": ["DOID:8140", "GARD:0024025", "MEDGEN:231355", "NCIT:C7646", "UMLS:C1332176"]}
{"category": ["biolink:Disease"], "description": "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.", "id": "MONDO:0004478", "name": "Pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CLL/SLL with unmutated IGVH", "chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene", "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma"], "xref": ["DOID:8144", "GARD:0024026", "MEDGEN:234146", "NCIT:C37204", "UMLS:C1333038"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that occurs during childhood.", "id": "MONDO:0004479", "name": "Malignant childhood germ cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant childhood germ cell neoplasm", "malignant paediatric germ cell tumour", "malignant pediatric germ cell tumor"], "xref": ["DOID:8149", "GARD:0024027", "MEDGEN:233150", "NCIT:C6541", "UMLS:C1334574"]}
{"category": ["biolink:Disease"], "description": "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.", "id": "MONDO:0004481", "name": "Pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma", "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma", "pancreatic invasive intraductal papillary-mucinous carcinoma"], "xref": ["DOID:8150", "GARD:0024028", "ICDO:8453/3", "MEDGEN:275329", "NCIT:C5726", "UMLS:C1518871"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.", "id": "MONDO:0004482", "name": "Fibroosseous pseudotumor of the digits", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroosseous digital pseudotumor", "fibroosseous pseudotumor of digits", "fibroosseous pseudotumor of the digits"], "xref": ["DOID:8153", "ICD9:215.9", "MEDGEN:232507", "NCIT:C6573", "SCTID:403991009", "UMLS:C1333612"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.", "id": "MONDO:0004483", "name": "Thyroid gland oncocytic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign oncocytoma of the thyroid", "thyroid gland oncocytic adenoma"], "xref": ["DOID:8162", "GARD:0024029", "MEDGEN:237009", "NCIT:C6042", "ONCOTREE:OAT", "UMLS:C1336750"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from the gallbladder.", "id": "MONDO:0004484", "name": "Gallbladder melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["gall bladder melanoma", "gall bladder melanoma (disease)", "gallbladder malignant melanoma", "gallbladder melanoma", "malignant melanoma of gallbladder", "malignant melanoma of the gallbladder", "melanoma (disease) of gall bladder", "melanoma of gallbladder", "melanoma of the gallbladder"], "xref": ["DOID:8167", "GARD:0024030", "MEDGEN:232225", "NCIT:C5735", "UMLS:C1333749"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.", "id": "MONDO:0004485", "name": "Interstitial myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:817", "GARD:0024031", "MEDGEN:44554", "NCIT:C35786", "SCTID:37925008", "UMLS:C0027060"]}
{"category": ["biolink:Disease"], "description": "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.", "id": "MONDO:0004486", "name": "Endocervical type cervical adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical adenomyoma, endocervical type"], "xref": ["DOID:8177", "MEDGEN:275706", "NCIT:C40232", "UMLS:C1516405"]}
{"category": ["biolink:Disease"], "description": "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.", "id": "MONDO:0004487", "name": "Endometrial type cervical adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical adenomyoma, endometrial type"], "xref": ["DOID:8178", "NCIT:C40233"]}
{"category": ["biolink:Disease"], "description": "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.", "id": "MONDO:0004488", "name": "Cervical atypical polypoid adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8179", "MEDGEN:273123", "NCIT:C40234", "UMLS:C1516409"]}
{"category": ["biolink:Disease"], "description": "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.", "id": "MONDO:0004489", "name": "Fallopian tube gestational choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fallopian tube gestational choriocarcinoma", "gestational choriocarcinoma of fallopian tube", "gestational choriocarcinoma of the fallopian tube"], "xref": ["DOID:8186", "GARD:0024032", "MEDGEN:232186", "NCIT:C6278", "UMLS:C1333593"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.", "id": "MONDO:0004491", "name": "Uterine corpus choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus choriocarcinoma (disease)", "body of uterus gestational choriocarcinoma", "gestational choriocarcinoma of body of uterus", "gestational uterine corpus choriocarcinoma", "uterine corpus gestational choriocarcinoma"], "xref": ["DOID:8187", "DOID:8188", "GARD:0024033", "MEDGEN:234466", "NCIT:C27246", "ONCOTREE:UCCA", "UMLS:C1336904"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the mediastinum.", "id": "MONDO:0004492", "name": "Mediastinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:819", "ICD10CM:J98.51", "ICD9:519.2", "MEDGEN:9921", "MESH:D008480", "NCIT:C26827", "SCTID:47597000", "UMLS:C0025064", "icd11.foundation:1612791605"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.", "id": "MONDO:0004493", "name": "Testicular yolk sac tumor, papillary pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, papillary pattern"], "xref": ["DOID:8193", "GARD:0024034", "MEDGEN:308262", "NCIT:C39928", "UMLS:C1515310"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.", "id": "MONDO:0004494", "name": "Testicular yolk sac tumor, hepatoid pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk sac tumor, hepatoid pattern"], "xref": ["DOID:8195", "GARD:0024035", "MEDGEN:272846", "NCIT:C39931", "UMLS:C1515306"]}
{"category": ["biolink:Disease"], "description": "A cataract occurring as a sequela of myotonic dystrophy.", "id": "MONDO:0004495", "name": "Myotonic cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "xref": ["DOID:82", "GARD:0024036", "ICD9:359.29", "ICD9:366.43", "MEDGEN:44565", "NCIT:C34833", "SCTID:64741003", "UMLS:C0027128", "icd11.foundation:1723425593"]}
{"category": ["biolink:Disease"], "description": "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.", "id": "MONDO:0004496", "name": "Myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of myocardium", "myocardial inflammation (finding)", "myocardium inflammation"], "xref": ["DOID:820", "EFO:0009609", "GARD:0007137", "ICD10CM:I40", "ICD9:429.0", "MEDGEN:44553", "MESH:D009205", "NCIT:C34831", "NORD:1882", "SCTID:50920009", "UMLS:C0027059", "icd11.foundation:1018829714"]}
{"category": ["biolink:Disease"], "description": "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).", "id": "MONDO:0004497", "name": "Tertiary syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["late syphilis", "late tertiary syphilis", "tertiary syphilis"], "xref": ["DOID:8200", "GARD:0027683", "ICD10CM:A52", "ICD9:095.8", "ICD9:095.9", "ICD9:097.0", "MEDGEN:56297", "MESH:C536774", "NCIT:C128414", "SCTID:72083004", "UMLS:C0153188"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises from the meninges of the sacral region of the spinal cord.", "id": "MONDO:0004498", "name": "Sacral spinal canal and spinal cord meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of sacral spinal canal and spinal cord", "sacral intraspinal meningioma"], "xref": ["DOID:8203", "GARD:0024037", "MEDGEN:277626", "NCIT:C5299", "UMLS:C1335893"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma arising from the hilum of the lung.", "id": "MONDO:0004499", "name": "Lung hilum carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma of lung hilus", "hilar lung carcinoma", "lung hilum carcinoma", "lung hilus carcinoma"], "xref": ["DOID:8207", "MEDGEN:235266", "NCIT:C7454", "UMLS:C1334445"]}
{"category": ["biolink:Disease"], "description": "A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.", "id": "MONDO:0004500", "name": "Lung superior sulcus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["superior sulcus carcinoma of the lung", "superior sulcus lung carcinoma"], "xref": ["DOID:8208", "MEDGEN:234910", "NCIT:C7779", "UMLS:C1336529"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.", "id": "MONDO:0004501", "name": "Fallopian tube cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cystadenofibroma of fallopian tube", "fallopian tube cystadenofibroma", "fallopian tube serous cystadenofibroma"], "xref": ["DOID:8211", "GARD:0024038", "MEDGEN:273292", "NCIT:C40114", "UMLS:C1517111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004502", "name": "Parapharyngeal meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8216", "GARD:0024039", "NCIT:C5303"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the upper clivus.", "id": "MONDO:0004503", "name": "Upper clivus meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of the upper clivus", "meningioma of upper clivus"], "xref": ["DOID:8221", "GARD:0024040", "MEDGEN:234454", "NCIT:C5290", "UMLS:C1336871"]}
{"category": ["biolink:Disease"], "description": "A urethra cancer that involves the penis.", "id": "MONDO:0004504", "name": "Penile urethral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["penile urethral malignant neoplasm", "penis urethra cancer", "urethra cancer of penis"], "xref": ["DOID:8223", "GARD:0024041", "MEDGEN:275350", "NCIT:C39868", "UMLS:C1518950"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.", "id": "MONDO:0004505", "name": "Central breast papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["large duct breast papilloma", "solitary intraductal breast papilloma"], "xref": ["DOID:8224", "MEDGEN:272446", "NCIT:C36087", "UMLS:C1332896"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.", "id": "MONDO:0004506", "name": "Microscopic breast papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microscopic breast papilloma", "peripheral breast papilloma"], "xref": ["DOID:8225", "MEDGEN:233851", "NCIT:C36088", "UMLS:C1335390"]}
{"category": ["biolink:Disease"], "description": "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.", "id": "MONDO:0004507", "name": "Atypical breast papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atypical breast papilloma"], "xref": ["DOID:8227", "MEDGEN:233997", "NCIT:C36089", "UMLS:C1332346"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.", "id": "MONDO:0004508", "name": "Periapical periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:823", "EFO:1001391", "MEDGEN:45396", "MESH:D010485", "SCTID:39273001", "UMLS:C0031030", "icd11.foundation:1395124674"]}
{"category": ["biolink:Disease"], "description": "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.", "id": "MONDO:0004509", "name": "Intrahepatic biliary papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intrahepatic bile duct papillary neoplasm", "intrahepatic bile duct papillomatosis", "intrahepatic biliary papillomatosis"], "xref": ["DOID:8230", "MEDGEN:233574", "NCIT:C7125", "UMLS:C1334258"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.", "id": "MONDO:0004510", "name": "Inflammatory liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inflammatory liposarcoma"], "xref": ["DOID:8233", "GARD:0024042", "MEDGEN:234588", "NCIT:C6508", "UMLS:C1370890"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the lower clivus.", "id": "MONDO:0004511", "name": "Lower clivus meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma of Lower clivus", "meningioma of the lower clivus"], "xref": ["DOID:8239", "GARD:0024043", "MEDGEN:235264", "NCIT:C5288", "UMLS:C1334434"]}
{"category": ["biolink:Disease"], "description": "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)", "id": "MONDO:0004512", "name": "Meningeal melanomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["melanomatosis of meningeal cluster", "meningeal cluster melanomatosis", "meningeal melanomatosis", "meningeal melanomatosis (morphologic abnormality)"], "xref": ["DOID:8243", "GARD:0024044", "ICDO:8728/3", "MEDGEN:226843", "NCIT:C6891", "UMLS:C1266114"]}
{"category": ["biolink:Disease"], "description": "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.", "id": "MONDO:0004513", "name": "Adult pleomorphic rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult pleomorphic rhabdomyosarcoma", "pleomorphic rhabdomyosarcoma of adults"], "xref": ["DOID:8251", "GARD:0024045", "ICDO:8901/3", "MEDGEN:233966", "NCIT:C27369", "UMLS:C1332211"]}
{"category": ["biolink:Disease"], "description": "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.", "id": "MONDO:0004514", "name": "Chronic rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rhinitis, chronic"], "xref": ["DOID:8252", "ICD10CM:J31.0", "ICD9:472.0", "MEDGEN:3086", "NCIT:C34479", "SCTID:86094006", "UMLS:C0008711", "icd11.foundation:1346915097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004516", "name": "Bulbomembranous urethral cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bulbomembranous urethral malignant neoplasm"], "xref": ["DOID:8259", "GARD:0027684", "MEDGEN:267917", "NCIT:C39869", "UMLS:C1511339"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that involves the ureter.", "id": "MONDO:0004517", "name": "Ureter tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ureter tuberculosis"], "xref": ["DOID:827", "GARD:0024046", "ICD9:016.2", "ICD9:016.20", "MEDGEN:509076", "SCTID:81359005", "UMLS:C0152800"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.", "id": "MONDO:0004518", "name": "Anterior urethra cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anterior urethra malignant neoplasm", "anterior urethra malignant tumor", "anterior urethra malignant tumour", "anterior urethral cancer", "anterior urethral malignant neoplasm", "anterior urethral malignant tumor", "anterior urethral malignant tumour", "malignant neoplasm of anterior urethra", "malignant neoplasm of the anterior urethra", "malignant tumor of anterior urethra", "malignant tumor of the anterior urethra", "malignant tumour of anterior urethra", "malignant tumour of the anterior urethra"], "xref": ["DOID:8272", "GARD:0027685", "MEDGEN:76043", "NCIT:C7641", "UMLS:C0279930"]}
{"category": ["biolink:Disease"], "description": "A rare hemangioma arising from synovium lining surfaces.", "id": "MONDO:0004519", "name": "Synovial angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of synovium", "angioma of the synovium", "hemangioma of layer of synovial tissue", "hemangioma of synovium", "hemangioma of the synovium", "layer of synovial tissue hemangioma", "synovial hemangioma"], "xref": ["DOID:8274", "MEDGEN:234375", "NCIT:C6525", "UMLS:C1336546"]}
{"category": ["biolink:Disease"], "description": "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)", "id": "MONDO:0004520", "name": "Intratubular embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intratubular embryonal carcinoma", "stage 0 testicular embryonal carcinoma", "stage 0 testicular embryonal carcinoma aJCC v6", "stage 0 testicular embryonal carcinoma aJCC v6 and v7", "stage 0 testicular embryonal carcinoma aJCC v7"], "xref": ["DOID:8275", "GARD:0024047", "MEDGEN:1832671", "NCIT:C192096", "NCIT:C7325", "UMLS:C5784893"]}
{"category": ["biolink:Disease"], "description": "An epithelioid sarcoma occurring in adults.", "id": "MONDO:0004521", "name": "Adult epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult epithelioid sarcoma", "epithelioid sarcoma of adults"], "xref": ["DOID:8282", "GARD:0024048", "MEDGEN:124631", "NCIT:C7944", "UMLS:C0279545"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.", "id": "MONDO:0004522", "name": "Infectious peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute generalised peritonitis"], "xref": ["DOID:8283", "EFO:0008588", "ICD10CM:K65", "ICD9:567.8", "ICD9:567.82", "ICD9:567.89", "MEDGEN:688825", "NCIT:C26849", "SCTID:86422009", "UMLS:C1264610"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma of the skin with a prominent clear cell component.", "id": "MONDO:0004523", "name": "Clear cell squamous cell skin carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell squamous cell carcinoma of skin", "clear cell squamous cell carcinoma of the skin", "clear cell squamous cell skin carcinoma"], "xref": ["DOID:8288", "MEDGEN:91064", "NCIT:C4459", "SCTID:254652000", "UMLS:C0345978"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.", "id": "MONDO:0004524", "name": "Thyroid gland atypical follicular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["atypical follicular adenoma", "atypical follicular adenoma (morphologic abnormality)", "thyroid gland atypical follicular adenoma"], "xref": ["DOID:8292", "GARD:0024049", "ICDO:8330/1", "MEDGEN:224756", "NCIT:C27729", "UMLS:C1266046"]}
{"category": ["biolink:Disease"], "description": "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.", "id": "MONDO:0004525", "name": "Scabies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sarcoptes scabiei caused disease or disorder", "Sarcoptes scabiei disease or disorder", "Sarcoptes scabiei infectious disease", "sarcoptic itch"], "xref": ["DOID:8295", "ICD10CM:B86", "ICD10WHO:B86", "ICD9:133.0", "MEDGEN:48566", "MESH:D012532", "NCIT:C34998", "SCTID:128869009", "UMLS:C0036262", "icd11.foundation:876005123"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.", "id": "MONDO:0004526", "name": "Mixed endometrial stromal and smooth muscle tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stromomyoma", "mixed endometrial stromal and smooth muscle neoplasm", "uterine corpus soft tissue neoplasm"], "xref": ["DOID:8302", "MEDGEN:269077", "NCIT:C40178", "NCIT:C40179", "UMLS:C1513364"]}
{"category": ["biolink:Disease"], "description": "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.", "id": "MONDO:0004528", "name": "Lymph node palisaded myofibroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["palisaded lymph node myofibroblastoma", "palisaded myofibroblastoma of lymph node", "palisaded myofibroblastoma of the lymph node"], "xref": ["DOID:8304", "GARD:0024050", "MEDGEN:757257", "NCIT:C6584", "UMLS:C3164851"]}
{"category": ["biolink:Disease"], "description": "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.", "id": "MONDO:0004529", "name": "Non-ossifying fibromyxoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nonossifying fibromyxoid neoplasm", "nonossifying fibromyxoid tumor", "nonossifying fibromyxoid tumour", "nonossifying fibromyxoma"], "xref": ["DOID:8305", "MEDGEN:235395", "NCIT:C6583", "UMLS:C1335063"]}
{"category": ["biolink:Disease"], "description": "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.", "id": "MONDO:0004530", "name": "Early invasive cervical adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical microinvasive adenocarcinoma"], "xref": ["DOID:8307", "GARD:0024051", "MEDGEN:232144", "NCIT:C36096", "UMLS:C1333369"]}
{"category": ["biolink:Disease"], "description": "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.", "id": "MONDO:0004531", "name": "Sclerosing adenosis of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast sclerosing adenosis", "sclerosing adenosis", "sclerosing adenosis of the breast", "sclerosing breast adenosis"], "xref": ["DOID:8310", "MEDGEN:235582", "NCIT:C5205", "SCTID:105261000119101", "UMLS:C1335931"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the auditory system", "id": "MONDO:0004532", "name": "Auditory system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["auditory system cancer", "cancer of auditory system", "malignant auditory system neoplasm", "malignant neoplasm of auditory system"], "xref": ["DOID:833"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from perineural tissues.", "id": "MONDO:0004533", "name": "Perineural angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["perineural hemangioma"], "xref": ["DOID:8331", "MEDGEN:235470", "NCIT:C6526", "UMLS:C1335382"]}
{"category": ["biolink:Disease"], "description": "A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.", "id": "MONDO:0004534", "name": "Microglandular adenosis of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast microglandular adenosis", "microglandular adenosis of the breast"], "xref": ["DOID:8335", "MEDGEN:233705", "NCIT:C5199", "UMLS:C1334753"]}
{"category": ["biolink:Disease"], "description": "A non-gestational choriocarcinoma that arises from the ovary and occurs in children.", "id": "MONDO:0004535", "name": "Childhood choriocarcinoma of the ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood choriocarcinoma of ovary", "childhood ovarian choriocarcinoma", "choriocarcinoma of ovary of childhood", "paediatric choriocarcinoma of ovary", "paediatric choriocarcinoma of the ovary", "paediatric ovarian choriocarcinoma", "pediatric choriocarcinoma of ovary", "pediatric choriocarcinoma of the ovary", "pediatric ovarian choriocarcinoma"], "xref": ["DOID:8336", "GARD:0024052", "MEDGEN:234135", "NCIT:C6549", "UMLS:C1332987"]}
{"category": ["biolink:Disease"], "description": "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.", "id": "MONDO:0004537", "name": "Intestinal variant cervical mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical mucinous adenocarcinoma, intestinal variant", "cervical mucinous adenocarcinoma, intestinal-type"], "xref": ["DOID:8339", "GARD:0024053", "MEDGEN:273124", "NCIT:C40203", "ONCOTREE:ICEMU", "UMLS:C1516422"]}
{"category": ["biolink:Disease"], "description": "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.", "id": "MONDO:0004538", "name": "Endocervical type cervical mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical adenocarcinoma, endocervical type", "cervical mucinous adenocarcinoma, endocervical type"], "xref": ["DOID:8340", "GARD:0024054", "NCIT:C40202"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the aorta.", "id": "MONDO:0004539", "name": "Aortic malignant tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aorta cancer", "aortic malignant neoplasm", "cancer of aorta", "malignant aorta neoplasm", "malignant aortic neoplasm", "malignant neoplasm of aorta", "malignant neoplasm of the aorta", "malignant tumor of aorta", "malignant tumor of the aorta", "malignant tumour of aorta", "malignant tumour of the aorta"], "xref": ["DOID:8352", "MEDGEN:235290", "NCIT:C5375", "UMLS:C1334560"]}
{"category": ["biolink:Disease"], "description": "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.", "id": "MONDO:0004540", "name": "Epithelioid malignant peripheral nerve sheath tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epithelioid MPNST", "epithelioid malignant peripheral nerve sheath tumor", "malignant epithelioid neoplasm of peripheral nerve sheath", "malignant epithelioid neoplasm of the peripheral nerve sheath", "malignant epithelioid peripheral nerve sheath neoplasm", "malignant epithelioid peripheral nerve sheath tumor", "malignant epithelioid peripheral nerve sheath tumour", "malignant epithelioid tumor of peripheral nerve sheath", "malignant epithelioid tumor of the peripheral nerve sheath", "malignant epithelioid tumour of peripheral nerve sheath", "malignant epithelioid tumour of the peripheral nerve sheath"], "xref": ["DOID:8353", "GARD:0024055", "MEDGEN:272104", "NCIT:C6561", "SCTID:404038007", "UMLS:C1321427"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.", "id": "MONDO:0004541", "name": "Pseudoglandular variant testicular seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular seminoma, pseudoglandular variant"], "xref": ["DOID:8358", "GARD:0024056", "MEDGEN:273633", "NCIT:C40958", "UMLS:C1515293"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.", "id": "MONDO:0004542", "name": "Cervical adenosquamous carcinoma, glassy cell variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervical adenosquamous carcinoma, glassy cell variant"], "xref": ["DOID:8361", "GARD:0020500", "MEDGEN:308943", "MESH:C536823", "NCIT:C40212", "ONCOTREE:CEGCC", "Orphanet:213833", "UMLS:C1516407"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.", "id": "MONDO:0004543", "name": "Enteric pattern testicular yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk Sac tumor, enteric pattern"], "xref": ["DOID:8362", "GARD:0024057", "MEDGEN:308261", "NCIT:C39932", "UMLS:C1515304"]}
{"category": ["biolink:Disease"], "description": "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.", "id": "MONDO:0004544", "name": "Chordoid meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chordoid meningioma", "meningioma, chordoid (morphologic abnormality)"], "xref": ["DOID:8368", "GARD:0024058", "MEDGEN:235089", "NCIT:C6908", "ONCOTREE:CHOM", "UMLS:C1370510"]}
{"category": ["biolink:Disease"], "description": "A malignant peripheral nerve sheath tumor occurring during adulthood.", "id": "MONDO:0004545", "name": "Adult malignant schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult MPNST", "adult malignant neoplasm of peripheral nerve sheath", "adult malignant neoplasm of the peripheral nerve sheath", "adult malignant neurilemmoma", "adult malignant peripheral nerve sheath neoplasm", "adult malignant peripheral nerve sheath tumor", "adult malignant peripheral nerve sheath tumour", "adult malignant schwannoma", "adult malignant tumor of peripheral nerve sheath", "adult malignant tumor of the peripheral nerve sheath", "adult malignant tumour of peripheral nerve sheath", "adult malignant tumour of the peripheral nerve sheath"], "xref": ["DOID:8369", "GARD:0024059", "MEDGEN:75845", "NCIT:C7814", "UMLS:C0278622"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the lumbar nerve plexus.", "id": "MONDO:0004546", "name": "Lumbar plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lumbar nerve plexus neoplasm", "lumbar nerve plexus neoplasm (disease)", "lumbar nerve plexus tumor", "lumbar nerve plexus tumour", "lumbar plexus neoplasms", "lumbar plexus tumor", "lumbar plexus tumour", "neoplasm of lumbar nerve plexus", "neoplasm of lumbar plexus", "neoplasm of the lumbar plexus", "tumor of lumbar nerve plexus", "tumor of lumbar plexus", "tumor of the lumbar plexus", "tumour of lumbar nerve plexus", "tumour of lumbar plexus", "tumour of the lumbar plexus"], "xref": ["DOID:8389", "GARD:0024060", "MEDGEN:272802", "NCIT:C5824", "UMLS:C1334437"]}
{"category": ["biolink:Disease"], "description": "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.", "id": "MONDO:0004547", "name": "Reticular pattern testicular yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["testicular yolk Sac tumor, microcystic pattern", "testicular yolk Sac tumor, reticular pattern"], "xref": ["DOID:8392", "GARD:0024061", "MEDGEN:271773", "NCIT:C39923", "UMLS:C1515308"]}
{"category": ["biolink:Disease"], "description": "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.", "id": "MONDO:0004548", "name": "Adult type testicular granulosa cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adult testicular granulosa cell tumor", "adult testicular granulosa cell tumour", "adult type testicular granulosa cell tumor"], "xref": ["DOID:8394", "GARD:0024062", "MEDGEN:272840", "NCIT:C39946", "UMLS:C1515284"]}
{"category": ["biolink:Disease"], "description": "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.", "id": "MONDO:0004549", "name": "Cork-handlers' disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Suberosis", "cork worker's lung", "cork workers lung"], "xref": ["DOID:840", "GARD:0024063", "ICD10CM:J67.3", "ICD9:495.3", "MEDGEN:508891", "SCTID:13394002", "UMLS:C0152108"]}
{"category": ["biolink:Disease"], "description": "A melanoma within the cornea of the eye.", "id": "MONDO:0004550", "name": "Malignant cornea melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cornea melanoma", "cornea melanoma (disease)", "corneal melanoma", "malignant cornea melanoma", "malignant corneal melanoma", "malignant melanoma of cornea", "malignant melanoma of the cornea", "melanoma (disease) of cornea", "melanoma of cornea", "melanoma of the cornea"], "xref": ["DOID:8400", "GARD:0027343", "MEDGEN:138061", "NCIT:C4553", "UMLS:C0346367"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a congenital diverticulum of the lower intestine.", "id": "MONDO:0004551", "name": "Meckel diverticulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Meckel diverticulitis", "Meckel's diverticulum inflammation", "inflammation of Meckel's diverticulum"], "xref": ["DOID:8408", "MEDGEN:75634", "NCIT:C27300", "SCTID:48241004", "UMLS:C0267497", "icd11.foundation:543494453"]}
{"category": ["biolink:Disease"], "description": "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.", "id": "MONDO:0004552", "name": "Microinvasive cervical squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["early invasive cervical squamous cell carcinoma"], "xref": ["DOID:8409", "GARD:0024064", "MEDGEN:272565", "NCIT:C36094", "UMLS:C1333370"]}
{"category": ["biolink:Disease"], "description": "An angiomyolipoma occurring in childhood.", "id": "MONDO:0004554", "name": "Childhood kidney angiomyolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood renal angiomyolipoma", "kidney angiomyolipoma of childhood", "paediatric kidney angiomyolipoma", "paediatric renal angiomyolipoma", "pediatric kidney angiomyolipoma", "pediatric renal angiomyolipoma"], "xref": ["DOID:8410", "GARD:0024065", "MEDGEN:272468", "NCIT:C6565", "UMLS:C1333000"]}
{"category": ["biolink:Disease"], "description": "An angiomyolipoma arising from the kidney.", "id": "MONDO:0004555", "name": "Kidney angiomyolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angiomyolipoma of kidney", "angiomyolipoma of the kidney", "kidney angiomyolipoma", "renal angiomyolipoma"], "xref": ["DOID:8411", "GARD:0024066", "MEDGEN:69146", "NCIT:C3888", "ONCOTREE:RAML", "SCTID:254921004", "UMLS:C0241961"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.", "id": "MONDO:0004556", "name": "Carcinoma arising in nasal papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma arising in nasal papillomatosis"], "xref": ["DOID:8415", "MEDGEN:272434", "NCIT:C27389", "UMLS:C1332840"]}
{"category": ["biolink:Disease"], "description": "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.", "id": "MONDO:0004557", "name": "Congenital fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital fibrosarcoma", "infantile fibrosarcoma", "infantile fibrosarcoma (congenital fibrosarcoma)", "infantile fibrosarcoma (morphologic abnormality)"], "xref": ["DOID:8418", "GARD:0024067", "ICD9:171.9", "ICDO:8814/3", "MEDGEN:87246", "NCIT:C4244", "ONCOTREE:IFS", "SCTID:403996004", "UMLS:C0334459"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland adenoma composed of large size follicles.", "id": "MONDO:0004558", "name": "Thyroid gland macrofollicular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["macrofollicular adenoma", "macrofollicular adenoma (morphologic abnormality)"], "xref": ["DOID:8419", "GARD:0024068", "ICDO:8334/0", "MEDGEN:90763", "NCIT:C4161", "UMLS:C0334329"]}
{"category": ["biolink:Disease"], "description": "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.", "id": "MONDO:0004559", "name": "Malignant glandular tumor of peripheral nerve sheath", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glandular MPNST", "glandular malignant peripheral nerve sheath tumor", "glandular malignant peripheral nerve sheath tumour", "malignant glandular neoplasm of peripheral nerve sheath", "malignant glandular neoplasm of the peripheral nerve sheath", "malignant glandular peripheral nerve sheath neoplasm", "malignant glandular peripheral nerve sheath tumor", "malignant glandular peripheral nerve sheath tumour", "malignant glandular schwannoma", "malignant glandular tumor of peripheral nerve sheath", "malignant glandular tumor of the peripheral nerve sheath", "malignant glandular tumour of the peripheral nerve sheath"], "xref": ["DOID:8420", "GARD:0024069", "ICD9:171.9", "MEDGEN:232558", "NCIT:C6560", "SCTID:699659007", "UMLS:C1333821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004560", "name": "Follicular infundibulum tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basal cell hamartoma with follicular differentiation", "follicular infundibulum neoplasm", "neoplasm of the follicular infundibulum", "tumor of the follicular infundibulum", "tumour of the follicular infundibulum"], "xref": ["DOID:8426", "ICD9:239.2", "MEDGEN:138031", "NCIT:C4469", "SCTID:254694002", "UMLS:C0346006"]}
{"category": ["biolink:Disease"], "description": "A melanoma affecting the retinal portion of the eye. --2003", "id": "MONDO:0004561", "name": "Retinal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant melanoma of retina", "malignant melanoma of the retina", "malignant retinal melanoma", "melanoma (disease) of retina", "melanoma of retina", "melanoma of the retina", "retina melanoma", "retina melanoma (disease)", "retinal melanoma"], "xref": ["DOID:8427", "GARD:0027344", "MEDGEN:163431", "NCIT:C8601", "SCTID:423673009", "UMLS:C0853394"]}
{"category": ["biolink:Disease"], "description": "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.", "id": "MONDO:0004562", "name": "Breast apocrine carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["apocrine breast carcinoma in situ", "apocrine carcinoma in situ of breast", "apocrine carcinoma in situ of the breast"], "xref": ["DOID:8428", "MEDGEN:231073", "NCIT:C5140", "UMLS:C1332315"]}
{"category": ["biolink:Disease"], "description": "Polycythemia that is not pathologic.", "id": "MONDO:0004563", "name": "Physiological polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8431", "GARD:0024070", "MEDGEN:163545", "NCIT:C27311", "UMLS:C0856817"]}
{"category": ["biolink:Disease"], "description": "An anatomic abnormality of the thyroid gland.", "id": "MONDO:0004564", "name": "Thyroid malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thyroid gland malformation"], "xref": ["DOID:8433", "MEDGEN:209098", "NCIT:C27331", "UMLS:C0877367"]}
{"category": ["biolink:Disease"], "description": "Blockage of the normal flow of the intestinal contents within the bowel.", "id": "MONDO:0004565", "name": "Intestinal obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bowel obstruction"], "xref": ["DOID:8437", "ICD9:560.89", "ICD9:560.9", "MEDGEN:43933", "MESH:D007415", "NCIT:C9175", "SCTID:81060008", "UMLS:C0021843"]}
{"category": ["biolink:Disease"], "description": "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.", "id": "MONDO:0004566", "name": "Postgastrectomy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8439", "ICD10CM:K91.1", "ICD9:564.2", "MEDGEN:18588", "MESH:D011178", "SCTID:80193009", "UMLS:C0032763"]}
{"category": ["biolink:Disease"], "description": "Decrease in peristalsis in the absence of a mechanical bowel obstruction.", "id": "MONDO:0004567", "name": "Ileus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8440", "MEDGEN:219874", "MESH:D045823", "NCIT:C37979", "SCTID:710572000", "UMLS:C1258215"]}
{"category": ["biolink:Disease"], "description": "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.", "id": "MONDO:0004568", "name": "Paralytic ileus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paralytic ileus", "paralytic ileus (disease)"], "xref": ["DOID:8442", "HP:0002590", "ICD10CM:K56.0", "ICD9:560.1", "MEDGEN:18293", "NCIT:C93045", "SCTID:55525008", "UMLS:C0030446", "icd11.foundation:1868011045"]}
{"category": ["biolink:Disease"], "description": "A brachial plexus neuropathy caused by an injury in the brachial plexus network of nerves.", "id": "MONDO:0004569", "name": "Brachial plexus neuropathy from injury", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8443", "GARD:0024071", "MEDGEN:507501", "UMLS:C0006091"]}
{"category": ["biolink:Disease"], "description": "Twisting of a loop of bowel that results in intestinal obstruction.", "id": "MONDO:0004570", "name": "Intestinal volvulus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["volvulus"], "xref": ["DOID:8445", "ICD10CM:K56.2", "ICD9:560.2", "MEDGEN:21892", "MESH:D045822", "SCTID:9707006", "UMLS:C0042961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004571", "name": "Intestinal impaction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8448", "ICD9:560.30", "ICD9:560.39", "MEDGEN:581145", "SCTID:62851005", "UMLS:C0392503"]}
{"category": ["biolink:Disease"], "description": "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.", "id": "MONDO:0004572", "name": "Cyclothymic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["affective personality disorder", "cycloid personality", "cyclothymia", "cyclothymic personality"], "xref": ["DOID:845", "ICD10CM:F34.0", "ICD9:301.1", "ICD9:301.10", "ICD9:301.13", "MEDGEN:1198", "MESH:D003527", "SCTID:76105009", "UMLS:C0010598", "icd11.foundation:1427638883"]}
{"category": ["biolink:Disease"], "description": "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)", "id": "MONDO:0004573", "name": "Ariboflavinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["riboflavin deficiency", "vitamin B2 deficiency"], "xref": ["DOID:8454", "ICD10CM:E53.0", "ICD9:266.0", "MEDGEN:1830329", "OMIM:615026", "SCTID:20307000", "UMLS:C5779638"]}
{"category": ["biolink:Disease"], "description": "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.", "id": "MONDO:0004574", "name": "Pyridoxine deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pyridoxine Deficincy"], "xref": ["DOID:8455", "GARD:0004616", "ICD9:266.1", "ICD9:281.8", "MEDGEN:543733", "MESH:D026681", "NCIT:C85221", "SCTID:86448001", "UMLS:C0272013"]}
{"category": ["biolink:Disease"], "description": "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)", "id": "MONDO:0004575", "name": "Choline deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8456", "ICD9:266.2", "MEDGEN:930", "MESH:D002796", "SCTID:238113006", "UMLS:C0008412"]}
{"category": ["biolink:Disease"], "description": "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.", "id": "MONDO:0004577", "name": "Corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Ulcer, corneal", "cornea ulcer disease", "ulcer disease of cornea"], "xref": ["DOID:8463", "HP:0200020", "ICD10CM:H16.0", "ICD9:370.0", "ICD9:370.00", "MEDGEN:40486", "MESH:D003320", "NCIT:C50515", "SCTID:91514001", "UMLS:C0010043", "icd11.foundation:2089700977"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004578", "name": "Flat retinoschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8464", "GARD:0027686", "ICD9:361.11", "MEDGEN:509672", "SCTID:83405000", "UMLS:C0154817"]}
{"category": ["biolink:Disease"], "description": "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.", "id": "MONDO:0004579", "name": "Retinoschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:8465", "GARD:0027687", "ICD9:361.10", "MEDGEN:56292", "MESH:D041441", "NCIT:C85046", "SCTID:44268007", "UMLS:C0152439", "icd11.foundation:1118046584"]}
{"category": ["biolink:Disease"], "description": "Degeneration of the retina.", "id": "MONDO:0004580", "name": "Retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["retina degeneration", "retina, Degeneration Of"], "xref": ["DOID:8466", "MEDGEN:48432", "MESH:D012162", "NCIT:C34979", "SCTID:95695004", "UMLS:C0035304"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the myocardium in acute rheumatic heart disease.", "id": "MONDO:0004582", "name": "Rheumatic myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["acute rheumatic myocarditis", "acute rheumatic myocarditis (disorder) [ambiguous]", "rheumatic myocarditis"], "xref": ["DOID:8481", "GARD:0024072", "ICD10CM:I09.0", "ICD9:391.9", "ICD9:398.0", "MEDGEN:56370", "NCIT:C35202", "SCTID:195136004", "UMLS:C0155557", "icd11.foundation:1177212968"]}
{"category": ["biolink:Disease"], "description": "A partial, temporary occlusion of the retinal artery.", "id": "MONDO:0004583", "name": "Transient retinal arterial occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["transient retinal arterial occlusion"], "xref": ["DOID:8482", "ICD9:362.34", "MEDGEN:102320", "NCIT:C35193", "SCTID:87224000", "UMLS:C0154840"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.", "id": "MONDO:0004584", "name": "Maple bark strippers' lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["alveolitis due to cryptostroma corticale", "maple bark-strippers' lung"], "xref": ["DOID:8484", "GARD:0024073", "ICD10CM:J67.6", "ICD9:495.6", "MEDGEN:510126", "SCTID:86638007", "UMLS:C0155890"]}
{"category": ["biolink:Disease"], "description": "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.", "id": "MONDO:0004585", "name": "Polyhydramnios", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyhydramnios", "polyhydramnios (disease)"], "xref": ["DOID:8488", "HP:0001561", "ICD10CM:O40", "ICD10WHO:O40", "ICD9:657", "ICD9:657.0", "ICD9:657.00", "MEDGEN:6936", "MESH:D006831", "SCTID:86203003", "UMLS:C0020224"]}
{"category": ["biolink:Disease"], "description": "A group of lung problems related to rheumatoid arthritis.", "id": "MONDO:0004586", "name": "Rheumatoid arthritis-associated interstitial lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["RA-ILD", "rheumatoid lung disease"], "xref": ["DOID:849", "ICD9:714.81", "MEDGEN:681135", "SCTID:398726004", "UMLS:C0994344"]}
{"category": ["biolink:Disease"], "description": "Inability to see clearly in dim light.", "id": "MONDO:0004588", "name": "Night blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nyctalopia"], "xref": ["DOID:8499", "ICD10CM:H53.6", "ICD9:368.6", "ICD9:368.60", "ICD9:368.69", "MEDGEN:10349", "MESH:D009755", "NCIT:C34850", "SCTID:65194006", "UMLS:C0028077", "icd11.foundation:205882698"]}
{"category": ["biolink:Disease"], "description": "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.", "id": "MONDO:0004591", "name": "Impetigo herpetiformis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8503", "ICD9:694.3", "MEDGEN:727290", "NANDO:1200243", "SCTID:65539006", "UMLS:C1314968"]}
{"category": ["biolink:Disease"], "description": "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.", "id": "MONDO:0004592", "name": "Impetigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8504", "ICD10CM:L01", "ICD10CM:L01.0", "ICD10WHO:L01", "ICD9:684", "MEDGEN:9440", "MESH:D007169", "NCIT:C99088", "SCTID:48277006", "UMLS:C0021099", "icd11.foundation:971176543"]}
{"category": ["biolink:Disease"], "description": "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.", "id": "MONDO:0004593", "name": "Bartholin duct cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cyst of Bartholin's gland"], "xref": ["DOID:851", "ICD10CM:N75.0", "ICD9:616.2", "MEDGEN:14032", "SCTID:57044006", "UMLS:C0004767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004594", "name": "Puerperal pulmonary embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8512", "ICD9:673", "ICD9:673.80", "ICD9:673.81", "MEDGEN:510381", "SCTID:200284000", "UMLS:C0157540"]}
{"category": ["biolink:Disease"], "description": "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.", "id": "MONDO:0004596", "name": "Cor pulmonale", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cor pulmonale", "pulmonary heart disease"], "xref": ["DOID:8515", "ICD10CM:I27.81", "MEDGEN:18765", "MESH:D011660", "SCTID:274096000", "UMLS:C0034072", "icd11.foundation:738218522"]}
{"category": ["biolink:Disease"], "description": "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.", "id": "MONDO:0004597", "name": "Pulmonary embolism and infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infarction, pulmonary"], "xref": ["DOID:8516", "ICD9:415.1", "ICD9:415.19", "MEDGEN:19577", "MESH:D054060", "NCIT:C50714", "SCTID:64662007", "UMLS:C0034074"]}
{"category": ["biolink:Disease"], "description": "A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.", "id": "MONDO:0004598", "name": "Acute cor pulmonale", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute pulmonary heart disease", "cor pulmonale, acute"], "xref": ["DOID:8514", "DOID:8517", "ICD9:415", "ICD9:415.0", "MEDGEN:510041", "SCTID:49584005", "SCTID:67189007", "UMLS:C0155671"]}
{"category": ["biolink:Disease"], "description": "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.", "id": "MONDO:0004599", "name": "Barbiturate abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8519", "ICD9:305.43", "MEDGEN:572718", "SCTID:231462006", "UMLS:C0338700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004600", "name": "Monocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:8527", "GARD:0024074", "ICD10CM:C93", "ICD9:206.8", "ICD9:206.80", "ICD9:206.81", "ICD9:206.90", "ICD9:206.91", "MEDGEN:109338", "SCTID:188744006", "UMLS:C0598894"]}
{"category": ["biolink:Disease"], "description": "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.", "id": "MONDO:0004601", "name": "Ulcer of lower limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8529", "ICD9:707.13", "MEDGEN:9701", "SCTID:419193008", "UMLS:C0023223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004603", "name": "Collagenopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)", "id": "MONDO:0004604", "name": "Hodgkin's lymphoma, lymphocytic-histiocytic predominance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Hodgkin lymphoma, lymphocyte-rich", "Hodgkin's disease, lymphocyte predominance [obs]", "LRCHL", "classic Hodgkin lymphoma, lymphocyte-rich type", "lymphocyte rich Hodgkin lymphoma", "lymphocyte rich Hodgkin's disease", "lymphocyte rich Hodgkin's lymphoma", "lymphocyte rich classical Hodgkin lymphoma", "lymphocyte rich classical Hodgkin's disease", "lymphocyte rich classical Hodgkin's lymphoma", "lymphocyte-rich Classic Hodgkin lymphoma", "lymphocyte-rich classical Hodgkin lymphoma", "lymphocyte-rich classical Hodgkin's lymphoma"], "xref": ["DOID:8543", "GARD:0019593", "ICD9:201.4", "ICDO:9651/3", "MEDGEN:224769", "MedDRA:10020231", "NCIT:C6913", "ONCOTREE:LRCHL", "Orphanet:98845", "SCTID:118607005", "UMLS:C1266194", "icd11.foundation:352299041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004605", "name": "Chronic ulcer of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["callous ulcer (morphologic abnormality)", "indolent ulcer (morphologic abnormality)"], "xref": ["DOID:8549", "ICD9:707", "ICD9:707.8", "ICD9:707.9", "MEDGEN:510410", "SCTID:19429009", "UMLS:C0157738"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a epiglottic vallecula.", "id": "MONDO:0004607", "name": "Vallecula cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of epiglottic vallecula", "epiglottic vallecula cancer", "malignant epiglottic vallecula neoplasm", "malignant neoplasm of epiglottic vallecula", "malignant tumour of vallecula"], "xref": ["DOID:8556", "GARD:0027688", "ICD10CM:C10.0", "ICD9:146.3", "MEDGEN:509271", "SCTID:363395000", "UMLS:C0153386"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the oropharynx.", "id": "MONDO:0004608", "name": "Oropharynx cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of oropharynx", "malignant neoplasm of junctional region of oropharynx", "malignant neoplasm of lateral wall of oropharynx", "malignant neoplasm of oropharynx", "malignant neoplasm of posterior wall of oropharynx", "malignant neoplasm of the oropharynx", "malignant oropharyngeal neoplasm", "malignant oropharyngeal tumor", "malignant oropharyngeal tumour", "malignant oropharynx neoplasm", "malignant tumor of mesopharynx", "malignant tumor of oropharynx", "malignant tumor of posterior wall of oropharynx", "malignant tumor of the oropharynx", "malignant tumour of mesopharynx", "malignant tumour of oropharynx", "malignant tumour of posterior wall of oropharynx", "malignant tumour of the oropharynx", "oropharyngeal cancer", "oropharynx cancer", "primary malignant neoplasm of lateral wall of oropharynx"], "xref": ["DOID:8557", "EFO:1001931", "GARD:0009358", "ICD10CM:C10", "ICD9:146", "ICD9:146.5", "ICD9:146.6", "ICD9:146.7", "ICD9:146.9", "MEDGEN:57783", "MESH:D009959", "NCIT:C7398", "UMLS:C0153382", "icd11.foundation:1172876400"]}
{"category": ["biolink:Disease"], "description": "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)", "id": "MONDO:0004609", "name": "Herpes simplex infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Simplexvirus caused disease or disorder", "Simplexvirus disease or disorder", "Simplexvirus infectious disease"], "xref": ["DOID:8566", "EFO:1002022", "ICD10CM:B00", "ICD9:054", "ICD9:058.89", "MEDGEN:9234", "MESH:D006561", "SCTID:88594005", "UMLS:C0019348"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the soft palate.", "id": "MONDO:0004611", "name": "Soft palate cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of soft palate", "malignant neoplasm of soft palate", "malignant neoplasm of the soft palate", "malignant soft palate neoplasm", "malignant soft palate tumor", "malignant soft palate tumour", "malignant tumor of soft palate", "malignant tumor of the soft palate", "malignant tumour of soft palate", "malignant tumour of the soft palate", "soft palate cancer"], "xref": ["DOID:8578", "GARD:0027689", "ICD10CM:C05.1", "ICD9:145.3", "MEDGEN:57552", "NCIT:C3529", "SCTID:363388009", "UMLS:C0153376"]}
{"category": ["biolink:Disease"], "description": "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.", "id": "MONDO:0004612", "name": "Malignant histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stewart's granuloma", "histiocytic medullary reticulosis", "malignant histiocytic disease", "malignant midline reticulosis", "malignant reticulosis"], "xref": ["DOID:2570", "DOID:8580", "ICD9:202.3", "ICDO:9750/3", "MEDGEN:5569", "MESH:D015620", "NCIT:C7202", "SCTID:118612006", "UMLS:C0019623"]}
{"category": ["biolink:Disease"], "description": "Ischemia of the intestine that is rapid in onset.", "id": "MONDO:0004613", "name": "Acute intestinal ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute intestinal ischemia"], "xref": ["DOID:8590", "ICD9:557.0", "MEDGEN:116", "NCIT:C34356", "SCTID:91489000", "UMLS:C0001363"]}
{"category": ["biolink:Disease"], "description": "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.", "id": "MONDO:0004614", "name": "Chronic monocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["monocytic leukemia, chronic"], "xref": ["DOID:8593", "GARD:0024075", "ICD9:206.1", "ICD9:206.10", "ICD9:206.11", "MEDGEN:9729", "NCIT:C34774", "SCTID:188745007", "UMLS:C0023466"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a gingiva of upper jaw.", "id": "MONDO:0004615", "name": "Upper gum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of gingiva of upper jaw", "gingiva of upper jaw cancer", "malignant gingiva of upper jaw neoplasm", "malignant neoplasm of gingiva of upper jaw", "malignant tumor of upper gingiva", "malignant tumor of upper gum", "malignant tumour of upper gingiva"], "xref": ["DOID:8601", "GARD:0024076", "ICD9:143.0", "MEDGEN:509265", "SCTID:363383000", "UMLS:C0153365"]}
{"category": ["biolink:Disease"], "description": "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.", "id": "MONDO:0004616", "name": "Herpetic whitlow", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Simplexvirus caused paronychia (disease)", "Simplexvirus paronychia (disease)"], "xref": ["DOID:8607", "ICD9:054.6", "MEDGEN:509122", "NCIT:C128402", "SCTID:43891009", "UMLS:C0153042"]}
{"category": ["biolink:Disease"], "description": "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)", "id": "MONDO:0004617", "name": "Recurrent hypersomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8619", "ICD10CM:G47.13", "ICD9:327.13", "MEDGEN:155520", "SCTID:426451004", "UMLS:C0751226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004618", "name": "Diplegia of upper limb", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diplegia of upper limbs"], "xref": ["DOID:862", "ICD10CM:G83.0", "ICD9:344.2", "MEDGEN:509631", "SCTID:54099005", "UMLS:C0154701"]}
{"category": ["biolink:Disease"], "description": "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).", "id": "MONDO:0004619", "name": "Measles", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Measles morbillivirus caused disease or disorder", "Measles morbillivirus disease or disorder", "Measles morbillivirus infectious disease", "morbilli", "rubeola infection"], "xref": ["DOID:8622", "EFO:1002025", "GARD:0027345", "ICD10CM:B05", "ICD10WHO:B05", "ICD9:055", "MEDGEN:6252", "MESH:D008457", "NCIT:C96406", "SCTID:14189004", "UMLS:C0025007", "icd11.foundation:1826431497"]}
{"category": ["biolink:Disease"], "description": "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)", "id": "MONDO:0004620", "name": "Hodgkin's lymphoma, lymphocytic depletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Adult lymphocyte-depleted Classic Hodgkin lymphoma", "Hodgkin lymphoma, lymphocyte depletion", "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)", "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites", "adult HDLD", "adult LDHD", "adult lymphocyte depleted Hodgkin lymphoma", "adult lymphocyte depleted Hodgkin's lymphoma", "adult lymphocyte depleted classical Hodgkin lymphoma", "adult lymphocyte depletion Hodgkin's disease", "adult lymphocyte-depleted classical Hodgkin lymphoma", "classic Hodgkin lymphoma, lymphocyte-depleted type", "lymphocyte-depleted classical Hodgkin lymphoma"], "xref": ["DOID:8628", "GARD:0019594", "ICD9:201.7", "MEDGEN:57760", "NCIT:C9125", "ONCOTREE:LDCHL", "Orphanet:98846", "SCTID:118610003", "UMLS:C0152267", "icd11.foundation:1729182645"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the upper lip.", "id": "MONDO:0004621", "name": "Upper lip cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of upper lip", "malignant neoplasm of upper lip", "malignant upper lip neoplasm", "upper lip cancer"], "xref": ["DOID:8630", "GARD:0027690", "ICD9:140.0", "ICD9:140.3"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004622", "name": "Chronic intestinal vascular insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic mesenteric ischemia"], "xref": ["DOID:8633", "ICD9:557.1", "MEDGEN:90228", "SCTID:111354009", "UMLS:C0311262"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the palatine uvula.", "id": "MONDO:0004624", "name": "Uvula cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of palatine uvula", "malignant neoplasm of palatine uvula", "malignant palatine uvula neoplasm", "malignant tumour of uvula", "malignant uvula neoplasm", "malignant uvula tumor", "malignant uvula tumour", "malignant uvular neoplasm", "malignant uvular tumor", "malignant uvular tumour", "palatine uvula cancer"], "xref": ["DOID:8635", "GARD:0027691", "ICD9:145.4", "MEDGEN:102265", "NCIT:C35177", "SCTID:363389001", "UMLS:C0153377"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a vein.", "id": "MONDO:0004625", "name": "Phlebitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of vein", "vein inflammation"], "xref": ["DOID:864", "EFO:1001395", "MEDGEN:18425", "MESH:D010689", "NCIT:C38003", "SCTID:61599003", "UMLS:C0031542"]}
{"category": ["biolink:Disease"], "description": "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.", "id": "MONDO:0004627", "name": "Duodenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duodenitis", "duodenum inflammation", "inflammation of duodenum"], "xref": ["DOID:8643", "ICD10CM:K29.8", "ICD9:535.6", "ICD9:535.60", "MEDGEN:4419", "MESH:D004382", "NCIT:C94409", "SCTID:72007001", "UMLS:C0013298", "icd11.foundation:1595026136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004628", "name": "Gastroduodenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8644", "ICD9:535.4", "ICD9:535.50", "MEDGEN:540445", "SCTID:196731005", "UMLS:C0267166"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004629", "name": "Subacute delirium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8645", "ICD9:293.1", "MEDGEN:56340", "SCTID:191507002", "UMLS:C0154333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004630", "name": "Substance-induced psychosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8646", "ICD9:293.89", "MEDGEN:18746", "UMLS:C0033941"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.", "id": "MONDO:0004631", "name": "Tongue cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of tongue", "malignant neoplasm of tongue", "malignant tongue neoplasm", "malignant tongue tumor", "malignant tongue tumour", "malignant tumor of the tongue", "malignant tumor of tongue", "malignant tumour of the tongue", "malignant tumour of tongue", "tongue cancer", "tongue neoplasm malignant", "tongue neoplasm, malignant"], "xref": ["DOID:8649", "GARD:0027692", "ICD9:141", "ICD9:141.0", "ICD9:141.1", "ICD9:141.2", "ICD9:141.3", "ICD9:141.4", "ICD9:141.5", "ICD9:141.6", "ICD9:141.9", "MEDGEN:102262", "MESH:D014062", "NCIT:C9345", "SCTID:363360003", "UMLS:C0153349"]}
{"category": ["biolink:Disease"], "description": "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)", "id": "MONDO:0004633", "name": "Hodgkin's lymphoma, mixed cellularity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hodgkin lymphoma, mixed cellularity", "Hodgkin's disease mixed cellularity", "Hodgkin's disease, mixed cellularity of unspecified site", "Hodgkin's lymphoma mixed cellularity", "MCCHL", "MCHL", "Mixed cellularity Classic Hodgkin lymphoma", "classic Hodgkin lymphoma, mixed cellularity type", "mixed cellularity Hodgkin lymphoma", "mixed cellularity Hodgkin's disease", "mixed cellularity Hodgkin's lymphoma", "mixed cellularity classical Hodgkin lymphoma"], "xref": ["DOID:8654", "EFO:1002031", "GARD:0019592", "ICD10CM:C81.2", "ICD9:201.6", "ICDO:9652/3", "MEDGEN:57521", "NCIT:C3517", "ONCOTREE:MCCHL", "Orphanet:98844", "SCTID:118609008", "UMLS:C0152266", "icd11.foundation:39515681"]}
{"category": ["biolink:Disease"], "description": "A disease involving the vein.", "id": "MONDO:0004634", "name": "Vein disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vein", "disease or disorder of vein", "disorder of vein", "vein disease", "vein disease or disorder"], "xref": ["DOID:866", "ICD9:453", "MEDGEN:115992", "NCIT:C35279", "SCTID:90507008", "UMLS:C0235522"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the postcricoid region.", "id": "MONDO:0004635", "name": "Postcricoid region cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant neoplasm of postcricoid area", "malignant neoplasm of the postcricoid area", "malignant postcricoid neoplasm", "malignant postcricoid tumor", "malignant postcricoid tumour", "malignant tumor of postcricoid area", "malignant tumor of the postcricoid area", "malignant tumour of pharyngoesophageal junction", "malignant tumour of postcricoid area", "malignant tumour of the postcricoid area"], "xref": ["DOID:8660", "GARD:0027693", "ICD9:148.0", "MEDGEN:141673", "NCIT:C9323", "SCTID:363400004", "UMLS:C0496769"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the lip.", "id": "MONDO:0004636", "name": "Lip carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of lip", "carcinoma in situ of the Lip", "lip in situ carcinoma", "stage 0 Lip cancer", "stage 0 Lip cancer aJCC v6", "stage 0 Lip cancer aJCC v6 and v7", "stage 0 Lip cancer aJCC v7", "stage 0 cancer of Lip", "stage 0 cancer of the Lip", "stage 0 carcinoma of Lip", "stage 0 carcinoma of the Lip", "stage 0 lip carcinoma"], "xref": ["DOID:8661", "GARD:0027694", "ICD9:230.0", "MEDGEN:83849", "NCIT:C4588", "SCTID:92643000", "UMLS:C0347082", "icd11.foundation:1426750734"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the aryepiglottic fold.", "id": "MONDO:0004637", "name": "Aryepiglottic fold cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aryepiglottic fold cancer", "cancer of aryepiglottic fold", "malignant aryepiglottic fold neoplasm", "malignant neoplasm of aryepiglottic fold", "malignant tumour aryepiglottic fold - hypopharyngeal aspect"], "xref": ["DOID:8663", "GARD:0027695", "ICD10CM:C13.1", "ICD9:148.2", "MEDGEN:509278", "SCTID:187708004", "UMLS:C0153401"]}
{"category": ["biolink:Disease"], "description": "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.", "id": "MONDO:0004638", "name": "Lymphosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["diffuse lymphoma", "lymphosarcoma"], "xref": ["DOID:8675", "GARD:0006946", "ICD9:200.0", "ICD9:200.1", "ICD9:200.10", "ICD9:200.7", "MEDGEN:811370", "NCIT:C26919", "SCTID:188498009", "UMLS:C3714542"]}
{"category": ["biolink:Disease"], "description": "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.", "id": "MONDO:0004639", "name": "Perinatal necrotizing enterocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["necrotizing enterocolitis in foetus or newborn"], "xref": ["DOID:8677", "GARD:0024078", "MEDGEN:906305", "SCTID:397729009", "UMLS:C4082937"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the stomach resulting from alcohol ingestion.", "id": "MONDO:0004640", "name": "Alcoholic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcoholic gastritis", "alcoholic gastritis, with haemorrhage", "alcoholic gastritis, without mention of haemorrhage"], "xref": ["DOID:8680", "ICD10CM:K29.2", "ICD9:535.3", "ICD9:535.30", "MEDGEN:102345", "NCIT:C26977", "SCTID:2043009", "UMLS:C0156076", "icd11.foundation:1081291109"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the zone of skin.", "id": "MONDO:0004641", "name": "Skin carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma in situ of skin", "carcinoma in situ of the skin", "carcinoma in situ of zone of skin", "carcinoma of skin stage 0", "carcinoma of the skin stage 0", "cutaneous carcinoma in situ", "nonmelanoma carcinoma in situ", "skin cancer stage 0", "skin carcinoma in situ", "skin carcinoma stage 0", "stage 0 nonmelanoma skin carcinoma in situ", "stage 0 skin cancer", "stage 0 skin cancer aJCC v6", "stage 0 skin cancer aJCC v7", "stage 0 skin carcinoma", "stage 0 zone of skin carcinoma", "zone of skin carcinoma in situ", "zone of skin in situ carcinoma"], "xref": ["DOID:8687", "ICD10CM:D04", "ICD9:232", "ICD9:232.0", "ICD9:232.2", "ICD9:232.3", "ICD9:232.4", "ICD9:232.5", "ICD9:232.6", "ICD9:232.7", "ICD9:232.8", "ICD9:232.9", "MEDGEN:102308", "NCIT:C3640", "SCTID:92749008", "UMLS:C0154073"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the tonsillar pillar.", "id": "MONDO:0004642", "name": "Tonsillar pillar cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant neoplasm of tonsillar pillar", "malignant neoplasm of tonsillar pillars, posterior", "malignant tumor of tonsillar pillar"], "xref": ["DOID:8688", "GARD:0027696", "ICD10CM:C09.1", "ICD9:146.2", "MEDGEN:509270", "SCTID:187675005", "UMLS:C0153385"]}
{"category": ["biolink:Disease"], "description": "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.", "id": "MONDO:0004643", "name": "Myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["leukaemia granulocytic", "leukaemia myeloid", "leukemia granulocytic", "leukemia myelogenous", "leukemia myeloid", "leukemia, granulocytic, malignant", "myelocytic leukaemia", "myelocytic leukemia", "myelogenous leukaemia", "myelogenous leukemia", "myeloid leukemia", "non-lymphoblastic leukaemia", "non-lymphoblastic leukemia", "non-lymphocytic leukaemia", "non-lymphocytic leukemia"], "xref": ["DOID:8692", "GARD:0008226", "ICD10CM:C92", "ICD9:205", "ICD9:205.80", "ICD9:205.9", "ICD9:205.90", "ICDO:9860/3", "MEDGEN:7320", "MESH:D007951", "NCIT:C3172", "SCTID:188732008", "UMLS:C0023470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004644", "name": "Subacute monocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8696", "GARD:0024079", "ICD9:206.2", "ICD9:206.20", "MEDGEN:508955", "SCTID:188746008", "UMLS:C0152275"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the buccal mucosa.", "id": "MONDO:0004645", "name": "Cheek mucosa cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["buccal mucosa cancer", "cancer of buccal mucosa", "malignant buccal mucosa neoplasm", "malignant buccal mucosa tumor", "malignant buccal mucosa tumour", "malignant neoplasm of buccal mucosa", "malignant neoplasm of the buccal mucosa", "malignant tumor of buccal mucosa", "malignant tumor of the buccal mucosa", "malignant tumour of buccal mucosa", "malignant tumour of the buccal mucosa"], "xref": ["DOID:8702", "ICD9:145.0", "MEDGEN:57550", "NCIT:C9320", "SCTID:363386008", "UMLS:C0153373"]}
{"category": ["biolink:Disease"], "description": "Death of tissue due to external pressure.", "id": "MONDO:0004646", "name": "Decubitus ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["decubitus ulcer", "decubitus ulcer, elbow", "decubitus ulcer, lower back", "decubitus ulcer, other site", "decubitus ulcer, upper back", "pressure sores", "pressure ulcer"], "xref": ["DOID:8717", "ICD10CM:L89", "ICD9:707.0", "ICD9:707.00", "MEDGEN:1789997", "MESH:D003668", "SCTID:399912005", "UMLS:C4554531"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.", "id": "MONDO:0004647", "name": "In situ carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma in situ", "carcinoma, in situ, malignant", "epithelial tumor, in situ, malignant", "intraepithelial carcinoma", "non-invasive carcinoma", "stage 0 disease"], "xref": ["DOID:8719", "ICD9:230-234", "ICD9:234.8", "ICD9:234.9", "ICDO:8010/2", "MEDGEN:763", "MESH:D002278", "NCIT:C2917", "SCTID:109355002", "UMLS:C0007099"]}
{"category": ["biolink:Disease"], "description": "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.", "id": "MONDO:0004648", "name": "Vascular dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vascular dementia"], "xref": ["DOID:8725", "EFO:0004718", "ICD10CM:F01", "ICD10CM:F01.5", "ICD10WHO:F01", "ICD9:290.4", "MEDGEN:41447", "MESH:D015140", "NCIT:C34525", "SCTID:429998004", "UMLS:C0011269", "icd11.foundation:1365258270"]}
{"category": ["biolink:Disease"], "description": "A pneumonia caused by anaerobic bacteria.", "id": "MONDO:0004649", "name": "Anaerobic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pneumonia due to anaerobic bacteria"], "xref": ["DOID:873", "ICD9:482.81", "ICD9:482.89", "MEDGEN:731236", "SCTID:409664000", "UMLS:C1443976"]}
{"category": ["biolink:Disease"], "description": "A carotid body paraganglioma that metastasizes to other anatomic sites.", "id": "MONDO:0004650", "name": "Malignant carotid body paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["carotid body paraganglioma, malignant", "malignant carotid body paraganglioma", "malignant carotid body tumor (morphologic abnormality)", "malignant carotid body tumour (morphologic abnormality)"], "xref": ["DOID:8731", "GARD:0024080", "ICD10CM:C75.4", "ICD9:194.5", "MEDGEN:56318", "NCIT:C3574", "SCTID:447883002", "UMLS:C0153656"]}
{"category": ["biolink:Disease"], "description": "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.", "id": "MONDO:0004651", "name": "Smallpox", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Variola virus caused disease or disorder", "Variola virus disease or disorder", "Variola virus infectious disease", "ordinary smallpox"], "xref": ["DOID:8736", "ICD10CM:B03", "ICD10WHO:B03", "ICD9:050", "ICD9:050.9", "MEDGEN:20785", "MESH:D012899", "NCIT:C35027", "SCTID:67924001", "UMLS:C0037354", "icd11.foundation:2054716425"]}
{"category": ["biolink:Disease"], "description": "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.", "id": "MONDO:0004652", "name": "Bacterial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bacteria caused pneumonia", "Bacteria pneumonia", "pneumonia due to other gram-negative bacteria"], "xref": ["DOID:874", "EFO:1001272", "ICD9:482.89", "ICD9:482.9", "MEDGEN:484", "MESH:D018410", "NCIT:C26704", "SCTID:53084003", "UMLS:C0004626", "icd11.foundation:1323682030"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)", "id": "MONDO:0004653", "name": "Atypical chronic myeloid leukemia, bcr-abl1 negative", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aCML", "atypical CML", "atypical chronic myeloid leukaemia", "atypical chronic myeloid leukemia", "atypical chronic myeloid leukemia, BCR-ABL1 Negative", "subacute granulocytic leukaemia", "subacute granulocytic leukemia", "subacute myelogenous leukaemia", "subacute myelogenous leukemia", "subacute myeloid leukaemia", "subacute myeloid leukemia"], "xref": ["DOID:0060597", "DOID:8747", "GARD:0019583", "ICDO:9876/3", "MEDGEN:266233", "MedDRA:10054651", "NCIT:C3519", "Orphanet:98824", "SCTID:277589003", "UMLS:C1292772", "icd11.foundation:331838766"]}
{"category": ["biolink:Disease"], "description": "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.", "id": "MONDO:0004656", "name": "Rubella", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rubella infection", "Rubella virus caused disease or disorder", "Rubella virus disease or disorder", "Rubella virus infectious disease", "german measles", "three-Day Measles"], "xref": ["DOID:8781", "EFO:1002026", "GARD:0004742", "ICD10CM:B06", "ICD9:056", "MEDGEN:48514", "MESH:D012409", "NCIT:C85051", "SCTID:36653000", "UMLS:C0035920", "icd11.foundation:410022648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004657", "name": "Disseminated chorioretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8787", "GARD:0024081", "ICD10CM:H30.1", "ICD9:363.1", "ICD9:363.10", "MEDGEN:509696", "SCTID:78769001", "UMLS:C0154879"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the breast.", "id": "MONDO:0004658", "name": "Breast carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast cancer in situ", "breast cancer stage 0", "breast carcinoma in situ", "breast in situ carcinoma", "carcinoma in situ of breast", "carcinoma in situ of the breast", "in situ breast cancer", "non-infiltrating breast carcinoma", "non-infiltrating carcinoma of breast", "non-infiltrating carcinoma of the breast", "non-invasive breast carcinoma", "non-invasive carcinoma of breast", "non-invasive carcinoma of the breast", "stage 0 breast cancer", "stage 0 breast cancer aJCC v6", "stage 0 breast cancer aJCC v6 and v7", "stage 0 breast cancer aJCC v7", "stage 0 breast carcinoma", "stage 0 breast carcinoma in situ", "stage 0 carcinoma of breast", "stage 0 carcinoma of the breast"], "xref": ["DOID:8791", "ICD10CM:D05", "ICD9:233.0", "MEDGEN:57817", "MESH:D000071960", "NCIT:C3641", "SCTID:189336000", "UMLS:C0154084", "icd11.foundation:1264360394"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a eye.", "id": "MONDO:0004659", "name": "Eye carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of eye", "carcinoma in situ of eyeball of camera-type eye", "eye in situ carcinoma", "eyeball of camera-type eye carcinoma in situ", "stage 0 eye carcinoma", "stage 0 eyeball of camera-type eye carcinoma"], "xref": ["DOID:8792", "ICD10CM:D09.2", "ICD9:234.0", "MEDGEN:509519", "SCTID:92590009", "UMLS:C0154094"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a lung.", "id": "MONDO:0004660", "name": "Lung carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bronchial carcinoma in situ", "carcinoma in situ of lung", "lung in situ carcinoma", "stage 0 lung cancer", "stage 0 lung cancer aJCC v6", "stage 0 lung cancer aJCC v6 and v7", "stage 0 lung cancer aJCC v7", "stage 0 lung carcinoma"], "xref": ["DOID:8800", "ICD9:231.2", "MEDGEN:146894", "NCIT:C27467", "SCTID:92649001", "UMLS:C0685053"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.", "id": "MONDO:0004661", "name": "Trachea carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of the trachea", "carcinoma in situ of trachea", "severe epithelial dysplasia of trachea", "stage 0 trachea carcinoma", "trachea carcinoma in situ", "trachea in situ carcinoma", "tracheal carcinoma in situ"], "xref": ["DOID:8802", "ICD10CM:D02.1", "ICD9:231.1", "MEDGEN:57816", "NCIT:C3639", "SCTID:92772005", "UMLS:C0154070"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.", "id": "MONDO:0004662", "name": "Heterophyiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Heterophyes infection"], "xref": ["DOID:882", "ICD9:121.6", "MEDGEN:508869", "NCIT:C128389", "SCTID:22905009", "UMLS:C0152071", "icd11.foundation:322536023"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the colon.", "id": "MONDO:0004663", "name": "Colon carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma in situ of colon", "carcinoma in situ of the colon", "colon cancer stage 0", "colon carcinoma in situ", "colon in situ carcinoma", "colonic carcinoma in situ", "stage 0 carcinoma of colon", "stage 0 carcinoma of the colon", "stage 0 colon cancer", "stage 0 colon cancer aJCC v6", "stage 0 colon cancer aJCC v6 and v7", "stage 0 colon cancer aJCC v7", "stage 0 colon carcinoma", "stage 0 colonic carcinoma"], "xref": ["DOID:8826", "ICD10CM:D01.0", "ICD9:230.3", "MEDGEN:56334", "NCIT:C3638", "SCTID:92568009", "UMLS:C0154061", "icd11.foundation:1958429829"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection characterized by the infestation with worms, mainly in the intestine.", "id": "MONDO:0004664", "name": "Helminthiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["helminthiasis"], "xref": ["DOID:883", "EFO:1001342", "ICD10CM:B65-B83", "ICD9:120-129", "ICD9:128.8", "ICD9:128.9", "MEDGEN:6765", "MESH:D006373", "NCIT:C84751", "SCTID:27601005", "UMLS:C0018889"]}
{"category": ["biolink:Disease"], "description": "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)", "id": "MONDO:0004665", "name": "Nodular sclerosis classical hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hodgkin lymphoma, nodular sclerosis", "Hodgkin's disease nodular sclerosis", "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)", "Hodgkin's disease, nodular sclerosis of unspecified site", "Hodgkin's nodular sclerosis", "NSCHL", "NSHD", "NSHL", "nodular sclerosis Classic Hodgkin lymphoma", "nodular sclerosis Hodgkin lymphoma", "nodular sclerosis Hodgkin's disease", "nodular sclerosis Hodgkin's lymphoma", "nodular sclerosis classical Hodgkin lymphoma"], "xref": ["DOID:8838", "EFO:0004708", "GARD:0019591", "ICD10CM:C81.1", "ICD9:201.5", "ICDO:9663/3", "MEDGEN:101830", "NCIT:C3518", "ONCOTREE:NSCHL", "Orphanet:98843", "SCTID:118608000", "UMLS:C0152268", "icd11.foundation:1995941600"]}
{"category": ["biolink:Disease"], "description": "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.", "id": "MONDO:0004666", "name": "Metagonimiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Metagonimus yokogawai infection", "infection by Metagonimus yokogawai"], "xref": ["DOID:884", "ICD9:121.5", "MEDGEN:7564", "NCIT:C128390", "SCTID:37832003", "UMLS:C0025530", "icd11.foundation:844727447"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.", "id": "MONDO:0004667", "name": "Sublingual gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of sublingual gland", "malignant neoplasm of sublingual gland", "malignant neoplasm of the sublingual gland", "malignant sublingual gland neoplasm", "malignant sublingual gland tumor", "malignant sublingual gland tumour", "malignant tumor of sublingual gland", "malignant tumor of the sublingual gland", "malignant tumour of sublingual gland", "malignant tumour of the sublingual gland", "sublingual gland cancer"], "xref": ["DOID:8849", "GARD:0027697", "ICD10CM:C08.1", "ICD9:142.2", "MEDGEN:102263", "NCIT:C3527", "SCTID:363381003", "UMLS:C0153361"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.", "id": "MONDO:0004668", "name": "Fascioliasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Fasciolosis", "infection by fasciola", "sheep liver fluke infection"], "xref": ["DOID:885", "EFO:1001324", "ICD10CM:B66.3", "ICD9:121.3", "MEDGEN:41969", "MESH:D005211", "NCIT:C128387", "SCTID:82308007", "UMLS:C0015652", "icd11.foundation:656408831"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0004669", "name": "Salivary gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of saliva-secreting gland", "cancer of salivary gland", "cancer of the salivary gland", "malignant neoplasm of saliva-secreting gland", "malignant neoplasm of salivary gland", "malignant neoplasm of salivary gland duct", "malignant neoplasm of the salivary gland", "malignant saliva-secreting gland neoplasm", "malignant salivary gland neoplasm", "malignant salivary gland tumor", "malignant salivary gland tumour", "malignant tumor of salivary gland", "malignant tumor of the salivary gland", "malignant tumour of salivary gland", "malignant tumour of the salivary gland", "saliva-secreting gland cancer", "salivary gland cancer"], "xref": ["DOID:8850", "GARD:0027698", "ICD10CM:C08", "ICD9:142.8", "MEDGEN:65079", "MESH:D012468", "NCIT:C3811", "SCTID:255072001", "UMLS:C0220636"]}
{"category": ["biolink:Disease"], "description": "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.", "id": "MONDO:0004670", "name": "Lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lupus", "lupus erythematosus"], "xref": ["DOID:8857", "ICD10CM:L93", "ICD10WHO:L93", "ICD9:695.4", "MEDGEN:98043", "NCIT:C27153", "SCTID:200936003", "UMLS:C0409974", "icd11.foundation:1443317238"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the penis.", "id": "MONDO:0004671", "name": "Penis carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bowen disease of the penis", "Bowen's disease of penis", "Bowen's disease of the penis", "Queyrat erythroplasia", "Queyrat's erythroplasia", "carcinoma in situ of penis", "carcinoma in situ of the penis", "erythroplasia of Queyrat", "grade III penile intraepithelial neoplasia", "grade III squamous intraepithelial lesion of penis", "grade III squamous intraepithelial lesion of the penis", "penile carcinoma in situ", "penile carcinoma in situ aJCC v7", "penis in situ carcinoma", "stage 0 penile carcinoma in situ", "stage 0 penis carcinoma"], "xref": ["DOID:8872", "GARD:0024082", "ICD10CM:D07.4", "ICD9:233.5", "ICDO:8080/2", "MEDGEN:102309", "NCIT:C27790", "SCTID:398831006", "UMLS:C0154089"]}
{"category": ["biolink:Disease"], "description": "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.", "id": "MONDO:0004672", "name": "Fasciolopsiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:888", "GARD:0024083", "ICD10CM:B66.5", "ICD9:121.4", "MEDGEN:5125", "NCIT:C128388", "Orphanet:658909", "SCTID:54266002", "UMLS:C0015656", "icd11.foundation:830824191"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the lower lip.", "id": "MONDO:0004673", "name": "Lower lip cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of lower lip", "lower lip cancer", "malignant lower lip neoplasm", "malignant neoplasm of lower lip"], "xref": ["DOID:8883", "GARD:0027699", "ICD9:140.1", "MEDGEN:609573", "SCTID:363373004", "UMLS:C0432520"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.", "id": "MONDO:0004674", "name": "Chorioretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chorioretinitis", "chorioretinitis (disease)"], "xref": ["DOID:8886", "GARD:0006060", "HP:0012424", "ICD9:363.20", "MEDGEN:942", "MESH:D002825", "NCIT:C110923", "SCTID:46627006", "UMLS:C0008513"]}
{"category": ["biolink:Disease"], "description": "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)", "id": "MONDO:0004675", "name": "Mitochondrial encephalomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:890", "GARD:0024084", "ICD9:277.87", "MEDGEN:57960", "MESH:D017237", "SCTID:447292006", "UMLS:C0162666"]}
{"category": ["biolink:Disease"], "description": "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.", "id": "MONDO:0004677", "name": "Tinea nigra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8912", "ICD10CM:B36.1", "ICD9:111.1", "MEDGEN:508865", "SCTID:183342005", "UMLS:C0152067", "icd11.foundation:1723085409"]}
{"category": ["biolink:Disease"], "description": "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.", "id": "MONDO:0004678", "name": "Dermatophytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fungal skin disease", "fungal skin diseases", "skin disease, fungal", "skin diseases, fungal"], "xref": ["DOID:8913", "ICD10CM:B35", "ICD10WHO:B35", "ICD9:110", "ICD9:110.8", "ICD9:110.9", "MEDGEN:3768", "NCIT:C26745", "SCTID:47382004", "UMLS:C0011636", "icd11.foundation:1802307036"]}
{"category": ["biolink:Disease"], "description": "Leukoplakia of the vagina.", "id": "MONDO:0004679", "name": "Leukoplakia of vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leukoplakia of the vagina", "vaginal leukoplakia"], "xref": ["DOID:8920", "ICD10CM:N89.4", "ICD9:623.1", "MEDGEN:102351", "NCIT:C3663", "SCTID:111420009", "UMLS:C0156385", "icd11.foundation:644756612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004680", "name": "Primary thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:8925", "GARD:0024085", "ICD9:287.3", "ICD9:287.30", "ICD9:287.39", "MEDGEN:675208", "SCTID:267534000", "UMLS:C0701157"]}
{"category": ["biolink:Disease"], "description": "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.", "id": "MONDO:0004681", "name": "Learning disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["learning disorder"], "xref": ["DOID:8927", "ICD9:315.2", "MEDGEN:199623", "MESH:D007859", "NCIT:C89334", "SCTID:1855002", "UMLS:C0751265"]}
{"category": ["biolink:Disease"], "description": "A malignant form of neoplasm of retromolar area.", "id": "MONDO:0004682", "name": "Retromolar area cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant neoplasm of retromolar area", "malignant tumour of retromolar area", "neoplasm of retromolar area, malignant"], "xref": ["DOID:8930", "GARD:0024086", "ICD10CM:C06.2", "ICD9:145.6", "MEDGEN:509268", "SCTID:363391009", "UMLS:C0153379"]}
{"category": ["biolink:Disease"], "description": "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.", "id": "MONDO:0004684", "name": "Plantar fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ledderhose's disease", "Lederhose disease", "plantar fibromatosis", "plantar part of pes superficial Fibromatosis", "plantar part of pes superficial fibromatosis", "superficial fibromatosis of plantar part of pes"], "xref": ["DOID:8936", "EFO:1000481", "GARD:0006873", "ICD9:728.71", "MEDGEN:56385", "MESH:C537000", "MedDRA:10035154", "NCIT:C4680", "Orphanet:199251", "SCTID:13370002", "UMLS:C0158360", "icd11.foundation:409482033"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the tonsillar ring.", "id": "MONDO:0004685", "name": "Waldeyer's ring cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of tonsillar ring", "malignant neoplasm of Waldeyer's ring", "malignant neoplasm of tonsillar ring", "malignant tonsillar ring neoplasm", "malignant tumour of Waldeyer's ring", "tonsillar ring cancer"], "xref": ["DOID:8937", "GARD:0027700", "ICD10CM:C14.2", "ICD9:149.1", "MEDGEN:509279", "NCIT:C194063", "SCTID:187716008", "UMLS:C0153406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004686", "name": "Lattice corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lattice corneal dystrophy", "lattice corneal dystrophy (disease)"], "xref": ["DOID:8943", "GARD:0024087", "HP:0001149", "ICD10CM:H18.54", "ICD9:277.39", "ICD9:357.4", "MEDGEN:56355", "SCTID:1192004", "UMLS:C0155127", "icd11.foundation:1247885635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004687", "name": "Severe nonproliferative diabetic retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["severe nonproliferative diabetic retinopathy"], "xref": ["DOID:8946", "ICD9:362.06", "MEDGEN:676487", "SCTID:312905005", "UMLS:C0730278", "icd11.foundation:561966379"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.", "id": "MONDO:0004689", "name": "Inborn metal metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:896", "GARD:0024088", "MEDGEN:6325", "MESH:D008664", "UMLS:C0025534"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a tonsillar fossa.", "id": "MONDO:0004690", "name": "Tonsillar fossa cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of tonsillar fossa", "malignant neoplasm of tonsillar fossa", "malignant tonsillar fossa neoplasm", "malignant tumor of tonsillar fossa", "malignant tumour of tonsillar fossa", "tonsillar fossa cancer"], "xref": ["DOID:8969", "GARD:0027701", "ICD10CM:C09.0", "ICD9:146.1", "MEDGEN:509269", "SCTID:363394001", "UMLS:C0153384"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of polycystic kidney disease.", "id": "MONDO:0004691", "name": "Autosomal dominant polycystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADPKD", "autosomal dominant polycystic kidney disease", "polycystic kidney disease, autosomal dominant"], "xref": ["DOID:898", "EFO:1001496", "ICD9:753.12", "ICD9:753.13", "MEDGEN:88404", "MESH:D016891", "NANDO:1200368", "NANDO:2200153", "NCIT:C84578", "NORD:828", "Orphanet:730", "SCTID:765330003", "UMLS:C0085413", "icd11.foundation:91220434"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.", "id": "MONDO:0004693", "name": "Squamous carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma, squamous cell, in situ, malignant", "epidermoid carcinoma in situ", "epidermoid cell carcinoma in situ", "grade 3 SIN", "grade 3 squamous intraepithelial neoplasia", "grade III SIN", "grade III squamous intraepithelial neoplasia", "intraepithelial squamous cell carcinoma", "squamous carcinoma in situ", "squamous cell carcinoma in situ", "squamous cell carcinoma in-situ", "stage 0 squamous cell carcinoma"], "xref": ["ICDO:8070/2", "ICDO:8077/2", "MEDGEN:83116", "NCIT:C27093", "UMLS:C0334245"]}
{"category": ["biolink:Disease"], "description": "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.", "id": "MONDO:0004694", "name": "Hepatopulmonary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:900", "EFO:1001346", "ICD10CM:K76.81", "ICD9:417.8", "ICD9:573.5", "MEDGEN:109071", "MESH:D020065", "SCTID:371067004", "UMLS:C0600452", "icd11.foundation:866605228"]}
{"category": ["biolink:Disease"], "description": "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.", "id": "MONDO:0004695", "name": "Liver lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hepatic lymphoma", "liver lymphoma", "lymphoma of liver", "lymphoma of the liver", "primary hepatic lymphoma", "primary liver lymphoma"], "xref": ["DOID:901", "GARD:0024089", "MEDGEN:207276", "NCIT:C4949", "UMLS:C1112746"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the larynx.", "id": "MONDO:0004696", "name": "Larynx carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of larynx", "carcinoma in situ of the larynx", "laryngeal cancer stage 0", "laryngeal carcinoma in situ", "laryngeal carcinoma stage 0", "larynx carcinoma in situ", "larynx in situ carcinoma", "stage 0 carcinoma of larynx", "stage 0 carcinoma of the larynx", "stage 0 laryngeal cancer", "stage 0 laryngeal cancer aJCC v6", "stage 0 laryngeal cancer aJCC v6, v7, and V8", "stage 0 laryngeal cancer aJCC v7", "stage 0 laryngeal cancer aJCC v8", "stage 0 laryngeal carcinoma", "stage 0 laryngeal carcinoma in situ", "stage 0 laryngeal throat cancer", "stage 0 larynx carcinoma"], "xref": ["DOID:9011", "GARD:0027702", "ICD10CM:D02.0", "ICD9:231.0", "MEDGEN:56336", "NCIT:C9100", "SCTID:92634009", "UMLS:C0154069"]}
{"category": ["biolink:Disease"], "description": "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.", "id": "MONDO:0004697", "name": "Esophageal leukoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["esophageal epidermoid metaplasia", "esophageal leukoplakia", "esophageal leukoplakia (disease)", "esophagus leukoplakia", "leukoplakia of esophagus", "leukoplakia of oesophagus", "leukoplakia of the esophagus", "leukoplakia of the oesophagus", "oesophagus leukoplakia"], "xref": ["DOID:9021", "HP:0012859", "ICD9:530.83", "MEDGEN:75628", "NCIT:C3953", "SCTID:89057003", "UMLS:C0267095"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a intestine.", "id": "MONDO:0004698", "name": "Intestine carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of intestine", "intestine in situ carcinoma", "stage 0 intestine carcinoma"], "xref": ["DOID:9024", "ICD9:230.7", "MEDGEN:672856", "SCTID:92617001", "UMLS:C0685941"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.", "id": "MONDO:0004699", "name": "Gastrointestinal lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["digestive system lymphoma", "gastrointestinal lymphoma", "lymphoma of digestive system", "primary digestive system lymphoma", "primary gastrointestinal lymphoma"], "xref": ["DOID:903", "GARD:0024090", "ICD9:202.80", "MEDGEN:148147", "NCIT:C38162", "SCTID:449072004", "UMLS:C0740372"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.", "id": "MONDO:0004700", "name": "Parotid gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of parotid", "cancer of parotid gland", "cancer of the parotid", "cancer of the parotid gland", "malignant neoplasm of parotid", "malignant neoplasm of parotid gland", "malignant neoplasm of the parotid", "malignant neoplasm of the parotid gland", "malignant parotid gland neoplasm", "malignant parotid gland tumor", "malignant parotid gland tumour", "malignant parotid neoplasm", "malignant parotid tumor", "malignant parotid tumour", "malignant tumor of parotid", "malignant tumor of parotid gland", "malignant tumor of the parotid", "malignant tumor of the parotid gland", "malignant tumour of parotid", "malignant tumour of parotid gland", "malignant tumour of the parotid", "malignant tumour of the parotid gland", "parotid gland cancer"], "xref": ["DOID:9036", "GARD:0027703", "ICD10CM:C07", "ICD9:142.0", "MEDGEN:152885", "MESH:D010307", "NCIT:C3525", "SCTID:363379000", "UMLS:C0747273", "icd11.foundation:1640200163"]}
{"category": ["biolink:Disease"], "description": "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.", "id": "MONDO:0004701", "name": "Uterine polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyp of corpus uteri", "polyp of the uterus", "polyp of uterus", "uterine polyp", "uterus polyp"], "xref": ["DOID:9042", "EFO:0009484", "ICD10CM:N84.0", "ICD9:621.0", "MEDGEN:57628", "NCIT:C3662", "SCTID:11314008", "UMLS:C0156369"]}
{"category": ["biolink:Disease"], "description": "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.", "id": "MONDO:0004702", "name": "Uterine cervix leukoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical leukoplakia", "cervix leukoplakia", "cervix uteri leukoplakia", "leukoplakia of cervix", "leukoplakia of cervix (uteri)", "leukoplakia of cervix uteri", "leukoplakia of the cervix", "leukoplakia of the cervix uteri", "leukoplakia of the uterine cervix", "leukoplakia of uterine cervix"], "xref": ["DOID:9043", "ICD10CM:N88.0", "ICD9:622.2", "MEDGEN:124350", "NCIT:C3976", "SCTID:50923006", "UMLS:C0269194"]}
{"category": ["biolink:Disease"], "description": "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)", "id": "MONDO:0004703", "name": "Bladder carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bladder flat CIS", "bladder flat carcinoma in situ", "carcinoma in situ of bladder", "carcinoma in situ of the urinary bladder", "carcinoma in situ of urinary bladder", "flat CIS of the bladder", "flat CIS of the urinary bladder", "flat carcinoma in situ of the bladder", "flat carcinoma in situ of the urinary bladder", "high grade bladder Intraurothelial neoplasia", "stage 0 urinary bladder carcinoma", "stage 0is bladder cancer", "stage 0is bladder carcinoma", "stage 0is bladder urothelial cancer", "stage 0is bladder urothelial carcinoma", "stage 0is bladder urothelial carcinoma aJCC v6", "stage 0is bladder urothelial carcinoma aJCC v6 and v7", "stage 0is bladder urothelial carcinoma aJCC v7", "stage 0is carcinoma of bladder", "stage 0is carcinoma of the bladder", "stage 0is carcinoma of the urinary bladder", "stage 0is carcinoma of urinary bladder", "stage 0is urinary bladder carcinoma", "urinary bladder carcinoma in situ", "urinary bladder flat CIS", "urinary bladder flat carcinoma in situ", "urinary bladder in situ carcinoma"], "xref": ["DOID:9053", "GARD:0024091", "ICD10CM:D09.0", "ICD9:233.7", "MEDGEN:57584", "NCIT:C3644", "SCTID:92546004", "UMLS:C0154091"]}
{"category": ["biolink:Disease"], "description": "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.", "id": "MONDO:0004705", "name": "Liver solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fibroma of liver", "fibroma of the liver", "hepatic fibroma", "liver fibroma", "liver localised fibrous mesothelioma", "liver localised fibrous tumour", "liver localized fibrous mesothelioma", "liver localized fibrous tumor", "liver solitary fibrous tumor"], "xref": ["DOID:907", "GARD:0024092", "MEDGEN:232273", "NCIT:C5752", "UMLS:C1333965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004706", "name": "Discoid lupus erythematosus of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9076", "ICD10CM:H01.12", "ICD9:373.34", "MEDGEN:509835", "SCTID:79291003", "UMLS:C0155180", "icd11.foundation:743513349"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a anal canal.", "id": "MONDO:0004707", "name": "Anal canal carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anal canal in situ carcinoma", "carcinoma in situ of anal canal", "stage 0 anal canal cancer", "stage 0 anal canal cancer aJCC v6", "stage 0 anal canal cancer aJCC v6 and v7", "stage 0 anal canal cancer aJCC v7", "stage 0 anal canal carcinoma", "stage 0 anal canal carcinoma aJCC v6 and v7", "stage 0 anal carcinoma aJCC v6 and v7", "stage 0 anal carcinoma in situ"], "xref": ["DOID:9087", "GARD:0024093", "ICD9:230.5", "ICD9:230.6", "MEDGEN:412201", "NCIT:C7794", "SCTID:92531006", "UMLS:C2242854", "icd11.foundation:1447034"]}
{"category": ["biolink:Disease"], "description": "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)", "id": "MONDO:0004708", "name": "Esophagus carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of esophagus", "carcinoma in situ of oesophagus", "esophageal carcinoma in situ", "esophageal carcinoma in situ aJCC v7", "esophagus in situ carcinoma", "oesophagus in situ carcinoma", "severe esophageal dysplasia", "severe esophageal dysplasia aJCC v7", "stage 0 esophageal cancer", "stage 0 esophageal cancer aJCC v7", "stage 0 esophageal carcinoma in situ", "stage 0 esophagus carcinoma", "stage 0 oesophagus carcinoma"], "xref": ["DOID:9095", "GARD:0024094", "ICD10CM:D00.1", "ICD9:230.1", "MEDGEN:56332", "NCIT:C89771", "SCTID:92585006", "UMLS:C0154059", "icd11.foundation:218644880"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a occipital lobe.", "id": "MONDO:0004709", "name": "Occipital lobe neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant neoplasm of occipital lobe", "neoplasm of occipital lobe", "neoplasm of the occipital lobe", "occipital lobe neoplasm", "occipital lobe neoplasm (disease)", "occipital lobe tumor", "occipital lobe tumour", "tumor of occipital lobe", "tumor of the occipital lobe", "tumour of occipital lobe", "tumour of the occipital lobe"], "xref": ["DOID:910", "ICD10CM:C71.4", "ICD9:191.4", "MEDGEN:220389", "NCIT:C5574", "SCTID:126957005", "UMLS:C1263889"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a uterus.", "id": "MONDO:0004710", "name": "Uterus carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma in situ of uterus", "stage 0 uterus carcinoma", "uterus in situ carcinoma"], "xref": ["DOID:9108", "ICD9:233.2", "MEDGEN:673127", "SCTID:92788005", "UMLS:C0686237"]}
{"category": ["biolink:Disease"], "description": "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.", "id": "MONDO:0004712", "name": "Herpes simplex dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Herpes simplex dermatitis", "Simplexvirus caused dermatitis", "Simplexvirus dermatitis", "eczema herpeticum (disorder) [ambiguous]", "herpes simplex dermatitis"], "xref": ["DOID:9123", "ICD10CM:B00.0", "ICD9:054.0", "ICD9:054.41", "MEDGEN:163132", "MESH:D007617", "NCIT:C35620", "SCTID:186535001", "UMLS:C0854331"]}
{"category": ["biolink:Disease"], "description": "A cancer involving a gingiva of lower jaw.", "id": "MONDO:0004713", "name": "Lower gum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of gingiva of lower jaw", "gingiva of lower jaw cancer", "malignant gingiva of lower jaw neoplasm", "malignant neoplasm of gingiva of lower jaw", "malignant tumor of lower gum", "malignant tumour of lower gingiva"], "xref": ["DOID:9125", "GARD:0024095", "ICD9:143.1", "MEDGEN:609602", "SCTID:363384006", "UMLS:C0432581"]}
{"category": ["biolink:Disease"], "description": "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.", "id": "MONDO:0004714", "name": "Atrophic muscular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["atrophic muscular disorder"], "xref": ["DOID:913", "GARD:0024096", "MEDGEN:156267", "NCIT:C84574", "UMLS:C0752352"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a liver.", "id": "MONDO:0004715", "name": "Liver carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of liver", "carcinoma in situ of liver, gallbladder and bile ducts", "liver in situ carcinoma", "stage 0 liver carcinoma"], "xref": ["DOID:9132", "GARD:0024097", "ICD10CM:D01.5", "ICD9:230.8", "MEDGEN:577201", "SCTID:92644006", "UMLS:C0345908", "icd11.foundation:1380265780"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the stomach.", "id": "MONDO:0004716", "name": "Stomach carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of stomach", "carcinoma in situ of the stomach", "carcinoma of stomach stage 0", "carcinoma of the stomach stage 0", "gastric carcinoma in situ", "gastric carcinoma stage 0", "gastric carcinoma, stage 0", "stage 0 carcinoma of stomach", "stage 0 carcinoma of the stomach", "stage 0 gastric (stomach) cancer", "stage 0 gastric cancer", "stage 0 gastric cancer aJCC v6", "stage 0 gastric cancer aJCC v6 and v7", "stage 0 gastric cancer aJCC v7", "stage 0 gastric carcinoma", "stage 0 gastric carcinoma in situ", "stage 0 stomach cancer", "stage 0 stomach carcinoma", "stomach carcinoma in situ", "stomach carcinoma stage 0", "stomach in situ carcinoma"], "xref": ["DOID:9138", "GARD:0027704", "ICD10CM:D00.2", "ICD9:230.2", "MEDGEN:56333", "NCIT:C7788", "SCTID:92756002", "UMLS:C0154060", "icd11.foundation:2040861039"]}
{"category": ["biolink:Disease"], "description": "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.", "id": "MONDO:0004717", "name": "Peliosis hepatis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hepatic peliosis"], "xref": ["DOID:914", "EFO:1001387", "ICD10CM:K76.4", "MEDGEN:10618", "MESH:D010382", "SCTID:58008004", "UMLS:C0030781", "icd11.foundation:1210061614"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004718", "name": "Xeroderma of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9140", "ICD10CM:H01.14", "ICD9:373.33", "MEDGEN:509834", "SCTID:55846006", "UMLS:C0155179", "icd11.foundation:144401595"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the hard palate.", "id": "MONDO:0004719", "name": "Hard palate cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of hard palate", "hard palate", "hard palate cancer", "malignant hard palate neoplasm", "malignant hard palate tumor", "malignant hard palate tumour", "malignant neoplasm of hard palate", "malignant neoplasm of the hard palate", "malignant tumor of hard palate", "malignant tumor of the hard palate", "malignant tumour of the hard palate"], "xref": ["DOID:9149", "ICD10CM:C05.0", "ICD9:145.2", "MEDGEN:57551", "NCIT:C3528", "SCTID:363387004", "UMLS:C0153375"]}
{"category": ["biolink:Disease"], "description": "A orthopoxvirus that causes a milder clinical syndrome than smallpox.", "id": "MONDO:0004720", "name": "Variola minor infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alastrim"], "xref": ["DOID:9153", "ICD9:050.1", "MEDGEN:1393", "NCIT:C34365", "SCTID:72294005", "UMLS:C0001906"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0004723", "name": "Liver leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hepatic leiomyoma", "leiomyoma of liver", "leiomyoma of the liver", "liver leiomyoma"], "xref": ["DOID:917", "MEDGEN:232276", "NCIT:C5753", "UMLS:C1333968"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the submandibular gland.", "id": "MONDO:0004724", "name": "Submandibular gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of submandibular gland", "malignant neoplasm of submandibular gland", "malignant neoplasm of submaxillary gland", "malignant submandibular gland neoplasm", "malignant tumor of submandibular gland", "malignant tumor of the submandibular gland", "malignant tumour of submandibular gland", "malignant tumour of the submandibular gland", "submandibular gland cancer"], "xref": ["DOID:9173", "GARD:0027705", "ICD10CM:C08.0", "ICD9:142.1", "MEDGEN:57782", "NCIT:C3526", "NCIT:C8396", "SCTID:363380002", "UMLS:C0153360"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the rectum.", "id": "MONDO:0004725", "name": "Rectum carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma in situ of rectum", "carcinoma in situ of the rectum", "marked dysplasia of rectum", "marked dysplasia of the rectum", "marked rectal dysplasia", "rectal carcinoma in situ", "rectum in situ carcinoma", "severe dysplasia of rectum", "severe dysplasia of the rectum", "severe rectal dysplasia", "stage 0 carcinoma of rectum", "stage 0 carcinoma of the rectum", "stage 0 rectal cancer", "stage 0 rectal cancer aJCC v6", "stage 0 rectal cancer aJCC v6 and v7", "stage 0 rectal cancer aJCC v7", "stage 0 rectal carcinoma", "stage 0 rectum carcinoma"], "xref": ["DOID:9174", "ICD10CM:D01.2", "ICD9:230.4", "MEDGEN:56335", "NCIT:C4853", "SCTID:308879003", "UMLS:C0154062", "icd11.foundation:1700649456"]}
{"category": ["biolink:Disease"], "description": "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.", "id": "MONDO:0004726", "name": "Liver inflammatory myofibroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hepatic inflammatory myofibroblastic tumor", "hepatic inflammatory myofibroblastic tumour", "liver inflammatory myofibroblastic tumor"], "xref": ["DOID:918", "GARD:0024098", "MEDGEN:232275", "NCIT:C5858", "SCTID:717329009", "UMLS:C1333967"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the oral opening.", "id": "MONDO:0004727", "name": "Vestibule of mouth cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of oral opening", "malignant neoplasm of oral opening", "malignant neoplasm of vestibule of mouth", "malignant oral opening neoplasm", "malignant tumor of vestibule of mouth", "malignant tumour of vestibule of mouth", "oral opening cancer"], "xref": ["DOID:9188", "ICD10CM:C06.1", "ICD9:145.1", "MEDGEN:509267", "SCTID:187658004", "UMLS:C0153374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004728", "name": "Diabetic macular edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9191", "EFO:0009321", "ICD9:362.07", "MEDGEN:676494", "SCTID:312912001", "UMLS:C0730285"]}
{"category": ["biolink:Disease"], "description": "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).", "id": "MONDO:0004729", "name": "Dyskinesia of esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dyskinesia of esophagus", "esophageal motility disorder", "oesophageal dysmotility", "oesophageal motor disorder"], "xref": ["DOID:9192", "ICD10CM:K22.4", "ICD9:530.5", "MEDGEN:41868", "MESH:D015154", "SCTID:266434009", "UMLS:C0014858", "icd11.foundation:581725607"]}
{"category": ["biolink:Disease"], "description": "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.", "id": "MONDO:0004730", "name": "Speech disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["speech impediment or impairment"], "xref": ["DOID:92", "ICD9:784.40", "ICD9:784.49", "MEDGEN:11531", "MESH:D013064", "NCIT:C5041", "SCTID:47004009", "UMLS:C0037822"]}
{"category": ["biolink:Disease"], "description": "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.", "id": "MONDO:0004731", "name": "Central sleep apnea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central sleep apnea syndrome"], "xref": ["DOID:9220", "MEDGEN:854402", "MESH:D020182", "NCIT:C27169", "SCTID:27405005", "UMLS:C3887547"]}
{"category": ["biolink:Disease"], "description": "A carcinoma in situ involving a kidney.", "id": "MONDO:0004732", "name": "Kidney carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of kidney", "kidney in situ carcinoma", "stage 0 kidney carcinoma"], "xref": ["DOID:9234", "ICD9:233.9", "MEDGEN:673070", "SCTID:92624000", "UMLS:C0686172"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the pyriform sinus.", "id": "MONDO:0004733", "name": "Pyriform sinus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant neoplasm of pyriform fossa", "malignant neoplasm of pyriform sinus", "malignant neoplasm of the pyriform fossa", "malignant neoplasm of the pyriform sinus", "malignant pyriform fossa neoplasm", "malignant pyriform fossa tumor", "malignant pyriform fossa tumour", "malignant pyriform sinus neoplasm", "malignant pyriform sinus tumor", "malignant pyriform sinus tumour", "malignant tumor of pyriform fossa", "malignant tumor of pyriform sinus", "malignant tumor of the pyriform fossa", "malignant tumor of the pyriform sinus", "malignant tumour of pyriform fossa", "malignant tumour of pyriform sinus", "malignant tumour of the pyriform fossa", "malignant tumour of the pyriform sinus"], "xref": ["DOID:9235", "GARD:0027706", "ICD10CM:C12", "ICD9:148.1", "MEDGEN:102267", "NCIT:C3531", "SCTID:363401000", "UMLS:C0153400"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.", "id": "MONDO:0004736", "name": "Inborn disorder of amino acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inborn cellular amino acid metabolic process disorder", "inborn error of amino acid metabolism", "inborn error of cellular amino acid metabolic process", "inherited amino acid metabolic disorder", "rare inborn error of cellular amino acid metabolic process"], "xref": ["DOID:9252", "GARD:0006770", "ICD9:270", "ICD9:270.9", "MEDGEN:1857273", "MESH:D000592", "NCIT:C97090", "SCTID:42930003", "UMLS:C5886841"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.", "id": "MONDO:0004737", "name": "Homocystinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["homocystinuria", "homocystinuria (disease)"], "xref": ["DOID:9263", "GARD:0010770", "HP:0002156", "ICD10CM:E72.11", "MEDGEN:42485", "MESH:D006712", "NANDO:1201038", "NANDO:2200474", "NCIT:C84765", "SCTID:11282001", "UMLS:C0019880"]}
{"category": ["biolink:Disease"], "description": "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.", "id": "MONDO:0004739", "name": "Urea cycle disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["disorder of urea cycle metabolism", "inborn disorder of urea cycle metabolism and ammonia detoxification", "inborn urea cycle disorder", "urea cycle disorders", "urea cycle metabolism disorder"], "xref": ["DOID:9267", "GARD:0007837", "ICD9:270.6", "MEDGEN:57586", "MESH:D056806", "NANDO:1200802", "NCIT:C84785", "Orphanet:79167", "SCTID:36444000", "UMLS:C0154246"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.", "id": "MONDO:0004741", "name": "Tyrosinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:9275", "GARD:0024099", "ICD10CM:E70.21", "ICD9:270.2", "MEDGEN:541332", "MESH:D020176", "NCIT:C98640", "OMIMPS:276700", "SCTID:190694001", "UMLS:C0268486"]}
{"category": ["biolink:Disease"], "description": "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.", "id": "MONDO:0004743", "name": "Hyperhomocysteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["homocysteinemia", "hyperhomocysteinemia"], "xref": ["DOID:9279", "GARD:0008230", "MEDGEN:108623", "MESH:D020138", "NCIT:C84770", "OMIM:603174", "SCTID:419503008", "UMLS:C0598608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004744", "name": "Borderline glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9283", "ICD9:365.00", "MEDGEN:735885", "SCTID:193531003", "UMLS:C1533674"]}
{"category": ["biolink:Disease"], "description": "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.", "id": "MONDO:0004745", "name": "Priapism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["mentulagra"], "xref": ["DOID:9286", "GARD:0019933", "ICD10CM:N48.3", "ICD9:607.3", "MEDGEN:19462", "MESH:D011317", "Orphanet:140949", "SCTID:6273006", "UMLS:C0033117", "icd11.foundation:1983776037"]}
{"category": ["biolink:Disease"], "description": "A myopathy that involves the extra-ocular muscle.", "id": "MONDO:0004746", "name": "Myopathy of extraocular muscle", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extra-ocular muscle myopathy", "myopathy of extra-ocular muscle", "myopathy of extraocular muscles"], "xref": ["DOID:929", "GARD:0024100", "ICD10CM:H05.82", "ICD9:376.82", "MEDGEN:509895", "SCTID:57130002", "UMLS:C0155286"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.", "id": "MONDO:0004747", "name": "Cleft lip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cheiloschisis", "cleft lip", "cleft lip (disease)", "cleft lip, unilateral, complete", "labium leporinum"], "xref": ["DOID:9296", "HP:0410030", "ICD10CM:Q36", "ICD10WHO:Q36", "ICD9:749.1", "ICD9:749.10", "ICD9:749.11", "MEDGEN:1370297", "MESH:D002971", "NCIT:C87175", "SCTID:80281008", "UMLS:C4321245"]}
{"category": ["biolink:Disease"], "description": "A disease involving the lip.", "id": "MONDO:0004748", "name": "Lip disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lip", "disease of lips", "disease or disorder of lip", "disorder of lip", "lip disease", "lip disease or disorder", "lip disorder"], "xref": ["DOID:9297", "ICD9:528.5", "MEDGEN:44166", "MESH:D008047", "NCIT:C26818", "SCTID:90678009", "UMLS:C0023760"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the myocardium.", "id": "MONDO:0004749", "name": "Myocardium cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of myocardium", "malignant myocardial neoplasm", "malignant myocardial tumor", "malignant myocardial tumour", "malignant myocardium neoplasm", "malignant neoplasm of myocardium", "malignant neoplasm of the myocardium", "malignant tumor of myocardium", "malignant tumor of the myocardium", "malignant tumour of myocardium", "malignant tumour of the myocardium", "myocardium cancer"], "xref": ["DOID:9299", "GARD:0027707", "MEDGEN:138067", "NCIT:C4569", "UMLS:C0346611"]}
{"category": ["biolink:Disease"], "description": "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.", "id": "MONDO:0004750", "name": "Language disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:93", "HP:0002463", "MEDGEN:44069", "MESH:D007806", "NCIT:C97155", "UMLS:C0023015"]}
{"category": ["biolink:Disease"], "description": "Diseases of the bony orbit and contents except the eyeball.", "id": "MONDO:0004751", "name": "Disease of orbital part of eye adnexa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:930", "ICD9:376", "ICD9:376.9", "MEDGEN:45214", "MESH:D009916", "UMLS:C0029182"]}
{"category": ["biolink:Disease"], "description": "A rare neurofibroma that affects the heart.", "id": "MONDO:0004752", "name": "Neurofibroma of the heart", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cardiac neurofibroma", "heart neurofibroma", "neurofibroma of heart", "neurofibroma of the heart"], "xref": ["DOID:9300", "GARD:0024101", "MEDGEN:242755", "NCIT:C5359", "UMLS:C1096349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004753", "name": "Mechanical strabismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9306", "ICD10CM:H50.6", "ICD9:378.6", "ICD9:378.60", "MEDGEN:101828", "SCTID:5371001", "UMLS:C0152223", "icd11.foundation:230827382"]}
{"category": ["biolink:Disease"], "description": "Protrusion of the rectum through the anus.", "id": "MONDO:0004754", "name": "Rectal prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rectal prolapse", "rectal prolapse (disease)"], "xref": ["DOID:9307", "HP:0002035", "ICD10CM:K62.3", "ICD9:569.1", "MEDGEN:11151", "MESH:D012005", "NCIT:C34973", "UMLS:C0034888", "icd11.foundation:231914102"]}
{"category": ["biolink:Disease"], "description": "Infection of ruminants with tapeworms of the genus Moniezia.", "id": "MONDO:0004755", "name": "Monieziasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:931", "MEDGEN:6424", "MESH:D008989", "UMLS:C0026414"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0004756", "name": "Nasal cavity neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nasal cavity neoplasm", "nasal cavity neoplasm (disease)", "nasal cavity tumor", "nasal cavity tumour", "neoplasm of nasal cavity", "neoplasm of the nasal cavity", "tumor of nasal cavity", "tumor of the nasal cavity", "tumour of nasal cavity", "tumour of the nasal cavity"], "xref": ["DOID:9310", "MEDGEN:138023", "NCIT:C4413", "SCTID:126670003", "UMLS:C0345630"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.", "id": "MONDO:0004757", "name": "Chronic ethmoidal sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic ethmoidal sinusitis", "ethmoid sinusitis, chronic"], "xref": ["DOID:9312", "ICD10CM:J32.2", "ICD9:473.2", "MEDGEN:3454", "NCIT:C34472", "SCTID:73237007", "UMLS:C0008681", "icd11.foundation:1076459084"]}
{"category": ["biolink:Disease"], "description": "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.", "id": "MONDO:0004758", "name": "Scotoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["enlarged blind spot", "generalised visual field contraction or constriction", "scotoma", "scotoma (disease)", "scotoma of blind spot area"], "xref": ["DOID:9335", "HP:0000575", "ICD10CM:H53.42", "ICD9:368.42", "ICD9:368.43", "ICD9:368.44", "ICD9:368.45", "MEDGEN:19902", "MESH:D012607", "UMLS:C0036454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004759", "name": "Zoophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["zoophilia"], "xref": ["DOID:9336", "ICD9:302.1", "MEDGEN:508916", "SCTID:81463002", "UMLS:C0152186"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004760", "name": "Urethral false passage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9339", "ICD10CM:N36.5", "ICD9:599.4", "MEDGEN:510227", "SCTID:74944002", "UMLS:C0156286"]}
{"category": ["biolink:Disease"], "description": "A uterine disorder characterised by chronic pelvic pain caused by reflux or obstruction of the ovarian or pelvic veins, often associated with pelvic or vulvar varicosities.", "id": "MONDO:0004762", "name": "Pelvic congestion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PCS", "Taylor syndrome", "Taylor's syndrome", "congestion-fibrosis syndrome", "female varicocele", "pelvic congestion syndrome", "pelvic vein incompetence"], "xref": ["DOID:9346", "ICD9:625.5", "MEDGEN:508874", "SCTID:39402007", "UMLS:C0152078"]}
{"category": ["biolink:Disease"], "description": "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.", "id": "MONDO:0004763", "name": "Carotid artery dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dissection of carotid artery"], "xref": ["DOID:9348", "ICD10CM:I77.71", "ICD9:443.21", "MEDGEN:488844", "NCIT:C125662", "SCTID:720626009", "UMLS:C0338585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004764", "name": "Fibular collateral ligament bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9358", "ICD9:726.63", "MEDGEN:510512", "SCTID:77323000", "UMLS:C0158316"]}
{"category": ["biolink:Disease"], "description": "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.", "id": "MONDO:0004765", "name": "Intrinsic asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-allergic asthma"], "xref": ["DOID:9360", "ICD9:493.1", "MEDGEN:510123", "SCTID:266361008", "UMLS:C0155880"]}
{"category": ["biolink:Disease"], "description": "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.", "id": "MONDO:0004766", "name": "Status asthmaticus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9362", "EFO:0008590", "ICD10WHO:J46", "ICD9:493.91", "MEDGEN:11584", "MESH:D013224", "NCIT:C122577", "SCTID:708090002", "UMLS:C0038218"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.", "id": "MONDO:0004767", "name": "Vesiculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gland, seminal vesicle", "inflammation of seminal vesicle", "seminal Sacs", "seminal vesicle", "seminal vesicle inflammation", "seminal vesicles", "seminal vesiculitis"], "xref": ["DOID:9365", "ICD9:608.0", "MEDGEN:508285", "NCIT:C12787", "SCTID:27001009", "UMLS:C0042588"]}
{"category": ["biolink:Disease"], "description": "Inflammation of both the cornea and the conjunctiva.", "id": "MONDO:0004768", "name": "Keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9368", "HP:0001096", "ICD10CM:H16.2", "ICD9:370.40", "ICD9:370.49", "ICD9:370.8", "MEDGEN:44014", "MESH:D007637", "NCIT:C34744", "SCTID:88151007", "UMLS:C0022573"]}
{"category": ["biolink:Disease"], "description": "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).", "id": "MONDO:0004769", "name": "Orbital pseudotumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granuloma, plasma cell, orbital", "inflammatory pseudotumor of orbit", "inflammatory pseudotumor of orbit proper", "inflammatory pseudotumor, orbital", "inflammatory pseudotumors, orbital", "orbital granuloma, plasma cell", "orbital inflammatory pseudotumor", "orbital inflammatory pseudotumors", "orbital pseudotumors", "plasma cell granuloma, orbital", "pseudotumor, inflammatory, orbital", "pseudotumor, orbital", "pseudotumor, orbital inflammatory", "pseudotumors, orbital"], "xref": ["DOID:9369", "MEDGEN:43140", "MESH:D016727", "SCTID:72789009", "UMLS:C0085270"]}
{"category": ["biolink:Disease"], "description": "The anterior displacement of the eye within the orbit, giving a bulging appearance.", "id": "MONDO:0004770", "name": "Exophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["exophthalmos", "exophthalmos (disease)", "proptosis"], "xref": ["DOID:9370", "HP:0000520", "ICD9:376.30", "MEDGEN:41917", "MESH:D005094", "NCIT:C118763", "SCTID:18265008", "UMLS:C0015300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004772", "name": "Glaucomatocyclitic crisis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Posner-Schlossman syndrome", "glaucomatocyclitic crisis disease"], "xref": ["DOID:9378", "GARD:0010737", "ICD9:364.22", "MEDGEN:508902", "Orphanet:636950", "SCTID:29538005", "UMLS:C0152138"]}
{"category": ["biolink:Disease"], "description": "An inflammation of the iris and the ciliary body", "id": "MONDO:0004773", "name": "Iridocyclitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iridocyclitis", "iridocyclitis (disease)"], "xref": ["DOID:9383", "GARD:0024102", "HP:0001094", "ICD10CM:H20", "ICD10WHO:H20", "ICD9:364.01", "ICD9:364.2", "ICD9:364.3", "MEDGEN:43961", "MESH:D015863", "NCIT:C34736", "SCTID:77971008", "UMLS:C0022073"]}
{"category": ["biolink:Disease"], "description": "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0004774", "name": "Gonococcal iridocyclitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Neisseria gonorrhoeae caused iridocyclitis (disease)", "Neisseria gonorrhoeae iridocyclitis (disease)"], "xref": ["DOID:9384", "GARD:0024103", "ICD10CM:A54.32", "ICD9:098.41", "MEDGEN:509207", "SCTID:9091006", "UMLS:C0153212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004775", "name": "Lens-induced iridocyclitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lens-induced iridocyclitis"], "xref": ["DOID:9388", "GARD:0024104", "ICD10CM:H20.2", "ICD9:364.23", "MEDGEN:573082", "SCTID:70461003", "UMLS:C0339320"]}
{"category": ["biolink:Disease"], "description": "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.", "id": "MONDO:0004777", "name": "Acute laryngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["laryngitis, acute"], "xref": ["DOID:9396", "ICD10CM:J04.0", "ICD9:464.0", "ICD9:464.00", "ICD9:464.01", "MEDGEN:1317", "NCIT:C26688", "SCTID:6655004", "UMLS:C0001327", "icd11.foundation:1180710837"]}
{"category": ["biolink:Disease"], "description": "A disorder involving inflammation of the epididymis and testes.", "id": "MONDO:0004778", "name": "Epididymo-orchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9401", "ICD10CM:N45.3", "ICD9:604", "ICD9:604.90", "MEDGEN:508448", "SCTID:197983000", "UMLS:C0149881", "icd11.foundation:1745517194"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.", "id": "MONDO:0004779", "name": "Epididymitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epididymal", "epididymis", "epididymitis", "epididymitis (disease)"], "xref": ["DOID:9402", "HP:0000031", "ICD10CM:N45.1", "MEDGEN:4986", "MESH:D004823", "NCIT:C12328", "SCTID:31070006", "UMLS:C0014534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004780", "name": "Strictly posterior acute myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9407", "ICD9:410.60", "MEDGEN:538775", "UMLS:C0264706"]}
{"category": ["biolink:Disease"], "description": "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.", "id": "MONDO:0004781", "name": "Acute myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute myocardial infarction (disease)", "myocardial infarction (disease), acute"], "xref": ["DOID:9408", "EFO:0008583", "ICD10CM:I21.9", "ICD10WHO:I21", "ICD9:410", "ICD9:410.80", "ICD9:410.81", "ICD9:410.82", "ICD9:410.9", "ICD9:410.90", "ICD9:410.91", "ICD9:410.92", "MEDGEN:57611", "NCIT:C35204", "SCTID:57054005", "UMLS:C0155626", "icd11.foundation:1334938734"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.", "id": "MONDO:0004782", "name": "Diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9409", "ICD10CM:E23.2", "ICD9:253.5", "MEDGEN:8349", "MESH:D003919", "NANDO:2100117", "NCIT:C43263", "SCTID:15771004", "UMLS:C0011848"]}
{"category": ["biolink:Disease"], "description": "A asthma with a basis in a pathological type I hypersensitivity reaction.", "id": "MONDO:0004784", "name": "Allergic asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic form of asthma"], "xref": ["DOID:9415", "ICD9:493.0", "MEDGEN:102343", "SCTID:389145006", "UMLS:C0155877", "icd11.foundation:1870104478"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the eyelids near the eyelashes.", "id": "MONDO:0004785", "name": "Blepharitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eyelid inflammation", "inflammation of eyelid"], "xref": ["DOID:9423", "EFO:0009536", "ICD10CM:H01.0", "ICD9:373.0", "ICD9:373.00", "ICD9:373.4", "ICD9:373.8", "ICD9:373.9", "MEDGEN:598", "MESH:D001762", "NCIT:C112183", "SCTID:41446000", "UMLS:C0005741"]}
{"category": ["biolink:Disease"], "description": "Cholangitis that is persistent and long-standing.", "id": "MONDO:0004786", "name": "Chronic cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholangitis, chronic"], "xref": ["DOID:9439", "MEDGEN:82765", "NCIT:C35335", "SCTID:71912000", "UMLS:C0267918"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.", "id": "MONDO:0004787", "name": "Cervical mullerian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical Mullerian papilloma", "cervical Müllerian papilloma"], "xref": ["DOID:9442", "MEDGEN:273910", "NCIT:C40215", "UMLS:C1516427"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the squamous epithelium of the cervix.", "id": "MONDO:0004788", "name": "Cervix squamous papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical squamous papilloma", "cervix squamous papilloma", "cervix uteri squamous papilloma", "squamous papilloma of cervix", "squamous papilloma of cervix uteri", "squamous papilloma of the cervix", "squamous papilloma of the cervix uteri", "squamous papilloma of the uterine cervix", "squamous papilloma of uterine cervix", "uterine cervix squamous papilloma"], "xref": ["DOID:9445", "MEDGEN:237038", "NCIT:C6342", "UMLS:C1336900"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the biliary tract.", "id": "MONDO:0004789", "name": "Cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["biliary tract infection", "biliary tree inflammation", "cholangitis", "inflammation of biliary tree"], "xref": ["DOID:9446", "ICD10CM:K83.0", "ICD9:576.1", "MEDGEN:40258", "MESH:D002761", "NCIT:C26718", "SCTID:82403002", "UMLS:C0008311", "icd11.foundation:1712178777"]}
{"category": ["biolink:Disease"], "description": "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.", "id": "MONDO:0004790", "name": "Fatty liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fatty liver"], "xref": ["DOID:9452", "ICD9:571.8", "MEDGEN:398225", "MESH:D005234", "SCTID:197321007", "SCTID:371330000", "UMLS:C2711227"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the UBERON:0016632.", "id": "MONDO:0004792", "name": "Cancer of isthmus of fallopian tube", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of isthmus of fallopian tube", "isthmus of fallopian tube cancer", "malignant isthmus of fallopian tube neoplasm", "malignant neoplasm of isthmus of fallopian tube"], "xref": ["DOID:9459", "GARD:0024105", "ICD9:182.1", "MEDGEN:1843459", "UMLS:C0153575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004794", "name": "Exposure keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["exposure keratoconjunctivitis"], "xref": ["DOID:9461", "ICD10CM:H16.21", "ICD9:370.34", "MEDGEN:87383", "SCTID:14366000", "UMLS:C0339295", "icd11.foundation:1261495652"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.", "id": "MONDO:0004795", "name": "Otitis externa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["external Ear infection", "infectious otitis externa", "otitis externa", "outer Ear infection", "swimmer's Ear", "swimmer's ear"], "xref": ["DOID:9463", "EFO:0009560", "ICD10CM:H60", "ICD10CM:H60.33", "ICD10WHO:H60", "ICD9:380.1", "ICD9:380.10", "MEDGEN:10505", "MESH:D010032", "NCIT:C3299", "NCIT:C79601", "SCTID:3135009", "UMLS:C0029878", "icd11.foundation:1303990434"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.", "id": "MONDO:0004796", "name": "Infectious meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["infectious meningitis", "infective meningitis"], "xref": ["DOID:9471", "EFO:0000584", "GARD:0024106", "HP:0001287", "ICD9:321.8", "ICD9:322", "MEDGEN:152668", "NCIT:C79598", "SCTID:312216007", "UMLS:C0729584"]}
{"category": ["biolink:Disease"], "description": "A mononeuritis simplex that involves the hindlimb.", "id": "MONDO:0004797", "name": "Mononeuritis of lower limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hindlimb mononeuritis simplex", "mononeuritis simplex of hindlimb"], "xref": ["DOID:9473", "GARD:0024107", "ICD9:355", "ICD9:355.8", "MEDGEN:509642", "UMLS:C0154747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004799", "name": "Ulcerative blepharitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9483", "ICD10CM:H01.01", "ICD9:373.01", "MEDGEN:509828", "SCTID:91662004", "UMLS:C0155173"]}
{"category": ["biolink:Disease"], "description": "Chronic form of dacryoadenitis.", "id": "MONDO:0004800", "name": "Chronic dacryoadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dacryoadenitis, chronic"], "xref": ["DOID:949", "ICD10CM:H04.02", "ICD9:375.02", "MEDGEN:509857", "SCTID:4760008", "UMLS:C0155224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004801", "name": "Unilateral hypoactive labyrinth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9496", "ICD9:386.53", "MEDGEN:510003", "UMLS:C0155517"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.", "id": "MONDO:0004802", "name": "Pulmonary eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:9498", "GARD:0024108", "ICD9:518.3", "MEDGEN:46208", "MESH:D011657", "SCTID:367542003", "UMLS:C0034068", "icd11.foundation:544479555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004803", "name": "Disseminated eosinophilic collagen disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9499", "GARD:0024109", "ICD9:710.8", "MEDGEN:538043", "SCTID:423486005", "UMLS:C0263662"]}
{"category": ["biolink:Disease"], "description": "Inflammation and enlargement of the lacrimal gland.", "id": "MONDO:0004804", "name": "Dacryoadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of lacrimal gland", "lacrimal gland inflammation"], "xref": ["DOID:950", "ICD10CM:H04.0", "ICD9:375.0", "ICD9:375.00", "MEDGEN:102328", "NCIT:C26971", "SCTID:86927009", "UMLS:C0155223"]}
{"category": ["biolink:Disease"], "description": "A disease involving leukocytes.", "id": "MONDO:0004805", "name": "Leukocyte disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of leukocyte", "disease or disorder of leukocyte", "disorder of leukocyte", "disorder, leukocyte", "disorders, leukocyte", "leukocyte disease", "leukocyte disease or disorder", "leukocyte disorder", "white blood cell disorder"], "xref": ["DOID:9500", "ICD9:288", "ICD9:288.9", "MEDGEN:7325", "MESH:D007960", "SCTID:54097007", "UMLS:C0023510"]}
{"category": ["biolink:Disease"], "description": "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.", "id": "MONDO:0004806", "name": "Chronic eosinophilic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eosinophilic pneumonia, chronic"], "xref": ["DOID:9502", "GARD:0027346", "ICD10CM:J82.81", "MEDGEN:3085", "NCIT:C34471", "SCTID:233692000", "UMLS:C0008680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004808", "name": "Benign mammary dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign mammary dysplasia"], "xref": ["DOID:9504", "ICD10CM:N60", "ICD10WHO:N60", "ICD9:610.8", "ICD9:610.9", "MEDGEN:726820", "SCTID:57993004", "UMLS:C1305934"]}
{"category": ["biolink:Disease"], "description": "Acute form of ethmoid sinusitis.", "id": "MONDO:0004810", "name": "Acute ethmoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute ethmoidal sinusitis", "ethmoid sinusitis, acute"], "xref": ["DOID:9506", "ICD10CM:J01.2", "ICD9:461.2", "MEDGEN:510088", "SCTID:67832005", "UMLS:C0155806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004811", "name": "Simple chronic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9512", "ICD10CM:H10.42", "ICD9:372.11", "MEDGEN:509807", "SCTID:8211008", "UMLS:C0155146"]}
{"category": ["biolink:Disease"], "description": "Acute form of dacryoadenitis.", "id": "MONDO:0004812", "name": "Acute dacryoadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dacryoadenitis, acute"], "xref": ["DOID:952", "ICD10CM:H04.01", "ICD9:375.01", "MEDGEN:508387", "SCTID:2589008", "UMLS:C0149505"]}
{"category": ["biolink:Disease"], "description": "A pneumothorax caused by tuberculosis infection, typically resulting from rupture of a cavitary tuberculous lesion into the pleural space.", "id": "MONDO:0004813", "name": "Tuberculous pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9534", "GARD:0027708", "ICD9:011.7", "ICD9:011.70", "ICD9:011.71", "ICD9:011.72", "ICD9:011.73", "ICD9:011.76", "MEDGEN:509067", "SCTID:29731002", "UMLS:C0152600"]}
{"category": ["biolink:Disease"], "description": "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.", "id": "MONDO:0004815", "name": "Osteosclerotic plasma cell myeloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["osteosclerotic multiple myeloma", "osteosclerotic plasma cell myeloma"], "xref": ["DOID:9541", "GARD:0024111", "MEDGEN:857662", "NCIT:C7765", "SCTID:425657001", "UMLS:C3898068"]}
{"category": ["biolink:Disease"], "description": "A plasma cell neoplasm that is resistant to treatment.", "id": "MONDO:0004816", "name": "Refractory plasma cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["refractory plasma cell neoplasm"], "xref": ["DOID:9544", "GARD:0024112", "MEDGEN:75844", "NCIT:C7813", "UMLS:C0278620"]}
{"category": ["biolink:Disease"], "description": "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.", "id": "MONDO:0004817", "name": "Non-secretory plasma cell myeloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-secretory multiple myeloma", "non-secretory plasma cell myeloma"], "xref": ["DOID:9547", "GARD:0024113", "MEDGEN:857719", "NCIT:C4734", "SCTID:277580004", "UMLS:C3898125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004819", "name": "Indolent plasma cell myeloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["indolent multiple myeloma", "indolent myeloma"], "xref": ["DOID:9550", "GARD:0024114", "NCIT:C7150", "SCTID:441313008"]}
{"category": ["biolink:Disease"], "description": "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.", "id": "MONDO:0004820", "name": "Peripheral nerve schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["peripheral nerve schwannoma"], "xref": ["DOID:956", "GARD:0024115", "MEDGEN:274155", "NCIT:C41430", "UMLS:C1519001"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.", "id": "MONDO:0004821", "name": "Nasopharyngeal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of nasopharynx", "disease or disorder of nasopharynx", "disorder of nasopharynx", "nasopharyngeal disorder", "nasopharynx disease", "nasopharynx disease or disorder"], "xref": ["DOID:9561", "MEDGEN:45007", "MESH:D009302", "NCIT:C35723", "SCTID:123952009", "UMLS:C0027438"]}
{"category": ["biolink:Disease"], "description": "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.", "id": "MONDO:0004822", "name": "Bronchiectasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9563", "ICD10CM:J47", "ICD10WHO:J47", "ICD9:494", "MEDGEN:14234", "MESH:D001987", "NANDO:2100036", "NANDO:2200206", "NCIT:C84475", "OMIMPS:211400", "SCTID:12295008", "UMLS:C0006267", "icd11.foundation:1935524933"]}
{"category": ["biolink:Disease"], "description": "A fungal infection by any of the Candida species in a newborn infant up to 28 days old.", "id": "MONDO:0004824", "name": "Neonatal candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neonatal Candida infection"], "xref": ["DOID:9577", "ICD10CM:P37.5", "ICD9:771.7", "MEDGEN:547484", "NCIT:C116810", "SCTID:414821002", "UMLS:C0276682"]}
{"category": ["biolink:Disease"], "description": "A concretion in the urethra.", "id": "MONDO:0004826", "name": "Urethral calculus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urethra urolithiasis", "urolithiasis of urethra"], "xref": ["DOID:9589", "ICD9:594.2", "MEDGEN:57664", "SCTID:20342001", "UMLS:C0162301"]}
{"category": ["biolink:Disease"], "description": "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.", "id": "MONDO:0004827", "name": "Esophagus squamous cell papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["esophageal squamous papilloma", "esophagus squamous cell papilloma", "esophagus squamous papilloma", "oesophagus squamous papilloma", "squamous cell papilloma of esophagus", "squamous cell papilloma of oesophagus", "squamous cell papilloma of the esophagus", "squamous cell papilloma of the oesophagus"], "xref": ["DOID:959", "MEDGEN:272592", "NCIT:C5344", "UMLS:C1333467", "icd11.foundation:1028052947"]}
{"category": ["biolink:Disease"], "description": "A urolithiasis that involves the lower urinary tract.", "id": "MONDO:0004828", "name": "Lower urinary tract calculus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lower urinary tract urolithiasis", "urolithiasis of lower urinary tract"], "xref": ["DOID:9590", "ICD10CM:N21.9", "ICD9:594", "ICD9:594.8", "ICD9:594.9", "MEDGEN:510219", "SCTID:79509009", "UMLS:C0156264"]}
{"category": ["biolink:Disease"], "description": "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.", "id": "MONDO:0004829", "name": "Krukenberg carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Krukenberg neoplasm", "Krukenberg tumor", "Krukenberg tumour"], "xref": ["DOID:9597", "EFO:1000316", "GARD:0008627", "MEDGEN:9652", "MESH:D007725", "NCIT:C3153", "SCTID:359987004", "UMLS:C0022790"]}
{"category": ["biolink:Disease"], "description": "Inflammation process in fascia.", "id": "MONDO:0004830", "name": "Fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Fascitis", "fascia inflammation", "fasciitis", "fasciitis (disease)", "inflammation of fascia"], "xref": ["DOID:9598", "HP:0100537", "ICD9:729.4", "MEDGEN:4658", "MESH:D005208", "NCIT:C50559", "SCTID:36948007", "UMLS:C0015645"]}
{"category": ["biolink:Disease"], "description": "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.", "id": "MONDO:0004831", "name": "Proliferative fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9599", "MEDGEN:98496", "NCIT:C4728", "SCTID:254737002", "UMLS:C0432528"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.", "id": "MONDO:0004832", "name": "Esophagus leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["esophageal leiomyoma", "esophagus leiomyoma", "leiomyoma of esophagus", "leiomyoma of oesophagus", "leiomyoma of the esophagus", "leiomyoma of the oesophagus"], "xref": ["DOID:960", "MEDGEN:65947", "NCIT:C3866", "SCTID:276805005", "UMLS:C0238114", "icd11.foundation:1369242951"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.", "id": "MONDO:0004833", "name": "Plantar fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9600", "MEDGEN:56201", "MESH:D036981", "SCTID:202882003", "UMLS:C0149756", "icd11.foundation:254630809"]}
{"category": ["biolink:Disease"], "description": "A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.", "id": "MONDO:0004834", "name": "Ischemic fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atypical decubital fibroplasia"], "xref": ["DOID:9601", "MEDGEN:220988", "NCIT:C6483", "SCTID:403990005", "UMLS:C1304514"]}
{"category": ["biolink:Disease"], "description": "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.", "id": "MONDO:0004835", "name": "Necrotizing fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder"], "xref": ["DOID:9602", "ICD10CM:M72.6", "ICD9:728.86", "MEDGEN:66763", "MESH:D019115", "NCIT:C84916", "Orphanet:699697", "SCTID:52486002", "UMLS:C0238124"]}
{"category": ["biolink:Disease"], "description": "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.", "id": "MONDO:0004836", "name": "Intravascular fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["intravascular nodular fasciitis", "intravascular pseudosarcomatous fasciitis"], "xref": ["DOID:9603", "GARD:0024116", "ICD9:728.79", "MEDGEN:140942", "NCIT:C4729", "SCTID:254738007", "UMLS:C0432529"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.", "id": "MONDO:0004837", "name": "Neurofibroma of the esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["esophageal neurofibroma", "esophagus neurofibroma", "neurofibroma of esophagus", "neurofibroma of oesophagus", "neurofibroma of the esophagus", "oesophagus neurofibroma"], "xref": ["DOID:961", "GARD:0024117", "MEDGEN:232164", "NCIT:C5704", "UMLS:C1333463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004838", "name": "Orthostatic proteinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["postural albuminuria"], "xref": ["DOID:9617", "ICD9:593.6", "MEDGEN:534880", "UMLS:C0232867", "icd11.foundation:2144070055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004840", "name": "Non-congenital cyst of kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9621", "ICD9:593.2", "MEDGEN:541491", "SCTID:105999006", "UMLS:C0268799"]}
{"category": ["biolink:Disease"], "description": "Global enlargement of the renal parenchyma in one or both kidneys.", "id": "MONDO:0004841", "name": "Kidney hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertrophy of the kidney", "renal Hypertrophy"], "xref": ["DOID:9622", "ICD10CM:N28.81", "ICD9:593.1", "MEDGEN:510218", "NCIT:C122991", "SCTID:88531004", "UMLS:C0156259"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the oral mucosa due to local or systemic factors.", "id": "MONDO:0004842", "name": "Stomatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of mouth mucosa", "mouth mucosa inflammation", "mucositis oral", "oral mucositis"], "xref": ["DOID:9637", "EFO:0009688", "ICD9:528.0", "ICD9:528.00", "MEDGEN:52511", "MESH:D013280", "NCIT:C26887", "SCTID:61170000", "UMLS:C0038362"]}
{"category": ["biolink:Disease"], "description": "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.", "id": "MONDO:0004843", "name": "Pathologic nystagmus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9650", "ICD9:379.50", "MEDGEN:45166", "MESH:D009759", "UMLS:C0028738"]}
{"category": ["biolink:Disease"], "description": "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.", "id": "MONDO:0004844", "name": "Oral mucosa leukoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leukokeratosis of oral mucosa", "leukoplakia of oral mucosa", "leukoplakia of the oral mucosa", "oral keratoses", "oral keratosis", "oral leukoplakia"], "xref": ["DOID:9655", "ICD9:528.6", "MEDGEN:9738", "MESH:D007972", "NCIT:C3187", "SCTID:414603003", "UMLS:C0023532", "icd11.foundation:417308277"]}
{"category": ["biolink:Disease"], "description": "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.", "id": "MONDO:0004845", "name": "Aphthous stomatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oral aphthae"], "xref": ["DOID:9663", "ICD10CM:K12.0", "ICD9:528.2", "MEDGEN:20959", "UMLS:C0038363"]}
{"category": ["biolink:Disease"], "description": "Vaginal bleeding preceding the 20th week of gestation.", "id": "MONDO:0004846", "name": "Placental abruption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Abruptio placentae, premature separation of placenta", "abruptio placentae", "placental abruption", "placental abruption (disease)", "premature separation of placenta"], "xref": ["DOID:9667", "EFO:1001754", "HP:0011419", "ICD10CM:O45", "ICD9:640.0", "ICD9:640.03", "ICD9:641.20", "MEDGEN:49", "MESH:D000037", "NCIT:C26685", "SCTID:415105001", "UMLS:C0000832"]}
{"category": ["biolink:Disease"], "description": "A cataract with no obvious cause occurring in persons over 50 years old.", "id": "MONDO:0004847", "name": "Senile cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9669", "ICD10CM:H25", "ICD10WHO:H25", "ICD9:366.1", "ICD9:366.10", "MEDGEN:11372", "NCIT:C35012", "SCTID:39450006", "UMLS:C0036646"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mouth mucosa associated with the presence of ulcers.", "id": "MONDO:0004848", "name": "Ulcerative stomatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ulcerative stomatitis"], "xref": ["DOID:9673", "ICD9:528.00", "MEDGEN:21335", "NCIT:C35039", "SCTID:450005", "UMLS:C0038367"]}
{"category": ["biolink:Disease"], "description": "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.", "id": "MONDO:0004849", "name": "Pulmonary emphysema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["emphysema", "emphysema, pulmonary"], "xref": ["DOID:9675", "EFO:0000464", "ICD10CM:J43", "ICD9:492", "ICD9:492.8", "MEDGEN:18764", "MESH:D004646", "MESH:D011656", "NCIT:C3348", "SCTID:87433001", "UMLS:C0034067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004851", "name": "Toxic myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:9694", "GARD:0024118", "ICD9:422.93", "MEDGEN:510049", "SCTID:31993003", "UMLS:C0155691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004852", "name": "Gonococcal keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9697", "GARD:0024119", "ICD10CM:A54.33", "ICD9:098.43", "MEDGEN:509209", "SCTID:40149008", "UMLS:C0153214", "icd11.foundation:200847304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004853", "name": "Gonococcal endophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9698", "GARD:0024120", "ICD9:098.42", "MEDGEN:509208", "SCTID:111807001", "UMLS:C0153213"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.", "id": "MONDO:0004854", "name": "Ophthalmia neonatorum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gonococcal conjunctivitis (neonatorum)", "neonatal conjunctivitis"], "xref": ["DOID:9699", "GARD:0024121", "ICD9:771.6", "MEDGEN:14489", "MESH:D009878", "NCIT:C116815", "SCTID:34298002", "UMLS:C0029076"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.", "id": "MONDO:0004855", "name": "Tenosynovitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Tenosynovitides", "tendon sheath inflammation"], "xref": ["DOID:970", "EFO:1001435", "MEDGEN:52670", "MESH:D013717", "SCTID:67801009", "UMLS:C0039520", "icd11.foundation:163006370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004856", "name": "Rosacea conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9709", "ICD10CM:H10.82", "ICD9:372.31", "MEDGEN:509812", "SCTID:10128002", "UMLS:C0155152"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.", "id": "MONDO:0004857", "name": "Tendinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of tendon", "tendon inflammation", "tendonitis"], "xref": ["DOID:971", "MEDGEN:21094", "NCIT:C97141", "SCTID:34840004", "UMLS:C0039503"]}
{"category": ["biolink:Disease"], "description": "Blockage of the normal flow of the contents of the gallbladder.", "id": "MONDO:0004858", "name": "Occlusion of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["obstruction of gallbladder"], "xref": ["DOID:9714", "ICD10CM:K82.0", "ICD9:575.2", "MEDGEN:57845", "SCTID:197416005", "UMLS:C0156214", "icd11.foundation:1945915335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004859", "name": "Hydrops of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9717", "ICD10CM:K82.1", "ICD9:575.3", "MEDGEN:509035", "SCTID:47312008", "UMLS:C0152445", "icd11.foundation:532595534"]}
{"category": ["biolink:Disease"], "description": "A disease involving the vitreous humor.", "id": "MONDO:0004860", "name": "Vitreous disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of vitreous humor", "disease of vitreous humour", "disease or disorder of vitreous humor", "disease or disorder of vitreous humour", "disorder of vitreous humor", "disorder of vitreous humour", "vitreous humor disease", "vitreous humor disease or disorder", "vitreous humour disease", "vitreous humour disease or disorder"], "xref": ["DOID:9720", "ICD9:379.24", "MEDGEN:1843447", "UMLS:C0700141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004861", "name": "Ophthalmia nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9722", "ICD10CM:H16.24", "ICD9:360.14", "MEDGEN:509654", "SCTID:12371008", "UMLS:C0154775", "icd11.foundation:691596189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004862", "name": "Vitreous abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9723", "GARD:0024124", "ICD9:360.04", "MEDGEN:508292", "SCTID:48142003", "UMLS:C0042904", "icd11.foundation:1185507932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004863", "name": "Purulent endophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9724", "GARD:0024125", "ICD10CM:H44.0", "ICD9:360.0", "ICD9:360.00", "MEDGEN:537163", "SCTID:41720003", "UMLS:C0259800", "icd11.foundation:830703931"]}
{"category": ["biolink:Disease"], "description": "A blue drum syndrome caused by an allergen.", "id": "MONDO:0004864", "name": "Acute allergic mucoid otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9735", "ICD9:381.05", "MEDGEN:509957", "SCTID:8326008", "UMLS:C0155419"]}
{"category": ["biolink:Disease"], "description": "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.", "id": "MONDO:0004865", "name": "Blue drum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute mucoid otitis media"], "xref": ["DOID:9736", "ICD9:381.02", "MEDGEN:583099", "SCTID:52353000", "UMLS:C0395863"]}
{"category": ["biolink:Disease"], "description": "A disease involving the pharyngotympanic tube.", "id": "MONDO:0004866", "name": "Eustachian tube disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of pharyngotympanic tube", "disease or disorder of pharyngotympanic tube", "disorder of pharyngotympanic tube", "eustachian tube disorder", "pharyngotympanic tube disease", "pharyngotympanic tube disease or disorder"], "xref": ["DOID:9739", "EFO:0009667", "ICD10CM:H68", "ICD9:381.8", "ICD9:381.89", "ICD9:381.9", "MEDGEN:543364", "SCTID:69494008", "UMLS:C0271468"]}
{"category": ["biolink:Disease"], "description": "A disease involving the upper respiratory tract.", "id": "MONDO:0004867", "name": "Upper respiratory tract disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of upper respiratory tract", "disease or disorder of upper respiratory tract", "disorder of upper respiratory tract", "upper respiratory tract disease", "upper respiratory tract disease or disorder"], "xref": ["DOID:974", "ICD9:478.1", "ICD9:478.19", "ICD9:478.9", "MEDGEN:538406", "SCTID:201060008", "UMLS:C0264221"]}
{"category": ["biolink:Disease"], "description": "A disease involving the biliary tree.", "id": "MONDO:0004868", "name": "Biliary tract disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["biliary tree disease", "biliary tree disease or disorder", "disease of biliary tree", "disease or disorder of biliary tree", "disorder of biliary tree"], "xref": ["DOID:9741", "EFO:0009534", "ICD9:576.9", "MEDGEN:108201", "MESH:D001660", "SCTID:105997008", "UMLS:C0549613"]}
{"category": ["biolink:Disease"], "description": "A varicose disease that involves the pelvic region of trunk.", "id": "MONDO:0004869", "name": "Pelvic varices", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pelvic region of trunk varicose disease", "varicose disease of pelvic region of trunk"], "xref": ["DOID:9742", "ICD10CM:I86.2", "ICD9:456.5", "MEDGEN:510082", "SCTID:17406005", "UMLS:C0155795", "icd11.foundation:1717989511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004871", "name": "Perianal hematoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Thrombosed external haemorrhoids", "external thrombosed hemorrhoids"], "xref": ["DOID:9745", "ICD9:455.4", "MEDGEN:510079", "SCTID:26373009", "UMLS:C0155784"]}
{"category": ["biolink:Disease"], "description": "Dilated veins in the anal canal.", "id": "MONDO:0004872", "name": "Hemorrhoid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Haemorrhoids", "Hemorrhoids", "hemorrhoid"], "xref": ["DOID:9746", "EFO:0009552", "ICD9:455", "ICD9:455.8", "MEDGEN:5507", "MESH:D006484", "NCIT:C26792", "SCTID:70153002", "UMLS:C0019112", "icd11.foundation:1352501137"]}
{"category": ["biolink:Disease"], "description": "A hemorrhoid which originates above the dentate line.", "id": "MONDO:0004873", "name": "Internal hemorrhoid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["internal hemorrhoid"], "xref": ["DOID:9749", "ICD9:455.2", "ICD9:455.6", "MEDGEN:75549", "NCIT:C35319", "SCTID:90458007", "UMLS:C0265034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004874", "name": "Ganglion or cyst of synovium/tendon/bursa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9754", "ICD9:727.49", "MEDGEN:578881", "UMLS:C0349693"]}
{"category": ["biolink:Disease"], "description": "Cholecystitis that is characterized by nodules containing lipid.", "id": "MONDO:0004875", "name": "Xanthogranulomatous cholecystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9766", "MEDGEN:235004", "MESH:C536762", "NCIT:C35792", "SCTID:448286002", "UMLS:C1337035", "icd11.foundation:294033251"]}
{"category": ["biolink:Disease"], "description": "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.", "id": "MONDO:0004876", "name": "Myocardial stunning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9767", "MEDGEN:61526", "MESH:D017682", "UMLS:C0206146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004877", "name": "Transient neonatal thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:9771", "GARD:0024126", "ICD10CM:P61.0", "ICD9:776.1", "MEDGEN:472906", "SCTID:23205009", "UMLS:C0158991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004878", "name": "Female breast upper-outer quadrant cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9773", "ICD9:174.4", "MEDGEN:509326", "SCTID:188154003", "UMLS:C0153552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004879", "name": "Senile atrophy of choroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9776", "ICD9:363.41", "MEDGEN:509701", "SCTID:38513001", "UMLS:C0154891"]}
{"category": ["biolink:Disease"], "description": "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.", "id": "MONDO:0004880", "name": "Bowel dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lower digestive tract", "lower digestive tract disease"], "xref": ["DOID:9779", "ICD9:564.9", "MEDGEN:384468", "SCTID:235594008", "UMLS:C2004461"]}
{"category": ["biolink:Disease"], "description": "A form of myositis that is characterized by the formation of connective tissue within the muscle.", "id": "MONDO:0004881", "name": "Myositis fibrosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["interstitial myositis"], "xref": ["DOID:9788", "GARD:0024127", "ICD10CM:M60.1", "ICD9:728.81", "MEDGEN:57855", "NCIT:C26985", "SCTID:55925001", "UMLS:C0158362"]}
{"category": ["biolink:Disease"], "description": "A angioid streaks that involves the optic choroid.", "id": "MONDO:0004882", "name": "Angioid streaks of choroid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angioid streaks of optic choroid", "optic choroid angioid streaks"], "xref": ["DOID:979", "GARD:0024128", "ICD9:363.43", "MEDGEN:507444", "SCTID:86103006", "UMLS:C0002983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004883", "name": "Hereditary choroidal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9794", "ICD9:363.5", "ICD9:363.50", "MEDGEN:509703", "SCTID:74469006", "UMLS:C0154893"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that involves the eye.", "id": "MONDO:0004884", "name": "Eye degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["degenerative disorder of eye", "eye neurodegenerative disease", "eyeball of camera-type eye neurodegenerative disease", "neurodegenerative disease of eyeball of camera-type eye"], "xref": ["DOID:9799", "ICD10CM:H44.5", "ICD9:360.2", "ICD9:360.20", "ICD9:360.29", "ICD9:360.4", "ICD9:360.40", "MEDGEN:509655", "SCTID:62585004", "UMLS:C0154777"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that involves the optic choroid.", "id": "MONDO:0004885", "name": "Choroidal sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["choroidal degenerations", "neurodegenerative disease of optic choroid", "optic choroid neurodegenerative disease"], "xref": ["DOID:980", "ICD9:363.4", "ICD9:363.40", "MEDGEN:137998", "MESH:C535358", "SCTID:406446000", "UMLS:C0344297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004886", "name": "Diffuse secondary choroid atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:981", "ICD9:363.42", "MEDGEN:509702", "SCTID:193463006", "UMLS:C0154892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004888", "name": "Partial circumpapillary choroid dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9811", "ICD9:363.51", "MEDGEN:509704", "SCTID:193466003", "UMLS:C0154895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004889", "name": "Total central choroidal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["total central choroidal atrophy"], "xref": ["DOID:9820", "GARD:0024129", "MEDGEN:509706", "SCTID:392049002", "UMLS:C0154898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004890", "name": "Partial central choroid dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9822", "GARD:0024130", "ICD9:363.53", "MEDGEN:573145", "NANDO:1200939", "SCTID:193468002", "UMLS:C0339427"]}
{"category": ["biolink:Disease"], "description": "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)", "id": "MONDO:0004891", "name": "Hyperopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypermetropia"], "xref": ["DOID:9834", "ICD10CM:H52.0", "ICD9:367.0", "MEDGEN:43780", "MESH:D006956", "SCTID:38101003", "UMLS:C0020490"]}
{"category": ["biolink:Disease"], "description": "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.", "id": "MONDO:0004892", "name": "Refractive error", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9835", "MEDGEN:20508", "MESH:D012030", "SCTID:39021009", "UMLS:C0034951"]}
{"category": ["biolink:Disease"], "description": "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.", "id": "MONDO:0004893", "name": "Hypertropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9837", "ICD9:378.31", "MEDGEN:43790", "NCIT:C34716", "SCTID:40608009", "UMLS:C0020575", "icd11.foundation:1382376000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004894", "name": "Cyclotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9838", "ICD10CM:H50.41", "ICD9:378.33", "MEDGEN:508927", "SCTID:70486007", "UMLS:C0152209", "icd11.foundation:1259996412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004895", "name": "Accommodative esotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9839", "ICD9:378.35", "MEDGEN:102331", "SCTID:419494007", "UMLS:C0155336", "icd11.foundation:1512812109"]}
{"category": ["biolink:Disease"], "description": "A form of strabismus in which one or both eyes are deviated medially.", "id": "MONDO:0004896", "name": "Esotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["internal strabismus"], "xref": ["DOID:9840", "ICD10CM:H50.0", "ICD9:378.0", "ICD9:378.00", "MEDGEN:4550", "MESH:D004948", "NCIT:C34596", "SCTID:16596007", "UMLS:C0014877", "icd11.foundation:459766644"]}
{"category": ["biolink:Disease"], "description": "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.", "id": "MONDO:0004897", "name": "Hypotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["downward ocular deviation", "hypotropia", "sunset sign"], "xref": ["DOID:9841", "ICD9:378.32", "MEDGEN:101826", "NCIT:C42086", "SCTID:29491004", "UMLS:C0152208", "icd11.foundation:1840811827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004898", "name": "Total circumpapillary dystrophy of choroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circumpapillary dystrophy of choroid, total"], "xref": ["DOID:9842", "ICD9:363.52", "MEDGEN:509705", "SCTID:59753003", "UMLS:C0154896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004899", "name": "Monofixation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microstrabismus", "microtropia"], "xref": ["DOID:9843", "ICD10CM:H50.42", "ICD9:378.34", "MEDGEN:573259", "SCTID:14785004", "UMLS:C0339611", "icd11.foundation:1068979205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004900", "name": "Peripheral vertigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9847", "ICD9:386.1", "ICD9:386.10", "ICD9:386.19", "MEDGEN:102334", "SCTID:50438001", "UMLS:C0155501"]}
{"category": ["biolink:Disease"], "description": "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.", "id": "MONDO:0004901", "name": "Lingual-facial-buccal dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9854", "ICD9:333.82", "MEDGEN:57747", "SCTID:49386006", "UMLS:C0152115"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004902", "name": "Interstitial keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9857", "ICD9:370.50", "MEDGEN:509779", "UMLS:C0155088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004903", "name": "Deep keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9858", "ICD9:370.5", "ICD9:370.59", "MEDGEN:755799", "SCTID:445741003", "UMLS:C2960633"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004904", "name": "Toxic maculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["toxic maculopathy of retina"], "xref": ["DOID:9867", "ICD10CM:H35.38", "ICD9:362.55", "MEDGEN:543164", "SCTID:44115007", "UMLS:C0271086", "icd11.foundation:1889317154"]}
{"category": ["biolink:Disease"], "description": "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.", "id": "MONDO:0004905", "name": "Intestinal disaccharidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestinal disaccharidase deficiency and disaccharide malabsorption"], "xref": ["DOID:9868", "EFO:1000060", "ICD9:271.3", "MEDGEN:675093", "NCIT:C34731", "SCTID:22169002", "UMLS:C0699848"]}
{"category": ["biolink:Disease"], "description": "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.", "id": "MONDO:0004907", "name": "Alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["alopecia", "hair loss", "loss Of hair"], "xref": ["DOID:987", "ICD9:704.0", "ICD9:704.00", "ICD9:704.09", "MEDGEN:7982", "MESH:D000505", "NCIT:C50575", "Orphanet:79364", "SCTID:56317004", "UMLS:C0002170", "icd11.foundation:1313926062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004909", "name": "Urethral gland abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9877", "ICD9:597.0", "MEDGEN:754230", "SCTID:444820005", "UMLS:C2919928", "icd11.foundation:2030970195"]}
{"category": ["biolink:Disease"], "description": "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.", "id": "MONDO:0004910", "name": "Mitral valve prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["barlow's syndrome", "floppy mitral valve", "mitral valve prolapse", "mitral valve prolapse (disease)", "mitral valve prolapse syndrome", "prolapse, mitral valve", "valve, prolapse Of mitral"], "xref": ["DOID:988", "HP:0001634", "MEDGEN:7671", "MESH:D008945", "NCIT:C50655", "SCTID:409712001", "SCTID:8074002", "UMLS:C0026267", "icd11.foundation:1085590500"]}
{"category": ["biolink:Disease"], "description": "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.", "id": "MONDO:0004911", "name": "Cardiovascular syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9880", "GARD:0027709", "ICD9:093.8", "ICD9:093.89", "ICD9:093.9", "MEDGEN:21055", "SCTID:83883001", "UMLS:C0039130", "icd11.foundation:183283901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004913", "name": "Alternating esotropia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9888", "ICD10CM:H50.05", "ICD9:378.05", "MEDGEN:57515", "SCTID:39837002", "UMLS:C0152205", "icd11.foundation:935468618"]}
{"category": ["biolink:Disease"], "description": "A hordeolum that results from infection of a meibomian gland.", "id": "MONDO:0004917", "name": "Internal hordeolum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hordeolum of tarsal gland", "tarsal gland hordeolum"], "xref": ["DOID:9908", "ICD9:373.12", "MEDGEN:43227", "SCTID:414521009", "UMLS:C0085690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004918", "name": "Central corneal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9910", "ICD10CM:H16.01", "ICD9:370.03", "MEDGEN:509767", "SCTID:7426009", "UMLS:C0155069", "icd11.foundation:457542318"]}
{"category": ["biolink:Disease"], "description": "A hydrocele that has active infection and inflammation of the fluid-filled sac surrounding a testicle, caused by microbial invasion, with clinical features such as pain, swelling, redness, or systemic signs of infection. The infection often arises from contiguous genitourinary or anorectal sources and is confirmed by microbiological evidence.", "id": "MONDO:0004919", "name": "Infected hydrocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9911", "ICD10CM:N43.1", "ICD9:603.1", "MEDGEN:510235", "SCTID:11666007", "UMLS:C0156300", "icd11.foundation:329423502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004920", "name": "Hydrocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9912", "ICD9:603.8", "ICD9:603.9", "MEDGEN:318568", "SCTID:55434001", "UMLS:C1720771"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.", "id": "MONDO:0004922", "name": "Developmental coordination disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clumsy child syndrome", "development coordination disorder", "developmental dyspraxia"], "xref": ["DOID:9923", "ICD9:315.4", "MEDGEN:41511", "MESH:D019957", "NCIT:C92561", "SCTID:27544004", "UMLS:C0011757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004923", "name": "Chronic inflammation of lacrimal passage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9935", "ICD9:375.4", "MEDGEN:509865", "SCTID:267653001", "UMLS:C0155239"]}
{"category": ["biolink:Disease"], "description": "Chronic form of actinomycosis.", "id": "MONDO:0004924", "name": "Chronic canaliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["actinomycosis, chronic", "chronic actinomycosis"], "xref": ["DOID:9936", "GARD:0024132", "ICD9:375.41", "MEDGEN:509866", "SCTID:26479009", "UMLS:C0155240"]}
{"category": ["biolink:Disease"], "description": "Chronic form of dacryocystitis.", "id": "MONDO:0004925", "name": "Chronic dacryocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dacryocystitis, chronic"], "xref": ["DOID:9937", "ICD10CM:H04.41", "ICD9:375.42", "MEDGEN:508388", "SCTID:84627005", "UMLS:C0149506", "icd11.foundation:617640909"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lacrimal sac.", "id": "MONDO:0004926", "name": "Dacryocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dacryoadenitides", "Dacryocystitides", "inflammation of lacrimal sac", "lacrimal sac inflammation"], "xref": ["DOID:9938", "ICD9:375.30", "MEDGEN:3686", "MESH:D003607", "NCIT:C34521", "SCTID:85777005", "UMLS:C0010930", "icd11.foundation:1034960983"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.", "id": "MONDO:0004927", "name": "Dacryocystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lacrimal mucocele"], "xref": ["DOID:9939", "ICD9:375.43", "MEDGEN:472901", "UMLS:C0155241"]}
{"category": ["biolink:Disease"], "description": "Any disorder of the lymph nodes.", "id": "MONDO:0004928", "name": "Lymph node disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lymph node", "disease or disorder of lymph node", "disorder of lymph node", "lymph node disease", "lymph node disease or disorder", "lymph node disorder"], "xref": ["DOID:9942", "MEDGEN:78802", "NCIT:C35346", "SCTID:76616003", "UMLS:C0272394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004929", "name": "Constant exophthalmos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9945", "ICD10CM:H05.24", "ICD9:376.31", "MEDGEN:509884", "SCTID:89907009", "UMLS:C0155267", "icd11.foundation:2100094996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004930", "name": "Steroid-induced glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["corticosteroid-induced glaucoma"], "xref": ["DOID:9946", "ICD9:365.3", "ICD9:365.89", "MEDGEN:573238", "SCTID:1654001", "UMLS:C0339578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004931", "name": "Residual stage corticosteroid-induced glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9948", "ICD9:365.32", "MEDGEN:573240", "SCTID:193549003", "UMLS:C0339580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004932", "name": "Null-cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9954", "GARD:0024133", "MEDGEN:507917", "SCTID:277574007", "UMLS:C0023483"]}
{"category": ["biolink:Disease"], "description": "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.", "id": "MONDO:0004933", "name": "Hypoplastic left heart syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLHS"], "xref": ["DOID:9955", "GARD:0006739", "ICD10CM:Q23.4", "ICD9:746.7", "MEDGEN:57746", "MESH:D018636", "MedDRA:10021076", "NANDO:1200705", "NANDO:2100071", "NANDO:2200249", "NCIT:C98894", "NORD:1277", "OMIMPS:241550", "Orphanet:2248", "SCTID:62067003", "UMLS:C0152101", "icd11.foundation:1811800027"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)", "id": "MONDO:0004934", "name": "Periostitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["periosteum inflammation", "periostitis (disease)"], "xref": ["DOID:9957", "HP:0040165", "MEDGEN:45816", "MESH:D010522", "SCTID:41910004", "UMLS:C0031111", "icd11.foundation:505688542"]}
{"category": ["biolink:Disease"], "description": "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.", "id": "MONDO:0004936", "name": "Uterine inversion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:997", "ICD9:665.2", "MEDGEN:57916", "MESH:D019687", "SCTID:27215002", "UMLS:C0162482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004937", "name": "Hypervitaminosis d", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypervitaminosis type D"], "xref": ["DOID:9971", "ICD10CM:E67.3", "ICD9:278.4", "MEDGEN:730644", "SCTID:27712000", "UMLS:C1442839", "icd11.foundation:602997191"]}
{"category": ["biolink:Disease"], "description": "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.", "id": "MONDO:0004938", "name": "Substance dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dependence"], "xref": ["DOID:9973", "ICD9:304.60", "MEDGEN:20989", "NCIT:C35458", "SCTID:2403008", "UMLS:C0038580"]}
{"category": ["biolink:Disease"], "description": "A drug dependence for a hallucinogenic substance.", "id": "MONDO:0004939", "name": "Hallucinogen dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9977", "ICD10CM:F16.2", "ICD9:304.5", "ICD9:304.50", "MEDGEN:5415", "NCIT:C34657", "SCTID:38247002", "UMLS:C0018528", "icd11.foundation:2041952725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0004940", "name": "Acute female pelvic peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:9978", "ICD10CM:N73.3", "ICD9:614.5", "MEDGEN:541683", "SCTID:85051008", "UMLS:C0269032"]}
{"category": ["biolink:Disease"], "description": "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)", "id": "MONDO:0004941", "name": "Eosinophilia-myalgia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["eosinophilia myalgia syndrome"], "xref": ["DOID:998", "EFO:1001316", "GARD:0006345", "ICD9:710.5", "MEDGEN:38987", "MESH:D016603", "NORD:1094", "SCTID:95416007", "UMLS:C0085179", "icd11.foundation:1361333197"]}
{"category": ["biolink:Disease"], "description": "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.", "id": "MONDO:0004942", "name": "Orbit lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoma of orbit", "lymphoma of the orbit", "primary orbit lymphoma"], "xref": ["DOID:9986", "GARD:0009719", "MEDGEN:75744", "MESH:C537131", "NCIT:C6244", "SCTID:13048006", "UMLS:C0271333"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.", "id": "MONDO:0004943", "name": "Orbit sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["orbit of skull sarcoma", "orbital sarcoma", "sarcoma of orbit", "sarcoma of orbit of skull", "sarcoma of the orbit"], "xref": ["DOID:9987", "GARD:0024134", "MEDGEN:277449", "NCIT:C6095", "SCTID:699354006", "UMLS:C1335131"]}
{"category": ["biolink:Disease"], "description": "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.", "id": "MONDO:0004944", "name": "Neurosyphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurosyphilis"], "xref": ["DOID:9988", "GARD:0008729", "ICD10CM:A52.3", "ICD9:094", "ICD9:094.89", "ICD9:094.9", "MEDGEN:14360", "MESH:D009494", "NCIT:C84935", "SCTID:26039008", "UMLS:C0027927", "icd11.foundation:2118246468"]}
{"category": ["biolink:Disease"], "description": "Abnormally low level of glucose in the blood.", "id": "MONDO:0004946", "name": "Hypoglycemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blood glucose, Low", "glucose, Low blood", "low blood glucose"], "xref": ["DOID:9993", "ICD9:251.1", "ICD9:251.2", "MEDGEN:6979", "MESH:D007003", "NCIT:C3126", "SCTID:302866003", "UMLS:C0020615"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)", "id": "MONDO:0004947", "name": "B-cell acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["B lymphoblastic leukemia/lymphoma", "precursor B lymphoblastic leukemia/lymphoma", "precursor B-lymphoblastic lymphoma/leukemia"], "xref": ["DOID:0080630", "DOID:7061", "EFO:0000094", "GARD:0024135", "MEDGEN:226949", "NCIT:C8936", "SCTID:277571004", "UMLS:C1292769"]}
{"category": ["biolink:Disease"], "description": "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.", "id": "MONDO:0004948", "name": "B-cell chronic lymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B cell CLL", "B cell chronic lymphocytic leukaemia", "B cell chronic lymphocytic leukemia", "B cell lymphocytic leukaemia", "B cell lymphocytic leukemia", "B-CLL", "B-cell CLL", "B-cell chronic lymphocytic leukemia", "B-cell chronic lymphogenous leukaemia", "B-cell chronic lymphogenous leukemia", "B-cell chronic lymphoid leukaemia", "B-cell chronic lymphoid leukemia", "B-cell lymphocytic leukaemia", "B-cell lymphocytic leukemia", "BCLL", "CLL", "Chronic Lymphocytic Leukemia", "chronic B-cell lymphocytic leukaemia", "chronic B-cell lymphocytic leukemia", "chronic lymphatic leukemia", "chronic lymphocytic leukaemia (CLL)", "chronic lymphocytic leukemia", "chronic lymphocytic leukemia (CLL)", "chronic lymphogenous leukaemia", "chronic lymphogenous leukemia", "hematopoeitic - chronic lymphocytic leukaemia (CLL)", "hematopoeitic - chronic lymphocytic leukemia (CLL)", "lymphoplasmacytic leukemia"], "xref": ["DOID:1040", "EFO:0000095", "GARD:0006104", "ICD10CM:C91.1", "ICD9:204.1", "MEDGEN:44120", "MESH:D015451", "MedDRA:10008958", "NCIT:C3163", "NORD:971", "OMIM:151400", "Orphanet:67038", "UMLS:C0023434"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).", "id": "MONDO:0004949", "name": "Neoplasm of mature b-cells", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mature B-cell lymphocytic neoplasm", "mature B-cell neoplasm"], "xref": ["DOID:706", "EFO:0000096", "GARD:0024136", "ICD9:202.0", "MEDGEN:235305", "NCIT:C27910", "ONCOTREE:MBN", "SCTID:269476000", "UMLS:C1334633"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the stomach.", "id": "MONDO:0004950", "name": "Gastric carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of stomach", "carcinoma of the stomach", "gastric carcinoma", "stomach carcinoma"], "xref": ["DOID:10538", "DOID:5517", "EFO:0000178", "GARD:0027710", "ICD9:151.3", "MEDGEN:147066", "NCIT:C4911", "SCTID:187741001", "UMLS:C0699791", "icd11.foundation:1503707183"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.", "id": "MONDO:0004952", "name": "Hodgkins lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HL", "Hodgkin disease", "Hodgkin lymphoma", "Hodgkin's Disease", "Hodgkin's disease", "Hodgkin's lymphoma"], "xref": ["DOID:8567", "EFO:0000183", "GARD:0002714", "ICD10CM:C81", "ICD9:201", "ICD9:201.0", "ICD9:201.1", "ICD9:201.2", "ICD9:201.9", "ICD9:201.90", "ICDO:9650/3", "MESH:D006689", "NANDO:2200024", "NCIT:C9357", "NORD:1246", "ONCOTREE:HL", "Orphanet:98293", "icd11.foundation:1528863768"]}
{"category": ["biolink:Disease"], "description": "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.", "id": "MONDO:0004953", "name": "Invasive ductal breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infiltrating ductal adenocarcinoma", "infiltrating ductal breast carcinoma", "infiltrating ductal carcinoma", "infiltrating ductal carcinoma of breast", "infiltrating ductal carcinoma of the breast", "invasive ductal adenocarcinoma", "invasive ductal breast carcinoma", "invasive ductal carcinoma", "invasive ductal carcinoma of breast", "invasive ductal carcinoma of the breast", "invasive ductal carcinoma, NST", "invasive ductal carcinoma, No specific type"], "xref": ["DOID:3008", "EFO:0000186", "ICD9:174.8", "ICDO:8500/3", "ICDO:8521/3", "MEDGEN:730612", "NCIT:C4194", "ONCOTREE:IDC", "SCTID:408643008", "UMLS:C1412014"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the prostate gland and has spread to other anatomic sites.", "id": "MONDO:0004956", "name": "Metastatic prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metastatic prostate cancer", "metastatic prostate carcinoma", "prostate cancer metastatic", "prostate carcinoma metastatic"], "xref": ["EFO:0000196", "ICD9:199.1", "MEDGEN:215232", "NCIT:C8946", "SCTID:314994000", "UMLS:C0936223"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.", "id": "MONDO:0004957", "name": "Mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma, mucinous, malignant", "colloid adenocarcinoma", "colloid carcinoma", "gelatinous adenocarcinoma", "gelatinous carcinoma", "mucin-producing adenocarcinoma (morphologic abnormality)", "mucinous adenocarcinoma", "mucinous carcinoma", "mucinuos carcinoma", "mucoid adenocarcinoma", "mucoid carcinoma", "mucous adenocarcinoma", "mucous carcinoma"], "xref": ["DOID:3030", "EFO:0000197", "ICDO:8480/3", "MEDGEN:2844", "MESH:D002288", "NCIT:C26712", "ONCOTREE:CEMU", "UMLS:C0007130", "icd11.foundation:529352875"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.", "id": "MONDO:0004958", "name": "Oral cavity squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mouth scc", "mouth squamous cell carcinoma", "oral cavity scc", "oral cavity squamous cell cancer", "oral cavity squamous cell carcinoma", "scc of mouth", "scc of oral cavity", "scc of the mouth", "scc of the oral cavity", "squamous cell carcinoma of mouth", "squamous cell carcinoma of oral cavity", "squamous cell carcinoma of the mouth", "squamous cell carcinoma of the oral cavity"], "xref": ["DOID:0050866", "EFO:0000199", "GARD:0017932", "MEDGEN:108436", "NCIT:C4833", "ONCOTREE:OCSC", "Orphanet:502363", "SCTID:307502000", "UMLS:C0585362"]}
{"category": ["biolink:Disease"], "description": "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.", "id": "MONDO:0004959", "name": "Plasma cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["plasma cell dyscrasia", "plasma cell neoplasm", "plasma cell tumor", "plasma cell tumor, malignant", "plasmacytic neoplasm", "plasmacytic tumor", "plasmacytic tumour"], "xref": ["DOID:6536", "EFO:0000200", "GARD:0019440", "ICD9:238.6", "MEDGEN:368758", "MESH:D054219", "NCIT:C4665", "Orphanet:98282", "SCTID:415111003", "UMLS:C1959632"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.", "id": "MONDO:0004960", "name": "Monoclonal gammopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0000203", "GARD:0024137", "ICD10CM:D47.2", "MEDGEN:210153", "MESH:D010265", "NCIT:C35548", "SCTID:109983007", "UMLS:C1136085"]}
{"category": ["biolink:Disease"], "description": "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.", "id": "MONDO:0004961", "name": "Stage i endometrioid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.", "id": "MONDO:0004962", "name": "Stage ii endometrioid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)", "id": "MONDO:0004963", "name": "T-cell acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["T acute lymphoblastic leukaemia", "T acute lymphoblastic leukemia", "T-ALL", "T-cell ALL", "T-cell acute lymphoblastic leukaemia", "T-cell acute lymphoblastic leukemia", "T-cell acute lymphocytic leukemia", "T-cell type acute leukaemia", "T-cell type acute leukemia", "acute T cell leukemia", "acute T cell lymphoblastic leukaemia", "acute T cell lymphoblastic leukemia", "acute T cell lymphocytic leukaemia", "acute T cell lymphocytic leukemia", "acute T-cell leukaemia", "acute T-cell leukemia", "acute T-cell lymphoblastic leukaemia", "acute T-cell lymphoblastic leukemia", "acute T-cell lymphocytic leukaemia", "acute T-cell lymphocytic leukemia", "precursor T lymphoblastic leukaemia", "precursor T-lymphoblastic leukaemia", "precursor T-lymphoblastic leukaemia (T-cell ALL)", "precursor T-lymphoblastic leukemia", "precursor T-lymphoblastic leukemia (T-cell ALL)"], "xref": ["CSP:2004-1600", "CSP:2004-1803", "DOID:5603", "EFO:0000209", "GARD:0024138", "HGNC:5056", "ICDO:9837/3", "MEDGEN:368378", "NANDO:2200003", "NCIT:C3183", "SCTID:277575008", "UMLS:C1961099"]}
{"category": ["biolink:Disease"], "description": "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.", "id": "MONDO:0004964", "name": "Peripheral t-cell lymphoma, not otherwise specified", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["peripheral T-cell lymphoma, not otherwise specified"], "xref": ["EFO:0000211", "GARD:0027711", "NANDO:2200028", "NCIT:C4340", "ONCOTREE:PTCL", "icd11.foundation:855224800"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the acinar cell", "id": "MONDO:0004965", "name": "Acinar cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinar adenocarcinoma", "acinar carcinoma", "acinar cell adenocarcinoma", "acinar cell carcinoma", "acinar cell carcinoma (morphologic abnormality)", "acinic cell adenocarcinoma", "acinic cell carcinoma", "carcinoma of acinar cell", "carcinoma, acinar cell, malignant"], "xref": ["DOID:3025", "EFO:0000216", "GARD:0008568", "ICDO:8550/3", "MEDGEN:61660", "MESH:D018267", "NCIT:C3768", "ONCOTREE:ACCC", "UMLS:C0206685", "icd11.foundation:1322159869"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the stomach.", "id": "MONDO:0004966", "name": "Gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastritis", "gastritis (disease)", "inflammation of stomach", "stomach inflammation"], "xref": ["DOID:4029", "EFO:0000217", "HP:0005263", "ICD9:535.0", "ICD9:535.00", "ICD9:535.01", "ICD9:535.4", "ICD9:535.40", "ICD9:535.41", "MEDGEN:4843", "MESH:D005756", "NCIT:C26780", "SCTID:4556007", "UMLS:C0017152", "icd11.foundation:1871672644"]}
{"category": ["biolink:Disease"], "description": "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.", "id": "MONDO:0004967", "name": "Acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ALL", "ALL - acute lymphocytic leukaemia", "ALL - acute lymphocytic leukemia", "acute lymphoblastic leukaemia (ALL)", "acute lymphoblastic leukaemia (disease)", "acute lymphoblastic leukemia", "acute lymphoblastic leukemia (ALL)", "acute lymphoblastic leukemia (disease)", "acute lymphoblastic leukemia/lymphoma", "acute lymphocytic leukaemia", "acute lymphocytic leukemia", "acute lymphocytic leukemias", "acute lymphogenous leukaemia", "acute lymphogenous leukemia", "acute lymphoid leukaemia", "acute lymphoid leukemia", "leukemia, lymphoblastic, malignant", "lymphoblastic leukemia, acute", "precursor Lymphoblasic leukaemia", "precursor Lymphoblasic leukemia", "precursor cell lymphoblastic leukaemia", "precursor cell lymphoblastic leukemia", "precursor lymphoblastic leukaemia", "precursor lymphoblastic leukemia"], "xref": ["DOID:9952", "EFO:0000220", "GARD:0000522", "HP:0006721", "ICD10CM:C91.0", "ICD9:204", "ICD9:204.0", "ICD9:204.00", "ICD9:204.9", "ICDO:9835/3", "MEDGEN:7317", "NCIT:C3167", "Orphanet:513", "SCTID:91857003", "UMLS:C0023449"]}
{"category": ["biolink:Disease"], "description": "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.", "id": "MONDO:0004969", "name": "Acute quadriplegic myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0000225", "GARD:0024139", "MEDGEN:1843474", "UMLS:C1135345"]}
{"category": ["biolink:Disease"], "description": "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.", "id": "MONDO:0004970", "name": "Adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma", "adenocarcinoma NOS (morphologic abnormality)", "adenocarcinoma, malignant", "adenocarcinoma, no subtype (morphologic abnormality)", "adenocarcinomas"], "xref": ["CSP:2000-0386", "DOID:299", "EFO:0000228", "ICDO:8140/3", "MEDGEN:122", "MESH:D000230", "NCIT:C2852", "ONCOTREE:ADNOS", "SCTID:443961001", "UMLS:C0001418"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.", "id": "MONDO:0004971", "name": "Adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocystic carcinoma", "adenoid cystic cancer", "adenoid cystic carcinoma", "cylindroid adenocarcinoma"], "xref": ["DOID:0080202", "EFO:0000231", "GARD:0005743", "ICDO:8200/3", "MEDGEN:41382", "MESH:D003528", "NCIT:C2970", "ONCOTREE:ACYC", "UMLS:C0010606", "icd11.foundation:2127202862"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.", "id": "MONDO:0004972", "name": "Adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma"], "xref": ["DOID:657", "EFO:0000232", "ICDO:8140/0", "MEDGEN:125", "MESH:D000236", "NCIT:C2855", "SCTID:443416007", "UMLS:C0001430"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.", "id": "MONDO:0004973", "name": "Adenosquamous lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenosquamous cell lung carcinoma", "adenosquamous lung cancer", "adenosquamous lung carcinoma", "lung adenosquamous carcinoma"], "xref": ["DOID:4829", "EFO:0000233", "ICD9:162.9", "MEDGEN:79006", "NCIT:C9133", "ONCOTREE:LUAS", "SCTID:707405009", "UMLS:C0279557"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.", "id": "MONDO:0004974", "name": "Adrenal gland pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Intraadrenal paraganglioma", "PCC", "adrenal gland Chromaffinoma", "adrenal gland chromaffin paraganglioma", "adrenal gland paraganglioma", "adrenal gland pheochromocytoma", "adrenal medullary paraganglioma", "adrenal medullary pheochromocytoma", "adrenal pheochromocytoma", "chromaffin paraganglioma of the adrenal gland", "pheochromocytoma (adrenal)"], "xref": ["DOID:0050892", "EFO:0000239", "GARD:0024140", "ICDO:8700/0", "MEDGEN:1636437", "NANDO:2200078", "NCIT:C3326", "UMLS:C4551683"]}
{"category": ["biolink:Disease"], "description": "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.", "id": "MONDO:0004975", "name": "Alzheimer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer's dementia", "Alzheimer's disease", "Alzheimers disease", "presenile and senile dementia"], "xref": ["DOID:10652", "HP:0002511", "ICD10CM:G30", "ICD10WHO:G30", "ICD9:290.1", "ICD9:331.0", "MEDGEN:1853", "MESH:D000544", "NCIT:C2866", "Orphanet:238616", "SCTID:142811000119104", "UMLS:C0002395", "birnlex:2092", "icd11.foundation:1611724421"]}
{"category": ["biolink:Disease"], "description": "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.", "id": "MONDO:0004976", "name": "Amyotrophic lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALS", "Charcot disease", "Lou Gehrig disease", "amyotrophic lateral sclerosis"], "xref": ["DOID:332", "GARD:0005786", "HP:0007354", "ICD10CM:G12.21", "ICD9:335.20", "MEDGEN:274", "MESH:D000690", "MedDRA:10002026", "NANDO:1200002", "NCIT:C34373", "NORD:768", "Orphanet:803", "SCTID:86044005", "UMLS:C0002736", "birnlex:12566", "icd11.foundation:1982355687"]}
{"category": ["biolink:Disease"], "description": "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.", "id": "MONDO:0004977", "name": "Angioimmunoblastic t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AILD", "AILT", "T-cell lymphoma, AILD type", "angioimmunoblastic T-cell lymphoma", "angioimmunoblastic lymphadenopathy", "angioimmunoblastic lymphadenopathy type T-cell lymphoma", "angioimmunoblastic lymphadenopathy with Dysproteinemia", "immunoblastic lymphadenopathy", "lymphogranulomatosis X"], "xref": ["DOID:0111147", "EFO:0000255", "GARD:0011973", "ICD10CM:C86.5", "ICD9:202.70", "ICDO:9705/3", "ICDO:9767/1", "MEDGEN:7025", "MESH:D007119", "MedDRA:10002449", "NANDO:2200029", "NCIT:C7528", "NORD:784", "ONCOTREE:AITL", "Orphanet:86886", "SCTID:413537009", "UMLS:C0020981", "icd11.foundation:1254954229"]}
{"category": ["biolink:Disease"], "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.", "id": "MONDO:0004979", "name": "Asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2841", "HP:0002099", "ICD10CM:J45", "ICD10WHO:J45", "ICD9:493", "ICD9:493.81", "ICD9:493.9", "MEDGEN:2109", "MESH:D001249", "NCIT:C28397", "SCTID:31387002", "UMLS:C0004096", "icd11.foundation:1656445230"]}
{"category": ["biolink:Disease"], "description": "A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life.", "id": "MONDO:0004980", "name": "Atopic eczema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AD", "ATOD", "allergic form of dermatitis", "atopic dermatitis", "atopic eczema", "dermatitis, atopic", "eczema", "eczema, atopic", "eczematous dermatitis"], "xref": ["DOID:3310", "EFO:0000274", "HP:0001047", "ICD10CM:L20", "ICD9:691", "ICD9:691.8", "MEDGEN:41502", "MESH:D003876", "NCIT:C3001", "OMIM:603165", "SCTID:200775004", "SCTID:24079001", "UMLS:C0011615", "icd11.foundation:215767047"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)", "id": "MONDO:0004981", "name": "Atrial fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AF", "AFib", "atrial fibrillation", "atrial fibrillation (disease)"], "xref": ["DOID:0060224", "EFO:0000275", "HP:0005110", "ICD9:427.31", "MEDGEN:445", "MESH:D001281", "NANDO:2100051", "NANDO:2200226", "NCIT:C50466", "SCTID:49436004", "UMLS:C0004238", "icd11.foundation:171698302"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the pancreas.", "id": "MONDO:0004982", "name": "Pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of pancreas", "pancreas inflammation"], "xref": ["DOID:4989", "EFO:0000278", "MEDGEN:14586", "MESH:D010195", "NCIT:C3306", "SCTID:75694006", "UMLS:C0030305"]}
{"category": ["biolink:Disease"], "description": "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.", "id": "MONDO:0004983", "name": "Spermatogenic failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spermatogenic failure"], "xref": ["DOID:0111910", "EFO:0000279", "MEDGEN:766708", "OMIMPS:258150", "UMLS:C3553794"]}
{"category": ["biolink:Disease"], "description": "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.", "id": "MONDO:0004984", "name": "Basal-like breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal-like breast cancer", "basal-like breast carcinoma", "basal-like subtype of breast carcinoma"], "xref": ["EFO:0000281", "MEDGEN:770987", "NCIT:C53558", "UMLS:C3642347"]}
{"category": ["biolink:Disease"], "description": "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.", "id": "MONDO:0004985", "name": "Bipolar disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bipolar disorder", "major affective disorder", "manic-depression"], "xref": ["DOID:3312", "ICD10CM:F31", "ICD10WHO:F31", "ICD9:296.40", "ICD9:296.60", "ICD9:296.80", "ICD9:296.89", "MEDGEN:2649", "MESH:D001714", "NCIT:C34423", "SCTID:13746004", "UMLS:C0005586", "birnlex:12754"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the urinary bladder", "id": "MONDO:0004986", "name": "Urinary bladder carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder carcinoma", "carcinoma bladder", "carcinoma of bladder", "carcinoma of the bladder", "carcinoma of the urinary bladder", "carcinoma of urinary bladder", "urinary bladder carcinoma"], "xref": ["DOID:4007", "HP:0002862", "MEDGEN:147071", "NCIT:C4912", "SCTID:255108000", "UMLS:C0699885"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003", "id": "MONDO:0004987", "name": "Urinary bladder neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder neoplasm", "bladder tumor", "bladder tumors", "bladder tumour", "bladder tumours", "neoplasm of bladder", "neoplasm of the bladder", "neoplasm of the urinary bladder", "neoplasm of urinary bladder", "tumor of bladder", "tumor of the bladder", "tumor of the urinary bladder", "tumor of urinary bladder", "tumour of bladder", "tumour of the bladder", "tumour of the urinary bladder", "tumour of urinary bladder", "urinary bladder neoplasm", "urinary bladder neoplasm (disease)", "urinary bladder neoplasms", "urinary bladder tumor", "urinary bladder tumors", "urinary bladder tumour", "urinary bladder tumours"], "xref": ["EFO:0000294", "ICD9:239.4", "MEDGEN:594", "NCIT:C2901", "SCTID:126885006", "UMLS:C0005695"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the breast", "id": "MONDO:0004988", "name": "Breast adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of breast", "adenocarcinoma of the breast", "breast adenocarcinoma", "mammary adenocarcinoma"], "xref": ["DOID:3458", "EFO:0000304", "MEDGEN:167809", "NCIT:C5214", "UMLS:C0858252"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the breast", "id": "MONDO:0004989", "name": "Breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast carcinoma", "carcinoma of breast", "carcinoma of the breast", "mammary carcinoma"], "xref": ["DOID:3459", "EFO:0000305", "HP:0003002", "MEDGEN:146260", "NCIT:C4872", "SCTID:254838004", "UMLS:C0678222"]}
{"category": ["biolink:Disease"], "description": "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.", "id": "MONDO:0004990", "name": "Breast tumor luminal a or b", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast tumor luminal", "breast tumour luminal", "luminal breast cancer"], "xref": ["DOID:0060548", "EFO:0000306"]}
{"category": ["biolink:Disease"], "description": "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.", "id": "MONDO:0004991", "name": "Minimally invasive lung adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["BAC", "bac", "bronchioalveolar adenocarcinoma of lung", "bronchioalveolar adenocarcinoma of the lung", "bronchioalveolar lung carcinoma", "bronchiolo-alveolar carcinoma of lung", "bronchiolo-alveolar carcinoma of the lung", "bronchiolo-alveolar lung carcinoma", "bronchioloalveolar adenocarcinoma of lung", "bronchioloalveolar adenocarcinoma of the lung", "bronchioloalveolar carcinoma", "bronchioloalveolar lung adenocarcinoma", "carcinoma, bronchioloalveolar, malignant", "minimally invasive lung adenocarcinoma"], "xref": ["DOID:4926", "EFO:0000308", "GARD:0024141", "ICD9:162.9", "ICDO:8250/3", "ICDO:8251/3", "MEDGEN:2871", "MESH:D002282", "NCIT:C2923", "SCTID:373627005", "UMLS:C0007120"]}
{"category": ["biolink:Disease"], "description": "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.", "id": "MONDO:0004992", "name": "Cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CA", "cancer", "cell type cancer", "malignancy", "malignant growth", "malignant neoplasm", "malignant neoplasm (disease)", "malignant neoplastic disease", "malignant tumor", "malignant tumour", "neoplasm (disease), malignant", "neoplasm, malignant"], "xref": ["DOID:0050686", "DOID:0050687", "DOID:162", "ICD9:195.8", "ICD9:199", "ICD9:199.1", "ICDO:8000/3", "MEDGEN:14297", "NCIT:C9305", "ONCOTREE:MT", "SCTID:363346000", "UMLS:C0006826", "birnlex:406"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.", "id": "MONDO:0004993", "name": "Carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Other carcinoma", "carcinoma", "carcinoma, malignant", "epithelial carcinoma", "epithelioma malignant", "malignant epithelial neoplasm", "malignant epithelial tumor", "malignant epithelial tumour", "malignant epithelioma"], "xref": ["CSP:2000-1867", "DOID:305", "EFO:0000313", "ICDO:8010/3", "ICDO:8011/3", "MEDGEN:2867", "MESH:D002277", "NCIT:C2916", "SCTID:722688002", "UMLS:C0007097"]}
{"category": ["biolink:Disease"], "description": "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.", "id": "MONDO:0004994", "name": "Cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["Cardiomyopathies", "cardiomyopathy"], "xref": ["DOID:0050700", "EFO:0000318", "ICD10CM:I42", "ICD10WHO:I42", "ICD9:425", "ICD9:425.4", "ICD9:425.9", "MEDGEN:209232", "MESH:D009202", "MedDRA:10007636", "NCIT:C34830", "Orphanet:167848", "SCTID:85898001", "UMLS:C0878544", "icd11.foundation:282225286"]}
{"category": ["biolink:Disease"], "description": "A disease involving the cardiovascular system.", "id": "MONDO:0004995", "name": "Cardiovascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["cardiovascular disease", "cardiovascular disease (CVD)", "cardiovascular disorder", "cardiovascular system disease", "cardiovascular system disease or disorder", "disease of cardiovascular system", "disease or disorder of cardiovascular system", "disorder of cardiovascular system"], "xref": ["DOID:1287", "EFO:0000319", "ICD10CM:I00-I99", "ICD9:390-459", "ICD9:420-429", "ICD9:423", "ICD9:423.8", "ICD9:424", "ICD9:429", "ICD9:429.2", "ICD9:429.7", "ICD9:429.8", "ICD9:429.81", "ICD9:429.89", "ICD9:459.89", "ICD9:459.9", "MEDGEN:2848", "MESH:D002318", "NANDO:1100005", "NCIT:C2931", "SCTID:49601007", "UMLS:C0007222", "icd11.foundation:424293435", "icd11.foundation:426429380"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia occurring in childhood.", "id": "MONDO:0004996", "name": "Childhood acute myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acute myeloid leukaemia of childhood", "acute myeloid leukemia of childhood", "childhood AML", "childhood acute granulocytic leukaemia", "childhood acute granulocytic leukemia", "childhood acute myeloblastic leukaemia", "childhood acute myeloblastic leukemia", "childhood acute myelocytic leukaemia", "childhood acute myelocytic leukemia", "childhood acute myelogenous leukaemia", "childhood acute myelogenous leukemia", "childhood acute myeloid leukemia", "paediatric AML", "paediatric acute myeloblastic leukaemia", "paediatric acute myelocytic leukaemia", "paediatric acute myelogenous leukaemia", "pediatric AML", "pediatric acute myeloblastic leukemia", "pediatric acute myelocytic leukemia", "pediatric acute myelogenous leukemia", "pediatric acute myeloid leukemia"], "xref": ["DOID:0070323", "EFO:0000330", "GARD:0008199", "ICDO:M9861/3", "MEDGEN:65075", "NCIT:C9160", "UMLS:C0220621"]}
{"category": ["biolink:Disease"], "description": "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.", "id": "MONDO:0004997", "name": "Chondroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chondroblastoma", "chondroblastoma (disease)"], "xref": ["DOID:2649", "EFO:0000331", "GARD:0006047", "HP:0030432", "ICDO:9230/0", "MEDGEN:40270", "MESH:D002804", "NANDO:2200051", "NCIT:C2945", "ONCOTREE:CHBL", "UMLS:C0008441"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the stomach that is chronic in nature.", "id": "MONDO:0005001", "name": "Chronic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic gastritis", "chronic gastritis (disease)", "gastritis (disease), chronic"], "xref": ["EFO:0000337", "HP:0005231", "ICD9:535.4", "ICD9:535.40", "ICD9:535.41", "MEDGEN:39089", "NCIT:C26929", "SCTID:8493009", "UMLS:C0085695"]}
{"category": ["biolink:Disease"], "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.", "id": "MONDO:0005002", "name": "Chronic obstructive pulmonary disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["COLD", "COPD", "COPD, chronic obstructive pulmonary disease", "chronic obstructive airways disease", "chronic obstructive lung disease", "chronic obstructive pulmonary disease (COPD)", "chronic obstructive pulmonary disease, (COPD)", "cold", "cold (chronic obstructive lung disease)", "disease (COPD), chronic obstructive", "obstructive lung disease, chronic", "obstructive pulmonary disease (COPD), chronic", "pulmonary disease (COPD), chronic obstructive"], "xref": ["DOID:3083", "EFO:0000341", "ICD9:490-496", "ICD9:496", "MEDGEN:9818", "MESH:D029424", "NCIT:C3199", "OMIM:606963", "SCTID:13645005", "UMLS:C0024117", "icd11.foundation:133207228"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.", "id": "MONDO:0005003", "name": "Chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pancreatitis, chronic"], "xref": ["DOID:0051065", "EFO:0000342", "ICD9:577.1", "MEDGEN:101753", "MESH:D050500", "NCIT:C84637", "SCTID:235494005", "UMLS:C0149521", "icd11.foundation:1758007371"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.", "id": "MONDO:0005004", "name": "Clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma, clear cell, malignant", "clear cell adenocarcinoma", "clear cell adenocarcinoma (morphologic abnormality)", "clear cell adenocarcinoma NOS (morphologic abnormality)", "mesonephroma NOS (morphologic abnormality)", "water-clear cell adenocarcinoma (morphologic abnormality)"], "xref": ["DOID:4468", "EFO:0000348", "ICDO:8310/3", "MEDGEN:64629", "MESH:D018262", "NCIT:C3766", "UMLS:C0206681"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.", "id": "MONDO:0005005", "name": "Clear cell renal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Grawitz tumor", "Grawitz tumour", "RCC, clear cell adenocarcinoma", "clear cell adenocarcinoma of kidney", "clear cell adenocarcinoma of the kidney", "clear cell adenocarcinoma, kidney", "clear cell carcinoma of kidney", "clear cell carcinoma of the kidney", "clear cell renal cell cancer", "clear cell renal cell carcinoma", "conventional (clear cell) renal cell adenocarcinoma", "conventional (clear cell) renal cell carcinoma", "conventional renal cell carcinoma", "kidney clear cell adenocarcinoma", "kidney clear cell carcinoma", "renal cell carcinoma, clear cell adenocarcinoma", "renal clear cell adenocarcinoma", "renal clear cell carcinoma"], "xref": ["DOID:4467", "EFO:0000349", "GARD:0009574", "ICD9:189.0", "MEDGEN:76018", "NCIT:C4033", "ONCOTREE:CCRCC", "Orphanet:319276", "SCTID:254915003", "UMLS:C0279702"]}
{"category": ["biolink:Disease"], "description": "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.", "id": "MONDO:0005006", "name": "Clear cell sarcoma of kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CCSK", "childhood clear cell sarcoma of the kidney", "childhood kidney clear cell sarcoma", "childhood renal clear cell sarcoma", "clear cell sarcoma - kidney", "clear cell sarcoma of kidney", "clear cell sarcoma of the kidney", "kidney clear cell sarcoma", "paediatric kidney clear cell sarcoma", "paediatric renal clear cell sarcoma", "pediatric kidney clear cell sarcoma", "pediatric renal clear cell sarcoma", "renal clear cell sarcoma"], "xref": ["DOID:4880", "EFO:0000350", "GARD:0021905", "ICDO:8964/3", "MEDGEN:90791", "NANDO:2200044", "NCIT:C4264", "ONCOTREE:CCSK", "Orphanet:457246", "UMLS:C0334488"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.", "id": "MONDO:0005007", "name": "Colon mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colloid adenocarcinoma of colon", "colloid adenocarcinoma of the colon", "colloid colon adenocarcinoma", "colloidal adenocarcinoma of colon", "colloidal adenocarcinoma of the colon", "colloidal colon adenocarcinoma", "colon colloid adenocarcinoma", "colon colloidal adenocarcinoma", "colon mucinous adenocarcinoma", "colonic colloid adenocarcinoma", "colonic colloidal adenocarcinoma", "colonic mucinous adenocarcinoma", "mucinous adenocarcinoma of colon", "mucinous adenocarcinoma of the colon", "mucinous colon adenocarcinoma"], "xref": ["DOID:3029", "EFO:0000364", "MEDGEN:76007", "NCIT:C7966", "UMLS:C0279639"]}
{"category": ["biolink:Disease"], "description": "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.", "id": "MONDO:0005008", "name": "Colorectal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of large bowel", "adenocarcinoma of large intestine", "adenocarcinoma of the large bowel", "adenocarcinoma of the large intestine", "colorectal (colon or rectal) adenocarcinoma", "colorectal adenocarcinoma", "colorectum adenocarcinoma", "large bowel adenocarcinoma"], "xref": ["DOID:0050861", "DOID:0050913", "EFO:0000365", "MEDGEN:230816", "NCIT:C5105", "ONCOTREE:COADREAD", "SCTID:408645001", "UMLS:C1319315"]}
{"category": ["biolink:Disease"], "description": "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.", "id": "MONDO:0005009", "name": "Congestive heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CHF", "cardiac failure, congestive", "congestive heart disease", "failure, congestive heart", "heart failure, congestive"], "xref": ["DOID:6000", "EFO:0000373", "HP:0001635", "ICD9:404.01", "ICD9:404.11", "ICD9:404.13", "ICD9:428", "ICD9:428.0", "MEDGEN:9169", "NCIT:C3080", "SCTID:42343007", "UMLS:C0018802", "icd11.foundation:2136808878"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)", "id": "MONDO:0005010", "name": "Coronary artery disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CAD", "CHD (coronary heart disease)", "coronary artery disease", "coronary artery disease or disorder", "coronary disease", "coronary heart disease", "disease of coronary artery", "disease or disorder of coronary artery", "disorder of coronary artery"], "xref": ["DOID:3393", "EFO:0001645", "ICD9:410-414", "ICD9:414.0", "ICD9:414.9", "MEDGEN:365486", "MESH:D003324", "NCIT:C26732", "SCTID:414024009", "UMLS:C1956346", "icd11.foundation:1059873720"]}
{"category": ["biolink:Disease"], "description": "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.", "id": "MONDO:0005011", "name": "Crohn disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Crohn disease", "Crohn's disease", "Crohn's disease of large bowel", "paediatric Crohn's disease", "pediatric Crohn's disease", "regional enteritis"], "xref": ["DOID:8778", "EFO:0000384", "ICD10CM:K50", "ICD9:555.1", "MEDGEN:3664", "MESH:D003424", "NANDO:1200444", "NANDO:1200446", "NANDO:2200921", "NCIT:C2965", "Orphanet:206", "SCTID:7620006", "UMLS:C0010346", "icd11.foundation:1267652425"]}
{"category": ["biolink:Disease"], "description": "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.", "id": "MONDO:0005012", "name": "Cutaneous melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cutaneous (skin) melanoma", "cutaneous melanoma", "cutaneous melanoma (disease)", "malignant cutaneous melanoma", "malignant melanoma (of skin), stage unspecified", "malignant melanoma of skin", "malignant melanoma of skin stage unspecified", "melanoma (disease) of zone of skin", "melanoma of skin", "melanoma of the skin", "skin melanoma", "skin, melanoma", "zone of skin melanoma", "zone of skin melanoma (disease)"], "xref": ["DOID:8923", "EFO:0000389", "HP:0012056", "ICD10CM:C43", "ICD9:172", "ICD9:172.0", "ICD9:172.2", "ICD9:172.3", "ICD9:172.4", "ICD9:172.5", "ICD9:172.8", "ICD9:172.9", "MEDGEN:57486", "NCIT:C3510", "ONCOTREE:SKCM", "SCTID:93655004", "UMLS:C0151779"]}
{"category": ["biolink:Disease"], "description": "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.", "id": "MONDO:0005013", "name": "Dedifferentiated chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Dedifferentiated chondrosarcoma"], "xref": ["DOID:0081247", "EFO:0000394", "GARD:0024142", "ICDO:9243/3", "MEDGEN:209021", "NCIT:C6476", "ONCOTREE:DDCHS", "UMLS:C0862878"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.", "id": "MONDO:0005015", "name": "Diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DM", "diabetes", "diabetes mellitus", "diabetes mellitus (disease)"], "xref": ["DOID:9351", "EFO:0000400", "HP:0000819", "ICD10CM:E08-E13", "ICD10WHO:E10-E14", "ICD9:250", "MEDGEN:8350", "MESH:D003920", "NANDO:2100157", "NANDO:2100158", "NCIT:C2985", "SCTID:73211009", "UMLS:C0011849", "icd11.foundation:465177735"]}
{"category": ["biolink:Disease"], "description": "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.", "id": "MONDO:0005016", "name": "Diabetic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DKD", "diabetic nephropathy"], "xref": ["EFO:0000401", "ICD9:250.4", "ICD9:250.40", "ICD9:583.81", "MEDGEN:8352", "MESH:D003928", "NCIT:C84417", "SCTID:127013003", "UMLS:C0011881", "icd11.foundation:615062102"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.", "id": "MONDO:0005017", "name": "Diffuse gastric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of linitis plastica type", "adenocarcinoma of the linitis plastica type", "carcinoma, diffuse type", "carcinoma, diffuse type (morphologic abnormality)", "diffuse adenocarcinoma of stomach", "diffuse adenocarcinoma of the stomach", "diffuse gastric adenocarcinoma", "diffuse stomach adenocarcinoma", "gastric diffuse adenocarcinoma", "stomach diffuse type adenocarcinoma"], "xref": ["DOID:6217", "EFO:0000402", "GARD:0027712", "MEDGEN:79019", "NCIT:C9159", "ONCOTREE:DSTAD", "UMLS:C0279635"]}
{"category": ["biolink:Disease"], "description": "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.", "id": "MONDO:0005019", "name": "Diffuse scleroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:1580", "EFO:0000404", "GARD:0007727", "MEDGEN:219839", "MESH:D045743", "UMLS:C1258104"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the small or large intestine.", "id": "MONDO:0005020", "name": "Intestinal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of intestine", "disease or disorder of intestine", "disorder of intestine", "intestinal disease", "intestinal disorder", "intestine disease", "intestine disease or disorder"], "xref": ["DOID:5295", "EFO:0009431", "ICD9:520-579", "ICD9:560-569", "ICD9:564", "ICD9:564.4", "ICD9:569", "ICD9:569.4", "ICD9:569.49", "ICD9:569.89", "ICD9:569.9", "ICD9:570-579", "ICD9:575", "MEDGEN:7130", "MESH:D007410", "NCIT:C26801", "SCTID:85919009", "UMLS:C0021831"]}
{"category": ["biolink:Disease"], "description": "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.", "id": "MONDO:0005021", "name": "Dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dilated cardiomyopathy"], "xref": ["DOID:12930", "EFO:0000407", "GARD:0000221", "HP:0001644", "ICD10CM:I42.0", "ICD9:425.4", "MEDGEN:2880", "MESH:D002311", "MedDRA:10056370", "NANDO:2100057", "NANDO:2200232", "NCIT:C84673", "Orphanet:217604", "SCTID:195021004", "UMLS:C0007193", "icd11.foundation:1916294688"]}
{"category": ["biolink:Disease"], "description": "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.", "id": "MONDO:0005023", "name": "Ductal breast carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DCIS", "carcinoma in situ of mammary duct", "ductal breast carcinoma in situ", "ductal carcinoma in situ", "ductal carcinoma in situ (DCIS)", "ductal carcinoma in situ of breast", "ductal carcinoma in situ of the breast", "intraductal breast carcinoma", "intraductal carcinoma", "intraductal carcinoma of breast", "intraductal carcinoma of the breast", "mammary duct carcinoma in situ", "mammary duct in situ carcinoma", "non-infiltrating ductal adenocarcinoma of breast", "non-infiltrating ductal adenocarcinoma of the breast", "non-infiltrating ductal breast adenocarcinoma", "non-infiltrating ductal breast carcinoma", "non-infiltrating ductal carcinoma of breast", "non-infiltrating ductal carcinoma of the breast", "non-infiltrating intraductal adenocarcinoma", "non-infiltrating intraductal adenocarcinoma of breast", "non-infiltrating intraductal adenocarcinoma of the breast", "non-infiltrating intraductal breast adenocarcinoma", "non-infiltrating intraductal carcinoma", "non-invasive ductal adenocarcinoma of breast", "non-invasive ductal adenocarcinoma of the breast", "non-invasive ductal breast adenocarcinoma", "non-invasive ductal breast carcinoma", "non-invasive ductal carcinoma of breast", "non-invasive ductal carcinoma of the breast", "non-invasive intraductal adenocarcinoma of breast", "non-invasive intraductal adenocarcinoma of the breast", "non-invasive intraductal breast adenocarcinoma", "stage 0 mammary duct carcinoma"], "xref": ["DOID:0060074", "EFO:0000432", "ICDO:8500/2", "MEDGEN:765", "MESH:D002285", "NCIT:C2924", "ONCOTREE:DCIS", "UMLS:C0007124"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the endocardium.", "id": "MONDO:0005025", "name": "Endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endocarditis", "endocarditis (disease)", "endocardium inflammation", "inflammation of endocardium"], "xref": ["DOID:10314", "EFO:0000465", "HP:0100584", "ICD9:421.9", "ICD9:424.99", "MEDGEN:4940", "MESH:D004696", "NCIT:C34582", "SCTID:56819008", "UMLS:C0014118"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.", "id": "MONDO:0005026", "name": "Endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrioid adenocarcinoma", "endometrioid carcinoma", "endometrioid carcinoma of female reproductive system", "endometrioid carcinoma of the female reproductive system", "female reproductive endometrioid carcinoma"], "xref": ["EFO:0000466", "ICDO:8380/3", "MEDGEN:293976", "NCIT:C3769", "UMLS:C1569637"]}
{"category": ["biolink:Disease"], "description": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.", "id": "MONDO:0005027", "name": "Epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epilepsy", "seizure disorder"], "xref": ["DOID:1826", "EFO:0000474", "ICD10CM:G40", "ICD10WHO:G40", "ICD9:345", "ICD9:345.8", "ICD9:345.80", "ICD9:345.9", "ICD9:345.90", "ICD9:345.91", "MEDGEN:4506", "MESH:D004827", "NCIT:C3020", "SCTID:84757009", "UMLS:C0014544", "birnlex:12718"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.", "id": "MONDO:0005028", "name": "Esophageal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma - esophagus", "adenocarcinoma - oesophagus", "adenocarcinoma of esophagus", "adenocarcinoma of oesophagus", "adenocarcinoma of the esophagus", "adenocarcinoma of the oesophagus", "esophageal adenocarcinoma", "esophagus adenocarcinoma", "oesophageal adenocarcinoma", "oesophagus adenocarcinoma"], "xref": ["DOID:4914", "EFO:0000478", "GARD:0016927", "MEDGEN:124636", "NCIT:C4025", "ONCOTREE:ESCA", "Orphanet:99976", "SCTID:276803003", "UMLS:C0279628", "icd11.foundation:829915640"]}
{"category": ["biolink:Disease"], "description": "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)", "id": "MONDO:0005029", "name": "Essential thrombocythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["essential thrombocytemia", "essential thrombocythemia", "essential thrombocytosis", "primary thrombocythemia", "primary thrombocytosis"], "xref": ["DOID:2224", "EFO:0000479", "GARD:0006594", "ICD10CM:D47.3", "ICD9:238.71", "ICDO:9962/3", "MEDGEN:11797", "MESH:D013920", "MedDRA:10015493", "NANDO:2100194", "NANDO:2200655", "NCIT:C3407", "NORD:1110", "ONCOTREE:ET", "Orphanet:3318", "SCTID:109994006", "UMLS:C0040028"]}
{"category": ["biolink:Disease"], "description": "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.", "id": "MONDO:0005030", "name": "Fetal growth restriction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IUGR", "fetal Growth retardation", "fetal SGA", "fetal growth retardation", "fetal small for gestational Age", "fetus small for gestational Age", "foetal Growth retardation", "foetal SGA", "foetal growth retardation", "foetal small for gestational Age", "foetus small for gestational Age", "intrauterine Growth restriction", "intrauterine Growth retardation"], "xref": ["EFO:0000495", "ICD9:764.9", "ICD9:764.90", "ICD9:764.91", "ICD9:764.92", "ICD9:764.93", "ICD9:764.94", "ICD9:764.95", "ICD9:764.96", "ICD9:764.97", "ICD9:764.98", "ICD9:764.99", "MEDGEN:4693", "MESH:D005317", "NCIT:C114875", "SCTID:22033007", "UMLS:C0015934"]}
{"category": ["biolink:Disease"], "description": "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.", "id": "MONDO:0005031", "name": "Fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibromatosis"], "xref": ["EFO:0000497", "MEDGEN:8836", "NCIT:C3042", "SCTID:723976005", "UMLS:C0016048"]}
{"category": ["biolink:Disease"], "description": "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.", "id": "MONDO:0005032", "name": "Follicular thyroid adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoma of the thyroid", "adenoma of the thyroid gland", "adenoma of thyroid", "adenoma of thyroid gland", "adenoma, follicular cell, benign", "follicular adenoma", "follicular adenoma (morphologic abnormality)", "follicular adenoma of the thyroid", "follicular adenoma of the thyroid gland", "follicular adenoma of thyroid", "follicular adenoma of thyroid gland", "follicular thyroid adenoma", "thyroid adenoma", "thyroid adenoma (disease)", "thyroid follicle adenoma", "thyroid follicular adenoma", "thyroid gland adenoma", "thyroid gland follicular adenoma"], "xref": ["DOID:2891", "DOID:6204", "EFO:0000499", "GARD:0024143", "HP:0000854", "ICDO:8330/0", "NCIT:C3502", "SCTID:255033000", "SCTID:255034006"]}
{"category": ["biolink:Disease"], "description": "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.", "id": "MONDO:0005033", "name": "Ganglioneuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ganglioneuroma", "ganglioneuroma (Schwannian Stroma-dominant)", "ganglioneuroma (disease)", "ganglioneuroma, benign", "neural Crest tumor, benign"], "xref": ["DOID:4817", "EFO:0000500", "GARD:0020731", "HP:0003005", "ICD9:215.9", "ICDO:9490/0", "MEDGEN:6545", "MedDRA:10017709", "NCIT:C3049", "ONCOTREE:GN", "Orphanet:251992", "SCTID:116371000119107", "UMLS:C0017075", "birnlex:12617"]}
{"category": ["biolink:Disease"], "description": "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.", "id": "MONDO:0005034", "name": "Thyroid gland follicular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of thyroid follicle", "carcinoma, follicular cell, malignant", "follicular carcinoma", "follicular carcinoma of the thyroid", "follicular carcinoma of the thyroid gland", "follicular carcinoma of thyroid", "follicular carcinoma of thyroid gland", "follicular thyroid cancer", "follicular thyroid carcinoma", "follicular thyroid gland carcinoma", "thyroid follicle carcinoma", "thyroid follicular carcinoma", "thyroid gland follicular carcinoma", "well-differentiated follicular adenocarcinoma"], "xref": ["DOID:3962", "EFO:0000501", "GARD:0024144", "HP:0006731", "ICDO:8330/3", "ICDO:8331/3", "MEDGEN:64630", "MESH:D018263", "NCIT:C8054", "ONCOTREE:THFO", "SCTID:255028004", "UMLS:C0206682"]}
{"category": ["biolink:Disease"], "description": "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.", "id": "MONDO:0005035", "name": "Ganglioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ganglioneuroblastoma", "ganglioneuroblastoma (disease)", "ganglioneuroblastoma (morphologic abnormality)", "ganglioneuroblastoma, malignant"], "xref": ["DOID:4163", "EFO:0000502", "GARD:0020719", "HP:0006747", "ICD9:171.9", "ICDO:9490/3", "MEDGEN:60218", "MESH:D018305", "MedDRA:10017708", "NANDO:2200041", "NCIT:C3790", "ONCOTREE:GNBL", "Orphanet:251877", "SCTID:116381000119105", "UMLS:C0206718", "birnlex:12633"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the stomach", "id": "MONDO:0005036", "name": "Gastric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma - stomach", "adenocarcinoma of stomach", "adenocarcinoma of the stomach", "gastric (stomach) adenocarcinoma", "gastric adenocarcinoma", "stomach adenocarcinoma"], "xref": ["DOID:3717", "EFO:0000503", "GARD:0027713", "MEDGEN:82961", "NCIT:C4004", "ONCOTREE:STAD", "Orphanet:464463", "SCTID:408647009", "UMLS:C0278701", "icd11.foundation:1855471719"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.", "id": "MONDO:0005037", "name": "Gastric intestinal type adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric intestinal type adenocarcinoma", "gastric intestinal-type adenocarcinoma", "intestinal adenocarcinoma of stomach", "intestinal adenocarcinoma of the stomach", "intestinal gastric adenocarcinoma", "intestinal stomach adenocarcinoma"], "xref": ["EFO:0000504", "GARD:0027714", "MEDGEN:79017", "NCIT:C9157", "ONCOTREE:ISTAD", "UMLS:C0279633"]}
{"category": ["biolink:Disease"], "description": "A disease involving the reproductive system.", "id": "MONDO:0005039", "name": "Reproductive system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of reproductive system", "disease or disorder of reproductive system", "disorder of reproductive system", "genital disorders", "reproductive disease", "reproductive system disease", "reproductive system disease or disorder", "reproductive system disorder"], "xref": ["DOID:15", "EFO:0000512", "MEDGEN:61253", "NCIT:C4875", "SCTID:362968007", "UMLS:C0178829", "Wikipedia:Reproductive_system_disease"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.", "id": "MONDO:0005040", "name": "Germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["germ cell neoplasm", "germ cell tumor", "neoplasm of germ cell", "neoplasm of the germ cell", "tumor of germ cell", "tumor of the germ cell", "tumour of germ cell", "tumour of the germ cell"], "xref": ["DOID:2994", "EFO:0000514", "GARD:0013022", "MEDGEN:60030", "NCIT:C3708", "UMLS:C0205851"]}
{"category": ["biolink:Disease"], "description": "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.", "id": "MONDO:0005041", "name": "Glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glaucoma", "glaucoma (disease)"], "xref": ["DOID:1686", "HP:0000501", "ICD10CM:H40", "ICD10CM:H40-H42", "ICD10WHO:H40", "ICD10WHO:H40-H42", "ICD9:365", "ICD9:365.89", "ICD9:365.9", "MEDGEN:42224", "MESH:D005901", "NCIT:C26782", "SCTID:23986001", "UMLS:C0017601", "icd11.foundation:499924848"]}
{"category": ["biolink:Disease"], "description": "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.", "id": "MONDO:0005043", "name": "Hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperplasia", "hyperplastic"], "xref": ["EFO:0000536", "MEDGEN:43784", "MESH:D006965", "NCIT:C3113", "UMLS:C0020507"]}
{"category": ["biolink:Disease"], "description": "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.", "id": "MONDO:0005044", "name": "Hypertensive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blood pressure, high", "blood pressure, increased", "high blood pressure", "hypertensive disease", "increased blood pressure", "pressure, high blood", "vascular hypertensive disorder"], "xref": ["DOID:10763", "EFO:0000537", "HP:0000822", "ICD10CM:I10-I16", "ICD10CM:I15", "ICD9:401-405", "ICD9:997.91", "MEDGEN:6969", "MESH:D006973", "NCIT:C3117", "SCTID:38341003", "UMLS:C0020538"]}
{"category": ["biolink:Disease"], "description": "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.", "id": "MONDO:0005045", "name": "Hypertrophic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hypertrophic cardiomyopathy", "hypertrophic subaortic stenosis", "obstructive hypertrophic cardiomyopathy"], "xref": ["DOID:11984", "EFO:0000538", "HP:0001639", "ICD10CM:I42.1", "ICD10CM:I42.2", "ICD9:425.1", "ICD9:425.11", "ICD9:425.4", "MEDGEN:2881", "MESH:D002312", "MedDRA:10020871", "NANDO:1200286", "NANDO:1200288", "NANDO:2100054", "NANDO:2200229", "NANDO:2201042", "NCIT:C34449", "Orphanet:217569", "SCTID:233873004", "UMLS:C0007194", "icd11.foundation:1830681485"]}
{"category": ["biolink:Disease"], "description": "A disorder resulting from an abnormality in the immune system.", "id": "MONDO:0005046", "name": "Immune system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of immune system", "disease or disorder of immune system", "disorder of immune system", "immune disease", "immune disorder", "immune dysfunction", "immune system disease or disorder", "immune system disorder"], "xref": ["DOID:2914", "EFO:0000540", "ICD9:279", "ICD9:279.1", "ICD9:279.10", "ICD9:279.19", "ICD9:279.4", "ICD9:279.49", "ICD9:279.8", "ICD9:279.9", "MEDGEN:5759", "MESH:D007154", "NANDO:1100004", "NANDO:2100202", "NCIT:C3507", "SCTID:414029004", "UMLS:C0021053"]}
{"category": ["biolink:Disease"], "description": "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.", "id": "MONDO:0005047", "name": "Infertility disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sterile", "fertility disorders", "infertile", "sterile", "sterility"], "xref": ["DOID:5223", "EFO:0000545", "MEDGEN:43876", "MESH:D007246", "NCIT:C3836", "UMLS:C0021359"]}
{"category": ["biolink:Disease"], "description": "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.", "id": "MONDO:0005048", "name": "Pancreatic insulin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beta cell tumor", "Beta cell tumor of pancreas", "Beta cell tumor of the pancreas", "Beta cell tumour", "Beta cell tumour of pancreas", "Beta cell tumour of the pancreas", "beta cell neoplasm", "beta cell tumor of the pancreas", "beta cell tumour of the pancreas", "insulin-producing islet cell tumor", "insulin-producing islet cell tumour", "insulin-producing tumor of islet cells", "insulin-producing tumor of the islet cells", "insulin-producing tumour of islet cells", "insulin-producing tumour of the islet cells", "pancreatic Beta cell tumor", "pancreatic Beta cell tumour", "pancreatic insulin producing NET", "pancreatic insulin producing neoplasm", "pancreatic insulin producing tumor", "pancreatic insulin producing tumour", "pancreatic insulin-producing neuroendocrine tumor", "pancreatic insulin-producing tumor", "pancreatic insulin-producing tumour"], "xref": ["EFO:0000549", "GARD:0003010", "ICDO:8151/0", "ICDO:8151/1", "MEDGEN:1844884", "NCIT:C3140", "Orphanet:97279", "UMLS:C5848150"]}
{"category": ["biolink:Disease"], "description": "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.", "id": "MONDO:0005050", "name": "Invasive ductal and lobular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infiltrating ductal and lobular carcinoma", "invasive duct and lobular carcinoma", "invasive ductal and lobular carcinoma"], "xref": ["EFO:0000552", "ICDO:8522/3", "MEDGEN:235231", "NCIT:C7688", "UMLS:C1334277"]}
{"category": ["biolink:Disease"], "description": "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.", "id": "MONDO:0005051", "name": "Invasive lobular breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["classic invasive lobular carcinoma", "infiltrating lobular adenocarcinoma", "infiltrating lobular breast carcinoma", "infiltrating lobular carcinoma of breast", "infiltrating lobular carcinoma of the breast", "invasive lobular adenocarcinoma", "invasive lobular breast carcinoma", "invasive lobular carcinoma", "invasive lobular carcinoma of breast", "invasive lobular carcinoma of the breast", "invasive lobular carcinoma, classic type"], "xref": ["DOID:3457", "EFO:0000553", "MEDGEN:75994", "NCIT:C7950", "ONCOTREE:ILC", "UMLS:C0279565"]}
{"category": ["biolink:Disease"], "description": "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two).", "id": "MONDO:0005052", "name": "Irritable bowel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IBS", "irritable bowel syndrome", "irritable colon", "mucus colitis", "spastic colon"], "xref": ["DOID:9778", "EFO:0000555", "ICD10CM:K58", "ICD10WHO:K58", "ICD9:564.1", "MEDGEN:5897", "MESH:D043183", "NCIT:C82343", "SCTID:10743008", "UMLS:C0022104", "icd11.foundation:1158238623"]}
{"category": ["biolink:Disease"], "description": "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.", "id": "MONDO:0005053", "name": "Ischemic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:326", "MEDGEN:5899", "MESH:D007511", "NCIT:C34738", "SCTID:52674009", "UMLS:C0022116"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).", "id": "MONDO:0005055", "name": "Kaposi's sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KS", "Kaposi sarcoma", "Kaposi's sarcoma", "Kaposi's sarcoma (disease)"], "xref": ["DOID:8632", "EFO:0000558", "GARD:0006814", "HP:0100726", "ICD10CM:C46", "ICD9:176", "ICD9:176.8", "ICD9:176.9", "ICDO:9140/3", "MEDGEN:11321", "MESH:D012514", "MedDRA:10023284", "NCIT:C9087", "Orphanet:33276", "SCTID:109385007", "UMLS:C0036220"]}
{"category": ["biolink:Disease"], "description": "Squamous cell carcinomas with morphologically prominent production of keratin.", "id": "MONDO:0005056", "name": "Keratinizing squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["keratinizing squamous cell carcinoma", "squamous cell carcinoma, keratinizing (morphologic abnormality)"], "xref": ["DOID:5521", "EFO:0000559", "ICDO:8071/3", "MEDGEN:137730", "NCIT:C4105", "UMLS:C0334247"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.", "id": "MONDO:0005057", "name": "Large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCNEC", "large cell NEC", "large cell neuroendocrine carcinoma", "large-cell neuroendocrine carcinoma"], "xref": ["DOID:0050872", "EFO:0000563", "GARD:0024145", "ICDO:8013/3", "MEDGEN:220402", "NCIT:C6875", "ONCOTREE:LUNE", "UMLS:C1265996", "icd11.foundation:1278312485"]}
{"category": ["biolink:Disease"], "description": "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.", "id": "MONDO:0005058", "name": "Leiomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leiomyosarcomas", "leiomyosarcoma", "leiomyosarcoma (excluding uterine leiomyosarcoma)", "leiomyosarcoma - not uterine", "leiomyosarcoma, malignant"], "xref": ["DOID:1967", "EFO:0000564", "GARD:0006880", "ICD9:171.9", "ICDO:8890/3", "MEDGEN:9711", "MESH:D007890", "MedDRA:10024189", "NANDO:2200064", "NCIT:C3158", "NORD:1356", "ONCOTREE:LMS", "Orphanet:64720", "SCTID:443719001", "UMLS:C0023269"]}
{"category": ["biolink:Disease"], "description": "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.", "id": "MONDO:0005059", "name": "Leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["blood (leukemia)", "leukaemia (disease)", "leukemia", "leukemia (disease)", "leukemia, disease", "leukemia, malignant", "leukemias", "leukemias, general"], "xref": ["DOID:1240", "EFO:0000565", "HP:0001909", "ICD9:207", "ICD9:207.8", "ICD9:207.80", "ICD9:208", "ICD9:208.8", "ICD9:208.80", "ICD9:208.9", "ICD9:208.90", "ICDO:9800/3", "MEDGEN:9725", "MESH:D007938", "NANDO:2100002", "NCIT:C3161", "SCTID:93143009", "UMLS:C0023418"]}
{"category": ["biolink:Disease"], "description": "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.", "id": "MONDO:0005060", "name": "Liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lip sarcoma", "liposarcoma", "liposarcoma, malignant", "sarcoma of lip"], "xref": ["DOID:3382", "EFO:0000569", "GARD:0006913", "ICD9:171.9", "ICDO:8850/3", "MEDGEN:44177", "MESH:D008080", "MedDRA:10024627", "NANDO:2200065", "NCIT:C3194", "NORD:1925", "ONCOTREE:LIPO", "Orphanet:69078", "SCTID:254829001", "UMLS:C0023827"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.", "id": "MONDO:0005061", "name": "Lung adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of lung", "adenocarcinoma of the lung", "lung adenocarcinoma", "non-small cell lung adenocarcinoma"], "xref": ["DOID:3910", "EFO:0000571", "MEDGEN:57744", "MESH:C538231", "NCIT:C3512", "ONCOTREE:LUAD", "Orphanet:415268", "SCTID:254626006", "UMLS:C0152013"]}
{"category": ["biolink:Disease"], "description": "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.", "id": "MONDO:0005062", "name": "Lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["lymphoma", "lymphoma (Hodgkin and non-Hodgkin)", "lymphoma (Hodgkin's and non-Hodgkin's)", "lymphoma, malignant", "lymphomatous", "malignant lymphoma"], "xref": ["DOID:0060058", "EFO:0000574", "ICD9:200.0", "ICD9:200.1", "ICD9:202.80", "ICDO:9590/3", "MEDGEN:44223", "MESH:D008223", "MedDRA:10025310", "NANDO:2100004", "NCIT:C3208", "ONCOTREE:MLYM", "Orphanet:223735", "SCTID:118600007", "UMLS:C0024299"]}
{"category": ["biolink:Disease"], "description": "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.", "id": "MONDO:0005063", "name": "Medullary breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infiltrating medullary carcinoma of breast", "infiltrating medullary carcinoma of the breast", "invasive medullary breast carcinoma", "invasive medullary carcinoma of breast", "invasive medullary carcinoma of the breast", "medullary breast cancer", "medullary breast carcinoma", "medullary breast carcinoma with lymphoid Stroma", "medullary carcinoma of breast", "medullary carcinoma of the breast"], "xref": ["DOID:5605", "EFO:0000580", "ICDO:8512/3", "MEDGEN:163568", "NCIT:C9119", "UMLS:C0860580"]}
{"category": ["biolink:Disease"], "description": "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.", "id": "MONDO:0005065", "name": "Mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesothelioma"], "xref": ["EFO:0000588", "ICD10CM:C45", "MEDGEN:9975", "MESH:D008654", "NCIT:C3234", "UMLS:C0025500"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.", "id": "MONDO:0005066", "name": "Metabolic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disorder of metabolic process", "metabolic disease", "metabolic disorder", "metabolic process disease"], "xref": ["DOID:0014667", "EFO:0000589", "ICD10CM:E70-E88", "ICD10WHO:E70-E90", "ICD9:277.8", "ICD9:277.9", "MEDGEN:44376", "MESH:D008659", "NANDO:1100002", "NCIT:C3235", "SCTID:75934005", "UMLS:C0025517"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.", "id": "MONDO:0005067", "name": "Monophasic synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["monophasic sarcoma of synovium", "monophasic sarcoma of the synovium", "monophasic synovial sarcoma"], "xref": ["DOID:5495", "EFO:0000595", "GARD:0024147", "MEDGEN:233719", "NCIT:C6534", "UMLS:C1334801"]}
{"category": ["biolink:Disease"], "description": "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.", "id": "MONDO:0005068", "name": "Myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MI", "MI, myocardial infarction", "heart attack", "infarction (MI), myocardial", "myocardial infarct", "myocardial infarction", "myocardial infarction (disease)", "myocardial infarction, (MI)"], "xref": ["DOID:5844", "EFO:0000612", "HP:0001658", "ICD10CM:I21", "MEDGEN:10150", "MESH:D009203", "NANDO:2200248", "NCIT:C27996", "SCTID:22298006", "UMLS:C0027051"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.", "id": "MONDO:0005070", "name": "Neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of cellular proliferation", "neoplasia", "neoplasm", "neoplasm (disease)", "neoplastic disease", "neoplastic growth", "tumor", "tumor disease", "tumour", "tumour disease"], "xref": ["DOID:14566", "EFO:0000616", "HP:0002664", "ICD10CM:C00-D49", "ICD10CM:C7A-C7A", "ICD10CM:C7B-C7B", "ICD9:140-239", "ICD9:239.8", "ICD9:239.9", "MEDGEN:10294", "MESH:D009369", "NCIT:C3262", "ONCOTREE:OTHER", "SCTID:55342001", "UMLS:C0027651"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.", "id": "MONDO:0005071", "name": "Nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of nervous system", "disease or disorder of nervous system", "disorder of nervous system", "nervous system disease", "nervous system disease or disorder", "nervous system disorder", "neurologic disease", "neurologic disorder", "neurological disease", "neurological disorder"], "xref": ["DOID:863", "EFO:0000618", "ICD10CM:G00-G99", "ICD9:349.89", "ICD9:349.9", "MEDGEN:14336", "MESH:D009422", "NCIT:C26835", "SCTID:118940003", "UMLS:C0027765", "Wikipedia:Nervous_system_disease"]}
{"category": ["biolink:Disease"], "description": "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.", "id": "MONDO:0005072", "name": "Neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neural Crest tumor, malignant", "neuroblastoma", "neuroblastoma (Schwannian Stroma-poor)", "neuroblastoma, malignant"], "xref": ["DOID:769", "EFO:0000621", "GARD:0007185", "ICDO:9500/3", "MEDGEN:18012", "MESH:D009447", "MedDRA:10029260", "NANDO:2200040", "NCIT:C3270", "ONCOTREE:NBL", "Orphanet:635", "SCTID:432328008", "UMLS:C0027819", "birnlex:12631"]}
{"category": ["biolink:Disease"], "description": "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.", "id": "MONDO:0005073", "name": "Melanocytic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["melanocytic Nevus", "melanotic Nevus", "mole", "mole of skin", "nevus"], "xref": ["EFO:0009675", "MEDGEN:14364", "MESH:D009506", "NCIT:C7570", "SCTID:400096001", "UMLS:C0027962", "Wikipedia:Nevus"]}
{"category": ["biolink:Disease"], "description": "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.", "id": "MONDO:0005074", "name": "Papillary cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystadenocarcinoma, papillary, malignant", "papillary cystadenocarcinoma", "papillary cystadenocarcinoma (morphologic abnormality)", "papillary cystadenocarcinoma, NOS (morphologic abnormality)"], "xref": ["DOID:3110", "EFO:0000639", "ICDO:8450/3", "MEDGEN:64635", "MESH:D018283", "NCIT:C3777", "UMLS:C0206700"]}
{"category": ["biolink:Disease"], "description": "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.", "id": "MONDO:0005075", "name": "Thyroid gland papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["papillary cancer of the thyroid", "papillary cancer of the thyroid gland", "papillary cancer of thyroid", "papillary cancer of thyroid gland", "papillary carcinoma of the thyroid", "papillary carcinoma of the thyroid gland", "papillary carcinoma of thyroid", "papillary carcinoma of thyroid gland", "papillary thyroid cancer", "papillary thyroid carcinoma", "papillary thyroid gland carcinoma", "thyroid gland papillary cancer", "thyroid gland papillary carcinoma", "thyroid papillary carcinoma"], "xref": ["DOID:3969", "EFO:0000641", "GARD:0024148", "HP:0002895", "MEDGEN:66773", "NCIT:C4035", "ONCOTREE:THPA", "SCTID:255029007", "UMLS:C0238463"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.", "id": "MONDO:0005076", "name": "Periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of periodontium", "periodontium inflammation"], "xref": ["DOID:824", "DOID:9893", "EFO:0000649", "ICD10CM:K05.4", "ICD9:523.5", "MEDGEN:45815", "MESH:D010518", "NCIT:C34918", "SCTID:41565005", "UMLS:C0031099"]}
{"category": ["biolink:Disease"], "description": "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.", "id": "MONDO:0005077", "name": "Pertussis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bordetella pertussis caused disease or disorder", "Bordetella pertussis disease or disorder", "Bordetella pertussis infection", "Bordetella pertussis infectious disease", "pertussis", "whooping cough"], "xref": ["DOID:1116", "EFO:0000650", "GARD:0008692", "ICD9:033", "ICD9:033.0", "ICD9:033.9", "MEDGEN:12159", "MESH:D014917", "MedDRA:10034738", "MedDRA:10047974", "NCIT:C85231", "NORD:1569", "Orphanet:1489", "SCTID:27836007", "UMLS:C0043167"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.", "id": "MONDO:0005078", "name": "Phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CSP", "cystosarcoma phyllodes", "phyllodes neoplasm", "phyllodes tumor"], "xref": ["EFO:0000653", "MEDGEN:1209", "MESH:D003557", "NCIT:C2977", "UMLS:C0010701"]}
{"category": ["biolink:Disease"], "description": "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.", "id": "MONDO:0005079", "name": "Polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyp"], "xref": ["EFO:0000662", "ICD10CM:N84", "MEDGEN:19397", "MESH:D011127", "NCIT:C3340", "SCTID:441456002", "UMLS:C0032584"]}
{"category": ["biolink:Disease"], "description": "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.", "id": "MONDO:0005080", "name": "Portal hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10762", "EFO:0000666", "ICD10CM:K76.6", "ICD9:572.3", "MEDGEN:9375", "MESH:D006975", "NCIT:C3119", "SCTID:34742003", "UMLS:C0020541", "icd11.foundation:1506184775"]}
{"category": ["biolink:Disease"], "description": "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.", "id": "MONDO:0005081", "name": "Preeclampsia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pre-eclampsia", "pre-eclamptic toxaemia", "pre-eclamptic toxemia", "preeclampsia", "preeclampsia/eclampsia", "pregnancy toxaemia", "proteinuric hypertension of pregnancy"], "xref": ["DOID:10591", "EFO:0000668", "GARD:0012924", "ICD10CM:O14", "ICD9:642.40", "ICD9:642.41", "ICD9:642.42", "ICD9:642.43", "ICD9:642.44", "MEDGEN:18608", "MESH:D011225", "MedDRA:10036485", "NCIT:C85021", "OMIMPS:189800", "Orphanet:275555", "SCTID:398254007", "UMLS:C0032914", "icd11.foundation:229121159"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the prostate gland", "id": "MONDO:0005082", "name": "Prostate adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of prostate", "adenocarcinoma of the prostate", "prostate adenocarcinoma", "prostate gland adenocarcinoma"], "xref": ["DOID:2526", "EFO:0000673", "MEDGEN:764", "NCIT:C2919", "ONCOTREE:PRAD", "SCTID:399490008", "UMLS:C0007112"]}
{"category": ["biolink:Disease"], "description": "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.", "id": "MONDO:0005083", "name": "Psoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8893", "EFO:0000676", "ICD10CM:L40", "ICD10WHO:L40", "ICD9:696", "ICD9:696.1", "ICD9:696.5", "ICD9:696.8", "MEDGEN:10997", "MESH:D011565", "NCIT:C3346", "OMIMPS:177900", "SCTID:9014002", "UMLS:C0033860", "icd11.foundation:63698555"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of mental process.", "id": "MONDO:0005084", "name": "Mental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of mental process", "mental or behavioral disorder", "mental or behavioural disorder", "mental process disease"], "xref": ["EFO:0000677", "ICD9:290-299", "ICD9:298.8", "ICD9:V11.9", "MEDGEN:14047", "SCTID:74732009", "UMLS:C0004936", "birnlex:12669"]}
{"category": ["biolink:Disease"], "description": "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.", "id": "MONDO:0005085", "name": "Pterygium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pterygium of conjunctiva and cornea"], "xref": ["DOID:0002116", "EFO:0000678", "ICD10CM:H11.0", "ICD9:372.4", "ICD9:372.40", "MEDGEN:46202", "MESH:D011625", "NCIT:C133744", "SCTID:77489003", "UMLS:C0033999", "icd11.foundation:1207385905"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the kidney", "id": "MONDO:0005086", "name": "Renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["RCC", "renal cell carcinoma", "renal cell carcinoma (disease)"], "xref": ["DOID:4450", "EFO:0000681", "GARD:0013215", "HP:0005584", "ICD9:189.0", "MEDGEN:766", "MESH:D002292", "MedDRA:10067946", "NANDO:2200045", "NORD:1657", "ONCOTREE:RCC", "Orphanet:217071", "SCTID:702391001", "UMLS:C0007134"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.", "id": "MONDO:0005087", "name": "Respiratory system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of respiratory system", "disease or disorder of respiratory system", "disorder of respiratory system", "respiratory disease", "respiratory disorder", "respiratory system disease", "respiratory system disease or disorder", "respiratory system disorder"], "xref": ["DOID:1579", "EFO:0000684", "ICD10CM:J00-J99", "ICD9:460-519", "ICD9:500-508", "ICD9:503", "ICD9:508", "ICD9:508.1", "ICD9:508.8", "ICD9:508.9", "ICD9:510-519", "ICD9:516", "ICD9:516.8", "ICD9:516.9", "ICD9:517", "ICD9:517.8", "ICD9:519", "ICD9:519.1", "ICD9:519.3", "ICD9:519.8", "ICD9:519.9", "ICD9:V12.60", "ICD9:V47.2", "MEDGEN:48421", "MESH:D012140", "NANDO:1100010", "NCIT:C26871", "SCTID:50043002", "UMLS:C0035204"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.", "id": "MONDO:0005089", "name": "Sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesenchymal tumor, malignant", "sarcoma", "sarcoma of soft tissue and bone", "sarcoma of the soft tissue and bone", "sarcoma, malignant"], "xref": ["DOID:1115", "EFO:0000691", "ICD9:171", "ICD9:171.0", "ICD9:171.2", "ICD9:171.3", "ICD9:171.4", "ICD9:171.5", "ICD9:171.6", "ICD9:171.7", "ICD9:171.8", "ICD9:171.9", "ICDO:8800/3", "MEDGEN:224714", "MESH:D012509", "NCIT:C9118", "SCTID:424413001", "UMLS:C1261473"]}
{"category": ["biolink:Disease"], "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.", "id": "MONDO:0005090", "name": "Schizophrenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["schizophrenia", "schizophrenia (disease)"], "xref": ["DOID:5419", "HP:0100753", "ICD10CM:F20", "ICD10WHO:F20", "ICD9:295", "ICD9:295.8", "ICD9:295.80", "ICD9:295.85", "ICD9:295.9", "ICD9:295.90", "MEDGEN:48574", "NCIT:C3362", "OMIM:181500", "Orphanet:3140", "SCTID:58214004", "UMLS:C0036341", "birnlex:2104", "icd11.foundation:1683919430"]}
{"category": ["biolink:Disease"], "description": "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.", "id": "MONDO:0005091", "name": "Severe acute respiratory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SARS", "SARS coronavirus caused disease or disorder", "SARS coronavirus disease or disorder", "SARS coronavirus infectious disease", "acute respiratory coronavirus infection"], "xref": ["DOID:2945", "EFO:0000694", "GARD:0009237", "ICD9:079.82", "MEDGEN:262817", "MESH:D045169", "MedDRA:10061982", "NCIT:C85064", "Orphanet:140896", "SCTID:398447004", "UMLS:C1175175", "icd11.foundation:652944603"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.", "id": "MONDO:0005092", "name": "Signet ring cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["signet ring carcinoma NOS (morphologic abnormality)", "signet ring cell adenocarcinoma", "signet ring cell carcinoma", "signet ring cell carcinoma (morphologic abnormality)"], "xref": ["DOID:3493", "EFO:0000698", "ICDO:8490/3", "MEDGEN:61663", "MESH:D018279", "NCIT:C3774", "UMLS:C0206696"]}
{"category": ["biolink:Disease"], "description": "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.", "id": "MONDO:0005093", "name": "Skin disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["cutaneous disorder", "disease of zone of skin", "disease or disorder of zone of skin", "disorder of skin", "disorder of zone of skin", "skin diseases and manifestations", "skin disorder", "zone of skin disease", "zone of skin disease or disorder"], "xref": ["DOID:37", "EFO:0000701", "ICD9:702", "ICD9:702.8", "ICD9:709.8", "MEDGEN:20777", "MESH:D012871", "NANDO:2100281", "NCIT:C3371", "SCTID:95320005", "UMLS:C0037274"]}
{"category": ["biolink:Disease"], "description": "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.", "id": "MONDO:0005094", "name": "Hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["haemangiopericytic meningioma [obs]", "hemangiopericytoma"], "xref": ["DOID:264", "ICDO:9150/1", "MEDGEN:5478", "MESH:D006393", "NCIT:C3087", "SCTID:134335004", "UMLS:C0018922"]}
{"category": ["biolink:Disease"], "description": "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.", "id": "MONDO:0005095", "name": "Spondyloarthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["seronegative spondyloarthropathy", "spondyloarthritis"], "xref": ["DOID:1123", "EFO:0000706", "MEDGEN:181888", "NCIT:C116778", "UMLS:C0949691"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.", "id": "MONDO:0005096", "name": "Squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma, squamous cell, malignant", "epidermoid carcinoma", "epidermoid cell cancer", "malignant epidermoid cell neoplasm", "malignant epidermoid cell tumor", "malignant epidermoid cell tumour", "malignant squamous cell neoplasm", "malignant squamous cell tumor", "malignant squamous cell tumour", "squamous carcinoma", "squamous cell cancer", "squamous cell carcinoma", "squamous cell carcinoma (morphologic abnormality)", "squamous cell carcinoma NOS (morphologic abnormality)", "squamous cell epithelioma"], "xref": ["DOID:1749", "EFO:0000707", "ICDO:8070/3", "MEDGEN:2874", "MESH:D002294", "NCIT:C2929", "SCTID:402815007", "UMLS:C0007137"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.", "id": "MONDO:0005097", "name": "Squamous cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidermoid cell carcinoma of lung", "epidermoid cell carcinoma of the lung", "epidermoid cell lung carcinoma", "lung squamous cell carcinoma", "squamous cell carcinoma of lung", "squamous cell carcinoma of the lung", "squamous cell lung cancer", "squamous cell lung carcinoma"], "xref": ["DOID:3907", "EFO:0000708", "ICD9:162.9", "MEDGEN:56202", "NCIT:C3493", "ONCOTREE:LUSC", "SCTID:254634000", "UMLS:C0149782"]}
{"category": ["biolink:Disease"], "description": "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.", "id": "MONDO:0005098", "name": "Stroke disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CVA", "CVA, cerebrovascular accident", "cerebrovascular accident", "cerebrovascular accident, (CVA)", "stroke", "stroke syndrome", "syndrome, stroke", "undetermined stroke"], "xref": ["DOID:0051061", "EFO:0000712", "HP:0001297", "MEDGEN:52522", "MESH:D020521", "NCIT:C3390", "SCTID:230690007", "UMLS:C0038454", "birnlex:12783"]}
{"category": ["biolink:Disease"], "description": "A serious neurological disorder characterized by intracranial hemorrhage into the subarachnoid space.", "id": "MONDO:0005099", "name": "Subarachnoid hemorrhage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["subarachnoid haemorrhage (disease)", "subarachnoid hemorrhage", "subarachnoid hemorrhage (disease)"], "xref": ["EFO:0000713", "HP:0002138", "ICD9:430", "MEDGEN:11625", "MESH:D013345", "SCTID:21454007", "UMLS:C0038525", "icd11.foundation:1363253283"]}
{"category": ["biolink:Disease"], "description": "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.", "id": "MONDO:0005100", "name": "Systemic sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SSc", "Scleroderma, systemic", "Systemic Scleroderma", "systemic Scleroderma", "systemic scleroderma", "systemic sclerosis"], "xref": ["DOID:418", "EFO:0000717", "GARD:0009748", "ICD10CM:M34", "ICD10WHO:M34", "ICD9:710.1", "MEDGEN:19897", "MESH:D012595", "MedDRA:10042953", "NANDO:1200277", "NANDO:2200429", "NCIT:C72070", "NORD:2007", "Orphanet:90291", "SCTID:89155008", "UMLS:C0036421", "icd11.foundation:1084365812"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.", "id": "MONDO:0005101", "name": "Ulcerative colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colitis ulcerative", "ulcerative colitis", "ulcerative colitis (disease)"], "xref": ["DOID:8577", "EFO:0000729", "HP:0100279", "ICD10CM:K51", "ICD10WHO:K51", "ICD9:556", "ICD9:556.5", "ICD9:556.8", "ICD9:556.9", "MEDGEN:3532", "MESH:D003093", "NANDO:1200449", "NANDO:2200920", "NCIT:C2952", "Orphanet:771", "SCTID:64766004", "UMLS:C0009324", "icd11.foundation:784669405"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.", "id": "MONDO:0005102", "name": "Undifferentiated (embryonal) sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["UES", "embryonal sarcoma", "embryonal sarcoma (undifferentiated sarcoma)", "embryonal sarcoma, undifferentiated", "sarcoma, undifferentiated, malignant", "undifferentiated (embryonal) sarcoma", "undifferentiated sarcoma"], "xref": ["EFO:0000730", "GARD:0008650", "ICDO:8805/3", "ICDO:8991/3", "MEDGEN:163512", "NANDO:2200058", "NCIT:C27096", "UMLS:C0855073"]}
{"category": ["biolink:Disease"], "description": "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.", "id": "MONDO:0005103", "name": "Well-differentiated liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["WDLS", "well-differentiated liposarcoma"], "xref": ["EFO:0000736", "GARD:0019721", "ICDO:8851/3", "MEDGEN:237164", "NCIT:C4250", "ONCOTREE:WDLS", "Orphanet:99971", "UMLS:C1370889"]}
{"category": ["biolink:Disease"], "description": "A sarcoma with a total score of 2 or 3 according to the FNCLCC guidelines.", "id": "MONDO:0005104", "name": "Sarcoma g1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FNCLCC sarcoma grade 1", "aJCC G1 sarcoma", "aJCC grade 1 sarcoma", "sarcoma FNCLCC grade 1", "well differentiated sarcoma"], "xref": ["MEDGEN:235577", "NCIT:C9024", "NCIT:C9419", "UMLS:C1335913"]}
{"category": ["biolink:Disease"], "description": "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.", "id": "MONDO:0005105", "name": "Melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant melanoma", "melanoma", "melanoma (disease)", "melanoma, malignant"], "xref": ["DOID:1909", "EFO:0000756", "HP:0002861", "ICDO:8720/3", "MEDGEN:9944", "MESH:D008545", "NANDO:2200077", "NCIT:C3224", "ONCOTREE:MEL", "Orphanet:411533", "SCTID:372244006", "UMLS:C0025202"]}
{"category": ["biolink:Disease"], "description": "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.", "id": "MONDO:0005106", "name": "Lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign tumour of adipose tissue", "lipoma", "lipoma, benign", "lipomatosis, familial multiple", "lipomatous neoplasm (morphologic abnormality)"], "xref": ["DOID:3315", "EFO:0000759", "ICD9:214", "ICDO:8850/0", "MEDGEN:44173", "MESH:D008067", "NCIT:C3192", "SCTID:93163002", "UMLS:C0023798", "icd11.foundation:1090000716"]}
{"category": ["biolink:Disease"], "description": "Any disease caused by a virus.", "id": "MONDO:0005108", "name": "Viral infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Viruses caused disease or disorder", "Viruses disease or disorder", "Viruses infection", "Viruses infectious disease", "infection, viral", "viral disease", "viral disorder", "viral infection"], "xref": ["DOID:934", "EFO:0000763", "ICD9:060-066", "ICD9:066.9", "ICD9:078.89", "ICD9:079.99", "MESH:D014777", "NCIT:C3439", "SCTID:34014006"]}
{"category": ["biolink:Disease"], "description": "An infection caused by the human immunodeficiency virus.", "id": "MONDO:0005109", "name": "Hiv infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["HIV infection", "Human immunodeficiency virus caused disease or disorder", "Human immunodeficiency virus disease or disorder", "Human immunodeficiency virus infectious disease"], "xref": ["DOID:526", "EFO:0000764", "ICD10CM:B20-B20", "ICD9:042", "ICD9:042-042", "MEDGEN:5583", "MESH:D015658", "NANDO:2200810", "NCIT:C3108", "SCTID:86406008", "UMLS:C0019693"]}
{"category": ["biolink:Disease"], "description": "A disease of the heart muscle or myocardium proper whose cause is unknown.", "id": "MONDO:0005110", "name": "Idiopathic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0000767", "GARD:0024149", "MEDGEN:18634", "NCIT:C53654", "UMLS:C0033141"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Epstein-Barr virus.", "id": "MONDO:0005111", "name": "Epstein-barr virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["EBV infection", "Epstein-Barr Virus infection", "Human gammaherpesvirus 4 caused disease or disorder", "Human gammaherpesvirus 4 disease or disorder", "Human gammaherpesvirus 4 infectious disease"], "xref": ["DOID:2938", "EFO:0000769", "MEDGEN:57439", "MESH:D020031", "NCIT:C38759", "UMLS:C0149678"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.", "id": "MONDO:0005112", "name": "Malignant pleural mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant mesothelioma of pleura", "malignant mesothelioma of the pleura", "malignant pleural mesothelioma", "pleural diffuse malignant mesothelioma", "pleural malignant mesothelioma"], "xref": ["DOID:7474", "EFO:0000770", "GARD:0024150", "MEDGEN:208810", "NCIT:C7376", "SCTID:254645002", "UMLS:C0812413"]}
{"category": ["biolink:Disease"], "description": "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.", "id": "MONDO:0005113", "name": "Bacterial infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bacteria caused disease or disorder", "Bacteria disease or disorder", "Bacteria infectious disease", "bacterial disease", "bacterial disorder", "bacterial infection", "bacterial infectious disease", "infection, bacterial"], "xref": ["DOID:104", "EFO:0000771", "ICD9:040.89", "ICD9:041.89", "ICD9:041.9", "MEDGEN:14012", "MESH:D001424", "NCIT:C2890", "SCTID:87628006", "UMLS:C0004623"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the species streptococcus pneumoniae.", "id": "MONDO:0005114", "name": "Pneumococcal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Streptococcus pneumoniae caused disease or disorder", "Streptococcus pneumoniae disease or disorder", "Streptococcus pneumoniae infectious disease", "pneumococcal infection"], "xref": ["EFO:0000772", "ICD9:041.2", "MEDGEN:18528", "MESH:D011008", "SCTID:16814004", "UMLS:C0032269"]}
{"category": ["biolink:Disease"], "description": "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)", "id": "MONDO:0005115", "name": "Temporal lobe epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epilepsy of temporal lobe", "epilepsy, familial temporal lobe", "familial temporal lobe epilepsy syndrome", "temporal lobe epilepsy"], "xref": ["DOID:3328", "EFO:0000773", "GARD:0005135", "MEDGEN:4990", "MESH:D004833", "NCIT:C177244", "OMIMPS:600512", "Orphanet:98819", "SCTID:193000002", "SCTID:783739005", "UMLS:C0014556", "birnlex:12733"]}
{"category": ["biolink:Disease"], "description": "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.", "id": "MONDO:0005116", "name": "Whipple disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tropheryma whipplei caused disease or disorder", "Tropheryma whipplei disease or disorder", "Tropheryma whipplei infectious disease", "Whipple disease", "intestinal lipodystrophy", "intestinal lipophagic granulomatosis", "secondary non-tropical sprue"], "xref": ["DOID:8476", "EFO:0000775", "GARD:0007889", "ICD10CM:K90.81", "ICD9:040.2", "MEDGEN:7347", "MESH:D008061", "MedDRA:10047931", "NCIT:C85228", "NORD:1850", "Orphanet:3452", "SCTID:41545003", "UMLS:C0023788", "icd11.foundation:1131038233"]}
{"category": ["biolink:Disease"], "description": "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.", "id": "MONDO:0005117", "name": "Aeromonas hydrophila infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Aeromonas hydrophila caused disease or disorder", "Aeromonas hydrophila disease or disorder"], "xref": ["EFO:0000776"]}
{"category": ["biolink:Disease"], "description": "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.", "id": "MONDO:0005118", "name": "Human granulocytic anaplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HGA", "anaplasma caused disease or disorder", "anaplasmoses", "anaplasmosis", "human anaplasmosis", "human anaplasmosis caused by Anaplasma phagocytophilum", "infection by Anaplasma phagocytophilum"], "xref": ["DOID:0050025", "EFO:0000777", "GARD:0000071", "ICD10CM:A79.82", "ICD9:082.49", "MEDGEN:96911", "MESH:D000712", "NCIT:C128425", "SCTID:13906002", "SCTID:427481004", "SCTID:85708001", "UMLS:C0483368"]}
{"category": ["biolink:Disease"], "description": "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.", "id": "MONDO:0005119", "name": "Anthrax infection", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Bacillus anthracis caused disease or disorder", "Bacillus anthracis disease or disorder", "Bacillus anthracis infectious disease", "anthrax"], "xref": ["DOID:7427", "EFO:0000778", "GARD:0008157", "ICD10CM:A22", "ICD9:022", "ICD9:022.8", "ICD9:022.9", "MEDGEN:8110", "MESH:D000881", "NCIT:C84565", "SCTID:409498004", "UMLS:C0003175"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.", "id": "MONDO:0005121", "name": "Enterococcus faecalis infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Enterococcus faecalis caused disease or disorder", "Enterococcus faecalis disease or disorder", "Enterococcus faecalis infectious disease"], "xref": ["EFO:0000780", "MEDGEN:1843390", "UMLS:C0948752"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).", "id": "MONDO:0005122", "name": "Pectobacterium carotovorum infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pectobacterium caused disease or disorder", "Pectobacterium disease or disorder", "Pectobacterium infectious disease"], "xref": ["EFO:0000781", "Wikipedia:Pectobacterium_carotovorum"]}
{"category": ["biolink:Disease"], "description": "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.", "id": "MONDO:0005124", "name": "Leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hansen disease", "Hansen's disease", "Mycobacterium leprae caused disease or disorder", "Mycobacterium leprae disease or disorder", "Mycobacterium leprae infectious disease"], "xref": ["DOID:1024", "EFO:0001054", "GARD:0006886", "ICD10CM:A30", "ICD9:030", "ICD9:030.8", "ICD9:030.9", "MEDGEN:6049", "MESH:D007918", "MedDRA:10024229", "NCIT:C84824", "NORD:1362", "Orphanet:548", "SCTID:81004002", "UMLS:C0023343", "icd11.foundation:149072669"]}
{"category": ["biolink:Disease"], "description": "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.", "id": "MONDO:0005125", "name": "Borderline leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["borderline leprosy [group B]"], "xref": ["DOID:1023", "EFO:0001055", "GARD:0024151", "ICD10CM:A30.3", "ICD9:030.3", "MEDGEN:7305", "MESH:D015439", "SCTID:400154003", "UMLS:C0023346", "icd11.foundation:56771163"]}
{"category": ["biolink:Disease"], "description": "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.", "id": "MONDO:0005126", "name": "Tuberculoid leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculoid leprosy [type T]"], "xref": ["DOID:1025", "EFO:0001056", "GARD:0024152", "ICD10CM:A30.1", "ICD9:030.1", "MEDGEN:6050", "MESH:D015441", "SCTID:70143003", "UMLS:C0023351", "icd11.foundation:310697776"]}
{"category": ["biolink:Disease"], "description": "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.", "id": "MONDO:0005127", "name": "Lepromatous leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lepromatous leprosy [type L]"], "xref": ["DOID:10887", "EFO:0001057", "GARD:0024153", "ICD10CM:A30.5", "ICD9:030.0", "MEDGEN:7306", "MESH:D015440", "SCTID:21560005", "UMLS:C0023348", "icd11.foundation:365370459"]}
{"category": ["biolink:Disease"], "description": "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)", "id": "MONDO:0005129", "name": "Cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cataract", "cataract (disease)", "opacity of the lens"], "xref": ["DOID:83", "HP:0000518", "ICD9:366", "ICD9:366.44", "ICD9:366.8", "ICD9:366.9", "MEDGEN:39462", "MESH:D002386", "NCIT:C26713", "OMIMPS:116200", "SCTID:193570009", "UMLS:C0086543", "icd11.foundation:109841337"]}
{"category": ["biolink:Disease"], "description": "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.", "id": "MONDO:0005130", "name": "Celiac disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["celiac disease", "celiac sprue", "coeliac sprue", "gluten intolerance", "gluten-induced enteropathy", "non tropical sprue"], "xref": ["DOID:10608", "EFO:0001060", "ICD10CM:K90.0", "ICD9:579.0", "MEDGEN:3291", "MESH:D002446", "NCIT:C26714", "OMIMPS:212750", "Orphanet:555", "SCTID:396331005", "UMLS:C0007570", "icd11.foundation:2005943638"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.", "id": "MONDO:0005131", "name": "Cervical carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of cervix", "carcinoma of cervix uteri", "carcinoma of the cervix", "carcinoma of the cervix uteri", "carcinoma of the uterine cervix", "carcinoma of uterine cervix", "cervical carcinoma", "cervix carcinoma", "cervix uteri carcinoma", "uterine cervix carcinoma"], "xref": ["DOID:2893", "EFO:0001061", "MEDGEN:86222", "NCIT:C9039", "SCTID:285432005", "UMLS:C0302592", "icd11.foundation:1743710977"]}
{"category": ["biolink:Disease"], "description": "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.", "id": "MONDO:0005132", "name": "Cytomegalovirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CMV infection", "Cytomegaloviral infection", "HCMV infection"], "xref": ["EFO:0001062", "ICD9:078.5", "MEDGEN:8239", "MESH:D003586", "NCIT:C53649", "SCTID:28944009", "UMLS:C0010823"]}
{"category": ["biolink:Disease"], "description": "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.", "id": "MONDO:0005133", "name": "Endometriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometriosis", "endometriosis (disease)"], "xref": ["DOID:289", "EFO:0001065", "HP:0030127", "ICD10CM:N80", "ICD10WHO:N80", "ICD9:617", "ICD9:617.8", "ICD9:617.9", "MEDGEN:8620", "MESH:D004715", "NCIT:C3014", "SCTID:129103003", "UMLS:C0014175", "icd11.foundation:1838213761"]}
{"category": ["biolink:Disease"], "description": "A successful invasion of a host by an organism that uses the host for food and shelter.", "id": "MONDO:0005135", "name": "Parasitic infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease caused by parasite", "parasitic disease", "parasitic infection"], "xref": ["DOID:1398", "EFO:0001067", "ICD9:129", "ICD9:134.8", "ICD9:134.9", "ICD9:136.4", "ICD9:136.8", "ICD9:136.9", "ICD9:376.13", "MEDGEN:45325", "MESH:D010272", "NCIT:C27864", "SCTID:17322007", "UMLS:C0030499"]}
{"category": ["biolink:Disease"], "description": "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.", "id": "MONDO:0005136", "name": "Malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:12365", "EFO:0001068", "GARD:0006961", "ICD10CM:B53", "ICD9:084", "ICD9:084.6", "MEDGEN:7443", "MESH:D008288", "MedDRA:10025487", "NCIT:C34797", "NORD:1395", "Orphanet:673", "SCTID:61462000", "UMLS:C0024530", "icd11.foundation:1439886552"]}
{"category": ["biolink:Disease"], "description": "Any condition related to a disturbance between proper intake and utilization of nourishment.", "id": "MONDO:0005137", "name": "Nutritional disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["nutritional disorder"], "xref": ["DOID:374", "EFO:0001069", "ICD9:783.9", "MEDGEN:811347", "MESH:D009748", "NCIT:C26836", "SCTID:2492009", "UMLS:C3714509"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the lung", "id": "MONDO:0005138", "name": "Lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of lung", "carcinoma of the lung", "lung carcinoma"], "xref": ["DOID:3905", "EFO:0001071", "MEDGEN:195765", "NCIT:C4878", "UMLS:C0684249", "icd11.foundation:947165291"]}
{"category": ["biolink:Disease"], "description": "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.", "id": "MONDO:0005139", "name": "Morbid obesity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11981", "EFO:0001074", "ICD9:278.01", "MEDGEN:18128", "MESH:D009767", "SCTID:83911000119104", "UMLS:C0028756"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002", "id": "MONDO:0005140", "name": "Ovarian carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of ovary", "carcinoma of the ovary", "epithelial ovarian cancer", "ovarian carcinoma", "ovary carcinoma"], "xref": ["DOID:4001", "EFO:0001075", "GARD:0024154", "MEDGEN:1648335", "NCIT:C4908", "UMLS:C4721610"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus pseudomonas.", "id": "MONDO:0005141", "name": "Pseudomonas infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pseudomonas caused disease or disorder", "Pseudomonas disease or disorder", "Pseudomonas infectious disease"], "xref": ["EFO:0001076", "ICD9:041.7", "MEDGEN:10993", "MESH:D011552", "SCTID:63398001", "UMLS:C0033817"]}
{"category": ["biolink:Disease"], "description": "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.", "id": "MONDO:0005142", "name": "Pseudomonas aeruginosa cf5 infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.", "id": "MONDO:0005143", "name": "Pseudomonas aeruginosa pa14 infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0001078"]}
{"category": ["biolink:Disease"], "description": "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0005144", "name": "Familial amyotrophic lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary amyotrophic lateral sclerosis"], "xref": ["EFO:0001356", "GARD:0024155", "MEDGEN:1642547", "OMIMPS:105400", "UMLS:C4551993"]}
{"category": ["biolink:Disease"], "description": "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.", "id": "MONDO:0005145", "name": "Sporadic amyotrophic lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080917", "EFO:0001357", "GARD:0024156", "MEDGEN:400171", "UMLS:C1862941"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.", "id": "MONDO:0005146", "name": "Post-traumatic stress disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PTSD", "post-traumatic stress disorder", "traumatic neurosis"], "xref": ["DOID:2055", "EFO:0001358", "ICD10CM:F43.1", "ICD9:309.81", "MEDGEN:21345", "MESH:D013313", "NCIT:C3389", "SCTID:47505003", "UMLS:C0038436", "birnlex:12679"]}
{"category": ["biolink:Disease"], "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas.", "id": "MONDO:0005147", "name": "Type 1 diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["IDDM", "T1D", "T1DM", "diabetes mellitis type 1", "diabetes mellitis type I", "immune mediated diabetes", "insulin dependent diabetes", "juvenile diabetes", "type 1 diabetes", "type I diabetes", "type I diabetes mellitus"], "xref": ["DOID:9744", "ICD10CM:E10", "ICD10WHO:E10", "MEDGEN:41522", "MESH:D003922", "NANDO:2200460", "NCIT:C2986", "OMIM:222100", "Orphanet:243377", "SCTID:46635009", "UMLS:C0011854", "icd11.foundation:1651053999"]}
{"category": ["biolink:Disease"], "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.", "id": "MONDO:0005148", "name": "Type 2 diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["NIDDM", "T2D", "T2DM", "T2DM - type 2 diabetes mellitus", "adult onset diabetes", "adult-onset diabetes", "diabetes mellitis type 2", "diabetes mellitis type II", "diabetes mellitus, noninsulin-dependent", "diabetes mellitus, noninsulin-dependent, association with", "diabetes mellitus, noninsulin-dependent, late onset", "diabetes mellitus, type 2", "diabetes mellitus, type II", "diabetes, type 2", "insulin resistance, severe, digenic", "non-insulin dependent diabetes", "non-insulin dependent diabetes mellitus", "noninsulin dependent diabetes", "noninsulin-dependent diabetes mellitus", "type 2 diabetes", "type 2 diabetes mellitus", "type 2 diabetes mellitus non-insulin dependent", "type II diabetes", "type II diabetes mellitus"], "xref": ["DOID:9352", "ICD10CM:E11", "ICD10WHO:E11", "MEDGEN:41523", "MESH:D003924", "NANDO:2200461", "NCIT:C26747", "OMIM:125853", "SCTID:44054006", "UMLS:C0011860", "icd11.foundation:119724091"]}
{"category": ["biolink:Disease"], "description": "Increased pressure within the pulmonary circulation due to lung or heart disorder.", "id": "MONDO:0005149", "name": "Pulmonary hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:6432", "GARD:0027347", "MEDGEN:9376", "MESH:D006976", "MedDRA:10037400", "SCTID:70995007", "UMLS:C0020542", "icd11.foundation:1496633964"]}
{"category": ["biolink:Disease"], "description": "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.", "id": "MONDO:0005150", "name": "Age-related macular degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AMD", "ARMD", "Senile macular retinal degeneration", "age-related macular degeneration", "macular degeneration, age-related"], "xref": ["DOID:10871", "EFO:0001365", "GARD:0027715", "ICD9:362.50", "MEDGEN:116576", "NCIT:C84391", "OMIMPS:603075", "Orphanet:279", "SCTID:267718000", "UMLS:C0242383", "birnlex:12812", "icd11.foundation:1514301548"]}
{"category": ["biolink:Disease"], "description": "A disease involving the endocrine system.", "id": "MONDO:0005151", "name": "Endocrine system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders"], "xref": ["DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130"]}
{"category": ["biolink:Disease"], "description": "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.", "id": "MONDO:0005152", "name": "Hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pituitary insufficiency"], "xref": ["DOID:9406", "EFO:0001380", "ICD10CM:E23.0", "MEDGEN:9386", "MESH:D007018", "NANDO:1200387", "NANDO:2100110", "NCIT:C62591", "SCTID:74728003", "UMLS:C0020635", "icd11.foundation:768216194"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.", "id": "MONDO:0005153", "name": "Cervical adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma - cervix", "adenocarcinoma of cervix", "adenocarcinoma of cervix uteri", "adenocarcinoma of the cervix", "adenocarcinoma of the cervix uteri", "adenocarcinoma of the uterine cervix", "adenocarcinoma of uterine cervix", "cervical adenocarcinoma", "cervix adenocarcinoma", "cervix uteri adenocarcinoma", "uterine cervix adenocarcinoma"], "xref": ["DOID:3702", "EFO:0001416", "GARD:0020488", "MEDGEN:79024", "NCIT:C4029", "ONCOTREE:CEAD", "Orphanet:213772", "SCTID:254887002", "UMLS:C0279672", "icd11.foundation:261293318"]}
{"category": ["biolink:Disease"], "description": "A disease involving the liver.", "id": "MONDO:0005154", "name": "Liver disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of liver", "disease or disorder of liver", "disorder of liver", "hepatic disease", "hepatic disorder", "liver and intrahepatic bile duct disorder", "liver disease", "liver disease or disorder", "liver disorder"], "xref": ["DOID:409", "EFO:0001421", "ICD10CM:K70-K77", "ICD9:573.8", "ICD9:573.9", "MEDGEN:893061", "MESH:D008107", "NCIT:C3196", "SCTID:235856003", "UMLS:C4021780", "icd11.foundation:1784240230"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.", "id": "MONDO:0005155", "name": "Cirrhosis of liver", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cirrhosis"], "xref": ["DOID:5082", "EFO:0001422", "ICD9:571.5", "MEDGEN:7368", "MESH:D008103", "NANDO:2100268", "NANDO:2200937", "NCIT:C2951", "SCTID:19943007", "UMLS:C0023890"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the brain and the spinal cord.", "id": "MONDO:0005156", "name": "Encephalomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["central nervous system inflammation", "encephalitis and/or myelitis", "inflammation of central nervous system"], "xref": ["DOID:640", "EFO:0001423", "ICD9:323.9", "MEDGEN:8603", "MESH:D004679", "NCIT:C34580", "SCTID:62950007", "UMLS:C0014070"]}
{"category": ["biolink:Disease"], "description": "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.", "id": "MONDO:0005157", "name": "Lymphoid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphocytic and plasma cell neoplasm", "lymphocytic and plasma cell tumor", "lymphocytic and plasma cell tumour", "lymphocytic and plasmacytic neoplasm", "lymphocytic neoplasm", "lymphocytic tumor", "lymphocytic tumour", "lymphoid and plasma cell tumor", "lymphoid and plasma cell tumour", "lymphoid and plasmacytic neoplasm", "lymphoid and plasmacytic tumor", "lymphoid and plasmacytic tumour", "lymphoid neoplasm", "lymphoid tumor", "lymphoid tumour"], "xref": ["EFO:0001642", "GARD:0024157", "ICD9:200.7", "MEDGEN:108626", "NCIT:C7065", "ONCOTREE:LYMPH", "UMLS:C0598798"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the prostate gland.", "id": "MONDO:0005159", "name": "Prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of prostate", "carcinoma of prostate gland", "carcinoma of the prostate", "prostate carcinoma", "prostate gland carcinoma"], "xref": ["DOID:10286", "EFO:0001663", "MEDGEN:108657", "NCIT:C4863", "UMLS:C0600139"]}
{"category": ["biolink:Disease"], "description": "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.", "id": "MONDO:0005160", "name": "Aortic aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["abdominal aortic aneurysm, ruptured", "aortic aneurysm", "aortic aneurysm (disease)", "aortic aneurysm of unspecified site, ruptured", "ruptured abdominal aortic aneurysm", "ruptured thoracic aneurysm", "ruptured thoracic aortic aneurysm", "ruptured thoracoabdominal aortic aneurysm", "thoracic aortic aneurysm which HAS ruptured", "thoracic aortic aneurysm, ruptured", "thoracoabdominal aortic aneurysm, ruptured"], "xref": ["DOID:3627", "EFO:0001666", "HP:0004942", "ICD9:441.1", "ICD9:441.3", "ICD9:441.5", "ICD9:441.6", "MEDGEN:362", "MESH:D001014", "NANDO:2100101", "NANDO:2200294", "SCTID:73067008", "UMLS:C0003486"]}
{"category": ["biolink:Disease"], "description": "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.", "id": "MONDO:0005161", "name": "Human papilloma virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Human Papillomavirus infection", "Human papilloma Virus infection", "Human papillomavirus caused disease or disorder", "Human papillomavirus disease or disorder"], "xref": ["DOID:11166", "EFO:0001668", "ICD9:079.4", "MEDGEN:87475", "MESH:D030361", "NCIT:C27851", "SCTID:240532009", "UMLS:C0343641"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.", "id": "MONDO:0005164", "name": "Fibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fibrosarcoma", "fibrosarcoma (disease)", "fibrosarcoma (excluding infantile fibrosarcoma)", "fibrosarcoma - not infantile", "fibrosarcoma, malignant", "malignant fibromatous neoplasm"], "xref": ["DOID:3355", "EFO:0002087", "GARD:0002327", "HP:0100244", "ICD9:171.9", "ICDO:8810/3", "MEDGEN:5178", "MESH:D005354", "MedDRA:10016632", "NANDO:2200060", "NCIT:C3043", "ONCOTREE:FIBS", "Orphanet:2030", "SCTID:443250000", "UMLS:C0016057"]}
{"category": ["biolink:Disease"], "description": "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.", "id": "MONDO:0005165", "name": "Benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm", "benign neoplasm (disease)", "neoplasm (disease), benign"], "xref": ["DOID:0060072", "DOID:0060084", "DOID:0060085", "EFO:0002422", "ICD10CM:D10-D36", "ICD10WHO:D10-D36", "ICD9:210-229", "ICD9:229.8", "ICD9:229.9", "ICDO:8000/0", "MEDGEN:39483", "NCIT:C3677", "SCTID:20376005", "UMLS:C0086692"]}
{"category": ["biolink:Disease"], "description": "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.", "id": "MONDO:0005166", "name": "Osteoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["osteoma", "osteoma (disease)", "osteoma, benign"], "xref": ["EFO:0002423", "GARD:0024158", "HP:0100246", "ICDO:9180/0", "MEDGEN:18220", "MESH:D010016", "NCIT:C3296", "SCTID:302858007", "UMLS:C0029440"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.", "id": "MONDO:0005167", "name": "Fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroma", "fibroma, benign"], "xref": ["DOID:0050871", "EFO:0002424", "ICD9:215.9", "ICDO:8810/0", "MEDGEN:42016", "MESH:D005350", "NCIT:C3041", "SCTID:424568000", "UMLS:C0016045"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from immature B and T cells", "id": "MONDO:0005168", "name": "Neoplasm of immature b and t cells", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.", "id": "MONDO:0005169", "name": "Neoplasm of mature t-cells or nk-cells", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mature T and NK neoplasms", "mature T-cell and NK-cell neoplasm", "mature T-cell neoplasm"], "xref": ["EFO:0002426", "GARD:0024159", "MEDGEN:233675", "NCIT:C27909", "ONCOTREE:MTNN", "UMLS:C1334640"]}
{"category": ["biolink:Disease"], "description": "Proliferation of myeloid cells originating from a primitive stem cell.", "id": "MONDO:0005170", "name": "Myeloid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["myeloid malignancy", "myeloid neoplasm", "myeloid tumor", "myeloid tumour"], "xref": ["DOID:0070004", "EFO:0002427", "GARD:0024160", "ICDO:9975/1", "MEDGEN:445430", "NCIT:C9290", "ONCOTREE:MYELOID", "UMLS:C2939461"]}
{"category": ["biolink:Disease"], "description": "A disease involving the skeletal system.", "id": "MONDO:0005172", "name": "Skeletal system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of skeletal system", "disease or disorder of skeletal system", "disorder of skeletal system", "skeletal system disease", "skeletal system disease or disorder"], "xref": ["EFO:0002461", "MEDGEN:538042", "SCTID:88230002", "UMLS:C0263661"]}
{"category": ["biolink:Disease"], "description": "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.", "id": "MONDO:0005173", "name": "Actinic keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["actinic (solar) keratosis", "actinic keratosis", "actinic keratosis (disease)", "solar keratosis"], "xref": ["DOID:8866", "EFO:0002496", "HP:0025127", "ICD10CM:L57.0", "ICD9:702.0", "ICD9:702.19", "MEDGEN:9627", "MESH:D055623", "NCIT:C3148", "SCTID:201101007", "UMLS:C0022602", "icd11.foundation:1803982621"]}
{"category": ["biolink:Disease"], "description": "Acute form of hypotension (disease).", "id": "MONDO:0005174", "name": "Acute hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute hypotension (disease)", "hypotension (disease), acute"], "xref": ["EFO:0002497", "MEDGEN:1843489", "UMLS:C0745176"]}
{"category": ["biolink:Disease"], "description": "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.", "id": "MONDO:0005175", "name": "Aggressive insulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.", "id": "MONDO:0005176", "name": "Benign insulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["PMID:20545565", "Wikipedia:Insulitis"]}
{"category": ["biolink:Disease"], "description": "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.", "id": "MONDO:0005177", "name": "Serous cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["serous cystadenoma", "serous cystoma"], "xref": ["EFO:0002504", "ICDO:8441/0", "MEDGEN:64636", "NCIT:C3783", "UMLS:C0206709"]}
{"category": ["biolink:Disease"], "description": "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.", "id": "MONDO:0005178", "name": "Osteoarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["degenerative joint disease"], "xref": ["DOID:8398", "HP:0002758", "ICD10CM:M15-M19", "ICD10CM:M19", "ICD9:715.3", "MEDGEN:45244", "MESH:D010003", "NCIT:C3293", "SCTID:396275006", "UMLS:C0029408", "icd11.foundation:558562409"]}
{"category": ["biolink:Disease"], "description": "A benign adenoma of ovary", "id": "MONDO:0005179", "name": "Ovarian adenoma benign", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.", "id": "MONDO:0005180", "name": "Parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PD", "Parkinson disease", "Parkinson's disease", "paralysis agitans"], "xref": ["DOID:14330", "ICD10CM:G20", "ICD10WHO:G20", "ICD9:332", "ICD9:332.0", "MEDGEN:10590", "MESH:D010300", "NANDO:1200010", "NCIT:C26845", "OMIMPS:168600", "Orphanet:319705", "SCTID:49049000", "UMLS:C0030567", "birnlex:2098", "icd11.foundation:296066191"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)", "id": "MONDO:0005181", "name": "Progressive external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["chronic progressive external ophthalmoplegia [ambiguous]", "progressive external ophthalmoplegia"], "xref": ["DOID:12558", "EFO:0002509", "GARD:0004503", "HP:0000590", "ICD10CM:H49.4", "ICD9:378.72", "MEDGEN:102439", "MESH:D017246", "NANDO:1200174", "Orphanet:520820", "SCTID:46252003", "UMLS:C0162674", "icd11.foundation:1698427219"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.", "id": "MONDO:0005182", "name": "Serous cystadenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0002510"]}
{"category": ["biolink:Disease"], "description": "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.", "id": "MONDO:0005183", "name": "Ovarian cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign cystadenoma of ovary", "benign cystadenoma of the ovary", "benign ovarian cystadenoma", "cystadenoma of ovary", "cystadenoma of the ovary", "cystoma serosum simplex", "ovarian cystadenoma", "ovary cystadenoma", "simple cystoma of ovary", "simple cystoma of the ovary", "simple ovarian cystoma"], "xref": ["DOID:3269", "EFO:0002511", "ICD9:620.2", "MEDGEN:138041", "NCIT:C4060", "SCTID:198297004", "UMLS:C0346169"]}
{"category": ["biolink:Disease"], "description": "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.", "id": "MONDO:0005184", "name": "Pancreatic ductal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ductal adenocarcinoma of pancreas", "ductal adenocarcinoma of the pancreas", "pancreas ductal adenocarcinoma", "pancreas tubular adenocarcinoma", "pancreatic duct adenocarcinoma", "pancreatic ductal adenocarcinoma", "pancreatic ductal carcinoma", "pancreatic tubular adenocarcinoma"], "xref": ["DOID:3498", "DOID:3587", "EFO:0002517", "GARD:0027716", "ICD9:157.3", "MEDGEN:277490", "MESH:D021441", "NCIT:C9120", "UMLS:C1335302", "icd11.foundation:581089833"]}
{"category": ["biolink:Disease"], "description": "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.", "id": "MONDO:0005185", "name": "Chronic childhood arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["JRA"], "xref": ["NCIT:C27179", "SCTID:410793008", "Wikipedia:Juvenile_idiopathic_arthritis"]}
{"category": ["biolink:Disease"], "description": "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.", "id": "MONDO:0005186", "name": "Cocaine dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cocaine addiction"], "xref": ["DOID:9975", "EFO:0002610", "ICD10CM:F14.2", "ICD9:304.2", "ICD9:304.20", "MEDGEN:154705", "NCIT:C34492", "SCTID:31956009", "UMLS:C0600427", "icd11.foundation:1691013484"]}
{"category": ["biolink:Disease"], "description": "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.", "id": "MONDO:0005187", "name": "Human herpesvirus 8 infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["HHV8 infection", "Human Herpes Virus 8 infection", "Human Herpesvirus 8 infection"], "xref": ["EFO:0002612", "MEDGEN:268211", "NCIT:C39291", "UMLS:C1512508"]}
{"category": ["biolink:Disease"], "description": "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.", "id": "MONDO:0005188", "name": "Iatrogenic kaposi's sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_iatrogenic_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iatrogenic Kaposi sarcoma", "iatrogenic Kaposi's sarcoma"], "xref": ["GARD:0024161", "MEDGEN:235203", "NCIT:C35873", "UMLS:C1334149"]}
{"category": ["biolink:Disease"], "description": "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.", "id": "MONDO:0005189", "name": "Internal carotid artery stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0002615", "ICD9:433.10", "MEDGEN:87405", "SCTID:233964008", "UMLS:C0340569", "Wikipedia:Carotid_artery_stenosis"]}
{"category": ["biolink:Disease"], "description": "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.", "id": "MONDO:0005191", "name": "Metastatic melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metastatic malignant melanoma", "metastatic melanoma"], "xref": ["EFO:0002617", "MEDGEN:83002", "NCIT:C8925", "SCTID:443493003", "UMLS:C0278883"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the exocrine pancreas", "id": "MONDO:0005192", "name": "Exocrine pancreatic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of exocrine pancreas", "carcinoma of the pancreas", "exocrine pancreas carcinoma", "pancreas carcinoma", "pancreatic cancer (not islets)"], "xref": ["DOID:4905", "EFO:0002618", "GARD:0027717", "MEDGEN:65917", "NCIT:C3850", "SCTID:372142002", "UMLS:C0235974"]}
{"category": ["biolink:Disease"], "description": "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.", "id": "MONDO:0005193", "name": "Prostate intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PIN", "pin", "pin - prostatic intraepithelial neoplasia", "prostate intraepithelial neopl.", "prostate intraepithelial neoplasia (pin)", "prostatic intraepithelial neoplasia"], "xref": ["EFO:0002621", "ICD10CM:N42.31", "MEDGEN:76480", "MESH:D019048", "NCIT:C4064", "SCTID:254901000", "UMLS:C0282612"]}
{"category": ["biolink:Disease"], "description": "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.", "id": "MONDO:0005194", "name": "Rotavirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Rotavirus caused disease or disorder", "Rotavirus disease or disorder", "Rotavirus infectious disease"], "xref": ["EFO:0002622", "ICD9:078.89", "MEDGEN:19835", "MESH:D012400", "SCTID:18624000", "UMLS:C0035869"]}
{"category": ["biolink:Disease"], "description": "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.", "id": "MONDO:0005195", "name": "Septic peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0002623", "MEDGEN:574434", "PMID:22911262", "UMLS:C0341503", "Wikipedia:Septic_peritonitis", "icd11.foundation:1560416608"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.", "id": "MONDO:0005197", "name": "Thymus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Thymus neoplasm", "Thymus tumor", "Thymus tumour", "neoplasm of Thymus", "neoplasm of the Thymus", "neoplasm of thymus", "thymic neoplasm", "thymic tumor", "thymic tumour", "thymus neoplasm (disease)", "thymus tumor", "thymus tumour", "tumor of Thymus", "tumor of the Thymus", "tumor of thymus", "tumour of Thymus", "tumour of the Thymus", "tumour of thymus"], "xref": ["EFO:0002626", "GARD:0019767", "ICD9:239.89", "MEDGEN:811424", "NCIT:C3412", "ONCOTREE:THYMUS", "Orphanet:100100", "SCTID:127231009", "UMLS:C3714644"]}
{"category": ["biolink:Disease"], "description": "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.", "id": "MONDO:0005198", "name": "Vulvar intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VIN", "intraepithelial neoplasia of the vulva", "intraepithelial neoplasia of vulva", "squamous vulvar intraepithelial neoplasia", "vulva intraepithelial neoplasia", "vulval intraepithelial neoplasia", "vulvar intraepithelial tumor", "vulvar intraepithelial tumour"], "xref": ["EFO:0002627", "GARD:0019876", "MEDGEN:91093", "NCIT:C4756", "Orphanet:137583", "UMLS:C0346210"]}
{"category": ["biolink:Disease"], "description": "An dilated cardiomyopathy caused by infection with Viruses.", "id": "MONDO:0005200", "name": "Viral dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Viruses caused dilated cardiomyopathy", "Viruses dilated cardiomyopathy"], "xref": ["EFO:0002629", "GARD:0024162", "MEDGEN:538852", "SCTID:30496006", "UMLS:C0264797", "Wikipedia:Viral_cardiomyopathy"]}
{"category": ["biolink:Disease"], "description": "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.", "id": "MONDO:0005201", "name": "Restrictive cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["restrictive cardiomyopathy"], "xref": ["DOID:397", "EFO:0002630", "GARD:0020531", "ICD9:425.4", "MEDGEN:40111", "MESH:D002313", "MedDRA:10038748", "NANDO:1200292", "NANDO:1200293", "NANDO:2100058", "NANDO:2200233", "NCIT:C62798", "Orphanet:217632", "SCTID:415295002", "UMLS:C0007196", "icd11.foundation:316495940"]}
{"category": ["biolink:Disease"], "description": "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.", "id": "MONDO:0005202", "name": "Atopic ige-mediated allergic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0002686", "ICD9:995.3", "MEDGEN:739536", "SCTID:115665000", "UMLS:C1706410"]}
{"category": ["biolink:Disease"], "description": "An antiphospholipid syndrome that occurs as an isolated disorder.", "id": "MONDO:0005204", "name": "Primary antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024163", "ICD9:795.79", "MEDGEN:592740", "NANDO:1200267", "SCTID:239892009", "UMLS:C0409980", "icd11.foundation:85700944"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.", "id": "MONDO:0005206", "name": "Renal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of kidney", "kidney carcinoma", "renal carcinoma"], "xref": ["DOID:4451", "EFO:0002890", "MEDGEN:235133", "NCIT:C9384", "UMLS:C1378703", "icd11.foundation:1075394530"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.", "id": "MONDO:0005207", "name": "Choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chorioblastoma", "choriocarcinoma", "choriocarcinoma (disease)", "choriocarcinoma, malignant", "chorioepithelioma", "chorion carcinoma", "chorionic carcinoma"], "xref": ["DOID:3594", "EFO:0002893", "GARD:0006059", "HP:0100768", "ICDO:9100/3", "MEDGEN:40278", "MESH:D002822", "NANDO:2200070", "NCIT:C2948", "ONCOTREE:BCCA", "SCTID:188188009", "UMLS:C0008497"]}
{"category": ["biolink:Disease"], "description": "An amelanotic melanoma that involves the zone of skin.", "id": "MONDO:0005208", "name": "Amelanotic skin melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["amelanotic cutaneous (skin) melanoma", "amelanotic malignant melanoma (of skin)", "amelanotic malignant melanoma of skin", "amelanotic malignant melanoma of the skin", "amelanotic malignant skin melanoma", "amelanotic melanoma of skin", "amelanotic melanoma of the skin", "amelanotic melanoma of zone of skin", "amelanotic skin melanoma", "skin amelanotic melanoma", "zone of skin amelanotic melanoma"], "xref": ["DOID:10054", "EFO:0002894", "MEDGEN:91149", "NCIT:C4633", "UMLS:C0349515", "Wikipedia:Amelanotic_melanoma"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.", "id": "MONDO:0005210", "name": "Uterine corpus sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["body of uterus sarcoma", "corpus uteri sarcoma", "sarcoma of body of uterus", "sarcoma of corpus uteri", "sarcoma of the body of uterus", "sarcoma of the corpus uteri", "sarcoma of the uterine body", "sarcoma of the uterine corpus", "sarcoma of uterine body", "sarcoma of uterine corpus", "sarcoma of uterus", "uterine body sarcoma", "uterus sarcoma"], "xref": ["DOID:5165", "EFO:0002914", "GARD:0020476", "MEDGEN:137837", "MedDRA:10039497", "NCIT:C6339", "ONCOTREE:USARC", "Orphanet:213620", "SCTID:254877001", "UMLS:C0338113"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.", "id": "MONDO:0005211", "name": "Ovarian serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian serous adenocarcinoma", "ovarian serous carcinoma", "ovary serous adenocarcinoma", "serous adenocarcinoma of ovary", "serous adenocarcinoma of the ovary", "serous carcinoma of ovary", "serous carcinoma of the ovary"], "xref": ["DOID:0050933", "DOID:5744", "EFO:0002917", "GARD:0024164", "MEDGEN:233278", "NCIT:C7550", "ONCOTREE:SOC", "UMLS:C1335177"]}
{"category": ["biolink:Disease"], "description": "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.", "id": "MONDO:0005212", "name": "Rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["rhabdomyosarcoma", "rhabdomyosarcoma (disease)", "rhabdomyosarcoma, malignant"], "xref": ["DOID:3247", "EFO:0002918", "GARD:0011951", "HP:0002859", "ICD9:171.9", "ICDO:8900/3", "MEDGEN:20561", "MESH:D012208", "MedDRA:10039022", "NANDO:2200056", "NCIT:C3359", "ONCOTREE:RMS", "Orphanet:780", "SCTID:302847003", "UMLS:C0035412"]}
{"category": ["biolink:Disease"], "description": "A carcinoma involving a uterus.", "id": "MONDO:0005213", "name": "Uterine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of uterus", "uterus carcinoma"], "xref": ["EFO:0002919", "MEDGEN:755620", "SCTID:446022000", "UMLS:C2960452"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.", "id": "MONDO:0005214", "name": "Vulva sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mammalian vulva sarcoma", "sarcoma of mammalian vulva", "vulvar sarcoma"], "xref": ["DOID:2096", "GARD:0024165", "MEDGEN:65972", "NCIT:C40317", "SCTID:254897006", "UMLS:C0238525"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the mammalian vulva", "id": "MONDO:0005215", "name": "Vulvar carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of mammalian vulva", "carcinoma of the vulva", "carcinoma of vulva", "mammalian vulva carcinoma", "vulva carcinoma", "vulvar carcinoma"], "xref": ["DOID:1294", "EFO:0002921", "GARD:0009349", "MEDGEN:146159", "NCIT:C4866", "Orphanet:494418", "SCTID:447882007", "UMLS:C0677055"]}
{"category": ["biolink:Disease"], "description": "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.", "id": "MONDO:0005216", "name": "Hypopharyngeal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of hypopharynx", "carcinoma of the hypopharynx", "hypopharyngeal carcinoma", "hypopharynx carcinoma"], "xref": ["EFO:0002938", "GARD:0027718", "MEDGEN:237150", "NCIT:C9465", "UMLS:C1368404"]}
{"category": ["biolink:Disease"], "description": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0005217", "name": "Familial cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary cardiomyopathy"], "xref": ["EFO:0002945", "GARD:0024166", "ICD9:425.4", "MEDGEN:538845", "SCTID:35728003", "UMLS:C0264789", "icd11.foundation:1018022925"]}
{"category": ["biolink:Disease"], "description": "Fibrosis associated with cyst formation in the breast parenchyma.", "id": "MONDO:0005219", "name": "Breast fibrocystic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign breast disease", "breast fibrocystic change", "cystic disease of breast", "cystic disease of the breast", "diffuse cystic mastopathy", "fibrocystic breast", "fibrocystic breast changes", "fibrocystic breast disease", "fibrocystic change of breast", "fibrocystic change of the breast", "fibrocystic disease", "fibrocystic disease of breast", "fibrocystic disease of the breast", "fibrocystic mastopathy", "mammary dysplasia"], "xref": ["DOID:10354", "EFO:0003014", "ICD10CM:N60.1", "ICD9:610.1", "MEDGEN:42015", "MESH:D005348", "NCIT:C3039", "UMLS:C0016034"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule", "id": "MONDO:0005220", "name": "Collecting duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDC", "Bellini carcinoma", "Bellini duct carcinoma", "CDC", "cDC", "carcinoma of collecting duct of renal tubule", "carcinoma of collecting ducts of Bellini", "carcinoma of kidney collecting duct", "carcinoma of renal collecting duct", "carcinoma of the collecting ducts of Bellini", "carcinoma of the kidney collecting duct", "carcinoma of the renal collecting duct", "collecting duct carcinoma", "collecting duct of renal tubule carcinoma", "collecting duct renal cancer", "collecting duct renal cell carcinoma", "kidney collecting duct carcinoma", "renal carcinoma, collecting duct type", "renal collecting duct carcinoma"], "xref": ["DOID:4464", "EFO:0003016", "GARD:0009573", "ICDO:8319/3", "MEDGEN:266092", "NCIT:C6194", "ONCOTREE:CDRCC", "Orphanet:247203", "UMLS:C1266044", "icd11.foundation:1481495173"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.", "id": "MONDO:0005221", "name": "Renal pelvis urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["kidney renal pelvis urothelial cancer", "renal pelvis transitional cell carcinoma", "renal pelvis urothelial cancer", "renal pelvis urothelial carcinoma", "transitional cell carcinoma of renal pelvis", "transitional cell carcinoma of the renal pelvis", "urothelial cell carcinoma of renal pelvis", "urothelial cell carcinoma of the renal pelvis"], "xref": ["DOID:5974", "EFO:0003017", "GARD:0024167", "ICD9:189.0", "MEDGEN:1648131", "NCIT:C7355", "SCTID:408642003", "UMLS:C4087468"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)", "id": "MONDO:0005223", "name": "Acute myeloid leukemia with minimal differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AML M0", "AML with minimal differentiation", "M0 acute granulocytic leukaemia", "M0 acute granulocytic leukaemia with minimal differentiation", "M0 acute granulocytic leukemia", "M0 acute granulocytic leukemia with minimal differentiation", "M0 acute myeloblastic leukaemia", "M0 acute myeloblastic leukemia", "M0 acute myelocytic leukaemia", "M0 acute myelocytic leukemia", "M0 acute myelogenous leukaemia", "M0 acute myelogenous leukaemia with minimal differentiation", "M0 acute myelogenous leukemia", "M0 acute myelogenous leukemia with minimal differentiation", "M0 myeloid leukaemia", "M0 myeloid leukaemia with minimal differentiation", "M0 myeloid leukemia", "M0 myeloid leukemia with minimal differentiation", "acute myeloblastic leukaemia with minimal differentiation", "acute myeloblastic leukemia with minimal differentiation", "acute myeloblastic leukemia, minimally differentiated", "acute myelocytic leukaemia with minimal differentiation", "acute myelocytic leukemia with minimal differentiation", "acute myelogenous leukaemia with minimal differentiation", "acute myelogenous leukemia with minimal differentiation", "acute myeloid leukaemia with minimal differentiation (MO)", "acute myeloid leukemia with minimal differentiation", "acute myeloid leukemia with minimal differentiation (MO)", "acute myeloid leukemia, minimally differentiated", "minimally differentiated acute myeloblastic leukaemia", "minimally differentiated acute myeloblastic leukemia"], "xref": ["DOID:0081085", "EFO:0003026", "GARD:0019588", "ICDO:9872/3", "MEDGEN:101100", "NANDO:2200004", "NCIT:C8460", "ONCOTREE:AMLMD", "Orphanet:98832", "UMLS:C0522631", "icd11.foundation:1468530237"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)", "id": "MONDO:0005224", "name": "Acute myeloblastic leukemia without maturation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AML M1", "AML without maturation", "FAB M1", "M1 acute granulocytic leukaemia", "M1 acute granulocytic leukaemia without maturation", "M1 acute granulocytic leukemia", "M1 acute granulocytic leukemia without maturation", "M1 acute myeloblastic leukaemia", "M1 acute myeloblastic leukaemia without maturation", "M1 acute myeloblastic leukemia", "M1 acute myeloblastic leukemia without maturation", "M1 acute myelocytic leukaemia", "M1 acute myelocytic leukaemia without maturation", "M1 acute myelocytic leukemia", "M1 acute myelocytic leukemia without maturation", "M1 acute myelogenous leukaemia", "M1 acute myelogenous leukaemia without maturation", "M1 acute myelogenous leukemia", "M1 acute myelogenous leukemia without maturation", "M1 acute myeloid leukaemia", "M1 acute myeloid leukaemia without maturation", "M1 acute myeloid leukemia", "M1 acute myeloid leukemia without maturation", "acute M1 myeloid leukaemia", "acute M1 myeloid leukemia", "acute granulocytic leukaemia without maturation", "acute granulocytic leukemia without maturation", "acute myeloblastic leukaemia M1", "acute myeloblastic leukemia M1", "acute myelocytic leukaemia without maturation", "acute myelocytic leukemia without maturation", "acute myelogenous leukaemia without maturation", "acute myelogenous leukemia without maturation", "acute myeloid leukaemia without maturation", "acute myeloid leukaemia without maturation (FAB M1)", "acute myeloid leukemia without maturation", "acute myeloid leukemia without maturation (FAB M1)"], "xref": ["DOID:0081086", "EFO:0003027", "GARD:0000526", "ICDO:9873/3", "MEDGEN:10232", "NANDO:2200005", "NCIT:C3249", "ONCOTREE:AWM", "Orphanet:98833", "SCTID:359640008", "UMLS:C0026998"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.", "id": "MONDO:0005227", "name": "Abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["abscess (disease)"], "xref": ["EFO:0003030", "ICD9:682.8", "ICD9:682.9", "MEDGEN:1684", "MESH:D000038", "NCIT:C26686", "SCTID:128477000", "UMLS:C0000833", "Wikipedia:Abscess"]}
{"category": ["biolink:Disease"], "description": "An infectious disease caused by bacteria causing sepsis.", "id": "MONDO:0005229", "name": "Bacterial infectious disease with sepsis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["symptomatic bacteremia"], "xref": ["DOID:0040085", "EFO:0003033", "ICD9:790.7", "MEDGEN:482", "MESH:D016470", "SCTID:5758002", "UMLS:C0004610", "Wikipedia:Bacteremia"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.", "id": "MONDO:0005230", "name": "Cellulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cellulitis", "cellulitis (disease)"], "xref": ["DOID:3488", "EFO:0003035", "HP:0100658", "ICD10WHO:L03", "ICD9:682.8", "ICD9:682.9", "MEDGEN:40174", "MESH:D002481", "NCIT:C26715", "SCTID:128045006", "UMLS:C0007642", "Wikipedia:Cellulitis"]}
{"category": ["biolink:Disease"], "description": "A viral infection caused by the hepatitis C virus.", "id": "MONDO:0005231", "name": "Hepatitis c virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hepatitis C virus caused hepatitis", "Hepatitis C virus hepatitis", "NANBH", "hepatitis C infection", "hepatitis type C", "non-A, non-B Hepatitis"], "xref": ["DOID:1883", "EFO:0003047", "ICD9:070.41", "ICD9:070.54", "ICD9:070.7", "MEDGEN:42425", "MESH:D006526", "NCIT:C3098", "SCTID:128302006", "UMLS:C0019196"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm composed of large, atypical cells.", "id": "MONDO:0005232", "name": "Large cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma, large cell", "large cell carcinoma"], "xref": ["DOID:4552", "ICDO:8012/3", "MEDGEN:61665", "MESH:D018287", "NCIT:C3780", "UMLS:C0206704"]}
{"category": ["biolink:Disease"], "description": "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.", "id": "MONDO:0005233", "name": "Non-small cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NSCLC", "NSCLC - non-small cell lung cancer", "non-small cell cancer of lung", "non-small cell cancer of the lung", "non-small cell carcinoma of lung", "non-small cell carcinoma of the lung", "non-small cell lung cancer", "non-small cell lung carcinoma", "non-small cell lung carcinoma (disease)"], "xref": ["DOID:3908", "EFO:0003060", "HP:0030358", "MEDGEN:40104", "MESH:D002289", "NCIT:C2926", "ONCOTREE:NSCLC", "Orphanet:488201", "SCTID:254637007", "UMLS:C0007131"]}
{"category": ["biolink:Disease"], "description": "A plasma cell myeloma lacking clinical manifestations and organ impairment.", "id": "MONDO:0005235", "name": "Smoldering plasma cell myeloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["asymptomatic myeloma", "asymptomatic plasma cell myeloma", "smoldering Multiple myeloma/plasma cell myeloma", "smoldering multiple myeloma", "smoldering myeloma", "smoldering plasma cell myeloma", "smouldering Multiple myeloma/plasma cell myeloma", "smouldering multiple myeloma", "smouldering myeloma"], "xref": ["DOID:9551", "EFO:0003073", "GARD:0024168", "MEDGEN:280653", "NCIT:C7149", "SCTID:440422002", "UMLS:C1531608"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.", "id": "MONDO:0005236", "name": "Xanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["xanthoma", "xanthoma (disease)"], "xref": ["EFO:0003075", "HP:0001114", "MEDGEN:86216", "NCIT:C4071", "UMLS:C0302314"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.", "id": "MONDO:0005238", "name": "Round cell liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cellular myxoid liposarcoma", "round cell liposarcoma", "round cell liposarcoma (morphologic abnormality)"], "xref": ["DOID:5692", "EFO:0003084", "GARD:0024169", "ICD9:171.9", "ICDO:8853/3", "MEDGEN:90787", "NCIT:C4252", "SCTID:404070007", "UMLS:C0334471"]}
{"category": ["biolink:Disease"], "description": "A disease involving the kidney.", "id": "MONDO:0005240", "name": "Kidney disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of kidney", "disease or disorder of kidney", "disorder of kidney", "kidney disease", "kidney disease or disorder", "kidney disorder", "renal disease", "renal disorder"], "xref": ["DOID:557", "EFO:0003086", "ICD9:583.81", "MEDGEN:9635", "MESH:D007674", "NCIT:C3149", "SCTID:90708001", "UMLS:C0022658"]}
{"category": ["biolink:Disease"], "description": "An accumulation of pus in a body cavity, usually the pleural space.", "id": "MONDO:0005242", "name": "Empyema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003097", "ICD9:510", "MEDGEN:8597", "MESH:D004653", "NCIT:C34572", "SCTID:312682007", "UMLS:C0014009"]}
{"category": ["biolink:Disease"], "description": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.", "id": "MONDO:0005244", "name": "Peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neuropathy", "peripheral nerve disorder", "peripheral neuropathy"], "xref": ["DOID:870", "EFO:0003100", "MEDGEN:18386", "MedDRA:10034606", "NCIT:C119734", "NCIT:C4731", "SCTID:302226006", "SCTID:386033004", "UMLS:C0031117"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.", "id": "MONDO:0005246", "name": "Osteomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["osteomyelitis", "osteomyelitis (disease)"], "xref": ["DOID:1019", "EFO:0003102", "GARD:0007286", "HP:0002754", "ICD10CM:M86", "ICD10WHO:M86", "ICD9:730.0", "ICD9:730.01", "ICD9:730.1", "ICD9:730.10", "ICD9:730.11", "ICD9:730.20", "ICD9:730.28", "ICD9:730.92", "ICD9:730.93", "ICD9:730.94", "ICD9:730.96", "ICD9:730.97", "MEDGEN:10497", "MESH:D010019", "NCIT:C27577", "SCTID:60168000", "UMLS:C0029443"]}
{"category": ["biolink:Disease"], "description": "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.", "id": "MONDO:0005247", "name": "Bacterial urinary tract infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bacterial urinary tract infection (disease)"], "xref": ["ICD9:599.0", "MEDGEN:675826", "NCIT:C50791", "SCTID:68566005", "UMLS:C0729524"]}
{"category": ["biolink:Disease"], "description": "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.", "id": "MONDO:0005249", "name": "Pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:552", "EFO:0003106", "ICD10CM:J15", "ICD10CM:J18.9", "ICD9:483", "ICD9:483.8", "ICD9:484.8", "ICD9:486", "MEDGEN:10813", "MESH:D011014", "NCIT:C3333", "SCTID:233604007", "UMLS:C0032285", "icd11.foundation:142052508"]}
{"category": ["biolink:Disease"], "description": "Inflammatory process that involves the chorionic villi (villitis) of the placenta.", "id": "MONDO:0005250", "name": "Placental villitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003110", "MEDGEN:693918", "SCTID:388604008", "UMLS:C1270169"]}
{"category": ["biolink:Disease"], "description": "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.", "id": "MONDO:0005252", "name": "Heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiac failure", "cardiac insufficiency", "failure, heart", "heart failure", "insufficiency, Cardiac"], "xref": ["EFO:0003144", "ICD10CM:I50", "ICD10WHO:I50", "ICD9:428", "ICD9:428.9", "MEDGEN:6749", "MESH:D006333", "NCIT:C50577", "SCTID:84114007", "UMLS:C0018801", "icd11.foundation:1458683894"]}
{"category": ["biolink:Disease"], "description": "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.", "id": "MONDO:0005253", "name": "High output heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003145", "ICD10CM:I50.83", "MEDGEN:526135", "SCTID:10091002", "UMLS:C0221045", "Wikipedia:High-output_cardiac_failure"]}
{"category": ["biolink:Disease"], "description": "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc", "id": "MONDO:0005254", "name": "Symptomatic heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0003146"]}
{"category": ["biolink:Disease"], "description": "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.", "id": "MONDO:0005255", "name": "Mild heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0003147", "Wikipedia:New_York_Heart_Association_Functional_Classification"]}
{"category": ["biolink:Disease"], "description": "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.", "id": "MONDO:0005256", "name": "Moderate heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0003148", "Wikipedia:New_York_Heart_Association_Functional_Classification"]}
{"category": ["biolink:Disease"], "description": "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.", "id": "MONDO:0005257", "name": "Advanced heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0003149", "Wikipedia:New_York_Heart_Association_Functional_Classification"]}
{"category": ["biolink:Disease"], "description": "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.", "id": "MONDO:0005258", "name": "Autism spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["autism spectrum disorder", "autistic spectrum disorder", "pervasive developmental disorder - not otherwise specified", "pervasive developmental disorders"], "xref": ["DOID:0060041", "EFO:0003756", "MEDGEN:307153", "NCIT:C88412", "Orphanet:106", "SCTID:408856003", "UMLS:C1510586", "icd11.foundation:437815624"]}
{"category": ["biolink:Disease"], "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.", "id": "MONDO:0005260", "name": "Autism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Kanner's syndrome", "autism", "autism (disease)", "infantile autism"], "xref": ["DOID:12849", "EFO:0003758", "HP:0000717", "ICD10CM:F84.0", "ICD9:299.0", "MEDGEN:13966", "MESH:D001321", "NCIT:C97161", "OMIM:209850", "UMLS:C0004352"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired cyst that is present in the central nervous system.", "id": "MONDO:0005262", "name": "Central nervous system cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CNS cyst", "central nervous system cyst", "central nervous system cyst (disease)", "cyst of CNS", "cyst of Central nervous system", "cyst of the CNS", "cyst of the Central nervous system"], "xref": ["EFO:0003760", "HP:0030724", "MEDGEN:138106", "MESH:D020863", "NCIT:C4657", "SCTID:277333006", "UMLS:C0349606"]}
{"category": ["biolink:Disease"], "description": "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.", "id": "MONDO:0005264", "name": "Transient ischemic attack", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["TIA", "TIA - transient ischemic attack", "attack, transient ischaemic", "attack, transient ischemic", "ischaemic attack, transient", "ischemic attack, transient", "transient cerebral ischemia (disorder) [ambiguous]", "transient ischaemic attack (disease)", "transient ischaemic attacks", "transient ischemic attack", "transient ischemic attack (disease)", "transient ischemic attacks"], "xref": ["DOID:224", "EFO:0003764", "HP:0002326", "ICD9:435", "ICD9:435.8", "ICD9:435.9", "MEDGEN:853", "MESH:D002546", "NCIT:C50781", "SCTID:266257000", "UMLS:C0007787", "icd11.foundation:826335789"]}
{"category": ["biolink:Disease"], "description": "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.", "id": "MONDO:0005265", "name": "Inflammatory bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IBD", "autoimmune bowel disorder", "inflammatory bowel disease"], "xref": ["DOID:0050589", "EFO:0003767", "ICD9:558.9", "MEDGEN:43877", "MESH:D015212", "NANDO:2100259", "NCIT:C3138", "OMIMPS:266600", "SCTID:24526004", "UMLS:C0021390"]}
{"category": ["biolink:Disease"], "description": "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.", "id": "MONDO:0005266", "name": "Diabetic retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8947", "EFO:0003770", "ICD9:362.0", "MEDGEN:3786", "MESH:D003930", "NCIT:C34538", "SCTID:4855003", "UMLS:C0011884", "icd11.foundation:1006882070"]}
{"category": ["biolink:Disease"], "description": "A disease involving the heart and/or pericardium.", "id": "MONDO:0005267", "name": "Heart disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["cardiac disease", "disease of heart", "disease or disorder of heart", "disorder of heart", "disorder of heart/pericardium", "heart disease", "heart disease or disorder", "heart disorder", "heart trouble", "heart/pericardial disease", "heart/pericardial disease or disorder", "heart/pericardial disorder", "heart/pericardial trouble"], "xref": ["DOID:114", "EFO:0003777", "ICD9:429.89", "ICD9:429.9", "ICD9:V47.2", "MEDGEN:5458", "MESH:D006331", "NCIT:C3079", "SCTID:56265001", "UMLS:C0018799", "icd11.foundation:1512587470"]}
{"category": ["biolink:Disease"], "description": "A disease involving the carotid artery segment.", "id": "MONDO:0005269", "name": "Carotid artery disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carotid artery disorder", "carotid artery segment disease", "carotid artery segment disease or disorder", "disease of carotid artery segment", "disease or disorder of carotid artery segment", "disorder of carotid artery segment"], "xref": ["DOID:3407", "EFO:0003781", "ICD9:447.9", "MEDGEN:2892", "MESH:D002340", "NCIT:C84476", "SCTID:371160000", "UMLS:C0007273"]}
{"category": ["biolink:Disease"], "description": "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.", "id": "MONDO:0005271", "name": "Allergic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic disease or disorder", "allergic form of disease or disorder", "allergic form of immune system disease", "allergic reaction", "allergic response", "allergy", "disorder of type I hypersensitivity", "type I hypersensitivity disease"], "xref": ["DOID:1205", "ICD9:995.3", "ICD9:V15.09", "MEDGEN:9370", "MESH:D006967", "NCIT:C114476", "SCTID:609328004", "UMLS:C0020517"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.", "id": "MONDO:0005272", "name": "Myelodysplastic syndrome with single lineage dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDS with single lineage dysplasia", "MDS-SLD", "RA", "refractory anaemia", "refractory anemia"], "xref": ["EFO:0003802", "GARD:0019585", "ICD9:238.72", "ICDO:9980/3", "MEDGEN:415300", "MESH:D000753", "MedDRA:10038269", "NCIT:C2872", "NCIT:C82591", "Orphanet:98826", "SCTID:109996008", "SCTID:1153345005", "UMLS:C2826318", "icd11.foundation:149518956"]}
{"category": ["biolink:Disease"], "description": "A disease involving the lung.", "id": "MONDO:0005275", "name": "Lung disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lung", "disease or disorder of lung", "disorder of lung", "lung disease", "lung disease or disorder", "lung disorder", "lung disorders", "pulmonary disease", "pulmonary diseases", "pulmonary disorder", "pulmonary disorders"], "xref": ["DOID:850", "EFO:0003818", "ICD9:518.89", "MEDGEN:7399", "MESH:D008171", "NCIT:C3198", "SCTID:19829001", "UMLS:C0024115"]}
{"category": ["biolink:Disease"], "description": "The decay of a tooth, in which it becomes softened, discolored, and/or porous.", "id": "MONDO:0005276", "name": "Dental caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:216", "EFO:0003819", "ICD10CM:K02", "ICD10WHO:K02", "ICD9:521.0", "ICD9:521.00", "ICD9:521.06", "ICD9:521.07", "MEDGEN:8288", "MESH:D003731", "SCTID:80967001", "UMLS:C0011334", "icd11.foundation:1983306720"]}
{"category": ["biolink:Disease"], "description": "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.", "id": "MONDO:0005277", "name": "Migraine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["migraine", "migraine headache"], "xref": ["DOID:6364", "ICD10CM:G43", "ICD9:346", "ICD9:346.9", "MEDGEN:57451", "MESH:D008881", "NCIT:C89715", "UMLS:C0149931", "icd11.foundation:669367341"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.", "id": "MONDO:0005278", "name": "Serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["serous adenocarcinoma"], "xref": ["DOID:3114", "EFO:0003825", "NCIT:C40101"]}
{"category": ["biolink:Disease"], "description": "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.", "id": "MONDO:0005279", "name": "Pulmonary embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["embolism, pulmonary", "pulmonary embolism", "pulmonary embolism (disease)", "pulmonary embolus"], "xref": ["DOID:9477", "EFO:0003827", "HP:0002204", "ICD10CM:I26", "ICD10WHO:I26", "ICD9:415.19", "MEDGEN:11027", "MESH:D011655", "NCIT:C50713", "SCTID:59282003", "UMLS:C0034065", "icd11.foundation:1014964218"]}
{"category": ["biolink:Disease"], "description": "An infectious or non-infectious inflammatory process affecting the prostate gland.", "id": "MONDO:0005280", "name": "Prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of prostate gland", "prostate gland inflammation", "prostatitis", "prostatitis (disease)"], "xref": ["DOID:14654", "EFO:0003830", "HP:0000024", "ICD9:601", "ICD9:601.4", "ICD9:601.8", "ICD9:601.9", "MEDGEN:10965", "MESH:D011472", "NCIT:C26866", "SCTID:9713002", "UMLS:C0033581"]}
{"category": ["biolink:Disease"], "description": "A disease involving the gall bladder.", "id": "MONDO:0005281", "name": "Gallbladder disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Gall bladder disorder", "disease of gall bladder", "disease or disorder of gall bladder", "disorder of gall bladder", "gall bladder disease", "gall bladder disease or disorder", "gallbladder disorder"], "xref": ["DOID:0060262", "EFO:0003832", "ICD10CM:K82", "ICD9:575.8", "ICD9:575.9", "MEDGEN:8947", "MESH:D005705", "NCIT:C34631", "SCTID:39621005", "UMLS:C0016977"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.", "id": "MONDO:0005282", "name": "Cutaneous lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050169", "EFO:0003834", "GARD:0006225", "MEDGEN:7401", "MESH:D008178", "NCIT:C26819", "SCTID:7119001", "UMLS:C0024137", "icd11.foundation:1401395930"]}
{"category": ["biolink:Disease"], "description": "Any disease or disorder of the retina.", "id": "MONDO:0005283", "name": "Retinal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eye disease of retina", "retina eye disease", "retinopathy"], "xref": ["DOID:5679", "EFO:0003839", "HGNC:8002", "ICD9:362.89", "ICD9:362.9", "MEDGEN:11209", "MESH:D012164", "NCIT:C26875", "NCIT:C62601", "SCTID:29555009", "UMLS:C0035309"]}
{"category": ["biolink:Disease"], "description": "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)", "id": "MONDO:0005284", "name": "Chronic progressive multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003840", "MEDGEN:140733", "MESH:D020528", "SCTID:230373008", "UMLS:C0393665"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.", "id": "MONDO:0005286", "name": "Palatal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of palate", "neoplasm of secondary palate", "neoplasm of the palate", "palate neoplasm", "palate tumor", "palate tumour", "secondary palate neoplasm", "secondary palate neoplasm (disease)", "secondary palate tumor", "secondary palate tumour", "tumor of palate", "tumor of secondary palate", "tumor of the palate", "tumour of palate", "tumour of secondary palate", "tumour of the palate"], "xref": ["EFO:0003849", "MEDGEN:14576", "MESH:D010157", "NCIT:C4402", "SCTID:126805009", "UMLS:C0030215"]}
{"category": ["biolink:Disease"], "description": "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)", "id": "MONDO:0005287", "name": "Developmental disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003852", "MESH:D002658"]}
{"category": ["biolink:Disease"], "description": "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.", "id": "MONDO:0005288", "name": "Intestinal polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestinal polyp", "intestinal polyp (disease)"], "xref": ["EFO:0003855", "HP:0005266", "ICD9:569.89", "MEDGEN:9526", "MESH:D007417", "SCTID:254588001", "UMLS:C0021846"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0005289", "name": "Paranasal sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["accessory sinus neoplasm", "accessory sinus tumor", "accessory sinus tumour", "neoplasm of accessory sinus", "neoplasm of paranasal sinus", "neoplasm of the accessory sinus", "neoplasm of the paranasal sinus", "paranasal sinus neoplasm", "paranasal sinus neoplasm (disease)", "paranasal sinus neoplasms", "paranasal sinus tumor", "paranasal sinus tumour", "tumor of accessory sinus", "tumor of paranasal sinus", "tumor of the accessory sinus", "tumor of the paranasal sinus", "tumour of accessory sinus", "tumour of paranasal sinus", "tumour of the accessory sinus", "tumour of the paranasal sinus"], "xref": ["DOID:1350", "EFO:0003866", "GARD:0024171", "HP:0030072", "MEDGEN:18296", "NCIT:C7488", "SCTID:126675008", "UMLS:C0030470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005290", "medic_stub": true, "name": "obsolete rhabdomyolysis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired aneurysm within the cranium.", "id": "MONDO:0005291", "name": "Brain aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10941", "EFO:0003870", "MEDGEN:196706", "MESH:D002532", "UMLS:C0751003"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the colon.", "id": "MONDO:0005292", "name": "Colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colitis", "colitis (disease)", "colon inflammation", "inflammation of colon"], "xref": ["DOID:0060180", "EFO:0003872", "HP:0002583", "ICD9:558.9", "MEDGEN:40385", "MESH:D003092", "NCIT:C26723", "SCTID:64226004", "UMLS:C0009319", "icd11.foundation:1870792958"]}
{"category": ["biolink:Disease"], "description": "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.", "id": "MONDO:0005293", "name": "Flatfoot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fallen Arch", "flat Foot"], "xref": ["EFO:0003874", "ICD9:734", "MEDGEN:42034", "MESH:D005413", "NCIT:C34616", "SCTID:53226007", "UMLS:C0016202"]}
{"category": ["biolink:Disease"], "description": "Any disorder affecting blood flow through the veins or arteries outside of the heart.", "id": "MONDO:0005294", "name": "Peripheral vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease, peripheral vascular", "peripheral vascular disorder", "vascular disease, peripheral"], "xref": ["DOID:341", "EFO:0003875", "ICD9:443.81", "MEDGEN:38790", "MESH:D016491", "NCIT:C35136", "UMLS:C0085096", "icd11.foundation:426429380"]}
{"category": ["biolink:Disease"], "description": "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.", "id": "MONDO:0005295", "name": "Intermittent vascular claudication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3669", "EFO:0003876", "ICD9:440.21", "MEDGEN:7115", "MESH:D007383", "SCTID:63491006", "UMLS:C0021775"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.", "id": "MONDO:0005296", "name": "Sleep apnea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SDB", "sleep apnea", "sleep apnea syndrome", "sleep apneas", "sleep disordered breathing", "sleep-disordered breathing"], "xref": ["DOID:0050847", "EFO:0003877", "HP:0010535", "ICD10CM:G47.3", "ICD9:780.57", "MEDGEN:11458", "MESH:D012891", "NCIT:C148023", "SCTID:111489007", "SCTID:73430006", "UMLS:C0037315"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the urethra.", "id": "MONDO:0005297", "name": "Urethritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of urethra", "urethra inflammation", "urethritis", "urethritis (disease)"], "xref": ["DOID:1343", "EFO:0003878", "HP:0500006", "ICD9:099.40", "ICD9:597.80", "MEDGEN:52934", "MESH:D014526", "NCIT:C26904", "SCTID:84619001", "UMLS:C0041976"]}
{"category": ["biolink:Disease"], "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).", "id": "MONDO:0005298", "name": "Osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["bone mineral density quantitative trait locus", "osteoporosis, involutional", "osteoporosis, postmenopausal"], "xref": ["DOID:11476", "EFO:0003882", "ICD10CM:M81", "ICD9:733.0", "ICD9:733.00", "ICD9:733.09", "MEDGEN:14535", "MESH:D010024", "NCIT:C3298", "OMIM:166710", "SCTID:64859006", "UMLS:C0029456", "icd11.foundation:2113001430"]}
{"category": ["biolink:Disease"], "description": "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.", "id": "MONDO:0005299", "name": "Brain ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["brain ischaemic disease", "brain ischemia", "brain ischemic disease", "cerebrovascular ischemia", "ischaemic disease of brain", "ischemia cerebrovascular", "ischemic disease of brain"], "xref": ["DOID:2316", "ICD9:348.89", "MEDGEN:182975", "MESH:D002545", "NCIT:C78394", "SCTID:389100007", "UMLS:C0917798"]}
{"category": ["biolink:Disease"], "description": "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.", "id": "MONDO:0005300", "name": "Chronic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CKD - chronic kidney disease", "chronic kidney disease", "chronic renal disease", "kidney disease, chronic"], "xref": ["DOID:784", "EFO:0003884", "ICD10CM:N18", "ICD10CM:N18.9", "ICD10WHO:N18", "ICD9:585", "MEDGEN:473458", "MESH:D007676", "NANDO:2100008", "NANDO:2100023", "NCIT:C80078", "SCTID:709044004", "UMLS:C1561643", "icd11.foundation:412389819"]}
{"category": ["biolink:Disease"], "description": "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.", "id": "MONDO:0005301", "name": "Multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2377", "ICD10CM:G35", "ICD10WHO:G35", "ICD9:340", "MEDGEN:10123", "MESH:D009103", "NANDO:1200023", "NANDO:2100250", "NANDO:2200904", "NCIT:C3243", "Orphanet:802", "SCTID:24700007", "UMLS:C0026769", "icd11.foundation:1298865187"]}
{"category": ["biolink:Disease"], "description": "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.", "id": "MONDO:0005302", "name": "Attention deficit hyperactivity disorder, inattentive type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADD", "attention deficit disorder", "attention deficit hyperactivity disorder, inattentive/distractible type", "attention deficit hyperactivity disorder, predominantly inattentive type"], "xref": ["DOID:1094", "ICD9:314.01", "ICD9:314.8", "ICD9:314.9", "MEDGEN:473060", "MESH:D001289", "NCIT:C35092", "SCTID:406506008", "UMLS:C0339002"]}
{"category": ["biolink:Disease"], "description": "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.", "id": "MONDO:0005303", "name": "Drug dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chemical dependence"], "xref": ["DOID:9974", "EFO:0003890", "ICD9:304", "ICD9:304.6", "ICD9:304.60", "ICD9:304.90", "MEDGEN:307144", "NCIT:C3894", "SCTID:191816009", "UMLS:C1510472"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that involves the biliary tract.", "id": "MONDO:0005304", "name": "Biliary tract neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["biliary tract neoplasm", "biliary tract neoplasm (disease)", "biliary tree neoplasm", "biliary tree neoplasm (disease)", "biliary tree tumor", "biliary tree tumour", "neoplasm of biliary tree", "tumor of biliary tree", "tumour of biliary tree"], "xref": ["DOID:0050625", "EFO:0003891", "HP:0100574", "MEDGEN:14118", "ONCOTREE:BILIARY_TRACT", "SCTID:126853008", "UMLS:C0005426"]}
{"category": ["biolink:Disease"], "description": "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.", "id": "MONDO:0005306", "name": "Ankylosing spondylitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ankylosing spondylarthritis"], "xref": ["DOID:7147", "EFO:0003898", "ICD10CM:M45", "ICD10WHO:M45", "ICD9:720.0", "MEDGEN:11561", "MESH:D013167", "NANDO:1200870", "NCIT:C84564", "Orphanet:825", "SCTID:9631008", "UMLS:C0038013"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.", "id": "MONDO:0005308", "name": "Ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ciliopathy"], "xref": ["DOID:0060340", "EFO:0003900", "GARD:0021544", "GTR:AN0966173", "MEDGEN:908923", "Orphanet:363250", "UMLS:C4277690"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)", "id": "MONDO:0005310", "name": "Atrial flutter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrial flutter", "atrial flutter (disease)"], "xref": ["EFO:0003911", "HP:0004749", "ICD9:427.32", "MEDGEN:13955", "MESH:D001282", "NANDO:2100050", "NANDO:2200218", "NANDO:2200225", "NCIT:C51224", "SCTID:5370000", "UMLS:C0004239", "icd11.foundation:1034471684"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.", "id": "MONDO:0005311", "name": "Atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atherosclerosis of artery"], "xref": ["DOID:1936", "EFO:0003914", "ICD10CM:I70", "ICD10WHO:I70", "ICD9:440", "ICD9:440.8", "MEDGEN:13948", "MESH:D050197", "NCIT:C35768", "SCTID:441574008", "UMLS:C0004153", "icd11.foundation:109367356"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).", "id": "MONDO:0005312", "name": "Pouchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0003921", "GARD:0020510", "ICD10CM:K91.850", "ICD9:569.71", "MEDGEN:138232", "MESH:D019449", "Orphanet:217067", "UMLS:C0376620"]}
{"category": ["biolink:Disease"], "description": "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.", "id": "MONDO:0005313", "name": "Necrotizing enterocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEC", "necrotizing enterocolitis"], "xref": ["EFO:0003928", "GARD:0009767", "ICD10CM:K55.3", "ICD9:777.5", "MEDGEN:105440", "MESH:D020345", "NCIT:C84915", "Orphanet:391673", "SCTID:2707005", "UMLS:C0520459", "icd11.foundation:141267925"]}
{"category": ["biolink:Disease"], "description": "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)", "id": "MONDO:0005314", "name": "Relapsing-remitting multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2378", "EFO:0003929", "MEDGEN:155669", "MESH:D020529", "NANDO:1200024", "NANDO:2201319", "NCIT:C165675", "SCTID:426373005", "UMLS:C0751967", "icd11.foundation:799053936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005315", "medic_stub": true, "name": "bone fracture", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.", "id": "MONDO:0005316", "name": "Bacterial vaginosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3385", "EFO:0003932", "MEDGEN:43118", "MESH:D016585", "NCIT:C116973", "SCTID:419760006", "UMLS:C0085166", "icd11.foundation:63323819"]}
{"category": ["biolink:Disease"], "description": "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.", "id": "MONDO:0005318", "name": "Canker sore", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aphthous ulcer", "canker sore"], "xref": ["EFO:0003938", "HP:0032154", "MEDGEN:445425", "MESH:D013281", "NCIT:C62546", "SCTID:427617000", "UMLS:C2937365"]}
{"category": ["biolink:Disease"], "description": "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.", "id": "MONDO:0005321", "name": "Fuchs' endothelial dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Endoepithelial corneal dystrophy", "FECD", "Fuchs endothelial dystrophy", "corneal dystrophy, Fuchs endothelial", "late hereditary endothelial dystrophy"], "xref": ["DOID:11555", "GARD:0010018", "MEDGEN:4800", "MESH:D005642", "NCIT:C84721", "OMIMPS:136800", "Orphanet:98974", "SCTID:193839007", "UMLS:C0016781"]}
{"category": ["biolink:Disease"], "description": "Bacterial diseases that are potentially transmitted or propagated by sexual conduct.", "id": "MONDO:0005323", "name": "Bacterial sexually transmitted disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003955", "MEDGEN:20728", "MESH:D015231", "UMLS:C0036917"]}
{"category": ["biolink:Disease"], "description": "Allergic rhinitis caused by outdoor allergens.", "id": "MONDO:0005324", "name": "Seasonal allergic rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hay fever", "seasonal allergic rhinitis"], "xref": ["EFO:0003956", "MEDGEN:42335", "MESH:D006255", "NCIT:C92188", "SCTID:367498001", "UMLS:C0018621"]}
{"category": ["biolink:Disease"], "description": "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.", "id": "MONDO:0005326", "name": "Sunburn", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003958", "ICD10CM:L55", "ICD10WHO:L55", "ICD9:692.71", "MEDGEN:1789170", "MESH:D013471", "SCTID:403194002", "UMLS:C2136733", "icd11.foundation:318744822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005327", "medic_stub": true, "name": "hip fracture", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.", "id": "MONDO:0005328", "name": "Eye disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of eye", "disease of eyeball of camera-type eye", "disease or disorder of eyeball of camera-type eye", "disorder of eye", "disorder of eyeball of camera-type eye", "eye disease", "eye disorder", "eyeball of camera-type eye disease", "eyeball of camera-type eye disease or disorder", "globe disease"], "xref": ["DOID:1242", "DOID:5614", "EFO:0003966", "ICD9:360", "ICD9:360.29", "ICD9:360.89", "ICD9:360.9", "ICD9:379.8", "ICD9:379.90", "MEDGEN:5092", "MESH:D005128", "NCIT:C26767", "SCTID:371405004", "UMLS:C0015397"]}
{"category": ["biolink:Disease"], "description": "Abnormally elevated thyroxine level in the blood.", "id": "MONDO:0005333", "name": "Hyperthyroxinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2855", "EFO:0004127", "HGNC:399", "MEDGEN:6973", "MESH:D006981", "UMLS:C0020551"]}
{"category": ["biolink:Disease"], "description": "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.", "id": "MONDO:0005334", "name": "Hereditary nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hereditary nephritis"], "xref": ["MEDGEN:10305", "MESH:D009394", "SCTID:399340005", "UMLS:C0027706"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "id": "MONDO:0005335", "name": "Colorectal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal neoplasm", "colorectal tumor", "colorectal tumour", "colorectum neoplasm", "colorectum neoplasm (disease)", "colorectum tumor", "colorectum tumour", "large bowel neoplasm", "large bowel tumor", "large bowel tumour", "large intestinal neoplasm", "large intestine neoplasm", "large intestine tumor", "large intestine tumour", "neoplasm of colorectum", "neoplasm of large bowel", "neoplasm of the large bowel", "tumor of colorectum", "tumor of large bowel", "tumor of the large bowel", "tumour of colorectum", "tumour of large bowel", "tumour of the large bowel"], "xref": ["EFO:0004142", "MEDGEN:3171", "MESH:D015179", "NCIT:C2956", "UMLS:C0009404"]}
{"category": ["biolink:Disease"], "description": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.", "id": "MONDO:0005336", "name": "Myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:423", "EFO:0004145", "ICD9:359.8", "ICD9:359.9", "ICD9:728.3", "MEDGEN:10135", "NCIT:C101216", "SCTID:129565002", "UMLS:C0026848", "icd11.foundation:1870184184"]}
{"category": ["biolink:Disease"], "description": "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.", "id": "MONDO:0005338", "name": "Open-angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["POAG", "glaucoma, primary open angle", "open angle glaucoma", "pigmentary glaucoma", "primary open angle glaucoma"], "xref": ["DOID:1067", "EFO:0004190", "ICD10CM:H40.1", "ICD9:365.1", "ICD9:365.10", "ICD9:365.13", "MEDGEN:6611", "MESH:D005902", "NCIT:C34641", "SCTID:46168003", "SCTID:84494001", "UMLS:C0017612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005339", "name": "Androgenetic alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050801", "EFO:0004191", "ICD9:704.09", "MEDGEN:56404", "SCTID:87872006", "UMLS:C0162311"]}
{"category": ["biolink:Disease"], "description": "Loss of scalp and body hair involving microscopically inflammatory patchy areas.", "id": "MONDO:0005340", "name": "Alopecia areata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["alopecia areata"], "xref": ["DOID:986", "EFO:0004192", "ICD10CM:L63", "ICD10WHO:L63", "ICD9:704.01", "MEDGEN:213", "MESH:D000506", "SCTID:68225006", "UMLS:C0002171", "icd11.foundation:65720611"]}
{"category": ["biolink:Disease"], "description": "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.", "id": "MONDO:0005341", "name": "Skin basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal cell carcinoma of skin", "basal cell carcinoma of the skin", "basal cell epithelioma", "basal cell skin carcinoma", "skin basal cell cancer", "skin basal cell carcinoma"], "xref": ["CSP:2000-2719", "DOID:2513", "HP:0002671", "ICDO:8090/3", "MEDGEN:1648304", "NCIT:C2921", "ONCOTREE:BCC", "SCTID:254701007", "UMLS:C4721806"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a specific segment of glomeruli within the kidney.", "id": "MONDO:0005342", "name": "Iga glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Berger's disease", "IgA Nephropathy", "IgA glomerulonephritis", "IgA nephropathy"], "xref": ["DOID:2986", "EFO:0004194", "GARD:0000863", "ICD9:583.9", "MEDGEN:9032", "MESH:D005922", "NANDO:1200366", "NANDO:2200121", "NCIT:C34643", "NORD:1298", "Orphanet:34145", "SCTID:68779003", "UMLS:C0017661"]}
{"category": ["biolink:Disease"], "description": "A viral infection caused by the hepatitis B virus.", "id": "MONDO:0005344", "name": "Hepatitis b virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hepatitis B", "Hepatitis B infection", "Hepatitis B virus caused hepatitis", "Hepatitis B virus hepatitis", "hepatitis B infection", "hepatitis type B", "viral Hepatitis B"], "xref": ["DOID:2043", "EFO:0004197", "ICD9:070.30", "MEDGEN:6807", "MESH:D006509", "NCIT:C3097", "SCTID:66071002", "UMLS:C0019163", "icd11.foundation:1718385802"]}
{"category": ["biolink:Disease"], "description": "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.", "id": "MONDO:0005345", "name": "Hypospadias", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar"], "synonym": ["hypospadias", "hypospadias (disease)"], "xref": ["DOID:10892", "EFO:0004209", "HP:0000047", "ICD10CM:Q54", "ICD9:752.61", "MEDGEN:163083", "MESH:D007021", "NCIT:C40341", "OMIMPS:300633", "Orphanet:440", "SCTID:416010008", "UMLS:C0848558", "icd11.foundation:810247271"]}
{"category": ["biolink:Disease"], "description": "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.", "id": "MONDO:0005346", "name": "Gallstones", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004210", "ICD9:574.20", "MEDGEN:66850", "MESH:D042882", "SCTID:235919008", "UMLS:C0242216"]}
{"category": ["biolink:Disease"], "description": "A laboratory test result indicating elevated triglyceride concentration in the blood.", "id": "MONDO:0005347", "name": "Hypertriglyceridemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypertriglyceridemia", "hypertriglyceridemia (disease)"], "xref": ["EFO:0004211", "HP:0002155", "MEDGEN:167238", "MESH:D015228", "SCTID:302870006", "UMLS:C0813230"]}
{"category": ["biolink:Disease"], "description": "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.", "id": "MONDO:0005348", "name": "Keloid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004212", "ICD9:701.4", "MEDGEN:7197", "MESH:D007627", "NCIT:C3145", "SCTID:33659008", "UMLS:C0022548", "icd11.foundation:2057714006"]}
{"category": ["biolink:Disease"], "description": "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.", "id": "MONDO:0005349", "name": "Otosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["otosclerosis", "otosclerosis (disease)"], "xref": ["DOID:12185", "EFO:0004213", "GARD:0027719", "HP:0000362", "ICD10CM:H80", "ICD10WHO:H80", "ICD9:387", "ICD9:387.8", "ICD9:387.9", "MEDGEN:10508", "MESH:D010040", "NCIT:C185242", "OMIMPS:166800", "Orphanet:2794", "SCTID:11543004", "UMLS:C0029899", "icd11.foundation:1242649410"]}
{"category": ["biolink:Disease"], "description": "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.", "id": "MONDO:0005350", "name": "Abdominal aortic aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:7693", "EFO:0004214", "MEDGEN:56524", "MESH:D017544", "SCTID:233985008", "UMLS:C0162871", "icd11.foundation:1154633768"]}
{"category": ["biolink:Disease"], "description": "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.", "id": "MONDO:0005351", "name": "Anorexia nervosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8689", "ICD10CM:F50.0", "ICD9:307.1", "MEDGEN:316", "MESH:D000856", "NCIT:C34387", "Orphanet:36297", "SCTID:56882008", "UMLS:C0003125", "icd11.foundation:263852475"]}
{"category": ["biolink:Disease"], "description": "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.", "id": "MONDO:0005352", "name": "Conduct disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12995", "EFO:0004216", "ICD9:312.89", "ICD9:312.9", "MEDGEN:56196", "MESH:D019955", "NCIT:C89329", "SCTID:430909002", "UMLS:C0149654"]}
{"category": ["biolink:Disease"], "description": "Chronic form of hepatitis C infection.", "id": "MONDO:0005354", "name": "Chronic hepatitis c virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic Hepatitis C", "hepatitis C infection, chronic", "hepatitis C, chronic"], "xref": ["EFO:0004220", "ICD9:070.44", "MESH:D019698", "icd11.foundation:1615937473"]}
{"category": ["biolink:Disease"], "description": "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.", "id": "MONDO:0005355", "name": "Coronary restenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4247", "EFO:0004224", "MEDGEN:182688", "MESH:D023903", "UMLS:C0948480"]}
{"category": ["biolink:Disease"], "description": "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.", "id": "MONDO:0005356", "name": "Coronary vasospasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11840", "EFO:0004225", "ICD9:413.9", "MEDGEN:3626", "MESH:D003329", "SCTID:23687008", "UMLS:C0010073"]}
{"category": ["biolink:Disease"], "description": "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.", "id": "MONDO:0005357", "name": "Creutzfeldt jacob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CJD", "CJD (Creutzfeldt Jakob disease)", "Creutzfeldt Jakob Disease", "Creutzfeldt-Jacob disease", "Jakob-Creutzfeldt disease", "classic Creutzfeldt-Jakob disease"], "xref": ["DOID:11949", "EFO:0004226", "GARD:0024173", "ICD9:046.1", "ICD9:046.19", "MEDGEN:7179", "MESH:D007562", "NCIT:C26802", "NORD:1014", "SCTID:792004", "UMLS:C0022336"]}
{"category": ["biolink:Disease"], "description": "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.", "id": "MONDO:0005358", "name": "Dengue hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:12206", "EFO:0004227", "GARD:0024174", "ICD10CM:A91", "MEDGEN:5506", "NCIT:C34683", "SCTID:20927009", "UMLS:C0019100"]}
{"category": ["biolink:Disease"], "description": "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.", "id": "MONDO:0005359", "name": "Drug-induced liver injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["drug induced hepatotoxicity", "drug-induced disorder of liver"], "xref": ["EFO:0004228", "MEDGEN:163652", "MESH:D056486", "SCTID:197352008", "UMLS:C0860207"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).", "id": "MONDO:0005361", "name": "Eosinophilic esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["EoE"], "xref": ["DOID:13922", "EFO:0004232", "GARD:0027720", "ICD10CM:K20.0", "ICD9:530.13", "MEDGEN:83318", "MESH:D057765", "MedDRA:10064212", "NANDO:1200456", "NCIT:C27105", "Orphanet:73247", "SCTID:235599003", "UMLS:C0341106"]}
{"category": ["biolink:Disease"], "description": "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "id": "MONDO:0005362", "name": "Erectile dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["erectile dysfunction", "erectile dysfunction (disease)", "male erectile Disorder", "sexual impotence (finding)"], "xref": ["DOID:1875", "EFO:0004234", "HP:0000802", "ICD10CM:F52.21", "MEDGEN:66879", "MESH:D007172", "NCIT:C34801", "SCTID:397803000", "UMLS:C0242350"]}
{"category": ["biolink:Disease"], "description": "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0005363", "name": "Inherited focal segmental glomerulosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024175", "NANDO:1200722", "NANDO:2200113", "OMIMPS:603278"]}
{"category": ["biolink:Disease"], "description": "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.", "id": "MONDO:0005364", "name": "Graves disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Graves disease"], "xref": ["DOID:12361", "EFO:0004237", "ICD9:242.0", "MEDGEN:6677", "MESH:D006111", "NANDO:2200328", "NCIT:C3071", "SCTID:353295004", "UMLS:C0018213"]}
{"category": ["biolink:Disease"], "description": "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.", "id": "MONDO:0005365", "name": "Hearing loss disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hearing loss", "hypoacuses", "hypoacusis", "loss of hearing", "loss, hearing"], "xref": ["EFO:0004238", "ICD10CM:H90", "ICD9:389", "ICD9:389.8", "ICD9:389.9", "MEDGEN:235586", "MESH:D034381", "NCIT:C35731", "SCTID:15188001", "UMLS:C1384666"]}
{"category": ["biolink:Disease"], "description": "Chronic form of hepatitis B infection.", "id": "MONDO:0005366", "name": "Chronic hepatitis b virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic Hepatitis B", "hepatitis B infection, chronic", "hepatitis B, chronic"], "xref": ["EFO:0004239", "MEDGEN:99834", "MESH:D019694", "UMLS:C0524909", "icd11.foundation:352087872"]}
{"category": ["biolink:Disease"], "description": "Physical and psychological dependence on the drug heroin.", "id": "MONDO:0005367", "name": "Heroin dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Heroin addiction"], "xref": ["DOID:9976", "EFO:0004240", "MEDGEN:5532", "MESH:D006556", "NCIT:C34694", "SCTID:231477003", "UMLS:C0019337", "icd11.foundation:443161089"]}
{"category": ["biolink:Disease"], "description": "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.", "id": "MONDO:0005369", "name": "Carcinoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NET G1", "carcinoid", "carcinoid tumor", "carcinoid tumor (disease)", "carcinoid tumour (disease)", "neuroendocrine neoplasm G1", "neuroendocrine tumor G1", "neuroendocrine tumour G1"], "xref": ["EFO:0004243", "GARD:0024176", "HP:0100570", "ICD9:209.60", "ICDO:8240/3", "ICDO:8241/3", "MEDGEN:2838", "MESH:D002276", "NANDO:2200396", "NCIT:C2915", "SCTID:443492008", "UMLS:C0007095"]}
{"category": ["biolink:Disease"], "description": "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.", "id": "MONDO:0005371", "name": "Mood disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3324", "EFO:0004247", "ICD10CM:F30-F39", "ICD9:296.99", "MEDGEN:99866", "MESH:D019964", "NCIT:C92200", "SCTID:46206005", "UMLS:C0525045"]}
{"category": ["biolink:Disease"], "description": "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.", "id": "MONDO:0005372", "name": "Male infertility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infertility disorder of male reproductive system", "male reproductive system infertility", "male reproductive system infertility disorder"], "xref": ["DOID:12336", "EFO:0004248", "ICD10CM:N46", "ICD10WHO:N46", "ICD9:606", "ICD9:606.9", "MEDGEN:5796", "MESH:D007248", "SCTID:2904007", "UMLS:C0021364", "icd11.foundation:753457327"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the species neisseria meningitidis.", "id": "MONDO:0005373", "name": "Meningococcal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Neisseria meningitidis infection"], "xref": ["EFO:0004249", "GARD:0009547", "ICD10CM:A39", "ICD10WHO:A39", "ICD9:036", "ICD9:036.89", "ICD9:036.9", "MEDGEN:7537", "MESH:D008589", "SCTID:23511006", "UMLS:C0025303"]}
{"category": ["biolink:Disease"], "description": "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).", "id": "MONDO:0005374", "name": "Bone marrow neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone marrow neoplasm", "bone marrow neoplasm (disease)", "bone marrow tumor", "bone marrow tumour", "neoplasm of bone marrow", "tumor of bone marrow", "tumour of bone marrow"], "xref": ["DOID:4960", "GARD:0024177", "ICD9:238.79", "MEDGEN:129203", "MESH:D019046", "NCIT:C35370", "SCTID:414824005", "UMLS:C0282609"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.", "id": "MONDO:0005375", "name": "Nasopharyngeal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nasopharyngeal neoplasms", "nasopharyngeal tumor", "nasopharyngeal tumour", "nasopharynx neoplasm", "nasopharynx neoplasm (disease)", "nasopharynx tumor", "nasopharynx tumour", "neoplasm of nasopharynx", "neoplasm of the nasopharynx", "tumor of nasopharynx", "tumor of the nasopharynx", "tumour of nasopharynx", "tumour of the nasopharynx"], "xref": ["EFO:0004252", "MEDGEN:6526", "MESH:D009303", "NCIT:C3257", "SCTID:126680004", "UMLS:C0027439"]}
{"category": ["biolink:Disease"], "description": "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.", "id": "MONDO:0005376", "name": "Membranous glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["membranous Glomerulonephropathy", "membranous nephropathy"], "xref": ["DOID:10976", "EFO:0004254", "GARD:0024178", "ICD9:582.1", "ICD9:583.1", "MEDGEN:42231", "MESH:D015433", "NANDO:1200721", "NANDO:2200114", "NCIT:C34645", "SCTID:77182004", "UMLS:C0017665"]}
{"category": ["biolink:Disease"], "description": "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.", "id": "MONDO:0005377", "name": "Nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nephrotic syndrome", "nephrotic syndromes", "syndrome, nephrotic", "syndromes, nephrotic"], "xref": ["DOID:1184", "EFO:0004255", "GARD:0027721", "ICD10CM:N04", "ICD10WHO:N04", "ICD9:581", "ICD9:581.9", "MEDGEN:10308", "MESH:D009404", "NANDO:2100009", "NCIT:C34845", "SCTID:52254009", "UMLS:C0027726", "icd11.foundation:1184209951"]}
{"category": ["biolink:Disease"], "description": "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.", "id": "MONDO:0005379", "name": "Neurotic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurosis", "neurotic disorder"], "xref": ["DOID:4964", "EFO:0004257", "ICD9:300.89", "ICD9:300.9", "MEDGEN:10334", "MESH:D009497", "NCIT:C34848", "SCTID:111475002", "UMLS:C0027932"]}
{"category": ["biolink:Disease"], "description": "A none disease characterized by death of bone tissue due to a lack of blood supply.", "id": "MONDO:0005380", "name": "Osteonecrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["bone necrosis", "ischaemic bone disease", "ischemic bone disease", "osteonecrosis"], "xref": ["DOID:0080008", "DOID:10159", "EFO:0004259", "GARD:0021657", "ICD10CM:M87", "ICD10WHO:M87", "ICD9:732.3", "ICD9:733.4", "ICD9:733.41", "ICD9:733.42", "ICD9:733.43", "ICD9:733.44", "ICD9:733.49", "MEDGEN:45249", "MESH:D010020", "NCIT:C34880", "NCIT:C35476", "NORD:1537", "Orphanet:399158", "SCTID:240196003", "UMLS:C0029445", "icd11.foundation:536467755"]}
{"category": ["biolink:Disease"], "description": "Diseases of bones.", "id": "MONDO:0005381", "name": "Bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bone element disease", "bone element disease or disorder", "disease of bone element", "disease or disorder of bone element", "disorder of bone element"], "xref": ["DOID:0080001", "EFO:0004260", "ICD10CM:M80-M85", "ICD9:731.8", "ICD9:733.99", "MEDGEN:14182", "MESH:D001847", "NANDO:2100291", "NANDO:2100293", "SCTID:76069003", "UMLS:C0005940"]}
{"category": ["biolink:Disease"], "description": "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.", "id": "MONDO:0005382", "name": "Paget disease of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Paget disease of bone", "Paget's bone disease", "Paget's disease of bone", "Paget's disease of the bone", "Pagets disease (bone)", "bone Paget disease", "bone Paget's disease", "osseous Paget's disease", "osteitis deformans"], "xref": ["DOID:5408", "EFO:0004261", "ICD10CM:M88", "MEDGEN:10493", "NCIT:C3292", "OMIMPS:167250", "Orphanet:280110", "SCTID:2089002", "UMLS:C0029401"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.", "id": "MONDO:0005383", "name": "Panic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:594", "EFO:0004262", "ICD10CM:F41.0", "ICD9:300.01", "MEDGEN:14588", "MESH:D016584", "NCIT:C34890", "SCTID:371631005", "UMLS:C0030319", "icd11.foundation:56162827"]}
{"category": ["biolink:Disease"], "description": "A seizure caused by a localized disorder.", "id": "MONDO:0005384", "name": "Focal epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["focal epilepsy", "partial epilepsy"], "xref": ["DOID:2234", "EFO:0004263", "ICD9:345.50", "MEDGEN:41836", "MESH:D004828", "NCIT:C122812", "SCTID:230381009", "UMLS:C0014547"]}
{"category": ["biolink:Disease"], "description": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.", "id": "MONDO:0005385", "name": "Vascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of vasculature", "disease or disorder of vasculature", "disorder of vasculature", "vascular disorder", "vasculature disease", "vasculature disease or disorder"], "xref": ["DOID:178", "EFO:0004264", "ICD10CM:I00-I99", "ICD10CM:I70-I79", "ICD9:442.9", "MEDGEN:22621", "MESH:D014652", "NANDO:2100294", "NCIT:C35117", "SCTID:27550009", "UMLS:C0042373"]}
{"category": ["biolink:Disease"], "description": "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.", "id": "MONDO:0005386", "name": "Peripheral arterial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PAD", "pad", "peripheral arterial disorder"], "xref": ["DOID:0050830", "EFO:0004265", "ICD9:443.81", "MEDGEN:352846", "MESH:D058729", "NCIT:C84496", "SCTID:399957001", "UMLS:C1704436", "icd11.foundation:1821859817"]}
{"category": ["biolink:Disease"], "description": "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.", "id": "MONDO:0005387", "name": "Primary ovarian failure", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["primary ovarian failure"], "xref": ["DOID:5426", "EFO:0004266", "ICD10CM:E28.3", "ICD9:253.4", "ICD9:256.39", "MEDGEN:38820", "MESH:D016649", "NANDO:2100139", "NCIT:C113352", "Orphanet:619", "SCTID:370999003", "SCTID:65846009", "UMLS:C0085215"]}
{"category": ["biolink:Disease"], "description": "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.", "id": "MONDO:0005388", "name": "Primary biliary cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hanot syndrome", "PBC", "chronic non-suppurative destructive cholangitis", "chronic nonsuppurative destructive cholangitis", "primary Bilary cirrhosis (PBC)", "primary biliary cirrhosis"], "xref": ["DOID:12236", "EFO:1001486", "GARD:0007459", "ICD10CM:K74.3", "ICD9:571.6", "MEDGEN:3035", "MESH:D008105", "MedDRA:10004661", "MedDRA:10019137", "NANDO:1200439", "NCIT:C27167", "NORD:1604", "OMIMPS:109720", "Orphanet:186", "SCTID:31712002", "UMLS:C0008312", "icd11.foundation:649193479"]}
{"category": ["biolink:Disease"], "description": "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.", "id": "MONDO:0005391", "name": "Restless legs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["restless leg syndrome"], "xref": ["DOID:0050425", "EFO:0004270", "ICD10CM:G25.81", "ICD9:333.94", "ICD9:333.99", "MEDGEN:48427", "MESH:D012148", "NCIT:C84501", "SCTID:32914008", "UMLS:C0035258", "icd11.foundation:1254916765"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired spinal deformity characterized by lateral curvature of the spine.", "id": "MONDO:0005392", "name": "Scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060249", "EFO:0004273", "HP:0002650", "ICD10CM:M41", "ICD10WHO:M41", "ICD9:737.43", "MEDGEN:11348", "MESH:D012600", "NCIT:C78603", "SCTID:298382003", "UMLS:C0036439", "icd11.foundation:1925604007"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.", "id": "MONDO:0005393", "name": "Gout", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gout", "gouty arthropathy"], "xref": ["DOID:13189", "EFO:0004274", "ICD10CM:M10", "ICD9:274", "ICD9:274.0", "ICD9:274.00", "ICD9:274.9", "MEDGEN:42280", "MESH:D006073", "NCIT:C34650", "SCTID:190828008", "UMLS:C0018099", "icd11.foundation:395622227"]}
{"category": ["biolink:Disease"], "description": "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.", "id": "MONDO:0005394", "name": "Brain infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["DOID:3454", "EFO:0004277", "MEDGEN:148426", "MESH:D020520", "UMLS:C0751955"]}
{"category": ["biolink:Disease"], "description": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.", "id": "MONDO:0005395", "name": "Movement disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["movement disease", "movement disorder", "movement disorders"], "xref": ["DOID:480", "EFO:0004280", "ICD9:333.90", "ICD9:333.99", "MEDGEN:10113", "MESH:D009069", "NCIT:C116757", "SCTID:60342002", "UMLS:C0026650"]}
{"category": ["biolink:Disease"], "description": "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.", "id": "MONDO:0005396", "name": "Thoracic aortic aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14004", "EFO:0004282", "MEDGEN:56525", "MESH:D017545", "SCTID:433068007", "UMLS:C0162872", "icd11.foundation:1383534118"]}
{"category": ["biolink:Disease"], "description": "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.", "id": "MONDO:0005397", "name": "Goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Thyromegaly", "goiter", "goiter (disease)", "goitre (disease)"], "xref": ["DOID:12176", "EFO:0004283", "HP:0000853", "ICD9:240.9", "MEDGEN:42270", "MESH:D006042", "NCIT:C26785", "SCTID:3716002", "UMLS:C0018021"]}
{"category": ["biolink:Disease"], "description": "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)", "id": "MONDO:0005398", "name": "Upper aerodigestive tract neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004284", "ICD9:239.89", "MEDGEN:164664", "SCTID:439361000", "UMLS:C0887900"]}
{"category": ["biolink:Disease"], "description": "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.", "id": "MONDO:0005399", "name": "Venous thromboembolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["venous thromboembolism"], "xref": ["EFO:0004286", "MEDGEN:348285", "MESH:D054556", "NCIT:C99537", "UMLS:C1861172", "icd11.foundation:1197943614"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "id": "MONDO:0005401", "name": "Colonic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon neoplasm", "colon neoplasm (disease)", "colon tumor", "colon tumour", "colonic neoplasm", "colonic tumor", "colonic tumour", "neoplasm of colon", "neoplasm of the colon", "tumor of colon", "tumor of the colon", "tumour of colon", "tumour of the colon"], "xref": ["EFO:0004288", "MEDGEN:3165", "MESH:D003110", "NCIT:C2953", "UMLS:C0009375"]}
{"category": ["biolink:Disease"], "description": "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.", "id": "MONDO:0005402", "name": "Lymphoid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leukemia, LYMPHOCYTIC, malignant", "lymphocytic leukemia", "lymphogenous leukaemia", "lymphogenous leukemia", "lymphoid leukaemia (disease)", "lymphoid leukemia", "lymphoid leukemia (disease)", "subacute lymphoid leukaemia", "subacute lymphoid leukemia"], "xref": ["DOID:1037", "DOID:10747", "EFO:0004289", "GARD:0024179", "HP:0005526", "ICD10CM:C91", "ICD9:204", "ICD9:204.2", "ICD9:204.20", "ICDO:981-983", "ICDO:9820/3", "MEDGEN:9728", "MESH:D007945", "NCIT:C7539", "SCTID:188726003", "UMLS:C0023448"]}
{"category": ["biolink:Disease"], "description": "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.", "id": "MONDO:0005404", "name": "Myalgic encephalomeyelitis/chronic fatigue syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CFS", "chronic fatigue immune dysfunction syndrome", "chronic fatigue syndrome", "myalgic encephalitis", "myalgic encephalomyelitis", "systemic exertion intolerance disease"], "xref": ["DOID:8544", "EFO:0004540", "ICD9:780.71", "ICD9:780.79", "MEDGEN:5130", "MESH:D015673", "NCIT:C3037", "Orphanet:1983", "SCTID:51771007", "UMLS:C0015674"]}
{"category": ["biolink:Disease"], "description": "Asthma that starts in childhood.", "id": "MONDO:0005405", "name": "Childhood onset asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["asthma of childhood", "childhood asthma", "paediatric asthma", "pediatric asthma"], "xref": ["DOID:0080815", "MEDGEN:538550", "SCTID:233678006", "UMLS:C0264408"]}
{"category": ["biolink:Disease"], "description": "Carbohydrate intolerance first diagnosed during pregnancy.", "id": "MONDO:0005406", "name": "Gestational diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diabetes in pregnancy", "gestational diabetes mellitus", "maternal gestational diabetes mellitus"], "xref": ["DOID:11714", "EFO:0004593", "ICD10CM:O24.4", "MEDGEN:38815", "MESH:D016640", "NCIT:C34942", "SCTID:11687002", "UMLS:C0085207", "icd11.foundation:1320503631"]}
{"category": ["biolink:Disease"], "description": "An eosinophilic esophagitis that starts in childhood.", "id": "MONDO:0005407", "name": "Childhood eosinophilic esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eosinophilic esophagitis of childhood", "paediatric eosinophilic esophagitis", "pediatric eosinophilic esophagitis"], "xref": ["GARD:0024180"]}
{"category": ["biolink:Disease"], "description": "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism", "id": "MONDO:0005408", "name": "Diabetes mellitus type 2 associated cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004596", "MEDGEN:739998", "UMLS:C1720171"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the gall bladder", "id": "MONDO:0005411", "name": "Gallbladder cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancer of gall bladder", "gall bladder cancer", "malignant gall bladder neoplasm", "malignant gallbladder neoplasm", "malignant gallbladder tumor", "malignant gallbladder tumour", "malignant neoplasm of gall bladder", "malignant neoplasm of gallbladder", "malignant neoplasm of the gallbladder", "malignant tumor of gallbladder", "malignant tumor of the gallbladder", "malignant tumour of gallbladder", "malignant tumour of the gallbladder"], "xref": ["DOID:3121", "GARD:0009328", "ICD10CM:C23", "ICD9:156.0", "ICD9:156.8", "MEDGEN:57784", "NCIT:C7481", "ONCOTREE:GBC", "SCTID:363353009", "UMLS:C0153452", "icd11.foundation:922082116"]}
{"category": ["biolink:Disease"], "description": "An ulcer in the duodenal wall.", "id": "MONDO:0005412", "name": "Duodenal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duodenal ulcer (disease)"], "xref": ["DOID:1724", "EFO:0004607", "HP:0002588", "ICD10CM:K26", "ICD10WHO:K26", "ICD9:532", "MEDGEN:41670", "MESH:D004381", "NCIT:C26755", "SCTID:39755000", "UMLS:C0013295", "icd11.foundation:553678663"]}
{"category": ["biolink:Disease"], "description": "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.", "id": "MONDO:0005413", "name": "Cystic fibrosis associated meconium ileus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_perinatal_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystic fibrosis associated meconium ileum"], "xref": ["EFO:0004608", "MEDGEN:639765", "UMLS:C0546982"]}
{"category": ["biolink:Disease"], "description": "Schizophrenia which does not respond to commonly used treatments.", "id": "MONDO:0005414", "name": "Treatment-refractory schizophrenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["refractory schizophrenia", "treatment-refractory schizophrenia"], "xref": ["EFO:0004609", "MEDGEN:1786789", "UMLS:C3544321"]}
{"category": ["biolink:Disease"], "description": "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)", "id": "MONDO:0005416", "name": "Osteoarthritis, knee", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004616", "MEDGEN:98371", "MESH:D020370", "UMLS:C0409959"]}
{"category": ["biolink:Disease"], "description": "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.", "id": "MONDO:0005417", "name": "Wet macular degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["exudative senile macular degeneration of retina", "wet AMD", "wet ARMD", "wet age related macular degeneration"], "xref": ["DOID:10873", "EFO:0004683", "GARD:0024181", "ICD9:362.52", "MEDGEN:389185", "MESH:D057135", "SCTID:414173003", "UMLS:C2237660"]}
{"category": ["biolink:Disease"], "description": "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.", "id": "MONDO:0005418", "name": "Non-compaction cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0004686", "GARD:0024182", "MEDGEN:1843481", "UMLS:C4324548"]}
{"category": ["biolink:Disease"], "description": "A drug dependence that is a psychological dependency on the regular use of methamphetamine.", "id": "MONDO:0005419", "name": "Methamphetamine dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0004701", "MEDGEN:735816", "UMLS:C1533217"]}
{"category": ["biolink:Disease"], "description": "Abnormally low levels of thyroid hormone.", "id": "MONDO:0005420", "name": "Hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypothyroidism", "underactive thyroid"], "xref": ["DOID:1459", "EFO:0004705", "ICD9:244.9", "MEDGEN:6991", "MESH:D007037", "NANDO:2100120", "NCIT:C26800", "SCTID:40930008", "UMLS:C0020676", "icd11.foundation:1722092627"]}
{"category": ["biolink:Disease"], "description": "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.", "id": "MONDO:0005424", "name": "Elephantiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4976", "EFO:0004711", "MEDGEN:8582", "MESH:D004604", "UMLS:C0013882"]}
{"category": ["biolink:Disease"], "description": "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.", "id": "MONDO:0005425", "name": "Podoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["elephantiasis from soil", "non-filarial elephantiasis", "nonfilarial elephantiasis", "soil elephantiasis"], "xref": ["DOID:0050138", "EFO:0004712", "ICD9:457.1", "MEDGEN:473377", "SCTID:47595008", "UMLS:C1280469"]}
{"category": ["biolink:Disease"], "description": "An infarct detected by MRI and not determined to be clinically significant", "id": "MONDO:0005426", "name": "Mri defined brain infarct", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.", "id": "MONDO:0005429", "name": "Prion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spongiform encephalopathy"], "xref": ["DOID:649", "EFO:0004720", "GARD:0024183", "ICD9:046.19", "MEDGEN:56445", "MESH:D017096", "NANDO:1200186", "NCIT:C128346", "SCTID:230284004", "UMLS:C0162534"]}
{"category": ["biolink:Disease"], "description": "A form of hypertension with early onset relative to normal range for a given population.", "id": "MONDO:0005430", "name": "Early onset hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0004772"]}
{"category": ["biolink:Disease"], "description": "A drug dependence that is the physiological result of being addicted to alcohol and nicotine.", "id": "MONDO:0005432", "name": "Alcohol and nicotine codependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005433", "name": "Alcohol withdrawal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcohol withdrawal syndrome"], "xref": ["EFO:0004777", "ICD9:291.81", "MEDGEN:536543", "SCTID:191480000", "UMLS:C0236663", "icd11.foundation:998231424"]}
{"category": ["biolink:Disease"], "description": "The response of human skin to sun exposure.", "id": "MONDO:0005434", "name": "Skin sensitivity to sun", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0004795", "MEDGEN:87601", "UMLS:C0349506"]}
{"category": ["biolink:Disease"], "description": "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.", "id": "MONDO:0005435", "name": "Anti-neutrophil antibody associated vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0004826"]}
{"category": ["biolink:Disease"], "description": "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.", "id": "MONDO:0005436", "name": "Postoperative ventricular dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.", "id": "MONDO:0005437", "name": "Testicular dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0004893", "GARD:0024185", "MEDGEN:754060", "NANDO:2200383", "SCTID:445338005", "UMLS:C2919755"]}
{"category": ["biolink:Disease"], "description": "The spread of a malignant neoplasm to the lymph nodes.", "id": "MONDO:0005438", "name": "Metastatic malignant neoplasm in the lymph nodes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Metastases to lymph nodes", "metastasis to lymph node", "metastatic malignant neoplasm to the lymph nodes", "metastatic neoplasm to the lymph node", "metastatic tumor to lymph node", "metastatic tumour to lymph node"], "xref": ["EFO:0004906", "GARD:0024186", "MEDGEN:151947", "NCIT:C4904", "UMLS:C0686619"]}
{"category": ["biolink:Disease"], "description": "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.", "id": "MONDO:0005439", "name": "Familial hypercholesterolemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hyperlipoproteinemia type II"], "xref": ["DOID:13810", "EFO:0004911", "ICD10CM:E78.01", "ICD9:V19.8", "MEDGEN:5688", "NANDO:2200602", "NCIT:C34704", "OMIMPS:143890", "SCTID:190773008", "UMLS:C0020445"]}
{"category": ["biolink:Disease"], "description": "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).", "id": "MONDO:0005440", "name": "Embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma, embryonal, malignant", "embryonal carcinoma"], "xref": ["DOID:3308", "EFO:0004986", "GARD:0005140", "ICDO:9070/3", "MEDGEN:61653", "MESH:D018236", "NANDO:2200067", "NCIT:C3752", "ONCOTREE:EMBCA", "Orphanet:180226", "UMLS:C0206659"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.", "id": "MONDO:0005441", "name": "Otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of middle ear", "medial otitis", "middle Ear Inflammation", "middle ear inflammation", "otitis Media", "otitis media (disease)"], "xref": ["DOID:10754", "EFO:0004992", "HP:0000388", "ICD9:382.9", "MEDGEN:45253", "MESH:D010033", "NCIT:C34885", "SCTID:65363002", "UMLS:C0029882", "icd11.foundation:1079654421"]}
{"category": ["biolink:Disease"], "description": "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.", "id": "MONDO:0005445", "name": "Visceral leishmaniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["kala-azar", "viscus leishmaniasis"], "xref": ["DOID:9146", "EFO:0005045", "GARD:0024188", "ICD10CM:B55.0", "ICD9:085.0", "MEDGEN:44098", "MESH:D007898", "NCIT:C34771", "OMIMPS:608207", "SCTID:186803007", "UMLS:C0023290", "icd11.foundation:1646564717"]}
{"category": ["biolink:Disease"], "description": "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.", "id": "MONDO:0005446", "name": "Cutaneous leishmaniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Asian desert cutaneous leishmaniasis", "zone of skin leishmaniasis"], "xref": ["DOID:9111", "EFO:0005046", "GARD:0024189", "ICD10CM:B55.1", "ICD9:085.2", "MEDGEN:9715", "MESH:D016773", "NCIT:C34768", "NCIT:C34770", "SCTID:186807008", "UMLS:C0023283", "icd11.foundation:124737785"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.", "id": "MONDO:0005447", "name": "Testicular cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of testis", "malignant neoplasm of testis", "malignant neoplasm of the testis", "malignant testicular neoplasm", "malignant testicular tumor", "malignant testicular tumour", "malignant testis neoplasm", "malignant tumor of testis", "malignant tumor of the testis", "malignant tumour of testis", "malignant tumour of the testis", "testis cancer"], "xref": ["DOID:2998", "EFO:0005088", "ICD10CM:C62", "ICD9:186", "ICD9:186.9", "MEDGEN:56313", "MESH:D013736", "NCIT:C7251", "SCTID:363449006", "UMLS:C0153594"]}
{"category": ["biolink:Disease"], "description": "Liver injury resulting from hepatitis C infection.", "id": "MONDO:0005448", "name": "Hepatitis c induced liver cirrhosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005129", "MEDGEN:1674707", "UMLS:C4763867"]}
{"category": ["biolink:Disease"], "description": "A disease involving the conducting system of heart.", "id": "MONDO:0005449", "name": "Conduction system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conducting system of heart disease", "conducting system of heart disease or disorder", "disease of conducting system of heart", "disease or disorder of conducting system of heart", "disorder of conducting system of heart"], "xref": ["EFO:0005137", "MEDGEN:412576", "UMLS:C2748542"]}
{"category": ["biolink:Disease"], "description": "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.", "id": "MONDO:0005451", "name": "Eating disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eating disorder", "feeding and eating disorder"], "xref": ["DOID:8670", "EFO:0005203", "ICD9:307.50", "ICD9:307.59", "MEDGEN:4434", "NCIT:C89332", "SCTID:72366004", "UMLS:C0013473"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.", "id": "MONDO:0005452", "name": "Bulimia nervosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bulimia", "hyperorexia nervosa"], "xref": ["DOID:12129", "EFO:0005204", "ICD10CM:F50.2", "ICD9:307.51", "MEDGEN:389218", "MESH:D052018", "NCIT:C34440", "SCTID:78004001", "UMLS:C2267227", "icd11.foundation:509381842"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.", "id": "MONDO:0005453", "name": "Congenital heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital anomaly of heart", "congenital heart defect", "congenital heart defects"], "xref": ["DOID:1682", "EFO:0005207", "ICD9:746.84", "ICD9:746.89", "ICD9:746.9", "MEDGEN:57501", "MESH:D006330", "NCIT:C95834", "SCTID:13213009", "UMLS:C0152021", "icd11.foundation:2004408087"]}
{"category": ["biolink:Disease"], "description": "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.", "id": "MONDO:0005454", "name": "Lung neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung NET", "lung neuroendocrine neoplasm", "lung neuroendocrine tumor", "lung neuroendocrine tumor, well differentiated, low or intermediate grade", "lung neuroendocrine tumour", "neuroendocrine neoplasm of lung", "neuroendocrine neoplasm of the lung", "pulmonary neuroendocrine neoplasm"], "xref": ["DOID:5410", "EFO:0005220", "GARD:0024190", "ICD9:209.61", "MEDGEN:277303", "NCIT:C5670", "ONCOTREE:LNET", "SCTID:707594002", "UMLS:C1334452"]}
{"category": ["biolink:Disease"], "description": "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.", "id": "MONDO:0005459", "name": "Human african trypanosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Africam sleeping sickness", "African trypanosomiasis", "sleeping sickness"], "xref": ["DOID:10112", "EFO:0005225", "GARD:0007826", "ICD9:086.5", "MEDGEN:21714", "MESH:D014353", "MedDRA:10001461", "NCIT:C84541", "Orphanet:3385", "SCTID:27031003", "UMLS:C0041228"]}
{"category": ["biolink:Disease"], "description": "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.", "id": "MONDO:0005460", "name": "Swine influenza", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["H1N1 Influenza", "H1N1 Virus infection", "H1N1 flu", "Influenza A (H1N1)", "Influenza A (H1N1) Virus infection", "Swine influenza virus caused influenza", "Swine influenza virus influenza", "swine flu"], "xref": ["DOID:0050211", "EFO:0005226", "MEDGEN:1385137", "NCIT:C80444", "SCTID:442696006", "UMLS:C0276357"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.", "id": "MONDO:0005461", "name": "Endometrium adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of endometrium", "adenocarcinoma of the endometrium", "adenocarcinoma, endometrial, malignant", "endometrial adenocarcinoma", "endometrioid adenoma or carcinoma NOS (morphologic abnormality)", "endometrioid adenomas and carcinomas (morphologic abnormality)", "endometrium adenocarcinoma"], "xref": ["DOID:2870", "EFO:0005232", "MEDGEN:218862", "NCIT:C7359", "UMLS:C1153706"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.", "id": "MONDO:0005462", "name": "Primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PNET", "neuroectodermal neoplasm", "neuroectodermal tumor", "neuroectodermal tumour", "primitive neuroectodermal neoplasm", "primitive neuroectodermal tumor", "primitive neuroectodermal tumor (PNET)", "primitive neuroectodermal tumour (PNET)"], "xref": ["DOID:171", "EFO:0005235", "ICDO:9473/3", "ICDO:9503/3", "MEDGEN:64627", "MESH:D017599", "NCIT:C3716", "ONCOTREE:PNET", "UMLS:C0206663"]}
{"category": ["biolink:Disease"], "description": "Calcification of the aortic valve", "id": "MONDO:0005463", "name": "Aortic valve calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aortic valve calcification", "aortic valve calcification (disease)"], "xref": ["EFO:0005239", "HP:0004380", "MEDGEN:140899", "SCTID:250978003", "UMLS:C0428791"]}
{"category": ["biolink:Disease"], "description": "Retinal detachment secondary to retinal tear or break.", "id": "MONDO:0005464", "name": "Rhegmatogenous retinal detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005240", "ICD10CM:H33.0", "MEDGEN:489829", "NCIT:C118755", "SCTID:19620000", "UMLS:C0271055"]}
{"category": ["biolink:Disease"], "description": "Abnormal mental state resulting from an abuse of methamphetamine", "id": "MONDO:0005465", "name": "Methamphetamine-induced psychosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0005242"]}
{"category": ["biolink:Disease"], "description": "A sleep disorder characterized by excessive sleepiness.", "id": "MONDO:0005466", "name": "Hypersomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypersomnia", "hypersomnia (disease)"], "xref": ["EFO:0005246", "HP:0100786", "ICD10CM:G47.1", "ICD9:780.54", "MEDGEN:214588", "NCIT:C78346", "SCTID:77692006", "UMLS:C0917799"]}
{"category": ["biolink:Disease"], "description": "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.", "id": "MONDO:0005467", "name": "Occupation-related stress disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:636163", "SCTID:10586006", "UMLS:C0520683", "Wikipedia:Occupational_stress"]}
{"category": ["biolink:Disease"], "description": "Blood pressure that is abnormally low.", "id": "MONDO:0005468", "name": "Hypotensive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypotension", "hypotension (disease)"], "xref": ["EFO:0005251", "HP:0002615", "ICD10CM:I95", "ICD9:458", "ICD9:458.8", "ICD9:458.9", "MEDGEN:5715", "MESH:D007022", "SCTID:45007003", "UMLS:C0020649", "icd11.foundation:1663360295"]}
{"category": ["biolink:Disease"], "description": "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.", "id": "MONDO:0005469", "name": "Orthostatic hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["orthostatic hypotension", "orthostatic hypotension (disease)"], "xref": ["EFO:0005252", "HP:0001278", "ICD10CM:I95.1", "ICD9:458.0", "MEDGEN:43803", "SCTID:28651003", "UMLS:C0020651", "icd11.foundation:56009591"]}
{"category": ["biolink:Disease"], "description": "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.", "id": "MONDO:0005470", "name": "Postprandial hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal", "id": "MONDO:0005471", "name": "Neurally mediated hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.", "id": "MONDO:0005473", "name": "Temporomandibular joint disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["TMD"], "xref": ["EFO:0005279", "ICD9:524.60", "ICD9:524.69", "MEDGEN:21092", "MESH:D013705", "NCIT:C63709", "SCTID:41888000", "UMLS:C0039494"]}
{"category": ["biolink:Disease"], "description": "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.", "id": "MONDO:0005475", "name": "Migraine with aura", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:10024", "HP:0002077", "ICD10CM:G43.1", "ICD9:346.0", "ICD9:346.00", "MEDGEN:57822", "MESH:D020325", "NCIT:C117005", "SCTID:4473006", "UMLS:C0154723", "icd11.foundation:525744634"]}
{"category": ["biolink:Disease"], "description": "A disease involving the atrioventricular node.", "id": "MONDO:0005476", "name": "Atrioventricular node disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrioventricular node disease", "atrioventricular node disease or disorder", "disease of atrioventricular node", "disease or disorder of atrioventricular node", "disorder of atrioventricular node"], "xref": ["EFO:0005305", "MEDGEN:477944", "UMLS:C3276314"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)", "id": "MONDO:0005477", "name": "Ventricular tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005306", "ICD10CM:I47.2", "MEDGEN:12068", "MESH:D017180", "NANDO:2100049", "NCIT:C50802", "SCTID:25569003", "UMLS:C0042514", "icd11.foundation:1171837620"]}
{"category": ["biolink:Disease"], "description": "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.", "id": "MONDO:0005478", "name": "Torsades de pointes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005307", "HP:0001664", "MEDGEN:21214", "MESH:D016171", "SCTID:31722008", "UMLS:C0040479"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)", "id": "MONDO:0005479", "name": "Atrial tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005308", "ICD9:427.89", "MEDGEN:107485", "NANDO:2200218", "NCIT:C35481", "SCTID:276796006", "UMLS:C0546959"]}
{"category": ["biolink:Disease"], "description": "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.", "id": "MONDO:0005480", "name": "Contact dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["contact dermatitis"], "xref": ["DOID:2773", "EFO:0005319", "ICD9:692.89", "ICD9:692.9", "MEDGEN:8329", "MESH:D003877", "NCIT:C26743", "SCTID:40275004", "UMLS:C0011616"]}
{"category": ["biolink:Disease"], "description": "A form of allergic contact dermatitis that results from exposure to nickel", "id": "MONDO:0005481", "name": "Contact dermatitis due to nickel", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:671387", "SCTID:93419003", "UMLS:C0684345"]}
{"category": ["biolink:Disease"], "description": "Hair loss as a result of chemotherapy treatment.", "id": "MONDO:0005483", "name": "Chemotherapy-induced alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0005400", "GARD:0024192", "MEDGEN:1720394", "NCIT:C164162", "UMLS:C5236021"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.", "id": "MONDO:0005484", "name": "Colorectal adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of large bowel", "adenoma of large intestine", "adenoma of the large bowel", "adenoma of the large intestine", "colorectal adenoma", "colorectum adenoma", "large bowel adenoma"], "xref": ["DOID:0050860", "DOID:0050914", "EFO:0005406", "MEDGEN:224904", "NCIT:C5673", "SCTID:399432003", "UMLS:C1302401"]}
{"category": ["biolink:Disease"], "description": "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.", "id": "MONDO:0005485", "name": "Psychotic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["psychosis"], "xref": ["DOID:2468", "EFO:0005407", "HP:0000709", "ICD9:298.8", "ICD9:298.9", "MEDGEN:19568", "NCIT:C78576", "SCTID:69322001", "UMLS:C0033975"]}
{"category": ["biolink:Disease"], "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "id": "MONDO:0005486", "name": "Tooth agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypodontia", "selective tooth agenesis", "tooth agenesis, selective"], "xref": ["DOID:0050591", "EFO:0005410", "ICD10CM:K00.0", "ICD9:520.0", "MEDGEN:43794", "OMIMPS:106600", "Orphanet:2227", "Orphanet:99798", "SCTID:64969001", "UMLS:C0020608", "icd11.foundation:1559717619"]}
{"category": ["biolink:Disease"], "description": "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.", "id": "MONDO:0005487", "name": "Schizoaffective disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:5418", "EFO:0005411", "ICD9:295.7", "MEDGEN:11334", "NCIT:C94378", "UMLS:C0036337", "icd11.foundation:106339515"]}
{"category": ["biolink:Disease"], "description": "A scoliosis with no known cause arising in adolescent.", "id": "MONDO:0005488", "name": "Adolescent idiopathic scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005423", "MEDGEN:450543", "Orphanet:3153", "SCTID:203646004", "UMLS:C0410702"]}
{"category": ["biolink:Disease"], "description": "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.", "id": "MONDO:0005489", "name": "Dyslexia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dyslexia", "dyslexia (disease)"], "xref": ["DOID:4428", "EFO:0005424", "HP:0010522", "MEDGEN:96906", "MESH:D004410", "NCIT:C96410", "UMLS:C0476254", "icd11.foundation:1843588689"]}
{"category": ["biolink:Disease"], "description": "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.", "id": "MONDO:0005490", "name": "Large artery stroke", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "xref": ["EFO:0005524"]}
{"category": ["biolink:Disease"], "description": "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.", "id": "MONDO:0005491", "name": "Chagas cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Trypanosoma cruzi cardiomyopathy", "Trypanosoma cruzi caused cardiomyopathy"], "xref": ["EFO:0005529", "GARD:0024193", "ICD9:086.0", "MEDGEN:868", "MESH:D002598", "SCTID:998008", "UMLS:C0007930"]}
{"category": ["biolink:Disease"], "description": "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.", "id": "MONDO:0005492", "name": "Urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hives", "urticaria", "urticaria (disease)"], "xref": ["DOID:1555", "EFO:0005531", "HP:0001025", "ICD10CM:L50", "ICD10WHO:L50", "ICD9:708", "ICD9:708.8", "ICD9:708.9", "MEDGEN:22587", "MESH:D014581", "NCIT:C3432", "SCTID:126485001", "UMLS:C0042109"]}
{"category": ["biolink:Disease"], "description": "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event", "id": "MONDO:0005493", "name": "Carbon monoxide-induced delayed encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_poisoning", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:rare"], "synonym": ["delayed encephalopathy after acute carbon monoxide poisoning", "delayed encephalopathy in patients with acute carbon monoxide poisoning"]}
{"category": ["biolink:Disease"], "description": "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).", "id": "MONDO:0005494", "name": "Triple-negative breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["triple-negative breast cancer", "triple-negative breast carcinoma", "triple-receptor negative breast cancer"], "xref": ["DOID:0060081", "EFO:0005537", "MEDGEN:1649548", "MESH:D064726", "NCIT:C71732", "SCTID:706970001", "UMLS:C4722518"]}
{"category": ["biolink:Disease"], "description": "A disease involving the adrenal gland.", "id": "MONDO:0005495", "name": "Adrenal gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adrenal gland disease", "adrenal gland disease or disorder", "adrenal gland diseases", "adrenal gland disorder", "adrenal gland disorders", "disease of adrenal gland", "disease or disorder of adrenal gland", "disorder of adrenal gland"], "xref": ["DOID:9553", "EFO:0005539", "ICD9:255", "ICD9:255.8", "ICD9:255.9", "MEDGEN:892577", "MESH:D000307", "NCIT:C26690", "SCTID:30171000", "UMLS:C4021794"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the bile duct", "id": "MONDO:0005496", "name": "Bile duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bile duct cancer (including cholangiocarcinoma)", "bile duct carcinoma", "carcinoma of bile duct"], "xref": ["DOID:4897", "EFO:0005540", "GARD:0024194", "MEDGEN:152840", "NCIT:C27814", "UMLS:C0740277"]}
{"category": ["biolink:Disease"], "description": "A disease involving the bone development.", "id": "MONDO:0005497", "name": "Bone development disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bone development disease", "bone development disease or disorder", "disease of bone development", "disease or disorder of bone development", "disorder of bone development"], "xref": ["DOID:0080006", "EFO:0005541", "MEDGEN:2309", "SCTID:371521007", "UMLS:C0005941"]}
{"category": ["biolink:Disease"], "description": "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.", "id": "MONDO:0005498", "name": "Botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["botulism", "botulism poisoning"], "xref": ["CSP:5000-0060", "DOID:11976", "EFO:0005542", "GARD:0000943", "MEDGEN:14204", "MESH:D001906", "MedDRA:10006041", "NCIT:C84599", "NORD:867", "Orphanet:1267", "SCTID:398565003", "UMLS:C0006057", "icd11.foundation:78422942"]}
{"category": ["biolink:Disease"], "description": "A malignant glioma that involves the brain.", "id": "MONDO:0005499", "name": "Brain glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain malignant glioma", "malignant glioma of brain"], "xref": ["DOID:0060108", "GARD:0024195", "MEDGEN:91163", "NCIT:C162993", "SCTID:254937005", "UMLS:C0349661"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.", "id": "MONDO:0005500", "name": "Congenital disorder of glycosylation type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital disorders of glycosylation, type I"], "xref": ["DOID:0050570", "EFO:0005545", "GARD:0024196", "MEDGEN:1684618", "OMIMPS:212065", "UMLS:C4700504"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.", "id": "MONDO:0005501", "name": "Congenital disorder of glycosylation type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital disorder of glycosylation type II", "congenital disorders of glycosylation, type II"], "xref": ["DOID:0050571", "EFO:0005546", "GARD:0024197", "MEDGEN:1812737", "MESH:C535747", "OMIMPS:212066", "UMLS:C5574948"]}
{"category": ["biolink:Disease"], "description": "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).", "id": "MONDO:0005502", "name": "Dengue disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DF", "Dengue", "Dengue fever", "Dengue virus caused disease or disorder", "Dengue virus disease or disorder", "Dengue virus infection", "Dengue virus infectious disease", "break bone fever"], "xref": ["DOID:12205", "EFO:0005547", "GARD:0006254", "ICD10CM:A90", "ICD9:061", "MEDGEN:3721", "MESH:D003715", "MedDRA:10012310", "NCIT:C34528", "Orphanet:99828", "SCTID:38362002", "UMLS:C0011311"]}
{"category": ["biolink:Disease"], "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "id": "MONDO:0005503", "name": "Developmental disorder of mental health", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["developmental disorder of mental health"], "xref": ["DOID:0060037", "EFO:0005548", "ICD9:315.8", "MEDGEN:688110", "SCTID:129104009", "UMLS:C1263839"]}
{"category": ["biolink:Disease"], "description": "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.", "id": "MONDO:0005504", "name": "Diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:11405", "EFO:0005549", "GARD:0001875", "ICD10CM:A36", "ICD10WHO:A36", "ICD9:032", "ICD9:032.9", "MEDGEN:4334", "MESH:D004165", "MedDRA:10013023", "NCIT:C34541", "Orphanet:1679", "SCTID:397428000", "UMLS:C0012546", "icd11.foundation:508032285"]}
{"category": ["biolink:Disease"], "description": "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B", "id": "MONDO:0005505", "name": "Dysembryoplastic neuroepithelial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNET", "DNT", "dysembryoplastic neuroepithelial neoplasm", "dysembryoplastic neuroepithelial tumor (morphologic abnormality)", "dysembryoplastic neuroepithelial tumour (morphologic abnormality)"], "xref": ["DOID:2679", "EFO:0005551", "GARD:0010640", "ICDO:9413/0", "MEDGEN:266109", "NCIT:C9505", "ONCOTREE:DNT", "Orphanet:251946", "SCTID:87211000119104", "UMLS:C1266177"]}
{"category": ["biolink:Disease"], "description": "An cancer with eccrine differentiation arising from the sweat glands.B", "id": "MONDO:0005506", "name": "Eccrine sweat gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of eccrine sweat gland", "eccrine sweat gland cancer", "malignant eccrine neoplasm", "malignant eccrine neoplasm of skin", "malignant eccrine neoplasm of the skin", "malignant eccrine skin neoplasm", "malignant eccrine skin tumor", "malignant eccrine skin tumour", "malignant eccrine sweat gland neoplasm", "malignant eccrine tumor", "malignant eccrine tumor of skin", "malignant eccrine tumor of the skin", "malignant eccrine tumour", "malignant eccrine tumour of skin", "malignant eccrine tumour of the skin", "malignant neoplasm of eccrine sweat gland"], "xref": ["DOID:4921", "MEDGEN:233660", "NCIT:C5559", "UMLS:C1334577"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the gums.", "id": "MONDO:0005507", "name": "Gingival cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of gingiva", "gingiva cancer", "malignant gingiva neoplasm", "malignant gingival neoplasm", "malignant gingival tumor", "malignant gingival tumour", "malignant gum neoplasm", "malignant gum tumor", "malignant gum tumour", "malignant neoplasm of gingiva", "malignant neoplasm of gum", "malignant neoplasm of the gingiva", "malignant neoplasm of the gum", "malignant tumor of gingiva", "malignant tumor of gum", "malignant tumor of the gingiva", "malignant tumor of the gum", "malignant tumour of gingiva", "malignant tumour of gum", "malignant tumour of the gingiva", "malignant tumour of the gum"], "xref": ["DOID:8602", "EFO:0005557", "GARD:0024198", "ICD10CM:C03", "ICD9:143", "ICD9:143.8", "ICD9:143.9", "MEDGEN:57549", "MedDRA:10067807", "NCIT:C9317", "SCTID:363382005", "UMLS:C0153364", "icd11.foundation:1719710858"]}
{"category": ["biolink:Disease"], "description": "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.", "id": "MONDO:0005508", "name": "Hereditary multiple osteochondromas", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Bessel-Hagen disease", "exostoses, multiple", "multiple cartilaginous exostoses", "osteochondromatosis syndrome", "osteochondromatosis syndrome (disorder) [ambiguous]"], "xref": ["DOID:206", "GARD:0007035", "MEDGEN:4612", "MESH:D005097", "NANDO:2200049", "NANDO:2201014", "NANDO:2201015", "NCIT:C5183", "NORD:1233", "OMIMPS:133700", "Orphanet:321", "SCTID:254044004", "SCTID:716742001", "UMLS:C0015306", "icd11.foundation:146330302", "icd11.foundation:1578364807"]}
{"category": ["biolink:Disease"], "description": "A mesenchymal tumor composed of fibroblastic and histiocytic cells.", "id": "MONDO:0005509", "name": "Histiocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["histiocytoma"], "xref": ["DOID:4231", "EFO:0005561", "ICDO:8831/0", "MEDGEN:267592", "MESH:D051642", "NCIT:C35765", "UMLS:C1509147", "icd11.foundation:1211753554"]}
{"category": ["biolink:Disease"], "description": "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.", "id": "MONDO:0005510", "name": "Hydronephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11111", "EFO:0005562", "ICD9:591", "MEDGEN:42531", "MESH:D006869", "NCIT:C26796", "SCTID:43064006", "UMLS:C0020295"]}
{"category": ["biolink:Disease"], "description": "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.", "id": "MONDO:0005511", "name": "Janus kinase-3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060008", "EFO:0005565", "GARD:0024199", "Wikipedia:Janus_kinase_3_deficiency"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.", "id": "MONDO:0005512", "name": "Malignant peritoneal mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["advanced malignant mesothelioma of peritoneum", "advanced malignant mesothelioma of the peritoneum", "advanced peritoneal malignant mesothelioma", "diffuse malignant peritoneal mesothelioma", "malignant mesothelioma (disease) of peritoneum", "malignant peritoneal mesothelioma, advanced", "peritoneal mesothelioma (disease), malignant", "peritoneum malignant mesothelioma (disease)", "primary malignant peritoneal mesothelioma"], "xref": ["DOID:1788", "EFO:0005567", "GARD:0020102", "MEDGEN:83406", "MedDRA:10056558", "NCIT:C8704", "Orphanet:168811", "UMLS:C0346109"]}
{"category": ["biolink:Disease"], "description": "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.", "id": "MONDO:0005514", "name": "Nanophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080634", "GARD:0016637", "MEDGEN:901455", "OMIMPS:600165", "Orphanet:35612", "SCTID:716775009", "UMLS:C4274282"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.", "id": "MONDO:0005515", "name": "Oral cavity cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of oral cavity", "malignant mouth neoplasm", "malignant mouth tumor", "malignant mouth tumour", "malignant neoplasm of mouth", "malignant neoplasm of oral cavity", "malignant neoplasm of the mouth", "malignant oral cavity neoplasm", "malignant oral cavity tumor", "malignant oral cavity tumour", "malignant tumor of anterior floor of mouth", "malignant tumor of lateral floor of mouth", "malignant tumor of mouth", "malignant tumor of oral cavity", "malignant tumor of the mouth", "malignant tumour of anterior floor of mouth", "malignant tumour of lateral floor of mouth", "malignant tumour of mouth", "malignant tumour of oral cavity", "malignant tumour of the mouth", "oral cavity cancer"], "xref": ["DOID:8618", "EFO:0005570", "ICD9:144", "ICD9:144.0", "ICD9:144.1", "ICD9:145.8", "ICD9:145.9", "ICD9:149.8", "MEDGEN:56298", "NCIT:C9314", "SCTID:363505006", "UMLS:C0153381"]}
{"category": ["biolink:Disease"], "description": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage.", "id": "MONDO:0005516", "name": "Osteochondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "synonym": ["congenital skeletal dysplasia", "osteochondrodysplasia"], "xref": ["DOID:2256", "EFO:0005571", "ICD9:756.4", "MEDGEN:10495", "MESH:D010009", "NCIT:C84978", "SCTID:105985007", "UMLS:C0029422"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the pharynx.", "id": "MONDO:0005517", "name": "Pharynx cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of chordate pharynx", "cancer of pharynx", "chordate pharynx cancer", "malignant chordate pharynx neoplasm", "malignant neoplasm of chordate pharynx", "malignant neoplasm of pharynx", "malignant pharyngeal neoplasm", "malignant pharyngeal tumor", "malignant pharyngeal tumour", "malignant pharynx neoplasm", "malignant pharynx tumor", "malignant pharynx tumour", "malignant tumor of pharynx", "malignant tumor of the pharynx", "malignant tumour of pharynx", "malignant tumour of the pharynx", "pharynx cancer"], "xref": ["DOID:0060119", "EFO:0005577", "MEDGEN:57554", "MESH:D010610", "NCIT:C7545", "UMLS:C0153405"]}
{"category": ["biolink:Disease"], "description": "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.", "id": "MONDO:0005518", "name": "Pseudohermaphroditism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "xref": ["DOID:3765", "EFO:0005579", "ICD10CM:Q56.3", "MEDGEN:10991", "NCIT:C124575", "SCTID:75164001", "UMLS:C0033804", "Wikipedia:Pseudohermaphroditism"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.", "id": "MONDO:0005519", "name": "Renal pelvis carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of kidney pelvis", "carcinoma of renal pelvis", "carcinoma of the kidney pelvis", "carcinoma of the renal pelvis", "kidney pelvis carcinoma", "kidney renal pelvis cancer", "renal pelvis carcinoma"], "xref": ["DOID:4919", "EFO:0005582", "ICD10CM:C65", "ICD9:189.1", "MEDGEN:235548", "NCIT:C6142", "SCTID:363457009", "UMLS:C1335749"]}
{"category": ["biolink:Disease"], "description": "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.", "id": "MONDO:0005520", "name": "Rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["rachitis", "rickets", "rickets (disease)", "vitamin D hydroxylation-deficient rickets"], "xref": ["DOID:10609", "EFO:0005583", "GARD:0005700", "HP:0002748", "ICD9:268.0", "MEDGEN:48470", "MESH:D012279", "NCIT:C26878", "SCTID:41345002", "UMLS:C0035579"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the small intestine", "id": "MONDO:0005522", "name": "Small intestine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of small bowel", "carcinoma of small intestine", "carcinoma of the small bowel", "carcinoma of the small intestine", "small bowel carcinoma", "small intestinal carcinoma", "small intestine cancer, NOS", "small intestine carcinoma"], "xref": ["DOID:4907", "EFO:0005588", "GARD:0024201", "MEDGEN:65952", "NCIT:C7724", "ONCOTREE:SIC", "SCTID:448664009", "UMLS:C0238196", "icd11.foundation:1484520499"]}
{"category": ["biolink:Disease"], "description": "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.", "id": "MONDO:0005523", "name": "Steroid inherited metabolic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:1701", "EFO:0005590", "GARD:0024202", "MEDGEN:219772", "MESH:D043202", "UMLS:C1257809"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.", "id": "MONDO:0005524", "name": "Sweat gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of sweat gland", "carcinoma of the sweat gland", "carcinoma, sweat gland, malignant", "sweat gland carcinoma"], "xref": ["DOID:5667", "EFO:0005591", "ICDO:8400/3", "MEDGEN:234685", "NCIT:C6938", "ONCOTREE:AECA", "UMLS:C1412016"]}
{"category": ["biolink:Disease"], "description": "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.", "id": "MONDO:0005525", "name": "T-cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["T cell leukaemia (disease)", "T cell leukemia (disease)", "leukaemia (disease) of T cell", "leukemia (disease) of T cell"], "xref": ["DOID:715", "EFO:0005592", "GARD:0024203", "MEDGEN:6064", "MESH:D015458", "UMLS:C0023492"]}
{"category": ["biolink:Disease"], "description": "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.", "id": "MONDO:0005526", "name": "Tetanus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Clostridium tetani caused infectious disease of the nervous system", "Clostridium tetani infectious disease of the nervous system"], "xref": ["DOID:11338", "EFO:0005593", "GARD:0005144", "ICD9:037", "MEDGEN:21489", "MESH:D013742", "MedDRA:10043376", "NCIT:C85185", "Orphanet:3299", "SCTID:276202003", "SCTID:76902006", "UMLS:C0039614", "icd11.foundation:1793762788"]}
{"category": ["biolink:Disease"], "description": "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.", "id": "MONDO:0005527", "name": "Toxic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurotoxicity", "neurotoxicity syndrome"], "xref": ["DOID:3602", "EFO:0005595", "GARD:0007199", "ICD10CM:G92", "ICD10WHO:G92", "ICD9:349.82", "MESH:D020258", "NCIT:C27961", "SCTID:28394000", "Wikipedia:Toxic_encephalopathy"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.", "id": "MONDO:0005528", "name": "Inborn vitamin metabolic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inborn error of vitamin metabolic process", "inborn vitamin metabolic process disorder", "rare inborn error of vitamin metabolic process"], "xref": ["DOID:0050718", "EFO:0005596", "GARD:0024204"]}
{"category": ["biolink:Disease"], "description": "Disorders related or resulting from abuse or mis-use of opioids.", "id": "MONDO:0005530", "name": "Opiate dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["opioid dependence", "opioid type dependence"], "xref": ["DOID:2559", "EFO:0005611", "ICD10CM:F11.2", "ICD9:304.0", "ICD9:304.00", "MEDGEN:99372", "MESH:D009293", "SCTID:75544000", "UMLS:C0524662"]}
{"category": ["biolink:Disease"], "description": "Strong dependence, both physiological and emotional, upon morphine.", "id": "MONDO:0005531", "name": "Morphine dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2560", "EFO:0005612", "MEDGEN:7706", "MESH:D009021", "SCTID:231479000", "UMLS:C0026552", "icd11.foundation:337142707"]}
{"category": ["biolink:Disease"], "description": "Crohn's disease affecting the colon.", "id": "MONDO:0005532", "name": "Crohn's colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Crohn colitis"], "xref": ["DOID:0060192", "EFO:0005622", "MEDGEN:57618", "NANDO:1200446", "NCIT:C35211", "UMLS:C0156147"]}
{"category": ["biolink:Disease"], "description": "Particular variety of ulcerative colitis where only the left half of the colon is inflamed.", "id": "MONDO:0005533", "name": "Distal colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of left colon", "left colon inflammation"], "xref": ["EFO:0005623", "ICD9:558.9", "MEDGEN:678582", "NANDO:1200451", "SCTID:373639002", "UMLS:C0860168"]}
{"category": ["biolink:Disease"], "description": "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.", "id": "MONDO:0005534", "name": "Ileocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060190", "EFO:0005624", "MEDGEN:184943", "MedDRA:10062647", "NANDO:1200447", "UMLS:C0949272"]}
{"category": ["biolink:Disease"], "description": "Crohn's disease affecting the mouth.", "id": "MONDO:0005535", "name": "Oral crohn disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oral Crohn's disease"], "xref": ["MEDGEN:585601", "SCTID:196578009", "UMLS:C0399497"]}
{"category": ["biolink:Disease"], "description": "Ulcerative colitis that involves the entire colon.", "id": "MONDO:0005536", "name": "Pancolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pan-ulcerative colitis", "universal colitis"], "xref": ["EFO:0005626", "MEDGEN:1720692", "NANDO:1200450", "UMLS:C0868908"]}
{"category": ["biolink:Disease"], "description": "A Crohn disease involving a pathogenic inflammatory response in the anal region.", "id": "MONDO:0005537", "name": "Perianal crohn disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["perianal Crohn's disease"], "xref": ["EFO:0005627", "MEDGEN:574362", "SCTID:235796008", "UMLS:C0341395", "icd11.foundation:464644598"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.", "id": "MONDO:0005538", "name": "Proctitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anus inflammation", "inflammation of anus", "rectitis"], "xref": ["DOID:3127", "EFO:0005628", "ICD9:569.49", "MEDGEN:46113", "MESH:D011349", "NCIT:C38011", "SCTID:3951002", "UMLS:C0033246"]}
{"category": ["biolink:Disease"], "description": "A Crohn disease involving a pathogenic inflammatory response in the small intestine.", "id": "MONDO:0005539", "name": "Small bowel crohn disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["small bowel Crohn's disease"], "xref": ["EFO:0005629", "MEDGEN:57617", "NANDO:1200445", "UMLS:C0156146"]}
{"category": ["biolink:Disease"], "description": "A defect in the pars interarticularis of a vertebral bone.", "id": "MONDO:0005541", "name": "Spondylolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spondylolysis", "spondylolysis (disease)"], "xref": ["DOID:2300", "EFO:0005649", "HP:0003304", "ICD10CM:M43.0", "MEDGEN:21294", "MESH:D013169", "NCIT:C35034", "SCTID:240221008", "UMLS:C0038018", "icd11.foundation:790009325"]}
{"category": ["biolink:Disease"], "description": "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.", "id": "MONDO:0005542", "name": "Acute coronary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute coronary syndrome"], "xref": ["EFO:0005672", "MEDGEN:215295", "MESH:D054058", "NCIT:C53652", "SCTID:394659003", "UMLS:C0948089"]}
{"category": ["biolink:Disease"], "description": "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).", "id": "MONDO:0005543", "name": "Autoimmune hepatitis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["autoimmune hepatitis type 1", "type 1 AIH"], "xref": ["GARD:0022251", "ICD9:571.49", "MEDGEN:928833", "Orphanet:563576", "SCTID:197284004", "SCTID:721711009", "UMLS:C4303164", "icd11.foundation:260422751"]}
{"category": ["biolink:Disease"], "description": "Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus", "id": "MONDO:0005544", "name": "Hippocampal sclerosis of aging", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005678", "MEDGEN:1801569", "UMLS:C5691287"]}
{"category": ["biolink:Disease"], "description": "An infectious process in which the bacteria Staphylococcus aureus is present.", "id": "MONDO:0005545", "name": "Staphylococcus aureus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005681", "MEDGEN:232934", "NCIT:C122576", "SCTID:406602003", "UMLS:C1318973"]}
{"category": ["biolink:Disease"], "description": "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.", "id": "MONDO:0005546", "name": "Fibromyalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibromyalgia", "fibromyalgia syndrome"], "xref": ["DOID:631", "EFO:0005687", "ICD10CM:M79.7", "ICD9:729.1", "MEDGEN:42018", "MESH:D005356", "NCIT:C87497", "Orphanet:41842", "SCTID:203082005", "UMLS:C0016053"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.", "id": "MONDO:0005549", "name": "Renal cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RCC", "adenocarcinoma of kidney", "adenocarcinoma of the kidney", "carcinoma, renal cell, malignant", "kidney adenocarcinoma", "renal cell adenocarcinoma", "renal cell cancer", "renal cell carcinoma, stage unspecified"], "xref": ["EFO:0005708", "GARD:0024205", "ICDO:8311/1", "ICDO:8312/3", "NANDO:2200045", "NCIT:C9385"]}
{"category": ["biolink:Disease"], "description": "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.", "id": "MONDO:0005550", "name": "Infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["communicable disease", "infection", "infectious", "infectious disease", "infectious diseases and manifestations", "infectious disorder", "transmissible disease"], "xref": ["DOID:0050117", "EFO:0005741", "ICD10CM:A00-B99", "ICD9:079.0", "ICD9:136.8", "ICD9:136.9", "IDO:0000436", "MEDGEN:1057", "MESH:D003141", "NCIT:C26726", "SCTID:40733004", "UMLS:C0009450"]}
{"category": ["biolink:Disease"], "description": "An allergic disease involving a pathogenic inflammatory response in the camera-type eye.", "id": "MONDO:0005551", "name": "Eye allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0005751", "MEDGEN:1843485", "UMLS:C0852875"]}
{"category": ["biolink:Disease"], "description": "A disorder that is caused by pathologic changes in the ocular vasculature.", "id": "MONDO:0005552", "name": "Ocular vascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vasculature of eye", "disease or disorder of vasculature of eye", "disorder of vasculature of eye", "ocular vascular disorder", "vasculature of eye disease", "vasculature of eye disease or disorder"], "xref": ["EFO:0005753", "MEDGEN:182689", "NCIT:C35664", "UMLS:C0948522"]}
{"category": ["biolink:Disease"], "description": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.", "id": "MONDO:0005554", "name": "Rheumatic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rheumatic disease", "rheumatologic disorder"], "xref": ["DOID:1575", "EFO:0005755", "ICD9:729.0", "MEDGEN:3157", "MESH:D012216", "NANDO:2100151", "NANDO:2100152", "NCIT:C27204", "SCTID:396332003", "UMLS:C0009326", "Wikipedia:Rheumatism"]}
{"category": ["biolink:Disease"], "description": "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.", "id": "MONDO:0005555", "name": "Cycloplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["paresis of accommodation"], "xref": ["DOID:10033", "EFO:0005758", "ICD10CM:H52.52", "ICD9:367.51", "MEDGEN:536368", "SCTID:68158006", "UMLS:C0235238", "Wikipedia:Cycloplegia"]}
{"category": ["biolink:Disease"], "description": "Glomerulonephritis in the context of systemic lupus erythematosus.", "id": "MONDO:0005556", "name": "Lupus nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLE nephritis", "lupus glomerulonephritis", "lupus nephritis"], "xref": ["DOID:0080162", "EFO:0005761", "GARD:0010747", "MEDGEN:6147", "MESH:D008181", "NANDO:2200128", "NCIT:C34789", "SCTID:68815009", "UMLS:C0024143", "icd11.foundation:1815692673"]}
{"category": ["biolink:Disease"], "description": "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.", "id": "MONDO:0005557", "name": "Calcium metabolic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of calcium metabolism"], "xref": ["DOID:10575", "EFO:0005769", "ICD9:275.4", "ICD9:275.40", "ICD9:275.49", "MEDGEN:714", "MESH:D002128", "SCTID:71638002", "UMLS:C0006705"]}
{"category": ["biolink:Disease"], "description": "A disease involving the ovary.", "id": "MONDO:0005558", "name": "Ovarian disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of ovary", "disease or disorder of ovary", "disorder of ovary", "ovarian disease", "ovarian disorder", "ovary disease", "ovary disease or disorder"], "xref": ["DOID:1100", "EFO:0005771", "MEDGEN:892314", "MESH:D010049", "NCIT:C26841", "SCTID:5552004", "UMLS:C4021818"]}
{"category": ["biolink:Disease"], "description": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.", "id": "MONDO:0005559", "name": "Neurodegenerative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:merged_class", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain degeneration", "central nervous system degenerative disorder", "central nervous system neurodegenerative disorder", "degenerative disorder of central nervous system"], "xref": ["DOID:1289", "EFO:0005772", "ICD9:349.89", "MEDGEN:17999", "MESH:D019636", "NCIT:C4802", "SCTID:80690008", "UMLS:C0027746"]}
{"category": ["biolink:Disease"], "description": "A disease affecting the brain or part of the brain.", "id": "MONDO:0005560", "name": "Brain disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain disease", "brain disease or disorder", "disease of brain", "disease or disorder of brain", "disorder of brain"], "xref": ["DOID:936", "EFO:0005774", "ICD9:348.3", "ICD9:348.30", "ICD9:348.8", "ICD9:348.9", "MEDGEN:14214", "MESH:D001927", "NCIT:C96413", "SCTID:81308009", "UMLS:C0006111"]}
{"category": ["biolink:Disease"], "description": "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)", "id": "MONDO:0005561", "name": "Aortic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aorta disease", "aorta disease or disorder", "disease of aorta", "disease or disorder of aorta", "disorder of aorta"], "xref": ["DOID:520", "EFO:0005775", "ICD9:447.9", "MEDGEN:1618", "MESH:D001018", "NCIT:C101253", "SCTID:47040006", "UMLS:C0003493"]}
{"category": ["biolink:Disease"], "description": "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.", "id": "MONDO:0005563", "name": "Nut midline carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["19)(q13", "Midline carcinoma of children and Young adults with NUT rearrangement", "NMC", "NUT Midline carcinoma", "NUT carcinoma", "carcinoma with t(15", "nuclear protein in testis midline carcinoma", "p13.1) translocation"], "xref": ["DOID:0060463", "EFO:0005783", "GARD:0021852", "MEDGEN:312999", "NCIT:C45716", "ONCOTREE:NMCHN", "Orphanet:443167", "UMLS:C1707291", "Wikipedia:NUT_midline_carcinoma"]}
{"category": ["biolink:Disease"], "description": "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003", "id": "MONDO:0005564", "name": "Embryonal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["embryonal neoplasm", "embryonal tumor", "embryonal tumour"], "xref": ["DOID:688", "EFO:0005784", "MEDGEN:45034", "NCIT:C3264", "ONCOTREE:EMBT", "UMLS:C0027654"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm composed of undifferentiated cells.", "id": "MONDO:0005565", "name": "Blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blastoma", "embryoma"], "xref": ["DOID:0070003", "DOID:4766", "EFO:0005785", "ICDO:8981/3", "MEDGEN:181704", "NCIT:C8997", "UMLS:C0936282"]}
{"category": ["biolink:Disease"], "description": "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.", "id": "MONDO:0005566", "name": "Neonatal abstinence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NAS", "neonatal narcotic withdrawal syndrome"], "xref": ["DOID:9828", "EFO:0005799", "ICD10CM:P96.1", "ICD9:760.8", "ICD9:779.5", "MEDGEN:10207", "MESH:D009357", "NCIT:C87101", "SCTID:414819007", "UMLS:C0027609"]}
{"category": ["biolink:Disease"], "description": "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.", "id": "MONDO:0005567", "name": "Substance withdrawal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["drug withdrawal", "drug withdrawal syndrome", "substance withdrawal", "substance withdrawal disorder", "substance withdrawal syndrome", "withdrawal syndrome"], "xref": ["DOID:0060001", "EFO:0005800", "ICD9:292.0", "MEDGEN:20990", "MESH:D013375", "NCIT:C35046", "SCTID:363101005", "UMLS:C0038587"]}
{"category": ["biolink:Disease"], "description": "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.", "id": "MONDO:0005568", "name": "Cholesterol embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atheroembolism"], "xref": ["DOID:1461", "EFO:0005801", "ICD10CM:I75", "ICD9:445", "ICD9:459.89", "MEDGEN:57437", "MESH:D017700", "SCTID:307406004", "UMLS:C0149649"]}
{"category": ["biolink:Disease"], "description": "A disease involving the hematopoietic system.", "id": "MONDO:0005570", "name": "Hematologic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare_grouping"], "synonym": ["blood disease", "blood disorder", "disease of hematopoietic system", "disease of the blood and blood-forming organs", "disease or disorder of haematopoietic system", "disease or disorder of hematopoietic system", "disorder of haematopoietic system", "disorder of hematopoietic system", "haematological disease", "haematological disorder", "haematological system disease", "haematopoietic disease", "haematopoietic system disease or disorder", "hematologic and lymphocytic disorder", "hematologic disorder", "hematological disease", "hematological disorder", "hematological system disease", "hematopoietic disease", "hematopoietic system disease", "hematopoietic system disease or disorder", "rare hematologic disease"], "xref": ["DOID:74", "EFO:0005803", "GTR:AN1320635", "ICD10CM:D50-D89", "ICD9:280-289", "ICD9:289.8", "ICD9:289.9", "MEDGEN:5483", "MESH:D006402", "NANDO:1100006", "NANDO:2100175", "NCIT:C26323", "Orphanet:97992", "SCTID:414022008", "UMLS:C0018939"]}
{"category": ["biolink:Disease"], "description": "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.", "id": "MONDO:0005571", "name": "Polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["polycythemia", "polycythemia (disease)"], "xref": ["DOID:8432", "EFO:0005804", "HP:0001901", "MEDGEN:18552", "MESH:D011086", "MedDRA:10036051", "NCIT:C26863", "Orphanet:98427", "UMLS:C0032461"]}
{"category": ["biolink:Disease"], "description": "Polycythemia resulting from hypoxia.", "id": "MONDO:0005572", "name": "Polycythemia due to hypoxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:2835", "GARD:0024206", "MEDGEN:163546", "NCIT:C27312", "UMLS:C0856818"]}
{"category": ["biolink:Disease"], "description": "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.", "id": "MONDO:0005574", "name": "Tauopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:680", "EFO:0005815", "MEDGEN:181880", "MESH:D024801", "UMLS:C0949664"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0005575", "name": "Colorectal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["cancer of colorectum", "cancer of large bowel", "cancer of large intestine", "cancer of the large bowel", "colon cancer, advanced, somatic", "colon cancer, somatic", "colorectal cancer", "colorectal cancer with chromosomal instability, somatic", "colorectal cancer, autosomal dominant, somatic mutation", "colorectal cancer, somatic", "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "colorectum cancer", "malignant colorectal neoplasm", "malignant colorectal tumor", "malignant colorectal tumour", "malignant colorectum neoplasm", "malignant large bowel neoplasm", "malignant large bowel tumor", "malignant large bowel tumour", "malignant large intestine neoplasm", "malignant large intestine tumor", "malignant large intestine tumour", "malignant neoplasm of colorectum", "malignant neoplasm of large bowel", "malignant neoplasm of large intestine", "malignant neoplasm of the large bowel", "malignant neoplasm of the large intestine", "malignant tumor of large bowel", "malignant tumor of large intestine", "malignant tumor of the large bowel", "malignant tumor of the large intestine", "malignant tumour of large bowel", "malignant tumour of large intestine", "malignant tumour of the large bowel", "malignant tumour of the large intestine"], "xref": ["DOID:5672", "DOID:9256", "MEDGEN:83428", "NCIT:C4978", "OMIM:114500", "Orphanet:466667", "SCTID:363510005", "UMLS:C0346629"]}
{"category": ["biolink:Disease"], "description": "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.", "id": "MONDO:0005576", "name": "Cryoglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cryoglobulinemia"], "xref": ["DOID:2917", "EFO:0005846", "ICD10CM:D89.1", "ICD9:273.2", "MEDGEN:3673", "MESH:D003449", "NCIT:C26736", "SCTID:30911005", "UMLS:C0010403"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.", "id": "MONDO:0005578", "name": "Arthritic joint disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arthritis", "inflammation of skeletal joint", "skeletal joint inflammation"], "xref": ["DOID:848", "EFO:0005856", "MEDGEN:2043", "MESH:D001168", "NCIT:C2883", "SCTID:3723001", "UMLS:C0003864", "Wikipedia:Arthritis"]}
{"category": ["biolink:Disease"], "description": "A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures.", "id": "MONDO:0005579", "name": "Idiopathic generalized epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["EIG", "IGE", "epilepsy, idiopathic generalized", "hereditary idiopathic generalized epilepsy", "idiopathic generalised epilepsy", "idiopathic generalized epilepsy"], "xref": ["DOID:1827", "EFO:0005917", "MEDGEN:75725", "MESH:C562694", "OMIM:600669", "OMIMPS:600669", "SCTID:19598007", "UMLS:C0270850"]}
{"category": ["biolink:Disease"], "description": "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.", "id": "MONDO:0005580", "name": "Esophageal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ESCC", "esophageal epidermoid carcinoma", "esophageal scc", "esophageal squamous cell cancer", "esophageal squamous cell carcinoma", "esophagus scc", "esophagus squamous cell carcinoma", "oesophagus scc", "scc of esophagus", "scc of the esophagus", "scc of the oesophagus", "squamous cell car. - esophagus", "squamous cell car. - oesophagus", "squamous cell carcinoma of esophagus", "squamous cell carcinoma of oesophagus", "squamous cell carcinoma of the esophagus", "squamous cell carcinoma of the oesophagus"], "xref": ["DOID:3748", "EFO:0005922", "GARD:0018901", "MEDGEN:124635", "MESH:C562729", "MESH:D000077277", "NCIT:C4024", "ONCOTREE:ESCC", "Orphanet:99977", "SCTID:276804009", "UMLS:C0279626", "icd11.foundation:1417891145"]}
{"category": ["biolink:Disease"], "description": "Recurrent episodes of over-eating.", "id": "MONDO:0005582", "name": "Binge eating disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["binge eating", "binge eating disorder"], "xref": ["EFO:0005924", "ICD10CM:F50.81", "MEDGEN:154543", "MESH:D002032", "NCIT:C97162", "SCTID:439960005", "UMLS:C0596170", "icd11.foundation:1673294767"]}
{"category": ["biolink:Disease"], "description": "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.", "id": "MONDO:0005584", "name": "Congenital left-sided heart lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0005938", "GARD:0024207", "MEDGEN:868006", "UMLS:C4022397"]}
{"category": ["biolink:Disease"], "description": "A form of hypertension that occurs as a direct result of chemotherapy treatment", "id": "MONDO:0005585", "name": "Chemotherapy-induced hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.", "id": "MONDO:0005586", "name": "Head and neck neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["craniocervical region neoplasm", "craniocervical region neoplasm (disease)", "craniocervical region tumor", "craniocervical region tumour", "head and neck neoplasm", "head and neck neoplasm (excluding central nervous system)", "head and neck tumor", "head and neck tumour", "neoplasm of craniocervical region", "neoplasm of head and neck", "neoplasm of the head and neck", "tumor of craniocervical region", "tumor of head and neck", "tumor of the head and neck", "tumour of craniocervical region", "tumour of head and neck", "tumour of the head and neck"], "xref": ["EFO:0005950", "ICD9:239.89", "MEDGEN:6728", "NCIT:C3077", "ONCOTREE:HEADNECK", "SCTID:255055008", "UMLS:C0018671"]}
{"category": ["biolink:Disease"], "description": "Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.", "id": "MONDO:0005588", "name": "Chemotherapy-induced oral mucositis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:853868", "UMLS:C2887631"]}
{"category": ["biolink:Disease"], "description": "Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.", "id": "MONDO:0005589", "name": "Thiopurine immunosuppressant-induced pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0006315"]}
{"category": ["biolink:Disease"], "description": "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.", "id": "MONDO:0005590", "name": "Breast ductal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast ductal carcinoma", "ductal breast adenocarcinoma", "ductal breast carcinoma", "ductal carcinoma of breast", "ductal carcinoma of the breast", "mammary duct adenocarcinoma"], "xref": ["DOID:3007", "EFO:0006318", "MEDGEN:315942", "MESH:D018270", "NCIT:C4017", "UMLS:C1527349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005591", "name": "Pit and fissure surface dental caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:521.06", "MEDGEN:712983", "UMLS:C1290627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005592", "name": "Smooth surface dental caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:521.07", "MEDGEN:1843464", "UMLS:C1456145"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory process that affects the tissues that surround and support the teeth.", "id": "MONDO:0005593", "name": "Chronic periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["periodontitis, chronic"], "xref": ["EFO:0006343", "ICD10CM:K05.3", "ICD9:523.4", "ICD9:523.40", "MESH:D055113", "NCIT:C35326", "SCTID:5689008", "icd11.foundation:1242548497"]}
{"category": ["biolink:Disease"], "description": "A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).", "id": "MONDO:0005594", "name": "Severe cutaneous adverse reaction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SCAR"], "xref": ["EFO:0006346", "MEDGEN:1843455", "MESH:D002921", "MedDRA:20000020", "UMLS:C5554042"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.", "id": "MONDO:0005595", "name": "Laryngeal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of larynx", "epidermoid carcinoma of the larynx", "laryngeal epidermoid carcinoma", "laryngeal squamous cell carcinoma", "laryngeal throat squamous cell cancer", "larynx epidermoid carcinoma", "larynx squamous cell carcinoma", "squamous cell carcinoma of larynx", "squamous cell carcinoma of the larynx"], "xref": ["DOID:2876", "EFO:0006352", "GARD:0017908", "MEDGEN:83630", "NCIT:C4044", "ONCOTREE:LXSC", "Orphanet:494550", "SCTID:405822008", "UMLS:C0280324"]}
{"category": ["biolink:Disease"], "description": "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.", "id": "MONDO:0005596", "name": "Cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystadenocarcinoma", "cystadenocarcinoma (morphologic abnormality)", "cystadenocarcinoma NOS (morphologic abnormality)", "cystadenocarcinoma, malignant"], "xref": ["DOID:3111", "EFO:0006387", "ICDO:8440/3", "MEDGEN:41385", "MESH:D003536", "NCIT:C2971", "UMLS:C0010631"]}
{"category": ["biolink:Disease"], "description": "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.", "id": "MONDO:0005597", "name": "Cystic renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "xref": ["EFO:0006388", "PMID:3739121"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma associated with increased dopamine excretion.", "id": "MONDO:0005598", "name": "Dopaminergic neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "xref": ["EFO:0006391", "PMID:3385588"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.", "id": "MONDO:0005599", "name": "Malignant epithelioid mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epithelial mesothelioma", "epithelioid mesothelioma", "epithelioid mesothelioma, malignant", "epithelioid mesothelioma, malignant (morphologic abnormality)", "malignant epithelial mesothelioma"], "xref": ["DOID:4489", "EFO:0006452", "GARD:0024208", "ICDO:9052/3", "MEDGEN:163578", "NCIT:C7985", "UMLS:C0862312"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.", "id": "MONDO:0005601", "name": "Ovarian mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mucinous adenocarcinoma of ovary", "mucinous adenocarcinoma of the ovary", "mucinous carcinoma of ovary", "mucinous carcinoma of the ovary", "ovarian mucinous adenocarcinoma", "ovarian mucinous carcinoma", "ovary mucinous adenocarcinoma"], "xref": ["DOID:3606", "EFO:0006462", "GARD:0021651", "MEDGEN:235418", "NCIT:C5243", "Orphanet:398961", "UMLS:C1335167", "icd11.foundation:869438441"]}
{"category": ["biolink:Disease"], "description": "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.", "id": "MONDO:0005602", "name": "Ovarian teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["germ cell teratoma of ovary", "germ cell teratoma of the ovary", "ovarian germ cell teratoma", "ovarian teratoma", "teratoma of ovary", "teratoma of the ovary"], "xref": ["DOID:5567", "EFO:0006463", "GARD:0024209", "MEDGEN:76072", "NCIT:C8110", "SCTID:716077006", "UMLS:C0280131", "icd11.foundation:1752240825"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.", "id": "MONDO:0005605", "name": "Transitional cell papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papilloma, transitional cell, benign", "transitional cell papilloma NOS (morphologic abnormality)", "transitional cell papilloma, benign (morphologic abnormality)"], "xref": ["DOID:2670", "EFO:0006497", "ICDO:8120/0", "MEDGEN:137734", "NCIT:C4115", "UMLS:C0334266"]}
{"category": ["biolink:Disease"], "description": "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.", "id": "MONDO:0005606", "name": "Tubular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma, tubular cell, malignant", "tubular adenocarcinoma", "tubular adenocarcinoma (morphologic abnormality)"], "xref": ["DOID:4929", "EFO:0006500", "ICDO:8211/3", "MEDGEN:61428", "NCIT:C65192", "UMLS:C0205645"]}
{"category": ["biolink:Disease"], "description": "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.", "id": "MONDO:0005607", "name": "Chronic bronchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchitis, chronic"], "xref": ["EFO:0006505", "ICD9:491", "ICD9:491.8", "ICD9:491.9", "MEDGEN:3084", "MESH:D029481", "NCIT:C26722", "SCTID:63480004", "UMLS:C0008677", "icd11.foundation:290835130"]}
{"category": ["biolink:Disease"], "description": "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.", "id": "MONDO:0005608", "name": "Varicella zoster infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Varicella-zoster Virus infection", "varicella zoster infection"], "xref": ["EFO:0006509", "ICD9:052.7", "MEDGEN:668886", "NCIT:C96407", "SCTID:309465005", "UMLS:C0586989"]}
{"category": ["biolink:Disease"], "description": "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.", "id": "MONDO:0005609", "name": "Herpes zoster", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Zoster", "herpes Zoster", "shingles"], "xref": ["DOID:8536", "EFO:0006510", "ICD10CM:B02", "ICD9:053", "MEDGEN:42437", "MESH:D006562", "NCIT:C71079", "SCTID:4740000", "UMLS:C0019360"]}
{"category": ["biolink:Disease"], "description": "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.", "id": "MONDO:0005610", "name": "Kashin-beck disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0006511", "ICD9:716.00", "ICD9:716.06", "ICD9:716.08", "MEDGEN:412531", "MESH:D057767", "SCTID:270505009", "UMLS:C2745963", "icd11.foundation:211396970"]}
{"category": ["biolink:Disease"], "description": "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.", "id": "MONDO:0005611", "name": "Bladder transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bladder transitional cell carcinoma", "bladder urothelial cancer", "bladder urothelial carcinoma", "transitional cell carcinoma of the urinary bladder", "urinary bladder transitional cell carcinoma", "urinary bladder urothelial carcinoma", "urothelial carcinoma of the urinary bladder"], "xref": ["DOID:4006", "EFO:0006544", "MEDGEN:76013", "NCIT:C39851", "ONCOTREE:BLCA", "SCTID:255109008", "UMLS:C0279680"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.", "id": "MONDO:0005613", "name": "Mesonephric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant mesonephroma"], "xref": ["EFO:0006719", "ICDO:9110/3", "MEDGEN:44373", "NCIT:C4072", "UMLS:C0025490"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.", "id": "MONDO:0005614", "name": "Pancreatic adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenosquamous carcinoma of pancreas", "adenosquamous carcinoma of the pancreas", "adenosquamous pancreas carcinoma", "pancreas adenosquamous carcinoma", "pancreatic adenoacanthoma", "pancreatic adenosquamous cancer", "pancreatic adenosquamous carcinoma", "pancreatic mixed squamous and adenocarcinoma", "pancreatic mucoepidermoid carcinoma"], "xref": ["DOID:5637", "EFO:0006732", "GARD:0024211", "MEDGEN:277489", "NCIT:C5721", "ONCOTREE:PAASC", "UMLS:C1335299"]}
{"category": ["biolink:Disease"], "description": "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.", "id": "MONDO:0005615", "name": "Plasmacytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["plasmacytoma"], "xref": ["DOID:3721", "EFO:0006738", "GARD:0013446", "ICD9:238.6", "ICDO:9731/3", "MEDGEN:18506", "MESH:D010954", "MedDRA:10035484", "NCIT:C9349", "Orphanet:86855", "SCTID:415112005", "UMLS:C0032131", "icd11.foundation:1811140613"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.", "id": "MONDO:0005616", "name": "Pulmonary mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung mucoepidermoid cancer", "lung mucoepidermoid carcinoma"], "xref": ["DOID:0050932", "EFO:0006740", "GARD:0024212", "MEDGEN:310949", "NCIT:C45544", "ONCOTREE:LUMEC", "UMLS:C1708778"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.", "id": "MONDO:0005617", "name": "Undifferentiated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaplastic carcinoma", "carcinoma, undifferentiated", "carcinoma, undifferentiated, malignant", "undifferentiated carcinoma"], "xref": ["EFO:0006772", "ICDO:8020/3", "ICDO:8021/3", "MEDGEN:60010", "NCIT:C3692", "UMLS:C0205698"]}
{"category": ["biolink:Disease"], "description": "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.", "id": "MONDO:0005618", "name": "Anxiety disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anxiety disorder"], "xref": ["DOID:2030", "EFO:0006788", "ICD9:300.09", "MEDGEN:361", "MESH:D001008", "NCIT:C2878", "SCTID:197480006", "UMLS:C0003469"]}
{"category": ["biolink:Disease"], "description": "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.", "id": "MONDO:0005619", "name": "Typhoid fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["typhoid", "typhoid fever", "typhoidal salmonellosis"], "xref": ["DOID:13258", "EFO:0006789", "GARD:0009564", "ICD10CM:A01.0", "ICD9:002.0", "MEDGEN:11973", "MESH:D014435", "NCIT:C35089", "Orphanet:99745", "SCTID:4834000", "UMLS:C0041466", "icd11.foundation:1528414070"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.", "id": "MONDO:0005620", "name": "Cerebral amyloid angiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCHWA", "dutch hereditary cerebral amyloid angiopathy", "hereditary cerebral haemorrhage with amyloidosis - Dutch type", "hereditary cerebral hemorrhage with amyloidosis - Dutch type"], "xref": ["DOID:9246", "EFO:0006790", "GARD:0010266", "ICD10CM:I68.0", "ICD9:277.39", "MEDGEN:267610", "MESH:D016657", "NCIT:C84625", "Orphanet:85458", "SCTID:230724001", "UMLS:C1510489"]}
{"category": ["biolink:Disease"], "description": "Damage to the blood vessels of the brain", "id": "MONDO:0005621", "name": "Vascular brain injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0006791", "MESH:D020214"]}
{"category": ["biolink:Disease"], "description": "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.", "id": "MONDO:0005623", "name": "Autoimmune thyroid disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autoimmune thyroid gland inflammation"], "xref": ["EFO:0006812", "MEDGEN:183088", "MESH:D013967", "UMLS:C0920350", "Wikipedia:Autoimmune_thyroiditis"]}
{"category": ["biolink:Disease"], "description": "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.", "id": "MONDO:0005624", "name": "Atrophic thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0006813", "MEDGEN:536775", "NANDO:2200336", "SCTID:83664006", "UMLS:C0238183"]}
{"category": ["biolink:Disease"], "description": "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.", "id": "MONDO:0005625", "name": "Cerebral malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:14069", "EFO:0006857", "GARD:0024213", "ICD9:084.9", "MEDGEN:44258", "MESH:D016779", "NCIT:C128373", "SCTID:53622003", "UMLS:C0024534", "Wikipedia:Malaria"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.", "id": "MONDO:0005626", "name": "Epithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelial neoplasm", "epithelioma"], "xref": ["EFO:0006858", "MEDGEN:277963", "MESH:D009375", "NCIT:C3709", "SCTID:118285006", "UMLS:C1368683"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.", "id": "MONDO:0005627", "name": "Head and neck cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of craniocervical region", "cancer of head and neck", "cancer of the head and neck", "craniocervical region cancer", "head and neck cancer", "head and neck malignant neoplasia", "malignant craniocervical region neoplasm", "malignant head and neck neoplasm", "malignant head and neck tumor", "malignant head and neck tumour", "malignant neoplasm of craniocervical region", "malignant neoplasm of head and neck", "malignant neoplasm of the head and neck", "malignant tumor of head and neck", "malignant tumor of the head and neck", "malignant tumour of head and neck", "malignant tumour of the head and neck"], "xref": ["DOID:11934", "EFO:0006859", "MEDGEN:78920", "NCIT:C4013", "UMLS:C0278996"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the male breast.", "id": "MONDO:0005628", "name": "Male breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Male breast cancer", "Male breast carcinoma", "carcinoma of Male breast", "carcinoma of male breast", "carcinoma of the Male breast", "male breast cancer", "male breast carcinoma"], "xref": ["DOID:1614", "EFO:0006861", "GARD:0009312", "ICD9:175.9", "MEDGEN:68650", "MESH:D018567", "NCIT:C3862", "SCTID:372095001", "UMLS:C0238033"]}
{"category": ["biolink:Disease"], "description": "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.", "id": "MONDO:0005629", "name": "Acanthamoeba keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Acanthamoeba caused keratitis", "keratitis, Acanthamoeba"], "xref": ["EFO:0007126", "GARD:0009285", "ICD9:370.8", "MEDGEN:1268", "MESH:D015823", "MedDRA:10069408", "NCIT:C50450", "Orphanet:67043", "SCTID:231896005", "UMLS:C0000880", "icd11.foundation:49744193"]}
{"category": ["biolink:Disease"], "description": "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.", "id": "MONDO:0005631", "name": "Actinomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Actinomyces infection"], "xref": ["DOID:8478", "EFO:0007128", "GARD:0005728", "ICD10CM:A42", "ICD10WHO:A42", "ICD9:039", "MEDGEN:1733", "MESH:D000196", "NCIT:C34350", "Orphanet:457095", "UMLS:C0001261", "icd11.foundation:1697630330"]}
{"category": ["biolink:Disease"], "description": "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.", "id": "MONDO:0005632", "name": "Acute chest syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ACS"], "xref": ["DOID:1584", "EFO:0007129", "ICD9:517.3", "MEDGEN:196643", "MESH:D056586", "NCIT:C138179", "SCTID:372146004", "UMLS:C0742343"]}
{"category": ["biolink:Disease"], "description": "Acute conjunctivitis that is characterized by bleeding into the conjunctiva.", "id": "MONDO:0005634", "name": "Acute hemorrhagic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidemic hemorrhagic conjunctivitis"], "xref": ["DOID:11227", "EFO:0007131", "ICD9:077.4", "MEDGEN:1094", "MESH:D003232", "NCIT:C34505", "SCTID:398264003", "UMLS:C0009765"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.", "id": "MONDO:0005635", "name": "Adenomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenomyoma", "adenomyoma (morphologic abnormality)", "adenomyoma, benign"], "xref": ["DOID:2609", "EFO:0007133", "ICDO:8932/0", "MEDGEN:64617", "MESH:D018194", "NCIT:C3726", "UMLS:C0206622"]}
{"category": ["biolink:Disease"], "description": "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.", "id": "MONDO:0005636", "name": "Adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Mullerian adenosarcoma", "Müllerian adenosarcoma", "adenosarcoma", "adenosarcoma (morphologic abnormality)", "mullerian adenosarcoma"], "xref": ["DOID:1974", "EFO:0007134", "ICDO:8933/3", "MEDGEN:126", "MESH:D018195", "NCIT:C9474", "UMLS:C0001442"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.", "id": "MONDO:0005638", "name": "Agnosia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["agnosia"], "xref": ["DOID:4090", "EFO:0007136", "GARD:0027722", "ICD10CM:R48.1", "MEDGEN:174", "MESH:D000377", "NCIT:C84542", "SCTID:68345001", "UMLS:C0001816", "icd11.foundation:1315065296"]}
{"category": ["biolink:Disease"], "description": "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.", "id": "MONDO:0005639", "name": "Aids related complex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007137", "MEDGEN:1793", "MESH:D000386", "UMLS:C0001857"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)", "id": "MONDO:0005640", "name": "Akinetic mutism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Coma vigilans (finding)"], "xref": ["DOID:4267", "EFO:0007138", "MEDGEN:7942", "MESH:D000405", "SCTID:53333005", "UMLS:C0001889", "icd11.foundation:1448580674"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis due to hypersensitivity to various allergens.", "id": "MONDO:0005642", "name": "Atopic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Atopic conjunctivitis", "allergic conjunctivitis", "allergic conjunctivitis (disease)", "allergic form of conjunctivitis (disease)"], "xref": ["DOID:11204", "EFO:0007141", "HP:0007879", "ICD9:372.14", "MEDGEN:3590", "NCIT:C34506", "SCTID:473460002", "UMLS:C0009766"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by members of the alphavirus genus of the family togaviridae.", "id": "MONDO:0005643", "name": "Alphavirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Alphavirus caused disease or disorder", "Alphavirus disease or disorder"], "xref": ["EFO:0007142", "GARD:0027723", "MEDGEN:64650", "MESH:D018354", "UMLS:C0206752"]}
{"category": ["biolink:Disease"], "description": "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.", "id": "MONDO:0005644", "name": "Amebiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9181", "EFO:0007144", "ICD10CM:A06", "ICD9:006", "ICD9:006.9", "MEDGEN:1857", "MESH:D000562", "NCIT:C84551", "UMLS:C0002438"]}
{"category": ["biolink:Disease"], "description": "Infection by hookworms of the genus Ancylostoma.", "id": "MONDO:0005645", "name": "Ancylostomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ancylostoma caused disease or disorder", "Ancylostoma disease or disorder", "Ancylostoma infectious disease"], "xref": ["DOID:12841", "EFO:0007145", "GARD:0009742", "ICD10CM:B76.0", "ICD9:126.8", "ICD9:126.9", "MEDGEN:1522", "MESH:D000724", "MedDRA:10002255", "MedDRA:10020376", "NCIT:C35805", "Orphanet:78", "SCTID:63479002", "UMLS:C0002831", "icd11.foundation:1542252776"]}
{"category": ["biolink:Disease"], "description": "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.", "id": "MONDO:0005647", "name": "Anogenital human papillomavirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anogenital Human Papillomavirus infection", "anogenital Human papilloma Virus infection"], "xref": ["DOID:11168", "EFO:0007147", "ICD9:078.11", "MEDGEN:108217", "MESH:D003218", "NCIT:C4820", "SCTID:266113007", "UMLS:C0554632"]}
{"category": ["biolink:Disease"], "description": "Dysfunction of the aortic valve characterized by incomplete valve closure.", "id": "MONDO:0005648", "name": "Aortic valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aortic insufficiency", "rheumatic aortic insufficiency", "rheumatic aortic regurgitation"], "xref": ["DOID:57", "EFO:0007148", "ICD10CM:I06.1", "ICD9:395.1", "ICD9:396.3", "MEDGEN:8153", "MESH:D001022", "NANDO:2200307", "NCIT:C51223", "SCTID:78031003", "UMLS:C0003504", "icd11.foundation:1548485475"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the vermiform appendix.", "id": "MONDO:0005649", "name": "Appendicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of vermiform appendix", "vermiform appendix inflammation"], "xref": ["DOID:8337", "EFO:0007149", "ICD9:540-543", "ICD9:541", "MEDGEN:1630", "MESH:D001064", "NCIT:C35145", "SCTID:74400008", "UMLS:C0003615", "icd11.foundation:1881255733"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the arenaviridae.", "id": "MONDO:0005650", "name": "Arenaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Arenaviridae caused disease or disorder", "Arenaviridae disease or disorder", "arenavirus infectious disease", "disease due to arenavirus"], "xref": ["DOID:3944", "EFO:0007150", "ICD9:078.89", "MESH:D001117", "SCTID:3303004"]}
{"category": ["biolink:Disease"], "description": "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.", "id": "MONDO:0005651", "name": "Arenavirus hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["arenaviral hemorrhagic fever"], "xref": ["GARD:0024214", "ICD10CM:A96", "ICD9:078.7", "MEDGEN:509153", "SCTID:73730005", "UMLS:C0153112"]}
{"category": ["biolink:Disease"], "description": "Infections caused by viruses of the family arteriviridae.", "id": "MONDO:0005652", "name": "Arterivirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Arterivirus caused disease or disorder", "Arterivirus disease or disorder"], "xref": ["EFO:0007152", "MEDGEN:60190", "MESH:D018174", "UMLS:C0206604"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.", "id": "MONDO:0005654", "name": "Ascariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Ascaris lumbricoides caused disease or disorder", "Ascaris lumbricoides disease or disorder", "Ascaris lumbricoides infectious disease"], "xref": ["CSP:1248-7284", "DOID:456", "EFO:0007154", "GARD:0027724", "ICD10CM:B77", "ICD10WHO:B77", "ICD9:127.0", "MEDGEN:2087", "MESH:D001196", "NCIT:C128392", "SCTID:2435008", "UMLS:C0003950", "icd11.foundation:17842540"]}
{"category": ["biolink:Disease"], "description": "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.", "id": "MONDO:0005655", "name": "Ascaridiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Ascaridia caused disease or disorder", "Ascaridia disease or disorder", "Ascaridia infectious disease", "infection by Ascaridia"], "xref": ["DOID:3108", "EFO:0007155", "GARD:0027725", "MEDGEN:2089", "MESH:D001198", "SCTID:76160002", "UMLS:C0003952"]}
{"category": ["biolink:Disease"], "description": "Infections with nematodes of the order ascaridida.", "id": "MONDO:0005656", "name": "Ascaridida infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ascaridida caused disease or disorder", "Ascaridida disease or disorder"], "xref": ["GARD:0027726", "MESH:D017191"]}
{"category": ["biolink:Disease"], "description": "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.", "id": "MONDO:0005657", "name": "Aspergillosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["CSP:1988-4002", "DOID:13564", "EFO:0007157", "GARD:0005856", "ICD10CM:B44", "ICD10WHO:B44", "ICD9:117.3", "MEDGEN:13939", "MESH:D001228", "MedDRA:10003488", "NCIT:C2886", "NORD:814", "Orphanet:1163", "SCTID:65553006", "UMLS:C0004030", "icd11.foundation:1913468488"]}
{"category": ["biolink:Disease"], "description": "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.", "id": "MONDO:0005658", "name": "Astroviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:84000", "MESH:D019350", "UMLS:C0376550"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).", "id": "MONDO:0005659", "name": "Atrophic rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4731", "EFO:0007159", "MEDGEN:48450", "MESH:D012222", "SCTID:69646003", "UMLS:C0035459"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.", "id": "MONDO:0005660", "name": "Avulavirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:226249", "MESH:D045463", "UMLS:C1258034"]}
{"category": ["biolink:Disease"], "description": "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.", "id": "MONDO:0005661", "name": "Babesiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Babesia caused disease or disorder", "Babesia disease or disorder", "Babesia infectious disease", "babesiasis", "infection by Babesia", "piroplasmosis"], "xref": ["DOID:9643", "EFO:0007162", "GARD:0005878", "ICD10CM:B60.0", "ICD9:088.82", "MEDGEN:2523", "MESH:D001404", "MedDRA:10003965", "NCIT:C84581", "NORD:832", "Orphanet:108", "SCTID:21061004", "UMLS:C0004576", "icd11.foundation:1947003329"]}
{"category": ["biolink:Disease"], "description": "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.", "id": "MONDO:0005662", "name": "Balantidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["balantidiosis", "ciliary dysentery"], "xref": ["DOID:12386", "EFO:0007163", "GARD:0000809", "ICD10CM:A07.0", "ICD9:007.0", "MEDGEN:2540", "MESH:D001447", "MedDRA:10004080", "NCIT:C84583", "NORD:833", "Orphanet:1223", "SCTID:57725006", "UMLS:C0004692", "icd11.foundation:2090337975"]}
{"category": ["biolink:Disease"], "description": "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.", "id": "MONDO:0005663", "name": "Barre-lieou syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cervicocranial syndrome", "posterior cervical sympathetic syndrome"], "xref": ["DOID:6692", "ICD10CM:M53.0", "ICD9:723.2", "MEDGEN:87688", "MESH:D055010", "NCIT:C34411", "SCTID:17300000", "UMLS:C0376378"]}
{"category": ["biolink:Disease"], "description": "An infectious disease produced by bacteria of the genus Bartonella.", "id": "MONDO:0005664", "name": "Bartonellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bartonella caused disease or disorder", "Bartonella disease or disorder", "Bartonella infection", "Rochalimaea infection (disorder)"], "xref": ["DOID:11102", "EFO:0007166", "ICD10CM:A44", "ICD10WHO:A44", "ICD9:088.0", "MEDGEN:504", "MESH:D001474", "NCIT:C84586", "SCTID:266123003", "UMLS:C0004771", "icd11.foundation:1938462328"]}
{"category": ["biolink:Disease"], "description": "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.", "id": "MONDO:0005665", "name": "Bell's palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["facial nerve palsy", "facial nerve paralysis", "nerve paralysis, Facial", "palsy of facial nerve", "paralysis Of Facial nerve"], "xref": ["DOID:12506", "EFO:0007167", "ICD10CM:G51.0", "ICD9:351.0", "MEDGEN:87660", "MESH:D020330", "NCIT:C26769", "Orphanet:2810", "SCTID:193093009", "UMLS:C0376175"]}
{"category": ["biolink:Disease"], "description": "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.", "id": "MONDO:0005667", "name": "Biliary dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4140", "EFO:0007169", "HP:0012396", "ICD9:575.8", "MEDGEN:2627", "MESH:D001657", "SCTID:197432008", "UMLS:C0005416"]}
{"category": ["biolink:Disease"], "description": "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.", "id": "MONDO:0005668", "name": "Bird fancier's lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Avian hypersensitivity pneumonitis", "bird fancier lung", "bird fancier's lung", "bird-fanciers' lung", "pigeon-breeder lung disease", "pigeon-breeder's lung"], "xref": ["DOID:13891", "GARD:0016924", "ICD10CM:J67.2", "ICD9:495.2", "MEDGEN:586", "MESH:D001716", "MedDRA:10004941", "NCIT:C34425", "Orphanet:99908", "SCTID:69339004", "UMLS:C0005592", "icd11.foundation:912113736"]}
{"category": ["biolink:Disease"], "description": "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.", "id": "MONDO:0005669", "name": "Black piedra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12711", "ICD10CM:B36.3", "ICD9:111.3", "MEDGEN:452132", "SCTID:33666009", "UMLS:C0153249", "icd11.foundation:1990974193"]}
{"category": ["biolink:Disease"], "description": "A complication of malaria resulting from hemolysis.", "id": "MONDO:0005670", "name": "Blackwater fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["blackwater fever", "malarial hemoglobinuria"], "xref": ["DOID:14068", "EFO:0007172", "GARD:0024215", "ICD9:084.8", "MEDGEN:2277", "MESH:D001742", "NCIT:C34426", "SCTID:56625005", "UMLS:C0005681"]}
{"category": ["biolink:Disease"], "description": "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.", "id": "MONDO:0005671", "name": "Blastocystis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Blastocystis infection"], "xref": ["EFO:0007173", "MESH:D016776", "SCTID:721809007"]}
{"category": ["biolink:Disease"], "description": "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.", "id": "MONDO:0005672", "name": "Blastomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Blastomyces dermatitidis caused disease or disorder", "Blastomyces dermatitidis disease or disorder", "Blastomyces dermatitidis infection", "Blastomyces dermatitidis infectious disease", "North American blastomycosis", "blastomycotic infection", "infection by Blastomyces dermatitidis"], "xref": ["CSP:1988-4119", "DOID:12663", "EFO:0007174", "ICD10CM:B40", "ICD10WHO:B40", "ICD9:116", "ICD9:116.0", "MEDGEN:597", "MESH:D001759", "NCIT:C34428", "NCIT:C34429", "SCTID:191950004", "UMLS:C0005716", "icd11.foundation:1968108845"]}
{"category": ["biolink:Disease"], "description": "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.", "id": "MONDO:0005673", "name": "Blind loop syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blind loop syndrome", "stasis (blind loop) syndrome", "stasis syndrome"], "xref": ["DOID:10606", "EFO:0007175", "ICD9:579.2", "MEDGEN:600", "MESH:D001765", "NCIT:C34431", "SCTID:66379009", "UMLS:C0005750", "icd11.foundation:1719064637"]}
{"category": ["biolink:Disease"], "description": "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.", "id": "MONDO:0005674", "name": "Bone giant cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GCT of bone", "Osteoclastoma, benign", "benign bone giant cell tumor", "benign bone giant cell tumour", "giant cell tumor of bone", "giant cell tumor of bone (morphologic abnormality)", "giant cell tumor of bone NOS (morphologic abnormality)", "giant cell tumor of the bone", "giant cell tumor, benign", "giant cell tumour of bone (morphologic abnormality)", "giant cell tumour of bone NOS (morphologic abnormality)", "giant cell tumour of the bone"], "xref": ["DOID:4305", "EFO:0007176", "GARD:0013046", "HP:0011847", "MEDGEN:64624", "MESH:D018212", "NCIT:C121932", "ONCOTREE:GCTB", "Orphanet:363976", "SCTID:697970009", "UMLS:C0206638"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005677", "name": "Rickettsia conorii infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:0007179", "GARD:0024216"]}
{"category": ["biolink:Disease"], "description": "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.", "id": "MONDO:0005680", "name": "Brill-zinsser disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Brill disease", "Brill's disease", "recrudescent typhus"], "xref": ["DOID:11254", "EFO:0007182", "GARD:0019725", "ICD10CM:A75.1", "ICD9:081.1", "MEDGEN:2730", "Orphanet:99990", "SCTID:47761007", "UMLS:C0006181", "icd11.foundation:1961511435"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.", "id": "MONDO:0005682", "name": "Bronchopneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bronchial pneumonia", "chest infection - unspecified bronchopneumonia", "lobular pneumonia"], "xref": ["DOID:12375", "EFO:0007184", "ICD9:485", "MEDGEN:2737", "MESH:D001996", "NCIT:C26710", "SCTID:396285007", "UMLS:C0006285", "icd11.foundation:57624587"]}
{"category": ["biolink:Disease"], "description": "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.", "id": "MONDO:0005683", "name": "Brucellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["undulant fever"], "xref": ["DOID:11077", "EFO:0007185", "GARD:0005966", "ICD10CM:A23", "ICD10WHO:A23", "ICD9:023", "ICD9:023.9", "MEDGEN:674", "MESH:D002006", "MedDRA:10006500", "NCIT:C84602", "NORD:877", "Orphanet:1304", "SCTID:75702008", "UMLS:C0006309", "icd11.foundation:730510331"]}
{"category": ["biolink:Disease"], "description": "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)", "id": "MONDO:0005684", "name": "Bulbar polio", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bulbar polio", "bulbar poliomyelitis"], "xref": ["DOID:9786", "GARD:0024217", "ICD9:045.0", "MEDGEN:45982", "MESH:D011052", "UMLS:C0032372"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.", "id": "MONDO:0005687", "name": "Caliciviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007189", "MESH:D017250"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus campylobacter.", "id": "MONDO:0005688", "name": "Campylobacteriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13622", "EFO:0007190", "MEDGEN:14296", "MESH:D002169", "SCTID:86500004", "UMLS:C0006818", "icd11.foundation:1012026026"]}
{"category": ["biolink:Disease"], "description": "Physical and psychological dependence on the drug cannabis.", "id": "MONDO:0005689", "name": "Cannabis dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cannabis abuse", "marijuana dependence"], "xref": ["DOID:1849", "DOID:9505", "EFO:0007191", "ICD10CM:F12.2", "ICD9:304.3", "ICD9:304.30", "ICD9:305.2", "MEDGEN:14303", "MESH:D002189", "NCIT:C34445", "SCTID:37344009", "SCTID:85005007", "UMLS:C0006870", "icd11.foundation:1129015467"]}
{"category": ["biolink:Disease"], "description": "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.", "id": "MONDO:0005690", "name": "Caplan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:10326", "EFO:0007192", "GARD:0024218", "MEDGEN:743", "MESH:D002205", "SCTID:398640008", "UMLS:C0006915"]}
{"category": ["biolink:Disease"], "description": "Infections caused by viruses of the genus cardiovirus, family picornaviridae.", "id": "MONDO:0005691", "name": "Cardiovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007194", "MEDGEN:60193", "MESH:D018188", "UMLS:C0206617"]}
{"category": ["biolink:Disease"], "description": "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.", "id": "MONDO:0005692", "name": "Cat-scratch disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cat-scratch fever", "bartonellosis due to Bartonella henselae infection", "benign lymphoreticulosis"], "xref": ["DOID:11258", "EFO:0007195", "GARD:0000027", "ICD10CM:A28.1", "ICD9:078.3", "MEDGEN:2861", "MESH:D002372", "MedDRA:10007729", "NCIT:C84620", "Orphanet:50839", "SCTID:79974007", "UMLS:C0007361", "icd11.foundation:2003001085"]}
{"category": ["biolink:Disease"], "description": "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.", "id": "MONDO:0005693", "name": "Cauda equina syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cauda equina syndromic disease", "syndromic disease of cauda equina"], "xref": ["DOID:11577", "EFO:0007196", "ICD10CM:G83.4", "ICD9:344.6", "MEDGEN:98229", "MESH:D000077684", "NCIT:C35436", "SCTID:192970008", "UMLS:C0392548", "icd11.foundation:1490265028"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.", "id": "MONDO:0005694", "name": "Cecal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["caecum neoplasm", "caecum neoplasm (disease)", "caecum tumor", "caecum tumour", "cecum neoplasm", "cecum tumor", "cecum tumour", "neoplasm of caecum", "neoplasm of cecum", "neoplasm of the cecum", "tumor of caecum", "tumor of cecum", "tumor of the cecum", "tumour of caecum", "tumour of cecum", "tumour of the cecum"], "xref": ["DOID:1517", "EFO:0009255", "MEDGEN:2922", "MESH:D002430", "NCIT:C4433", "SCTID:126839008", "UMLS:C0007528"]}
{"category": ["biolink:Disease"], "description": "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.", "id": "MONDO:0005695", "name": "Central nervous system aids arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AIDS associated cerebral aneurysmal arteriopathy", "AIDS-associated cerebral aneurysmal arteriopathy", "CNS Vasculitides, HIV-1-associated", "CNS Vasculitides, HIV-associated", "CNS vasculitis, HIV associated", "CNS vasculitis, HIV-1-associated", "CNS vasculitis, HIV-associated", "HIV 1 associated CNS vasculitis", "HIV associated vasculitis of the central nervous system", "HIV-1-associated CNS Vasculitides", "HIV-1-associated CNS vasculitis", "HIV-associated CNS Vasculitides", "HIV-associated CNS vasculitis", "HIV-associated vasculitis of the central nervous system", "Vasculitides, HIV-1-associated CNS", "Vasculitides, HIV-associated CNS", "central nervous system AIDS arteritis", "cerebral aneurysmal arteriopathy, AIDS associated", "cerebral aneurysmal arteriopathy, AIDS-associated", "vasculitis of the central nervous system, HIV associated", "vasculitis of the central nervous system, HIV-associated", "vasculitis, HIV-1-associated CNS", "vasculitis, HIV-associated CNS"], "xref": ["GARD:0024219", "MEDGEN:156263", "MESH:D020943", "UMLS:C0752330"]}
{"category": ["biolink:Disease"], "description": "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.", "id": "MONDO:0005696", "name": "Central nervous system tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["central nervous system tuberculosis"], "xref": ["DOID:1638", "EFO:0007199", "GARD:0024220", "ICD9:013.2", "ICD9:013.20", "ICD9:013.35", "MEDGEN:82907", "Orphanet:641396", "SCTID:186217006", "UMLS:C0275904", "icd11.foundation:729372485"]}
{"category": ["biolink:Disease"], "description": "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)", "id": "MONDO:0005697", "name": "Cerebral toxoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Toxoplasma encephalitis"], "xref": ["DOID:10551", "EFO:0007200", "ICD9:130.0", "MEDGEN:38846", "MESH:D016781", "SCTID:192701001", "UMLS:C0085315"]}
{"category": ["biolink:Disease"], "description": "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.", "id": "MONDO:0005698", "name": "Cervical incompetence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9681", "EFO:0007202", "ICD9:622.5", "ICD9:654.50", "MEDGEN:2972", "MESH:D002581", "SCTID:17382005", "UMLS:C0007871"]}
{"category": ["biolink:Disease"], "description": "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.", "id": "MONDO:0005699", "name": "Cervicofacial actinomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024221", "ICD10CM:A42.2", "ICD9:039.3", "MEDGEN:1308", "MESH:D000197", "NCIT:C34351", "SCTID:23014006", "UMLS:C0001264", "icd11.foundation:185601767"]}
{"category": ["biolink:Disease"], "description": "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.", "id": "MONDO:0005700", "name": "Chickenpox", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Varicella", "chicken pox", "chicken pox infection", "chickenpox", "varicella"], "xref": ["DOID:8659", "EFO:0007204", "ICD10CM:B01", "ICD9:052", "ICD9:052.9", "MEDGEN:2995", "MESH:D002644", "NCIT:C97132", "SCTID:38907003", "UMLS:C0008049"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Chlamydia trachomatis.", "id": "MONDO:0005701", "name": "Chlamydia trachomatis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Chlamydia trachomatis caused disease or disorder", "Chlamydia trachomatis disease or disorder", "Chlamydial infection"], "xref": ["DOID:11263", "EFO:0007205", "ICD9:078.88", "ICD9:079.88", "ICD9:079.98", "NCIT:C34463", "SCTID:105629000"]}
{"category": ["biolink:Disease"], "description": "Infections with protozoa of the phylum ciliophora.", "id": "MONDO:0005704", "name": "Ciliophora infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Ciliophora caused disease or disorder", "Ciliophora disease or disorder"], "xref": ["MEDGEN:88379", "MESH:D016770", "UMLS:C0085308"]}
{"category": ["biolink:Disease"], "description": "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)", "id": "MONDO:0005705", "name": "Clonorchiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oriental liver fluke disease"], "xref": ["DOID:13767", "EFO:0007210", "GARD:0024222", "ICD10CM:B66.1", "ICD9:121.1", "MEDGEN:3119", "MESH:D003003", "Orphanet:658917", "SCTID:11938002", "UMLS:C0009021", "icd11.foundation:918986134"]}
{"category": ["biolink:Disease"], "description": "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.", "id": "MONDO:0005706", "name": "Coccidioidomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["California disease", "Coccidioides immitis caused disease or disorder", "Coccidioides immitis disease or disorder", "Coccidioides immitis infectious disease", "Coccidioides infection", "San Joaquin valley fever", "Valley fever", "desert fever", "desert rheumatism"], "xref": ["DOID:13450", "EFO:0007211", "GARD:0009525", "ICD10CM:B38", "ICD10WHO:B38", "ICD9:114", "ICD9:114.1", "ICD9:114.9", "MEDGEN:3137", "MESH:D003047", "MedDRA:10009825", "NCIT:C84642", "Orphanet:228123", "SCTID:23247008", "UMLS:C0009186", "icd11.foundation:132287989"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.", "id": "MONDO:0005707", "name": "Coccidiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["coccidiosis (& [intestinal])"], "xref": ["DOID:2113", "EFO:0007212", "ICD9:007.2", "MEDGEN:3138", "MESH:D003048", "NCIT:C34493", "SCTID:62005008", "UMLS:C0009187"]}
{"category": ["biolink:Disease"], "description": "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.", "id": "MONDO:0005708", "name": "Colorado tick fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["American mountain fever", "Colorado tick encephalitis", "Colorado tick fever virus caused disease or disorder", "Colorado tick fever virus disease or disorder", "Colorado tick fever virus infectious disease", "Colorado tick-borne disease", "Mountain fever", "Mountain tick fever"], "xref": ["DOID:4885", "GARD:0019042", "ICD10CM:A93.2", "ICD9:066.1", "MEDGEN:40398", "MESH:D003121", "MedDRA:10010022", "NORD:989", "Orphanet:83595", "SCTID:6452009", "UMLS:C0009400", "icd11.foundation:951357413"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.", "id": "MONDO:0005709", "name": "Common cold", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute nasopharyngitis", "acute nasopharyngitis [common cold]", "acute rhinitis"], "xref": ["DOID:10459", "EFO:0007214", "ICD10CM:J00", "ICD9:460", "MEDGEN:3179", "MESH:D003139", "NCIT:C34500", "SCTID:82272006", "UMLS:C0009443"]}
{"category": ["biolink:Disease"], "description": "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.", "id": "MONDO:0005710", "name": "Composite lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["composite Hodgkin and non-Hodgkin lymphoma", "composite lymphoma"], "xref": ["DOID:5820", "GARD:0020109", "ICDO:9596/3", "MEDGEN:107468", "MESH:D058617", "NCIT:C38661", "Orphanet:168966", "UMLS:C0545080"]}
{"category": ["biolink:Disease"], "description": "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.", "id": "MONDO:0005711", "name": "Congenital diaphragmatic hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDH", "congenital diaphragmatic hernia"], "xref": ["DOID:3827", "EFO:0007216", "GARD:0001481", "ICD10CM:Q79.0", "MEDGEN:68625", "MESH:D065630", "MedDRA:10010439", "NANDO:1200911", "NANDO:2100040", "NANDO:2200210", "NCIT:C98893", "OMIMPS:142340", "Orphanet:2140", "UMLS:C0235833", "icd11.foundation:1414428936"]}
{"category": ["biolink:Disease"], "description": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)", "id": "MONDO:0005712", "name": "Congenital nystagmus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital idiopathic nystagmus", "congenital pathologic nystagmus", "motor congenital nystagmus", "nystagmus, congenital"], "xref": ["DOID:9649", "EFO:0007217", "HP:0000639", "ICD10CM:H55.01", "ICD9:379.51", "MEDGEN:195995", "MESH:D020417", "OMIMPS:310700", "Orphanet:651", "SCTID:64635004", "UMLS:C0700501", "icd11.foundation:1626567380"]}
{"category": ["biolink:Disease"], "description": "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.", "id": "MONDO:0005714", "name": "Congenital syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTCT of syphilis", "congenital syphilis", "mother-to-child transmission of syphilis"], "xref": ["DOID:9856", "EFO:0007219", "GARD:0022036", "ICD10CM:A50", "ICD10WHO:A50", "ICD9:090", "ICD9:090.9", "MEDGEN:52622", "MESH:D013590", "NCIT:C84649", "NORD:1753", "Orphanet:499009", "SCTID:35742006", "UMLS:C0039131", "icd11.foundation:587996426"]}
{"category": ["biolink:Disease"], "description": "Toxoplasma infection that is present from birth.", "id": "MONDO:0005715", "name": "Congenital toxoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Toxoplasma embryofetopathy", "Toxoplasma embryopathy", "congenital toxoplasmosis", "mother-to-child transmission of toxoplasmosis", "toxoplasmosis, congenital"], "xref": ["DOID:13336", "EFO:0007220", "GARD:0018708", "ICD10CM:P37.1", "ICD9:771.2", "MEDGEN:52799", "MESH:D014125", "MedDRA:10010652", "NANDO:2200892", "NCIT:C50503", "Orphanet:858", "SCTID:73893000", "UMLS:C0040560", "icd11.foundation:1194018225"]}
{"category": ["biolink:Disease"], "description": "A pleuropneumonia of cattle and goats caused by species of mycoplasma.", "id": "MONDO:0005716", "name": "Contagious pleuropneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007221", "MEDGEN:19357", "MESH:D011002", "UMLS:C0032243"]}
{"category": ["biolink:Disease"], "description": "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.", "id": "MONDO:0005717", "name": "Contagious pustular dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ecthyma contagiosum", "ecthyma, Contagious"], "xref": ["DOID:8771", "EFO:0007222", "ICD10CM:B08.02", "ICD9:051.2", "MEDGEN:41702", "MESH:D004474", "SCTID:74050005", "UMLS:C0013570"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by coronaviridae.", "id": "MONDO:0005718", "name": "Coronaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007223", "MEDGEN:40491", "UMLS:C0010078"]}
{"category": ["biolink:Disease"], "description": "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.", "id": "MONDO:0005720", "name": "Cowpox", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8956", "EFO:0007225", "ICD10CM:B08.010", "ICD9:051.01", "MEDGEN:3261", "MESH:D015605", "SCTID:70090004", "UMLS:C0010232", "icd11.foundation:1205745537"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.", "id": "MONDO:0005721", "name": "Coxsackievirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10545", "EFO:0007226", "MEDGEN:1159", "MESH:D003384", "UMLS:C0010246"]}
{"category": ["biolink:Disease"], "description": "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.", "id": "MONDO:0005722", "name": "Croup", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute laryngotracheobronchitis", "acute obstructive laryngitis"], "xref": ["DOID:9395", "EFO:0007227", "ICD10CM:J05.0", "ICD9:464.4", "MEDGEN:3668", "MESH:D003440", "NCIT:C26735", "SCTID:71186008", "UMLS:C0010380"]}
{"category": ["biolink:Disease"], "description": "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)", "id": "MONDO:0005723", "name": "Cryptococcal meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cryptococcus neoformans caused infectious meningitis", "Cryptococcus neoformans infectious meningitis"], "xref": ["DOID:0080159", "EFO:0007228", "GARD:0024223", "ICD9:321.0", "MEDGEN:88410", "MESH:D016919", "NCIT:C174113", "SCTID:14232007", "UMLS:C0085436"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004", "id": "MONDO:0005724", "name": "Cryptococcosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cryptococcus neoformans caused disease or disorder", "Cryptococcus neoformans disease or disorder", "Cryptococcus neoformans infectious disease", "torulosis"], "xref": ["DOID:12053", "EFO:0007229", "GARD:0006218", "ICD10CM:B45", "ICD10WHO:B45", "ICD9:117.5", "MEDGEN:8189", "MESH:D003453", "MedDRA:10011490", "NCIT:C2967", "NORD:1019", "Orphanet:1546", "SCTID:42386007", "UMLS:C0010414", "icd11.foundation:390527954"]}
{"category": ["biolink:Disease"], "description": "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.", "id": "MONDO:0005725", "name": "Cyclosporiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cyclospora caused disease or disorder", "Cyclospora cayetanensis caused disease or disorder", "Cyclospora cayetanensis disease or disorder", "Cyclospora cayetanensis infectious disease", "Cyclospora disease or disorder", "Cyclospora infectious disease", "cyclosporosis", "infection of intestine caused by Cyclospora cayetanensis", "intestinal infection caused by Cyclospora cayetanensis"], "xref": ["DOID:12750", "EFO:0007230", "GARD:0009528", "ICD10CM:A07.4", "ICD9:007.5", "MEDGEN:91014", "MESH:D021866", "NCIT:C128409", "Orphanet:210", "SCTID:240372001", "SCTID:716860005", "UMLS:C0343398", "icd11.foundation:833744511"]}
{"category": ["biolink:Disease"], "description": "A disease involving the diaphragm.", "id": "MONDO:0005728", "name": "Diaphragm disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diaphragm disease", "diaphragm disease or disorder", "disease of diaphragm", "disease or disorder of diaphragm", "disorder of diaphragm"], "xref": ["DOID:10481", "EFO:0007233", "GARD:0024224", "ICD9:519.4", "MEDGEN:508886", "SCTID:48475001", "UMLS:C0152097"]}
{"category": ["biolink:Disease"], "description": "Infection with flukes of the genus Dicrocoelium.", "id": "MONDO:0005729", "name": "Dicrocoeliasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dicrocoelium caused disease or disorder", "Dicrocoelium disease or disorder", "Dicrocoelium infectious disease"], "xref": ["DOID:1219", "ICD9:121.8", "MEDGEN:3813", "MESH:D004011", "SCTID:105668007", "UMLS:C0012102", "icd11.foundation:1114361195"]}
{"category": ["biolink:Disease"], "description": "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.", "id": "MONDO:0005736", "name": "Eastern equine encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Eastern equine encephalomyelitis", "Neuroinvasive Eastern equine encephalitis virus infection"], "xref": ["DOID:10841", "EFO:0007242", "GARD:0010821", "ICD10CM:A83.2", "ICD9:062.2", "MEDGEN:102258", "MESH:D020242", "MedDRA:10014587", "Orphanet:83594", "UMLS:C0153065", "icd11.foundation:682536148"]}
{"category": ["biolink:Disease"], "description": "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.", "id": "MONDO:0005737", "name": "Ebola hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EHF", "Ebola", "Ebola fever", "Ebola virus disease", "Ebolavirus caused disease or disorder", "Ebolavirus disease or disorder", "Ebolavirus infectious disease"], "xref": ["DOID:4325", "EFO:0007243", "GARD:0002035", "ICD10CM:A98.4", "MEDGEN:129219", "MESH:D019142", "MedDRA:10014071", "NCIT:C36171", "Orphanet:319218", "SCTID:37109004", "UMLS:C0282687", "icd11.foundation:792755706"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.", "id": "MONDO:0005738", "name": "Echinococcosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Echinococcus caused disease or disorder", "Echinococcus disease or disorder", "Echinococcus infectious disease", "echinococcosis"], "xref": ["DOID:1496", "EFO:0007245", "ICD10CM:B67", "ICD10WHO:B67", "ICD9:122", "ICD9:122.9", "MEDGEN:4438", "MESH:D004443", "NCIT:C84682", "SCTID:74942003", "UMLS:C0013502", "icd11.foundation:1456802165"]}
{"category": ["biolink:Disease"], "description": "Infection by flukes of the genus Echinostoma.", "id": "MONDO:0005739", "name": "Echinostomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Echinostomatoidea caused disease or disorder", "Echinostomatoidea disease or disorder", "Echinostomatoidea infectious disease"], "xref": ["DOID:1218", "EFO:0007246", "ICD9:121.8", "MEDGEN:3956", "MESH:D004451", "SCTID:52918004", "UMLS:C0013514", "icd11.foundation:342249036"]}
{"category": ["biolink:Disease"], "description": "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.", "id": "MONDO:0005740", "name": "Echovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Echovirus caused disease or disorder", "Echovirus disease or disorder"], "xref": ["EFO:0007247", "MEDGEN:41697", "MESH:D004457", "SCTID:271532008", "UMLS:C0013533"]}
{"category": ["biolink:Disease"], "description": "Cholecystitis resulting from infection by gas producing organisms.", "id": "MONDO:0005742", "name": "Emphysematous cholecystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["gaseous pericholecystitis"], "xref": ["DOID:9765", "GARD:0024225", "MEDGEN:101072", "MESH:D041882", "NCIT:C35592", "SCTID:95558008", "UMLS:C0521610", "icd11.foundation:1530167960"]}
{"category": ["biolink:Disease"], "description": "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.", "id": "MONDO:0005743", "name": "Encephalitozoonosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4270", "EFO:0007250", "GARD:0024226", "ICD9:136.8", "MEDGEN:39043", "MESH:D016890", "SCTID:12825006", "UMLS:C0085412"]}
{"category": ["biolink:Disease"], "description": "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.", "id": "MONDO:0005744", "name": "Yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["endodermal sinus neoplasm", "endodermal sinus tumor", "hepatoid yolk sac tumor", "yolk SAC tumor, malignant", "yolk Sac neoplasm", "yolk Sac tumor", "yolk Sac tumor site unspecified", "yolk Sac tumour site unspecified", "yolk sac tumor"], "xref": ["DOID:1911", "EFO:0007252", "GARD:0000348", "ICDO:9071/3", "MEDGEN:41782", "MedDRA:10048251", "NANDO:2200069", "NCIT:C3011", "ONCOTREE:BYST", "Orphanet:876", "SCTID:404081005", "UMLS:C0014145"]}
{"category": ["biolink:Disease"], "description": "Infections with nematodes of the order enoplida.", "id": "MONDO:0005745", "name": "Enoplea infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Enoplea caused disease or disorder", "Enoplea disease or disorder"], "xref": ["MESH:D017189"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.", "id": "MONDO:0005746", "name": "Enterobiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Enterobius vermicularis caused disease or disorder", "Enterobius vermicularis disease or disorder", "Enterobius vermicularis infectious disease", "threadworm infection"], "xref": ["DOID:7457", "EFO:0007254", "GARD:0027727", "ICD10CM:B80", "ICD10WHO:B80", "ICD9:127.4", "MEDGEN:88540", "MESH:D017229", "NCIT:C128396", "SCTID:266162007", "UMLS:C0086227", "icd11.foundation:580098307"]}
{"category": ["biolink:Disease"], "description": "An disease caused by infection with Enterovirus.", "id": "MONDO:0005747", "name": "Enterovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Enterovirus caused disease or disorder", "Enterovirus disease or disorder", "Enterovirus infectious disease", "disease due to enterovirus", "enterovirus infectious disease"], "xref": ["EFO:0007255", "ICD9:079.89", "MEDGEN:8647", "MESH:D004769", "SCTID:53648006", "UMLS:C0014378"]}
{"category": ["biolink:Disease"], "description": "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.", "id": "MONDO:0005749", "name": "Eosinophilic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["eosinophilic pneumonia"], "xref": ["DOID:5870", "EFO:0007257", "GARD:0027348", "MEDGEN:282904", "NCIT:C35150", "UMLS:C1527407"]}
{"category": ["biolink:Disease"], "description": "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.", "id": "MONDO:0005751", "name": "Epidemic pleurodynia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bornholm disease", "epidemic myalgia"], "xref": ["DOID:10882", "ICD10CM:B33.0", "ICD9:074.1", "MEDGEN:19355", "MESH:D011000", "SCTID:83264000", "UMLS:C0032238"]}
{"category": ["biolink:Disease"], "description": "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)", "id": "MONDO:0005752", "name": "Epidural abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extradural intraspinal abscess", "intraspinal epidural abscess", "intraspinal extradural abscess", "spinal epidural abscess", "spinal epidural abscess (disorder)", "spinal extradural abscess"], "xref": ["DOID:11387", "EFO:0007260", "GARD:0024227", "MEDGEN:82848", "MESH:D020802", "SCTID:61974008", "UMLS:C0270629"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the epiglottis.", "id": "MONDO:0005753", "name": "Epiglottitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of mucosa of epiglottis", "mucosa of epiglottis inflammation", "supraglottitis"], "xref": ["DOID:9398", "EFO:0007261", "ICD9:464.3", "MEDGEN:4505", "MESH:D004826", "NCIT:C116007", "SCTID:80384002", "UMLS:C0014541"]}
{"category": ["biolink:Disease"], "description": "A generalized tonic-clonic seizure.", "id": "MONDO:0005754", "name": "Epilepsy with generalized tonic-clonic seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EGTCA", "epilepsy with generalized tonic-clonic seizures alone", "grand Mal epilepsy", "tonic-clonic epilepsy"], "xref": ["DOID:7725", "EFO:0007262", "GARD:0024228", "ICD9:345.10", "MEDGEN:4987", "MESH:D004830", "NCIT:C3022", "Orphanet:698005", "SCTID:352818000", "UMLS:C0014549"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.", "id": "MONDO:0005756", "name": "Ethmoid sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ethmoid bone sinusitis", "ethmoidal sinusitis", "sinusitis of ethmoid bone"], "xref": ["DOID:9507", "EFO:0007264", "MEDGEN:5046", "MESH:D015521", "NCIT:C34597", "SCTID:18643000", "UMLS:C0015029"]}
{"category": ["biolink:Disease"], "description": "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.", "id": "MONDO:0005757", "name": "Eumycotic mycetoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eumycetoma", "maduromycosis"], "xref": ["DOID:13078", "EFO:0007265", "ICD10CM:B47.0", "ICD9:117.4", "MEDGEN:390045", "SCTID:410038006", "UMLS:C2350621"]}
{"category": ["biolink:Disease"], "description": "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.", "id": "MONDO:0005758", "name": "Eunuchism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Primary testicular failure"], "xref": ["DOID:5003", "EFO:0007266", "ICD9:257.2", "MEDGEN:65949", "MESH:D005058", "NCIT:C131195", "SCTID:267403002", "UMLS:C0238117"]}
{"category": ["biolink:Disease"], "description": "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.", "id": "MONDO:0005759", "name": "Fascioloidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1217", "MEDGEN:8791", "MESH:D005213", "SCTID:69550000", "UMLS:C0015655"]}
{"category": ["biolink:Disease"], "description": "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.", "id": "MONDO:0005761", "name": "Filarial elephantiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["eyelid elephantiasis"], "xref": ["DOID:12211", "EFO:0007272", "GARD:0003321", "ICD9:374.83", "MEDGEN:8583", "MESH:D004605", "MedDRA:10016675", "NCIT:C128360", "NORD:1082", "Orphanet:2035", "SCTID:14100003", "SCTID:240820001", "UMLS:C0013884", "icd11.foundation:247221550"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.", "id": "MONDO:0005762", "name": "Filoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Filoviridae caused disease or disorder", "Filoviridae disease or disorder"], "xref": ["MEDGEN:67006", "MESH:D018702", "UMLS:C0242917"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the family flaviviridae.", "id": "MONDO:0005763", "name": "Flaviviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Flaviviridae caused disease or disorder", "Flaviviridae disease or disorder"], "xref": ["EFO:0007274", "MESH:D018178", "SCTID:111865007"]}
{"category": ["biolink:Disease"], "description": "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.", "id": "MONDO:0005764", "name": "Follicular dendritic cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["follicular Dendritic cell sarcoma", "follicular Dendritic cell sarcoma/tumor", "follicular dendritic cell sarcoma", "follicular dendritic cell tumor", "sarcoma of follicular dendritic cell"], "xref": ["DOID:6262", "EFO:0007276", "GARD:0019081", "ICDO:9758/1", "ICDO:9758/3", "MEDGEN:220355", "MESH:D054740", "NANDO:2200034", "NCIT:C9281", "ONCOTREE:FDCS", "Orphanet:86902", "UMLS:C1260325", "icd11.foundation:149373156", "icd11.foundation:15445528"]}
{"category": ["biolink:Disease"], "description": "Pulmonary diseases caused by fungal infections, usually through hematogenous spread.", "id": "MONDO:0005766", "name": "Fungal lung infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Fungi caused lung disease", "Fungi lung disease"], "xref": ["EFO:0007278", "MEDGEN:6144", "MESH:D008172", "UMLS:C0024116"]}
{"category": ["biolink:Disease"], "description": "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.", "id": "MONDO:0005767", "name": "Gas gangrene", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["gas gangrene", "myonecrosis"], "xref": ["DOID:9159", "EFO:0007279", "GARD:0024229", "ICD10CM:A48.0", "ICD9:040.0", "MEDGEN:8959", "MESH:D005738", "SCTID:80466000", "UMLS:C0017105", "icd11.foundation:1920227791"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.", "id": "MONDO:0005768", "name": "Gastrointestinal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculosis of intestines, peritoneum, and mesenteric glands"], "xref": ["DOID:404", "EFO:0007280", "GARD:0024230", "ICD9:014.80", "ICD9:014.81", "ICD9:014.86", "MEDGEN:52885", "MESH:D014385", "SCTID:186225008", "UMLS:C0041312"]}
{"category": ["biolink:Disease"], "description": "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.", "id": "MONDO:0005769", "name": "Geniculate herpes zoster", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Herpes Zoster Oticus", "Ramsay Hunt Syndrome", "Ramsay Hunt syndrome", "facial nerve palsy due to VZV", "facial nerve palsy due to herpes zoster infection", "facial nerve paralysis due to VZV"], "xref": ["DOID:9210", "EFO:0007281", "GARD:0007525", "ICD9:053.11", "ICD9:351.8", "MEDGEN:6581", "NCIT:C84763", "NORD:1647", "Orphanet:3020", "SCTID:95670000", "UMLS:C0017409"]}
{"category": ["biolink:Disease"], "description": "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.", "id": "MONDO:0005770", "name": "Genital herpes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["herpes genitalia", "herpes genitalis"], "xref": ["DOID:8704", "EFO:0007282", "ICD9:054.1", "ICD9:054.10", "ICD9:054.19", "MEDGEN:42436", "MESH:D006558", "NCIT:C14364", "SCTID:33839006", "UMLS:C0019342"]}
{"category": ["biolink:Disease"], "description": "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.", "id": "MONDO:0005771", "name": "Geographic tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign migratory glossitis", "glossitis areata exfoliativa"], "xref": ["DOID:1455", "EFO:0007283", "ICD10CM:K14.1", "ICD9:529.1", "MEDGEN:6619", "NCIT:C84588", "SCTID:59032001", "UMLS:C0017677", "icd11.foundation:1460387786"]}
{"category": ["biolink:Disease"], "description": "Infection due to the fungus Geotrichum.", "id": "MONDO:0005772", "name": "Geotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2832", "ICD10CM:B48.3", "ICD9:117.9", "MEDGEN:42202", "MESH:D005847", "SCTID:13969006", "UMLS:C0017455", "icd11.foundation:1432903072"]}
{"category": ["biolink:Disease"], "description": "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.", "id": "MONDO:0005773", "name": "Gerstmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4969", "EFO:0007285", "GARD:0008660", "ICD9:784.69", "MEDGEN:42208", "MESH:D005862", "MedDRA:10048608", "NORD:1180", "Orphanet:221117", "SCTID:36785009", "UMLS:C0017494", "icd11.foundation:1121787098"]}
{"category": ["biolink:Disease"], "description": "A condition resulting from infection by Burkholderia mallei, which mainly affects horses.", "id": "MONDO:0005774", "name": "Glanders", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Burkholderia mallei caused disease or disorder", "Burkholderia mallei disease or disorder", "Burkholderia mallei infectious disease", "farcy pipes", "infection due to Pseudomonas mallei"], "xref": ["DOID:13444", "EFO:0007286", "GARD:0027050", "ICD10CM:A24.0", "ICD9:024", "MEDGEN:42221", "MESH:D005896", "NCIT:C34638", "Orphanet:659908", "SCTID:4639008", "UMLS:C0017589", "icd11.foundation:1563156715"]}
{"category": ["biolink:Disease"], "description": "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.", "id": "MONDO:0005775", "name": "G6pd deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["G-6-PD variant enzyme deficiency Anaemia", "G-6-PD variant enzyme deficiency Anemia", "G6PD", "G6PD deficiency", "glucose-6-phosphate dehydrogenase deficiency", "glucosephosphate dehydrogenase deficiency", "inborn error of glucose-6-phosphate dehydrogenase activity", "inborn glucose-6-phosphate dehydrogenase activity disorder", "rare inborn error of glucose-6-phosphate dehydrogenase activity"], "xref": ["DOID:2862", "EFO:0007287", "MEDGEN:473706", "MESH:D005955", "NANDO:2200627", "NCIT:C98933", "SCTID:62403005", "UMLS:C2939465"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).", "id": "MONDO:0005776", "name": "Gnathomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Gnathostomiasis"], "xref": ["DOID:11379", "EFO:0007289", "GARD:0009286", "ICD10CM:B83.1", "ICD9:128.1", "MEDGEN:6651", "MESH:D058429", "NCIT:C128395", "SCTID:44086001", "UMLS:C0018013"]}
{"category": ["biolink:Disease"], "description": "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.", "id": "MONDO:0005777", "name": "Granuloma inguinale", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["donovanosis", "granuloma inguinale"], "xref": ["DOID:9113", "EFO:0007291", "ICD10CM:A58", "ICD10WHO:A58", "ICD9:099.2", "MEDGEN:42291", "MESH:D006100", "NCIT:C3065", "SCTID:28867007", "UMLS:C0018190", "icd11.foundation:764124124"]}
{"category": ["biolink:Disease"], "description": "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.", "id": "MONDO:0005778", "name": "Haemonchiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3332", "MEDGEN:42320", "MESH:D006188", "UMLS:C0018477"]}
{"category": ["biolink:Disease"], "description": "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.", "id": "MONDO:0005779", "name": "Hand, foot and mouth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["HFMD", "hand foot and mouth disease", "hand, foot, and mouth disease"], "xref": ["DOID:10881", "EFO:0007294", "ICD10CM:B08.4", "ICD9:074.3", "MEDGEN:42330", "MESH:D006232", "NCIT:C128439", "SCTID:266108008", "UMLS:C0018572"]}
{"category": ["biolink:Disease"], "description": "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.", "id": "MONDO:0005780", "name": "Hantavirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hantavirus caused disease or disorder", "Hantavirus disease or disorder", "Hantavirus infection", "Hantavirus infectious disease", "disease due to hantavirus"], "xref": ["EFO:0007295", "ICD9:079.81", "MEDGEN:67028", "MESH:D018778", "NCIT:C3899", "SCTID:359761005", "UMLS:C0242994"]}
{"category": ["biolink:Disease"], "description": "An accumulation of blood within the pericardial sac.", "id": "MONDO:0005783", "name": "Hemopericardium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["haemopericardium", "hemopericardium", "hemopericardium (disease)"], "xref": ["DOID:11482", "EFO:0007298", "HP:0011851", "ICD9:423.0", "MEDGEN:6795", "SCTID:23412002", "UMLS:C0019064", "icd11.foundation:304055010"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.", "id": "MONDO:0005784", "name": "Hantavirus hemorrhagic fever with renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["HFRS", "hemorrhagic nephrosonephritis"], "xref": ["DOID:11266", "GARD:0027728", "ICD10CM:A98.5", "ICD9:078.6", "NCIT:C84753", "SCTID:102455002"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus henipavirus, family paramyxoviridae.", "id": "MONDO:0005785", "name": "Henipavirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Henipavirus caused disease or disorder", "Henipavirus disease or disorder", "Henipavirus infectious disease"], "xref": ["EFO:0007300", "MESH:D045464"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the hepadnaviridae.", "id": "MONDO:0005786", "name": "Hepadnaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hepadnaviridae caused disease or disorder", "Hepadnaviridae disease or disorder"], "xref": ["MEDGEN:64649", "MESH:D018347", "UMLS:C0206746"]}
{"category": ["biolink:Disease"], "description": "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.", "id": "MONDO:0005787", "name": "Hepatic tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculosis of liver"], "xref": ["DOID:407", "EFO:0007302", "GARD:0024231", "ICD9:017.90", "MEDGEN:11944", "MESH:D014386", "SCTID:186273003", "UMLS:C0041313", "icd11.foundation:742775377"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.", "id": "MONDO:0005788", "name": "Hepatitis e virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hepatitis E virus caused hepatitis", "Hepatitis E virus hepatitis", "hepatitis type E"], "xref": ["DOID:4411", "EFO:0007303", "MEDGEN:88376", "MESH:D016751", "SCTID:7111000119109", "UMLS:C0085293"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.", "id": "MONDO:0005789", "name": "Hepatitis d virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDV", "Hepatitis D", "Hepatitis D virus", "Hepatitis delta virus caused hepatitis", "Hepatitis delta virus hepatitis", "hepatitis delta", "hepatitis type D"], "xref": ["DOID:2047", "EFO:0007304", "GARD:0021716", "ICD9:070.52", "MEDGEN:4182", "MESH:D003699", "NORD:2020", "Orphanet:402823", "SCTID:707341005", "UMLS:C0011226"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.", "id": "MONDO:0005790", "name": "Hepatitis a virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hepatitis A", "Hepatitis A infection", "hepatitis type A"], "xref": ["DOID:12549", "EFO:0007305", "MEDGEN:42418", "MESH:D006506", "NCIT:C3096", "SCTID:40468003", "UMLS:C0019159"]}
{"category": ["biolink:Disease"], "description": "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.", "id": "MONDO:0005791", "name": "Herpangina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10883", "EFO:0007306", "ICD10CM:B08.5", "ICD9:074.0", "MEDGEN:42435", "MESH:D006557", "SCTID:274102007", "UMLS:C0019338"]}
{"category": ["biolink:Disease"], "description": "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.", "id": "MONDO:0005792", "name": "Herpes simplex virus gingivostomatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Simplexvirus caused stomatitis", "Simplexvirus stomatitis"], "xref": ["EFO:0007307", "MESH:D013283", "SCTID:57920007"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the herpesviridae.", "id": "MONDO:0005794", "name": "Herpesviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Herpesviridae caused disease or disorder", "Herpesviridae disease or disorder", "Herpesviridae infections", "herpesvirus infection"], "xref": ["EFO:0007309", "MESH:D006566", "SCTID:23513009"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)", "id": "MONDO:0005796", "name": "Hiv enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007311", "MEDGEN:79492", "MESH:D019053", "UMLS:C0282616"]}
{"category": ["biolink:Disease"], "description": "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).", "id": "MONDO:0005797", "name": "Hiv wasting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0007312", "GARD:0019122", "MEDGEN:87476", "MESH:D019247", "Orphanet:90081", "UMLS:C0343755"]}
{"category": ["biolink:Disease"], "description": "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.", "id": "MONDO:0005798", "name": "Hiv-associated nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIDS-associated nephropathy", "AIDS-related nephropathy", "HIV nephropathy", "HIVAN"], "xref": ["EFO:0007313", "GARD:0024232", "MEDGEN:37145", "MESH:D016263", "NCIT:C26918", "UMLS:C0078911"]}
{"category": ["biolink:Disease"], "description": "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.", "id": "MONDO:0005799", "name": "Hookworm infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007314"]}
{"category": ["biolink:Disease"], "description": "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.", "id": "MONDO:0005800", "name": "Hordeolum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stye", "blepharitis of eyelid gland", "eyelid gland blepharitis"], "xref": ["DOID:9909", "MEDGEN:6884", "MESH:D006726", "NCIT:C118722", "SCTID:397513003", "UMLS:C0019917", "icd11.foundation:1259721857"]}
{"category": ["biolink:Disease"], "description": "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.", "id": "MONDO:0005801", "name": "Human t-lymphotropic virus 1 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Human T-lymphotropic virus 1 caused disease or disorder", "Human T-lymphotropic virus 1 disease or disorder", "Human T-lymphotropic virus 1 infectious disease", "human T-lymphotropic virus 1 infectious disease"], "xref": ["EFO:0007316", "GARD:0009645", "MEDGEN:6919", "MESH:D015490", "UMLS:C0020097"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.", "id": "MONDO:0005802", "name": "Hymenolepiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dwarf tapeworm infection", "hymenolepiasis"], "xref": ["DOID:10074", "EFO:0007317", "GARD:0002787", "ICD10CM:B71.0", "ICD9:123.6", "MEDGEN:43772", "MESH:D006925", "MedDRA:10020546", "NCIT:C84768", "Orphanet:401", "SCTID:44917000", "UMLS:C0020413", "icd11.foundation:2028864113"]}
{"category": ["biolink:Disease"], "description": "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.", "id": "MONDO:0005803", "name": "Hyperinsulinemic hypoglycemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemia hypoglycemia", "hyperinsulinemic hypoglycemia (disease)"], "xref": ["DOID:13317", "EFO:0007318", "GARD:0021849", "HP:0000825", "MEDGEN:351247", "NANDO:2100143", "NANDO:2200399", "OMIMPS:256450", "Orphanet:443095", "SCTID:42681006", "UMLS:C1864903"]}
{"category": ["biolink:Disease"], "description": "Abnormally high level of prolactin in the blood.", "id": "MONDO:0005804", "name": "Hyperprolactinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperprolactinaemia", "hyperprolactinemia", "hyperprolactinemia (disease)"], "xref": ["EFO:0007319", "HP:0000870", "ICD10CM:E22.1", "ICD9:253.1", "MEDGEN:5698", "MESH:D006966", "NANDO:2100115", "NANDO:2200322", "SCTID:237662005", "UMLS:C0020514"]}
{"category": ["biolink:Disease"], "description": "Infestation with larvae of the genus Hypoderma, the warble fly.", "id": "MONDO:0005805", "name": "Hypodermyiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Oestridae caused disease or disorder", "Oestridae disease or disorder", "Oestridae infectious disease"], "xref": ["DOID:12926", "GARD:0002883", "MEDGEN:5708", "MESH:D007000", "Orphanet:430", "UMLS:C0020607"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the hypopharynx.", "id": "MONDO:0005806", "name": "Hypopharynx cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypopharyngeal cancer", "hypopharynx pharynx cancer", "hypural pharynx cancer", "malignant hypopharyngeal neoplasm", "malignant hypopharyngeal tumor", "malignant hypopharyngeal tumour", "malignant neoplasm of hypopharynx", "malignant neoplasm of ill-defined sites within the lip and oral cavity", "malignant neoplasm of other specified hypopharyngeal site", "malignant neoplasm of other specified sites of hypopharynx", "malignant neoplasm of posterior hypopharyngeal wall", "malignant neoplasm of posterior wall of hypopharynx", "malignant neoplasm of the hypopharynx", "malignant tumor of hypopharynx", "malignant tumor of posterior wall of hypopharynx", "malignant tumor of the hypopharynx", "malignant tumour of posterior wall of hypopharynx", "malignant tumour of the hypopharynx", "pharynx cancer of hypopharynx"], "xref": ["DOID:8533", "EFO:0007321", "GARD:0009334", "ICD10CM:C13", "ICD9:148", "ICD9:148.3", "ICD9:148.9", "MEDGEN:102266", "MESH:D007012", "NCIT:C7190", "SCTID:303012000", "UMLS:C0153398", "icd11.foundation:826670225"]}
{"category": ["biolink:Disease"], "description": "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.", "id": "MONDO:0005807", "name": "Idiopathic cd4-positive t-lymphocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "xref": ["DOID:3109", "GARD:0024233", "MEDGEN:64647", "MESH:D018344", "NCIT:C84780", "UMLS:C0206744"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.", "id": "MONDO:0005808", "name": "Inclusion conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Chlamydial conjunctivitis", "neonatal Chlamydia conjunctivitis"], "xref": ["DOID:13800", "EFO:0007324", "ICD10CM:A74.0", "ICD9:077.0", "ICD9:077.98", "MEDGEN:1095", "MESH:D003235", "NCIT:C116817", "SCTID:231861005", "UMLS:C0009770"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.", "id": "MONDO:0005810", "name": "Infectious mononucleosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Gammaherpesviral mononucleosis", "Mono", "glandular fever"], "xref": ["DOID:8568", "EFO:0007326", "ICD10WHO:B27", "ICD9:075", "MEDGEN:7069", "MESH:D007244", "NANDO:1200668", "NANDO:2200976", "NCIT:C34726", "SCTID:186668002", "UMLS:C0021345", "icd11.foundation:760139952"]}
{"category": ["biolink:Disease"], "description": "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.", "id": "MONDO:0005812", "name": "Influenza", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Influenza with other manifestations", "flu", "influenza infection", "orthomyxoviridae caused disease or disorder", "orthomyxoviridae disease or disorder", "orthomyxoviridae infectious disease"], "xref": ["DOID:8469", "EFO:0007328", "ICD9:487", "ICD9:487.8", "MEDGEN:9466", "MESH:D007251", "MESH:D009976", "NCIT:C53482", "SCTID:61700007", "UMLS:C0021400", "icd11.foundation:145723401"]}
{"category": ["biolink:Disease"], "description": "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)", "id": "MONDO:0005813", "name": "Interdigitating dendritic cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["interdigitating Dendritic cell sarcoma", "interdigitating Dendritic cell sarcoma/tumor", "interdigitating cell sarcoma/tumor"], "xref": ["DOID:7848", "EFO:0007329", "GARD:0024234", "ICDO:9757/1", "ICDO:9757/3", "MEDGEN:266040", "MESH:D054739", "NANDO:2200035", "NCIT:C9282", "ONCOTREE:IDCS", "SCTID:715664005", "UMLS:C1260326", "icd11.foundation:2024362257", "icd11.foundation:214592620"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the intestine", "id": "MONDO:0005814", "name": "Intestinal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bowel cancer", "cancer of intestine", "cancer of the intestine", "intestinal cancer", "intestinal neoplasms, malignant", "intestinal tumors, malignant", "intestine cancer", "malignant intestinal neoplasm", "malignant intestinal neoplasms", "malignant intestinal tumor", "malignant intestinal tumors", "malignant intestinal tumour", "malignant intestinal tumours", "malignant intestine neoplasm", "malignant intestine tumor", "malignant intestine tumour", "malignant neoplasm of intestine", "malignant neoplasm of the intestine", "malignant tumor of intestine", "malignant tumor of the intestine", "malignant tumour of intestine", "malignant tumour of the intestine"], "xref": ["DOID:10155", "EFO:0007330", "ICD9:159.0", "MEDGEN:87562", "MESH:D007414", "NCIT:C4572", "SCTID:363508008", "UMLS:C0346627", "icd11.foundation:150210507"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).", "id": "MONDO:0005815", "name": "Pancreatic neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PNEN", "endocrine pancreas neoplasm", "endocrine pancreas neoplasm (disease)", "endocrine pancreas tumor", "endocrine pancreas tumour", "neoplasm of endocrine pancreas", "pancreatic NEN", "pancreatic endocrine neoplasm", "pancreatic neuroendocrine neoplasm", "tumor of endocrine pancreas", "tumour of endocrine pancreas"], "xref": ["DOID:1799", "EFO:0007331", "GARD:0022052", "ICDO:8150/1", "MEDGEN:1848937", "NCIT:C27031", "Orphanet:506052", "SCTID:254611009", "UMLS:C5848399", "icd11.foundation:1421495979"]}
{"category": ["biolink:Disease"], "description": "Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.", "id": "MONDO:0005817", "name": "Kluver-bucy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KLüver-Bucy syndrome"], "xref": ["DOID:2510", "EFO:0007335", "GARD:0006840", "MEDGEN:124361", "MESH:D020232", "MedDRA:10066431", "NCIT:C84802", "NORD:1338", "Orphanet:157823", "SCTID:10651001", "UMLS:C0270707"]}
{"category": ["biolink:Disease"], "description": "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.", "id": "MONDO:0005819", "name": "Laryngeal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["larynx tuberculosis", "tuberculous laryngitis"], "xref": ["DOID:1583", "EFO:0007337", "GARD:0024235", "ICD9:012.3", "ICD9:012.30", "ICD9:012.31", "ICD9:012.32", "MEDGEN:11945", "MESH:D014387", "NCIT:C26895", "SCTID:70341005", "UMLS:C0041315"]}
{"category": ["biolink:Disease"], "description": "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.", "id": "MONDO:0005820", "name": "Lassa fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LF", "Lassa hemorrhagic fever"], "xref": ["DOID:9537", "EFO:0007338", "GARD:0019688", "ICD10CM:A96.2", "ICD9:078.89", "MEDGEN:7276", "MESH:D007835", "MedDRA:10023927", "NCIT:C128418", "Orphanet:99824", "SCTID:19065005", "UMLS:C0023092", "icd11.foundation:515020316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0005821", "name": "Late congenital syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["late congenital syphilis", "late congenital syphilis (2 years or more)"], "xref": ["DOID:10039", "GARD:0024236", "ICD9:090.4", "ICD9:090.40", "ICD9:090.5", "ICD9:090.7", "MEDGEN:640497", "SCTID:82323002", "UMLS:C0554634", "icd11.foundation:1685932952"]}
{"category": ["biolink:Disease"], "description": "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.", "id": "MONDO:0005822", "name": "Latent syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:9531", "EFO:0007340", "GARD:0027729", "ICD9:097.1", "MEDGEN:21056", "MESH:D013592", "NCIT:C35056", "SCTID:444150000", "UMLS:C0039133"]}
{"category": ["biolink:Disease"], "description": "Any disease caused by Legionella bacteria.", "id": "MONDO:0005823", "name": "Legionellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Legionella infection"], "xref": ["DOID:10458", "EFO:0007342", "GARD:0022419", "MEDGEN:7292", "MESH:D007876", "MedDRA:10035718", "MedDRA:10061266", "NCIT:C128334", "Orphanet:600832", "SCTID:26726000", "UMLS:C0023240", "icd11.foundation:390042715"]}
{"category": ["biolink:Disease"], "description": "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.", "id": "MONDO:0005824", "name": "Legionnaires' disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Legionella pneumonia", "Legionnaires' Disease"], "xref": ["DOID:10457", "EFO:0007343", "GARD:0024237", "ICD10CM:A48.1", "ICD9:482.84", "MEDGEN:9705", "MESH:D007877", "NCIT:C128339", "NORD:1354", "Orphanet:549", "SCTID:195889001", "UMLS:C0023241", "icd11.foundation:424434722"]}
{"category": ["biolink:Disease"], "description": "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.", "id": "MONDO:0005825", "name": "Leptospirosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leptospira caused disease or disorder", "Leptospira disease or disorder", "Leptospira infectious disease", "leptospirosis", "nanukayami fever"], "xref": ["DOID:2297", "EFO:0007344", "GARD:0007881", "ICD10CM:A27", "ICD10WHO:A27", "ICD9:100", "ICD9:100.0", "ICD9:100.89", "ICD9:100.9", "MEDGEN:7309", "MESH:D007922", "MedDRA:10024238", "NCIT:C84825", "NORD:1363", "Orphanet:509", "SCTID:77377001", "UMLS:C0023364", "icd11.foundation:751399056"]}
{"category": ["biolink:Disease"], "description": "Pneumonia due to aspiration or inhalation of various oily or fatty substances.", "id": "MONDO:0005826", "name": "Lipid pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lipoid pneumonitis", "lipoidpneumonitis"], "xref": ["DOID:3241", "EFO:0007345", "MEDGEN:19362", "MESH:D011017", "SCTID:707449006", "UMLS:C0032298"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.", "id": "MONDO:0005827", "name": "Lipoatrophic diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diabete, lipoatrophic", "lipoatrophic diabetes"], "xref": ["DOID:11712", "EFO:0007346", "MEDGEN:4256", "MESH:D003923", "NANDO:2200465", "NCIT:C34537", "SCTID:127012008", "UMLS:C0011859"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.", "id": "MONDO:0005828", "name": "Listeriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Listeria infection", "Listeria monocytogenes caused disease or disorder", "Listeria monocytogenes disease or disorder", "Listeria monocytogenes infectious disease", "infection by Listeria monocytogenes"], "xref": ["DOID:11573", "EFO:0007347", "GARD:0006915", "ICD10CM:A32", "ICD10WHO:A32", "ICD9:027.0", "MEDGEN:9788", "MESH:D008088", "MedDRA:10024641", "NCIT:C82994", "NORD:1375", "Orphanet:533", "UMLS:C0023860", "icd11.foundation:419706488"]}
{"category": ["biolink:Disease"], "description": "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.", "id": "MONDO:0005830", "name": "Lumpy skin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007349", "MEDGEN:9815", "MESH:D008166", "UMLS:C0024106"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis of the lymph node.", "id": "MONDO:0005831", "name": "Lymph node tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymph node tuberculosis", "tuberculous adenitis"], "xref": ["DOID:4889", "EFO:0007350", "GARD:0024238", "ICD10CM:A18.2", "MEDGEN:11946", "MESH:D014388", "NCIT:C26896", "SCTID:10893003", "UMLS:C0041316"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lymphatic vessels.", "id": "MONDO:0005832", "name": "Lymphangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of lymphatic vessel", "lymphatic vessel inflammation"], "xref": ["DOID:9317", "EFO:0007351", "GARD:0024239", "ICD10CM:I89.1", "ICD9:457.2", "MEDGEN:7412", "MESH:D008205", "NCIT:C34790", "SCTID:1415005", "UMLS:C0024225", "icd11.foundation:1548743622"]}
{"category": ["biolink:Disease"], "description": "A disease involving the lymphatic part of lymphoid system.", "id": "MONDO:0005833", "name": "Lymphatic system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lymphatic part of lymphoid system", "disease or disorder of lymphatic part of lymphoid system", "disorder of lymphatic part of lymphoid system", "glands, swollen", "lymphatic disease", "lymphatic part of lymphoid system disease", "lymphatic part of lymphoid system disease or disorder", "swollen gland", "swollen glands"], "xref": ["DOID:75", "EFO:0007352", "MEDGEN:892707", "MESH:D008206", "NCIT:C50764", "SCTID:362971004", "UMLS:C4021976"]}
{"category": ["biolink:Disease"], "description": "Infection with the organism Mycobacterium.", "id": "MONDO:0005834", "name": "Lymphogranuloma venereum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Durand-Nicolas-Favre disease", "climatic or tropical bubo", "lymph granuloma inguinale", "lymphogranuloma inguinale"], "xref": ["DOID:13819", "EFO:0007353", "ICD10CM:A55", "ICD9:099.1", "MEDGEN:44221", "MESH:D008219", "NCIT:C26822", "SCTID:186946009", "UMLS:C0024286"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.", "id": "MONDO:0005835", "name": "Lynch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Hereditary colorectal endometrial cancer syndrome", "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "Lynch syndrome", "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)", "hereditary defective mismatch repair syndrome"], "xref": ["DOID:3883", "MEDGEN:1633554", "MedDRA:10051981", "NCIT:C8494", "NORD:1386", "Orphanet:144", "SCTID:716318002", "UMLS:C4552100"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.", "id": "MONDO:0005836", "name": "Male reproductive organ cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of male reproductive organ", "male reproductive organ cancer", "malignant Male reproductive system neoplasm", "malignant Male reproductive system tumor", "malignant Male reproductive system tumour", "malignant male reproductive organ neoplasm", "malignant neoplasm of Male reproductive system", "malignant neoplasm of male genital organ, site unspecified", "malignant neoplasm of male reproductive organ", "malignant neoplasm of the Male reproductive system", "malignant tumor of Male reproductive system", "malignant tumor of male genital organ", "malignant tumor of male reproductive system", "malignant tumor of the Male reproductive system", "malignant tumour of Male reproductive system", "malignant tumour of male genital organ", "malignant tumour of male reproductive system", "malignant tumour of the Male reproductive system"], "xref": ["DOID:3856", "EFO:0007355", "ICD9:187.8", "ICD9:187.9", "MEDGEN:102279", "MESH:D005834", "NCIT:C8561", "SCTID:363515000", "UMLS:C0153606"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the mandible", "id": "MONDO:0005837", "name": "Mandibular cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancer of mandible", "malignant mandible neoplasm", "malignant neoplasm of inferior maxilla", "malignant neoplasm of lower jaw bone", "malignant neoplasm of mandible", "mandible cancer"], "xref": ["DOID:2338", "EFO:0007356", "GARD:0024240", "ICD10CM:C41.1", "ICD9:170.1", "MEDGEN:57788", "MESH:D008339", "NCIT:C35178", "SCTID:448668007", "UMLS:C0153511"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by the nematode Mansonella, including M. ozzardi, M. perstans (Dipetalonema perstans), and M. streptocerca (Dipetalonema streptocerca). Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.", "id": "MONDO:0005838", "name": "Mansonelliasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Acanthocheilonema perstans infection", "Acanthocheilonemiasis", "Dipetalonema infection", "Dipetalonema infections", "Mansonella perstans", "Mansonella perstans caused disease or disorder", "Mansonella perstans infections", "Mansonellosis", "dipetalonemiasis", "infection by Dipetalonema perstans (disorder) [ambiguous]"], "xref": ["DOID:1081", "DOID:14422", "EFO:0007357", "GARD:0008216", "ICD10CM:B74.4", "ICD9:125.4", "MEDGEN:6213", "MESH:D004154", "MESH:D008368", "NCIT:C34540", "NCIT:C84882", "Orphanet:2459", "SCTID:15629006", "SCTID:240849009", "UMLS:C0024759", "icd11.foundation:1504434405"]}
{"category": ["biolink:Disease"], "description": "Cancer or tumors of the maxilla or upper jaw.", "id": "MONDO:0005841", "name": "Maxillary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone of upper jaw neoplasm", "bone of upper jaw neoplasm (disease)", "bone of upper jaw tumor", "bone of upper jaw tumour", "maxillary neoplasm", "neoplasm of bone of upper jaw", "tumor of bone of upper jaw", "tumour of bone of upper jaw"], "xref": ["DOID:4618", "EFO:0007360", "GARD:0024241", "MEDGEN:44312", "MESH:D008441", "SCTID:126550004", "UMLS:C0024954"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.", "id": "MONDO:0005842", "name": "Maxillary sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2051", "EFO:0007361", "MEDGEN:44313", "MESH:D015523", "NCIT:C34809", "SCTID:88348008", "UMLS:C0024959"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the mediastinum", "id": "MONDO:0005843", "name": "Mediastinal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of mediastinum", "cancer of the mediastinum", "malignant mediastinal neoplasm", "malignant mediastinal tumor", "malignant mediastinal tumour", "malignant mediastinum neoplasm", "malignant neoplasm of mediastinum", "malignant neoplasm of the mediastinum", "malignant tumor of mediastinum", "malignant tumor of the mediastinum", "malignant tumour of mediastinum", "malignant tumour of the mediastinum", "mediastinal cancer", "mediastinum cancer"], "xref": ["DOID:5559", "EFO:0007362", "ICD9:164.9", "MEDGEN:56308", "MESH:D008479", "NCIT:C3549", "SCTID:363494000", "UMLS:C0153504"]}
{"category": ["biolink:Disease"], "description": "An eyelid cyst caused by the blockage of a meibomian gland.", "id": "MONDO:0005844", "name": "Chalazion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chalazion"], "xref": ["DOID:9903", "EFO:0007363", "ICD10CM:H00.1", "ICD9:373.2", "MEDGEN:869", "MESH:D017043", "NCIT:C26717", "SCTID:1482004", "UMLS:C0007933", "icd11.foundation:777918741"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.", "id": "MONDO:0005845", "name": "Meningoencephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:10554", "EFO:0007364", "GARD:0024242", "MEDGEN:6301", "MESH:D008590", "NCIT:C34813", "SCTID:7125002", "UMLS:C0025309"]}
{"category": ["biolink:Disease"], "description": "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.", "id": "MONDO:0005846", "name": "Microsporidiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Microsporidia caused disease or disorder", "Microsporidia disease or disorder", "Microsporidia infection", "Microsporidia infectious disease", "infection by Microspora"], "xref": ["DOID:4271", "EFO:0007366", "GARD:0003655", "ICD9:117.9", "MEDGEN:39278", "MESH:D016881", "MedDRA:10053982", "NCIT:C84891", "Orphanet:2552", "SCTID:699676006", "UMLS:C0085407", "icd11.foundation:1021483422"]}
{"category": ["biolink:Disease"], "description": "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)", "id": "MONDO:0005847", "name": "Middle lobe syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2810", "EFO:0007367", "MEDGEN:6393", "MESH:D008878", "SCTID:28295001", "UMLS:C0026069"]}
{"category": ["biolink:Disease"], "description": "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.", "id": "MONDO:0005848", "name": "Miliary tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acute miliary tuberculosis", "disseminated tuberculosis", "generalised tuberculosis", "generalized tuberculosis"], "xref": ["DOID:9861", "EFO:0007368", "GARD:0024243", "ICD10CM:A19", "ICD10WHO:A19", "ICD9:018", "ICD9:018.80", "ICD9:018.9", "ICD9:018.90", "MEDGEN:21726", "MESH:D014391", "NCIT:C35086", "SCTID:47604008", "UMLS:C0041321", "icd11.foundation:861638547"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the poxviridae.", "id": "MONDO:0005850", "name": "Milker's nodule", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8729", "ICD9:051.1", "ICD9:051.9", "MEDGEN:44449", "MESH:D011213", "SCTID:27240009", "UMLS:C0026143"]}
{"category": ["biolink:Disease"], "description": "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.", "id": "MONDO:0005851", "name": "Miller fisher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fisher syndrome", "Guillain Barre syndrome, Miller Fisher variant", "Guillain-Barre syndrome, Miller Fisher variant", "Miller Fisher variant of Guillain Barre syndrome", "Miller-Fisher syndrome", "cranial variant of GBS", "cranial variant of Guillain-Barre syndrome", "cranial variant of Guillain-Barré syndrome", "ophthalmoplegia, ataxia and areflexia syndrome", "syndrome, Fisher", "syndrome, Miller Fisher", "syndrome, Miller-Fisher"], "xref": ["DOID:12889", "EFO:0007371", "GARD:0003668", "MEDGEN:95994", "MESH:D019846", "MedDRA:10049567", "NCIT:C116958", "Orphanet:98919", "SCTID:1767005", "UMLS:C0393799", "icd11.foundation:134795253"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the left atrioventricular mitral orifice.", "id": "MONDO:0005852", "name": "Mitral valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mitral stenosis"], "xref": ["DOID:1754", "EFO:0007372", "MEDGEN:44466", "MESH:D008946", "NANDO:1200963", "NANDO:2200302", "NCIT:C50654", "SCTID:79619009", "UMLS:C0026269", "icd11.foundation:2115139779"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.", "id": "MONDO:0005853", "name": "Malignant mixed neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant mixed neoplasm", "malignant mixed tumor", "malignant mixed tumour", "mixed neoplasm, malignant", "mixed tumor, malignant (morphologic abnormality)", "mixed tumor, malignant, NOS (morphologic abnormality)", "tumor, mixed, malignant"], "xref": ["DOID:154", "EFO:1000356", "ICDO:8940/3", "MEDGEN:64618", "MESH:D018198", "NCIT:C3729", "UMLS:C0206625"]}
{"category": ["biolink:Disease"], "description": "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.", "id": "MONDO:0005854", "name": "Mixed connective tissue disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCTD", "sharp syndrome"], "xref": ["DOID:3492", "EFO:0007374", "GARD:0007051", "MEDGEN:10069", "MESH:D008947", "MedDRA:10027754", "NANDO:1200278", "NANDO:2200430", "NCIT:C84892", "NORD:1451", "Orphanet:809", "SCTID:398049005", "UMLS:C0026272", "icd11.foundation:891652224"]}
{"category": ["biolink:Disease"], "description": "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)", "id": "MONDO:0005855", "name": "Molluscum contagiosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8867", "EFO:0007375", "ICD10CM:B08.1", "ICD9:078.0", "MEDGEN:10081", "MESH:D008976", "SCTID:40070004", "UMLS:C0026393", "icd11.foundation:82201615"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.", "id": "MONDO:0005856", "name": "Mononegavirales infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mononegavirales caused disease or disorder", "Mononegavirales disease or disorder"], "xref": ["MEDGEN:67005", "MESH:D018701", "UMLS:C0242916"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.", "id": "MONDO:0005857", "name": "Morbillivirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Morbillivirus caused disease or disorder", "Morbillivirus disease or disorder", "Morbillivirus infectious disease"], "xref": ["EFO:0007377", "MEDGEN:61642", "MESH:D018185", "UMLS:C0206614"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.", "id": "MONDO:0005858", "name": "Mucinous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pseudomucinous adenocarcinoma", "Pseudomucinous cystadenocarcinoma", "mucinous cystadenocarcinoma", "mucinous cystadenocarcinoma (morphologic abnormality)", "mucinous cystadenocarcinoma NOS (morphologic abnormality)"], "xref": ["DOID:3603", "EFO:0007378", "ICDO:8470/3", "MEDGEN:60211", "MESH:D018282", "NCIT:C3776", "UMLS:C0206699"]}
{"category": ["biolink:Disease"], "description": "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.", "id": "MONDO:0005859", "name": "Mucocutaneous leishmaniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["American cutaneous leishmaniasis", "American mucocutaneous leishmaniasis", "cutaneous leishmaniasis, American", "mucocutaneous leishmaniasis, (American)"], "xref": ["DOID:9155", "EFO:0007379", "GARD:0024244", "ICD10CM:B55.2", "ICD9:085.5", "MEDGEN:233065", "MESH:D007897", "NCIT:C34769", "UMLS:C1328252", "icd11.foundation:1942095878"]}
{"category": ["biolink:Disease"], "description": "A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.", "id": "MONDO:0005861", "name": "Multidrug-resistant tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MDR-TB", "multidrug-resistant TB"], "xref": ["DOID:401", "EFO:0007381", "GARD:0024245", "MEDGEN:60163", "MESH:D018088", "NCIT:C128415", "SCTID:423092005", "UMLS:C0206526"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.", "id": "MONDO:0005864", "name": "Muscle cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of muscle structure", "malignant muscle neoplasm", "malignant muscle structure neoplasm", "malignant muscle tumor", "malignant muscle tumour", "malignant neoplasm of muscle", "malignant neoplasm of muscle structure", "malignant neoplasm of the muscle", "malignant tumor of muscle", "malignant tumor of the muscle", "malignant tumour of muscle", "malignant tumour of the muscle", "muscle structure cancer"], "xref": ["DOID:4045", "EFO:0007384", "ICD9:171.9", "ICDO:8895/3", "MEDGEN:151927", "NCIT:C4883", "SCTID:363495004", "UMLS:C0684743"]}
{"category": ["biolink:Disease"], "description": "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.", "id": "MONDO:0005865", "name": "Mushroom workers' lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mushroom workers lung"], "xref": ["DOID:2708", "GARD:0024246", "ICD9:495.5", "MEDGEN:102344", "SCTID:52333004", "UMLS:C0155889"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Mycobacterium avium.", "id": "MONDO:0005866", "name": "Mycobacterium avium complex disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Mycobacterium avium Complex", "Mycobacterium avium complex caused disease or disorder", "Mycobacterium avium complex disease or disorder", "Mycobacterium avium complex infectious disease", "Mycobacterium avium infection"], "xref": ["DOID:2755", "EFO:0007386", "ICD9:031.8", "MEDGEN:6478", "MESH:D015270", "NCIT:C36197", "SCTID:373436002", "UMLS:C0026916"]}
{"category": ["biolink:Disease"], "description": "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.", "id": "MONDO:0005867", "name": "Mycoplasma pneumoniae pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Mycoplasmal pneumonia", "pneumonia due to Mycoplasma pneumoniae"], "xref": ["DOID:13276", "EFO:0007387", "GARD:0007125", "ICD10CM:J15.7", "ICD9:483.0", "MEDGEN:19363", "MESH:D011019", "NCIT:C122526", "SCTID:46970008", "UMLS:C0032302"]}
{"category": ["biolink:Disease"], "description": "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.", "id": "MONDO:0005868", "name": "Myelophthisic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anaemia LEUKOERYTHROBLASTIC", "anemia LEUKOERYTHROBLASTIC", "leukoerythroblastic reaction"], "xref": ["DOID:2354", "EFO:0007388", "GARD:0024247", "ICD10CM:D61.82", "ICD9:285.8", "MEDGEN:1529", "MESH:D000750", "SCTID:2694001", "UMLS:C0002890"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.", "id": "MONDO:0005870", "name": "Necatoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2790", "EFO:0007390", "ICD10CM:B76.1", "ICD9:126.9", "MEDGEN:10277", "MESH:D009332", "NCIT:C34838", "SCTID:36667009", "UMLS:C0027528", "icd11.foundation:652000933"]}
{"category": ["biolink:Disease"], "description": "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.", "id": "MONDO:0005871", "name": "Nematoda infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Nematoda caused disease or disorder", "Nematoda disease or disorder", "disease due to nematoda"], "xref": ["EFO:0007391", "MEDGEN:45025", "MESH:D009349", "SCTID:84706005", "UMLS:C0027583"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the nervous system.", "id": "MONDO:0005872", "name": "Nervous system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of nervous system", "malignant neoplasm of nervous system", "malignant neoplasm of the nervous system", "malignant nervous system neoplasm", "malignant nervous system tumor", "malignant nervous system tumour", "malignant tumor of nervous system", "malignant tumor of the nervous system", "malignant tumour of nervous system", "malignant tumour of the nervous system", "nervous system cancer", "nervous system neoplasms, malignant"], "xref": ["DOID:3093", "EFO:0007392", "ICD9:192", "ICD9:192.8", "ICD9:192.9", "MEDGEN:99231", "MESH:D009423", "NCIT:C4788", "SCTID:372063002", "UMLS:C0497549"]}
{"category": ["biolink:Disease"], "description": "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)", "id": "MONDO:0005873", "name": "Neuroaspergillosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13565", "GARD:0024248", "MEDGEN:199873", "MESH:D020953", "UMLS:C0752342"]}
{"category": ["biolink:Disease"], "description": "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)", "id": "MONDO:0005874", "name": "Neuroschistosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:13722", "EFO:0007394", "GARD:0024249", "MEDGEN:155718", "MESH:D020818", "UMLS:C0752191", "icd11.foundation:446216876"]}
{"category": ["biolink:Disease"], "description": "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.", "id": "MONDO:0005875", "name": "Newcastle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2929", "EFO:0007395", "MEDGEN:10339", "MESH:D009521", "NCIT:C34849", "UMLS:C0027983"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.", "id": "MONDO:0005876", "name": "Nidovirales infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Nidovirales caused disease or disorder", "Nidovirales disease or disorder"], "xref": ["MEDGEN:197455", "MESH:D030341", "UMLS:C0969753"]}
{"category": ["biolink:Disease"], "description": "Onchocerciasis affecting the eye.", "id": "MONDO:0005878", "name": "Ocular onchocerciasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["eyeball of camera-type eye onchocerciasis", "onchocerciasis of eyeball of camera-type eye"], "xref": ["EFO:0007398", "GARD:0024250", "MEDGEN:45196", "MESH:D015827", "NCIT:C34862", "SCTID:240842000", "UMLS:C0029002"]}
{"category": ["biolink:Disease"], "description": "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.", "id": "MONDO:0005879", "name": "Ocular toxoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007399", "ICD9:130.7", "MEDGEN:21599", "MESH:D014126", "SCTID:416481006", "UMLS:C0040561"]}
{"category": ["biolink:Disease"], "description": "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.", "id": "MONDO:0005880", "name": "Oesophagostomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Oesophagostomum caused disease or disorder", "Oesophagostomum disease or disorder", "Oesophagostomum infectious disease"], "xref": ["DOID:3983", "GARD:0027730", "ICD9:127.7", "MEDGEN:18151", "MESH:D009814", "SCTID:22500005", "UMLS:C0028887", "icd11.foundation:1664841973"]}
{"category": ["biolink:Disease"], "description": "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.", "id": "MONDO:0005881", "name": "Oligohydramnios", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["oligohydramnios", "oligohydramnios (disease)"], "xref": ["DOID:12215", "EFO:0007401", "HP:0001562", "ICD10CM:O41.0", "ICD9:658.0", "ICD9:658.00", "MEDGEN:86974", "MESH:D016104", "SCTID:59566000", "UMLS:C0079924", "icd11.foundation:262953341"]}
{"category": ["biolink:Disease"], "description": "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.", "id": "MONDO:0005883", "name": "Ophthalmic herpes zoster", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["herpes zoster ophthalmicus"], "xref": ["EFO:0007403", "GARD:0009721", "ICD9:053.29", "MEDGEN:9236", "MESH:D006563", "SCTID:87513003", "UMLS:C0019364"]}
{"category": ["biolink:Disease"], "description": "Infection with flukes of the genus Opisthorchis.", "id": "MONDO:0005884", "name": "Opisthorchiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infection by Opisthorchis"], "xref": ["DOID:13768", "EFO:0007404", "ICD10CM:B66.0", "ICD9:121.0", "MEDGEN:10453", "MESH:D009889", "SCTID:1059007", "UMLS:C0029106", "icd11.foundation:1401769984"]}
{"category": ["biolink:Disease"], "description": "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.", "id": "MONDO:0005885", "name": "Optic neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:1210", "EFO:0007405", "GARD:0027731", "ICD10CM:H46", "ICD10WHO:H46", "ICD9:377.3", "ICD9:377.30", "ICD9:377.39", "MEDGEN:18181", "MESH:D009902", "NCIT:C84950", "SCTID:66760008", "UMLS:C0029134", "icd11.foundation:210935787"]}
{"category": ["biolink:Disease"], "description": "Infection of the mucosal lining of the mouth with the fungus Candida albicans.", "id": "MONDO:0005886", "name": "Oral candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["candidiasis of mouth", "mouth candidiasis"], "xref": ["DOID:14262", "EFO:0007406", "ICD9:112.0", "MEDGEN:14300", "MESH:D002180", "NCIT:C28137", "SCTID:79740000", "UMLS:C0006849"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis of the mouth, tongue, and salivary glands.", "id": "MONDO:0005887", "name": "Oral tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:402", "GARD:0024251", "ICD9:017.90", "ICD9:528.9", "MEDGEN:52888", "MESH:D014393", "SCTID:235067001", "UMLS:C0041323"]}
{"category": ["biolink:Disease"], "description": "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.", "id": "MONDO:0005888", "name": "Ornithosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["psittacosis"], "xref": ["DOID:11262", "EFO:0007410", "GARD:0007492", "ICD10CM:A70", "ICD9:073", "ICD9:073.9", "MEDGEN:18198", "MESH:D009956", "NCIT:C34873", "Orphanet:660053", "SCTID:75116005", "UMLS:C0029291"]}
{"category": ["biolink:Disease"], "description": "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.", "id": "MONDO:0005890", "name": "Osteitis fibrosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Von Recklinghausen disease of Bone", "Von Recklinghausen's disease of Bone", "osteitis fibrosa cystica"], "xref": ["DOID:3341", "EFO:0007413", "MEDGEN:14529", "MESH:D010002", "NCIT:C34875", "SCTID:84727000", "UMLS:C0029405"]}
{"category": ["biolink:Disease"], "description": "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.", "id": "MONDO:0005891", "name": "Ostertagiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3985", "EFO:0007414", "MEDGEN:18224", "MESH:D010029", "UMLS:C0029471"]}
{"category": ["biolink:Disease"], "description": "Otitis media associated with accumulation of fluid in the middle ear.", "id": "MONDO:0005892", "name": "Otitis media with effusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["OME"], "xref": ["EFO:0007415", "ICD9:381.20", "ICD9:381.29", "MEDGEN:629314", "MESH:D010034", "NCIT:C34886", "SCTID:78868004", "UMLS:C0456498"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.", "id": "MONDO:0005893", "name": "Pancreatic endocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pancreatic Neuroendocrine cancer", "carcinoma of endocrine pancreas", "carcinoma, islet cell, malignant", "endocrine pancreas carcinoma", "high grade pancreatic neuroendocrine carcinoma", "high-grade pancreatic neuroendocrine carcinoma", "islet cell cancer", "islet cell carcinoma", "islet cell carcinoma (morphologic abnormality)", "malignant islet cell tumor", "malignant islet cell tumour", "malignant neoplasm of islets of Langerhans", "malignant pancreatic endocrine tumor", "malignant pancreatic endocrine tumour", "pancreatic NEC", "pancreatic NEC G3", "pancreatic endocrine cancer", "pancreatic endocrine carcinoma", "pancreatic neuroendocrine carcinoma", "poorly differentiated pancreatic endocrine carcinoma", "poorly-differentiated NEN of pancreas", "poorly-differentiated neuroendocrine neoplasm of pancreas", "poorly-differentiated pancreatic NEN", "poorly-differentiated pancreatic neuroendocrine neoplasm"], "xref": ["DOID:1798", "EFO:0007416", "GARD:0022056", "ICD10CM:C25.4", "ICD9:157.4", "ICDO:8150/3", "MEDGEN:233070", "MESH:D018273", "NCIT:C3770", "Orphanet:506098", "SCTID:254612002", "UMLS:C1328479"]}
{"category": ["biolink:Disease"], "description": "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.", "id": "MONDO:0005894", "name": "Paracoccidioidomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:12662", "EFO:0007417", "GARD:0007323", "ICD10CM:B41", "ICD10WHO:B41", "ICD9:116.1", "MEDGEN:14601", "MESH:D010229", "MedDRA:10061906", "NCIT:C34891", "NORD:1553", "Orphanet:73260", "SCTID:36866003", "UMLS:C0030409", "icd11.foundation:268777657"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.", "id": "MONDO:0005895", "name": "Paragonimiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Paragonimus westermani caused disease or disorder", "Paragonimus westermani disease or disorder", "Paragonimus westermani infectious disease", "infection by Paragonimus", "lung fluke disease", "lung fluke infection", "pulmonary paragonimiasis"], "xref": ["DOID:10699", "EFO:0007418", "GARD:0009815", "ICD10CM:B66.4", "ICD9:121.2", "MEDGEN:14603", "MESH:D010237", "NCIT:C84995", "Orphanet:658913", "SCTID:30369007", "UMLS:C0030424", "icd11.foundation:1422824299"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.", "id": "MONDO:0005896", "name": "Paramyxoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Paramyxoviridae caused disease or disorder", "Paramyxoviridae disease or disorder"], "xref": ["EFO:0007419", "MESH:D018184"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.", "id": "MONDO:0005898", "name": "Paronychia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["paronychia", "paronychia (disease)"], "xref": ["DOID:13117", "EFO:0007421", "HP:0001818", "ICD9:681.9", "MEDGEN:45334", "MESH:D010304", "NCIT:C79702", "SCTID:71906005", "UMLS:C0030578"]}
{"category": ["biolink:Disease"], "description": "A disease involving the parotid gland.", "id": "MONDO:0005899", "name": "Parotid disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of parotid gland", "disease or disorder of parotid gland", "disorder of parotid gland", "parotid gland disease", "parotid gland disease or disorder"], "xref": ["DOID:10302", "EFO:0007422", "MEDGEN:10593", "MESH:D010305", "UMLS:C0030579"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the parotid glands.", "id": "MONDO:0005900", "name": "Parotitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of parotid gland", "parotid gland inflammation"], "xref": ["DOID:10301", "EFO:0007423", "MEDGEN:45335", "MESH:D010309", "NCIT:C114281", "SCTID:14756005", "UMLS:C0030583"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus pasteurella.", "id": "MONDO:0005901", "name": "Pasteurellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pasteurella caused disease or disorder", "Pasteurella disease or disorder", "Pasteurella infection"], "xref": ["DOID:11055", "EFO:0007424", "ICD10CM:A28.0", "ICD9:027.2", "MEDGEN:10598", "MESH:D010326", "SCTID:83172007", "UMLS:C0030636", "icd11.foundation:304649065"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.", "id": "MONDO:0005903", "name": "Pericardial tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculous pericarditis"], "xref": ["DOID:4962", "EFO:0007426", "GARD:0024252", "ICD9:017.90", "MEDGEN:18379", "MESH:D010495", "SCTID:67256000", "UMLS:C0031049", "icd11.foundation:2135325100"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the pericardium.", "id": "MONDO:0005904", "name": "Pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of pericardium", "pericarditis", "pericarditis (disease)", "pericardium inflammation"], "xref": ["DOID:1787", "EFO:0007427", "HP:0001701", "MEDGEN:18377", "MESH:D010493", "NCIT:C34915", "Orphanet:58208", "SCTID:3238004", "UMLS:C0031046", "icd11.foundation:1296696944"]}
{"category": ["biolink:Disease"], "description": "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)", "id": "MONDO:0005905", "name": "Periodic limb movement disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9207", "EFO:0007428", "ICD10CM:G47.61", "ICD9:327.51", "MEDGEN:199731", "SCTID:418763003", "UMLS:C0751774", "icd11.foundation:1846518306"]}
{"category": ["biolink:Disease"], "description": "An abscess that develops in the space surrounding one or both palatine tonsils.", "id": "MONDO:0005906", "name": "Peritonsillar abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["quinsy"], "xref": ["EFO:0007429", "ICD10CM:J36", "ICD10WHO:J36", "ICD9:475", "MEDGEN:45819", "MESH:D000039", "NCIT:C128322", "SCTID:15033003", "UMLS:C0031157", "icd11.foundation:1782446047"]}
{"category": ["biolink:Disease"], "description": "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)", "id": "MONDO:0005907", "name": "Persian gulf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4491", "EFO:0007430", "ICD9:300.89", "MEDGEN:84396", "MESH:D018923", "SCTID:95877004", "UMLS:C0282550"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus pestivirus, family flaviviridae.", "id": "MONDO:0005909", "name": "Pestivirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pestivirus caused disease or disorder", "Pestivirus disease or disorder", "Pestivirus infectious disease"], "xref": ["EFO:0007432", "MEDGEN:60191", "MESH:D018182", "UMLS:C0206611"]}
{"category": ["biolink:Disease"], "description": "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.", "id": "MONDO:0005910", "name": "Phagocyte bactericidal dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:3262", "EFO:0007433", "GARD:0024253", "MEDGEN:14713", "MESH:D010585", "UMLS:C0031306"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.", "id": "MONDO:0005911", "name": "Pharyngoconjunctival fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pharyngoconjunctival fever"], "xref": ["DOID:13801", "ICD9:077.2", "MEDGEN:14722", "MESH:D000258", "NCIT:C34924", "SCTID:70385007", "UMLS:C0031351"]}
{"category": ["biolink:Disease"], "description": "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.", "id": "MONDO:0005912", "name": "Phencyclidine abuse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5062", "ICD9:305.90", "MEDGEN:19234", "MESH:D010623", "SCTID:7071007", "UMLS:C0031391"]}
{"category": ["biolink:Disease"], "description": "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.", "id": "MONDO:0005913", "name": "Phlebotomus fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sandfly fever", "pappataci fever"], "xref": ["DOID:11360", "EFO:0007437", "ICD10CM:A93.1", "ICD9:066.0", "MEDGEN:14597", "MESH:D010217", "SCTID:407476002", "UMLS:C0030372"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the picornaviridae.", "id": "MONDO:0005914", "name": "Picornaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Picornaviridae infection"], "xref": ["EFO:0007438", "MEDGEN:19308", "MESH:D010850", "UMLS:C0031887"]}
{"category": ["biolink:Disease"], "description": "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.", "id": "MONDO:0005915", "name": "Pityriasis versicolor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Malassezia furfur infection"], "xref": ["DOID:9060", "EFO:0007439", "ICD10CM:B36.0", "ICD9:111.0", "MEDGEN:11826", "MESH:D014010", "NCIT:C82981", "SCTID:56454009", "UMLS:C0040262", "icd11.foundation:67108853"]}
{"category": ["biolink:Disease"], "description": "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)", "id": "MONDO:0005916", "name": "Placenta accreta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4744", "EFO:0007440", "GARD:0027124", "ICD10CM:O43.21", "MEDGEN:10780", "MESH:D010921", "NCIT:C26856", "Orphanet:662721", "SCTID:70129008", "UMLS:C0032044", "icd11.foundation:298160226"]}
{"category": ["biolink:Disease"], "description": "A disease involving the placenta.", "id": "MONDO:0005917", "name": "Placenta disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of placenta", "disease or disorder of placenta", "disorder of placenta", "placenta disease", "placenta disease or disorder", "placenta diseases", "placenta disorder", "placenta disorders", "placental disorder"], "xref": ["DOID:780", "EFO:0007441", "ICD9:646.9", "ICD9:656.70", "MEDGEN:10781", "MESH:D010922", "NCIT:C26857", "SCTID:125586008", "UMLS:C0032045"]}
{"category": ["biolink:Disease"], "description": "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.", "id": "MONDO:0005918", "name": "Placenta praevia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["placenta praevia", "placenta previa"], "xref": ["DOID:11060", "EFO:0007442", "ICD10CM:O44", "ICD10WHO:O44", "MEDGEN:10782", "MESH:D010923", "NCIT:C26858", "SCTID:36813001", "UMLS:C0032046"]}
{"category": ["biolink:Disease"], "description": "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.", "id": "MONDO:0005919", "name": "Placental insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["uteroplacental vascular insufficiency"], "xref": ["DOID:3891", "EFO:0007443", "GARD:0021823", "ICD9:762.2", "MEDGEN:45942", "MESH:D010927", "Orphanet:439167", "SCTID:237292005", "UMLS:C0032051"]}
{"category": ["biolink:Disease"], "description": "Malaria resulting from infection by Plasmodium falciparum.", "id": "MONDO:0005920", "name": "Plasmodium falciparum malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Plasmodium falciparum malaria, unspecified", "falciparum malaria", "falciparum malaria [malignant tertian]", "malignant tertian fever (finding)"], "xref": ["DOID:14067", "EFO:0007444", "GARD:0024254", "ICD10CM:B50", "ICD10WHO:B50", "ICD9:084.0", "ICD9:084.9", "MEDGEN:6185", "MESH:D016778", "NCIT:C34798", "SCTID:62676009", "UMLS:C0024535"]}
{"category": ["biolink:Disease"], "description": "Malaria resulting from infection by Plasmodium vivax.", "id": "MONDO:0005921", "name": "Plasmodium vivax malaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["vivax malaria"], "xref": ["DOID:12978", "EFO:0007445", "GARD:0024255", "ICD10CM:B51", "ICD10WHO:B51", "ICD9:084.1", "MEDGEN:6186", "MESH:D016780", "NCIT:C34800", "SCTID:27052006", "UMLS:C0024537"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.", "id": "MONDO:0005922", "name": "Pleural tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pleura tuberculosis", "tuberculosis of pleura", "tuberculous pleurisy", "tuberculous pleuritis"], "xref": ["DOID:106", "EFO:0007446", "GARD:0024256", "ICD10CM:A15.6", "ICD9:010.1", "ICD9:010.10", "ICD9:010.12", "ICD9:010.16", "ICD9:012.0", "ICD9:012.00", "MEDGEN:22517", "MESH:D014396", "NCIT:C26898", "SCTID:186172004", "UMLS:C0041326"]}
{"category": ["biolink:Disease"], "description": "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.", "id": "MONDO:0005923", "name": "Pneumocystis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pneumocystis infection"], "xref": ["EFO:0007447", "MEDGEN:163415", "MESH:D016720", "UMLS:C0851886"]}
{"category": ["biolink:Disease"], "description": "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.", "id": "MONDO:0005925", "name": "Pneumonic pasteurellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007449", "MEDGEN:11408", "MESH:D012766", "UMLS:C0036969"]}
{"category": ["biolink:Disease"], "description": "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).", "id": "MONDO:0005927", "name": "Polyomavirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007451", "MEDGEN:215447", "MESH:D027601", "UMLS:C0949804"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.", "id": "MONDO:0005928", "name": "Post-thrombotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["postphlebitic syndrome"], "xref": ["DOID:2364", "EFO:0007452", "ICD10CM:I87.0", "ICD9:459.1", "ICD9:459.10", "ICD9:459.11", "ICD9:459.12", "ICD9:459.13", "MEDGEN:46043", "MESH:D011186", "SCTID:20427003", "UMLS:C0032807"]}
{"category": ["biolink:Disease"], "description": "A type of clinical depression that occurs after childbirth.", "id": "MONDO:0005929", "name": "Postpartum depression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["depressive episode with postpartum onset", "major depressive episode with peripartum onset", "postnatal depression", "postpartum depression"], "xref": ["DOID:9478", "EFO:0007453", "ICD10CM:F53.0", "MEDGEN:66359", "MESH:D019052", "NCIT:C92852", "SCTID:279225001", "UMLS:C0221074"]}
{"category": ["biolink:Disease"], "description": "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.", "id": "MONDO:0005932", "name": "Pseudorabies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007457", "MEDGEN:18730", "MESH:D011557", "UMLS:C0033839"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.", "id": "MONDO:0005933", "name": "Pulmonary blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pneumoblastoma", "blastoma of lung", "blastoma of the lung", "lung blastoma", "pulmonary blastoma"], "xref": ["DOID:4765", "EFO:0007458", "GARD:0018864", "ICD9:162.9", "ICDO:8972/3", "MEDGEN:61645", "MESH:D018202", "NCIT:C3732", "Orphanet:64741", "SCTID:189815007", "UMLS:C0206629"]}
{"category": ["biolink:Disease"], "description": "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.", "id": "MONDO:0005936", "name": "Recurrent pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["recurrent pneumonia", "recurrent pneumonia (disease)"], "xref": ["EFO:0007461", "HP:0006532", "MEDGEN:195802", "SCTID:699014000", "UMLS:C0694550"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)", "id": "MONDO:0005937", "name": "Rem sleep behavior disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9091", "EFO:0007462", "ICD10CM:G47.52", "ICD9:327.42", "ICD9:780.59", "MEDGEN:199730", "MESH:D020187", "SCTID:415238003", "UMLS:C0751772"]}
{"category": ["biolink:Disease"], "description": "Infection of the kidney due to mycobacteria.", "id": "MONDO:0005938", "name": "Renal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["kidney tuberculosis", "tuberculosis of kidney"], "xref": ["DOID:9733", "EFO:0007463", "GARD:0024257", "ICD9:016.0", "ICD9:016.00", "MEDGEN:21728", "MESH:D014398", "NCIT:C123020", "SCTID:44323002", "UMLS:C0041328"]}
{"category": ["biolink:Disease"], "description": "Infections produced by reoviruses, general or unspecified.", "id": "MONDO:0005939", "name": "Reoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007464", "MEDGEN:48410", "MESH:D012088", "UMLS:C0035112"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.", "id": "MONDO:0005940", "name": "Respirovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007465", "MEDGEN:811417", "MESH:D010253", "UMLS:C3714630"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.", "id": "MONDO:0005941", "name": "Retroperitoneal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of retroperitoneal space", "malignant neoplasm of retroperitoneal space", "malignant neoplasm of retroperitoneum and peritoneum", "malignant retroperitoneal neoplasm", "malignant retroperitoneal space neoplasm", "malignant tumour of peritoneum and retroperitoneum", "retroperitoneal space cancer"], "xref": ["DOID:5875", "EFO:0007466", "ICD9:158", "ICD9:158.0", "MEDGEN:57559", "MESH:D012186", "NCIT:C3537", "SCTID:126872008", "UMLS:C0153465", "icd11.foundation:1731312506"]}
{"category": ["biolink:Disease"], "description": "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.", "id": "MONDO:0005942", "name": "Reye syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reye's syndrome"], "xref": ["DOID:14525", "EFO:0007467", "GARD:0007570", "ICD10CM:G93.7", "ICD9:331.81", "MEDGEN:19772", "MESH:D012202", "MedDRA:10039012", "NCIT:C34983", "Orphanet:3096", "SCTID:74351001", "UMLS:C0035400", "icd11.foundation:649014905"]}
{"category": ["biolink:Disease"], "description": "Infections with nematodes of the order rhabditida.", "id": "MONDO:0005943", "name": "Rhabditida infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008203", "MEDGEN:57950", "MESH:D017196", "UMLS:C0162631"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.", "id": "MONDO:0005944", "name": "Rhabdoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0007469", "MEDGEN:60221", "MESH:D018353", "UMLS:C0206751"]}
{"category": ["biolink:Disease"], "description": "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.", "id": "MONDO:0005945", "name": "Rhinoscleroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11336", "EFO:0007470", "ICD9:040.1", "MEDGEN:20569", "MESH:D012226", "SCTID:72409005", "UMLS:C0035468", "icd11.foundation:1053615368"]}
{"category": ["biolink:Disease"], "description": "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.", "id": "MONDO:0005946", "name": "Rhinosporidiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Rhinosporidium seeberi caused disease or disorder", "Rhinosporidium seeberi disease or disorder", "Rhinosporidium seeberi infectious disease"], "xref": ["DOID:2409", "EFO:0007471", "ICD10CM:B48.1", "ICD9:117.0", "MEDGEN:48452", "MESH:D012227", "SCTID:18140003", "UMLS:C0035469", "icd11.foundation:1150206155"]}
{"category": ["biolink:Disease"], "description": "Pneumonia caused by infection with bacteria of the family rickettsiaceae.", "id": "MONDO:0005947", "name": "Rickettsial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Rickettsiaceae caused pneumonia", "Rickettsiaceae pneumonia"], "xref": ["GARD:0024258", "ICD9:484.8", "MEDGEN:45973", "MESH:D011022", "SCTID:233621003", "UMLS:C0032307"]}
{"category": ["biolink:Disease"], "description": "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.", "id": "MONDO:0005949", "name": "Roseolovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Roseolovirus caused disease or disorder", "Roseolovirus disease or disorder", "Roseolovirus infectious disease"], "xref": ["EFO:0007474", "MEDGEN:83999", "MESH:D019349", "UMLS:C0376549"]}
{"category": ["biolink:Disease"], "description": "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.", "id": "MONDO:0005950", "name": "Salmonella gastroenteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Salmonella caused gastroenteritis"], "xref": ["EFO:0007475", "GARD:0024259", "ICD9:003.0", "MEDGEN:48541", "MESH:D012478", "SCTID:42338000", "UMLS:C0036114"]}
{"category": ["biolink:Disease"], "description": "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.", "id": "MONDO:0005952", "name": "Scarlet fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["scarlatina"], "xref": ["DOID:8596", "EFO:0007477", "GARD:0027349", "ICD10CM:A38", "ICD10WHO:A38", "ICD9:034", "ICD9:034.1", "MEDGEN:11327", "MESH:D012541", "NCIT:C94575", "Orphanet:688995", "SCTID:30242009", "UMLS:C0036285", "icd11.foundation:107294155"]}
{"category": ["biolink:Disease"], "description": "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.", "id": "MONDO:0005953", "name": "Scirrhous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["FIBROADENOCARCINOMA, malignant", "adenocarcinoma with productive fibrosis", "fibrocarcinoma", "scirrhous adenocarcinoma", "scirrhous adenocarcinoma (morphologic abnormality)", "scirrhous carcinoma"], "xref": ["DOID:4024", "EFO:0007478", "ICDO:8141/3", "MEDGEN:2873", "MESH:D002293", "NCIT:C2928", "UMLS:C0007135"]}
{"category": ["biolink:Disease"], "description": "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.", "id": "MONDO:0005954", "name": "Screw worm infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cochliomyia hominivorax caused disease or disorder", "Cochliomyia hominivorax disease or disorder", "Cochliomyia hominivorax infectious disease"], "xref": ["DOID:12927", "GARD:0024260", "MESH:D012610"]}
{"category": ["biolink:Disease"], "description": "A plague in which the bacteria have entered the bloodstream.", "id": "MONDO:0005956", "name": "Septicemic plague", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3481", "GARD:0024261", "ICD10CM:A20.7", "ICD9:020.2", "MEDGEN:56296", "SCTID:9012003", "UMLS:C0152936"]}
{"category": ["biolink:Disease"], "description": "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.", "id": "MONDO:0005957", "name": "Setariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Setaria nematode caused disease or disorder", "Setaria nematode disease or disorder", "Setaria nematode infectious disease"], "xref": ["DOID:1079", "GARD:0024262", "MEDGEN:11393", "MESH:D012719", "SCTID:4414005", "UMLS:C0036850"]}
{"category": ["biolink:Disease"], "description": "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)", "id": "MONDO:0005959", "name": "Sick building syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:2710", "EFO:0007484", "GARD:0024263", "MEDGEN:48661", "MESH:D018877", "SCTID:19076009", "UMLS:C0037050"]}
{"category": ["biolink:Disease"], "description": "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.", "id": "MONDO:0005960", "name": "Silicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["pneumoconiosis due to silica", "silicosis"], "xref": ["DOID:10325", "EFO:0007485", "GARD:0007647", "ICD9:502", "MEDGEN:20758", "MESH:D012829", "NCIT:C3369", "SCTID:805002", "UMLS:C0037116"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.", "id": "MONDO:0005961", "name": "Sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050127", "EFO:0007486", "ICD9:461", "ICD9:461.9", "MEDGEN:20772", "MESH:D012852", "NCIT:C35024", "SCTID:36971009", "UMLS:C0037199"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis of the bones or joints.", "id": "MONDO:0005962", "name": "Skeletal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:1639", "EFO:0007487", "GARD:0024264", "ICD9:015", "ICD9:015.9", "MEDGEN:21727", "MESH:D014394", "SCTID:17653001", "UMLS:C0041324"]}
{"category": ["biolink:Disease"], "description": "A condition resulting from infection with the second stage larvae of the parasite Spirometra.", "id": "MONDO:0005963", "name": "Sparganosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Spirometra caused disease or disorder", "Spirometra disease or disorder", "Spirometra infectious disease", "infection by sparganum", "sparganosis [larval diphyllobothriasis]"], "xref": ["DOID:10080", "EFO:0007488", "ICD10CM:B70.1", "ICD9:123.5", "MEDGEN:52426", "MESH:D013031", "NCIT:C35030", "SCTID:31659000", "UMLS:C0037753", "icd11.foundation:22873958"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.", "id": "MONDO:0005964", "name": "Sphenoid sinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["sinusitis of sphenoid bone", "sphenoid bone sinusitis", "sphenoidal sinusitis"], "xref": ["DOID:10794", "EFO:0007489", "MEDGEN:11543", "MESH:D015524", "NCIT:C35031", "SCTID:13266007", "UMLS:C0037886"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the spinal canal.", "id": "MONDO:0005965", "name": "Spinal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:6725", "EFO:0007490", "HP:0003416", "ICD10CM:M48.0", "ICD9:723.0", "ICD9:724.00", "ICD9:724.09", "MEDGEN:396107", "MESH:D013130", "NANDO:1200372", "NCIT:C177444", "SCTID:76107001", "UMLS:C1861329", "icd11.foundation:1847895828"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the spleen", "id": "MONDO:0005966", "name": "Spleen cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of spleen", "cancer of the spleen", "malignant neoplasm of spleen", "malignant neoplasm of the spleen", "malignant spleen neoplasm", "malignant splenic neoplasm", "malignant splenic tumor", "malignant splenic tumour", "malignant tumor of spleen", "malignant tumor of the spleen", "malignant tumour of the spleen", "spleen cancer", "splenic cancer"], "xref": ["DOID:672", "EFO:0007491", "GARD:0024265", "ICD10CM:C26.1", "MEDGEN:102271", "MESH:D013160", "NCIT:C3539", "SCTID:127230005", "UMLS:C0153470", "icd11.foundation:347078862"]}
{"category": ["biolink:Disease"], "description": "Infection of the spleen with species of mycobacterium.", "id": "MONDO:0005967", "name": "Splenic tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:9305", "GARD:0024266", "ICD9:017.7", "MEDGEN:11949", "MESH:D014400", "SCTID:28399005", "UMLS:C0041331"]}
{"category": ["biolink:Disease"], "description": "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.", "id": "MONDO:0005968", "name": "Sporotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:14484", "EFO:0007494", "GARD:0007692", "ICD10CM:B42", "ICD10WHO:B42", "ICD9:117.1", "MEDGEN:21298", "MESH:D013174", "MedDRA:10041736", "Orphanet:826", "SCTID:42094007", "UMLS:C0038034", "icd11.foundation:579570784"]}
{"category": ["biolink:Disease"], "description": "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)", "id": "MONDO:0005969", "name": "St. louis encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Neuroinvasive St. Louis encephalitis virus infection", "Saint Louis encephalitis", "St. Louis encephalitis virus caused infectious encephalitis", "St. Louis encephalitis virus infectious encephalitis"], "xref": ["DOID:10845", "EFO:0007495", "GARD:0019041", "ICD10CM:A83.3", "ICD9:062.3", "MEDGEN:41773", "MESH:D004674", "MedDRA:10041896", "Orphanet:83484", "SCTID:417607009", "UMLS:C0014060", "icd11.foundation:1306878274"]}
{"category": ["biolink:Disease"], "description": "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.", "id": "MONDO:0005970", "name": "Staphylococcal pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Staphylococcus caused pneumonia", "Staphylococcus pneumonia"], "xref": ["EFO:0007496", "ICD9:482.4", "ICD9:482.40", "ICD9:482.49", "MEDGEN:18532", "MESH:D011023", "SCTID:22754005", "UMLS:C0032308"]}
{"category": ["biolink:Disease"], "description": "Food poisoning that is caused by Staphylococcal infection.", "id": "MONDO:0005971", "name": "Staphyloenterotoxemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["staphylococcal food poisoning", "staphylococcal toxemia due to food"], "xref": ["DOID:96", "EFO:0007497", "ICD9:005.0", "MEDGEN:52482", "MESH:D013202", "NCIT:C35037", "SCTID:84622004", "UMLS:C0038159"]}
{"category": ["biolink:Disease"], "description": "A febrile disease caused by streptococcus pneumoniae.", "id": "MONDO:0005972", "name": "Streptococcal pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Streptococcus pneumoniae caused pneumonia", "Streptococcus pneumoniae pneumonia", "pneumococcal pneumonia", "pneumonia due to streptococcus", "streptococcal pneumonia"], "xref": ["DOID:0040084", "EFO:0007499", "ICD10CM:J13", "ICD9:481", "ICD9:482.30", "ICD9:482.39", "MEDGEN:57615", "MESH:D011018", "SCTID:233607000", "UMLS:C0155862"]}
{"category": ["biolink:Disease"], "description": "Infections with nematodes of the order strongylida.", "id": "MONDO:0005973", "name": "Strongylida infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MESH:D017206"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.", "id": "MONDO:0005974", "name": "Strongyloidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Anguilluliasis", "Anguillulosis"], "xref": ["DOID:10955", "EFO:0007501", "GARD:0008195", "ICD10CM:B78", "ICD10WHO:B78", "ICD9:127.2", "MEDGEN:20976", "MESH:D013322", "MedDRA:10042254", "NCIT:C128398", "Orphanet:76", "SCTID:187176005", "UMLS:C0038463", "icd11.foundation:2088326190"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the middle ear with purulent discharge.", "id": "MONDO:0005975", "name": "Suppurative otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11506", "EFO:0007503", "ICD9:382", "ICD9:382.4", "MEDGEN:10506", "MESH:D010035", "SCTID:39288006", "UMLS:C0029888", "icd11.foundation:1528565412"]}
{"category": ["biolink:Disease"], "description": "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.", "id": "MONDO:0005976", "name": "Syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Treponema pallidum caused disease or disorder", "Treponema pallidum disease or disorder", "Treponema pallidum infectious disease"], "xref": ["DOID:4166", "EFO:0007504", "GARD:0027732", "ICD9:097.9", "MEDGEN:21447", "MESH:D013587", "MedDRA:10062120", "NCIT:C35055", "SCTID:76272004", "UMLS:C0039128", "icd11.foundation:455894495"]}
{"category": ["biolink:Disease"], "description": "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.", "id": "MONDO:0005977", "name": "Tabes dorsalis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:10027", "GARD:0008730", "ICD10CM:A52.11", "ICD9:094.0", "MEDGEN:21065", "MESH:D013606", "NCIT:C35057", "SCTID:316841006", "UMLS:C0039223", "icd11.foundation:1131342025"]}
{"category": ["biolink:Disease"], "description": "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.", "id": "MONDO:0005978", "name": "Theileriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3733", "EFO:0007506", "ICD9:136.8", "MEDGEN:11763", "MESH:D013801", "SCTID:68771000", "UMLS:C0039753"]}
{"category": ["biolink:Disease"], "description": "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.", "id": "MONDO:0005979", "name": "Thoracic outlet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TOS", "thoracic outlet compression syndrome"], "xref": ["DOID:3103", "EFO:0007507", "MEDGEN:21158", "MESH:D013901", "MedDRA:10048627", "NCIT:C85188", "NORD:1766", "Orphanet:97330", "SCTID:128210009", "UMLS:C0039984", "icd11.foundation:909280105"]}
{"category": ["biolink:Disease"], "description": "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.", "id": "MONDO:0005980", "name": "Tick infestation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ixodoidea caused disease or disorder", "Ixodoidea disease or disorder", "Ixodoidea infectious disease"], "xref": ["DOID:4109", "EFO:0007508", "MEDGEN:21178", "MESH:D013984", "UMLS:C0040196"]}
{"category": ["biolink:Disease"], "description": "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.", "id": "MONDO:0005981", "name": "Tick paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:11285", "EFO:0007509", "GARD:0007771", "MEDGEN:52752", "MESH:D013985", "SCTID:74225001", "UMLS:C0040197"]}
{"category": ["biolink:Disease"], "description": "A skin infection caused by a fungus.", "id": "MONDO:0005982", "name": "Tinea infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Tinea", "Tinea caused disease or disorder", "Tinea disease or disorder", "Tinea infection", "Tinea infectious disease"], "xref": ["DOID:12404", "EFO:0007510", "MEDGEN:52757", "NCIT:C112181", "UMLS:C0040247"]}
{"category": ["biolink:Disease"], "description": "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.", "id": "MONDO:0005983", "name": "Tinea favosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["favus"], "xref": ["DOID:4336", "MEDGEN:52758", "MESH:D014007", "NCIT:C35072", "SCTID:85375000", "UMLS:C0040254"]}
{"category": ["biolink:Disease"], "description": "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.", "id": "MONDO:0005984", "name": "Tinea pedis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["athlete's foot", "dermatophytosis of foot", "dermatophytosis of pes", "pes dermatophytosis"], "xref": ["DOID:12403", "EFO:0007512", "ICD10CM:B35.3", "ICD9:110.4", "MEDGEN:52759", "MESH:D014008", "SCTID:6020002", "UMLS:C0040259"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the togaviridae.", "id": "MONDO:0005985", "name": "Togaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Togaviridae caused disease or disorder", "Togaviridae disease or disorder"], "xref": ["GARD:0007776", "MEDGEN:21575", "MESH:D014036", "UMLS:C0040361"]}
{"category": ["biolink:Disease"], "description": "Infections with viruses of the genus torovirus, family coronaviridae.", "id": "MONDO:0005986", "name": "Torovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Torovirus caused disease or disorder", "Torovirus disease or disorder", "Torovirus infectious disease"], "xref": ["MEDGEN:104897", "MESH:D018176", "UMLS:C0206607"]}
{"category": ["biolink:Disease"], "description": "Infections with nematodes of the genus toxascaris.", "id": "MONDO:0005987", "name": "Toxascariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Toxascaris caused disease or disorder", "Toxascaris disease or disorder", "Toxascaris infectious disease"], "xref": ["DOID:3107", "GARD:0027733", "MEDGEN:21221", "MESH:D017227", "UMLS:C0040522"]}
{"category": ["biolink:Disease"], "description": "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.", "id": "MONDO:0005988", "name": "Toxocariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Toxocara caused disease or disorder", "Toxocara disease or disorder", "Toxocara infection", "Toxocara infectious disease", "visceral larva migrans"], "xref": ["DOID:9790", "EFO:0007516", "GARD:0018793", "ICD9:128.0", "MEDGEN:21596", "MESH:D014120", "MedDRA:10044269", "NCIT:C34758", "NCIT:C85194", "Orphanet:3343", "SCTID:406619001", "UMLS:C0040553", "icd11.foundation:1794729263"]}
{"category": ["biolink:Disease"], "description": "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.", "id": "MONDO:0005989", "name": "Toxoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Toxoplasma gondii caused disease or disorder", "Toxoplasma gondii disease or disorder", "Toxoplasma gondii infectious disease"], "xref": ["DOID:9965", "EFO:0007517", "ICD10CM:B58", "ICD10WHO:B58", "ICD9:130", "ICD9:130.7", "ICD9:130.9", "MEDGEN:21597", "MESH:D014123", "NCIT:C3418", "SCTID:187192000", "UMLS:C0040558", "icd11.foundation:738999268"]}
{"category": ["biolink:Disease"], "description": "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.", "id": "MONDO:0005990", "name": "Tracheitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute tracheitis", "inflammation of tracheal mucosa", "tracheal Inflammation", "tracheal mucosa inflammation"], "xref": ["DOID:9392", "EFO:0007518", "ICD10CM:J04.1", "ICD9:464.1", "MEDGEN:11870", "MESH:D014136", "NCIT:C78643", "SCTID:62994001", "UMLS:C0040584"]}
{"category": ["biolink:Disease"], "description": "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.", "id": "MONDO:0005991", "name": "Trench fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bartonella quintana caused disease or disorder", "Bartonella quintana disease or disorder", "Bartonella quintana infectious disease", "His-Werner disease", "Wolhynian fever", "bartonellosis due to Bartonella quintana infection", "quintan fever", "shin bone fever", "trench fever"], "xref": ["DOID:11101", "EFO:0007519", "GARD:0018862", "ICD10CM:A79.0", "ICD9:083.1", "MEDGEN:21637", "MESH:D014205", "MedDRA:10044582", "Orphanet:64694", "SCTID:82214002", "UMLS:C0040830", "icd11.foundation:1587737629"]}
{"category": ["biolink:Disease"], "description": "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.", "id": "MONDO:0005993", "name": "Trichomonas vaginitis urogenital infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas vaginalis caused disease of genitourinary system", "Trichomonas vaginalis disease of genitourinary system", "Trichomonas vaginitis", "urogenital infection by Trichomonas vaginalis"], "xref": ["DOID:0050269", "ICD10CM:A59.0", "ICD9:131.00", "ICD9:131.09", "MESH:D014247", "NCIT:C35083", "SCTID:35089004"]}
{"category": ["biolink:Disease"], "description": "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.", "id": "MONDO:0005994", "name": "Trichostrongyloidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichostrongyloidea caused disease or disorder", "Trichostrongyloidea disease or disorder", "Trichostrongyloidea infectious disease"], "xref": ["DOID:1255", "MEDGEN:11907", "MESH:D014252", "UMLS:C0040947"]}
{"category": ["biolink:Disease"], "description": "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.", "id": "MONDO:0005995", "name": "Trichostrongylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Trichostrongyliasis", "Trichostrongylus caused disease or disorder", "Trichostrongylus disease or disorder", "Trichostrongylus infectious disease"], "xref": ["DOID:1254", "EFO:0007523", "GARD:0027734", "ICD10CM:B81.2", "ICD9:127.6", "MEDGEN:11908", "MESH:D014253", "SCTID:33710003", "UMLS:C0040948"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.", "id": "MONDO:0005996", "name": "Trichuriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Trichuris trichiura caused disease or disorder", "Trichuris trichiura disease or disorder", "Trichuris trichiura infectious disease", "trichuriasis infection", "whipworm disease"], "xref": ["DOID:1252", "EFO:0007524", "ICD10CM:B79", "ICD10WHO:B79", "ICD9:127.3", "MEDGEN:1790401", "MESH:D014257", "NCIT:C128399", "SCTID:3752003", "UMLS:C5551334", "icd11.foundation:422746556"]}
{"category": ["biolink:Disease"], "description": "Narrowing or stricture of the tricuspid orifice of the heart.", "id": "MONDO:0005997", "name": "Tricuspid valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["tricuspid stenosis"], "xref": ["DOID:4078", "EFO:0007525", "HP:0010446", "MEDGEN:21678", "MESH:D014264", "NANDO:2200300", "NCIT:C50783", "SCTID:49915006", "UMLS:C0040963", "icd11.foundation:442626161"]}
{"category": ["biolink:Disease"], "description": "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.", "id": "MONDO:0005998", "name": "Trombiculiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trombiculidae caused disease or disorder", "Trombiculidae disease or disorder", "Trombiculidae infectious disease"], "xref": ["DOID:8399", "MEDGEN:11928", "MESH:D014323", "UMLS:C0041170"]}
{"category": ["biolink:Disease"], "description": "An empyema resulting from infection by Mycobacterium tuberculosis.", "id": "MONDO:0005999", "name": "Tuberculous empyema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["tuberculous empyema (& pleural)"], "xref": ["DOID:14305", "EFO:0007528", "GARD:0024267", "MEDGEN:4929", "MESH:D004654", "NCIT:C34575", "SCTID:14527007", "UMLS:C0014014"]}
{"category": ["biolink:Disease"], "description": "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.", "id": "MONDO:0006000", "name": "Tuberculous peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Mycobacterium tuberculosis caused peritonitis", "Mycobacterium tuberculosis peritonitis"], "xref": ["DOID:9801", "EFO:0007529", "GARD:0024268", "ICD10CM:A18.31", "ICD9:014.0", "ICD9:014.00", "ICD9:014.01", "MEDGEN:22516", "MESH:D014395", "SCTID:44572005", "UMLS:C0041325", "icd11.foundation:925657864"]}
{"category": ["biolink:Disease"], "description": "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.", "id": "MONDO:0006001", "name": "Urinary schistosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Schistosoma haematobium (& vesical schistosomiasis)", "Schistosoma hematobium infection", "schistosomiasis due to Schistosoma haematobium", "urinary bladder schistosomiasis"], "xref": ["DOID:1394", "EFO:0007530", "GARD:0024269", "ICD10CM:B65.0", "ICD9:120.0", "MEDGEN:312392", "MESH:D012553", "NCIT:C39294", "SCTID:236706006", "UMLS:C1704430"]}
{"category": ["biolink:Disease"], "description": "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.", "id": "MONDO:0006002", "name": "Urogenital tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["genitourinary system tuberculosis"], "xref": ["DOID:2149", "EFO:0007531", "GARD:0024270", "ICD9:016", "ICD9:016.9", "ICD9:016.90", "ICD9:016.92", "MEDGEN:11950", "MESH:D014401", "SCTID:4445009", "UMLS:C0041333"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the body of uterus.", "id": "MONDO:0006003", "name": "Uterine corpus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["body of uterus cancer", "cancer of body of uterus", "cancer of the corpus uteri", "corpus uteri cancer", "malignant body of uterus neoplasm", "malignant neoplasm of body of uterus", "uterine (including endometrial) cancer", "uterine corpus cancer"], "xref": ["DOID:9460", "EFO:0007532", "ICD9:182", "NCIT:C61574", "SCTID:371972005"]}
{"category": ["biolink:Disease"], "description": "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.", "id": "MONDO:0006004", "name": "Vasomotor rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4730", "EFO:0007533", "ICD10CM:J30.0", "MEDGEN:11229", "MESH:D012223", "NCIT:C34988", "SCTID:8229003", "UMLS:C0035460", "icd11.foundation:1286636442"]}
{"category": ["biolink:Disease"], "description": "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.", "id": "MONDO:0006005", "name": "Venezuelan equine encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Venezuelan equine encephalitis virus caused disease or disorder", "Venezuelan equine encephalitis virus disease or disorder", "Venezuelan equine encephalitis virus infectious disease"], "xref": ["DOID:9584", "EFO:0007534", "GARD:0006355", "ICD10CM:A92.2", "ICD9:066.2", "MEDGEN:4036", "MESH:D004685", "NCIT:C35121", "SCTID:417067005", "UMLS:C0014078", "icd11.foundation:608978790"]}
{"category": ["biolink:Disease"], "description": "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.", "id": "MONDO:0006006", "name": "Verrucous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["verrucous carcinoma", "verrucous carcinoma NOS (morphologic abnormality)", "verrucous epidermoid carcinoma", "verrucous epidermoid cell carcinoma", "verrucous squamous carcinoma", "verrucous squamous cell carcinoma"], "xref": ["DOID:3737", "EFO:0007535", "ICD9:199.1", "ICDO:8051/3", "MEDGEN:60213", "MESH:D018289", "NCIT:C3781", "SCTID:403904009", "UMLS:C0206706"]}
{"category": ["biolink:Disease"], "description": "Abnormal flow of urine from the urinary bladder back into the ureters.", "id": "MONDO:0006007", "name": "Vesicoureteral reflux", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vesicoureteral reflux", "vesicoureteral reflux (disease)"], "xref": ["DOID:9620", "EFO:0007536", "HP:0000076", "ICD9:593.7", "MEDGEN:21852", "MESH:D014718", "NANDO:2200179", "SCTID:197811007", "UMLS:C0042580", "icd11.foundation:2142055506"]}
{"category": ["biolink:Disease"], "description": "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)", "id": "MONDO:0006008", "name": "Vestibular neuronitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:12683", "EFO:0007537", "GARD:0024271", "ICD10CM:H81.2", "ICD9:078.81", "ICD9:386.12", "MEDGEN:155655", "MESH:D020338", "SCTID:186738001", "UMLS:C0751908"]}
{"category": ["biolink:Disease"], "description": "Encephalitis resulting from viral infection.", "id": "MONDO:0006009", "name": "Viral encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Viruses caused encephalitis", "Viruses encephalitis", "viral encephalitis"], "xref": ["DOID:646", "EFO:0007538", "GARD:0019433", "MEDGEN:116719", "MedDRA:10058805", "NCIT:C35302", "Orphanet:98252", "SCTID:34476008", "UMLS:C0243010"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.", "id": "MONDO:0006011", "name": "Viral hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hepatitis viral", "Viruses caused hepatitis", "Viruses hepatitis", "viral Hepatitis", "viral human hepatitis"], "xref": ["DOID:1884", "EFO:0004196", "ICD10CM:B15-B19", "ICD10WHO:B15-B19", "ICD9:573.1", "MEDGEN:22652", "MESH:D006525", "NCIT:C35124", "SCTID:3738000", "UMLS:C0042721", "icd11.foundation:985510409"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lung parenchyma that is caused by a viral infection.", "id": "MONDO:0006012", "name": "Viral pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Viruses caused pneumonia", "Viruses pneumonia"], "xref": ["DOID:10533", "EFO:0007541", "ICD9:480", "ICD9:480.8", "ICD9:480.9", "MEDGEN:45974", "MESH:D011024", "SCTID:75570004", "UMLS:C0032310", "icd11.foundation:1024154490"]}
{"category": ["biolink:Disease"], "description": "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.", "id": "MONDO:0006014", "name": "Vulvovaginal candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["candidal vulvovaginitis", "candidal: [vulvovaginitis NOS] or [cervix]", "candidal: cervix", "candidiasis of vulva and vagina", "monilial vulvovaginitis", "vaginal candidiasis", "vulvovaginal candidiasis"], "xref": ["DOID:2272", "EFO:0007543", "ICD10CM:B37.3", "ICD9:112.1", "MEDGEN:195979", "MESH:D002181", "NCIT:C2914", "SCTID:72605008", "UMLS:C0700345"]}
{"category": ["biolink:Disease"], "description": "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.", "id": "MONDO:0006015", "name": "Waterhouse-friderichsen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["WFS", "meningococcal hemorrhagic adrenalitis"], "xref": ["DOID:9931", "EFO:0007544", "GARD:0009449", "ICD10CM:A39.1", "ICD9:036.3", "MEDGEN:234675", "MESH:D014884", "MedDRA:10047847", "NCIT:C85225", "Orphanet:100067", "SCTID:36102002", "UMLS:C1403891", "icd11.foundation:2072098125"]}
{"category": ["biolink:Disease"], "description": "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.", "id": "MONDO:0006018", "name": "Wissler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Wissler syndrome", "Wissler's syndrome", "Wissler-Fanconi syndrome (finding)"], "xref": ["DOID:3047", "MEDGEN:53087", "MESH:D014924", "UMLS:C0043195"]}
{"category": ["biolink:Disease"], "description": "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.", "id": "MONDO:0006019", "name": "Yaws", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Bouba", "Treponema pallidum subsp. pertenue caused disease or disorder", "Treponema pallidum subsp. pertenue disease or disorder", "Treponema pallidum subsp. pertenue infectious disease", "frambesia", "frambesia tropica"], "xref": ["DOID:10371", "GARD:0007913", "ICD10CM:A66", "ICD10WHO:A66", "ICD9:102", "ICD9:102.7", "ICD9:102.9", "MEDGEN:12186", "MESH:D015001", "NCIT:C41353", "NORD:1872", "SCTID:70647001", "UMLS:C0043388", "icd11.foundation:840525023"]}
{"category": ["biolink:Disease"], "description": "A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.", "id": "MONDO:0006021", "name": "Prinzmetal angina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["angina inversa", "variant angina"], "xref": ["DOID:0111151", "EFO:1000013", "GARD:0007465", "ICD9:413.1", "MEDGEN:295", "MESH:D000788", "SCTID:87343002", "UMLS:C0002963", "Wikipedia:Prinzmetal's_angina", "icd11.foundation:563516749"]}
{"category": ["biolink:Disease"], "description": "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.", "id": "MONDO:0006022", "name": "Acidosis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acidosis"], "xref": ["EFO:1000014", "HP:0001941", "ICD10CM:E87.2", "ICD9:276.2", "MEDGEN:1296", "SCTID:51387008", "UMLS:C0001122"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of disease.", "id": "MONDO:0006025", "name": "Autosomal recessive disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autosomal recessive disease or disorder", "autosomal recessive hereditary disease", "autosomal recessive hereditary disorder", "autosomal recessive inherited disease", "autosomal recessive inherited disorder", "disease or disorder, autosomal recessive", "disease, autosomal recessive"], "xref": ["DOID:0050737", "EFO:1000017", "ICD9:758.5", "MEDGEN:539209", "SCTID:85995004", "UMLS:C0265388"]}
{"category": ["biolink:Disease"], "description": "A disease involving the urinary bladder.", "id": "MONDO:0006026", "name": "Urinary bladder disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder disease", "bladder disorder", "disease of urinary bladder", "disease or disorder of urinary bladder", "disorder of urinary bladder", "urinary bladder disease", "urinary bladder disease or disorder", "urinary bladder disorder"], "xref": ["DOID:365", "EFO:1000018", "ICD9:596.8", "ICD9:596.9", "MEDGEN:2278", "MESH:D001745", "NCIT:C2900", "SCTID:42643001", "UMLS:C0005686"]}
{"category": ["biolink:Disease"], "description": "A synovial sarcoma (disease) that involves the breast.", "id": "MONDO:0006027", "name": "Breast synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["breast synovial sarcoma (disease)"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the caecum", "id": "MONDO:0006028", "name": "Cecum adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma of cecum", "adenocarcinoma of the cecum", "caecum adenocarcinoma", "cecal adenocarcinoma", "cecum adenocarcinoma"], "xref": ["DOID:3039", "EFO:1000020", "MEDGEN:234098", "NCIT:C5543", "SCTID:413446001", "UMLS:C1332866"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the caecum", "id": "MONDO:0006029", "name": "Cecum carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["caecum carcinoma", "carcinoma of caecum", "carcinoma of cecum", "carcinoma of the cecum", "cecum carcinoma"], "xref": ["DOID:1519", "EFO:1000021", "MEDGEN:101762", "NCIT:C3491", "SCTID:255081007", "UMLS:C0149640"]}
{"category": ["biolink:Disease"], "description": "Recurrent infections of the urinary bladder.", "id": "MONDO:0006030", "name": "Chronic cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystitis, chronic"], "xref": ["DOID:1680", "EFO:1000023", "ICD9:595.2", "MEDGEN:65146", "NCIT:C27008", "SCTID:33655002", "UMLS:C0221763"]}
{"category": ["biolink:Disease"], "description": "Chronic form of sinusitis.", "id": "MONDO:0006031", "name": "Chronic rhinosinusitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic sinusitis", "sinusitis, chronic"], "xref": ["EFO:1000024", "ICD9:473.8", "ICD9:473.9", "MEDGEN:101751", "NCIT:C35151", "PMID:25838086", "SCTID:40055000", "UMLS:C0149516", "icd11.foundation:1836987572"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the urinary bladder.", "id": "MONDO:0006032", "name": "Cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder infection", "inflammation of urinary bladder", "urinary bladder inflammation"], "xref": ["DOID:1679", "EFO:1000025", "ICD10CM:N30", "ICD10WHO:N30", "ICD9:595", "ICD9:595.89", "ICD9:595.9", "MEDGEN:8227", "MESH:D003556", "NCIT:C26738", "SCTID:38822007", "UMLS:C0010692", "icd11.foundation:1181120673"]}
{"category": ["biolink:Disease"], "description": "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.", "id": "MONDO:0006033", "name": "Diffuse intrinsic pontine glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIPG"], "xref": ["EFO:1000026", "GARD:0013075", "MEDGEN:458884", "MESH:D000080443", "NCIT:C94764", "ONCOTREE:DIPG", "Orphanet:497188", "UMLS:C2986658"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.", "id": "MONDO:0006034", "name": "Gastric adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenosquamous carcinoma of stomach", "adenosquamous carcinoma of the stomach", "gastric (stomach) adenosquamous cancer", "gastric adenosquamous carcinoma", "stomach adenosquamous carcinoma"], "xref": ["DOID:5635", "EFO:1000029", "GARD:0024272", "MEDGEN:272661", "NCIT:C5474", "ONCOTREE:STAS", "UMLS:C1333761"]}
{"category": ["biolink:Disease"], "description": "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.", "id": "MONDO:0006035", "name": "Gastric tubular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric tubular adenocarcinoma", "stomach tubular adenocarcinoma", "tubular adenocarcinoma of stomach", "tubular adenocarcinoma of the stomach"], "xref": ["DOID:6595", "EFO:1000030", "GARD:0027735", "MEDGEN:234303", "NCIT:C5473", "ONCOTREE:TSTAD", "UMLS:C1333791"]}
{"category": ["biolink:Disease"], "description": "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.", "id": "MONDO:0006036", "name": "Granulosa cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["granulosa cell neoplasm", "granulosa cell neoplasm (disease)", "granulosa cell tumor", "granulosa cell tumor, adult type (morphologic abnormality)", "granulosa cell tumor, sarcomatoid", "neoplasm of granulosa cell", "tumor of granulosa cell", "tumour of granulosa cell"], "xref": ["DOID:2999", "EFO:1000032", "MEDGEN:6676", "MESH:D006106", "NCIT:C3070", "ONCOTREE:GRCT", "UMLS:C0018206"]}
{"category": ["biolink:Disease"], "description": "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.", "id": "MONDO:0006037", "name": "Hydrolethalus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050779", "GARD:0006683", "MEDGEN:419335", "MESH:C536079", "OMIMPS:236680", "Orphanet:2189", "SCTID:721232000", "UMLS:C2931104"]}
{"category": ["biolink:Disease"], "description": "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.", "id": "MONDO:0006038", "name": "Indeterminate colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colitis of indeterminate type"], "xref": ["EFO:1000034", "ICD10CM:K52.3", "ICD9:558.9", "MEDGEN:87418", "NCIT:C27110", "SCTID:235746007", "UMLS:C0341332", "icd11.foundation:553916326"]}
{"category": ["biolink:Disease"], "description": "A viral or bacterial infectious process affecting the large intestine.", "id": "MONDO:0006039", "name": "Infectious colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infectious colitis"], "xref": ["EFO:1000035", "MEDGEN:75798", "NCIT:C78359", "SCTID:39341005", "UMLS:C0277524"]}
{"category": ["biolink:Disease"], "description": "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.", "id": "MONDO:0006040", "name": "Lactic acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000036", "MEDGEN:1717", "MESH:D000140", "SCTID:91273001", "UMLS:C0001125"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.", "id": "MONDO:0006041", "name": "Lung carcinoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor (disease) of lung", "carcinoid tumor of lung", "carcinoid tumor of the lung", "carcinoid tumour (disease) of lung", "carcinoid tumour of lung", "carcinoid tumour of the lung", "lung carcinoid tumor", "lung carcinoid tumor (disease)", "lung carcinoid tumour (disease)", "pulmonary carcinoid tumor", "pulmonary carcinoid tumour"], "xref": ["EFO:1000037", "GARD:0024273", "MEDGEN:79070", "NCIT:C4038", "ONCOTREE:LUCA", "SCTID:254627002", "UMLS:C0280089"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.", "id": "MONDO:0006042", "name": "Meningeal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meningitis, Tuberculous", "TB meningitis", "TBM", "tubercular meningitis", "tuberculous meningitis"], "xref": ["EFO:1000039", "GARD:0007828", "ICD10CM:A17.0", "MEDGEN:21725", "MESH:D014390", "NCIT:C84888", "NORD:1437", "Orphanet:499004", "SCTID:58437007", "UMLS:C0041318"]}
{"category": ["biolink:Disease"], "description": "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.", "id": "MONDO:0006043", "name": "Metaplastic breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["metaplastic breast carcinoma", "metaplastic carcinoma of breast", "metaplastic carcinoma of the breast"], "xref": ["DOID:4680", "EFO:1000040", "GARD:0010804", "MEDGEN:277360", "NCIT:C5164", "ONCOTREE:MBC", "Orphanet:213531", "SCTID:763479005", "UMLS:C1334708", "icd11.foundation:313445809"]}
{"category": ["biolink:Disease"], "description": "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.", "id": "MONDO:0006044", "name": "Nephrosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11664", "EFO:1000041", "ICD9:587", "MEDGEN:14330", "MESH:D009400", "SCTID:32916005", "UMLS:C0027719", "icd11.foundation:1878591797"]}
{"category": ["biolink:Disease"], "description": "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.", "id": "MONDO:0006045", "name": "Ovarian clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["clear cell adenocarcinoma of ovary", "ovarian clear cell adenocarcinoma", "ovary clear cell adenocarcinoma"], "xref": ["DOID:5304", "EFO:1000042", "GARD:0021652", "MEDGEN:276659", "NCIT:C40078", "Orphanet:398971", "SCTID:763131005", "UMLS:C1518693", "icd11.foundation:315825558"]}
{"category": ["biolink:Disease"], "description": "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.", "id": "MONDO:0006046", "name": "Ovarian serous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian serous cystadenocarcinoma"], "xref": ["DOID:5746", "EFO:1000043", "GARD:0024274", "MEDGEN:83541", "NCIT:C7978", "UMLS:C0279663"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the pancreas", "id": "MONDO:0006047", "name": "Pancreatic adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma - pancreas", "adenocarcinoma of pancreas", "adenocarcinoma of the pancreas", "pancreas adenocarcinoma", "pancreatic adenocarcinoma"], "xref": ["DOID:4074", "EFO:1000044", "GARD:0027736", "MEDGEN:83800", "NCIT:C8294", "ONCOTREE:PAAD", "SCTID:700423003", "UMLS:C0281361", "icd11.foundation:1663659989"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.", "id": "MONDO:0006049", "name": "Papillary lung adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung papillary adenocarcinoma", "lung papillary-adenocarcinoma", "papillary adenocarcinoma of lung", "papillary adenocarcinoma of the lung", "papillary lung adenocarcinoma"], "xref": ["DOID:5588", "EFO:1000046", "GARD:0024275", "ICD9:162.9", "MEDGEN:277495", "NCIT:C5650", "SCTID:707411007", "UMLS:C1335325"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.", "id": "MONDO:0006050", "name": "Pleomorphic breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaplastic breast carcinoma"], "xref": ["EFO:1000047", "MEDGEN:307976", "NCIT:C5161", "UMLS:C1514169"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.", "id": "MONDO:0006052", "name": "Pulmonary tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung TB", "lung tuberculosis", "pulmonary TB"], "xref": ["DOID:2957", "EFO:1000049", "GARD:0024276", "ICD9:011", "ICD9:011.16", "ICD9:011.80", "ICD9:011.81", "ICD9:011.84", "ICD9:011.85", "ICD9:011.86", "ICD9:011.9", "ICD9:011.90", "ICD9:011.92", "ICD9:011.96", "MEDGEN:11947", "MESH:D014397", "NCIT:C26899", "SCTID:154283005", "UMLS:C0041327"]}
{"category": ["biolink:Disease"], "description": "A leiomyoma that involves the kidney.", "id": "MONDO:0006053", "name": "Renal leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["kidney leiomyoma", "leiomyoma of kidney"], "xref": ["EFO:1000050", "MEDGEN:1691847", "NCIT:C159209", "UMLS:C5204259"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.", "id": "MONDO:0006054", "name": "Reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of reproductive system", "neoplasm of the reproductive system", "reproductive neoplasm", "reproductive system neoplasm", "reproductive system neoplasm (disease)", "reproductive system tumor", "reproductive system tumour", "reproductive tumor", "reproductive tumour", "tumor of reproductive system", "tumor of the reproductive system", "tumour of reproductive system", "tumour of the reproductive system"], "xref": ["EFO:1000051", "MEDGEN:64246", "NCIT:C3674", "UMLS:C0178830"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a sex cord.", "id": "MONDO:0006055", "name": "Sex cord-stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sex cord stromal tumor", "Sex cord-stromal neoplasm", "Sex cord-stromal tumor", "Sex cord-stromal tumor, no ICD-O subtype", "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)", "Sex cord-stromal tumour", "neoplasm of sex cord", "sex cord neoplasm", "sex cord tumor", "sex cord tumour", "sex cord-stromal tumor", "specialised gonadal neoplasm", "specialised gonadal neoplasm (morphologic abnormality)", "specialised gonadal neoplasm NOS (morphologic abnormality)", "specialised gonadal tumour", "specialised gonadal tumour (qualifier value)", "specialized gonadal neoplasm (morphologic abnormality)", "specialized gonadal neoplasm NOS (morphologic abnormality)", "specialized gonadal tumor (qualifier value)", "tumor of sex cord", "tumour of sex cord"], "xref": ["DOID:192", "EFO:1000052", "ICDO:8590/1", "MEDGEN:104926", "NANDO:2200072", "NCIT:C3794", "UMLS:C0206724"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.", "id": "MONDO:0006056", "name": "Squamous cell breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["breast squamous cell carcinoma", "primary squamous cell breast carcinoma", "primary squamous cell carcinoma of breast", "primary squamous cell carcinoma of the breast", "scc of breast", "scc of the breast", "squamous breast carcinoma", "squamous carcinoma of breast", "squamous carcinoma of the breast", "squamous cell breast carcinoma", "squamous cell carcinoma of breast", "squamous cell carcinoma of the breast"], "xref": ["DOID:5514", "EFO:1000053", "GARD:0024277", "MEDGEN:233465", "NCIT:C5177", "ONCOTREE:MSCC", "UMLS:C1336079"]}
{"category": ["biolink:Disease"], "description": "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.", "id": "MONDO:0006058", "name": "Wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Wilms tumor", "Wilms' tumor", "Wilms' tumour"], "xref": ["GARD:0027737", "MEDGEN:10221", "MESH:D009396", "NCIT:C3267", "UMLS:C0027708"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.", "id": "MONDO:0006059", "name": "Nasal cavity squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nasal cavity squamous cell carcinoma", "squamous cell carcinoma of nasal cavity", "squamous cell carcinoma of the nasal cavity"], "xref": ["DOID:5515", "EFO:1000057", "GARD:0024278", "MEDGEN:79104", "NCIT:C8192", "UMLS:C0280333"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the nasopharynx.", "id": "MONDO:0006060", "name": "Nasopharyngeal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000058", "GARD:0024279", "MEDGEN:76017", "NCIT:C167265", "UMLS:C0279698"]}
{"category": ["biolink:Disease"], "description": "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery.", "id": "MONDO:0006061", "name": "Cervical artery dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000059", "MEDGEN:1709179", "UMLS:C5396999"]}
{"category": ["biolink:Disease"], "description": "Adult onset lactose intolerance", "id": "MONDO:0006065", "name": "Lactose intolerance adult type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adult lactase deficiency", "disaccharide intolerance 3", "hypolactasia, adult type", "lactase persistence/nonpersistence", "lactose intolerance, ADULT type"], "xref": ["EFO:1000063", "MEDGEN:75659", "OMIM:223100", "Orphanet:319681", "UMLS:C0268181"]}
{"category": ["biolink:Disease"], "description": "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.", "id": "MONDO:0006066", "name": "Acinar prostate adenocarcinoma, foamy gland variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000064", "GARD:0027738", "MEDGEN:1835068", "NCIT:C39882", "UMLS:C5787290"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.", "id": "MONDO:0006067", "name": "Acinar prostate mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinar colloid prostate adenocarcinoma", "colloid adenocarcinoma of prostate", "colloid adenocarcinoma of the prostate", "colloidal adenocarcinoma of prostate", "colloidal adenocarcinoma of the prostate", "colloidal prostate adenocarcinoma", "mucinous adenocarcinoma of prostate", "mucinous adenocarcinoma of the prostate", "prostate colloid adenocarcinoma"], "xref": ["DOID:3703", "EFO:1000065", "GARD:0027739", "MEDGEN:277536", "NCIT:C5537", "UMLS:C1335513"]}
{"category": ["biolink:Disease"], "description": "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.", "id": "MONDO:0006068", "name": "Acth-producing pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACTH producing pituitary gland adenoma", "ACTH secreting adenoma of pituitary", "ACTH secreting adenoma of the pituitary", "ACTH-producing pituitary adenoma", "ACTH-producing pituitary gland adenoma", "ACTH-secreting adenoma of pituitary", "ACTH-secreting adenoma of pituitary gland", "ACTH-secreting adenoma of the pituitary", "ACTH-secreting adenoma of the pituitary gland", "ACTHoma", "Corticotropinoma", "adrenocorticotropin producing adenoma of pituitary", "adrenocorticotropin producing adenoma of pituitary gland", "adrenocorticotropin producing adenoma of the pituitary", "adrenocorticotropin producing adenoma of the pituitary gland", "adrenocorticotropin producing pituitary adenoma", "adrenocorticotropin producing pituitary gland adenoma", "adrenocorticotropin secreting adenoma of pituitary", "adrenocorticotropin secreting adenoma of pituitary gland", "adrenocorticotropin secreting adenoma of the pituitary", "adrenocorticotropin secreting adenoma of the pituitary gland", "adrenocorticotropin secreting pituitary adenoma", "adrenocorticotropin secreting pituitary gland adenoma", "corticotroph adenoma", "corticotropic adenoma", "corticotropin secreting adenoma of the pituitary", "corticotropin secreting pituitary gland adenoma", "pituitary ACTH secreting adenoma", "pituitary ACTH-secreting adenoma", "pituitary corticotropin secreting adenoma", "pituitary gland ACTH-secreting adenoma"], "xref": ["EFO:1000066", "GARD:0024280", "MEDGEN:266291", "NCIT:C7462", "UMLS:C1306214"]}
{"category": ["biolink:Disease"], "description": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.", "id": "MONDO:0006069", "name": "Acth-producing pituitary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ACTH producing pituitary gland carcinoma", "malignant ACTH producing neoplasm of pituitary", "malignant ACTH producing neoplasm of pituitary gland", "malignant ACTH producing neoplasm of the pituitary", "malignant ACTH producing neoplasm of the pituitary gland", "malignant ACTH producing pituitary gland neoplasm", "malignant ACTH producing pituitary gland tumor", "malignant ACTH producing pituitary gland tumour", "malignant ACTH producing pituitary neoplasm", "malignant ACTH producing pituitary tumor", "malignant ACTH producing pituitary tumour", "malignant ACTH producing tumor of pituitary", "malignant ACTH producing tumor of pituitary gland", "malignant ACTH producing tumor of the pituitary", "malignant ACTH producing tumor of the pituitary gland", "malignant ACTH producing tumour of pituitary", "malignant ACTH producing tumour of pituitary gland", "malignant ACTH producing tumour of the pituitary", "malignant ACTH producing tumour of the pituitary gland", "malignant ACTH secreting neoplasm of pituitary", "malignant ACTH secreting neoplasm of pituitary gland", "malignant ACTH secreting neoplasm of the pituitary", "malignant ACTH secreting neoplasm of the pituitary gland", "malignant ACTH secreting pituitary gland tumor", "malignant ACTH secreting pituitary gland tumour", "malignant ACTH secreting pituitary neoplasm", "malignant ACTH secreting pituitary tumor", "malignant ACTH secreting pituitary tumour", "malignant ACTH secreting tumor of pituitary", "malignant ACTH secreting tumor of pituitary gland", "malignant ACTH secreting tumor of the pituitary", "malignant ACTH secreting tumor of the pituitary gland", "malignant ACTH secreting tumour of pituitary", "malignant ACTH secreting tumour of pituitary gland", "malignant ACTH secreting tumour of the pituitary", "malignant ACTH secreting tumour of the pituitary gland", "malignant Corticotropinoma of pituitary", "malignant Corticotropinoma of pituitary gland", "malignant Corticotropinoma of the pituitary", "malignant Corticotropinoma of the pituitary gland", "malignant adrenocorticotropin producing neoplasm of pituitary", "malignant adrenocorticotropin producing neoplasm of pituitary gland", "malignant adrenocorticotropin producing neoplasm of the pituitary", "malignant adrenocorticotropin producing neoplasm of the pituitary gland", "malignant adrenocorticotropin producing pituitary gland neoplasm", "malignant adrenocorticotropin producing pituitary gland tumor", "malignant adrenocorticotropin producing pituitary gland tumour", "malignant adrenocorticotropin producing pituitary neoplasm", "malignant adrenocorticotropin producing pituitary tumor", "malignant adrenocorticotropin producing pituitary tumour", "malignant adrenocorticotropin producing tumor of pituitary", "malignant adrenocorticotropin producing tumor of pituitary gland", "malignant adrenocorticotropin producing tumor of the pituitary", "malignant adrenocorticotropin producing tumor of the pituitary gland", "malignant adrenocorticotropin producing tumour of pituitary", "malignant adrenocorticotropin producing tumour of pituitary gland", "malignant adrenocorticotropin producing tumour of the pituitary", "malignant adrenocorticotropin producing tumour of the pituitary gland", "malignant adrenocorticotropin secreting pituitary gland neoplasm", "malignant adrenocorticotropin secreting pituitary gland tumor", "malignant adrenocorticotropin secreting pituitary gland tumour", "malignant adrenocorticotropin secreting pituitary neoplasm", "malignant adrenocorticotropin secreting pituitary tumor", "malignant adrenocorticotropin secreting pituitary tumour", "malignant corticotropin secreting pituitary gland neoplasm", "malignant pituitary Corticotropinoma", "malignant pituitary gland Corticotropinoma"], "xref": ["DOID:6276", "EFO:1000067", "GARD:0024281", "MEDGEN:233657", "NCIT:C5964", "UMLS:C1334556"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.", "id": "MONDO:0006071", "name": "Adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenofibroma, benign", "adenofibroma, no ICD-O subtype", "adenofibroma, no ICD-O subtype (morphologic abnormality)", "benign mixed Muellerian tumor", "benign mixed Muellerian tumour", "female reproductive system adenofibroma"], "xref": ["DOID:2683", "EFO:1000070", "ICDO:9013/0", "MEDGEN:1325", "MESH:D000232", "NCIT:C8984", "UMLS:C0001422"]}
{"category": ["biolink:Disease"], "description": "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.", "id": "MONDO:0006073", "name": "Adenomatoid odontogenic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenomatoid odontogenic neoplasm"], "xref": ["EFO:1000072", "GARD:0027740", "ICDO:9300/0", "MEDGEN:137782", "MESH:C538229", "NCIT:C4310", "UMLS:C0334565"]}
{"category": ["biolink:Disease"], "description": "A carcinoma composed of malignant glandular cells and malignant squamous cells.", "id": "MONDO:0006074", "name": "Adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenosquamous carcinoma", "adenosquamous carcinoma (morphologic abnormality)", "carcinoma, adenosquamous, malignant", "mixed adenocarcinoma and epidermoid carcinoma", "mixed adenocarcinoma and epidermoid cell carcinoma", "mixed adenocarcinoma and squamous carcinoma", "mixed adenocarcinoma and squamous cell carcinoma"], "xref": ["DOID:4830", "EFO:1000073", "ICDO:8560/3", "MEDGEN:104901", "MESH:D018196", "NCIT:C3727", "SCTID:403902008", "UMLS:C0206623", "icd11.foundation:1793155313"]}
{"category": ["biolink:Disease"], "description": "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.", "id": "MONDO:0006075", "name": "Adrenal gland myelolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MYELOLIPOMA, benign", "Myelolipoma", "adrenal gland myelolipoma"], "xref": ["EFO:1000074", "GARD:0024282", "ICDO:8870/0", "MEDGEN:64623", "MESH:D018209", "NCIT:C3736", "SCTID:719049003", "UMLS:C0206635"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma arising from the adrenal gland.", "id": "MONDO:0006076", "name": "Adrenal gland neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland neuroblastoma", "adrenal neuroblastoma", "neuroblastoma of adrenal", "neuroblastoma of adrenal gland", "neuroblastoma of the adrenal", "neuroblastoma of the adrenal gland"], "xref": ["DOID:5718", "EFO:1000075", "GARD:0024283", "MEDGEN:154328", "NCIT:C4827", "SCTID:281562007", "UMLS:C0559460"]}
{"category": ["biolink:Disease"], "description": "A hyperplasia that involves the adrenal medulla.", "id": "MONDO:0006077", "name": "Adrenal medullary hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenal medulla hyperplasia"], "xref": ["EFO:1000076", "GARD:0027350", "MEDGEN:231356", "NCIT:C35838", "Orphanet:688649", "UMLS:C1332177"]}
{"category": ["biolink:Disease"], "description": "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.", "id": "MONDO:0006078", "name": "Aids-related primary central nervous system lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AIDS related lymphoma of primary central nervous system", "AIDS related lymphoma of the primary central nervous system", "AIDS related primary CNS lymphoma", "AIDS related primary central nervous system lymphoma", "AIDS-related lymphoma of primary central nervous system", "AIDS-related lymphoma of the primary central nervous system", "AIDS-related primary CNS lymphoma"], "xref": ["EFO:1000077", "GARD:0024284", "MEDGEN:79263", "NCIT:C8284", "UMLS:C0281241"]}
{"category": ["biolink:Disease"], "description": "A rare, cytologically malignant ameloblastoma that may metastasize.", "id": "MONDO:0006079", "name": "Ameloblastic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ameloblastic carcinoma", "odontoma, ameloblastic, malignant"], "xref": ["EFO:1000078", "GARD:0011855", "MEDGEN:231088", "NCIT:C7492", "NORD:763", "Orphanet:314422", "UMLS:C1314678"]}
{"category": ["biolink:Disease"], "description": "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.", "id": "MONDO:0006081", "name": "Anal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["anal malignant melanoma", "anal melanoma", "anus melanoma", "anus melanoma (disease)", "malignant anus melanoma", "malignant melanoma of anus", "malignant melanoma of the anus", "melanoma (disease) of anus", "melanoma of anus", "melanoma of the anus"], "xref": ["DOID:14145", "EFO:1000080", "GARD:0024285", "MEDGEN:91151", "NCIT:C4639", "ONCOTREE:ARMM", "SCTID:276821000", "UMLS:C0349538"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.", "id": "MONDO:0006082", "name": "Anal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["anal squamous cell cancer", "anal squamous cell carcinoma", "anus squamous cell carcinoma", "epidermoid anal carcinoma", "epidermoid carcinoma of anus", "epidermoid carcinoma of the anus", "squamous cell anal carcinoma", "squamous cell carcinoma - anus", "squamous cell carcinoma of anus", "squamous cell carcinoma of the anus"], "xref": ["DOID:5525", "EFO:1000081", "GARD:0024286", "MEDGEN:237257", "NCIT:C9161", "ONCOTREE:ANSC", "UMLS:C1412036"]}
{"category": ["biolink:Disease"], "description": "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.", "id": "MONDO:0006085", "name": "Angiolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angiolipoma, benign"], "xref": ["DOID:3616", "EFO:1000085", "ICDO:8861/0", "MEDGEN:64621", "MESH:D018206", "NCIT:C3733", "SCTID:404057003", "UMLS:C0206632"]}
{"category": ["biolink:Disease"], "description": "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.", "id": "MONDO:0006086", "name": "Angiomyxoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000087", "ICD9:215.9", "ICDO:8841/0", "ICDO:8841/1", "MEDGEN:1790210", "NCIT:C3254", "SCTID:404083008", "UMLS:C5551004"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the vermiform appendix.", "id": "MONDO:0006087", "name": "Appendix adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of appendix", "adenocarcinoma of the appendix", "appendiceal adenocarcinoma", "appendix adenocarcinoma", "vermiform appendix adenocarcinoma"], "xref": ["DOID:3608", "EFO:1000088", "GARD:0010564", "MEDGEN:65942", "NCIT:C7718", "ONCOTREE:APAD", "SCTID:413445002", "UMLS:C0238003", "icd11.foundation:1696330825"]}
{"category": ["biolink:Disease"], "description": "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.", "id": "MONDO:0006088", "name": "Appendix adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["appendix adenoma", "vermiform appendix adenoma"], "xref": ["EFO:1000089", "GARD:0024287", "MEDGEN:312900", "NCIT:C43550", "UMLS:C1706829"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.", "id": "MONDO:0006090", "name": "Appendix hyperplastic polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["appendix metaplastic polyp", "vermiform appendix hyperplastic polyp"], "xref": ["MEDGEN:474394", "NCIT:C96416", "UMLS:C3272761"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006091", "name": "Appendix neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["appendiceal carcinoid tumor", "appendiceal carcinoid tumour", "appendix NET G1", "appendix NET G1 (carcinoid)", "appendix carcinoid tumor", "appendix carcinoid tumour", "appendix neuroendocrine tumor G1 (carcinoid)", "appendix neuroendocrine tumour G1 (carcinoid)", "carcinoid tumor of appendix", "carcinoid tumor of the appendix", "carcinoid tumour of appendix", "carcinoid tumour of the appendix", "grade 1 neuroendocrine neoplasm of vermiform appendix", "vermiform appendix NET G1", "vermiform appendix carcinoid tumor", "vermiform appendix carcinoid tumor (disease)", "vermiform appendix carcinoid tumour", "vermiform appendix carcinoid tumour (disease)", "vermiform appendix neuroendocrine neoplasm G1", "vermiform appendix neuroendocrine tumor, well differentiated, low grade"], "xref": ["DOID:0050911", "EFO:1000092", "GARD:0024288", "ICD9:209.11", "ICDO:8240/1", "MEDGEN:90758", "NCIT:C4138", "SCTID:253002004", "UMLS:C0334298"]}
{"category": ["biolink:Disease"], "description": "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.", "id": "MONDO:0006092", "name": "Appendix villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["appendix villous adenoma", "vermiform appendix villous adenoma", "villous adenoma of appendix", "villous adenoma of the appendix"], "xref": ["EFO:1000093", "GARD:0024289", "MEDGEN:233993", "NCIT:C5512", "UMLS:C1332329"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006093", "name": "Ascending colon neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ascending colon NET G1", "ascending colon carcinoid tumor", "ascending colon carcinoid tumor (disease)", "ascending colon carcinoid tumour", "ascending colon carcinoid tumour (disease)", "ascending colon neuroendocrine neoplasm G1", "ascending colon neuroendocrine tumor G1", "ascending colon neuroendocrine tumor, well differentiated, low grade", "carcinoid tumor of ascending colon", "carcinoid tumor of the ascending colon", "carcinoid tumour of ascending colon", "carcinoid tumour of the ascending colon", "grade 1 neuroendocrine neoplasm of ascending colon"], "xref": ["GARD:0024290", "MEDGEN:231386", "NCIT:C6427", "UMLS:C1332340"]}
{"category": ["biolink:Disease"], "description": "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.", "id": "MONDO:0006094", "name": "Askin tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Askin tumor", "Askin's tumor", "PNET of thoracopulmonary region", "peripheral neuroectodermal tumor of thoracopulmonary region", "peripheral neuroectodermal tumour of thoracopulmonary region", "small cell tumor of thoracopulmonary region", "small cell tumour of thoracopulmonary region"], "xref": ["DOID:0050608", "EFO:1000095", "GARD:0024291", "ICDO:9365/3", "MEDGEN:209112", "MESH:C563168", "NCIT:C7542", "UMLS:C0877849"]}
{"category": ["biolink:Disease"], "description": "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.", "id": "MONDO:0006095", "name": "Atypical carcinoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["atypical carcinoid tumor", "malignant carcinoid tumor", "malignant carcinoid tumour"], "xref": ["EFO:1000097", "GARD:0024292", "MEDGEN:226834", "NCIT:C72074", "SCTID:445238008", "UMLS:C1266032"]}
{"category": ["biolink:Disease"], "description": "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.", "id": "MONDO:0006096", "name": "Atypical endometrial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atypical hyperplasia of endometrium", "atypical hyperplasia of the endometrium", "endometrial hyperplasia with atypia"], "xref": ["EFO:1000098", "ICD9:621.33", "MEDGEN:138105", "NCIT:C4654", "SCTID:277158007", "UMLS:C0349579"]}
{"category": ["biolink:Disease"], "description": "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.", "id": "MONDO:0006097", "name": "Atypical lipomatous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ALT", "Atypical lipoma", "lipoma-like liposarcoma", "liposarcoma, well differentiated (morphologic abnormality)", "superficial well differentiated liposarcoma", "well differentiated liposarcoma of superficial soft tissue"], "xref": ["DOID:5690", "EFO:1000099", "ICDO:8850/1", "MEDGEN:266102", "NCIT:C6505", "UMLS:C1266129"]}
{"category": ["biolink:Disease"], "description": "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.", "id": "MONDO:0006098", "name": "Atypical lobular breast hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ALH", "atypical breast lobular hyperplasia", "atypical lobular breast hyperplasia", "atypical lobular hyperplasia", "atypical lobular hyperplasia of breast", "atypical lobular hyperplasia of the breast"], "xref": ["EFO:1000100", "ICD9:610.8", "MEDGEN:277968", "NCIT:C4730", "SCTID:450697004", "UMLS:C1368920"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.", "id": "MONDO:0006102", "name": "Basaloid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basaloid carcinoma"], "xref": ["EFO:1000105", "ICDO:8123/3", "MEDGEN:316439", "NCIT:C4121", "UMLS:C1704216"]}
{"category": ["biolink:Disease"], "description": "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.", "id": "MONDO:0006103", "name": "Benign adrenal gland pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland pheochromocytoma, benign", "benign adrenal gland pheochromocytoma", "pheochromocytoma, benign"], "xref": ["EFO:1000106", "GARD:0024293", "MEDGEN:317403", "NCIT:C48305", "UMLS:C1706920"]}
{"category": ["biolink:Disease"], "description": "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.", "id": "MONDO:0006104", "name": "Benign carotid body paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign carotid body paraganglioma", "carotid body paraganglioma, benign"], "xref": ["EFO:1000108", "GARD:0024294", "MEDGEN:396868", "NCIT:C79950", "UMLS:C2698359"]}
{"category": ["biolink:Disease"], "description": "Abnormal growth of the cells of the conjunctiva without malignant characteristics.", "id": "MONDO:0006105", "name": "Benign conjunctival neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign conjunctiva neoplasm", "benign conjunctiva tumor", "benign conjunctiva tumour", "benign conjunctival neoplasm", "benign conjunctival tumor", "benign conjunctival tumour", "benign neoplasm of conjunctiva", "benign neoplasm of the conjunctiva", "benign tumor of conjunctiva", "benign tumor of the conjunctiva", "benign tumour of conjunctiva", "benign tumour of the conjunctiva", "conjunctiva benign neoplasm"], "xref": ["EFO:1000110", "ICD10CM:D31.0", "MEDGEN:56328", "NCIT:C3622", "SCTID:92068002", "UMLS:C0154025"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal neoplasm arising from smooth muscle tissue.", "id": "MONDO:0006106", "name": "Benign smooth muscle neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of smooth muscle", "benign neoplasm of the smooth muscle", "benign smooth muscle neoplasm", "benign smooth muscle tumor", "benign smooth muscle tumour", "benign tumor of smooth muscle", "benign tumor of the smooth muscle", "benign tumour of smooth muscle", "benign tumour of the smooth muscle", "smooth muscle tissue benign neoplasm"], "xref": ["EFO:1000121", "NCIT:C6510"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from the thyroid gland.", "id": "MONDO:0006107", "name": "Benign thyroid gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign neoplasm of the thyroid", "benign neoplasm of the thyroid gland", "benign neoplasm of thyroid", "benign neoplasm of thyroid gland", "benign neoplasm of thyroid glands", "benign thyroid gland neoplasm", "benign thyroid gland tumor", "benign thyroid gland tumour", "benign thyroid neoplasm", "benign thyroid tumor", "benign thyroid tumour", "benign tumor of the thyroid", "benign tumor of the thyroid gland", "benign tumor of thyroid", "benign tumor of thyroid gland", "benign tumour of the thyroid", "benign tumour of the thyroid gland", "benign tumour of thyroid", "benign tumour of thyroid gland", "thyroid gland benign neoplasm", "thyroid neoplasm, benign"], "xref": ["EFO:1000122", "GARD:0024295", "ICD10CM:D34", "ICD9:226", "MEDGEN:102306", "NCIT:C3628", "SCTID:92439006", "UMLS:C0154038"]}
{"category": ["biolink:Disease"], "description": "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.", "id": "MONDO:0006108", "name": "Bile duct adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CHOLANGIOMA, benign", "Cholangioadenoma", "Cholangioma", "Hepatocholangiocellular adenoma", "Hepatocholangioma", "adenoma of bile duct", "adenoma of the bile duct", "bile duct adenoma", "bile duct adenoma (morphologic abnormality)"], "xref": ["DOID:5381", "EFO:1000123", "ICDO:8160/0", "MEDGEN:918", "MESH:D002759", "NCIT:C2942", "SCTID:424091006", "UMLS:C0008309"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.", "id": "MONDO:0006109", "name": "Malignant biphasic mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["biphasic mesothelioma", "malignant biphasic mesothelioma", "malignant biphasic mesothelioma, malignant", "malignant mixed mesothelioma", "mesothelioma, biphasic, malignant (morphologic abnormality)", "mixed mesothelioma"], "xref": ["DOID:4486", "EFO:1000124", "GARD:0024296", "ICDO:9053/3", "MEDGEN:137775", "NCIT:C4282", "UMLS:C0334515"]}
{"category": ["biolink:Disease"], "description": "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.", "id": "MONDO:0006111", "name": "Bladder flat intraepithelial lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder flat intraepithelial lesion", "flat intraepithelial lesion of the bladder", "flat intraepithelial lesion of the urinary bladder", "urinary bladder flat intraepithelial lesion"], "xref": ["DOID:5429", "EFO:1000126", "MEDGEN:231947", "NCIT:C37266", "UMLS:C1332559"]}
{"category": ["biolink:Disease"], "description": "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.", "id": "MONDO:0006112", "name": "Bladder inflammatory myofibroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bladder inflammatory myofibroblastic neoplasm", "bladder inflammatory myofibroblastic tumor", "inflammatory myofibroblastic neoplasm of bladder", "inflammatory myofibroblastic neoplasm of the bladder", "inflammatory myofibroblastic neoplasm of the urinary bladder", "inflammatory myofibroblastic neoplasm of urinary bladder", "inflammatory myofibroblastic tumor of bladder", "inflammatory myofibroblastic tumor of the bladder", "inflammatory myofibroblastic tumor of the urinary bladder", "inflammatory myofibroblastic tumor of urinary bladder", "inflammatory myofibroblastic tumour of bladder", "inflammatory myofibroblastic tumour of the bladder", "inflammatory myofibroblastic tumour of the urinary bladder", "inflammatory myofibroblastic tumour of urinary bladder", "urinary bladder inflammatory myofibroblastic neoplasm", "urinary bladder inflammatory myofibroblastic tumor", "urinary bladder inflammatory myofibroblastic tumour"], "xref": ["EFO:1000127", "GARD:0024297", "MEDGEN:237036", "NCIT:C6177", "ONCOTREE:IMTB", "UMLS:C1336891"]}
{"category": ["biolink:Disease"], "description": "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).", "id": "MONDO:0006115", "name": "Blast phase chronic myelogenous leukemia, bcr-abl1 positive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["blast crisis", "blast phase CML", "blast phase chronic granulocytic leukaemia", "blast phase chronic granulocytic leukemia", "blast phase chronic myelocytic leukaemia", "blast phase chronic myelocytic leukemia", "blast phase chronic myelogenous leukaemia", "blast phase chronic myelogenous leukemia", "blast phase chronic myeloid leukaemia", "blast phase chronic myeloid leukemia", "blastic phase CML", "blastic phase chronic granulocytic leukaemia", "blastic phase chronic granulocytic leukemia", "blastic phase chronic myelocytic leukaemia", "blastic phase chronic myelocytic leukemia", "blastic phase chronic myelogenous leukaemia", "blastic phase chronic myelogenous leukemia", "blastic phase chronic myeloid leukaemia", "blastic phase chronic myeloid leukemia"], "xref": ["EFO:1000131", "GARD:0024298", "MEDGEN:2281", "MESH:D001752", "NCIT:C9110", "SCTID:413656006", "UMLS:C0005699"]}
{"category": ["biolink:Disease"], "description": "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.", "id": "MONDO:0006116", "name": "Breast carcinoma by gene expression profile", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast carcinoma by gene expression profile"], "xref": ["EFO:1000143", "MEDGEN:770984", "NCIT:C53553", "UMLS:C3642344"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.", "id": "MONDO:0006117", "name": "Breast diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["breast DLBCL", "breast diffuse large B-cell lymphoma", "diffuse large B-cell lymphoma of breast"], "xref": ["EFO:1000144", "GARD:0024299", "MEDGEN:267764", "NCIT:C40375", "UMLS:C1511306"]}
{"category": ["biolink:Disease"], "description": "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.", "id": "MONDO:0006118", "name": "Breast fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast fibrosclerosis", "breast fibrosis", "fibrosclerosis of breast", "fibrosclerosis of the breast", "fibrosis of breast", "fibrosis of the breast"], "xref": ["DOID:10353", "EFO:1000145", "ICD10CM:N60.3", "ICD9:610.3", "MEDGEN:57627", "NCIT:C3660", "SCTID:29070004", "UMLS:C0156318"]}
{"category": ["biolink:Disease"], "description": "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.", "id": "MONDO:0006119", "name": "Breast mucosa-associated lymphoid tissue lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["breast MALT lymphoma", "breast mucosa-associated lymphoid tissue lymphoma"], "xref": ["GARD:0024300", "MEDGEN:234051", "NCIT:C35688", "UMLS:C1332633"]}
{"category": ["biolink:Disease"], "description": "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).", "id": "MONDO:0006120", "name": "C-cell hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["C-cell hyperplasia"], "xref": ["EFO:1000147", "MEDGEN:90975", "NCIT:C46100", "UMLS:C0342190"]}
{"category": ["biolink:Disease"], "description": "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.", "id": "MONDO:0006121", "name": "Calcifying fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CFT", "calcifying fibrous pseudotumor", "calcifying fibrous tumor"], "xref": ["EFO:1000148", "MEDGEN:232021", "NCIT:C6488", "UMLS:C1332833"]}
{"category": ["biolink:Disease"], "description": "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.", "id": "MONDO:0006122", "name": "Calcifying nested epithelial stromal tumor of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000149", "GARD:0027741", "ICDO:8975/1", "MEDGEN:758637", "NCIT:C96830", "UMLS:C3472610"]}
{"category": ["biolink:Disease"], "description": "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.", "id": "MONDO:0006123", "name": "Cardiac rhabdomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cardiac rhabdomyoma", "cardiac rhabdomyoma (disease)", "heart rhabdomyoma", "rhabdomyoma of heart", "rhabdomyoma of the heart"], "xref": ["EFO:1000150", "GARD:0027742", "HP:0009729", "MEDGEN:232027", "NCIT:C6739", "UMLS:C1332852"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006126", "name": "Cecum neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["caecal carcinoid tumor", "caecal carcinoid tumour", "caecum NET G1", "caecum carcinoid tumor", "caecum carcinoid tumor (disease)", "caecum carcinoid tumour", "caecum carcinoid tumour (disease)", "caecum neuroendocrine neoplasm G1", "caecum neuroendocrine tumor, well differentiated, low grade", "carcinoid tumor of cecum", "carcinoid tumor of the cecum", "carcinoid tumour of cecum", "carcinoid tumour of the cecum", "cecal carcinoid tumor", "cecal carcinoid tumour", "cecum NET G1", "cecum carcinoid tumor", "cecum carcinoid tumour", "cecum neuroendocrine tumor G1", "grade 1 neuroendocrine neoplasm of caecum"], "xref": ["GARD:0024301", "MEDGEN:167703", "NCIT:C5501", "UMLS:C0854488"]}
{"category": ["biolink:Disease"], "description": "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.", "id": "MONDO:0006128", "name": "Central nervous system anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic CNS large cell lymphoma", "anaplastic central nervous system large cell lymphoma", "anaplastic large cell lymphoma of CNS", "anaplastic large cell lymphoma of central nervous system", "anaplastic large cell lymphoma of the CNS", "anaplastic large cell lymphoma of the central nervous system", "central nervous system anaplastic large cell lymphoma", "primary CNS anaplastic large cell lymphoma", "primary central nervous system anaplastic large cell lymphoma"], "xref": ["EFO:1000156", "GARD:0024302", "MEDGEN:235493", "NCIT:C5322", "UMLS:C1335476"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.", "id": "MONDO:0006130", "name": "Central nervous system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CNS neoplasm", "CNS tumor", "CNS tumour", "brain/spinal cord tumor", "brain/spinal cord tumour", "central nervous system neoplasm", "central nervous system neoplasm (disease)", "central nervous system tumor", "central nervous system tumour", "neoplasm of CNS", "neoplasm of central nervous system", "neoplasm of the central nervous system", "tumor of CNS", "tumor of central nervous system", "tumor of the CNS", "tumor of the central nervous system", "tumour of CNS", "tumour of central nervous system", "tumour of the CNS", "tumour of the central nervous system"], "xref": ["EFO:1000158", "MEDGEN:88335", "NCIT:C9293", "UMLS:C0085136"]}
{"category": ["biolink:Disease"], "description": "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)", "id": "MONDO:0006131", "name": "Cerebellar liponeurocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cerebellar liponeurocytoma", "cerebellar liponeurocytoma (WHO grade II)", "lipomatous medulloblastoma"], "xref": ["DOID:6458", "EFO:1000159", "GARD:0010642", "ICDO:0000/0", "MEDGEN:237160", "NCIT:C6905", "ONCOTREE:CLNC", "Orphanet:251931", "SCTID:716592003", "UMLS:C1370507"]}
{"category": ["biolink:Disease"], "description": "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.", "id": "MONDO:0006132", "name": "Cervical adenoid basal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenoid basal carcinoma of the cervix uteri", "cervical adenoid basal cancer", "cervical adenoid basal carcinoma", "skin adenoid basal cell carcinoma of uterine cervix", "uterine cervix skin adenoid basal cell carcinoma"], "xref": ["DOID:6428", "EFO:1000160", "GARD:0020499", "MEDGEN:275704", "NCIT:C40213", "ONCOTREE:CABC", "Orphanet:213828", "UMLS:C1516403"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.", "id": "MONDO:0006133", "name": "Cervical adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of cervix", "adenoid cystic carcinoma of cervix uteri", "adenoid cystic carcinoma of the cervix", "adenoid cystic carcinoma of the cervix uteri", "adenoid cystic carcinoma of the uterine cervix", "adenoid cystic carcinoma of uterine cervix", "cervical adenoid cystic cancer", "cervical adenoid cystic carcinoma", "cervix uteri adenoid cystic carcinoma", "uterine cervix adenoid cystic carcinoma"], "xref": ["DOID:4867", "EFO:1000161", "GARD:0020498", "MEDGEN:232337", "NCIT:C6346", "ONCOTREE:CACC", "Orphanet:213823", "UMLS:C1332911"]}
{"category": ["biolink:Disease"], "description": "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.", "id": "MONDO:0006134", "name": "Cervical adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenosquamous cell carcinoma of cervix", "adenosquamous cell carcinoma of cervix uteri", "adenosquamous cell carcinoma of the cervix", "adenosquamous cell carcinoma of the cervix uteri", "adenosquamous cell carcinoma of the uterine cervix", "adenosquamous cell carcinoma of uterine cervix", "cervical adenosquamous cancer", "cervical adenosquamous carcinoma", "cervical adenosquamous cell carcinoma", "cervix adenosquamous cell carcinoma", "cervix uteri adenosquamous cell carcinoma", "uterine cervix adenosquamous cell carcinoma"], "xref": ["DOID:5636", "EFO:1000162", "GARD:0024303", "MEDGEN:91091", "NCIT:C4519", "ONCOTREE:CEAS", "SCTID:254888007", "UMLS:C0346202"]}
{"category": ["biolink:Disease"], "description": "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).", "id": "MONDO:0006135", "name": "Cervical clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cervical clear cell adenocarcinoma", "cervical clear cell carcinoma", "cervix clear cell adenocarcinoma", "cervix clear cell carcinoma", "cervix uteri clear cell adenocarcinoma", "cervix uteri clear cell carcinoma", "clear cell adenocarcinoma of cervix", "clear cell adenocarcinoma of cervix uteri", "clear cell adenocarcinoma of the cervix", "clear cell adenocarcinoma of the cervix uteri", "clear cell adenocarcinoma of the uterine cervix", "clear cell adenocarcinoma of uterine cervix", "clear cell carcinoma of cervix", "clear cell carcinoma of cervix uteri", "clear cell carcinoma of the cervix", "clear cell carcinoma of the cervix uteri", "clear cell carcinoma of the uterine cervix", "clear cell carcinoma of uterine cervix", "uterine cervix clear cell adenocarcinoma", "uterine cervix clear cell carcinoma"], "xref": ["DOID:5303", "EFO:1000163", "GARD:0024304", "MEDGEN:234113", "NCIT:C6344", "ONCOTREE:CECC", "UMLS:C1332912"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.", "id": "MONDO:0006137", "name": "Cervical intraepithelial neoplasia grade 2/3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CIN 2/3"], "xref": ["EFO:1000166", "GARD:0024305", "MEDGEN:458848", "NCIT:C94676", "UMLS:C2986622"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.", "id": "MONDO:0006138", "name": "Cervical large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cervical large cell neuroendocrine carcinoma"], "xref": ["DOID:6659", "EFO:1000167", "GARD:0024306", "MEDGEN:275711", "NCIT:C40214", "ONCOTREE:CENE", "UMLS:C1516417"]}
{"category": ["biolink:Disease"], "description": "Metaplastic changes in the cervical glandular or squamous epithelium.", "id": "MONDO:0006139", "name": "Cervical metaplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000168", "MEDGEN:129096", "UMLS:C0281796"]}
{"category": ["biolink:Disease"], "description": "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.", "id": "MONDO:0006140", "name": "Cervical mucinous adenocarcinoma, minimal deviation variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cervical adenoma malignum", "cervical mucinous adenocarcinoma, minimal deviation type", "cervical mucinous adenocarcinoma, minimal deviation variant"], "xref": ["DOID:6627", "EFO:1000169", "GARD:0024307", "MEDGEN:273125", "NCIT:C40206", "UMLS:C1516423"]}
{"category": ["biolink:Disease"], "description": "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.", "id": "MONDO:0006141", "name": "Cervical villoglandular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical adenocarcinoma, villoglandular variant", "cervical villoglandular adenocarcinoma", "cervical villoglandular carcinoma", "villoglandular variant cervical mucinous adenocarcinoma"], "xref": ["DOID:8338", "GARD:0024308", "MEDGEN:927340", "NCIT:C40208", "ONCOTREE:VGCE", "UMLS:C4289808"]}
{"category": ["biolink:Disease"], "description": "A small cell carcinoma arising from the cervix.", "id": "MONDO:0006142", "name": "Cervical small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cervical small cell cancer", "cervical small cell carcinoma", "cervix small cell carcinoma", "cervix uteri small cell carcinoma", "small cell carcinoma of cervix", "small cell carcinoma of cervix uteri", "small cell carcinoma of the cervix", "small cell carcinoma of the cervix uteri", "small cell carcinoma of the uterine cervix", "small cell carcinoma of uterine cervix", "uterine cervix small cell carcinoma"], "xref": ["DOID:6740", "EFO:1000171", "GARD:0024309", "MEDGEN:79025", "NCIT:C7982", "ONCOTREE:SCCE", "UMLS:C0279674"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.", "id": "MONDO:0006143", "name": "Cervical squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cervical squamous cell cancer", "cervical squamous cell carcinoma", "cervix squamous cell carcinoma", "cervix uteri squamous cell carcinoma", "squamous cell carcinoma of cervix", "squamous cell carcinoma of cervix uteri", "squamous cell carcinoma of the cervix", "squamous cell carcinoma of the cervix uteri", "squamous cell carcinoma of the uterine cervix", "squamous cell carcinoma of uterine cervix", "squamous cervical cancer", "uterine cervix squamous cell carcinoma"], "xref": ["DOID:3744", "EFO:1000172", "GARD:0020487", "MEDGEN:124644", "NCIT:C4028", "ONCOTREE:CESC", "Orphanet:213767", "SCTID:254886006", "UMLS:C0279671", "icd11.foundation:1544785014"]}
{"category": ["biolink:Disease"], "description": "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.", "id": "MONDO:0006144", "name": "Cervical wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cervical Wilms tumor", "cervical Wilms' tumour"], "xref": ["DOID:5190", "GARD:0027743", "MEDGEN:273129", "NCIT:C40236", "UMLS:C1516437"]}
{"category": ["biolink:Disease"], "description": "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.", "id": "MONDO:0006145", "name": "Chondroid chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chondroid chordoma", "chondroid chordoma (morphologic abnormality)"], "xref": ["DOID:4152", "EFO:1000174", "GARD:0024310", "ICDO:9371/3", "MEDGEN:224768", "NCIT:C6902", "UMLS:C1266173"]}
{"category": ["biolink:Disease"], "description": "A hamartoma that is characterized by the presence of chondroid elements.", "id": "MONDO:0006146", "name": "Chondroid hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000175", "MEDGEN:313028", "NCIT:C42589", "UMLS:C1707390"]}
{"category": ["biolink:Disease"], "description": "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.", "id": "MONDO:0006149", "name": "Clear cell papillary cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["clear cell papillary cystadenoma"], "xref": ["EFO:1000181", "ICDO:8443/0", "MEDGEN:361270", "NCIT:C65203", "UMLS:C1880102"]}
{"category": ["biolink:Disease"], "description": "A rare Burkitt lymphoma that arises from the colon.", "id": "MONDO:0006150", "name": "Colon burkitt lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Burkitt lymphoma of colon", "Burkitts lymphoma of colon", "colon Burkitt lymphoma", "colon Burkitt's lymphoma", "colon Burkitts lymphoma", "primary colon Burkitt's lymphoma"], "xref": ["GARD:0024311", "MEDGEN:272491", "NCIT:C27465", "UMLS:C1333083"]}
{"category": ["biolink:Disease"], "description": "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.", "id": "MONDO:0006151", "name": "Colon dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colonic dysplasia", "dysplasia of colon", "dysplasia of the colon"], "xref": ["EFO:1000183", "MEDGEN:224903", "NCIT:C4847", "SCTID:308870004", "UMLS:C1302363"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.", "id": "MONDO:0006152", "name": "Colon inflammatory polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colonic inflammatory polyp", "inflammatory polyp of colon", "inflammatory polyp of the colon"], "xref": ["EFO:1000184", "MEDGEN:78627", "NCIT:C5517", "UMLS:C0267392"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.", "id": "MONDO:0006153", "name": "Colon juvenile polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon retention polyp", "colonic juvenile polyp", "colonic retention polyp", "juvenile polyp of colon", "juvenile polyp of the colon", "retention polyp of colon", "retention polyp of the colon"], "xref": ["EFO:1000185", "MEDGEN:234160", "NCIT:C5518", "UMLS:C1333090"]}
{"category": ["biolink:Disease"], "description": "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.", "id": "MONDO:0006154", "name": "Colon mucosa-associated lymphoid tissue lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MALT lymphoma of colon", "MALT lymphoma of the colon", "MALToma of colon", "MALToma of the colon", "colon MALT lymphoma", "colon MALToma", "colonic MALT lymphoma", "colonic MALToma", "colonic mucosa-associated lymphoid tissue lymphoma"], "xref": ["EFO:1000186", "GARD:0024312", "MEDGEN:272492", "NCIT:C5498", "UMLS:C1333096"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006155", "name": "Colon neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor of colon", "carcinoid tumor of the colon", "carcinoid tumour of colon", "carcinoid tumour of the colon", "colon NET G1", "colon carcinoid tumor", "colon carcinoid tumor (disease)", "colon carcinoid tumour", "colon carcinoid tumour (disease)", "colon neuroendocrine neoplasm G1", "colon neuroendocrine tumor G1", "colon neuroendocrine tumor, well differentiated, low grade", "colonic carcinoid tumor", "colonic carcinoid tumour", "grade 1 neuroendocrine neoplasm of colon"], "xref": ["EFO:1000188", "GARD:0024313", "MEDGEN:234158", "NCIT:C5497", "UMLS:C1333084"]}
{"category": ["biolink:Disease"], "description": "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.", "id": "MONDO:0006156", "name": "Colon sessile serrated adenoma/polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon SSA", "colon SSA/P", "colon SSP", "colon sessile serrated adenoma", "colon sessile serrated adenoma/polyp", "colon sessile serrated polyp"], "xref": ["EFO:1000189", "MEDGEN:474424", "NCIT:C96464", "UMLS:C3272791"]}
{"category": ["biolink:Disease"], "description": "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.", "id": "MONDO:0006157", "name": "Colorectal adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal (colon or rectal) adenosquamous cancer", "colorectal adenosquamous cancer", "colorectal adenosquamous carcinoma", "colorectum adenosquamous carcinoma"], "xref": ["EFO:1000190", "MEDGEN:317524", "NCIT:C43589", "UMLS:C1707437"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that arises from the colon or rectum.", "id": "MONDO:0006158", "name": "Colorectal diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["colorectal DLBCL", "colorectal diffuse large B-cell lymphoma", "colorectum diffuse large B-cell lymphoma", "diffuse large B-cell lymphoma of colorectum"], "xref": ["EFO:1000191", "GARD:0024314", "MEDGEN:474460", "NCIT:C96503", "UMLS:C3272827"]}
{"category": ["biolink:Disease"], "description": "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.", "id": "MONDO:0006159", "name": "Colorectal gastrointestinal stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal (colon or rectal) gastrointestinal stromal tumor (gist)", "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)", "colorectal gastrointestinal stromal tumor", "colorectal gastrointestinal stromal tumor (gist)", "colorectal gastrointestinal stromal tumour (gist)", "colorectal gist"], "xref": ["EFO:1000192", "MEDGEN:272496", "NCIT:C27735", "UMLS:C1333109"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.", "id": "MONDO:0006160", "name": "Colorectal hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal hamartoma", "colorectum hamartoma (disease)", "large intestinal hamartoma"], "xref": ["EFO:1000193", "MEDGEN:474434", "NCIT:C96474", "UMLS:C3272801"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.", "id": "MONDO:0006161", "name": "Colorectal juvenile polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal retention polyp", "juvenile polyp of large bowel", "juvenile polyp of the large bowel", "large bowel juvenile polyp", "large intestinal juvenile polyp"], "xref": ["EFO:1000194", "MEDGEN:235116", "NCIT:C5681", "UMLS:C1377708"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006162", "name": "Colorectal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["colorectal NET G1", "colorectal carcinoid tumor", "colorectal carcinoid tumour", "colorectal neuroendocrine tumor G1", "colorectum NET G1", "colorectum carcinoid tumor", "colorectum carcinoid tumour", "colorectum neuroendocrine neoplasm G1", "colorectum neuroendocrine tumor, well differentiated, low grade", "grade 1 neuroendocrine neoplasm of colorectum", "large intestinal neuroendocrine tumor G1", "large intestinal neuroendocrine tumour G1"], "xref": ["EFO:1000195", "GARD:0024315", "MEDGEN:474244", "NCIT:C96160", "UMLS:C3272611"]}
{"category": ["biolink:Disease"], "description": "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.", "id": "MONDO:0006163", "name": "Colorectal serrated adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal serrated adenocarcinoma"], "xref": ["EFO:1000196", "ICDO:8213/3", "MEDGEN:474442", "NCIT:C96485", "UMLS:C3272809"]}
{"category": ["biolink:Disease"], "description": "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.", "id": "MONDO:0006164", "name": "Colorectal sessile serrated adenoma/polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal SSA", "colorectal SSA/P", "colorectal SSP", "colorectal mixed hyperplastic adenomatous polyp", "colorectal mixed hyperplastic adenomatous polyp/serrated adenoma", "colorectal sessile serrated adenoma", "colorectal sessile serrated adenoma/polyp", "colorectal sessile serrated polyp"], "xref": ["EFO:1000197", "MEDGEN:415420", "NCIT:C83176", "UMLS:C2826783"]}
{"category": ["biolink:Disease"], "description": "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.", "id": "MONDO:0006165", "name": "Colorectal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal (colon or rectal) squamous cell cancer", "colorectal squamous cell cancer", "colorectal squamous cell carcinoma", "colorectum squamous cell carcinoma"], "xref": ["EFO:1000198", "MEDGEN:317527", "NCIT:C43588", "UMLS:C1707442"]}
{"category": ["biolink:Disease"], "description": "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.", "id": "MONDO:0006166", "name": "Columnar cell hyperplasia of the breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CCH", "columnar cell hyperplasia of breast"], "xref": ["EFO:1000199", "MEDGEN:310623", "NCIT:C54183", "UMLS:C1707446"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.", "id": "MONDO:0006167", "name": "Combined lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["combined carcinoma of lung", "combined carcinoma of the lung", "combined lung cancer", "combined lung carcinoma"], "xref": ["EFO:1000200", "GARD:0024316", "MEDGEN:234166", "NCIT:C7591", "UMLS:C1333123"]}
{"category": ["biolink:Disease"], "description": "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.", "id": "MONDO:0006169", "name": "Complex endometrial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000202", "ICD9:621.32", "MEDGEN:83889", "NCIT:C35423", "SCTID:198322002", "UMLS:C0349578"]}
{"category": ["biolink:Disease"], "description": "Any disorder of the conjunctiva.", "id": "MONDO:0006170", "name": "Conjunctival disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conjunctiva disease", "conjunctiva disease or disorder", "conjunctival disease", "conjunctival disorder", "disease of conjunctiva", "disease or disorder of conjunctiva", "disorder of conjunctiva"], "xref": ["DOID:4251", "EFO:1000203", "ICD10CM:H10-H11", "MEDGEN:3207", "NCIT:C27605", "UMLS:C0009759"]}
{"category": ["biolink:Disease"], "description": "A benign melanocytic neoplasm that arises from the conjunctiva.", "id": "MONDO:0006172", "name": "Conjunctival nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nevus of conjunctiva", "Nevus of the conjunctiva", "conjunctival nevus"], "xref": ["DOID:0050906", "EFO:1000205", "GARD:0024317", "MEDGEN:83422", "NCIT:C4551", "SCTID:255006004", "UMLS:C0346363"]}
{"category": ["biolink:Disease"], "description": "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.", "id": "MONDO:0006173", "name": "Conjunctival squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["conjunctiva epidermoid carcinoma", "conjunctiva squamous cell carcinoma", "conjunctival epidermoid carcinoma", "conjunctival squamous cell cancer", "conjunctival squamous cell carcinoma", "epidermoid carcinoma of conjunctiva", "epidermoid carcinoma of the conjunctiva", "squamous cell carcinoma of conjunctiva", "squamous cell carcinoma of the conjunctiva"], "xref": ["DOID:1748", "EFO:1000206", "GARD:0024318", "MEDGEN:87558", "NCIT:C4549", "SCTID:255003007", "UMLS:C0346359"]}
{"category": ["biolink:Disease"], "description": "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.", "id": "MONDO:0006174", "name": "Cortisol-producing adrenal cortex adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cortisol producing adrenal cortex adenoma", "cortisol producing adrenal cortical adenoma", "cortisol-producing adrenal cortex adenoma"], "xref": ["EFO:1000208", "GARD:0024319", "MEDGEN:353568", "NCIT:C48449", "UMLS:C1707525"]}
{"category": ["biolink:Disease"], "description": "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.", "id": "MONDO:0006176", "name": "Cribriform carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cribriform carcinoma"], "xref": ["EFO:1000210", "ICDO:8201/3", "MEDGEN:104694", "NCIT:C3680", "UMLS:C0205643"]}
{"category": ["biolink:Disease"], "description": "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.", "id": "MONDO:0006178", "name": "Dedifferentiated solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000214", "GARD:0024320", "MEDGEN:396654", "NCIT:C79948", "UMLS:C2699572"]}
{"category": ["biolink:Disease"], "description": "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.", "id": "MONDO:0006179", "name": "Desmoplastic ameloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["desmoplastic ameloblastoma"], "xref": ["EFO:1000215", "GARD:0024321", "MEDGEN:105345", "NCIT:C39758", "UMLS:C0457533"]}
{"category": ["biolink:Disease"], "description": "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.", "id": "MONDO:0006180", "name": "Digestive system adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["digestive system adenoma", "digestive tract adenoma", "gastrointestinal adenoma"], "xref": ["DOID:4147", "EFO:1000217", "MEDGEN:184920", "NCIT:C36207", "UMLS:C0948101"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.", "id": "MONDO:0006181", "name": "Digestive system carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of digestive system", "carcinoma of the gastrointestinal system", "digestive system carcinoma", "gastrointestinal carcinoma", "gastrointestinal carcinoma (disease)", "gastrointestinal system carcinoma"], "xref": ["DOID:0050922", "EFO:1000218", "HP:0002672", "MEDGEN:57467", "NCIT:C96963", "UMLS:C0151544"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.", "id": "MONDO:0006182", "name": "Digestive system mixed adenoneuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MANEC", "digestive system Mixed Adenoneuroendocrine cancer", "digestive system mixed adenoneuroendocrine carcinoma", "gastrointestinal MANEC", "gastrointestinal mixed Adenoneuroendocrine carcinoma", "mixed Adenoneuroendocrine carcinoma"], "xref": ["EFO:1000219", "ICDO:8244/3", "MEDGEN:459355", "NCIT:C95406", "UMLS:C2987129"]}
{"category": ["biolink:Disease"], "description": "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.", "id": "MONDO:0006183", "name": "Disseminated peritoneal leiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DPL", "LPD", "diffuse peritoneal leiomyomatosis", "disseminated peritoneal leiomyomatosis", "leiomyomatosis peritonealis disseminata", "leiomyomatosis peritonealis disseminate"], "xref": ["DOID:5728", "EFO:1000220", "GARD:0012843", "MEDGEN:78634", "NCIT:C3958", "Orphanet:71274", "SCTID:62557001", "UMLS:C0267785"]}
{"category": ["biolink:Disease"], "description": "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.", "id": "MONDO:0006184", "name": "Ductal breast carcinoma in situ and lobular carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DCIS and LCIS of breast", "DCIS and LCIS of the breast", "ductal and lobular breast carcinoma in situ", "ductal and lobular carcinoma in situ of breast", "ductal and lobular carcinoma in situ of the breast", "ductal carcinoma in situ with lobular carcinoma in situ of breast", "ductal carcinoma in situ with lobular carcinoma in situ of the breast", "intraductal and lobular breast carcinoma in situ", "intraductal and lobular carcinoma in situ of breast", "intraductal and lobular carcinoma in situ of the breast", "intraductal carcinoma and lobular carcinoma in situ", "non-infiltrating ductal and non-infiltrating lobular breast carcinoma", "non-infiltrating ductal with non-infiltrating lobular carcinoma of breast", "non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast", "non-invasive ductal and non-invasive lobular breast carcinoma", "non-invasive ductal and non-invasive lobular carcinoma", "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma", "non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast", "non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast", "non-invasive ductal with non-invasive lobular breast carcinoma"], "xref": ["EFO:1000221", "ICDO:8522/2", "MEDGEN:83137", "NCIT:C4195", "UMLS:C0334383"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the duodenum.", "id": "MONDO:0006186", "name": "Duodenal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of duodenum", "adenocarcinoma of the duodenum", "duodenal adenocarcinoma", "duodenum adenocarcinoma"], "xref": ["DOID:10816", "EFO:1000223", "GARD:0024322", "MEDGEN:82985", "NCIT:C7889", "ONCOTREE:DA", "SCTID:408644002", "UMLS:C0278804", "icd11.foundation:1182663077"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006187", "name": "Duodenal villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duodenal villous adenoma", "duodenum villous adenoma", "villous adenoma of duodenum", "villous adenoma of the duodenum", "villous adenoma, duodenum"], "xref": ["DOID:0050927", "EFO:1000225", "MEDGEN:232438", "NCIT:C5338", "UMLS:C1333322"]}
{"category": ["biolink:Disease"], "description": "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.", "id": "MONDO:0006188", "name": "Ebv-positive t-cell lymphoproliferative disorder of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EBV-positive T-cell lymphoproliferative disease of childhood", "EBV-positive T-cell lymphoproliferative disorder of childhood"], "xref": ["GARD:0024323", "MEDGEN:397515", "NCIT:C80373", "UMLS:C2699838"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.", "id": "MONDO:0006189", "name": "Eccrine porocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["eccrine porocarcinoma", "epidermotropic eccrine carcinoma", "malignant eccrine poroma", "porocarcinoma"], "xref": ["DOID:7566", "EFO:1000229", "GARD:0007431", "ICDO:8409/3", "MEDGEN:266098", "MESH:D057090", "NCIT:C5560", "ONCOTREE:POCA", "SCTID:254708001", "UMLS:C1266065"]}
{"category": ["biolink:Disease"], "description": "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.", "id": "MONDO:0006190", "name": "Endolymphatic sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ELST", "aggressive papillary tumor of the temporal bone", "aggressive papillary tumour of the temporal bone", "endolymphatic sac neoplasm", "endolymphatic sac neoplasm (disease)", "endolymphatic sac tumor", "endolymphatic sac tumor (disease)", "endolymphatic sac tumour (disease)", "neoplasm of endolymphatic sac", "tumor of endolymphatic sac", "tumour of endolymphatic sac"], "xref": ["EFO:1000230", "HP:0030393", "ICD9:212.0", "ICDO:8260/1", "MEDGEN:389657", "NCIT:C67560", "SCTID:699817008", "UMLS:C2348239"]}
{"category": ["biolink:Disease"], "description": "A clear cell adenocarcinoma that involves the endometrium.", "id": "MONDO:0006191", "name": "Endometrial clear cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["clear cell carcinoma of endometrium", "clear cell carcinoma of the endometrium", "endometrial clear cell adenocarcinoma", "endometrium clear cell adenocarcinoma"], "xref": ["DOID:5299", "EFO:1000231", "MEDGEN:124655", "NCIT:C8028", "UMLS:C0279765", "icd11.foundation:388735319"]}
{"category": ["biolink:Disease"], "description": "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.", "id": "MONDO:0006192", "name": "Endometrial endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial endometrioid adenocarcinoma", "endometrioid adenocarcinoma of endometrium", "endometrioid adenocarcinoma of the endometrium", "endometrioid carcinoma of endometrium", "endometrioid carcinoma of the endometrium", "endometrioid endomet. adenocar.", "endometrioid endometrial adenocarcinoma", "uterine corpus endometrioid adenocarcinoma", "uterine corpus endometrioid carcinoma"], "xref": ["EFO:1000233", "MEDGEN:234467", "NCIT:C6287", "ONCOTREE:UEC", "UMLS:C1336905", "icd11.foundation:671511103"]}
{"category": ["biolink:Disease"], "description": "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.", "id": "MONDO:0006193", "name": "Endometrial hyperplasia without atypia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["typical endometrial hyperplasia"], "xref": ["EFO:1000234", "ICD9:621.34", "MEDGEN:274011", "NCIT:C40157", "SCTID:134031000119108", "UMLS:C1516855"]}
{"category": ["biolink:Disease"], "description": "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.", "id": "MONDO:0006195", "name": "Endometrial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial polyp", "endometrial stromal polyp", "endometrium polyp", "polyp of endometrium", "polyp of the endometrium", "polyp, endometrial stromal, benign"], "xref": ["EFO:1000237", "MEDGEN:312370", "NCIT:C6433", "UMLS:C1704273"]}
{"category": ["biolink:Disease"], "description": "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.", "id": "MONDO:0006196", "name": "Endometrial serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["body of uterus serous adenocarcinoma", "endometrial serous adenocarcinoma", "serous endometrial adenocarcinoma", "uterine corpus serous adenocarcinoma", "uterine papillary serous carcinoma", "uterine serous papillary adenocarcinoma"], "xref": ["DOID:5750", "EFO:1000238", "MEDGEN:1659908", "NCIT:C27838", "ONCOTREE:USC", "UMLS:C0854924", "icd11.foundation:225222541"]}
{"category": ["biolink:Disease"], "description": "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.", "id": "MONDO:0006197", "name": "Endometrial small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endometrial small cell carcinoma", "endometrium small cell carcinoma", "small cell carcinoma of endometrium"], "xref": ["DOID:7139", "EFO:1000239", "GARD:0024324", "MEDGEN:309057", "NCIT:C40155", "UMLS:C1516858", "icd11.foundation:845680139"]}
{"category": ["biolink:Disease"], "description": "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.", "id": "MONDO:0006198", "name": "Endometrial squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial squamous cell carcinoma", "endometrium squamous cell carcinoma", "squamous cell carcinoma of endometrium", "squamous cell carcinoma of the endometrium"], "xref": ["DOID:5533", "EFO:1000240", "MEDGEN:234217", "NCIT:C8719", "UMLS:C1333396", "icd11.foundation:1130568776"]}
{"category": ["biolink:Disease"], "description": "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.", "id": "MONDO:0006199", "name": "Endometrial undifferentiated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial undifferentiated carcinoma", "undifferentiated endometrial carcinoma"], "xref": ["EFO:1000242", "MEDGEN:274013", "NCIT:C40156", "UMLS:C1516865", "icd11.foundation:130578959"]}
{"category": ["biolink:Disease"], "description": "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.", "id": "MONDO:0006200", "name": "Epithelioid cell uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epithelioid cell melanoma of uvea", "epithelioid cell uveal melanoma", "uvea epithelioid cell melanoma", "uveal epithelioid cell melanoma"], "xref": ["DOID:7040", "EFO:1000244", "GARD:0024325", "MEDGEN:234223", "NCIT:C35780", "UMLS:C1333422"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that affects the ethmoid sinus.", "id": "MONDO:0006201", "name": "Ethmoid sinus adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of the ethmoid sinus"], "xref": ["DOID:2764", "EFO:1000246", "GARD:0024326", "MEDGEN:232471", "NCIT:C6238", "UMLS:C1333473"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.", "id": "MONDO:0006202", "name": "Extrahepatic bile duct adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extrahepatic bile duct adenosquamous carcinoma"], "xref": ["EFO:1000247", "GARD:0024327", "NCIT:C5778"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.", "id": "MONDO:0006203", "name": "Extrahepatic bile duct squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extrahepatic bile duct squamous cell carcinoma"], "xref": ["EFO:1000248", "GARD:0024328", "NCIT:C5777"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the fallopian tube.", "id": "MONDO:0006206", "name": "Fallopian tube carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of fallopian tube", "carcinoma of the fallopian tube", "fallopian tube carcinoma"], "xref": ["DOID:1963", "EFO:1000251", "GARD:0024329", "MEDGEN:66762", "NCIT:C3867", "SCTID:276870001", "UMLS:C0238122"]}
{"category": ["biolink:Disease"], "description": "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.", "id": "MONDO:0006207", "name": "Fallopian tube carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fallopian tube carcinosarcoma", "fallopian tube malignant mixed Mullerian tumour", "fallopian tube malignant mixed mesodermal (Müllerian) tumor", "fallopian tube malignant mixed mesodermal (Müllerian) tumour", "fallopian tube malignant mixed mesodermal (mullerian) tumor", "fallopian tube malignant mixed mesodermal (mullerian) tumour"], "xref": ["DOID:1970", "EFO:1000252", "GARD:0024330", "MEDGEN:273294", "NCIT:C40124", "UMLS:C1517117"]}
{"category": ["biolink:Disease"], "description": "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.", "id": "MONDO:0006208", "name": "Fallopian tube serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fallopian tube serous adenocarcinoma"], "xref": ["DOID:5598", "EFO:1000253", "GARD:0024331", "MEDGEN:274490", "NCIT:C40099", "UMLS:C1517124"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.", "id": "MONDO:0006209", "name": "Fibroblastic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroblastic neoplasm", "fibroblastic tumor", "fibroblastic tumour", "fibrocytic neoplasm", "fibrocytic tumor", "fibrocytic tumour", "fibrogenic neoplasm", "fibrogenicTumor", "fibrous neoplasm", "fibrous tumor", "fibrous tumour"], "xref": ["EFO:1000255", "MEDGEN:60198", "NCIT:C7075", "UMLS:C0206643"]}
{"category": ["biolink:Disease"], "description": "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.", "id": "MONDO:0006210", "name": "Fibrolamellar hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHCC", "FLC", "fibrolamellar cancer", "fibrolamellar carcinoma", "fibrolamellar carcinoma of liver cells", "fibrolamellar carcinoma of the liver cells", "fibrolamellar hepatocarcinoma", "fibrolamellar hepatocellular carcinoma", "hepatocellular carcinoma, fibrolamellar", "hepatocellular fibrolamellar carcinoma", "liver cell fibrolamellar carcinoma", "oncocytic hepatocellular tumor", "oncocytic hepatocellular tumour", "polygonal cell type hepatocellular carcinoma with fibrous Stroma"], "xref": ["DOID:5015", "EFO:1000256", "GARD:0021704", "ICDO:8171/3", "MEDGEN:83122", "MESH:C537258", "NCIT:C4131", "ONCOTREE:FLC", "Orphanet:401920", "SCTID:253018005", "UMLS:C0334287"]}
{"category": ["biolink:Disease"], "description": "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.", "id": "MONDO:0006211", "name": "Fibrous hamartoma of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibrous hamartoma", "fibrous hamartoma of infancy", "infantile fibrous hamartoma"], "xref": ["EFO:1000257", "ICD9:215.9", "MEDGEN:120562", "NCIT:C3942", "SCTID:56364004", "UMLS:C0265979", "icd11.foundation:1496992098"]}
{"category": ["biolink:Disease"], "description": "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003", "id": "MONDO:0006212", "name": "Flat urothelial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["flat urothelial hyperplasia"], "xref": ["EFO:1000259", "MEDGEN:272633", "NCIT:C27878", "UMLS:C1333621"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.", "id": "MONDO:0006213", "name": "Floor of mouth mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mouth floor mucoepidermoid carcinoma", "mucoepidermoid carcinoma of floor of mouth", "mucoepidermoid carcinoma of the floor of mouth"], "xref": ["EFO:1000260", "GARD:0024332", "MEDGEN:124718", "NCIT:C8178", "UMLS:C0280310"]}
{"category": ["biolink:Disease"], "description": "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.", "id": "MONDO:0006214", "name": "Follicular variant thyroid gland papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["FVPTC"], "xref": ["EFO:1000261", "MEDGEN:811427", "NCIT:C126594", "UMLS:C3714651"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from glandular epithelial cells of the gall bladder.", "id": "MONDO:0006215", "name": "Gallbladder adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of gallbladder", "adenocarcinoma of the gallbladder", "gall bladder adenocarcinoma", "gallbladder adenocarcinoma"], "xref": ["DOID:3500", "EFO:1000262", "GARD:0024333", "MEDGEN:76009", "NCIT:C9166", "UMLS:C0279651", "icd11.foundation:15874829"]}
{"category": ["biolink:Disease"], "description": "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.", "id": "MONDO:0006216", "name": "Gallbladder adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of gallbladder", "adenoma of the gallbladder", "gall bladder adenoma", "gallbladder adenoma"], "xref": ["DOID:0050893", "EFO:1000263", "MEDGEN:116046", "NCIT:C7720", "UMLS:C0238137", "icd11.foundation:1229475359"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.", "id": "MONDO:0006217", "name": "Gallbladder adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenosquamous carcinoma of gallbladder", "adenosquamous carcinoma of the gallbladder", "adenosquamous gallbladder carcinoma", "gall bladder adenosquamous carcinoma", "gallbladder adenosquamous cancer", "gallbladder adenosquamous carcinoma"], "xref": ["DOID:5627", "EFO:1000264", "GARD:0024334", "MEDGEN:232539", "NCIT:C7356", "ONCOTREE:GBASC", "UMLS:C1333741"]}
{"category": ["biolink:Disease"], "description": "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.", "id": "MONDO:0006218", "name": "Gallbladder biliary intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gallbladder BilIN", "gallbladder biliary intraepithelial neoplasia", "gallbladder dysplasia", "gallbladder intraepithelial neoplasia", "intracystic BilIN", "intracystic biliary intraepithelial neoplasia"], "xref": ["EFO:1000265", "MEDGEN:317714", "NCIT:C43606", "UMLS:C1708174"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.", "id": "MONDO:0006219", "name": "Gallbladder small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Oat cell carcinoma of gallbladder", "Oat cell carcinoma of the gallbladder", "gall bladder small cell carcinoma", "gallbladder Oat cell carcinoma", "gallbladder small cell NEC", "gallbladder small cell carcinoma", "gallbladder small cell neuroendocrine carcinoma", "small cell carcinoma of gall bladder", "small cell carcinoma of gallbladder", "small cell carcinoma of the gallbladder"], "xref": ["DOID:7133", "EFO:1000266", "GARD:0024335", "MEDGEN:232229", "NCIT:C6763", "UMLS:C1333759"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.", "id": "MONDO:0006220", "name": "Gallbladder squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of gallbladder", "epidermoid carcinoma of the gallbladder", "epidermoid gallbladder carcinoma", "gall bladder squamous cell carcinoma", "gallbladder squamous cell cancer", "gallbladder squamous cell carcinoma", "squamous cell carcinoma of gallbladder", "squamous cell carcinoma of the gallbladder", "squamous cell gallbladder carcinoma"], "xref": ["DOID:5535", "EFO:1000267", "GARD:0024336", "MEDGEN:83539", "NCIT:C9170", "UMLS:C0279658"]}
{"category": ["biolink:Disease"], "description": "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.", "id": "MONDO:0006221", "name": "Gastric adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of stomach", "adenoma of the stomach", "gastric adenoma", "stomach adenoma"], "xref": ["EFO:1000268", "MEDGEN:56204", "NCIT:C7699", "UMLS:C0149826"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.", "id": "MONDO:0006222", "name": "Gastric choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric choriocarcinoma"], "xref": ["EFO:1000269", "GARD:0024337", "MEDGEN:459624", "NCIT:C95749", "UMLS:C2987398"]}
{"category": ["biolink:Disease"], "description": "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.", "id": "MONDO:0006223", "name": "Gastric diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric diffuse large B-cell lymphoma", "primary diffuse large B-cell gastric lymphoma", "primary diffuse large B-cell lymphoma of stomach", "primary diffuse large B-cell lymphoma of the stomach", "primary gastric diffuse large B-cell lymphoma"], "xref": ["EFO:1000270", "GARD:0024338", "MEDGEN:277530", "NCIT:C5253", "UMLS:C1335483"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.", "id": "MONDO:0006224", "name": "Gastric hamartomatous polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastric hamartomatous polyp", "hamartoma of stomach", "hamartoma of the stomach", "stomach hamartoma (disease)"], "xref": ["EFO:1000271", "MEDGEN:90961", "NCIT:C4373", "SCTID:235685007", "UMLS:C0341225"]}
{"category": ["biolink:Disease"], "description": "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.", "id": "MONDO:0006225", "name": "Gastric mantle cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric mantle cell lymphoma", "mantle cell lymphoma of stomach", "mantle cell lymphoma of the stomach", "stomach mantle cell lymphoma"], "xref": ["EFO:1000272", "GARD:0024339", "MEDGEN:234300", "NCIT:C27440", "UMLS:C1333780"]}
{"category": ["biolink:Disease"], "description": "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.", "id": "MONDO:0006226", "name": "Gastric mucosa-associated lymphoid tissue lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MALT lymphoma of stomach", "MALT lymphoma of the stomach", "MALToma of stomach", "MALToma of the stomach", "gastric MALT lymphoma", "gastric MALToma", "gastric mucosa-associated lymphoid tissue lymphoma", "primary MALT lymphoma of stomach", "primary MALT lymphoma of the stomach", "primary gastric B-cell MALT lymphoma", "primary gastric MALT lymphoma", "stomach MALT lymphoma"], "xref": ["EFO:1000274", "GARD:0024340", "MEDGEN:232547", "NCIT:C5266", "UMLS:C1333782"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.", "id": "MONDO:0006227", "name": "Gastric neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric ECL cell NET", "gastric ECL cell NET G1", "gastric ECL cell, histamine-producing NET", "gastric ECL-cell carcinoid tumor", "gastric ECL-cell carcinoid tumour", "gastric NET G1", "gastric carcinoid tumor", "gastric carcinoid tumour", "gastric enterochromaffin-like cell carcinoid tumor", "gastric enterochromaffin-like cell carcinoid tumour", "gastric enterochromaffin-like cell neuroendocrine tumor", "gastric enterochromaffin-like cell neuroendocrine tumour", "grade 1 neuroendocrine neoplasm of stomach", "stomach NET G1", "stomach carcinoid tumor", "stomach carcinoid tumour", "stomach neuroendocrine neoplasm G1", "stomach neuroendocrine tumor, well differentiated, low grade"], "xref": ["EFO:1000275", "GARD:0024341", "MEDGEN:83885", "NCIT:C4635", "UMLS:C0349529"]}
{"category": ["biolink:Disease"], "description": "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.", "id": "MONDO:0006228", "name": "Gastric papillary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric papillary adenocarcinoma", "papillary adenocarcinoma of stomach", "papillary adenocarcinoma of the stomach", "stomach papillary adenocarcinoma"], "xref": ["DOID:5593", "EFO:1000276", "GARD:0027744", "MEDGEN:232550", "NCIT:C5472", "ONCOTREE:PSTAD", "UMLS:C1333785"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.", "id": "MONDO:0006229", "name": "Gastric small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Oat cell carcinoma of stomach", "Oat cell carcinoma of the stomach", "gastric Oat cell carcinoma", "gastric small cell carcinoma", "gastric small cell neuroendocrine carcinoma", "small cell carcinoma of stomach", "small cell carcinoma of the stomach", "stomach small cell carcinoma"], "xref": ["DOID:6552", "EFO:1000277", "GARD:0024342", "MEDGEN:272664", "NCIT:C6764", "ONCOTREE:STSC", "UMLS:C1333788"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.", "id": "MONDO:0006230", "name": "Gastric squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["gastric (stomach) squamous cell cancer", "gastric squamous cell carcinoma", "squamous cell carcinoma of stomach", "squamous cell carcinoma of the stomach", "stomach squamous cell carcinoma"], "xref": ["DOID:5516", "EFO:1000278", "GARD:0021743", "MEDGEN:234302", "NCIT:C5475", "Orphanet:418959", "SCTID:766980008", "UMLS:C1333789"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.", "id": "MONDO:0006231", "name": "Gastrointestinal hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastrointestinal hamartoma"], "xref": ["EFO:1000280", "MEDGEN:474435", "NCIT:C96475", "UMLS:C3272802"]}
{"category": ["biolink:Disease"], "description": "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.", "id": "MONDO:0006232", "name": "Giant cell tumor of soft tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GCT-ST", "Osteoclastoma of soft tissue", "giant cell tumor of soft tissue"], "xref": ["EFO:1000281", "ICDO:9251/1", "MEDGEN:87264", "NCIT:C49107", "UMLS:C0334553"]}
{"category": ["biolink:Disease"], "description": "A teratoma that arises from the testis or ovary.", "id": "MONDO:0006233", "name": "Gonadal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gonadal teratoma", "teratoma, gonads"], "xref": ["EFO:1000282", "GARD:0024343", "MEDGEN:475575", "NCIT:C98291", "UMLS:C3273942"]}
{"category": ["biolink:Disease"], "description": "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.", "id": "MONDO:0006234", "name": "Grade iii prostatic intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PIN III", "adenocarcinoma in situ of prostate", "adenocarcinoma in situ of the prostate", "carcinoma in situ of prostate", "carcinoma in situ of prostate gland", "grade 3 pin", "grade 3 prostatic intraepithelial neoplasia", "grade III pin", "pin III", "prostate adenocarcinoma in situ", "prostate carcinoma in situ", "prostate gland carcinoma in situ", "prostate gland in situ carcinoma", "stage 0 prostate gland carcinoma"], "xref": ["DOID:8634", "EFO:1000283", "ICD10CM:D07.5", "ICD9:233.4", "MEDGEN:1684800", "NCIT:C3642", "SCTID:92691004", "UMLS:C5200982"]}
{"category": ["biolink:Disease"], "description": "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.", "id": "MONDO:0006235", "name": "Granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Abrikossoff tumor", "Abrikossoff tumour", "Abrikossoff's tumor", "Abrikossoff's tumour", "granular cell myoblastoma", "granular cell neoplasm", "granular cell nerve sheath tumor", "granular cell nerve sheath tumour", "granular cell schwannoma", "granular cell tumor", "granular cell tumor (morphologic abnormality)", "granular cell tumour (morphologic abnormality)"], "xref": ["DOID:2411", "EFO:1000284", "GARD:0009618", "ICD9:215.9", "ICDO:9580/0", "MEDGEN:88345", "MESH:C535558", "MESH:D016586", "NCIT:C3474", "ONCOTREE:GCT", "SCTID:404035005", "UMLS:C0085167"]}
{"category": ["biolink:Disease"], "description": "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)", "id": "MONDO:0006237", "name": "Granulocytic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["granulocytic sarcoma", "sarcoma, granulocytic, malignant"], "xref": ["EFO:1000286", "GARD:0024344", "MEDGEN:56275", "NCIT:C35815", "UMLS:C0152276"]}
{"category": ["biolink:Disease"], "description": "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.", "id": "MONDO:0006238", "name": "Growth hormone-producing pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GH cell adenoma", "Somatotrophinoma", "growth hormone producing adenoma of pituitary", "growth hormone producing adenoma of pituitary gland", "growth hormone producing adenoma of the pituitary gland", "growth hormone producing pituitary adenoma", "growth hormone producing pituitary gland adenoma", "growth hormone secreting adenoma of pituitary", "growth hormone secreting adenoma of pituitary gland", "growth hormone secreting adenoma of the pituitary", "growth hormone secreting adenoma of the pituitary gland", "growth hormone secreting pituitary gland adenoma", "growth hormone-producing adenoma", "growth hormone-producing pituitary gland adenoma", "somatotrope adenoma"], "xref": ["DOID:6255", "EFO:1000287", "GARD:0016850", "MEDGEN:82999", "NANDO:1200385", "NANDO:1200386", "NCIT:C7461", "Orphanet:96256", "SCTID:254957009", "UMLS:C0278864"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.", "id": "MONDO:0006239", "name": "Head and neck paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["craniocervical region paraganglioma", "head and neck paraganglioma", "paraganglioma of craniocervical region", "paraganglioma of head and neck", "paraganglioma of the head and neck"], "xref": ["EFO:1000288", "GARD:0024345", "MEDGEN:232588", "NCIT:C5327", "UMLS:C1333944"]}
{"category": ["biolink:Disease"], "description": "A granuloma located in the liver.", "id": "MONDO:0006241", "name": "Hepatic granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000291", "ICD9:572.8", "MEDGEN:155428", "SCTID:714253009", "UMLS:C0745754"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.", "id": "MONDO:0006243", "name": "Hepatoid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hepatoid adenocarcinoma", "hepatoid carcinoma"], "xref": ["DOID:0060534", "EFO:1000293", "ICDO:8576/3", "MEDGEN:220413", "NCIT:C66950", "UMLS:C1266090"]}
{"category": ["biolink:Disease"], "description": "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).", "id": "MONDO:0006244", "name": "Her2 positive breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ERBB2 Overexpressing subtype of breast carcinoma", "HER2 Overexpressing breast carcinoma", "HER2 Overexpressing subtype of breast carcinoma", "HER2 Positive breast cancer", "HER2 positive breast carcinoma", "Her2-receptor positive breast cancer"], "xref": ["DOID:0060079", "EFO:1000294", "MEDGEN:743175", "NCIT:C53556", "SCTID:427685000", "UMLS:C1960398"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.", "id": "MONDO:0006245", "name": "Hidradenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["clear cell eccrine carcinoma", "hidradenocarcinoma"], "xref": ["EFO:1000295", "ICDO:8402/3", "MEDGEN:137746", "NCIT:C54664", "UMLS:C0334344"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.", "id": "MONDO:0006246", "name": "High grade surface osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["high grade surface osteosarcoma"], "xref": ["EFO:1000296", "GARD:0024346", "ICDO:9194/3", "MEDGEN:220428", "NCIT:C53958", "ONCOTREE:HGSOS", "UMLS:C1266165"]}
{"category": ["biolink:Disease"], "description": "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)", "id": "MONDO:0006247", "name": "Histiocytic and dendritic cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["histiocytic and Dendritic cell neoplasms", "histiocytic and Dendritic cell tumors", "histiocytic and Dendritic cell tumours", "histiocytic and dendritic cell neoplasm"], "xref": ["DOID:5621", "EFO:1000297", "GARD:0019441", "MEDGEN:714988", "NCIT:C9294", "Orphanet:98287", "UMLS:C1292762"]}
{"category": ["biolink:Disease"], "description": "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.", "id": "MONDO:0006248", "name": "Hydatidiform mole", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hydatid mole", "hydatidiform mole", "molar pregnancy"], "xref": ["EFO:1000298", "GARD:0010263", "ICD10WHO:O01", "ICD9:631", "ICDO:9100/0", "MEDGEN:9329", "MESH:D006828", "MedDRA:10020481", "NCIT:C3110", "OMIMPS:231090", "ONCOTREE:MP", "Orphanet:99927", "SCTID:44782008", "UMLS:C0020217", "icd11.foundation:946166369"]}
{"category": ["biolink:Disease"], "description": "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).", "id": "MONDO:0006249", "name": "Hyperplastic polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["HP", "MP", "metaplastic polyp"], "xref": ["EFO:1000299", "MEDGEN:87189", "NCIT:C4083", "UMLS:C0333983"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006250", "name": "Ileal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor of ileum", "carcinoid tumor of the ileum", "carcinoid tumour of ileum", "carcinoid tumour of the ileum", "grade 1 neuroendocrine neoplasm of ileum", "ileal NET G1", "ileal carcinoid tumor", "ileal carcinoid tumour", "ileal neuroendocrine tumor G1", "ileum NET G1", "ileum carcinoid tumor", "ileum carcinoid tumor (disease)", "ileum carcinoid tumour", "ileum carcinoid tumour (disease)", "ileum neuroendocrine neoplasm G1", "ileum neuroendocrine tumor, well differentiated, low grade"], "xref": ["EFO:1000300", "GARD:0024347", "ICD9:209.03", "MEDGEN:155426", "NCIT:C4935", "SCTID:425318003", "UMLS:C0745216"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.", "id": "MONDO:0006254", "name": "Intestinal type adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestinal type carcinoma", "intestinal-type adenocarcinoma"], "xref": ["EFO:1000304", "ICDO:8144/3", "MEDGEN:87206", "NCIT:C4126", "UMLS:C0334279"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.", "id": "MONDO:0006255", "name": "Intimal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000305", "GARD:0024348", "MEDGEN:317791", "NCIT:C53677", "ONCOTREE:INTS", "UMLS:C1708550"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.", "id": "MONDO:0006256", "name": "Invasive breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infiltrating breast cancer", "infiltrating breast carcinoma", "infiltrating carcinoma of breast", "infiltrating carcinoma of the breast", "invasive breast cancer", "invasive breast carcinoma", "invasive carcinoma of breast", "invasive carcinoma of the breast", "invasive mammary carcinoma"], "xref": ["EFO:1000307", "MEDGEN:163435", "NCIT:C9245", "ONCOTREE:BRCA", "SCTID:713609000", "UMLS:C0853879", "icd11.foundation:2090549892"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0006257", "name": "Jejunal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor of jejunum", "carcinoid tumor of the jejunum", "carcinoid tumour of jejunum", "carcinoid tumour of the jejunum", "grade 1 neuroendocrine neoplasm of jejunum", "jejunal NET G1", "jejunal carcinoid tumor", "jejunal carcinoid tumour", "jejunum NET G1", "jejunum carcinoid tumor", "jejunum carcinoid tumor (disease)", "jejunum carcinoid tumour", "jejunum carcinoid tumour (disease)", "jejunum neuroendocrine neoplasm G1", "jejunum neuroendocrine tumor, well differentiated, low grade"], "xref": ["EFO:1000308", "GARD:0024349", "MEDGEN:235235", "NCIT:C6429", "UMLS:C1334296"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.", "id": "MONDO:0006258", "name": "Juvenile polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["juvenile polyp", "retention polyp"], "xref": ["EFO:1000310", "MEDGEN:113158", "NCIT:C3826", "UMLS:C0221273"]}
{"category": ["biolink:Disease"], "description": "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.", "id": "MONDO:0006260", "name": "Kidney medullary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Renal Medullary Carcinoma", "carcinoma of renal medulla", "kidney medullary carcinoma", "renal medulla carcinoma", "renal medullary carcinoma"], "xref": ["DOID:0070475", "EFO:1000314", "GARD:0013175", "MEDGEN:888108", "MedDRA:10064886", "NCIT:C7572", "NORD:1999", "ONCOTREE:MRC", "Orphanet:319319", "UMLS:C4049328"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the lacrimal gland.", "id": "MONDO:0006262", "name": "Lacrimal gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of lacrimal gland", "adenoid cystic carcinoma of the lacrimal gland", "lacrimal gland adenoid cystic carcinoma"], "xref": ["DOID:4870", "EFO:1000317", "GARD:0024350", "MEDGEN:87555", "NCIT:C4540", "SCTID:254987003", "UMLS:C0346340"]}
{"category": ["biolink:Disease"], "description": "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.", "id": "MONDO:0006264", "name": "Laryngeal adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of larynx", "adenoid cystic carcinoma of the larynx", "laryngeal adenoid cystic carcinoma", "laryngeal throat adenoid cystic cancer"], "xref": ["DOID:4869", "EFO:1000319", "GARD:0024351", "MEDGEN:232690", "NCIT:C9462", "UMLS:C1334368"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.", "id": "MONDO:0006265", "name": "Laryngeal small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["laryngeal small cell carcinoma", "laryngeal throat small cell cancer", "larynx small cell carcinoma", "small cell carcinoma of larynx", "small cell carcinoma of the larynx"], "xref": ["DOID:7144", "EFO:1000320", "GARD:0024352", "MEDGEN:233611", "NCIT:C6025", "UMLS:C1334378"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.", "id": "MONDO:0006266", "name": "Leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Leydig cell neoplasm", "Leydig cell tumor", "interstitial cell neoplasm", "interstitial cell tumor", "interstitial cell tumour"], "xref": ["DOID:2696", "EFO:1000321", "ICDO:8650/1", "MEDGEN:9747", "MESH:D007984", "NCIT:C3188", "UMLS:C0023601"]}
{"category": ["biolink:Disease"], "description": "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.", "id": "MONDO:0006267", "name": "Liver cavernous hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cavernous hemangioma of liver", "liver cavernous hemangioma"], "xref": ["GARD:0024353", "MEDGEN:482990", "NCIT:C96839", "UMLS:C3282904"]}
{"category": ["biolink:Disease"], "description": "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.", "id": "MONDO:0006268", "name": "Liver diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diffuse large B-cell lymphoma of liver", "hepatic diffuse large B-cell lymphoma", "liver diffuse large B-cell lymphoma", "primary hepatic diffuse large B-cell lymphoma", "primary liver diffuse large B-cell lymphoma"], "xref": ["EFO:1000323", "GARD:0024354", "MEDGEN:473542", "NCIT:C96843", "UMLS:C2184126"]}
{"category": ["biolink:Disease"], "description": "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.", "id": "MONDO:0006270", "name": "Lobular breast carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LCIS", "lobular Ca in situ of breast", "lobular Ca in situ of the breast", "lobular breast carcinoma in situ", "lobular carcinoma in situ", "lobular carcinoma in situ (LCIS)", "lobular carcinoma in situ of breast", "lobular carcinoma in situ of the breast", "lobular carcinoma in situ of the breast (LCIS)", "non-infiltrating lobular breast carcinoma", "non-infiltrating lobular carcinoma", "non-infiltrating lobular carcinoma of breast", "non-infiltrating lobular carcinoma of the breast", "non-invasive lobular breast carcinoma", "non-invasive lobular carcinoma of breast", "non-invasive lobular carcinoma of the breast"], "xref": ["EFO:1000326", "ICD10CM:D05.0", "ICDO:8520/2", "MEDGEN:79007", "NCIT:C4018", "ONCOTREE:LCIS", "SCTID:109888004", "UMLS:C0279563"]}
{"category": ["biolink:Disease"], "description": "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.", "id": "MONDO:0006271", "name": "Low grade central osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraosseous well-differentiated osteogenic sarcoma", "intraosseous well-differentiated osteosarcoma", "low grade central osteosarcoma", "low grade intramedullary osteosarcoma", "low-grade intramedullary osteosarcoma"], "xref": ["ICDO:9187/3", "MEDGEN:818980", "NCIT:C6474", "ONCOTREE:LGCOS", "UMLS:C3814534"]}
{"category": ["biolink:Disease"], "description": "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.", "id": "MONDO:0006272", "name": "Low grade fibromyxoid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["low grade fibromyxoid sarcoma"], "xref": ["GARD:0024355", "ICD9:171.9", "MEDGEN:224814", "NCIT:C45202", "ONCOTREE:LGFMS", "SCTID:404088004", "UMLS:C1275282"]}
{"category": ["biolink:Disease"], "description": "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.", "id": "MONDO:0006273", "name": "Low grade fibromyxoid sarcoma with giant collagen rosettes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hyalinizing spindle cell tumor with giant Rosettes", "hyalinizing spindle cell tumour with giant Rosettes"], "xref": ["EFO:1000329", "GARD:0024356", "MEDGEN:310942", "NCIT:C45203", "UMLS:C1708749"]}
{"category": ["biolink:Disease"], "description": "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)", "id": "MONDO:0006274", "name": "Low grade vulvar intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["VIN 1", "VIN 1 of usual type", "VIN grade 1", "grade 1 VIN", "grade 1 vulvar intraepithelial neoplasia", "grade I VIN", "grade I vulvar intraepithelial neoplasia", "intraepithelial neoplasia of the vulva grade 1", "intraepithelial neoplasia of vulva grade 1", "low grade VIN", "vulva intraepithelial neoplasia grade 1", "vulvar Low grade squamous intraepithelial lesion", "vulvar Low-grade squamous intraepithelial lesion", "vulvar flat condyloma", "vulvar intraepithelial neoplasia 1 of usual type", "vulvar intraepithelial neoplasia grade 1", "vulvar mild squamous dysplasia"], "xref": ["EFO:1000330", "GARD:0024357", "MEDGEN:99217", "NCIT:C4760", "UMLS:C0495106"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.", "id": "MONDO:0006275", "name": "Lung giant cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["giant cell carcinoma of lung", "giant cell carcinoma of the lung", "lung giant cell carcinoma"], "xref": ["DOID:5583", "EFO:1000332", "ICD9:162.9", "MEDGEN:83392", "MESH:D018286", "NCIT:C4452", "ONCOTREE:GCLC", "SCTID:254631008", "UMLS:C0345960"]}
{"category": ["biolink:Disease"], "description": "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.", "id": "MONDO:0006276", "name": "Lung inflammatory myofibroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["lung inflammatory myofibroblastic tumor"], "xref": ["EFO:1000333", "GARD:0024358", "ICDO:8827/1", "MEDGEN:273512", "NCIT:C39740", "ONCOTREE:IMTL", "UMLS:C1518038"]}
{"category": ["biolink:Disease"], "description": "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.", "id": "MONDO:0006277", "name": "Lung lymphangioleiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lung lymphangioleiomyomatosis", "lung lymphangiomyomatosis"], "xref": ["DOID:3319", "EFO:1000334", "GARD:0003319", "ICD9:518.89", "MEDGEN:91161", "MedDRA:10049459", "NCIT:C38153", "ONCOTREE:LAM", "Orphanet:538", "SCTID:277844007", "UMLS:C0349649"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.", "id": "MONDO:0006278", "name": "Lung papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lung papilloma", "papilloma of respiratory tract", "papilloma of the respiratory tract", "respiratory tract papilloma"], "xref": ["EFO:1000335", "MEDGEN:1709750", "NCIT:C8295", "UMLS:C5397991"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.", "id": "MONDO:0006279", "name": "Lung sarcomatoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lung sarcomatoid carcinoma"], "xref": ["DOID:0080777", "EFO:1000336", "ICD9:162.9", "MEDGEN:353871", "NCIT:C45540", "ONCOTREE:SARCL", "SCTID:707460002", "UMLS:C1708781"]}
{"category": ["biolink:Disease"], "description": "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.", "id": "MONDO:0006280", "name": "Lung sclerosing hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pneumocytoma", "lung sclerosing angioma", "lung sclerosing hemangioma", "sclerosing Pneumocytoma", "sclerosing angioma of lung", "sclerosing angioma of the lung", "sclerosing hemangioma of lung", "sclerosing hemangioma of the lung"], "xref": ["DOID:495", "DOID:5766", "EFO:1000337", "ICD9:228.09", "MEDGEN:734262", "MESH:D047868", "NCIT:C5656", "SCTID:707365008", "UMLS:C1509148"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.", "id": "MONDO:0006281", "name": "Lung signet ring cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung signet ring cell carcinoma"], "xref": ["DOID:0080305", "EFO:1000338", "GARD:0024359", "ICD9:162.9", "MEDGEN:310950", "NCIT:C45514", "SCTID:707407001", "UMLS:C1708782"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.", "id": "MONDO:0006282", "name": "Lymphangiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphangioendothelial sarcoma", "lymphangiosarcoma", "lymphangiosarcoma, malignant", "malignant lymphangioendothelioma"], "xref": ["DOID:2689", "EFO:1000339", "GARD:0008706", "ICD9:171.9", "ICDO:9170/3", "MEDGEN:6154", "MESH:D008204", "NCIT:C3205", "SCTID:403986008", "UMLS:C0024224"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.", "id": "MONDO:0006283", "name": "Lymphoepithelioma-like lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000340", "MEDGEN:313374", "NCIT:C45519", "ONCOTREE:LECLC", "UMLS:C1708792"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.", "id": "MONDO:0006284", "name": "Major salivary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of Major salivary gland", "carcinoma of major salivary gland", "carcinoma of the major salivary gland", "major salivary gland carcinoma"], "xref": ["EFO:1000344", "GARD:0027745", "MEDGEN:235287", "NCIT:C5907", "UMLS:C1334549"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.", "id": "MONDO:0006285", "name": "Major salivary gland carcinoma ex pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma ex pleomorphic adenoma of Major salivary gland", "carcinoma ex pleomorphic adenoma of the Major salivary gland", "major salivary gland carcinoma ex pleomorphic adenoma", "major salivary gland salivary gland carcinoma ex pleomorphic adenoma"], "xref": ["EFO:1000345", "GARD:0027746", "MEDGEN:233655", "NCIT:C5975", "UMLS:C1334550"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.", "id": "MONDO:0006286", "name": "Major salivary gland mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["major salivary gland mucoepidermoid cancer", "major salivary gland mucoepidermoid carcinoma", "mucoepidermoid carcinoma of Major salivary gland", "mucoepidermoid carcinoma of the Major salivary gland"], "xref": ["EFO:1000346", "GARD:0024360", "MEDGEN:233139", "NCIT:C5906", "UMLS:C1334551"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).", "id": "MONDO:0006287", "name": "Malignancy in giant cell tumor of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Dedifferentiated giant cell tumor", "Dedifferentiated giant cell tumour", "OSTEOCLASTOMA, malignant", "bone giant cell sarcoma", "giant cell bone sarcoma", "giant cell sarcoma of bone", "giant cell sarcoma of the bone", "giant cell tumor of bone, malignant", "giant cell tumor of bone, malignant (morphologic abnormality)", "giant cell tumour of bone, malignant", "giant cell tumour of bone, malignant (morphologic abnormality)", "malignancy in giant cell tumor of bone", "malignancy in giant cell tumor of the bone", "malignancy in giant cell tumour of the bone", "malignant giant cell tumor of bone", "malignant giant cell tumour of bone"], "xref": ["DOID:4719", "EFO:1000347", "GARD:0024361", "ICDO:9250/3", "MEDGEN:87263", "NANDO:2200052", "NCIT:C4304", "UMLS:C0334552"]}
{"category": ["biolink:Disease"], "description": "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.", "id": "MONDO:0006288", "name": "Malignant adrenal gland pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland pheochromocytoma, malignant", "malignant adrenal gland Chromaffinoma", "malignant adrenal gland chromaffin neoplasm", "malignant adrenal gland chromaffin paraganglioma", "malignant adrenal gland chromaffin tumor", "malignant adrenal gland chromaffin tumour", "malignant adrenal gland paraganglioma", "malignant adrenal gland pheochromocytoma", "malignant adrenal medullary paraganglioma", "malignant adrenal medullary pheochromocytoma", "malignant adrenal pheochromocytoma", "malignant pheochromocytoma", "pheochromoblastoma", "pheochromocytoma, malignant"], "xref": ["DOID:0080347", "EFO:1000348", "GARD:0024362", "ICDO:8700/3", "MEDGEN:87238", "NCIT:C4220", "SCTID:21851000119103", "UMLS:C0334419"]}
{"category": ["biolink:Disease"], "description": "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.", "id": "MONDO:0006290", "name": "Malignant germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancer of germ cell", "germ cell cancer", "germ cell tumor, malignant", "malignant germ cell neoplasm", "malignant germ cell tumor", "malignant neoplasm of germ cell", "malignant neoplasm of the germ cell", "malignant tumor of germ cell", "malignant tumor of the germ cell", "malignant tumour of germ cell", "malignant tumour of the germ cell"], "xref": ["EFO:1000352", "GARD:0003360", "MEDGEN:890580", "NCIT:C4925", "SCTID:145831000119103", "UMLS:C4048549"]}
{"category": ["biolink:Disease"], "description": "A jugulotympanic paraganglioma that metastasizes to other anatomic sites.", "id": "MONDO:0006291", "name": "Malignant jugulotympanic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of jugular body", "jugular body cancer", "malignant glomus jugulare neoplasm", "malignant glomus jugulare tumor", "malignant glomus jugulare tumour", "malignant jugular body neoplasm", "malignant jugulotympanic paraganglioma", "malignant neoplasm of glomus jugulare", "malignant neoplasm of jugular body", "malignant neoplasm of the glomus jugulare", "malignant tumor of glomus jugulare", "malignant tumor of the glomus jugulare", "malignant tumour of glomus jugulare", "malignant tumour of the glomus jugulare"], "xref": ["GARD:0024363", "MEDGEN:87584", "NCIT:C4623", "UMLS:C0347856"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.", "id": "MONDO:0006292", "name": "Malignant mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["malignant mesothelial tumor", "malignant mesothelial tumour", "malignant mesothelioma", "malignant mesothelioma (disease)", "malignant neoplasm of mesothelium", "malignant neoplasm of the mesothelium", "malignant tumor of mesothelium", "malignant tumor of the mesothelium", "malignant tumour of mesothelium", "malignant tumour of the mesothelium", "mesothelioma, malignant", "mesothelioma, somatic"], "xref": ["DOID:1790", "EFO:1000355", "GARD:0007026", "HP:0100001", "ICD9:199.1", "ICDO:9050/3", "MEDGEN:91062", "MESH:C562839", "MedDRA:10027406", "NCIT:C4456", "OMIM:156240", "Orphanet:50251", "SCTID:109378008", "UMLS:C0345967", "icd11.foundation:369414280"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.", "id": "MONDO:0006294", "name": "Pleural cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of pleura", "cancer of the pleura", "malignant neoplasm of pleura", "malignant neoplasm of the pleura", "malignant pleura neoplasm", "malignant pleural neoplasm", "malignant pleural tumor", "malignant pleural tumour", "malignant tumor of pleura", "malignant tumor of the pleura", "malignant tumour of pleura", "malignant tumour of the pleura", "pleura cancer", "pleural cancer"], "xref": ["DOID:5158", "EFO:1000362", "ICD10CM:C38.4", "ICD9:163", "ICD9:163.8", "ICD9:163.9", "MEDGEN:56307", "NCIT:C3547", "SCTID:363433009", "UMLS:C0153494"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.", "id": "MONDO:0006295", "name": "Malignant urinary system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of renal system", "malignant neoplasm of renal system", "malignant renal system neoplasm", "malignant urinary system neoplasm", "malignant urinary tract neoplasm", "renal system cancer", "urinary system cancer"], "xref": ["DOID:3996", "EFO:1000363", "ICD10CM:C64-C68", "ICD9:189.9", "MEDGEN:738719", "NCIT:C192668", "NCIT:C9297", "SCTID:448233000", "UMLS:C1644719"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.", "id": "MONDO:0006297", "name": "Maxillary sinus adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of the maxillary sinus", "maxillary sinus adenoid cystic carcinoma"], "xref": ["DOID:7198", "EFO:1000365", "GARD:0024364", "MEDGEN:233168", "NCIT:C6239", "UMLS:C1334643"]}
{"category": ["biolink:Disease"], "description": "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.", "id": "MONDO:0006298", "name": "Mediastinal malignant germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant mediastinal germ cell tumor", "malignant mediastinal germ cell tumour", "mediastinal germ cell tumor, malignant", "mediastinal malignant germ cell tumor", "thymic malignant germ cell tumor", "thymic malignant germ cell tumour"], "xref": ["EFO:1000366", "GARD:0024365", "MEDGEN:277334", "NCIT:C6446", "SCTID:713293002", "UMLS:C1334597"]}
{"category": ["biolink:Disease"], "description": "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.", "id": "MONDO:0006300", "name": "Medullomyoblastoma with myogenic differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["medullomyoblastoma", "medullomyoblastoma with myogenic differentiation"], "xref": ["DOID:3861", "EFO:1000368", "GARD:0024366", "ICDO:9472/3", "MEDGEN:104731", "NCIT:C3706", "ONCOTREE:MMB", "UMLS:C0205833"]}
{"category": ["biolink:Disease"], "description": "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.", "id": "MONDO:0006301", "name": "Metanephric adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metanephric adenoma", "metanephric adenoma (morphologic abnormality)"], "xref": ["DOID:6404", "EFO:1000373", "ICDO:8191/0", "ICDO:8325/0", "MEDGEN:266093", "NCIT:C27253", "UMLS:C1266045"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.", "id": "MONDO:0006302", "name": "Micropapillary serous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000377", "MEDGEN:825423", "NCIT:C6882", "UMLS:C3839578"]}
{"category": ["biolink:Disease"], "description": "A rare squamous cell carcinoma that arises from the middle ear.", "id": "MONDO:0006303", "name": "Middle ear squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of middle Ear", "epidermoid carcinoma of the middle Ear", "epidermoid carcinoma of the middle ear", "middle Ear epidermoid carcinoma", "middle ear squamous cell carcinoma", "squamous cell carcinoma of middle Ear", "squamous cell carcinoma of the middle Ear"], "xref": ["DOID:5526", "EFO:1000378", "GARD:0024367", "MEDGEN:233191", "NCIT:C6086", "UMLS:C1334762"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the minor salivary glands.", "id": "MONDO:0006304", "name": "Minor salivary gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of minor salivary gland", "adenocarcinoma of the minor salivary gland"], "xref": ["EFO:1000379", "GARD:0027747", "MEDGEN:235328", "NCIT:C5948", "UMLS:C1334768"]}
{"category": ["biolink:Disease"], "description": "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.", "id": "MONDO:0006306", "name": "Mixed lobular and ductal breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ductal and lobular carcinoma", "mixed ductal and lobular breast carcinoma", "mixed ductal and lobular carcinoma of breast", "mixed ductal and lobular carcinoma of the breast", "mixed lobular and ductal breast carcinoma", "mixed lobular and ductal carcinoma", "mixed lobular and ductal carcinoma of breast", "mixed lobular and ductal carcinoma of the breast"], "xref": ["EFO:1000382", "ICD9:174.8", "MEDGEN:1779609", "NCIT:C5160", "ONCOTREE:MDLC", "SCTID:444604002", "UMLS:C5441546"]}
{"category": ["biolink:Disease"], "description": "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.", "id": "MONDO:0006307", "name": "Mixed somatotroph-lactotroph pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Mixed somatotroph and lactotroph adenoma", "mixed GH-PRL cell adenoma", "mixed Somatolactotrope adenoma", "mixed somatotroph-lactotroph adenoma", "mixed somatotroph-lactotroph pituitary gland adenoma"], "xref": ["EFO:1000383", "MEDGEN:353936", "NCIT:C45927", "UMLS:C1709052"]}
{"category": ["biolink:Disease"], "description": "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.", "id": "MONDO:0006309", "name": "Mucinous gastric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucinous adenocarcinoma of stomach", "mucinous adenocarcinoma of the stomach", "mucinous gastric adenocarcinoma", "mucinous stomach adenocarcinoma", "stomach mucinous adenocarcinoma"], "xref": ["DOID:3716", "EFO:1000386", "GARD:0027748", "MEDGEN:235338", "NCIT:C5248", "ONCOTREE:MSTAD", "UMLS:C1334809"]}
{"category": ["biolink:Disease"], "description": "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.", "id": "MONDO:0006311", "name": "Myelodysplastic/myeloproliferative neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MDS/MPN", "MPD-MDS", "MPD/MDS", "myelodysplastic/myeloproliferative neoplasm", "myelodysplastic/myeloproliferative neoplasms"], "xref": ["DOID:4972", "EFO:1000388", "GARD:0024368", "ICDO:9975/3", "MEDGEN:226981", "NCIT:C27262", "ONCOTREE:MDS%2FMPN", "SCTID:445738007", "UMLS:C1301355"]}
{"category": ["biolink:Disease"], "description": "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.", "id": "MONDO:0006312", "name": "Myofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myofibroma", "myofibroma (morphologic abnormality)"], "xref": ["DOID:4386", "EFO:1000389", "ICDO:8824/0", "MEDGEN:220420", "MESH:D047708", "NCIT:C7052", "ONCOTREE:MF", "UMLS:C1266121"]}
{"category": ["biolink:Disease"], "description": "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.", "id": "MONDO:0006313", "name": "Nabothian cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000390", "MEDGEN:6510", "NCIT:C34835", "SCTID:24565001", "UMLS:C0027269", "Wikipedia:Nabothian_cyst", "icd11.foundation:1329172977"]}
{"category": ["biolink:Disease"], "description": "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.", "id": "MONDO:0006314", "name": "Nasal cavity polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nasal cavity polyp", "nasal polyp", "polyp of nasal cavity", "polyp of the nasal cavity"], "xref": ["EFO:1000391", "ICD10CM:J33.0", "ICD9:471.0", "ICD9:471.9", "MEDGEN:6524", "MESH:D009298", "NCIT:C3256", "SCTID:52756005", "UMLS:C0027430"]}
{"category": ["biolink:Disease"], "description": "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.", "id": "MONDO:0006316", "name": "Neuroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neuroblastic tumor"], "xref": ["EFO:1000393", "MEDGEN:233228", "NCIT:C6963", "UMLS:C1334953"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.", "id": "MONDO:0006317", "name": "Neurothekeoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nerve sheath Myxoma", "neurothekeoma"], "xref": ["EFO:1000394", "GARD:0024369", "ICDO:9562/0", "MEDGEN:64641", "MESH:D018321", "NCIT:C7018", "UMLS:C0206730"]}
{"category": ["biolink:Disease"], "description": "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)", "id": "MONDO:0006320", "name": "Non-cutaneous melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["extracutaneous melanoma", "non-cutaneous melanoma"], "xref": ["EFO:1000397", "MEDGEN:233761", "NCIT:C8711", "UMLS:C1334974"]}
{"category": ["biolink:Disease"], "description": "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.", "id": "MONDO:0006321", "name": "Non-functioning adrenal cortex adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal cortex non-functioning endocrine neoplasm", "adrenal cortical incidentaloma", "non-functioning adrenal cortex adenoma", "non-functioning adrenal cortical adenoma", "non-functioning endocrine neoplasm of adrenal cortex", "nonfunctional adrenal cortex adenoma"], "xref": ["EFO:1000399", "GARD:0024370", "MEDGEN:313501", "NCIT:C48458", "UMLS:C1709240"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.", "id": "MONDO:0006322", "name": "Non-neoplastic bile duct disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-neoplastic bile duct disorder"], "xref": ["EFO:1000400", "MEDGEN:476793", "NCIT:C35774", "UMLS:C3275160"]}
{"category": ["biolink:Disease"], "description": "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.", "id": "MONDO:0006323", "name": "Non-seminomatous lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:233785", "UMLS:C1335059"]}
{"category": ["biolink:Disease"], "description": "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.", "id": "MONDO:0006324", "name": "Normal breast-like subtype of breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["normal breast-like subtype of breast cancer", "normal breast-like subtype of breast carcinoma"], "xref": ["EFO:1000402", "MEDGEN:771111", "NCIT:C53557", "UMLS:C3642471"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from the structures of the eye or ocular adnexa.", "id": "MONDO:0006325", "name": "Ocular melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["eye melanoma", "eye melanoma (disease)", "eyeball of camera-type eye melanoma", "eyeball of camera-type eye melanoma (disease)", "melanoma (disease) of eyeball of camera-type eye", "melanoma of eye", "melanoma of the eye", "ocular melanoma"], "xref": ["DOID:1752", "EFO:1000403", "GARD:0007236", "MEDGEN:107846", "NCIT:C8562", "ONCOTREE:OM", "UMLS:C0558356"]}
{"category": ["biolink:Disease"], "description": "A melanoma arising from and extending beyond the structures of the eye.", "id": "MONDO:0006326", "name": "Ocular melanoma with extraocular extension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extraocular extension melanoma", "extraocular extension of melanoma", "ocular melanoma with extraocular extension"], "xref": ["GARD:0027351", "MEDGEN:75884", "NCIT:C7913", "UMLS:C0278869"]}
{"category": ["biolink:Disease"], "description": "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.", "id": "MONDO:0006327", "name": "Ocular sebaceous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eye sebaceous carcinoma", "ocular sebaceous carcinoma"], "xref": ["EFO:1000405", "MEDGEN:317974", "NCIT:C43340", "UMLS:C1709308"]}
{"category": ["biolink:Disease"], "description": "A cyst in the jaw that arises from tissues of tooth development.", "id": "MONDO:0006328", "name": "Odontogenic cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000406", "ICD9:526.89", "MEDGEN:14461", "MESH:D009807", "NCIT:C54220", "SCTID:235110008", "UMLS:C0028879", "Wikipedia:Odontogenic_cyst"]}
{"category": ["biolink:Disease"], "description": "An olfactory neuroblastoma arising in the paranasal sinus.", "id": "MONDO:0006329", "name": "Olfactory neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Asthesioneuroblastoma", "Asthesioneuroblastoma (morphologic abnormality)", "olfactory esthesioneuroblastoma", "olfactory neuroblastoma", "olfactory neuroepithelioma"], "xref": ["DOID:369", "EFO:1000407", "GARD:0024371", "ICDO:9522/3", "ICDO:9523/3", "NCIT:C3789", "ONCOTREE:ONBL", "icd11.foundation:2007774165"]}
{"category": ["biolink:Disease"], "description": "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.", "id": "MONDO:0006330", "name": "Ossifying fibromyxoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["OFMT", "ossifying fibromyxoid neoplasm", "ossifying fibromyxoid tumor (morphologic abnormality)", "ossifying fibromyxoid tumour (morphologic abnormality)", "ossifying fibromyxoma"], "xref": ["DOID:2685", "EFO:1000408", "ICDO:8842/0", "MEDGEN:226846", "NCIT:C6582", "ONCOTREE:OFMT", "SCTID:404076001", "UMLS:C1266128"]}
{"category": ["biolink:Disease"], "description": "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.", "id": "MONDO:0006335", "name": "Ovarian endometrioid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["endometrioid adenocarcinoma of ovary", "endometrioid adenocarcinoma of the ovary", "endometrioid cancer of ovary", "endometrioid cancer of the ovary", "endometrioid carcinoma of ovary", "endometrioid carcinoma of the ovary", "endometrioid ovary carcinoma", "endometrium adenocarcinoma of ovary", "ovarian endometrioid adenocarcinoma", "ovarian endometrioid cancer", "ovarian endometrioid carcinoma", "ovary endometrium adenocarcinoma"], "xref": ["DOID:5828", "EFO:1000416", "GARD:0021893", "MEDGEN:91087", "NCIT:C7979", "ONCOTREE:EOV", "Orphanet:454723", "SCTID:254852002", "UMLS:C0346163"]}
{"category": ["biolink:Disease"], "description": "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.", "id": "MONDO:0006336", "name": "Ovarian endometrioid adenocarcinoma with squamous differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian adenoacanthoma", "ovarian adenosquamous carcinoma", "ovarian endometrioid adenocarcinoma with squamous differentiation"], "xref": ["EFO:1000417", "GARD:0024372", "MEDGEN:389178", "NCIT:C40061", "UMLS:C2212017"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.", "id": "MONDO:0006337", "name": "Ovarian endometriosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometriosis (disease) of ovary", "endometriosis of ovary", "ovarian endometriosis", "ovary endometriosis (disease)"], "xref": ["DOID:11432", "EFO:1000418", "ICD10CM:N80.1", "ICD9:617.1", "MEDGEN:102350", "NCIT:C27628", "SCTID:266589005", "UMLS:C0156344"]}
{"category": ["biolink:Disease"], "description": "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.", "id": "MONDO:0006339", "name": "Ovarian microcystic stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCST", "microcystic stromal tumor", "microcystic stromal tumour"], "xref": ["EFO:1000424", "GARD:0022304", "MEDGEN:889995", "NCIT:C121953", "Orphanet:569248", "UMLS:C4054287"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.", "id": "MONDO:0006340", "name": "Ovarian serous adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ovarian serous adenofibroma", "ovary serous adenofibroma", "serous adenofibroma of ovary"], "xref": ["DOID:5474", "EFO:1000428", "MEDGEN:309514", "NCIT:C40031", "UMLS:C1518729"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.", "id": "MONDO:0006343", "name": "Ovarian transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ovarian transitional cell cancer", "ovarian transitional cell carcinoma", "ovary transitional cell carcinoma", "transitional cell carcinoma of ovary", "transitional cell carcinoma of the ovary"], "xref": ["DOID:4000", "EFO:1000435", "GARD:0024373", "MEDGEN:233811", "NCIT:C5240", "UMLS:C1335184"]}
{"category": ["biolink:Disease"], "description": "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.", "id": "MONDO:0006344", "name": "Ovarian yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endodermal sinus neoplasm of ovary", "endodermal sinus neoplasm of the ovary", "endodermal sinus tumor of ovary", "endodermal sinus tumor of the ovary", "endodermal sinus tumour of the ovary", "germ cell endodermal sinus neoplasm of ovary", "germ cell endodermal sinus neoplasm of the ovary", "germ cell endodermal sinus tumor of ovary", "germ cell endodermal sinus tumor of the ovary", "germ cell endodermal sinus tumour of ovary", "germ cell endodermal sinus tumour of the ovary", "ovarian endodermal sinus neoplasm", "ovarian endodermal sinus tumor", "ovarian germ cell endodermal sinus neoplasm", "ovarian germ cell endodermal sinus tumor", "ovarian germ cell endodermal sinus tumour", "ovarian yolk Sac neoplasm", "ovarian yolk sac tumor", "ovary yolk sac tumor", "ovary yolk sac tumour", "yolk Sac neoplasm of ovary", "yolk Sac neoplasm of the ovary", "yolk Sac tumor of ovary", "yolk Sac tumor of the ovary", "yolk Sac tumour of ovary", "yolk Sac tumour of the ovary"], "xref": ["DOID:5350", "EFO:1000437", "GARD:0024374", "MEDGEN:83415", "NCIT:C8107", "ONCOTREE:OYST", "SCTID:254876005", "UMLS:C0346188"]}
{"category": ["biolink:Disease"], "description": "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.", "id": "MONDO:0006345", "name": "Palmar fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Dupuytren contracture", "Dupuytren contracture (disease)", "palmar fibromatosis", "palmar part of manus fibromatosis"], "xref": ["EFO:1000438", "HP:0005679", "MEDGEN:903450", "MESH:D004387", "NCIT:C3469", "SCTID:203045001", "UMLS:C4085370", "icd11.foundation:160345690"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.", "id": "MONDO:0006346", "name": "Pancreatic acinar cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pancreatic acinar cell cancer", "acinar cell adenocarcinoma of pancreas", "acinar cell adenocarcinoma of the pancreas", "acinar cell carcinoma of pancreas", "acinar cell carcinoma of the pancreas", "carcinoma of pancreatic acinar cell", "pancreas acinar cell adenocarcinoma", "pancreatic acinar cell adenocarcinoma", "pancreatic acinar cell carcinoma"], "xref": ["DOID:5742", "EFO:1000439", "GARD:0021777", "MEDGEN:83540", "NCIT:C7977", "ONCOTREE:PAAC", "Orphanet:424046", "UMLS:C0279661", "icd11.foundation:449785448"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.", "id": "MONDO:0006347", "name": "Pancreatic large cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["large cell neuroendocrine carcinoma of pancreas", "pancreas large cell neuroendocrine carcinoma", "pancreatic large cell NEC", "pancreatic large cell NEC G3", "pancreatic large cell neuroendocrine carcinoma"], "xref": ["EFO:1000442", "GARD:0024376", "MEDGEN:459465", "NCIT:C95582", "UMLS:C2987239"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.", "id": "MONDO:0006348", "name": "Pancreatic small cell neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endocrine pancreas small cell carcinoma", "pancreatic small cell NEC", "pancreatic small cell NEC G3", "pancreatic small cell neuroendocrine carcinoma", "small cell carcinoma of endocrine pancreas"], "xref": ["EFO:1000444", "GARD:0024377", "MEDGEN:459466", "NCIT:C95583", "UMLS:C2987240"]}
{"category": ["biolink:Disease"], "description": "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.", "id": "MONDO:0006349", "name": "Papillary cystic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary cystic neoplasm", "papillary cystic tumor", "papillary cystic tumour"], "xref": ["EFO:1000448", "MEDGEN:137749", "NCIT:C4179", "UMLS:C0334357"]}
{"category": ["biolink:Disease"], "description": "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.", "id": "MONDO:0006350", "name": "Papillary transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["papillary transitional carcinoma", "papillary transitional cell carcinoma (morphologic abnormality)"], "xref": ["DOID:4012", "EFO:1000450", "GARD:0024378", "ICDO:8130/3", "MEDGEN:137736", "NCIT:C4122", "UMLS:C0334274"]}
{"category": ["biolink:Disease"], "description": "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.", "id": "MONDO:0006351", "name": "Parachordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["parachordoma"], "xref": ["DOID:2647", "EFO:1000452", "ICDO:9373/0", "ICDO:9373/1", "MEDGEN:266108", "NCIT:C6581", "SCTID:404086000", "UMLS:C1266175"]}
{"category": ["biolink:Disease"], "description": "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.", "id": "MONDO:0006352", "name": "Paranasal sinus adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["accessory sinus adenoid cystic carcinoma", "adenoid cystic carcinoma of accessory sinus", "adenoid cystic carcinoma of paranasal sinus", "adenoid cystic carcinoma of the accessory sinus", "adenoid cystic carcinoma of the paranasal sinus", "paranasal sinus adenoid cystic carcinoma"], "xref": ["GARD:0024379", "MEDGEN:233840", "NCIT:C6019", "UMLS:C1335337"]}
{"category": ["biolink:Disease"], "description": "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.", "id": "MONDO:0006353", "name": "Paranasal sinus schneiderian papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paranasal sinus Schneiderian papilloma"], "xref": ["GARD:0024380", "MEDGEN:235462", "NCIT:C6835", "UMLS:C1335343"]}
{"category": ["biolink:Disease"], "description": "A hyperplasia that involves the parathyroid gland.", "id": "MONDO:0006354", "name": "Parathyroid hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperplasia of parathyroid", "hyperplasia of the parathyroid", "parathyroid gland hyperplasia", "parathyroid hyperplasia", "parathyroid hyperplasia (disease)"], "xref": ["EFO:1000457", "HP:0008208", "MEDGEN:75767", "NCIT:C3989", "SCTID:9092004", "UMLS:C0271844"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.", "id": "MONDO:0006355", "name": "Parotid gland acinic cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["parotid gland acinar cell carcinoma", "parotid gland acinic cell carcinoma"], "xref": ["EFO:1000458", "GARD:0027749", "MEDGEN:277501", "NCIT:C5933", "UMLS:C1335353"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.", "id": "MONDO:0006356", "name": "Parotid gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of parotid", "adenoid cystic carcinoma of parotid gland", "adenoid cystic carcinoma of the parotid", "adenoid cystic carcinoma of the parotid gland", "parotid adenoid cystic carcinoma", "parotid gland adenoid cystic carcinoma"], "xref": ["DOID:0050931", "EFO:1000459", "GARD:0024381", "MEDGEN:277502", "NCIT:C5937", "SCTID:423615009", "UMLS:C1335355"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.", "id": "MONDO:0006357", "name": "Parotid gland carcinoma ex pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma ex pleomorphic adenoma of parotid", "carcinoma ex pleomorphic adenoma of parotid gland", "carcinoma ex pleomorphic adenoma of the parotid", "carcinoma ex pleomorphic adenoma of the parotid gland", "parotid carcinoma ex pleomorphic adenoma", "parotid gland carcinoma ex pleomorphic adenoma"], "xref": ["EFO:1000461", "GARD:0027750", "MEDGEN:233311", "NCIT:C5974", "SCTID:425127006", "UMLS:C1335356"]}
{"category": ["biolink:Disease"], "description": "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.", "id": "MONDO:0006358", "name": "Parotid gland squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["parotid gland squamous cell carcinoma", "parotid squamous cell carcinoma", "squamous cell carcinoma of parotid", "squamous cell carcinoma of parotid gland", "squamous cell carcinoma of the parotid", "squamous cell carcinoma of the parotid gland"], "xref": ["EFO:1000463", "GARD:0024382", "MEDGEN:233317", "NCIT:C5942", "UMLS:C1335367", "icd11.foundation:552798341"]}
{"category": ["biolink:Disease"], "description": "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.", "id": "MONDO:0006359", "name": "Neoplasm with perivascular epithelioid cell differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEComa", "neoplasm with perivascular epithelioid cell differentiation", "perivascular epithelioid cell neoplasm", "perivascular epithelioid cell tumour", "tumor with perivascular epithelioid cell differentiation", "tumour with perivascular epithelioid cell differentiation"], "xref": ["DOID:2643", "EFO:1000464", "GARD:0022383", "MEDGEN:266246", "MESH:D054973", "NCIT:C38150", "ONCOTREE:PECOMA", "Orphanet:595133", "UMLS:C1300127"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the penis", "id": "MONDO:0006360", "name": "Penile carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of penis", "carcinoma of the penis", "penile carcinoma", "penis carcinoma"], "xref": ["DOID:3449", "EFO:1000465", "GARD:0024383", "MEDGEN:208877", "NCIT:C9061", "SCTID:372106005", "UMLS:C0853105"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesothelial neoplasm that arises from the peritoneum.", "id": "MONDO:0006362", "name": "Peritoneal mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesothelioma of peritoneum", "mesothelioma of the peritoneum", "peritoneal mesothelioma", "peritoneal mesothelioma (disease)", "peritoneum mesothelioma"], "xref": ["EFO:1000467", "HP:0100003", "ICD10CM:C45.1", "MEDGEN:237171", "NCIT:C7633", "ONCOTREE:PEMESO", "SCTID:109853004", "UMLS:C1377610"]}
{"category": ["biolink:Disease"], "description": "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.", "id": "MONDO:0006363", "name": "Peritoneal multicystic mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["multicystic mesothelioma", "multicystic mesothelioma of peritoneum", "multicystic mesothelioma of the peritoneum", "multilocular peritoneal inclusion cyst", "peritoneal cystic mesothelioma", "peritoneal multicystic mesothelioma"], "xref": ["EFO:1000468", "GARD:0010777", "MEDGEN:233198", "NCIT:C6536", "Orphanet:168816", "SCTID:716650003", "UMLS:C1334818"]}
{"category": ["biolink:Disease"], "description": "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.", "id": "MONDO:0006364", "name": "Peritoneal well differentiated papillary mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["peritoneal WDPM", "peritoneal well differentiated papillary mesothelioma"], "xref": ["EFO:1000469", "MEDGEN:318015", "NCIT:C45661", "Orphanet:676033", "UMLS:C1709507"]}
{"category": ["biolink:Disease"], "description": "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002", "id": "MONDO:0006365", "name": "Peutz-jeghers polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Peutz Jeghers polyp", "Peutz-Jeghers polyp"], "xref": ["EFO:1000470", "MEDGEN:141582", "NCIT:C4733", "UMLS:C0456487"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.", "id": "MONDO:0006366", "name": "Peutz-jeghers polyp of the stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Gastric Peutz-Jeghers polyp"], "xref": ["MEDGEN:233323", "NCIT:C36205", "UMLS:C1335398"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that arises from the pharynx.", "id": "MONDO:0006367", "name": "Pharyngeal adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of pharynx", "adenoid cystic carcinoma of the pharynx", "pharyngeal adenoid cystic carcinoma", "pharyngeal throat adenoid cystic cancer", "pharynx adenoid cystic carcinoma"], "xref": ["GARD:0024384", "MEDGEN:233324", "NCIT:C5818", "UMLS:C1335399"]}
{"category": ["biolink:Disease"], "description": "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.", "id": "MONDO:0006368", "name": "Phosphaturic mesenchymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["phosphaturic mesenchymal tumor", "phosphaturic mesenchymal tumor, mixed connective tissue type"], "xref": ["EFO:1000473", "MEDGEN:371179", "NCIT:C67237", "UMLS:C1831619"]}
{"category": ["biolink:Disease"], "description": "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)", "id": "MONDO:0006369", "name": "Pineal parenchymal tumor of intermediate differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pineal parenchymal tumor of intermediate differentiation", "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)", "pineal parenchymal tumour of intermediate differentiation (morphologic abnormality)"], "xref": ["DOID:5030", "EFO:1000474", "GARD:0010644", "MEDGEN:234566", "NCIT:C6967", "ONCOTREE:PPTID", "Orphanet:251919", "SCTID:715904005", "UMLS:C1367859"]}
{"category": ["biolink:Disease"], "description": "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.", "id": "MONDO:0006372", "name": "Pituicytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pituicytoma", "pituicytoma (WHO grade I)", "posterior pituitary astrocytoma"], "xref": ["DOID:0081280", "EFO:1000477", "GARD:0020711", "ICD9:237.0", "ICDO:9432/1", "MEDGEN:458776", "NCIT:C94524", "ONCOTREE:PTCY", "Orphanet:251623", "SCTID:608817003", "UMLS:C2986550"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.", "id": "MONDO:0006373", "name": "Pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["adenoma of pituitary", "adenoma of pituitary gland", "adenoma of the pituitary", "adenoma of the pituitary gland", "adenoma, anterior lobe pituitary gland, benign", "pituitary adenoma", "pituitary gland adenoma"], "xref": ["DOID:3829", "EFO:1000478", "GARD:0019680", "ICDO:8272/0", "MEDGEN:45933", "MedDRA:10035079", "NANDO:2200095", "NCIT:C3329", "ONCOTREE:PTAD", "Orphanet:99408", "SCTID:254956000", "UMLS:C0032000"]}
{"category": ["biolink:Disease"], "description": "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.", "id": "MONDO:0006374", "name": "Placental choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["choriocarcinoma of the placenta", "placenta choriocarcinoma (disease)", "placental choriocarcinoma"], "xref": ["DOID:2024", "EFO:1000479", "GARD:0024385", "MEDGEN:167782", "NCIT:C8893", "SCTID:448401007", "UMLS:C0855173"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the fetal blood vessels in the placental villi.", "id": "MONDO:0006375", "name": "Placental hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Chorangioma", "chorioangioma", "hemangioma of placenta", "placenta hemangioma", "placental hemangioma"], "xref": ["DOID:277", "EFO:1000480", "ICD9:219.8", "MEDGEN:195606", "NCIT:C4868", "SCTID:237268002", "UMLS:C0677608", "icd11.foundation:588453442"]}
{"category": ["biolink:Disease"], "description": "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.", "id": "MONDO:0006377", "name": "Pleural biphasic mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pleural biphasic mesothelioma"], "xref": ["EFO:1000483", "GARD:0024386", "MEDGEN:311130", "NCIT:C45665", "UMLS:C1709570"]}
{"category": ["biolink:Disease"], "description": "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.", "id": "MONDO:0006378", "name": "Pleural epithelioid mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant epithelioid mesothelioma of pleura", "pleura malignant epithelioid mesothelioma", "pleural epithelioid mesothelioma"], "xref": ["EFO:1000484", "GARD:0024387", "MEDGEN:318031", "NCIT:C45662", "UMLS:C1709574"]}
{"category": ["biolink:Disease"], "description": "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.", "id": "MONDO:0006380", "name": "Pleural sarcomatoid mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pleura sarcomatoid mesothelioma", "pleural sarcomatoid mesothelioma", "sarcomatoid mesothelioma of pleura"], "xref": ["EFO:1000486", "GARD:0024388", "MEDGEN:354059", "NCIT:C45663", "UMLS:C1709578"]}
{"category": ["biolink:Disease"], "description": "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.", "id": "MONDO:0006381", "name": "Plexiform ameloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000487", "GARD:0024389", "MEDGEN:96838", "NCIT:C39753", "UMLS:C0457529"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)", "id": "MONDO:0006382", "name": "Poorly differentiated thyroid gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["insular carcinoma", "poorly differentiated carcinoma of the thyroid gland", "poorly differentiated carcinoma of thyroid gland", "poorly differentiated thyroid carcinoma", "poorly differentiated thyroid gland cancer", "poorly differentiated thyroid gland carcinoma", "thyroid gland poorly differentiated carcinoma"], "xref": ["DOID:3972", "EFO:1000489", "ICDO:8337/3", "MEDGEN:266094", "NCIT:C6040", "ONCOTREE:THPD", "UMLS:C1266050", "icd11.foundation:1227619262"]}
{"category": ["biolink:Disease"], "description": "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.", "id": "MONDO:0006383", "name": "Primary cutaneous diffuse large b-cell lymphoma, leg type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCDLBCL,LT", "primary cutaneous diffuse large B-cell lymphoma, Leg type"], "xref": ["EFO:1000490", "GARD:0020160", "ICDO:9680/3", "MEDGEN:311155", "NCIT:C45194", "Orphanet:178544", "UMLS:C1709656", "icd11.foundation:1418101362"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.", "id": "MONDO:0006385", "name": "Primary intraosseous squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["PIOSCC"], "xref": ["EFO:1000492", "GARD:0024390", "MEDGEN:313618", "NCIT:C54295", "UMLS:C1709663"]}
{"category": ["biolink:Disease"], "description": "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.", "id": "MONDO:0006386", "name": "Primary peritoneal serous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["primary peritoneal serous adenocarcinoma"], "xref": ["EFO:1000494", "GARD:0024391", "MEDGEN:269517", "NCIT:C40023", "UMLS:C1514429"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.", "id": "MONDO:0006387", "name": "Primary pulmonary diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diffuse large B-cell lymphoma of lung", "high grade MALT lymphoma of the lung", "lung diffuse large B-cell lymphoma", "primary pulmonary diffuse large B-cell lymphoma", "pulmonary diffuse large B-cell lymphoma"], "xref": ["EFO:1000495", "GARD:0024392", "MEDGEN:1789549", "NCIT:C45605", "UMLS:C2200138"]}
{"category": ["biolink:Disease"], "description": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.", "id": "MONDO:0006388", "name": "Prolactin-producing pituitary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PRL producing pituitary gland carcinoma", "malignant pituitary gland prolactinoma", "malignant pituitary prolactinoma", "malignant prolactin producing neoplasm of pituitary", "malignant prolactin producing neoplasm of pituitary gland", "malignant prolactin producing neoplasm of the pituitary", "malignant prolactin producing neoplasm of the pituitary gland", "malignant prolactin producing pituitary gland neoplasm", "malignant prolactin producing pituitary gland tumor", "malignant prolactin producing pituitary gland tumour", "malignant prolactin producing pituitary neoplasm", "malignant prolactin producing pituitary tumor", "malignant prolactin producing pituitary tumour", "malignant prolactin producing tumor", "malignant prolactin producing tumor of pituitary", "malignant prolactin producing tumor of pituitary gland", "malignant prolactin producing tumor of the pituitary", "malignant prolactin producing tumor of the pituitary gland", "malignant prolactin producing tumour", "malignant prolactin producing tumour of pituitary", "malignant prolactin producing tumour of pituitary gland", "malignant prolactin producing tumour of the pituitary", "malignant prolactin producing tumour of the pituitary gland", "malignant prolactin secreting neoplasm of pituitary", "malignant prolactin secreting neoplasm of pituitary gland", "malignant prolactin secreting neoplasm of the pituitary", "malignant prolactin secreting neoplasm of the pituitary gland", "malignant prolactin secreting pituitary gland neoplasm", "malignant prolactin secreting pituitary gland tumor", "malignant prolactin secreting pituitary gland tumour", "malignant prolactin secreting pituitary neoplasm", "malignant prolactin secreting pituitary tumor", "malignant prolactin secreting pituitary tumour", "malignant prolactin secreting tumor of pituitary", "malignant prolactin secreting tumor of pituitary gland", "malignant prolactin secreting tumor of the pituitary", "malignant prolactin secreting tumor of the pituitary gland", "malignant prolactin secreting tumour of pituitary", "malignant prolactin secreting tumour of pituitary gland", "malignant prolactin secreting tumour of the pituitary", "malignant prolactin secreting tumour of the pituitary gland", "malignant prolactinoma", "malignant prolactinoma of pituitary", "malignant prolactinoma of pituitary gland", "malignant prolactinoma of the pituitary", "malignant prolactinoma of the pituitary gland", "prolactin producing pituitary gland carcinoma", "prolactin-producing pituitary gland carcinoma"], "xref": ["EFO:1000497", "GARD:0024393", "MEDGEN:277338", "NCIT:C5962", "UMLS:C1334614"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.", "id": "MONDO:0006389", "name": "Prostate rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["prostate gland rhabdomyosarcoma", "prostate gland rhabdomyosarcoma (disease)", "prostate rhabdomyosarcoma", "rhabdomyosarcoma (disease) of prostate gland", "rhabdomyosarcoma of prostate", "rhabdomyosarcoma of the prostate"], "xref": ["DOID:3252", "EFO:1000498", "GARD:0024394", "MEDGEN:233356", "NCIT:C5522", "UMLS:C1335518"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.", "id": "MONDO:0006390", "name": "Prostate small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Oat cell carcinoma of prostate", "Oat cell carcinoma of the prostate", "prostate Oat cell carcinoma", "prostate gland small cell carcinoma", "prostate oat cell carcinoma", "prostate small cell NEC", "prostate small cell carcinoma", "prostate small cell neuroendocrine carcinoma", "small cell carcinoma of prostate", "small cell carcinoma of prostate gland", "small cell carcinoma of the prostate"], "xref": ["DOID:7141", "EFO:1000499", "GARD:0024395", "MEDGEN:266251", "NCIT:C6766", "ONCOTREE:PRSCC", "SCTID:396198006", "UMLS:C1300585"]}
{"category": ["biolink:Disease"], "description": "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.", "id": "MONDO:0006391", "name": "Pyloric gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pyloric gastric gland adenoma", "pyloric gland adenoma"], "xref": ["EFO:1000501", "MEDGEN:1771507", "NCIT:C43526", "UMLS:C5421225"]}
{"category": ["biolink:Disease"], "description": "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.", "id": "MONDO:0006392", "name": "Rectal hyperplastic polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperplastic polyp of rectum", "hyperplastic polyp of the rectum", "rectal Hp", "rectal MP", "rectal metaplastic polyp"], "xref": ["EFO:1000502", "MEDGEN:277574", "NCIT:C5619", "UMLS:C1335679"]}
{"category": ["biolink:Disease"], "description": "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.", "id": "MONDO:0006393", "name": "Rectal traditional serrated adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rectal TSA", "rectal serrated adenoma", "rectal serrated adenoma type II", "rectal traditional serrated adenoma"], "xref": ["EFO:1000503", "MEDGEN:474423", "NCIT:C96463", "UMLS:C3272790"]}
{"category": ["biolink:Disease"], "description": "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006394", "name": "Rectal tubular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rectal tubular adenoma"], "xref": ["EFO:1000504", "MEDGEN:474437", "NCIT:C96477", "UMLS:C3272804"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006395", "name": "Rectal tubulovillous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Villotubular adenoma of rectum", "Villotubular adenoma of the rectum", "rectal Villotubular adenoma", "rectal tubulovillous adenoma", "tubulovillous adenoma of rectum", "tubulovillous adenoma of the rectum"], "xref": ["EFO:1000505", "MEDGEN:277578", "NCIT:C5620", "SCTID:448428002", "UMLS:C1335691"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006396", "name": "Rectal villous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rectal villous adenoma", "rectum villous adenoma", "villous adenoma of rectum", "villous adenoma of the rectum"], "xref": ["EFO:1000506", "MEDGEN:152675", "NCIT:C4919", "SCTID:312823001", "UMLS:C0730199"]}
{"category": ["biolink:Disease"], "description": "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.", "id": "MONDO:0006397", "name": "Renal cell carcinoma associated with xp11.2 translocations/tfe3 gene fusions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TFE3-Rearranged renal cell carcinoma", "Xp11.2 translocation-related renal cell carcinoma", "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions", "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions", "tRCC"], "xref": ["DOID:0081415", "EFO:1000508", "GARD:0024396", "ICDO:0000/0", "MEDGEN:235005", "NCIT:C27891", "ONCOTREE:TRCC", "UMLS:C1337036"]}
{"category": ["biolink:Disease"], "description": "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.", "id": "MONDO:0006398", "name": "Retroperitoneal inflammatory myofibroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["retroperitoneal inflammatory myofibroblastic tumor", "retroperitoneal space inflammatory myofibroblastic tumor", "retroperitoneal space inflammatory myofibroblastic tumour"], "xref": ["EFO:1000510", "GARD:0024397", "MEDGEN:271681", "NCIT:C39741", "UMLS:C1514921"]}
{"category": ["biolink:Disease"], "description": "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.", "id": "MONDO:0006400", "name": "Salivary gland acinic cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acinic cell carcinoma of salivary gland", "acinic cell carcinoma of the salivary gland", "acinic cell neoplasm of salivary gland", "acinic cell neoplasm of the salivary gland", "acinic cell tumor of salivary gland", "acinic cell tumor of the salivary gland", "acinic cell tumour of salivary gland", "acinic cell tumour of the salivary gland", "salivary gland acinic cell cancer", "salivary gland acinic cell neoplasm", "salivary gland acinic cell tumor", "salivary gland acinic cell tumour"], "xref": ["EFO:1000513", "GARD:0027751", "MEDGEN:79030", "NCIT:C8013", "UMLS:C0279738"]}
{"category": ["biolink:Disease"], "description": "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.", "id": "MONDO:0006401", "name": "Salivary gland adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["saliva-secreting gland adenosquamous carcinoma", "salivary gland adenosquamous carcinoma"], "xref": ["GARD:0024398", "MEDGEN:277627", "NCIT:C35737", "UMLS:C1335894"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.", "id": "MONDO:0006402", "name": "Salivary gland basal cell adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basal cell adenocarcinoma", "basal cell adenocarcinoma of salivary gland", "basal cell adenocarcinoma of the salivary gland", "saliva-secreting gland skin basal cell carcinoma", "salivary gland basal cell adenocarcinoma", "skin basal cell carcinoma of saliva-secreting gland"], "xref": ["EFO:1000515", "GARD:0024399", "ICDO:8147/3", "MEDGEN:412203", "NCIT:C3678", "UMLS:C2243086"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.", "id": "MONDO:0006403", "name": "Salivary gland carcinoma ex pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["saliva-secreting gland carcinoma ex pleomorphic adenoma", "salivary gland carcinoma ex pleomorphic adenoma"], "xref": ["DOID:297", "EFO:1000516", "GARD:0027752", "MEDGEN:274190", "NCIT:C40410", "UMLS:C1519172"]}
{"category": ["biolink:Disease"], "description": "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.", "id": "MONDO:0006404", "name": "Salivary gland large cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["large cell salivary gland carcinoma", "large cell undifferentiated salivary gland carcinoma", "saliva-secreting gland large cell carcinoma", "salivary gland large cell carcinoma"], "xref": ["EFO:1000517", "GARD:0027753", "MEDGEN:810975", "NCIT:C35735", "UMLS:C2111671"]}
{"category": ["biolink:Disease"], "description": "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.", "id": "MONDO:0006405", "name": "Salivary gland small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic small cell carcinoma of salivary gland", "anaplastic small cell carcinoma of the salivary gland", "neuroendocrine carcinoma of salivary gland", "neuroendocrine carcinoma of the salivary gland", "saliva-secreting gland small cell carcinoma", "salivary gland anaplastic small cell carcinoma", "salivary gland small cell carcinoma", "small cell carcinoma of saliva-secreting gland", "small cell salivary gland carcinoma"], "xref": ["EFO:1000519", "GARD:0024400", "MEDGEN:234786", "NCIT:C35703", "UMLS:C1335982"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.", "id": "MONDO:0006406", "name": "Sarcomatoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma, spindle cell, malignant", "pseudosarcomatous carcinoma", "sarcomatoid carcinoma", "spindle cell carcinoma", "spindle cell carcinoma (morphologic abnormality)"], "xref": ["DOID:4015", "EFO:1000520", "ICDO:8032/3", "ICDO:8033/3", "MEDGEN:60009", "NCIT:C27004", "UMLS:C0205697"]}
{"category": ["biolink:Disease"], "description": "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.", "id": "MONDO:0006407", "name": "Sarcomatoid mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant fibrous mesothelioma (morphologic abnormality)", "sarcomatoid mesothelioma", "sarcomatoid mesothelioma (morphologic abnormality)"], "xref": ["DOID:4488", "EFO:1000521", "GARD:0024401", "MEDGEN:137774", "NCIT:C45655", "UMLS:C0334513"]}
{"category": ["biolink:Disease"], "description": "A rare adenoma of the adrenal cortex that produces androgens or estrogens.", "id": "MONDO:0006408", "name": "Sex hormone-producing adrenal cortex adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Sex hormone producing adrenal cortex adenoma", "Sex hormone producing adrenal cortical adenoma"], "xref": ["EFO:1000523", "GARD:0024402", "MEDGEN:328025", "NCIT:C48452", "UMLS:C1710067"]}
{"category": ["biolink:Disease"], "description": "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.", "id": "MONDO:0006409", "name": "Signet ring cell gastric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric signet Ring cell adenocarcinoma", "gastric signet ring cell adenocarcinoma", "signet Ring cell adenocarcinoma of stomach", "signet Ring cell adenocarcinoma of the stomach", "signet Ring cell stomach adenocarcinoma", "signet ring cell gastric adenocarcinoma"], "xref": ["DOID:8025", "EFO:1000524", "GARD:0027754", "MEDGEN:234782", "NCIT:C5250", "ONCOTREE:SSRCC", "UMLS:C1335965"]}
{"category": ["biolink:Disease"], "description": "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.", "id": "MONDO:0006410", "name": "Simple endometrial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000525", "ICD9:621.31", "MEDGEN:96819", "NCIT:C35463", "SCTID:198324001", "UMLS:C0456483"]}
{"category": ["biolink:Disease"], "description": "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.", "id": "MONDO:0006411", "name": "Sinonasal undifferentiated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sinonasal anaplastic carcinoma", "sinonasal undifferentiated carcinoma", "undifferentiated Sinonasal cancer"], "xref": ["DOID:0080799", "EFO:1000527", "MEDGEN:313704", "MESH:C537344", "NCIT:C54294", "ONCOTREE:SNUC", "SCTID:697993003", "UMLS:C1710096"]}
{"category": ["biolink:Disease"], "description": "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.", "id": "MONDO:0006412", "name": "Rosai-Dorfman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Destombes-RosaC/-Dorfman disease", "Destombes-Rosaï-Dorfman disease", "RDD", "RosaC/-Dorfman-Destombes disease", "Rosai-Dorfman Disease", "Rosai-Dorfman disease", "Rosaï-Dorfman-Destombes disease", "SHML", "sinus histiocytosis with massive lymphadenopathy"], "xref": ["GARD:0007588", "ICD9:277.89", "MEDGEN:9266", "MESH:D015618", "MedDRA:10063397", "NANDO:2200039", "NCIT:C36075", "NORD:1676", "ONCOTREE:RDD", "Orphanet:158014", "SCTID:34287003", "UMLS:C0019625", "icd11.foundation:1908538383"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.", "id": "MONDO:0006414", "name": "Skin sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cutaneous sarcoma", "sarcoma of skin", "sarcoma of the skin", "sarcoma of zone of skin", "skin sarcoma", "zone of skin sarcoma"], "xref": ["DOID:2687", "EFO:1000531", "GARD:0024403", "MEDGEN:208989", "NCIT:C5585", "UMLS:C0856900"]}
{"category": ["biolink:Disease"], "description": "A Burkitt lymphoma that arises from the small intestine.", "id": "MONDO:0006416", "name": "Small intestinal burkitt lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Burkitt lymphoma of small intestine", "Burkitts lymphoma of small intestine", "primary small intestinal Burkitt's lymphoma", "small intestinal Burkitt lymphoma", "small intestinal Burkitt's lymphoma", "small intestine Burkitt lymphoma", "small intestine Burkitt's lymphoma", "small intestine Burkitts lymphoma"], "xref": ["GARD:0024404", "MEDGEN:277650", "NCIT:C27409", "UMLS:C1335991"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that arises from the small intestine.", "id": "MONDO:0006417", "name": "Small intestinal diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diffuse large B-cell lymphoma of small intestine", "small intestinal diffuse large B-cell lymphoma", "small intestine diffuse large B-cell lymphoma"], "xref": ["EFO:1000534", "GARD:0024405", "MEDGEN:474155", "NCIT:C96055", "UMLS:C3272522", "icd11.foundation:1578565768"]}
{"category": ["biolink:Disease"], "description": "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.", "id": "MONDO:0006418", "name": "Small intestinal enteropathy-associated t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["enteropathy-associated T-cell lymphoma of small intestine", "small intestinal EATL", "small intestinal enteropathy-type T-cell lymphoma", "small intestine enteropathy-associated T-cell lymphoma"], "xref": ["EFO:1000535", "GARD:0024406", "MEDGEN:275445", "NCIT:C39610", "UMLS:C1519371"]}
{"category": ["biolink:Disease"], "description": "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.", "id": "MONDO:0006419", "name": "Small intestinal intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["small intestinal dysplasia", "small intestinal intraepithelial neoplasia"], "xref": ["MEDGEN:236822", "NCIT:C27462", "UMLS:C1335999"]}
{"category": ["biolink:Disease"], "description": "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.", "id": "MONDO:0006420", "name": "Small intestinal mucosa-associated lymphoid tissue lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MALT lymphoma of small bowel", "MALT lymphoma of small intestine", "MALT lymphoma of the small bowel", "MALT lymphoma of the small intestine", "MALToma of small bowel", "MALToma of small intestine", "MALToma of the small bowel", "MALToma of the small intestine", "mucosa-associated lymphoid tissue lymphoma of small bowel", "mucosa-associated lymphoid tissue lymphoma of small intestine", "mucosa-associated lymphoid tissue lymphoma of the small bowel", "mucosa-associated lymphoid tissue lymphoma of the small intestine", "small bowel MALT lymphoma", "small bowel MALToma", "small bowel mucosa-associated lymphoid tissue lymphoma", "small intestinal mucosa-associated lymphoid tissue lymphoma", "small intestine MALT lymphoma", "small intestine MALToma", "small intestine mucosa-associated lymphoid tissue lymphoma"], "xref": ["GARD:0024407", "MEDGEN:233452", "NCIT:C5635", "UMLS:C1336004"]}
{"category": ["biolink:Disease"], "description": "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006421", "name": "Small intestinal tubular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000538", "MEDGEN:328036", "NCIT:C43552", "UMLS:C1710112"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0006422", "name": "Small intestinal tubulovillous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000539", "MEDGEN:354182", "NCIT:C43553", "UMLS:C1710113"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.", "id": "MONDO:0006423", "name": "Soft tissue chondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chondroma of soft parts", "extraskeletal chondroma", "extraskeletal osteochondroma", "soft tissue chondroma"], "xref": ["DOID:3814", "EFO:1000540", "MEDGEN:266157", "NCIT:C9482", "SCTID:404078000", "UMLS:C1275277"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.", "id": "MONDO:0006424", "name": "Soft tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of soft tissue", "neoplasm of the soft tissue", "soft tissue neoplasm", "soft tissue tumor", "soft tissue tumors", "soft tissue tumour", "soft tissue tumours", "tumor of soft tissue", "tumor of the soft tissue", "tumour of soft tissue", "tumour of the soft tissue"], "xref": ["EFO:1000541", "MEDGEN:11495", "NCIT:C3377", "ONCOTREE:SOFT_TISSUE", "SCTID:387837005", "UMLS:C0037579"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.", "id": "MONDO:0006426", "name": "Spinal cord primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["primitive neuroectodermal neoplasm of spinal cord", "primitive neuroectodermal neoplasm of the spinal cord", "primitive neuroectodermal tumor of spinal cord", "primitive neuroectodermal tumor of the spinal cord", "primitive neuroectodermal tumour of spinal cord", "primitive neuroectodermal tumour of the spinal cord", "spinal cord PNET", "spinal cord primitive neuroectodermal neoplasm", "spinal cord primitive neuroectodermal tumor"], "xref": ["DOID:6872", "EFO:1000545", "GARD:0027755", "MEDGEN:234805", "NCIT:C5406", "UMLS:C1336048"]}
{"category": ["biolink:Disease"], "description": "A melanoma characterized by the presence of malignant spindle-shaped melanocytes.", "id": "MONDO:0006427", "name": "Spindle cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant spindle cell melanoma", "spindle cell malignant melanoma", "spindle cell melanoma"], "xref": ["DOID:3162", "EFO:1000546", "ICDO:8772/3", "MEDGEN:83147", "NCIT:C4237", "SCTID:403923002", "UMLS:C0334444"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma occurring in the spleen.", "id": "MONDO:0006428", "name": "Splenic diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["primary splenic diffuse large B-cell lymphoma", "splenic diffuse large B-cell lymphoma"], "xref": ["EFO:1000547", "GARD:0024408", "MEDGEN:412154", "NCIT:C7308", "UMLS:C2018774"]}
{"category": ["biolink:Disease"], "description": "A rare Hodgkin lymphoma that arises from the spleen.", "id": "MONDO:0006429", "name": "Splenic hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Hodgkin's disease of spleen", "Hodgkin's disease of the spleen", "Hodgkin's lymphoma of spleen", "Hodgkin's lymphoma of the spleen", "primary splenic Hodgkin's lymphoma", "splenic Hodgkin's disease", "splenic Hodgkin's lymphoma", "splenic Hodgkins lymphoma"], "xref": ["GARD:0024409", "MEDGEN:56323", "NCIT:C7295", "SCTID:93527005", "UMLS:C0153791"]}
{"category": ["biolink:Disease"], "description": "A mantle cell lymphoma occurring in the spleen.", "id": "MONDO:0006430", "name": "Splenic mantle cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["splenic mantle cell lymphoma"], "xref": ["EFO:1000549", "GARD:0024410", "MEDGEN:384473", "NCIT:C7306", "UMLS:C2018777"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.", "id": "MONDO:0006432", "name": "Stromal predominant kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["stromal predominant Wilms tumor", "stromal predominant Wilms tumour", "stromal predominant kidney Wilms tumor", "stromal predominant kidney Wilms' tumor", "stromal predominant kidney adenosarcoma", "stromal predominant nephroblastoma", "stromal predominant renal Wilm's tumor", "stromal predominant renal Wilm's tumour", "stromal predominant renal Wilms tumor", "stromal predominant renal Wilms' tumor", "stromal predominant renal Wilms' tumour", "stromal predominant renal adenosarcoma"], "xref": ["DOID:5191", "GARD:0024411", "MEDGEN:83529", "NCIT:C9148", "UMLS:C0279610"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.", "id": "MONDO:0006435", "name": "Submandibular gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of submandibular gland", "adenocarcinoma of the submandibular gland", "submandibular gland adenocarcinoma"], "xref": ["EFO:1000554", "GARD:0027756", "MEDGEN:234370", "NCIT:C5940", "UMLS:C1336521"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.", "id": "MONDO:0006436", "name": "Submandibular gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of submandibular gland", "adenoid cystic carcinoma of the submandibular gland", "submandibular gland adenoid cystic carcinoma"], "xref": ["EFO:1000555", "GARD:0024412", "MEDGEN:277773", "NCIT:C5935", "SCTID:423189008", "UMLS:C1336522"]}
{"category": ["biolink:Disease"], "description": "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.", "id": "MONDO:0006438", "name": "Synovial chondromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Henderson-Jones syndrome", "Reichel's syndrome"], "xref": ["EFO:1000557", "MEDGEN:40275", "MESH:D015838", "NCIT:C34467", "UMLS:C0008476"]}
{"category": ["biolink:Disease"], "description": "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.", "id": "MONDO:0006442", "name": "Tendon sheath fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroma of tendon sheath", "fibroma of the tendon sheath", "tendon sheath fibroma"], "xref": ["EFO:1000561", "ICD9:215.9", "MEDGEN:226901", "NCIT:C6485", "SCTID:403992002", "UMLS:C1275236"]}
{"category": ["biolink:Disease"], "description": "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.", "id": "MONDO:0006444", "name": "Teratoma with malignant transformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["dermoid cyst with malignant transformation", "teratoma with malignant transformation"], "xref": ["DOID:0081246", "EFO:1000563", "GARD:0010646", "ICDO:9084/3", "MEDGEN:87256", "NANDO:2200107", "NCIT:C4289", "ONCOTREE:TMT", "UMLS:C0334523"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.", "id": "MONDO:0006446", "name": "Testicular embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["embryonal carcinoma of testis", "embryonal carcinoma of the testis", "embryonal testis carcinoma", "testicular embryonal carcinoma", "testis embryonal carcinoma"], "xref": ["DOID:5680", "EFO:1000565", "GARD:0024413", "MEDGEN:66771", "NCIT:C6341", "UMLS:C0238448"]}
{"category": ["biolink:Disease"], "description": "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.", "id": "MONDO:0006447", "name": "Testicular non-seminomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-dysgerminomatous germ cell tumor of testis", "non-dysgerminomatous germ cell tumour of testis", "non-seminomatous germ cell tumor of testis", "non-seminomatous germ cell tumour of testis", "testicular germ cell tumor non-seminomatous", "testicular germ cell tumour non-seminomatous", "testicular non seminomatous germ cell tumor", "testicular non seminomatous germ cell tumour", "testicular non-dysgerminomatous germ cell tumor", "testicular non-dysgerminomatous germ cell tumour", "testicular non-seminomatous germ cell tumor"], "xref": ["DOID:4086", "EFO:1000570", "GARD:0017561", "ICDO:9065/3", "MEDGEN:890627", "NCIT:C9313", "Orphanet:363494", "UMLS:C2057625"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.", "id": "MONDO:0006450", "name": "Therapy-related myeloid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related", "therapy-related AML and MDS", "therapy-related acute myeloid leukaemia and myelodysplastic syndrome", "therapy-related acute myeloid leukemia and myelodysplastic syndrome", "therapy-related myeloid neoplasm"], "xref": ["EFO:1000575", "GARD:0024414", "ICDO:9920/3", "NCIT:C27912", "ONCOTREE:TMN"]}
{"category": ["biolink:Disease"], "description": "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.", "id": "MONDO:0006451", "name": "Thymic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of thymus", "malignant thymoma", "thymic carcinoma", "thymic carcinoma (excluding well differentiated thymic carcinoma)", "thymic carcinoma excluding well differentiated thymic carcinoma", "thymoma type C", "thymoma, malignant", "thymoma, malignant (morphologic abnormality)", "thymoma, type C (morphologic abnormality)", "thymus carcinoma", "type C thymoma"], "xref": ["DOID:3284", "DOID:4554", "EFO:1000576", "GARD:0019695", "ICDO:8586/3", "MEDGEN:60049", "MedDRA:10061031", "NANDO:2200079", "NCIT:C7569", "NCIT:C7612", "ONCOTREE:THYC", "Orphanet:99868", "SCTID:444374006", "UMLS:C0205969", "icd11.foundation:1351671383"]}
{"category": ["biolink:Disease"], "description": "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.", "id": "MONDO:0006452", "name": "Thymic sarcomatoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Thymus sarcomatoid carcinoma", "sarcomatoid carcinoma of Thymus", "sarcomatoid carcinoma of the Thymus", "thymic carcinosarcoma", "thymic sarcomatoid carcinoma", "thymic spindle cell carcinoma", "thymus sarcomatoid carcinoma"], "xref": ["DOID:8138", "EFO:1000577", "GARD:0024415", "MEDGEN:234772", "NCIT:C6463", "UMLS:C1335924"]}
{"category": ["biolink:Disease"], "description": "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.", "id": "MONDO:0006455", "name": "Thymic undifferentiated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["thymic undifferentiated carcinoma"], "xref": ["EFO:1000580", "GARD:0024416", "MEDGEN:1864846", "NCIT:C35718", "UMLS:C2188088"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.", "id": "MONDO:0006456", "name": "Thymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["primary thymic epithelial neoplasm", "primary thymic epithelial tumor", "primary thymic epithelial tumour", "thymoma", "thymoma (disease)"], "xref": ["DOID:3275", "EFO:1000581", "GARD:0016922", "HP:0100522", "ICD9:239.89", "ICDO:8580/1", "MEDGEN:52743", "MESH:D013945", "MedDRA:10043670", "NCIT:C3411", "ONCOTREE:THYM", "Orphanet:99867", "SCTID:444231005", "UMLS:C0040100", "icd11.foundation:33869057"]}
{"category": ["biolink:Disease"], "description": "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.", "id": "MONDO:0006458", "name": "Thymoma type b3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["atypical thymoma", "epithelial malignant thymoma", "epithelial thymoma", "malignant thymoma type B3", "squamoid thymoma", "thymoma type B3", "well differentiated thymic carcinoma", "well-differentiated thymic carcinoma"], "xref": ["DOID:7926", "EFO:1000583", "GARD:0024417", "ICDO:8585/1", "ICDO:8585/3", "MEDGEN:124648", "NCIT:C7997", "UMLS:C0279705"]}
{"category": ["biolink:Disease"], "description": "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.", "id": "MONDO:0006459", "name": "Thymoma type b1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphocyte-predominant thymoma", "lymphocyte-rich thymoma", "organoid thymoma", "predominantly cortical thymoma", "thymoma type B1"], "xref": ["DOID:6917", "EFO:1000584", "GARD:0024418", "ICDO:8583/1", "MEDGEN:224761", "NCIT:C6887", "UMLS:C1266094"]}
{"category": ["biolink:Disease"], "description": "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.", "id": "MONDO:0006460", "name": "Thyroglossal duct cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["thyroglossal tract cyst"], "xref": ["EFO:1000585", "ICD9:759.2", "MEDGEN:11810", "MESH:D013955", "Orphanet:489", "SCTID:39462005", "UMLS:C0040124", "icd11.foundation:699074418"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma primarily involving the thyroid gland.", "id": "MONDO:0006462", "name": "Thyroid gland diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diffuse large B-cell lymphoma of the thyroid", "diffuse large B-cell lymphoma of the thyroid gland", "diffuse large B-cell lymphoma of thyroid", "diffuse large B-cell lymphoma of thyroid gland", "primary thyroid gland diffuse large B-cell lymphoma", "thyroid diffuse large B-cell lymphoma", "thyroid gland diffuse large B-cell lymphoma"], "xref": ["EFO:1000587", "GARD:0024419", "MEDGEN:234429", "NCIT:C6046", "UMLS:C1336749"]}
{"category": ["biolink:Disease"], "description": "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.", "id": "MONDO:0006463", "name": "Thyroid gland mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucoepidermoid thyroid carcinoma", "mucoepidermoid thyroid gland carcinoma", "thyroid gland mucoepidermoid carcinoma"], "xref": ["DOID:4687", "EFO:1000590", "GARD:0024420", "MEDGEN:270845", "NCIT:C38762", "UMLS:C1513721"]}
{"category": ["biolink:Disease"], "description": "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.", "id": "MONDO:0006464", "name": "Thyroid gland mucosa-associated lymphoid tissue lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["thyroid MALT lymphoma", "thyroid mucosa-associated lymphoid tissue lymphoma"], "xref": ["EFO:1000591", "GARD:0024421", "MEDGEN:234948", "NCIT:C7601", "UMLS:C1336754"]}
{"category": ["biolink:Disease"], "description": "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.", "id": "MONDO:0006466", "name": "Thyroid gland spindle cell tumor with thymus-like differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SETTLE", "settle", "spindle epithelial tumor with thymus-like differentiation tumor"], "xref": ["DOID:0050923", "DOID:0081461", "EFO:1000593", "GARD:0024422", "ICDO:8588/3", "MEDGEN:220415", "NCIT:C46105", "UMLS:C1266099"]}
{"category": ["biolink:Disease"], "description": "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.", "id": "MONDO:0006467", "name": "Thyroid gland squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["squamous cell thyroid gland carcinoma", "thyroid gland squamous cell carcinoma"], "xref": ["EFO:1000594", "GARD:0024423", "MEDGEN:328050", "NCIT:C46008", "UMLS:C1710177"]}
{"category": ["biolink:Disease"], "description": "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.", "id": "MONDO:0006468", "name": "Thyroid gland undifferentiated (anaplastic) carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dedifferentiated thyroid gland carcinoma", "anaplastic carcinoma of the thyroid", "anaplastic carcinoma of the thyroid gland", "anaplastic carcinoma of thyroid", "anaplastic carcinoma of thyroid gland", "anaplastic thyroid cancer", "anaplastic thyroid carcinoma", "anaplastic thyroid gland carcinoma", "metaplastic thyroid gland carcinoma", "pleomorphic thyroid gland carcinoma", "sarcomatoid thyroid gland carcinoma", "thyroid gland carcinosarcoma", "thyroid gland undifferentiated (anaplastic) carcinoma", "thyroid gland undifferentiated carcinoma", "undifferentiated (anaplastic) thyroid gland cancer", "undifferentiated (anaplastic) thyroid gland carcinoma", "undifferentiated carcinoma of the thyroid", "undifferentiated carcinoma of the thyroid gland", "undifferentiated carcinoma of thyroid", "undifferentiated carcinoma of thyroid gland", "undifferentiated thyroid carcinoma", "undifferentiated thyroid gland carcinoma", "undifferentiated thyroid tumor", "undifferentiated thyroid tumour"], "xref": ["DOID:0080522", "EFO:1000595", "GARD:0000664", "HP:0011779", "MEDGEN:116064", "MESH:D065646", "MedDRA:10002240", "NCIT:C3878", "ONCOTREE:THAP", "Orphanet:142", "SCTID:255031003", "UMLS:C0238461", "icd11.foundation:320540024"]}
{"category": ["biolink:Disease"], "description": "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).", "id": "MONDO:0006469", "name": "Tibial adamantinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adamantinoma of tibia", "tibia adamantinoma", "tibia long bone adamantinoma", "tibial adamantinoma"], "xref": ["DOID:6322", "GARD:0024424", "MEDGEN:220874", "NCIT:C8461", "SCTID:281702006", "UMLS:C1273017"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.", "id": "MONDO:0006470", "name": "Tonsillar squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SCC of the tonsil", "SCC of tonsil", "palatine tonsil squamous cell carcinoma", "squamous cell carcinoma of the tonsil", "squamous cell carcinoma of tonsil", "tonsil SCC", "tonsil squamous cell carcinoma", "tonsillar SCC"], "xref": ["DOID:0050920", "EFO:1000597", "GARD:0024425", "MEDGEN:79101", "NCIT:C8183", "UMLS:C0280317", "icd11.foundation:342470657"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.", "id": "MONDO:0006471", "name": "Tracheal adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of the trachea", "adenoid cystic carcinoma of trachea", "trachea adenoid cystic carcinoma", "tracheal adenoid cystic carcinoma"], "xref": ["DOID:4875", "EFO:1000598", "GARD:0024426", "MEDGEN:91058", "NCIT:C6051", "SCTID:254619006", "UMLS:C0345945"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.", "id": "MONDO:0006474", "name": "Transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of transitional epithelial cell", "carcinoma of urothelial cell", "carcinoma, urothelial, malignant", "transitional carcinoma", "transitional cell carcinoma", "transitional epithelial cell carcinoma", "urothelial cell carcinoma"], "xref": ["DOID:2671", "EFO:1000601", "GARD:0007794", "ICDO:8120/3", "MEDGEN:2875", "MESH:D002295", "NCIT:C2930", "UMLS:C0007138"]}
{"category": ["biolink:Disease"], "description": "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.", "id": "MONDO:0006476", "name": "Undifferentiated gallbladder carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic carcinoma of gallbladder", "anaplastic carcinoma of the gallbladder", "anaplastic gallbladder carcinoma", "gall bladder undifferentiated carcinoma", "gallbladder undifferentiated carcinoma", "undifferentiated carcinoma of gallbladder", "undifferentiated carcinoma of the gallbladder", "undifferentiated gallbladder cancer", "undifferentiated gallbladder carcinoma"], "xref": ["EFO:1000604", "GARD:0024427", "MEDGEN:76010", "NCIT:C9167", "UMLS:C0279653"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.", "id": "MONDO:0006477", "name": "Undifferentiated ovarian carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic carcinoma of ovary", "anaplastic carcinoma of the ovary", "anaplastic ovarian carcinoma", "ovarian undifferentiated carcinoma", "ovary undifferentiated carcinoma", "undifferentiated carcinoma of ovary", "undifferentiated carcinoma of the ovary", "undifferentiated ovarian cancer", "undifferentiated ovarian carcinoma"], "xref": ["EFO:1000605", "GARD:0024428", "MEDGEN:83410", "NCIT:C4509", "SCTID:254856004", "UMLS:C0346167"]}
{"category": ["biolink:Disease"], "description": "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.", "id": "MONDO:0006478", "name": "Undifferentiated pancreatic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pancreas undifferentiated carcinoma", "pancreatic carcinosarcoma", "pleomorphic large cell pancreatic carcinoma", "sarcomatoid pancreatic carcinoma", "spindle cell pancreatic carcinoma", "undifferentiated (anaplastic) pancreatic carcinoma", "undifferentiated carcinoma of pancreas", "undifferentiated carcinoma of the pancreas", "undifferentiated pancreatic carcinoma"], "xref": ["EFO:1000606", "GARD:0027757", "MEDGEN:237030", "NCIT:C5722", "ONCOTREE:UCP", "UMLS:C1336861"]}
{"category": ["biolink:Disease"], "description": "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.", "id": "MONDO:0006479", "name": "Undifferentiated pancreatic carcinoma with osteoclast-like giant cells", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OGCT of pancreas", "osteoclast-like giant cell neoplasm of pancreas", "osteoclast-like giant cell neoplasm of the pancreas", "osteoclastic giant cell tumor of pancreas", "osteoclastic giant cell tumour of pancreas", "pancreatic osteoclast-like giant cell carcinoma", "pancreatic osteoclastic giant cell tumor", "pancreatic osteoclastic giant cell tumour", "pancreatic undifferentiated carcinoma with osteoclast-like giant cells", "undifferentiated carcinoma of pancreas with osteoclast-like giant cells", "undifferentiated pancreatic carcinoma with osteoclast-like giant cells"], "xref": ["DOID:7718", "EFO:1000607", "GARD:0021782", "MEDGEN:389157", "NCIT:C5723", "Orphanet:424080", "UMLS:C2007059"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.", "id": "MONDO:0006480", "name": "Undifferentiated pleomorphic sarcoma, inflammatory variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammatory MFH", "inflammatory malignant fibrous histiocytoma", "malignant xanthogranuloma", "undifferentiated pleomorphic sarcoma, inflammatory variant"], "xref": ["DOID:6192", "EFO:1000608", "GARD:0024429", "MEDGEN:235211", "NCIT:C6497", "UMLS:C1334180"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the ureter.", "id": "MONDO:0006481", "name": "Ureter carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of the ureter", "carcinoma of ureter", "ureter carcinoma", "ureteral carcinoma"], "xref": ["DOID:4939", "EFO:1000609", "MEDGEN:109002", "NCIT:C8993", "SCTID:448864006", "UMLS:C0600079"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.", "id": "MONDO:0006482", "name": "Ureter small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["small cell carcinoma of the ureter", "small cell carcinoma of ureter", "ureter small cell carcinoma", "ureteral small cell carcinoma"], "xref": ["DOID:6886", "GARD:0024430", "MEDGEN:234971", "NCIT:C6176", "UMLS:C1336878"]}
{"category": ["biolink:Disease"], "description": "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.", "id": "MONDO:0006483", "name": "Urothelial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["transitional cell dysplasia of the urinary tract", "urothelial dysplasia"], "xref": ["EFO:1000611", "MEDGEN:266165", "NCIT:C39856", "UMLS:C1275859"]}
{"category": ["biolink:Disease"], "description": "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.", "id": "MONDO:0006484", "name": "Usual ductal breast hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["UDH", "ductal breast hyperplasia of usual type", "ordinary intraductal breast hyperplasia"], "xref": ["EFO:1000612", "ICD9:611.89", "MEDGEN:759542", "NCIT:C27941", "SCTID:472905007", "UMLS:C3532429"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.", "id": "MONDO:0006485", "name": "Uterine carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinosarcoma of the uterus", "malignant mixed mesodermal (Mullerian) tumor of the uterus", "malignant mixed mesodermal (Mullerian) tumour of the uterus", "malignant mixed mesodermal (Müllerian) tumor of the uterus", "malignant mixed mesodermal (Müllerian) tumour of the uterus", "uterine carcinosarcoma", "uterine malignant mixed mesodermal (Mullerian) tumor", "uterine malignant mixed mesodermal (Mullerian) tumour", "uterine malignant mixed mesodermal (Müllerian) tumor", "uterine malignant mixed mesodermal (Müllerian) tumour", "uterus carcinosarcoma"], "xref": ["DOID:6171", "EFO:1000613", "GARD:0027758", "MEDGEN:83678", "MESH:D012192", "NCIT:C42700", "ONCOTREE:UCS", "SCTID:702369008", "UMLS:C0280630"]}
{"category": ["biolink:Disease"], "description": "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.", "id": "MONDO:0006486", "name": "Uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intraocular melanoma", "melanoma (disease) of uvea", "melanoma of the uvea", "melanoma of uvea", "melanoma, uveal, malignant", "uvea melanoma", "uvea melanoma (disease)", "uveal melanoma"], "xref": ["DOID:6039", "EFO:1000616", "GARD:0008621", "MEDGEN:65077", "MESH:C536494", "MedDRA:10061252", "NCIT:C7712", "OMIM:155720", "ONCOTREE:UM", "Orphanet:39044", "UMLS:C0220633"]}
{"category": ["biolink:Disease"], "description": "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.", "id": "MONDO:0006487", "name": "Vaginal adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vaginal adenoid cystic cancer", "vaginal adenoid cystic carcinoma"], "xref": ["GARD:0024431", "MEDGEN:274376", "NCIT:C40261", "UMLS:C1519912"]}
{"category": ["biolink:Disease"], "description": "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.", "id": "MONDO:0006488", "name": "Vaginal carcinosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vaginal carcinosarcoma", "vaginal malignant mixed mesodermal (Müllerian) tumor", "vaginal malignant mixed mesodermal (Müllerian) tumour"], "xref": ["DOID:136", "MEDGEN:275573", "NCIT:C40278", "UMLS:C1519918"]}
{"category": ["biolink:Disease"], "description": "A primary malignant neoplasm of the vagina composed of malignant melanocytes.", "id": "MONDO:0006489", "name": "Vaginal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["melanoma (disease) of vagina", "melanoma of the vagina", "melanoma of vagina", "vagina melanoma", "vagina melanoma (disease)", "vaginal melanoma"], "xref": ["EFO:1000619", "MEDGEN:378335", "NCIT:C27394", "ONCOTREE:VMM", "UMLS:C2004576"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.", "id": "MONDO:0006490", "name": "Vaginal squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of vagina squamous cell", "epidermoid carcinoma of the vagina", "epidermoid carcinoma of vagina", "epidermoid cell carcinoma of the vagina", "epidermoid cell carcinoma of vagina", "squamous cell carcinoma of the vagina", "squamous cell carcinoma of vagina", "vagina epidermoid carcinoma", "vagina epidermoid cell carcinoma", "vagina squamous cell carcinoma", "vaginal epidermoid carcinoma", "vaginal epidermoid cell carcinoma", "vaginal squamous cell cancer", "vaginal squamous cell cancer, NOS", "vaginal squamous cell carcinoma"], "xref": ["EFO:1000620", "GARD:0024432", "MEDGEN:66775", "NCIT:C180915", "NCIT:C7736", "ONCOTREE:VSC", "SCTID:105121000119102", "UMLS:C0238518"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.", "id": "MONDO:0006491", "name": "Vulvar lichen sclerosus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lichen sclerosus et atrophicus of mammalian vulva", "mammalian vulva lichen sclerosus et atrophicus", "vulvar lichen sclerosus"], "xref": ["EFO:1000623", "MEDGEN:7228", "MESH:D007724", "NCIT:C27723", "UMLS:C0022783"]}
{"category": ["biolink:Disease"], "description": "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.", "id": "MONDO:0006493", "name": "Warthin tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Warthin tumor", "Warthin's tumor", "Warthin's tumour", "adenolymphoma"], "xref": ["EFO:1000625", "ICDO:8561/0", "MEDGEN:124", "MESH:D000235", "NCIT:C2854", "SCTID:422470007", "UMLS:C0001429"]}
{"category": ["biolink:Disease"], "description": "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)", "id": "MONDO:0006496", "name": "Palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Plegia", "Plegias"], "xref": ["EFO:1000631", "ICD10CM:G80-G83", "MEDGEN:854494", "MESH:D010243", "UMLS:C3887651", "Wikipedia:Palsy"]}
{"category": ["biolink:Disease"], "description": "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.", "id": "MONDO:0006497", "name": "Cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infantile cerebral palsy"], "xref": ["CSP:0723-4729", "DOID:1969", "EFO:1000632", "HP:0100021", "ICD10CM:G80", "ICD10WHO:G80", "ICD9:343.8", "ICD9:343.9", "MEDGEN:854", "MESH:D002547", "NCIT:C34460", "SCTID:128188000", "UMLS:C0007789", "icd11.foundation:76906748"]}
{"category": ["biolink:Disease"], "description": "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.", "id": "MONDO:0006498", "name": "Adenomatous colon polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenomatous polyp of colon", "adenomatous polyp of the colon", "colon adenomatous polyp", "colonic adenomatous polyp"], "xref": ["EFO:1000633", "HP:0005227", "MEDGEN:163407", "NCIT:C96479", "SCTID:428054006", "UMLS:C0850572", "icd11.foundation:248829180"]}
{"category": ["biolink:Disease"], "description": "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.", "id": "MONDO:0006499", "name": "Hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hamartoma", "hamartoma (disease)"], "xref": ["DOID:3462", "EFO:1000634", "HP:0010566", "ICD9:759.6", "MEDGEN:6713", "MESH:D006222", "NCIT:C3075", "SCTID:400006008", "UMLS:C0018552"]}
{"category": ["biolink:Disease"], "description": "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.", "id": "MONDO:0006500", "name": "Hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign hemangioma", "hemangioma", "hemangioma, benign"], "xref": ["DOID:255", "EFO:1000635", "HP:0001028", "ICD10CM:D18.0", "ICD9:228.0", "ICD9:228.00", "ICD9:228.09", "ICDO:9120/0", "MEDGEN:5477", "MESH:D006391", "NCIT:C3085", "ONCOTREE:HEMA", "SCTID:400210000", "UMLS:C0018916"]}
{"category": ["biolink:Disease"], "description": "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.", "id": "MONDO:0006502", "name": "Acute respiratory distress syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ARDS", "acute respiratory distress syndrome", "shock lung"], "xref": ["EFO:1000637", "ICD10CM:J80", "MEDGEN:1812214", "MedDRA:10001052", "NCIT:C3353", "UMLS:C2887484", "icd11.foundation:1189702844"]}
{"category": ["biolink:Disease"], "description": "An instance of metabolic disease that is acquired during the lifetime of the individual.", "id": "MONDO:0006504", "name": "Acquired metabolic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acquired metabolic disease"], "xref": ["DOID:0060158", "EFO:1000639"]}
{"category": ["biolink:Disease"], "description": "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).", "id": "MONDO:0006505", "name": "Basal ganglia cerebrovascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebrovascular disorder of collection of basal ganglia", "collection of basal ganglia cerebrovascular disorder"], "xref": ["DOID:10991", "EFO:1000640", "MEDGEN:148381", "MESH:D020144", "UMLS:C0751739"]}
{"category": ["biolink:Disease"], "description": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.", "id": "MONDO:0006506", "name": "Congenital nonspherocytic hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["anemia, congenital, nonspherocytic hemolytic"], "xref": ["DOID:2861", "EFO:1000641", "GARD:0024433", "ICD9:282.3", "MEDGEN:284", "MESH:D000746", "OMIMPS:300908", "SCTID:301317008", "UMLS:C0002882"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder characterized by iron accumulation in the tissues.", "id": "MONDO:0006507", "name": "Hereditary hemochromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemochromatosis, hereditary"], "xref": ["DOID:2352", "GARD:0024434", "ICD10CM:E83.110", "MEDGEN:140272", "MESH:D006432", "NCIT:C84481", "OMIMPS:235200", "SCTID:35400008", "SCTID:399187006", "UMLS:C0392514"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.", "id": "MONDO:0006509", "name": "Papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary carcinoma", "papillary carcinoma (morphologic abnormality)", "papillary carcinoma NOS (morphologic abnormality)"], "xref": ["DOID:3113", "EFO:1000646", "ICDO:8050/3", "MEDGEN:40105", "MESH:D002291", "NCIT:C2927", "UMLS:C0007133"]}
{"category": ["biolink:Disease"], "description": "Genetic defects in the selective or non-selective transport functions of the kidney tubules.", "id": "MONDO:0006510", "name": "Renal tubular transport disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of renal absorption", "renal absorption disease"], "xref": ["DOID:447", "EFO:1000647", "MEDGEN:19728", "MESH:D015499", "UMLS:C0035091"]}
{"category": ["biolink:Disease"], "description": "A subtype of breast cancer that is estrogen-receptor positive", "id": "MONDO:0006512", "name": "Estrogen-receptor positive breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ER+ breast cancer", "estrogen receptor positive breast cancer", "oestrogen receptor positive breast cancer"], "xref": ["DOID:0060075", "EFO:1000649", "MEDGEN:1843470", "UMLS:C2938924"]}
{"category": ["biolink:Disease"], "description": "A subtype of breast cancer that is estrogen-receptor negative", "id": "MONDO:0006513", "name": "Estrogen-receptor negative breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ER- breast cancer"], "xref": ["DOID:0060076", "EFO:1000650"]}
{"category": ["biolink:Disease"], "description": "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.", "id": "MONDO:0006515", "name": "Acute pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute pancreatitis (disorder) [ambiguous]", "pancreatitis, acute"], "xref": ["DOID:2913", "EFO:1000652", "HP:0001735", "ICD10CM:K85", "ICD10WHO:K85", "ICD9:577.0", "MEDGEN:7872", "NCIT:C95437", "SCTID:7881005", "UMLS:C0001339", "Wikipedia:Acute_pancreatitis", "icd11.foundation:698285441"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).", "id": "MONDO:0006517", "name": "Childhood malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["childhood cancer", "childhood malignant neoplasm", "childhood neoplasm, malignant", "malignant childhood neoplasm", "malignant childhood tumor", "malignant childhood tumour", "malignant paediatric neoplasm", "malignant paediatric tumour", "malignant pediatric neoplasm", "malignant pediatric tumor", "paediatric cancer", "pediatric cancer"], "xref": ["EFO:1000654", "MEDGEN:82962", "NCIT:C4005", "UMLS:C0278704"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0006519", "name": "Rectal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of rectum", "malignant neoplasm of rectum", "malignant neoplasm of the rectum", "malignant rectal neoplasm", "malignant rectal tumor", "malignant rectal tumour", "malignant rectum neoplasm", "malignant rectum tumour", "malignant tumor of rectum", "malignant tumor of the rectum", "malignant tumour of rectum", "malignant tumour of the rectum", "rectal cancer", "rectum cancer"], "xref": ["DOID:1993", "EFO:1000657", "ICD10CM:C20", "ICD9:154.1", "MEDGEN:181763", "NCIT:C7418", "SCTID:363351006", "UMLS:C0949022", "icd11.foundation:1113099195"]}
{"category": ["biolink:Disease"], "description": "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.", "id": "MONDO:0006520", "name": "Achenbach syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Achenbach syndrome"], "xref": ["DOID:6687", "EFO:1000661", "GARD:0027759", "MEDGEN:99176", "NCIT:C35467", "PMID:22915534", "SCTID:238824006", "UMLS:C0473563"]}
{"category": ["biolink:Disease"], "description": "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).", "id": "MONDO:0006521", "name": "Acneiform dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Rash acneiform"], "xref": ["DOID:4399", "EFO:1000662", "MEDGEN:68607", "NCIT:C35277", "UMLS:C0234894"]}
{"category": ["biolink:Disease"], "description": "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.", "id": "MONDO:0006522", "name": "Acquired keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired keratoderma", "acquired keratosis", "keratoderma, acquired"], "xref": ["DOID:13072", "ICD9:701.1", "MEDGEN:44016", "NCIT:C34746", "SCTID:400166009", "UMLS:C0022581"]}
{"category": ["biolink:Disease"], "description": "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.", "id": "MONDO:0006523", "name": "Acrodermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "xref": ["CSP:4008-0032", "DOID:2722", "EFO:1000664", "GARD:0027760", "ICD9:686.8", "MEDGEN:1301", "MESH:D000169", "NCIT:C84532", "SCTID:8197001", "UMLS:C0001197"]}
{"category": ["biolink:Disease"], "description": "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.", "id": "MONDO:0006524", "name": "Acrodermatitis chronica atrophicans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060344", "EFO:1000665", "GARD:0027761", "ICD10CM:L90.4", "ICD9:701.8", "MEDGEN:537873", "SCTID:4340003", "UMLS:C0263421", "icd11.foundation:1761234822"]}
{"category": ["biolink:Disease"], "description": "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.", "id": "MONDO:0006525", "name": "Allergic contact dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic contact dermatitis", "allergic form of contact dermatitis"], "xref": ["DOID:3042", "EFO:1000668", "ICD10CM:L23", "ICD10WHO:L23", "ICD9:692.9", "MEDGEN:102474", "MESH:D017449", "NCIT:C26998", "SCTID:238575004", "UMLS:C0162820", "icd11.foundation:2020673786"]}
{"category": ["biolink:Disease"], "description": "A urticaria with a basis in a pathological type I hypersensitivity reaction.", "id": "MONDO:0006526", "name": "Allergic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic form of urticaria", "allergic form of urticaria (disease)", "allergic urticaria (disease)"], "xref": ["DOID:10612", "EFO:1000669", "ICD10CM:L50.0", "ICD9:708.0", "MEDGEN:508394", "SCTID:40178009", "UMLS:C0149526", "Wikipedia:Urticaria#Allergic_urticaria"]}
{"category": ["biolink:Disease"], "description": "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.", "id": "MONDO:0006527", "name": "Anhidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11156", "EFO:1000670", "ICD10CM:L74.4", "ICD9:705.0", "MEDGEN:1550", "SCTID:39659002", "UMLS:C0003028"]}
{"category": ["biolink:Disease"], "description": "A bacteria-induced exanthem", "id": "MONDO:0006528", "name": "Bacterial exanthem", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0050487"]}
{"category": ["biolink:Disease"], "description": "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.", "id": "MONDO:0006530", "name": "Cholesteatoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cholesteatoma", "cholesteatoma (disease)"], "xref": ["DOID:869", "EFO:1000675", "HP:0009797", "ICD9:385.30", "MEDGEN:3043", "MESH:D002781", "NCIT:C2944", "SCTID:363668000", "UMLS:C0008373"]}
{"category": ["biolink:Disease"], "description": "A cholesteatoma in the attic", "id": "MONDO:0006531", "name": "Cholesteatoma of attic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10963", "EFO:1000676", "ICD10CM:H71.0", "ICD9:385.31", "MEDGEN:509986", "SCTID:38708003", "UMLS:C0155489"]}
{"category": ["biolink:Disease"], "description": "A cholesteatoma (disease) that involves the external ear.", "id": "MONDO:0006532", "name": "Cholesteatoma of external ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cholesteatoma (disease) of external ear", "external ear cholesteatoma (disease)"], "xref": ["DOID:9462", "EFO:1000677", "ICD10CM:H60.4", "ICD9:380.21", "MEDGEN:509952", "SCTID:35247001", "UMLS:C0155398"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.", "id": "MONDO:0006533", "name": "Cholesteatoma of middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Epidermosis of ear", "Epidermosis of middle ear", "cholesteatoma (disease) of middle ear", "cholesteatoma of middle ear", "cholesteatoma of middle ear and mastoid", "cholesteatoma of the middle ear", "middle ear cholesteatoma", "middle ear cholesteatoma (disease)", "unspecified cholesteatoma (morphologic abnormality)"], "xref": ["DOID:10964", "EFO:1000678", "ICD10CM:H71", "ICD10WHO:H71", "ICD9:385.3", "ICD9:385.32", "ICD9:385.33", "MEDGEN:57836", "MESH:D018424", "NCIT:C3654", "SCTID:194339007", "UMLS:C0155490", "icd11.foundation:2134365487"]}
{"category": ["biolink:Disease"], "description": "A type of physical urticarias (or hives) that appears when a person is sweating.", "id": "MONDO:0006534", "name": "Cholinergic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14443", "EFO:1000679", "ICD10CM:L50.5", "ICD9:708.5", "MEDGEN:508939", "SCTID:73098005", "UMLS:C0152230", "Wikipedia:Cholinergic_urticaria", "icd11.foundation:855107748"]}
{"category": ["biolink:Disease"], "description": "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.", "id": "MONDO:0006536", "name": "Congenital generalized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital generalised lipodystrophy (disease)", "congenital generalized lipodystrophy", "congenital generalized lipodystrophy (disease)", "familial generalised lipodystrophy", "familial generalized lipodystrophy", "hereditary generalised lipodystrophy", "hereditary generalized lipodystrophy", "lipodystrophy, congenital generalised", "lipodystrophy, congenital generalized"], "xref": ["DOID:0050585", "EFO:1000681", "GARD:0024436", "HP:0009059", "MEDGEN:67438", "NANDO:1200859", "NORD:998", "OMIMPS:608594", "SCTID:284449005", "UMLS:C0221032"]}
{"category": ["biolink:Disease"], "description": "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.", "id": "MONDO:0006537", "name": "Conjunctival pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12304", "ICD9:372.55", "MEDGEN:509823", "SCTID:66081003", "UMLS:C0155163"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.", "id": "MONDO:0006539", "name": "Diffuse lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diffuse lipomatosis"], "xref": ["DOID:3923", "MEDGEN:272546", "NCIT:C6504", "UMLS:C1333298"]}
{"category": ["biolink:Disease"], "description": "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)", "id": "MONDO:0006540", "name": "Dyshidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DYSHYDROTIC eczema", "dyshidrosis", "vesicular eczema of hands and/or feet"], "xref": ["DOID:9230", "EFO:1000688", "ICD10CM:L30.1", "ICD9:692.9", "ICD9:705.81", "MEDGEN:10851", "MESH:D011146", "SCTID:402567004", "UMLS:C0032633", "Wikipedia:Dyshidrosis"]}
{"category": ["biolink:Disease"], "description": "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.", "id": "MONDO:0006541", "name": "Epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermolysis bullosa"], "xref": ["DOID:2730", "EFO:1000690", "GARD:0006359", "ICD10CM:Q81", "ICD10WHO:Q81", "ICD9:757.39", "MEDGEN:41832", "MESH:D004820", "NANDO:1200234", "NANDO:2100284", "NANDO:2201000", "NCIT:C67383", "SCTID:61003004", "UMLS:C0014527", "Wikipedia:Epidermolysis_bullosa"]}
{"category": ["biolink:Disease"], "description": "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.", "id": "MONDO:0006543", "name": "Epidermolysis bullosa dystrophica", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["DEB", "dermolytic epidermolysis bullosa", "epidermolysis bullosa dystrophica"], "xref": ["DOID:4959", "EFO:1000692", "GARD:0002150", "ICD10CM:Q81.2", "ICD9:757.39", "MEDGEN:37179", "MESH:D016108", "NCIT:C84691", "Orphanet:303", "SCTID:254185007", "UMLS:C0079294", "Wikipedia:Epidermolysis_bullosa_dystrophica", "icd11.foundation:1060981106"]}
{"category": ["biolink:Disease"], "description": "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.", "id": "MONDO:0006544", "name": "Erythema infectiosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fifth disease"], "xref": ["DOID:8743", "EFO:1000693", "ICD10CM:B08.3", "ICD9:057.0", "MEDGEN:43142", "MESH:D016731", "NCIT:C84695", "SCTID:34730008", "UMLS:C0085273", "icd11.foundation:352375140"]}
{"category": ["biolink:Disease"], "description": "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).", "id": "MONDO:0006545", "name": "Erythema multiforme", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0050185", "EFO:1000694", "ICD10CM:L51", "ICD10WHO:L51", "ICD9:695.1", "ICD9:695.10", "MEDGEN:4527", "MESH:D004892", "NCIT:C3024", "SCTID:36715001", "UMLS:C0014742", "icd11.foundation:364669853"]}
{"category": ["biolink:Disease"], "description": "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.", "id": "MONDO:0006546", "name": "Erythematosquamous dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["erythematosquamous dermatosis"], "xref": ["DOID:9097", "EFO:1000695", "ICD9:690", "ICD9:690.8", "MEDGEN:5014", "NCIT:C34591", "SCTID:54792008", "UMLS:C0014747"]}
{"category": ["biolink:Disease"], "description": "A skin disease characterized by widespread, often symmetrical skin eruption that typically occurs acutely in association with a systemic disease, especially infectious or immune-mediated conditions.", "id": "MONDO:0006547", "name": "Exanthem", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exanthem", "exanthem (disease)", "exanthema"], "xref": ["DOID:0050486", "EFO:1000697", "HP:0000988", "ICD9:782.1", "MEDGEN:8732", "MESH:D005076", "SCTID:271807003", "UMLS:C0015230", "Wikipedia:Exanthem"]}
{"category": ["biolink:Disease"], "description": "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.", "id": "MONDO:0006548", "name": "Facial dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3134", "MEDGEN:8760", "MESH:D005148", "UMLS:C0015456"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.", "id": "MONDO:0006549", "name": "Fibroepithelial polyp of the anus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anal fibroepithelial polyp", "anal fibrous polyp", "anal tag", "anus skin tag", "fibroepithelial polyp of anus", "fibrous polyp of anus", "fibrous polyp of the anus"], "xref": ["DOID:8170", "EFO:1000699", "MEDGEN:87519", "NCIT:C4435", "SCTID:195469007", "UMLS:C0345903"]}
{"category": ["biolink:Disease"], "description": "A benign polypoid lesion of mesodermal origin that arises from the urethra.", "id": "MONDO:0006550", "name": "Fibroepithelial polyp of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroepithelial polyp of the urethra", "fibroepithelial polyp of urethra", "urethra fibroepithelial polyp", "urethra skin tag", "urethral fibroepithelial polyp"], "xref": ["DOID:8108", "MEDGEN:234460", "NCIT:C6170", "UMLS:C1336884"]}
{"category": ["biolink:Disease"], "description": "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.", "id": "MONDO:0006551", "name": "Alopecia mucinosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["alopecia Mucinosa", "alopecia mucinosa", "alopecia mucinosis", "cutaneous focal mucinosis of hair follicle", "hair follicle cutaneous focal mucinosis"], "xref": ["DOID:9905", "EFO:1000701", "GARD:0024437", "ICD10CM:L65.2", "ICD9:704.09", "MEDGEN:1419", "MESH:D000507", "NCIT:C82859", "PMID:24350019", "SCTID:27382006", "UMLS:C0002173"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.", "id": "MONDO:0006552", "name": "Folliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dermatitis of hair follicle", "hair follicle dermatitis"], "xref": ["DOID:4409", "EFO:1000702", "ICD9:704.8", "MEDGEN:4752", "MESH:D005499", "NCIT:C94408", "SCTID:13600006", "UMLS:C0016436", "Wikipedia:Folliculitis"]}
{"category": ["biolink:Disease"], "description": "A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.", "id": "MONDO:0006553", "name": "Fox-fordyce disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Fox-Fordyce disease"], "xref": ["DOID:1381", "GARD:0027762", "ICD10CM:L75.2", "ICD9:705.82", "MEDGEN:42092", "MESH:D005588", "NCIT:C84716", "SCTID:65038009", "UMLS:C0016632", "Wikipedia:Fox-Fordyce_disease"]}
{"category": ["biolink:Disease"], "description": "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.", "id": "MONDO:0006554", "name": "Granuloma annulare", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["granuloma annulare"], "xref": ["DOID:3777", "EFO:1000704", "ICD10CM:L92.0", "ICD9:709.8", "MEDGEN:88319", "MESH:D016460", "NCIT:C3470", "SCTID:65508009", "UMLS:C0085074", "Wikipedia:Granuloma_annulare", "icd11.foundation:1925637202"]}
{"category": ["biolink:Disease"], "description": "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.", "id": "MONDO:0006555", "name": "Granulomatous dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4397", "EFO:1000705", "MEDGEN:196647", "NCIT:C3505", "UMLS:C0743086"]}
{"category": ["biolink:Disease"], "description": "Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.", "id": "MONDO:0006556", "name": "Hand dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3158", "EFO:1000706", "MEDGEN:6718", "MESH:D006229", "UMLS:C0018567"]}
{"category": ["biolink:Disease"], "description": "A hemangioma arising from the subcutaneous soft tissues.", "id": "MONDO:0006557", "name": "Hemangioma of subcutaneous tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["angioma of subcutaneous tissue", "angioma of the subcutaneous tissue", "hemangioma of subcutaneous tissue", "hemangioma of superficial fascia", "hemangioma of the subcutaneous tissue", "subcutaneous angioma", "subcutaneous hemangioma", "subcutaneous tissue angioma", "subcutaneous tissue hemangioma", "superficial fascia hemangioma"], "xref": ["DOID:13081", "GARD:0024438", "MEDGEN:146343", "NCIT:C8540", "SCTID:93473009", "UMLS:C0685200"]}
{"category": ["biolink:Disease"], "description": "A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.", "id": "MONDO:0006558", "name": "Pemphigoid gestationis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Herpes gestationis", "Herpes gestationis (disorder)", "Herpes gestationis NOS (disorder)", "Herpes gestationis unspecified (disorder)", "gestational pemphigoid", "pemphigoid gestationis"], "xref": ["DOID:0040098", "DOID:14482", "EFO:1000709", "GARD:0006497", "ICD10CM:O26.4", "ICD9:646.80", "MEDGEN:9233", "MESH:D006559", "MedDRA:10019939", "NCIT:C85003", "Orphanet:63275", "SCTID:86081009", "UMLS:C0019343", "Wikipedia:Gestational_pemphigoid", "icd11.foundation:1405755890"]}
{"category": ["biolink:Disease"], "description": "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.", "id": "MONDO:0006559", "name": "Hidradenitis suppurativa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acne inversa", "ectopic acne", "fox den disease", "hidradenitis suppurativa", "pyoderma fistulans significa", "verneuil disease"], "xref": ["DOID:2280", "EFO:1000710", "ICD10CM:L73.2", "MEDGEN:57993", "MESH:D017497", "Orphanet:387", "SCTID:59393003", "UMLS:C0162836", "Wikipedia:Hidradenitis_suppurativa", "icd11.foundation:1621794154"]}
{"category": ["biolink:Disease"], "description": "Under-production of pigment in the eyelid.", "id": "MONDO:0006561", "name": "Eyelid hypopigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11668", "ICD9:374.53", "MEDGEN:509852", "SCTID:68210006", "UMLS:C0155212"]}
{"category": ["biolink:Disease"], "description": "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.", "id": "MONDO:0006563", "name": "Inverted follicular keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inverted follicular keratosis"], "xref": ["DOID:6945", "EFO:1000717", "ICD9:264.8", "MEDGEN:87190", "NCIT:C9007", "SCTID:394728005", "UMLS:C0334019", "Wikipedia:Inverted_follicular_keratosis", "icd11.foundation:2109084329"]}
{"category": ["biolink:Disease"], "description": "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.", "id": "MONDO:0006564", "name": "Irritant dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["irritant contact dermatitis"], "xref": ["DOID:2772", "EFO:1000718", "ICD10CM:L24", "ICD9:692.9", "MEDGEN:56513", "MESH:D017453", "NCIT:C27151", "SCTID:110979008", "UMLS:C0162823"]}
{"category": ["biolink:Disease"], "description": "Dermatitis herpetiformis in children", "id": "MONDO:0006565", "name": "Juvenile dermatitis herpetiformis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:8507", "GARD:0024439", "ICD9:694.2", "MEDGEN:508884", "SCTID:5906000", "UMLS:C0152092"]}
{"category": ["biolink:Disease"], "description": "A skin disorder consisting of hypertrophy of the stratum corneum of the skin.", "id": "MONDO:0006566", "name": "Keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["keratoderma"], "xref": ["DOID:161", "EFO:1000720", "MEDGEN:9625", "MESH:D007642", "NCIT:C34745", "SCTID:254666005", "UMLS:C0022593"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.", "id": "MONDO:0006567", "name": "Kernicterus due to isoimmunization", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["kernicterus - due to isoimm.", "kernicterus due to isoimmunization of fetus or newborn", "kernicterus due to isoimmunization of foetus or newborn", "kernicterus related to isoimmunization"], "xref": ["DOID:12043", "GARD:0024440", "ICD10CM:P57.0", "ICD9:773.4", "MEDGEN:542597", "NCIT:C101270", "SCTID:359007", "UMLS:C0270204", "icd11.foundation:1111245443"]}
{"category": ["biolink:Disease"], "description": "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)", "id": "MONDO:0006569", "name": "Leg dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3142", "MEDGEN:9700", "MESH:D007868", "UMLS:C0023219"]}
{"category": ["biolink:Disease"], "description": "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.", "id": "MONDO:0006570", "name": "Lichen disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lichen"], "xref": ["DOID:8574", "EFO:1000724", "ICD9:697", "ICD9:697.8", "ICD9:697.9", "MEDGEN:507920", "SCTID:88996004", "UMLS:C0023643"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.", "id": "MONDO:0006571", "name": "Lichen nitidus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:8573", "ICD10CM:L44.1", "ICD9:697.1", "MEDGEN:58196", "MESH:D017513", "SCTID:41890004", "UMLS:C0162849", "Wikipedia:Lichen_nitidus", "icd11.foundation:525392264"]}
{"category": ["biolink:Disease"], "description": "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.", "id": "MONDO:0006572", "name": "Lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lichen ruber planus"], "xref": ["DOID:9201", "EFO:1000726", "ICD10CM:L43", "ICD10WHO:L43", "ICD9:697.0", "MEDGEN:9753", "MESH:D008010", "NCIT:C3189", "SCTID:4776004", "UMLS:C0023646", "icd11.foundation:1402978031"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.", "id": "MONDO:0006573", "name": "Lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lipodsystrophic syndrome", "lipodsystrophic syndromes", "lipodystrophy", "lipodystrophy (disease)"], "xref": ["DOID:811", "EFO:1000727", "GARD:0027051", "HP:0009125", "ICD9:272.6", "MEDGEN:6111", "MESH:D008060", "NANDO:1200858", "NANDO:2100147", "NANDO:2200404", "NCIT:C97093", "SCTID:71325002", "UMLS:C0023787", "Wikipedia:Lipodystrophy"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.", "id": "MONDO:0006574", "name": "Lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Launois-Bensaude syndrome", "Madelung disease", "Madelung's disease", "lipomatosis"], "xref": ["DOID:3153", "EFO:1000728", "ICD9:272.8", "MEDGEN:9781", "MESH:D008068", "NCIT:C3193", "SCTID:402693001", "UMLS:C0023801", "Wikipedia:Lipomatosis"]}
{"category": ["biolink:Disease"], "description": "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)", "id": "MONDO:0006576", "name": "Ludwig's angina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cellulitis (disease) of mouth floor", "mouth floor cellulitis (disease)"], "xref": ["DOID:4558", "ICD9:528.3", "MEDGEN:44205", "MESH:D008158", "SCTID:196542004", "UMLS:C0024081", "Wikipedia:Ludwig's_angina"]}
{"category": ["biolink:Disease"], "description": "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.", "id": "MONDO:0006577", "name": "Maxillary sinus cholesteatoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholesteatoma (disease) of maxillary sinus", "maxillary sinus cholesteatoma (disease)"], "xref": ["DOID:867", "MEDGEN:277346", "NCIT:C35868", "UMLS:C1334644"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.", "id": "MONDO:0006578", "name": "Mediastinal lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mediastinal lipomatosis"], "xref": ["DOID:3926", "EFO:1000732", "MEDGEN:233682", "NCIT:C27488", "UMLS:C1334662"]}
{"category": ["biolink:Disease"], "description": "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.", "id": "MONDO:0006579", "name": "Melanoacanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11684", "EFO:1000733", "MEDGEN:272110", "NCIT:C27548", "SCTID:394727000", "UMLS:C1321683", "Wikipedia:Melanocanthoma"]}
{"category": ["biolink:Disease"], "description": "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.", "id": "MONDO:0006580", "name": "Miliaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["heat rash", "prickly heat"], "xref": ["DOID:1382", "MEDGEN:44443", "MESH:D008883", "NCIT:C34820", "SCTID:63951004", "UMLS:C0026113", "Wikipedia:Miliaria", "icd11.foundation:204420062"]}
{"category": ["biolink:Disease"], "description": "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).", "id": "MONDO:0006581", "name": "Miliaria rubra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["prickly heat - miliaria", "sudamina"], "xref": ["DOID:11153", "EFO:1000735", "ICD10CM:L74.0", "ICD9:705.1", "MEDGEN:57902", "SCTID:44279002", "UMLS:C0162423", "icd11.foundation:1245016385"]}
{"category": ["biolink:Disease"], "description": "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.", "id": "MONDO:0006582", "name": "Mongolian spot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mongolian macula", "blue sacral spot", "congenital dermal melanocytosis"], "xref": ["DOID:4702", "MEDGEN:75591", "MESH:D049328", "NCIT:C3945", "SCTID:40467008", "UMLS:C0265985", "Wikipedia:Mongolian_spot"]}
{"category": ["biolink:Disease"], "description": "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.", "id": "MONDO:0006583", "name": "Necrobiosis lipoidica", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["necrobiosis lipoidica"], "xref": ["DOID:3486", "EFO:1000738", "GARD:0013040", "MEDGEN:45021", "MESH:D009335", "NCIT:C34840", "Orphanet:542592", "SCTID:9418005", "UMLS:C0027538", "Wikipedia:Necrobiosis_lipoidica", "icd11.foundation:655608138"]}
{"category": ["biolink:Disease"], "description": "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.", "id": "MONDO:0006585", "name": "Neurodermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lichen simplex Chronicus"], "xref": ["DOID:3309", "EFO:1000740", "ICD10CM:L28.0", "MEDGEN:45056", "MESH:D009450", "NCIT:C111963", "SCTID:267854005", "UMLS:C0027822"]}
{"category": ["biolink:Disease"], "description": "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.", "id": "MONDO:0006586", "name": "Neurotic excoriation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatitis factitia [artefacta]"], "xref": ["DOID:9165", "ICD9:300.19", "ICD9:698.4", "MEDGEN:697535", "SCTID:402736003", "UMLS:C1274184", "Wikipedia:Neurotic_excoriations"]}
{"category": ["biolink:Disease"], "description": "Contact dermatitis associated with allergens or irritants found in the workplace.", "id": "MONDO:0006589", "name": "Occupational dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["occupational dermatitis", "occupational eczema (disorder) [ambiguous]"], "xref": ["DOID:4404", "EFO:1000744", "ICD9:692.9", "MEDGEN:14449", "MESH:D009783", "NCIT:C34859", "SCTID:402587003", "UMLS:C0028796"]}
{"category": ["biolink:Disease"], "description": "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.", "id": "MONDO:0006590", "name": "Palmoplantar keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["palmoplantar keratoderma"], "xref": ["DOID:3390", "EFO:1000745", "ICD9:757.39", "MEDGEN:44017", "NCIT:C34748", "SCTID:706885006", "UMLS:C0022596"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the subcutaneous adipose tissue.", "id": "MONDO:0006591", "name": "Panniculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Subcutaneous adipose tissue", "Subcutaneous tissue", "inflammation of subcutaneous adipose tissue", "subcutaneous adipose tissue inflammation", "subcutis"], "xref": ["DOID:1526", "EFO:1000746", "ICD9:729.3", "ICD9:729.30", "ICD9:729.39", "MEDGEN:45301", "MESH:D015434", "NCIT:C33645", "SCTID:22125009", "UMLS:C0030326", "Wikipedia:Panniculitis", "icd11.foundation:1056888958"]}
{"category": ["biolink:Disease"], "description": "An inflammatory skin disorder of unknown etiology characterized by papules and plaques or scaly patches resembling psoriasis.", "id": "MONDO:0006592", "name": "Parapsoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9088", "EFO:1000747", "ICD10CM:L41", "ICD10WHO:L41", "ICD9:696.2", "MEDGEN:10579", "MESH:D010267", "NCIT:C3312", "SCTID:88233000", "UMLS:C0030491", "Wikipedia:Parapsoriasis"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.", "id": "MONDO:0006593", "name": "Pelvic lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pelvic lipomatosis", "pelvic lipomatosis (morphologic abnormality)"], "xref": ["DOID:3927", "EFO:1000748", "MEDGEN:96064", "MESH:C535549", "NCIT:C27486", "UMLS:C0406608"]}
{"category": ["biolink:Disease"], "description": "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus", "id": "MONDO:0006594", "name": "Pemphigus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:9182", "EFO:1000749", "GARD:0007352", "ICD10CM:L10", "ICD10WHO:L10", "ICD9:694.4", "MEDGEN:45369", "MESH:D010392", "NANDO:1200228", "NCIT:C34909", "SCTID:65172003", "UMLS:C0030807", "Wikipedia:Pemphigus", "icd11.foundation:191659986"]}
{"category": ["biolink:Disease"], "description": "Jaundice in perinates due to cellular damage of liver.", "id": "MONDO:0006595", "name": "Perinatal jaundice due to hepatocellular damage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:11452", "ICD9:774.4", "MEDGEN:510683", "SCTID:10877007", "UMLS:C0158976"]}
{"category": ["biolink:Disease"], "description": "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.", "id": "MONDO:0006596", "name": "Photoallergic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3818", "ICD9:692.72", "MEDGEN:56514", "MESH:D017454", "SCTID:111209006", "UMLS:C0162824", "Wikipedia:Photodermatitis"]}
{"category": ["biolink:Disease"], "description": "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.", "id": "MONDO:0006597", "name": "Photosensitivity disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder, photosensitivity", "disorders, photosensitivity", "photodermatitides", "photodermatitis", "photodermatosis", "photosensitivity disorder", "photosensitization"], "xref": ["DOID:3159", "EFO:1000752", "MEDGEN:19281", "MESH:D010787", "SCTID:22649008", "UMLS:C0031762"]}
{"category": ["biolink:Disease"], "description": "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.", "id": "MONDO:0006598", "name": "Phototoxic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["photosensitive dermatitis", "photosensitivity reaction"], "xref": ["DOID:4407", "EFO:1000753", "MEDGEN:58188", "MESH:D017484", "NCIT:C4816", "SCTID:53597009", "UMLS:C0162830", "Wikipedia:Photodermatitis"]}
{"category": ["biolink:Disease"], "description": "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.", "id": "MONDO:0006599", "name": "Physical urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060220", "EFO:1000754", "MEDGEN:1639813", "SCTID:402601007", "UMLS:C4551831"]}
{"category": ["biolink:Disease"], "description": "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.", "id": "MONDO:0006601", "name": "Pityriasis rosea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pityriasis circinata", "Pityriasis rosea"], "xref": ["DOID:8892", "EFO:1000756", "ICD10CM:L42", "ICD10WHO:L42", "ICD9:696.3", "MEDGEN:18492", "MESH:D017515", "NCIT:C26855", "SCTID:77252004", "UMLS:C0032026", "Wikipedia:Pityriasis_rosea", "icd11.foundation:919892859"]}
{"category": ["biolink:Disease"], "description": "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.", "id": "MONDO:0006602", "name": "Porokeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["porokeratosis", "porokeratosis (disease)"], "xref": ["DOID:3805", "EFO:1000757", "GARD:0018989", "HP:0200044", "ICD9:757.39", "MEDGEN:56518", "MESH:D017499", "MedDRA:10036175", "NCIT:C85019", "OMIMPS:175800", "Orphanet:79358", "SCTID:400080004", "UMLS:C0162839", "Wikipedia:Porokeratosis", "icd11.foundation:29524620"]}
{"category": ["biolink:Disease"], "description": "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.", "id": "MONDO:0006603", "name": "Reactive cutaneous fibrous lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2053", "EFO:1000759", "MEDGEN:235529", "NCIT:C27549", "UMLS:C1335666"]}
{"category": ["biolink:Disease"], "description": "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.", "id": "MONDO:0006604", "name": "Rosacea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acne rosacea"], "xref": ["DOID:8881", "EFO:1000760", "ICD10CM:L71", "ICD10WHO:L71", "ICD9:695.3", "MEDGEN:11269", "MESH:D012393", "NCIT:C97136", "SCTID:398909004", "UMLS:C0035854", "Wikipedia:Rosacea", "icd11.foundation:134161404"]}
{"category": ["biolink:Disease"], "description": "Dermotosis of scalp", "id": "MONDO:0006605", "name": "Scalp dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3136", "MEDGEN:19882", "MESH:D012536", "SCTID:402694007", "UMLS:C0036271"]}
{"category": ["biolink:Disease"], "description": "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.", "id": "MONDO:0006606", "name": "Scleredema adultorum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Buschke scleredema", "Buschke's scleredema", "Buschkes scleredema", "Diabeticorum, scleredema", "Diabeticorums, scleredema", "scleredema", "scleredema Diabeticorum", "scleredema Diabeticorum of Buschke", "scleredema Diabeticorums", "scleredema adultorum", "scleredema adultorum of Buschke", "scleredema, Buschke's", "scleredemas"], "xref": ["DOID:3140", "EFO:1000762", "GARD:0005975", "MEDGEN:11346", "MESH:D012592", "NCIT:C85057", "Orphanet:352763", "SCTID:95323007", "UMLS:C0036413"]}
{"category": ["biolink:Disease"], "description": "A disease involving the sebaceous gland.", "id": "MONDO:0006607", "name": "Sebaceous gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of sebaceous gland", "disease or disorder of sebaceous gland", "disorder of sebaceous gland", "sebaceous gland disease", "sebaceous gland disease or disorder"], "xref": ["DOID:9098", "EFO:1000763", "ICD9:706.1", "MEDGEN:48599", "MESH:D012625", "SCTID:3441005", "UMLS:C0036502"]}
{"category": ["biolink:Disease"], "description": "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.", "id": "MONDO:0006608", "name": "Seborrheic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cradle Cap", "seborrhea", "seborrheic dermatitis", "seborrheic dermatitis (disease)", "seborrheic eczema", "skin seborrheic"], "xref": ["DOID:8741", "EFO:1000764", "HP:0001051", "ICD10CM:L21", "ICD9:690.1", "ICD9:690.10", "ICD9:706.3", "MEDGEN:19912", "MESH:D012628", "NCIT:C111888", "UMLS:C0036508"]}
{"category": ["biolink:Disease"], "description": "Excessive shedding of dry scaly material from the scalp in humans.", "id": "MONDO:0006609", "name": "Seborrheic infantile dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["generalised seborrheic dermatitis of infants", "scalp seborrheic dermatitis (disease)", "seborrheic dermatitis (disease) of scalp"], "xref": ["DOID:8941", "ICD10CM:L21.1", "ICD9:690.11"]}
{"category": ["biolink:Disease"], "description": "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.", "id": "MONDO:0006610", "name": "Skin atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrophic skin", "atrophy of skin"], "xref": ["DOID:2733", "EFO:1000766", "ICD9:701.8", "MEDGEN:101793", "NCIT:C35163", "SCTID:400190005", "UMLS:C0151514", "Wikipedia:Steroid_atrophy"]}
{"category": ["biolink:Disease"], "description": "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.", "id": "MONDO:0006611", "name": "Skin sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cutaneous sarcoidosis", "sarcoidosis of zone of skin", "zone of skin sarcoidosis"], "xref": ["DOID:13402", "EFO:1000767", "GARD:0024444", "ICD10CM:D86.3", "MEDGEN:19872", "NCIT:C34996", "SCTID:55941000", "UMLS:C0036203", "Wikipedia:Cutaneous_manifestations_of_sarcoidosis"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.", "id": "MONDO:0006612", "name": "Steroid lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["steroid lipomatosis"], "xref": ["DOID:3925", "MEDGEN:234364", "NCIT:C27487", "UMLS:C1336506"]}
{"category": ["biolink:Disease"], "description": "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.", "id": "MONDO:0006613", "name": "Stromal corneal pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stromal corneal pigmentations"], "xref": ["DOID:12311", "ICD10CM:H18.06", "ICD9:371.12", "MEDGEN:509791", "SCTID:55031000", "UMLS:C0155105"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.", "id": "MONDO:0006614", "name": "Subcorneal pustular dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sneddon-Wilkinson disease", "pustulosis subcornealis", "subcorneal pustular dermatitis", "subcorneal pustular dermatosis"], "xref": ["DOID:8508", "EFO:1000771", "GARD:0013606", "ICD10CM:L13.1", "ICD9:694.1", "MEDGEN:108687", "MedDRA:10042342", "Orphanet:48377", "SCTID:25147002", "UMLS:C0600336", "icd11.foundation:1952122675"]}
{"category": ["biolink:Disease"], "description": "A disease involving the sweat gland.", "id": "MONDO:0006615", "name": "Sweat gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of sweat gland", "disease or disorder of sweat gland", "disorder of sweat gland", "sweat gland disease", "sweat gland disease or disorder"], "xref": ["DOID:1383", "ICD9:705", "ICD9:705.89", "ICD9:705.9", "MEDGEN:892310", "MESH:D013543", "SCTID:88232005", "UMLS:C0262643"]}
{"category": ["biolink:Disease"], "description": "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)", "id": "MONDO:0006616", "name": "Toxicodendron dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3819", "EFO:1000773", "ICD9:692.6", "MEDGEN:10820", "MESH:D011040", "SCTID:410049000", "UMLS:C0032342"]}
{"category": ["biolink:Disease"], "description": "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)", "id": "MONDO:0006617", "name": "Vesiculobullous skin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vesiculobullous skin disease"], "xref": ["DOID:2731", "EFO:1000774", "MEDGEN:20778", "MESH:D012872", "UMLS:C0037275"]}
{"category": ["biolink:Disease"], "description": "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.", "id": "MONDO:0006618", "name": "Vibratory urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1554", "EFO:1000775", "ICD10CM:L50.4", "ICD9:708.4", "MEDGEN:510413", "SCTID:51247001", "UMLS:C0157743", "Wikipedia:Urticaria#Vibratory_angioedema"]}
{"category": ["biolink:Disease"], "description": "A virus-induced exanthem", "id": "MONDO:0006619", "name": "Viral exanthem", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8672", "EFO:1000776", "ICD9:057.8", "ICD9:057.9", "MEDGEN:509133", "SCTID:49882001", "UMLS:C0153062"]}
{"category": ["biolink:Disease"], "description": "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.", "id": "MONDO:0006620", "name": "Vulva fibroepithelial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroepithelial polyp of the vulva", "fibroepithelial polyp of vulva", "mammalian vulva skin tag", "skin tag of mammalian vulva", "vulval fibroepithelial polyp", "vulvar fibroepithelial polyp", "vulvar fibroepithelial stromal polyp"], "xref": ["DOID:8255", "MEDGEN:237054", "NCIT:C6857", "UMLS:C1336978"]}
{"category": ["biolink:Disease"], "description": "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.", "id": "MONDO:0006621", "name": "Vulvar inverted follicular keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inverted follicular keratosis of mammalian vulva", "mammalian vulva inverted follicular keratosis"], "xref": ["DOID:6943", "GARD:0024445", "MEDGEN:274414", "NCIT:C40291", "UMLS:C1520084"]}
{"category": ["biolink:Disease"], "description": "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.", "id": "MONDO:0006622", "name": "Vulvar seborrheic keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mammalian vulva seborrheic keratosis", "seborrheic keratosis of mammalian vulva", "seborrheic keratosis of the vulva", "seborrheic keratosis of vulva"], "xref": ["DOID:6944", "GARD:0024446", "MEDGEN:237055", "NCIT:C6375", "UMLS:C1336981"]}
{"category": ["biolink:Disease"], "description": "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.", "id": "MONDO:0006624", "name": "Overactive bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["overactive bladder", "overactive bladder (disease)"], "xref": ["DOID:0070355", "EFO:1000781", "HP:0000012", "ICD10CM:N32.81", "ICD9:596.51", "MEDGEN:168058", "MESH:D053201", "MedDRA:10020853", "SCTID:236633002", "UMLS:C0878773", "icd11.foundation:1118102209"]}
{"category": ["biolink:Disease"], "description": "Multiple symptoms associated with reduced oxygen at high altitude.", "id": "MONDO:0006625", "name": "Altitude sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000782", "MEDGEN:229", "MESH:D000532", "UMLS:C0002351", "Wikipedia:Altitude_sickness", "icd11.foundation:987050905"]}
{"category": ["biolink:Disease"], "description": "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.", "id": "MONDO:0006626", "name": "Diabetic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9743", "EFO:1000783", "ICD9:250.6", "MEDGEN:8353", "MESH:D003929", "NCIT:C26748", "SCTID:230572002", "UMLS:C0011882"]}
{"category": ["biolink:Disease"], "description": "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.", "id": "MONDO:0006629", "name": "Osteoarthritis, hip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hip osteoarthritis"], "xref": ["EFO:1000786", "MEDGEN:14530", "MESH:D015207", "NCIT:C34876", "UMLS:C0029410"]}
{"category": ["biolink:Disease"], "description": "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).", "id": "MONDO:0006630", "name": "Osteoarthritis, spine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000787", "MEDGEN:389941", "MESH:D055013", "SCTID:8847002", "UMLS:C2350242"]}
{"category": ["biolink:Disease"], "description": "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.", "id": "MONDO:0006631", "name": "Osteoarthritis, toe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:592722", "UMLS:C0409929"]}
{"category": ["biolink:Disease"], "description": "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).", "id": "MONDO:0006632", "name": "Osteoarthritis, hand", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000789", "MEDGEN:472992", "UMLS:C0263746"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the gallbladder in the absence of gallstones.", "id": "MONDO:0006633", "name": "Acalculous cholecystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2828", "EFO:1000790", "MEDGEN:82762", "MESH:D042101", "MedDRA:10000347", "NCIT:C35578", "SCTID:19968009", "UMLS:C0267841"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.", "id": "MONDO:0006634", "name": "Pituitary gland acidophil adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acidophil adenoma", "eosinophil adenoma", "pituitary gland acidophil adenoma"], "xref": ["DOID:5392", "EFO:1000791", "GARD:0024448", "ICDO:8280/0", "MEDGEN:1748", "MESH:D000239", "NCIT:C6780", "UMLS:C0001433"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus acinetobacter.", "id": "MONDO:0006635", "name": "Acinetobacter infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Acinetobacter caused disease or disorder", "Acinetobacter disease or disorder"], "xref": ["DOID:3091", "EFO:1000792", "MEDGEN:1299", "MESH:D000151", "UMLS:C0001139"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus actinobacillus.", "id": "MONDO:0006636", "name": "Actinobacillus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Actinobacillus caused disease or disorder", "Actinobacillus disease or disorder"], "xref": ["MESH:D000189"]}
{"category": ["biolink:Disease"], "description": "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.", "id": "MONDO:0006637", "name": "Acute kidney tubular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute renal failure with lesion of tubular necrosis", "acute renal failure with tubular necrosis", "acute tubular necrosis"], "xref": ["DOID:12556", "EFO:1000794", "HP:0008682", "ICD10CM:N17.0", "ICD9:584.5", "MEDGEN:7213", "MESH:D007683", "MedDRA:10023441", "NCIT:C34749", "SCTID:35455006", "UMLS:C0022672"]}
{"category": ["biolink:Disease"], "description": "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.", "id": "MONDO:0006638", "name": "Acute retinal necrosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:3611", "EFO:1000795", "GARD:0024449", "MEDGEN:48434", "MESH:D015882", "SCTID:231986000", "UMLS:C0035319"]}
{"category": ["biolink:Disease"], "description": "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.", "id": "MONDO:0006639", "name": "Adrenal cortex carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACC", "adenocarcinoma, adrenocortical, malignant", "adrenal cortex adenocarcinoma", "adrenal cortex carcinoma", "adrenal cortical adenocarcinoma", "adrenal cortical carcinoma", "adrenal cortical carcinoma (morphologic abnormality)", "adrenocortical carcinoma", "adrenocortical carcinoma (disease)", "carcinoma of adrenal cortex", "carcinoma of the adrenal cortex", "carcinoma, adrenocortical, malignant", "cortical cell carcinoma"], "xref": ["DOID:3948", "DOID:3959", "DOID:660", "EFO:1000796", "GARD:0000558", "HP:0006744", "ICDO:8370/3", "MEDGEN:104917", "MedDRA:10001388", "NANDO:2200073", "NCIT:C9325", "NORD:733", "ONCOTREE:ACC", "Orphanet:1501", "SCTID:255035007", "UMLS:C0206686", "icd11.foundation:114092945"]}
{"category": ["biolink:Disease"], "description": "Excess production of adrenal cortex hormones.", "id": "MONDO:0006640", "name": "Adrenal gland hyperfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adrenal gland hyperfunction", "hyperadrenalism", "hypercortisolemia"], "xref": ["DOID:3947", "EFO:1000797", "HP:0003118", "ICD9:255.3", "MEDGEN:7899", "MESH:D000308", "SCTID:275437005", "UMLS:C0001622"]}
{"category": ["biolink:Disease"], "description": "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.", "id": "MONDO:0006641", "name": "Afferent loop syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8438", "EFO:1000799", "ICD9:537.89", "MEDGEN:161", "MESH:D000343", "MedDRA:10056245", "SCTID:20813000", "UMLS:C0001727"]}
{"category": ["biolink:Disease"], "description": "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)", "id": "MONDO:0006642", "name": "Alcohol withdrawal delirium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000800", "ICD9:291.0", "MEDGEN:1398", "MESH:D000430", "MedDRA:10001610", "SCTID:8635005", "UMLS:C0001957"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.", "id": "MONDO:0006643", "name": "Alcoholic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["alcoholic cardiomyopathy"], "xref": ["DOID:12935", "EFO:1000801", "GARD:0024450", "ICD10CM:I42.6", "ICD9:425.5", "MEDGEN:2879", "MESH:D002310", "MedDRA:10001616", "NCIT:C53653", "SCTID:83521008", "UMLS:C0007192"]}
{"category": ["biolink:Disease"], "description": "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.", "id": "MONDO:0006644", "name": "Alcoholic liver cirrhosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcoholic cirrhosis", "alcoholic cirrhosis of liver"], "xref": ["CSP:1754-7677", "DOID:14018", "EFO:1000802", "ICD10CM:K70.3", "ICD9:571.2", "MEDGEN:6125", "MESH:D008104", "MedDRA:10001618", "NCIT:C34782", "SCTID:419728003", "UMLS:C0023891"]}
{"category": ["biolink:Disease"], "description": "Any polyneuropathy where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors.", "id": "MONDO:0006645", "name": "Alcoholic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14183", "EFO:1000803", "ICD10CM:G62.1", "ICD9:357.5", "MEDGEN:39087", "MESH:D020269", "NCIT:C26926", "SCTID:7916009", "UMLS:C0085677", "icd11.foundation:597341977"]}
{"category": ["biolink:Disease"], "description": "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.", "id": "MONDO:0006646", "name": "Angioleiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioleiomyoma", "angiomyoma", "angiomyoma (morphologic abnormality)", "vascular leiomyoma"], "xref": ["DOID:4265", "EFO:1000084", "ICDO:8894/0", "MEDGEN:60202", "MESH:D018229", "NCIT:C3747", "UMLS:C0206653"]}
{"category": ["biolink:Disease"], "description": "Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.", "id": "MONDO:0006647", "name": "Anterior cerebral artery infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3528", "EFO:1000807", "MEDGEN:148402", "MESH:D020243", "UMLS:C0751843"]}
{"category": ["biolink:Disease"], "description": "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.", "id": "MONDO:0006648", "name": "Anterior compartment of tibia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:3933", "GARD:0024452", "MEDGEN:1569", "MESH:D000868", "SCTID:12694001", "UMLS:C0003152"]}
{"category": ["biolink:Disease"], "description": "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.", "id": "MONDO:0006649", "name": "Anterior ischemic optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ischaemic optic neuropathy", "ischemic optic neuropathy"], "xref": ["DOID:12010", "EFO:1000809", "GARD:0009790", "ICD9:377.41", "MEDGEN:199716", "MESH:D018917", "MedDRA:10068250", "SCTID:404659001", "UMLS:C0751711", "icd11.foundation:632323575"]}
{"category": ["biolink:Disease"], "description": "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)", "id": "MONDO:0006650", "name": "Anterior spinal artery syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anterior spinal artery syndromic disease", "syndromic disease of anterior spinal artery"], "xref": ["DOID:6712", "EFO:1000810", "ICD9:433.80", "MEDGEN:65125", "MESH:D020759", "MedDRA:10002703", "SCTID:2972007", "UMLS:C0221069"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the iris and anterior chamber of the eye.", "id": "MONDO:0006651", "name": "Anterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["anterior uveitis", "anterior uveitis (disease)"], "xref": ["CSP:1114-9593", "DOID:1407", "EFO:1000811", "HP:0012122", "MEDGEN:22595", "MESH:D014606", "MedDRA:10002709", "NCIT:C35109", "Orphanet:280886", "SCTID:410692006", "UMLS:C0042165", "icd11.foundation:908233081"]}
{"category": ["biolink:Disease"], "description": "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.", "id": "MONDO:0006652", "name": "Anterolateral myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anterolateral myocardial infarction"], "xref": ["DOID:5845", "EFO:1000812", "MEDGEN:78086", "MESH:D056988", "MedDRA:10068109", "UMLS:C0262564", "icd11.foundation:687792216"]}
{"category": ["biolink:Disease"], "description": "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.", "id": "MONDO:0006653", "name": "Anthracosilicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["CSP:2596-4484", "DOID:10324", "EFO:1000813", "GARD:0024453", "MEDGEN:1958", "MESH:D000874", "MedDRA:10050363", "NCIT:C34389", "SCTID:33548005", "UMLS:C0003164"]}
{"category": ["biolink:Disease"], "description": "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.", "id": "MONDO:0006654", "name": "Anthracosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["coal dust pneumoconiosis", "coal miner's pneumoconiosis", "coal workers' pneumoconiosis", "pneumoconiosis from coal dust"], "xref": ["DOID:10327", "EFO:1000814", "GARD:0024454", "ICD10CM:J60", "ICD9:500", "MEDGEN:8107", "MESH:D055008", "MedDRA:10073051", "NCIT:C34390", "SCTID:29422001", "UMLS:C0003165"]}
{"category": ["biolink:Disease"], "description": "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.", "id": "MONDO:0006655", "name": "Aortic valve prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5232", "MEDGEN:1619", "MESH:D001023", "MedDRA:10057454", "UMLS:C0003505"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.", "id": "MONDO:0006656", "name": "Aortitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["aorta inflammation", "inflammation of aorta"], "xref": ["DOID:519", "EFO:1000816", "GARD:0024455", "MEDGEN:8154", "MESH:D001025", "MedDRA:10002921", "NANDO:1200251", "NANDO:2200423", "NCIT:C97085", "SCTID:70933002", "UMLS:C0003509"]}
{"category": ["biolink:Disease"], "description": "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.", "id": "MONDO:0006658", "name": "Arteriolosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arteriolosclerosis (morphologic abnormality)"], "xref": ["DOID:5162", "EFO:1000819", "MEDGEN:209223", "MESH:D050379", "NCIT:C35543", "UMLS:C0878486"]}
{"category": ["biolink:Disease"], "description": "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.", "id": "MONDO:0006659", "name": "Arteriosclerosis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arteriosclerosis obliterans (disorder) [ambiguous]"], "xref": ["DOID:5160", "EFO:1000820", "ICD9:440.8", "MEDGEN:13915", "MESH:D001162", "MedDRA:10065418", "SCTID:361133006", "UMLS:C0003851"]}
{"category": ["biolink:Disease"], "description": "A localized vasculitis resulting from deposition of antibody-antigen complexes.", "id": "MONDO:0006660", "name": "Arthus reaction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arthus phenomenon", "arthus reaction", "arthus reaction (function)"], "xref": ["DOID:1556", "EFO:1000821", "ICD9:708.8", "ICD9:995.21", "MEDGEN:2458", "MESH:D001183", "MedDRA:10003420", "NCIT:C34400", "SCTID:402413008", "UMLS:C0003907"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.", "id": "MONDO:0006662", "name": "Aseptic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute aseptic meningitis", "aseptic meningitis"], "xref": ["DOID:12157", "EFO:1000823", "ICD10CM:G03.0", "MEDGEN:7534", "MESH:D008582", "MedDRA:10003458", "NCIT:C118299", "SCTID:301770000", "UMLS:C0025290", "icd11.foundation:453360366"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.", "id": "MONDO:0006663", "name": "Perinatal asphyxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIE", "asphyxia neonatorum", "birth asphyxia", "birth depression", "fetal asphyxia", "foetal asphyxia", "hypoxia neonatorum", "hypoxic-ischemic encephalopathy", "intrapartum asphyxia", "perinatal asphyxia", "perinatal depression", "perinatal hypoxia"], "xref": ["DOID:11088", "EFO:1000824", "GARD:0019875", "ICD9:768.9", "MEDGEN:2469", "MESH:D001238", "NCIT:C116313", "Orphanet:137577", "SCTID:28314004", "UMLS:C0004045", "icd11.foundation:1281282034"]}
{"category": ["biolink:Disease"], "description": "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.", "id": "MONDO:0006664", "name": "Atrial septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASD", "Atrial Septal Defects", "atrial septal defect", "atrial septum defect", "auricular septal defect", "congenital atrial septal defect", "interatrial septal defect", "interauricular communication"], "xref": ["DOID:1882", "EFO:1000825", "ICD10CM:Q21.1", "MEDGEN:6753", "MESH:D006344", "MedDRA:10003664", "MedDRA:10019308", "MedDRA:10068864", "NANDO:2100085", "NCIT:C84473", "NORD:820", "OMIMPS:108800", "Orphanet:1478", "SCTID:253366007", "UMLS:C0018817", "icd11.foundation:1285985084"]}
{"category": ["biolink:Disease"], "description": "Atrophic gastritis that is persistent and long-standing.", "id": "MONDO:0006665", "name": "Chronic atrophic gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Gastritides, atrophic", "atrophic Gastritides", "atrophic gastritis", "gastric atrophy"], "xref": ["DOID:8929", "EFO:1000826", "ICD10CM:K29.4", "ICD9:535.1", "ICD9:535.10", "ICD9:535.11", "MEDGEN:42157", "MESH:D005757", "MedDRA:10003685", "NCIT:C7405", "SCTID:84568007", "UMLS:C0017154"]}
{"category": ["biolink:Disease"], "description": "Tissue degeneration and diminished size of the thyroid gland.", "id": "MONDO:0006666", "name": "Atrophy of thyroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["thyroid atrophy", "thyroid gland atrophy"], "xref": ["EFO:1000827", "ICD9:246.8", "MEDGEN:453383", "MedDRA:10043693", "NCIT:C26942", "SCTID:190309006", "UMLS:C2981141", "icd11.foundation:1827568994"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the conjunctiva caused by a variety of bacterial agents.", "id": "MONDO:0006668", "name": "Bacterial conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bacteria caused conjunctival disease", "Bacteria conjunctival disease"], "xref": ["DOID:9700", "EFO:1000829", "ICD9:372.03", "MEDGEN:3209", "MESH:D003234", "MedDRA:10061784", "NCIT:C53656", "SCTID:243321006", "UMLS:C0009768", "icd11.foundation:902481358"]}
{"category": ["biolink:Disease"], "description": "Endocarditis that is caused by an infection with a bacterial agent.", "id": "MONDO:0006669", "name": "Bacterial endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Bacteria caused endocarditis (disease)", "Bacteria endocarditis (disease)", "bacterial endocarditis", "bacterial endocarditis (disease)"], "xref": ["EFO:1000830", "GARD:0024456", "HP:0006689", "MEDGEN:41779", "MESH:D004697", "MedDRA:10004019", "NCIT:C128359", "SCTID:301183007", "UMLS:C0014121", "icd11.foundation:1924438986"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.", "id": "MONDO:0006670", "name": "Bacterial meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Bacteria caused infectious meningitis", "Bacteria infectious meningitis"], "xref": ["DOID:9470", "EFO:1000831", "GARD:0005881", "ICD9:320", "ICD9:320.7", "ICD9:320.89", "ICD9:320.9", "MEDGEN:39048", "MESH:D016920", "MedDRA:10004049", "NCIT:C118297", "SCTID:95883001", "UMLS:C0085437", "icd11.foundation:684930313"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus bacteroides.", "id": "MONDO:0006671", "name": "Bacteroides infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bacteroides caused disease or disorder", "Bacteroides disease or disorder", "infection due to Bacteroides"], "xref": ["EFO:1000832", "ICD9:041.84", "MEDGEN:2164", "MESH:D001442", "SCTID:2918000", "UMLS:C0004669"]}
{"category": ["biolink:Disease"], "description": "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.", "id": "MONDO:0006672", "name": "Balanitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["balanitis", "glans penis inflammation", "inflammation of glans penis"], "xref": ["DOID:13033", "EFO:1000833", "ICD10CM:N48.1", "ICD10WHO:N48.1", "MEDGEN:14020", "MESH:D001446", "MedDRA:10004073", "NCIT:C26705", "SCTID:44882003", "UMLS:C0004690"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.", "id": "MONDO:0006673", "name": "Pituitary gland basophil adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basophilic adenoma", "basophilic pituitary gland adenoma", "mucoid cell adenoma", "pituitary basophilic adenoma"], "xref": ["DOID:4542", "EFO:1000834", "GARD:0024457", "ICDO:8300/0", "MEDGEN:1746", "MESH:D000237", "NCIT:C2856", "UMLS:C0001431"]}
{"category": ["biolink:Disease"], "description": "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.", "id": "MONDO:0006676", "name": "Beriberi", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Beri Beri", "thiamine deficiency", "vitamin B1 deficiency"], "xref": ["DOID:0070313", "DOID:13725", "EFO:1000837", "ICD10CM:E51.1", "ICD9:265.0", "MEDGEN:543", "MESH:D001602", "MedDRA:10004482", "NCIT:C34418", "SCTID:36656008", "UMLS:C0005122", "icd11.foundation:632832064"]}
{"category": ["biolink:Disease"], "description": "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.", "id": "MONDO:0006677", "name": "Bile reflux", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12237", "EFO:1000838", "MEDGEN:2243", "MESH:D001655", "UMLS:C0005403"]}
{"category": ["biolink:Disease"], "description": "A concretion in the urinary bladder.", "id": "MONDO:0006678", "name": "Bladder calculus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11355", "EFO:1000839", "ICD9:594.1", "MEDGEN:14149", "MESH:D001744", "MedDRA:10005001", "SCTID:70650003", "UMLS:C0005683"]}
{"category": ["biolink:Disease"], "description": "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.", "id": "MONDO:0006679", "name": "Bladder neck obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obstruction of bladder neck or vesicourethral orifice"], "xref": ["DOID:13948", "EFO:1000840", "ICD10CM:N32.0", "ICD9:596.0", "MEDGEN:14151", "MESH:D001748", "MedDRA:10005053", "SCTID:399072004", "UMLS:C0005694", "icd11.foundation:441939472"]}
{"category": ["biolink:Disease"], "description": "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.", "id": "MONDO:0006680", "name": "Blue nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blue Nevus of skin", "blue Nevus of the skin", "blue nevus", "blue skin Nevus"], "xref": ["EFO:1000841", "ICDO:8780/0", "MEDGEN:104930", "MESH:D018329", "MedDRA:10062788", "NCIT:C3803", "SCTID:254806009", "UMLS:C0206736"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus borrelia.", "id": "MONDO:0006681", "name": "Borrelia infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Borrelia caused disease or disorder", "Borrelia disease or disorder"], "xref": ["EFO:1000842", "MEDGEN:2325", "MESH:D001899", "MedDRA:10061591", "UMLS:C0006035"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.", "id": "MONDO:0006682", "name": "Brachial plexus neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brachial nerve plexus neuritis", "neuritis of brachial nerve plexus"], "xref": ["DOID:3689", "EFO:1000843", "GARD:0024458", "ICD9:723.4", "MEDGEN:113170", "MESH:D020968", "MedDRA:10073002", "NCIT:C84600", "SCTID:72893007", "UMLS:C0221759"]}
{"category": ["biolink:Disease"], "description": "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.", "id": "MONDO:0006683", "name": "Brachial plexus neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["brachial nerve plexus peripheral neuropathy", "brachial plexopathy", "peripheral neuropathy of brachial nerve plexus"], "xref": ["DOID:3690", "EFO:1000844", "GARD:0024459", "ICD9:353.0", "MEDGEN:148580", "MESH:D020516", "NCIT:C27194", "SCTID:3548001", "UMLS:C0700251"]}
{"category": ["biolink:Disease"], "description": "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)", "id": "MONDO:0006684", "name": "Brain edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4724", "EFO:1000845", "ICD9:348.5", "MEDGEN:2337", "MESH:D001929", "MedDRA:10006121", "SCTID:2032001", "UMLS:C0006114"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.", "id": "MONDO:0006685", "name": "Brain hypoxia - ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["MEDGEN:199862", "MESH:D020925", "UMLS:C0752308"]}
{"category": ["biolink:Disease"], "description": "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.", "id": "MONDO:0006686", "name": "Brain stem infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain infarction of brainstem", "brainstem brain infarction"], "xref": ["DOID:3523", "EFO:1000847", "ICD9:434.91", "MEDGEN:101068", "MESH:D020526", "SCTID:95457000", "UMLS:C0521542"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.", "id": "MONDO:0006687", "name": "Burning mouth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMS", "Orodynia", "Stomatopyrosis", "oral dysesthesia", "stomatodynia"], "xref": ["DOID:4331", "EFO:1000850", "GARD:0005974", "MEDGEN:14254", "MESH:D002054", "MedDRA:10068065", "NCIT:C62545", "Orphanet:353253", "SCTID:399165002", "UMLS:C0006430", "icd11.foundation:618998878"]}
{"category": ["biolink:Disease"], "description": "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.", "id": "MONDO:0006688", "name": "Byssinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cotton dust pneumoconiosis", "pneumoconiosis from cotton dust"], "xref": ["DOID:10323", "EFO:1000851", "GARD:0005976", "ICD10CM:J66.0", "ICD9:504", "MEDGEN:2769", "MESH:D002095", "MedDRA:10006822", "NCIT:C84605", "SCTID:13151001", "UMLS:C0006542"]}
{"category": ["biolink:Disease"], "description": "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.", "id": "MONDO:0006690", "name": "Carotid artery thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3410", "EFO:1000853", "ICD9:433.10", "MEDGEN:40119", "MESH:D002341", "MedDRA:10007688", "SCTID:86003009", "UMLS:C0007274"]}
{"category": ["biolink:Disease"], "description": "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.", "id": "MONDO:0006692", "name": "Central pontine myelinolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:636", "EFO:1000857", "ICD10CM:G37.2", "ICD9:341.8", "MEDGEN:64511", "MESH:D017590", "MedDRA:10007968", "NCIT:C84623", "SCTID:6807001", "UMLS:C0206083", "icd11.foundation:558060012"]}
{"category": ["biolink:Disease"], "description": "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.", "id": "MONDO:0006693", "name": "Cerebral arterial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3527", "EFO:1000859", "MEDGEN:2963", "MESH:D002539", "UMLS:C0007774"]}
{"category": ["biolink:Disease"], "description": "Atherosclerosis of the cerebral vasculature.", "id": "MONDO:0006694", "name": "Cerebral atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebral atherosclerosis"], "xref": ["DOID:12720", "EFO:1000860", "ICD10CM:I67.2", "ICD9:437.0", "MEDGEN:40189", "MedDRA:1008095", "NCIT:C34459", "SCTID:55382008", "UMLS:C0007775", "icd11.foundation:1710003414"]}
{"category": ["biolink:Disease"], "description": "Loss or destruction of the epithelial lining of the uterine cervix.", "id": "MONDO:0006696", "name": "Cervix erosion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3456", "MEDGEN:541802", "MESH:D002579", "MedDRA:10015128", "SCTID:61253004", "UMLS:C0269189"]}
{"category": ["biolink:Disease"], "description": "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.", "id": "MONDO:0006698", "name": "Cholecystolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11151", "EFO:1000864", "MEDGEN:215268", "MESH:D041761", "MedDRA:10049890", "UMLS:C0947622"]}
{"category": ["biolink:Disease"], "description": "Presence or formation of gallstones in the common bile duct.", "id": "MONDO:0006699", "name": "Choledocholithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11755", "EFO:1000865", "MEDGEN:148784", "MESH:D042883", "MedDRA:10049891", "UMLS:C0701818"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the optic choroid.", "id": "MONDO:0006700", "name": "Choroid cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of optic choroid", "malignant choroid neoplasm", "malignant choroid tumor", "malignant choroid tumour", "malignant neoplasm of choroid", "malignant neoplasm of optic choroid", "malignant neoplasm of the choroid", "malignant optic choroid neoplasm", "malignant tumor of choroid", "malignant tumor of the choroid", "malignant tumour of choroid", "malignant tumour of the choroid", "optic choroid cancer"], "xref": ["DOID:12759", "ICD10CM:C69.3", "ICD9:190.6", "MEDGEN:57794", "MESH:D002830", "MedDRA:10057405", "NCIT:C3566", "SCTID:363466008", "UMLS:C0153630"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.", "id": "MONDO:0006701", "name": "Chromophobe adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chromophobe adenoma of pituitary gland", "chromophobe adenoma of the pituitary gland", "pituitary chromophobe adenoma", "pituitary gland chromophobe adenoma"], "xref": ["DOID:3828", "EFO:1000867", "GARD:0024460", "ICDO:8270/0", "MEDGEN:1747", "MESH:D000238", "NCIT:C2857", "UMLS:C0001432"]}
{"category": ["biolink:Disease"], "description": "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.", "id": "MONDO:0006702", "name": "Chronic inflammatory demyelinating polyradiculoneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CIDP", "chronic inflammatory demyelinating polyneuropathy", "chronic inflammatory demyelinating polyradiculoneuropathy", "chronic relapsing polyneuropathy"], "xref": ["DOID:5213", "EFO:1000868", "GARD:0006102", "ICD10CM:G61.81", "ICD9:357.81", "ICD9:357.89", "MEDGEN:98292", "MESH:D020277", "MedDRA:10057645", "NANDO:1200030", "NANDO:2100251", "NANDO:2200905", "NCIT:C84636", "Orphanet:2932", "SCTID:128209004", "UMLS:C0393819", "icd11.foundation:224318510"]}
{"category": ["biolink:Disease"], "description": "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.", "id": "MONDO:0006704", "name": "Cns demyelinating autoimmune disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000870", "MEDGEN:199756", "MESH:D020278", "UMLS:C0751873"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family BACTEROIDACEAE.", "id": "MONDO:0006705", "name": "Bacteroidaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bacteroidaceae caused disease or disorder", "Bacteroidaceae disease or disorder"], "xref": ["MEDGEN:39037", "MESH:D016866", "UMLS:C0085392"]}
{"category": ["biolink:Disease"], "description": "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.", "id": "MONDO:0006706", "name": "Bifidobacteriales infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bifidobacteriales caused disease or disorder", "Bifidobacteriales disease or disorder"], "xref": ["MEDGEN:209748", "MESH:D039941", "UMLS:C1136339"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family Desulfovibrionaceae.", "id": "MONDO:0006708", "name": "Desulfovibrionaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Desulfovibrionaceae caused disease or disorder", "Desulfovibrionaceae disease or disorder"], "xref": ["MESH:D045824"]}
{"category": ["biolink:Disease"], "description": "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.", "id": "MONDO:0006709", "name": "Common bile duct neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["common bile duct neoplasm (disease)", "common bile duct tumor", "common bile duct tumour", "neoplasm of common bile duct", "tumor of common bile duct", "tumour of common bile duct"], "xref": ["DOID:4608", "MEDGEN:3178", "MESH:D003138", "SCTID:126857009", "UMLS:C0009442"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)", "id": "MONDO:0006710", "name": "Complex partial epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12382", "EFO:1000877", "ICD9:345.40", "MEDGEN:43169", "MESH:D017029", "SCTID:407675009", "UMLS:C0085417"]}
{"category": ["biolink:Disease"], "description": "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.", "id": "MONDO:0006711", "name": "Constrictive pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["constrictive pericarditis", "constrictive pericarditis (disease)"], "xref": ["DOID:11481", "EFO:1000878", "HP:0002563", "ICD9:423.2", "MEDGEN:18378", "MESH:D010494", "MedDRA:10010783", "NANDO:2100064", "NANDO:2200239", "NCIT:C78246", "SCTID:85598007", "UMLS:C0031048", "icd11.foundation:1722995229"]}
{"category": ["biolink:Disease"], "description": "Hazy, swollen cornea.", "id": "MONDO:0006712", "name": "Corneal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11030", "EFO:1000879", "ICD9:371.2", "ICD9:371.20", "MEDGEN:3242", "MESH:D015715", "MedDRA:10011007", "SCTID:27194006", "UMLS:C0010037"]}
{"category": ["biolink:Disease"], "description": "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.", "id": "MONDO:0006713", "name": "Corneal neovascularization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11382", "EFO:1000880", "ICD10CM:H16.4", "ICD9:370.6", "ICD9:370.60", "MEDGEN:43103", "MESH:D016510", "MedDRA:10011031", "SCTID:19161004", "UMLS:C0085109", "icd11.foundation:2077068570"]}
{"category": ["biolink:Disease"], "description": "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.", "id": "MONDO:0006714", "name": "Coronary aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["aneurysm of coronary vessels", "aneurysmal lesion of coronary artery", "arteriovenous aneurysm of coronary vessels"], "xref": ["DOID:3362", "EFO:1000881", "HP:0030882", "ICD9:414.11", "MEDGEN:3622", "MESH:D003323", "MedDRA:10002348", "SCTID:50570003", "UMLS:C0010051", "icd11.foundation:777924269"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the coronary artery lumen diameter.", "id": "MONDO:0006715", "name": "Coronary stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4248", "MEDGEN:66859", "MESH:D023921", "MedDRA:10011089", "NANDO:2200246", "SCTID:233970002", "UMLS:C0242231"]}
{"category": ["biolink:Disease"], "description": "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.", "id": "MONDO:0006716", "name": "Coronary thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["coronary vessel thrombotic disease", "thrombotic disease of coronary vessel"], "xref": ["DOID:11847", "EFO:1000883", "ICD10CM:I22", "MEDGEN:3625", "MESH:D003328", "MedDRA:10011108", "SCTID:398274000", "UMLS:C0010072"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.", "id": "MONDO:0006717", "name": "Cutaneous fibrous histiocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign cutaneous fibrous histiocytoma", "benign fibrous cutaneous histiocytoma", "benign fibrous histiocytoma of skin", "benign fibrous histiocytoma of the skin", "benign skin fibrous histiocytoma", "cutaneous fibrous histiocytoma", "dermatofibroma", "dermatofibroma, no ICD-O subtype", "dermatofibroma, no ICD-O subtype (morphologic abnormality)", "fibrohistiocytic neoplasm", "fibrous histiocytoma of skin", "fibrous histiocytoma of the skin", "sclerosing angioma (morphologic abnormality)"], "xref": ["DOID:4418", "EFO:1000885", "GARD:0024461", "ICDO:8832/0", "MEDGEN:1930", "NCIT:C6801", "ONCOTREE:DF", "SCTID:448015002", "UMLS:C0002991"]}
{"category": ["biolink:Disease"], "description": "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)", "id": "MONDO:0006718", "name": "Cutaneous syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Treponema pallidum caused skin disease caused by bacterial infection", "Treponema pallidum skin disease caused by bacterial infection"], "xref": ["EFO:1000887", "GARD:0027763", "MEDGEN:52623", "MESH:D013591", "UMLS:C0039132"]}
{"category": ["biolink:Disease"], "description": "Neoplasms containing cyst-like formations or producing mucin or serum.", "id": "MONDO:0006720", "name": "Cystic, mucinous, and serous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000889", "MEDGEN:61678", "MESH:D018297", "UMLS:C0206767"]}
{"category": ["biolink:Disease"], "description": "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.", "id": "MONDO:0006721", "name": "De quervain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["radial styloid tenosynovitis"], "xref": ["DOID:14107", "EFO:1000891", "ICD10CM:M65.4", "ICD9:727.04", "MEDGEN:101771", "MESH:D053684", "SCTID:21794005", "UMLS:C0149870"]}
{"category": ["biolink:Disease"], "description": "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.", "id": "MONDO:0006722", "name": "Dental fluorosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fluorosis", "mottled teeth", "mottling of enamel"], "xref": ["DOID:13711", "EFO:1000892", "ICD10CM:K00.3", "ICD9:520.3", "MEDGEN:44506", "MESH:D009050", "MedDRA:10016819", "NCIT:C85059", "SCTID:30265004", "UMLS:C0026618"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mouth due to denture irritation.", "id": "MONDO:0006723", "name": "Denture stomatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11875", "EFO:1000893", "ICD9:528.9", "MEDGEN:21333", "MESH:D013282", "SCTID:69254008", "UMLS:C0038364"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.", "id": "MONDO:0006726", "name": "Diaphragmatic eventration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["diaphragmatic eventration", "diaphragmatic eventration (disease)"], "xref": ["DOID:10480", "EFO:1000898", "GARD:0024462", "HP:0009110", "MEDGEN:8359", "MESH:D003965", "NCIT:C98912", "SCTID:34168003", "UMLS:C0011981"]}
{"category": ["biolink:Disease"], "description": "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.", "id": "MONDO:0006727", "name": "Diastolic heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9775", "EFO:1000899", "ICD9:428.3", "ICD9:428.30", "MEDGEN:210051", "MESH:D054144", "MedDRA:10069211", "SCTID:418304008", "UMLS:C1135196"]}
{"category": ["biolink:Disease"], "description": "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.", "id": "MONDO:0006729", "name": "Discrete subaortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:5804", "GARD:0024463", "MEDGEN:3867", "MESH:D021922", "UMLS:C0012628"]}
{"category": ["biolink:Disease"], "description": "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.", "id": "MONDO:0006730", "name": "Drug psychosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["drug-induced psychotic disorder"], "xref": ["DOID:1742", "ICD9:292.1", "MEDGEN:46195", "MESH:D011605", "MedDRA:10045855", "SCTID:191483003", "UMLS:C0033937"]}
{"category": ["biolink:Disease"], "description": "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.", "id": "MONDO:0006731", "name": "Drug-induced akathisia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G25.71", "ICD9:333.99", "MEDGEN:57937", "MESH:D017109", "MedDRA:10001540", "SCTID:230333002", "UMLS:C0162550"]}
{"category": ["biolink:Disease"], "description": "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)", "id": "MONDO:0006732", "name": "Drug-induced dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000904", "ICD9:333.99", "MEDGEN:3935", "MESH:D004409", "MedDRA:10013916", "SCTID:102448004", "UMLS:C0013386"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.", "id": "MONDO:0006733", "name": "Dry eye syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dry eye", "dry eye syndrome", "dry eye(s)", "eye(s), dry", "keratoconjunctivitis sicca", "sicca, keratoconjunctivitis"], "xref": ["DOID:10140", "DOID:12895", "EFO:1000906", "ICD10CM:H04.12", "ICD9:375.15", "MEDGEN:4411", "MESH:D007638", "MESH:D015352", "MedDRA:10013777", "MedDRA:100233350", "NCIT:C34553", "SCTID:302896008", "SCTID:46152009", "UMLS:C0013238"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm arising from the wall of the duodenum.", "id": "MONDO:0006734", "name": "Benign duodenal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign duodenal neoplasm", "benign duodenal tumor", "benign duodenal tumour", "benign neoplasm of duodenum", "benign neoplasm of the duodenum", "benign tumor of duodenum", "benign tumor of the duodenum", "benign tumour of duodenum", "benign tumour of the duodenum", "duodenum benign neoplasm"], "xref": ["DOID:1737", "EFO:1000907", "ICD10CM:D13.2", "MEDGEN:96924", "MedDRA:10004251", "NCIT:C4775", "SCTID:92080005", "UMLS:C0496869", "icd11.foundation:1748537954"]}
{"category": ["biolink:Disease"], "description": "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.", "id": "MONDO:0006735", "name": "Duodenogastric reflux", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duodenogastric reflux (finding)"], "xref": ["DOID:4071", "EFO:1000909", "MEDGEN:4420", "MESH:D004383", "MedDRA:10060865", "UMLS:C0013299"]}
{"category": ["biolink:Disease"], "description": "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.", "id": "MONDO:0006736", "name": "Dysplasia of cervix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000910", "ICD9:622.1", "ICD9:622.10", "ICD9:622.11", "MEDGEN:2971", "MESH:D002578", "MedDRA:10013957", "SCTID:73391008", "UMLS:C0007868"]}
{"category": ["biolink:Disease"], "description": "Slow or difficult obstetric labor or childbirth.", "id": "MONDO:0006737", "name": "Dystocia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000911", "MEDGEN:3939", "MESH:D004420", "UMLS:C0013418"]}
{"category": ["biolink:Disease"], "description": "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.", "id": "MONDO:0006738", "name": "Eccrine acrospiroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eccrine acrospiroma", "eccrine poroma", "poroma", "poroma (acrospiroma)"], "xref": ["DOID:5442", "EFO:1000912", "MEDGEN:104915", "MESH:D018250", "NCIT:C27273", "ONCOTREE:PORO", "SCTID:400099008", "UMLS:C0206671"]}
{"category": ["biolink:Disease"], "description": "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.", "id": "MONDO:0006739", "name": "Ehrlich tumor carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:5050", "EFO:1000913", "MEDGEN:40103", "MESH:D002286", "UMLS:C0007125"]}
{"category": ["biolink:Disease"], "description": "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.", "id": "MONDO:0006740", "name": "Empty sella syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["empty sella", "empty sella syndrome"], "xref": ["DOID:3642", "EFO:1000914", "GARD:0027764", "ICD9:253.8", "MEDGEN:41766", "MESH:D004652", "MedDRA:10014567", "NCIT:C84686", "SCTID:237722004", "UMLS:C0014008", "icd11.foundation:49112094"]}
{"category": ["biolink:Disease"], "description": "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.", "id": "MONDO:0006741", "name": "Encephalomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2034", "EFO:1000915", "MEDGEN:4936", "MESH:D004678", "MedDRA:10051818", "NCIT:C98920", "SCTID:58762006", "UMLS:C0014068", "icd11.foundation:689481271"]}
{"category": ["biolink:Disease"], "description": "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.", "id": "MONDO:0006742", "name": "Endemic goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["iodine-deficiency-related endemic goiter", "simple goiter"], "xref": ["DOID:13198", "EFO:1000916", "MEDGEN:5357", "MESH:D006043", "MedDRA:10068848", "NCIT:C35023", "SCTID:56805008", "UMLS:C0018022"]}
{"category": ["biolink:Disease"], "description": "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.", "id": "MONDO:0006743", "name": "Endocrine tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024464", "MEDGEN:52884", "MESH:D014383", "UMLS:C0041310"]}
{"category": ["biolink:Disease"], "description": "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.", "id": "MONDO:0006744", "name": "Endolymphatic hydrops", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9848", "EFO:1000918", "ICD9:386.8", "MEDGEN:60183", "MESH:D018159", "MedDRA:10049934", "SCTID:27621000119100", "UMLS:C0206586"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.", "id": "MONDO:0006745", "name": "Endometrioid stromal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ESS", "endometrial stromal sarcoma", "endometrial stromal sarcomas", "endometrioid stromal sarcoma", "ess", "sarcomas, endometrial stromal", "stromal sarcoma of the corpus uteri", "stromal sarcoma, endometrial", "stromal sarcoma, endometrial, malignant", "stromal sarcomas, endometrial"], "xref": ["DOID:4226", "EFO:1000919", "GARD:0006339", "ICDO:8930/3", "MEDGEN:60196", "MESH:D018203", "MedDRA:10048397", "MedDRA:10057649", "NCIT:C8973", "NORD:1086", "ONCOTREE:ESS", "Orphanet:213711", "SCTID:699356008", "UMLS:C0206630"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.", "id": "MONDO:0006746", "name": "Endomyocardial fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["African endomyocardial fibrosis"], "xref": ["DOID:12932", "EFO:1000921", "GARD:0006340", "ICD9:425.0", "MEDGEN:107513", "MESH:D004719", "MedDRA:10014800", "NCIT:C34585", "NORD:1092", "UMLS:C0553980", "icd11.foundation:365224859"]}
{"category": ["biolink:Disease"], "description": "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.", "id": "MONDO:0006749", "name": "Mixed epithelioid and spindle cell melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mixed epithelioid and spindle cell melanoma"], "xref": ["ICDO:8770/3", "MEDGEN:1859670", "MESH:D018332", "NCIT:C66756", "SCTID:254811006", "UMLS:C5886750"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus erysipelothrix.", "id": "MONDO:0006751", "name": "Erysipelothrix infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Erysipelothrix caused disease or disorder", "Erysipelothrix disease or disorder"], "xref": ["MEDGEN:41856", "MESH:D004889", "SCTID:367434002", "UMLS:C0014736"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Erysipelothrix rhusiopathiae.", "id": "MONDO:0006752", "name": "Erysipelothrix rhusiopathiae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Erysipelothrix rhusiopathiae caused disease or disorder", "Erysipelothrix rhusiopathiae disease or disorder", "erysipeloid"], "xref": ["DOID:0050061", "EFO:1000928", "ICD10CM:A26", "MEDGEN:266170", "MESH:D004887", "SCTID:400105005", "UMLS:C1276801"]}
{"category": ["biolink:Disease"], "description": "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)", "id": "MONDO:0006753", "name": "Escherichia coli meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000929", "GARD:0024466", "ICD9:320.7", "ICD9:320.82", "MEDGEN:90920", "MESH:D020814", "SCTID:192655005", "UMLS:C0338395"]}
{"category": ["biolink:Disease"], "description": "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.", "id": "MONDO:0006754", "name": "Esophageal diverticulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13185", "MEDGEN:214609", "MESH:D045723", "UMLS:C0917875"]}
{"category": ["biolink:Disease"], "description": "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.", "id": "MONDO:0006755", "name": "Euthyroid sick syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["euthyroid sick syndrome", "sick euthyroid syndrome", "sick-euthyroid syndrome"], "xref": ["DOID:2856", "EFO:1000931", "ICD10CM:E07.81", "ICD9:790.94", "MEDGEN:41908", "MESH:D005067", "MedDRA:10015549", "NCIT:C113170", "SCTID:237542005", "UMLS:C0015190"]}
{"category": ["biolink:Disease"], "description": "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.", "id": "MONDO:0006757", "name": "Extrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cholestasis of extrahepatic bile duct", "extrahepatic bile duct cholestasis", "extrahepatic cholestasis (finding)"], "xref": ["DOID:13619", "EFO:1000933", "MEDGEN:2241", "MESH:D001651", "MedDRA:10008637", "SCTID:8262006", "UMLS:C0005398"]}
{"category": ["biolink:Disease"], "description": "Mycobacterium infections of the female reproductive tract (genitalia, female).", "id": "MONDO:0006758", "name": "Female genital tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000935", "MEDGEN:21724", "MESH:D014384", "MedDRA:10061150", "SCTID:74181004", "UMLS:C0041311"]}
{"category": ["biolink:Disease"], "description": "Neuropathy of the femoral nerve.", "id": "MONDO:0006759", "name": "Femoral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["femoral nerve peripheral nerve lesion", "peripheral nerve lesion of femoral nerve"], "xref": ["DOID:4196", "GARD:0024467", "ICD9:355.2", "MEDGEN:148421", "MESH:D020428", "NCIT:C27595", "SCTID:25690000", "UMLS:C0751931"]}
{"category": ["biolink:Disease"], "description": "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.", "id": "MONDO:0006760", "name": "Fetal erythroblastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDFN", "erythroblastosis fetalis", "hemolytic disease of the fetus or newborn", "hemolytic disease of the foetus or newborn", "hemolytic disease of the newborn", "isoimmune hemolytic disease of the newborn"], "xref": ["DOID:1098", "EFO:1000937", "GARD:0024468", "ICD9:773", "ICD9:773.2", "MEDGEN:4530", "MESH:D004899", "NCIT:C101304", "SCTID:387705004", "UMLS:C0014761"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.", "id": "MONDO:0006761", "name": "Fibromuscular dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FMDA", "fibromuscular dysplasia", "fibromuscular dysplasia of arteries"], "xref": ["EFO:1000938", "GARD:0027765", "MEDGEN:4700", "MESH:C537929", "MESH:D005352", "MedDRA:10054794", "NCIT:C84714", "OMIM:135580", "Orphanet:336", "Orphanet:698012", "UMLS:C0016052", "icd11.foundation:280853107"]}
{"category": ["biolink:Disease"], "description": "A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.", "id": "MONDO:0006763", "name": "Frozen shoulder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adhesive capsulitis", "adhesive capsulitis of shoulder"], "xref": ["DOID:14188", "EFO:1000941", "ICD10CM:M75.0", "ICD9:726.0", "MEDGEN:90227", "MedDRA:10017391", "SCTID:399114005", "UMLS:C0311223"]}
{"category": ["biolink:Disease"], "description": "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.", "id": "MONDO:0006764", "name": "Fungal meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Fungi caused infectious meningitis", "Fungi infectious meningitis"], "xref": ["DOID:11608", "EFO:1000942", "GARD:0024469", "ICD9:117.9", "ICD9:321.1", "MEDGEN:39285", "MESH:D016921", "MedDRA:10017538", "SCTID:24321005", "UMLS:C0085438", "icd11.foundation:1137081791"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus fusobacterium.", "id": "MONDO:0006765", "name": "Fusobacterium infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Fusobacterium caused disease or disorder", "Fusobacterium disease or disorder", "infection due to Fusobacterium"], "xref": ["EFO:1000943", "ICD9:041.84", "MEDGEN:872278", "SCTID:712657002", "UMLS:C4039413"]}
{"category": ["biolink:Disease"], "description": "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.", "id": "MONDO:0006766", "name": "Gait apraxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Gait apraxia (finding)"], "xref": ["DOID:4260", "MEDGEN:266930", "MESH:D020235", "MedDRA:10070635", "UMLS:C1510417"]}
{"category": ["biolink:Disease"], "description": "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.", "id": "MONDO:0006767", "name": "Gastric antral vascular ectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["GAVE"], "xref": ["DOID:2493", "EFO:1000945", "GARD:0007877", "MEDGEN:82753", "MESH:D020252", "MedDRA:10051585", "NCIT:C84724", "SCTID:43935004", "UMLS:C0267211"]}
{"category": ["biolink:Disease"], "description": "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.", "id": "MONDO:0006769", "name": "Gastroparesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastroparalysis", "gastroparesis", "gastroparesis (disease)", "gastroparesis syndrome"], "xref": ["DOID:11914", "EFO:1000948", "HP:0002578", "ICD10CM:K31.84", "ICD9:536.3", "MEDGEN:101809", "MESH:D018589", "MedDRA:10018043", "SCTID:196753007", "UMLS:C0152020", "icd11.foundation:598423727"]}
{"category": ["biolink:Disease"], "description": "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.", "id": "MONDO:0006770", "name": "Giant cell reparative granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GCLSB", "central giant cell (reparative) granuloma", "central giant cell granuloma", "giant cell lesion of small bones"], "xref": ["DOID:1866", "EFO:1000950", "GARD:0024470", "ICD9:526.3", "MEDGEN:102385", "MESH:D006101", "NCIT:C121893", "Orphanet:696078", "SCTID:15350006", "UMLS:C0162375"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the tongue.", "id": "MONDO:0006771", "name": "Glossitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of tongue", "tongue inflammation"], "xref": ["DOID:1456", "EFO:1000951", "ICD10CM:K14.0", "ICD9:529.0", "MEDGEN:6618", "MESH:D005928", "MedDRA:10018386", "SCTID:45534005", "UMLS:C0017675", "icd11.foundation:843084384"]}
{"category": ["biolink:Disease"], "description": "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.", "id": "MONDO:0006773", "name": "Gonadal tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:104925", "MESH:D018309", "UMLS:C0206722"]}
{"category": ["biolink:Disease"], "description": "Three or more consecutive spontaneous abortions.", "id": "MONDO:0006774", "name": "Habitual spontaneous abortion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000954", "MEDGEN:1259", "MESH:D000026", "MedDRA:10062935", "SCTID:102878001", "UMLS:C0000809"]}
{"category": ["biolink:Disease"], "description": "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.", "id": "MONDO:0006777", "name": "Hairy tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hairy tongue"], "xref": ["DOID:13500", "ICD9:529.8", "MEDGEN:21199", "MESH:D014064", "MedDRA:10043960", "NCIT:C35075", "SCTID:255225007", "UMLS:C0040414"]}
{"category": ["biolink:Disease"], "description": "A benign melanocytic nevus with a halo appearance.", "id": "MONDO:0006778", "name": "Halo nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["halo nevi"], "xref": ["EFO:1000958", "ICD9:709.09", "ICDO:8723/0", "MEDGEN:141636", "MESH:D055882", "MedDRA:10062794", "NCIT:C7602", "SCTID:398028009", "UMLS:C0474824"]}
{"category": ["biolink:Disease"], "description": "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.", "id": "MONDO:0006779", "name": "Heart aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiac aneurysm"], "xref": ["DOID:9768", "EFO:1000959", "ICD10CM:I25.3", "ICD9:414.10", "ICD9:414.19", "MEDGEN:42360", "MESH:D006322", "MedDRA:10002350", "NANDO:2200234", "SCTID:65340007", "UMLS:C0018789", "icd11.foundation:1571863865"]}
{"category": ["biolink:Disease"], "description": "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.", "id": "MONDO:0006781", "name": "Helicobacter pylori infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Helicobacter pylori caused disease or disorder", "Helicobacter pylori disease or disorder"], "xref": ["EFO:1000961", "MESH:D016481"]}
{"category": ["biolink:Disease"], "description": "Blood-filled uterus.", "id": "MONDO:0006782", "name": "Hemometra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hematometra"], "xref": ["DOID:9958", "ICD10CM:N85.7", "ICD9:621.4", "MEDGEN:6776", "MESH:D006409", "SCTID:38280009", "UMLS:C0018948"]}
{"category": ["biolink:Disease"], "description": "Collection of air and blood in the pleural cavity.", "id": "MONDO:0006783", "name": "Hemopneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2718", "EFO:1000963", "ICD10CM:J94.2", "ICD9:511.89", "MEDGEN:9208", "MESH:D006468", "MedDRA:10060632", "SCTID:16632002", "UMLS:C0019077"]}
{"category": ["biolink:Disease"], "description": "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.", "id": "MONDO:0006784", "name": "Hemorrhagic disease of newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hemorrhagic disease of newborn", "vitamin K deficiency bleeding in newborn"], "xref": ["EFO:1000964", "GARD:0024471", "ICD10CM:P53", "ICD9:776.0", "MEDGEN:42406", "MESH:D006475", "MedDRA:10019601", "NCIT:C111857", "SCTID:12546009", "UMLS:C0019088"]}
{"category": ["biolink:Disease"], "description": "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.", "id": "MONDO:0006786", "name": "Hepatic vein thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hepatic vein thrombosis"], "xref": ["DOID:11512", "EFO:1000966", "MEDGEN:9217", "MedDRA:10006537", "MedDRA:10019713", "SCTID:38739001", "UMLS:C0019154", "icd11.foundation:2131410813"]}
{"category": ["biolink:Disease"], "description": "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.", "id": "MONDO:0006787", "name": "Hidrocystoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hydrocystoma", "apocrine/eccrine hidrocystoma", "hidrocystoma", "hidrocystoma (morphologic abnormality)"], "xref": ["DOID:3893", "EFO:1000967", "ICD9:709.8", "ICDO:8404/0", "MEDGEN:61656", "MESH:D018251", "MedDRA:10059019", "NCIT:C3760", "SCTID:254725004", "UMLS:C0206672", "icd11.foundation:2040265542"]}
{"category": ["biolink:Disease"], "description": "Abnormally high level of amylase in the blood.", "id": "MONDO:0006789", "name": "Hyperamylasemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000969", "GARD:0024473", "MEDGEN:105401", "MESH:D034321", "MedDRA:10062777", "UMLS:C0476327"]}
{"category": ["biolink:Disease"], "description": "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)", "id": "MONDO:0006790", "name": "Hypercementosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cementation hyperplasia"], "xref": ["DOID:12733", "EFO:1000970", "ICD10CM:K03.4", "ICD9:521.5", "MEDGEN:9360", "MESH:D006936", "MedDRA:10020596", "SCTID:78537008", "UMLS:C0020441"]}
{"category": ["biolink:Disease"], "description": "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.", "id": "MONDO:0006791", "name": "Hyperemesis gravidarum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperemesis gravidarum", "hyperemesis gravidarum (disease)"], "xref": ["EFO:1000971", "HP:0012188", "MEDGEN:43776", "MESH:D006939", "MedDRA:10020614", "SCTID:14094001", "UMLS:C0020450"]}
{"category": ["biolink:Disease"], "description": "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.", "id": "MONDO:0006792", "name": "Hyperglobulinemic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:3325", "GARD:0024474", "MEDGEN:19585", "MESH:D011694", "SCTID:402852007", "UMLS:C0034151"]}
{"category": ["biolink:Disease"], "description": "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.", "id": "MONDO:0006793", "name": "Hyperpituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2444", "EFO:1000973", "ICD9:253.1", "MEDGEN:43783", "MESH:D006964", "MedDRA:10020716", "SCTID:10649000", "UMLS:C0020506"]}
{"category": ["biolink:Disease"], "description": "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.", "id": "MONDO:0006794", "name": "Hypersensitivity vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["leukocytoclastic vasculitis"], "xref": ["DOID:9809", "EFO:1000974", "GARD:0024475", "ICD9:446.2", "ICD9:446.20", "ICD9:446.29", "MEDGEN:445500", "MedDRA:10020764", "NCIT:C82863", "SCTID:60555002", "UMLS:C2973529"]}
{"category": ["biolink:Disease"], "description": "Overactive functioning of the spleen, resulting in excessive destruction of blood cells.", "id": "MONDO:0006795", "name": "Hypersplenism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypersplenia", "hypersplenism", "hypersplenism (disease)"], "xref": ["DOID:6376", "EFO:1000975", "GARD:0024476", "HP:0001971", "ICD10CM:D73.1", "ICD9:289.4", "MEDGEN:9372", "MESH:D006971", "MedDRA:10020769", "NANDO:2200637", "NCIT:C34714", "SCTID:58381000", "UMLS:C0020532", "icd11.foundation:2093549625"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy resulting from hypertension.", "id": "MONDO:0006796", "name": "Hypertensive encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9427", "EFO:1000976", "ICD10CM:I67.4", "ICD9:437.2", "MEDGEN:57726", "MESH:D020343", "MedDRA:10020803", "NCIT:C3503", "SCTID:50490005", "UMLS:C0151620", "icd11.foundation:1934215896"]}
{"category": ["biolink:Disease"], "description": "Retinopathy due to hypertension.", "id": "MONDO:0006797", "name": "Hypertensive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11561", "EFO:1000977", "ICD10CM:H35.03", "ICD9:362.11", "MEDGEN:101819", "MESH:D058437", "MedDRA:10020839", "NCIT:C3514", "SCTID:6962006", "UMLS:C0152132", "icd11.foundation:218513628"]}
{"category": ["biolink:Disease"], "description": "A symptom complex resulting from ingesting excessive amounts of vitamin A.", "id": "MONDO:0006798", "name": "Hypervitaminosis a", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypervitaminosis type A"], "xref": ["DOID:9972", "EFO:1000978", "ICD10CM:E67.0", "ICD9:278.2", "MEDGEN:9378", "MESH:D006986", "MedDRA:10020916", "SCTID:64559002", "UMLS:C0020579", "icd11.foundation:1465667896"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic neoplasm that affects the hypothalamus.", "id": "MONDO:0006799", "name": "Hypothalamic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypothalamic neoplasms", "hypothalamic tumor", "hypothalamic tumour", "hypothalamus neoplasm", "hypothalamus tumor", "hypothalamus tumour", "neoplasm of hypothalamus", "neoplasm of the hypothalamus", "tumor of hypothalamus", "tumor of the hypothalamus", "tumour of hypothalamus", "tumour of the hypothalamus"], "xref": ["DOID:3644", "EFO:1000979", "MEDGEN:5717", "MESH:D007029", "NCIT:C3129", "SCTID:254968009", "UMLS:C0020659", "icd11.foundation:1383549237"]}
{"category": ["biolink:Disease"], "description": "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)", "id": "MONDO:0006800", "name": "Ideomotor apraxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["classic apraxia (finding) [ambiguous]", "limb-kinetic apraxia (finding)", "transcortical apraxia (finding)"], "xref": ["DOID:4627", "EFO:1000980", "ICD9:315.8", "MEDGEN:115961", "MESH:D020240", "MedDRA:10021216", "SCTID:229706001", "UMLS:C0234523"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.", "id": "MONDO:0006801", "name": "Ileal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ileal tumor", "ileal tumour", "ileum neoplasm", "ileum neoplasm (disease)", "ileum tumor", "ileum tumour", "neoplasm of ileum", "neoplasm of the ileum", "tumor of ileum", "tumor of the ileum", "tumour of ileum", "tumour of the ileum"], "xref": ["DOID:10156", "EFO:1000981", "MEDGEN:43825", "MESH:D007078", "NCIT:C3130", "SCTID:126835002", "UMLS:C0020876"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.", "id": "MONDO:0006802", "name": "Inappropriate adh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SIADH", "ectopic ADH secretion", "ectopic antidiuretic hormone secretion", "inappropriate ADH secretion", "inappropriate Arginine vasopressin secretion", "inappropriate antidiuretic hormone secretion syndrome", "syndrome of inappropriate antidiuretic hormone", "syndrome of inappropriate antidiuretic hormone secretion", "syndrome of inappropriate secretion of antidiuretic hormone", "syndrome of inappropriate vasopressin secretion"], "xref": ["DOID:3401", "EFO:1000982", "ICD10CM:E22.2", "ICD9:253.6", "MEDGEN:5772", "MESH:D007177", "MedDRA:10042818", "NANDO:1200376", "NANDO:2100116", "NANDO:2200323", "NCIT:C3988", "Orphanet:83449", "SCTID:55004003", "UMLS:C0021141"]}
{"category": ["biolink:Disease"], "description": "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.", "id": "MONDO:0006803", "name": "Inferior myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:5850", "EFO:1000983", "MEDGEN:83305", "MESH:D056989", "MedDRA:10057546", "UMLS:C0340305"]}
{"category": ["biolink:Disease"], "description": "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.", "id": "MONDO:0006804", "name": "Inflammatory breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["inflammatory breast cancer", "inflammatory breast carcinoma", "inflammatory carcinoma of breast", "inflammatory carcinoma of the breast", "mastitis Carcinomatosa", "mastitis carcinomatosa"], "xref": ["DOID:6263", "EFO:1000984", "GARD:0006784", "ICDO:8530/3", "MEDGEN:75841", "MESH:D058922", "MedDRA:10006205", "NCIT:C4001", "ONCOTREE:IBC", "Orphanet:694963", "SCTID:254840009", "UMLS:C0278601"]}
{"category": ["biolink:Disease"], "description": "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.", "id": "MONDO:0006805", "name": "Intermediate coronary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Preinfarction angina", "angina at rest", "anginal chest pain at rest", "impending infarction", "unstable angina", "worsening angina"], "xref": ["DOID:8805", "EFO:1000985", "ICD10CM:I20.0", "ICD9:411.1", "MEDGEN:296", "MESH:D000789", "MedDRA:10022554", "UMLS:C0002965", "icd11.foundation:253490233"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the pars plana.", "id": "MONDO:0006806", "name": "Intermediate uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IU", "intermediate uveitis", "intermediate uveitis (disease)"], "xref": ["DOID:12732", "EFO:1000986", "GARD:0021065", "HP:0012124", "MEDGEN:22596", "MESH:D015867", "MedDRA:10022557", "NCIT:C35110", "Orphanet:279914", "SCTID:314429009", "UMLS:C0042166", "icd11.foundation:892860325"]}
{"category": ["biolink:Disease"], "description": "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.", "id": "MONDO:0006807", "name": "Intestinal perforation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bowel perforation", "perforation of intestine"], "xref": ["DOID:2074", "EFO:1000987", "ICD9:569.83", "MEDGEN:9525", "MESH:D007416", "MedDRA:10022694", "NCIT:C39611", "SCTID:56905009", "UMLS:C0021845"]}
{"category": ["biolink:Disease"], "description": "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.", "id": "MONDO:0006808", "name": "Intracranial arterial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13089", "EFO:1000990", "MEDGEN:199819", "MESH:D020765", "UMLS:C0752138"]}
{"category": ["biolink:Disease"], "description": "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.", "id": "MONDO:0006809", "name": "Intracranial embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4372", "EFO:1000991", "ICD9:434.1", "ICD9:434.10", "MEDGEN:155710", "MESH:D020766", "SCTID:75543006", "UMLS:C0752140", "icd11.foundation:816982857"]}
{"category": ["biolink:Disease"], "description": "A finding characterized by increased cerebrospinal fluid pressure within the skull.", "id": "MONDO:0006810", "name": "Intracranial hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9428", "EFO:1000992", "MEDGEN:56241", "MESH:D019586", "MedDRA:10022764", "UMLS:C0151740"]}
{"category": ["biolink:Disease"], "description": "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)", "id": "MONDO:0006811", "name": "Intracranial hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4723", "EFO:1000993", "ICD10CM:G96.81", "ICD9:349.89", "MEDGEN:141851", "MESH:D019585", "MedDRA:10049977", "SCTID:433691000124104", "UMLS:C0524812", "icd11.foundation:363695674"]}
{"category": ["biolink:Disease"], "description": "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).", "id": "MONDO:0006812", "name": "Intracranial vasospasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13100", "EFO:1000994", "MEDGEN:199760", "MESH:D020301", "UMLS:C0751895"]}
{"category": ["biolink:Disease"], "description": "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.", "id": "MONDO:0006813", "name": "Intradermal nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dermal Nevus"], "xref": ["EFO:1000995", "ICDO:8750/0", "MEDGEN:61670", "MESH:D018330", "MedDRA:10058537", "NCIT:C3804", "SCTID:302838006", "UMLS:C0206737"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the iris.", "id": "MONDO:0006814", "name": "Iritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of iris", "iris inflammation", "iritis", "iritis (disease)"], "xref": ["DOID:1406", "EFO:1000997", "GARD:0024477", "HP:0001101", "MEDGEN:7160", "MESH:D007500", "MedDRA:10022955", "NCIT:C50621", "SCTID:65074000", "UMLS:C0022081"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the jejunum.", "id": "MONDO:0006815", "name": "Jejunal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of jejunum", "jejunum cancer", "malignant jejunum neoplasm", "malignant neoplasm of jejunum", "malignant tumour of jejunum"], "xref": ["DOID:13499", "EFO:1000998", "GARD:0024478", "ICD10CM:C17.1", "ICD9:152.1", "MEDGEN:56302", "MedDRA:10023166", "NCIT:C170919", "SCTID:363404008", "UMLS:C0153427", "icd11.foundation:1044568664"]}
{"category": ["biolink:Disease"], "description": "Any disorder of the joints.", "id": "MONDO:0006816", "name": "Arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Joint disorder", "arthropathy", "disease of skeletal joint", "disease or disorder of skeletal joint", "disorder of skeletal joint", "disorder, Joint", "skeletal joint disease", "skeletal joint disease or disorder"], "xref": ["DOID:381", "EFO:1000999", "ICD9:711", "ICD9:716.80", "ICD9:716.88", "ICD9:716.9", "ICD9:716.90", "ICD9:716.98", "ICD9:719.80", "ICD9:719.88", "ICD9:719.89", "ICD9:719.9", "ICD9:719.90", "ICD9:719.98", "MEDGEN:7190", "MESH:D007592", "MedDRA:10003285", "NCIT:C35760", "SCTID:399269003", "UMLS:C0022408"]}
{"category": ["biolink:Disease"], "description": "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.", "id": "MONDO:0006817", "name": "Juxtacortical osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["juxtacortical osteogenic sarcoma", "juxtacortical osteosarcoma", "parosteal osteogenic sarcoma", "parosteal osteosarcoma"], "xref": ["DOID:3373", "EFO:1001000", "GARD:0024479", "ICDO:9192/3", "MEDGEN:60197", "MESH:D018217", "NCIT:C8969", "ONCOTREE:PAOS", "UMLS:C0206642"]}
{"category": ["biolink:Disease"], "description": "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.", "id": "MONDO:0006820", "name": "Renal cortical necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:2973", "ICD9:583.6", "MEDGEN:9634", "MESH:D007673", "MedDRA:10023414", "SCTID:444691002", "UMLS:C0022656"]}
{"category": ["biolink:Disease"], "description": "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.", "id": "MONDO:0006821", "name": "Kidney papillary necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["renal papillitis necrotizing"], "xref": ["DOID:2981", "ICD9:583.7", "MEDGEN:7212", "MESH:D007681", "MedDRA:10028865", "SCTID:90241004", "UMLS:C0022667"]}
{"category": ["biolink:Disease"], "description": "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.", "id": "MONDO:0006823", "name": "Klinefelter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["47,XXY syndrome", "Klinefelter syndrome", "Klinefelter's syndrome", "Klinefelter's syndrome, XXY", "XXY syndrome", "XXY syndrome (Klinefelter syndrome)"], "xref": ["DOID:1921", "EFO:1001006", "MEDGEN:44033", "MESH:D007713", "MedDRA:10023463", "NANDO:2200386", "NCIT:C34752", "SCTID:405769009", "UMLS:C0022735", "icd11.foundation:1937385304"]}
{"category": ["biolink:Disease"], "description": "Carcinoma having known association to krebs2 gene mutation", "id": "MONDO:0006824", "name": "Krebs 2 carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001007", "MEDGEN:2842", "MESH:D002287", "UMLS:C0007128"]}
{"category": ["biolink:Disease"], "description": "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)", "id": "MONDO:0006825", "name": "Kuru", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:648", "EFO:1001008", "GARD:0007617", "ICD10CM:A81.81", "ICD9:046.0", "MEDGEN:9653", "MESH:D007729", "MedDRA:10023497", "Orphanet:454745", "SCTID:86188000", "UMLS:C0022802", "icd11.foundation:553889510"]}
{"category": ["biolink:Disease"], "description": "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)", "id": "MONDO:0006826", "name": "Kwashiorkor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nutritional edema with dyspigmentation of skin and/or hair", "nutritional oedema with dyspigmentation of skin and hair"], "xref": ["DOID:13579", "EFO:1001009", "ICD10CM:E40", "ICD10WHO:E40", "ICD9:260", "MEDGEN:7233", "MESH:D007732", "MedDRA:10023504", "SCTID:58262005", "UMLS:C0022806", "icd11.foundation:1656486805"]}
{"category": ["biolink:Disease"], "description": "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.", "id": "MONDO:0006827", "name": "Lateral medullary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Posterior inferior cerebellar artery syndrome", "Wallenberg syndrome", "Wallenberg's syndrome"], "xref": ["DOID:3522", "EFO:1001011", "GARD:0027766", "ICD9:437.1", "MEDGEN:53057", "MESH:D014854", "MedDRA:10024033", "NCIT:C84807", "SCTID:78569004", "UMLS:C0043019", "icd11.foundation:1569228344", "icd11.foundation:1606151456"]}
{"category": ["biolink:Disease"], "description": "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.", "id": "MONDO:0006828", "name": "Nasal cavity and paranasal sinus lethal midline granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Midline lethal granuloma of nasal cavity and paranasal sinus", "Midline lethal granuloma of the nasal cavity and paranasal sinus", "midfacial Necrotising lesion", "nasal cavity and paranasal sinus lethal Midline granuloma"], "xref": ["DOID:9072", "EFO:1001013", "ICD9:446.3", "MEDGEN:42292", "MESH:D006103", "MedDRA:10024255", "NCIT:C8196", "UMLS:C0018197"]}
{"category": ["biolink:Disease"], "description": "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.", "id": "MONDO:0006829", "name": "Leukemoid reaction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001014", "GARD:0024480", "ICD10CM:D72.823", "ICD9:288.62", "ICD9:288.8", "MEDGEN:44129", "MESH:D007955", "MedDRA:10024373", "SCTID:56478004", "UMLS:C0023501"]}
{"category": ["biolink:Disease"], "description": "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.", "id": "MONDO:0006830", "name": "Leukoplakia of penis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["kraurosis of penis", "kraurosis penis", "leukoplakia of the penis", "penile leukoplakia"], "xref": ["DOID:8738", "ICD10CM:N48.0", "ICD9:607.0", "MEDGEN:44036", "MedDRA:10024394", "NCIT:C3151", "SCTID:3323003", "UMLS:C0022782"]}
{"category": ["biolink:Disease"], "description": "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.", "id": "MONDO:0006831", "name": "Leukostasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["leukostasis (morphologic abnormality)"], "xref": ["DOID:12986", "EFO:1001016", "GARD:0024481", "MEDGEN:84394", "MESH:D018921", "MedDRA:10024404", "UMLS:C0282548"]}
{"category": ["biolink:Disease"], "description": "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.", "id": "MONDO:0006833", "name": "Lingual goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13196", "ICD9:759.2", "MEDGEN:75766", "MESH:D047268", "SCTID:75667007", "UMLS:C0271760"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the lip.", "id": "MONDO:0006834", "name": "Lip cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of lip", "lip cancer", "malignant Lip neoplasm", "malignant Lip tumor", "malignant Lip tumour", "malignant lip neoplasm", "malignant neoplasm of Lip", "malignant neoplasm of lip", "malignant neoplasm of lip, inner aspect", "malignant neoplasm of lip, unspecified", "malignant neoplasm of lip, unspecified, inner aspect", "malignant neoplasm of lip, unspecified, vermilion border", "malignant neoplasm of oral aspect of lip, not specified whether upper or lower", "malignant neoplasm of the Lip", "malignant tumor of Lip", "malignant tumor of commissure of lip", "malignant tumor of labial commissure", "malignant tumor of lip", "malignant tumor of the Lip", "malignant tumour of Lip", "malignant tumour of commissure of lip", "malignant tumour of labial mucosa", "malignant tumour of lip", "malignant tumour of lower labial mucosa", "malignant tumour of the Lip"], "xref": ["DOID:8564", "EFO:1001019", "GARD:0027767", "ICD10CM:C00", "ICD9:140", "ICD9:140.5", "ICD9:140.6", "ICD9:140.8", "MEDGEN:57548", "MESH:D008048", "MedDRA:10007089", "NCIT:C7485", "SCTID:187622006", "UMLS:C0153340", "icd11.foundation:304997495"]}
{"category": ["biolink:Disease"], "description": "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.", "id": "MONDO:0006835", "name": "Minimal change disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["lipoid nephrosis", "minimal change disease", "minimal change glomerulonephritis", "minimal change nephropathy", "nil disease"], "xref": ["DOID:10966", "EFO:1001020", "GARD:0009147", "MEDGEN:10307", "MESH:D009402", "MedDRA:10058325", "NANDO:1200720", "NANDO:2200112", "NCIT:C34844", "SCTID:44785005", "UMLS:C0027721"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)", "id": "MONDO:0006836", "name": "Listeria meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Listeria meningitis", "Listeria monocytogenes caused infectious meningitis", "Listeria monocytogenes infectious meningitis"], "xref": ["DOID:11572", "EFO:1001021", "GARD:0024482", "ICD9:320.7", "MEDGEN:7536", "MESH:D008584", "SCTID:31568009", "UMLS:C0025293"]}
{"category": ["biolink:Disease"], "description": "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.", "id": "MONDO:0006837", "name": "Low tension glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["normal tension glaucoma"], "xref": ["DOID:13544", "EFO:1001022", "ICD9:365.12", "MEDGEN:56263", "MESH:D057066", "MedDRA:10024931", "SCTID:50485007", "UMLS:C0152136"]}
{"category": ["biolink:Disease"], "description": "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.", "id": "MONDO:0006838", "name": "Lupus vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001023", "GARD:0024483", "MEDGEN:9821", "MESH:D008177", "MedDRA:10025143", "SCTID:10528009", "UMLS:C0024131", "icd11.foundation:1292667822"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.", "id": "MONDO:0006839", "name": "Lutembacher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Lutembacher's syndrome"], "xref": ["DOID:1998", "GARD:0024484", "MEDGEN:9825", "MESH:D008185", "SCTID:204319006", "UMLS:C0024164"]}
{"category": ["biolink:Disease"], "description": "Dilatation of the lymphatic vessels.", "id": "MONDO:0006840", "name": "Lymphangiectasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001025", "MEDGEN:9827", "MESH:D008200", "NCIT:C97087", "UMLS:C0024214"]}
{"category": ["biolink:Disease"], "description": "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.", "id": "MONDO:0006841", "name": "Lymphangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acquired progressive lymphangioma"], "xref": ["EFO:1001026", "GARD:0024485", "MEDGEN:7411", "NCIT:C3203", "SCTID:403975006", "UMLS:C0024217"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.", "id": "MONDO:0006842", "name": "Lymphangiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphangioleiomyoma", "lymphangiomyoma"], "xref": ["EFO:1001027", "GARD:0024486", "ICDO:9174/0", "MEDGEN:44216", "MESH:D008203", "NCIT:C3204", "UMLS:C0024223"]}
{"category": ["biolink:Disease"], "description": "A hole in the macula of the retina.", "id": "MONDO:0006843", "name": "Macular holes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["macular hole"], "xref": ["DOID:7633", "EFO:1001028", "MEDGEN:6176", "NCIT:C34795", "SCTID:232006002", "UMLS:C0024441"]}
{"category": ["biolink:Disease"], "description": "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)", "id": "MONDO:0006844", "name": "Magnesium deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001029", "ICD10CM:E61.2", "MEDGEN:44244", "MESH:D008275", "MedDRA:10025433", "SCTID:238118002", "UMLS:C0024473"]}
{"category": ["biolink:Disease"], "description": "Mycobacterium infections of the male reproductive tract (genitalia, male).", "id": "MONDO:0006845", "name": "Male genital tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["male genital tuberculosis", "male reproductive system tuberculosis"], "xref": ["GARD:0024487", "MEDGEN:52886", "MESH:D014389", "MedDRA:10061234", "SCTID:240379005", "UMLS:C0041317"]}
{"category": ["biolink:Disease"], "description": "Severe hypertension that is characterized by rapid onset of extremely high blood pressure and hypertension-mediated organ damage.", "id": "MONDO:0006846", "name": "Malignant hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["accelerated-malignant hypertension", "hypertensive emergency", "malignant phase hypertension"], "xref": ["DOID:10824", "EFO:1001031", "MEDGEN:9374", "MESH:D006974", "MedDRA:10025600", "SCTID:70272006", "UMLS:C0020540"]}
{"category": ["biolink:Disease"], "description": "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.", "id": "MONDO:0006847", "name": "Malignant lymphatic vessel tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024488"]}
{"category": ["biolink:Disease"], "description": "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.", "id": "MONDO:0006848", "name": "Marasmus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nutritional marasmus"], "xref": ["DOID:12328", "EFO:1001033", "ICD10CM:E41", "ICD9:261", "MEDGEN:39251", "MedDRA:10026820", "SCTID:29740003", "UMLS:C0086588"]}
{"category": ["biolink:Disease"], "description": "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.", "id": "MONDO:0006849", "name": "Mastitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast infection", "breast inflammation", "inflammation of breast", "inflammatory disease of breast"], "xref": ["DOID:10690", "EFO:1001034", "MEDGEN:9901", "MESH:D008413", "MedDRA:10026883", "NCIT:C53662", "SCTID:45198002", "UMLS:C0024894"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0006850", "name": "Maxillary sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["maxillary antrum neoplasm", "maxillary antrum tumor", "maxillary antrum tumour", "maxillary sinus neoplasm", "maxillary sinus neoplasm (disease)", "maxillary sinus tumor", "maxillary sinus tumour", "maxillofacial sinus neoplasm", "maxillofacial sinus tumor", "maxillofacial sinus tumour", "neoplasm of maxillary antrum", "neoplasm of maxillary sinus", "neoplasm of maxillofacial sinus", "neoplasm of the maxillary antrum", "neoplasm of the maxillary sinus", "neoplasm of the maxillofacial sinus", "tumor of maxillary antrum", "tumor of maxillary sinus", "tumor of the maxillary antrum", "tumor of the maxillary sinus", "tumor of the maxillofacial sinus", "tumour of maxillary antrum", "tumour of maxillary sinus", "tumour of maxillofacial sinus", "tumour of the maxillary antrum", "tumour of the maxillary sinus", "tumour of the maxillofacial sinus"], "xref": ["DOID:1358", "EFO:1001035", "GARD:0024489", "MEDGEN:6247", "MESH:D008444", "MedDRA:10026130", "NCIT:C3219", "SCTID:126676009", "UMLS:C0024958"]}
{"category": ["biolink:Disease"], "description": "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.", "id": "MONDO:0006851", "name": "Meconium aspiration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAS", "meconium aspiration", "meconium aspiration syndrome", "neonatal aspiration of meconium"], "xref": ["DOID:11049", "EFO:1001037", "GARD:0010494", "ICD10CM:P24.0", "ICD9:770.1", "MEDGEN:6258", "MESH:D008471", "MedDRA:10027057", "NCIT:C87093", "Orphanet:70588", "SCTID:206292002", "UMLS:C0025048", "icd11.foundation:872221482"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.", "id": "MONDO:0006853", "name": "Mesenchymal chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mesenchymal chondrosarcoma"], "xref": ["DOID:4545", "EFO:1001041", "GARD:0024490", "ICDO:9240/3", "MEDGEN:104904", "MESH:D018211", "MedDRA:10027389", "NCIT:C3737", "ONCOTREE:MCHS", "UMLS:C0206637"]}
{"category": ["biolink:Disease"], "description": "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.", "id": "MONDO:0006854", "name": "Mesenchymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesenchymoma"], "xref": ["DOID:2668", "EFO:1001042", "ICDO:8990/1", "MEDGEN:7553", "MESH:D008637", "NCIT:C3233", "UMLS:C0025464"]}
{"category": ["biolink:Disease"], "description": "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)", "id": "MONDO:0006855", "name": "Mesenteric vascular occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13252", "EFO:1001043", "MEDGEN:9972", "MESH:D008641", "MedDRA:10074583", "UMLS:C0025472"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003", "id": "MONDO:0006856", "name": "Mesothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesothelial neoplasm", "mesothelial tumor", "mesothelial tumour"], "xref": ["EFO:1001044", "ICD10CM:C45-C49", "MEDGEN:811450", "MESH:D018301", "NCIT:C3786", "UMLS:C3714739"]}
{"category": ["biolink:Disease"], "description": "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.", "id": "MONDO:0006857", "name": "Middle cerebral artery infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3525", "EFO:1001045", "MEDGEN:152845", "MESH:D020244", "UMLS:C0740392"]}
{"category": ["biolink:Disease"], "description": "A disease involving the mouth.", "id": "MONDO:0006858", "name": "Mouth disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of mouth", "disease or disorder of mouth", "disorder of mouth", "mouth disease", "mouth disease or disorder", "oral disease", "oral disorder"], "xref": ["DOID:403", "EFO:1001047", "ICD9:528.9", "MEDGEN:6448", "MESH:D009059", "NCIT:C3240", "SCTID:118938008", "UMLS:C0026636"]}
{"category": ["biolink:Disease"], "description": "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.", "id": "MONDO:0006859", "name": "Mucinous cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma, mucinous, benign", "mucinous adenoma", "mucinous cystadenoma", "mucinous cystoma", "pseudomucinous cystadenoma"], "xref": ["EFO:1001048", "ICDO:8470/0", "ICDO:8480/0", "MEDGEN:8222", "MESH:D018291", "NCIT:C2973", "UMLS:C0010635"]}
{"category": ["biolink:Disease"], "description": "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)", "id": "MONDO:0006861", "name": "Myeloid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chloroma", "extramedullary myeloid tumor", "extramedullary myeloid tumour", "myeloid sarcoma", "sarcoma, myeloid, malignant"], "xref": ["DOID:8683", "EFO:1001052", "GARD:0012763", "ICD10CM:C92.3", "ICD9:205.3", "ICDO:9930/3", "MEDGEN:1656669", "MESH:D023981", "MedDRA:10028562", "NCIT:C3520", "ONCOTREE:MS", "Orphanet:86850", "UMLS:C4721505", "icd11.foundation:1988933820", "icd11.foundation:921720320"]}
{"category": ["biolink:Disease"], "description": "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.", "id": "MONDO:0006862", "name": "Myofascial pain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:431", "EFO:1001054", "GARD:0024491", "ICD9:729.1", "MEDGEN:6496", "MESH:D009209", "MedDRA:10048780", "SCTID:24693007", "UMLS:C0027073"]}
{"category": ["biolink:Disease"], "description": "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.", "id": "MONDO:0006863", "name": "Myxosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["myxosarcoma", "myxosarcoma (morphologic abnormality)", "myxosarcoma, malignant"], "xref": ["DOID:4136", "EFO:1001056", "GARD:0024492", "ICDO:8840/3", "MEDGEN:6508", "MESH:D009236", "NCIT:C3255", "UMLS:C0027155"]}
{"category": ["biolink:Disease"], "description": "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.", "id": "MONDO:0006864", "name": "Necrotizing sialometaplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:12901", "ICD9:527.8", "MEDGEN:48659", "MESH:D012797", "MedDRA:10072176", "SCTID:109769000", "UMLS:C0037033"]}
{"category": ["biolink:Disease"], "description": "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.", "id": "MONDO:0006865", "name": "Necrotizing ulcerative gingivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ANUG", "Vincent angina", "Vincent's angina", "acute necrotising ulcerative gingivitis [ambiguous]", "acute necrotising ulcerative gingivostomatitis [ambiguous]"], "xref": ["DOID:13924", "EFO:1001058", "ICD9:101", "MEDGEN:42219", "MESH:D005892", "NCIT:C34637", "SCTID:186963008", "UMLS:C0017575"]}
{"category": ["biolink:Disease"], "description": "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)", "id": "MONDO:0006866", "name": "Neonatal myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neonatal myasthenia gravis"], "xref": ["DOID:14043", "GARD:0024493", "ICD9:775.2", "MEDGEN:102360", "MESH:D020941", "MedDRA:10028963", "SCTID:82178003", "UMLS:C0158982", "icd11.foundation:1274860004"]}
{"category": ["biolink:Disease"], "description": "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.", "id": "MONDO:0006868", "name": "Neurogenic bowel", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13419", "ICD9:564.81", "MEDGEN:151969", "MESH:D055496", "MedDRA:10048657", "SCTID:425671009", "UMLS:C0695242"]}
{"category": ["biolink:Disease"], "description": "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.", "id": "MONDO:0006869", "name": "Nodular goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["goiter, nodular", "nodular goiter", "nodular goiter (disease)", "nodular goitre (disease)"], "xref": ["DOID:13197", "EFO:1001062", "HP:0005994", "MEDGEN:42271", "MESH:D006044", "MedDRA:10018495", "NCIT:C131437", "SCTID:419153005", "UMLS:C0018023"]}
{"category": ["biolink:Disease"], "description": "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.", "id": "MONDO:0006871", "name": "Non-gestational choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:4320", "EFO:1001064", "GARD:0024494", "MEDGEN:211656", "MESH:D031954", "UMLS:C1135873"]}
{"category": ["biolink:Disease"], "description": "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)", "id": "MONDO:0006873", "name": "Nutritional deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malnourished", "malnutrition"], "xref": ["DOID:5113", "EFO:1001067", "ICD10CM:E40-E46", "ICD9:269.8", "ICD9:269.9", "MEDGEN:1677627", "MESH:D003677", "MedDRA:10046058", "NCIT:C3669", "SCTID:363246002", "SCTID:70241007", "UMLS:C4761312"]}
{"category": ["biolink:Disease"], "description": "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.", "id": "MONDO:0006874", "name": "Obstructive jaundice", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obstructive hyperbilirubinemia"], "xref": ["DOID:13603", "EFO:1001068", "MEDGEN:43988", "MESH:D041781", "MedDRA:10029982", "SCTID:44018007", "UMLS:C0022354"]}
{"category": ["biolink:Disease"], "description": "Abnormally high intraocular pressure.", "id": "MONDO:0006875", "name": "Ocular hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9282", "EFO:1001069", "ICD10CM:H40.05", "ICD9:365.04", "MEDGEN:10423", "MESH:D009798", "MedDRA:10030043", "SCTID:4210003", "UMLS:C0028840", "icd11.foundation:535283437"]}
{"category": ["biolink:Disease"], "description": "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.", "id": "MONDO:0006876", "name": "Ocular tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070344", "EFO:1001070", "GARD:0024495", "ICD9:017.30", "ICD9:017.32", "MEDGEN:52887", "MESH:D014392", "SCTID:49107007", "UMLS:C0041322"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.", "id": "MONDO:0006877", "name": "Oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of ovary", "ovary inflammation"], "xref": ["DOID:10974", "EFO:1001071", "MEDGEN:14486", "MESH:D009869", "MedDRA:10030345", "SCTID:76047005", "UMLS:C0029051"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family moraxellaceae.", "id": "MONDO:0006878", "name": "Moraxellaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Moraxellaceae caused disease or disorder", "Moraxellaceae disease or disorder"], "xref": ["EFO:1001072", "MESH:D045828"]}
{"category": ["biolink:Disease"], "description": "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)", "id": "MONDO:0006879", "name": "Optic papillitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Choked disc", "Choked discs", "Choked disk", "Choked disks", "Edemas, optic disc", "Edemas, optic disk", "decreased intraocular pressure associated papilledema", "decreased intraocular pressure-associated papilledema", "disk, Choked", "disks, Choked", "edema of the optic disk", "edema, optic disc", "edema, optic disk", "edema, optic papilla", "increased intracranial pressure associated papilledema", "increased intracranial pressure-associated papilledema", "inflammation of optic disc", "inflammation of optic disk", "oedema of the optic disc", "optic disc inflammation", "optic disc oedema", "optic discitis", "optic disk edema", "optic disk inflammation", "optic nerve papillitis", "optic papilla edema", "optic papilla oedema", "optic papillitis", "papilledema", "papilledema associated with decreased intraocular pressure", "papilledema associated with increased intracranial pressure", "papillitis", "papillitis, optic", "papillitis, optic nerve", "papilloedema"], "xref": ["DOID:10175", "EFO:1001074", "GARD:0024496", "ICD10CM:H46.0", "ICD9:377.0", "ICD9:377.00", "ICD9:377.01", "ICD9:377.31", "MEDGEN:10565", "MESH:D010211", "MedDRA:10030948", "SCTID:423341008", "SCTID:73221001", "UMLS:C0030353"]}
{"category": ["biolink:Disease"], "description": "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)", "id": "MONDO:0006880", "name": "Oral leukoedema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4557", "ICD9:528.79", "MEDGEN:44132", "MESH:D007967", "MedDRA:10057365", "SCTID:67795000", "UMLS:C0023523"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.", "id": "MONDO:0006881", "name": "Orbital cellulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["orbital cellulitis"], "xref": ["DOID:11234", "EFO:1001076", "ICD9:376.01", "MEDGEN:57681", "MESH:D054517", "MedDRA:10031036", "NCIT:C99000", "SCTID:194005002", "UMLS:C0149507", "icd11.foundation:1330743591"]}
{"category": ["biolink:Disease"], "description": "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.", "id": "MONDO:0006882", "name": "Orchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["orchitis", "orchitis (disease)", "testis inflammation", "testisitis"], "xref": ["DOID:2518", "EFO:1001078", "HP:0100796", "ICD10CM:N45.2", "MEDGEN:18191", "MESH:D009920", "MedDRA:10031064", "NCIT:C97145", "SCTID:274718005", "UMLS:C0029191"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.", "id": "MONDO:0006883", "name": "Malignant superior sulcus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Pancoast tumor", "Pancoast's tumor", "malignant Superior sulcus lung neoplasm", "malignant Superior sulcus lung tumor", "malignant Superior sulcus lung tumour", "malignant Superior sulcus neoplasm", "malignant Superior sulcus neoplasm of lung", "malignant Superior sulcus neoplasm of the lung", "malignant Superior sulcus tumor", "malignant Superior sulcus tumor of lung", "malignant Superior sulcus tumor of the lung", "malignant Superior sulcus tumour of lung", "malignant Superior sulcus tumour of the lung", "malignant pulmonary sulcus neoplasm", "pulmonary sulcus neoplasm, malignant"], "xref": ["DOID:8007", "EFO:1001080", "MEDGEN:107810", "NCIT:C7527", "SCTID:254638002", "UMLS:C0549471"]}
{"category": ["biolink:Disease"], "description": "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.", "id": "MONDO:0006884", "name": "Panophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13732", "GARD:0024497", "ICD10CM:H44.01", "ICD9:360.02", "MEDGEN:10561", "MESH:D010202", "MedDRA:10033683", "SCTID:33382000", "UMLS:C0030332", "icd11.foundation:349386559"]}
{"category": ["biolink:Disease"], "description": "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)", "id": "MONDO:0006886", "name": "Thyroid gland papillary and follicular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["papillary and follicular adenocarcinoma", "papillary and follicular carcinoma", "thyroid gland papillary and follicular carcinoma"], "xref": ["DOID:3968", "EFO:1001083", "GARD:0024498", "MEDGEN:64631", "MESH:D018265", "NCIT:C7380", "UMLS:C0206683"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.", "id": "MONDO:0006887", "name": "Parametritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of parametrium", "parametrium inflammation"], "xref": ["DOID:1260", "EFO:1001084", "MEDGEN:18295", "MESH:D010249", "SCTID:280483007", "UMLS:C0030455"]}
{"category": ["biolink:Disease"], "description": "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.", "id": "MONDO:0006888", "name": "Paraneoplastic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paraneoplastic polyneuropathy"], "xref": ["DOID:8681", "GARD:0024499", "ICD9:357.3", "MEDGEN:124380", "MESH:D020364", "MedDRA:10062289", "NCIT:C3981", "SCTID:77659000", "UMLS:C0270932"]}
{"category": ["biolink:Disease"], "description": "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.", "id": "MONDO:0006889", "name": "Paraphimosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:5334", "EFO:1001086", "ICD10CM:N47.2", "MEDGEN:14611", "MESH:D010263", "MedDRA:10033890", "NCIT:C34893", "SCTID:13758004", "UMLS:C0030483", "icd11.foundation:452889019"]}
{"category": ["biolink:Disease"], "description": "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.", "id": "MONDO:0006890", "name": "Parathyroid gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of parathyroid", "adenoma of parathyroid gland", "adenoma of the parathyroid", "parathyroid adenoma", "parathyroid gland adenoma"], "xref": ["DOID:7608", "EFO:1001087", "HP:0002897", "MEDGEN:75502", "MedDRA:10033940", "NCIT:C156757", "NCIT:C3916", "SCTID:128474007", "UMLS:C0262587"]}
{"category": ["biolink:Disease"], "description": "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.", "id": "MONDO:0006891", "name": "Partial motor epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3327", "EFO:1001089", "ICD9:780.39", "MEDGEN:5237", "MESH:D020938", "SCTID:128612007", "UMLS:C0016399"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).", "id": "MONDO:0006892", "name": "Partial sensory epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3330", "MEDGEN:107460", "MESH:D020937", "UMLS:C0544645"]}
{"category": ["biolink:Disease"], "description": "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.", "id": "MONDO:0006893", "name": "Pasteurella hemorrhagic septicemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001091", "GARD:0027768", "MESH:D006483", "SCTID:198462004"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.", "id": "MONDO:0006894", "name": "Patellofemoral pain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:14284", "EFO:1001092", "MEDGEN:164080", "MESH:D046788", "MedDRA:10049143", "SCTID:430725003", "UMLS:C0877149"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.", "id": "MONDO:0006895", "name": "Penile neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of penis", "neoplasm of the penis", "penile neoplasm", "penile neoplasms", "penile tumor", "penile tumour", "penis neoplasm", "penis neoplasm (disease)", "penis tumor", "penis tumour", "tumor of penis", "tumor of the penis", "tumour of penis", "tumour of the penis"], "xref": ["DOID:11624", "EFO:1001094", "ICD9:239.5", "MEDGEN:14656", "MESH:D010412", "MedDRA:10061913", "NCIT:C3317", "ONCOTREE:PENIS", "SCTID:126896003", "UMLS:C0030849"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.", "id": "MONDO:0006896", "name": "Peptic esophagitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13976", "EFO:1001095", "ICD9:530.11", "MEDGEN:5028", "MESH:D004942", "SCTID:57643001", "UMLS:C0014869"]}
{"category": ["biolink:Disease"], "description": "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.", "id": "MONDO:0006897", "name": "Periapical granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4617", "EFO:1001096", "MEDGEN:45395", "MESH:D010484", "MedDRA:10060985", "SCTID:81407003", "UMLS:C0031029"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the tissues around a joint. (Dorland, 27th ed)", "id": "MONDO:0006898", "name": "Periarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2964", "EFO:1001097", "MEDGEN:45397", "MESH:D010489", "MedDRA:10034464", "SCTID:50921008", "UMLS:C0031037"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the gingiva surrounding the crown of a tooth.", "id": "MONDO:0006899", "name": "Pericoronitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3671", "EFO:1001098", "MEDGEN:45399", "MESH:D010497", "MedDRA:10034504", "SCTID:22240003", "UMLS:C0031055", "icd11.foundation:1764886525"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the connective and adipose tissues surrounding the kidney.", "id": "MONDO:0006900", "name": "Perinephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of perirenal fat", "perirenal fat inflammation"], "xref": ["DOID:2982", "EFO:1001099", "MEDGEN:10656", "MESH:D010501", "MedDRA:10072058", "SCTID:111404004", "UMLS:C0031065"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.", "id": "MONDO:0006901", "name": "Peritoneal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of peritoneum", "peritoneal neoplasm", "peritoneum neoplasm", "peritoneum neoplasm (disease)", "peritoneum tumor", "peritoneum tumour", "tumor of peritoneum", "tumour of peritoneum"], "xref": ["EFO:1001100", "MEDGEN:18392", "MESH:D010534", "MedDRA:10061344", "NCIT:C3322", "SCTID:126865007", "UMLS:C0031149"]}
{"category": ["biolink:Disease"], "description": "Paralysis of the nerves located in the legs.", "id": "MONDO:0006903", "name": "Peroneal nerve paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nerve palsy, peroneal", "palsy, peroneal nerve"], "xref": ["DOID:6925", "EFO:1001102", "MEDGEN:78733", "MedDRA:10033828", "NCIT:C27061", "SCTID:399088004", "UMLS:C0270810"]}
{"category": ["biolink:Disease"], "description": "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.", "id": "MONDO:0006904", "name": "Phimosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2712", "EFO:1001104", "ICD10CM:N47.1", "MEDGEN:87496", "MESH:D010688", "MedDRA:10034878", "NCIT:C26852", "SCTID:449826002", "UMLS:C0345326", "icd11.foundation:184957512"]}
{"category": ["biolink:Disease"], "description": "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.", "id": "MONDO:0006905", "name": "Pigmented spindle cell nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["spindle cell Nevus of Reed"], "xref": ["MEDGEN:105378", "MESH:D018331", "NCIT:C4751", "SCTID:254812004", "UMLS:C0474967"]}
{"category": ["biolink:Disease"], "description": "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.", "id": "MONDO:0006907", "name": "Pilar sheath acanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Infundibuloisthmicoma", "Pilar sheath acanthoma", "acanthoma of Pilar sheath", "acanthoma of the Pilar sheath"], "xref": ["DOID:4322", "MEDGEN:83398", "NCIT:C4468", "SCTID:254693008", "UMLS:C0346005", "icd11.foundation:281473034"]}
{"category": ["biolink:Disease"], "description": "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.", "id": "MONDO:0006908", "name": "Pituitary apoplexy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pituitary gland apoplexy"], "xref": ["DOID:1129", "EFO:1001108", "GARD:0019287", "ICD9:253.8", "MEDGEN:18489", "MESH:D010899", "MedDRA:10056447", "NCIT:C26853", "Orphanet:95613", "SCTID:237701005", "UMLS:C0032001", "icd11.foundation:1938573221"]}
{"category": ["biolink:Disease"], "description": "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.", "id": "MONDO:0006909", "name": "Pituitary dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001109", "ICD9:253.3", "MEDGEN:8506", "MESH:D004393", "MedDRA:10035083", "SCTID:367460001", "UMLS:C0013338"]}
{"category": ["biolink:Disease"], "description": "The presence of gas within the wall of the large or small intestine.", "id": "MONDO:0006912", "name": "Pneumatosis cystoides intestinalis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13249", "EFO:1001113", "ICD9:569.89", "MEDGEN:18527", "MESH:D011006", "MedDRA:10049732", "SCTID:17465007", "UMLS:C0032266"]}
{"category": ["biolink:Disease"], "description": "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)", "id": "MONDO:0006913", "name": "Pneumococcal meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Streptococcus pneumoniae caused infectious meningitis", "Streptococcus pneumoniae infectious meningitis"], "xref": ["EFO:1001114", "GARD:0018849", "ICD10CM:G00.1", "ICD9:320.1", "MEDGEN:44354", "MESH:D008586", "MedDRA:10027253", "MedDRA:10035645", "NCIT:C157958", "Orphanet:55655", "SCTID:51169003", "UMLS:C0025295"]}
{"category": ["biolink:Disease"], "description": "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.", "id": "MONDO:0006915", "name": "Polyradiculoneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:4308", "EFO:1001116", "GARD:0024500", "MEDGEN:46012", "MESH:D011129", "SCTID:128078004", "UMLS:C0032587"]}
{"category": ["biolink:Disease"], "description": "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.", "id": "MONDO:0006916", "name": "Postcholecystectomy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9740", "EFO:1001117", "ICD10CM:K91.5", "ICD9:576.0", "MEDGEN:101815", "MESH:D017562", "SCTID:90782003", "UMLS:C0152099", "icd11.foundation:157319976"]}
{"category": ["biolink:Disease"], "description": "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).", "id": "MONDO:0006917", "name": "Posterior cerebral artery infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:3821", "EFO:1001118", "MEDGEN:199818", "MESH:D020762", "UMLS:C0752132"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.", "id": "MONDO:0006918", "name": "Posterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["chorioretinal region inflammation", "inflammation of chorioretinal region"], "xref": ["DOID:12574", "EFO:1001119", "GARD:0024501", "MEDGEN:22597", "MESH:D015866", "MedDRA:10036370", "SCTID:43363007", "UMLS:C0042167"]}
{"category": ["biolink:Disease"], "description": "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)", "id": "MONDO:0006919", "name": "Potassium deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001120", "MEDGEN:10874", "MESH:D011191", "MedDRA:10036445", "UMLS:C0032827"]}
{"category": ["biolink:Disease"], "description": "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "id": "MONDO:0006920", "name": "Prediabetes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["borderline diabetes", "prediabetes"], "xref": ["DOID:11716", "EFO:1001121", "MEDGEN:83928", "MESH:D011236", "MedDRA:10065542", "NCIT:C122685", "UMLS:C0362046", "icd11.foundation:1583355636"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the order actinomycetales.", "id": "MONDO:0006921", "name": "Actinomycetales infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["actinomycetales caused disease or disorder", "actinomycetales disease or disorder", "actinomycetales infection", "actinomycetales infections", "actinomycete infection", "actinomycete infections", "actinomycotic infection", "actinomycotic infectious disease", "infection, actinomycetales", "infection, actinomycete", "infections, actinomycetales", "infections, actinomycete"], "xref": ["EFO:1001122", "ICD9:039.8", "ICD9:039.9", "MEDGEN:1732", "MESH:D000193", "NCIT:C84534", "SCTID:11817007", "SCTID:721751007", "UMLS:C0001255"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family anaplasmataceae.", "id": "MONDO:0006922", "name": "Anaplasmataceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Anaplasmataceae caused disease or disorder", "Anaplasmataceae disease or disorder"], "xref": ["GARD:0024502", "MESH:D000711", "SCTID:422167001"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family bacillaceae.", "id": "MONDO:0006923", "name": "Bacillaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bacillaceae caused disease or disorder", "Bacillaceae disease or disorder"], "xref": ["MEDGEN:39271", "MESH:D016863", "UMLS:C0085389"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family bartonellaceae.", "id": "MONDO:0006924", "name": "Bartonellaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bartonellaceae caused disease or disorder", "Bartonellaceae disease or disorder"], "xref": ["MEDGEN:2171", "MESH:D001476", "UMLS:C0004773"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.", "id": "MONDO:0006925", "name": "Fusobacteriaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Fusobacteriaceae caused disease or disorder", "Fusobacteriaceae disease or disorder"], "xref": ["MEDGEN:263530", "MESH:D045825", "UMLS:C1258222"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus haemophilus.", "id": "MONDO:0006926", "name": "Haemophilus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Haemophilus caused disease or disorder", "Haemophilus disease or disorder", "Haemophilus infectious disease", "haemophilus infectious disease"], "xref": ["EFO:1001127", "MESH:D006192", "NCIT:C34654", "SCTID:41659003"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family rickettsiaceae.", "id": "MONDO:0006927", "name": "Rickettsiaceae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Rickettsiaceae caused disease or disorder", "Rickettsiaceae disease or disorder"], "xref": ["EFO:1001128", "GARD:0024503", "MESH:D012288"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus proteus.", "id": "MONDO:0006929", "name": "Proteus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Proteus enterobacteria caused disease or disorder", "Proteus enterobacteria disease or disorder", "Proteus enterobacteria infectious disease"], "xref": ["MEDGEN:46164", "MESH:D011512", "SCTID:186437007", "UMLS:C0033700"]}
{"category": ["biolink:Disease"], "description": "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.", "id": "MONDO:0006930", "name": "Pseudobulbar palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pseudobulbar palsy"], "xref": ["DOID:12680", "EFO:1001131", "ICD9:335.23", "MEDGEN:10989", "MESH:D020828", "MedDRA:10037114", "NCIT:C129934", "SCTID:7379000", "UMLS:C0033790"]}
{"category": ["biolink:Disease"], "description": "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.", "id": "MONDO:0006931", "name": "Pulmonary coin lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["coin lesion of lung (context-dependent category)", "coin lesion of lung (finding)"], "xref": ["DOID:5364", "MEDGEN:3522", "MESH:D003074", "UMLS:C0009250"]}
{"category": ["biolink:Disease"], "description": "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).", "id": "MONDO:0006932", "name": "Pulmonary edema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["edema, pulmonary"], "xref": ["DOID:11396", "EFO:1001134", "ICD10CM:J81", "MEDGEN:11026", "MESH:D011654", "MedDRA:10037375", "NCIT:C26868", "SCTID:19242006", "UMLS:C0034063"]}
{"category": ["biolink:Disease"], "description": "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.", "id": "MONDO:0006933", "name": "Pulmonary plasma cell granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3677", "ICD9:518.89", "MEDGEN:38832", "MESH:D016726", "SCTID:1648002", "UMLS:C0085269", "icd11.foundation:215620908"]}
{"category": ["biolink:Disease"], "description": "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.", "id": "MONDO:0006935", "name": "Pulmonary subvalvular stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital infundibular stenosis", "infundibular pulmonic stenosis, congenital", "pulmonary infundibular stenosis", "subvalvular pulmonic stenosis"], "xref": ["DOID:8861", "EFO:1001137", "ICD10CM:Q24.3", "ICD9:746.83", "MEDGEN:11030", "MESH:D011662", "NANDO:2100092", "NANDO:2200276", "NCIT:C34961", "SCTID:204370002", "UMLS:C0034084"]}
{"category": ["biolink:Disease"], "description": "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.", "id": "MONDO:0006936", "name": "Pulmonary valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:6420", "EFO:1001138", "MEDGEN:18768", "MESH:D011666", "MedDRA:10037450", "NANDO:2200304", "UMLS:C0034089", "icd11.foundation:611886666"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the dental pulp.", "id": "MONDO:0006937", "name": "Pulpitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dental pulp inflammation", "inflammation of dental pulp"], "xref": ["DOID:11121", "EFO:1001139", "ICD10CM:K04.0", "ICD9:522.0", "MEDGEN:19580", "MESH:D011671", "MedDRA:10037463", "SCTID:32620007", "UMLS:C0034103", "icd11.foundation:576344431"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the renal pelvis.", "id": "MONDO:0006938", "name": "Pyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of renal pelvis", "renal pelvis inflammation"], "xref": ["DOID:2744", "MEDGEN:48268", "MESH:D011702", "MedDRA:10037584", "NCIT:C34964", "SCTID:27174002", "UMLS:C0034183"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.", "id": "MONDO:0006939", "name": "Pyelonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["kidney infection"], "xref": ["DOID:11400", "EFO:1001141", "ICD9:590.80", "MEDGEN:19590", "MESH:D011704", "MedDRA:10037596", "NCIT:C34965", "SCTID:45816000", "UMLS:C0034186"]}
{"category": ["biolink:Disease"], "description": "A peripheral nerve lesion that involves the radial nerve.", "id": "MONDO:0006940", "name": "Radial nerve lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lesion of radial nerve", "peripheral nerve lesion of radial nerve", "radial nerve peripheral nerve lesion"], "xref": ["DOID:12170", "EFO:1001143", "GARD:0024504", "ICD10CM:G56.3", "ICD9:354.3", "MEDGEN:102317", "MedDRA:10061477", "SCTID:193137006", "UMLS:C0154744"]}
{"category": ["biolink:Disease"], "description": "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.", "id": "MONDO:0006941", "name": "Rat-bite fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Streptobacillosis", "spirillosis"], "xref": ["EFO:1001144", "GARD:0009557", "ICD9:026.9", "MEDGEN:11123", "MESH:D011906", "MedDRA:10037904", "NCIT:C34971", "Orphanet:31205", "SCTID:1685005", "UMLS:C0034686", "icd11.foundation:1026551291"]}
{"category": ["biolink:Disease"], "description": "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.", "id": "MONDO:0006944", "name": "Renal aminoaciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0006774", "MEDGEN:254", "MESH:D000608", "MedDRA:10001939", "SCTID:35912001", "UMLS:C0002534"]}
{"category": ["biolink:Disease"], "description": "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).", "id": "MONDO:0006945", "name": "Renal artery obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2972", "EFO:1001150", "MEDGEN:48406", "MESH:D012078", "UMLS:C0035066"]}
{"category": ["biolink:Disease"], "description": "Abnormalities of bone mineral metabolism associated with chronic kidney disease.", "id": "MONDO:0006946", "name": "Renal osteodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["renal rickets"], "xref": ["DOID:13068", "EFO:1001152", "GARD:0007551", "ICD10CM:N25.0", "ICD9:588.0", "MEDGEN:20524", "MESH:D012080", "MedDRA:10038489", "SCTID:16726004", "UMLS:C0035086"]}
{"category": ["biolink:Disease"], "description": "High blood pressure secondary to renal artery stenosis.", "id": "MONDO:0006947", "name": "Renovascular hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["renovascular hypertension", "renovascular hypertension (disease)"], "xref": ["DOID:1591", "EFO:1001153", "HP:0100817", "ICD10CM:I15.0", "ICD9:405.91", "MEDGEN:43786", "NANDO:2100016", "NANDO:2200141", "SCTID:123799005", "UMLS:C0020545", "icd11.foundation:422807701"]}
{"category": ["biolink:Disease"], "description": "An occlusion of the retinal artery.", "id": "MONDO:0006948", "name": "Retinal artery occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:8483", "EFO:1001154", "MEDGEN:11208", "MESH:D015356", "MedDRA:10038827", "NCIT:C34978", "SCTID:232035005", "UMLS:C0035302"]}
{"category": ["biolink:Disease"], "description": "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.", "id": "MONDO:0006949", "name": "Retinal drusen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2569", "EFO:1001155", "ICD9:362.57", "MEDGEN:20549", "MESH:D015593", "MedDRA:10062776", "SCTID:247153005", "UMLS:C0035312"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.", "id": "MONDO:0006950", "name": "Retinal vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["retinal vasculitis"], "xref": ["DOID:11563", "EFO:1001156", "GARD:0024505", "ICD10CM:H35.06", "ICD9:362.18", "MEDGEN:57503", "MESH:D031300", "MedDRA:10038905", "SCTID:77628002", "UMLS:C0152026", "icd11.foundation:1863208483"]}
{"category": ["biolink:Disease"], "description": "An occlusion of the retinal vein.", "id": "MONDO:0006951", "name": "Retinal vein occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["retinal vein occlusion"], "xref": ["DOID:1727", "EFO:1001157", "MEDGEN:19763", "MESH:D012170", "MedDRA:10038907", "NCIT:C34981", "SCTID:46085004", "UMLS:C0035328"]}
{"category": ["biolink:Disease"], "description": "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.", "id": "MONDO:0006952", "name": "Retinopathy of prematurity", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ROP", "Terry syndrome", "retrolental fibroplasia"], "xref": ["DOID:13025", "EFO:1001158", "GARD:0005695", "ICD10CM:H35.1", "ICD10CM:H35.17", "ICD9:362.20", "ICD9:362.21", "MEDGEN:48438", "MESH:D012178", "MedDRA:10038933", "NCIT:C34982", "NORD:1663", "Orphanet:90050", "SCTID:415297005", "UMLS:C0035344", "icd11.foundation:947283385"]}
{"category": ["biolink:Disease"], "description": "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.", "id": "MONDO:0006953", "name": "Rh isoimmunization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:4175", "EFO:1001159", "MEDGEN:11224", "MedDRA:10039016", "SCTID:44795003", "UMLS:C0035404"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.", "id": "MONDO:0006955", "name": "Rheumatic heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["RHD", "disease, rheumatic heart", "heart disease, rheumatic", "rheumatic carditis"], "xref": ["DOID:0050827", "EFO:1001161", "ICD9:398.90", "ICD9:398.99", "MEDGEN:20565", "MESH:D012214", "MedDRA:10062110", "NCIT:C34882", "SCTID:23685000", "UMLS:C0035439", "icd11.foundation:291726710"]}
{"category": ["biolink:Disease"], "description": "A group of infectious diseases that is caused by Rickettsia.", "id": "MONDO:0006956", "name": "Rickettsiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Rickettsia caused disease or disorder", "Rickettsia disease or disorder", "Rickettsia infection", "Rickettsia infectious disease", "Rickettsiae disease", "Rickettsial disease", "Rickettsial infectious disease", "Rickettsial infectious disorder", "Rickettsiosis", "infection, Rickettsia", "infections, Rickettsia"], "xref": ["EFO:1001162", "GARD:0019827", "ICD10CM:A75-A79", "ICD9:083.9", "MEDGEN:20584", "MESH:D012282", "MedDRA:10061495", "NCIT:C34991", "Orphanet:102021", "SCTID:37246009", "UMLS:C0035585"]}
{"category": ["biolink:Disease"], "description": "Dental caries involving the tooth root, cementum, or cervical area of the tooth.", "id": "MONDO:0006957", "name": "Root caries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cementum dental caries", "dental caries of cementum", "dental caries of root surface"], "xref": ["DOID:14089", "EFO:1001163", "ICD9:521.08", "MEDGEN:57954", "MESH:D017213", "SCTID:30512007", "UMLS:C0162644"]}
{"category": ["biolink:Disease"], "description": "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)", "id": "MONDO:0006960", "name": "Sciatic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11446", "EFO:1001166", "MEDGEN:57705", "MESH:D020426", "MedDRA:10048950", "SCTID:52585001", "UMLS:C0149940"]}
{"category": ["biolink:Disease"], "description": "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.", "id": "MONDO:0006961", "name": "Scrapie", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:5434", "EFO:1001168", "GARD:0024508", "MEDGEN:19903", "MESH:D012608", "UMLS:C0036457"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.", "id": "MONDO:0006962", "name": "Sebaceous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenocarcinoma, sebaceous, malignant", "carcinoma of sebaceous gland", "carcinoma of the sebaceous gland", "sebaceous cancer", "sebaceous carcinoma", "sebaceous gland adenocarcinoma", "sebaceous gland carcinoma"], "xref": ["DOID:4839", "DOID:4840", "EFO:1001171", "ICDO:8410/3", "MEDGEN:64632", "MESH:D018266", "NCIT:C40310", "ONCOTREE:SEBA", "SCTID:307599002", "UMLS:C0206684"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.", "id": "MONDO:0006963", "name": "Sebaceous gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of sebaceous gland", "sebaceous gland neoplasm", "sebaceous gland neoplasm (disease)", "sebaceous gland tumor", "sebaceous gland tumour", "sebaceous neoplasm", "sebaceous tumor", "sebaceous tumour", "tumor of sebaceous gland", "tumour of sebaceous gland"], "xref": ["DOID:5759", "EFO:1001172", "ICD9:239.2", "MEDGEN:19911", "MESH:D012626", "NCIT:C3363", "SCTID:126491004", "UMLS:C0036503"]}
{"category": ["biolink:Disease"], "description": "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.", "id": "MONDO:0006964", "name": "Secondary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["secondary hyperparathyroidism", "secondary hyperparathyroidism (disease)"], "xref": ["DOID:12466", "EFO:1001173", "HP:0000867", "MEDGEN:9368", "MESH:D006962", "MedDRA:10020708", "NCIT:C113335", "SCTID:91478007", "UMLS:C0020503", "icd11.foundation:1442752937"]}
{"category": ["biolink:Disease"], "description": "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)", "id": "MONDO:0006965", "name": "Secondary hypertrophic osteoarthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypertrophic pulmonary osteoarthropathy", "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]"], "xref": ["DOID:10393", "EFO:1001174", "ICD9:731.2", "MEDGEN:18211", "MESH:D010005", "SCTID:203357004", "UMLS:C0029412", "icd11.foundation:1325516156"]}
{"category": ["biolink:Disease"], "description": "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.", "id": "MONDO:0006966", "name": "Secondary parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["secondary Parkinsonism", "secondary parkinsonism (disorder) [ambiguous]", "secondary parkinsonism, unspecified"], "xref": ["DOID:13548", "EFO:1001175", "ICD10CM:G21", "ICD9:332.1", "MEDGEN:10592", "MESH:D010302", "NCIT:C34899", "SCTID:265377002", "UMLS:C0030569"]}
{"category": ["biolink:Disease"], "description": "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)", "id": "MONDO:0006968", "name": "Shoulder impingement syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["shoulder impingement syndrome (disorder) [ambiguous]"], "xref": ["DOID:14276", "EFO:1001178", "ICD10CM:M75.4", "ICD9:726.2", "MEDGEN:138249", "MESH:D019534", "MedDRA:10049039", "SCTID:202849001", "UMLS:C0376685"]}
{"category": ["biolink:Disease"], "description": "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.", "id": "MONDO:0006969", "name": "Sialadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lymphadenitis (disease) of saliva-secreting gland", "saliva-secreting gland lymphadenitis (disease)", "sialitis", "sialoadenitis"], "xref": ["DOID:10303", "EFO:1001179", "ICD10CM:K11.2", "ICD9:527.2", "MEDGEN:48657", "MESH:D012793", "MedDRA:10040627", "NCIT:C115165", "NCIT:C26882", "SCTID:42982001", "UMLS:C0037023"]}
{"category": ["biolink:Disease"], "description": "A concretion in the salivary gland.", "id": "MONDO:0006970", "name": "Sialolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Stone of salivary gland or duct", "sialolith"], "xref": ["DOID:12905", "EFO:1001180", "ICD10CM:K11.5", "ICD9:527.5", "MEDGEN:48536", "MESH:D015494", "MedDRA:10040631", "SCTID:28826002", "UMLS:C0036091", "icd11.foundation:1984849248"]}
{"category": ["biolink:Disease"], "description": "Tumors or cancer of the sigmoid colon.", "id": "MONDO:0006971", "name": "Sigmoid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of sigmoid colon", "sigmoid colon neoplasm", "sigmoid colon neoplasm (disease)", "sigmoid colon tumor", "sigmoid colon tumour", "tumor of sigmoid colon", "tumour of sigmoid colon"], "xref": ["DOID:1896", "EFO:1001181", "MEDGEN:20753", "MESH:D012811", "MedDRA:10026456", "SCTID:126845000", "UMLS:C0037073"]}
{"category": ["biolink:Disease"], "description": "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.", "id": "MONDO:0006972", "name": "Silo filler disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["silo filler disease"], "xref": ["DOID:4374", "MEDGEN:11428", "MESH:D012832", "SCTID:61233003", "UMLS:C0037120", "icd11.foundation:1960063586"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.", "id": "MONDO:0006973", "name": "Skin appendage carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adnexal carcinoma", "carcinoma of adnexa", "carcinoma of cutaneous appendage", "carcinoma of skin appendage", "carcinoma, adnexal, malignant", "cutaneous appendage carcinoma", "skin appendage carcinoma"], "xref": ["EFO:1001183", "ICDO:8390/3", "MEDGEN:60209", "MESH:D018280", "MedDRA:10040798", "NCIT:C3775", "ONCOTREE:SKAC", "UMLS:C0206697"]}
{"category": ["biolink:Disease"], "description": "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.", "id": "MONDO:0006974", "name": "Small cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["small cell sarcoma", "small cell sarcomas"], "xref": ["DOID:3098", "EFO:1001184", "ICDO:8803/3", "MEDGEN:60201", "MESH:D018228", "NCIT:C3746", "UMLS:C0206652"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant myomatous neoplasm arising from smooth muscle.", "id": "MONDO:0006975", "name": "Smooth muscle tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of smooth muscle", "neoplasm of the smooth muscle", "smooth muscle neoplasm", "smooth muscle tumor", "tumor of smooth muscle", "tumor of the smooth muscle", "tumour of smooth muscle", "tumour of the smooth muscle"], "xref": ["DOID:4310", "EFO:1001185", "MEDGEN:104911", "MESH:D018235", "NCIT:C3751", "UMLS:C0206658"]}
{"category": ["biolink:Disease"], "description": "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.", "id": "MONDO:0006976", "name": "Somatostatinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Delta cell tumor", "Delta cell tumour", "somatostatin cell tumor", "somatostatin producing tumor", "somatostatin producing tumour", "somatostatin-producing NET", "somatostatin-producing neuroendocrine tumor", "somatostatin-producing neuroendocrine tumour", "somatostatin-producing tumor", "somatostatin-producing tumour", "somatostatinoma", "tumor of Delta cells", "tumor of the Delta cells", "tumour of Delta cells", "tumour of the Delta cells"], "xref": ["DOID:4430", "EFO:1001187", "GARD:0004900", "ICD9:235.5", "ICDO:8156/1", "MEDGEN:52416", "MESH:D013005", "MedDRA:10041329", "NCIT:C3379", "Orphanet:97283", "SCTID:253006001", "UMLS:C0037661", "icd11.foundation:219879696"]}
{"category": ["biolink:Disease"], "description": "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.", "id": "MONDO:0006977", "name": "Spermatocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:11997", "EFO:1001189", "ICD10CM:N43.4", "ICD9:608.1", "MEDGEN:20857", "MESH:D013088", "MedDRA:10041490", "SCTID:49263001", "UMLS:C0037859", "icd11.foundation:1907004531"]}
{"category": ["biolink:Disease"], "description": "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)", "id": "MONDO:0006978", "name": "Splenic infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2533", "EFO:1001190", "GARD:0009973", "ICD10CM:D73.5", "ICD9:289.59", "MEDGEN:52468", "MESH:D013159", "MedDRA:10041648", "SCTID:22996003", "UMLS:C0037998"]}
{"category": ["biolink:Disease"], "description": "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).", "id": "MONDO:0006980", "name": "Struma ovarii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["struma ovarii", "struma ovarii (morphologic abnormality)", "struma ovarii NOS (morphologic abnormality)"], "xref": ["DOID:2640", "EFO:1001192", "GARD:0024509", "ICDO:9090/0", "MEDGEN:20977", "MESH:D013330", "NCIT:C7468", "UMLS:C0038478", "icd11.foundation:185581438"]}
{"category": ["biolink:Disease"], "description": "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.", "id": "MONDO:0006981", "name": "Subacute bacterial endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SBE", "Subacute bacterial endocarditis"], "xref": ["DOID:4562", "EFO:1001193", "GARD:0024510", "MEDGEN:41780", "MESH:D004698", "MedDRA:10042271", "NCIT:C34583", "SCTID:73774007", "UMLS:C0014122", "icd11.foundation:933942548"]}
{"category": ["biolink:Disease"], "description": "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.", "id": "MONDO:0006982", "name": "Subacute thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["De Quervain thyroiditis", "De Quervain's thyroiditis", "DeQuervain thyroiditis", "Subacute granulomatous thyroiditis", "Subacute thyroiditis", "de Quervain's thyroiditis", "giant-cell thyroiditis", "granulomatous thyroiditis"], "xref": ["DOID:7165", "EFO:1001194", "ICD10CM:E06.1", "ICD9:245.1", "MEDGEN:21549", "MESH:D013968", "MedDRA:10042298", "NCIT:C35071", "NCIT:C35828", "SCTID:428041004", "UMLS:C0040149", "icd11.foundation:1320394379"]}
{"category": ["biolink:Disease"], "description": "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.", "id": "MONDO:0006983", "name": "Subclavian steal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["subclavian artery stenosis"], "xref": ["DOID:13002", "ICD9:435.2", "MEDGEN:20983", "MESH:D013349", "MedDRA:10042335", "NCIT:C35044", "SCTID:15258001", "UMLS:C0038531", "icd11.foundation:2123391417"]}
{"category": ["biolink:Disease"], "description": "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.", "id": "MONDO:0006984", "name": "Subdural empyema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:11389", "EFO:1001196", "GARD:0024511", "MEDGEN:52531", "MESH:D013354", "MedDRA:10042360", "SCTID:37660004", "UMLS:C0038539"]}
{"category": ["biolink:Disease"], "description": "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.", "id": "MONDO:0006986", "name": "Substernal goiter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:13200", "MEDGEN:9066", "MESH:D006045", "SCTID:66392007", "UMLS:C0018024"]}
{"category": ["biolink:Disease"], "description": "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.", "id": "MONDO:0006987", "name": "Subvalvular aortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:5805", "EFO:1001199", "GARD:0005052", "MEDGEN:90950", "MESH:D001020", "MedDRA:10042431", "NANDO:2100093", "NANDO:2200277", "NCIT:C85172", "SCTID:204368006", "UMLS:C0340375"]}
{"category": ["biolink:Disease"], "description": "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)", "id": "MONDO:0006988", "name": "Sulfhemoglobinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sulfemoglobinemia"], "xref": ["DOID:12451", "EFO:1001200", "GARD:0024512", "MEDGEN:52562", "MESH:D013436", "MedDRA:10042481", "SCTID:32117000", "UMLS:C0038732"]}
{"category": ["biolink:Disease"], "description": "Localized collection of pus in the tissues that enclose the root of a tooth.", "id": "MONDO:0006989", "name": "Suppurative periapical periodontitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dentoalveolar abscess", "periapical dental abscess"], "xref": ["DOID:2562", "EFO:1001202", "MEDGEN:10652", "MESH:D010482", "NCIT:C34913", "UMLS:C0031024"]}
{"category": ["biolink:Disease"], "description": "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.", "id": "MONDO:0006990", "name": "Suppurative uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:13140", "GARD:0024513", "MEDGEN:22598", "MESH:D015829", "UMLS:C0042168"]}
{"category": ["biolink:Disease"], "description": "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.", "id": "MONDO:0006992", "name": "Syphilitic aortitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001206", "GARD:0027769", "ICD10CM:A52.02", "ICD9:093.1", "MEDGEN:364", "MedDRA:10042900", "SCTID:20735004", "UMLS:C0003511", "icd11.foundation:921262131"]}
{"category": ["biolink:Disease"], "description": "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.", "id": "MONDO:0006993", "name": "Systolic heart failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:9651", "EFO:1001207", "ICD9:428.2", "ICD9:428.20", "MEDGEN:210050", "MESH:D054143", "MedDRA:10074631", "SCTID:417996009", "UMLS:C1135191"]}
{"category": ["biolink:Disease"], "description": "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.", "id": "MONDO:0006994", "name": "Tarsal tunnel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:12526", "EFO:1001208", "GARD:0007733", "ICD10CM:G57.5", "ICD9:355.5", "MEDGEN:52646", "MESH:D013641", "MedDRA:10043121", "NCIT:C85183", "SCTID:47374004", "UMLS:C0039319", "icd11.foundation:854657246"]}
{"category": ["biolink:Disease"], "description": "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.", "id": "MONDO:0006995", "name": "Tethered spinal cord syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spinal cord syndrome", "tethered cord"], "xref": ["DOID:1089", "EFO:1001210", "ICD9:741", "ICD9:756.19", "MEDGEN:36387", "NCIT:C99080", "SCTID:249491000119100", "UMLS:C0080218"]}
{"category": ["biolink:Disease"], "description": "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.", "id": "MONDO:0006996", "name": "Thyroid crisis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["thyroid crisis", "thyroid crisis (disease)", "thyroid storm", "thyrotoxic crisis"], "xref": ["DOID:12837", "EFO:1001212", "HP:0011782", "ICD9:242.81", "ICD9:242.91", "MEDGEN:11813", "MESH:D013958", "MedDRA:10043705", "NCIT:C112836", "SCTID:29028009", "UMLS:C0040127", "icd11.foundation:1215823328"]}
{"category": ["biolink:Disease"], "description": "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)", "id": "MONDO:0006997", "name": "Tibial neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tibial neuropathy (disorder) [ambiguous]"], "xref": ["DOID:1187", "MEDGEN:148422", "MESH:D020429", "SCTID:399076001", "UMLS:C0751932"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the tonsil.", "id": "MONDO:0006998", "name": "Tonsil cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant neoplasm of the tonsil", "malignant neoplasm of tonsil", "malignant tonsil neoplasm", "malignant tonsil tumor", "malignant tonsil tumour", "malignant tonsillar neoplasm", "malignant tonsillar tumor", "malignant tonsillar tumour", "malignant tumor of the tonsil", "malignant tumor of tonsil", "malignant tumour of the tonsil", "malignant tumour of tonsil", "tonsil cancer"], "xref": ["DOID:8858", "EFO:1001214", "GARD:0027770", "ICD10CM:C09", "ICD9:146.0", "MEDGEN:148341", "MESH:D014067", "MedDRA:10044002", "NCIT:C7404", "SCTID:363393007", "UMLS:C0751560", "icd11.foundation:2044833589"]}
{"category": ["biolink:Disease"], "description": "A disease involving the calcareous tooth.", "id": "MONDO:0006999", "name": "Tooth disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calcareous tooth disease", "calcareous tooth disease or disorder", "dental disorder", "disease of calcareous tooth", "disease or disorder of calcareous tooth", "disorder of calcareous tooth", "tooth disorder"], "xref": ["DOID:1091", "EFO:1001216", "MEDGEN:11852", "MESH:D014076", "NCIT:C35077", "SCTID:234947003", "UMLS:C0040435"]}
{"category": ["biolink:Disease"], "description": "An disease caused by infection with Treponema.", "id": "MONDO:0007000", "name": "Treponema infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Treponema caused disease or disorder", "Treponema disease or disorder"], "xref": ["EFO:1001217", "GARD:0007798", "MESH:D014211", "NCIT:C85197"]}
{"category": ["biolink:Disease"], "description": "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.", "id": "MONDO:0007001", "name": "Tricuspid valve prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["tricuspid valve prolapse", "tricuspid valve prolapse (disease)"], "xref": ["DOID:5644", "EFO:1001218", "HP:0001704", "MEDGEN:11912", "MESH:D014263", "MedDRA:10066862", "Orphanet:95458", "SCTID:253383003", "UMLS:C0040962", "icd11.foundation:973833808"]}
{"category": ["biolink:Disease"], "description": "A disease involving the trochlear nerve.", "id": "MONDO:0007002", "name": "Trochlear nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IVth cranial nerve disorder", "IVth nerve disorder", "disease of trochlear nerve", "disease or disorder of trochlear nerve", "disorder of trochlear nerve", "trochlear nerve disease", "trochlear nerve disease or disorder", "trochlear nerve disorder"], "xref": ["DOID:13864", "MEDGEN:888203", "MESH:D020432", "MedDRA:10074765", "NCIT:C78395", "UMLS:C4048184"]}
{"category": ["biolink:Disease"], "description": "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.", "id": "MONDO:0007004", "name": "Type iii hypersensitivity disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of type III hypersensitivity", "type 3 hypersensitivity reaction", "type III hypersensitivity", "type III hypersensitivity reaction"], "xref": ["DOID:1557", "EFO:1001222", "MEDGEN:7021", "MESH:D007105", "MedDRA:10045265", "NCIT:C114346", "UMLS:C0020951"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the rectum and the distal portion of the colon.", "id": "MONDO:0007005", "name": "Ulcerative proctosigmoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001223", "ICD9:556.3", "MEDGEN:540639", "SCTID:52506002", "UMLS:C0267390", "icd11.foundation:545503130"]}
{"category": ["biolink:Disease"], "description": "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)", "id": "MONDO:0007006", "name": "Ulnar neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mononeuropathy of ulnar nerve", "ulnar nerve mononeuropathy", "ulnar neuropathy (disorder) [ambiguous]"], "xref": ["DOID:4613", "EFO:1001224", "MEDGEN:57596", "MESH:D020424", "SCTID:359837005", "UMLS:C0154743"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus ureaplasma.", "id": "MONDO:0007007", "name": "Ureaplasma urethritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ureaplasma caused disease or disorder", "Ureaplasma disease or disorder", "Ureaplasma infectious disease"], "xref": ["EFO:1001225", "MEDGEN:1843394", "MESH:D016869", "SCTID:51105006", "UMLS:C0854510"]}
{"category": ["biolink:Disease"], "description": "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.", "id": "MONDO:0007008", "name": "Uremia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["uremia of renal origin"], "xref": ["DOID:4676", "EFO:1001226", "MEDGEN:12008", "MESH:D014511", "MedDRA:10046369", "SCTID:44730006", "UMLS:C0041948"]}
{"category": ["biolink:Disease"], "description": "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.", "id": "MONDO:0007009", "name": "Ureterolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calculus of ureter", "ureteric stone"], "xref": ["DOID:14146", "EFO:1001228", "ICD10CM:N20.1", "ICD9:592.1", "MEDGEN:21775", "MESH:D053039", "NCIT:C114696", "SCTID:31054009", "UMLS:C0041952"]}
{"category": ["biolink:Disease"], "description": "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.", "id": "MONDO:0007011", "name": "Uveoparotid fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["uveoparotid fever"], "xref": ["DOID:13404", "EFO:1001232", "GARD:0024517", "MEDGEN:22600", "MESH:D014608", "SCTID:4416007", "UMLS:C0042171", "icd11.foundation:2079034902"]}
{"category": ["biolink:Disease"], "description": "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.", "id": "MONDO:0007012", "name": "Variant creutzfeldt-jakob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["vCJD"], "xref": ["DOID:5435", "EFO:1001233", "GARD:0009550", "ICD10CM:A81.01", "ICD9:046.11", "MEDGEN:138163", "MedDRA:10064199", "NANDO:1200194", "NCIT:C128438", "Orphanet:576370", "SCTID:304603007", "UMLS:C0376329", "icd11.foundation:378572696"]}
{"category": ["biolink:Disease"], "description": "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.", "id": "MONDO:0007013", "name": "Vasculogenic impotence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:4762", "MEDGEN:69309", "MESH:D018783", "UMLS:C0243000"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus vibrio.", "id": "MONDO:0007014", "name": "Vibrio infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Vibrio caused disease or disorder", "Vibrio disease or disorder", "Vibrio infectious disease", "vibrio infectious disease"], "xref": ["EFO:1001235", "MEDGEN:53010", "MESH:D014735", "UMLS:C0042636"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.", "id": "MONDO:0007015", "name": "Viral meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:10310", "EFO:1001236", "GARD:0024518", "ICD10CM:A87", "ICD10WHO:A87", "ICD9:047.8", "ICD9:047.9", "ICD9:321.2", "MEDGEN:44355", "MESH:D008587", "MedDRA:10047469", "NCIT:C118298", "SCTID:58170007", "UMLS:C0025297"]}
{"category": ["biolink:Disease"], "description": "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.", "id": "MONDO:0007016", "name": "Vitamin a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vitamin A deficiency", "vitamin A deficiency (disease)"], "xref": ["EFO:1001237", "HP:0004905", "ICD10CM:E50", "ICD10WHO:E50", "ICD9:264", "ICD9:264.8", "ICD9:264.9", "MEDGEN:22668", "MESH:D014802", "MedDRA:10047586", "NCIT:C85220", "SCTID:72000004", "UMLS:C0042842", "icd11.foundation:435342452"]}
{"category": ["biolink:Disease"], "description": "Detachment of the vitreous humor from the retina.", "id": "MONDO:0007017", "name": "Vitreous detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["detachment Of vitreous", "vitreous, detachment Of"], "xref": ["DOID:9726", "EFO:1001238", "GARD:0024519", "MEDGEN:140839", "MESH:D020255", "MedDRA:10047650", "NCIT:C50807", "SCTID:53772007", "UMLS:C0423361"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the vulva. It is characterized by pruritus and painful urination.", "id": "MONDO:0007018", "name": "Vulvitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of mammalian vulva", "mammalian vulva inflammation"], "xref": ["DOID:3901", "EFO:1001239", "MEDGEN:22690", "MESH:D014847", "MedDRA:10047780", "SCTID:63144007", "UMLS:C0042996", "icd11.foundation:727252860"]}
{"category": ["biolink:Disease"], "description": "An inflammatory pathologic process that affects the vulva and the vagina.", "id": "MONDO:0007019", "name": "Vulvovaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:2273", "EFO:1001240", "MEDGEN:12129", "MESH:D014848", "MedDRA:10047794", "NCIT:C35131", "SCTID:53277000", "UMLS:C0042998"]}
{"category": ["biolink:Disease"], "description": "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)", "id": "MONDO:0007020", "name": "Wernicke encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Wernicke's encephalopathy", "dementia due to thiamine deficiency"], "xref": ["DOID:2384", "ICD10CM:E51.2", "ICD9:265.1", "MEDGEN:53073", "MESH:D014899", "Orphanet:97354", "SCTID:21007002", "UMLS:C0043121", "icd11.foundation:1360335041"]}
{"category": ["biolink:Disease"], "description": "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.", "id": "MONDO:0007022", "name": "Xanthogranulomatous pyelonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["xanthogranulomatous pyelonephritis"], "xref": ["DOID:11401", "EFO:1001244", "ICD9:582.89", "MEDGEN:19591", "MESH:D011705", "MedDRA:10074389", "NCIT:C123038", "SCTID:38898003", "UMLS:C0034188"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus yersinia.", "id": "MONDO:0007023", "name": "Yersinia infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Yersinia bacteria infection", "yersiniosis"], "xref": ["EFO:1001245", "MESH:D015009", "NCIT:C128337", "SCTID:83436008"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the species yersinia pseudotuberculosis.", "id": "MONDO:0007024", "name": "Yersinia pseudotuberculosis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["infections, Yersinia pseudotuberculosis", "pseudotuberculosis"], "xref": ["EFO:1001246", "GARD:0027352", "MEDGEN:12190", "MESH:D015012", "Orphanet:659707", "SCTID:36753006", "UMLS:C0043410"]}
{"category": ["biolink:Disease"], "description": "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.", "id": "MONDO:0007025", "name": "Chancre", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001247", "GARD:0027771", "MEDGEN:671172", "MESH:D002601", "UMLS:C0600049"]}
{"category": ["biolink:Disease"], "description": "Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).", "id": "MONDO:0007027", "name": "Metabolic dysfunction-associated steatohepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MASH", "NASH", "NASH - nonalcoholic steatohepatitis", "non-alcoholic steatohepatitis", "nonalcoholic steatohepatitis"], "xref": ["DOID:0080547", "EFO:1001249", "ICD10CM:K75.81", "MEDGEN:469032", "MedDRA:10053219", "NCIT:C84445", "UMLS:C3241937", "icd11.foundation:1884917970"]}
{"category": ["biolink:Disease"], "description": "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.", "id": "MONDO:0007028", "name": "Rotator cuff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001250", "ICD10CM:M75.1", "ICD10WHO:M75.1", "ICD9:726.10", "MEDGEN:538186", "SCTID:4106009", "UMLS:C0263912", "Wikipedia:Rotator_cuff_tear", "icd11.foundation:1471943310"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).", "id": "MONDO:0007029", "name": "Branchio-oto-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Branchio-Oto-renal syndrome", "Melnick-Fraser syndrome", "branchio-oto-renal syndrome", "branchiootorenal syndrome"], "xref": ["DOID:14702", "GARD:0010147", "ICD9:759.89", "MEDGEN:82693", "MESH:D019280", "MedDRA:10071135", "NANDO:1200675", "NCIT:C98983", "OMIMPS:113650", "Orphanet:107", "SCTID:290006", "UMLS:C0265234", "Wikipedia:Branchio-oto-renal_syndrome", "icd11.foundation:504227287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007030", "name": "Autosomal dominant aarskog syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111825", "GARD:0015029", "MEDGEN:460570", "NORD:702", "OMIM:100050", "UMLS:C3149220"]}
{"category": ["biolink:Disease"], "description": "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007031", "name": "Familial abdominal aortic aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["aortic aneurysm, familial abdominal", "hereditary abdominal aortic aneurysm"], "xref": ["GARD:0009181", "MEDGEN:896628", "OMIMPS:100070", "Orphanet:86", "SCTID:715364001", "UMLS:C4275172", "icd11.foundation:556590106"]}
{"category": ["biolink:Disease"], "description": "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.", "id": "MONDO:0007032", "name": "Prune belly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Obrinsky syndrome", "Obrisnksy syndrome", "abdominal muscle deficiency syndrome", "eagle-Barret syndrome", "prune belly syndrome", "syndrome of agenesis of abdominal muscles", "triad syndrome"], "xref": ["DOID:0060889", "GARD:0007479", "ICD10CM:Q79.4", "ICD9:756.71", "MEDGEN:18718", "MESH:D011535", "MedDRA:10051025", "NANDO:2200185", "NCIT:C85033", "NORD:1623", "OMIM:100100", "Orphanet:2970", "SCTID:5187006", "UMLS:C0033770", "icd11.foundation:1393408621"]}
{"category": ["biolink:Disease"], "description": "Paralysis of the abducens nerve.", "id": "MONDO:0007033", "name": "Abducens nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VIth nerve paralysis", "abducens nerve cranial nerve palsy", "abducent nerve paralysis", "cranial nerve palsy of abducens nerve", "disorder of abducent nerve", "sixth nerve palsy", "sixth nerve paralysis", "sixth or abducens nerve palsy"], "xref": ["DOID:10865", "ICD9:378.54", "MEDGEN:1645218", "NCIT:C27592", "OMIM:100200", "SCTID:398963001", "UMLS:C4551519", "icd11.foundation:2004845959"]}
{"category": ["biolink:Disease"], "description": "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.", "id": "MONDO:0007034", "name": "Adams-oliver syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AOS", "congenital scalp defects with distal limb anomalies", "congenital scalp defects with distal limb reduction anomalies", "limb, scalp and skull defects"], "xref": ["DOID:0060227", "GARD:0005739", "ICD9:759.89", "MEDGEN:78544", "MESH:C538225", "NORD:731", "OMIMPS:100300", "Orphanet:974", "SCTID:34748004", "UMLS:C0265268", "icd11.foundation:745972142"]}
{"category": ["biolink:Disease"], "description": "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.", "id": "MONDO:0007035", "name": "Acanthosis nigricans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acanthosis nigricans", "acanthosis nigricans (disease)", "an - acanthosis nigricans"], "xref": ["DOID:3138", "EFO:1000660", "HP:0000956", "ICD10CM:L83", "ICD10WHO:L83", "MEDGEN:54", "MESH:D000052", "NCIT:C26687", "Orphanet:924", "SCTID:402599005", "UMLS:C0000889", "Wikipedia:Acanthosis_nigricans", "icd11.foundation:71488193"]}
{"category": ["biolink:Disease"], "description": "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.", "id": "MONDO:0007036", "name": "Achard syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Achard syndrome"], "xref": ["DOID:6686", "GARD:0027772", "MEDGEN:272277", "MESH:C536012", "NCIT:C35809", "OMIM:100700", "UMLS:C1332135"]}
{"category": ["biolink:Disease"], "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.", "id": "MONDO:0007037", "name": "Achondroplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACH", "achondroplasia"], "xref": ["DOID:4480", "GARD:0008173", "ICD10CM:Q77.4", "MEDGEN:1289", "MESH:D000130", "MedDRA:10000452", "NANDO:1200877", "NANDO:2201009", "NCIT:C34345", "NORD:711", "OMIM:100800", "Orphanet:15", "SCTID:86268005", "UMLS:C0001080", "icd11.foundation:24224082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007038", "name": "Achoo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Achoo syndrome"], "xref": ["MEDGEN:400287", "MESH:C535300", "OMIM:100820", "UMLS:C1863416"]}
{"category": ["biolink:Disease"], "description": "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.", "id": "MONDO:0007039", "name": "Nf2-related schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["NF2", "NF2-related schwannomatosis", "SWNV", "bilateral acoustic neurofibromatosis", "central neurofibromatosis", "full NF2", "full neurofibromatosis type 2", "neurofibromatosis 2", "neurofibromatosis type 2", "nonmosaic NF2-related schwannomatosis", "nonmosaic neurofibromatosis type 2"], "xref": ["DOID:0111252", "GARD:0007193", "ICD10CM:Q85.02", "ICD9:237.72", "MEDGEN:18014", "MedDRA:10000523", "MedDRA:10029271", "NANDO:1200227", "NCIT:C3274", "OMIM:101000", "Orphanet:637", "SCTID:92503002", "UMLS:C0027832", "icd11.foundation:14808714"]}
{"category": ["biolink:Disease"], "description": "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.", "id": "MONDO:0007040", "name": "Sakati-nyhan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACPS with leg hypoplasia", "Sakati-Nyhan syndrome", "acrocephalopolysyndactyly type 3"], "xref": ["DOID:0060359", "GARD:0000115", "MEDGEN:220889", "MESH:C537227", "OMIM:101120", "Orphanet:3128", "SCTID:403768004", "UMLS:C1275079"]}
{"category": ["biolink:Disease"], "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.", "id": "MONDO:0007041", "name": "Apert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACS1", "Apert syndrome", "acrocephalosyndactyly type 1", "acrocephalosyndactyly type I", "type I Acrocephalosyndactyly"], "xref": ["GARD:0005833", "MEDGEN:7858", "MESH:D000168", "MedDRA:10002943", "NANDO:1200667", "NANDO:2200844", "NCIT:C99099", "NORD:793", "OMIM:101200", "Orphanet:87", "SCTID:205258009", "UMLS:C0001193", "icd11.foundation:1962779847"]}
{"category": ["biolink:Disease"], "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.", "id": "MONDO:0007042", "name": "Saethre-chotzen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACS3", "SCS", "Saethre Chotzen Syndrome", "Saethre-Chotzen syndrome", "Saethre-Chotzen syndrome with or without eyelid anomalies", "acrocephalosyndactyly type 3", "type III Acrocephalosyndactyly"], "xref": ["DOID:14768", "GARD:0007598", "MEDGEN:64221", "NANDO:2200848", "NCIT:C75034", "NORD:1686", "OMIM:101400", "Orphanet:794", "SCTID:83015004", "UMLS:C0175699", "icd11.foundation:2109857109"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.", "id": "MONDO:0007043", "name": "Pfeiffer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACS5", "Pfeiffer syndrome", "acrocephalosyndactyly type 5", "acrocephalosyndactyly type V", "type V Acrocephalosyndactyly"], "xref": ["DOID:14705", "GARD:0007380", "MEDGEN:67390", "NANDO:1200668", "NANDO:2200976", "NCIT:C99100", "NORD:1572", "OMIM:101600", "Orphanet:710", "SCTID:70410008", "UMLS:C0220658", "icd11.foundation:1075159878"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.", "id": "MONDO:0007044", "name": "Acrodysostosis 1 with or without hormone resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADOHR", "Acrodysostosis 1", "Acrodysostosis 1 with or without hormone resistance", "Acrodysostosis 1, with or without hormone resistance"], "xref": ["GARD:0015030", "MEDGEN:477858", "NCIT:C136464", "OMIM:101800", "UMLS:C3276228"]}
{"category": ["biolink:Disease"], "description": "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.", "id": "MONDO:0007045", "name": "Acrofacial dysostosis, catania type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Opitz-Caltabiano syndrome", "acrofacial dysostosis, Catania type"], "xref": ["DOID:0060384", "GARD:0000494", "MEDGEN:419487", "MESH:C538182", "OMIM:101805", "Orphanet:1786", "SCTID:720419000", "UMLS:C2931762", "icd11.foundation:750680130"]}
{"category": ["biolink:Disease"], "description": "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.", "id": "MONDO:0007046", "name": "Hereditary papulotranslucent acrokeratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0060360", "EFO:1000708", "MEDGEN:350144", "MESH:C566323", "OMIM:101840", "UMLS:C1863343"]}
{"category": ["biolink:Disease"], "description": "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later", "id": "MONDO:0007047", "name": "Punctate palmoplantar keratoderma type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AKE", "PPKP3", "acrokeratoelastoidosis of Costa", "ake", "keratoderma, palmoplantar, punctate type 3", "punctate palmoplantar hyperkeratosis type 3", "punctate palmoplantar keratoderma type 3"], "xref": ["DOID:0060362", "EFO:1000758", "GARD:0000125", "MEDGEN:107467", "MESH:C535653", "OMIM:101850", "Orphanet:38", "UMLS:C0545044"]}
{"category": ["biolink:Disease"], "description": "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.", "id": "MONDO:0007048", "name": "Acrokeratosis verruciformis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AKV of Hopf", "Hopf disease", "acrokeratosis verruciformis", "acrokeratosis verruciformis of Hopf"], "xref": ["DOID:0050606", "EFO:1000666", "GARD:0016707", "ICD9:757.39", "MEDGEN:75589", "MedDRA:10069445", "NCIT:C27519", "OMIM:101900", "Orphanet:79151", "SCTID:400085009", "UMLS:C0265971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007049", "name": "Acroleukopathy, symmetric", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acroleukopathy, symmetric"], "xref": ["MEDGEN:350143", "MESH:C566322", "OMIM:102000", "UMLS:C1863342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007050", "name": "Acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "acromegaly-cutis verticis gyrata-corneal leukoma syndrome"], "xref": ["MEDGEN:231158", "MESH:C535654", "OMIM:102100", "Orphanet:964", "UMLS:C1321495"]}
{"category": ["biolink:Disease"], "description": "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.", "id": "MONDO:0007051", "name": "Acromegaloid facial appearance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["acromegaloid facial appearance syndrome"], "xref": ["GARD:0000501", "MEDGEN:167116", "MESH:C535655", "OMIM:102150", "Orphanet:965", "SCTID:720456009", "UMLS:C0796280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007052", "name": "Growth hormone secreting pituitary adenoma 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation", "pituitary adenoma predisposition, autosomal dominant, somatic mutation", "pituitary adenoma, growth hormone-secreting, type 1"], "xref": ["DOID:0112009", "GARD:0024520", "MEDGEN:1618709", "OMIM:102200", "UMLS:C4538355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007054", "name": "Acromial dimples", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acromial dimples"], "xref": ["MEDGEN:869278", "OMIM:102350", "UMLS:C4023704"]}
{"category": ["biolink:Disease"], "description": "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.", "id": "MONDO:0007055", "name": "Acromicric dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Acromicric dysplasia"], "xref": ["DOID:0111243", "GARD:0000007", "ICD9:756.59", "MEDGEN:78549", "MESH:C535662", "NORD:725", "OMIM:102370", "Orphanet:969", "SCTID:254090007", "UMLS:C0265287", "icd11.foundation:1006372687"]}
{"category": ["biolink:Disease"], "description": "A condition that is characterized by degeneration of the distal phalanges.", "id": "MONDO:0007056", "name": "Acroosteolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["acroosteolysis"], "xref": ["GARD:0015031", "MEDGEN:183017", "MESH:D030981", "NCIT:C35545", "OMIM:102400", "SCTID:27201004", "UMLS:C0917990"]}
{"category": ["biolink:Disease"], "description": "A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.", "id": "MONDO:0007057", "name": "Acroosteolysis dominant type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arthrodentoosteodysplasia", "Cheney syndrome", "Hajdu Cheney Syndrome", "Hajdu-Cheney syndrome", "Hajdu-Cheney syndrome-NOTCH2", "acrodentoosteodysplasia", "acroosteolysis with osteoporosis and changes in skull and mandible", "serpentine fibula polycystic kidney syndrome", "serpentine fibula-polycystic kidney syndrome", "serpentine fibula-polycystic kidneys syndrome"], "xref": ["DOID:2736", "GARD:0000508", "ICD9:756.59", "MEDGEN:182961", "MESH:C531695", "MESH:C535663", "MESH:C537586", "NCIT:C84745", "NORD:1214", "OMIM:102500", "Orphanet:955", "SCTID:63122002", "UMLS:C0917715"]}
{"category": ["biolink:Disease"], "description": "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).", "id": "MONDO:0007058", "name": "Acropectorovertebral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Acropectorovertebral dysplasia", "F syndrome"], "xref": ["GARD:0000512", "MEDGEN:400262", "MESH:C566319", "OMIM:102510", "Orphanet:957", "SCTID:720457000", "UMLS:C1863307", "icd11.foundation:1013313909"]}
{"category": ["biolink:Disease"], "description": "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.", "id": "MONDO:0007059", "name": "Acrorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acrorenal syndrome"], "xref": ["DOID:0060347", "GARD:0000514", "MEDGEN:501193", "MESH:C563159", "OMIM:102520", "Orphanet:971", "SCTID:720458005", "UMLS:C3495490", "icd11.foundation:1948375645"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.", "id": "MONDO:0007060", "name": "Spermatogenic failure 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPATA16 azoospermia", "azoospermia caused by mutation in SPATA16", "spermatogenic failure 6", "spermatogenic failure type 6"], "xref": ["DOID:0070167", "GARD:0015032", "MEDGEN:900925", "OMIM:102530", "SCTID:236818008", "UMLS:C4225503"]}
{"category": ["biolink:Disease"], "description": "A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.", "id": "MONDO:0007062", "name": "Adactylia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Adactyly of hand, unilateral", "adactylia unilateral", "adactylia, unilateral", "congenital absence/hypoplasia of fingers excluding thumb, unilateral", "digits 2-5 hypodactyly, unilateral", "digits 2-5 oligodactyly, unilateral"], "xref": ["GARD:0000377", "MEDGEN:113098", "MESH:C562417", "OMIM:102650", "Orphanet:973", "UMLS:C0220660"]}
{"category": ["biolink:Disease"], "description": "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.", "id": "MONDO:0007064", "name": "Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADA deficiency", "ADA-SCID", "SCID due to ADA deficiency", "SCID due to ADA deficiency, early-onset", "SCID due to adenosine deaminase deficiency", "adenosine deaminase deficiency", "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism", "adenosine deaminase deficient severe combined immunodeficiency", "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"], "xref": ["CSP:1560-6660", "DOID:5810", "GARD:0005748", "ICD9:277.2", "MEDGEN:95935", "MESH:C531816", "MedDRA:10066367", "NANDO:1200323", "NANDO:2200696", "NCIT:C3962", "OMIM:102700", "Orphanet:277", "SCTID:44940001", "UMLS:C0392607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007066", "name": "Adenosine triphosphatase deficiency, anemia due to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenosine triphosphatase deficiency, anemia due to"], "xref": ["GARD:0000548", "MEDGEN:350115", "MESH:C566311", "OMIM:102800", "Orphanet:1044", "SCTID:725057008", "UMLS:C1863225"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant phenotype characterized by increase of red blood cell ATP.", "id": "MONDO:0007067", "name": "Pyruvate kinase hyperactivity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pyruvate kinase hyperactivity"], "xref": ["EFO:0005840", "GARD:0024521", "MEDGEN:350114", "MESH:C566310", "OMIM:102900", "UMLS:C1863224"]}
{"category": ["biolink:Disease"], "description": "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.", "id": "MONDO:0007068", "name": "Adenylosuccinate lyase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADSL deficiency", "adenylosuccinase deficiency", "adenylosuccinate lyase deficiency", "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder", "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity", "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity"], "xref": ["DOID:0050762", "GARD:0000550", "ICD9:277.2", "MEDGEN:78641", "MESH:C538235", "OMIM:103050", "Orphanet:46", "SCTID:15285008", "UMLS:C0268126", "icd11.foundation:1725611919"]}
{"category": ["biolink:Disease"], "description": "Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.", "id": "MONDO:0007070", "name": "Adiposis dolorosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Adiposalgia", "Dercum disease", "Dercum's Disease", "Dercum's disease", "Neurolipomatosis", "adipose tissue rheumatism", "adiposis dolorosa", "lipomatosis dolorosa"], "xref": ["DOID:3928", "EFO:1000667", "GARD:0005750", "ICD9:272.8", "MEDGEN:1757", "MESH:D000274", "MedDRA:10001294", "NCIT:C84540", "NORD:1046", "OMIM:103200", "Orphanet:36397", "SCTID:71404003", "UMLS:C0001529", "Wikipedia:Adiposis_dolorosa"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007071", "name": "Adrenocortical hypofunction, chronic primary congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adrenocortical hypofunction, chronic primary congenital"], "xref": ["GARD:0015033", "ICD9:255.41", "MEDGEN:78784", "MESH:C562711", "OMIM:103230", "SCTID:12427005", "UMLS:C0271740"]}
{"category": ["biolink:Disease"], "description": "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.", "id": "MONDO:0007072", "name": "Adult syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADULT syndrome", "acro-dermato-ungual-lacrimal-tooth syndrome", "acrodermatounguallacrimaltooth syndrome", "pigment anomaly-ectrodactyly-hypodontia syndrome"], "xref": ["DOID:0050601", "GARD:0000384", "MEDGEN:400232", "MESH:C538052", "OMIM:103285", "Orphanet:978", "SCTID:720464003", "UMLS:C1863204", "icd11.foundation:1445741645"]}
{"category": ["biolink:Disease"], "description": "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.", "id": "MONDO:0007073", "name": "Hypoglossia-hypodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hanhart Syndrome", "Hanhart syndrome", "Jussieu syndrome", "aglossia-adactylia syndrome"], "xref": ["GARD:0000068", "ICD9:759.89", "MEDGEN:354928", "NORD:1215", "OMIM:103300", "Orphanet:989", "SCTID:35031005", "UMLS:C1863203"]}
{"category": ["biolink:Disease"], "description": "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.", "id": "MONDO:0007074", "name": "Ainhum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Dactylolysis", "Dactylolysis spontanea", "ainhum", "ainhum (disease)"], "xref": ["DOID:11329", "GARD:0027773", "HP:0031009", "ICD10CM:L94.6", "ICD9:136.0", "MEDGEN:1381", "MESH:D000387", "NCIT:C84544", "OMIM:103400", "SCTID:38528001", "UMLS:C0001860", "icd11.foundation:1138885521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007075", "name": "Alacrima, congenital, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0018165", "MEDGEN:934803", "MESH:C566307", "OMIM:103420", "UMLS:C4310836"]}
{"category": ["biolink:Disease"], "description": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.", "id": "MONDO:0007077", "name": "Tietz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tietz albinism-deafness syndrome", "Tietz syndrome", "albinism-deafness of Tietz", "hypopigmentation-deafness syndrome", "hypopigmentation/deafness of Tietz"], "xref": ["DOID:0090002", "GARD:0007772", "ICD9:270.2", "MEDGEN:98213", "MESH:C536919", "OMIM:103500", "Orphanet:42665", "SCTID:403805009", "UMLS:C0391816"]}
{"category": ["biolink:Disease"], "description": "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).", "id": "MONDO:0007078", "name": "Pseudohypoparathyroidism type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHO-PHP syndrome Ia", "Albright hereditary osteodystrophy", "Albright hereditary osteodystrophy with multiple hormone resistance", "Albright hereditary osteodystrophy-PHP syndrome Ia", "PHP1A", "Pseudohypoparathyroidism Ia", "Pseudohypoparathyroidism type 1A"], "xref": ["DOID:0080053", "GARD:0007486", "ICD9:275.49", "MEDGEN:488447", "MESH:C537045", "NANDO:1201075", "NCIT:C129721", "OMIM:103580", "Orphanet:79443", "SCTID:58833000", "UMLS:C3494506", "icd11.foundation:1513156369"]}
{"category": ["biolink:Disease"], "description": "Physical and psychological dependence on alcohol.", "id": "MONDO:0007079", "name": "Alcohol dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["alcohol dependence", "alcoholism"], "xref": ["DOID:0050741", "ICD10CM:F10.2", "ICD9:303.90", "ICD9:305.0", "MEDGEN:1801", "NCIT:C93040", "OMIM:103780", "SCTID:66590003", "UMLS:C0001973", "icd11.foundation:1580466198"]}
{"category": ["biolink:Disease"], "description": "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.", "id": "MONDO:0007080", "name": "Glucocorticoid-remediable aldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FH-I", "FH1", "GRA", "aldosteronism, glucocorticoid-remediable", "dexamethasone-sensitive hypertension", "familial hyperaldosteronism type 1", "glucocorticoid-remediable aldosteronism", "glucocorticoid-sensitive hypertension"], "xref": ["DOID:14080", "GARD:0002790", "ICD10CM:E26.02", "ICD9:255.11", "MEDGEN:824577", "MESH:C563177", "OMIM:103900", "Orphanet:403", "UMLS:C3838731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007082", "name": "Alopecia areata 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["alopecia areata 1"], "xref": ["GARD:0015035", "MEDGEN:400208", "MESH:C566303", "OMIM:104000", "UMLS:C1863094"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.", "id": "MONDO:0007083", "name": "Autosomal dominant palmoplantar keratoderma and congenital alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPK-CA, Stevanovic type", "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia", "palmoplantar keratoderma and congenital alopecia type 1", "palmoplantar keratoderma and congenital alopecia, Stevanovic type", "palmoplantar keratoderma with congenital alopecia"], "xref": ["DOID:0111244", "GARD:0000604", "MEDGEN:930338", "OMIM:104100", "Orphanet:1010", "SCTID:719518004", "UMLS:C4304669", "icd11.foundation:1745113656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007084", "name": "Familial focal alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["alopecia, familial focal"], "xref": ["GARD:0024522", "MEDGEN:350835", "MESH:C566301", "OMIM:104110", "UMLS:C1863092"]}
{"category": ["biolink:Disease"], "description": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.", "id": "MONDO:0007085", "name": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Shokeir syndrome"], "xref": ["GARD:0000607", "MEDGEN:350833", "MESH:C537057", "OMIM:104130", "Orphanet:1008", "SCTID:720980004", "UMLS:C1863090"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.", "id": "MONDO:0007086", "name": "Autosomal dominant alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alport syndrome 3, autosomal dominant", "Alport syndrome, autosomal dominant"], "xref": ["DOID:0110032", "GARD:0000624", "MEDGEN:1848787", "OMIM:104200", "Orphanet:88918", "SCTID:717766000", "UMLS:C5882663"]}
{"category": ["biolink:Disease"], "description": "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.", "id": "MONDO:0007087", "name": "Alternating hemiplegia of childhood 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATP1A2 alternating hemiplegia of childhood", "alternating hemiplegia of childhood 1", "alternating hemiplegia of childhood caused by mutation in ATP1A2", "alternating hemiplegia of childhood type 1"], "xref": ["GARD:0015036", "MEDGEN:762361", "OMIM:104290", "UMLS:C3549447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007088", "name": "Alzheimer disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["AD1", "Alzheimer disease 1, familial", "Alzheimer disease, familial, 1"], "xref": ["DECIPHER:48", "DOID:0080348", "GARD:0009465", "MEDGEN:354892", "MESH:C536594", "OMIM:104300", "UMLS:C1863052"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.", "id": "MONDO:0007089", "name": "Alzheimer disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD2", "Alzheimer disease 2", "Alzheimer disease associated with APOE E4", "Alzheimer disease associated with APOE4", "Alzheimer disease type 2", "Alzheimer's disease 2", "Alzheimer's disease type 2", "late onset Alzheimer disease", "late onset familial Alzheimer disease", "late-onset familial alzheimer disease"], "xref": ["DOID:0110035", "MEDGEN:400197", "MESH:C536595", "OMIM:104310", "UMLS:C1863051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007090", "name": "Amastia, bilateral, with ureteral triplication and dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amastia, bilateral, with ureteral triplication and dysmorphism"], "xref": ["MEDGEN:354882", "MESH:C566295", "OMIM:104350", "UMLS:C1863015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007091", "name": "Amelia and terminal transverse hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amelia and terminal transverse hemimelia"], "xref": ["MEDGEN:400186", "MESH:C566294", "OMIM:104400", "UMLS:C1863014"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.", "id": "MONDO:0007092", "name": "Amelogenesis imperfecta type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1B", "ENAM amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in ENAM", "amelogenesis imperfecta caused by mutation in enam", "enam amelogenesis imperfecta", "hereditary localised enamel hypoplasia"], "xref": ["DOID:0110052", "GARD:0015037", "ICD9:520.5", "MEDGEN:97993", "MESH:C562879", "OMIM:104500", "SCTID:234961008", "UMLS:C0399368"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.", "id": "MONDO:0007093", "name": "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AI4", "AIHHT", "DLX3 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in DLX3", "amelogenesis imperfecta type 4"], "xref": ["DOID:0110053", "GARD:0016932", "MEDGEN:350816", "MESH:C566293", "OMIM:104510", "Orphanet:100034", "UMLS:C1863012"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.", "id": "MONDO:0007094", "name": "Amelogenesis imperfecta type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1A", "LAMB3 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in LAMB3"], "xref": ["DOID:0110054", "GARD:0015038", "MEDGEN:859840", "MESH:C538240", "OMIM:104530", "UMLS:C4011403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007095", "name": "Ameloonychohypohidrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ameloonychohypohidrotic syndrome"], "xref": ["GARD:0000647", "MEDGEN:400184", "MESH:C538245", "OMIM:104570", "Orphanet:1028", "SCTID:715404000", "UMLS:C1863006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007096", "name": "Amenorrhea-galactorrhea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amenorrhea-galactorrhea syndrome"], "xref": ["ICD9:253.1", "MEDGEN:78775", "MESH:C537072", "OMIM:104600", "SCTID:64678009", "UMLS:C0271556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007097", "name": "Finnish type amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["amyloidosis, MERETOJA type", "familial amyloid polyneuropathy type IV", "familial amyloidosis, Finnish type", "gelsolin amyloidosis", "hereditary amyloidosis, Finnish type", "meretoja syndrome"], "xref": ["DOID:0050637", "GARD:0002339", "ICD9:277.39", "MEDGEN:301243", "MESH:C537459", "NANDO:1201063", "OMIM:105120", "Orphanet:85448", "SCTID:419398009", "UMLS:C1622345"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.", "id": "MONDO:0007098", "name": "Acys amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CST3-related amyloidosis", "HCHWA, Icelandic type", "amyloidosis, Cerebroarterial, Icelandic type", "cerebral hemorrhage, hereditary, with amyloidosis", "cystatin amyloidosis", "hereditary cerebral haemorrhage with amyloidosis", "hereditary cerebral haemorrhage with amyloidosis, Icelandic type", "hereditary cerebral hemorrhage with amyloidosis", "hereditary cerebral hemorrhage with amyloidosis, Icelandic type", "hereditary cystatin C amyloid angiopathy"], "xref": ["DOID:0070027", "GARD:0016930", "ICD9:277.39", "ICD9:437.8", "MEDGEN:279656", "OMIM:105150", "Orphanet:100008", "SCTID:703220002", "UMLS:C1527338", "icd11.foundation:1349991114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007099", "name": "Familial visceral amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["German type amyloidosis", "Ostertag type amyloidosis", "amyloidosis, 3 or more types", "amyloidosis, Ostertag type", "amyloidosis, familial renal", "amyloidosis, renal", "familial amyloid nephropathy", "familial renal amyloidosis", "hereditary amyloid nephropathy", "hereditary renal amyloidosis"], "xref": ["DOID:0050636", "GARD:0008282", "ICD9:277.39", "MEDGEN:82799", "MESH:C538249", "NANDO:2200138", "OMIM:105200", "Orphanet:85450", "SCTID:66451004", "UMLS:C0268389"]}
{"category": ["biolink:Disease"], "description": "A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.", "id": "MONDO:0007100", "name": "Hereditary transthyretin amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATTRv amyloidosis", "amyloid neuropathies, familial", "familial TTR-related amyloidosis", "familial amyloid neuropathy", "familial amyloid polyneuropathy", "familial transthyretin-related amyloidosis", "hATTR", "hereditary TTR amyloid polyneuropathy", "hereditary TTR amyloidosis", "hereditary transthyretin amyloid polyneuropathy", "paramyloidosis"], "xref": ["DOID:0050638", "DOID:0050761", "EFO:0004129", "GARD:0021017", "ICD9:277.39", "MEDGEN:104815", "MESH:C567782", "NANDO:1200214", "NANDO:1201060", "NCIT:C84554", "OMIMPS:105210", "Orphanet:271861", "SCTID:42295001", "UMLS:C0206245", "icd11.foundation:807065795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007101", "name": "Familial primary localized cutaneous amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPLCA", "hereditary primary cutaneous amyloidosis"], "xref": ["GARD:0017533", "MEDGEN:725603", "MESH:C562643", "OMIMPS:105250", "Orphanet:353220", "UMLS:C1304242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007102", "name": "Amyotrophic dystonic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amyotrophic dystonic paraplegia"], "xref": ["MEDGEN:354871", "MESH:C566292", "OMIM:105300", "UMLS:C1862956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007103", "name": "Amyotrophic lateral sclerosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ALS1", "amyotrophic lateral sclerosis 1", "amyotrophic lateral sclerosis type 1"], "xref": ["DOID:0060193", "GARD:0024523", "MEDGEN:400169", "MESH:C531617", "OMIM:105400", "UMLS:C1862939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007104", "name": "Amyotrophic lateral sclerosis-parkinsonism-dementia complex", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Guam disease", "Lytico-Bodig disease", "Lytigo-Bodig disease", "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1"], "xref": ["DOID:0111246", "GARD:0009239", "MEDGEN:107775", "OMIM:105500", "Orphanet:90020", "UMLS:C0543859"]}
{"category": ["biolink:Disease"], "description": "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.", "id": "MONDO:0007105", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALSFTD", "C9ORF72 frontotemporal dementia with motor neuron disease", "C9orf72 frontotemporal dementia with motor neuron disease", "FTDMND", "amyotrophic lateral sclerosis and/or frontotemporal dementia", "frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1", "frontotemporal dementia and/or motor neuron disease", "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72", "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72"], "xref": ["DOID:0060213", "GARD:0018396", "MEDGEN:1830423", "NCIT:C168756", "OMIM:105550", "UMLS:C5779877"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007106", "name": "Anal sphincter dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anal sphincter dysplasia"], "xref": ["MEDGEN:350794", "MESH:C538254", "OMIM:105563", "UMLS:C1862936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007107", "name": "Anal sphincter myopathy, internal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anal sphincter myopathy, internal"], "xref": ["MEDGEN:349633", "MESH:C566287", "OMIM:105565", "UMLS:C1862935"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from epithelial cells of the anal canal", "id": "MONDO:0007108", "name": "Anal canal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["anal canal and perianal gland cancer", "anal canal and perianal gland carcinoma", "anal canal carcinoma", "carcinoma of anal canal", "carcinoma of the anal canal"], "xref": ["DOID:6126", "GARD:0021772", "MEDGEN:107559", "NCIT:C7489", "OMIM:105580", "Orphanet:424013", "SCTID:285310000", "UMLS:C0563211"]}
{"category": ["biolink:Disease"], "description": "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.", "id": "MONDO:0007109", "name": "Congenital dyserythropoietic anemia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDA III", "CDA type 3", "CDA type III", "congenital dyserythropoietic anemia type 3", "dyserythropoietic anemia, congenital, type III"], "xref": ["DOID:0111399", "GARD:0002002", "ICD9:285.8", "MEDGEN:1801596", "NANDO:1200888", "OMIM:105600", "Orphanet:98870", "SCTID:26409005", "UMLS:C5676874"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.", "id": "MONDO:0007110", "name": "Diamond-blackfan anemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 1", "Diamond-Blackfan Anemia type 1", "Diamond-Blackfan anaemia caused by mutation in RPS19", "Diamond-Blackfan anemia 1", "Diamond-Blackfan anemia caused by mutation in RPS19", "RPS19 Diamond-Blackfan anaemia", "RPS19 Diamond-Blackfan anemia"], "xref": ["DOID:0111895", "GARD:0015039", "MEDGEN:390966", "MESH:C567302", "NCIT:C176911", "OMIM:105650", "UMLS:C2676137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007111", "name": "Aneurysm, intracranial berry type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB1"], "xref": ["DOID:0080964", "GARD:0018320", "MEDGEN:354864", "MESH:C566284", "OMIM:105800", "UMLS:C1862932"]}
{"category": ["biolink:Disease"], "description": "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.", "id": "MONDO:0007112", "name": "Interventricular septum aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016895", "MEDGEN:234648", "MESH:C563239", "OMIM:105805", "Orphanet:99092", "UMLS:C1387721"]}
{"category": ["biolink:Disease"], "description": "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.", "id": "MONDO:0007113", "name": "Angelman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Angelman syndrome", "Angelman’s syndrome"], "xref": ["DECIPHER:4", "DECIPHER:54", "DOID:1932", "GARD:0005810", "ICD10CM:Q93.51", "ICD9:759.89", "MEDGEN:58144", "MESH:C531619", "MESH:D017204", "MedDRA:10049004", "NANDO:1200686", "NANDO:2200960", "NCIT:C75462", "NORD:782", "OMIM:105830", "Orphanet:72", "SCTID:76880004", "UMLS:C0162635", "icd11.foundation:1106558408"]}
{"category": ["biolink:Disease"], "description": "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.", "id": "MONDO:0007114", "name": "Angel-shaped phalango-epiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASPED"], "xref": ["GARD:0000671", "MEDGEN:366028", "MESH:C536361", "MedDRA:10066017", "OMIM:105835", "Orphanet:63442", "SCTID:720984008", "UMLS:C1739384", "icd11.foundation:1095628863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007115", "name": "Angioma serpiginosum, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angioma serpiginosum, autosomal dominant"], "xref": ["GARD:0010189", "MEDGEN:370186", "MESH:C536365", "OMIM:106050", "UMLS:C1970130"]}
{"category": ["biolink:Disease"], "description": "Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.", "id": "MONDO:0007116", "name": "Hereditary neurocutaneous angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary neurocutaneous angioma"], "xref": ["GARD:0000676", "MEDGEN:226898", "OMIM:106070", "Orphanet:1062", "UMLS:C1275084", "icd11.foundation:182579434"]}
{"category": ["biolink:Disease"], "description": "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.", "id": "MONDO:0007118", "name": "Isolated anhidrosis with normal sweat glands", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dann-Epstein-Sohar syndrome", "ITPR2 anhidrosis", "anhidrosis caused by mutation in ITPR2"], "xref": ["DOID:0060603", "GARD:0017843", "MEDGEN:1800259", "OMIM:106190", "Orphanet:468666", "UMLS:C5568836"]}
{"category": ["biolink:Disease"], "description": "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.", "id": "MONDO:0007119", "name": "Isolated aniridia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["nonsyndromic aniridia"], "xref": ["GARD:0005816", "OMIMPS:106210", "Orphanet:250923"]}
{"category": ["biolink:Disease"], "description": "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.", "id": "MONDO:0007120", "name": "Aniridia-absent patella syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000685", "MEDGEN:400149", "MESH:C566281", "OMIM:106220", "Orphanet:1069", "UMLS:C1862868"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007121", "name": "Aniridia, microcornea, and spontaneously reabsorbed cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aniridia, microcornea, and spontaneously Reabsorbed cataract"], "xref": ["MEDGEN:350777", "MESH:C566280", "OMIM:106230", "UMLS:C1862867"]}
{"category": ["biolink:Disease"], "description": "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.", "id": "MONDO:0007122", "name": "Anisocoria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anisocoria", "anisocoria (disease)"], "xref": ["HP:0009916", "ICD10CM:H57.02", "ICD9:379.41", "MEDGEN:1944", "MESH:D015875", "OMIM:106240", "SCTID:13045009", "UMLS:C0003079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007123", "name": "Ankyloblepharon filiforme adnatum-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ankyloblepharon filiforme adnatum"], "xref": ["GARD:0000696", "MEDGEN:400148", "MESH:C536373", "OMIM:106250", "Orphanet:1072", "SCTID:400952003", "UMLS:C1862866"]}
{"category": ["biolink:Disease"], "description": "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.", "id": "MONDO:0007124", "name": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AEC Syndrome", "AEC syndrome", "Hay-Wells syndrome"], "xref": ["DOID:0090119", "GARD:0006571", "MEDGEN:98032", "MESH:C535847", "NORD:738", "OMIM:106260", "Orphanet:1071", "SCTID:55821006", "UMLS:C0406709"]}
{"category": ["biolink:Disease"], "description": "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.", "id": "MONDO:0007125", "name": "Ankyloglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FUSED to floor of mouth", "ankyloglossia"], "xref": ["DOID:0060604", "ICD10CM:Q38.1", "ICD9:750.0", "MEDGEN:1673143", "MESH:C562396", "MESH:D000072676", "NCIT:C124538", "OMIM:106280", "SCTID:67787004", "UMLS:C4759698", "icd11.foundation:1838543063"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.", "id": "MONDO:0007127", "name": "Diffuse idiopathic skeletal hyperostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DISH", "Forestier's disease", "ankylosing vertebral hyperostosis", "diffuse idiopathic skeletal hyperostosis", "dish"], "xref": ["DOID:6652", "EFO:0007236", "GARD:0000842", "ICD10CM:M48.1", "ICD9:721.6", "ICD9:733.99", "MEDGEN:5695", "MESH:D004057", "NCIT:C84671", "NORD:1053", "Orphanet:2206", "SCTID:31487001", "UMLS:C0020498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007128", "name": "Annular erythema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["annular erythema"], "xref": ["MEDGEN:68608", "MESH:C562461", "OMIM:106500", "SCTID:200920000", "UMLS:C0234906", "icd11.foundation:958930318"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.", "id": "MONDO:0007129", "name": "Tooth agenesis, selective, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MSX1 tooth agenesis", "MSX1-related tooth agenesis with or without orofacial cleft", "tooth agenesis caused by mutation in MSX1", "tooth agenesis, selective, 1", "tooth agenesis, selective, 1, with or without orofacial cleft", "tooth agenesis, selective, type 1"], "xref": ["GARD:0018244", "MEDGEN:483482", "OMIM:106600", "UMLS:C3489529"]}
{"category": ["biolink:Disease"], "description": "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.", "id": "MONDO:0007130", "name": "Congenital total pulmonary venous return anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TAPVR", "total anomalous pulmonary venous return"], "xref": ["DOID:4297", "GARD:0016896", "ICD9:747.41", "MEDGEN:1648157", "NANDO:2200271", "NCIT:C98585", "OMIM:106700", "Orphanet:99125", "SCTID:111323005", "UMLS:C4551903", "icd11.foundation:1532925990"]}
{"category": ["biolink:Disease"], "description": "Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.", "id": "MONDO:0007131", "name": "Anonychia with flexural pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anonychia with flexural pigmentation"], "xref": ["GARD:0016682", "MEDGEN:400144", "MESH:C566278", "OMIM:106750", "Orphanet:69125", "UMLS:C1862844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007132", "name": "Anonychia-ectrodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anonychia-ectrodactyly"], "xref": ["MEDGEN:354849", "MESH:C566277", "OMIM:106900", "UMLS:C1862843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007133", "name": "Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Kumar-Levick syndrome", "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly"], "xref": ["GARD:0000711", "MEDGEN:400143", "MESH:C536379", "OMIM:106990", "Orphanet:2355", "UMLS:C1862842"]}
{"category": ["biolink:Disease"], "description": "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.", "id": "MONDO:0007134", "name": "Cooks syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cooks syndrome", "ODP", "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome"], "xref": ["GARD:0004083", "MEDGEN:354848", "MESH:C537766", "OMIM:106995", "Orphanet:1487", "SCTID:720747002", "UMLS:C1862841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007135", "name": "Nonsyndromic congenital nail disorder 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonsyndromic congenital nail disorder type 6"], "xref": ["DOID:0080084", "GARD:0015040", "MEDGEN:477175", "OMIM:107000", "UMLS:C3275544"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007136", "name": "Hereditary anorectal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["genetic anorectal anomalies"], "xref": ["GARD:0024524", "MEDGEN:501217", "MESH:C567938", "OMIM:107100", "UMLS:C3495676"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.", "id": "MONDO:0007137", "name": "Isolated congenital anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009486", "MEDGEN:95992", "MESH:C535983", "OMIM:107200", "Orphanet:88620", "SCTID:230502003", "UMLS:C0393778", "icd11.foundation:1603572540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007138", "name": "Anterior segment dysgenesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anterior segment dysgenesis 1", "anterior segment dysgenesis 1, multiple subtypes"], "xref": ["DOID:0060605", "DOID:0080606", "GARD:0024525", "MEDGEN:1631197", "OMIM:107250", "UMLS:C4551992"]}
{"category": ["biolink:Disease"], "description": "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.", "id": "MONDO:0007142", "name": "Townes-brocks syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["TBS", "Townes syndrome", "Townes-Brocks syndrome", "imperforate anus with hand, foot and ear anomalies", "rear syndrome", "renal-ear-anal-radial syndrome", "sensorineural deafness with imperforate anus and hypoplastic thumbs"], "xref": ["DOID:0050887", "GARD:0007784", "ICD9:759.89", "MEDGEN:75555", "MESH:C536974", "NCIT:C99085", "NORD:1780", "OMIMPS:107480", "Orphanet:857", "SCTID:24750000", "UMLS:C0265246", "icd11.foundation:66554749"]}
{"category": ["biolink:Disease"], "description": "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.", "id": "MONDO:0007143", "name": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000739", "MEDGEN:350734", "MESH:C537785", "OMIM:107500", "Orphanet:1110", "UMLS:C1862682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007144", "name": "Aortic arch interruption, facial palsy, and retinal coloboma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aortic arch interruption, facial palsy, and retinal coloboma"], "xref": ["MEDGEN:350733", "MESH:C566271", "OMIM:107550", "UMLS:C1862681"]}
{"category": ["biolink:Disease"], "description": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.", "id": "MONDO:0007145", "name": "Aplasia cutis congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aplasia cutis congenita", "aplasia cutis congenita (disease)", "aplasia cutis congenita recessive"], "xref": ["DOID:0080661", "GARD:0005835", "HP:0001057", "ICD9:757.39", "MEDGEN:79390", "NCIT:C98822", "NORD:794", "OMIM:107600", "Orphanet:1114", "SCTID:35484002", "UMLS:C0282160", "icd11.foundation:350175828"]}
{"category": ["biolink:Disease"], "description": "Cessation of air flow during sleep due to upper airway obstruction.", "id": "MONDO:0007147", "name": "Obstructive sleep apnea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obstructive sleep apnea", "obstructive sleep apnea syndrome"], "xref": ["DOID:0050848", "EFO:0003918", "HP:0002870", "ICD10CM:G47.33", "ICD9:327.23", "MEDGEN:101045", "MESH:D020181", "NCIT:C27168", "OMIM:107650", "SCTID:78275009", "UMLS:C0520679"]}
{"category": ["biolink:Disease"], "description": "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.", "id": "MONDO:0007150", "name": "Arcus senilis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arcus of cornea", "arcus senilis", "corneal arcus"], "xref": ["DOID:11342", "EFO:1000818", "ICD10CM:H18.41", "MEDGEN:8179", "MESH:D001112", "MedDRA:10003082", "OMIM:107800", "SCTID:231924000", "UMLS:C0003742", "icd11.foundation:2142011301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007151", "name": "Arms, malformation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arms, malformation of"], "xref": ["MEDGEN:350694", "MESH:C566258", "OMIM:107900", "UMLS:C1862534"]}
{"category": ["biolink:Disease"], "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.", "id": "MONDO:0007152", "name": "Arrhythmogenic right ventricular dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARVC1", "ARVD1", "TGFB3 arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular cardiomyopathy 1", "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3", "arrhythmogenic right ventricular dysplasia type 1", "arrhythmogenic right ventricular dysplasia, familial, type 1", "familial arrhythmogenic right ventricular dysplasia 1"], "xref": ["DOID:0110070", "GARD:0024526", "MEDGEN:349530", "OMIM:107970", "UMLS:C1862511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007153", "name": "Arteries, anomalies of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arteries, anomalies of"], "xref": ["MEDGEN:360295", "OMIM:108000", "UMLS:C1876179"]}
{"category": ["biolink:Disease"], "description": "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.", "id": "MONDO:0007154", "name": "Arteriovenous malformations of the brain", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["arteriovenous malformation of the brain, somatic", "arteriovenous malformations of the brain", "cerebral arteriovenous malformation", "intracranial arteriovenous malformation", "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation", "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation"], "xref": ["DOID:0060688", "GARD:0003020", "MEDGEN:214590", "MESH:D002538", "NANDO:2100229", "NANDO:2200851", "NCIT:C2936", "OMIM:108010", "Orphanet:46724", "SCTID:234142008", "UMLS:C0917804", "icd11.foundation:153256729"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007155", "name": "Arteritis, familial granulomatous, with juvenile polyarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arteritis, familial granulomatous, with juvenile polyarthritis"], "xref": ["MEDGEN:349529", "MESH:C566253", "OMIM:108050", "UMLS:C1862510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007156", "name": "Arthritis, sacroiliac", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arthritis, sacroiliac"], "xref": ["MEDGEN:148186", "MESH:C563037", "OMIM:108100", "UMLS:C0748473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007157", "name": "Arthrogryposis, distal, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AMC", "DA1A", "arthrogryposis, distal, type 1A"], "xref": ["DOID:0111597", "GARD:0024527", "MEDGEN:113099", "OMIM:108120", "SCTID:715314008", "UMLS:C0220662"]}
{"category": ["biolink:Disease"], "description": "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.", "id": "MONDO:0007158", "name": "Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "distal arthrogryposis type 5", "distal arthrogryposis type IIB", "distal arthrogryposis with ophthalmoplegia", "oculomelic amyoplasia"], "xref": ["DOID:0111608", "GARD:0004047", "MEDGEN:350678", "OMIM:108145", "Orphanet:1154", "SCTID:715217004", "UMLS:C1862472"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.", "id": "MONDO:0007159", "name": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal arthrogryposis type 6"], "xref": ["DOID:0111609", "GARD:0000784", "MEDGEN:350677", "MESH:C535386", "OMIM:108200", "Orphanet:1144", "SCTID:720515009", "UMLS:C1862471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007160", "name": "Stickler syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Stickler syndrome type 1"], "xref": ["DOID:0080676", "GARD:0005018", "MEDGEN:810955", "MESH:C537492", "NANDO:2201354", "NCIT:C168733", "OMIM:108300", "Orphanet:90653", "UMLS:C2020284", "icd11.foundation:203625278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007161", "name": "Spermatogenic failure 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPGF2", "spermatogenic failure 2"], "xref": ["DOID:0070164", "GARD:0015041", "MEDGEN:400056", "OMIM:108420", "UMLS:C1862459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007162", "name": "Asymmetric short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["asymmetric short stature syndrome"], "xref": ["MEDGEN:354753", "MESH:C566248", "OMIM:108450", "UMLS:C1862458"]}
{"category": ["biolink:Disease"], "description": "A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.", "id": "MONDO:0007163", "name": "Episodic ataxia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACNA1A hereditary episodic ataxia", "episodic ataxia type 2", "hereditary episodic ataxia caused by mutation in CACNA1A"], "xref": ["DOID:0050990", "GARD:0009602", "MEDGEN:314039", "MESH:C535506", "OMIM:108500", "Orphanet:97", "SCTID:420932006", "UMLS:C1720416"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.", "id": "MONDO:0007164", "name": "Spastic ataxia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPAX1", "VAMP1 autosomal dominant spastic ataxia", "autosomal dominant spastic ataxia caused by mutation in VAMP1", "spastic ataxia type 1"], "xref": ["DOID:0050772", "GARD:0017206", "MEDGEN:409988", "MESH:C566993", "OMIM:108600", "Orphanet:251282", "UMLS:C1970107"]}
{"category": ["biolink:Disease"], "description": "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.", "id": "MONDO:0007165", "name": "Spastic ataxia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPAX7", "autosomal dominant spastic ataxia type 7", "spastic ataxia type 7"], "xref": ["DOID:0050945", "GARD:0016560", "MEDGEN:354750", "MESH:C566247", "OMIM:108650", "Orphanet:1182", "SCTID:763669001", "UMLS:C1862441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007166", "name": "Ataxia with fasciculations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ataxia with fasciculations"], "xref": ["GARD:0024528", "MEDGEN:400052", "MESH:C566246", "OMIM:108700", "UMLS:C1862440"]}
{"category": ["biolink:Disease"], "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.", "id": "MONDO:0007167", "name": "Atelosteogenesis type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AO1", "AOI", "atelosteogenesis type 1", "giant cell chondrodysplasia", "spondylo-humero-femoral dysplasia"], "xref": ["GARD:0009287", "MEDGEN:82701", "MESH:C535396", "OMIM:108720", "Orphanet:1190", "SCTID:725141006", "UMLS:C0265283", "icd11.foundation:449799342"]}
{"category": ["biolink:Disease"], "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.", "id": "MONDO:0007168", "name": "Atelosteogenesis type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AO3", "AOIII", "atelosteogenesis type 3"], "xref": ["GARD:0010608", "MEDGEN:777149", "MESH:C579928", "OMIM:108721", "Orphanet:56305", "SCTID:725142004", "UMLS:C3668942", "icd11.foundation:1997882528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007170", "name": "Atresia of external auditory canal and conductive deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["atresia of external auditory canal and conductive deafness"], "xref": ["GARD:0018274", "MEDGEN:502760", "OMIM:108760", "UMLS:C3502361"]}
{"category": ["biolink:Disease"], "description": "Any atrial standstill in which the cause of the disease is a mutation in both the GJA5 and SCN5A genes.", "id": "MONDO:0007171", "name": "Atrial standstill 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["atrial standstill 1", "atrial standstill type 1", "atrial standstill, digenic (GJA5/SCN5A)"], "xref": ["DOID:0080662", "GARD:0018611", "MEDGEN:1646392", "OMIM:108770", "UMLS:C4551959"]}
{"category": ["biolink:Disease"], "description": "An atrial heart septal defect type 1 associated with variation in the region 5p.", "id": "MONDO:0007172", "name": "Atrial septal defect 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASD1", "atrial heart septal defect type 1", "atrial septal defect 1"], "xref": ["DOID:0110106", "GARD:0024529", "MEDGEN:349495", "OMIM:108800", "UMLS:C1862389"]}
{"category": ["biolink:Disease"], "description": "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.", "id": "MONDO:0007173", "name": "Atrial septal defect 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASD with or without atrioventricular conduction defects", "NKX2-5 atrial heart septal defect", "atrial heart septal defect caused by mutation in NKX2-5", "atrial heart septal defect type 7", "atrial septal defect-atrioventricular conduction defects syndrome"], "xref": ["DOID:0110112", "GARD:0016566", "MEDGEN:477726", "OMIM:108900", "Orphanet:1479", "UMLS:C3276096"]}
{"category": ["biolink:Disease"], "description": "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).", "id": "MONDO:0007174", "name": "Lown-ganong-levine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGL syndrome", "Lown-Ganong-Levine syndrome", "atrial tachyarrhythmia with short PR interval"], "xref": ["DOID:13087", "GARD:0016550", "ICD9:426.81", "MEDGEN:354734", "MESH:D008151", "MedDRA:10024984", "OMIM:108950", "Orphanet:844", "SCTID:55475008", "UMLS:C1862387", "icd11.foundation:414532162"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007175", "name": "Pr interval, variation in", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PR interval, variation in", "PR interval, variation type in"], "xref": ["MEDGEN:463601", "OMIM:108980", "UMLS:C3152251"]}
{"category": ["biolink:Disease"], "description": "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.", "id": "MONDO:0007176", "name": "Helicoid peripapillary chorioretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCRA", "Sveinsson chorioretinal atrophy", "atrophia areata"], "xref": ["DOID:0111228", "GARD:0016757", "MEDGEN:354733", "MESH:C566236", "OMIM:108985", "Orphanet:86813", "SCTID:724384008", "UMLS:C1862382", "icd11.foundation:896652469"]}
{"category": ["biolink:Disease"], "description": "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.", "id": "MONDO:0007177", "name": "Auriculoosteodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["auriculoosteodysplasia"], "xref": ["GARD:0008663", "MEDGEN:400038", "MESH:C538271", "OMIM:109000", "Orphanet:114", "UMLS:C1862381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007178", "name": "Aurocephalosyndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aurocephalosyndactyly"], "xref": ["GARD:0009218", "MEDGEN:354732", "MESH:C566235", "OMIM:109050", "Orphanet:1219", "UMLS:C1862380", "icd11.foundation:1849836237"]}
{"category": ["biolink:Disease"], "description": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).", "id": "MONDO:0007179", "name": "Autoimmune disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autoimmune disease", "autoimmune disease or disorder", "autoimmune disorder", "disease, autoimmune"], "xref": ["DOID:417", "EFO:0005809", "ICD9:279.4", "ICD9:279.49", "ICD9:720", "MEDGEN:2135", "MESH:D001327", "NCIT:C2889", "OBI:1110054", "OMIM:109100", "SCTID:85828009", "UMLS:C0004364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007180", "name": "Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities"], "xref": ["MEDGEN:349489", "MESH:C566234", "OMIM:109120", "Orphanet:1831", "UMLS:C1862373"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007181", "name": "Axial osteomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["axial osteomalacia"], "xref": ["DOID:0080039", "GARD:0008431", "MEDGEN:354730", "MESH:C537791", "OMIM:109130", "UMLS:C1862372"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.", "id": "MONDO:0007182", "name": "Machado-joseph disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Azorean disease of the nervous system", "MJD", "Machado disease", "Machado-Joseph disease", "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia", "SCA3", "autosomal dominant striatonigral degeneration", "spinocerebellar ataxia 3", "spinocerebellar ataxia type 3"], "xref": ["DOID:1440", "GARD:0006801", "ICD9:336.8", "MEDGEN:9841", "MESH:D017827", "NANDO:1200041", "NCIT:C84830", "NORD:1389", "OMIM:109150", "Orphanet:98757", "SCTID:91952008", "UMLS:C0024408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007183", "name": "Azotemia, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["azotemia, familial"], "xref": ["MEDGEN:400033", "MESH:C566233", "OMIM:109160", "UMLS:C1862358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007184", "name": "Alopecia, androgenetic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGA1", "alopecia, androgenetic, 1"], "xref": ["GARD:0024530", "MEDGEN:886756", "OMIM:109200", "UMLS:C4049090"]}
{"category": ["biolink:Disease"], "description": "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.", "id": "MONDO:0007185", "name": "Banki syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Banki syndrome"], "xref": ["GARD:0000813", "MEDGEN:350648", "MESH:C566228", "OMIM:109300", "Orphanet:1228", "SCTID:733093004", "UMLS:C1862319"]}
{"category": ["biolink:Disease"], "description": "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.", "id": "MONDO:0007186", "name": "Gastroesophageal reflux disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GERD", "acid reflux", "gastroesophageal reflux", "gastroesophageal reflux disease"], "xref": ["DOID:8534", "EFO:0003948", "ICD9:530.81", "MEDGEN:6553", "MESH:D005764", "NCIT:C26781", "OMIM:109350", "SCTID:235595009", "UMLS:C0017168", "icd11.foundation:1391387859"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.", "id": "MONDO:0007187", "name": "Nevoid basal cell carcinoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Gorlin syndrome", "Gorlin-Goltz syndrome", "NBCCS", "basal cell nevus syndrome", "multiple basal cell carcinomas", "nevoid basal cell cancer syndrome", "nevoid basal cell carcinoma syndrome"], "xref": ["DOID:0070365", "DOID:2512", "GARD:0007166", "MEDGEN:2554", "MESH:D001478", "MedDRA:10062804", "NANDO:2200828", "NCIT:C2892", "NORD:1507", "OMIMPS:109400", "Orphanet:377", "SCTID:69408002", "UMLS:C0004779", "icd11.foundation:1012745138"]}
{"category": ["biolink:Disease"], "description": "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.", "id": "MONDO:0007188", "name": "Primary basilar invagination", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bull-Nixon syndrome"], "xref": ["GARD:0001037", "MEDGEN:400018", "MESH:C566226", "OMIM:109500", "Orphanet:2285", "UMLS:C1862299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007190", "name": "Leukemia, chronic lymphocytic, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, chronic lymphocytic, susceptibility to, 2", "leukemia, chronic lymphocytic, susceptibility to, type 2"], "xref": ["GARD:0027774", "MEDGEN:358385", "OMIM:109543", "UMLS:C1868683"]}
{"category": ["biolink:Disease"], "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.", "id": "MONDO:0007191", "name": "Behcet disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bechet syndrome", "Behcet disease", "Behcet syndrome", "Behcet's syndrome", "Behçet disease", "Behçet syndrome", "Behçet's syndrome", "Behçet-Adamantiades syndrome", "Morbus Behçet's syndrome", "silk road disease"], "xref": ["DOID:13241", "EFO:0003780", "GARD:0000848", "ICD9:136.1", "MEDGEN:2568", "MESH:D001528", "MedDRA:10004213", "NANDO:1200284", "NANDO:2200422", "NCIT:C34416", "OMIM:109650", "Orphanet:117", "SCTID:310701003", "UMLS:C0004943", "icd11.foundation:1668927157"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007192", "name": "Beta-amino acids, renal transport of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AABT"], "xref": ["MEDGEN:349470", "OMIM:109660", "UMLS:C1862289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007193", "name": "Primary biliary cholangitis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070358", "GARD:0015043", "MEDGEN:1642459", "OMIM:109720", "UMLS:C4551595"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).", "id": "MONDO:0007194", "name": "Familial bicuspid aortic valve", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial BAV"], "xref": ["DOID:0080332", "GARD:0017670", "MEDGEN:1670287", "OMIMPS:109730", "Orphanet:402075", "UMLS:C4749284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007195", "name": "Bifid nose, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bifid nose, autosomal dominant"], "xref": ["GARD:0015044", "MEDGEN:414016", "OMIM:109740", "UMLS:C2751431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007197", "name": "Bladder diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bladder diverticulum", "bladder diverticulum (disease)", "diverticulum of bladder"], "xref": ["DOID:11353", "HP:0000015", "ICD10CM:N32.3", "ICD9:596.3", "MEDGEN:57625", "MESH:C562406", "NCIT:C160155", "OMIM:109820", "SCTID:197866008", "UMLS:C0156273"]}
{"category": ["biolink:Disease"], "description": "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.", "id": "MONDO:0007198", "name": "Ascher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ascher syndrome", "blepharochalasis and Double type lip", "blepharochalasis-double lip syndrome"], "xref": ["GARD:0000201", "ICD9:246.8", "ICD9:374.89", "MEDGEN:137910", "MESH:C562742", "OMIM:109900", "Orphanet:1253", "SCTID:28599006", "UMLS:C0339085", "icd11.foundation:1063203220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007199", "name": "Blepharochalasis, superior", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blepharochalasis, superior"], "xref": ["MEDGEN:349465", "MESH:C566223", "OMIM:110000", "UMLS:C1862275"]}
{"category": ["biolink:Disease"], "description": "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.", "id": "MONDO:0007200", "name": "Blepharonasofacial malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pashayan syndrome", "Pashayan-Prozansky syndrome", "blepharonasofacial malformation syndrome"], "xref": ["GARD:0004238", "MEDGEN:163226", "MESH:C536303", "OMIM:110050", "Orphanet:1252", "SCTID:717913006", "UMLS:C0796197"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).", "id": "MONDO:0007201", "name": "Blepharophimosis, ptosis, and epicanthus inversus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BPES", "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome", "blepharophimosis types 1 and 2", "blepharophimosis, epicanthus inversus, and ptosis, type 1", "blepharophimosis, epicanthus inversus, and ptosis, type 2", "blepharophimosis, ptosis, and epicanthus inversus", "blepharophimosis, ptosis, and epicanthus inversus syndrome", "blepharophimosis, ptosis, epicanthus inversus syndrome", "blepharophimosis-epicanthus inversus-ptosis syndrome"], "xref": ["DOID:14778", "GARD:0000023", "MEDGEN:66312", "MESH:C562419", "NORD:862", "OMIM:110100", "Orphanet:126", "SCTID:715391004", "UMLS:C0220663"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.", "id": "MONDO:0007202", "name": "Blepharoptosis-myopia-ectopia lentis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000912", "MEDGEN:400006", "MESH:C536236", "OMIM:110150", "Orphanet:1259", "SCTID:717915004", "UMLS:C1862259"]}
{"category": ["biolink:Disease"], "description": "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.", "id": "MONDO:0007203", "name": "Blue rubber bleb nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BRBN", "BRBNS", "Blue Rubber Bleb Nevus syndrome", "bean syndrome", "blue rubber bleb nevus", "blue rubber bleb nevus syndrome"], "xref": ["GARD:0005940", "MEDGEN:83401", "MESH:C536240", "NANDO:2201027", "NCIT:C4486", "NORD:865", "OMIM:112200", "Orphanet:1059", "SCTID:254784002", "UMLS:C0346072"]}
{"category": ["biolink:Disease"], "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.", "id": "MONDO:0007204", "name": "Cole-carpenter syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cole-Carpenter syndrome 1", "Cole-Carpenter syndrome caused by mutation in P4HB", "Cole-Carpenter syndrome type 1", "P4HB Cole-Carpenter syndrome"], "xref": ["GARD:0024531", "MEDGEN:1374755", "OMIM:112240", "UMLS:C4317154"]}
{"category": ["biolink:Disease"], "description": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).", "id": "MONDO:0007205", "name": "Diaphyseal medullary stenosis-bone malignancy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMS-MFH", "Hardcastle syndrome", "Hardcastle's syndrome", "bone dysplasia-medullary fibrosarcoma syndrome", "diaphyseal medullary stenosis-bone malignancy syndrome", "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"], "xref": ["DOID:0080664", "GARD:0010072", "MEDGEN:350613", "NCIT:C122660", "OMIM:112250", "Orphanet:85182", "UMLS:C1862177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007206", "name": "Bone pain, periodic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bone pain, periodic"], "xref": ["MEDGEN:350612", "OMIM:112270", "UMLS:C1862176"]}
{"category": ["biolink:Disease"], "description": "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.", "id": "MONDO:0007207", "name": "Böök syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Böök syndrome", "book syndrome"], "xref": ["GARD:0000932", "MEDGEN:99140", "MESH:C562993", "OMIM:112300", "Orphanet:1262", "SCTID:722296002", "UMLS:C0457014"]}
{"category": ["biolink:Disease"], "description": "A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.", "id": "MONDO:0007208", "name": "Boomerang dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Boomerang dysplasia"], "xref": ["DOID:0050680", "GARD:0000933", "ICD9:756.9", "MEDGEN:96579", "MESH:C536573", "OMIM:112310", "Orphanet:1263", "SCTID:254054000", "UMLS:C0432201", "icd11.foundation:423736259"]}
{"category": ["biolink:Disease"], "description": "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.", "id": "MONDO:0007209", "name": "Weismann-netter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WEISMANN-NETTER syndrome", "WNS", "Weismann Netter Stuhl Syndrome", "Weismann Netter syndrome", "Weismann-Netter syndrome", "Weismann-Netter-Stuhl syndrome", "anterior bowing of legs with dwarfism"], "xref": ["GARD:0005232", "MEDGEN:350610", "MESH:C537082", "NORD:1843", "OMIM:112350", "Orphanet:3344", "SCTID:715532007", "UMLS:C1862172", "icd11.foundation:180927608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007210", "name": "Brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay"], "xref": ["MEDGEN:396307", "MESH:C566206", "OMIM:112370", "UMLS:C1862171"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.", "id": "MONDO:0007211", "name": "Brachydactyly-arterial hypertension syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bilginturan brachydactyly", "Bilginturan syndrome", "brachydactyly type E, with short stature and hypertension"], "xref": ["DOID:0111247", "GARD:0000967", "MEDGEN:349445", "MESH:C537095", "OMIM:112410", "Orphanet:1276", "SCTID:720568003", "UMLS:C1862170"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.", "id": "MONDO:0007212", "name": "Brachydactyly-long thumb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["brachydactyly, long thumb type"], "xref": ["GARD:0000968", "MEDGEN:350609", "MESH:C566204", "OMIM:112430", "Orphanet:2946", "SCTID:733454004", "UMLS:C1862169"]}
{"category": ["biolink:Disease"], "description": "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.", "id": "MONDO:0007213", "name": "Ballard syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Pitt-Williams brachydactyly", "brachydactyly types B and E combined"], "xref": ["DOID:0110963", "GARD:0000959", "MEDGEN:349443", "MESH:C537094", "OMIM:112440", "Orphanet:93395", "SCTID:722298001", "UMLS:C1862163", "icd11.foundation:94436217"]}
{"category": ["biolink:Disease"], "description": "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.", "id": "MONDO:0007214", "name": "Brachydactyly-preaxial hallux varus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Christian brachydactyly"], "xref": ["DOID:0110962", "GARD:0000972", "MEDGEN:349442", "MESH:C537087", "OMIM:112450", "Orphanet:1278", "UMLS:C1862162"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.", "id": "MONDO:0007215", "name": "Brachydactyly type a1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDA1", "brachydactyly, Farabee type"], "xref": ["DOID:0110964", "GARD:0000978", "MEDGEN:354673", "MESH:C537088", "OMIM:112500", "Orphanet:93388", "SCTID:715720006", "UMLS:C1862151", "icd11.foundation:568452529"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.", "id": "MONDO:0007216", "name": "Brachydactyly type a2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDA2", "Mohr-Wriedt type brachydactyly", "brachydactyly, Mohr-Wriedt type"], "xref": ["DOID:0110965", "GARD:0000979", "MEDGEN:318690", "MESH:C537089", "OMIM:112600", "Orphanet:93396", "SCTID:720569006", "UMLS:C1832702", "icd11.foundation:594491464"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007217", "name": "Brachydactyly type a3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDA3", "brachydactyly-clinodactyly"], "xref": ["DOID:0110966", "GARD:0027353", "MEDGEN:354670", "MESH:C537090", "OMIM:112700", "Orphanet:93393", "UMLS:C1862140", "icd11.foundation:153446585"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.", "id": "MONDO:0007218", "name": "Brachydactyly type a4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDA4", "Brachymesophalangy II and V", "Temtamy type brachydactyly", "brachydactyly, Temtamy type", "brachymesophalangy II and V"], "xref": ["DOID:0110967", "GARD:0000990", "MEDGEN:354669", "MESH:C537097", "OMIM:112800", "Orphanet:93394", "SCTID:715721005", "UMLS:C1862139", "icd11.foundation:10379198"]}
{"category": ["biolink:Disease"], "description": "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.", "id": "MONDO:0007219", "name": "Osebold-remondini syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDA6", "Osebold-Remondini syndrome", "brachydactyly type A6", "brachydactyly, type A6", "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities"], "xref": ["DOID:0110968", "GARD:0000983", "MEDGEN:350598", "MESH:C537092", "OMIM:112910", "Orphanet:93382", "SCTID:715722003", "UMLS:C1862130"]}
{"category": ["biolink:Disease"], "description": "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.", "id": "MONDO:0007220", "name": "Brachydactyly type b1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BDB1", "ROR2 brachydactyly type B", "brachydactyly type B caused by mutation in ROR2"], "xref": ["DOID:0110969", "GARD:0018009", "MEDGEN:349432", "MESH:C566196", "OMIM:113000", "Orphanet:572385", "UMLS:C1862112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007221", "name": "Brachydactyly type c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachydactyly type C"], "xref": ["DOID:0110970", "GARD:0000986", "MEDGEN:350590", "MESH:C537093", "OMIM:113100", "Orphanet:93384", "UMLS:C1862103", "icd11.foundation:956707061"]}
{"category": ["biolink:Disease"], "description": "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.", "id": "MONDO:0007222", "name": "Brachydactyly type d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDD"], "xref": ["DOID:0110971", "GARD:0027354", "MEDGEN:66313", "MESH:C562420", "OMIM:113200", "Orphanet:93385", "UMLS:C0220664", "icd11.foundation:642882691"]}
{"category": ["biolink:Disease"], "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.", "id": "MONDO:0007223", "name": "Brachydactyly type e1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDE1", "HOXD13 brachydactyly type E", "brachydactyly type E caused by mutation in HOXD13"], "xref": ["DOID:0110972", "GARD:0024533", "MEDGEN:396291", "MESH:C566194", "OMIM:113300", "UMLS:C1862102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007224", "name": "Brachydactyly, type e, with atrial septal defect, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024534", "MEDGEN:354662", "MESH:C566193", "OMIM:113301", "UMLS:C1862101"]}
{"category": ["biolink:Disease"], "description": "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.", "id": "MONDO:0007225", "name": "Fibular aplasia-ectrodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002331", "MEDGEN:396290", "MESH:C537930", "OMIM:113310", "Orphanet:1118", "UMLS:C1862100"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.", "id": "MONDO:0007226", "name": "Brachydactyly-nystagmus-cerebellar ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Biemond syndrome"], "xref": ["GARD:0000971", "ICD9:759.89", "MEDGEN:350589", "MESH:C566192", "OMIM:113400", "Orphanet:1246", "SCTID:205828009", "UMLS:C1862099"]}
{"category": ["biolink:Disease"], "description": "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.", "id": "MONDO:0007227", "name": "Sillence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachydactyly-symphalangism syndrome"], "xref": ["GARD:0004869", "MEDGEN:354659", "MESH:C537338", "OMIM:113450", "Orphanet:3168", "SCTID:732956000", "UMLS:C1862092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007228", "name": "Brachymesomelia-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachymesomelia-renal syndrome"], "xref": ["MEDGEN:350586", "MESH:C537096", "OMIM:113470", "UMLS:C1862084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007229", "name": "Brachymetatarsus 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Brachymetatarsus type 4"], "xref": ["MEDGEN:396286", "OMIM:113475", "UMLS:C1862083"]}
{"category": ["biolink:Disease"], "description": "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.", "id": "MONDO:0007230", "name": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Brachymorphism-onychodysplasia-dysphalangism syndrome", "Senior syndrome", "bod syndrome"], "xref": ["GARD:0000918", "MEDGEN:350585", "MESH:C536242", "OMIM:113477", "Orphanet:1292", "SCTID:720573009", "UMLS:C1862082"]}
{"category": ["biolink:Disease"], "description": "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.", "id": "MONDO:0007231", "name": "Brachytelephalangy-dysmorphism-kallmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016562", "MEDGEN:444052", "MESH:C537101", "OMIM:113480", "Orphanet:1295", "UMLS:C2931421"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.", "id": "MONDO:0007232", "name": "Autosomal dominant brachyolmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachyolmia type 3", "brachyolmia, autosomal dominant"], "xref": ["GARD:0010429", "MEDGEN:96583", "OMIM:113500", "Orphanet:93304", "SCTID:717264003", "UMLS:C0432227"]}
{"category": ["biolink:Disease"], "description": "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.", "id": "MONDO:0007233", "name": "Second branchial cleft anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["branchial cleft", "branchial cleft remnant", "second branchial cleft cyst", "second branchial cleft fistula"], "xref": ["GARD:0016968", "MEDGEN:840602", "NCIT:C104813", "OMIM:113600", "Orphanet:141022", "SCTID:73381000119100", "UMLS:C3874315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007234", "name": "Branchial myoclonus with spastic paraparesis and cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["branchial myoclonus with spastic paraparesis and cerebellar ataxia"], "xref": ["MEDGEN:349424", "MESH:C566188", "OMIM:113610", "UMLS:C1862071"]}
{"category": ["biolink:Disease"], "description": "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.", "id": "MONDO:0007235", "name": "Branchiooculofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BOFS", "BOFS syndrome", "Bof syndrome", "Branchio Oculo Facial Syndrome", "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing", "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging", "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing", "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging", "branchio-oculo-facial syndrome", "branchiooculofacial syndrome", "hemangiomatous branchial clefts-Lip Pseudocleft syndrome", "lip Pseudocleft-Hemangiomatous branchial cyst syndrome"], "xref": ["DOID:0050691", "GARD:0003212", "ICD9:759.89", "MEDGEN:91261", "NORD:871", "OMIM:113620", "Orphanet:1297", "SCTID:449821007", "UMLS:C0376524"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007236", "name": "Branchiootorenal syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["branchiootorenal syndrome 1", "branchiootorenal syndrome 1, with or without cataracts", "branchiootorenal syndrome type 1"], "xref": ["DOID:0111423", "GARD:0024535", "MEDGEN:1632634", "OMIM:113650", "UMLS:C4551702"]}
{"category": ["biolink:Disease"], "description": "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.", "id": "MONDO:0007237", "name": "Familial juvenile hypertrophy of the breast", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["familial juvenile gigantomastia", "juvenile gigantomastia", "juvenile macromastia", "virginal breast hypertrophy", "virginal mammary hypertrophy"], "xref": ["GARD:0009450", "MEDGEN:140798", "MESH:C536821", "OMIM:113670", "Orphanet:180176", "UMLS:C0405471"]}
{"category": ["biolink:Disease"], "description": "Absence of one or both mammary glands.", "id": "MONDO:0007238", "name": "Amastia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["amastia"], "xref": ["GARD:0024536", "MESH:C535565", "NCIT:C118459", "SCTID:75474006"]}
{"category": ["biolink:Disease"], "description": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.", "id": "MONDO:0007239", "name": "Epidermolytic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCIE", "EHK", "EI", "bullous congenital ichthyosiform erythroderma", "bullous congenital ichthyosiform erythroderma of Brock", "bullous ichthyosis", "epidermolytic hyperkeratosis", "epidermolytic ichthyosis", "ichthyosis hystrix Brocq type"], "xref": ["DOID:4603", "GARD:0024537", "MEDGEN:38179", "MESH:D017488", "NORD:1100", "OMIMPS:113800", "SCTID:254167000", "UMLS:C0079153", "icd11.foundation:1183730789"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.", "id": "MONDO:0007240", "name": "Progressive familial heart block, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Lenegre's disease", "PFHB1A", "SCN5A progressive familial heart block", "heart block, progressive, type IA", "progressive familial heart block caused by mutation in SCN5A", "progressive familial heart block, type IA"], "xref": ["DOID:0111074", "GARD:0001093", "MEDGEN:406301", "MESH:D002037", "NCIT:C126651", "OMIM:113900", "UMLS:C1879286"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007241", "name": "Bundle branch block, familial isolated complete right", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bundle branch block, familial isolated complete right"], "xref": ["MEDGEN:83311", "MESH:C562759", "OMIM:113950", "SCTID:233919006", "UMLS:C0340504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007242", "name": "Butyrylesterase 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Butyrylesterase type 1", "butyrylesterase 1"], "xref": ["MEDGEN:396267", "OMIM:113960", "UMLS:C1861981"]}
{"category": ["biolink:Disease"], "description": "A rare form of malignant mature B-cell non-Hodgkin lymphoma.", "id": "MONDO:0007243", "name": "Burkitt lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Burkitt lymphoma", "Burkitt lymphoma/leukemia", "Burkitt's lymphoma", "Burkitt's tumour", "Burkitt's tumour or lymphoma", "burkitt lymphoma, somatic", "small non-cleaved cell lymphoma", "small non-cleaved cell lymphoma, Burkitt's type"], "xref": ["DOID:8584", "EFO:0000309", "GARD:0005973", "ICD10CM:C83.7", "ICD9:200.2", "ICDO:9687/3", "MEDGEN:2377", "MESH:D002051", "MedDRA:10006595", "MedDRA:10053518", "MedDRA:10067184", "NCIT:C2912", "OMIM:113970", "ONCOTREE:BL", "Orphanet:543", "SCTID:118617000", "UMLS:C0006413", "icd11.foundation:2100138081"]}
{"category": ["biolink:Disease"], "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.", "id": "MONDO:0007244", "name": "Caffey disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Caffey disease", "infantile cortical hyperostosis"], "xref": ["DOID:4257", "GARD:0001051", "ICD9:756.59", "MEDGEN:43781", "MESH:D006958", "NCIT:C118423", "OMIM:114000", "Orphanet:1310", "SCTID:24752008", "UMLS:C0020497"]}
{"category": ["biolink:Disease"], "description": "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.", "id": "MONDO:0007245", "name": "Cafe au lait spots, multiple", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NF6", "autosomal dominant café au lait spots", "cafe-au-lait spots, multiple", "familial cafe-au-lait spots", "familial café-au-lait spots", "multiple cafe-au-lait spots", "multiple cafe-au-lait syndrome", "multiple café-au-lait spots", "multiple café-au-lait syndrome", "neurofibromatosis type 6"], "xref": ["GARD:0003967", "MEDGEN:396266", "MESH:C537421", "OMIM:114030", "Orphanet:2678", "UMLS:C1861975"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007246", "name": "Calcific aortic disease with immunologic abnormalities, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["calcific aortic disease with immunologic abnormalities, familial"], "xref": ["MEDGEN:354631", "MESH:C566182", "OMIM:114065", "UMLS:C1861974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007247", "name": "Basal ganglia calcification, idiopathic, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["basal ganglia calcification, idiopathic, childhood-onset"], "xref": ["GARD:0009598", "MEDGEN:396262", "MESH:C536276", "OMIM:114100", "UMLS:C1861967"]}
{"category": ["biolink:Disease"], "description": "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.", "id": "MONDO:0007248", "name": "Hereditary painful callosities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPK nummularis", "Plamoplantar hyperkeratosis nummularis", "Plamoplantar keratoderma nummularis", "keratosis palmoplantaris nummularis"], "xref": ["GARD:0016705", "MEDGEN:349400", "MESH:C566180", "OMIM:114140", "Orphanet:79141", "UMLS:C1861964"]}
{"category": ["biolink:Disease"], "description": "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.", "id": "MONDO:0007249", "name": "Camptobrachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["camptobrachydactyly"], "xref": ["GARD:0001062", "MEDGEN:349399", "MESH:C537967", "OMIM:114150", "Orphanet:1319", "SCTID:733045005", "UMLS:C1861963"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.", "id": "MONDO:0007250", "name": "Camptodactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009448", "ICD9:755.59", "MEDGEN:416550", "MESH:C536852", "MESH:C567780", "OMIM:114200", "Orphanet:295016", "SCTID:29271008", "UMLS:C2751430", "icd11.foundation:1449348512"]}
{"category": ["biolink:Disease"], "description": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).", "id": "MONDO:0007251", "name": "Campomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD", "Campomelic Syndrome", "campomelic dwarfism", "campomelic dysplasia"], "xref": ["DOID:0050463", "GARD:0010027", "ICD9:733.29", "MEDGEN:354620", "MESH:D055036", "NCIT:C84609", "NORD:884", "OMIM:114290", "Orphanet:140", "SCTID:74928006", "UMLS:C1861922", "icd11.foundation:913761638"]}
{"category": ["biolink:Disease"], "description": "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.", "id": "MONDO:0007252", "name": "Gordon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gordon syndrome", "camptodactyly-cleft palate-clubfoot syndrome", "distal arthrogryposis type 3", "distal arthrogryposis type IIA"], "xref": ["DOID:0111607", "GARD:0002553", "ICD9:579.8", "MEDGEN:66314", "MESH:C537288", "NORD:1199", "OMIM:114300", "Orphanet:376", "SCTID:237850008", "UMLS:C0220666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007253", "name": "Cancer, familial, with in vitro radioresistance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:396248", "MESH:C566179", "OMIM:114450", "UMLS:C1861915"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.", "id": "MONDO:0007254", "name": "Breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast cancer", "cancer of breast", "malignant breast neoplasm", "malignant breast tumor", "malignant breast tumour", "malignant neoplasm of breast", "malignant neoplasm of the breast", "malignant tumor of breast", "malignant tumor of the breast", "malignant tumour of breast", "malignant tumour of the breast"], "xref": ["DOID:1612", "ICD10CM:C50", "ICD9:174.8", "MEDGEN:651", "NCIT:C9335", "SCTID:254837009", "UMLS:C0006142", "icd11.foundation:1047754165"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.", "id": "MONDO:0007256", "name": "Hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HCC", "cancer, hepatocellular", "carcinoma of liver", "carcinoma of liver cells", "carcinoma of the liver cells", "carcinoma, hepatocellular, malignant", "hepatoblastoma, somatic", "hepatocellular adenocarcinoma", "hepatocellular cancer", "hepatocellular cancer, somatic", "hepatocellular carcinoma", "hepatocellular carcinoma, childhood type, somatic", "hepatocellular carcinoma, somatic", "hepatoma", "liver carcinoma", "liver cell cancer (hepatocellular carcinoma)", "liver cell carcinoma", "primary carcinoma of liver cells", "primary carcinoma of the liver cells"], "xref": ["DOID:684", "DOID:686", "EFO:0000182", "GARD:0016773", "ICD10CM:C22.0", "ICDO:8170/3", "MEDGEN:389187", "MESH:D006528", "MedDRA:10049010", "NANDO:2200047", "NCIT:C3099", "NORD:1907", "OMIM:114550", "ONCOTREE:HCC", "Orphanet:88673", "UMLS:C2239176", "icd11.foundation:1294035808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007257", "name": "Candidiasis, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CANDF1", "candidiasis, familial, 1", "candidiasis, familial, 1, autosomal dominant"], "xref": ["GARD:0024538", "MEDGEN:414015", "MESH:C567779", "OMIM:114580", "UMLS:C2751429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007258", "name": "Canine teeth, absence of upper permanent", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["canine teeth, absence of upper permanent"], "xref": ["MEDGEN:396244", "OMIM:114600", "UMLS:C1861899"]}
{"category": ["biolink:Disease"], "description": "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).", "id": "MONDO:0007259", "name": "Craniofaciofrontodigital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cantu craniofaciofrontodigital syndrome", "craniofaciofrontodigital syndrome"], "xref": ["GARD:0017571", "MEDGEN:393947", "MESH:C567298", "OMIM:114620", "Orphanet:363705", "SCTID:763320005", "UMLS:C2676032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007260", "name": "Car factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["Car factor deficiency"], "xref": ["MEDGEN:354615", "MESH:C566176", "OMIM:114650", "UMLS:C1861898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007261", "name": "Carabelli anomaly of maxillary molar teeth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Carabelli anomaly of maxillary molar teeth"], "xref": ["MEDGEN:396243", "MESH:C566175", "OMIM:114700", "UMLS:C1861897"]}
{"category": ["biolink:Disease"], "description": "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.", "id": "MONDO:0007263", "name": "Cardiac rhythm disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arrhythmia"], "xref": ["ICD9:427.9", "MEDGEN:2039", "NCIT:C2881", "SCTID:698247007", "UMLS:C0003811"]}
{"category": ["biolink:Disease"], "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.", "id": "MONDO:0007265", "name": "Cardiofaciocutaneous syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BRAF cardiofaciocutaneous syndrome", "cardiofaciocutaneous syndrome 1", "cardiofaciocutaneous syndrome caused by mutation in BRAF", "cardiofaciocutaneous syndrome type 1"], "xref": ["DOID:0111460", "GARD:0024539", "OMIM:115150"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.", "id": "MONDO:0007266", "name": "Hypertrophic cardiomyopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH2", "TNNT2 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 2", "cardiomyopathy, hypertrophic, 2", "familial hypertrophic cardiomyopathy type 2", "hypertrophic cardiomyopathy 2", "hypertrophic cardiomyopathy caused by mutation in TNNT2", "hypertrophic cardiomyopathy type 2"], "xref": ["DOID:0110308", "GARD:0024540", "MEDGEN:349383", "MESH:C566171", "NCIT:C142892", "OMIM:115195", "UMLS:C1861864"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.", "id": "MONDO:0007267", "name": "Hypertrophic cardiomyopathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH3", "TPM1 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 3", "cardiomyopathy, hypertrophic, 3", "hypertrophic cardiomyopathy 3", "hypertrophic cardiomyopathy caused by mutation in TPM1", "hypertrophic cardiomyopathy type 3"], "xref": ["DOID:0110309", "GARD:0024541", "MEDGEN:349382", "MESH:C566170", "OMIM:115196", "UMLS:C1861863"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.", "id": "MONDO:0007268", "name": "Hypertrophic cardiomyopathy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH4", "MYBPC3 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, 4", "cardiomyopathy, familial hypertrophic, type 4", "cardiomyopathy, hypertrophic, 4", "familial hypertrophic cardiomyopathy type 4", "hypertrophic cardiomyopathy 4", "hypertrophic cardiomyopathy caused by mutation in MYBPC3", "hypertrophic cardiomyopathy type 4"], "xref": ["DOID:0110310", "GARD:0024542", "MEDGEN:350526", "MESH:C566169", "NCIT:C133725", "OMIM:115197", "UMLS:C1861862"]}
{"category": ["biolink:Disease"], "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.", "id": "MONDO:0007269", "name": "Dilated cardiomyopathy 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDCD1", "LMNA familial isolated dilated cardiomyopathy", "cardiomyopathy dilated with conduction defect type 1", "cardiomyopathy, dilated, type 1A", "dilated cardiomyopathy 1A", "dilated cardiomyopathy type 1A", "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "familial isolated dilated cardiomyopathy caused by mutation in LMNA"], "xref": ["DOID:0110425", "GARD:0018615", "MEDGEN:1875382", "OMIM:115200", "Orphanet:300751", "SCTID:766883006", "UMLS:C5979868", "icd11.foundation:884022112"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.", "id": "MONDO:0007270", "name": "Cardiomyopathy, familial restrictive, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TNNI3 familial isolated restrictive cardiomyopathy", "cardiomyopathy, familial restrictive, 1", "cardiomyopathy, familial restrictive, type 1", "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3"], "xref": ["DOID:0111425", "GARD:0018070", "MEDGEN:396236", "MESH:C566168", "OMIM:115210", "UMLS:C1861861"]}
{"category": ["biolink:Disease"], "description": "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.", "id": "MONDO:0007271", "name": "Familial cutaneous collagenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009799", "MEDGEN:96073", "MESH:C562925", "OMIM:115250", "Orphanet:53296", "SCTID:239139000", "UMLS:C0406817", "icd11.foundation:982220551"]}
{"category": ["biolink:Disease"], "description": "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.", "id": "MONDO:0007272", "name": "Hereditary hypercarotenemia and vitamin a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017090", "MEDGEN:393944", "MESH:C567296", "OMIM:115300", "Orphanet:199285", "SCTID:726079008", "UMLS:C2676023"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).", "id": "MONDO:0007273", "name": "Pheochromocytoma/paraganglioma syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SDHB paraganglioma", "SDHB-related tumor predisposition", "paraganglioma caused by mutation in SDHB", "paragangliomas 4", "paragangliomas type 4", "pheochromocytoma/paraganglioma syndrome 4"], "xref": ["DOID:0061219", "GARD:0010546", "MEDGEN:349380", "OMIM:115310", "UMLS:C1861848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007274", "name": "Carpal displacement", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carpal displacement"], "xref": ["MEDGEN:348468", "OMIM:115400", "UMLS:C1861847"]}
{"category": ["biolink:Disease"], "description": "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.", "id": "MONDO:0007275", "name": "Carpal tunnel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carpal tunnel syndrome"], "xref": ["DOID:12169", "EFO:0004143", "GARD:0027775", "ICD10CM:G56.0", "ICD9:354.0", "MEDGEN:2856", "MESH:D002349", "NCIT:C34450", "OMIMPS:115430", "Orphanet:50838", "SCTID:57406009", "UMLS:C0007286", "icd11.foundation:1275186848"]}
{"category": ["biolink:Disease"], "description": "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.", "id": "MONDO:0007276", "name": "Cat-eye syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAT eye syndrome", "CES", "Cat Eye Syndrome", "cat-eye syndrome (Type I)"], "xref": ["DECIPHER:42", "GARD:0000026", "MEDGEN:120543", "MESH:C535918", "NCIT:C75477", "NORD:899", "OMIM:115470", "Orphanet:195", "SCTID:26445008", "UMLS:C0265493", "icd11.foundation:1813923633"]}
{"category": ["biolink:Disease"], "description": "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.", "id": "MONDO:0007277", "name": "Cataract-aberrant oral frenula-growth delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wellesley-Carman-French syndrome"], "xref": ["GARD:0005554", "MEDGEN:350520", "MESH:C536691", "OMIM:115645", "Orphanet:1373", "SCTID:715988005", "UMLS:C1861835"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in mutation in the region 14q22-q23.", "id": "MONDO:0007278", "name": "Cataract 32 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT32"], "xref": ["DOID:0110227", "GARD:0010236", "MEDGEN:854634", "OMIM:115650", "UMLS:C3887926"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 17q24.", "id": "MONDO:0007279", "name": "Cataract 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT7", "cataract 7", "cataract type 7"], "xref": ["DOID:0110260", "GARD:0015046", "OMIM:115660"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 1pter-p36.13.", "id": "MONDO:0007280", "name": "Cataract 8 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTRCT8", "cataract, congenital, Volkmann type"], "xref": ["DOID:0110228", "GARD:0001146", "MEDGEN:396230", "MESH:C538285", "OMIM:115665", "Orphanet:98983", "UMLS:C1861833"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.", "id": "MONDO:0007281", "name": "Cataract 4 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CRYGD cataract (disease)", "CTRCT4", "cataract (disease) caused by mutation in CRYGD"], "xref": ["DOID:0110234", "GARD:0001144", "MEDGEN:761925", "OMIM:115700", "UMLS:C3540850"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 2pter-p24.", "id": "MONDO:0007282", "name": "Cataract 29", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["cataract 29", "cataract type 29"], "xref": ["DOID:0110232", "GARD:0018233", "MEDGEN:811739", "OMIM:115800", "Orphanet:98990", "UMLS:C3805409"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.", "id": "MONDO:0007283", "name": "Cataract 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.", "CRYBA2 early-onset non-syndromic cataract", "CTRCT42", "cataract 42", "cataract type 42", "early-onset non-syndromic cataract caused by mutation in CRYBA2"], "xref": ["DOID:0110237", "GARD:0024543", "MEDGEN:859891", "OMIM:115900", "UMLS:C4011454"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.", "id": "MONDO:0007284", "name": "Cataract 20 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYGS cataract (disease)", "CTRCT20", "cataract (disease) caused by mutation in CRYGS"], "xref": ["DOID:0110240", "GARD:0024544", "MEDGEN:101117", "OMIM:116100", "UMLS:C0524524"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.", "id": "MONDO:0007285", "name": "Cataract 1 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CTRCT1", "GJA8 cataract (disease)", "cataract (disease) caused by mutation in GJA8", "cataract 1, multiple types, with or without microcornea"], "xref": ["DOID:0110231", "GARD:0015047", "MEDGEN:349374", "MESH:C566158", "OMIM:116200", "UMLS:C1861828"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.", "id": "MONDO:0007286", "name": "Cataract 30", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT30", "cataract 30", "cataract type 30"], "xref": ["DOID:0110248", "GARD:0024545", "MEDGEN:811741", "MESH:C566157", "OMIM:116300", "UMLS:C3805411"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.", "id": "MONDO:0007287", "name": "Cataract 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT41", "WFS1 early-onset non-syndromic cataract", "cataract 41", "cataract type 41", "early-onset non-syndromic cataract caused by mutation in WFS1"], "xref": ["DOID:0110241", "GARD:0018234", "MEDGEN:811742", "OMIM:116400", "UMLS:C3805412"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.", "id": "MONDO:0007288", "name": "Cataract 6 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT6", "EPHA2 cataract (disease)", "cataract (disease) caused by mutation in EPHA2"], "xref": ["DOID:0110229", "GARD:0010234", "MEDGEN:396229", "OMIM:116600", "UMLS:C1861825"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.", "id": "MONDO:0007289", "name": "Cataract 13 with adult i phenotype", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTRCT13", "cataract 13 with adult I phenotype"], "xref": ["DOID:0110242", "GARD:0024546", "MEDGEN:811703", "OMIM:116700", "UMLS:C3805373"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.", "id": "MONDO:0007290", "name": "Cataract 5 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTRCT5", "HSF4 cataract (disease)", "cataract (disease) caused by mutation in HSF4"], "xref": ["DOID:0110255", "GARD:0024547", "MEDGEN:78608", "MESH:C535342", "OMIM:116800", "UMLS:C0266537"]}
{"category": ["biolink:Disease"], "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.", "id": "MONDO:0007293", "name": "Leukocyte adhesion deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ITGB2 leukocyte adhesion deficiency", "LAD-I", "LAD1", "LFA-I deficiency", "LFA1 immunodeficiency", "lad-I", "lad-type I", "leukocyte adhesion deficiency 1", "leukocyte adhesion deficiency caused by mutation in ITGB2", "leukocyte adhesion deficiency type 1", "leukocyte adhesion deficiency type I", "lymphocyte function-associated antigen 1 immunodeficiency"], "xref": ["DOID:0110910", "GARD:0006893", "MEDGEN:98310", "MESH:C535887", "NCIT:C4689", "OMIM:116920", "Orphanet:99842", "SCTID:234582006", "UMLS:C0398738"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.", "id": "MONDO:0007294", "name": "Central core myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["central core disease"], "xref": ["DOID:3529", "EFO:1000855", "GARD:0006014", "MEDGEN:1841337", "MESH:D020512", "NANDO:1200479", "NANDO:2200870", "NCIT:C83010", "OMIM:117000", "Orphanet:597", "SCTID:43152001", "UMLS:C5830701", "icd11.foundation:2065822840"]}
{"category": ["biolink:Disease"], "description": "A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.", "id": "MONDO:0007295", "name": "Self-limited epilepsy with centrotemporal spikes", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCECTS", "BECRS", "BECTS", "BRE", "Rolandic epilepsy", "benign Rolandic epilepsy", "benign Rolandic epilepsy (BRE)", "benign Rolandic epilepsy of childhood (BREC)", "benign childhood epilepsy with centrotemporal spikes", "benign epilepsy of childhood with centrotemporal spikes", "benign epilepsy with centrotemporal spikes", "benign familial epilepsy of childhood with rolandic spikes", "centralopathic epilepsy", "centrotemporal epilepsy", "centrotemporal epilepsy, isolated cases", "childhood epilepsy with centrotemporal spikes", "temporal-central focal epilepsy"], "xref": ["DOID:3329", "GARD:0010287", "ICD9:345.80", "MEDGEN:138210", "NCIT:C116538", "OMIM:117100", "Orphanet:1945", "SCTID:44145005", "UMLS:C0376532", "icd11.foundation:1046279423"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.", "id": "MONDO:0007296", "name": "Spinocerebellar ataxia type 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA31", "spinocerebellar ataxia type 31"], "xref": ["DOID:0050980", "GARD:0009975", "MEDGEN:348439", "MESH:C566146", "NANDO:1200044", "NCIT:C176901", "OMIM:117210", "Orphanet:217012", "SCTID:715826005", "UMLS:C1861736", "icd11.foundation:250956064"]}
{"category": ["biolink:Disease"], "description": "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.", "id": "MONDO:0007297", "name": "Adan amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FDD", "HOOE", "Heredopathia Ophthalmootoencephalica", "cerebellar ataxia, cataract, deafness, and dementia Or psychosis", "cerebral amyloid angiopathy, ITM2B-related, type 2", "familial Danish dementia", "familial dementia, Danish type"], "xref": ["DOID:0070030", "GARD:0009169", "MEDGEN:396208", "MESH:C538209", "OMIM:117300", "Orphanet:97346", "UMLS:C1861735", "icd11.foundation:2086401830", "icd11.foundation:54507082"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.", "id": "MONDO:0007298", "name": "Spinocerebellar ataxia type 29", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA29", "congenital nonprogressive spinocerebellar ataxia", "spinocerebellar ataxia 29, congenital nonprogressive", "spinocerebellar ataxia type 29"], "xref": ["DOID:0050978", "GARD:0010480", "MEDGEN:350085", "MESH:C537206", "OMIM:117360", "Orphanet:208513", "SCTID:715825009", "UMLS:C1861732", "icd11.foundation:359640365"]}
{"category": ["biolink:Disease"], "description": "A sarcoma involving a telencephalon.", "id": "MONDO:0007300", "name": "Cerebral sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cerebral sarcoma", "sarcoma of telencephalon", "telencephalon sarcoma"], "xref": ["GARD:0010073", "MEDGEN:350081", "MESH:C537946", "OMIM:117600", "UMLS:C1861714"]}
{"category": ["biolink:Disease"], "description": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.", "id": "MONDO:0007301", "name": "Cerebrocostomandibular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cerebrocostomandibular syndrome"], "xref": ["DOID:0111248", "GARD:0006026", "ICD9:759.89", "MEDGEN:120537", "MESH:C562538", "NORD:914", "OMIM:117650", "Orphanet:1393", "SCTID:51780007", "UMLS:C0265342", "icd11.foundation:1475063064"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007302", "name": "Cervical hypertrichosis with underlying kyphoscoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical hypertrichosis with underlying kyphoscoliosis"], "xref": ["MEDGEN:349343", "MESH:C566142", "OMIM:117850", "UMLS:C1861695"]}
{"category": ["biolink:Disease"], "description": "A rib that is attached to a cervical vertebra or enlarged transverse processes.", "id": "MONDO:0007303", "name": "Cervical rib disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical rib", "cervical rib syndrome"], "xref": ["HP:0000891", "ICD10CM:Q76.5", "ICD9:756.2", "MEDGEN:102359", "MESH:D002573", "MedDRA:10008301", "NCIT:C158329", "OMIM:117900", "SCTID:72535009", "UMLS:C0158779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007304", "name": "Cervical vertebral bridge", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical vertebral Bridge"], "xref": ["MEDGEN:348426", "OMIM:118000", "UMLS:C1861694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007305", "name": "Cervical vertebral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical vertebral dysplasia", "cervical vertebral dysplasia (disease)"], "xref": ["HP:0008469", "MEDGEN:396199", "MESH:C566140", "OMIM:118005", "UMLS:C1861693"]}
{"category": ["biolink:Disease"], "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.", "id": "MONDO:0007306", "name": "Klippel-feil syndrome 1, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF6 isolated Klippel-Feil syndrome", "Klippel-Feil syndrome 1, autosomal dominant", "isolated Klippel-Feil syndrome caused by mutation in GDF6"], "xref": ["DOID:0080589", "GARD:0015049", "MEDGEN:396196", "MESH:C536887", "NORD:1336", "OMIM:118100", "UMLS:C1861689"]}
{"category": ["biolink:Disease"], "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.", "id": "MONDO:0007307", "name": "Charcot-marie-tooth disease type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1B", "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "Charcot-Marie-Tooth disease, type 1B", "HMSN IB", "HMSN1B", "MPZ Charcot-Marie-Tooth disease type 1"], "xref": ["DOID:0110152", "GARD:0001246", "MEDGEN:124377", "NCIT:C118782", "OMIM:118200", "Orphanet:101082", "UMLS:C0270912", "icd11.foundation:1632280319"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.", "id": "MONDO:0007308", "name": "Charcot-marie-tooth disease type 2a1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["CMT2A", "CMT2A1", "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B", "Charcot-Marie-Tooth disease type 2A", "Charcot-Marie-Tooth disease type 2A1", "Charcot-Marie-Tooth disease, type 2A1", "HMSN IIA1", "HMSN2A1", "KIF1B Charcot-Marie-Tooth disease type 2", "hereditary motor and sensory neuropathy IIA1"], "xref": ["DOID:0110154", "GARD:0001248", "MEDGEN:350076", "MESH:C566138", "NCIT:C134952", "NCIT:C150609", "OMIM:118210", "Orphanet:99946", "SCTID:717016001", "UMLS:C1861678", "icd11.foundation:2087067372"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.", "id": "MONDO:0007309", "name": "Charcot-marie-tooth disease type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1A", "Charcot-Marie-Tooth disease type 1A", "Charcot-Marie-Tooth disease, type 1A", "Charcot-Marie-Tooth syndrome type 1A", "HMSN1A", "hereditary motor and sensory neuropathy 1A", "microduplication 17p12"], "xref": ["DECIPHER:29", "DOID:0110148", "GARD:0001245", "MEDGEN:75727", "NCIT:C75468", "OMIM:118220", "Orphanet:101081", "UMLS:C0270911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007310", "name": "Charcot-marie-tooth disease, guadalajara neuronal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, Guadalajara neuronal type"], "xref": ["GARD:0024548", "MEDGEN:350075", "MESH:C566137", "OMIM:118230", "UMLS:C1861673"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.", "id": "MONDO:0007311", "name": "Charcot-marie-tooth disease type 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1E", "Charcot-Marie-Tooth disease and deafness", "Charcot-Marie-Tooth disease, type 1E", "Charcot-Marie-Tooth disease-deafness syndrome"], "xref": ["DOID:0110153", "GARD:0009190", "MEDGEN:501212", "MESH:C537986", "OMIM:118300", "Orphanet:90658", "UMLS:C3495591", "icd11.foundation:1924906594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007312", "name": "Charcot-marie-tooth disease with ptosis and parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease with ptosis and parkinsonism"], "xref": ["GARD:0000251", "MEDGEN:396191", "MESH:C538079", "OMIM:118301", "UMLS:C1861668"]}
{"category": ["biolink:Disease"], "description": "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.", "id": "MONDO:0007313", "name": "Cheilitis glandularis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cheilitis glandularis"], "xref": ["GARD:0000412", "MEDGEN:75626", "MESH:C535921", "OMIM:118330", "Orphanet:1221", "SCTID:26374003", "UMLS:C0267034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007314", "name": "Chemodectoma, intraabdominal, with cutaneous angiolipomas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chemodectoma, intraabdominal, with cutaneous angiolipomas"], "xref": ["GARD:0001265", "MEDGEN:443934", "MESH:C535552", "OMIM:118350", "UMLS:C2930928"]}
{"category": ["biolink:Disease"], "description": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.", "id": "MONDO:0007315", "name": "Cherubism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["CRBM", "cherubism", "familial fibrous dysplasia of the jaws", "familial multilocular cystic disease of the jaws"], "xref": ["DOID:1856", "GARD:0006036", "ICD9:526.89", "MEDGEN:40219", "MESH:D002636", "MedDRA:10070535", "NANDO:2200444", "NCIT:C84630", "OMIM:118400", "Orphanet:184", "SCTID:76098004", "UMLS:C0008029", "icd11.foundation:1729261719"]}
{"category": ["biolink:Disease"], "description": "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.", "id": "MONDO:0007316", "name": "Chiari malformation type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arnold-Chiari malformation type 1", "Arnold-Chiari malformation type I", "Chiari malformation type 1", "Chiari malformation type I"], "xref": ["GARD:0009233", "MEDGEN:196689", "MedDRA:10056944", "OMIM:118420", "Orphanet:268882", "SCTID:253185002", "UMLS:C0750929", "icd11.foundation:1383121646"]}
{"category": ["biolink:Disease"], "description": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.", "id": "MONDO:0007318", "name": "Alagille syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "syndromic bile duct paucity"], "xref": ["DOID:9245", "GARD:0000804", "ICD9:759.89", "MEDGEN:39014", "MESH:D016738", "MedDRA:10053870", "NANDO:1200918", "NANDO:1200919", "NANDO:2200931", "NCIT:C35139", "NORD:748", "OMIMPS:118450", "Orphanet:52", "SCTID:31742004", "UMLS:C0085280", "icd11.foundation:1249656206"]}
{"category": ["biolink:Disease"], "description": "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).", "id": "MONDO:0007319", "name": "Chondrocalcinosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Familial Calcium Pyrophosphate Deposition Disease", "calcium pyrophosphate dihydrate crystal deposition disease", "chondrocalcinosis 2", "chondrocalcinosis type 2", "familial CC", "familial CPPD", "familial articular chondrocalcinosis", "familial calcium pyrophosphate deposition", "familial calcium pyrophosphate dihydrate deposition disease", "hereditary CC", "hereditary articular chondrocalcinosis", "hereditary calcium pyrophosphate deposition"], "xref": ["GARD:0001292", "MEDGEN:163633", "MESH:C563162", "NORD:930", "OMIM:118600", "Orphanet:1416", "UMLS:C0856830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007320", "name": "Chondrocalcinosis due to apatite crystal deposition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chondrocalcinosis due to apatite crystal deposition"], "xref": ["MEDGEN:349317", "MESH:C535939", "OMIM:118610", "UMLS:C1861580"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of chondrodysplasia punctata.", "id": "MONDO:0007321", "name": "Autosomal dominant chondrodysplasia punctata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["chondrodysplasia punctata Sheffield type", "chondrodysplasia punctata, Sheffield type", "chondrodysplasia punctata, autosomal dominant"], "xref": ["DOID:0060293", "GARD:0001298", "MEDGEN:303176", "MESH:C563248", "OMIM:118650", "Orphanet:79344", "UMLS:C1442935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007322", "name": "Chondrodysplasia punctata, tibial-metacarpal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016715", "ICD9:756.59", "MEDGEN:98147", "MESH:C562961", "NANDO:2201359", "OMIM:118651", "Orphanet:79346", "SCTID:254083002", "UMLS:C0432224", "icd11.foundation:1513713461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007323", "name": "Chondronectin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Chondronectin"], "xref": ["MEDGEN:854532", "OMIM:118670", "UMLS:C3887693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007325", "name": "Choreoathetosis, familial inverted", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["choreoathetosis, familial inverted"], "xref": ["GARD:0024549", "MEDGEN:348393", "MESH:C566127", "OMIM:118750", "UMLS:C1861569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007327", "name": "Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase"], "xref": ["DOID:0111419", "GARD:0024550", "MEDGEN:348391", "MESH:C566126", "OMIM:118830", "UMLS:C1861560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007328", "name": "Choroidal osteoma, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["choroidal osteoma, bilateral"], "xref": ["MEDGEN:396164", "MESH:C566124", "OMIM:118865", "UMLS:C1861558"]}
{"category": ["biolink:Disease"], "description": "Cirrhosis in which no causative agent can be identified.", "id": "MONDO:0007329", "name": "Cirrhosis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["cirrhosis, familial", "cryptogenic cirrhosis", "hereditary cirrhosis of liver"], "xref": ["GARD:0024551", "MEDGEN:350049", "MESH:C566123", "NCIT:C84411", "OMIM:215600", "SCTID:6183001", "UMLS:C1861556"]}
{"category": ["biolink:Disease"], "description": "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.", "id": "MONDO:0007330", "name": "Congenital pseudoarthrosis of clavicle", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the clavicle"], "xref": ["GARD:0016673", "MEDGEN:75577", "MESH:C562548", "OMIM:118980", "Orphanet:66630", "SCTID:70794004", "UMLS:C0265565", "icd11.foundation:1844778103"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007332", "name": "Split-hand/foot malformation with long bone deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFLD1", "split-hand/foot malformation with long bone deficiency 1"], "xref": ["GARD:0015050", "MEDGEN:349310", "MESH:C536425", "OMIM:119100", "UMLS:C1861553"]}
{"category": ["biolink:Disease"], "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.", "id": "MONDO:0007333", "name": "Van der woude syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IRF6 van der Woude syndrome", "Van Der Woude syndrome type 1", "van der Woude syndrome 1", "van der Woude syndrome caused by mutation in IRF6"], "xref": ["GARD:0024552", "MEDGEN:1640616", "OMIM:119300", "UMLS:C4551864"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.", "id": "MONDO:0007334", "name": "Autosomal dominant popliteal pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["popliteal pterygium syndrome 1", "popliteal pterygium syndrome, autosomal dominant", "popliteal web syndrome"], "xref": ["GARD:0003242", "MEDGEN:1844082", "OMIM:119500", "Orphanet:1300", "SCTID:718222000", "UMLS:C5848052", "icd11.foundation:2069589860"]}
{"category": ["biolink:Disease"], "description": "Cleft lip with or without cleft palate mapped to chromosome 6p24.", "id": "MONDO:0007335", "name": "Orofacial cleft 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["OFC1", "orofacial cleft 1", "orofacial cleft-1"], "xref": ["DOID:0080395", "GARD:0027776", "MEDGEN:349303", "MESH:C566121", "NCIT:C124838", "OMIM:119530", "UMLS:C1861537"]}
{"category": ["biolink:Disease"], "description": "A cleft palate that is not part of a larger syndrome.", "id": "MONDO:0007336", "name": "Isolated cleft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["isolated cleft palate", "nonsyndromic cleft palate"], "xref": ["DOID:0110213", "GARD:0001896", "MEDGEN:332392", "OMIM:119540", "UMLS:C1837218"]}
{"category": ["biolink:Disease"], "description": "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.", "id": "MONDO:0007337", "name": "Cleft palate-lateral synechia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPLS syndrome", "cleft palate-lateral synechia syndrome"], "xref": ["DOID:0080313", "GARD:0001391", "ICD9:759.89", "MEDGEN:162888", "MESH:C563047", "OMIM:119550", "Orphanet:2016", "SCTID:403772000", "UMLS:C0795898"]}
{"category": ["biolink:Disease"], "description": "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.", "id": "MONDO:0007338", "name": "Cleft soft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cleft soft palate", "cleft velum", "cleft velum palatinum"], "xref": ["DOID:0110214", "GARD:0016907", "ICD10CM:Q35.3", "MEDGEN:98471", "MESH:C562950", "OMIM:119570", "Orphanet:99772", "SCTID:253997002", "UMLS:C0432098", "icd11.foundation:797497023"]}
{"category": ["biolink:Disease"], "description": "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.", "id": "MONDO:0007339", "name": "Blepharocheilodontic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["BCD syndrome", "Elsching syndrome", "blepharo-cheilo-odontic syndrome", "blepharocheilodontic syndrome", "clefting-ectropion-conical teeth syndrome", "ectropion inferior-cleft lip and or palate syndrome", "ectropion inferior-cleft lip and/or palate syndrome", "lagophthalmia-cleft lip and palate syndrome"], "xref": ["DOID:0080344", "GARD:0002071", "MEDGEN:349302", "MESH:C536188", "OMIMPS:119580", "Orphanet:1997", "SCTID:717911008", "UMLS:C1861536", "icd11.foundation:755252042"]}
{"category": ["biolink:Disease"], "description": "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.", "id": "MONDO:0007340", "name": "Cleidocranial dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cleidocranial Dysplasia", "cleidocranial dysostosis", "cleidocranial dysplasia"], "xref": ["DOID:13994", "GARD:0006118", "ICD9:755.59", "MEDGEN:3486", "MESH:D002973", "NCIT:C75020", "NORD:978", "OMIM:119600", "Orphanet:1452", "SCTID:65976001", "UMLS:C0008928"]}
{"category": ["biolink:Disease"], "description": "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0007341", "name": "Cleidorhizomelic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wallis-Zieff-Goldblatt syndrome", "cleidorhizomelic syndrome", "rhizomelic shortness with clavicular defect"], "xref": ["GARD:0005532", "MEDGEN:350042", "MESH:C536428", "OMIM:119650", "Orphanet:1453", "SCTID:719471002", "UMLS:C1861515"]}
{"category": ["biolink:Disease"], "description": "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.", "id": "MONDO:0007342", "name": "Clubfoot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["club foot", "clubbed foot", "congenital talipes equinovarus", "equinovarus deformity of foot (finding)", "talipes", "talipes equinovarus"], "xref": ["DOID:11836", "ICD10CM:Q66.0", "ICD9:754.51", "MEDGEN:3130", "MESH:D003025", "NCIT:C84641", "OMIM:119800", "SCTID:397932003", "UMLS:C0009081"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.", "id": "MONDO:0007343", "name": "Isolated congenital digital clubbing", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated congenital acropachy", "isolated congenital nail clubbing"], "xref": ["GARD:0017117", "MEDGEN:576901", "OMIM:119900", "Orphanet:217059", "UMLS:C0345408", "icd11.foundation:130631845"]}
{"category": ["biolink:Disease"], "description": "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007344", "name": "Cluster headache, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cluster headache, familial", "hereditary cluster headache syndrome"], "xref": ["GARD:0024553", "MEDGEN:350040", "MESH:C566117", "OMIM:119915", "UMLS:C1861513"]}
{"category": ["biolink:Disease"], "description": "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.", "id": "MONDO:0007345", "name": "Aorta coarctation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aortic coarctation"], "xref": ["DOID:0051054", "EFO:1001267", "GARD:0005828", "ICD10CM:Q25.1", "ICD9:747.10", "MEDGEN:1617", "MESH:D001017", "MedDRA:10009807", "NANDO:2200283", "NANDO:2200284", "NCIT:C84567", "OMIM:120000", "Orphanet:1457", "SCTID:7305005", "UMLS:C0003492", "icd11.foundation:1524185114"]}
{"category": ["biolink:Disease"], "description": "Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.", "id": "MONDO:0007346", "name": "Cochleosaccular degeneration-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009418", "MEDGEN:348378", "MESH:C536432", "OMIM:120040", "Orphanet:3233", "SCTID:715528001", "UMLS:C1861512"]}
{"category": ["biolink:Disease"], "description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.", "id": "MONDO:0007349", "name": "Familial cold autoinflammatory syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["NLRP3 familial cold autoinflammatory syndrome", "familial cold autoinflammatory syndrome 1", "familial cold autoinflammatory syndrome caused by mutation in NLRP3", "familial cold autoinflammatory syndrome type 1", "familial cold inflammatory syndrome 1"], "xref": ["DOID:0090062", "GARD:0015051", "MEDGEN:1647324", "OMIM:120100", "SCTID:238687000", "UMLS:C4551895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007350", "name": "Coloboma, ocular, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["coloboma, ocular", "coloboma, ocular, autosomal dominant"], "xref": ["MEDGEN:1859952", "OMIM:120200", "UMLS:C5886785"]}
{"category": ["biolink:Disease"], "description": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.", "id": "MONDO:0007351", "name": "Coloboma of macula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coloboma of macula"], "xref": ["GARD:0001436", "MEDGEN:342305", "OMIM:120300", "Orphanet:98945", "UMLS:C1852767", "icd11.foundation:366058642"]}
{"category": ["biolink:Disease"], "description": "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.", "id": "MONDO:0007352", "name": "Renal coloboma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAKUT with or without ocular abnormalities", "Papillo-renal syndrome", "coloboma of optic nerve with renal disease", "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities", "papillorenal syndrome", "renal-coloboma syndrome with macular abnormalities"], "xref": ["DOID:0090006", "GARD:0004106", "ICD9:759.89", "MEDGEN:339002", "MESH:C537168", "NCIT:C123230", "OMIM:120330", "Orphanet:1475", "SCTID:446449009", "UMLS:C1852759"]}
{"category": ["biolink:Disease"], "description": "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.", "id": "MONDO:0007353", "name": "Coloboma of macula-brachydactyly type b syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sorsby syndrome"], "xref": ["GARD:0001437", "MEDGEN:343882", "MESH:C535969", "OMIM:120400", "Orphanet:1471", "SCTID:717785002", "UMLS:C1852752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007354", "name": "Coloboma of optic nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coloboma of optic nerve (disease)", "coloboma of optic papilla", "optic nerve coloboma"], "xref": ["DOID:11975", "GARD:0001438", "HP:0000588", "ICD9:377.23", "MEDGEN:57832", "MESH:C535970", "OMIM:120430", "Orphanet:98947", "SCTID:17541006", "UMLS:C0155299", "icd11.foundation:592278969"]}
{"category": ["biolink:Disease"], "description": "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.", "id": "MONDO:0007355", "name": "Uveal coloboma-cleft lip and palate-intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["uveal coloboma-cleft lip and palate-intellectual disability"], "xref": ["DOID:0111249", "GARD:0001440", "MEDGEN:811762", "MESH:C535971", "OMIM:120433", "Orphanet:1473", "UMLS:C3805432"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.", "id": "MONDO:0007356", "name": "Lynch syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HNPCC1", "Hereditary non-polyposis colon cancer type 1", "Lynch 1 syndrome", "Lynch syndrome 1", "Lynch syndrome type 1", "MSH2-related Lynch syndrome", "familial non-polyposis colon cancer type 1", "hereditary nonpolyposis colorectal cancer type 1"], "xref": ["DOID:0070271", "GARD:0015052", "MEDGEN:423615", "MESH:C537261", "NCIT:C6725", "OMIM:120435", "UMLS:C2936783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007357", "name": "Colonic varices without portal hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colonic varices without portal hypertension"], "xref": ["MEDGEN:343875", "MESH:C565172", "OMIM:120440", "UMLS:C1852721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007358", "name": "Comedones, familial dyskeratotic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["comedones, familial Dyskeratotic"], "xref": ["ICD9:757.39", "MEDGEN:138018", "MESH:C562838", "OMIM:120450", "SCTID:254219004", "UMLS:C0345424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007359", "name": "Commissural lip pits", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["commissural lip pits"], "xref": ["MEDGEN:98001", "OMIM:120500", "SCTID:109550008", "UMLS:C0399605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007360", "name": "Branchiootic syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["branchiootic syndrome 2", "branchiootic syndrome type 2"], "xref": ["GARD:0015053", "MEDGEN:377737", "MESH:C565171", "OMIM:120502", "UMLS:C1852718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007361", "name": "C1 inhibitor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060002", "GARD:0024554", "MEDGEN:343867", "NANDO:1200365", "NANDO:2200795", "OMIM:120790", "Orphanet:459353", "UMLS:C1852700"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.", "id": "MONDO:0007362", "name": "Cone-rod dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD2", "CRD2", "CRX cone-rod dystrophy", "RCRD2", "cone-rod dystrophy 2", "cone-rod dystrophy caused by mutation in CRX", "cone-rod dystrophy type 2", "cone-rod retinal dystrophy-2"], "xref": ["DOID:0111005", "GARD:0006145", "ICD9:362.75", "MEDGEN:483485", "NCIT:C162399", "OMIM:120970", "SCTID:80328002", "UMLS:C3489532"]}
{"category": ["biolink:Disease"], "description": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.", "id": "MONDO:0007363", "name": "Congenital contractural arachnodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beals syndrome", "Beals-Hecht syndrome", "CCA", "CCA syndrome", "distal arthrogryposis type 9"], "xref": ["DOID:0111595", "GARD:0005899", "ICD9:759.89", "MEDGEN:67391", "MESH:C536211", "NANDO:2201026", "NCIT:C129865", "NORD:844", "OMIM:121050", "Orphanet:115", "SCTID:205821003", "UMLS:C0220668", "icd11.foundation:1376425921"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007364", "name": "Arthrogryposis, distal, type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["arthrogryposis, distal, type 2E"], "xref": ["GARD:0010135", "MEDGEN:343844", "MESH:C535384", "OMIM:121070", "UMLS:C1852597"]}
{"category": ["biolink:Disease"], "description": "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.", "id": "MONDO:0007365", "name": "Seizures, benign familial neonatal, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNQ2 benign neonatal seizures", "benign neonatal seizures caused by mutation in KCNQ2", "seizures, benign familial neonatal, 1", "seizures, benign familial neonatal, type 1", "seizures, benign neonatal, 1"], "xref": ["GARD:0009765", "MEDGEN:460425", "MESH:C567743", "OMIM:121200", "UMLS:C3149074"]}
{"category": ["biolink:Disease"], "description": "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.", "id": "MONDO:0007366", "name": "Seizures, benign familial neonatal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNQ3 benign neonatal seizures", "benign neonatal seizures caused by mutation in KCNQ3", "seizures, benign familial neonatal, 2", "seizures, benign familial neonatal, type 2", "seizures, benign neonatal, 2"], "xref": ["GARD:0015054", "MEDGEN:377707", "OMIM:121201", "UMLS:C1852581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007367", "name": "Febrile seizures, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB1", "febrile seizures, familial, 1"], "xref": ["DOID:0111307", "ICD9:780.39", "MEDGEN:338959", "MESH:C565162", "OMIM:121210", "SCTID:230432008", "UMLS:C1852577"]}
{"category": ["biolink:Disease"], "description": "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0007368", "name": "Familial benign copper deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001522", "MEDGEN:338958", "MESH:C535468", "OMIM:121270", "Orphanet:1551", "SCTID:763531001", "UMLS:C1852576"]}
{"category": ["biolink:Disease"], "description": "A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.", "id": "MONDO:0007369", "name": "Hereditary coproporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coproporphyrinogen oxidase deficiency", "hereditary coproporphyria"], "xref": ["DOID:13269", "GARD:0006619", "MEDGEN:57931", "MESH:D046349", "MedDRA:10019866", "NANDO:1200813", "NANDO:2201264", "NCIT:C84759", "NORD:1228", "OMIM:121300", "Orphanet:79273", "SCTID:7425008", "UMLS:C0162531", "icd11.foundation:1365918274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007370", "name": "Coracoclavicular joint, anomalous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["coracoclavicular joint, anomalous"], "xref": ["MEDGEN:377706", "MESH:C565161", "OMIM:121350", "UMLS:C1852561"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007371", "name": "Cornea guttata with anterior polar cataracts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cornea guttata with anterior polar cataracts"], "xref": ["GARD:0009507", "MEDGEN:338956", "MESH:C535471", "OMIM:121390", "UMLS:C1852558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007372", "name": "Cornea plana 1, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cornea plana 1, autosomal dominant"], "xref": ["GARD:0018049", "MEDGEN:343837", "MESH:C565158", "OMIM:121400", "UMLS:C1852557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007373", "name": "Corneal degeneration, ribbonlike, with deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["corneal degeneration, ribbonlike, with deafness"], "xref": ["MEDGEN:377705", "MESH:C565157", "OMIM:121450", "UMLS:C1852556"]}
{"category": ["biolink:Disease"], "description": "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.", "id": "MONDO:0007374", "name": "Schnyder corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCCD", "SCD", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy", "Schnyder crystalline dystrophy sine crystals", "corneal dystrophy, Schnyder type", "crystalline stromal dystrophy", "hereditary crystalline stromal dystrophy of Schnyder"], "xref": ["DOID:0060456", "GARD:0009277", "MEDGEN:124391", "MESH:C535475", "OMIM:121800", "Orphanet:98967", "SCTID:419395007", "UMLS:C0271287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007375", "name": "Epithelial basement membrane dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cogan corneal dystrophy", "Cogan microcystic epithelial dystrophy", "EBMD", "Map-dot-fingerprint dystrophy", "anterior basement membrane dystrophy"], "xref": ["DOID:0060447", "GARD:0009732", "MEDGEN:99275", "MESH:C535477", "OMIM:121820", "Orphanet:98956", "SCTID:373426005", "UMLS:C0521723"]}
{"category": ["biolink:Disease"], "description": "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.", "id": "MONDO:0007376", "name": "Fleck corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FCD", "FranC'ois-Neetens speckled corneal dystrophy", "François-Neetens speckled corneal dystrophy", "corneal fleck dystrophy", "fleck corneal dystrophy"], "xref": ["DOID:0060448", "GARD:0016879", "ICD9:371.56", "MEDGEN:287065", "MESH:C563256", "OMIM:121850", "Orphanet:98970", "SCTID:417183007", "UMLS:C1562113", "icd11.foundation:607143324"]}
{"category": ["biolink:Disease"], "description": "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.", "id": "MONDO:0007377", "name": "Granular corneal dystrophy type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GCD1", "GCDI", "classic GCD", "classic granular corneal dystrophy", "corneal dystrophy Groenouw type I", "granular corneal dystrophy type 1"], "xref": ["DOID:0080530", "GARD:0009677", "MEDGEN:351521", "MESH:C537304", "OMIM:121900", "Orphanet:98962", "SCTID:419039007", "UMLS:C1641846"]}
{"category": ["biolink:Disease"], "description": "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.", "id": "MONDO:0007378", "name": "Posterior polymorphous corneal dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Maumenee corneal dystrophy", "PPCD1", "Ppcd1", "corneal dystrophy, posterior polymorphous, type 1", "posterior polymorphous corneal dystrophy type 1"], "xref": ["DOID:0110855", "GARD:0018212", "ICD9:371.58", "MEDGEN:343836", "OMIM:122000", "SCTID:29504002", "UMLS:C1852555"]}
{"category": ["biolink:Disease"], "description": "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.", "id": "MONDO:0007379", "name": "Meesmann corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MECD", "Meesmann corneal dystrophy", "juvenile epithelial of Meesmann corneal dystrophy", "juvenile hereditary epithelial dystrophy of Meesmann"], "xref": ["DOID:0060451", "GARD:0009688", "ICD9:371.51", "MEDGEN:83283", "MESH:D053559", "NCIT:C84795", "OMIMPS:122100", "Orphanet:98954", "SCTID:1674008", "UMLS:C0339277"]}
{"category": ["biolink:Disease"], "description": "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.", "id": "MONDO:0007380", "name": "Lattice corneal dystrophy type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Biber-Haab-Dimmer dystrophy", "LCD1", "LCDI", "Lcd1", "classic lattice corneal dystrophy", "lattice corneal dystrophy type 1"], "xref": ["GARD:0009678", "MEDGEN:305533", "MESH:C537881", "OMIM:122200", "Orphanet:98964", "SCTID:419197009", "UMLS:C1690006"]}
{"category": ["biolink:Disease"], "description": "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.", "id": "MONDO:0007381", "name": "Epithelial recurrent erosion dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERED", "dystrophia Helsinglandica", "dystrophia Smolandiensis", "epithelial recurrent erosion dystrophy", "recurrent hereditary corneal erosions"], "xref": ["DOID:0070337", "GARD:0017338", "MEDGEN:342263", "MESH:C565155", "OMIM:122400", "Orphanet:293381", "SCTID:715908008", "UMLS:C1852551", "icd11.foundation:1105690299"]}
{"category": ["biolink:Disease"], "description": "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.", "id": "MONDO:0007382", "name": "Ramos-arroyo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ramos-Arroyo syndrome", "corneal anesthesia-deafness-intellectual disability syndrome"], "xref": ["GARD:0004636", "MEDGEN:418932", "MESH:C535286", "OMIM:122430", "Orphanet:1051", "UMLS:C2930866"]}
{"category": ["biolink:Disease"], "description": "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.", "id": "MONDO:0007383", "name": "Stern-lubinsky-durrie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["corneo-dermato-osseous syndrome"], "xref": ["GARD:0001531", "MEDGEN:342260", "MESH:C537488", "OMIM:122440", "Orphanet:3194", "SCTID:723584003", "UMLS:C1852542", "icd11.foundation:1754695879"]}
{"category": ["biolink:Disease"], "description": "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).", "id": "MONDO:0007384", "name": "Congenital trigeminal anesthesia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010034", "MEDGEN:342259", "MESH:C536440", "OMIM:122450", "Orphanet:231013", "SCTID:763218005", "UMLS:C1852541"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007385", "name": "Idiopathic spontaneous coronary artery dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic SCAD"], "xref": ["GARD:0010822", "MEDGEN:377701", "MESH:C565153", "OMIM:122455", "Orphanet:458718", "UMLS:C1852540"]}
{"category": ["biolink:Disease"], "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.", "id": "MONDO:0007387", "name": "Cornelia de lange syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cornelia De Lange syndrome type 1", "Cornelia de Lange syndrome 1", "Cornelia de Lange syndrome caused by mutation in NIPBL", "NIPBL Cornelia de Lange syndrome"], "xref": ["DOID:0080505", "GARD:0024555", "ICD9:759.89", "MEDGEN:1645760", "OMIM:122470", "SCTID:40354009", "UMLS:C4551851"]}
{"category": ["biolink:Disease"], "description": "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.", "id": "MONDO:0007388", "name": "Congenitally short costocoracoid ligament", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001551", "MEDGEN:342257", "MESH:C536448", "OMIM:122580", "Orphanet:2391", "SCTID:725101002", "UMLS:C1852523"]}
{"category": ["biolink:Disease"], "description": "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.", "id": "MONDO:0007389", "name": "Spondylocostal dysostosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCDO5", "TBX6 spondylocostal dysostosis", "costovertebral segmentation anomalies", "scoliosis, congenital, with or without rib anomalies", "spondylocostal dysostosis 5", "spondylocostal dysostosis caused by mutation in TBX6", "spondylocostal dysostosis type 5", "spondylothoracic dysostosis"], "xref": ["DOID:0112363", "GARD:0024556", "MEDGEN:901825", "NORD:1915", "OMIM:122600", "UMLS:C4083048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007390", "name": "Coumarin resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["coumarin resistance"], "xref": ["DOID:0080665", "MEDGEN:148193", "MESH:C563039", "OMIM:122700", "SCTID:726543008", "UMLS:C0750384"]}
{"category": ["biolink:Disease"], "description": "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.", "id": "MONDO:0007391", "name": "Coxa vara", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["coxa vara", "coxa vara (disease)"], "xref": ["EFO:1001298", "GARD:0008750", "HP:0002812", "MEDGEN:1790477", "MESH:D060905", "OMIM:122750", "UMLS:C5551440"]}
{"category": ["biolink:Disease"], "description": "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.", "id": "MONDO:0007392", "name": "Coxoauricular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coxoauricular syndrome"], "xref": ["GARD:0001558", "MEDGEN:343827", "MESH:C565148", "OMIM:122780", "Orphanet:1508", "SCTID:732248005", "UMLS:C1852513", "icd11.foundation:649449912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007393", "name": "Cranioacrofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cranioacrofacial syndrome"], "xref": ["MEDGEN:338947", "MESH:C565147", "OMIM:122850", "Orphanet:1339", "UMLS:C1852512"]}
{"category": ["biolink:Disease"], "description": "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.", "id": "MONDO:0007395", "name": "Craniofacial-deafness-hand syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDHS", "Sommer-Young-Wee-Frye syndrome", "craniofacial-deafness-hand syndrome"], "xref": ["DOID:0111336", "GARD:0001571", "ICD9:759.89", "MEDGEN:377694", "MESH:C536453", "OMIM:122880", "Orphanet:1529", "SCTID:702362004", "UMLS:C1852510", "icd11.foundation:1355682887"]}
{"category": ["biolink:Disease"], "description": "Stanescu type dysostosis is a rare form of osteosclerosis.", "id": "MONDO:0007396", "name": "Dysostosis, stanescu type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stanescu osteosclerosis", "autosomal dominant osteosclerosis, Stanescu type", "craniofacial dysostosis-diaphyseal hyperplasia syndrome"], "xref": ["GARD:0002016", "MEDGEN:140931", "MESH:C562974", "OMIM:122900", "Orphanet:1798", "SCTID:254124008", "UMLS:C0432263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007397", "name": "Craniometaphyseal dysplasia, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["craniometaphyseal dysplasia, autosomal dominant"], "xref": ["DOID:0080801", "GARD:0001581", "MEDGEN:338945", "MESH:C565145", "OMIM:123000", "UMLS:C1852502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007398", "name": "Craniorhiny", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["craniorhiny"], "xref": ["GARD:0016984", "MEDGEN:338944", "MESH:C565144", "OMIM:123050", "Orphanet:157832", "UMLS:C1852501", "icd11.foundation:853619848"]}
{"category": ["biolink:Disease"], "description": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.", "id": "MONDO:0007399", "name": "Twist1-related craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Primary Craniosynostosis", "TWIST1-related craniosynostosis", "craniosynostosis 1", "craniosynostosis type 1"], "xref": ["DOID:0061010", "GARD:0018045", "MEDGEN:1646646", "NORD:1606", "OMIM:123100", "SCTID:57219006", "UMLS:C4551902"]}
{"category": ["biolink:Disease"], "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.", "id": "MONDO:0007400", "name": "Jackson-weiss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JWS", "Jackson-Weiss syndrome", "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"], "xref": ["DOID:0111337", "GARD:0006796", "ICD9:759.89", "MEDGEN:208653", "MESH:C537559", "NCIT:C123814", "NORD:1306", "OMIM:123150", "Orphanet:1540", "SCTID:709105005", "UMLS:C0795998"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.", "id": "MONDO:0007401", "name": "Craniosynostosis-dandy-walker malformation-hydrocephalus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Braddock-Jones-Superneau syndrome", "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"], "xref": ["GARD:0000998", "MEDGEN:325006", "MESH:C563973", "OMIM:123155", "Orphanet:1538", "SCTID:720813007", "UMLS:C1838347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007402", "name": "Creatine phosphokinase, elevated serum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CPK, elevated serum", "cramps, familial adolescent", "creatine phosphokinase, elevated serum", "hyperCKemia, idiopathic"], "xref": ["MEDGEN:1651776", "OMIM:123320", "OMIM:218050", "UMLS:C4724975"]}
{"category": ["biolink:Disease"], "description": "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.", "id": "MONDO:0007403", "name": "Inherited creutzfeldt-jakob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Creutzfeldt-Jakob disease, variant, resistance to", "hereditary Creutzfeldt Jacob disease", "inherited CJD"], "xref": ["GARD:0017307", "MEDGEN:155837", "NANDO:1200189", "OMIM:123400", "Orphanet:282166", "SCTID:715807002", "UMLS:C0751254", "icd11.foundation:607607042"]}
{"category": ["biolink:Disease"], "description": "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.", "id": "MONDO:0007404", "name": "Cri-du-chat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["5p deletion syndrome", "5p partial monosomy syndrome", "Cat-Cry syndrome", "Cri du Chat Syndrome", "Cri du chat syndrome", "Cri-du-chat syndrome", "chromosome 5p deletion syndrome", "deletion 5p", "monosomy type 5p"], "xref": ["DECIPHER:2", "DOID:12580", "GARD:0006213", "ICD9:758.31", "ICD9:758.39", "MEDGEN:41345", "MESH:D003410", "MedDRA:10011385", "NANDO:1200684", "NANDO:2200961", "NCIT:C34518", "NORD:1015", "OMIM:123450", "Orphanet:281", "SCTID:70173007", "UMLS:C0010314", "icd11.foundation:620584190"]}
{"category": ["biolink:Disease"], "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia.", "id": "MONDO:0007405", "name": "Crouzon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Crouzon craniofacial dysostosis", "Crouzon syndrome", "craniofacial dysostosis"], "xref": ["DOID:2339", "GARD:0006206", "MEDGEN:1162", "MESH:D003394", "NANDO:1200666", "NANDO:2200845", "NCIT:C84653", "NORD:1018", "OMIM:123500", "Orphanet:207", "SCTID:28861008", "UMLS:C0010273", "icd11.foundation:1535725821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007406", "name": "Cryofibrinogenemia, familial primary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cryofibrinogenemia, familial primary"], "xref": ["MEDGEN:377679", "MESH:C565142", "OMIM:123540", "UMLS:C1852457"]}
{"category": ["biolink:Disease"], "description": "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.", "id": "MONDO:0007407", "name": "Cryoglobulinemic vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MC", "Mixed Cryoglobulinemia", "essential cryoglobulinemia", "essential mixed cryoglobulinemia", "mixed cryoglobulinemia", "primary cryoglobulinemia"], "xref": ["GARD:0006386", "ICD9:273.2", "MEDGEN:343814", "MESH:C565141", "MedDRA:10027756", "NORD:1452", "OMIM:123550", "Orphanet:91138", "SCTID:190815001", "UMLS:C1852456", "icd11.foundation:55133785"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007408", "name": "Cryptotia, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cryptotia, familial"], "xref": ["MEDGEN:342243", "MESH:C565140", "OMIM:123557", "UMLS:C1852455"]}
{"category": ["biolink:Disease"], "description": "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0007409", "name": "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cryptomicrotia-brachydactyly syndrome", "Tonoki-Ohura-Niikawa syndrome"], "xref": ["GARD:0008174", "MEDGEN:377678", "MESH:C536219", "OMIM:123560", "Orphanet:1547", "SCTID:725096002", "UMLS:C1852454"]}
{"category": ["biolink:Disease"], "description": "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.", "id": "MONDO:0007410", "name": "Isolated cryptophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nonsyndromic cryptophthalmia"], "xref": ["DOID:0111717", "GARD:0016797", "MEDGEN:342242", "MESH:C565138", "OMIM:123570", "Orphanet:91396", "SCTID:718691008", "UMLS:C1852453"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.", "id": "MONDO:0007411", "name": "Cutis laxa, autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADCL1", "ELN autosomal dominant cutis laxa", "autosomal dominant cutis laxa caused by mutation in ELN", "cutis laxa, autosomal dominant 1", "cutis laxa, autosomal dominant type 1"], "xref": ["DOID:0070130", "GARD:0015055", "MEDGEN:478169", "OMIM:123700", "UMLS:C3276539"]}
{"category": ["biolink:Disease"], "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.", "id": "MONDO:0007412", "name": "Beare-stevenson cutis gyrata syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beare-Stevenson cutis gyrata syndrome"], "xref": ["DOID:0050660", "GARD:0000332", "ICD9:759.89", "MEDGEN:377668", "MESH:C565129", "NCIT:C123813", "OMIM:123790", "Orphanet:1555", "SCTID:703528008", "UMLS:C1852406", "icd11.foundation:947865461"]}
{"category": ["biolink:Disease"], "description": "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.", "id": "MONDO:0007413", "name": "Cyprus facial-neuromusculoskeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009487", "MEDGEN:343800", "MESH:C536229", "OMIM:123853", "Orphanet:2674", "SCTID:732261005", "UMLS:C1852396"]}
{"category": ["biolink:Disease"], "description": "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.", "id": "MONDO:0007414", "name": "Gorham-stout disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gorham disease", "Gorham syndrome", "Gorham-Stout disease", "idiopathic massive osteolysis", "progressive massive osteolysis", "vanishing bone disease"], "xref": ["GARD:0006542", "ICD9:733.99", "MEDGEN:45248", "MedDRA:10071283", "NANDO:1200878", "NANDO:1200880", "NORD:1200", "OMIM:123880", "Orphanet:73", "SCTID:1515008", "UMLS:C0029438", "icd11.foundation:1318015458"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.", "id": "MONDO:0007415", "name": "Mitochondrial complex iii deficiency nuclear type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCS1L mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in BCS1L"], "xref": ["DOID:0080111", "GARD:0015056", "MEDGEN:762097", "MESH:C565128", "OMIM:124000", "UMLS:C3541471"]}
{"category": ["biolink:Disease"], "description": "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.", "id": "MONDO:0007416", "name": "Balkan nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Balkan endemic nephropathy", "Chinese herb endemic nephropathy", "Danubian endemic familial nephropathy", "aristolochic acid nephropathy", "endemic nephropathy"], "xref": ["DOID:3052", "EFO:0007164", "GARD:0008576", "ICD10CM:N15.0", "ICD9:583.89", "MEDGEN:495", "MESH:D001449", "NCIT:C123025", "OMIM:124100", "SCTID:26121002", "UMLS:C0004698", "icd11.foundation:18497836"]}
{"category": ["biolink:Disease"], "description": "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.", "id": "MONDO:0007417", "name": "Darier disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Darier disease", "Darier's disease", "Darier-White disease", "Keratosis Follicularis", "keratosis follicularis"], "xref": ["DOID:2734", "GARD:0006243", "ICD9:757.39", "MEDGEN:5956", "MESH:D007644", "MedDRA:10023369", "NCIT:C84665", "NORD:1329", "OMIM:124200", "Orphanet:218", "SCTID:48611009", "UMLS:C0022595", "Wikipedia:Darier%27s_disease", "icd11.foundation:643994486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007418", "name": "Darwinian tubercle of pinna", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:merged_class", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Darwinian tubercle of pinna"], "xref": ["MEDGEN:343772", "OMIM:124300", "OMIM:124400", "UMLS:C1852294"]}
{"category": ["biolink:Disease"], "description": "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.", "id": "MONDO:0007420", "name": "Autosomal dominant deafness - onychodystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DDOD syndrome", "autosomal dominant deafness-onychodystrophy syndrome", "deafness-onychodystrophy syndrome, autosomal dominant"], "xref": ["DOID:0080720", "GARD:0004732", "MEDGEN:382676", "OMIM:124480", "Orphanet:79499", "UMLS:C2675730"]}
{"category": ["biolink:Disease"], "description": "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.", "id": "MONDO:0007421", "name": "Deafness-ear malformation-facial palsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sellars-Beighton syndrome"], "xref": ["GARD:0001684", "MEDGEN:338900", "MESH:C565123", "OMIM:124490", "Orphanet:3232", "SCTID:716243005", "UMLS:C1852292"]}
{"category": ["biolink:Disease"], "description": "A rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.", "id": "MONDO:0007422", "name": "Keratoderma hereditarium mutilans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KHM", "PPK mutilans and deafness", "VOWNKL", "Vohwinkel syndrome", "keratoderma hereditarium mutilans", "mutilating keratoderma", "mutilating keratoderma of Vohwinkel", "mutilating keratoderma plus deafness"], "xref": ["DOID:0111339", "GARD:0003092", "ICD9:757.39", "MEDGEN:78579", "MESH:C536457", "OMIM:124500", "Orphanet:494", "SCTID:24559001", "UMLS:C0265964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007423", "name": "Deafness, mid-tone neural", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, mid-tone neural"], "xref": ["MEDGEN:338897", "MESH:C565122", "OMIM:124700", "UMLS:C1852283"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.", "id": "MONDO:0007424", "name": "Autosomal dominant nonsyndromic hearing loss 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Konigsmark syndrome"], "xref": ["DOID:0110541", "GARD:0024557", "MEDGEN:343767", "MESH:C565121", "OMIM:124900", "UMLS:C1852282"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007425", "name": "Deafness, sensorineural, with peripheral neuropathy and arterial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, sensorineural, with peripheral neuropathy and arterial disease"], "xref": ["MEDGEN:343766", "MESH:C565120", "OMIM:124950", "UMLS:C1852280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007426", "name": "Deafness, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, unilateral"], "xref": ["MEDGEN:435850", "MESH:C567079", "OMIM:125000", "UMLS:C2607947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007427", "name": "Deafness with anhidrotic ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness with anhidrotic ectodermal dysplasia"], "xref": ["MEDGEN:342202", "MESH:C565119", "OMIM:125050", "UMLS:C1852279"]}
{"category": ["biolink:Disease"], "description": "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.", "id": "MONDO:0007428", "name": "Deafness-craniofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness-craniofacial syndrome"], "xref": ["GARD:0001686", "MEDGEN:342201", "MESH:C565118", "OMIM:125230", "Orphanet:3241", "SCTID:716245003", "UMLS:C1852278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007429", "name": "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["optic atrophy plus syndrome", "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"], "xref": ["GARD:0015057", "MEDGEN:478179", "OMIM:125250", "UMLS:C3276549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007430", "name": "Dens evaginatus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dens evaginatus"], "xref": ["MEDGEN:78585", "OMIM:125280", "SCTID:63691004", "UMLS:C0266034", "icd11.foundation:474468588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007431", "name": "Dens in dente and palatal invaginations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:377628", "MESH:C538211", "OMIM:125300", "UMLS:C1852250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007432", "name": "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["CADASIL", "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy", "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"], "xref": ["DOID:13945", "GARD:0024558", "ICD9:323.9", "ICD9:447.8", "MEDGEN:199687", "NANDO:1200545", "OMIMPS:125310", "UMLS:C0751587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007433", "name": "Dementia/parkinsonism with non-alzheimer amyloid plaques", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dementia/parkinsonism with non-Alzheimer amyloid plaques"], "xref": ["MEDGEN:338883", "MESH:C565115", "OMIM:125320", "UMLS:C1852223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007434", "name": "Primary failure of tooth eruption", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PFE", "primary retention of teeth"], "xref": ["DOID:0111341", "GARD:0017692", "MEDGEN:338882", "MESH:C565114", "OMIM:125350", "Orphanet:412206", "UMLS:C1852222"]}
{"category": ["biolink:Disease"], "description": "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.", "id": "MONDO:0007435", "name": "Dentatorubral-pallidoluysian atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DRPLA", "Dentatorubropallidoluysian atrophy", "Naito-Oyanagi disease", "dentatorubral-pallidoluysian atrophy", "haw River syndrome"], "xref": ["DOID:0060162", "GARD:0005643", "ICD9:333.99", "MEDGEN:155630", "NANDO:1200043", "NCIT:C122653", "OMIM:125370", "Orphanet:101", "SCTID:68116008", "UMLS:C0751781"]}
{"category": ["biolink:Disease"], "description": "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.", "id": "MONDO:0007436", "name": "Dentin dysplasia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DD-I", "DTDP1", "dentin dysplasia type I", "dentin dysplasia, type i, with microdontia and misshapen teeth", "radicular dentin dysplasia"], "xref": ["GARD:0001807", "ICD9:520.5", "MEDGEN:97996", "MESH:C531665", "MESH:C538215", "NORD:1041", "OMIMPS:125400", "Orphanet:99789", "SCTID:109493006", "UMLS:C0399379"]}
{"category": ["biolink:Disease"], "description": "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.", "id": "MONDO:0007437", "name": "Dentin dysplasia type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DD-II", "DTDP2"], "xref": ["GARD:0001806", "ICD9:520.5", "MEDGEN:96026", "OMIM:125420", "Orphanet:99791", "SCTID:109494000", "UMLS:C0399380"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.", "id": "MONDO:0007438", "name": "Dentin dysplasia-sclerotic bones syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001808", "MEDGEN:377618", "MESH:C538213", "OMIM:125440", "Orphanet:99792", "UMLS:C1852201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007439", "name": "Deoxyribose-5-phosphate aldolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deoxyribose-5-phosphate aldolase deficiency"], "xref": ["MEDGEN:377617", "MESH:C565112", "OMIM:125460", "UMLS:C1852200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007440", "name": "Major affective disorder 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD1", "major affective disorder 1"], "xref": ["DOID:0080220", "MEDGEN:377615", "MESH:C565111", "OMIM:125480", "UMLS:C1852197"]}
{"category": ["biolink:Disease"], "description": "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.", "id": "MONDO:0007441", "name": "Dentinogenesis imperfecta type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Capdepont teeth", "DGI-2", "DI-2", "dentinogenesis imperfecta type 1", "dentinogenesis imperfecta, Shields type 2", "dentinogenesis imperfecta, Shields type II"], "xref": ["GARD:0012796", "MEDGEN:424922", "OMIM:125490", "Orphanet:166260", "UMLS:C2973527", "icd11.foundation:314718507"]}
{"category": ["biolink:Disease"], "description": "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).", "id": "MONDO:0007442", "name": "Dentinogenesis imperfecta type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DGI-III", "Dentinogenesis Imperfecta Type III", "brandywine type dentinogenesis imperfecta", "dentinogenesis imperfecta Shields type 3", "dentinogenesis imperfecta type III", "dentinogenesis imperfecta, Shields type 3", "dentinogenesis imperfecta, Shields type III"], "xref": ["GARD:0010144", "ICD9:520.5", "MEDGEN:97995", "MESH:C538216", "NORD:1043", "OMIM:125500", "Orphanet:166265", "SCTID:234970006", "UMLS:C0399378", "icd11.foundation:518257495"]}
{"category": ["biolink:Disease"], "description": "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).", "id": "MONDO:0007443", "name": "Congenital unilateral hypoplasia of depressor anguli oris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated asymmetric crying facies"], "xref": ["GARD:0016557", "ICD9:759.89", "MEDGEN:140911", "OMIM:125520", "Orphanet:1166", "SCTID:51409009", "UMLS:C0431406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007444", "name": "Dermal ridges, patternless", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermal Ridges, patternless"], "xref": ["MEDGEN:343736", "MESH:C565109", "OMIM:125540", "UMLS:C1852160"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007445", "name": "Dermatopathia pigmentosa reticularis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dermatopathia pigmentosa reticularis"], "xref": ["DOID:0111342", "GARD:0008550", "MEDGEN:98037", "MESH:C535374", "OMIM:125595", "Orphanet:86920", "SCTID:239088003", "UMLS:C0406778"]}
{"category": ["biolink:Disease"], "description": "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.", "id": "MONDO:0007446", "name": "Dermatosis papulosa nigra", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dermatosis papulosa nigra", "dermatosis papulosa nigra (morphologic abnormality)"], "xref": ["DOID:4400", "EFO:1000686", "ICD9:709.8", "MEDGEN:4238", "MESH:C562379", "NCIT:C2984", "OMIM:125600", "SCTID:254669003", "UMLS:C0011645", "Wikipedia:Dermatosis_papulosa_nigra", "icd11.foundation:168986957"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.", "id": "MONDO:0007447", "name": "Autosomal dominant vibratory urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DDU", "VBU", "dermodistortive urticaria", "vibratory urticaria, autosomal dominant"], "xref": ["GARD:0009806", "ICD9:995.1", "MESH:C536347", "OMIM:125630", "OMIM:193050", "Orphanet:493342", "SCTID:238694002"]}
{"category": ["biolink:Disease"], "description": "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own.", "id": "MONDO:0007448", "name": "Familial dermatographia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["dermatographic urticaria", "dermographism"], "xref": ["DOID:743", "EFO:1000685", "ICD10CM:L50.3", "ICD9:708.3", "MEDGEN:342170", "MESH:C536612", "OMIM:125635", "SCTID:7632005", "UMLS:C1852145"]}
{"category": ["biolink:Disease"], "description": "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.", "id": "MONDO:0007449", "name": "Dermo-odonto dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dermo-odonto dysplasia"], "xref": ["GARD:0001816", "MEDGEN:377602", "MESH:C565103", "OMIM:125640", "Orphanet:1660", "SCTID:721091003", "UMLS:C1852144"]}
{"category": ["biolink:Disease"], "description": "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.", "id": "MONDO:0007450", "name": "Neurohypophyseal diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ADH deficiency", "AVP deficiency", "Arginine vasopressin deficiency", "antidiuretic hormone deficiency", "diabetes insipidus of pituitary gland", "hereditary CDI", "hereditary neurogenic diabetes insipidus", "pituitary gland diabetes insipidus", "vasopressin deficiency"], "xref": ["DOID:12388", "GARD:0016629", "MEDGEN:574999", "NANDO:2201050", "NCIT:C84933", "OMIM:125700", "Orphanet:30925", "SCTID:45369008", "UMLS:C0342394", "icd11.foundation:97299603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007451", "name": "Diabetes insipidus, nephrogenic, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["diabetes insipidus, nephrogenic, 2", "diabetes insipidus, nephrogenic, autosomal"], "xref": ["DOID:0081061", "GARD:0015058", "MEDGEN:289643", "OMIM:125800", "UMLS:C1563706"]}
{"category": ["biolink:Disease"], "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.", "id": "MONDO:0007452", "name": "Maturity-onset diabetes of the young type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HNF4A-associated monogenic diabetes", "MODY, type I", "MODY1", "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes", "maturity onset diabetes of the Young, type 1", "mild juvenile diabetes mellitus"], "xref": ["DOID:0111099", "GARD:0003418", "MEDGEN:377589", "MESH:C565101", "NANDO:2200461", "NANDO:2201069", "NCIT:C129744", "OMIM:125850", "SCTID:609562003", "UMLS:C1852093"]}
{"category": ["biolink:Disease"], "description": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.", "id": "MONDO:0007453", "name": "Maturity-onset diabetes of the young type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GCK maturity-onset diabetes of the young (disease)", "GCK-associated diabetes mellitus", "MODY 2 monogenic diabetes type 2", "MODY, type II", "MODY2", "glucokinase-associated diabetes mellitus", "maturity onset diabetes of the Young, type 2", "maturity-onset diabetes of the young (disease) caused by mutation in GCK"], "xref": ["DOID:0111100", "GARD:0010657", "MEDGEN:87434", "NANDO:2201070", "NCIT:C129741", "OMIM:125851", "SCTID:237604008", "UMLS:C0342277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007456", "name": "Diarrhea, glucose-stimulated secretory, with common variable immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diarrhea, glucose-stimulated secretory, with common variable immunodeficiency"], "xref": ["MEDGEN:377585", "MESH:C565099", "OMIM:125890", "UMLS:C1852087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007457", "name": "Diastema, dental medial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diastema, dental medial"], "xref": ["MEDGEN:342157", "MESH:C565098", "OMIM:125900", "UMLS:C1852086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007458", "name": "Digitotalar dysmorphism; ulnar drift, hereditary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0015059", "MEDGEN:342156", "OMIM:126050", "UMLS:C1852085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007459", "name": "Dilution, pigmentary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dilution, pigmentary"], "xref": ["GARD:0006731", "MEDGEN:406294", "MESH:C566872", "OMIM:126070", "SCTID:23006000", "UMLS:C1876214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007460", "name": "Discrimination, two-point, reduction 1n", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["discrimination, Two-point, reduction type 1N"], "xref": ["MEDGEN:343713", "OMIM:126180", "UMLS:C1852074"]}
{"category": ["biolink:Disease"], "description": "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.", "id": "MONDO:0007461", "name": "Short stature-valvular heart disease-characteristic facies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016612", "MEDGEN:338866", "MESH:C565094", "OMIM:126190", "Orphanet:2868", "UMLS:C1852073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007463", "name": "Distal osteosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["distal osteosclerosis"], "xref": ["MEDGEN:338863", "MESH:C565093", "OMIM:126250", "UMLS:C1852063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007465", "name": "Distichiasis with congenital anomalies of the heart and peripheral vasculature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["distichiasis with congenital anomalies of the heart and peripheral vasculature", "distichiasis-congenital heart defects-peripheral vascular anomalies syndrome"], "xref": ["MEDGEN:338862", "MESH:C565092", "OMIM:126320", "Orphanet:1683", "UMLS:C1852062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007466", "name": "Dna, satellite, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["DNA, satellite, type 3"], "xref": ["OMIM:126370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007467", "name": "Dna, low-repetitive sequences of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DNA, low-repetitive sequences of"], "xref": ["MEDGEN:342148", "OMIM:126390", "UMLS:C1852041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007469", "name": "Double nail for fifth toe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["double nail for fifth toe"], "xref": ["MEDGEN:343705", "MESH:C565090", "OMIM:126500", "UMLS:C1852023"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.", "id": "MONDO:0007470", "name": "Calvarial doughnut lesions-bone fragility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia", "familial doughnut lesions of skull"], "xref": ["DOID:0080721", "GARD:0016739", "MEDGEN:377572", "MESH:C565089", "OMIM:126550", "Orphanet:85192", "SCTID:720598005", "UMLS:C1852022"]}
{"category": ["biolink:Disease"], "description": "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.", "id": "MONDO:0007471", "name": "Doyne honeycomb retinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DHRD", "Doyne honeycomb degeneration of retina", "Doyne honeycomb retinal dystrophy", "Malattia leventinese", "dominant drusen", "dominant radial drusen"], "xref": ["DOID:0060745", "GARD:0001912", "MEDGEN:321900", "OMIM:126600", "Orphanet:75376", "SCTID:193411004", "UMLS:C1832174"]}
{"category": ["biolink:Disease"], "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.", "id": "MONDO:0007472", "name": "Basal laminar drusen", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basal laminar drusen", "drusen of Bruch membrane"], "xref": ["DOID:0060746", "GARD:0015060", "MEDGEN:152676", "MESH:C563034", "OMIM:126700", "UMLS:C0730295"]}
{"category": ["biolink:Disease"], "description": "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.", "id": "MONDO:0007473", "name": "Duane retraction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["DRS", "DURS", "Duane retraction syndrome", "Duane syndrome", "Duane's syndrome", "Stilling-Turk-Duane syndrome"], "xref": ["DOID:12557", "GARD:0006288", "ICD10CM:H50.81", "ICD9:378.71", "MEDGEN:4413", "MESH:D004370", "MedDRA:10013799", "NCIT:C84678", "NORD:1062", "OMIMPS:126800", "Orphanet:233", "SCTID:60318001", "UMLS:C0013261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007474", "name": "Duodenal ulcer due to antral g-cell hyperfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["duodenal ulcer due to antral G-cell hyperfunction"], "xref": ["MEDGEN:338843", "MESH:C535721", "OMIM:126840", "UMLS:C1852009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007475", "name": "Duodenal ulcer, hyperpepsinogenemic 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["duodenal Ulcer, hyperpepsinogenemic type 1"], "xref": ["MEDGEN:343701", "MESH:C565086", "OMIM:126850", "UMLS:C1852008"]}
{"category": ["biolink:Disease"], "description": "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).", "id": "MONDO:0007476", "name": "Familial dupuytren contracture", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:41672", "OMIM:126900", "Orphanet:79142", "SCTID:274142002", "UMLS:C0013312"]}
{"category": ["biolink:Disease"], "description": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.", "id": "MONDO:0007477", "name": "3-m syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["3-M syndrome", "Three M Syndrome", "three M syndrome"], "xref": ["DOID:0060241", "GARD:0005667", "ICD9:756.59", "MEDGEN:336440", "MESH:C535314", "NORD:1767", "OMIMPS:273750", "Orphanet:2616", "SCTID:702342007", "UMLS:C1848862"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.", "id": "MONDO:0007478", "name": "Autosomal dominant kenny-caffey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["KCS2", "Kenny-Caffey syndrome type 2", "Kenny-Caffey syndrome, autosomal dominant", "Kenny-Caffey syndrome, type 2", "dwarfism, cortical thickening of tubular bones and transient hypocalcemia"], "xref": ["DOID:0080723", "GARD:0000083", "MEDGEN:1373312", "NCIT:C130993", "OMIM:127000", "Orphanet:93325", "UMLS:C4316787"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007479", "name": "Dwarfism, levi type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism, Levi type"], "xref": ["MEDGEN:338837", "MESH:C565081", "OMIM:127100", "UMLS:C1851994"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007480", "name": "Dwarfism with stiff joints and ocular abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism with stiff joints and ocular abnormalities"], "xref": ["ICD9:759.89", "MEDGEN:82709", "MESH:C535724", "OMIM:127200", "Orphanet:2569", "SCTID:72913007", "UMLS:C0265349"]}
{"category": ["biolink:Disease"], "description": "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.", "id": "MONDO:0007481", "name": "Leri-weill dyschondrosteosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LWD", "Leri Weill dyschondrosteosis", "Leri-Weill dyschondrosteosis", "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant", "Leri-Weill dyschondrostosis", "Leri-Weill syndrome", "Léri-Weill dyschondrosteosis", "Léri-Weill syndrome"], "xref": ["DECIPHER:58", "DOID:0060847", "GARD:0003224", "ICD9:756.59", "MEDGEN:75562", "NCIT:C126560", "NORD:1070", "OMIM:127300", "Orphanet:240", "SCTID:17818006", "UMLS:C0265309"]}
{"category": ["biolink:Disease"], "description": "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.", "id": "MONDO:0007482", "name": "Dyschondrosteosis-nephritis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001994", "MEDGEN:342135", "MESH:C565080", "OMIM:127350", "Orphanet:1765", "UMLS:C1851986"]}
{"category": ["biolink:Disease"], "description": "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.", "id": "MONDO:0007483", "name": "Dyschromatosis symmetrica hereditaria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSH1", "RAD", "acropigmentation of Dohi", "dyschromatosis symmetrica hereditaria", "reticulate acropigmentation of Dohi"], "xref": ["DOID:0060257", "GARD:0000334", "MEDGEN:96071", "MESH:C535729", "NCIT:C118435", "OMIM:127400", "Orphanet:41", "SCTID:239085000", "UMLS:C0406775"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.", "id": "MONDO:0007485", "name": "Dyskeratosis congenita, autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:prototype_pattern", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCA1", "dyskeratosis congenita, Scoggins type", "dyskeratosis congenita, autosomal dominant 1", "dyskeratosis congenita, autosomal dominant type 1"], "xref": ["DOID:0070014", "GARD:0006299", "MEDGEN:1645250", "MESH:C565079", "NCIT:C176921", "OMIM:127550", "SCTID:707273001", "UMLS:C4551974"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.", "id": "MONDO:0007486", "name": "Hereditary benign intraepithelial dyskeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HBID", "Witkop-Von Sallmann disease", "hereditary benign corneal intraepithelial dyskeratosis"], "xref": ["GARD:0017524", "MEDGEN:75588", "MESH:C562551", "NCIT:C3940", "OMIM:127600", "Orphanet:352657", "SCTID:400014002", "UMLS:C0265966", "icd11.foundation:2059594980"]}
{"category": ["biolink:Disease"], "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.", "id": "MONDO:0007488", "name": "Lewy body dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["DLB", "Lewy body dementia", "Lewy body disease", "cortical Lewy body disease", "dementia with Lewy bodies", "lewy body dementia, susceptibility to"], "xref": ["DOID:12217", "EFO:0006792", "ICD10CM:G31.83", "ICD9:331.82", "MEDGEN:199874", "NCIT:C84826", "OMIM:127750", "Orphanet:1648", "SCTID:312991009", "UMLS:C0752347"]}
{"category": ["biolink:Disease"], "description": "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.", "id": "MONDO:0007489", "name": "Dysplasia epiphysealis hemimelica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Trevor disease", "dysplasia epiphysealis hemimelica"], "xref": ["GARD:0002019", "ICD9:756.59", "MEDGEN:96591", "MESH:C537997", "NORD:1072", "OMIM:127800", "Orphanet:1822", "SCTID:205480005", "UMLS:C0432282", "icd11.foundation:1995096940"]}
{"category": ["biolink:Disease"], "description": "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.", "id": "MONDO:0007490", "name": "Carpotarsal osteochondromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Maroteaux-Le Merrer-Bensahel syndrome"], "xref": ["GARD:0001128", "MEDGEN:377557", "MESH:C565076", "OMIM:127820", "Orphanet:2767", "SCTID:389272007", "UMLS:C1851956", "icd11.foundation:1406756925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007491", "name": "Dystelephalangy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dystelephalangy"], "xref": ["MEDGEN:343690", "MESH:C538000", "OMIM:128000", "UMLS:C1851955"]}
{"category": ["biolink:Disease"], "description": "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.", "id": "MONDO:0007492", "name": "Early-onset generalized limb-onset dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-TOR1A", "DYT1", "EOTD", "Oppenheim dystonia", "Oppenheim's dystonia", "dystonia musculorum deformans", "dystonia-1, torsion", "early onset primary dystonia", "early onset torsion dystonia", "early-onset generalised torsion dystonia", "early-onset generalized limb-onset dystonia", "early-onset generalized torsion dystonia", "early-onset primary dystonia", "early-onset torsion dystonia", "idiopathic dystonia", "torsion dystonia type 1"], "xref": ["DOID:0060730", "GARD:0002027", "MEDGEN:338823", "MESH:C538005", "NANDO:1200512", "NANDO:2100240", "NANDO:2200884", "NCIT:C116718", "OMIM:128100", "Orphanet:256", "UMLS:C1851945"]}
{"category": ["biolink:Disease"], "description": "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).", "id": "MONDO:0007493", "name": "Torsion dystonia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT4", "hereditary whispering dysphonia", "torsion dystonia type 4", "whispering dysphonia"], "xref": ["DOID:0090041", "GARD:0010138", "MEDGEN:342124", "NANDO:1200515", "OMIM:128101", "Orphanet:98805", "SCTID:719276005", "UMLS:C1851943"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.", "id": "MONDO:0007495", "name": "Dystonia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-GCH1", "Dopa-responsive dystonia, autosomal dominant", "GTP cyclohydrolase 1-deficient dopa-responsive dystonia", "Segawa Syndrome", "Segawa syndrome, autosomal dominant", "dystonia 5", "dystonia type 5", "dystonia, DOPA-responsive, with or without hyperphenylalaninemia", "dystonia, Dopa-responsive, autosomal dominant", "dystonia, progressive, with diurnal variation", "dystonia-Parkinsonism with diurnal fluctuation"], "xref": ["DOID:0090043", "GARD:0009817", "MEDGEN:342121", "NANDO:1200516", "NORD:1702", "OMIM:128230", "SCTID:715768000", "UMLS:C1851920"]}
{"category": ["biolink:Disease"], "description": "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.", "id": "MONDO:0007496", "name": "Dystonia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP1A3 dystonic disorder", "DYT-ATP1A3", "DYT12", "dystonia 12", "dystonia type 12", "dystonia-12", "dystonic disorder caused by mutation in ATP1A3"], "xref": ["DOID:0090056", "GARD:0009628", "MEDGEN:358384", "MESH:C538001", "NANDO:1200523", "NANDO:1200524", "NCIT:C157577", "OMIM:128235", "Orphanet:71517", "SCTID:702323008", "UMLS:C1868681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007497", "name": "Ear antitragus, tag at base of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ear antitragus, tag at base of"], "xref": ["MEDGEN:343680", "OMIM:128290", "UMLS:C1851905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007498", "name": "Ear exostoses", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ear exostoses"], "xref": ["MEDGEN:56363", "OMIM:128300", "UMLS:C0155411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007499", "name": "Ear folding", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ear folding"], "xref": ["MEDGEN:377546", "OMIM:128500", "UMLS:C1851901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007500", "name": "Ear malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ear malformation"], "xref": ["ICD9:744.29", "ICD9:744.3", "MEDGEN:75618", "OMIM:128600", "SCTID:275259005", "UMLS:C0266589"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by malformations of the external ear, which is caused by the first and second branchial arch dysplasia or the first branchial groove insufficiency in the embryonic stage.", "id": "MONDO:0007501", "name": "Preauricular fistulae, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["preauricular fistulae, congenital"], "xref": ["MEDGEN:154283", "MESH:C563015", "OMIM:128700", "UMLS:C0546969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007502", "name": "Ear pits, posterior helical", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ear pits, posterior helical"], "xref": ["MEDGEN:342119", "OMIM:128710", "UMLS:C1851900"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007503", "name": "Ear without helix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ear without helix"], "xref": ["GARD:0024559", "MEDGEN:343678", "OMIM:128800", "UMLS:C1851899"]}
{"category": ["biolink:Disease"], "description": "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.", "id": "MONDO:0007504", "name": "Thickened earlobes-conductive deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Escher-Hirt syndrome"], "xref": ["GARD:0002195", "MEDGEN:343676", "OMIM:128980", "Orphanet:2405", "SCTID:722476007", "UMLS:C1851896"]}
{"category": ["biolink:Disease"], "description": "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.", "id": "MONDO:0007507", "name": "Absence of fingerprints-congenital milia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baird syndrome", "absence of dermatoglyphics-congenital milia syndrome"], "xref": ["DOID:0080725", "GARD:0002336", "MEDGEN:140808", "MESH:C537659", "OMIM:129200", "Orphanet:1658", "SCTID:239011004", "UMLS:C0406707", "icd11.foundation:1298640608"]}
{"category": ["biolink:Disease"], "description": "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.", "id": "MONDO:0007508", "name": "Rapp-hodgkin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:speculative"], "synonym": ["Rapp-Hodgkin syndrome"], "xref": ["DOID:0060330", "GARD:0005690", "MEDGEN:315656", "MESH:C535289", "OMIM:129400", "Orphanet:3022", "SCTID:7731005", "UMLS:C1785148", "icd11.foundation:1455333054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007509", "name": "Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"], "xref": ["DOID:0111663", "GARD:0018591", "MEDGEN:854747", "OMIM:129490", "UMLS:C3888065"]}
{"category": ["biolink:Disease"], "description": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.", "id": "MONDO:0007510", "name": "Clouston syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:do_inheritance_inconsistent", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Clouston syndrome", "hidrotic ectodermal dysplasia"], "xref": ["DOID:14693", "GARD:0002056", "MEDGEN:56416", "OMIM:129500", "Orphanet:189", "SCTID:54209007", "UMLS:C0162361"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.", "id": "MONDO:0007511", "name": "Ectodermal dysplasia, trichoodontoonychial type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia, trichoodontoonychial type"], "xref": ["GARD:0002055", "MEDGEN:338798", "MESH:C565068", "OMIM:129510", "Orphanet:1818", "SCTID:734018003", "UMLS:C1851858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007512", "name": "Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet"], "xref": ["MEDGEN:342107", "MESH:C565067", "OMIM:129540", "UMLS:C1851851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007513", "name": "Ectodermal dysplasia with adrenal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome", "ectodermal dysplasia with adrenal cyst"], "xref": ["MEDGEN:342106", "MESH:C538015", "OMIM:129550", "Orphanet:3391", "UMLS:C1851850"]}
{"category": ["biolink:Disease"], "description": "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.", "id": "MONDO:0007514", "name": "Ectopia lentis 1, isolated, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ECTOL1", "FBN1 isolated ectopia lentis", "ectopia lentis 1, isolated, autosomal dominant", "ectopia lentis, familial", "isolated ectopia lentis caused by mutation in FBN1"], "xref": ["DOID:0111150", "GARD:0015062", "MEDGEN:762106", "OMIM:129600", "UMLS:C3541518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007515", "name": "Ectopia pupillae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectopia pupillae", "ectopia pupillae (disease)"], "xref": ["HP:0009918", "MEDGEN:224790", "MESH:C536185", "OMIM:129750", "SCTID:193523008", "UMLS:C1271219", "icd11.foundation:70138444"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007516", "name": "Ectrodactyly and ectodermal dysplasia without cleft lip/palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectrodactyly and ectodermal dysplasia without cleft lip/palate", "ectrodactyly-ectodermal dysplasia without clefting syndrome"], "xref": ["MEDGEN:377536", "MESH:C565065", "OMIM:129810", "Orphanet:1888", "UMLS:C1851849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007517", "name": "Ectrodactyly-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectrodactyly-cleft palate syndrome"], "xref": ["MEDGEN:342105", "MESH:C565064", "OMIM:129830", "Orphanet:1889", "UMLS:C1851848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007518", "name": "Edema, familial idiopathic, prepubertal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["edema, familial idiopathic, prepubertal"], "xref": ["MEDGEN:377535", "MESH:C565063", "OMIM:129840", "UMLS:C1851847"]}
{"category": ["biolink:Disease"], "description": "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.", "id": "MONDO:0007519", "name": "Edinburgh malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Edinburgh malformation syndrome", "typus Edinburgensis"], "xref": ["GARD:0002074", "MEDGEN:167084", "MESH:C563051", "OMIM:129850", "Orphanet:1895", "UMLS:C0795933"]}
{"category": ["biolink:Disease"], "description": "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.", "id": "MONDO:0007520", "name": "Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EEC syndrome 1", "EEC syndrome-1", "EEC1", "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1"], "xref": ["DOID:0060784", "GARD:0015063", "MEDGEN:343663", "MESH:C565062", "OMIM:129900", "UMLS:C1851841"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.", "id": "MONDO:0007522", "name": "Ehlers-danlos syndrome, classic type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS, classic type", "Ehlers-Danlos syndrome classic type", "Ehlers-Danlos syndrome, classic type"], "xref": ["GARD:0002088", "MEDGEN:909864", "NANDO:1200646", "NANDO:2201256", "Orphanet:287", "SCTID:715318006", "UMLS:C4225429"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.", "id": "MONDO:0007523", "name": "Ehlers-danlos syndrome, hypermobility type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS III", "EDSHMB", "Ehlers-Danlos syndrome type 3", "Ehlers-Danlos syndrome type 3 (formerly)", "Ehlers-Danlos syndrome, hypermobile type", "Ehlers-Danlos syndrome, hypermobility type", "Ehlers-Danlos syndrome, type 3", "Ehlers-Danlos syndrome, type III", "HT-EDS"], "xref": ["DOID:14757", "GARD:0002081", "MEDGEN:75670", "MESH:C536196", "NANDO:1200647", "NANDO:2201257", "NCIT:C125698", "OMIM:130020", "Orphanet:285", "SCTID:30652003", "UMLS:C0268337"]}
{"category": ["biolink:Disease"], "description": "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.", "id": "MONDO:0007524", "name": "Autosomal dominant ehlers-danlos syndrome, vascular type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ehlers-Danlos syndrome, type IV, autosomal dominant", "Ehlers-Danlos syndrome, vascular type, autosomal dominant", "autosomal dominant Ehlers-Danlos syndrome, vascular type"], "xref": ["DOID:14756", "GARD:0024560", "MEDGEN:541286", "OMIM:130050", "UMLS:C0268339"]}
{"category": ["biolink:Disease"], "description": "An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.", "id": "MONDO:0007525", "name": "Ehlers-danlos syndrome, arthrochalasia type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS VII", "Ehlers-Danlos syndrome type 7", "Ehlers-Danlos syndrome, arthrochalasia type", "Ehlers-Danlos syndrome, type VII"], "xref": ["DOID:0080727", "GARD:0002084", "MEDGEN:1645042", "MESH:C562625", "NANDO:1200650", "NANDO:2201260", "NCIT:C125701", "Orphanet:1899", "SCTID:4170004", "UMLS:C4551623"]}
{"category": ["biolink:Disease"], "description": "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.", "id": "MONDO:0007526", "name": "Ehlers-danlos syndrome, spondylodysplastic type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["B4GALT7-CDG", "EDS, progeroid type", "PDS", "defective biosynthesis of proteodermatan sulfate", "defective biosynthesis of proteodermatan sulphate", "galactosyltransferase I deficiency"], "xref": ["DOID:0050802", "GARD:0009991", "MESH:C536201", "Orphanet:75496", "SCTID:720861000"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.", "id": "MONDO:0007527", "name": "Ehlers-danlos syndrome, periodontitis type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS VIII", "Ehlers-Danlos syndrome type 8", "Ehlers-Danlos syndrome, periodontitis type"], "xref": ["GARD:0012474", "MEDGEN:82791", "MESH:C562626", "Orphanet:75392", "SCTID:50869007", "UMLS:C0268347", "icd11.foundation:893527307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007528", "name": "Ehlers-danlos syndrome, autosomal dominant, type unspecified", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ehlers-Danlos syndrome, autosomal dominant, type unspecified"], "xref": ["GARD:0024561", "MEDGEN:65083", "MESH:C562424", "OMIM:130090", "UMLS:C0220679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007529", "name": "Elastosis perforans serpiginosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["elastosis perforans serpiginosa"], "xref": ["GARD:0010103", "ICD10CM:L87.2", "MEDGEN:65137", "MESH:C536202", "MedDRA:10014338", "OMIM:130100", "Orphanet:79148", "SCTID:49428008", "UMLS:C0221271", "icd11.foundation:1430012917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007530", "name": "Electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon"], "xref": ["MEDGEN:377516", "OMIM:130200", "UMLS:C1851757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007531", "name": "Electroencephalographic peculiarity: fronto-precentral beta wave groups", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["electroencephalographic peculiarity: fronto-precentral beta wave groups"], "xref": ["MEDGEN:343646", "OMIM:130300", "UMLS:C1851756"]}
{"category": ["biolink:Disease"], "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.", "id": "MONDO:0007533", "name": "Elliptocytosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPTA1 hereditary elliptocytosis", "elliptocytosis 2", "elliptocytosis type 2", "elliptocytosis-2", "hereditary elliptocytosis caused by mutation in SPTA1"], "xref": ["GARD:0015064", "MEDGEN:343643", "MESH:C565058", "OMIM:130600", "UMLS:C1851741"]}
{"category": ["biolink:Disease"], "description": "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.", "id": "MONDO:0007534", "name": "Beckwith-wiedemann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BWS", "Beckwith-Wiedemann syndrome", "Wiedemann-Beckwith syndrome", "exomphalos-macroglossia-gigantism syndrome"], "xref": ["DOID:5572", "GARD:0003343", "ICD9:759.89", "MEDGEN:2562", "MESH:D001506", "MedDRA:10050344", "NANDO:2200959", "NCIT:C34415", "NORD:845", "OMIM:130650", "Orphanet:116", "SCTID:81780002", "UMLS:C0004903", "icd11.foundation:803086260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007535", "name": "Emphysema, hereditary pulmonary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["emphysema, hereditary pulmonary"], "xref": ["MEDGEN:502241", "MESH:C565057", "OMIM:130700", "UMLS:C3501835"]}
{"category": ["biolink:Disease"], "description": "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.", "id": "MONDO:0007536", "name": "Congenital lobar emphysema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLE", "Emphysema, Congenital Lobar", "congenital lobar hyperinflation", "emphysema, congenital lobar", "infantile lobar hyperinflation"], "xref": ["GARD:0002104", "MEDGEN:120557", "MESH:C535735", "MedDRA:10010456", "NCIT:C98895", "NORD:1085", "OMIM:130710", "Orphanet:1928", "SCTID:66987001", "UMLS:C0265797", "icd11.foundation:685349915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007537", "name": "Lateral meningocele syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lehman syndrome", "lateral meningocele syndrome"], "xref": ["DOID:0111343", "GARD:0009873", "MEDGEN:342070", "MESH:C537878", "OMIM:130720", "Orphanet:2789", "UMLS:C1851710"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.", "id": "MONDO:0007538", "name": "Amelogenesis imperfecta, type 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ADHCAI", "AI3", "FAM83H amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in FAM83H", "amelogenesis imperfecta, type 3A"], "xref": ["DOID:0110055", "GARD:0024562", "MEDGEN:1854533", "MESH:C562880", "OMIM:130900", "SCTID:109471001", "UMLS:C5886770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007539", "name": "Encephalopathy, recurrent, of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["encephalopathy recurrent of childhood", "encephalopathy, recurrent, of childhood"], "xref": ["GARD:0003949", "MEDGEN:342069", "MESH:C536407", "OMIM:130950", "Orphanet:2672", "UMLS:C1851708"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the MEN1 gene, characterized by an increased risk of tumors of the parathyroid glands, pituitary gland, and foregut neuroendocrine tumors (most commonly pancreatic islet cells).", "id": "MONDO:0007540", "name": "Multiple endocrine neoplasia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MEA type 1", "MEA type I", "MEN1", "MEN1 multiple endocrine neoplasia", "MEN1 syndrome", "MEN1-related multiple endocrine neoplasia", "Wermer syndrome", "Wermer's syndrome", "men 1", "men type 1", "men type I", "multiple endocrine adenomatosis type 1", "multiple endocrine adenomatosis type I", "multiple endocrine adenomatosis, type I", "multiple endocrine neoplasia 1", "multiple endocrine neoplasia caused by mutation in MEN1", "multiple endocrine neoplasia type 1", "multiple endocrine neoplasia type 1 syndrome", "multiple endocrine neoplasia type I", "multiple endocrine neoplasia, type I"], "xref": ["DOID:10017", "GARD:0003829", "ICD10CM:E31.21", "ICD9:237.4", "ICD9:258.01", "MEDGEN:9957", "MESH:D018761", "MedDRA:10028190", "NANDO:2200405", "NCIT:C3225", "NORD:1466", "OMIM:131100", "Orphanet:652", "SCTID:30664006", "UMLS:C0025267", "icd11.foundation:1638765741"]}
{"category": ["biolink:Disease"], "description": "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.", "id": "MONDO:0007542", "name": "Camurati-engelmann disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Camurati-Engelmann disease", "Camurati-Engelmann syndrome", "Camurati-Englemann disease", "progressive diaphyseal dysplasia"], "xref": ["DOID:4997", "GARD:0001072", "ICD10CM:Q78.3", "ICD9:756.59", "MEDGEN:4268", "NANDO:2200970", "NCIT:C84610", "NORD:885", "OMIMPS:131300", "Orphanet:1328", "SCTID:318761000119105", "UMLS:C0011989"]}
{"category": ["biolink:Disease"], "description": "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.", "id": "MONDO:0007544", "name": "Eosinophilia, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eosinophilia, familial"], "xref": ["MEDGEN:78796", "MESH:C562722", "OMIM:131400", "SCTID:79336007", "UMLS:C0272192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007545", "name": "Eosinophilopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Eosinophilopenia"], "xref": ["MEDGEN:343610", "OMIM:131430", "UMLS:C1851586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007546", "name": "Myeloproliferative disorder, chronic, with eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myeloproliferative disorder, chronic, with eosinophilia"], "xref": ["DOID:0111344", "GARD:0024563", "MEDGEN:377060", "MESH:C565054", "OMIM:131440", "UMLS:C1851585"]}
{"category": ["biolink:Disease"], "description": "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.", "id": "MONDO:0007547", "name": "Epidermoid cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Epidermal cyst", "Follicular infundibular cyst", "epidermal inclusion cyst", "epidermoid cyst", "epidermoid cysts", "epithelial cyst", "horn cyst", "inclusion cyst", "infundibular cyst", "keratin cyst", "keratinizing cyst", "keratinous cyst", "squamous cyst"], "xref": ["ICD10CM:L72.0", "MEDGEN:41829", "MESH:D004814", "NCIT:C3134", "OMIM:131600", "SCTID:419893006", "UMLS:C0014511"]}
{"category": ["biolink:Disease"], "description": "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.", "id": "MONDO:0007548", "name": "Transient bullous dermolysis of the newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["transient bullous dermolysis of the newborn", "transient bullous of the newborn"], "xref": ["DOID:0111345", "GARD:0010010", "MEDGEN:343607", "MESH:C536979", "OMIM:131705", "Orphanet:79411", "UMLS:C1851573"]}
{"category": ["biolink:Disease"], "description": "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.", "id": "MONDO:0007549", "name": "Generalized dominant dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DDEB, Pasini and Cockayne-Touraine types", "DDEB, generalised", "DDEB, generalized", "DDEB-gen", "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types", "epidermolysis bullosa dystrophica, AD"], "xref": ["DOID:0080224", "GARD:0002139", "ICD9:757.39", "MEDGEN:140935", "OMIM:131750", "Orphanet:231568", "SCTID:75875004", "UMLS:C0432322"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.", "id": "MONDO:0007550", "name": "Epidermolysis bullosa simplex 1a, generalized severe", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS, generalised severe", "EBS, generalized severe", "EBSDM", "epidermolysis bullosa simplex 1A, generalized severe", "generalised severe epidermolysis bullosa simplex"], "xref": ["DOID:0060735", "GARD:0002141", "ICD9:771.2", "MEDGEN:38194", "OMIM:131760", "Orphanet:79396", "SCTID:254179000", "UMLS:C0079295"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.", "id": "MONDO:0007551", "name": "Epidermolysis bullosa simplex 1c, localized", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS-loc", "epidermolysis bullosa simplex 1C, localized", "epidermolysis bullosa simplex of palms and soles", "epidermolysis bullosa simplex, Weber-Cockayne type", "localised epidermolysis bullosa simplex", "localized epidermolysis bullosa simplex"], "xref": ["DOID:0080510", "GARD:0002146", "ICD9:757.39", "MEDGEN:87016", "OMIM:131800", "Orphanet:79400", "SCTID:294705005", "UMLS:C0080333"]}
{"category": ["biolink:Disease"], "description": "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.", "id": "MONDO:0007552", "name": "Pretibial dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DEB-Pt", "pretibial DEB"], "xref": ["DOID:0080988", "GARD:0002155", "ICD9:757.39", "MEDGEN:98154", "MESH:C535494", "OMIM:131850", "Orphanet:79410", "SCTID:67653003", "UMLS:C0432321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007553", "name": "Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase"], "xref": ["MEDGEN:342036", "MESH:C565049", "OMIM:131880", "UMLS:C1851570"]}
{"category": ["biolink:Disease"], "description": "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.", "id": "MONDO:0007554", "name": "Epidermolysis bullosa simplex 1b, generalized intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS, generalised intermediate", "EBS, generalized intermediate", "epidermolysis bullosa simplex 1B, generalized intermediate", "epidermolysis bullosa simplex, Kobner type", "epidermolysis bullosa simplex, Koebner type", "epidermolysis bullosa simplex, Köbner type", "generalised EBS, non-Dowling-Meara type", "generalised epidermolysis bullosa simplex, non-Dowling-Meara type", "generalized EBS, non-Dowling-Meara type", "generalized epidermolysis bullosa simplex, non-Dowling-Meara type"], "xref": ["DOID:0080511", "GARD:0002147", "ICD9:757.39", "MEDGEN:1794134", "OMIM:131900", "Orphanet:79399", "SCTID:90496008", "UMLS:C5561924"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.", "id": "MONDO:0007555", "name": "Epidermolysis bullosa simplex 5a, ogna type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBSOG", "epidermolysis bullosa simplex 5A, Ogna type", "epidermolysis bullosa simplex, Ogna type"], "xref": ["DOID:0060736", "GARD:0002148", "ICD9:757.39", "MEDGEN:98488", "MESH:C535962", "OMIM:131950", "Orphanet:79401", "SCTID:398071000", "UMLS:C0432317"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.", "id": "MONDO:0007556", "name": "Epidermolysis bullosa simplex 2f, with mottled pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS-MP", "epidermolysis bullosa simplex 2F, with mottled pigmentation", "epidermolysis bullosa simplex with mottled pigmentation"], "xref": ["DOID:0111346", "GARD:0009737", "ICD9:757.39", "MEDGEN:140934", "MESH:C535959", "OMIM:131960", "Orphanet:79397", "SCTID:254180002", "UMLS:C0432316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007557", "name": "Epidermolysis bullosa with congenital localized absence of skin and deformity of nails", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidermolysis bullosa with congenital localized absence of skin and deformity of nails"], "xref": ["DOID:0111347", "ICD9:757.39", "MEDGEN:82797", "MESH:C562638", "OMIM:132000", "SCTID:2689001", "UMLS:C0268371"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.", "id": "MONDO:0007558", "name": "Self-limited childhood occipital epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["benign occipital epilepsy"], "xref": ["GARD:0002170", "MEDGEN:377052", "OMIM:132090", "Orphanet:25968", "UMLS:C1851549", "icd11.foundation:49954675"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007559", "name": "Photoparoxysmal response 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PPR1", "photoparoxysmal response 1"], "xref": ["GARD:0015065", "MEDGEN:358382", "OMIM:132100", "UMLS:C1868677"]}
{"category": ["biolink:Disease"], "description": "A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.", "id": "MONDO:0007560", "name": "Reading seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EwRIS", "epilepsy with reading-induced seizures"], "xref": ["GARD:0017029", "MEDGEN:75817", "OMIM:132300", "Orphanet:166433", "UMLS:C0278193"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.", "id": "MONDO:0007561", "name": "Multiple epiphyseal dysplasia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COMP multiple epiphyseal dysplasia (disease)", "EDM1", "MED1", "Polyepiphyseal dysplasia type 1", "epiphyseal dysplasia, multiple, type 1", "multiple epiphyseal dysplasia (disease) caused by mutation in COMP"], "xref": ["DOID:0070303", "GARD:0002180", "MEDGEN:325376", "OMIM:132400", "Orphanet:93308", "SCTID:715673002", "UMLS:C1838280", "icd11.foundation:2130489957"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.", "id": "MONDO:0007562", "name": "Multiple epiphyseal dysplasia, beighton type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["epiphyseal dysplasia, multiple, with myopia and deafness"], "xref": ["DOID:0111348", "GARD:0017012", "MEDGEN:377049", "MESH:C565046", "OMIM:132450", "Orphanet:166011", "SCTID:719689005", "UMLS:C1851536", "icd11.foundation:1115252418"]}
{"category": ["biolink:Disease"], "description": "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.", "id": "MONDO:0007564", "name": "Pilomatrixoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["calcifying Epitherlioma of Malherbe", "epithelioma calcificans of Malherbe", "pilomatricoma", "pilomatricoma, somatic", "pilomatrixoma", "pilomatrixoma, benign"], "xref": ["DOID:5374", "EFO:0009082", "GARD:0009452", "ICDO:8110/0", "MEDGEN:61666", "MESH:D018296", "MedDRA:10035040", "NCIT:C7368", "OMIM:132600", "Orphanet:91414", "SCTID:274901004", "UMLS:C0206711", "icd11.foundation:378820295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007565", "name": "Familial cylindromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Ancell-Spiegler syndrome", "turban tumor", "turban tumor syndrome", "turban tumour", "turban tumour syndrome"], "xref": ["GARD:0009707", "MEDGEN:343593", "MESH:C536611", "NCIT:C43352", "OMIM:132700", "Orphanet:211", "UMLS:C1851526"]}
{"category": ["biolink:Disease"], "description": "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.", "id": "MONDO:0007566", "name": "Multiple self-healing squamous epithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Ferguson-Smith disease", "Ferguson-Smith syndrome", "Ferguson-Smith tumor", "Ferguson-Smith tumour", "MSSE", "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type", "multiple keratoacanthoma, Ferguson-Smith type", "multiple self healing epithelioma of Ferguson-Smith", "multiple self-healing squamous epithelioma", "self-healing squamous epithelioma type 1"], "xref": ["DOID:5585", "GARD:0003090", "MEDGEN:154270", "MESH:C536150", "NCIT:C4461", "OMIM:132800", "Orphanet:65748", "SCTID:254659009", "UMLS:C0546476"]}
{"category": ["biolink:Disease"], "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.", "id": "MONDO:0007568", "name": "Aortic aneurysm, familial thoracic 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYH11 familial thoracic aortic aneurysm and aortic dissection", "aortic aneurysm, familial thoracic 4", "aortic aneurysm, familial thoracic type 4", "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11"], "xref": ["GARD:0009876", "MEDGEN:338704", "MESH:C537784", "OMIM:132900", "UMLS:C1851504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007569", "name": "Erythema nodosum, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["erythema nodosum, familial"], "xref": ["MEDGEN:377045", "MESH:C535510", "OMIM:132990", "UMLS:C1851503"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.", "id": "MONDO:0007570", "name": "Erythema palmare hereditarium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Red palms disease", "erythema palmare hereditarium", "lane disease"], "xref": ["GARD:0017157", "MEDGEN:343587", "MESH:C565041", "OMIM:133000", "Orphanet:231031", "SCTID:763767006", "UMLS:C1851502"]}
{"category": ["biolink:Disease"], "description": "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.", "id": "MONDO:0007571", "name": "Primary erythermalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PERYTHM", "primary erythromelalgia"], "xref": ["GARD:0006377", "MEDGEN:8688", "NCIT:C125383", "OMIM:133020", "Orphanet:90026", "UMLS:C0014805", "icd11.foundation:327001486"]}
{"category": ["biolink:Disease"], "description": "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.", "id": "MONDO:0007572", "name": "Primary familial polycythemia due to epo receptor mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPOR familial polycythemia", "PFCP", "congenital erythrocytosis due to erythropoietin receptor mutation", "congenital polycythemia due to erythropoietin receptor mutation", "erythrocytosis, familial, 1", "erythrocytosis, familial, type 1", "erythrocytosis, somatic", "familial erythrocytosis", "familial erythrocytosis type 1", "familial erythrocytosis, 1", "familial polycythemia caused by mutation in EPOR", "primary congenital erythrocytosis", "primary familial and congenital polycythemia"], "xref": ["DOID:0060652", "GARD:0009843", "ICD9:289.6", "MEDGEN:1641215", "OMIM:133100", "Orphanet:90042", "SCTID:17342003", "UMLS:C4551637", "icd11.foundation:962836252"]}
{"category": ["biolink:Disease"], "description": "An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.", "id": "MONDO:0007573", "name": "Erythroleukemia, familial, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["erythroleukemia, familial, susceptibility to", "hereditary acute erythroid leukaemia", "hereditary acute erythroid leukemia"], "xref": ["GARD:0027777", "ICD9:207.0", "MEDGEN:1790819", "MESH:C565039", "OMIM:133180", "UMLS:C5552985"]}
{"category": ["biolink:Disease"], "description": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.", "id": "MONDO:0007574", "name": "Spinocerebellar ataxia type 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Erythrokeratodermia with Ataxia", "SCA34", "erythrokeratodermia with ataxia", "spinocerebellar ataxia and erythrokeratodermia", "spinocerebellar ataxia type 34"], "xref": ["DOID:0050981", "GARD:0000059", "MEDGEN:338703", "MESH:C535738", "NORD:1105", "OMIM:133190", "Orphanet:1955", "SCTID:719255000", "UMLS:C1851481"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "id": "MONDO:0007576", "name": "Esophageal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of esophagus", "cancer of oesophagus", "esophageal cancer", "esophageal cancer, somatic", "esophageal carcinoma, somatic", "esophageal squamous cell carcinoma, somatic", "esophagus cancer", "malignant esophageal neoplasm", "malignant esophageal tumor", "malignant esophageal tumour", "malignant esophagus neoplasm", "malignant esophagus tumor", "malignant neoplasm of esophagus", "malignant neoplasm of oesophagus", "malignant neoplasm of the esophagus", "malignant neoplasm of the oesophagus", "malignant oesophagus neoplasm", "malignant oesophagus tumour", "malignant tumor of esophagus", "malignant tumor of the esophagus", "malignant tumour of oesophagus", "malignant tumour of the oesophagus", "oesophagus cancer"], "xref": ["DOID:5041", "GARD:0027778", "ICD10CM:C15", "ICD9:150.3", "ICD9:150.4", "ICD9:150.5", "ICD9:150.8", "ICD9:150.9", "MEDGEN:107792", "NCIT:C7478", "OMIM:133239", "SCTID:363402007", "UMLS:C0546837", "icd11.foundation:669033105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007577", "name": "Esophageal ring, lower", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["esophageal ring, lower"], "xref": ["ICD9:750.3", "MEDGEN:83320", "MESH:C562765", "OMIM:133240", "SCTID:235623002", "UMLS:C0341137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007581", "name": "Exchondrosis of pinna, posterior", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["exchondrosis of pinna, posterior"], "xref": ["MEDGEN:377032", "MESH:C565036", "OMIM:133500", "UMLS:C1851463"]}
{"category": ["biolink:Disease"], "description": "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0007584", "name": "Exostoses-anetodermia-brachydactyly type e syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002202", "MEDGEN:338695", "MESH:C565034", "OMIM:133690", "Orphanet:1962", "UMLS:C1851428"]}
{"category": ["biolink:Disease"], "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.", "id": "MONDO:0007585", "name": "Exostoses, multiple, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["EXT1 exostoses, multiple", "exostoses, multiple caused by mutation in EXT1", "exostoses, multiple, type 1"], "xref": ["GARD:0002204", "OMIM:133700"]}
{"category": ["biolink:Disease"], "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.", "id": "MONDO:0007586", "name": "Exostoses, multiple, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["EXT2 Gene", "EXT2 exostoses, multiple", "exostoses (Multiple) 2 Gene", "exostoses, multiple caused by mutation in EXT2", "exostoses, multiple, type 2"], "xref": ["GARD:0002205", "MEDGEN:377018", "NCIT:C18252", "OMIM:133701", "UMLS:C1851413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007587", "name": "External auditory canal atresia-vertical talus-hypertelorism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Rasmussen-Johnsen-Thomsen syndrome"], "xref": ["GARD:0004638", "MEDGEN:361813", "OMIM:133705", "Orphanet:3023", "UMLS:C1876181"]}
{"category": ["biolink:Disease"], "description": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.", "id": "MONDO:0007588", "name": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Char-Douglas-Dungan syndrome"], "xref": ["GARD:0002213", "MEDGEN:343564", "MESH:C565032", "OMIM:133750", "Orphanet:1964", "UMLS:C1851412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007589", "name": "Exudative vitreoretinopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["exudative vitreoretinopathy 1", "exudative vitreoretinopathy type 1"], "xref": ["DOID:0111412", "GARD:0015068", "MEDGEN:343561", "MESH:C536382", "NCIT:C175048", "OMIM:133780", "UMLS:C1851402"]}
{"category": ["biolink:Disease"], "description": "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.", "id": "MONDO:0007590", "name": "Hemifacial hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemifacial hypertrophy"], "xref": ["GARD:0016971", "MEDGEN:452987", "OMIM:133900", "Orphanet:141145", "UMLS:C1399354", "icd11.foundation:2090544963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007592", "name": "Familial recurrent peripheral facial palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["familial recurrent Bell palsy"], "xref": ["GARD:0016609", "MEDGEN:342742", "MESH:C565028", "OMIM:134200", "Orphanet:2809", "UMLS:C1851399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007593", "name": "Facial spasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["facial spasm"], "xref": ["MEDGEN:124458", "OMIM:134300", "UMLS:C0278151"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007594", "name": "Factor 5 excess with spontaneous thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Proaccelerin Excess"], "xref": ["GARD:0024564", "MEDGEN:341996", "MESH:C565026", "OMIM:134400", "UMLS:C1851378"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007595", "name": "Factor vii and factor viii, combined deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["factor VII and Factor VIII, combined deficiency of"], "xref": ["GARD:0024565", "MEDGEN:341995", "MESH:C565025", "OMIM:134430", "UMLS:C1851377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007597", "name": "Factor viii and factor ix, combined deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["factor VIII and Factor IX, combined deficiency of"], "xref": ["MEDGEN:341994", "MESH:C565024", "OMIM:134510", "UMLS:C1851376"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007598", "name": "Factors viii, ix and xi, combined deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["factors VIII, IX and XI, combined deficiency of"], "xref": ["MEDGEN:341993", "MESH:C565023", "OMIM:134520", "UMLS:C1851375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007599", "name": "Factor 9 and factor xi, combined deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:377012", "MESH:C565022", "OMIM:134540", "UMLS:C1851374"]}
{"category": ["biolink:Disease"], "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", "id": "MONDO:0007600", "name": "Primary fanconi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009118", "MEDGEN:341765", "NCIT:C123229", "Orphanet:3337", "UMLS:C1857395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007601", "name": "Familial mediterranean fever, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["familial Mediterranean fever, AD", "familial Mediterranean fever, autosomal dominant"], "xref": ["GARD:0015069", "MEDGEN:341987", "MESH:C565021", "OMIM:134610", "UMLS:C1851347"]}
{"category": ["biolink:Disease"], "description": "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.", "id": "MONDO:0007603", "name": "Felty syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Felty syndrome", "Felty's syndrome", "rheumatoid arthritis with splenoadenomegaly and leukopenia", "splenomegaly-neutropenia-rheumatoid arthritis syndrome"], "xref": ["DOID:11042", "EFO:0007269", "GARD:0008234", "ICD10CM:M05.0", "ICD9:714.1", "MEDGEN:4674", "MESH:D005258", "MedDRA:10016386", "NCIT:C84712", "NORD:1135", "OMIM:134750", "Orphanet:47612", "SCTID:57160007", "UMLS:C0015773"]}
{"category": ["biolink:Disease"], "description": "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.", "id": "MONDO:0007604", "name": "Femoral-facial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FFS", "FHUFS", "Femoral Facial Syndrome", "femoral facial syndrome", "femoral hypoplasia-unusual facies syndrome", "femoral-facial syndrome"], "xref": ["GARD:0000061", "ICD9:759.89", "MEDGEN:120523", "MESH:C537916", "NORD:1136", "OMIM:134780", "Orphanet:1988", "SCTID:13280000", "UMLS:C0265263", "icd11.foundation:505576809"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007605", "name": "Fibrinolytic defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibrinolytic defect"], "xref": ["MEDGEN:338221", "MESH:C565017", "OMIM:134900", "UMLS:C1851184"]}
{"category": ["biolink:Disease"], "description": "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.", "id": "MONDO:0007606", "name": "Fibrodysplasia ossificans progressiva", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FOP", "Stone Man syndrome", "Stone man syndrome", "fibrodysplasia ossificans progressiva", "fop", "progressive myositis ossificans"], "xref": ["DOID:13374", "GARD:0006445", "ICD10CM:M61.1", "ICD9:728.11", "MEDGEN:4698", "MedDRA:10068715", "NANDO:1200871", "NANDO:2201020", "NCIT:C3040", "NORD:1143", "OMIM:135100", "Orphanet:337", "SCTID:82725007", "UMLS:C0016037", "icd11.foundation:2102976705"]}
{"category": ["biolink:Disease"], "description": "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.", "id": "MONDO:0007608", "name": "Desmoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aggressive fibromatosis", "deep fibromatosis", "deep fibromatosis/desmoid tumor", "deep fibromatosis/desmoid tumour", "desmoid fibromatosis", "desmoid tumor", "desmoid type fibromatosis", "desmoid-type fibromatosis"], "xref": ["DOID:0080366", "EFO:0009907", "GARD:0001820", "ICDO:8821/1", "MEDGEN:38187", "MESH:D018222", "NCIT:C9182", "NORD:1049", "OMIM:135290", "ONCOTREE:DES", "Orphanet:873", "UMLS:C0079218"]}
{"category": ["biolink:Disease"], "description": "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.", "id": "MONDO:0007609", "name": "Fibromatosis, gingival, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SOS1 gingival fibromatosis", "SOS1 hereditary gingival fibromatosis", "fibromatosis, gingival, 1", "fibromatosis, gingival, type 1", "gingival fibromatosis caused by mutation in SOS1", "hereditary gingival fibromatosis caused by mutation in SOS1"], "xref": ["GARD:0006509", "MEDGEN:1647111", "OMIM:135300", "UMLS:C4551558"]}
{"category": ["biolink:Disease"], "description": "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.", "id": "MONDO:0007610", "name": "Gingival fibromatosis-hypertrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CGHT", "congenital generalised hypertrichosis terminalis", "congenital generalized hypertrichosis terminalis", "hirsutism-congenital gingival hyperplasia syndrome", "hypertrichosis with or without gingival hyperplasia", "hypertrichosis, congenital generalized, with gingival hyperplasia"], "xref": ["GARD:0002324", "MEDGEN:342675", "MESH:C565016", "OMIM:135400", "Orphanet:2026", "SCTID:716008002", "UMLS:C1851120"]}
{"category": ["biolink:Disease"], "description": "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.", "id": "MONDO:0007612", "name": "Gingival fibromatosis-progressive deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jones syndrome"], "xref": ["GARD:0003056", "MEDGEN:341928", "MESH:C535886", "OMIM:135550", "Orphanet:2027", "SCTID:722449007", "UMLS:C1851112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007614", "name": "Congenital fibrosis of extraocular muscles", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Congenital Fibrosis of the Extraocular Muscles", "FEOM", "congenital fibrosis of the extraocular muscles", "fibrosis of extraocular muscles, congenital", "fibrosis of extraocular muscles, congenital, type 1"], "xref": ["DOID:0080143", "GARD:0012590", "ICD9:728.2", "MEDGEN:724506", "MESH:C580012", "NORD:997", "OMIMPS:135700", "Orphanet:45358", "SCTID:400946004", "UMLS:C1302995", "icd11.foundation:887449084"]}
{"category": ["biolink:Disease"], "description": "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.", "id": "MONDO:0007615", "name": "Laurin-sandrow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sandrow syndrome", "laurin-Sandrow syndrome", "mirror hands and feets-nasal defects syndrome"], "xref": ["DOID:0111350", "GARD:0000155", "MEDGEN:340697", "MESH:C535689", "OMIM:135750", "Orphanet:2378", "SCTID:715440003", "UMLS:C1851100", "icd11.foundation:671594481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007616", "name": "Fibula, recurrent dislocation of head of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibula, recurrent dislocation of head of"], "xref": ["MEDGEN:338206", "MESH:C565011", "OMIM:135800", "UMLS:C1851099"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.", "id": "MONDO:0007617", "name": "Coffin-siris syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARID1B-related BAFopathy", "COFFIN-SIRIS syndrome 1", "CSS1", "Coffin-Siris syndrome 1", "MRD12", "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features", "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "intellectual disability, autosomal dominant 12", "mental retardation, autosomal dominant type 12"], "xref": ["DOID:0070042", "GARD:0015072", "MEDGEN:482831", "MESH:C538391", "OMIM:135900", "OMIM:609943", "OMIM:614562", "UMLS:C3281201"]}
{"category": ["biolink:Disease"], "description": "Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.", "id": "MONDO:0007618", "name": "Eng-strom syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["short stature-locking fingers syndrome"], "xref": ["GARD:0002123", "MEDGEN:338204", "OMIM:135950", "Orphanet:1937", "UMLS:C1851081"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.", "id": "MONDO:0007619", "name": "Isolated congenital adermatoglyphia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADERM", "congenital absence of fingerprints", "immigration delay disease", "isolated congenital adermatoglyphia"], "xref": ["DOID:0111357", "GARD:0012550", "MEDGEN:338875", "MESH:C565010", "OMIM:136000", "Orphanet:289465", "SCTID:763748007", "UMLS:C1852150"]}
{"category": ["biolink:Disease"], "description": "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.", "id": "MONDO:0007620", "name": "Fish eye disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FED", "fed", "fish eye disease", "partial LCAT deficiency"], "xref": ["GARD:0006450", "MEDGEN:83354", "OMIM:136120", "Orphanet:79292", "SCTID:238092004", "UMLS:C0342895"]}
{"category": ["biolink:Disease"], "description": "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.", "id": "MONDO:0007621", "name": "Floating-harbor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Floating Harbor Syndrome", "floating-HARBOR syndrome", "floating-Harbor syndrome"], "xref": ["DOID:0111358", "GARD:0006455", "ICD9:759.89", "MEDGEN:152667", "MESH:C537062", "NCIT:C175241", "NORD:1151", "OMIM:136140", "Orphanet:2044", "SCTID:312214005", "UMLS:C0729582", "icd11.foundation:2101730645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007623", "name": "Flushing of ears and somnolence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["flushing of ears and somnolence"], "xref": ["MEDGEN:340685", "OMIM:136200", "UMLS:C1851055"]}
{"category": ["biolink:Disease"], "description": "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.", "id": "MONDO:0007624", "name": "Flynn-aird syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Flynn-Aird syndrome"], "xref": ["GARD:0002347", "MEDGEN:91009", "MESH:C537066", "OMIM:136300", "Orphanet:2047", "SCTID:239056006", "UMLS:C0343108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007625", "name": "Focal epithelial hyperplasia of the oral mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["focal epithelial hyperplasia of the oral mucosa"], "xref": ["MEDGEN:340674", "MESH:C565008", "OMIM:136400", "UMLS:C1851009"]}
{"category": ["biolink:Disease"], "description": "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007626", "name": "Familial congenital palsy of trochlear nerve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary fourth cranial nerve palsy"], "xref": ["GARD:0010355", "MEDGEN:338185", "MESH:C565007", "OMIM:136480", "Orphanet:91498", "UMLS:C1850996"]}
{"category": ["biolink:Disease"], "description": "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.", "id": "MONDO:0007627", "name": "Focal facial dermal dysplasia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Brauer syndrome", "FFDD type I", "FFDD1", "bitemporal aplasia cutis congenita", "focal facial dermal dysplasia 1, Brauer type", "focal facial dermal dysplasia type 1"], "xref": ["GARD:0016524", "MEDGEN:1718224", "OMIM:136500", "Orphanet:79133", "UMLS:C5235196"]}
{"category": ["biolink:Disease"], "description": "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.", "id": "MONDO:0007628", "name": "Foveal hypoplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PAX6 foveal hypoplasia", "foveal hypoplasia 1", "foveal hypoplasia caused by mutation in PAX6", "foveal hypoplasia type 1"], "xref": ["DOID:0070530", "GARD:0024566", "MEDGEN:811934", "OMIM:136520", "UMLS:C3805604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007629", "name": "Fragile site 10q23", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fragile site 10Q23", "fragile site type 10Q23"], "xref": ["MEDGEN:338183", "OMIM:136540", "UMLS:C1850987"]}
{"category": ["biolink:Disease"], "description": "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.", "id": "MONDO:0007630", "name": "North carolina macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAPE dystrophy", "CAPED", "MCDR1", "NCMD", "North Carolina macular dystrophy", "North Carolina macular dystrophy, retinal 1", "caped", "central areolar pigment epithelial dystrophy", "central retinal pigment epithelial dystrophy", "macular dystrophy 1, North Carolina type", "progressive foveal dystrophy"], "xref": ["DOID:0070439", "GARD:0009179", "MEDGEN:147590", "MESH:C537835", "OMIM:136550", "Orphanet:75327", "SCTID:312925009", "UMLS:C0730294", "icd11.foundation:1931008217"]}
{"category": ["biolink:Disease"], "description": "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.", "id": "MONDO:0007631", "name": "Chromosome 16p12.1 deletion syndrome, 520kb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)", "chromosome 16p12.1 deletion syndrome", "chromosome 16p12.1 deletion syndrome, type 520kb"], "xref": ["DECIPHER:92", "DOID:0060399", "GARD:0024567", "MEDGEN:460626", "MESH:C565001", "NCIT:C129875", "OMIM:136570", "UMLS:C3149276"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007633", "name": "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness"], "xref": ["MEDGEN:376920", "MESH:C564999", "OMIM:136600", "UMLS:C1850982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007634", "name": "Intellectual disability, fra12a type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intellectual disability, FRA12A type"], "xref": ["DOID:0061049", "MEDGEN:369613", "MESH:C566980", "OMIM:136630", "UMLS:C1969893"]}
{"category": ["biolink:Disease"], "description": "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.", "id": "MONDO:0007635", "name": "Frasier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Frasier syndrome", "Frasier syndrome, autosomal dominant, somatic mutation"], "xref": ["DOID:0050438", "GARD:0002375", "ICD9:759.89", "MEDGEN:215533", "MESH:D052159", "NCIT:C122805", "OMIM:136680", "Orphanet:347", "SCTID:445431000", "UMLS:C0950122", "icd11.foundation:1659542949"]}
{"category": ["biolink:Disease"], "description": "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.", "id": "MONDO:0007636", "name": "Frontorhiny", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALX3-related frontonasal dysplasia", "frontonasal dysplasia type 1", "frontorhiny", "isolated median cleft face syndrome"], "xref": ["DOID:0081045", "GARD:0012642", "MEDGEN:1803615", "NCIT:C129028", "OMIM:136760", "Orphanet:391474", "UMLS:C5574965"]}
{"category": ["biolink:Disease"], "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.", "id": "MONDO:0007637", "name": "Corneal dystrophy, fuchs endothelial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL8A2 Fuchs' endothelial dystrophy", "Fuchs' endothelial dystrophy caused by mutation in COL8A2", "corneal dystrophy, Fuchs endothelial, 1", "corneal dystrophy, Fuchs endothelial, type 1"], "xref": ["GARD:0018216", "MEDGEN:338172", "MESH:C535478", "OMIM:136800", "UMLS:C1850959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007638", "name": "Fucosidase regulator", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fucosidase regulator"], "xref": ["MEDGEN:342631", "OMIM:136830", "UMLS:C1850954"]}
{"category": ["biolink:Disease"], "description": "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.", "id": "MONDO:0007639", "name": "Fundus albipunctatus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fundus albipunctatus", "pigmentary retinal dystrophy"], "xref": ["DOID:11105", "GARD:0013809", "ICD9:362.74", "ICD9:362.76", "MEDGEN:86317", "MESH:C562733", "OMIM:136880", "Orphanet:227796", "SCTID:68222009", "UMLS:C0311338", "icd11.foundation:1981512475"]}
{"category": ["biolink:Disease"], "description": "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.", "id": "MONDO:0007640", "name": "Sorsby fundus dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SFD", "Sorsby fundus dystrophy"], "xref": ["DOID:0090114", "GARD:0016480", "MEDGEN:338164", "MESH:C564992", "OMIM:136900", "Orphanet:59181", "SCTID:193410003", "UMLS:C1850938", "icd11.foundation:796458172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007642", "name": "Isolated agenesis of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021844", "MEDGEN:82736", "MESH:C562564", "OMIM:137040", "Orphanet:440987", "UMLS:C0266251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007643", "name": "Gamma-a-globulin, defect in assembly of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:342627", "MESH:C564991", "OMIM:137050", "UMLS:C1850934"]}
{"category": ["biolink:Disease"], "description": "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.", "id": "MONDO:0007644", "name": "Igad1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["IGAD1", "IgAD1", "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases"], "xref": ["GARD:0024568", "MEDGEN:419725", "MESH:C536290", "NCIT:C123434", "OMIM:137100", "UMLS:C2931161"]}
{"category": ["biolink:Disease"], "description": "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.", "id": "MONDO:0007646", "name": "Gamstorp-wohlfart syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARAN-NM", "ARCMT2-NM", "Gamstorp-Wohlfart syndrome", "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia"], "xref": ["DOID:0050526", "GARD:0012353", "MEDGEN:1814513", "OMIM:137200", "Orphanet:324442", "SCTID:711406009", "UMLS:C5700127", "icd11.foundation:1738677442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007647", "name": "Gastric volvulus, intrathoracic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gastric volvulus, intrathoracic"], "xref": ["MEDGEN:338155", "MESH:C564989", "OMIM:137210", "UMLS:C1850902"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.", "id": "MONDO:0007648", "name": "Hereditary diffuse gastric adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FDGC", "HDGC", "familial diffuse cancer of stomach", "familial diffuse gastric cancer", "hereditary diffuse cancer of stomach", "hereditary diffuse gastric adenocarcinoma", "hereditary diffuse gastric cancer"], "xref": ["DOID:0080764", "GARD:0010900", "MEDGEN:310839", "NCIT:C43295", "Orphanet:26106", "SCTID:716859000", "UMLS:C1708349"]}
{"category": ["biolink:Disease"], "description": "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)", "id": "MONDO:0007650", "name": "Malt lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Extranodal marginal zone B-cell lymphoma", "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue", "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)", "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue", "Immunocytoma", "MALT lymphoma", "MALT-lymphoma", "MALToma", "lymphoma of mucosa-associated lymphoid tissue", "lymphoma, MALT, somatic", "mucosa-associated lymphatic tissue lymphoma", "mucosa-associated lymphoid tissue lymphoma"], "xref": ["DOID:0050909", "EFO:0000191", "GARD:0006485", "ICD10CM:C88.4", "ICD9:202.80", "ICDO:9699/3", "MEDGEN:66942", "MedDRA:10060707", "NCIT:C3898", "OMIM:137245", "ONCOTREE:EMALT", "Orphanet:52417", "SCTID:277622004", "UMLS:C0242647", "Wikipedia:MALT_lymphoma"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007651", "name": "Gastrocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["gastrocutaneous syndrome"], "xref": ["GARD:0002438", "MEDGEN:338154", "MESH:C535651", "OMIM:137270", "Orphanet:2069", "UMLS:C1850899", "icd11.foundation:1431211717"]}
{"category": ["biolink:Disease"], "description": "A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.", "id": "MONDO:0007652", "name": "Gastric mucosal hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MENETRIER disease", "Menetrier Disease", "Menetrier disease", "Menetrier's disease", "Ménétrier disease", "giant hypertrophic gastritis", "hypertrophic gastritis", "hypertrophic gastropathy", "hypoproteinemic hypertrophic gastropathy"], "xref": ["DOID:8757", "EFO:1000946", "GARD:0002436", "ICD9:535.2", "ICD9:535.20", "ICD9:535.21", "MEDGEN:4844", "MESH:D005758", "MedDRA:10017807", "MedDRA:10017868", "NCIT:C67277", "NORD:1432", "OMIM:137280", "Orphanet:2494", "SCTID:60002000", "UMLS:C0017155", "icd11.foundation:1343994188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007653", "name": "Genochondromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["genochondromatosis"], "xref": ["GARD:0010621", "MEDGEN:224887", "MESH:C563215", "OMIM:137360", "SCTID:389264005", "UMLS:C1300229", "icd11.foundation:1222756922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007654", "name": "Genu valgum, st. helena familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["genu valgum, st. Helena familial"], "xref": ["MEDGEN:333980", "MESH:C537685", "OMIM:137370", "UMLS:C1842052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007655", "name": "Fissured tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Furrowed tongue", "plicated tongue", "scrotal tongue"], "xref": ["DOID:11514", "ICD10CM:K14.5", "ICD9:529.5", "ICD9:750.13", "MEDGEN:1624209", "MESH:D014063", "OMIM:137400", "SCTID:52368004", "UMLS:C4540616", "icd11.foundation:699700094"]}
{"category": ["biolink:Disease"], "description": "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.", "id": "MONDO:0007656", "name": "Gerstmann-straussler-scheinker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gerstmann-Straussler-Scheinker disease", "prion dementia", "subacute spongiform encephalopathy, Gerstmann-Straussler type"], "xref": ["DOID:4249", "GARD:0007690", "ICD10CM:A81.82", "ICD9:046.71", "MEDGEN:4886", "MESH:C535800", "MedDRA:10072075", "NANDO:1200190", "NCIT:C84727", "OMIM:137440", "Orphanet:356", "SCTID:67155006", "UMLS:C0017495", "icd11.foundation:406818835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007657", "name": "Giant neutrophil leukocytes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["giant neutrophil leukocytes"], "xref": ["MEDGEN:330754", "OMIM:137500", "UMLS:C1842039"]}
{"category": ["biolink:Disease"], "description": "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007660", "name": "Familial ossifying fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary ossifying fibroma (disease)", "multiple ossifying fibroma"], "xref": ["GARD:0017713", "MEDGEN:501159", "MESH:C563017", "OMIM:137575", "Orphanet:435329", "UMLS:C3495361"]}
{"category": ["biolink:Disease"], "description": "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.", "id": "MONDO:0007661", "name": "Tourette syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["Tourette disease", "Tourette syndrome", "Tourette's syndrome", "motor-verbal tic disorder"], "xref": ["DOID:11119", "EFO:0004895", "ICD10CM:F95.2", "ICD9:307.23", "MEDGEN:21219", "MESH:D005879", "NCIT:C35078", "OMIM:137580", "Orphanet:856", "SCTID:5158005", "UMLS:C0040517", "icd11.foundation:119340957"]}
{"category": ["biolink:Disease"], "description": "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.", "id": "MONDO:0007662", "name": "Anterior segment dysgenesis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IRID2", "PITX2 iridogoniodysgenesis", "anterior segment dysgenesis 4", "iridogoniodysgenesis caused by mutation in PITX2", "iridogoniodysgenesis, type 2"], "xref": ["DOID:0080609", "GARD:0003026", "MEDGEN:330750", "OMIM:137600", "UMLS:C1842031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007663", "name": "Glaucoma with elevated episcleral venous pressure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glaucoma with elevated episcleral venous pressure"], "xref": ["GARD:0024569", "MEDGEN:333975", "MESH:C564235", "OMIM:137700", "UMLS:C1842030"]}
{"category": ["biolink:Disease"], "description": "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.", "id": "MONDO:0007664", "name": "Glaucoma 1, open angle, a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["JOAG1A", "MYOC juvenile glaucoma", "MYOC juvenile open angle glaucoma", "glaucoma 1, open angle, A", "glaucoma 1, open angle, type A", "glaucoma 1A, primary open angle", "juvenile glaucoma caused by mutation in MYOC", "juvenile open angle glaucoma caused by mutation in MYOC"], "xref": ["GARD:0009485", "MEDGEN:333974", "MESH:C564234", "OMIM:137750", "UMLS:C1842028"]}
{"category": ["biolink:Disease"], "description": "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).", "id": "MONDO:0007666", "name": "Glaucoma-sleep apnea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002483", "MEDGEN:330749", "MESH:C564232", "OMIM:137763", "Orphanet:2085", "UMLS:C1842025"]}
{"category": ["biolink:Disease"], "description": "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.", "id": "MONDO:0007667", "name": "Subependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_histopathological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["SUBEPENDYMOMA, benign", "WHO grade I ependymal neoplasm", "WHO grade I ependymal tumor", "WHO grade I ependymal tumour", "subependymal astrocytoma", "subependymal glioma", "subependymoma"], "xref": ["DOID:4843", "EFO:1000553", "GARD:0010070", "ICDO:9383/1", "MEDGEN:64637", "MESH:D018315", "NCIT:C3795", "ONCOTREE:SUBE", "Orphanet:251639", "UMLS:C0206725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007668", "name": "Globulin anomaly involving beta (2a)-globulin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["globulin anomaly involving beta (2A)-globulin"], "xref": ["MEDGEN:330741", "MESH:C564229", "OMIM:137900", "UMLS:C1842009"]}
{"category": ["biolink:Disease"], "description": "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.", "id": "MONDO:0007669", "name": "Renal cysts and diabetes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CAKUT with diabetes", "HNF1B-MODY", "HNF1B-related renal cysts and diabetes syndrome", "MODY5", "RCAD", "RCAD syndrome", "congenital anomalies of the kidney and urinary tract with diabetes", "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes", "maturity onset diabetes of the Young, type 5", "renal cysts and diabetes syndrome", "renal cysts-maturity-onset diabetes of the young syndrome", "renal dysfunction-early-onset diabetes syndrome"], "xref": ["DECIPHER:47", "DOID:0111101", "GARD:0010221", "MEDGEN:96569", "MESH:C535520", "NANDO:2201073", "NCIT:C123018", "OMIM:137920", "Orphanet:93111", "SCTID:446641003", "UMLS:C0431693"]}
{"category": ["biolink:Disease"], "description": "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.", "id": "MONDO:0007670", "name": "Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012827", "Orphanet:69735"]}
{"category": ["biolink:Disease"], "description": "A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.", "id": "MONDO:0007671", "name": "Fibronectin glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["GFND", "fibronectin glomerulopathy", "glomerulopathy with fibronectin deposits"], "xref": ["GARD:0015019", "MEDGEN:854773", "MESH:C536826", "MESH:C562900", "NANDO:2200133", "OMIMPS:137950", "Orphanet:84090", "SCTID:236535001", "UMLS:C3888104", "icd11.foundation:1877494378"]}
{"category": ["biolink:Disease"], "description": "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.", "id": "MONDO:0007672", "name": "Glomuvenous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VMGLOM", "Venous malformations with glomus cells", "familial glomangioma", "glomuvenous malformation", "hereditary glomangioma", "hereditary multiple glomangiomas", "multiple glomus tumors", "multiple glomus tumours"], "xref": ["DOID:7996", "GARD:0016728", "MEDGEN:374834", "MESH:C536827", "MedDRA:10018381", "NCIT:C5350", "OMIM:138000", "Orphanet:83454", "SCTID:715644000", "UMLS:C1841984", "icd11.foundation:2095305475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007673", "name": "Glucoglycinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Glucoglycinuria"], "xref": ["MEDGEN:78686", "MESH:C562670", "OMIM:138070", "UMLS:C0268536", "icd11.foundation:2034546543"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007674", "name": "Glucose-6-phosphate dehydrogenase-like", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glucose-6-phosphate dehydrogenase-like"], "xref": ["MEDGEN:236373", "OMIM:138110", "UMLS:C1414893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007675", "name": "Glutamic acid decarboxylase, brain, membrane form", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glutamic acid decarboxylase, brain, membrane form"], "xref": ["MEDGEN:333943", "OMIM:138277", "UMLS:C1841911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007676", "name": "Glutathione transferase activity toward trans-stilbene oxide", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["glutathione transferase activity toward trans-stilbene oxide"], "xref": ["MEDGEN:330718", "OMIM:138340", "UMLS:C1841901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007677", "name": "Hyperglycinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperglycinuria", "hyperglycinuria (disease)"], "xref": ["HP:0003108", "MEDGEN:107456", "MESH:C563009", "OMIM:138500", "UMLS:C0543541"]}
{"category": ["biolink:Disease"], "description": "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0007679", "name": "Gms syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GMS syndrome", "Goniodysgenesis-intellectual disability-short stature syndrome"], "xref": ["GARD:0002523", "MEDGEN:374804", "MESH:C564214", "OMIM:138770", "Orphanet:2090", "SCTID:716024001", "UMLS:C1841854"]}
{"category": ["biolink:Disease"], "description": "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.", "id": "MONDO:0007680", "name": "Multinodular goiter-cystic kidney-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Daneman-Davy-Mancer syndrome", "thyroid-renal-digital anomalies"], "xref": ["GARD:0001671", "MEDGEN:333929", "MESH:C535986", "OMIM:138790", "Orphanet:2091", "SCTID:723409007", "UMLS:C1841853"]}
{"category": ["biolink:Disease"], "description": "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.", "id": "MONDO:0007681", "name": "Goiter, multinodular 1, with or without sertoli-leydig cell tumors", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FMNG", "MNG1", "familial MNG", "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors", "goiter, nontoxic, with Intrathyroidal calcification", "multinodular goiter, adolescent"], "xref": ["GARD:0017278", "ICD9:240.0", "MEDGEN:86230", "MESH:C562732", "OMIM:138800", "Orphanet:276399", "SCTID:267369002", "UMLS:C0302859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007682", "name": "Granddad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granddad syndrome"], "xref": ["MEDGEN:330701", "MESH:C564211", "OMIM:138920", "UMLS:C1841836"]}
{"category": ["biolink:Disease"], "description": "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0007683", "name": "Grant syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Grant syndrome"], "xref": ["GARD:0002559", "MEDGEN:333925", "MESH:C537293", "OMIM:138930", "Orphanet:2097", "SCTID:723827003", "UMLS:C1841835", "icd11.foundation:1320218486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007685", "name": "Granulosis rubra nasi", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granulosis rubra nasi"], "xref": ["ICD9:705.89", "MEDGEN:78096", "MESH:C562483", "OMIM:139000", "SCTID:22818000", "UMLS:C0263471", "icd11.foundation:1871134805"]}
{"category": ["biolink:Disease"], "description": "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.", "id": "MONDO:0007686", "name": "Gray platelet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha storage pool deficiency", "BDPLT4", "GPS", "gray platelet syndrome", "platelet alpha-granule deficiency"], "xref": ["DOID:0111044", "GARD:0002562", "MEDGEN:82900", "MESH:D055652", "NCIT:C84741", "OMIM:139090", "Orphanet:721", "SCTID:51720005", "UMLS:C0272302", "icd11.foundation:1818085572"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007687", "name": "Graying of hair, precocious", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["graying of hair, precocious"], "xref": ["MEDGEN:374795", "MESH:C564209", "OMIM:139100", "UMLS:C1841809"]}
{"category": ["biolink:Disease"], "description": "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.", "id": "MONDO:0007688", "name": "Myhre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Myhre syndrome", "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome"], "xref": ["GARD:0002572", "ICD9:759.89", "MEDGEN:167103", "MESH:C537620", "NCIT:C123815", "NORD:1481", "OMIM:139210", "Orphanet:2588", "SCTID:699316006", "UMLS:C0796081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007689", "name": "Guanylate kinase 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["guanylate kinase 3", "guanylate kinase type 3"], "xref": ["MEDGEN:331129", "OMIM:139290", "UMLS:C1841763"]}
{"category": ["biolink:Disease"], "description": "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.", "id": "MONDO:0007690", "name": "Aromatase excess syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AEXS", "aromatase excess syndrome", "familial hyperestrogenism", "gynecomastia, familial, due to increased aromatase activity", "gynecomastia, hereditary", "hereditary prepubertal gynecomastia"], "xref": ["DOID:0090122", "GARD:0012494", "ICD9:259.8", "MEDGEN:409989", "MESH:C000591739", "OMIM:139300", "Orphanet:178345", "SCTID:709075008", "UMLS:C1970109", "icd11.foundation:191989744"]}
{"category": ["biolink:Disease"], "description": "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.", "id": "MONDO:0007691", "name": "Guillain-barre syndrome, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIDP", "Guillain-Barre syndrome, familial", "neuropathy, inflammatory demyelinating", "polyneuropathy, inflammatory demyelinating, acute"], "xref": ["EFO:0009538", "GARD:0018211", "MEDGEN:901636", "MedDRA:10057645", "NANDO:1200030", "NANDO:2100251", "NANDO:2200905", "OMIM:139393", "SCTID:716723000", "UMLS:C4083008"]}
{"category": ["biolink:Disease"], "description": "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.", "id": "MONDO:0007693", "name": "Hypertrichosis cubiti-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MacDermot-Patton-Williams syndrome", "hairy elbows", "hairy elbows syndrome"], "xref": ["GARD:0000143", "MEDGEN:870835", "MESH:C535618", "MedDRA:10068636", "OMIM:139600", "Orphanet:2220", "UMLS:C4025295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007694", "name": "Hairy nose tip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hairy nose tip"], "xref": ["MEDGEN:333893", "MESH:C535619", "OMIM:139630", "UMLS:C1841695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007695", "name": "Hairy palms and soles", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hairy palms and soles"], "xref": ["MEDGEN:330667", "MESH:C535620", "OMIM:139650", "UMLS:C1841694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007696", "name": "Emery-nelson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hand and foot deformity-flat facies syndrome"], "xref": ["GARD:0002593", "MEDGEN:333892", "MESH:C535626", "OMIM:139750", "Orphanet:1927", "UMLS:C1841693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007697", "name": "Hand clasping pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hand clasping pattern"], "xref": ["MEDGEN:330666", "OMIM:139800", "UMLS:C1841692"]}
{"category": ["biolink:Disease"], "description": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.", "id": "MONDO:0007698", "name": "Hand-foot-genital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HFGS", "hand-foot-genital syndrome", "hand-foot-uterus syndrome"], "xref": ["DOID:0060739", "GARD:0002594", "ICD9:759.89", "MEDGEN:331103", "MESH:C535627", "MedDRA:10072361", "OMIM:140000", "Orphanet:2438", "SCTID:702425002", "UMLS:C1841679"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.", "id": "MONDO:0007699", "name": "Hashimoto thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Hashimoto disease", "Hashimoto hypothyroidism", "Hashimoto thyroiditis", "Hashimoto's disease", "Hashimoto's syndrome", "Hashimoto's thyroiditis", "chronic lymphocytic thyroiditis"], "xref": ["DOID:7188", "EFO:0003779", "ICD10CM:E06.3", "ICD9:245.2", "MEDGEN:151769", "MESH:D050031", "NANDO:2200335", "NCIT:C27191", "OMIM:140300", "Orphanet:855", "UMLS:C0677607", "Wikipedia:Hashimoto's_thyroiditis", "icd11.foundation:972507934"]}
{"category": ["biolink:Disease"], "description": "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.", "id": "MONDO:0007700", "name": "Hawkinsinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["4-HPPD deficiency", "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency", "4-hydroxyphenylpyruvic acid dioxygenase deficiency", "hawkinsinuria"], "xref": ["DOID:0111362", "GARD:0005668", "MEDGEN:419319", "MESH:C535845", "OMIM:140350", "Orphanet:2118", "SCTID:414380008", "UMLS:C2931042", "icd11.foundation:786595759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007701", "name": "Progressive familial heart block type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFHB2"], "xref": ["DOID:0111075", "GARD:0004879", "ICD9:426.6", "MEDGEN:333884", "MESH:C564202", "OMIM:140400", "SCTID:698251009", "UMLS:C1841658"]}
{"category": ["biolink:Disease"], "description": "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.", "id": "MONDO:0007702", "name": "Heart-hand syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cardiomelic syndrome type 3", "atriodigital dysplasia type 3", "heart-hand syndrome, Spanish type", "heart-limb syndrome type 3"], "xref": ["GARD:0002614", "MEDGEN:333883", "MESH:C535853", "OMIM:140450", "Orphanet:1342", "SCTID:721013001", "UMLS:C1841657", "icd11.foundation:1878745129"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007705", "name": "Heinz body anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Heinz body anemias, alpha-"], "xref": ["DOID:0111363", "GARD:0010718", "HP:0005511", "MEDGEN:148583", "MESH:C563030", "MedDRA:10002058", "OMIM:140700", "Orphanet:178330", "UMLS:C0700299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007706", "name": "Cavernous hemangiomas of face-supraumbilical midline raphe syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "xref": ["GARD:0008524", "MEDGEN:99171", "MESH:C538144", "OMIM:140850", "Orphanet:2124", "SCTID:234140000", "UMLS:C0472694"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that involves the small intestine.", "id": "MONDO:0007707", "name": "Hemangiomas of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangioma of small intestine", "hemangiomas of small intestine", "small intestine hemangioma"], "xref": ["MEDGEN:331098", "MESH:C564201", "OMIM:140900", "UMLS:C1841654"]}
{"category": ["biolink:Disease"], "description": "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.", "id": "MONDO:0007708", "name": "Kasabach-merritt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kasabach Merritt phenomenon", "Kasabach Merritt syndrome", "Kasabach-Merritt Phenomenon", "Kasabach-Merritt syndrome", "hemangioma-hemorrhage syndrome", "hemangioma-thrombocytopenia syndrome", "hemangiomatosis with thrombocytopenia", "thrombocytopenia-hemangioma syndrome", "thrombopenia-hemangioma syndrome"], "xref": ["GARD:0000070", "ICD9:287.39", "MEDGEN:65122", "MESH:D059885", "MedDRA:10058423", "NANDO:2100297", "NANDO:2201035", "NCIT:C3821", "NORD:1320", "OMIM:141000", "Orphanet:2330", "SCTID:86635005", "UMLS:C0221025", "icd11.foundation:2059601885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007709", "name": "Hematuria, benign familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:141200"]}
{"category": ["biolink:Disease"], "description": "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.", "id": "MONDO:0007710", "name": "Facial hemiatrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Romberg syndrome", "hemifacial atrophy", "parry-Romberg syndrome", "progressive facial hemiatrophy", "progressive hemifacial atrophy"], "xref": ["DOID:1757", "GARD:0007338", "MEDGEN:8761", "MESH:D005150", "NCIT:C116916", "OMIM:141300", "Orphanet:1214", "SCTID:718224004", "UMLS:C0015458"]}
{"category": ["biolink:Disease"], "description": "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.", "id": "MONDO:0007711", "name": "Bencze syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bencze syndrome", "hemifacial hyperplasia-strabismus syndrome"], "xref": ["GARD:0002633", "MEDGEN:330655", "MESH:C564199", "OMIM:141350", "Orphanet:1241", "SCTID:733046006", "UMLS:C1841640"]}
{"category": ["biolink:Disease"], "description": "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.", "id": "MONDO:0007712", "name": "Oculoauriculovertebral spectrum with radial defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moeschler-Clarren syndrome", "hemifacial microsomia-radial defects syndrome"], "xref": ["GARD:0003653", "MEDGEN:67392", "OMIM:141400", "Orphanet:2549", "SCTID:726722009", "UMLS:C0220681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007713", "name": "Clonic hemifacial spasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["facial hemispasm", "focal myoclonus of face"], "xref": ["GARD:0017137", "ICD10CM:G51.3", "MEDGEN:374760", "MESH:C564198", "OMIM:141405", "Orphanet:221083", "UMLS:C1841639", "icd11.foundation:353312397", "icd11.foundation:64352031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007715", "name": "Hemolytic poikilocytic anemia due to reduced ankyrin binding sites", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemolytic poikilocytic anemia due to reduced ankyrin binding sites"], "xref": ["MEDGEN:330649", "MESH:C564197", "OMIM:141700", "UMLS:C1841622"]}
{"category": ["biolink:Disease"], "description": "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.", "id": "MONDO:0007716", "name": "Alpha thalassemia-intellectual disability syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATR syndrome linked to chromosome 16", "ATR syndrome, deletion type", "ATR-16 Syndrome", "ATR-16 syndrome", "Alpha thalassemia-intellectual disability syndrome", "Alpha thalassemia-intellectual disability syndrome, deletion type", "Alpha thalassemia-mental retardation syndrome", "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16", "alpha thalassemia-intellectual disability syndrome, deletion type", "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "alpha-thalassemia/intellectual disability syndrome, deletion-type", "alpha-thalassemia/intellectual disability syndrome, type 1", "alpha-thalassemia/mental retardation syndrome, deletion-type"], "xref": ["DECIPHER:65", "DOID:0110029", "GARD:0016862", "ICD9:282.49", "MEDGEN:162892", "MESH:C563050", "NORD:1879", "OMIM:141750", "Orphanet:98791", "SCTID:277918006", "UMLS:C0795917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007717", "name": "Hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:333610", "OMIM:142309", "UMLS:C1840647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007718", "name": "Hepatic adenomas, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hepatic adenoma, somatic", "hepatic adenomas, familial"], "xref": ["DOID:0111366", "GARD:0024570", "MEDGEN:374515", "MESH:C564190", "OMIM:142330", "UMLS:C1840646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007719", "name": "Diaphragmatic hernia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["diaphragmatic hernia, congenital 1", "hernia, congenital diaphragmatic 1"], "xref": ["GARD:0024571", "MEDGEN:327154", "OMIM:142340", "UMLS:C1840643"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007720", "name": "Hernia, double inguinal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hernia, double inguinal"], "xref": ["MEDGEN:163567", "MESH:C563164", "OMIM:142350", "UMLS:C0860251"]}
{"category": ["biolink:Disease"], "description": "Herniation of the upper part of the stomach through the diaphragm.", "id": "MONDO:0007721", "name": "Hiatus hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hiatal hernia", "hiatus hernia", "hiatus hernia (disease)"], "xref": ["DOID:12642", "HP:0002036", "MEDGEN:483347", "MESH:D006551", "NCIT:C98945", "OMIM:142400", "SCTID:84089009", "UMLS:C3489393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007722", "name": "Heterochromia iridis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["heterochromia iridis", "heterochromia iridis (disease)"], "xref": ["HP:0001100", "MEDGEN:98395", "MESH:C538115", "OMIM:142500", "UMLS:C0423318"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007724", "name": "Hirsutism-skeletal dysplasia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Wiedemann-Oldigs-Oppermann syndrome"], "xref": ["GARD:0005566", "MEDGEN:163202", "MESH:C536705", "OMIM:142625", "Orphanet:2156", "UMLS:C0795976"]}
{"category": ["biolink:Disease"], "description": "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.", "id": "MONDO:0007725", "name": "Hereditary progressive mucinous histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016989", "MEDGEN:326771", "MESH:C564186", "OMIM:142630", "Orphanet:158025", "UMLS:C1840586", "icd11.foundation:284196883"]}
{"category": ["biolink:Disease"], "description": "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.", "id": "MONDO:0007726", "name": "Hip dysplasia, beukes type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BFHD", "Beukes familial hip dysplasia", "Cilliers-Beighton syndrome", "hip dysplasia, Beukes type", "premature degenerative osteoarthropathy of the hip"], "xref": ["DOID:0111367", "GARD:0002690", "MEDGEN:333593", "MESH:C564185", "OMIM:142669", "Orphanet:2114", "SCTID:721148005", "UMLS:C1840572"]}
{"category": ["biolink:Disease"], "description": "A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.", "id": "MONDO:0007727", "name": "Tnf receptor 1-associated periodic fever syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHF", "Hibernian fever, familial", "TNF receptor 1-associated periodic fever syndrome", "TNF receptor 1-associated periodic syndrome", "TNF receptor-associated periodic syndrome", "TRAPS", "TRAPS syndrome", "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome", "familial Hibernian fever", "tumor necrosis factor receptor 1 associated periodic syndrome", "tumor necrosis factor receptor 1-associated periodic syndrome", "tumor necrosis factor receptor-associated periodic syndrome", "tumour necrosis factor receptor 1 associated periodic syndrome", "tumour necrosis factor receptor 1-associated periodic syndrome", "tumour necrosis factor receptor-associated periodic syndrome"], "xref": ["DOID:0090018", "GARD:0008457", "MEDGEN:226899", "MESH:C536657", "NANDO:1200472", "NANDO:2200433", "NCIT:C119051", "NORD:1804", "OMIM:142680", "Orphanet:32960", "SCTID:403833009", "UMLS:C1275126", "icd11.foundation:1869883509"]}
{"category": ["biolink:Disease"], "description": "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.", "id": "MONDO:0007728", "name": "Acne inversa, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NCSTN familial acne inversa", "acne inversa, familial, 1", "acne inversa, familial, type 1", "familial acne inversa caused by mutation in NCSTN"], "xref": ["MEDGEN:1631104", "OMIM:142690", "UMLS:C4551962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007729", "name": "Developmental dysplasia of the hip 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:prototype_pattern"], "synonym": ["DDH1", "developmental dysplasia of the hip 1"], "xref": ["DOID:0060931", "MEDGEN:266288", "OMIM:142700", "UMLS:C1306065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007730", "name": "Histiocytic dermatoarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["histiocytic dermatoarthritis"], "xref": ["MEDGEN:327131", "MESH:C564183", "OMIM:142730", "UMLS:C1840551"]}
{"category": ["biolink:Disease"], "description": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.", "id": "MONDO:0007732", "name": "Holt-oram syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HOLT-Oram syndrome", "HOS", "Holt Oram Syndrome", "Holt-Oram syndrome", "atriodigital dysplasia type 1", "heart-hand syndrome type 1"], "xref": ["DOID:0060468", "GARD:0006666", "ICD9:759.89", "MEDGEN:120524", "MESH:C535326", "MedDRA:10050469", "NCIT:C125592", "NORD:1248", "OMIM:142900", "Orphanet:392", "SCTID:19092004", "UMLS:C0265264", "icd11.foundation:1169240278"]}
{"category": ["biolink:Disease"], "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.", "id": "MONDO:0007733", "name": "Holoprosencephaly 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLP3", "HPE3", "SHH holoprosencephaly", "Shh holoprosencephaly", "holoprosencephaly 3", "holoprosencephaly caused by mutation in SHH", "holoprosencephaly caused by mutation in Shh", "holoprosencephaly type 3"], "xref": ["DOID:0110875", "GARD:0024572", "MEDGEN:327125", "MESH:C564181", "OMIM:142945", "UMLS:C1840529"]}
{"category": ["biolink:Disease"], "description": "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.", "id": "MONDO:0007734", "name": "Holoprosencephaly 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE4", "TGIF1 holoprosencephaly", "holoprosencephaly 4", "holoprosencephaly caused by mutation in TGIF1", "holoprosencephaly type 4"], "xref": ["DOID:0110880", "GARD:0024573", "MEDGEN:374488", "MESH:C564180", "NCIT:C75475", "OMIM:142946", "UMLS:C1840528"]}
{"category": ["biolink:Disease"], "description": "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.", "id": "MONDO:0007735", "name": "Congenital horner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital Claude-Bernard-Horner syndrome", "congenital Horner syndrome", "congenital Horner syndrome (disease)"], "xref": ["GARD:0006670", "HP:0006837", "MEDGEN:327111", "MESH:C564178", "OMIM:143000", "Orphanet:91413", "UMLS:C1840475"]}
{"category": ["biolink:Disease"], "description": "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.", "id": "MONDO:0007737", "name": "Humeroradial synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["humero-radial fusion", "humeroradial synostosis", "humeroradial synostosis (disease)"], "xref": ["DOID:0060467", "GARD:0002748", "HP:0003041", "ICD9:755.59", "MEDGEN:418931", "OMIM:143050", "Orphanet:3265", "SCTID:205329008", "UMLS:C2930865", "icd11.foundation:518723993"]}
{"category": ["biolink:Disease"], "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.", "id": "MONDO:0007738", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHST3-related skeletal dysplasia", "Humerospinal dysostosis", "SDCD, CHST3 type", "chondrodysplasia with congenital joint dislocations, CHST3 type", "chondrodysplasia with multiple dislocations", "spondyloepiphyseal dysplasia with congenital joint dislocations", "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type"], "xref": ["DOID:0050813", "GARD:0013169", "ICD9:756.9", "MEDGEN:373381", "MESH:C537283", "OMIM:143095", "Orphanet:263463", "SCTID:702400006", "UMLS:C1837657"]}
{"category": ["biolink:Disease"], "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.", "id": "MONDO:0007739", "name": "Huntington disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HD", "Huntington chorea", "Huntington disease", "Huntington's Disease", "Huntington's chorea", "Huntington's disease"], "xref": ["DOID:12858", "GARD:0006677", "ICD10CM:G10", "ICD10WHO:G10", "ICD9:333.4", "MEDGEN:5654", "MESH:D006816", "MedDRA:10070668", "NANDO:1200012", "NCIT:C82342", "NORD:1256", "OMIM:143100", "Orphanet:399", "SCTID:58756001", "UMLS:C0020179", "icd11.foundation:2132180242"]}
{"category": ["biolink:Disease"], "description": "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.", "id": "MONDO:0007740", "name": "Wagner disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VCAN-related vitreoretinopathy", "Wagner disease", "Wagner syndrome", "dominant hyaloideoretinal dystrophy of Wagner", "vitreoretinal degeneration, Wagner type"], "xref": ["GARD:0007871", "MEDGEN:326741", "MESH:C536075", "MedDRA:10063383", "OMIM:143200", "Orphanet:898", "SCTID:232064001", "UMLS:C1840452", "icd11.foundation:780893571"]}
{"category": ["biolink:Disease"], "description": "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.", "id": "MONDO:0007741", "name": "Congenital hydronephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar"], "xref": ["ICD10CM:Q62.0", "ICD9:753.29", "MEDGEN:78594", "MedDRA:10050975", "NANDO:2200176", "NCIT:C102979", "Orphanet:2190", "SCTID:16297002", "UMLS:C0266316", "icd11.foundation:808343797"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007742", "name": "5-hydroxytryptamine oxygenase regulator", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["5-hydroxytryptamine oxygenase regulator"], "xref": ["MEDGEN:854659", "OMIM:143460", "UMLS:C3887951"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.", "id": "MONDO:0007743", "name": "Attention deficit-hyperactivity disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["attention deficit hyperactivity disorder", "attention deficit-hyperactivity disorder", "attention deficit/hyperactivity disorder"], "xref": ["EFO:0003888", "MEDGEN:220387", "NCIT:C97160", "UMLS:C1263846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007744", "name": "Cholesterol-ester transfer protein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CEPT deficiency", "familial hyperalphalipoproteinemia", "high density lipoprotein cholesterol level QTL 10", "hyperalphalipoproteinemia 1", "hyperalphalipoproteinemia type 1"], "xref": ["DOID:0111369", "GARD:0016724", "MEDGEN:840020", "OMIM:143470", "Orphanet:79506", "SCTID:15771000119109", "UMLS:C3875011"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.", "id": "MONDO:0007745", "name": "Gilbert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gilbert disease", "Gilbert syndrome", "Gilbert's syndrome", "familial cholemia", "hyperbilirubinemia type 1"], "xref": ["DOID:2739", "EFO:0005556", "ICD10CM:E80.4", "MEDGEN:4891", "MESH:D005878", "NCIT:C84729", "OMIM:143500", "Orphanet:357", "SCTID:27503000", "UMLS:C0017551", "icd11.foundation:1947520963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007746", "name": "Orthostatic hypotensive disorder, streeten type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["orthostatic hypotensive disorder of Streeten", "orthostatic hypotensive disorder, Streeten type"], "xref": ["MEDGEN:327101", "MESH:C564174", "OMIM:143850", "UMLS:C1840438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007747", "name": "Isolated hyperchlorhidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperchlorhidrosis, isolated", "isolated hyperchlorhidrosis"], "xref": ["DOID:0111371", "GARD:0017984", "ICD9:276.9", "MEDGEN:333560", "OMIM:143860", "Orphanet:542657", "SCTID:709413001", "UMLS:C1840437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007748", "name": "Hypercalciuria, absorptive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["hypercalciuria, absorptive, 2", "hypercalciuria, absorptive, susceptibility to", "hypercalciuria, absorptive, type 2"], "xref": ["GARD:0018583", "ICD9:V18.19", "MEDGEN:137974", "MESH:C562790", "OMIM:143870", "SCTID:237886009", "UMLS:C0342639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007750", "name": "Hypercholesterolemia, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["FHCL1", "LDL cholesterol level QTL2", "LDL receptor disorder", "hypercholesterolemia, familial", "hypercholesterolemia, familial, 1", "hypercholesterolemia, familial, due to ldlr defect, modifier of", "hypercholesterolemia, familial, modifier of", "hypercholesterolemic xanthomatosis, familial", "hyperlipoproteinemia, type 2", "hyperlipoproteinemia, type 2A"], "xref": ["GARD:0024574", "MEDGEN:152875", "NANDO:2200602", "OMIM:143890", "SCTID:398036000", "UMLS:C0745103"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007751", "name": "Hypercholesterolemia, autosomal dominant, type b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypercholesterolemia, autosomal dominant, type B", "hypercholesterolemia, familial, 2"], "xref": ["GARD:0027779", "MEDGEN:309962", "OMIM:144010", "SCTID:238081000", "UMLS:C1704417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007752", "name": "Hyperheparinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperheparinemia"], "xref": ["ICD9:286.5", "MEDGEN:469019", "MESH:C562723", "OMIM:144050", "SCTID:79674009", "UMLS:C3203346"]}
{"category": ["biolink:Disease"], "description": "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)", "id": "MONDO:0007753", "name": "Frey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baillarger syndrome", "Frey syndrome", "gustatory hyperhidrosis", "gustatory sweating"], "xref": ["DOID:11599", "EFO:1000940", "GARD:0027052", "MEDGEN:21041", "MESH:D013547", "OMIM:144100", "Orphanet:662240", "SCTID:238758008", "UMLS:C0038994"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007754", "name": "Hyperhidrosis palmaris et plantaris", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HYPRPP", "hyperhidrosis palmaris ET plantaris"], "xref": ["MEDGEN:224808", "MESH:C563185", "OMIM:144110", "UMLS:C1274743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007755", "name": "Hyperimmunoglobulin g1(a1) syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperimmunoglobulin G1 syndrome", "hyperimmunoglobulin G1(A1) syndrome"], "xref": ["MEDGEN:374465", "MESH:C564173", "OMIM:144120", "UMLS:C1840429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007756", "name": "Hyperkeratosis lenticularis perstans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Flegel disease", "hyperkeratosis lenticularis perstans", "hyperkeratosis lenticularis perstans (disease)"], "xref": ["GARD:0002824", "HP:0007570", "MEDGEN:120477", "MESH:C538377", "MedDRA:10071311", "OMIM:144150", "Orphanet:409", "SCTID:28488007", "UMLS:C0263420"]}
{"category": ["biolink:Disease"], "description": "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0007757", "name": "Hyperkeratosis-hyperpigmentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperkeratosis-hyperpigmentation syndrome"], "xref": ["GARD:0016563", "MEDGEN:326735", "MESH:C564172", "OMIM:144190", "Orphanet:1336", "UMLS:C1840428"]}
{"category": ["biolink:Disease"], "description": "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.", "id": "MONDO:0007758", "name": "Epidermolytic palmoplantar keratoderma, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPPK", "diffuse erythrodermic palmoplantar keratoderma, VC6rner type", "diffuse erythrodermic palmoplantar keratoderma, Voerner type", "epidermolytic palmoplantar keratoderma of VC6rner", "epidermolytic palmoplantar keratoderma of Voerner"], "xref": ["DOID:0070552", "GARD:0002826", "ICD9:757.39", "NCIT:C84693", "OMIM:144200", "Orphanet:2199", "SCTID:399955009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007759", "name": "Hyperlipidemia, familial combined, lpl related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["combined hyperlipidemia, familial"], "xref": ["GARD:0015077", "MEDGEN:6965", "OMIM:144250", "UMLS:C0020474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007760", "name": "Hyperlipoproteinemia, type ii, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperlipoproteinemia, type II, and deafness"], "xref": ["MEDGEN:326732", "MESH:C564170", "OMIM:144300", "UMLS:C1840425"]}
{"category": ["biolink:Disease"], "description": "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.", "id": "MONDO:0007762", "name": "Hyperlipoproteinemia type v", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HLP type 5", "familial APOA5 deficiency", "familial apolipoprotein A-V deficiency", "familial apolipoprotein A5 deficiency", "major hyperlipidemia"], "xref": ["DOID:0111421", "DOID:1171", "GARD:0006704", "MEDGEN:5693", "MESH:D006954", "MedDRA:10060755", "OMIM:144650", "Orphanet:530849", "Orphanet:70470", "SCTID:34349009", "UMLS:C0020481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007763", "name": "Nonpapillary renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["renal carcinoma, chromophobe, somatic", "renal cell carcinoma, clear cell", "renal cell carcinoma, clear cell, somatic", "renal cell carcinoma, somatic"], "xref": ["DOID:0050387", "GARD:0024575", "OMIM:144700"]}
{"category": ["biolink:Disease"], "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.", "id": "MONDO:0007764", "name": "Autosomal dominant osteosclerosis, worth type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ostéosclérose autosomique dominante type Worth", "Worth syndrome", "Worth's syndrome", "endosteal hyperostosis, Worth type", "hyperostosis, endosteal"], "xref": ["DOID:0080037", "GARD:0000390", "MEDGEN:140932", "OMIM:144750", "OMIM:607636", "Orphanet:2790", "SCTID:254131007", "UMLS:C0432273", "icd11.foundation:1038854228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007765", "name": "Hyperostosis cranialis interna", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperostosis cranalis interna", "hyperostosis cranialis interna", "hyperostosis cranialis interna (disease)"], "xref": ["GARD:0017753", "HP:0005890", "MEDGEN:327093", "MESH:C564168", "OMIM:144755", "Orphanet:443098", "UMLS:C1840404"]}
{"category": ["biolink:Disease"], "description": "Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.", "id": "MONDO:0007766", "name": "Morgagni-stewart-morel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hyperostosis Frontalis Interna", "Morgagni-Stewart-Morel syndrome", "hyperostosis frontalis interna"], "xref": ["GARD:0008593", "MEDGEN:9367", "MESH:D006957", "NCIT:C84772", "NORD:1268", "OMIM:144800", "Orphanet:77296", "SCTID:82054006", "UMLS:C0020494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007767", "name": "Hyperparathyroidism 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["hyperparathyroidism 1", "hyperparathyroidism type 1", "hyperparathyroidism, familial primary"], "xref": ["GARD:0018253", "MEDGEN:333554", "MESH:C564166", "OMIM:145000", "UMLS:C1840402"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.", "id": "MONDO:0007768", "name": "Hyperparathyroidism 2 with jaw tumors", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HPT-JT", "hyperparathyroidism 2 with jaw tumors", "hyperparathyroidism type 2", "hyperparathyroidism-2", "hyperparathyroidism-jaw tumor syndrome", "hyperparathyroidism-jaw tumour syndrome", "parathyroid adenoma with cystic changes"], "xref": ["GARD:0010829", "MEDGEN:310065", "NCIT:C48287", "OMIM:145001", "Orphanet:99880", "SCTID:702378002", "UMLS:C1704981"]}
{"category": ["biolink:Disease"], "description": "Over-production of pigment in the eyelid.", "id": "MONDO:0007769", "name": "Hyperpigmentation of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:10122", "ICD9:374.52", "MEDGEN:56358", "MESH:C562400", "OMIM:145100", "SCTID:41115008", "UMLS:C0155211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007770", "name": "Hyperpigmentation of fuldauer and kuijpers", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperpigmentation of Fuldauer and Kuijpers"], "xref": ["MEDGEN:327090", "MESH:C564164", "OMIM:145200", "UMLS:C1840393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007771", "name": "Hyperpigmentation with or without hypopigmentation, familial progressive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperpigmentation with or without hypopigmentation", "hyperpigmentation with or without hypopigmentation, familial progressive", "macules, hereditary congenital hypopigmented and hyperpigmented", "melanosis, universal"], "xref": ["DOID:0111373", "GARD:0018073", "MEDGEN:333550", "OMIM:145250", "UMLS:C1840392"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007772", "name": "Pseudohypoaldosteronism type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHA2A"], "xref": ["GARD:0016775", "MEDGEN:327088", "OMIM:145260", "Orphanet:88938", "SCTID:703254001", "UMLS:C1840389", "icd11.foundation:646091849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007773", "name": "Hyperproglucagonemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperproglucagonemia"], "xref": ["MEDGEN:326726", "MESH:C564159", "OMIM:145270", "UMLS:C1840388"]}
{"category": ["biolink:Disease"], "description": "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.", "id": "MONDO:0007774", "name": "Hyperreflexia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperreflexia", "hyperreflexia (disease)"], "xref": ["HP:0001347", "MEDGEN:57738", "MESH:D012021", "OMIM:145290", "UMLS:C0151889", "icd11.foundation:514864448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007775", "name": "Hypersecretion of adrenal androgens, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypersecretion of adrenal androgens, familial"], "xref": ["MEDGEN:326725", "MESH:C536845", "OMIM:145295", "UMLS:C1840387"]}
{"category": ["biolink:Disease"], "description": "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007776", "name": "Hypersensitivity pneumonitis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hypersensitivity pneumonitis", "hypersensitivity pneumonitis, familial"], "xref": ["GARD:0008240", "MEDGEN:326724", "MESH:C536846", "OMIM:145300", "UMLS:C1840386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007777", "name": "Hypotaurinemic retinal degeneration and cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypotaurinemic retinal degeneration and cardiomyopathy"], "xref": ["MEDGEN:1779589", "MESH:C564157", "OMIM:145350", "UMLS:C5542181"]}
{"category": ["biolink:Disease"], "description": "An instance of essential hypertension that is caused by a modification of the individual's genome.", "id": "MONDO:0007781", "name": "Essential hypertension, genetic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:susceptibility_mondo"], "synonym": ["blood pressure regulation QTL", "genetic essential hypertension", "hypertension, essential, salt-sensitive"], "xref": ["OMIM:145500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007782", "name": "Hyperthermia, cutaneous, with headaches and nausea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperthermia, cutaneous, with headaches and nausea"], "xref": ["MEDGEN:374453", "MESH:C564156", "OMIM:145590", "UMLS:C1840373"]}
{"category": ["biolink:Disease"], "description": "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.", "id": "MONDO:0007784", "name": "Selective pituitary resistance to thyroid hormone", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRTH"], "xref": ["DOID:0111374", "GARD:0024576", "MEDGEN:333543", "MESH:C564154", "OMIM:145650", "Orphanet:165994", "UMLS:C1840364", "icd11.foundation:482664523"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007785", "name": "Hyperthyroxinemia, dystransthyretinemic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperthyroxinemia, dystransthyretinemic"], "xref": ["DOID:0080219", "MEDGEN:442573", "MESH:C567719", "OMIM:145680", "UMLS:C2750824"]}
{"category": ["biolink:Disease"], "description": "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.", "id": "MONDO:0007787", "name": "Ambras type hypertrichosis universalis congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Ambras syndrome", "HTC1"], "xref": ["DOID:0111060", "GARD:0008206", "MEDGEN:333542", "OMIM:145701", "Orphanet:1023", "UMLS:C1840362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007788", "name": "Hypertriglyceridemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["hypertriglyceridemia, familial"], "xref": ["GARD:0024577", "MEDGEN:1787149", "OMIM:145750", "SCTID:34528009", "UMLS:C5444012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007789", "name": "Hypertrophia musculorum vera", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertrophia musculorum vera"], "xref": ["MEDGEN:374451", "MESH:C564152", "OMIM:145800", "UMLS:C1840361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007790", "name": "Charcot-marie-tooth disease type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT3", "Charcot-Marie-Tooth disease type 3", "Charcot-Marie-Tooth disease, type 3", "Dejerine-Sottas Syndrome", "Dejerine-Sottas neuropathy", "Dejerine-Sottas syndrome", "HMSN 3", "HMSN III", "HMSN3", "dejerine-sottas disease", "hereditary motor and sensory neuropathy type 3", "hereditary motor and sensory neuropathy type III", "hypertrophic neuropathy of Dejerine-Sottas"], "xref": ["DOID:0050540", "GARD:0009204", "MEDGEN:3710", "NCIT:C133087", "NORD:1037", "OMIM:145900", "Orphanet:64748", "SCTID:111499002", "UMLS:C0011195"]}
{"category": ["biolink:Disease"], "description": "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.", "id": "MONDO:0007791", "name": "Familial hypocalciuric hypercalcemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CASR familial hypocalciuric hypercalcemia", "FHH type 1", "HHC1", "familial benign hypercalcemia 1", "familial hypocalciuric hypercalcemia caused by mutation in CASR", "familial hypocalciuric hypercalcemia type 1", "hpocalciuric hypercalcemia, type I"], "xref": ["DOID:0060700", "GARD:0002796", "MEDGEN:137973", "MESH:C537145", "MedDRA:10068704", "OMIM:145980", "Orphanet:93372", "SCTID:704166007", "UMLS:C0342637"]}
{"category": ["biolink:Disease"], "description": "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.", "id": "MONDO:0007792", "name": "Familial hypocalciuric hypercalcemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FHH type 2", "HHC2", "familial hypocalciuric hypercalcemia type 2", "hpocalciuric hypercalcemia, type II"], "xref": ["DOID:0060701", "GARD:0009758", "MEDGEN:374447", "MESH:C537146", "OMIM:145981", "Orphanet:101049", "UMLS:C1840347"]}
{"category": ["biolink:Disease"], "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.", "id": "MONDO:0007793", "name": "Hypochondroplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypochondroplasia"], "xref": ["DOID:0080041", "GARD:0006724", "ICD9:756.9", "MEDGEN:98376", "MESH:C562937", "MedDRA:10020967", "NANDO:2201010", "NCIT:C118697", "NORD:1271", "OMIM:146000", "Orphanet:429", "SCTID:205468002", "UMLS:C0410529", "icd11.foundation:1930265486"]}
{"category": ["biolink:Disease"], "description": "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "id": "MONDO:0007794", "name": "Hypogonadotropic hypogonadism 7 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypogonadotropic hypogonadism 7 with or without anosmia", "hypogonadotropic hypogonadism 7 without anosmia"], "xref": ["DOID:0090078", "GARD:0002897", "ICD9:253.4", "MEDGEN:87440", "MESH:C562785", "NANDO:1200382", "OMIM:146110", "SCTID:123953004", "UMLS:C0342384"]}
{"category": ["biolink:Disease"], "description": "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.", "id": "MONDO:0007795", "name": "Mullerian duct anomalies-limb anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002908", "MEDGEN:327078", "MESH:C537155", "OMIM:146160", "Orphanet:2491", "UMLS:C1840335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007796", "name": "Hypoparathyroidism, familial isolated 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FIH1", "hypoparathyroidism, familial isolated 1"], "xref": ["DOID:0061150", "GARD:0024578", "MEDGEN:1713884", "OMIM:146200", "SCTID:237657009", "UMLS:C5241444"]}
{"category": ["biolink:Disease"], "description": "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.", "id": "MONDO:0007797", "name": "Hypoparathyroidism-deafness-renal disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Barakat Syndrome", "Barakat syndrome", "HDR syndrome", "hypoparathyroidism, deafness, and renal anomalies syndrome", "hypoparathyroidism, sensorineural deafness, and renal disease", "hypoparathyroidism-deafness-renal disease syndrome"], "xref": ["DOID:0060878", "GARD:0002911", "MEDGEN:374443", "MESH:C537907", "NCIT:C130983", "NORD:837", "OMIM:146255", "Orphanet:2237", "SCTID:724282009", "UMLS:C1840333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007799", "name": "Hypophosphatemic bone disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypophosphatemic bone disease"], "xref": ["MEDGEN:333534", "MESH:C564145", "OMIM:146350", "UMLS:C1840321"]}
{"category": ["biolink:Disease"], "description": "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.", "id": "MONDO:0007800", "name": "Chromosome 18p deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["18p syndrome", "18p-", "chromosome 18p deletion", "chromosome 18p deletion syndrome", "deletion 18p syndrome", "monosomy type 18p", "partial deletion of chromosome 18p", "partial deletion of the short arm of chromosome 18", "partial deletion of the short arm of chromosome type 18", "partial monosomy of chromosome 18p", "partial monosomy of the short arm of chromosome 18"], "xref": ["DOID:0060406", "GARD:0020818", "ICD9:758.39", "MEDGEN:96604", "MESH:C538309", "NCIT:C84521", "OMIM:146390", "Orphanet:1598", "Orphanet:261974", "SCTID:270890001", "UMLS:C0432442", "icd11.foundation:121037615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007802", "name": "Hypospadias 3, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypospadias 3, autosomal", "hypospadias 3, autosomal, multifactorial"], "xref": ["GARD:0018184", "MEDGEN:382538", "MESH:C567191", "OMIM:146450", "UMLS:C2675154"]}
{"category": ["biolink:Disease"], "description": "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.", "id": "MONDO:0007803", "name": "Multiple system atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSA", "Shy-Drager syndrome", "multisystem atrophy"], "xref": ["DOID:4752", "EFO:1001050", "GARD:0007079", "MEDGEN:98276", "MESH:D019578", "MedDRA:10064060", "NANDO:1200034", "NCIT:C84909", "NORD:1472", "Orphanet:102", "UMLS:C0393571", "icd11.foundation:1890931931"]}
{"category": ["biolink:Disease"], "description": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.", "id": "MONDO:0007804", "name": "Pallister-hall syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHS", "Pallister Hall syndrome", "Pallister-Hall syndrome", "ano-cerebro-digital syndrome", "hypothalamic hamartoblastoma syndrome", "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly"], "xref": ["DOID:9248", "GARD:0007305", "ICD9:759.89", "MEDGEN:120514", "MESH:D054975", "NCIT:C84987", "NORD:1545", "OMIM:146510", "Orphanet:672", "SCTID:56677004", "UMLS:C0265220", "icd11.foundation:1845613381"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.", "id": "MONDO:0007805", "name": "Hypotrichosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDSN hypotrichosis", "HYPT2", "hypotrichosis 2", "hypotrichosis caused by mutation in CDSN", "hypotrichosis simplex of the scalp 1", "hypotrichosis type 2", "hypt2"], "xref": ["DOID:0110699", "GARD:0018093", "MEDGEN:374435", "MESH:C564143", "OMIM:146520", "UMLS:C1840299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007807", "name": "Hypoxanthine guanine phosphoribosyltransferase suppressor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypoxanthine guanine phosphoribosyltransferase suppressor"], "xref": ["MEDGEN:326701", "OMIM:146580", "UMLS:C1840297"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).", "id": "MONDO:0007808", "name": "Ichthyosis hystrix of curth-macklin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Curth-Macklin type ichthyosis hystrix", "IHCM", "Ichthyosis Hystrix, Curth Macklin Type", "ichthyosis HYSTRIX, Curth-Macklin type", "ichthyosis histrix, curth-macklin type", "ichthyosis hystrix, Curth Macklin type", "ichthyosis hystrix, Curth-Macklin type"], "xref": ["GARD:0002954", "ICD9:757.39", "MEDGEN:326700", "MESH:C536088", "NORD:1281", "OMIM:146590", "Orphanet:79503", "SCTID:254170001", "UMLS:C1840296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007809", "name": "Ichthyosis histrix, lambert type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ichthyosis hystrix gravior", "ichthyosis, Lambert type"], "xref": ["GARD:0009497", "ICD9:757.39", "MEDGEN:98487", "MESH:C536087", "OMIM:146600", "Orphanet:79504", "SCTID:254174005", "UMLS:C0432311"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.", "id": "MONDO:0007810", "name": "Autosomal dominant ichthyosis vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autosomal dominant ichthyosis vulgaris", "ichthyosis vulgaris, autosomal dominant"], "xref": ["DOID:1702", "GARD:0027780", "ICD10CM:Q80.0", "MEDGEN:609440", "OMIM:146700", "Orphanet:462", "SCTID:254157005", "UMLS:C0432300"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.", "id": "MONDO:0007811", "name": "Ichthyosis-cheek-eyebrow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Sidransky-Feinstein-Goodman syndrome"], "xref": ["MEDGEN:326697", "MESH:C536084", "OMIM:146720", "Orphanet:2267", "SCTID:716097001", "UMLS:C1840283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007812", "name": "Ichthyosis, lamellar, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ichthyosis, lamellar, autosomal dominant"], "xref": ["GARD:0009735", "MEDGEN:98486", "MESH:C537263", "OMIM:146750", "SCTID:254164007", "UMLS:C0432304"]}
{"category": ["biolink:Disease"], "description": "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.", "id": "MONDO:0007813", "name": "Superficial epidermolytic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEI", "ichthyosis bullosa of Siemens", "superficial epidermolytic ichthyosis"], "xref": ["DOID:0060877", "GARD:0002966", "MEDGEN:98153", "MESH:D053560", "NANDO:1200613", "NANDO:2200990", "NCIT:C84777", "OMIM:146800", "Orphanet:455", "SCTID:254169002", "UMLS:C0432306", "icd11.foundation:842172475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007814", "name": "Immune deficiency, familial variable", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["immune deficiency, familial variable"], "xref": ["GARD:0002984", "MEDGEN:374426", "MESH:C564136", "OMIM:146830", "UMLS:C1840266"]}
{"category": ["biolink:Disease"], "description": "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.", "id": "MONDO:0007817", "name": "Ige responsiveness, atopic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IgE responsiveness, atopic", "IgE, elevated level of", "immediate hypersensitivity", "type 1 hypersensitivity", "type 1 hypersensitivity reaction", "type I hypersensitivity", "type I hypersensitivity reaction", "type I immediate hypersensitivity reaction"], "xref": ["MEDGEN:327063", "MESH:C564133", "NCIT:C3116", "OMIM:147050", "UMLS:C1840253"]}
{"category": ["biolink:Disease"], "description": "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.", "id": "MONDO:0007818", "name": "Hyper-ige recurrent infection syndrome 1, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AD hyperimmunoglobulin E syndrome", "AD-HIES", "Buckley syndrome", "HIES autosomal dominant", "HIES, autosomal dominant", "JOB syndrome", "Job syndrome autosomal dominant", "Job's syndrome", "STAT3 deficiency", "autosomal dominant HIES", "autosomal dominant hyper IgE syndrome", "autosomal dominant hyper-IgE syndrome", "autosomal dominant hyperimmunoglobulin E syndrome", "hyper Ig E syndrome, autosomal dominant", "hyper-IgE recurrent infection syndrome, autosomal dominant", "hyper-IgE syndrome, autosomal dominant", "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant", "hyperimmunoglobulin E syndrome type 1", "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist"], "xref": ["DOID:3261", "GARD:0006800", "MEDGEN:445391", "MESH:C564135", "MESH:C567925", "NCIT:C126342", "OMIM:146840", "OMIM:147060", "Orphanet:2314", "SCTID:50926003", "UMLS:C2936739"]}
{"category": ["biolink:Disease"], "description": "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.", "id": "MONDO:0007819", "name": "Solitary median maxillary central incisor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMMCI", "single median maxillary central incisor", "single upper central incisor", "solitary median maxillary central incisor syndrome"], "xref": ["GARD:0004877", "MEDGEN:326686", "MESH:C537342", "OMIM:147250", "Orphanet:2286", "SCTID:707609006", "UMLS:C1840235", "icd11.foundation:1834868112"]}
{"category": ["biolink:Disease"], "description": "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.", "id": "MONDO:0007820", "name": "Fused mandibular incisors", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002419", "MEDGEN:488128", "OMIM:147251", "Orphanet:2287", "SCTID:707796002", "UMLS:C3494175", "icd11.foundation:1109888650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007824", "name": "Incisors, lower central, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["incisors, lower central, absence of"], "xref": ["MEDGEN:333512", "OMIM:147330", "UMLS:C1840225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007825", "name": "Incisors, rotation of upper central", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["incisors, rotation of upper central"], "xref": ["MEDGEN:374416", "OMIM:147350", "UMLS:C1840224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007826", "name": "Incisors, shovel-shaped", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["incisors, shovel-shaped"], "xref": ["MEDGEN:278058", "OMIM:147400", "UMLS:C1409763"]}
{"category": ["biolink:Disease"], "description": "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.", "id": "MONDO:0007827", "name": "Inclusion body myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IBM", "Sporadic Inclusion Body Myositis", "inclusion body myositis", "sIBM", "sporadic inclusion body myositis"], "xref": ["DOID:3429", "EFO:0007323", "GARD:0003896", "ICD10CM:G72.41", "ICD9:359.71", "ICD9:729.1", "MEDGEN:68659", "MESH:D018979", "MedDRA:10066407", "NANDO:1200032", "NANDO:1200218", "NCIT:C84786", "NORD:1734", "OMIM:147421", "Orphanet:611", "SCTID:72315009", "UMLS:C0238190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007829", "name": "Cholestasis, intrahepatic, of pregnancy, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cholestasis, intrahepatic, of pregnancy, 1", "cholestasis, intrahepatic, of pregnancy, type 1"], "xref": ["DOID:0070228", "GARD:0015079", "MEDGEN:762759", "OMIM:147480", "UMLS:C3549845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007830", "name": "Insensitivity to pain with hyperplastic myelinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["insensitivity to pain with hyperplastic Myelinopathy"], "xref": ["MEDGEN:327046", "OMIM:147530", "UMLS:C1840172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007831", "name": "Insect stings, hypersensitivity to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["insect Stings, hypersensitivity to"], "xref": ["MEDGEN:327045", "OMIM:147540", "UMLS:C1840171"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007832", "name": "Interferon antiviral depressor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["interferon antiviral depressor"], "xref": ["MEDGEN:333493", "OMIM:147560", "UMLS:C1840150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007833", "name": "Iris pigment layer, cleavage of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iris pigment layer, cleavage of"], "xref": ["MEDGEN:326664", "OMIM:147610", "UMLS:C1840140"]}
{"category": ["biolink:Disease"], "description": "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.", "id": "MONDO:0007834", "name": "Islet cell adenomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["islet cell adenomatosis"], "xref": ["MEDGEN:293643", "MESH:C563258", "NCIT:C4375", "OMIM:147630", "SCTID:274944000", "UMLS:C1578917"]}
{"category": ["biolink:Disease"], "description": "Telescoping or invagination of a part of the intestine into an adjacent segment.", "id": "MONDO:0007835", "name": "Intussusception", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intussusception", "intussusception (morphologic abnormality)"], "xref": ["DOID:8446", "ICD10CM:K56.1", "ICD9:560.0", "MEDGEN:43940", "MESH:D007443", "OMIM:147710", "SCTID:49723003", "UMLS:C0021933"]}
{"category": ["biolink:Disease"], "description": "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.", "id": "MONDO:0007836", "name": "Ivic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IVIC syndrome", "oculo-oto-radial syndrome", "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"], "xref": ["DOID:0111381", "GARD:0000269", "MEDGEN:233003", "MESH:C535544", "OMIM:147750", "Orphanet:2307", "SCTID:722019000", "UMLS:C1327918"]}
{"category": ["biolink:Disease"], "description": "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.", "id": "MONDO:0007837", "name": "Johnson neuroectodermal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Johnson neuroectodermal syndrome", "Johnson-McMillin syndrome", "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome", "alopecia-anosmia-deafness-hypogonadism syndrome"], "xref": ["GARD:0000378", "MEDGEN:167092", "MESH:C535882", "OMIM:147770", "Orphanet:2316", "SCTID:721584005", "UMLS:C0796002", "icd11.foundation:1480597785"]}
{"category": ["biolink:Disease"], "description": "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.", "id": "MONDO:0007838", "name": "Jacobsen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["11q terminal deletion disorder", "Del(11)(q23.3)", "Del(11)(qter)", "Jacobsen syndrome", "Jacobsen syndrome, Isolated cases", "distal deletion 11q", "distal monosomy 11q", "monosomy 11qter", "telomeric deletion 11q"], "xref": ["DOID:0111723", "GARD:0000307", "MEDGEN:162878", "NCIT:C75457", "OMIM:147791", "Orphanet:2308", "SCTID:715438008", "UMLS:C0795841", "icd11.foundation:27788176"]}
{"category": ["biolink:Disease"], "description": "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.", "id": "MONDO:0007839", "name": "Aase-smith syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aase-Smith I syndrome", "Aase-Smith syndrome", "Aase-Smith syndrome type 1", "hydrocephalus-cleft palate-joint contractures syndrome"], "xref": ["GARD:0005642", "MEDGEN:66316", "MESH:C535332", "MedDRA:10063429", "OMIM:147800", "Orphanet:916", "SCTID:718576001", "UMLS:C0220686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007840", "name": "Internal carotid artery, spontaneous dissection of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["internal carotid artery, spontaneous dissection of"], "xref": ["MEDGEN:333477", "MESH:C564125", "OMIM:147820", "UMLS:C1840073"]}
{"category": ["biolink:Disease"], "description": "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.", "id": "MONDO:0007841", "name": "Coxopodopatellar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Scott-Taor syndrome", "coxopodopatellar syndrome", "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension", "ischiopatellar dysplasia", "small patella syndrome"], "xref": ["DOID:0111382", "GARD:0003030", "MEDGEN:333474", "MESH:C535540", "OMIM:147891", "Orphanet:1509", "SCTID:720752007", "UMLS:C1840061", "icd11.foundation:794154672"]}
{"category": ["biolink:Disease"], "description": "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.", "id": "MONDO:0007842", "name": "Joint laxity, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS XI", "Ehlers-Danlos syndrome type 11, formerly", "Joint instability syndrome", "familial joint instability syndrome", "familial joint laxity", "joint laxity, familial"], "xref": ["GARD:0003054", "MEDGEN:120629", "MESH:C535884", "OMIM:147900", "Orphanet:2295", "SCTID:71322004", "UMLS:C0268349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007843", "name": "Kabuki syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Kabuki syndrome 1", "Kabuki syndrome type 1"], "xref": ["GARD:0024579", "OMIM:147920"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.", "id": "MONDO:0007844", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FGFR1 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 2 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in FGFR1"], "xref": ["DOID:0090083", "GARD:0003070", "MEDGEN:289648", "OMIM:147950", "UMLS:C1563720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007845", "name": "Kaposi sarcoma, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["Kaposi sarcoma, susceptibility to"], "xref": ["GARD:0027781", "MEDGEN:761233", "OMIM:148000", "UMLS:C3538945"]}
{"category": ["biolink:Disease"], "description": "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.", "id": "MONDO:0007846", "name": "Kbg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KBG syndrome", "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"], "xref": ["DOID:14780", "GARD:0000082", "ICD9:759.89", "MEDGEN:66317", "MESH:C537015", "NORD:1322", "OMIM:148050", "Orphanet:2332", "SCTID:711156009", "UMLS:C0220687", "icd11.foundation:465550090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007847", "name": "Keloid formation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["keloid formation"], "xref": ["MEDGEN:460844", "OMIM:148100", "UMLS:C3149494"]}
{"category": ["biolink:Disease"], "description": "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.", "id": "MONDO:0007848", "name": "Autosomal dominant keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary keratitis", "keratitis, autosomal dominant"], "xref": ["DOID:0111383", "GARD:0003089", "MEDGEN:332039", "MESH:C537022", "OMIM:148190", "Orphanet:2334", "SCTID:715339004", "UMLS:C1835698", "icd11.foundation:682617640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007849", "name": "Keratitis fugax hereditaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["keratitis fugax hereditaria", "keratoendotheliitis fugax hereditaria", "keratoendothelitis fugax hereditaria"], "xref": ["GARD:0024580", "MEDGEN:372107", "MESH:C563650", "OMIM:148200", "Orphanet:647815", "UMLS:C1835697"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of KID syndrome.", "id": "MONDO:0007850", "name": "Autosomal dominant keratitis-ichthyosis-hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KID syndrome, autosomal dominant"], "xref": ["DOID:0060871", "GARD:0024581", "MEDGEN:120536", "OMIM:148210", "UMLS:C0265336"]}
{"category": ["biolink:Disease"], "description": "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.", "id": "MONDO:0007851", "name": "Keratoconus 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["VSX1 keratoconus (disease)", "keratoconus (disease) caused by mutation in VSX1", "keratoconus 1", "keratoconus type 1"], "xref": ["GARD:0024582", "MEDGEN:372103", "MESH:C563649", "OMIM:148300", "UMLS:C1835677"]}
{"category": ["biolink:Disease"], "description": "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.", "id": "MONDO:0007852", "name": "Palmoplantar keratoderma-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPK-deafness syndrome", "palmoplantar hyperkeratosis-deafness syndrome", "palmoplantar hyperkeratosis-hearing loss syndrome", "palmoplantar keratoderma and sensorineural deafness", "palmoplantar keratoderma-hearing loss syndrome"], "xref": ["DOID:0111505", "GARD:0003094", "MEDGEN:332030", "MESH:C536152", "OMIM:148350", "Orphanet:2202", "UMLS:C1835672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007853", "name": "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy"], "xref": ["GARD:0017977", "MEDGEN:322722", "MESH:C536153", "OMIM:148360", "Orphanet:538574", "UMLS:C1835671"]}
{"category": ["biolink:Disease"], "description": "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.", "id": "MONDO:0007854", "name": "Keratolytic winter erythema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Erythrokeratolysis hiemalis", "Oudtshoorn disease", "keratolytic winter erythema"], "xref": ["GARD:0008275", "ICD9:695.89", "MEDGEN:98359", "MESH:C536155", "NORD:1286", "OMIM:148370", "Orphanet:50943", "SCTID:239064000", "UMLS:C0406756", "icd11.foundation:1491245207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007855", "name": "Keratosis, familial actinic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["keratosis, familial actinic"], "xref": ["MEDGEN:390709", "MESH:C567190", "OMIM:148390", "UMLS:C2675099"]}
{"category": ["biolink:Disease"], "description": "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.", "id": "MONDO:0007856", "name": "Howell-Evans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bennion-Patterson syndrome", "Howell-Evans syndrome", "keratosis palmoplantaris-esophageal carcinoma syndrome", "palmoplantar hyperkeratosis-esophageal carcinoma syndrome", "palmoplantar keratoderma-esophageal carcinoma syndrome", "tylosis-oesophageal carcinoma syndrome"], "xref": ["DOID:0111506", "GARD:0003102", "MEDGEN:324338", "MESH:C536164", "OMIM:148500", "Orphanet:2198", "SCTID:111030006", "UMLS:C1835664"]}
{"category": ["biolink:Disease"], "description": "Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.", "id": "MONDO:0007857", "name": "Keratosis palmaris et plantaris-clinodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["palmoplantar keratoderma-clinodactyly syndrome"], "xref": ["GARD:0016766", "MEDGEN:320656", "MESH:C563646", "OMIM:148520", "Orphanet:86919", "UMLS:C1835663"]}
{"category": ["biolink:Disease"], "description": "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.", "id": "MONDO:0007858", "name": "Palmoplantar keratoderma, punctate type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAGAB punctate palmoplantar keratoderma", "keratoderma, palmoplantar, punctate type IA", "palmoplantar keratoderma, punctate type 1A", "punctate palmoplantar keratoderma caused by mutation in AAGAB"], "xref": ["DOID:0080214", "GARD:0015081", "OMIM:148600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007859", "name": "Palmoplantar keratoderma i, striate, focal, or diffuse", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["keratosis palmoplantaris striata i, AD", "palmoplantar keratoderma i, striate, focal, or diffuse"], "xref": ["DOID:0081108", "GARD:0009172", "MEDGEN:419717", "MESH:C536162", "OMIM:148700", "UMLS:C2931122"]}
{"category": ["biolink:Disease"], "description": "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.", "id": "MONDO:0007860", "name": "Focal palmoplantar and gingival keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["focal palmoplantar and gingival hyperkeratosis"], "xref": ["DOID:0070553", "GARD:0003098", "MEDGEN:372097", "MESH:C536157", "OMIM:148730", "Orphanet:2200", "SCTID:764963007", "UMLS:C1835650"]}
{"category": ["biolink:Disease"], "description": "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.", "id": "MONDO:0007861", "name": "Isolated cloverleaf skull syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["isolated cloverleaf skull syndrome"], "xref": ["GARD:0003115", "MEDGEN:98141", "MESH:C536884", "OMIM:148800", "Orphanet:2343", "SCTID:254022009", "UMLS:C0432126"]}
{"category": ["biolink:Disease"], "description": "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.", "id": "MONDO:0007862", "name": "Waardenburg syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Klein-Waardenburg syndrome", "WS3", "Waardenburg syndrome type III", "Waardenburg syndrome with limb anomalies", "Waardenburg syndrome with upper limb anomalies"], "xref": ["DOID:0110949", "GARD:0005523", "MEDGEN:86948", "OMIM:148820", "Orphanet:896", "UMLS:C0079661", "icd11.foundation:847608197"]}
{"category": ["biolink:Disease"], "description": "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.", "id": "MONDO:0007863", "name": "Kleine-levin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kleine-Levin syndrome"], "xref": ["DOID:0060165", "EFO:1001354", "GARD:0003117", "MEDGEN:61511", "MESH:D017593", "MedDRA:10053712", "NCIT:C84800", "NORD:1334", "OMIM:148840", "Orphanet:33543", "SCTID:111488004", "UMLS:C0206085", "icd11.foundation:1180849398"]}
{"category": ["biolink:Disease"], "description": "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.", "id": "MONDO:0007864", "name": "Angioosteohypertrophic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Klippel Trenaunay syndrome", "Klippel-Trenaunay Syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenaunay-Weber syndrome", "Klippel-Trenaunay-Weber syndrome, Isolated cases", "Klippel-Trénaunay syndrome", "Klippel-Trénaunay-Weber syndrome", "Weber-Klippel-Trenaunay", "angioosteohypertrophy syndrome", "haemangiectatic hypertrophy"], "xref": ["DOID:2926", "GARD:0003122", "MEDGEN:9646", "MESH:D007715", "MedDRA:10051452", "NANDO:1200884", "NANDO:2201030", "NCIT:C84801", "NORD:1337", "OMIM:149000", "Orphanet:2346", "Orphanet:90308", "SCTID:721105004", "UMLS:C0022739", "icd11.foundation:1561120378"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007865", "name": "Knuckle pads", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["knuckle pads"], "xref": ["ICD10CM:M72.1", "ICD9:728.79", "MEDGEN:78103", "OMIM:149100", "SCTID:16687001", "UMLS:C0264000", "icd11.foundation:1824875472"]}
{"category": ["biolink:Disease"], "description": "Any diffuse palmoplantar keratoderma caused by a variation in the GJB2 gene, characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.", "id": "MONDO:0007866", "name": "Bart-pumphrey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bart-Pumphrey syndrome"], "xref": ["DOID:0050658", "GARD:0003125", "ICD9:759.89", "MEDGEN:82727", "MESH:C537210", "OMIM:149200", "Orphanet:2698", "SCTID:1271009", "UMLS:C0266004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007867", "name": "Nonsyndromic congenital nail disorder 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonsyndromic congenital nail disorder type 2"], "xref": ["DOID:0080080", "GARD:0009760", "ICD9:703.8", "MEDGEN:75593", "MESH:C537260", "OMIM:149300", "SCTID:66270006", "UMLS:C0266000"]}
{"category": ["biolink:Disease"], "description": "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.", "id": "MONDO:0007868", "name": "Hyperekplexia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HKPX1", "hyperekplexia 1", "hyperekplexia type 1", "hyperekplexia, hereditary type 1"], "xref": ["DOID:0060696", "GARD:0024583", "MEDGEN:1647581", "OMIM:149400", "UMLS:C4551954"]}
{"category": ["biolink:Disease"], "description": "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.", "id": "MONDO:0007869", "name": "Kyrle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Kyrle disease"], "xref": ["ICD10CM:L87.0", "MEDGEN:75516", "MESH:C538130", "OMIM:149500", "SCTID:34042008", "UMLS:C0263382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007870", "name": "Labia minora, incomplete adhesion of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["labia minora, incomplete adhesion of"], "xref": ["MEDGEN:372090", "OMIM:149600", "UMLS:C1835613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007871", "name": "Familial congenital nasolacrimal duct obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017784", "MEDGEN:332018", "MESH:C566703", "OMIM:149700", "Orphanet:451612", "UMLS:C1835612"]}
{"category": ["biolink:Disease"], "description": "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.", "id": "MONDO:0007872", "name": "Ladd syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LACRIMOAURICULODENTODIGITAL syndrome", "LADD syndrome", "Lacrimo-auriculo-dento-digital syndrome", "Lacrimoauriculodento-digital syndrome", "Lacrimoauriculoradiodental syndrome", "Levy Hollister syndrome", "Levy-Hollister syndrome", "lacrimoauriculodentodigital syndrome", "lard syndrome"], "xref": ["DOID:0050331", "DOID:0081370", "GARD:0006848", "ICD9:759.89", "MEDGEN:78545", "MESH:C538132", "NORD:1345", "OMIMPS:149730", "Orphanet:2363", "SCTID:23817003", "UMLS:C0265269"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007873", "name": "Lactic acidosis, chronic adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lactic acidosis, chronic adult form"], "xref": ["MEDGEN:320642", "MESH:C563640", "OMIM:150170", "UMLS:C1835591"]}
{"category": ["biolink:Disease"], "description": "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.", "id": "MONDO:0007874", "name": "Trichorhinophalangeal syndrome type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Langer-Giedion syndrome", "deletion 8q24.1", "monosomy 8q24.1", "trichorhinophalangeal syndrome type 2"], "xref": ["DOID:4998", "GARD:0007801", "ICD9:759.89", "MEDGEN:6009", "MESH:D015826", "MedDRA:10050638", "NCIT:C75118", "NORD:1788", "OMIM:150230", "Orphanet:502", "SCTID:41069008", "UMLS:C0023003", "icd11.foundation:315453775"]}
{"category": ["biolink:Disease"], "description": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.", "id": "MONDO:0007875", "name": "Larsen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Larsen syndrome"], "xref": ["DOID:14764", "GARD:0006860", "ICD9:759.89", "MEDGEN:104500", "MESH:C580241", "NANDO:2201019", "NORD:1349", "OMIM:150250", "Orphanet:503", "SCTID:63387002", "UMLS:C0175778", "icd11.foundation:607849551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007876", "name": "Laryngeal abductor paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Gerhardt syndrome", "familial vocal cord dysfunction", "laryngeal abductor paralysis"], "xref": ["GARD:0005509", "ICD9:748.3", "MEDGEN:96004", "OMIM:150260", "Orphanet:2808", "SCTID:232442001", "UMLS:C0396059", "icd11.foundation:965049946"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007877", "name": "Laryngeal adductor paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["LAP", "laryngeal adductor paralysis"], "xref": ["MEDGEN:140759", "MESH:C562861", "OMIM:150270", "UMLS:C0396060"]}
{"category": ["biolink:Disease"], "description": "Increased collapsibility of the larynx.", "id": "MONDO:0007878", "name": "Congenital laryngomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080833", "GARD:0006865", "ICD10CM:Q31.5", "ICD9:748.3", "MEDGEN:120500", "MESH:D055092", "MedDRA:10060786", "NCIT:C98971", "OMIM:150280", "Orphanet:2373", "SCTID:253737007", "UMLS:C0264303", "icd11.foundation:64182721"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.", "id": "MONDO:0007879", "name": "Larynx atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital atresia of larynx", "congenital atresia of the larynx", "laryngeal atresia"], "xref": ["GARD:0003194", "ICD9:748.3", "MEDGEN:78572", "MESH:C563637", "NANDO:2200190", "NCIT:C98972", "OMIM:150300", "Orphanet:1202", "SCTID:64981002", "UMLS:C0265756"]}
{"category": ["biolink:Disease"], "description": "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.", "id": "MONDO:0007880", "name": "Congenital laryngeal web", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Laryngeal web"], "xref": ["GARD:0016596", "MEDGEN:372058", "MESH:C537676", "MESH:C563636", "MedDRA:10023871", "NCIT:C98970", "OMIM:150360", "Orphanet:2374", "SCTID:444921008", "UMLS:C1835494", "icd11.foundation:1641764672"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.", "id": "MONDO:0007881", "name": "Tooth agenesis, selective, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["WNT10A tooth agenesis", "tooth agenesis caused by mutation in WNT10A", "tooth agenesis, selective, 4", "tooth agenesis, selective, type 4"], "xref": ["GARD:0018245", "MEDGEN:372057", "MESH:C563634", "OMIM:150400", "UMLS:C1835492"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007882", "name": "Lattice degeneration of retina leading to retinal detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lattice degeneration of retina leading to retinal detachment"], "xref": ["MEDGEN:331989", "MESH:C563633", "OMIM:150500", "UMLS:C1835491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007883", "name": "Periodic fever, immunodeficiency, and thrombocytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lazy leukocyte syndrome"], "xref": ["GARD:0024584", "ICD9:288.09", "MEDGEN:78795", "MESH:C562721", "OMIM:150550", "Orphanet:652522", "SCTID:71436005", "UMLS:C0272174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007884", "name": "Leg ulcers, familial, of juvenile onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leg ulcers, familial, of juvenile onset"], "xref": ["MEDGEN:322673", "MESH:C563632", "OMIM:150590", "UMLS:C1835489"]}
{"category": ["biolink:Disease"], "description": "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.", "id": "MONDO:0007885", "name": "Legg-calve-perthes disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Legg Calvé Perthes Disease", "Legg-CALVE-Perthes disease", "Legg-Calve-Perthes disease", "Legg-Calve-Perthes symptom", "Legg-Calve-Perthes syndrome", "Legg-Calvé-Perthes disease", "Legg-Perthes disease", "Osteochondrosis of the capital femoral epiphysis", "Perthe's disease", "Perthes disease", "aseptic necrosis of the capital femoral epiphysis", "osteochondritis of the capital femoral epiphysis"], "xref": ["DOID:14415", "GARD:0006874", "MEDGEN:730669", "MESH:D007873", "MedDRA:10034735", "NCIT:C34766", "NORD:1353", "OMIM:150600", "Orphanet:2380", "SCTID:15739006", "UMLS:C1442965"]}
{"category": ["biolink:Disease"], "description": "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.", "id": "MONDO:0007886", "name": "Uterine corpus leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["body of uterus fibroid", "body of uterus leiomyoma", "corpus uteri fibroid", "corpus uteri leiomyoma", "fibroid of body of uterus", "fibroid of corpus uteri", "fibroid of the body of uterus", "fibroid of the corpus uteri", "fibroid of the uterine body", "fibroid of the uterine corpus", "fibroid of uterine body", "fibroid of uterine corpus", "leiomyoma of body of uterus", "leiomyoma of corpus uteri", "leiomyoma of the body of uterus", "leiomyoma of the corpus uteri", "leiomyoma of the uterine body", "leiomyoma of the uterine corpus", "leiomyoma of uterine body", "leiomyoma of uterine corpus", "uterine body fibroid", "uterine body leiomyoma", "uterine corpus fibroid", "uterine corpus leiomyoma", "uterine corpus leiomyomata", "uterine fibroid"], "xref": ["DOID:13223", "EFO:0000731", "GARD:0024585", "HP:0000131", "ICD10CM:D25", "ICD9:218", "ICD9:218.9", "MEDGEN:21801", "NCIT:C3434", "OMIM:150699", "ONCOTREE:ULM", "SCTID:95315005", "UMLS:C0042133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007887", "name": "Leiomyoma of vulva and esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leiomyoma of vulva and esophagus"], "xref": ["GARD:0010097", "MEDGEN:320616", "MESH:C537006", "OMIM:150700", "UMLS:C1835488"]}
{"category": ["biolink:Disease"], "description": "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.", "id": "MONDO:0007888", "name": "Hereditary leiomyomatosis and renal cell cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HLRCC", "Hereditary Leiomyomatosis and Renal Cell Carcinoma", "MCUL", "Reed syndrome", "familial leiomyomatosis", "familial leiomyomatosis and renal cell cancer", "familial leiomyomatosis cutis et uteri", "familial leiomyomatosis with renal carcinoma", "familial multiple cutaneous leiomyomas", "hereditary leiomyomatosis", "hereditary leiomyomatosis and renal cell cancer", "hereditary leiomyomatosis and renal cell cancer syndrome", "hereditary leiomyomatosis and renal cell carcinoma", "hereditary leiomyomatosis with renal carcinoma", "hereditary multiple cutaneous leiomyomas", "leiomyomatosis and renal cell cancer", "multiple cutaneous and uterine leiomyomas"], "xref": ["GARD:0010096", "MEDGEN:353771", "MESH:C535516", "NCIT:C51302", "NORD:1231", "OMIM:150800", "Orphanet:523", "UMLS:C1708350", "icd11.foundation:754002573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007890", "name": "Lentiginosis, centrofacial neurodysraphic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lentiginosis, centrofacial neurodysraphic"], "xref": ["MEDGEN:372055", "MESH:C563630", "OMIM:151000", "UMLS:C1835484"]}
{"category": ["biolink:Disease"], "description": "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.", "id": "MONDO:0007891", "name": "Familial generalized lentiginosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial lentigines profusa", "familial multiple lentigines syndrome without systemic involvement"], "xref": ["GARD:0017158", "MEDGEN:486897", "MESH:C573023", "OMIM:151001", "Orphanet:231040", "SCTID:765195000", "UMLS:C3492944"]}
{"category": ["biolink:Disease"], "description": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.", "id": "MONDO:0007892", "name": "Lenz-majewski hyperostotic dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lenz-Majewski hyperostotic dwarfism"], "xref": ["DOID:0111507", "GARD:0003223", "MEDGEN:98483", "MESH:C537115", "OMIM:151050", "Orphanet:2658", "UMLS:C0432269", "icd11.foundation:1509425242"]}
{"category": ["biolink:Disease"], "description": "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.", "id": "MONDO:0007893", "name": "Noonan syndrome with multiple lentigines", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cardiomyopathic lentiginosis", "LEOPARD syndrome", "Noonan syndrome with multiple lentigines", "familial multiple lentigines syndrome", "generalised lentiginosis", "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness"], "xref": ["DOID:14291", "GARD:0001100", "ICD9:709.09", "MEDGEN:104494", "MESH:D044542", "MedDRA:10062901", "NCIT:C84820", "NORD:1360", "OMIMPS:151100", "Orphanet:500", "SCTID:111306001", "UMLS:C0175704", "icd11.foundation:939197023"]}
{"category": ["biolink:Disease"], "description": "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.", "id": "MONDO:0007894", "name": "Leri pleonosteosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leri pleonosteosis", "leri pleonosteosis chromosome duplication syndrome"], "xref": ["GARD:0000088", "MEDGEN:331978", "MESH:C537118", "NORD:1364", "OMIM:151200", "Orphanet:2900", "UMLS:C1835450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007895", "name": "Platyspondylic dysplasia, torrance type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLSD-T", "Platyspondylic dysplasia, Torrance-Luton type", "Platyspondylic lethal skeletal dysplasia, Torrance type", "platyspondylic dysplasia, Torrance type", "platyspondylic skeletal dysplasia, Torrance type"], "xref": ["DOID:0111508", "GARD:0004382", "MEDGEN:331974", "MESH:C563627", "NANDO:2201347", "OMIM:151210", "Orphanet:85166", "UMLS:C1835437", "icd11.foundation:263213426"]}
{"category": ["biolink:Disease"], "description": "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).", "id": "MONDO:0007896", "name": "Acute monocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AML M5", "acute monoblastic leukaemia and acute monocytic leukaemia", "acute monocytic leukaemia (FAB M5B)", "acute monocytic leukaemia (FAB M5b)", "acute monocytic leukemia", "acute monocytic leukemia (FAB M5B)", "acute monocytic leukemia (FAB M5b)", "acute monocytic leukemia, morphology (morphologic abnormality)", "leukemia, monocytic, malignant", "monocytic leukemia, acute"], "xref": ["CSP:2004-2820", "DOID:8864", "EFO:0000221", "GARD:0000525", "ICD10CM:C93.0", "ICD9:206.0", "ICDO:9891/3", "MEDGEN:7319", "MESH:D007948", "MedDRA:10000871", "MedDRA:10059439", "NANDO:2200008", "NANDO:2200009", "NCIT:C4861", "OMIM:151380", "ONCOTREE:AMOL", "Orphanet:514", "SCTID:413441006", "UMLS:C0023465", "icd11.foundation:517546180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007898", "name": "Leukocyte nuclear appendages, hereditary prevalence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leukocyte nuclear appendages, hereditary prevalence of"], "xref": ["MEDGEN:320594", "MESH:C563626", "OMIM:151500", "UMLS:C1835405"]}
{"category": ["biolink:Disease"], "description": "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.", "id": "MONDO:0007899", "name": "Lichen sclerosus et atrophicus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lichen sclerosus et atrophicus"], "xref": ["ICD10CM:L90.0", "MEDGEN:7338", "MESH:D018459", "NCIT:C26817", "OMIM:151590", "Orphanet:33409", "SCTID:25674000", "UMLS:C0023652"]}
{"category": ["biolink:Disease"], "description": "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.", "id": "MONDO:0007900", "name": "Nonsyndromic congenital nail disorder 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PLCD1 inherited isolated nail anomaly", "inherited isolated nail anomaly caused by mutation in PLCD1", "nail disorder, nonsyndromic congenital, 3, (leukonychia)", "nail disorder, nonsyndromic congenital, type 3", "nonsyndromic congenital nail disorder type 3"], "xref": ["DOID:0080081", "GARD:0002555", "ICD9:703.8", "MEDGEN:107463", "MESH:C537289", "OMIM:151600", "SCTID:74102009", "UMLS:C0544855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007901", "name": "Levator-medial rectus synkinesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["levator-medial rectus synkinesis"], "xref": ["MEDGEN:320592", "MESH:C563625", "OMIM:151610", "UMLS:C1835403"]}
{"category": ["biolink:Disease"], "description": "An instance of lichen planus that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007902", "name": "Lichen planus, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hereditary lichen planus", "lichen planus, familial"], "xref": ["MEDGEN:372036", "MESH:C563624", "OMIM:151620", "UMLS:C1835402"]}
{"category": ["biolink:Disease"], "description": "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.", "id": "MONDO:0007904", "name": "Median nodule of the upper lip", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003440", "MEDGEN:372034", "OMIM:151630", "Orphanet:2699", "SCTID:722034006", "UMLS:C1835396"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007905", "name": "Lip, hamartomatous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lip, hamartomatous"], "xref": ["MEDGEN:331965", "MESH:C563621", "OMIM:151640", "UMLS:C1835395"]}
{"category": ["biolink:Disease"], "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.", "id": "MONDO:0007906", "name": "Familial partial lipodystrophy, dunnigan type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dunnigan syndrome", "FPLD2", "familial partial lipodystrophy type 2"], "xref": ["DOID:0070202", "GARD:0003126", "MEDGEN:354526", "OMIM:151660", "Orphanet:2348", "SCTID:715439000", "UMLS:C1720860", "icd11.foundation:2068585355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007907", "name": "Lipoma of the conjunctiva", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lipoma of the conjunctiva"], "xref": ["GARD:0024586", "MEDGEN:372030", "MESH:C563620", "OMIM:151700", "UMLS:C1835373"]}
{"category": ["biolink:Disease"], "description": "A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).", "id": "MONDO:0007908", "name": "Multiple symmetric lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Launois-Bensaude lipomatosis", "Madelung's Disease", "cephalothoracic lipodystrophy", "cervical symmetrical lipomatosis", "familial benign cervical lipomatosis", "lipodystrophy, cephalothoracic", "lipomatosis, familial benign cervical", "multiple symmetric lipomatosis", "multiple symmetrical lipomatosis"], "xref": ["DOID:14116", "EFO:1000737", "GARD:0006957", "MEDGEN:7349", "NCIT:C4392", "NORD:1392", "OMIM:151800", "Orphanet:2398", "SCTID:238902007", "UMLS:C0023804"]}
{"category": ["biolink:Disease"], "description": "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.", "id": "MONDO:0007909", "name": "Familial multiple lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070518", "GARD:0012925", "ICD9:214.8", "ICD9:214.9", "MEDGEN:698553", "MESH:D000071070", "OMIM:151900", "Orphanet:199276", "SCTID:766888002", "UMLS:C1275273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007910", "name": "Lipoprotein types--lt system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoprotein types--Lt system"], "xref": ["MEDGEN:322644", "OMIM:152300", "UMLS:C1835359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007911", "name": "Lipoprotein, variant of beta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoprotein, variant of beta"], "xref": ["MEDGEN:322642", "OMIM:152400", "UMLS:C1835357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007912", "name": "Lithium transport", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lithium transport"], "xref": ["MEDGEN:331956", "OMIM:152420", "UMLS:C1835356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007913", "name": "Low density lipoprotein, variation in molecular weight of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:322635", "OMIM:152450", "UMLS:C1835321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007914", "name": "Lumbar stenosis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lumbar stenosis, familial"], "xref": ["MEDGEN:372016", "MESH:C563613", "OMIM:152550", "UMLS:C1835320"]}
{"category": ["biolink:Disease"], "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.", "id": "MONDO:0007915", "name": "Systemic lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLE", "SLE - lupus erythematosus, systemic", "disseminated lupus erythematosus", "lupus erythematosus, systemic", "systemic lupus erythematosus", "systemic lupus erythematosus (disease)", "systemic lupus erythematosus susceptibility to"], "xref": ["DOID:9074", "HP:0002725", "ICD10CM:M32", "ICD10WHO:M32", "ICD9:710.0", "MEDGEN:6146", "MESH:D008180", "NANDO:1200272", "NANDO:2200416", "NCIT:C3201", "NORD:1380", "OMIM:152700", "OMIMPS:601744", "Orphanet:536", "SCTID:55464009", "UMLS:C0024141", "icd11.foundation:749596428"]}
{"category": ["biolink:Disease"], "description": "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.", "id": "MONDO:0007916", "name": "Primary intestinal lymphangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Waldmann disease"], "xref": ["GARD:0007873", "ICD9:457.1", "MEDGEN:444009", "NORD:1609", "OMIM:152800", "Orphanet:90362", "SCTID:6124009", "UMLS:C2931241", "icd11.foundation:52162548"]}
{"category": ["biolink:Disease"], "description": "Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.", "id": "MONDO:0007917", "name": "Lymphedema-cerebral arteriovenous anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009217", "MEDGEN:322617", "MESH:C563612", "OMIM:152900", "Orphanet:86914", "UMLS:C1835272"]}
{"category": ["biolink:Disease"], "description": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.", "id": "MONDO:0007918", "name": "Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF11-associated disorder", "MCLMR", "MLCRD", "MLCRD syndrome", "lymphedema, microcephaly and chorioretinopathy syndrome", "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome"], "xref": ["DOID:0060349", "GARD:0003622", "MEDGEN:320559", "MESH:C537711", "OMIM:152950", "Orphanet:2526", "UMLS:C1835265"]}
{"category": ["biolink:Disease"], "description": "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.", "id": "MONDO:0007919", "name": "Lymphatic malformation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FLT4 hereditary lymphedema", "LMPH1A", "Milroy disease", "Nonne-Milroy disease", "Nonne-Milroy lymphedema", "Nonne-Milroy syndrome", "Nonne’s syndrome", "congenital hereditary lymphedema", "early onset lymphedema", "hereditary lymphedema 1", "hereditary lymphedema caused by mutation in FLT4", "hereditary lymphedema type I", "lymphedema, early-onset", "lymphedema, hereditary, 1A", "lymphedema, hereditary, type 1A", "primary congenital lymphedema"], "xref": ["DOID:0070210", "DOID:0070212", "GARD:0003328", "MEDGEN:309963", "OMIM:153100", "Orphanet:79452", "SCTID:399889006", "UMLS:C1704423"]}
{"category": ["biolink:Disease"], "description": "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.", "id": "MONDO:0007920", "name": "Lymphatic malformation 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMPH2", "Meige disease", "Meige lymphedema", "hereditary lymphedema type II", "late-onset primary lymphedema"], "xref": ["DOID:0070213", "GARD:0003324", "MEDGEN:1648463", "MESH:C562467", "MedDRA:10027138", "OMIM:153200", "Orphanet:90186", "SCTID:400040008", "UMLS:C4746631"]}
{"category": ["biolink:Disease"], "description": "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.", "id": "MONDO:0007921", "name": "Yellow nail syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["YNS", "lymphedema with yellow nails", "yellow nail syndrome"], "xref": ["DOID:0050468", "EFO:1001452", "GARD:0000184", "ICD10CM:L60.5", "ICD9:703.8", "ICD9:757.0", "MEDGEN:113164", "MESH:D056684", "MedDRA:10048244", "NCIT:C85238", "NORD:1874", "OMIM:153300", "Orphanet:662", "SCTID:400211001", "UMLS:C0221348", "icd11.foundation:47812081"]}
{"category": ["biolink:Disease"], "description": "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.", "id": "MONDO:0007922", "name": "Lymphedema-distichiasis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lymphedema-distichiasis syndrome"], "xref": ["DOID:0111509", "GARD:0000333", "ICD9:743.63", "MEDGEN:75566", "MESH:C537710", "NCIT:C128191", "NORD:1383", "OMIM:153400", "Orphanet:33001", "SCTID:8634009", "UMLS:C0265345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007923", "name": "Macrocephaly, benign familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macrocephaly, benign familial"], "xref": ["MEDGEN:113101", "MESH:C537717", "OMIM:153470", "UMLS:C0220690"]}
{"category": ["biolink:Disease"], "description": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.", "id": "MONDO:0007924", "name": "Bannayan-riley-ruvalcaba syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BRRS", "Bannayan syndrome", "Bannayan-Riley-Ruvalcaba syndrome", "Bannayan-Zonana syndrome", "Myhre-Riley-Smith syndrome", "RILEY-SMITH syndrome", "Ruvalcaba-MYHRE-SMITH syndrome", "macrocephaly with multiple lipomas and hemangiomas"], "xref": ["DOID:0050657", "GARD:0005887", "ICD10CM:E71.440", "ICD9:759.6", "MEDGEN:78554", "NCIT:C3939", "NORD:1684", "OMIM:153480", "Orphanet:109", "SCTID:21984008", "UMLS:C0265326", "icd11.foundation:357383447"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is 5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)", "id": "MONDO:0007925", "name": "Myelodysplastic syndrome associated with isolated del(5q)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["5Q minus syndrome", "5Q- syndrome", "5q- syndrome", "5q- syndrome, refractory macrocytic anaemia due to 5q deletion", "chromosome 5q deletion syndrome", "macrocytic anemia, refractory, due to 5q deletion, somatic", "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality", "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality", "myelodysplastic syndrome with 5q deletion", "myelodysplastic syndrome with isolated del(5q)"], "xref": ["DOID:0090016", "GARD:0008723", "ICD10CM:D46.C", "ICDO:9986/3", "MEDGEN:226950", "MESH:C535323", "NCIT:C6867", "OMIM:153550", "Orphanet:86841", "SCTID:277597005", "UMLS:C1292779", "icd11.foundation:420472577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007927", "name": "Congenital macroglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016599", "ICD9:750.15", "MEDGEN:3588", "MESH:C531735", "OMIM:153630", "Orphanet:2430", "SCTID:270516002", "UMLS:C0009677", "icd11.foundation:423141418"]}
{"category": ["biolink:Disease"], "description": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.", "id": "MONDO:0007930", "name": "Bernard-soulier syndrome, type a2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BSSA2", "Bernard-Soulier syndrome, type A2 (dominant)", "Bernard-Soulier syndrome, type A2, autosomal dominant"], "xref": ["DOID:0111059", "GARD:0015082", "MEDGEN:478706", "OMIM:153670", "UMLS:C3277076"]}
{"category": ["biolink:Disease"], "description": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.", "id": "MONDO:0007931", "name": "Vitelliform macular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BEST1 retinopathy", "BMD", "BVMD", "Best Vitelliform Macular Dystrophy", "Best disease", "Best macular dystrophy", "early-onset vitelliform macular dystrophy", "juvenile-onset vitelliform macular dystrophy", "macular degeneration, polymorphic vitelline", "macular dystrophy, vitelliform, type 2", "polymorphic vitelline macular degeneration", "vitelliform macular dystrophy type 2", "vitelliform macular dystrophy, early-onset", "vitelliform macular dystrophy, juvenile-onset"], "xref": ["GARD:0000182", "MEDGEN:411553", "NORD:853", "OMIM:153700", "Orphanet:1243", "SCTID:763387005", "UMLS:C2745945"]}
{"category": ["biolink:Disease"], "description": "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.", "id": "MONDO:0007932", "name": "Age related macular degeneration 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD2", "age related macular degeneration type 2", "macular Degeneration, age-related, type 2"], "xref": ["DOID:0110015", "GARD:0024587", "MEDGEN:501183", "MESH:C562479", "OMIM:153800", "UMLS:C3495438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007933", "name": "Vitelliform macular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VMD1"], "xref": ["GARD:0010120", "MEDGEN:1636950", "MESH:C537832", "OMIM:153840", "UMLS:C4551953"]}
{"category": ["biolink:Disease"], "description": "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.", "id": "MONDO:0007934", "name": "Benign concentric annular macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinitis pigmentosa 91"], "xref": ["DOID:0061106", "GARD:0009887", "MEDGEN:1794135", "MESH:C537833", "OMIM:153870", "Orphanet:251287", "SCTID:719520001", "UMLS:C5561925", "icd11.foundation:1839503243"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.", "id": "MONDO:0007935", "name": "Cystoid macular edema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DCMD", "autosomal dominant cystoid macular edema", "autosomal dominant cystoid macular oedema", "familial macular edema", "familial macular oedema"], "xref": ["DOID:4447", "GARD:0016694", "MEDGEN:7435", "NCIT:C34794", "OMIM:153880", "Orphanet:75381", "SCTID:312921000", "UMLS:C0024440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007936", "name": "Macular dystrophy, fenestrated sheen type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["macular dystrophy, fenestrated sheen type"], "xref": ["GARD:0024588", "MEDGEN:331921", "MESH:C563607", "OMIM:153890", "UMLS:C1835173"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.", "id": "MONDO:0007937", "name": "Renal hypomagnesemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FXYD2 familial primary hypomagnesemia", "FXYD2 primary hypomagnesemia", "HOMG2", "familial primary hypomagnesemia caused by mutation in FXYD2", "isolated autosomal dominant hypomagnesemia", "isolated renal magnesium wasting", "primary hypomagnesemia caused by mutation in FXYD2", "renal hypomagnesemia type 2"], "xref": ["DOID:0060885", "GARD:0003350", "MEDGEN:320542", "MESH:C537152", "OMIM:154020", "Orphanet:34528", "SCTID:725393000", "UMLS:C1835171"]}
{"category": ["biolink:Disease"], "description": "Sex reversal in an individual associated with a 9p24.3 deletion.", "id": "MONDO:0007938", "name": "46,xy sex reversal 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 4", "46,XY sex reversal 4", "46XY sex reversal 4, Isolated cases"], "xref": ["DOID:0111771", "GARD:0015083", "MEDGEN:416704", "MESH:C567887", "NCIT:C132270", "OMIM:154230", "UMLS:C2752149"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007941", "name": "Malocclusion due to protuberant upper front teeth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malocclusion due to protuberant upper front teeth"], "xref": ["MEDGEN:331917", "OMIM:154300", "UMLS:C1835159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007942", "name": "Mammastatin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mammastatin"], "xref": ["MEDGEN:854535", "MESH:C060120", "OMIM:154370", "UMLS:C3887696"]}
{"category": ["biolink:Disease"], "description": "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.", "id": "MONDO:0007943", "name": "Nager acrofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NAFD", "Nager Syndrome", "Nager acrofacial dysostosis", "Nager acrofacial dysostosis syndrome", "Nager syndrome", "acrofacial dysostosis 1, Nager type", "mandibulofacial dysostosis with preaxial limb anomalies", "preaxial acrodysostosis"], "xref": ["DOID:5768", "GARD:0000498", "MEDGEN:120519", "MESH:C538184", "NORD:1487", "OMIM:154400", "Orphanet:245", "SCTID:35520007", "UMLS:C0265245"]}
{"category": ["biolink:Disease"], "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.", "id": "MONDO:0007944", "name": "Treacher collins syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TCOF1 Treacher-Collins syndrome", "Treacher Collins syndrome type 1", "Treacher-Collins syndrome 1", "Treacher-Collins syndrome caused by mutation in TCOF1"], "xref": ["DOID:0080789", "GARD:0024589", "OMIM:154500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007945", "name": "Mannose 6-phosphate receptor recognition defect, lebanese type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mannose 6-phosphate receptor recognition defect, Lebanese type"], "xref": ["MEDGEN:331911", "MESH:C563601", "OMIM:154570", "UMLS:C1835134"]}
{"category": ["biolink:Disease"], "description": "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis.", "id": "MONDO:0007946", "name": "Jaw-winking syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marcus Gunn Phenomenon", "Marcus Gunn phenomenon", "Marcus Gunn syndrome", "Marcus-Gunn phenomenon", "Marcus-Gunn syndrome", "Maxillopalpebral synkinesis", "jaw-winking", "jaw-winking syndrome", "mandibulo-palpebral synkinesis-ptosis syndrome"], "xref": ["DOID:560", "GARD:0006972", "ICD9:374.43", "ICD9:742.8", "MEDGEN:120582", "MESH:C535908", "MedDRA:10064583", "NORD:1401", "OMIM:154600", "Orphanet:91412", "SCTID:5127009", "UMLS:C0266521", "icd11.foundation:590216180"]}
{"category": ["biolink:Disease"], "description": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.", "id": "MONDO:0007947", "name": "Marfan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["MFS", "MFS1", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, type 1", "Marfan's syndrome"], "xref": ["DOID:14323", "GARD:0016535", "ICD10CM:Q87.4", "ICD9:759.82", "MEDGEN:44287", "MESH:D008382", "MedDRA:10026829", "NANDO:1200644", "NANDO:2200968", "NCIT:C34807", "NORD:1403", "OMIM:154700", "Orphanet:284963", "Orphanet:558", "SCTID:19346006", "UMLS:C0024796", "icd11.foundation:236564145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007948", "name": "Marfanoid hypermobility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["marfanoid hypermobility syndrome"], "xref": ["MEDGEN:120632", "MESH:C531742", "OMIM:154750", "UMLS:C0268365"]}
{"category": ["biolink:Disease"], "description": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.", "id": "MONDO:0007949", "name": "Marshall syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marshall syndrome"], "xref": ["DOID:0111510", "GARD:0006984", "ICD9:759.89", "MEDGEN:82694", "MESH:C536025", "NCIT:C128115", "NORD:1407", "OMIM:154780", "Orphanet:560", "SCTID:33410002", "UMLS:C0265235", "icd11.foundation:1401051186"]}
{"category": ["biolink:Disease"], "description": "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.", "id": "MONDO:0007950", "name": "Mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Mast cell disease", "mastocytosis"], "xref": ["DOID:350", "EFO:0009001", "GARD:0006987", "ICD10WHO:Q82.2", "MEDGEN:9902", "MESH:D008415", "MedDRA:10026891", "NCIT:C84269", "NORD:1408", "ONCOTREE:MCD", "Orphanet:98292", "UMLS:C0024899", "icd11.foundation:691643472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007951", "name": "Masticatory muscles, hypertrophy of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["masticatory muscles, hypertrophy of"], "xref": ["MEDGEN:322570", "MESH:C563600", "OMIM:154850", "SCTID:699649006", "UMLS:C1835093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007952", "name": "Maxillofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["maxillofacial dysostosis"], "xref": ["MEDGEN:320517", "MESH:C563599", "OMIM:155000", "UMLS:C1835088"]}
{"category": ["biolink:Disease"], "description": "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.", "id": "MONDO:0007953", "name": "Binder syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Binder syndrome", "Maxillonasal dysostosis", "binder syndrome"], "xref": ["DOID:14683", "GARD:0006992", "MEDGEN:66318", "MESH:C536036", "OMIM:155050", "Orphanet:1248", "SCTID:715985008", "UMLS:C0220692"]}
{"category": ["biolink:Disease"], "description": "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.", "id": "MONDO:0007955", "name": "Meckel diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Meckel diverticulum", "Meckel's diverticulum", "persistent vitelline duct"], "xref": ["DOID:9487", "EFO:1001036", "ICD10CM:Q43.0", "ICD9:751.0", "MEDGEN:9917", "MESH:D008467", "MedDRA:10027055", "NCIT:C12264", "OMIM:155140", "SCTID:37373007", "UMLS:C0025037", "icd11.foundation:216192536", "icd11.foundation:337533229"]}
{"category": ["biolink:Disease"], "description": "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.", "id": "MONDO:0007956", "name": "Pai syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pai syndrome", "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome"], "xref": ["GARD:0003439", "MEDGEN:371972", "MESH:C536135", "OMIM:155145", "Orphanet:1993", "SCTID:722201004", "UMLS:C1835087", "icd11.foundation:1236130516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007957", "name": "Mediosternal depigmentation line", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mediosternal depigmentation line"], "xref": ["MEDGEN:371971", "OMIM:155200", "UMLS:C1835085"]}
{"category": ["biolink:Disease"], "description": "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0007958", "name": "Familial medullary thyroid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["familial MTC", "familial medullary thyroid carcinoma", "hereditary medullary thyroid gland carcinoma", "hereditary thyroid medullary carcinoma", "thyroid carcinoma, familial medullary"], "xref": ["DOID:0050547", "GARD:0016901", "MEDGEN:322311", "MESH:C536911", "NCIT:C46099", "OMIM:155240", "Orphanet:99361", "UMLS:C1833921"]}
{"category": ["biolink:Disease"], "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.", "id": "MONDO:0007959", "name": "Medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cerebellum embryonal neoplasm", "medulloblastoma", "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "medulloblastoma, malignant", "medulloblastoma, somatic", "medulloblastomas"], "xref": ["DOID:0050902", "DOID:0060104", "EFO:0002939", "GARD:0007005", "ICDO:9470/3", "MEDGEN:7517", "MESH:D008527", "MedDRA:10027107", "NANDO:2200090", "NCIT:C3222", "NORD:1422", "OMIM:155255", "ONCOTREE:MBL", "Orphanet:616", "SCTID:443333004", "UMLS:C0025149", "icd11.foundation:290815825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007961", "name": "Megalencephaly, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["megalencephaly, autosomal dominant"], "xref": ["GARD:0024590", "MEDGEN:812057", "OMIM:155350", "UMLS:C3805727"]}
{"category": ["biolink:Disease"], "description": "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.", "id": "MONDO:0007962", "name": "Megalodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Megalodactyly", "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic"], "xref": ["GARD:0024591", "MEDGEN:78564", "MESH:C562546", "NCIT:C48900", "OMIM:155500", "SCTID:48449000", "UMLS:C0265552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007963", "name": "Melanoma, cutaneous malignant, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["melanoma, cutaneous malignant, 1", "melanoma, cutaneous malignant, susceptibility to, 1", "melanoma, malignant, somatic"], "xref": ["GARD:0027782", "MEDGEN:320506", "OMIM:155600", "SCTID:254819008", "UMLS:C1835047"]}
{"category": ["biolink:Disease"], "description": "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)", "id": "MONDO:0007964", "name": "Melanoma, cutaneous malignant, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["Atypical Mole syndrome", "B-K Mole syndrome", "dysplastic nevus syndrome", "familial dysplastic nevi", "melanoma, cutaneous malignant, 2", "melanoma, cutaneous malignant, susceptibility to, 2", "melanoma, cutaneous malignant, susceptibility to, type 2"], "xref": ["DOID:10041", "GARD:0027783", "MEDGEN:331891", "MESH:D004416", "NCIT:C7584", "OMIM:155601", "UMLS:C1835044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007965", "name": "Melanoma, malignant familial intraocular", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["melanoma, malignant familial intraocular"], "xref": ["GARD:0018576", "MEDGEN:322559", "MESH:C563596", "OMIM:155700", "UMLS:C1835043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007966", "name": "Susceptibility to uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0027784"]}
{"category": ["biolink:Disease"], "description": "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).", "id": "MONDO:0007967", "name": "Melanoma and neural system tumor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["melanoma and neural system tumor syndrome", "melanoma-astrocytoma syndrome"], "xref": ["DOID:0111511", "GARD:0008468", "MEDGEN:331890", "MESH:C536149", "NCIT:C176905", "OMIM:155755", "Orphanet:252206", "SCTID:717968005", "UMLS:C1835042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007968", "name": "Melanoma tumor antigen gp90", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["melanoma tumor antigen Gp90"], "xref": ["MEDGEN:322558", "OMIM:155770", "UMLS:C1835040"]}
{"category": ["biolink:Disease"], "description": "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.", "id": "MONDO:0007969", "name": "Melkersson-rosenthal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Melkersson's syndrome", "Melkersson-Rosenthal syndrome"], "xref": ["DOID:1761", "EFO:1001039", "GARD:0007010", "ICD10CM:G51.2", "MEDGEN:6291", "MESH:D008556", "MedDRA:10027166", "NCIT:C84886", "NORD:1429", "OMIM:155900", "Orphanet:2483", "UMLS:C0025235"]}
{"category": ["biolink:Disease"], "description": "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.", "id": "MONDO:0007970", "name": "Melorheostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["melorheostosis, isolated, somatic mosaic"], "xref": ["DOID:4253", "GARD:0009474", "ICD9:756.89", "MEDGEN:460981", "MESH:D008557", "MedDRA:10050284", "NANDO:2201364", "NCIT:C84887", "NORD:1431", "OMIM:155950", "Orphanet:2485", "SCTID:44697002", "UMLS:C3149631", "icd11.foundation:312433776"]}
{"category": ["biolink:Disease"], "description": "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.", "id": "MONDO:0007971", "name": "Delayed membranous cranial ossification", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gonzales-del Angel syndrome"], "xref": ["GARD:0001727", "MEDGEN:320502", "MESH:C563592", "OMIM:155980", "Orphanet:3034", "SCTID:715524004", "UMLS:C1835030", "icd11.foundation:766852360"]}
{"category": ["biolink:Disease"], "description": "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.", "id": "MONDO:0007972", "name": "Meniere disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meniere disease"], "xref": ["DOID:9849", "EFO:0006862", "ICD9:386.0", "ICD9:386.00", "MEDGEN:7530", "MESH:D008575", "NCIT:C185243", "OMIM:156000", "Orphanet:45360", "SCTID:13445001", "UMLS:C0025281", "icd11.foundation:683932278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007973", "name": "Mental and growth retardation with amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mental and growth retardation with amblyopia"], "xref": ["MEDGEN:331885", "MESH:C563591", "OMIM:156190", "UMLS:C1835028"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.", "id": "MONDO:0007974", "name": "Intellectual disability, autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["MBD5 autosomal dominant non-syndromic intellectual disability", "MRD1", "autosomal dominant intellectual disability 1", "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5", "intellectual disability, autosomal dominant 1", "intellectual disability, autosomal dominant type 1", "mental retardation, autosomal dominant type 1"], "xref": ["DOID:0070031", "GARD:0018623", "MEDGEN:409857", "MESH:C566947", "NCIT:C141424", "OMIM:156200", "UMLS:C1969562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007975", "name": "Meralgia paraesthetica, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["meralgia paraesthetica, familial"], "xref": ["GARD:0024592", "MEDGEN:322555", "MESH:C563590", "OMIM:156220", "UMLS:C1835026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007976", "name": "Mesomelic dwarfism of hypoplastic tibia and radius type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesomelic dwarfism of hypoplastic tibia and radius type"], "xref": ["MEDGEN:322550", "MESH:C563589", "OMIM:156230", "UMLS:C1835010"]}
{"category": ["biolink:Disease"], "description": "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.", "id": "MONDO:0007977", "name": "Mesomelic dysplasia, kantaputra type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kantaputra mesomelic dysplasia", "MDK", "mesomelic dysplasia, Kantaputra type", "mesomelic dysplasia, Thai type"], "xref": ["GARD:0003074", "MEDGEN:331880", "MESH:C535547", "OMIM:156232", "Orphanet:1836", "SCTID:719397009", "UMLS:C1835009"]}
{"category": ["biolink:Disease"], "description": "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.", "id": "MONDO:0007979", "name": "Metachondromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["metachondromatosis"], "xref": ["DOID:0111512", "GARD:0003560", "ICD9:756.59", "MEDGEN:98377", "MESH:C562938", "OMIM:156250", "Orphanet:2499", "SCTID:205481009", "UMLS:C0410530", "icd11.foundation:1342578560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007980", "name": "Metachromasia of fibroblasts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metachromasia of fibroblasts"], "xref": ["MEDGEN:322549", "OMIM:156300", "UMLS:C1835008"]}
{"category": ["biolink:Disease"], "description": "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.", "id": "MONDO:0007982", "name": "Metaphyseal chondrodysplasia, jansen type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jansen Type Metaphyseal Chondrodysplasia", "Jansen type metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia murk Jansen type", "metaphyseal chondrodysplasia, Jansen type", "metaphyseal chondrodysplasia, murk Jansen type", "murk Jansen type metaphyseal chondrodysplasia"], "xref": ["DOID:0080020", "GARD:0000079", "MEDGEN:120529", "MESH:C537564", "NCIT:C131868", "NORD:1307", "OMIM:156400", "Orphanet:33067", "SCTID:24629003", "UMLS:C0265295", "icd11.foundation:1652660420"]}
{"category": ["biolink:Disease"], "description": "A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.", "id": "MONDO:0007983", "name": "Schmid metaphyseal chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCDS", "Metaphyseal Chondrodysplasia, Schmid Type", "metaphyseal chondrodysplasia Schmid type", "metaphyseal chondrodysplasia, Schmid type", "spondylometaphyseal dysplasia, Japanese type"], "xref": ["DOID:0080021", "GARD:0007029", "MEDGEN:78550", "MESH:C537352", "NORD:1444", "OMIM:156500", "Orphanet:174", "SCTID:29248006", "UMLS:C0265289"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.", "id": "MONDO:0007984", "name": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111513", "GARD:0003568", "MEDGEN:762788", "OMIM:156510", "Orphanet:2504", "UMLS:C3549874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007985", "name": "Metatarsus varus, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:331870", "MESH:C563585", "OMIM:156520", "UMLS:C1834968"]}
{"category": ["biolink:Disease"], "description": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.", "id": "MONDO:0007986", "name": "Metatropic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Metatropic Dysplasia I", "Metatropic dwarfism", "metatropic dysplasia"], "xref": ["DOID:0111514", "GARD:0003571", "MEDGEN:82699", "MESH:C537356", "NCIT:C175209", "NORD:1445", "OMIM:156530", "Orphanet:2635", "SCTID:22764001", "UMLS:C0265281"]}
{"category": ["biolink:Disease"], "description": "A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones.", "id": "MONDO:0007987", "name": "Kniest dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kniest dysplasia"], "xref": ["DOID:0080045", "GARD:0006841", "ICD9:756.9", "MEDGEN:75559", "MESH:C537207", "NANDO:2201350", "NCIT:C125594", "NORD:1339", "OMIM:156550", "Orphanet:485", "SCTID:53974002", "UMLS:C0265279", "icd11.foundation:2088691719"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of microcephaly (disease).", "id": "MONDO:0007988", "name": "Autosomal dominant primary microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant primary microcephaly", "microcephaly (disease), autosomal dominant"], "xref": ["DOID:0061100", "DOID:14725", "GARD:0003605", "MEDGEN:66319", "MESH:C537323", "OMIM:156580", "Orphanet:2514", "UMLS:C0220693", "icd11.foundation:774437947"]}
{"category": ["biolink:Disease"], "description": "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.", "id": "MONDO:0007989", "name": "Congenital microcoria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital miosis"], "xref": ["GARD:0003635", "MEDGEN:227002", "MESH:C537550", "OMIM:156600", "Orphanet:566", "SCTID:400962005", "UMLS:C1303009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007990", "name": "Multiple benign circumferential skin creases on limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CCSF", "CSCSC", "Kunze-Riehm syndrome", "circumferential skin creases, Kunze type", "congenital circumferential skin folds"], "xref": ["DOID:0112241", "GARD:0003589", "MEDGEN:96881", "MESH:C537575", "Orphanet:2505", "UMLS:C0473586"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.", "id": "MONDO:0007991", "name": "Microcephaly-deafness-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kawashima-Tsuji syndrome"], "xref": ["GARD:0000230", "MEDGEN:163208", "MESH:C537326", "OMIM:156620", "Orphanet:2533", "SCTID:716112005", "UMLS:C0796062"]}
{"category": ["biolink:Disease"], "description": "Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.", "id": "MONDO:0007992", "name": "Microcornea-glaucoma-absent frontal sinuses syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003637", "MEDGEN:331860", "MESH:C537552", "OMIM:156700", "Orphanet:2536", "UMLS:C1834935"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of microgastria with a limb reduction defect.", "id": "MONDO:0007993", "name": "Microgastria-limb reduction defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003640", "MEDGEN:322532", "MESH:C537554", "OMIM:156810", "Orphanet:2538", "UMLS:C1834929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007994", "name": "Micromelic bone dysplasia with cloverleaf skull", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["micromelic bone dysplasia with cloverleaf skull"], "xref": ["GARD:0001404", "MEDGEN:322531", "MESH:C536429", "OMIM:156830", "UMLS:C1834928"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007995", "name": "Microphthalmia, isolated, with cataract 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOPCT1", "microphthalmia, isolated, with cataract 1"], "xref": ["GARD:0009610", "MEDGEN:320475", "MESH:C563582", "OMIM:156850", "UMLS:C1834919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007996", "name": "Microphthalmia, isolated, with corectopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microphthalmia, isolated, with corectopia"], "xref": ["MEDGEN:320474", "MESH:C563581", "OMIM:156900", "UMLS:C1834918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0007997", "name": "Microspherophakia with hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microspherophakia with hernia"], "xref": ["MEDGEN:322521", "MESH:C537468", "OMIM:157150", "UMLS:C1834881"]}
{"category": ["biolink:Disease"], "description": "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.", "id": "MONDO:0007998", "name": "Microspherophakia-metaphyseal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Verloes-Van Maldergem-de Marneffe syndrome"], "xref": ["GARD:0005481", "MEDGEN:322520", "MESH:C536540", "OMIM:157151", "Orphanet:2551", "UMLS:C1834880"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.", "id": "MONDO:0007999", "name": "Holoprosencephaly 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE2", "SIX3 holoprosencephaly", "holoprosencephaly 2", "holoprosencephaly caused by mutation in SIX3", "holoprosencephaly type 2"], "xref": ["DOID:0110872", "GARD:0024593", "MEDGEN:322517", "MESH:C563579", "NCIT:C74995", "OMIM:157170", "UMLS:C1834877"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008001", "name": "Milia, multiple eruptive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["milia, multiple eruptive"], "xref": ["MEDGEN:83356", "MESH:C562823", "OMIM:157400", "SCTID:238749001", "UMLS:C0343079"]}
{"category": ["biolink:Disease"], "description": "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.", "id": "MONDO:0008002", "name": "Mirror movements 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["DCC familial congenital mirror movements", "familial congenital mirror movements caused by mutation in DCC", "mirror movements 1", "mirror movements type 1"], "xref": ["DOID:0070636", "GARD:0015086", "MEDGEN:320461", "OMIM:157600", "UMLS:C1834870"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of progressive external ophthalmoplegia.", "id": "MONDO:0008003", "name": "Autosomal dominant progressive external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adPEO", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1", "progressive external ophthalmoplegia, autosomal dominant"], "xref": ["GARD:0016486", "MEDGEN:1686757", "MESH:C563575", "Orphanet:254892", "UMLS:C5231255"]}
{"category": ["biolink:Disease"], "description": "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0008004", "name": "Familial mitral valve prolapse", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary mitral valve prolapse (disease)"], "xref": ["GARD:0003687", "MEDGEN:573696", "OMIMPS:157700", "Orphanet:741", "SCTID:233858000", "UMLS:C0340364"]}
{"category": ["biolink:Disease"], "description": "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.", "id": "MONDO:0008005", "name": "Cardiospondylocarpofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Forney syndrome", "Forney-Robinson-Pascoe syndrome", "cardiospondylocarpofacial syndrome", "mitral regurgitation-deafness-skeletal anomalies syndrome"], "xref": ["GARD:0002362", "MEDGEN:444060", "MESH:C563572", "NCIT:C188216", "OMIM:157800", "Orphanet:3238", "SCTID:720612000", "UMLS:C2931461"]}
{"category": ["biolink:Disease"], "description": "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.", "id": "MONDO:0008006", "name": "Mobius syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MBS", "Mobius syndrome", "Moebius Syndrome", "Moebius sequence", "Moebius syndrome", "Moebius syndrome, Isolated cases", "Möbius syndrome", "congenital facial diplegia", "oromandibular-limb hypogenesis spectrum"], "xref": ["DOID:13501", "GARD:0008549", "ICD9:759.89", "MEDGEN:66357", "MESH:D020331", "MedDRA:10027789", "MedDRA:10030069", "NANDO:1200559", "NANDO:2200980", "NCIT:C84893", "NORD:1453", "OMIM:157900", "Orphanet:570", "SCTID:89444000", "UMLS:C0221060"]}
{"category": ["biolink:Disease"], "description": "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.", "id": "MONDO:0008007", "name": "Tooth ankylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ankylosis (disease) of calcareous tooth", "ankylosis of teeth", "ankylosis of tooth", "calcareous tooth ankylosis (disease)"], "xref": ["DOID:12661", "GARD:0000701", "ICD10CM:K03.5", "ICD9:521.6", "MEDGEN:57843", "MESH:D020254", "MedDRA:10044019", "OMIM:157950", "Orphanet:1077", "SCTID:14901003", "UMLS:C0155930", "icd11.foundation:2066427602"]}
{"category": ["biolink:Disease"], "description": "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.", "id": "MONDO:0008008", "name": "Momo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOMO syndrome", "macrocephaly-obesity-mental disability-ocular abnormalities syndrome", "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"], "xref": ["GARD:0000178", "MEDGEN:371897", "MESH:C535812", "OMIM:157980", "Orphanet:2563", "SCTID:724137002", "UMLS:C1834759"]}
{"category": ["biolink:Disease"], "description": "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.", "id": "MONDO:0008009", "name": "Monilethrix", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["monilethrix", "moniliform hair syndrome"], "xref": ["DOID:0050472", "GARD:0000093", "MEDGEN:108185", "MESH:D056734", "NCIT:C84894", "NORD:1454", "OMIMPS:158000", "Orphanet:573", "SCTID:69488000", "UMLS:C0546966", "icd11.foundation:415074833"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008010", "name": "Antigen defined by monoclonal antibody aj9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["antigen defined by monoclonal antibody Aj9"], "xref": ["MEDGEN:371896", "OMIM:158030", "UMLS:C1834757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008011", "name": "Antigen defined by monoclonal antibody t87", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["antigen defined by monoclonal antibody T87"], "xref": ["MEDGEN:331821", "OMIM:158040", "UMLS:C1834756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008012", "name": "Monophalangy of great toe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Monophalangy of great toe"], "xref": ["MEDGEN:320429", "MESH:C563570", "OMIM:158100", "UMLS:C1834753"]}
{"category": ["biolink:Disease"], "description": "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.", "id": "MONDO:0008013", "name": "Chromosome 9p deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["9p deletion", "9p deletion syndrome", "9p monosomy", "9p- syndrome", "Alfi syndrome", "chromosome 9p deletion", "deletion 9p", "monosomy 9p", "monosomy 9p syndrome", "monosomy type 9p", "partial deletion of chromosome 9p", "partial deletion of the short arm of chromosome 9", "partial deletion of the short arm of chromosome type 9", "partial monosomy 9p", "partial monosomy of chromosome 9p", "partial monosomy of the short arm of chromosome 9"], "xref": ["DOID:0060732", "GARD:0003773", "ICD9:758.39", "MEDGEN:167073", "MESH:C538024", "OMIM:158170", "Orphanet:261112", "SCTID:62599000", "UMLS:C0795830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008014", "name": "Nondisjunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nondisjunction"], "xref": ["MEDGEN:320427", "OMIM:158250", "UMLS:C1834741"]}
{"category": ["biolink:Disease"], "description": "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.", "id": "MONDO:0008015", "name": "Motion sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["motion sickness", "travel sickness"], "xref": ["DOID:2951", "ICD10CM:T75.3", "ICD9:994.6", "MEDGEN:44503", "MESH:D009041", "OMIM:158280", "UMLS:C0026603", "icd11.foundation:1078108554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008016", "name": "Trismus-pseudocamptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dutch-Kentucky syndrome", "Hecht syndrome", "Hecht-Beals syndrome", "distal arthrogryposis type 7", "trismus-pseudocamptodactyly syndrome"], "xref": ["DOID:0111603", "GARD:0002621", "ICD9:759.89", "MEDGEN:78540", "MESH:C535857", "NORD:1795", "OMIM:158300", "Orphanet:3377", "SCTID:8757006", "UMLS:C0265226"]}
{"category": ["biolink:Disease"], "description": "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.", "id": "MONDO:0008017", "name": "Hereditary mucoepithelial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HMD", "Urban-Schosser-Spohn syndrome", "mucoepithelial dysplasia, hereditary"], "xref": ["GARD:0005427", "ICD9:478.79", "MEDGEN:220887", "MESH:C536476", "OMIM:158310", "Orphanet:1839", "SCTID:403442005", "UMLS:C1274795", "icd11.foundation:1167609602"]}
{"category": ["biolink:Disease"], "description": "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.", "id": "MONDO:0008018", "name": "Muir-torre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Muir-Torre syndrome", "multiple keratoacanthoma, Muir-Torre type"], "xref": ["DOID:0050465", "GARD:0006821", "MEDGEN:231157", "MESH:D055653", "MedDRA:10063042", "NCIT:C84905", "OMIM:158320", "Orphanet:587", "SCTID:403824007", "UMLS:C1321489", "icd11.foundation:229304403"]}
{"category": ["biolink:Disease"], "description": "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.", "id": "MONDO:0008019", "name": "Mullerian aplasia and hyperandrogenism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mullerian duct failure and hyperandrogenism", "Müllerian duct failure and hyperandrogenism", "WNT4 Deficiency", "WNT4 deficiency", "mullerian aplasia and hyperandrogenism"], "xref": ["DOID:0111526", "GARD:0017195", "MEDGEN:390686", "MESH:C567186", "NCIT:C120376", "NORD:1858", "OMIM:158330", "Orphanet:247768", "UMLS:C2675014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008020", "name": "Multiple exostoses with spastic tetraparesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["multiple exostoses with spastic tetraparesis"], "xref": ["GARD:0000291", "MEDGEN:371889", "MESH:C563566", "OMIM:158345", "UMLS:C1834724"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.", "id": "MONDO:0008021", "name": "Cowden syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in PTEN", "Cowden syndrome 1", "Cowden syndrome type 1", "Lhermitte-Duclos syndrome", "PTEN Cowden disease"], "xref": ["GARD:0016450", "OMIM:158350"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008022", "name": "Muscle cramps, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscle cramps, familial"], "xref": ["MEDGEN:371885", "MESH:C563563", "OMIM:158400", "UMLS:C1834708"]}
{"category": ["biolink:Disease"], "description": "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.", "id": "MONDO:0008023", "name": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Furukawa-Takagi-Nakao syndrome"], "xref": ["GARD:0002417", "ICD9:728.2", "MEDGEN:137966", "OMIM:158500", "Orphanet:2579", "SCTID:237611007", "UMLS:C0342281"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.", "id": "MONDO:0008024", "name": "Neuronopathy, distal hereditary motor, type 7a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SLC5A7 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in SLC5A7"], "xref": ["DOID:0111201", "GARD:0018269", "MEDGEN:322474", "MESH:C563562", "OMIM:158580", "UMLS:C1834703"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography.", "id": "MONDO:0008025", "name": "Neuronopathy, distal hereditary motor, type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSPB8 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in HSPB8"], "xref": ["DOID:0111208", "GARD:0018262", "MEDGEN:322471", "MESH:C563561", "OMIM:158590", "UMLS:C1834692"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008026", "name": "Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures", "SMALED1", "spinal muscular atrophy, lower extremity-predominant 1, AD"], "xref": ["DOID:0070351", "GARD:0013519", "MEDGEN:1830501", "MESH:C563560", "OMIM:158600", "Orphanet:209341", "UMLS:C5780022"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008027", "name": "Muscular atrophy, malignant neurogenic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular atrophy, malignant neurogenic"], "xref": ["MEDGEN:322469", "MESH:C563559", "OMIM:158650", "UMLS:C1834689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008028", "name": "Muscular dystrophy, barnes type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, Barnes type"], "xref": ["GARD:0024595", "MEDGEN:322468", "MESH:C563558", "OMIM:158800", "UMLS:C1834688"]}
{"category": ["biolink:Disease"], "description": "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.", "id": "MONDO:0008029", "name": "Bethlem myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Bethlem myopathy type 1", "benign autosomal dominant myopathy"], "xref": ["DOID:0050663", "GARD:0000873", "MEDGEN:331805", "MESH:C535436", "NANDO:1200220", "NCIT:C126688", "OMIMPS:158810", "Orphanet:610", "SCTID:718572004", "UMLS:C1834674", "icd11.foundation:72734329"]}
{"category": ["biolink:Disease"], "description": "Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.", "id": "MONDO:0008030", "name": "Facioscapulohumeral muscular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSHD", "FSHD1", "FSHD1A", "Landouzy-Dejerine muscular dystrophy", "facioscapulohumeral muscular dystrophy 1", "facioscapulohumeral muscular dystrophy 1A", "facioscapulohumeral muscular dystrophy type 1", "muscular dystrophy, facioscapulohumeral, type 1A"], "xref": ["DOID:0111192", "GARD:0015087", "MEDGEN:1727901", "MESH:C536391", "NCIT:C172704", "OMIM:158900", "UMLS:C5399970"]}
{"category": ["biolink:Disease"], "description": "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.", "id": "MONDO:0008031", "name": "Facioscapulohumeral muscular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMCHD1 facioscapulohumeral muscular dystrophy", "facioscapulohumeral muscular dystrophy 2", "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1", "facioscapulohumeral muscular dystrophy type 2", "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant"], "xref": ["DOID:0111193", "GARD:0015088", "MEDGEN:320405", "MESH:C563557", "NCIT:C172705", "OMIM:158901", "UMLS:C1834671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008034", "name": "Muscular dystrophy, pseudohypertrophic, with internalized capillaries", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, pseudohypertrophic, with Internalized capillaries"], "xref": ["GARD:0015089", "MEDGEN:320399", "MESH:C563554", "OMIM:159050", "UMLS:C1834652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008035", "name": "Muscular hypoplasia, congenital universal, of krabbe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular hypoplasia, congenital universal, of Krabbe"], "xref": ["MEDGEN:320398", "MESH:C563553", "OMIM:159100", "UMLS:C1834651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008036", "name": "Myasthenia, limb-girdle, autoimmune", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myasthenia, limb-girdle, autoimmune"], "xref": ["GARD:0008575", "MEDGEN:331795", "MESH:C563552", "OMIM:159400", "UMLS:C1834635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008037", "name": "Myelinated optic nerve fibers", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myelinated optic nerve fibers"], "xref": ["MEDGEN:320388", "OMIM:159500", "UMLS:C1834600"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.", "id": "MONDO:0008038", "name": "Ataxia-pancytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ataxia-pancytopenia syndrome", "myelocerebellar disorder"], "xref": ["GARD:0003865", "MEDGEN:230896", "MESH:C563233", "NCIT:C176909", "OMIM:159550", "Orphanet:2585", "SCTID:768556005", "UMLS:C1327919"]}
{"category": ["biolink:Disease"], "description": "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.", "id": "MONDO:0008039", "name": "Tropical spastic paraparesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HAM/TSP", "HTLV-1-associated myelopathy/tropical spastic paraparesis", "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis", "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis", "TSP", "ham/TSP", "tropical spastic paraplegia"], "xref": ["DOID:321", "EFO:0007527", "GARD:0008208", "ICD10CM:G04.1", "ICD9:323.01", "MEDGEN:18298", "MESH:D015493", "MedDRA:10044696", "NANDO:1200206", "OMIM:159580", "Orphanet:289326", "SCTID:714279000", "UMLS:C0030481", "icd11.foundation:1043229589"]}
{"category": ["biolink:Disease"], "description": "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.", "id": "MONDO:0008040", "name": "Transient myeloproliferative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MST", "TAM", "TMD", "Transient abnormal myelopoiesis associated with Down syndrome", "leukemia, transient, of Down syndrome", "transient abnormal myelopoiesis", "transient leukaemia", "transient leurkemia of Down syndrome", "transient myeloproliferative disease", "transient myeloproliferative disorder", "transient myeloproliferative syndrome", "transient myeloproliferative syndrome (disease)"], "xref": ["DOID:0060888", "GARD:0012765", "HP:0005534", "ICDO:9898/1", "MEDGEN:331782", "MESH:C563551", "NCIT:C82339", "OMIM:159595", "ONCOTREE:TAM", "Orphanet:420611", "SCTID:721307000", "UMLS:C1834582"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008041", "name": "Myoclonic epilepsy, hartung type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myoclonic epilepsy, Hartung type"], "xref": ["GARD:0024596", "MEDGEN:371857", "MESH:C563550", "OMIM:159600", "UMLS:C1834581"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.", "id": "MONDO:0008043", "name": "Myoclonus-cerebellar ataxia-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003873", "MEDGEN:331780", "MESH:C563549", "OMIM:159800", "Orphanet:2589", "UMLS:C1834579"]}
{"category": ["biolink:Disease"], "description": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.", "id": "MONDO:0008044", "name": "Myoclonic dystonia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SGCE myoclonus-dystonia syndrome", "alcohol-responsive dystonia", "dystonia-11, myoclonic", "myoclonic dystonia 11", "myoclonic dystonia type 11", "myoclonus-dystonia syndrome caused by mutation in SGCE"], "xref": ["DOID:0090034", "GARD:0018616", "MEDGEN:331778", "OMIM:159900", "UMLS:C1834570"]}
{"category": ["biolink:Disease"], "description": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.", "id": "MONDO:0008045", "name": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jankovic-Rivera syndrome", "hereditary myoclonus-progressive distal muscular atrophy syndrome"], "xref": ["DOID:0111527", "GARD:0003875", "ICD9:345.10", "MEDGEN:371854", "MESH:C537563", "OMIM:159950", "Orphanet:2590", "SCTID:703524005", "UMLS:C1834569"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.", "id": "MONDO:0008046", "name": "Autosomal dominant myoglobinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["myoglobinuria, autosomal dominant"], "xref": ["GARD:0016917", "MEDGEN:320384", "MESH:C563546", "OMIM:160010", "Orphanet:99846", "SCTID:725903003", "UMLS:C1834567", "icd11.foundation:149859272"]}
{"category": ["biolink:Disease"], "description": "A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.", "id": "MONDO:0008047", "name": "Episodic ataxia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EA1", "Isaacs-Mertens syndrome", "KCNA1 hereditary episodic ataxia", "acetazolamide-responsive periodic ataxia", "ataxia, episodic, with myokymia", "continuous muscle fiber activity", "episodic ataxia with myokymia", "episodic ataxia, type 1", "episodic ataxia/myokymia syndrome", "familial paroxysmal kinesigenic ataxia and continuous myokymia", "hereditary episodic ataxia caused by mutation in KCNA1", "hereditary paroxysmal ataxia with neuromyotonia", "myokymia with episodic ataxia", "myokymia with periodic ataxia", "paroxysmal ataxia with neuromyotonia, hereditary"], "xref": ["DOID:0050989", "GARD:0016641", "MEDGEN:318554", "OMIM:160120", "Orphanet:37612", "SCTID:421182009", "UMLS:C1719788"]}
{"category": ["biolink:Disease"], "description": "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.", "id": "MONDO:0008048", "name": "Autosomal dominant centronuclear myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["AD-CNM", "CNM1", "autosomal dominant centronuclear myopathy", "autosomal dominant centronuclear myopathy caused by mutation in MYF6", "centronuclear myopathy 1", "centronuclear myopathy, autosomal dominant", "centronuclear myopathy, autosomal, modifier of", "myopathy, centronuclear, 1", "myopathy, centronuclear, 3", "myopathy, centronuclear, autosomal dominant", "myopathy, centronuclear, type 1", "myopathy, centronuclear, type 3", "myotubular myopathy, autosomal dominant"], "xref": ["DOID:0111217", "DOID:0111223", "GARD:0012719", "MEDGEN:1645741", "NCIT:C126689", "OMIM:160150", "OMIM:614408", "Orphanet:169189", "SCTID:716696006", "UMLS:C4551952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008049", "name": "Myopathy, distal, infantile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, distal, infantile-onset"], "xref": ["DOID:0070196", "GARD:0024597", "MEDGEN:860162", "OMIM:160300", "UMLS:C4011725"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.", "id": "MONDO:0008050", "name": "Myh7-related skeletal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Laing distal myopathy", "MPD1", "MYH7-related skeletal myopathy", "distal myopathy type 1", "myopathy distal, type 1", "myopathy, distal, 1", "myopathy, distal, early-onset, autosomal dominant", "myopathy, distal, type 1", "myopathy, late distal hereditary"], "xref": ["DOID:0070197", "GARD:0010769", "MEDGEN:1647391", "OMIM:160500", "Orphanet:59135", "SCTID:764859001", "UMLS:C4552004"]}
{"category": ["biolink:Disease"], "description": "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.", "id": "MONDO:0008051", "name": "Tubular aggregate myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["myopathy, tubular aggregate, type 1", "tubular aggregate myopathy"], "xref": ["DOID:0080089", "GARD:0003884", "MEDGEN:98050", "OMIMPS:160565", "Orphanet:2593", "UMLS:C0410207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008052", "name": "Myopathy with storage of glycoproteins and glycosaminoglycans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopathy with storage of glycoproteins and Glycosaminoglycans"], "xref": ["MEDGEN:371846", "MESH:C563542", "OMIM:160570", "UMLS:C1834532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008053", "name": "Myopia 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP2", "myopia 2, autosomal dominant"], "xref": ["MEDGEN:331770", "MESH:C563541", "OMIM:160700", "UMLS:C1834531"]}
{"category": ["biolink:Disease"], "description": "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.", "id": "MONDO:0008054", "name": "Juvenile dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood dermatomyositis", "inflammation of myoseptum", "juvenile DM", "juvenile dermatomyositis", "myoseptum inflammation", "myoseptumitis"], "xref": ["DOID:14203", "EFO:0000557", "GARD:0006805", "ICD10CM:M33.0", "MEDGEN:120486", "MESH:C000598745", "MedDRA:10008521", "NANDO:2200418", "NCIT:C27576", "Orphanet:93672", "SCTID:1212005", "UMLS:C0263666", "icd11.foundation:1428089375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008055", "name": "Myotonia congenita, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Thomsen disease", "myotonia congenita, autosomal dominant", "myotonia congenita, dominant"], "xref": ["DOID:0081336", "GARD:0006176", "ICD9:359.29", "MEDGEN:422446", "OMIM:160800", "SCTID:57938005", "SCTID:8960007", "UMLS:C2936781"]}
{"category": ["biolink:Disease"], "description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.", "id": "MONDO:0008056", "name": "Myotonic dystrophy type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DM1", "DMPK myotonic dystrophy", "MD1", "Steinert disease", "Steinert myotonic dystrophy syndrome", "Steinert syndrome", "dystrophia myotonica", "myotonic dystrophy caused by mutation in DMPK", "myotonic dystrophy type 1"], "xref": ["DOID:11722", "GARD:0008310", "ICD9:359.21", "MEDGEN:886881", "NCIT:C84679", "NORD:1075", "OMIM:160900", "Orphanet:273", "UMLS:C3250443", "icd11.foundation:557405480"]}
{"category": ["biolink:Disease"], "description": "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.", "id": "MONDO:0008057", "name": "Carney complex, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Carney complex caused by mutation in PRKAR1A", "Carney complex, type 1", "PRKAR1A Carney complex"], "xref": ["GARD:0015090", "MEDGEN:388559", "OMIM:160980", "UMLS:C2607929"]}
{"category": ["biolink:Disease"], "description": "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.", "id": "MONDO:0008058", "name": "Cylindrical spirals myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080103", "GARD:0011906", "MEDGEN:371817", "MESH:C563535", "OMIM:160990", "Orphanet:171886", "SCTID:764525006", "UMLS:C1834418", "icd11.foundation:1555346098"]}
{"category": ["biolink:Disease"], "description": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.", "id": "MONDO:0008059", "name": "Naegeli-franceschetti-jadassohn syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NFJ syndrome", "Naegeli syndrome", "Naegeli-Franceschetti-Jadassohn syndrome"], "xref": ["DOID:0111528", "GARD:0003912", "MEDGEN:91010", "MESH:C538331", "OMIM:161000", "Orphanet:69087", "SCTID:239084001", "UMLS:C0343111", "icd11.foundation:352035640"]}
{"category": ["biolink:Disease"], "description": "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.", "id": "MONDO:0008060", "name": "Nonsyndromic congenital nail disorder 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FZD6 inherited isolated nail anomaly", "inherited isolated nail anomaly caused by mutation in FZD6", "nail disorder, nonsyndromic congenital, type 10", "nonsyndromic congenital nail disorder 10", "nonsyndromic congenital nail disorder type 1", "nonsyndromic congenital nail disorder type 10", "onychodystrophy totalis", "twenty-nail dystrophy"], "xref": ["DOID:0080079", "DOID:0080088", "GARD:0010363", "ICD9:703.8", "MEDGEN:96056", "MESH:C562907", "OMIM:161050", "Orphanet:79153", "SCTID:238719003", "UMLS:C0406443"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.", "id": "MONDO:0008061", "name": "Nail-patella syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fong disease", "NPS 1", "NPS1", "Nail Patella Syndrome", "Turner-Kieser syndrome", "hereditary Osteo-onychodysplasia", "nail-patella syndrome", "onychoosteodysplasia", "osteo-onychodysplasia"], "xref": ["DOID:9467", "GARD:0007160", "ICD9:759.89", "MEDGEN:10257", "MESH:D009261", "MedDRA:10063431", "NANDO:1200967", "NANDO:2200132", "NCIT:C75120", "NORD:1488", "OMIM:161200", "Orphanet:2614", "SCTID:22199006", "UMLS:C0027341", "icd11.foundation:1121867410"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.", "id": "MONDO:0008062", "name": "Narcolepsy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["HCRT narcolepsy", "narcolepsy 1", "narcolepsy caused by mutation in HCRT"], "xref": ["GARD:0015091", "MEDGEN:371809", "MESH:C563534", "NCIT:C84618", "OMIM:161400", "SCTID:46263000", "UMLS:C1834372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008063", "name": "Nasal alar collapse, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nasal alar collapse, bilateral"], "xref": ["MEDGEN:331728", "MESH:C563533", "OMIM:161470", "UMLS:C1834371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008064", "name": "Nasal bones, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nasal bones, absence of"], "xref": ["MEDGEN:90946", "MESH:C562753", "OMIM:161480", "UMLS:C0339851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008065", "name": "Nasal groove, familial transverse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nasal groove, familial transverse"], "xref": ["MEDGEN:322400", "OMIM:161500", "UMLS:C1834370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008066", "name": "Nasal hyperpigmentation, familial transverse", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nasal hyperpigmentation, familial transverse"], "xref": ["MEDGEN:331727", "OMIM:161530", "UMLS:C1834369"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008067", "name": "Nasopharyngeal carcinoma, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["nasopharyngeal carcinoma, susceptibility to, 2", "nasopharyngeal carcinoma, susceptibility to, type 2"], "xref": ["GARD:0027785", "MEDGEN:413336", "OMIM:161550", "UMLS:C2750548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008069", "name": "Necrotizing encephalomyelopathy, subacute, of leigh, adult", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["necrotizing encephalomyelopathy, subacute, of Leigh, adult"], "xref": ["GARD:0024598", "MEDGEN:331718", "MESH:C563530", "OMIM:161700", "UMLS:C1834340"]}
{"category": ["biolink:Disease"], "description": "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.", "id": "MONDO:0008070", "name": "Congenital myopathy 2a, typical, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ACTA1 nemaline myopathy", "CMYO2A", "actin accumulation myopathy", "actin accumulation myopathy (disorder)", "actin myopathy", "congenital myopathy 2a, typical, autosomal dominant", "congenital myopathy with excess of thin filaments", "nemaline myopathy caused by mutation in ACTA1", "nemaline myopathy type 3"], "xref": ["DOID:0110927", "GARD:0010111", "MEDGEN:777997", "MESH:C579880", "MESH:C580202", "NCIT:C129870", "OMIM:161800", "Orphanet:98904", "SCTID:702349003", "UMLS:C3711389"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008071", "name": "Autosomal dominant progressive nephropathy with hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nephropathy-hypertension"], "xref": ["GARD:0016772", "ICD9:583.9", "MEDGEN:98012", "MESH:C562889", "OMIM:161900", "Orphanet:88659", "SCTID:703310005", "UMLS:C0403443", "icd11.foundation:1997246041"]}
{"category": ["biolink:Disease"], "description": "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.", "id": "MONDO:0008073", "name": "Familial juvenile hyperuricemic nephropathy type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["ADTKD-UMOD", "Autosomal Dominant Tubulo-Interstitial Kidney Disease", "FJHN type 1", "HNFJ1", "UMOD familial juvenile hyperuricemic nephropathy", "UMOD-associated FJHN", "UMOD-associated familial juvenile hyperuricemic nephropathy", "UMOD-related ADTKD", "UMOD-related kidney disease", "autosomal dominant medullary cystic kidney disease type 2", "autosomal dominant medullary cystic kidney disease with hyperuricemia", "autosomal dominant tubulointerstitial kidney disease - UMOD", "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD", "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD", "glomerulocystic kidney disease with hyperuricemia and isosthenuria", "hyperuricemic nephropathy, familial juvenile, 1", "hyperuricemic nephropathy, familial juvenile, type 1", "medullary cystic kidney disease 2", "medullary cystic kidney disease type 2", "medullary cystic kidney disease type II", "tubulointerstitial kidney disease, autosomal dominant, 1", "uromodulin storage disease", "uromodulin-associated kidney disease"], "xref": ["DOID:0061122", "GARD:0010679", "MEDGEN:1645893", "MESH:C563693", "NCIT:C123172", "NORD:827", "OMIM:162000", "OMIM:603860", "OMIM:609886", "Orphanet:209886", "Orphanet:88950", "SCTID:445503007", "UMLS:C4551496"]}
{"category": ["biolink:Disease"], "description": "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.", "id": "MONDO:0008075", "name": "Schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["NF3", "Neurinomatosis", "Schwannomatosis", "neurilemmomatosis", "neurofibromatosis type 3", "schwannomatosis"], "xref": ["DOID:3204", "GARD:0004768", "ICD10CM:Q85.03", "ICD9:237.73", "ICDO:9560/1", "MEDGEN:234775", "NCIT:C6557", "OMIMPS:162091", "Orphanet:93921", "UMLS:C1335929"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.", "id": "MONDO:0008076", "name": "Amyotrophic neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["amyotrophy, hereditary neuralgic", "amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "brachial plexus neuropathy, hereditary", "hereditary brachial plexus neuropathy", "hereditary neuralgic amyotrophy", "neuritis with brachial predilection"], "xref": ["DOID:10383", "GARD:0003955", "ICD9:353.5", "MEDGEN:320318", "OMIM:162100", "SCTID:26609002", "UMLS:C1834304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008078", "name": "Neurofibromatosis, familial spinal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["neurofibromatosis, familial spinal"], "xref": ["DOID:0070482", "GARD:0024599", "MEDGEN:320296", "MESH:C563523", "OMIM:162210", "UMLS:C1834235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008079", "name": "Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome"], "xref": ["GARD:0010543", "MEDGEN:331696", "MESH:C563522", "OMIM:162240", "UMLS:C1834232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008080", "name": "Neurofibromatosis, type iii, mixed central and peripheral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["neurofibromatosis, type III, mixed central and peripheral"], "xref": ["GARD:0015094", "MEDGEN:419422", "MESH:C537389", "OMIM:162260", "SCTID:254240003", "UMLS:C2931480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008081", "name": "Neurofibromatosis, type iv, of riccardi", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["neurofibromatosis type 4", "neurofibromatosis type IV", "neurofibromatosis, type IV, of Riccardi", "type IV neurofibromatosis of Riccardi"], "xref": ["GARD:0024600", "MEDGEN:67393", "MESH:C537392", "OMIM:162270", "UMLS:C0220695"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas.", "id": "MONDO:0008082", "name": "Multiple endocrine neoplasia type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MEN2B", "RET-related multiple endocrine neoplasia type 2B", "Wagenmann-Froboese syndrome", "men 2B", "men IIB", "men type 2B", "men type IIB", "multiple endocrine adenomatosis type IIB", "multiple endocrine neoplasia IIB", "multiple endocrine neoplasia type 2B", "multiple endocrine neoplasia type 3", "multiple endocrine neoplasia type IIB", "multiple endocrine neoplasia type III", "multiple endocrine neoplasia, type III"], "xref": ["DOID:10016", "GARD:0010225", "ICD9:237.4", "ICD9:258.03", "MEDGEN:9959", "MESH:D018814", "MedDRA:10056420", "NANDO:2201053", "NCIT:C3227", "OMIM:162300", "Orphanet:247709", "SCTID:61530001", "UMLS:C0025269", "icd11.foundation:1754393919"]}
{"category": ["biolink:Disease"], "description": "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.", "id": "MONDO:0008083", "name": "Ceroid lipofuscinosis, neuronal, 4 (kufs type)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN4", "autosomal dominant Kufs disease", "ceroid lipofuscinosis, neuronal, 4 (Kufs type)", "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant", "neuronal ceroid lipofuscinosis type 4B", "neuronal ceroid lipofuscinosis, parry type"], "xref": ["DOID:0110720", "GARD:0001222", "MEDGEN:320287", "NCIT:C128116", "OMIM:162350", "Orphanet:228343", "UMLS:C1834207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008084", "name": "Neuropathy, congenital, with arthrogryposis multiplex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy, congenital, with arthrogryposis multiplex"], "xref": ["MEDGEN:320286", "MESH:C535714", "OMIM:162370", "UMLS:C1834206"]}
{"category": ["biolink:Disease"], "description": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.", "id": "MONDO:0008086", "name": "Neuropathy, hereditary sensory and autonomic, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSAN1A", "SPTLC1 hereditary sensory and autonomic neuropathy type 1", "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1"], "xref": ["DOID:0070152", "GARD:0015095", "MEDGEN:1716450", "OMIM:162400", "UMLS:C5235211"]}
{"category": ["biolink:Disease"], "description": "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.", "id": "MONDO:0008087", "name": "Hereditary neuropathy with liability to pressure palsies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HNPP", "Tomaculous neuropathy", "current pressure-sensitive neuropathy", "hereditary liability to pressure palsies", "hereditary neuropathy with liability to pressure palsies", "heterozygous microdeletion 17p11.2p12", "neuropathy, recurrent, with pressure palsies", "potato-grubbing palsy", "tomaculous neuropathy", "tulip-bulb digger's palsy"], "xref": ["DECIPHER:31", "DOID:0060843", "GARD:0005221", "MEDGEN:98291", "MESH:C536965", "MedDRA:10069382", "OMIM:162500", "Orphanet:640", "SCTID:230558006", "UMLS:C0393814", "icd11.foundation:2126843932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008088", "name": "Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy, with paraprotein in serum, cerebrospinal fluid and urine"], "xref": ["MEDGEN:371758", "MESH:C563516", "OMIM:162600", "UMLS:C1834180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008089", "name": "Neutropenia, chronic familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neutropenia, chronic familial"], "xref": ["ICD9:288.09", "MEDGEN:777137", "MESH:C535815", "OMIM:162700", "SCTID:234576008", "UMLS:C3665676"]}
{"category": ["biolink:Disease"], "description": "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.", "id": "MONDO:0008090", "name": "Cyclic hematopoiesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CH", "CN", "cyclic agranulocytosis", "cyclic hematopoiesis", "dysplasia, myelocytic periodic", "neutropenia, cyclic", "periodic neutropenia"], "xref": ["DOID:5339", "GARD:0006229", "ICD10CM:D70.4", "ICD9:288.02", "MEDGEN:65121", "MESH:C536227", "MedDRA:10053176", "NANDO:1200354", "NANDO:2200746", "NCIT:C3820", "OMIM:162800", "Orphanet:2686", "SCTID:191347008", "UMLS:C0221023"]}
{"category": ["biolink:Disease"], "description": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.", "id": "MONDO:0008092", "name": "Hereditary neutrophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0090120", "GARD:0017287", "MEDGEN:154252", "MESH:C563010", "OMIM:162830", "Orphanet:279943", "SCTID:129639005", "UMLS:C0543669"]}
{"category": ["biolink:Disease"], "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.", "id": "MONDO:0008093", "name": "Nevus, epidermal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["Epidermal Nevus", "epidermal nevus, somatic", "nevus sebaceous or woolly hair nevus, somatic", "nevus sebaceous or wooly hair nevus, somatic", "nevus, epidermal", "nevus, epidermal, somatic"], "xref": ["DOID:0111162", "GARD:0024601", "MEDGEN:83106", "MESH:C580062", "NCIT:C4088", "OMIM:162900", "UMLS:C0334082"]}
{"category": ["biolink:Disease"], "description": "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.", "id": "MONDO:0008094", "name": "Familial multiple nevi flammei", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nevus flammeus", "Salmon patch Nevus", "capillary malformations, congenital, 1, somatic, mosaic", "familial multiple port-wine stains", "port wine Nevus", "port wine birthmark", "port wine stain", "port wine stain of skin", "port wine stain of the skin", "port wine type hemangioma", "port-wine stain of skin"], "xref": ["DOID:0111529", "GARD:0003986", "MEDGEN:419699", "MedDRA:10067193", "NCIT:C3840", "OMIM:163000", "Orphanet:624", "SCTID:416377005", "UMLS:C2931029"]}
{"category": ["biolink:Disease"], "description": "A capillary vascular anomaly that is characterized by hypopigmented macules.", "id": "MONDO:0008095", "name": "Nevus anemicus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Nevus anemicus", "anemicus Nevus", "nevus anemicus (disease)"], "xref": ["HP:0025105", "ICD9:709.09", "MEDGEN:82725", "NCIT:C3943", "OMIM:163050", "SCTID:40929003", "UMLS:C0265982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008096", "name": "Nevus flammeus of nape of neck", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nevus flammeus of nape of neck"], "xref": ["MEDGEN:437278", "MESH:C567524", "OMIM:163100", "UMLS:C2697447"]}
{"category": ["biolink:Disease"], "description": "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).", "id": "MONDO:0008097", "name": "Linear nevus sebaceous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nevus Sebaceus Syndrome", "Nevus sebaceous of Jadassohn", "Nevus sebaceus of Jadassohn", "Nevus sebaceus syndrome", "Schimmelpenning syndrome", "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic", "Solomon syndrome", "linear sebaceous Nevus", "organoid Nevus", "organoid nevus syndrome"], "xref": ["DOID:0111530", "GARD:0010291", "MEDGEN:1646345", "NCIT:C4678", "NORD:1692", "OMIM:163200", "Orphanet:2612", "UMLS:C4552097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008098", "name": "Mesomelic dwarfism, nievergelt type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nievergelt syndrome"], "xref": ["GARD:0003554", "MEDGEN:98478", "MESH:C536120", "OMIM:163400", "Orphanet:2633", "SCTID:33979003", "UMLS:C0432231", "icd11.foundation:2034257092"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.", "id": "MONDO:0008099", "name": "Congenital stationary night blindness autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNBAD2", "PDE6B congenital stationary night blindness", "congenital stationary night blindness autosomal dominant type 2", "congenital stationary night blindness caused by mutation in PDE6B", "night blindness, congenital stationary, autosomal dominant type 2"], "xref": ["DOID:0110863", "GARD:0015096", "MEDGEN:361814", "MESH:C566869", "OMIM:163500", "UMLS:C1876182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008100", "name": "Nipples inverted", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nipples inverted"], "xref": ["MEDGEN:82844", "OMIM:163600", "UMLS:C0269269"]}
{"category": ["biolink:Disease"], "description": "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.", "id": "MONDO:0008101", "name": "Familial supernumerary nipples", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated polythelia"], "xref": ["MEDGEN:120564", "OMIM:163700", "Orphanet:2456", "UMLS:C0266011"]}
{"category": ["biolink:Disease"], "description": "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.", "id": "MONDO:0008102", "name": "Sick sinus syndrome 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HCN4 sick sinus syndrome", "sick sinus syndrome 2, autosomal dominant", "sick sinus syndrome caused by mutation in HCN4"], "xref": ["GARD:0018284", "MEDGEN:320273", "MESH:C563513", "OMIM:163800", "UMLS:C1834144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008103", "name": "Noduli cutanei, multiple, with urinary tract abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["noduli Cutanei, multiple, with urinary tract abnormalities"], "xref": ["MEDGEN:371746", "MESH:C563512", "OMIM:163850", "UMLS:C1834143"]}
{"category": ["biolink:Disease"], "description": "Noonan syndrome caused by mutations in the PTPN11 gene.", "id": "MONDO:0008104", "name": "Noonan syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS1", "Noonan syndrome 1", "Noonan syndrome type 1"], "xref": ["DOID:0060578", "GARD:0007223", "MEDGEN:1638960", "NCIT:C75459", "OMIM:163950", "UMLS:C4551602"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008105", "name": "Nose, anomalous shape of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nose, anomalous shape of"], "xref": ["MEDGEN:331668", "MESH:C538354", "OMIM:164000", "UMLS:C1834118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008106", "name": "Nystagmus 2, congenital, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NYS2"], "xref": ["DOID:0111792", "MEDGEN:331657", "MESH:C537854", "OMIM:164100", "UMLS:C1834079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008107", "name": "Nystagmus, hereditary vertical", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nystagmus, hereditary vertical"], "xref": ["MEDGEN:322336", "MESH:C537857", "OMIM:164150", "UMLS:C1834078"]}
{"category": ["biolink:Disease"], "description": "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.", "id": "MONDO:0008108", "name": "Oculocerebrocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Delleman syndrome", "Delleman-Oorthuys syndrome", "Leichtman-Wood-Rohn syndrome", "OCCS", "oculocerebrocutaneous syndrome", "orbital cyst with cerebral and focal dermal malformations"], "xref": ["GARD:0000106", "ICD9:759.89", "MEDGEN:163214", "MESH:C538088", "NORD:1521", "OMIM:164180", "Orphanet:1647", "SCTID:403554008", "UMLS:C0796092"]}
{"category": ["biolink:Disease"], "description": "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.", "id": "MONDO:0008109", "name": "Ocular cicatricial pemphigoid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ocular cicatricial pemphigoid", "ocular pemphigoid"], "xref": ["EFO:0008610", "GARD:0008759", "MEDGEN:266181", "MedDRA:10067776", "NCIT:C84939", "OMIM:164185", "Orphanet:99922", "SCTID:314757003", "SCTID:34250006", "UMLS:C1282359", "icd11.foundation:953963439"]}
{"category": ["biolink:Disease"], "description": "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.", "id": "MONDO:0008111", "name": "Oculodentodigital dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculo-Dento-Digital Dysplasia", "oculo-dento-digital dysplasia", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome"], "xref": ["DOID:0060291", "GARD:0007239", "ICD9:759.89", "MEDGEN:167236", "MESH:C563160", "MedDRA:10063691", "NORD:1519", "OMIM:164200", "Orphanet:2710", "SCTID:38215007", "UMLS:C0812437"]}
{"category": ["biolink:Disease"], "description": "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.", "id": "MONDO:0008113", "name": "Schilbach-rott syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BRSS", "Schilbach-Rott syndrome", "hypotelorism-cleft palate-hypospadias syndrome"], "xref": ["GARD:0002930", "MEDGEN:371716", "MESH:C563509", "OMIM:164220", "Orphanet:2353", "SCTID:721902002", "UMLS:C1834038"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.", "id": "MONDO:0008114", "name": "Obsessive-compulsive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["obsessive compulsive disorder", "obsessive-compulsive disorder", "obsessive-compulsive disorder, susceptibility to"], "xref": ["DOID:10933", "EFO:0004242", "ICD10CM:F42", "ICD10WHO:F42", "ICD9:300.3", "MEDGEN:14445", "MESH:D009771", "NCIT:C88411", "OMIM:164230", "SCTID:191736004", "UMLS:C0028768", "icd11.foundation:1582741816"]}
{"category": ["biolink:Disease"], "description": "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.", "id": "MONDO:0008115", "name": "Feingold syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Brunner-Winter syndrome type 1", "FGLDS1", "FS1", "Feingold syndrome caused by mutation in MYCN", "Feingold syndrome type 1", "MMT type 1", "MODED syndrome type 1", "MYCN Feingold syndrome", "ODED syndrome type 1", "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1", "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1", "microcephaly-digital anomalies-normal intelligence syndrome type 1", "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1", "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1", "oculo-digito-esophageal-duodenal syndrome type 1"], "xref": ["GARD:0017624", "ICD9:759.89", "MEDGEN:1637716", "OMIM:164280", "Orphanet:391641", "SCTID:702431004", "UMLS:C4551774"]}
{"category": ["biolink:Disease"], "description": "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.", "id": "MONDO:0008116", "name": "Oculopharyngeal muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPMD", "oculopharyngeal muscular dystrophy"], "xref": ["DOID:11719", "GARD:0007245", "MEDGEN:75730", "MESH:D039141", "MedDRA:10052181", "NANDO:1200493", "NORD:1523", "OMIMPS:164300", "Orphanet:270", "SCTID:77097004", "UMLS:C0270952", "icd11.foundation:1354386293"]}
{"category": ["biolink:Disease"], "description": "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.", "id": "MONDO:0008118", "name": "Odontomatosis-aortae esophagus stenosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["boder syndrome"], "xref": ["GARD:0000238", "MEDGEN:320249", "MESH:C537740", "OMIM:164330", "Orphanet:2724", "SCTID:716180009", "UMLS:C1834013"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.", "id": "MONDO:0008119", "name": "Spinocerebellar ataxia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATXN1 autosomal dominant cerebellar ataxia type I", "SCA1", "Sca1", "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1", "spinocerebellar ataxia type 1"], "xref": ["DOID:0050954", "GARD:0004071", "MEDGEN:155703", "NANDO:1200045", "NCIT:C129982", "OMIM:164400", "Orphanet:98755", "SCTID:715748006", "UMLS:C0752120", "icd11.foundation:2071487961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008121", "name": "Onychogryposis, pedal, with keratosis plantaris and coarse hair", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["onychogryposis, pedal, with keratosis plantaris and coarse hair"], "xref": ["MEDGEN:331637", "MESH:C563506", "OMIM:164680", "UMLS:C1833997"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of omodysplasia.", "id": "MONDO:0008123", "name": "Autosomal dominant omodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["omodysplasia, autosomal dominant"], "xref": ["DOID:0080845", "GARD:0003643", "MEDGEN:413823", "MESH:C567664", "OMIM:164745", "Orphanet:93328", "SCTID:725165009", "UMLS:C2750355", "icd11.foundation:1237796148"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008124", "name": "Omphalocele, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["omphalocele due to duplication of 1p31.3, isolated cases", "omphalocele, autosomal"], "xref": ["GARD:0018586", "MEDGEN:478865", "OMIM:164750", "UMLS:C3277235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008125", "name": "Nonsyndromic congenital nail disorder 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonsyndromic congenital nail disorder type 5"], "xref": ["DOID:0080083", "GARD:0024602", "MEDGEN:318994", "MESH:C563503", "OMIM:164800", "UMLS:C1833909"]}
{"category": ["biolink:Disease"], "description": "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.", "id": "MONDO:0008127", "name": "Ophthalmomandibulomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OMM syndrome", "Pillay syndrome", "ophthalmomandibulomelic dysplasia"], "xref": ["GARD:0004365", "MEDGEN:331604", "MESH:C563501", "OMIM:164900", "Orphanet:2741", "SCTID:715484003", "UMLS:C1833872", "icd11.foundation:869046719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008128", "name": "Ophthalmoplegia, familial static", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ophthalmoplegia, familial static"], "xref": ["MEDGEN:371666", "MESH:C563500", "OMIM:165000", "UMLS:C1833839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008129", "name": "Ophthalmoplegia, familial total, with iris transillumination", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ophthalmoplegia, familial total, with iris transillumination"], "xref": ["MEDGEN:371665", "MESH:C563499", "OMIM:165098", "UMLS:C1833836"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008130", "name": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Levic-Stefanovic-Nikolic syndrome", "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"], "xref": ["GARD:0003236", "MEDGEN:318972", "MESH:C563498", "OMIM:165150", "Orphanet:2743", "UMLS:C1833835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008131", "name": "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant"], "xref": ["GARD:0000402", "MEDGEN:331597", "MESH:C563497", "OMIM:165199", "UMLS:C1833831"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008132", "name": "Optic atrophy with demyelinating disease of cns", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["optic atrophy with demyelinating disease of CNS"], "xref": ["DOID:0111756", "GARD:0015098", "MEDGEN:322290", "MESH:C563496", "OMIM:165200", "UMLS:C1833830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008133", "name": "Optic atrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPA3, autosomal dominant", "autosomal dominant optic atrophy type 3", "optic atrophy 3"], "xref": ["DOID:0111433", "GARD:0010203", "MEDGEN:371657", "MESH:C537128", "OMIM:165300", "Orphanet:67036", "SCTID:719517009", "UMLS:C1833809"]}
{"category": ["biolink:Disease"], "description": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.", "id": "MONDO:0008134", "name": "Autosomal dominant optic atrophy, classic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kjer optic atrophy", "autosomal dominant optic atrophy, Kjer type", "optic atrophy type 1"], "xref": ["DOID:0111441", "GARD:0009890", "MEDGEN:137902", "OMIM:165500", "Orphanet:98673", "SCTID:717336005", "UMLS:C0338508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008135", "name": "Optic atrophy 13 with retinal and foveal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["optic atrophy 13 with retinal and foveal abnormalities", "optic atrophy with negative Electroretinograms"], "xref": ["GARD:0024603", "MEDGEN:1768962", "MESH:C563494", "OMIM:165510", "UMLS:C5435585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008136", "name": "Isolated optic nerve hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Optic Nerve Hypoplasia", "familial bilateral optic nerve hypoplasia", "optic nerve hypoplasia, bilateral", "optic nerve hypoplasia, familial bilateral"], "xref": ["DOID:0111531", "GARD:0008419", "MEDGEN:322281", "NORD:1528", "OMIM:165550", "Orphanet:137902", "Orphanet:637061", "SCTID:724999003", "UMLS:C1833797", "icd11.foundation:609162974"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.", "id": "MONDO:0008137", "name": "Orofaciodigital syndrome x", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Figuera syndrome", "OFD10", "oral-facial-digital syndrome type 10", "orofaciodigital syndrome X", "orofaciodigital syndrome type 10", "orofaciodigital syndrome type X", "orofaciodigital syndrome with fibular aplasia"], "xref": ["DOID:0060380", "GARD:0004061", "MEDGEN:322280", "MESH:C563491", "OMIM:165590", "Orphanet:2756", "SCTID:722075004", "UMLS:C1833796"]}
{"category": ["biolink:Disease"], "description": "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.", "id": "MONDO:0008138", "name": "Syndromic orbital border hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Urrets-Zavalia syndrome"], "xref": ["GARD:0016858", "MEDGEN:318965", "MESH:C563490", "OMIM:165600", "Orphanet:98606", "SCTID:717337001", "UMLS:C1833795"]}
{"category": ["biolink:Disease"], "description": "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.", "id": "MONDO:0008139", "name": "Oslam syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OSLAM syndrome", "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome"], "xref": ["GARD:0004129", "MEDGEN:331588", "MESH:C537138", "OMIM:165660", "Orphanet:2760", "SCTID:733064004", "UMLS:C1833792"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008140", "name": "Ossified ear cartilages", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ossified ear cartilages"], "xref": ["MEDGEN:331587", "MESH:C563488", "OMIM:165670", "UMLS:C1833791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008141", "name": "Ossicular malformations, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ossicular malformations, familial"], "xref": ["MEDGEN:371652", "MESH:C537142", "OMIM:165680", "UMLS:C1833790"]}
{"category": ["biolink:Disease"], "description": "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.", "id": "MONDO:0008142", "name": "Thiemann disease, familial form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Osteochondrosis of phalangeal epiphyses", "aseptic necrosis of phalangeal epiphyses", "osteochondritis of phalangeal epiphyses"], "xref": ["GARD:0004131", "ICD9:716.84", "MEDGEN:82674", "MESH:C537144", "OMIM:165700", "Orphanet:3314", "SCTID:55166000", "UMLS:C0264081", "icd11.foundation:67016273"]}
{"category": ["biolink:Disease"], "description": "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.", "id": "MONDO:0008145", "name": "Ollier disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ollier disease", "Ollier type enchondromatosis", "Ollier's disease", "dyschondroplasia", "osteochondromatosis"], "xref": ["DOID:4624", "GARD:0007251", "ICD10CM:Q78.4", "MEDGEN:41775", "MedDRA:10014642", "NANDO:2200049", "NANDO:2201015", "NCIT:C3008", "NORD:1526", "OMIM:166000", "Orphanet:296", "SCTID:268274005", "UMLS:C0014084", "icd11.foundation:1648299787"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.", "id": "MONDO:0008146", "name": "Osteogenesis imperfecta type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Adair-Dighton syndrome", "COL1A1-related osteogenesis imperfecta", "OI type 1", "OI1", "Van der Hoeve syndrome", "mild osteogenesis imperfecta", "non-deforming osteogenesis imperfecta", "osteogenesis imperfecta type 1", "osteogenesis imperfecta type I"], "xref": ["DOID:0110334", "GARD:0008694", "MEDGEN:9799", "NCIT:C99003", "OMIM:166200", "Orphanet:216796", "SCTID:385482004", "UMLS:C0023931", "icd11.foundation:1897905410"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.", "id": "MONDO:0008147", "name": "Osteogenesis imperfecta type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OI type 2", "OI2", "Vrolik type of osteogenesis imperfecta", "lethal osteogenesis imperfecta", "osteogenesis imperfecta type 2", "osteogenesis imperfecta type II"], "xref": ["DOID:0110341", "GARD:0010142", "MEDGEN:75673", "MESH:C536042", "NCIT:C99001", "OMIM:166210", "Orphanet:216804", "SCTID:86470003", "UMLS:C0268358", "icd11.foundation:2024049157"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).", "id": "MONDO:0008148", "name": "Osteogenesis imperfecta type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OI type 4", "OI4", "osteogenesis imperfecta type IV"], "xref": ["DOID:0110340", "GARD:0008696", "MEDGEN:78665", "MESH:C536045", "NCIT:C98576", "OMIM:166220", "Orphanet:216820", "SCTID:205497004", "UMLS:C0268363", "icd11.foundation:829297901"]}
{"category": ["biolink:Disease"], "description": "An osteogenesis imperfecta found in a single South African family.", "id": "MONDO:0008149", "name": "Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0110335", "GARD:0015100", "MEDGEN:331579", "MESH:C563487", "OMIM:166230", "UMLS:C1833748"]}
{"category": ["biolink:Disease"], "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.", "id": "MONDO:0008150", "name": "Osteoglophonic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FGFR1-related osteoglophonic dysplasia", "OGD", "osteoglophonic dwarfism", "osteoglophonic dysplasia"], "xref": ["DOID:0111532", "GARD:0004142", "MEDGEN:96592", "MESH:C536050", "OMIM:166250", "Orphanet:2645", "SCTID:254144002", "UMLS:C0432283", "icd11.foundation:1427874962"]}
{"category": ["biolink:Disease"], "description": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.", "id": "MONDO:0008151", "name": "Gnathodiaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GDD", "gnathodiaphyseal dysplasia"], "xref": ["DOID:0111533", "GARD:0008698", "MEDGEN:331575", "MESH:C536039", "OMIM:166260", "Orphanet:53697", "SCTID:715568002", "UMLS:C1833736", "icd11.foundation:1984860886"]}
{"category": ["biolink:Disease"], "description": "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.", "id": "MONDO:0008152", "name": "Multicentric carpo-tarsal osteolysis with or without nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["idiopathic multicentric osteolysis with or without nephropathy", "multicentric carpo-tarsal osteolysis with or without nephropathy"], "xref": ["DOID:0111534", "GARD:0003818", "MEDGEN:436237", "MESH:C567171", "OMIM:166300", "Orphanet:2774", "SCTID:766992008", "UMLS:C2674705"]}
{"category": ["biolink:Disease"], "description": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.", "id": "MONDO:0008153", "name": "Progressive osseous heteroplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["POH", "familial ectopic ossification", "poh"], "xref": ["DOID:0111535", "GARD:0000109", "MEDGEN:137714", "MESH:C562735", "MedDRA:10048902", "NORD:1618", "OMIM:166350", "Orphanet:2762", "SCTID:719271000", "UMLS:C0334041", "icd11.foundation:1107209347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008154", "name": "Osteomas of mandible", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["osteomas of mandible"], "xref": ["GARD:0024604", "MEDGEN:318953", "MESH:C563485", "OMIM:166400", "UMLS:C1833733"]}
{"category": ["biolink:Disease"], "description": "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.", "id": "MONDO:0008155", "name": "Osteomesopyknosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["axial osteosclerosis", "osteomesopyknosis"], "xref": ["GARD:0000391", "MEDGEN:98482", "MESH:C537792", "OMIM:166450", "Orphanet:2777", "SCTID:254125009", "UMLS:C0432264", "icd11.foundation:455371627"]}
{"category": ["biolink:Disease"], "description": "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).", "id": "MONDO:0008156", "name": "Autosomal dominant osteopetrosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Albers-Schönberg osteopetrosis", "OPTA2", "autosomal dominant osteopetrosis type 2", "osteopetrosis autosomal dominant type 2", "osteopetrosis, autosomal dominant type 2"], "xref": ["DOID:0110938", "GARD:0000383", "MEDGEN:465707", "OMIM:166600", "Orphanet:53", "SCTID:725050005", "UMLS:C3179239"]}
{"category": ["biolink:Disease"], "description": "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.", "id": "MONDO:0008157", "name": "Buschke-ollendorff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Buschke-Ollendorff syndrome", "osteopoikilosis with or without melorheostosis"], "xref": ["DOID:0111536", "GARD:0027355", "MEDGEN:120545", "MESH:C537415", "OMIM:166700", "Orphanet:1306", "UMLS:C0265514", "icd11.foundation:1556522143"]}
{"category": ["biolink:Disease"], "description": "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).", "id": "MONDO:0008158", "name": "Dacryocystitis-osteopoikilosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Gunal-Seber-Basaran syndrome"], "xref": ["GARD:0000351", "MEDGEN:318939", "MESH:C536061", "OMIM:166705", "Orphanet:1562", "SCTID:721082002", "UMLS:C1833698"]}
{"category": ["biolink:Disease"], "description": "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.", "id": "MONDO:0008159", "name": "Postmenopausal osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0003854", "MEDGEN:10498", "MESH:D015663", "SCTID:102447009", "UMLS:C0029458", "icd11.foundation:123797893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008160", "name": "Osteosclerosis with ichthyosis and fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteosclerosis with ichthyosis and fractures"], "xref": ["MEDGEN:331568", "MESH:C563483", "OMIM:166740", "UMLS:C1833697"]}
{"category": ["biolink:Disease"], "description": "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.", "id": "MONDO:0008161", "name": "Otodental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["globodontia", "otodental dysplasia", "otodental dysplasia chromosome deletion syndrome", "otodental syndrome"], "xref": ["GARD:0004168", "MEDGEN:318937", "MESH:C563482", "OMIM:166750", "Orphanet:2791", "SCTID:707310009", "UMLS:C1833693"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.", "id": "MONDO:0008163", "name": "Otofaciocervical syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Fara Chlupackova syndrome", "Fara-Chlupackova syndrome", "OFC syndrome"], "xref": ["GARD:0004169", "MEDGEN:322257", "MESH:C537074", "MESH:C563481", "OMIMPS:166780", "Orphanet:2792", "UMLS:C1833691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008164", "name": "Otosclerosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC1", "otosclerosis 1"], "xref": ["DOID:0060920", "GARD:0024606", "MEDGEN:1639517", "OMIM:166800", "UMLS:C4551901"]}
{"category": ["biolink:Disease"], "description": "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.", "id": "MONDO:0008165", "name": "Southeast asian ovalocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Melanesian elliptocytosis", "Melanesian ovalocytosis", "SAO", "ovalocytosis, SA type", "sao", "stomatocytic elliptocytosis"], "xref": ["GARD:0016867", "ICD9:282.1", "MEDGEN:350649", "OMIM:166900", "Orphanet:98868", "SCTID:191169008", "UMLS:C1862322", "icd11.foundation:835618545"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008166", "name": "Ovalocytosis, hereditary hemolytic, with defective erythropoiesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovalocytosis, hereditary hemolytic, with defective erythropoiesis"], "xref": ["MEDGEN:322255", "MESH:C563479", "OMIM:166910", "UMLS:C1833689"]}
{"category": ["biolink:Disease"], "description": "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.", "id": "MONDO:0008167", "name": "Dermoid cyst of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["dermoid cyst (& [ovarian])", "dermoid cyst of ovary", "dermoid cyst of the ovary", "ovarian dermoid cyst", "ovary dermoid cyst"], "xref": ["DOID:5117", "GARD:0024607", "MEDGEN:68637", "MESH:C562731", "NCIT:C3856", "OMIM:166950", "UMLS:C0237020", "icd11.foundation:1067463359"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.", "id": "MONDO:0008168", "name": "Ovarian fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fibroma of ovary", "fibroma of the ovary", "ovarian fibroma", "ovarian fibroma (disease)"], "xref": ["GARD:0021375", "HP:0010618", "MEDGEN:57706", "MESH:C562391", "MedDRA:10064257", "NCIT:C3498", "OMIM:166970", "Orphanet:314473", "SCTID:254865006", "UMLS:C0149951", "icd11.foundation:871413134"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008169", "name": "Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension"], "xref": ["MEDGEN:322254", "MESH:C563478", "OMIM:166990", "UMLS:C1833688"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "id": "MONDO:0008170", "name": "Ovarian cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["cancer of ovary", "cancer of the ovary", "malignant neoplasm of ovary", "malignant neoplasm of the ovary", "malignant ovarian neoplasm", "malignant ovarian tumor", "malignant ovarian tumour", "malignant ovary neoplasm", "malignant tumor of ovary", "malignant tumor of the ovary", "malignant tumour of ovary", "malignant tumour of the ovary", "ovarian cancer", "ovarian cancer, somatic", "ovarian malignant tumor", "ovarian malignant tumour", "ovary cancer"], "xref": ["DOID:2394", "ICD10CM:C56", "ICD9:183.0", "MEDGEN:216027", "MESH:D010051", "NCIT:C7431", "OMIM:167000", "Orphanet:213500", "SCTID:363443007", "UMLS:C1140680", "icd11.foundation:685124533"]}
{"category": ["biolink:Disease"], "description": "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.", "id": "MONDO:0008171", "name": "Nephrolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calculus of kidney and ureter", "kidney stone", "renal calculi"], "xref": ["DOID:585", "EFO:0004253", "ICD9:592", "MEDGEN:98227", "MESH:D053040", "NCIT:C114667", "SCTID:266556005", "UMLS:C0392525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008172", "name": "Hypertrophic osteoarthropathy, primary, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PHOAD", "hypertrophic osteoarthropathy, primary, autosomal dominant"], "xref": ["GARD:0015101", "MEDGEN:382429", "OMIM:167100", "UMLS:C2674695"]}
{"category": ["biolink:Disease"], "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.", "id": "MONDO:0008173", "name": "Pachyonychia congenita 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT16 pachyonychia congenita", "pachyonychia congenita 1", "pachyonychia congenita caused by mutation in KRT16", "pachyonychia congenita type 1"], "xref": ["GARD:0015102", "MEDGEN:353335", "OMIM:167200", "SCTID:39427000", "UMLS:C1706595"]}
{"category": ["biolink:Disease"], "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.", "id": "MONDO:0008174", "name": "Pachyonychia congenita 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT17 pachyonychia congenita", "pachyonychia congenita 2", "pachyonychia congenita caused by mutation in KRT17", "pachyonychia congenita type 2"], "xref": ["GARD:0015103", "MEDGEN:314107", "OMIM:167210", "UMLS:C1721007"]}
{"category": ["biolink:Disease"], "description": "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.", "id": "MONDO:0008175", "name": "Pacman dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome", "pacman dysplasia"], "xref": ["GARD:0004189", "MEDGEN:331566", "MESH:C538095", "OMIM:167220", "Orphanet:1952", "SCTID:722127006", "UMLS:C1833676", "icd11.foundation:519938437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008176", "name": "Paget disease of bone 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Paget disease of bone 3", "Paget disease of bone type 3"], "xref": ["DOID:0081366", "GARD:0004191", "MEDGEN:895927", "OMIM:167250", "UMLS:C4085252"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.", "id": "MONDO:0008177", "name": "Extramammary paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Extramammary Paget's disease", "Paget disease Extramammary", "Paget's disease of skin", "Paget's disease of the skin", "Paget's skin disease", "extramammary Paget disease"], "xref": ["EFO:1000249", "GARD:0004192", "ICDO:8542/3", "MEDGEN:45280", "MESH:D010145", "MedDRA:10033366", "MedDRA:10068223", "NCIT:C3302", "OMIM:167300", "ONCOTREE:EMPD", "Orphanet:2800", "UMLS:C0030186", "icd11.foundation:1796624917"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.", "id": "MONDO:0008178", "name": "Inclusion body myopathy with paget disease of bone and frontotemporal dementia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1", "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1"], "xref": ["DOID:0111385", "GARD:0024608", "MEDGEN:1641069", "MESH:C563476", "NCIT:C122663", "OMIM:167320", "UMLS:C4551951"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.", "id": "MONDO:0008179", "name": "Paroxysmal extreme pain disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial rectal pain", "paroxysmal extreme pain disorder"], "xref": ["DOID:0111537", "GARD:0012854", "ICD9:349.89", "MEDGEN:331565", "MESH:C563475", "NCIT:C125385", "OMIM:167400", "Orphanet:46348", "SCTID:699190008", "UMLS:C1833661", "icd11.foundation:9604457"]}
{"category": ["biolink:Disease"], "description": "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.", "id": "MONDO:0008180", "name": "Congenital velopharyngeal incompetence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005470", "MEDGEN:52992", "MESH:D014681", "OMIM:167500", "Orphanet:2291", "UMLS:C0042454", "icd11.foundation:158386351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008181", "name": "Palmaris longus muscle, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["palmaris longus muscle, absence of"], "xref": ["MEDGEN:357025", "OMIM:167600", "UMLS:C1868661"]}
{"category": ["biolink:Disease"], "description": "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.", "id": "MONDO:0008182", "name": "Nasopalpebral lipoma-coloboma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nasopalpebral lipoma-coloboma syndrome"], "xref": ["GARD:0003927", "MEDGEN:358378", "MESH:C538338", "OMIM:167730", "Orphanet:2399", "SCTID:723411003", "UMLS:C1868660"]}
{"category": ["biolink:Disease"], "description": "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.", "id": "MONDO:0008183", "name": "Annular pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060850", "GARD:0000705", "ICD10CM:Q45.1", "MEDGEN:56211", "MESH:C536376", "MedDRA:10071757", "NCIT:C98813", "OMIM:167750", "Orphanet:675", "SCTID:40315008", "UMLS:C0149955", "icd11.foundation:1311285827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008184", "name": "Pancreas, dorsal, agenesis of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pancreas, dorsal, agenesis of"], "xref": ["GARD:0015104", "MEDGEN:357024", "MESH:C538109", "OMIM:167755", "UMLS:C1868659"]}
{"category": ["biolink:Disease"], "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.", "id": "MONDO:0008185", "name": "Hereditary chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["hereditary chronic pancreatitis", "hereditary pancreatitis"], "xref": ["GARD:0006632", "ICD9:577.8", "MEDGEN:116056", "MESH:C537262", "NANDO:1200921", "NANDO:2200942", "NCIT:C95436", "OMIM:167800", "Orphanet:676", "SCTID:68072000", "UMLS:C0238339", "icd11.foundation:1287702961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008186", "name": "Pancytopenia and occlusive vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pancytopenia and occlusive vascular disease"], "xref": ["MEDGEN:358375", "MESH:C566836", "OMIM:167850", "UMLS:C1868652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008187", "name": "Panic disorder 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PAND1", "panic disorder 1", "panic disorder syndrome 1", "panic disorder, susceptibility to"], "xref": ["MEDGEN:401493", "OMIM:167870", "UMLS:C1868649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008188", "name": "Papillomatosis, confluent and reticulated", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papillomatosis, confluent and reticulated"], "xref": ["MEDGEN:472991", "MESH:C566832", "OMIM:167900", "UMLS:C0263385"]}
{"category": ["biolink:Disease"], "description": "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.", "id": "MONDO:0008189", "name": "Papillomatosis, florid, of nipple", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["erosive adenomatosis of nipple", "erosive nipple adenomatosis", "papillomatosis, florid, of nipple"], "xref": ["MEDGEN:401492", "MESH:C537167", "NCIT:C4383", "OMIM:167950", "SCTID:237467005", "UMLS:C1868647"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).", "id": "MONDO:0008192", "name": "Pheochromocytoma/paraganglioma syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SDHD paraganglioma", "SDHD-related tumor predisposition", "paraganglioma caused by mutation in SDHD", "paragangliomas 1", "paragangliomas 1, with or without deafness", "paragangliomas type 1", "pheochromocytoma/paraganglioma syndrome 1"], "xref": ["DOID:0061216", "GARD:0007324", "MEDGEN:488134", "OMIM:168000", "UMLS:C3494181"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008193", "name": "Paralysis agitans, juvenile, of hunt", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paralysis agitans, juvenile, of Hunt"], "xref": ["GARD:0010359", "ICD9:333.0", "MEDGEN:66768", "MESH:C562469", "OMIM:168100", "SCTID:43647007", "UMLS:C0238344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008194", "name": "Paramolar tubercle of bolk", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paramolar tubercle of bolk"], "xref": ["MEDGEN:539640", "OMIM:168200", "SCTID:78305006", "UMLS:C0266029"]}
{"category": ["biolink:Disease"], "description": "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).", "id": "MONDO:0008195", "name": "Paramyotonia congenita of von eulenburg", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["paramyotonia congenita", "paramyotonia congenita of Von Eulenburg"], "xref": ["DOID:0111538", "GARD:0007325", "ICD9:359.29", "MEDGEN:113142", "NANDO:1200501", "NCIT:C122790", "OMIM:168300", "Orphanet:684", "SCTID:41574007", "UMLS:C0221055", "icd11.foundation:1740060527"]}
{"category": ["biolink:Disease"], "description": "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.", "id": "MONDO:0008196", "name": "Parastremmatic dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["parastremmatic dwarfism"], "xref": ["DOID:0111539", "GARD:0004222", "MEDGEN:358366", "MESH:C537172", "OMIM:168400", "Orphanet:2646", "SCTID:722210007", "UMLS:C1868616", "icd11.foundation:431936114"]}
{"category": ["biolink:Disease"], "description": "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.", "id": "MONDO:0008197", "name": "Parietal foramina 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MSX2 parietal foramina", "parietal foramina 1", "parietal foramina caused by mutation in MSX2"], "xref": ["GARD:0018051", "MEDGEN:401480", "MESH:C566827", "OMIM:168500", "UMLS:C1868599"]}
{"category": ["biolink:Disease"], "description": "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.", "id": "MONDO:0008198", "name": "Parietal foramina with cleidocranial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["parietal foramina with cleidocranial dysostosis", "parietal foramina with cleidocranial dysplasia"], "xref": ["GARD:0017207", "MEDGEN:401479", "MESH:C566825", "OMIM:168550", "Orphanet:251290", "UMLS:C1868597"]}
{"category": ["biolink:Disease"], "description": "A Parkinson disease that begins after around the age of 50.", "id": "MONDO:0008199", "name": "Late-onset parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LOPD", "PARK", "PD", "Parkinson disease, age of onset, modifier, Multifactorial", "Parkinson disease, late-onset", "Parkinson disease, late-onset, susceptibility to, Multifactorial", "Parkinson disease, susceptibility to, Multifactorial", "autosomal dominant late-onset Parkinson disease", "hereditary late onset Parkinson disease", "hereditary late-onset Parkinson disease", "late-onset Parkinson disease"], "xref": ["DOID:0060892", "GARD:0017684", "MEDGEN:463618", "OMIM:168600", "Orphanet:411602", "SCTID:716662004", "UMLS:C3160718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008200", "name": "Autosomal dominant parkinson disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal dominant Parkinson disease 1", "autosomal dominant Parkinson disease type 1"], "xref": ["DOID:0060367", "GARD:0018474", "MEDGEN:357008", "MESH:C566823", "OMIM:168601", "UMLS:C1868595"]}
{"category": ["biolink:Disease"], "description": "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.", "id": "MONDO:0008201", "name": "Perry syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome", "parkinsonism with alveolar hypoventilation and mental depression"], "xref": ["DOID:0060486", "GARD:0010453", "ICD9:348.89", "MEDGEN:357007", "MESH:C566822", "NANDO:1200547", "OMIM:168605", "Orphanet:178509", "SCTID:699184009", "UMLS:C1868594", "icd11.foundation:1441227658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008202", "name": "Parotidomegaly, hereditary bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Parotidomegaly, hereditary bilateral"], "xref": ["MEDGEN:401477", "MESH:C566821", "OMIM:168800", "UMLS:C1868590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008203", "name": "Passovoy factor defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Passovoy factor defect"], "xref": ["MEDGEN:461057", "OMIM:168830", "UMLS:C3149707"]}
{"category": ["biolink:Disease"], "description": "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.", "id": "MONDO:0008205", "name": "Patella aplasia/hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTLAH", "patella aplasia or hypoplasia"], "xref": ["GARD:0008709", "MEDGEN:358246", "MESH:C535568", "OMIM:168860", "Orphanet:86789", "UMLS:C1868577", "icd11.foundation:88577362"]}
{"category": ["biolink:Disease"], "description": "A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.", "id": "MONDO:0008206", "name": "Benign paroxysmal tonic upgaze of childhood with ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ouvrier-Billson syndrome", "neuroocular syndrome 2, paroxysmal type"], "xref": ["GARD:0004176", "MEDGEN:401473", "MESH:C566817", "OMIM:168885", "Orphanet:1179", "SCTID:763127004", "UMLS:C1868576"]}
{"category": ["biolink:Disease"], "description": "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.", "id": "MONDO:0008207", "name": "Chondromalacia patellae", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chondromalacia of patella", "chondromalacia patellae", "patella chondromalacia"], "xref": ["DOID:13357", "GARD:0024609", "ICD10CM:M22.4", "ICD9:717.7", "MEDGEN:939", "MESH:D046789", "OMIM:168900", "Orphanet:1428", "SCTID:36071006", "UMLS:C0008475", "icd11.foundation:1589625540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008208", "name": "Patella, familial recurrent dislocation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["patella, familial recurrent dislocation of"], "xref": ["MEDGEN:358245", "MESH:C566816", "OMIM:169000", "UMLS:C1868575"]}
{"category": ["biolink:Disease"], "description": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.", "id": "MONDO:0008209", "name": "Char syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Char syndrome", "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"], "xref": ["DOID:0060563", "GARD:0001237", "ICD9:759.89", "MEDGEN:358356", "MESH:C566815", "OMIM:169100", "Orphanet:46627", "SCTID:703534001", "UMLS:C1868570"]}
{"category": ["biolink:Disease"], "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.", "id": "MONDO:0008210", "name": "Patterned macular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDPT1", "PRPH2 patterned macular dystrophy", "macular dystrophy, butterfly-shaped pigmentary", "macular dystrophy, patterned, type 1", "patterned macular dystrophy caused by mutation in PRPH2", "patterned macular dystrophy type 1"], "xref": ["DOID:0060866", "GARD:0018237", "MEDGEN:1646806", "OMIM:169150", "UMLS:C4551999"]}
{"category": ["biolink:Disease"], "description": "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.", "id": "MONDO:0008211", "name": "Pseudoleprechaunism syndrome, patterson type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Patterson syndrome"], "xref": ["GARD:0004259", "MEDGEN:358350", "MESH:C536310", "OMIM:169170", "Orphanet:2976", "UMLS:C1868546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008212", "name": "Pechet factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pechet factor deficiency"], "xref": ["MEDGEN:358349", "MESH:C566814", "OMIM:169200", "UMLS:C1868545"]}
{"category": ["biolink:Disease"], "description": "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.", "id": "MONDO:0008213", "name": "Pectus excavatum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pectus excavatum", "pectus excavatum (disease)"], "xref": ["HP:0000767", "ICD10CM:Q67.6", "ICD9:754.81", "MEDGEN:781174", "MESH:D005660", "OMIM:169300", "SCTID:391987005", "UMLS:C2051831", "icd11.foundation:9248522"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.", "id": "MONDO:0008214", "name": "Pelger-huet anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pelger-Huet anomaly"], "xref": ["DOID:9631", "EFO:1001093", "GARD:0009148", "MEDGEN:10617", "MESH:D010381", "MedDRA:10029377", "NCIT:C85002", "OMIM:169400", "SCTID:85559002", "UMLS:C0030779", "icd11.foundation:1210390183"]}
{"category": ["biolink:Disease"], "description": "A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.", "id": "MONDO:0008215", "name": "Adult-onset autosomal dominant demyelinating leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADLD", "adult-onset autosomal dominant demyelinating leukodystrophy", "adult-onset autosomal dominant leukodystrophy", "leukodystrophy, adult-onset, autosomal dominant"], "xref": ["DECIPHER:59", "DOID:0051015", "DOID:0060785", "GARD:0010587", "MEDGEN:356995", "MESH:C566813", "OMIMPS:169500", "Orphanet:99027", "SCTID:448054001", "UMLS:C1868512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008216", "name": "Pelvic lipomatosis with crossed renal ectopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pelvic lipomatosis with crossed renal ectopia"], "xref": ["MEDGEN:356994", "MESH:C566812", "OMIM:169545", "UMLS:C1868511"]}
{"category": ["biolink:Disease"], "description": "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.", "id": "MONDO:0008217", "name": "Pelvis-shoulder dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kosenow syndrome", "Scapuloiliac dysostosis", "pelvis-shoulder dysplasia"], "xref": ["GARD:0016611", "MEDGEN:356991", "MESH:C566811", "OMIM:169550", "Orphanet:2839", "SCTID:719298001", "UMLS:C1868508"]}
{"category": ["biolink:Disease"], "description": "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).", "id": "MONDO:0008218", "name": "Hailey-hailey disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hailey-Hailey disease", "benign chronic familial pemphigus of Hailey-Hailey", "benign chronic pemphigus", "pemphigus, benign familial"], "xref": ["DOID:0050429", "GARD:0006559", "MEDGEN:43100", "MESH:D016506", "NANDO:1200631", "NCIT:C82865", "NORD:1211", "OMIM:169600", "Orphanet:2841", "SCTID:79468000", "UMLS:C0085106", "icd11.foundation:818400628"]}
{"category": ["biolink:Disease"], "description": "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).", "id": "MONDO:0008219", "name": "Pemphigus vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060851", "EFO:0004719", "GARD:0007355", "ICD10CM:L10.0", "MEDGEN:10621", "MESH:C536645", "MedDRA:10052802", "NANDO:1200229", "NCIT:C34910", "OMIM:169610", "Orphanet:704", "SCTID:49420001", "UMLS:C0030809", "icd11.foundation:278358681"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.", "id": "MONDO:0008221", "name": "Prolidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperimidodipeptiduria", "prolidase deficiency"], "xref": ["DOID:0111540", "GARD:0007473", "MEDGEN:120647", "MESH:D056732", "NANDO:2200472", "NCIT:C85029", "OMIM:170100", "Orphanet:742", "SCTID:410055005", "UMLS:C0268532", "icd11.foundation:1416203271"]}
{"category": ["biolink:Disease"], "description": "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.", "id": "MONDO:0008222", "name": "Andersen-tawil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Andersen cardiodysrhythmic periodic paralysis", "Andersen syndrome", "Andersen-Tawil syndrome", "LQT7", "long QT syndrome 7", "long QT syndrome type 7"], "xref": ["DOID:0050434", "GARD:0009453", "ICD9:759.89", "MEDGEN:327586", "MESH:D050030", "NANDO:1200827", "NCIT:C84559", "NORD:1883", "OMIM:170390", "Orphanet:37553", "SCTID:422348008", "UMLS:C1563715"]}
{"category": ["biolink:Disease"], "description": "Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.", "id": "MONDO:0008223", "name": "Hypokalemic periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HKPP", "HOKPP", "HypoPP", "Westphall disease", "familial periodic paralysis (& [hypokalaemic])", "hypokalemic periodic paralysis"], "xref": ["DOID:14452", "GARD:0006729", "MEDGEN:116058", "MESH:D020514", "NANDO:1200503", "NCIT:C84775", "Orphanet:681", "SCTID:82732003", "UMLS:C0238358", "icd11.foundation:1494773635"]}
{"category": ["biolink:Disease"], "description": "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.", "id": "MONDO:0008224", "name": "Hyperkalemic periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gamstorp disease", "Gamstorp episodic adynamy", "HYPP", "adynamia episodica hereditaria", "adynamia episodica hereditaria with or without myotonia", "familial hyperPP", "familial hyperkalemic periodic paralysis", "familial hyperkalemic periodic paralysis (disorder) [ambiguous]", "hyperKPP", "hyperPP", "hyperkalemic PP", "hyperkalemic periodic paralysis", "hyperkalemic periodic paralysis, type 2", "normokalemic periodic paralysis, potassium-sensitive", "primary hyperPP", "primary hyperkalemic periodic paralysis"], "xref": ["DOID:14451", "GARD:0000195", "MEDGEN:68665", "MESH:D020513", "NANDO:1200504", "NCIT:C123429", "OMIM:170500", "Orphanet:682", "SCTID:304737009", "UMLS:C0238357", "icd11.foundation:1308452752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008225", "name": "Normokalemic periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["NormoKPP", "normokalemic PP", "normokalemic periodic paralysis"], "xref": ["GARD:0004009", "MEDGEN:78678", "NCIT:C122791", "OMIM:170600", "Orphanet:680", "SCTID:40381009", "UMLS:C0268445"]}
{"category": ["biolink:Disease"], "description": "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.", "id": "MONDO:0008226", "name": "Periodontitis, aggressive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["periodontitis 1, juvenile", "periodontitis, aggressive, type 1"], "xref": ["DOID:0061237", "DOID:1474", "EFO:0006342", "GARD:0024610", "ICD9:523.5", "MESH:D010520", "OMIM:170650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008227", "name": "Peripheral dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["peripheral dysostosis"], "xref": ["GARD:0002015", "MEDGEN:1648357", "OMIM:170700", "Orphanet:1795", "UMLS:C4721502"]}
{"category": ["biolink:Disease"], "description": "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.", "id": "MONDO:0008228", "name": "Pernicious anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Addison anaemia", "Addison anemia", "Addison's anemia", "Addison-Biermer anaemia", "Addison-Biermer anemia", "Biermer anaemia", "Biermer anemia", "Biermer disease", "acquired pernicious anaemia", "acquired pernicious anemia", "anaemia pernicious", "anemia pernicious", "intrinsic factor deficiency", "juvenile onset pernicious anaemia", "juvenile onset pernicious anemia", "pernicious anemia"], "xref": ["DOID:13381", "EFO:0005576", "GARD:0027356", "ICD10CM:D51.0", "ICD9:281.0", "MEDGEN:1531", "MESH:D000752", "NCIT:C2871", "OMIM:170900", "Orphanet:120", "SCTID:84027009", "UMLS:C0002892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008229", "name": "Peroneal nerve, accessory deep", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peroneal nerve, accessory deep"], "xref": ["MEDGEN:358317", "MESH:C536001", "OMIM:170980", "UMLS:C1868426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008230", "name": "Peroxidase, salivary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peroxidase, salivary"], "xref": ["MEDGEN:401440", "OMIM:170990", "UMLS:C1868425"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.", "id": "MONDO:0008231", "name": "Peyronie disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Peyronie disease", "Peyronie's disease", "Peyronie's fibromatosis", "penile fibromatosis", "penile induration", "penis fibromatosis"], "xref": ["DOID:8616", "ICD10CM:N48.6", "ICD9:607.85", "MEDGEN:10629", "NCIT:C3316", "OMIM:171000", "Orphanet:2870", "UMLS:C0030848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008232", "name": "Phagocytosis, plasma-related defect 1n", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phagocytosis, plasma-related defect type 1N"], "xref": ["MEDGEN:356965", "MESH:C566808", "OMIM:171100", "UMLS:C1868402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008233", "name": "Pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["phaeochromocytoma", "pheochromocytoma"], "xref": ["DOID:0050771", "GARD:0015105", "MEDGEN:18419", "MESH:D010673", "OMIM:171300", "ONCOTREE:PHC", "UMLS:C0031511", "icd11.foundation:13029801"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.", "id": "MONDO:0008234", "name": "Multiple endocrine neoplasia type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MEA type 2a", "MEA type II", "MEN2A", "RET-related multiple endocrine neoplasia type 2A", "Sipple syndrome", "men 2A", "men type 2a", "men type II", "multiple endocrine adenomatosis type 2A", "multiple endocrine adenomatosis type 2a", "multiple endocrine adenomatosis type II", "multiple endocrine adenomatosis, type II", "multiple endocrine neoplasia IIA", "multiple endocrine neoplasia type 2A", "multiple endocrine neoplasia type II", "multiple endocrine neoplasia, type II", "ptc syndrome"], "xref": ["DOID:0050430", "GARD:0004881", "MEDGEN:9958", "MESH:D018813", "NANDO:2200406", "NANDO:2201052", "NCIT:C3226", "OMIM:171400", "Orphanet:247698", "SCTID:721188000", "UMLS:C0025268", "icd11.foundation:1689268035"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008235", "name": "Pheochromocytoma-islet cell tumor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pheochromocytoma--islet cell tumor syndrome", "pheochromocytoma--islet cell tumour syndrome", "pheochromocytoma-islet cell tumor syndrome"], "xref": ["MEDGEN:401431", "MESH:C566807", "OMIM:171420", "UMLS:C1868392"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008236", "name": "Phlebectasia of lips", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phlebectasia of lips"], "xref": ["MEDGEN:356962", "MESH:C566806", "OMIM:171450", "UMLS:C1868391"]}
{"category": ["biolink:Disease"], "description": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.", "id": "MONDO:0008237", "name": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Stoll-LC)vy-Francfort syndrome", "Stoll-Lévy-Francfort syndrome"], "xref": ["GARD:0004323", "MEDGEN:356961", "MESH:C537498", "OMIM:171480", "Orphanet:2878", "UMLS:C1868390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008238", "name": "Phosphatase, acid, of tissues", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phosphatase, acid, of tissues"], "xref": ["MEDGEN:361808", "OMIM:171660", "UMLS:C1876163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008239", "name": "Phosphoglucomutase 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phosphoglucomutase 4", "phosphoglucomutase type 4"], "xref": ["MEDGEN:358301", "OMIM:172110", "UMLS:C1868356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008240", "name": "6-phosphogluconolactonase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["6-phosphogluconolactonase deficiency"], "xref": ["MEDGEN:358188", "MESH:C566803", "OMIM:172150", "UMLS:C1868355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008241", "name": "Phosphoglycoprotein 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phosphoglycoprotein 1", "phosphoglycoprotein type 1"], "xref": ["MEDGEN:401424", "OMIM:172290", "UMLS:C1868352"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008242", "name": "Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction"], "xref": ["GARD:0009267", "ICD9:583.9", "MEDGEN:315660", "MESH:C538113", "OMIM:172500", "SCTID:237612000", "UMLS:C1809475"]}
{"category": ["biolink:Disease"], "description": "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.", "id": "MONDO:0008243", "name": "Pick disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["PICK disease of brain", "Pick disease", "lobar atrophy of brain"], "xref": ["DOID:11870", "EFO:0003096", "GARD:0024611", "ICD10CM:G31.01", "ICD9:331.11", "MEDGEN:116020", "MESH:D020774", "NCIT:C85008", "OMIM:172700", "SCTID:13092008", "UMLS:C0236642"]}
{"category": ["biolink:Disease"], "description": "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.", "id": "MONDO:0008244", "name": "Piebaldism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["piebald trait", "piebaldism"], "xref": ["DOID:3263", "GARD:0004344", "ICD9:270.2", "MEDGEN:36361", "MESH:D016116", "NCIT:C85009", "OMIM:172800", "Orphanet:2884", "SCTID:6479008", "UMLS:C0080024", "icd11.foundation:2089421143"]}
{"category": ["biolink:Disease"], "description": "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.", "id": "MONDO:0008245", "name": "Piebald trait-neurologic defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["telfer-Sugar-Jaeger syndrome"], "xref": ["GARD:0005133", "MEDGEN:358177", "MESH:C536955", "OMIM:172850", "Orphanet:2885", "UMLS:C1868311"]}
{"category": ["biolink:Disease"], "description": "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.", "id": "MONDO:0008246", "name": "Pigmented paravenous retinochoroidal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPRCA"], "xref": ["DOID:0111541", "GARD:0017208", "MEDGEN:401413", "MESH:C566801", "OMIM:172870", "Orphanet:251295", "SCTID:723450004", "UMLS:C1868310", "icd11.foundation:1278139412"]}
{"category": ["biolink:Disease"], "description": "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0008247", "name": "Robin sequence-oligodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pierre Robin sequence-oligodactyly syndrome"], "xref": ["GARD:0004729", "MEDGEN:358176", "MESH:C535688", "OMIM:172880", "Orphanet:3104", "UMLS:C1868309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008248", "name": "Pigmented purpuric eruption", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["pigmented purpuric eruption"], "xref": ["GARD:0007609", "MEDGEN:96058", "MESH:C537186", "OMIM:172900", "SCTID:20343006", "UMLS:C0406515"]}
{"category": ["biolink:Disease"], "description": "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.", "id": "MONDO:0008249", "name": "Pilonidal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pilonidal sinus", "pilonidal sinus (disease)"], "xref": ["HP:0010769", "MEDGEN:19314", "MESH:D010864", "OMIM:173000", "SCTID:47639008", "UMLS:C0031925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008250", "name": "Isolated growth hormone deficiency type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["congenital IGHD type II", "congenital isolated GH deficiency type II", "congenital isolated growth hormone deficiency type II", "growth hormone deficiency, isolated, type II"], "xref": ["DOID:0060872", "GARD:0001696", "MEDGEN:124405", "MESH:C562704", "OMIM:173100", "Orphanet:231679", "SCTID:237687003", "UMLS:C0271567"]}
{"category": ["biolink:Disease"], "description": "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.", "id": "MONDO:0008251", "name": "Familial pityriasis rubra pilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Devergie's disease", "PRP", "hereditary pityriasis rubra pilaris", "pityriasis rubra pilaris--familial type"], "xref": ["GARD:0024612", "MEDGEN:443914", "MESH:C531784", "MedDRA:10035116", "OMIM:173200", "Orphanet:2897", "UMLS:C2930842"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008252", "name": "Platelet adenylate cyclase activity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet adenylate cyclase activity"], "xref": ["MEDGEN:358164", "OMIM:173395", "UMLS:C1868264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008253", "name": "Platelet aggregation, spontaneous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet aggregation, spontaneous"], "xref": ["MEDGEN:401406", "MESH:C566800", "OMIM:173400", "UMLS:C1868263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008254", "name": "Platelet disorder, undefined", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet disorder, undefined"], "xref": ["MEDGEN:401405", "MESH:C566799", "OMIM:173420", "UMLS:C1868258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008255", "name": "Platelet factor 3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet factor 3 deficiency"], "xref": ["MEDGEN:356931", "MESH:C566798", "OMIM:173450", "UMLS:C1868256"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008256", "name": "Platelet membrane fluidity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet membrane fluidity"], "xref": ["MEDGEN:401393", "OMIM:173560", "UMLS:C1868201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008257", "name": "Platelet responsiveness to adrenaline, depressed", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet responsiveness to adrenaline, depressed"], "xref": ["MEDGEN:358151", "OMIM:173580", "UMLS:C1868200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008258", "name": "Platelet signal processing defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet signal processing defect"], "xref": ["MEDGEN:357448", "MESH:C566796", "OMIM:173590", "UMLS:C1868199"]}
{"category": ["biolink:Disease"], "description": "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.", "id": "MONDO:0008259", "name": "Familial spontaneous pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080218", "GARD:0004997", "MEDGEN:357445", "MESH:C566795", "OMIM:173600", "Orphanet:2903", "SCTID:715219001", "UMLS:C1868193", "icd11.foundation:319022944"]}
{"category": ["biolink:Disease"], "description": "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.", "id": "MONDO:0008260", "name": "Kindler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KS", "Kindler syndrome", "poikiloderma of Kindler"], "xref": ["DOID:0060472", "GARD:0004391", "MEDGEN:96060", "MESH:C536321", "NANDO:1200239", "OMIM:173650", "Orphanet:2908", "SCTID:238836000", "UMLS:C0406557", "icd11.foundation:726317303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008261", "name": "Hereditary sclerosing poikiloderma, weary type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017136", "MEDGEN:91006", "MESH:C562824", "OMIM:173700", "Orphanet:221039", "UMLS:C0343094", "icd11.foundation:1538273632"]}
{"category": ["biolink:Disease"], "description": "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.", "id": "MONDO:0008262", "name": "Poland syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Poland anomaly", "Poland sequence", "Poland syndrome"], "xref": ["DOID:12961", "GARD:0007412", "ICD9:756.89", "MEDGEN:10822", "MESH:D011045", "MedDRA:10036007", "NCIT:C85017", "NORD:1587", "OMIM:173800", "Orphanet:2911", "SCTID:38371006", "UMLS:C0032357", "icd11.foundation:1364451323"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.", "id": "MONDO:0008263", "name": "Polycystic kidney disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["APKD1", "PKD1", "PKD1 autosomal dominant polycystic kidney disease", "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "polycystic kidney disease 1", "polycystic kidney disease type 1"], "xref": ["DOID:0110858", "GARD:0018597", "MEDGEN:461191", "MESH:C536326", "OMIM:173900", "SCTID:253878003", "UMLS:C3149841"]}
{"category": ["biolink:Disease"], "description": "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).", "id": "MONDO:0008264", "name": "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADTKD", "autosomal dominant interstitial kidney disease", "autosomal dominant medullary cystic kidney disease", "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"], "xref": ["GARD:0010801", "MEDGEN:1377523", "MESH:C536137", "Orphanet:34149", "SCTID:444699000", "UMLS:C4511620", "icd11.foundation:216863438"]}
{"category": ["biolink:Disease"], "description": "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.", "id": "MONDO:0008265", "name": "Polycystic liver disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["PCLD1", "nonsyndromic congenital polycystic liver disease", "nonsyndromic polycystic liver disease (disease)", "polycystic liver disease 1", "polycystic liver disease 1 with or without kidney cysts"], "xref": ["DOID:0060980", "GARD:0024613", "MEDGEN:165781", "MedDRA:10010427", "MedDRA:10048834", "OMIM:174050", "SCTID:716196007", "UMLS:C0887850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008266", "name": "Polydactyly, postaxial, type a1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A1", "polydactyly, postaxial, types A1 and B"], "xref": ["GARD:0004414", "MEDGEN:924305", "OMIM:174200", "UMLS:C4282400"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).", "id": "MONDO:0008267", "name": "Orofaciodigital syndrome v", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFD5", "Thurston syndrome", "oral-facial-digital syndrome type 5", "orofaciodigital syndrome V", "orofaciodigital syndrome type 5", "orofaciodigital syndrome type V", "orofaciodigital syndrome, Thurston type", "polydactyly postaxial with median cleft of upper lip"], "xref": ["DOID:0060375", "GARD:0004120", "MEDGEN:358131", "MESH:C557819", "OMIM:174300", "Orphanet:2919", "SCTID:722105002", "UMLS:C1868118"]}
{"category": ["biolink:Disease"], "description": "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0008268", "name": "Polydactyly-myopia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Czeizel-Brooser syndrome", "polydactyly-myopia syndrome"], "xref": ["GARD:0004413", "ICD9:625.4", "MEDGEN:357424", "MESH:C536331", "OMIM:174310", "Orphanet:2917", "SCTID:82639001", "UMLS:C1868117"]}
{"category": ["biolink:Disease"], "description": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.", "id": "MONDO:0008269", "name": "Polydactyly of a biphalangeal thumb", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPD1", "polydactyly, preaxial type 1", "preaxial polydactyly type 1"], "xref": ["DOID:0060987", "GARD:0004417", "MEDGEN:237235", "MESH:C536332", "OMIM:174400", "Orphanet:93339", "SCTID:445216006", "UMLS:C1395852"]}
{"category": ["biolink:Disease"], "description": "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.", "id": "MONDO:0008270", "name": "Polydactyly of a triphalangeal thumb", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPD2", "polydactyly, preaxial type 2", "polydactyly, preaxial type II", "preaxial polydactyly type 2", "triphalangeal thumb, type i"], "xref": ["DOID:0060986", "GARD:0005289", "MEDGEN:357423", "OMIM:174500", "Orphanet:93336", "SCTID:715710001", "UMLS:C1868114", "icd11.foundation:728781925"]}
{"category": ["biolink:Disease"], "description": "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.", "id": "MONDO:0008271", "name": "Polydactyly of an index finger", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPD3", "polydactyly, preaxial type 3", "preaxial polydactyly type 3"], "xref": ["GARD:0002256", "MEDGEN:357422", "MESH:C566784", "OMIM:174600", "Orphanet:93337", "SCTID:723446006", "UMLS:C1868113", "icd11.foundation:982050714"]}
{"category": ["biolink:Disease"], "description": "Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly.", "id": "MONDO:0008272", "name": "Polysyndactyly 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPD4", "polydactyly, preaxial type 4", "polydactyly, preaxial, type IV", "preaxial polydactyly type 4"], "xref": ["DOID:0060985", "GARD:0009903", "ICD9:755.10", "MEDGEN:357420", "MedDRA:10063143", "OMIM:174700", "Orphanet:93338", "UMLS:C1868111", "icd11.foundation:973656080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008273", "name": "Actinic prurigo", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hutchinson summer prurigo", "actinic prurigo", "familial polymorphous light eruption of American Indians", "hereditary polymorphous light eruption of American Indians", "hydroa aestivale"], "xref": ["GARD:0017510", "MEDGEN:98348", "MESH:C566780", "OMIM:174770", "Orphanet:330061", "SCTID:201015007", "UMLS:C0406217", "icd11.foundation:1528164728"]}
{"category": ["biolink:Disease"], "description": "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.", "id": "MONDO:0008274", "name": "Polyostotic fibrous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PFD", "polyostotic fibrous dysplasia of bone"], "xref": ["GARD:0004213", "ICD10CM:Q78.1", "ICD9:756.54", "MEDGEN:5180", "MESH:D005359", "MedDRA:10036120", "NCIT:C34610", "Orphanet:93276", "SCTID:36517007", "UMLS:C0016065", "icd11.foundation:771587091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008275", "name": "Familial expansile osteolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McCabe disease", "familial expansile osteolysis", "hereditary expansile polyostotic osteolytic dysplasia"], "xref": ["DOID:0111542", "GARD:0009168", "ICD9:756.9", "MEDGEN:96593", "MESH:C536335", "OMIM:174810", "Orphanet:85195", "SCTID:254153009", "UMLS:C0432292", "icd11.foundation:1161028858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008276", "name": "Generalized juvenile polyposis/juvenile polyposis coli", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["generalized juvenile polyposis/juvenile polyposis coli"], "xref": ["DOID:0050787", "GARD:0017508", "MEDGEN:356898", "Orphanet:329971", "UMLS:C1868081"]}
{"category": ["biolink:Disease"], "description": "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).", "id": "MONDO:0008277", "name": "Stomach polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastric polyp", "gastric polyposa", "polyps of stomach", "polyps of the stomach"], "xref": ["MEDGEN:68629", "MESH:C562464", "NCIT:C3954", "SCTID:87252009", "UMLS:C0236048", "icd11.foundation:731629989"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias.", "id": "MONDO:0008278", "name": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome", "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"], "xref": ["DOID:0111543", "GARD:0024614", "MEDGEN:331400", "MESH:C563412", "OMIM:175050", "UMLS:C1832942"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.", "id": "MONDO:0008280", "name": "Peutz-jeghers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Jeghers-Peutz syndrome", "PJS", "Peutz Jeghers Syndrome", "Peutz's syndrome", "Peutz-Jeghers syndrome", "STK11-related Peutz-Jeghers syndrome", "hamartomatous intestinal polyposis", "polyps and spots syndrome"], "xref": ["DOID:3852", "GARD:0007378", "ICD9:759.6", "MEDGEN:18404", "MESH:D010580", "MedDRA:10034764", "NANDO:2200917", "NCIT:C3324", "NORD:1570", "OMIM:175200", "Orphanet:2869", "SCTID:54411001", "UMLS:C0031269", "icd11.foundation:969253189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008281", "name": "Polyposis, intestinal, scattered and discrete", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyposis, intestinal, scattered and discrete"], "xref": ["MEDGEN:358114", "OMIM:175400", "UMLS:C1868006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008282", "name": "Polyposis, intestinal, with multiple exostoses", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyposis, intestinal, with multiple exostoses"], "xref": ["MEDGEN:401357", "MESH:C566776", "OMIM:175450", "UMLS:C1868005"]}
{"category": ["biolink:Disease"], "description": "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.", "id": "MONDO:0008283", "name": "Cronkhite-canada syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Cronkhite-Canada syndrome", "gastric Cronkhite Canada polyposis", "gastrointestinal polyposis-ectodermal changes syndrome", "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome"], "xref": ["DOID:6225", "GARD:0004427", "MEDGEN:129128", "MESH:D044483", "MedDRA:10062907", "NANDO:1200901", "NCIT:C7035", "NORD:1017", "OMIM:175500", "Orphanet:2930", "SCTID:76304001", "UMLS:C0282207", "icd11.foundation:79007466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008285", "name": "Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial", "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"], "xref": ["GARD:0015106", "MEDGEN:1677803", "MESH:C566774", "OMIM:175510", "UMLS:C5193005"]}
{"category": ["biolink:Disease"], "description": "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.", "id": "MONDO:0008286", "name": "Crossed polysyndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["crossed polydactyly"], "xref": ["GARD:0001617", "MEDGEN:358112", "MESH:C566773", "OMIM:175690", "Orphanet:2935", "UMLS:C1867999", "icd11.foundation:1884305247"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease caused by a variation in the GLI3 gene, characterized by hypertelorism, macrocephaly accompanied by frontal bossing, and polysyndactyly. The polydactyly is most frequently preaxial in the feet and postaxial in the hands, with variable cutaneous syndactyly. The limb findings are quite variable. Less common features are central nervous system abnormalities, hernias, and neurological disability.", "id": "MONDO:0008287", "name": "Greig cephalopolysyndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GCPS", "GLI3-related Greig cephalopolysyndactyly spectrum", "Greig cephalopolysyndactyly syndrome", "Greig cephalosyndactyly syndrome", "Greig's syndrome", "polysyndactyly with peculiar skull shape"], "xref": ["DOID:14761", "GARD:0006550", "MEDGEN:120531", "MESH:C537300", "MedDRA:10053878", "NCIT:C35255", "NORD:1206", "OMIM:175700", "Orphanet:380", "SCTID:32985001", "UMLS:C0265306", "icd11.foundation:606500237"]}
{"category": ["biolink:Disease"], "description": "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.", "id": "MONDO:0008288", "name": "Popliteal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["popliteal cyst"], "xref": ["ICD9:727.51", "MEDGEN:10853", "MESH:D011151", "OMIM:175750", "SCTID:82675004", "UMLS:C0032650"]}
{"category": ["biolink:Disease"], "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.", "id": "MONDO:0008289", "name": "Brain small vessel disease 1 with or without ocular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADT1P", "BSVD", "BSVD1", "COL4A1 porencephaly", "COL4A1-related brain small vessel disease with haemorrhage", "T1P", "brain small vessel disease with axenfeld-rieger anomaly", "brain small vessel disease with haemorrhage", "brain small vessel disease with hemorrhage", "brain small vessel disease with or without ocular anomalies", "hemiplegia, infantile, with porencephaly", "leukoencephalopathy with axenfeld-rieger anomaly", "porencephaly 1", "porencephaly caused by mutation in COL4A1", "porencephaly type 1", "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant"], "xref": ["DOID:0090125", "GARD:0015107", "MEDGEN:1663316", "MESH:C531642", "MESH:C564372", "OMIM:175780", "OMIM:607595", "Orphanet:36383", "UMLS:C4755307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008290", "name": "Porokeratosis 1, mibelli type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POROK1"], "xref": ["GARD:0015108", "OMIM:175800"]}
{"category": ["biolink:Disease"], "description": "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.", "id": "MONDO:0008291", "name": "Porokeratosis plantaris palmaris et disseminata", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["palmar, plantar and disseminated porokeratosis", "porokeratosis 2, palmar, plantar, and disseminated", "porokeratosis plantaris palmaris et disseminata"], "xref": ["GARD:0016542", "MEDGEN:56517", "OMIM:175850", "Orphanet:737", "SCTID:718218005", "UMLS:C0162838"]}
{"category": ["biolink:Disease"], "description": "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.", "id": "MONDO:0008292", "name": "Punctate palmoplantar keratoderma type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPKP2", "PPPP", "punctate palmoplantar hyperkeratosis type 2"], "xref": ["DOID:0080213", "GARD:0004439", "MEDGEN:356886", "OMIM:175860", "Orphanet:79502", "SCTID:765096001", "UMLS:C1867982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008293", "name": "Porokeratosis 3, disseminated superficial actinic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["porokeratosis 3, disseminated superficial actinic type"], "xref": ["GARD:0009505", "MEDGEN:401352", "MESH:C536339", "OMIM:175900", "UMLS:C1867981"]}
{"category": ["biolink:Disease"], "description": "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.", "id": "MONDO:0008294", "name": "Acute intermittent porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acute intermittent porphyria"], "xref": ["DOID:3890", "GARD:0005732", "MEDGEN:56452", "MESH:D017118", "NANDO:1200812", "NANDO:2201263", "NCIT:C84536", "NORD:729", "OMIM:176000", "Orphanet:79276", "SCTID:234422006", "UMLS:C0162565", "icd11.foundation:1565229118"]}
{"category": ["biolink:Disease"], "description": "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.", "id": "MONDO:0008295", "name": "Sporadic porphyria cutanea tarda", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["acquired porphyria cutanea tarda", "porphyria cutanea tarda type I"], "xref": ["GARD:0017749", "MEDGEN:357391", "MESH:C566768", "OMIM:176090", "Orphanet:443057", "SCTID:402479002", "UMLS:C1867968", "icd11.foundation:1813031784"]}
{"category": ["biolink:Disease"], "description": "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0008296", "name": "Familial porphyria cutanea tarda", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["hereditary porphyria cutanea tarda", "porphyria cutanea tarda type II", "porphyria cutanea tarda, susceptibility to"], "xref": ["EFO:0009043", "GARD:0017750", "MEDGEN:75669", "OMIM:176100", "Orphanet:443062", "SCTID:59229005", "UMLS:C0268323", "icd11.foundation:1318287619"]}
{"category": ["biolink:Disease"], "description": "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.", "id": "MONDO:0008297", "name": "Variegate porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Protocoproporphyria", "protoporphyrinogen oxidase deficiency", "variegate porphyria"], "xref": ["DOID:4346", "GARD:0007848", "MEDGEN:58118", "MESH:D046350", "NANDO:1200814", "NANDO:2201265", "NCIT:C85219", "NORD:1821", "OMIM:176200", "Orphanet:79473", "SCTID:58275005", "UMLS:C0162532", "icd11.foundation:1227474618"]}
{"category": ["biolink:Disease"], "description": "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0008298", "name": "Postaxial tetramelic oligodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004065", "MEDGEN:357380", "MESH:C566767", "OMIM:176240", "Orphanet:2730", "UMLS:C1867924"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008299", "name": "Posterior column ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["posterior column ataxia"], "xref": ["MEDGEN:357379", "MESH:C536342", "OMIM:176250", "UMLS:C1867923"]}
{"category": ["biolink:Disease"], "description": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.", "id": "MONDO:0008300", "name": "Prader-willi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Prader-Labhart-Willi syndrome", "Prader-Willi syndrome", "Prader-Willi-Labhart syndrome", "Willi-Prader syndrome"], "xref": ["DOID:11983", "GARD:0005575", "ICD10CM:Q87.11", "ICD9:759.81", "MEDGEN:46057", "MESH:D011218", "MedDRA:10036476", "NANDO:1200678", "NANDO:2200411", "NCIT:C75463", "NORD:1602", "OMIM:176270", "Orphanet:739", "SCTID:89392001", "UMLS:C0032897", "icd11.foundation:393773440"]}
{"category": ["biolink:Disease"], "description": "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.", "id": "MONDO:0008301", "name": "Guttmacher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Guttmacher syndrome", "preaxial deficiency-postaxial polydactyly-hypospadias syndrome"], "xref": ["DOID:0111544", "GARD:0004470", "MEDGEN:401304", "MESH:C538278", "OMIM:176305", "Orphanet:2957", "SCTID:722452004", "UMLS:C1867801"]}
{"category": ["biolink:Disease"], "description": "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.", "id": "MONDO:0008302", "name": "Central precocious puberty 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KISS1R central precocious puberty", "central precocious puberty caused by mutation in KISS1R", "precocious puberty, central, 1", "precocious puberty, central, type 1"], "xref": ["DOID:0112310", "GARD:0024615", "MEDGEN:812209", "OMIM:176400", "UMLS:C3805879"]}
{"category": ["biolink:Disease"], "description": "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.", "id": "MONDO:0008303", "name": "Familial male-limited precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FMPP", "LHCGR peripheral precocious puberty", "familial gonadotropin-independent male-limited sexual precocity", "leydig cell adenoma, somatic, with precocious puberty", "male-limited precocious puberty", "peripheral precocious puberty caused by mutation in LHCGR", "precocious puberty, male", "testotoxicosis", "testotoxicosis, familial"], "xref": ["DOID:0111545", "GARD:0004475", "MEDGEN:87444", "MedDRA:10063654", "MedDRA:10063656", "OMIM:176410", "Orphanet:3000", "SCTID:237818003", "UMLS:C0342549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008304", "name": "Premature chromatid separation trait", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["premature chromatid separation trait"], "xref": ["MEDGEN:400517", "OMIM:176430", "UMLS:C1864389"]}
{"category": ["biolink:Disease"], "description": "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).", "id": "MONDO:0008305", "name": "Currarino triad", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Currarino syndrome", "Currarino triad"], "xref": ["DOID:0111546", "GARD:0001626", "ICD9:759.89", "MEDGEN:323460", "MESH:C536221", "OMIM:176450", "Orphanet:1552", "SCTID:413936007", "UMLS:C1531773", "icd11.foundation:1532133816"]}
{"category": ["biolink:Disease"], "description": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.", "id": "MONDO:0008306", "name": "Abri amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABri amyloidosis", "FBD", "cerebral amyloid angiopathy, British type", "cerebral amyloid angiopathy, ITM2B-related, type 1", "familial dementia, British type", "presenile dementia with spastic ataxia"], "xref": ["DOID:0070029", "GARD:0008344", "MEDGEN:1677186", "MESH:C538208", "OMIM:176500", "Orphanet:97345", "UMLS:C5190835", "icd11.foundation:1037669378", "icd11.foundation:1314005795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008307", "name": "Presenile dementia, kraepelin type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["presenile dementia, Kraepelin type"], "xref": ["MEDGEN:356847", "MESH:C535273", "OMIM:176600", "UMLS:C1867772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008308", "name": "Priapism, familial idiopathic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["priapism, familial idiopathic"], "xref": ["MEDGEN:356846", "MESH:C531791", "OMIM:176620", "UMLS:C1867771"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008309", "name": "Primary release disorder of platelets", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["primary release disorder of platelets"], "xref": ["GARD:0010357", "MEDGEN:356845", "MESH:C566759", "OMIM:176630", "UMLS:C1867770"]}
{"category": ["biolink:Disease"], "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).", "id": "MONDO:0008310", "name": "Hutchinson-gilford progeria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["HGPS", "Hutchinson-Gilford disease", "Hutchinson-Gilford progeria", "Hutchinson-Gilford progeria syndrome", "premature senility syndrome"], "xref": ["DOID:3911", "GARD:0007467", "ICD9:259.8", "MEDGEN:46123", "MedDRA:10036794", "NANDO:1201007", "NANDO:2200833", "NCIT:C34951", "NORD:1257", "OMIM:176670", "Orphanet:740", "SCTID:238870004", "UMLS:C0033300"]}
{"category": ["biolink:Disease"], "description": "Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.", "id": "MONDO:0008311", "name": "Progeria-short stature-pigmented nevi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mulvihill-Smith Syndrome", "Mulvihill-Smith syndrome"], "xref": ["DOID:0061154", "GARD:0004494", "ICD9:759.89", "MEDGEN:224702", "MESH:C536422", "NORD:1473", "OMIM:176690", "Orphanet:2959", "SCTID:399947002", "UMLS:C1261128"]}
{"category": ["biolink:Disease"], "description": "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).", "id": "MONDO:0008312", "name": "Autosomal dominant prognathism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010319", "MEDGEN:98316", "MESH:D008313", "OMIM:176700", "Orphanet:2964", "UMLS:C0399526"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008314", "name": "Pronation-supination of the forearm, impairment of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pronation-supination of the forearm, impairment of"], "xref": ["MEDGEN:356828", "MESH:C566757", "OMIM:176800", "UMLS:C1867726"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.", "id": "MONDO:0008315", "name": "Prostate cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of prostate gland", "malignant neoplasm of prostate", "malignant neoplasm of prostate gland", "malignant neoplasm of the prostate", "malignant prostate gland neoplasm", "malignant prostate neoplasm", "malignant prostate tumor", "malignant prostate tumour", "malignant tumor of prostate", "malignant tumor of the prostate", "malignant tumour of prostate", "malignant tumour of the prostate", "prostate gland cancer"], "xref": ["DOID:10283", "ICD10CM:C61", "ICD9:185", "MEDGEN:138169", "MESH:D011471", "NCIT:C7378", "SCTID:399068003", "UMLS:C0376358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008316", "name": "Thrombophilia due to protein c deficiency, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombophilia 3 due to protein C deficiency, autosomal dominant", "thrombophilia due to protein C deficiency, autosomal dominant"], "xref": ["DOID:0111909", "GARD:0018574", "MEDGEN:436138", "OMIM:176860", "UMLS:C2674321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008317", "name": "Proteolytic capacity of plasma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["proteolytic capacity of plasma"], "xref": ["MEDGEN:401269", "OMIM:176900", "UMLS:C1867621"]}
{"category": ["biolink:Disease"], "description": "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.", "id": "MONDO:0008318", "name": "Proteus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Proteus syndrome", "Wiedemann's syndrome", "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome", "proteus syndrome, somatic"], "xref": ["DOID:13482", "GARD:0007475", "ICD9:759.89", "MEDGEN:39008", "MESH:D016715", "NCIT:C85032", "NORD:1622", "OMIM:176920", "Orphanet:744", "SCTID:23150001", "UMLS:C0085261", "icd11.foundation:760267333"]}
{"category": ["biolink:Disease"], "description": "An erythropoietic protoporphyria caused by biallelic variants in FECH (an autosomal recessive inheritance pattern) and causing primarily accumulation of protoporphyrin IX. Symptoms include extremely painful photosensitivity in childhood, possible microcytic anemia, cholelithiasis, and ~5% of patients develop liver failure. The majority of individuals with FECH-related erythropoietic protoporphyria harbor a hypomorphic variant (NM_000140.5:c.315-48TC), which reduces enzyme levels by ~35%, in trans to a second pathogenic variant. Clinically individuals with this form of porphyria cannot be distinguished from those with ALAS2-related erythropoietic protoporphyria.", "id": "MONDO:0008319", "name": "Protoporphyria, erythropoietic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPP1", "FECH-related erythropoietic protoporphyria", "ferrochelatase deficiency", "heme synthetase deficiency", "protoporphyria, erythropoietic, 1"], "xref": ["GARD:0024616", "MEDGEN:1643471", "NANDO:1200815", "NANDO:2201266", "NCIT:C84698", "OMIM:177000", "UMLS:C4692546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008320", "name": "Protrusio acetabuli", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Protrusio acetabuli", "Protrusio acetabuli (disease)"], "xref": ["HP:0003179", "ICD10CM:M24.7", "MEDGEN:98369", "OMIM:177050", "SCTID:59606006", "UMLS:C0409495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008321", "name": "Pruritus, hereditary localized", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pruritus, hereditary localized"], "xref": ["MEDGEN:356792", "MESH:C566754", "OMIM:177100", "UMLS:C1867499"]}
{"category": ["biolink:Disease"], "description": "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.", "id": "MONDO:0008322", "name": "Pseudoachondroplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pseudoachondroplastic dysplasia", "Pseudoachondroplastic spondyloepiphyseal dysplasia", "pseudoachondroplasia", "pseudoachondroplastic dysplasia", "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC"], "xref": ["DOID:0080047", "GARD:0004540", "ICD9:756.9", "MEDGEN:98378", "MESH:C535819", "NANDO:2201018", "NCIT:C118635", "NORD:1625", "OMIM:177170", "Orphanet:750", "SCTID:22567005", "UMLS:C0410538", "icd11.foundation:1192649257"]}
{"category": ["biolink:Disease"], "description": "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.", "id": "MONDO:0008323", "name": "Liddle syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Liddle syndrome", "pseudoaldosteronism"], "xref": ["DOID:0050477", "GARD:0007381", "MEDGEN:67439", "MESH:D056929", "MedDRA:10037113", "MedDRA:10052313", "NANDO:2100131", "NANDO:2200363", "NCIT:C84827", "NORD:2034", "OMIMPS:177200", "Orphanet:526", "SCTID:707747007", "UMLS:C0221043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008324", "name": "Pseudoarthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pseudoarthrogryposis"], "xref": ["MEDGEN:356790", "MESH:C566753", "OMIM:177300", "UMLS:C1867485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008325", "name": "Pseudoatrophoderma colli", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pseudoatrophoderma colli"], "xref": ["MEDGEN:96061", "MESH:C562909", "OMIM:177350", "SCTID:238840009", "UMLS:C0406561"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.", "id": "MONDO:0008327", "name": "Exfoliation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["XFG", "XFS", "pseudoexfoliation glaucoma"], "xref": ["DOID:13641", "EFO:0004235", "GARD:0027786", "ICD9:365.52", "MEDGEN:60133", "MESH:D017889", "NCIT:C129025", "Orphanet:529819", "SCTID:111514006", "UMLS:C0206368"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008328", "name": "Glaucoma 1, open angle, p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glaucoma 1, open angle, P", "glaucoma 1, open angle, type P"], "xref": ["GARD:0024617", "MEDGEN:854866", "MESH:C566748", "OMIM:177700", "UMLS:C3888338"]}
{"category": ["biolink:Disease"], "description": "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.", "id": "MONDO:0008329", "name": "Autosomal dominant pseudohypoaldosteronism type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHA1A", "autosomal dominant pseudohypoaldosteronism type 1", "pseudohypoaldosteronism type i, autosomal dominant"], "xref": ["DOID:0060855", "GARD:0009145", "MEDGEN:260623", "NCIT:C126810", "OMIM:177735", "Orphanet:171871", "UMLS:C1449842"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008330", "name": "Pseudomonilethrix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pseudomonilethrix"], "xref": ["MEDGEN:96595", "MESH:C562988", "OMIM:177750", "SCTID:254229006", "UMLS:C0432346", "icd11.foundation:207127044"]}
{"category": ["biolink:Disease"], "description": "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.", "id": "MONDO:0008332", "name": "Platelet-type von willebrand disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT3", "PT-VWD", "platelet type-von Willebrand disease", "platelet-type von Willebrand disease", "pseudo-von Willebrand disease", "pseudo-von Willebrand disease type 2B"], "xref": ["DOID:0111056", "GARD:0008312", "MEDGEN:226914", "MESH:C536458", "NANDO:2200668", "NCIT:C131681", "OMIM:177820", "Orphanet:52530", "UMLS:C1280798"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant form of PXE.", "id": "MONDO:0008333", "name": "Pseudoxanthoma elasticum, forme fruste", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pseudoxanthoma elasticum, forme fruste"], "xref": ["GARD:0010104", "MEDGEN:357280", "OMIM:177850", "UMLS:C1867450"]}
{"category": ["biolink:Disease"], "description": "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.", "id": "MONDO:0008335", "name": "Short stature-craniofacial anomalies-genital hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Haspeslagh-Fryns-Muelenaere syndrome"], "xref": ["GARD:0002605", "MEDGEN:357988", "MESH:C535844", "OMIM:177980", "Orphanet:2994", "SCTID:716090004", "UMLS:C1867443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008336", "name": "Pterygium colli, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pterygium colli, isolated"], "xref": ["MEDGEN:356780", "MESH:C566741", "OMIM:177990", "UMLS:C1867442"]}
{"category": ["biolink:Disease"], "description": "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.", "id": "MONDO:0008337", "name": "Familial pterygium of the conjunctiva", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004569", "MEDGEN:896736", "MESH:C566740", "OMIM:178000", "Orphanet:2989", "UMLS:C4274782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008338", "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "distal arthrogryposis type 8", "multiple pterygium syndrome, autosomal dominant"], "xref": ["DOID:0081321", "GARD:0013058", "MEDGEN:401232", "MESH:C566739", "OMIM:178110", "Orphanet:65743", "UMLS:C1867440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008339", "name": "Antecubital pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["antecubital pterygium syndrome"], "xref": ["GARD:0004570", "MEDGEN:401231", "MESH:C566738", "OMIM:178200", "Orphanet:2987", "UMLS:C1867439"]}
{"category": ["biolink:Disease"], "description": "Congenital ptosis is characterized by superior eyelid drop present at birth.", "id": "MONDO:0008340", "name": "Congenital ptosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital eyelid ptosis", "congenital ptosis (disease)"], "xref": ["DOID:0060261", "GARD:0016798", "HP:0007970", "ICD9:743.61", "MEDGEN:357987", "MESH:C566737", "MedDRA:10015996", "NCIT:C27049", "Orphanet:91411", "SCTID:268163008", "UMLS:C1867438"]}
{"category": ["biolink:Disease"], "description": "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.", "id": "MONDO:0008341", "name": "Ptosis-strabismus-ectopic pupils syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McPherson-Hall syndrome"], "xref": ["GARD:0004577", "MEDGEN:356778", "MESH:C566736", "OMIM:178330", "Orphanet:2999", "UMLS:C1867437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008342", "name": "Pubic bone dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pubic bone dysplasia"], "xref": ["MEDGEN:356777", "MESH:C566735", "OMIM:178350", "UMLS:C1867436"]}
{"category": ["biolink:Disease"], "description": "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.", "id": "MONDO:0008343", "name": "Pulmonary atresia with ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pulmonary atresia with ventricular septal defect", "pulmonary valve atresia with ventricular septal defect"], "xref": ["GARD:0004588", "MEDGEN:87492", "MESH:C562833", "NANDO:1200708", "NANDO:2200252", "NCIT:C99033", "OMIM:178370", "Orphanet:1207", "SCTID:253591008", "UMLS:C0344976"]}
{"category": ["biolink:Disease"], "description": "A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.", "id": "MONDO:0008346", "name": "Pulmonary hemosiderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Idiopathic Pulmonary Hemosiderosis", "idiopathic pulmonary hemosiderosis", "pulmonary hemosiderosis", "pulmonary siderosis"], "xref": ["DOID:10328", "DOID:12118", "GARD:0006763", "ICD10CM:J84.03", "ICD9:516.1", "MEDGEN:9403", "MESH:D012806", "NANDO:1200751", "NANDO:2100037", "NANDO:2200207", "NORD:91174", "OMIM:178550", "Orphanet:99931", "SCTID:40527005", "UMLS:C0020807", "icd11.foundation:1542272036"]}
{"category": ["biolink:Disease"], "description": "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.", "id": "MONDO:0008348", "name": "Pulmonary nodular lymphoid hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pulmonary pseudolymphoma"], "xref": ["GARD:0016663", "MEDGEN:401226", "OMIM:178610", "Orphanet:60026", "SCTID:718097008", "UMLS:C1867419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008349", "name": "Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities"], "xref": ["MEDGEN:357274", "MESH:C566733", "OMIM:178650", "UMLS:C1867407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008350", "name": "Pulmonic stenosis and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonic stenosis and deafness"], "xref": ["MEDGEN:357273", "OMIM:178651", "UMLS:C1867406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008352", "name": "Pupillary membrane, persistence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pupillary membrane, persistence of"], "xref": ["MEDGEN:124386", "MESH:C562700", "OMIM:178900", "UMLS:C0271130"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008353", "name": "Pruritic urticarial papules and plaques of pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["polymorphic eruption of pregnancy", "pruritic urticarial papules and plaques of pregnancy"], "xref": ["GARD:0009635", "ICD10CM:O26.86", "ICD9:646.80", "ICD9:692.9", "MEDGEN:78710", "MESH:C535817", "MedDRA:10066100", "OMIM:178995", "Orphanet:64745", "SCTID:88697005", "UMLS:C0269680", "icd11.foundation:968694549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008354", "name": "Purpura simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["purpura simplex"], "xref": ["ICD9:287.2", "MEDGEN:124424", "MESH:C536249", "OMIM:179000", "SCTID:277791008", "UMLS:C0272309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008355", "name": "Pyloric stenosis, infantile hypertrophic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IHPS1", "pyloric stenosis, infantile hypertrophic 1, multifactorial", "pyloric stenosis, infantile hypertrophic, 1"], "xref": ["MEDGEN:357978", "OMIM:179010", "UMLS:C1867403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008356", "name": "Radial heads, posterior dislocation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["radial heads, posterior dislocation of"], "xref": ["MEDGEN:357272", "MESH:C566728", "OMIM:179200", "UMLS:C1867398"]}
{"category": ["biolink:Disease"], "description": "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.", "id": "MONDO:0008357", "name": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Schmitt Gillenwater Kelly syndrome", "Schmitt-Gillenwater-Kelly syndrome", "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema", "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema"], "xref": ["GARD:0000258", "MEDGEN:357271", "MESH:C536262", "OMIM:179250", "Orphanet:2252", "SCTID:716092007", "UMLS:C1867397"]}
{"category": ["biolink:Disease"], "description": "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.", "id": "MONDO:0008358", "name": "Radial ray hypoplasia-choanal atresia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Goldblatt-Viljoen syndrome"], "xref": ["GARD:0004627", "MEDGEN:419083", "OMIM:179270", "Orphanet:3026", "SCTID:232373003", "UMLS:C2931464"]}
{"category": ["biolink:Disease"], "description": "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0008359", "name": "Radio-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000224", "MEDGEN:419723", "MESH:C536267", "OMIM:179280", "Orphanet:3015", "SCTID:766765009", "UMLS:C2931146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008361", "name": "Radius, aplasia of, with cleft lip/palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["radius, aplasia of, with cleft lip/palate"], "xref": ["MEDGEN:357270", "OMIM:179400", "UMLS:C1867395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008362", "name": "Ragweed sensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ragweed sensitivity"], "xref": ["MEDGEN:356768", "MESH:C566725", "OMIM:179450", "UMLS:C1867394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008363", "name": "Raindrop hypopigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["raindrop hypopigmentation"], "xref": ["MEDGEN:356767", "MESH:C566724", "OMIM:179500", "UMLS:C1867393"]}
{"category": ["biolink:Disease"], "description": "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.", "id": "MONDO:0008364", "name": "Raynaud disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Raynaud disease", "Raynaud syndrome", "Raynaud's disease", "Raynaud's syndrome", "Raynaud's syndrome (disorder) [ambiguous]", "secondary Raynaud disease", "secondary Raynaud phenomenon", "secondary Raynaud's disease", "secondary Raynaud's phenomenon"], "xref": ["DOID:10300", "EFO:1001145", "ICD10CM:I73.0", "ICD9:443.0", "MEDGEN:20473", "MESH:D011928", "NCIT:C116359", "OMIM:179600", "SCTID:195295006", "UMLS:C0034734"]}
{"category": ["biolink:Disease"], "description": "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.", "id": "MONDO:0008365", "name": "Recombinant 8 syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 8q/deletion 8p", "Rec(8) syndrome", "Rec8 syndrome", "Recombinant chromosome 8 syndrome", "San Luis Valley syndrome"], "xref": ["GARD:0009698", "MEDGEN:167070", "MESH:C535296", "OMIM:179613", "Orphanet:96167", "SCTID:718189004", "UMLS:C0795822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008366", "name": "Red cell permeability defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["red cell permeability defect"], "xref": ["MEDGEN:357961", "OMIM:179650", "UMLS:C1867340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008367", "name": "Red cell phospholipid defect with hemolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["red cell phospholipid defect with hemolysis"], "xref": ["MEDGEN:357960", "MESH:C535298", "NANDO:2200634", "OMIM:179700", "UMLS:C1867339"]}
{"category": ["biolink:Disease"], "description": "A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.", "id": "MONDO:0008368", "name": "Autosomal dominant distal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AD dRTA", "DRTA1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "distal renal tubular acidosis (disease), autosomal dominant", "renal tubular acidosis, distal 1"], "xref": ["GARD:0004668", "OMIM:179800", "Orphanet:93608"]}
{"category": ["biolink:Disease"], "description": "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.", "id": "MONDO:0008369", "name": "Proximal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Type 2 RTA", "Type 2 renal tubular acidosis", "pRTA", "renal tubular acidosis type 2"], "xref": ["DOID:0061165", "GARD:0016644", "ICD9:588.89", "MEDGEN:82804", "MedDRA:10037080", "OMIM:179830", "Orphanet:47159", "SCTID:24790002", "UMLS:C0268435"]}
{"category": ["biolink:Disease"], "description": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.", "id": "MONDO:0008371", "name": "Dowling-degos disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dowling-Degos disease type 1", "reticular pigment anomaly of flexures"], "xref": ["DOID:0060256", "GARD:0009775", "MEDGEN:811363", "MESH:C562924", "MedDRA:10068651", "Orphanet:79145", "UMLS:C3714534", "icd11.foundation:15123132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008372", "name": "Retinal aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinal aplasia"], "xref": ["GARD:0015109", "MEDGEN:356752", "MESH:C566720", "OMIM:179900", "UMLS:C1867331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008373", "name": "Retinal arterial tortuosity", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinal arterial tortuosity", "retinal arterial tortuosity (disease)", "retinal arteriolar tortuosity", "retinal haemorrhage with vascular tortuosity", "retinal hemorrhage with vascular tortuosity", "tortuosity of retinal arteries"], "xref": ["DOID:0111547", "GARD:0016693", "HP:0001136", "MEDGEN:140840", "OMIM:180000", "Orphanet:75326", "UMLS:C0423401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008374", "name": "Retinal cone dystrophy type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinal cone dystrophy-1"], "xref": ["DOID:0081024", "GARD:0003196", "MEDGEN:356747", "MESH:C566719", "OMIM:180020", "UMLS:C1867326"]}
{"category": ["biolink:Disease"], "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.", "id": "MONDO:0008375", "name": "Retinal detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["detached retina", "retina, detached", "retinal detachment"], "xref": ["DOID:5327", "EFO:0005773", "ICD9:361.89", "ICD9:361.9", "ICD9:362.40", "MEDGEN:19759", "MESH:D012163", "NCIT:C26874", "OMIM:180050", "OMIM:312530", "SCTID:42059000", "UMLS:C0035305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008376", "name": "Retinal venous beading", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinal venous beading"], "xref": ["MEDGEN:422473", "OMIM:180080", "UMLS:C2939143"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.", "id": "MONDO:0008377", "name": "Retinitis pigmentosa 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP1", "RP1 retinitis pigmentosa", "retinitis pigmentosa 1", "retinitis pigmentosa caused by mutation in RP1", "retinitis pigmentosa type 1"], "xref": ["DOID:0110390", "GARD:0009149", "MEDGEN:67395", "MESH:C538365", "OMIM:180100", "UMLS:C0220701"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.", "id": "MONDO:0008378", "name": "Retinitis pigmentosa 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP9", "RP9 retinitis pigmentosa", "retinitis pigmentosa 9", "retinitis pigmentosa caused by mutation in RP9", "retinitis pigmentosa type 9"], "xref": ["DOID:0110387", "GARD:0010382", "MEDGEN:356743", "MESH:C566716", "OMIM:180104", "UMLS:C1867300"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.", "id": "MONDO:0008379", "name": "Retinitis pigmentosa 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPDH1 retinitis pigmentosa", "RP10", "retinitis pigmentosa 10", "retinitis pigmentosa caused by mutation in IMPDH1", "retinitis pigmentosa type 10"], "xref": ["DOID:0110388", "GARD:0015110", "MEDGEN:357247", "MESH:C566715", "OMIM:180105", "UMLS:C1867299"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.", "id": "MONDO:0008380", "name": "Retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RB", "retinoblastoma", "retinoblastoma, malignant"], "xref": ["DOID:768", "GARD:0007563", "ICDO:9510/3", "MEDGEN:20552", "MESH:D012175", "MedDRA:10038916", "NANDO:2200042", "NCIT:C7541", "ONCOTREE:RBL", "Orphanet:790", "SCTID:370967009", "UMLS:C0035335", "icd11.foundation:1855353671"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.", "id": "MONDO:0008381", "name": "Dominant pericentral pigmentary retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110420", "GARD:0015111", "MEDGEN:357237", "MESH:C566713", "OMIM:180210", "UMLS:C1867261"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of retinoschisis.", "id": "MONDO:0008382", "name": "Retinoschisis, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autosomal dominant retinoschisis", "retinoschisis, autosomal dominant"], "xref": ["GARD:0009144", "MEDGEN:357940", "MESH:C000598640", "OMIM:180270", "UMLS:C1867235"]}
{"category": ["biolink:Disease"], "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.", "id": "MONDO:0008383", "name": "Rheumatoid arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["RA", "rheumatoid arthritis"], "xref": ["DOID:7148", "EFO:0000685", "HP:0001370", "ICD9:714.0", "MEDGEN:2078", "MESH:D001172", "NCIT:C2884", "OMIM:180300", "Orphanet:284130", "SCTID:69896004", "UMLS:C0003873", "icd11.foundation:576319925"]}
{"category": ["biolink:Disease"], "description": "A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.", "id": "MONDO:0008384", "name": "Rheumatoid nodulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["accelerated rheumatoid nodulosis", "rheumatoid nodulosis"], "xref": ["MEDGEN:19781", "MESH:D012218", "OMIM:180350", "SCTID:402426007", "SCTID:402427003", "UMLS:C0035450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008385", "name": "Rhiny", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["rhiny"], "xref": ["MEDGEN:401188", "MESH:C566708", "OMIM:180360", "UMLS:C1867222"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.", "id": "MONDO:0008386", "name": "Axenfeld-rieger syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Axenfeld-Rieger syndrome caused by mutation in PITX2", "Axenfeld-Rieger syndrome type 1", "PITX2 Axenfeld-Rieger syndrome", "RIEG1", "Rieger syndrome type 1"], "xref": ["DOID:0110120", "GARD:0010281", "MEDGEN:811487", "NCIT:C75015", "OMIM:180500", "UMLS:C3714873"]}
{"category": ["biolink:Disease"], "description": "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.", "id": "MONDO:0008387", "name": "Ring dermoid of cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring dermoid syndrome", "ring dermoid of cornea"], "xref": ["DOID:0111548", "GARD:0009696", "MEDGEN:357922", "MESH:C535684", "OMIM:180550", "Orphanet:91481", "SCTID:723499000", "UMLS:C1867155", "icd11.foundation:271430543"]}
{"category": ["biolink:Disease"], "description": "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.", "id": "MONDO:0008388", "name": "Ringed hair disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pili annulati"], "xref": ["GARD:0004359", "MEDGEN:75523", "MESH:C537187", "OMIM:180600", "Orphanet:169", "SCTID:21926007", "UMLS:C0263489"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.", "id": "MONDO:0008389", "name": "Autosomal dominant robinow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Robinow syndrome, autosomal dominant", "Robinow syndrome, autosomal dominant type", "autosomal dominant Robinow syndrome"], "xref": ["GARD:0016620", "ICD9:759.89", "MEDGEN:1675001", "Orphanet:3107", "SCTID:76520005", "UMLS:C5200540", "icd11.foundation:807338758"]}
{"category": ["biolink:Disease"], "description": "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.", "id": "MONDO:0008390", "name": "Rombo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rombo syndrome"], "xref": ["GARD:0004738", "MEDGEN:356704", "MESH:C535870", "OMIM:180730", "Orphanet:3110", "SCTID:721904001", "UMLS:C1867147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008391", "name": "Robinow-sorauf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Robinow-Sorauf syndrome"], "xref": ["GARD:0004730", "MEDGEN:356703", "MESH:C537183", "OMIM:180750", "Orphanet:3106", "UMLS:C1867146", "icd11.foundation:1272297510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008392", "name": "Roussy-levy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Roussy Lévy Syndrome", "Roussy levy syndrome", "Roussy-Lévy syndrome", "Roussy-levy disease", "Roussy-levy syndrome", "hereditary areflexic dystasia, Roussy-Lévy type", "hereditary areflexic dystasia, Roussy-levy type"], "xref": ["GARD:0004741", "ICD9:334.3", "MEDGEN:64430", "NORD:1679", "OMIM:180800", "Orphanet:3115", "SCTID:45853006", "UMLS:C0205713", "icd11.foundation:1790389383"]}
{"category": ["biolink:Disease"], "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.", "id": "MONDO:0008393", "name": "Rubinstein-taybi syndrome due to crebbp mutations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CREBBP Rubinstein-Taybi syndrome", "RSTS1", "Rubinstein-Taybi syndrome 1", "Rubinstein-Taybi syndrome caused by mutation in CREBBP", "Rubinstein-Taybi syndrome due to CREBBP mutations", "Rubinstein-Taybi syndrome type 1"], "xref": ["GARD:0017534", "MEDGEN:1639327", "NCIT:C153290", "OMIM:180849", "Orphanet:353277", "UMLS:C4551859"]}
{"category": ["biolink:Disease"], "description": "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.", "id": "MONDO:0008394", "name": "Silver-russell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Russell Silver syndrome", "Russell-Silver Syndrome", "Russell-Silver dwarfism", "Russell-Silver syndrome", "SRS", "Silver Russell syndrome", "Silver-Russell dwarfism", "Silver-Russell syndrome"], "xref": ["DOID:14681", "GARD:0004870", "ICD9:759.89", "MEDGEN:104492", "MESH:D056730", "MedDRA:10062282", "NCIT:C85068", "NORD:1683", "OMIMPS:180860", "Orphanet:813", "SCTID:15069006", "UMLS:C0175693", "icd11.foundation:735297495"]}
{"category": ["biolink:Disease"], "description": "An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.", "id": "MONDO:0008395", "name": "Ruvalcaba syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ruvalcaba syndrome"], "xref": ["GARD:0004748", "ICD9:759.89", "MEDGEN:120520", "MESH:C579395", "OMIM:180870", "Orphanet:3121", "SCTID:3073006", "UMLS:C0265248"]}
{"category": ["biolink:Disease"], "description": "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.", "id": "MONDO:0008396", "name": "Oculodental syndrome, rutherfurd type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rutherfurd syndrome", "corneal dystrophy with gum Hypertrophy", "corneal dystrophy with gum hypertrophy", "gingival Hypertrophy with corneal dystrophy", "gingival hypertrophy corneal dystrophy", "gingival hypertrophy-corneal dystrophy"], "xref": ["GARD:0000212", "ICD9:759.89", "MEDGEN:163222", "MESH:C537732", "OMIM:180900", "Orphanet:2709", "SCTID:699754008", "UMLS:C0796140", "icd11.foundation:183543626"]}
{"category": ["biolink:Disease"], "description": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.", "id": "MONDO:0008397", "name": "Aplasia of lacrimal and salivary glands", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALSG", "aplasia of lacrimal and salivary glands", "congenital absence of lacrimal puncta and salivary glands"], "xref": ["DOID:0111549", "GARD:0016759", "MEDGEN:57641", "OMIM:180920", "Orphanet:86815", "SCTID:715656004", "UMLS:C0158667", "icd11.foundation:539255304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008398", "name": "Salivary substance, clostridium botulinum type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["salivary substance, Clostridium botulinum type"], "xref": ["MEDGEN:356679", "OMIM:180950", "UMLS:C1867056"]}
{"category": ["biolink:Disease"], "description": "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.", "id": "MONDO:0008400", "name": "Salivary duct calculi", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["salivary duct calculi"], "xref": ["MEDGEN:19865", "MESH:D012465", "OMIM:181010", "UMLS:C0036089"]}
{"category": ["biolink:Disease"], "description": "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).", "id": "MONDO:0008401", "name": "Pleomorphic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:rare"], "synonym": ["adenomas, salivary gland pleomorphic, somatic", "pleomorphic adenoma", "pleomorphic adenoma (morphologic abnormality)", "tumor, mixed, benign"], "xref": ["DOID:452", "GARD:0017789", "ICDO:8940/0", "MEDGEN:275400", "MESH:D008949", "NCIT:C8602", "OMIM:181030", "Orphanet:454821", "SCTID:447888006", "UMLS:C1519176"]}
{"category": ["biolink:Disease"], "description": "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.", "id": "MONDO:0008402", "name": "Cleft palate-large ears-small head syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Say-Barber-Hobbs syndrome"], "xref": ["GARD:0000162", "MEDGEN:357895", "MESH:C536621", "OMIM:181180", "Orphanet:2013", "SCTID:763130006", "UMLS:C1867023"]}
{"category": ["biolink:Disease"], "description": "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.", "id": "MONDO:0008403", "name": "Scalp defects-postaxial polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000241", "MEDGEN:401140", "MESH:C536622", "OMIM:181250", "Orphanet:1003", "UMLS:C1867021"]}
{"category": ["biolink:Disease"], "description": "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.", "id": "MONDO:0008404", "name": "Scalp-ear-nipple syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Finlay-Marks syndrome", "scalp-ear-nipple syndrome"], "xref": ["DOID:0111550", "GARD:0000159", "MEDGEN:357183", "MESH:C536623", "OMIM:181270", "Orphanet:2036", "SCTID:721888002", "UMLS:C1867020", "icd11.foundation:88843032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008407", "name": "Neurogenic scapuloperoneal syndrome, kaeser type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaeser syndrome", "stark-Kaeser syndrome"], "xref": ["DOID:0111551", "GARD:0010312", "MEDGEN:356670", "MESH:C566695", "OMIM:181400", "Orphanet:85146", "UMLS:C1867005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008408", "name": "Scapuloperoneal spinal muscular atrophy, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPSMA", "neurogenic scapuloperoneal amyotrophy, New England type", "scapuloperoneal neuronopathy", "scapuloperoneal spinal muscular atrophy"], "xref": ["DOID:0111552", "EFO:1001992", "GARD:0010314", "ICD9:335.19", "MEDGEN:148283", "OMIM:181405", "Orphanet:431255", "SCTID:230248006", "UMLS:C0751335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008409", "name": "Congenital myopathy 7a, myosin storage, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MSMA", "MYH7-related late-onset SPMD", "MYH7-related late-onset scapuloperoneal muscular dystrophy", "MYH7-related late-onset scapuloperoneal syndrome", "MYH7-related scapuloperoneal myopathy", "SPMD", "SPMM", "autosomal dominant myosin storage myopathy", "myopathy with lysis of type 1 myofibrils", "myopathy, hyaline body, autosomal dominant", "myopathy, myosin storage, autosomal dominant", "scapuloperoneal muscular dystrophy", "scapuloperoneal myopathy, MYH7-related", "scapuloperoneal syndrome, myopathic type"], "xref": ["DOID:0111269", "GARD:0015429", "ICD9:359.89", "MEDGEN:374868", "MESH:C564253", "OMIM:181430", "OMIM:608358", "Orphanet:437572", "Orphanet:636965", "UMLS:C1842160"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.", "id": "MONDO:0008410", "name": "Scheuermann disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Calve's disease", "Scheuermann disease", "Scheuermann's disease", "familial Scheuermann juvenile kyphosis", "familial spinal osteochondrosis", "juvenile osteochondrosis of spine"], "xref": ["DOID:13300", "ICD9:732.0", "MEDGEN:19885", "MESH:D012544", "NCIT:C34999", "OMIM:181440", "Orphanet:3135", "SCTID:53406005", "UMLS:C0036310"]}
{"category": ["biolink:Disease"], "description": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.", "id": "MONDO:0008411", "name": "Ulnar-mammary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pallister ulnar-mammary syndrome", "Schinzel Syndrome", "Schinzel syndrome", "UMS", "ulnar-mammary syndrome", "ums"], "xref": ["DOID:0060614", "GARD:0000118", "ICD9:759.89", "MEDGEN:357886", "MESH:C536937", "NORD:1695", "OMIM:181450", "Orphanet:3138", "SCTID:700211007", "UMLS:C1866994", "icd11.foundation:1508836700"]}
{"category": ["biolink:Disease"], "description": "An intestinal infection that is caused by Schistosoma japonicum.", "id": "MONDO:0008412", "name": "Intestinal schistosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0050597", "GARD:0024618", "ICD9:120.1", "ICD9:120.2", "MEDGEN:116602", "SCTID:240796008", "UMLS:C0242497"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.", "id": "MONDO:0008414", "name": "Schizophrenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD1", "schizophrenia 1"], "xref": ["DOID:0070077", "MEDGEN:65084", "OMIM:181510", "UMLS:C0220702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008416", "name": "Palmoplantar keratoderma-sclerodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Huriez syndrome", "Scleroatrophic syndrome", "Sclerotylosis", "palmoplantar hyperkeratosis-sclerodactyly syndrome"], "xref": ["GARD:0008517", "ICD9:757.39", "MEDGEN:98360", "MESH:C537526", "OMIM:181600", "Orphanet:384", "SCTID:239076000", "UMLS:C0406767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008417", "name": "Sclerocornea, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sclerocornea, autosomal dominant"], "xref": ["GARD:0024619", "MEDGEN:356662", "MESH:C566692", "OMIM:181700", "UMLS:C1866984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008418", "name": "Scleroderma, familial progressive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["scleroderma, familial progressive"], "xref": ["GARD:0024620", "MEDGEN:356661", "OMIM:181750", "UMLS:C1866983"]}
{"category": ["biolink:Disease"], "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.", "id": "MONDO:0008420", "name": "Seborrheic keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal cell papilloma", "keratosis Seborrheica", "keratosis, seborrheic, somatic"], "xref": ["DOID:6498", "EFO:0005584", "ICD10CM:L82", "ICD9:702.1", "MEDGEN:5957", "MESH:D017492", "NCIT:C9006", "OMIM:182000", "SCTID:398838000", "UMLS:C0022603", "Wikipedia:Seborrheic_keratosis"]}
{"category": ["biolink:Disease"], "description": "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.", "id": "MONDO:0008421", "name": "Flat face-microstomia-ear anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Simosa-Penchaszadeh-Bustos syndrome", "blepharophimosis-telecanthus-microstomia syndrome"], "xref": ["GARD:0004873", "MEDGEN:356655", "MESH:C537339", "OMIM:182150", "Orphanet:1968", "UMLS:C1866962"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of sideroblastic anemia.", "id": "MONDO:0008422", "name": "Autosomal dominant sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["sideroblastic anemia, autosomal dominant"], "xref": ["DOID:0060335", "GARD:0018380", "MEDGEN:902781", "MESH:C567160", "OMIM:182170", "UMLS:C4225428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008423", "name": "Sinus node disease and myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sinus node disease and myopia"], "xref": ["GARD:0004880", "MEDGEN:401121", "MESH:C566690", "OMIM:182190", "UMLS:C1866960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008424", "name": "Sella turcica, bridged", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sella turcica, bridged"], "xref": ["MEDGEN:356654", "MESH:C566689", "OMIM:182200", "UMLS:C1866959"]}
{"category": ["biolink:Disease"], "description": "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.", "id": "MONDO:0008425", "name": "Omphalocele syndrome, shprintzen-goldberg type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009850", "MEDGEN:356653", "MESH:C537329", "OMIM:182210", "Orphanet:3164", "SCTID:716230005", "UMLS:C1866958"]}
{"category": ["biolink:Disease"], "description": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.", "id": "MONDO:0008426", "name": "Shprintzen-goldberg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marfanoid craniosynostosis syndrome", "SGS", "Shprintzen Goldberg Syndrome", "Shprintzen-Goldberg syndrome"], "xref": ["GARD:0004861", "MEDGEN:231160", "NCIT:C124840", "NORD:1908", "OMIM:182212", "Orphanet:2462", "SCTID:719069008", "UMLS:C1321551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008427", "name": "Sister chromatid exchange, frequency of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sister chromatid exchange, frequency of"], "xref": ["MEDGEN:357877", "OMIM:182220", "UMLS:C1866942"]}
{"category": ["biolink:Disease"], "description": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.", "id": "MONDO:0008428", "name": "Septooptic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["De Morsier syndrome", "SOD", "septo-optic dysplasia", "septo-optic dysplasia sequence", "septooptic dysplasia"], "xref": ["DOID:0060857", "GARD:0007627", "MEDGEN:90926", "MESH:D025962", "MedDRA:10067159", "NANDO:1200560", "NANDO:1200561", "NANDO:2200820", "NCIT:C85063", "OMIM:182230", "Orphanet:3157", "SCTID:7611002", "UMLS:C0338503"]}
{"category": ["biolink:Disease"], "description": "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).", "id": "MONDO:0008429", "name": "Singleton-merten dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Merten-Singleton syndrome", "Singleton Merten syndrome", "Singleton-Merten syndrome", "singleton Merten syndrome"], "xref": ["GARD:0000122", "ICD9:733.29", "MEDGEN:98481", "MESH:C537343", "NORD:1718", "OMIMPS:182250", "Orphanet:85191", "SCTID:254114000", "UMLS:C0432254", "icd11.foundation:1084593684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008430", "name": "Skeletal dysplasia with delayed epiphyseal and carpal bone ossification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skeletal dysplasia with delayed epiphyseal and carpal bone ossification"], "xref": ["MEDGEN:356650", "MESH:C566687", "OMIM:182255", "UMLS:C1866939"]}
{"category": ["biolink:Disease"], "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.", "id": "MONDO:0008433", "name": "Small cell lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Small cell lung cancer", "lung oat cell carcinoma", "lung small cell carcinoma", "lung small cell neuroendocrine carcinoma", "oat cell carcinoma of lung", "oat cell carcinoma of the lung", "oat cell lung carcinoma", "small cell cancer of the lung, somatic", "small cell carcinoma of lung", "small cell carcinoma of the lung", "small cell lung cancer", "small cell neuroendocrine carcinoma of lung", "small cell neuroendocrine carcinoma of the lung", "small-cell cancer of lung"], "xref": ["DOID:5409", "DOID:5411", "EFO:0000702", "GARD:0009344", "ICD9:162.9", "MEDGEN:57450", "MESH:D055752", "NCIT:C4917", "OMIM:182280", "ONCOTREE:SCLC", "Orphanet:70573", "SCTID:254632001", "UMLS:C0149925", "icd11.foundation:1800431439"]}
{"category": ["biolink:Disease"], "description": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.", "id": "MONDO:0008434", "name": "Smith-magenis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17p11.2 microdeletion syndrome", "SMITH-Magenis syndrome", "SMS", "Smith Magenis Syndrome", "Smith-Magenis syndrome", "Smith-Magenis syndrome, Isolated cases", "chromosome 17P11.2 deletion syndrome", "chromosome 17p11.2 deletion syndrome"], "xref": ["DECIPHER:8", "DOID:0060768", "GARD:0008197", "ICD9:758.33", "MEDGEN:162881", "MESH:D058496", "NANDO:1200687", "NANDO:2200954", "NCIT:C75469", "NORD:1725", "OMIM:182290", "Orphanet:819", "SCTID:401315004", "UMLS:C0795864", "icd11.foundation:989025532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008435", "name": "Somatomedin, embryonic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Somatomedin, embryonic"], "xref": ["MEDGEN:401103", "OMIM:182400", "UMLS:C1866879"]}
{"category": ["biolink:Disease"], "description": "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.", "id": "MONDO:0008436", "name": "Sneddon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ehrmann-Sneddon syndrome", "Sneddon syndrome", "livedo racemosa-cerebrovascular accident syndrome", "livedo reticularis-cerebrovascular accident syndrome"], "xref": ["DOID:13096", "EFO:1001186", "GARD:0007664", "MEDGEN:76449", "MESH:D018860", "MedDRA:10053841", "NORD:1726", "OMIM:182410", "Orphanet:820", "SCTID:238776001", "UMLS:C0282492", "icd11.foundation:1474816492"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.", "id": "MONDO:0008437", "name": "Hereditary spastic paraplegia 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATL1 hereditary spastic paraplegia", "FSP1", "SPG3A", "Strümpell disease", "autosomal dominant spastic paraplegia type 3", "hereditary spastic paraplegia caused by mutation in ATL1", "hereditary spastic paraplegia type 3A", "spastic Paraplegia 3A", "spastic paraplegia 3a, autosomal dominant", "strumpell disease"], "xref": ["DOID:0110791", "GARD:0005041", "MEDGEN:419393", "MESH:C536864", "NCIT:C142893", "OMIM:182600", "Orphanet:100984", "UMLS:C2931355"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.", "id": "MONDO:0008438", "name": "Hereditary spastic paraplegia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPAST hereditary spastic paraplegia", "SPG4", "autosomal dominant spastic paraplegia type 4", "hereditary spastic paraplegia 4", "hereditary spastic paraplegia caused by mutation in SPAST", "hereditary spastic paraplegia type 4"], "xref": ["DOID:0110792", "GARD:0004925", "MEDGEN:401097", "MESH:C536865", "NCIT:C129981", "OMIM:182601", "Orphanet:100985", "SCTID:723820001", "UMLS:C1866855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008439", "name": "Spastic paraplegia-epilepsy-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPEMR"], "xref": ["GARD:0004915", "MEDGEN:356631", "MESH:C536869", "OMIM:182610", "Orphanet:2816", "UMLS:C1866854"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.", "id": "MONDO:0008440", "name": "Spastic paraplegia-nephritis-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fitzsimmons-Walson-Mellor syndrome"], "xref": ["GARD:0002342", "MEDGEN:355816", "MESH:C537937", "OMIM:182690", "Orphanet:2820", "UMLS:C1866853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008441", "name": "Spastic paraplegia with associated extrapyramidal signs", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic paraplegia with associated extrapyramidal signs"], "xref": ["MEDGEN:355815", "MESH:C566681", "OMIM:182800", "UMLS:C1866852"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.", "id": "MONDO:0008442", "name": "Spastic paraplegia-neuropathy-poikiloderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Antinolo-Nieto-Borrego syndrome"], "xref": ["GARD:0004921", "MEDGEN:355814", "MESH:C536870", "OMIM:182815", "Orphanet:2821", "UMLS:C1866851"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.", "id": "MONDO:0008443", "name": "Spastic paraplegia-precocious puberty syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004918", "MEDGEN:401096", "MESH:C536874", "OMIM:182820", "Orphanet:2826", "UMLS:C1866850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008444", "name": "Spastic paraplegia, optic atrophy, and dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic paraplegia, optic atrophy, and dementia"], "xref": ["MEDGEN:356630", "MESH:C566679", "OMIM:182830", "UMLS:C1866849"]}
{"category": ["biolink:Disease"], "description": "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.", "id": "MONDO:0008445", "name": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mehes syndrome"], "xref": ["GARD:0003449", "MEDGEN:355803", "OMIM:182875", "Orphanet:3038", "SCTID:716199000", "UMLS:C1866802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008446", "name": "Sperm protamine p4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sperm protamine P4"], "xref": ["MEDGEN:355802", "OMIM:182882", "UMLS:C1866801"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.", "id": "MONDO:0008447", "name": "Hereditary spherocytosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANK1 hereditary spherocytosis", "HS1", "SPH1", "hereditary spherocytosis caused by mutation in ANK1"], "xref": ["DOID:0110916", "GARD:0024621", "MEDGEN:382302", "OMIM:182900", "UMLS:C2674218"]}
{"category": ["biolink:Disease"], "description": "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.", "id": "MONDO:0008449", "name": "Spina bifida", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rachischisis", "spina bifida", "spina bifida (disease)", "spinal meningocele", "spinal myelocele", "spinal myelomeningocele"], "xref": ["DOID:0080016", "EFO:0003105", "HP:0002414", "ICD10CM:Q05", "ICD10WHO:Q05", "ICD9:741", "MEDGEN:38283", "MESH:D016135", "NCIT:C101214", "SCTID:67531005", "UMLS:C0080178", "icd11.foundation:2036217905"]}
{"category": ["biolink:Disease"], "description": "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.", "id": "MONDO:0008450", "name": "Spinal arachnoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["arachnoiditis, spinal", "spinal arachnoiditis"], "xref": ["GARD:0015113", "MEDGEN:318191", "MESH:C531624", "NCIT:C50749", "OMIM:182950", "SCTID:426055002", "UMLS:C1710146", "icd11.foundation:1074591848"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.", "id": "MONDO:0008451", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, spinal, I", "DHMN1", "autosomal dominant distal juvenile spinal muscular atrophy type 1", "dHMN1", "distal hereditary motor neuronopathy type I", "neuronopathy, distal hereditary motor, type 1"], "xref": ["DOID:0111200", "GARD:0016953", "MEDGEN:356618", "MESH:C566675", "NCIT:C132826", "OMIM:182960", "Orphanet:139518", "UMLS:C1866784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008452", "name": "Spinal muscular atrophy, facioscapulohumeral type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spinal muscular atrophy, facioscapulohumeral type"], "xref": ["GARD:0024622", "MEDGEN:357136", "MESH:C566674", "OMIM:182970", "UMLS:C1866783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008453", "name": "Adult-onset proximal spinal muscular atrophy, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Finkel disease", "autosomal dominant adult-onset proximal SMA", "autosomal dominant late-onset spinal muscular atrophy, Finkel type"], "xref": ["DOID:0111194", "GARD:0017102", "MEDGEN:340120", "OMIM:182980", "Orphanet:209335", "UMLS:C1854058"]}
{"category": ["biolink:Disease"], "description": "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.", "id": "MONDO:0008454", "name": "Spinal intradural arachnoid cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinal intradural arachnoid cysts"], "xref": ["GARD:0009701", "MEDGEN:83372", "MESH:C536878", "OMIM:182990", "UMLS:C0344485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008455", "name": "Spinal muscular atrophy, segmental", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinal muscular atrophy, segmental"], "xref": ["GARD:0024623", "MEDGEN:355801", "MESH:C566670", "OMIM:183020", "UMLS:C1866774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008456", "name": "Spinocerebellar ataxia with rigidity and peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spinocerebellar ataxia with rigidity and peripheral neuropathy"], "xref": ["MEDGEN:401079", "MESH:C566669", "OMIM:183050", "UMLS:C1866770"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.", "id": "MONDO:0008457", "name": "Spinocerebellar ataxia type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACNA1A autosomal dominant cerebellar ataxia type III", "SCA6", "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A", "spinocerebellar ataxia type 6"], "xref": ["DOID:0050956", "GARD:0010351", "MEDGEN:148458", "NANDO:1200042", "NCIT:C142838", "OMIM:183086", "Orphanet:98758", "SCTID:715752006", "UMLS:C0752124", "icd11.foundation:1056119281"]}
{"category": ["biolink:Disease"], "description": "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.", "id": "MONDO:0008458", "name": "Spinocerebellar ataxia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["ATXN2 autosomal dominant cerebellar ataxia type I", "OPCA2", "SCA2", "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2", "spinocerebellar ataxia type 2"], "xref": ["DOID:0050955", "DOID:0060204", "GARD:0004072", "MEDGEN:155704", "NANDO:1200046", "NCIT:C148315", "OMIM:183090", "Orphanet:98756", "SCTID:715751004", "UMLS:C0752121", "icd11.foundation:1232187870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008459", "name": "Spinocerebellar atrophy with pupillary paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spinocerebellar atrophy with pupillary paralysis"], "xref": ["MEDGEN:356608", "MESH:C566668", "OMIM:183100", "UMLS:C1866746"]}
{"category": ["biolink:Disease"], "description": "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.", "id": "MONDO:0008460", "name": "Splenogonadal fusion-limb defects-micrognathia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SGFLD syndrome"], "xref": ["GARD:0004963", "MEDGEN:401073", "MESH:C537318", "OMIM:183300", "Orphanet:2063", "SCTID:726724005", "UMLS:C1866745"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008461", "name": "Splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells"], "xref": ["MEDGEN:357126", "MESH:C566666", "OMIM:183350", "UMLS:C1866744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008462", "name": "Split lower lip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["split Lower type lip", "split lower lip"], "xref": ["MEDGEN:356607", "OMIM:183400", "UMLS:C1866743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008463", "name": "Split-hand and split-foot with hypodontia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["split-hand and split-foot with hypodontia"], "xref": ["MEDGEN:357125", "MESH:C566665", "OMIM:183500", "UMLS:C1866742"]}
{"category": ["biolink:Disease"], "description": "Split-hand/foot malformation mapped to chromosome 7q21.3", "id": "MONDO:0008464", "name": "Split hand-foot malformation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFD1", "SHFM1", "split hand-foot malformation type 1", "split hand/foot malformation 1", "split-hand/foot malformation type 1"], "xref": ["DECIPHER:46", "DOID:0090021", "GARD:0007685", "MEDGEN:419314", "NCIT:C75045", "OMIM:183600", "UMLS:C2931019"]}
{"category": ["biolink:Disease"], "description": "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.", "id": "MONDO:0008465", "name": "Patterson-stevenson-fontaine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Patterson-Stevenson syndrome", "Patterson-Stevenson-Fontaine syndrome", "split foot deformity-mandibulofacial dysostosis syndrome"], "xref": ["GARD:0004260", "MEDGEN:1808766", "OMIM:183700", "Orphanet:2439", "SCTID:724069009", "UMLS:C5574964"]}
{"category": ["biolink:Disease"], "description": "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.", "id": "MONDO:0008466", "name": "Karsch-neugebauer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Karsch-Neugebauer syndrome", "split hand/split foot-nystagmus syndrome"], "xref": ["GARD:0004967", "MEDGEN:401072", "MESH:C537319", "OMIM:183800", "Orphanet:2329", "SCTID:722032005", "UMLS:C1866740"]}
{"category": ["biolink:Disease"], "description": "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.", "id": "MONDO:0008467", "name": "Czeizel-losonci syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["split hand with obstructive uropathy, spina bifida and diaphragmatic defects", "split hand-urinary anomalies-spina bifida syndrome"], "xref": ["GARD:0004969", "MEDGEN:401071", "MESH:C566662", "OMIM:183802", "Orphanet:2437", "UMLS:C1866739"]}
{"category": ["biolink:Disease"], "description": "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.", "id": "MONDO:0008469", "name": "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010101", "MEDGEN:357120", "MESH:C535783", "OMIM:183849", "Orphanet:168443", "UMLS:C1866728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008470", "name": "Spondyloepiphyseal dysplasia with punctate corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia with punctate corneal dystrophy", "spondyloepiphyseal dysplasia, Byers type"], "xref": ["DOID:0112286", "GARD:0024624", "MEDGEN:357119", "MESH:C566660", "OMIM:183850", "Orphanet:163673", "UMLS:C1866727"]}
{"category": ["biolink:Disease"], "description": "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.", "id": "MONDO:0008471", "name": "Spondyloepiphyseal dysplasia congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SED congenita", "SEDC", "Spondyloepiphyseal Dysplasia, Congenital", "Spranger-Wiedemann disease", "spondyloepiphyseal dysplasia congenita", "spondyloepiphyseal dysplasia, congenital type"], "xref": ["DOID:14789", "GARD:0004987", "ICD9:756.9", "MEDGEN:412530", "MESH:C535788", "MedDRA:10062920", "NANDO:2201348", "NORD:1733", "OMIM:183900", "Orphanet:94068", "SCTID:278713008", "UMLS:C2745959"]}
{"category": ["biolink:Disease"], "description": "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.", "id": "MONDO:0008472", "name": "Spondyloepiphyseal dysplasia, macdermot type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome"], "xref": ["GARD:0016996", "MEDGEN:401067", "MESH:C566659", "OMIM:184000", "Orphanet:163668", "UMLS:C1866719", "icd11.foundation:800575171"]}
{"category": ["biolink:Disease"], "description": "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.", "id": "MONDO:0008473", "name": "Spondyloepimetaphyseal dysplasia, maroteaux type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SED, Maroteaux type", "pseudo-Morquio syndrome type 2", "spondyloepimetaphyseal dysplasia, Maroteaux type", "spondyloepiphyseal dysplasia Maroteaux type", "spondyloepiphyseal dysplasia, Maroteaux type"], "xref": ["DOID:0111553", "GARD:0000994", "MEDGEN:463613", "OMIM:184095", "Orphanet:263482", "SCTID:719204007", "UMLS:C3159322"]}
{"category": ["biolink:Disease"], "description": "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.", "id": "MONDO:0008474", "name": "Spondyloepiphyseal dysplasia tarda, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia tarda, autosomal dominant"], "xref": ["DOID:0112285", "GARD:0010624", "MEDGEN:355785", "MESH:C566658", "OMIM:184100", "UMLS:C1866717"]}
{"category": ["biolink:Disease"], "description": "A condition in which there is forward displacement of a vertebral bone over the on below it.", "id": "MONDO:0008475", "name": "Spondylolisthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spondylolisthesis", "spondylolisthesis (disease)"], "xref": ["DOID:6682", "EFO:0007493", "HP:0003302", "ICD10CM:M43.1", "MEDGEN:52470", "MESH:D013168", "NCIT:C35033", "OMIM:184200", "SCTID:274152003", "UMLS:C0038016", "icd11.foundation:1075039772"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).", "id": "MONDO:0008476", "name": "Spondyloepimetaphyseal dysplasia, strudwick type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondyloepimetaphyseal dysplasia, Strudwick type"], "xref": ["DOID:0080028", "GARD:0000134", "ICD9:758.89", "MEDGEN:147134", "NANDO:2201349", "OMIM:184250", "Orphanet:93346", "SCTID:702350003", "UMLS:C0700635"]}
{"category": ["biolink:Disease"], "description": "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.", "id": "MONDO:0008477", "name": "Spondylometaphyseal dysplasia, kozlowski type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia, Kozlowski type"], "xref": ["DOID:0111554", "GARD:0003047", "MEDGEN:82698", "MESH:C535797", "OMIM:184252", "Orphanet:93314", "UMLS:C0265280", "icd11.foundation:360868302"]}
{"category": ["biolink:Disease"], "description": "A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.", "id": "MONDO:0008478", "name": "Spondylometaphyseal dysplasia, schmidt type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia Algerian type", "spondylometaphyseal dysplasia Schmidt type", "spondylometaphyseal dysplasia with severe genu valgum", "spondylometaphyseal dysplasia, Algerian type", "spondylometaphyseal dysplasia, Schmidt type"], "xref": ["DOID:0112296", "GARD:0000504", "MEDGEN:356595", "MESH:C535794", "OMIM:184253", "Orphanet:93316", "SCTID:719304005", "UMLS:C1866688", "icd11.foundation:1092012084"]}
{"category": ["biolink:Disease"], "description": "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).", "id": "MONDO:0008479", "name": "Spondylometaphyseal dysplasia, 'corner fracture' type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia, Sutcliffe type"], "xref": ["DOID:0112297", "GARD:0004991", "MEDGEN:98146", "MESH:C535793", "OMIM:184255", "Orphanet:93315", "SCTID:254078005", "UMLS:C0432221", "icd11.foundation:1295452752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008481", "name": "Spondylosis, cervical", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spondylosis, cervical"], "xref": ["EFO:0009610", "MEDGEN:235174", "OMIM:184300", "SCTID:387800004", "UMLS:C1384641"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008482", "name": "Sprengel deformity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Sprengel deformity", "Sprengel deformity (disease)", "high scapula"], "xref": ["GARD:0007693", "HP:0000912", "MEDGEN:56291", "MESH:C535802", "MedDRA:10010455", "NORD:1736", "OMIM:184400", "Orphanet:3181", "SCTID:79120002", "UMLS:C0152438", "icd11.foundation:2144522441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008483", "name": "Stuttering, familial persistent, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["STUT1", "stuttering, familial persistent, 1"], "xref": ["MEDGEN:483580", "OMIM:184450", "UMLS:C3489627"]}
{"category": ["biolink:Disease"], "description": "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.", "id": "MONDO:0008484", "name": "Stapes ankylosis with broad thumbs and toes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Teunissen-Cremers syndrome"], "xref": ["GARD:0012631", "MEDGEN:357104", "OMIM:184460", "Orphanet:140917", "SCTID:719305006", "UMLS:C1866656", "icd11.foundation:387089262"]}
{"category": ["biolink:Disease"], "description": "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.", "id": "MONDO:0008485", "name": "Sebocystomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Steatocystoma multiplex"], "xref": ["DOID:0111556", "GARD:0005003", "ICD10CM:L72.2", "MEDGEN:75476", "OMIM:184500", "Orphanet:841", "SCTID:109433009", "UMLS:C0259771"]}
{"category": ["biolink:Disease"], "description": "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.", "id": "MONDO:0008486", "name": "Steatocystoma multiplex-natal teeth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005004", "MEDGEN:356586", "MESH:C537487", "OMIM:184510", "Orphanet:3184", "UMLS:C1866650"]}
{"category": ["biolink:Disease"], "description": "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.", "id": "MONDO:0008487", "name": "Polycystic ovary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PCOS", "Stein-Leventhal syndrome", "polycystic ovarian disease", "polycystic ovaries", "polycystic ovary syndrome"], "xref": ["DOID:11612", "EFO:0000660", "ICD10CM:E28.2", "ICD9:256.4", "MEDGEN:10836", "MESH:D011085", "NANDO:2100149", "NANDO:2200409", "NCIT:C26862", "OMIM:184700", "Orphanet:3185", "SCTID:69878008", "UMLS:C0032460", "icd11.foundation:1213633323"]}
{"category": ["biolink:Disease"], "description": "Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.", "id": "MONDO:0008488", "name": "Holoprosencephaly-radial heart renal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Steinfeld syndrome"], "xref": ["GARD:0002727", "MEDGEN:401047", "MESH:C566655", "OMIM:184705", "Orphanet:3186", "SCTID:716233007", "UMLS:C1866649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008489", "name": "Sternum, premature obliteration of sutures of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sternum, premature obliteration of sutures of"], "xref": ["MEDGEN:396144", "OMIM:184800", "UMLS:C1861485"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.", "id": "MONDO:0008490", "name": "Otospondylomegaepiphyseal dysplasia, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COL11A2 Stickler syndrome", "OSMED, Heterozygous", "OSMED, heterozygous", "OSMEDA", "Pierre Robin sequence-fetal chondrodysplasia syndrome", "Pierre Robin syndrome with fetal chondrodysplasia", "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type", "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "Pierre Robin syndrome with foetal chondrodysplasia", "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type", "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "Pierre Robin syndrome-fetal chondrodysplasia syndrome", "STICKLER syndrome, type III", "STL3", "Stickler syndrome caused by mutation in COL11A2", "Stickler syndrome, non-ocular type", "Stickler syndrome, type 3", "Stickler syndrome, type III, formerly", "WZS", "Weissenbacher-Zweymuller syndrome", "heterozygous OSMED", "heterozygous otospondylomegaepiphyseal dysplasia", "otospondylomegaepiphyseal dysplasia, autosomal dominant"], "xref": ["DOID:0080677", "DOID:4258", "GARD:0005021", "MEDGEN:341234", "MESH:C535776", "MESH:C537494", "NORD:1533", "OMIM:184840", "OMIM:277610", "Orphanet:166100", "Orphanet:3450", "SCTID:699313003", "UMLS:C1848488"]}
{"category": ["biolink:Disease"], "description": "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.", "id": "MONDO:0008491", "name": "Stiff-person syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moersch-Woltman syndrome", "Stiff Person Syndrome", "Stiff Person syndrome", "Stiff-man syndrome", "stiff-person syndrome"], "xref": ["DOID:13366", "EFO:0007498", "GARD:0005023", "ICD10CM:G25.82", "ICD9:333.91", "MEDGEN:39017", "MESH:D016750", "MedDRA:10042044", "NCIT:C85170", "NORD:1740", "OMIM:184850", "Orphanet:3198", "SCTID:5217008", "UMLS:C0085292"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.", "id": "MONDO:0008492", "name": "Stiff skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["stiff skin syndrome"], "xref": ["DOID:0111561", "GARD:0005025", "MEDGEN:348877", "MESH:C566112", "NCIT:C118636", "OMIM:184900", "Orphanet:2833", "SCTID:765187004", "UMLS:C1861456", "icd11.foundation:642409035"]}
{"category": ["biolink:Disease"], "description": "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.", "id": "MONDO:0008493", "name": "Overhydrated hereditary stomatocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["overhydrated hereditary stomatocytosis"], "xref": ["DOID:0111562", "GARD:0004183", "MEDGEN:348876", "MESH:C566111", "OMIM:185000", "Orphanet:3203", "SCTID:722125003", "UMLS:C1861455", "icd11.foundation:595647587"]}
{"category": ["biolink:Disease"], "description": "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.", "id": "MONDO:0008494", "name": "Cryohydrocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHC", "cryohydrocytosis", "hereditary cryohydrocytosis with normal stomatin", "stomatocytosis, cold-sensitive"], "xref": ["GARD:0010184", "MEDGEN:396137", "MESH:C535827", "OMIM:185020", "Orphanet:398088", "UMLS:C1861453"]}
{"category": ["biolink:Disease"], "description": "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.", "id": "MONDO:0008495", "name": "Platelet storage pool deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alpha dense granule deficiency", "combined alpha-delta platelet storage pool deficiency"], "xref": ["DOID:2223", "EFO:1001112", "GARD:0005034", "MEDGEN:19351", "MESH:D010981", "OMIM:185050", "Orphanet:734", "SCTID:234474009", "UMLS:C0032197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008496", "name": "Storm syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["storm syndrome"], "xref": ["MEDGEN:350029", "MESH:C566109", "OMIM:185069", "UMLS:C1861452"]}
{"category": ["biolink:Disease"], "description": "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.", "id": "MONDO:0008497", "name": "Stormorken syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stormorken syndrome", "Thrombocytopathy-asplenia-miosis syndrome"], "xref": ["DOID:0060354", "GARD:0005188", "ICD9:759.89", "MEDGEN:350028", "MESH:C566108", "OMIM:185070", "Orphanet:3204", "SCTID:711407000", "UMLS:C1861451"]}
{"category": ["biolink:Disease"], "description": "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.", "id": "MONDO:0008499", "name": "Short stature-wormian bones-dextrocardia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stratton-Parker syndrome"], "xref": ["GARD:0004856", "MEDGEN:350025", "MESH:C566105", "OMIM:185120", "Orphanet:2863", "SCTID:763631006", "UMLS:C1861448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008500", "name": "Striae distensae, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["striae distensae, familial"], "xref": ["MEDGEN:348875", "MESH:C566104", "OMIM:185200", "UMLS:C1861447"]}
{"category": ["biolink:Disease"], "description": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.", "id": "MONDO:0008501", "name": "Sturge-weber syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SWS", "Sturge Weber Syndrome", "Sturge Weber syndrome", "Sturge-Weber disease", "Sturge-Weber syndrome", "Sturge-Weber syndrome, somatic, mosaic", "Sturge-Weber-Dimitri syndrome", "Sturge-Weber-Krabbe angiomatosis", "Sturge-Weber-Krabbe syndrome", "encephalofacial angiomatosis", "encephalotrigeminal angiomatosis", "encephalotrigeminal syndrome"], "xref": ["DOID:0111563", "GARD:0007706", "ICD9:759.6", "MEDGEN:21361", "MESH:D013341", "MedDRA:10042265", "MedDRA:10057653", "NANDO:1200606", "NANDO:2200830", "NCIT:C3391", "NORD:1741", "OMIM:185300", "Orphanet:3205", "SCTID:19886006", "UMLS:C0038505", "icd11.foundation:1173035836"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008502", "name": "Sulfhemoglobinemia, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["sulfhemoglobinemia, congenital"], "xref": ["GARD:0024625", "MEDGEN:350024", "MESH:C566102", "OMIM:185460", "UMLS:C1861437"]}
{"category": ["biolink:Disease"], "description": "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.", "id": "MONDO:0008503", "name": "Worster-drought syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Worster-Drought syndrome", "congenital suprabulbar paresis"], "xref": ["GARD:0005598", "MEDGEN:163228", "MESH:C536747", "NANDO:1200558", "OMIM:185480", "Orphanet:3465", "SCTID:716335003", "UMLS:C0796204", "icd11.foundation:1834138618"]}
{"category": ["biolink:Disease"], "description": "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.", "id": "MONDO:0008504", "name": "Supravalvular aortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SVAS", "supravalvar aortic stenosis", "supravalvular aortic stenosis", "supravalvular aortic stenosis (disease)"], "xref": ["DOID:1929", "GARD:0000743", "HP:0004381", "ICD10CM:Q25.3", "MEDGEN:2001", "MedDRA:10042598", "NANDO:2200285", "NCIT:C85176", "OMIM:185500", "Orphanet:3193", "SCTID:268185002", "UMLS:C0003499", "icd11.foundation:1066595728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008505", "name": "Surface antigen, glycoprotein 75", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["surface antigen, glycoprotein 75", "surface antigen, glycoprotein type 75"], "xref": ["MEDGEN:396130", "OMIM:185540", "UMLS:C1861423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008506", "name": "Symphalangism of toes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["symphalangism of toes"], "xref": ["MEDGEN:396129", "MESH:C566101", "OMIM:185600", "UMLS:C1861418"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008507", "name": "Surface polypeptides, anonymous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["surface polypeptides, anonymous"], "xref": ["MEDGEN:348354", "OMIM:185610", "UMLS:C1861417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008508", "name": "Symphalangism, c. s. lewis type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["symphalangism, C. S. Lewis type"], "xref": ["MEDGEN:396126", "MESH:C566100", "OMIM:185650", "UMLS:C1861404"]}
{"category": ["biolink:Disease"], "description": "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.", "id": "MONDO:0008509", "name": "Distal symphalangism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal symphalangism", "distal symphalangism (disease)"], "xref": ["GARD:0005074", "HP:0100263", "MEDGEN:350018", "MESH:C566099", "OMIM:185700", "Orphanet:3248", "UMLS:C1861401", "icd11.foundation:1737945585"]}
{"category": ["biolink:Disease"], "description": "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.", "id": "MONDO:0008510", "name": "Symphalangism with multiple anomalies of hands and feet", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Learman syndrome", "symphalangism with multiple anomalies of hands and feet"], "xref": ["GARD:0005077", "MEDGEN:348859", "MESH:C566098", "OMIM:185750", "Orphanet:3246", "SCTID:732955001", "UMLS:C1861391"]}
{"category": ["biolink:Disease"], "description": "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.", "id": "MONDO:0008511", "name": "Proximal symphalangism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["proximal symphalangism", "proximal symphalangism (disease)", "symphalangism, Cushing type"], "xref": ["DOID:0050788", "GARD:0008182", "HP:0100264", "MEDGEN:348856", "MESH:C536223", "OMIMPS:185800", "Orphanet:3250", "UMLS:C1861385", "icd11.foundation:49802338"]}
{"category": ["biolink:Disease"], "description": "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.", "id": "MONDO:0008512", "name": "Syndactyly type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111816", "GARD:0005081", "MEDGEN:348343", "OMIM:185900", "Orphanet:93402", "SCTID:715723008", "UMLS:C1861380", "icd11.foundation:1841508645"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.", "id": "MONDO:0008513", "name": "Synpolydactyly type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HOXD13 non-syndromic synpolydactyly", "SD2, Vordingborg type", "SD2a", "SPD, Vordingborg type", "SPD1", "non-syndromic synpolydactyly caused by mutation in HOXD13", "synpolydactyly type 1", "synpolydactyly, Vordingborg type"], "xref": ["GARD:0017358", "MEDGEN:1809573", "OMIM:186000", "Orphanet:295195", "UMLS:C5574994", "icd11.foundation:1701170393"]}
{"category": ["biolink:Disease"], "description": "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.", "id": "MONDO:0008514", "name": "Syndactyly type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GJA1 non-syndromic syndactyly", "SD3", "non-syndromic syndactyly caused by mutation in GJA1", "syndactyly of fingers 4 and 5"], "xref": ["DOID:0111817", "GARD:0005088", "MEDGEN:396117", "MESH:C538154", "OMIM:186100", "Orphanet:93404", "SCTID:715725001", "UMLS:C1861366", "icd11.foundation:144846004"]}
{"category": ["biolink:Disease"], "description": "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).", "id": "MONDO:0008515", "name": "Syndactyly type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMBR1 non-syndromic syndactyly", "non-syndromic syndactyly caused by mutation in LMBR1", "polysyndactyly, Haas type"], "xref": ["DOID:0111818", "GARD:0004434", "MEDGEN:350013", "MESH:C566092", "OMIM:186200", "Orphanet:93405", "SCTID:719158007", "UMLS:C1861355", "icd11.foundation:75755208"]}
{"category": ["biolink:Disease"], "description": "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.", "id": "MONDO:0008516", "name": "Syndactyly type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SD5", "postaxial syndactyly with metacarpal synostosis"], "xref": ["DOID:0111819", "GARD:0005089", "MEDGEN:350010", "MESH:C538155", "OMIM:186300", "Orphanet:93406", "SCTID:719159004", "UMLS:C1861348", "icd11.foundation:283224140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008517", "name": "Syndactyly-polydactyly-ear lobe syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005090", "MEDGEN:348333", "MESH:C566091", "OMIM:186350", "Orphanet:3259", "UMLS:C1861347"]}
{"category": ["biolink:Disease"], "description": "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.", "id": "MONDO:0008518", "name": "Calcaneonavicular coalition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["calcaneonavicular coalition"], "xref": ["DOID:14762", "GARD:0009863", "ICD9:755.8", "MEDGEN:360296", "MESH:C538156", "OMIM:186400", "SCTID:62628008", "UMLS:C1876184"]}
{"category": ["biolink:Disease"], "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.", "id": "MONDO:0008519", "name": "Multiple synostoses syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NOG multiple synostoses syndrome", "multiple synostoses syndrome 1", "multiple synostoses syndrome caused by mutation in NOG", "multiple synostoses syndrome caused by mutation in nog", "multiple synostoses syndrome type 1", "nog multiple synostoses syndrome"], "xref": ["DOID:0081317", "GARD:0015115", "MEDGEN:90977", "OMIM:186500", "UMLS:C0342282"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.", "id": "MONDO:0008520", "name": "Brachydactyly-elbow wrist dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Liebenberg syndrome", "brachydactyly-joint dysplasia syndrome"], "xref": ["GARD:0000966", "MEDGEN:396103", "MESH:C566090", "OMIM:186550", "Orphanet:1275", "SCTID:764437006", "UMLS:C1861313"]}
{"category": ["biolink:Disease"], "description": "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.", "id": "MONDO:0008521", "name": "Tarsal-carpal coalition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tarsal-carpal coalition syndrome"], "xref": ["DOID:0050789", "GARD:0009225", "ICD9:756.9", "MEDGEN:348322", "OMIM:186570", "Orphanet:1412", "SCTID:702312009", "UMLS:C1861305", "icd11.foundation:1118132902"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008522", "name": "Synovial chondromatosis, familial, with dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["synovial chondromatosis, familial, with dwarfism"], "xref": ["MEDGEN:348836", "MESH:C566087", "OMIM:186575", "UMLS:C1861304"]}
{"category": ["biolink:Disease"], "description": "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.", "id": "MONDO:0008523", "name": "Blau syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BLAUS", "Blau syndrome", "EOS", "Jabs syndrome", "arthrocutaneouveal granulomatosis", "early-onset sarcoidosis", "granulomatosis, familial juvenile systemic", "granulomatosis, familial, Blau type", "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", "paediatric granulomatous arthritis", "pediatric granulomatous arthritis", "sarcoidosis, early-onset"], "xref": ["DOID:0050678", "GARD:0000304", "ICD9:692.9", "ICD9:714.89", "MEDGEN:1684759", "MESH:C538157", "MedDRA:10071755", "NANDO:1200476", "NANDO:2200434", "NCIT:C116794", "OMIM:186580", "OMIM:609464", "Orphanet:90340", "Orphanet:90341", "SCTID:699861000", "UMLS:C5201146", "icd11.foundation:382488319"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008524", "name": "Syringomas, multiple", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["syringomas, multiple"], "xref": ["MEDGEN:348321", "MESH:C566085", "OMIM:186600", "UMLS:C1861302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008525", "name": "Syringomyelia, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["syringomyelia, isolated"], "xref": ["GARD:0024626", "MEDGEN:1622554", "MESH:C566084", "OMIM:186700", "UMLS:C4538540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008526", "name": "Talonavicular coalition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["talonavicular coalition"], "xref": ["MEDGEN:350002", "MESH:C536895", "OMIM:186750", "UMLS:C1861296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008527", "name": "Tarsal coalition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tarsal coalition"], "xref": ["ICD9:755.67", "MEDGEN:539393", "MESH:D000070604", "OMIM:186850", "SCTID:27173008", "UMLS:C0265654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008528", "name": "Tear protein, anodal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tear protein, anodal"], "xref": ["MEDGEN:348829", "OMIM:186890", "UMLS:C1861283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008529", "name": "T-cell subgroups, non-hla-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["T-cell Subgroups, non-HLA-linked"], "xref": ["MEDGEN:348312", "OMIM:186950", "UMLS:C1861277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008530", "name": "Teeth, odd shapes of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["teeth, odd shapes of"], "xref": ["MEDGEN:396097", "MESH:C566076", "OMIM:187000", "UMLS:C1861274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008532", "name": "Teeth present at birth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["teeth present at birth", "teeth present at birth (disease)"], "xref": ["HP:0000695", "MEDGEN:10268", "OMIM:187050", "SCTID:21995002", "UMLS:C0027443"]}
{"category": ["biolink:Disease"], "description": "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.", "id": "MONDO:0008533", "name": "Teeth, supernumerary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["teeth, supernumerary"], "xref": ["ICD10CM:K00.1", "MEDGEN:21210", "MESH:D014096", "OMIM:187100", "SCTID:8666004", "UMLS:C0040457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008534", "name": "Generalized essential telangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GET"], "xref": ["GARD:0021087", "MEDGEN:140803", "OMIM:187260", "Orphanet:280774", "SCTID:238763007", "UMLS:C0406502", "icd11.foundation:236046211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008535", "name": "Telangiectasia, hereditary hemorrhagic, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHT1", "hereditary hemorrhagic telangiectasia type 1", "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber", "telangiectasia, hereditary hemorrhagic, type 1"], "xref": ["GARD:0024627", "GTR:AN0097748", "GTR:AN0097750", "GTR:AN0097757", "GTR:AN0195329", "MEDGEN:1643786", "OMIM:187300", "UMLS:C4551861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008536", "name": "Temperature-sensitive lethal mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["temperature-sensitive lethal mutation"], "xref": ["MEDGEN:396088", "OMIM:187340", "UMLS:C1861242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008537", "name": "Telecanthus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["telecanthus"], "xref": ["GARD:0019505", "MEDGEN:140836", "MESH:C562941", "OMIM:187350", "Orphanet:98575", "UMLS:C0423113", "icd11.foundation:210416501"]}
{"category": ["biolink:Disease"], "description": "A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.", "id": "MONDO:0008538", "name": "Temporal arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Giant Cell Arteritis", "Horton disease", "giant cell arteritis", "inflammation of temporal artery", "temporal arteritis", "temporal artery inflammation"], "xref": ["DOID:13375", "EFO:1001209", "GARD:0009615", "ICD9:446.5", "MEDGEN:365495", "MedDRA:10018250", "MedDRA:10043207", "NANDO:1200258", "NANDO:1200259", "NANDO:1200260", "NCIT:C35065", "NORD:805", "OMIM:187360", "Orphanet:397", "SCTID:400130008", "UMLS:C1956391", "icd11.foundation:1929970386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008540", "name": "Extensor tendons of finger anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hapnes-Boman-Skeie syndrome"], "xref": ["GARD:0002597", "MEDGEN:348302", "MESH:C566068", "OMIM:187390", "Orphanet:3294", "UMLS:C1861237"]}
{"category": ["biolink:Disease"], "description": "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.", "id": "MONDO:0008541", "name": "Spermatic cord torsion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testicular torsion", "torsion of testis"], "xref": ["DOID:11996", "ICD10CM:N44.0", "ICD9:608.2", "ICD9:608.20", "MEDGEN:52446", "MESH:D013086", "NCIT:C26885", "OMIM:187400", "SCTID:81996005", "UMLS:C0037856"]}
{"category": ["biolink:Disease"], "description": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.", "id": "MONDO:0008542", "name": "Tetralogy of fallot", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["tetralogy of fallot", "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle"], "xref": ["DOID:6419", "GARD:0002245", "ICD10CM:Q21.3", "ICD9:745.2", "MEDGEN:21498", "MESH:D013771", "MedDRA:10016193", "NANDO:1200709", "NANDO:2100075", "NANDO:2200254", "NCIT:C84505", "NORD:1764", "OMIM:187500", "Orphanet:3303", "SCTID:86299006", "UMLS:C0039685", "icd11.foundation:90973426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008543", "name": "Tetralogy of fallot and glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tetralogy of fallot and glaucoma"], "xref": ["MEDGEN:396086", "MESH:C536501", "OMIM:187501", "UMLS:C1861234"]}
{"category": ["biolink:Disease"], "description": "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0008544", "name": "Tetramelic monodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sommer-Hines syndrome", "tetramelic monodactyly"], "xref": ["GARD:0003707", "MEDGEN:349989", "MESH:C566066", "OMIM:187510", "Orphanet:2564", "UMLS:C1861233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008545", "name": "Thalassemia, beta+, silent allele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thalassemia, beta+, silent allele"], "xref": ["GARD:0024628", "MEDGEN:349988", "MESH:C566065", "OMIM:187550", "UMLS:C1861232"]}
{"category": ["biolink:Disease"], "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.", "id": "MONDO:0008546", "name": "Thanatophoric dysplasia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["TD1", "thanatophoric dwarfism type 1", "thanatophoric dysplasia, type 1", "type 1 thanatophoric dysplasia"], "xref": ["GARD:0009295", "MEDGEN:358383", "NANDO:1200875", "NCIT:C98583", "OMIM:187600", "OMIM:270230", "Orphanet:1860", "UMLS:C1868678"]}
{"category": ["biolink:Disease"], "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.", "id": "MONDO:0008547", "name": "Thanatophoric dysplasia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["TD2", "cloverleaf skull-micromelic bone dysplasia syndrome", "thanatophoric dwarfism type 2", "thanatophoric dwarfism-cloverleaf skull syndrome", "thanatophoric dysplasia, type 2", "type 2 thanatophoric dysplasia"], "xref": ["GARD:0001402", "ICD9:742.59", "MEDGEN:226975", "MESH:C536508", "NANDO:1200876", "NCIT:C98584", "OMIM:187601", "Orphanet:93274", "SCTID:389158007", "UMLS:C1300257"]}
{"category": ["biolink:Disease"], "description": "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.", "id": "MONDO:0008551", "name": "Thoracolaryngopelvic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Barnes syndrome", "thoracolaryngopelvic dysplasia", "thoracopelvic dysostosis"], "xref": ["GARD:0005184", "MEDGEN:349978", "MESH:C536517", "OMIM:187760", "OMIM:187770", "Orphanet:3317", "SCTID:723556008", "UMLS:C1861197", "icd11.foundation:337990406"]}
{"category": ["biolink:Disease"], "description": "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.", "id": "MONDO:0008552", "name": "Platelet-type bleeding disorder 16", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bleeding disorder, platelet-type, 16, autosomal dominant", "platelet-type bleeding disorder 16"], "xref": ["DOID:0060691", "GARD:0024629", "MEDGEN:1781222", "MESH:C566061", "OMIM:187800", "UMLS:C5442010"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.", "id": "MONDO:0008553", "name": "Platelet-type bleeding disorder 17", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT17", "GFI1B inherited bleeding disorder, platelet-type", "bleeding disorder, platelet-type 17", "inherited bleeding disorder, platelet-type caused by mutation in GFI1B", "platelet-type bleeding disorder 17"], "xref": ["DOID:0111049", "GARD:0015117", "MEDGEN:396078", "MESH:C566060", "NCIT:C142084", "OMIM:187900", "UMLS:C1861194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008554", "name": "Thrombocythemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombocythemia 1", "thrombocythemia type 1", "thrombocythemia, somatic"], "xref": ["GARD:0024630", "MEDGEN:479301", "OMIM:187950", "UMLS:C3277671"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.", "id": "MONDO:0008555", "name": "Thrombocytopenia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombocytopenia 2", "thrombocytopenia type 2"], "xref": ["GARD:0005191", "MEDGEN:349976", "MESH:C536519", "NANDO:2200663", "NCIT:C129035", "OMIM:188000", "UMLS:C1861185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008556", "name": "Thrombocytopenia, cyclic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombocytopenia, cyclic"], "xref": ["GARD:0009862", "ICD9:287.39", "MEDGEN:78799", "MESH:C536899", "NANDO:2100192", "NANDO:2200653", "OMIM:188020", "SCTID:48788004", "UMLS:C0272282"]}
{"category": ["biolink:Disease"], "description": "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.", "id": "MONDO:0008557", "name": "Paris-trousseau thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thrombocytopenia, Paris-Trousseau type, Isolated cases"], "xref": ["GARD:0004224", "MEDGEN:365037", "OMIM:188025", "Orphanet:851", "UMLS:C1956093", "icd11.foundation:1441183910"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.", "id": "MONDO:0008558", "name": "Autoimmune thrombocytopenic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ITP", "autoimmune thrombocytopenic purpura", "idiopathic thrombocytopenia", "idiopathic thrombocytopenia purpura", "idiopathic thrombocytopenic purpura", "thrombocytopenic purpura, autoimmune"], "xref": ["DOID:8924", "EFO:0007160", "GARD:0005194", "ICD10CM:D69.3", "ICD9:287.31", "MEDGEN:584986", "MedDRA:10021245", "NANDO:1200315", "NANDO:2200645", "NCIT:C3446", "OMIM:188030", "Orphanet:3002", "UMLS:C0398650", "icd11.foundation:364346400"]}
{"category": ["biolink:Disease"], "description": "The formation of a blood clot (thrombus) in the lumen of a vein.", "id": "MONDO:0008559", "name": "Thrombophilia due to thrombin defect", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["prothrombin thrombophilia", "prothrombin-related thrombophilia", "thrombophilia 1 due to thrombin defect", "thrombophilia due to thrombin defect", "venous thromboembolism, susceptibility to", "venous thrombosis, protection against"], "xref": ["DOID:0080701", "DOID:0111907", "GARD:0010815", "ICD9:453.9", "MEDGEN:463623", "OMIM:188050", "SCTID:111293003", "UMLS:C3160733"]}
{"category": ["biolink:Disease"], "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.", "id": "MONDO:0008560", "name": "Thrombophilia due to activated protein c resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["thrombophilia 2 due to activated protein C resistance", "thrombophilia due to activated protein C resistance"], "xref": ["DOID:0111902", "GARD:0024631", "ICD9:289.81", "MEDGEN:396074", "MESH:D020016", "OMIM:188055", "SCTID:421527008", "UMLS:C1861171"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008561", "name": "Thumb deformity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thumb deformity", "thumb deformity (disease)"], "xref": ["HP:0001172", "MEDGEN:107901", "MESH:C536903", "OMIM:188100", "UMLS:C0575897"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0008562", "name": "Thumb deformity-alopecia-pigmentation anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thumb deformity and alopecia"], "xref": ["GARD:0005199", "MEDGEN:348284", "MESH:C566054", "OMIM:188150", "Orphanet:2251", "Orphanet:79132", "UMLS:C1861168"]}
{"category": ["biolink:Disease"], "description": "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.", "id": "MONDO:0008563", "name": "Thumb stiffness-brachydactyly-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Piussan-Lenaerts-Mathieu syndrome"], "xref": ["GARD:0004375", "MEDGEN:396073", "OMIM:188201", "Orphanet:1078", "UMLS:C1861166"]}
{"category": ["biolink:Disease"], "description": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.", "id": "MONDO:0008564", "name": "Digeorge syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DGS", "DGS1", "Di-George syndrome", "DiGeorge anomaly", "DiGeorge syndrome", "DiGeorge syndrome type 1", "DiGeorge's syndrome", "pharyngeal pouch syndrome"], "xref": ["DOID:11198", "GARD:0015118", "GTR:AN1145678", "ICD10CM:D82.1", "ICD9:279.11", "MEDGEN:4297", "MESH:D004062", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NCIT:C2989", "OMIM:188400", "SCTID:77128003", "UMLS:C0012236"]}
{"category": ["biolink:Disease"], "description": "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.", "id": "MONDO:0008565", "name": "Familial thyroglossal duct cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary thyroglossal duct cyst"], "xref": ["GARD:0005204", "MEDGEN:501211", "MESH:C536909", "OMIM:188455", "Orphanet:93953", "SCTID:717331000", "UMLS:C3495590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008566", "name": "Thyroid cancer, nonmedullary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["thyroid cancer, nonmedullary, 2", "thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation", "thyroid cancer, nonmedullary, type 2", "thyroid carcinoma, follicular, autosomal dominant, somatic mutation", "thyroid carcinoma, follicular, somatic"], "xref": ["GARD:0005206", "MEDGEN:904175", "MESH:C572845", "OMIM:188470", "UMLS:C4225426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008567", "name": "Thyroid cancer, nonmedullary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["thyroid cancer, nonmedullary, 1", "thyroid cancer, nonmedullary, type 1"], "xref": ["GARD:0024632", "MEDGEN:1648293", "OMIM:188550", "UMLS:C4721429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008568", "name": "Thyroid hormone plasma membrane transport defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport defect", "thyroid hormone plasma membrane transport defect", "thyroid hormone resistance due to T4 plasma Membrane transport defect"], "xref": ["MEDGEN:396060", "MESH:C536916", "OMIM:188560", "UMLS:C1861101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008569", "name": "Thyroid hormone resistance, generalized, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["thyroid hormone resistance, generalized, autosomal dominant"], "xref": ["GARD:0024633", "MEDGEN:424846", "MESH:C567934", "OMIM:188570", "UMLS:C2937288"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008571", "name": "Blount disease, infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Blount disease, infantile"], "xref": ["GARD:0015120", "MEDGEN:65091", "OMIM:188700", "UMLS:C0220757"]}
{"category": ["biolink:Disease"], "description": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.", "id": "MONDO:0008572", "name": "Tibia, hypoplasia or aplasia of, with polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["absent tibia-polydactyly syndrome", "hypoplastic tibiae-postaxial polydactyly syndrome", "tibia, hypoplasia or aplasia of, with polydactyly"], "xref": ["DOID:0111564", "GARD:0008309", "MEDGEN:348786", "MESH:C535564", "MESH:C566046", "OMIM:188740", "Orphanet:3332", "Orphanet:988", "SCTID:716741008", "UMLS:C1861098"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008573", "name": "Tibial torsion, bilateral medial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tibial torsion, bilateral medial"], "xref": ["MEDGEN:348785", "MESH:C566045", "OMIM:188800", "UMLS:C1861097"]}
{"category": ["biolink:Disease"], "description": "Physical and psychological dependence on nicotine.", "id": "MONDO:0008575", "name": "Nicotine dependence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nicotine addiction"], "xref": ["DOID:0050742", "EFO:0003768", "ICD10CM:F17", "ICD10CM:F17.2", "ICD9:305.1", "MEDGEN:45086", "MESH:D014029", "NCIT:C54203", "SCTID:56294008", "UMLS:C0028043", "icd11.foundation:1699574100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008576", "name": "Toe, fifth, number of phalanges 1n", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["toe, fifth, number of phalanges type 1N"], "xref": ["MEDGEN:348255", "OMIM:189000", "UMLS:C1861062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008577", "name": "Toe, misshapen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["toe, misshapen"], "xref": ["MEDGEN:396052", "OMIM:189100", "UMLS:C1861061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008578", "name": "Toe, rotated fifth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["toe, rotated fifth"], "xref": ["MEDGEN:348254", "OMIM:189150", "UMLS:C1861060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008579", "name": "Toes, relative length of first and second", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["toes, relative length of first and second"], "xref": ["MEDGEN:396051", "OMIM:189200", "UMLS:C1861059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008580", "name": "Toes, space between first and second", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["toes, space between first and second"], "xref": ["MEDGEN:348253", "OMIM:189230", "UMLS:C1861058"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008581", "name": "Malposition of teeth with or without hypodontia/oligodontia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malposition of teeth with or without hypodontia/oligodontia"], "xref": ["MEDGEN:442888", "OMIM:189490", "UMLS:C2752157"]}
{"category": ["biolink:Disease"], "description": "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.", "id": "MONDO:0008582", "name": "Tooth and nail syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HND", "Witkop syndrome", "hypodontia and nail dysplasia", "hypodontia with nail dysplasia", "hypodontia-nail dysgenesis syndrome", "hypodontia-nail dysplasia", "hypoplastic enamel-onycholysis-hypohidrosis syndrome", "tooth and nail syndrome"], "xref": ["DOID:6678", "GARD:0005587", "MEDGEN:140809", "MESH:C536736", "NCIT:C40553", "NORD:1777", "OMIM:189500", "Orphanet:2228", "SCTID:400036004", "UMLS:C0406735"]}
{"category": ["biolink:Disease"], "description": "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.", "id": "MONDO:0008583", "name": "Inherited torticollis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital torticollis", "fibromatosis colli", "inherited torticollis (disease)", "torticollis"], "xref": ["GARD:0004908", "HP:0000473", "ICD9:723.5", "MEDGEN:11859", "MESH:C535425", "NCIT:C4811", "OMIM:189600", "SCTID:268240006", "SCTID:70070008", "UMLS:C0040485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008584", "name": "Torus palatinus and torus mandibularis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["torus palatinus and torus mandibularis"], "xref": ["MEDGEN:349942", "MESH:C566043", "OMIM:189700", "UMLS:C1861044"]}
{"category": ["biolink:Disease"], "description": "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.", "id": "MONDO:0008585", "name": "Hellp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemolysis, elevated liver enzymes, low platelets in pregnancy", "hemolysis-elevated liver enzymes-low platelet count syndrome", "hemolysis-elevated liver enzymes-low platelets syndrome"], "xref": ["DOID:13133", "EFO:0007297", "GARD:0008528", "ICD10CM:O14.2", "MEDGEN:58162", "MESH:D017359", "MedDRA:10049058", "NCIT:C84750", "Orphanet:244242", "UMLS:C0162739", "icd11.foundation:1748922908"]}
{"category": ["biolink:Disease"], "description": "A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.", "id": "MONDO:0008586", "name": "Esophageal atresia/tracheoesophageal fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Esophageal Atresia and/or Tracheoesophageal Fistula"], "xref": ["DOID:0080171", "GARD:0006381", "MEDGEN:21228", "MESH:C531835", "MedDRA:10021530", "MedDRA:10030146", "NORD:1108", "OMIM:189960", "Orphanet:1199", "SCTID:95435007", "UMLS:C0040588", "icd11.foundation:1582061097"]}
{"category": ["biolink:Disease"], "description": "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.", "id": "MONDO:0008587", "name": "Tracheobronchopathia osteochondroplastica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["tracheobronchopathia osteochondroplastica", "tracheopathia osteoplastica"], "xref": ["GARD:0005235", "MEDGEN:854438", "MESH:C536977", "OMIM:189961", "Orphanet:3348", "SCTID:54675009", "UMLS:C3887588", "icd11.foundation:1797446244"]}
{"category": ["biolink:Disease"], "description": "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.", "id": "MONDO:0008588", "name": "Hereditary geniospasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial trembling of the chin", "hereditary chin myoclonus", "hereditary chin-trembling"], "xref": ["GARD:0009501", "MEDGEN:348757", "MESH:C537682", "OMIM:190100", "Orphanet:53372", "SCTID:718103001", "UMLS:C1860972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008589", "name": "Tremor of intention, ataxia, and lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tremor of intention, ataxia, and lipofuscinosis"], "xref": ["MEDGEN:396002", "MESH:C566038", "OMIM:190200", "UMLS:C1860872"]}
{"category": ["biolink:Disease"], "description": "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.", "id": "MONDO:0008590", "name": "Tremor, hereditary essential, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["DRD3 essential tremor", "essential tremor caused by mutation in DRD3", "essential tremor, hereditary, 1", "tremor, hereditary essential, 1", "tremor, hereditary essential, type 1"], "xref": ["DOID:0111428", "MEDGEN:349909", "MESH:C536545", "OMIM:190300", "UMLS:C1860861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008591", "name": "Tremor-nystagmus-duodenal ulcer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Neuhauser-Daly-Magnelli syndrome"], "xref": ["GARD:0003948", "MEDGEN:349908", "MESH:C536406", "OMIM:190310", "Orphanet:3350", "UMLS:C1860860"]}
{"category": ["biolink:Disease"], "description": "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.", "id": "MONDO:0008592", "name": "Tricho-dento-osseous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TDO", "TDO syndrome", "TRICHODENTOOSSEOUS syndrome", "Tricho Dento Osseous Syndrome"], "xref": ["DOID:0111565", "GARD:0007799", "ICD9:759.89", "MEDGEN:78555", "MESH:C536549", "NORD:1786", "OMIM:190320", "Orphanet:3352", "SCTID:38993008", "UMLS:C0265333", "icd11.foundation:131993435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008593", "name": "Trichomegaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["trichomegaly"], "xref": ["MEDGEN:163139", "OMIM:190330", "UMLS:C0854699"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.", "id": "MONDO:0008594", "name": "Familial multiple discoid fibromas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FMDF"], "xref": ["GARD:0008479", "MEDGEN:348201", "MESH:C536847", "OMIM:190340", "Orphanet:538756", "UMLS:C1860850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008595", "name": "Trichoepitheliomas, multiple desmoplastic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trichoepitheliomas, multiple desmoplastic"], "xref": ["MEDGEN:348200", "MESH:C566034", "OMIM:190345", "UMLS:C1860849"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.", "id": "MONDO:0008596", "name": "Trichorhinophalangeal syndrome type i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sugio-Kajii syndrome", "TRPS 1", "TRPS1", "trichorhinophalangeal dysplasia (syndrome) types 1/3", "trichorhinophalangeal dysplasia type I", "trichorhinophalangeal dysplasia types 1/3", "trichorhinophalangeal syndrome type 1", "trichorhinophalangeal syndrome type I", "trichorhinophalangeal syndrome, type 1", "trichorhinophalangeal syndrome, type I", "type III trichorhinophalangeal syndrome"], "xref": ["DOID:14743", "GARD:0007800", "ICD9:759.89", "MEDGEN:140929", "MESH:C536820", "NCIT:C75109", "NORD:1787", "OMIM:190350", "Orphanet:77258", "SCTID:254091006", "UMLS:C0432233"]}
{"category": ["biolink:Disease"], "description": "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0008598", "name": "Trichodysplasia-xeroderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005261", "MEDGEN:349898", "MESH:C566032", "OMIM:190360", "Orphanet:3361", "UMLS:C1860822"]}
{"category": ["biolink:Disease"], "description": "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.", "id": "MONDO:0008599", "name": "Trigeminal neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neuralgia of trigeminal nerve", "trigeminal nerve neuralgia", "trigeminal neuralgia"], "xref": ["DOID:12098", "EFO:1001219", "GARD:0007805", "ICD10CM:G50.0", "ICD9:350.1", "MEDGEN:21683", "MESH:D014277", "MedDRA:10044652", "NORD:1791", "OMIM:190400", "Orphanet:221091", "SCTID:31681005", "UMLS:C0040997", "icd11.foundation:1803581281"]}
{"category": ["biolink:Disease"], "description": "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).", "id": "MONDO:0008600", "name": "Trigger thumb", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trigger thumb"], "xref": ["ICD10CM:M65.31", "MEDGEN:98044", "MESH:D052582", "OMIM:190410", "SCTID:42786005", "UMLS:C0410060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008601", "name": "Triglyceride storage disease, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024634", "MEDGEN:349897", "MESH:C566031", "OMIM:190420", "UMLS:C1860821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008602", "name": "Triglyceride storage disease, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024635", "MEDGEN:349896", "MESH:C566030", "OMIM:190430", "UMLS:C1860820"]}
{"category": ["biolink:Disease"], "description": "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.", "id": "MONDO:0008603", "name": "Trigonocephaly 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FGFR1 isolated trigonocephaly", "isolated trigonocephaly caused by mutation in FGFR1", "trigonocephaly 1", "trigonocephaly type 1"], "xref": ["GARD:0018558", "MEDGEN:98473", "OMIM:190440", "UMLS:C0432122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008604", "name": "Triphalangeal thumb with double phalanges", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["triphalangeal thumb with double phalanges"], "xref": ["MEDGEN:395985", "MESH:C566028", "OMIM:190500", "UMLS:C1860807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008605", "name": "Triphalangeal thumb, nonopposable", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["triphalangeal thumb, Nonopposable"], "xref": ["MEDGEN:444008", "MESH:C536562", "OMIM:190600", "UMLS:C2931238"]}
{"category": ["biolink:Disease"], "description": "Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.", "id": "MONDO:0008606", "name": "Say-field-coldwell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["triphalangeal thumbs-dislocation of patella syndrome"], "xref": ["GARD:0000242", "MEDGEN:348711", "MESH:C536619", "OMIM:190650", "Orphanet:3133", "UMLS:C1860805"]}
{"category": ["biolink:Disease"], "description": "Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.", "id": "MONDO:0008607", "name": "Triphalangeal thumbs-brachyectrodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carnevale-Hernández-del Castillo syndrome"], "xref": ["GARD:0005290", "MEDGEN:348710", "MESH:C536564", "OMIM:190680", "Orphanet:2947", "UMLS:C1860804"]}
{"category": ["biolink:Disease"], "description": "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.", "id": "MONDO:0008608", "name": "Down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Down syndrome", "Down syndrome, Isolated cases", "Down's syndrome", "leukemia, megakaryoblastic, with or without Down syndrome, somatic", "trisomy 21 (Down syndrome)"], "xref": ["DOID:14250", "EFO:0001064", "ICD10CM:Q90", "ICD10WHO:Q90", "ICD9:758.0", "MEDGEN:4385", "MESH:D004314", "MedDRA:10044688", "NANDO:2200965", "NCIT:C2993", "OMIM:190685", "Orphanet:870", "SCTID:41040004", "UMLS:C0013080", "icd11.foundation:1624623908"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008609", "name": "Tristichiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tristichiasis"], "xref": ["MEDGEN:349889", "OMIM:190800", "UMLS:C1860785"]}
{"category": ["biolink:Disease"], "description": "Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.", "id": "MONDO:0008610", "name": "Blue color blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital tritanopia", "tritan color blindness", "tritan colour blindness", "tritan defect", "tritanopia"], "xref": ["DOID:11661", "GARD:0016768", "ICD9:368.53", "MEDGEN:57827", "OMIM:190900", "Orphanet:88629", "SCTID:51886007", "UMLS:C0155017"]}
{"category": ["biolink:Disease"], "description": "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.", "id": "MONDO:0008611", "name": "Humerus trochlea aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002750", "MEDGEN:348185", "MESH:C566022", "OMIM:191000", "Orphanet:3383", "SCTID:732928005", "UMLS:C1860773"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.", "id": "MONDO:0008612", "name": "Tuberous sclerosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["TSC1 tuberous sclerosis", "TSC1-related tuberous sclerosis", "tuberous sclerosis 1", "tuberous sclerosis caused by mutation in TSC1", "tuberous sclerosis type 1", "tuberous sclerosis-1"], "xref": ["DOID:0080324", "GARD:0015121", "MEDGEN:344288", "MESH:C565346", "NCIT:C75122", "OMIM:191100", "UMLS:C1854465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008613", "name": "Tuftsin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tuftsin deficiency"], "xref": ["ICD9:279.03", "MEDGEN:98311", "MESH:C562872", "OMIM:191150", "SCTID:234584007", "UMLS:C0398741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008614", "name": "Suppressor of tumorigenicity 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ST3", "suppressor of tumorigenicity 3"], "xref": ["MEDGEN:348673", "OMIM:191181", "UMLS:C1860658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008615", "name": "Tune deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tune deafness"], "xref": ["ICD9:389.8", "MEDGEN:349862", "MESH:C566019", "OMIM:191200", "SCTID:55647004", "UMLS:C1860646"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.", "id": "MONDO:0008617", "name": "Inflammatory bowel disease 11", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD11", "inflammatory bowel disease 11", "inflammatory bowel disease type 11"], "xref": ["DOID:0110894", "MEDGEN:393069", "MESH:C567154", "OMIM:191390", "UMLS:C2674051"]}
{"category": ["biolink:Disease"], "description": "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.", "id": "MONDO:0008618", "name": "Mesomelic dwarfism, reinhardt-pfeiffer type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reinhardt-Pfeiffer mesomelic dysplasia", "Reinhardt-Pfeiffer syndrome"], "xref": ["GARD:0003555", "MEDGEN:395935", "MESH:C537349", "OMIM:191400", "Orphanet:2634", "SCTID:715472000", "UMLS:C1860616", "icd11.foundation:1393171517"]}
{"category": ["biolink:Disease"], "description": "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.", "id": "MONDO:0008619", "name": "Ulna metaphyseal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rosenberg-Lohr syndrome", "ulna metaphyseal dysplasia syndrome"], "xref": ["GARD:0004740", "MEDGEN:348149", "MESH:C536935", "OMIM:191420", "Orphanet:1837", "SCTID:715242008", "UMLS:C1860615", "icd11.foundation:1343160916"]}
{"category": ["biolink:Disease"], "description": "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.", "id": "MONDO:0008620", "name": "Upper limb mesomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fryns-Hofkens-Fabry syndrome", "upper limb mesomelic dysplasia"], "xref": ["GARD:0002408", "MEDGEN:1811806", "MESH:C538069", "OMIM:191440", "Orphanet:2497", "UMLS:C5574958", "icd11.foundation:2013121778"]}
{"category": ["biolink:Disease"], "description": "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.", "id": "MONDO:0008621", "name": "Uncombable hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pili trianguli et canaliculi", "uncombable hair syndrome"], "xref": ["GARD:0005404", "MEDGEN:96596", "MESH:C536939", "Orphanet:1410", "SCTID:254230001", "UMLS:C0432347", "icd11.foundation:244892708"]}
{"category": ["biolink:Disease"], "description": "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.", "id": "MONDO:0008622", "name": "Tricho-retino-dento-digital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bork syndrome", "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"], "xref": ["GARD:0000938", "MEDGEN:348658", "MESH:C536576", "OMIM:191482", "Orphanet:1264", "SCTID:719910004", "UMLS:C1860605", "icd11.foundation:200680230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008623", "name": "Undritz anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Undritz anomaly"], "xref": ["MEDGEN:348657", "MESH:C566014", "OMIM:191500", "UMLS:C1860604"]}
{"category": ["biolink:Disease"], "description": "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.", "id": "MONDO:0008624", "name": "Upington disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Upington disease", "hip dysplasia-enchondromata-ecchondroma syndrome"], "xref": ["GARD:0005421", "MEDGEN:348145", "MESH:C536472", "OMIM:191520", "Orphanet:3408", "SCTID:719041000", "UMLS:C1860596", "icd11.foundation:1846351406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008626", "name": "Ureter, bifid or double", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ureter, bifid or double"], "xref": ["MEDGEN:348142", "MESH:C566012", "OMIM:191550", "UMLS:C1860586"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the ureter", "id": "MONDO:0008627", "name": "Ureter cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of ureter", "malignant neoplasm of the ureter", "malignant neoplasm of ureter", "malignant tumor of the ureter", "malignant tumor of ureter", "malignant tumour of the ureter", "malignant ureter neoplasm", "malignant ureter tumor", "malignant ureter tumour", "malignant ureteral neoplasm", "malignant ureteral tumor", "malignant ureteral tumour", "ureter cancer"], "xref": ["DOID:11819", "ICD10CM:C66", "ICD9:189.2", "MEDGEN:102281", "MESH:D014516", "NCIT:C7543", "OMIM:191600", "SCTID:363458004", "UMLS:C0153619"]}
{"category": ["biolink:Disease"], "description": "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.", "id": "MONDO:0008628", "name": "Ureterocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ureterocele", "ureterocele (disease)"], "xref": ["DOID:4022", "EFO:1001227", "HP:0000070", "ICD9:593.89", "MEDGEN:21778", "MESH:D014518", "MedDRA:10056433", "NANDO:2200183", "NCIT:C123159", "OMIM:191650", "SCTID:12818004", "UMLS:C0041960", "icd11.foundation:408801251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008629", "name": "Urolithiasis, uric acid, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urolithiasis, uric acid, autosomal dominant"], "xref": ["DOID:0080654", "MEDGEN:393068", "OMIM:191700", "UMLS:C2674049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008630", "name": "Urinary bladder, atony of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atony of urinary bladder", "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT", "urinary bladder, atony of"], "xref": ["MEDGEN:1684829", "OMIM:191800", "UMLS:C5231389"]}
{"category": ["biolink:Disease"], "description": "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.", "id": "MONDO:0008632", "name": "Urticaria, aquagenic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urticaria, aquagenic"], "xref": ["ICD9:708.8", "MEDGEN:82663", "MESH:C562481", "OMIM:191850", "SCTID:89870006", "UMLS:C0263334"]}
{"category": ["biolink:Disease"], "description": "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).", "id": "MONDO:0008633", "name": "Muckle-wells syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Muckle-Wells syndrome", "neutrophilic urticaria"], "xref": ["DOID:0050854", "GARD:0008472", "ICD9:708.8", "MEDGEN:120634", "MedDRA:10064569", "NANDO:1200467", "NANDO:2201067", "NCIT:C119054", "NORD:1459", "OMIM:191900", "Orphanet:575", "SCTID:402417009", "UMLS:C0268390", "icd11.foundation:1983358487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008634", "name": "Urticaria, familial localized heat", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["urticaria, familial localized heat"], "xref": ["MEDGEN:395922", "MESH:C566011", "OMIM:191950", "UMLS:C1860551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008635", "name": "Uterine anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["uterine anomalies"], "xref": ["MEDGEN:78598", "MESH:C562565", "OMIM:192000", "UMLS:C0266383"]}
{"category": ["biolink:Disease"], "description": "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.", "id": "MONDO:0008636", "name": "Double uterus-hemivagina-renal agenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Double uterus and obstructed hemivagina syndrome", "Herlyn-Werner syndrome", "OHVIRA syndrome", "Wunderlich syndrome", "obstructed hemivagina and ipsilateral renal anomaly"], "xref": ["GARD:0001910", "MEDGEN:348132", "MESH:C566010", "OMIM:192050", "Orphanet:3411", "SCTID:722431007", "UMLS:C1860549"]}
{"category": ["biolink:Disease"], "description": "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.", "id": "MONDO:0008637", "name": "Bifid uvula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bifidity of the uvula", "uvular cleft"], "xref": ["GARD:0019687", "MEDGEN:1646931", "OMIM:192100", "Orphanet:99771", "SCTID:18910001", "UMLS:C4551488", "icd11.foundation:684398038"]}
{"category": ["biolink:Disease"], "description": "A vascular disease characterized by the presence of enlarged and tortuous veins.", "id": "MONDO:0008638", "name": "Varicose disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["varix"], "xref": ["DOID:799", "ICD9:454.9", "ICD9:456.8", "MEDGEN:21827", "MESH:D014648", "NCIT:C35114", "OMIM:192200", "SCTID:128060009", "UMLS:C0042345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008639", "name": "Vascular helix of umbilical cord", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vascular helix of umbilical cord"], "xref": ["MEDGEN:349836", "OMIM:192300", "UMLS:C1860520"]}
{"category": ["biolink:Disease"], "description": "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.", "id": "MONDO:0008640", "name": "Vasculitis, lymphocytic, nodular", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vasculitis, lymphocytic, nodular"], "xref": ["GARD:0006941", "MEDGEN:348635", "MESH:C566008", "OMIM:192310", "UMLS:C1860519"]}
{"category": ["biolink:Disease"], "description": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.", "id": "MONDO:0008641", "name": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RVCL", "RVCL-S", "hereditary vascular retinopathy", "retinal vasculopathy and cerebral leukoencephalopathy", "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"], "xref": ["DOID:0111567", "GARD:0001217", "MEDGEN:348124", "MESH:C566007", "NORD:1910", "OMIM:192315", "Orphanet:247691", "SCTID:720854004", "SCTID:721141004", "UMLS:C1860518", "icd11.foundation:554838792"]}
{"category": ["biolink:Disease"], "description": "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "id": "MONDO:0008642", "name": "Vacterl/vater association", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VACTERL Association", "VACTERL association", "VATER association", "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome"], "xref": ["DOID:14679", "GARD:0005443", "ICD9:759.89", "MEDGEN:902479", "MedDRA:10053665", "MedDRA:10066022", "NANDO:1200657", "NANDO:2200983", "NCIT:C99105", "NORD:1818", "OMIM:192350", "Orphanet:887", "SCTID:27742002", "UMLS:C4225671", "icd11.foundation:1452617987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008643", "name": "Veins, pattern of, on anterior thorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["veins, pattern of, on anterior thorax"], "xref": ["MEDGEN:348117", "OMIM:192400", "UMLS:C1860490"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.", "id": "MONDO:0008644", "name": "Velocardiofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["22q11 deletion syndrome", "Shprintzen VCF syndrome", "VCF syndrome", "deletion 22q11.2 syndrome", "velocardiofacial syndrome"], "xref": ["DOID:12583", "GARD:0015123", "ICD9:758.32", "MEDGEN:65085", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "OMIM:192430", "UMLS:C0220704"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.", "id": "MONDO:0008645", "name": "Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stoll-Kieny-Dott syndrome"], "xref": ["GARD:0005472", "MEDGEN:395493", "MESH:C537497", "OMIM:192445", "Orphanet:3201", "SCTID:719823007", "UMLS:C1860471"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.", "id": "MONDO:0008647", "name": "Hypertrophic cardiomyopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH1", "MYH7 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "cardiomyopathy, familial hypertrophic, type 1", "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "hypertrophic cardiomyopathy 1", "hypertrophic cardiomyopathy caused by mutation in MYH7", "hypertrophic cardiomyopathy type 1"], "xref": ["DOID:0110307", "GARD:0024636", "MEDGEN:501195", "OMIM:192600", "UMLS:C3495498"]}
{"category": ["biolink:Disease"], "description": "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0008648", "name": "Ventricular tachycardia, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary ventricular tachycardia", "ventricular tachycardia, familial", "ventricular tachycardia, idiopathic"], "xref": ["GARD:0002263", "MEDGEN:83309", "OMIM:192605", "SCTID:233906007", "UMLS:C0340485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008649", "name": "Venular insufficiency, systemic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["venular insufficiency, systemic"], "xref": ["MEDGEN:348623", "MESH:C566004", "OMIM:192700", "UMLS:C1860465"]}
{"category": ["biolink:Disease"], "description": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.", "id": "MONDO:0008650", "name": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Faulk-Epstein-Jones syndrome"], "xref": ["GARD:0002276", "MEDGEN:348108", "MESH:C536344", "OMIM:192800", "Orphanet:2064", "SCTID:724064004", "UMLS:C1860464"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008651", "name": "Vertebral hypoplasia with lumbar kyphosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vertebral hypoplasia with lumbar kyphosis"], "xref": ["MEDGEN:348622", "MESH:C566002", "OMIM:192900", "UMLS:C1860463"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.", "id": "MONDO:0008652", "name": "Congenital vertical talus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, foot deformity of", "congenital convex foot", "congenital convex pes valgus", "congenital rocker-bottom foot"], "xref": ["DOID:0111568", "GARD:0005488", "ICD9:755.67", "MEDGEN:66821", "MESH:C536345", "MedDRA:10066242", "OMIM:192950", "Orphanet:178382", "SCTID:205082007", "UMLS:C0240912", "icd11.foundation:1525079646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008653", "name": "Vesicoureteral reflux 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VUR1", "vesicoureteral reflux 1"], "xref": ["GARD:0018418", "MEDGEN:1644868", "OMIM:193000", "UMLS:C4551858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008654", "name": "Spinocerebellar ataxia 27a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NYS4", "NYSTAGMUS 4, congenital, autosomal dominant", "nystagmus 4, congenital, autosomal dominant"], "xref": ["GARD:0009603", "MESH:C537856", "OMIM:193003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008655", "name": "Vestibulocochlear dysfunction, progressive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vestibulocochlear dysfunction, progressive"], "xref": ["MEDGEN:419730", "MESH:C536346", "OMIM:193005", "UMLS:C2931176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008659", "name": "Transcobalamin i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Haptocorrin deficiency", "TCI deficiency", "transcobalamin I deficiency", "transcobalamin-1 deficiency"], "xref": ["GARD:0004522", "MEDGEN:90993", "MESH:C562798", "OMIM:193090", "Orphanet:2967", "SCTID:237933007", "UMLS:C0342700"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.", "id": "MONDO:0008660", "name": "Autosomal dominant hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADHR", "autosomal dominant hereditary hypophosphatemic rickets", "autosomal dominant hypophosphatemia", "autosomal dominant hypophosphatemic rickets", "hereditary hypophosphatemic rickets, autosomal dominant", "hypophosphatemic rickets, autosomal dominant"], "xref": ["DOID:0050948", "GARD:0016781", "MEDGEN:83346", "MESH:C562791", "OMIM:193100", "Orphanet:89937", "SCTID:237889002", "UMLS:C0342642"]}
{"category": ["biolink:Disease"], "description": "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.", "id": "MONDO:0008661", "name": "Vitiligo", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:12306", "EFO:0004208", "ICD10CM:L80", "ICD10WHO:L80", "ICD9:709.01", "MEDGEN:22677", "MESH:D014820", "NCIT:C26915", "Orphanet:247871", "UMLS:C0042900", "icd11.foundation:1894744640"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.", "id": "MONDO:0008662", "name": "Autosomal dominant vitreoretinochoroidopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADVIRC"], "xref": ["DOID:0111569", "GARD:0005507", "MEDGEN:854768", "MESH:C536352", "OMIM:193220", "Orphanet:3086", "SCTID:711162004", "UMLS:C3888099", "icd11.foundation:96951767"]}
{"category": ["biolink:Disease"], "description": "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.", "id": "MONDO:0008663", "name": "Snowflake vitreoretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["snowflake vitreoretinal degeneration"], "xref": ["DOID:0111570", "GARD:0009706", "MEDGEN:395476", "MESH:C536677", "OMIM:193230", "Orphanet:91496", "UMLS:C1860405", "icd11.foundation:282570444"]}
{"category": ["biolink:Disease"], "description": "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0008665", "name": "Ptosis-vocal cord paralysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tucker syndrome"], "xref": ["GARD:0000427", "MEDGEN:349807", "MESH:C536923", "OMIM:193240", "Orphanet:2997", "UMLS:C1860403"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.", "id": "MONDO:0008666", "name": "Volvulus of midgut", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital malrotation of intestine", "intestinal malrotation", "volvulus of midgut"], "xref": ["GARD:0027787", "MEDGEN:113153", "MESH:C562456", "NCIT:C98961", "OMIM:193250", "Orphanet:508410", "SCTID:458422009", "UMLS:C0221210"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas.", "id": "MONDO:0008667", "name": "Von hippel-lindau disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lindau disease", "VHL", "VHL-related von Hippel-Lindau disease", "Von Hippel-Lindau syndrome", "Von Hippel-Lindau syndrome (VHL)", "cerebroretinal angiomatosis", "familial cerebelloretinal angiomatosis", "von Hippel-Lindau disease", "von Hippel-Lindau syndrome", "von Hippel-Lindau syndrome, modifier of"], "xref": ["DOID:14175", "GARD:0007855", "ICD9:759.6", "MEDGEN:42458", "MESH:D006623", "MedDRA:10047716", "NANDO:2200408", "NANDO:2200829", "NCIT:C3105", "NORD:1830", "OMIM:193300", "Orphanet:892", "SCTID:46659004", "UMLS:C0019562", "icd11.foundation:1985408165"]}
{"category": ["biolink:Disease"], "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).", "id": "MONDO:0008668", "name": "Von willebrand disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["VWD1", "von Willebrand disease 1", "von Willebrand disease type 1", "von Willebrand's disease type 1", "von willebrand's disease 1"], "xref": ["DOID:0060573", "GARD:0017019", "MEDGEN:220393", "MESH:D056725", "NCIT:C131685", "OMIM:193400", "Orphanet:166078", "SCTID:128106003", "UMLS:C1264039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008669", "name": "Vulvovaginitis, allergic seminal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vulvovaginitis, allergic seminal"], "xref": ["MEDGEN:348089", "MESH:C565993", "OMIM:193450", "UMLS:C1860357"]}
{"category": ["biolink:Disease"], "description": "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.", "id": "MONDO:0008670", "name": "Waardenburg syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["WS1", "Waardenburg syndrome type 1", "Waardenburg syndrome type I"], "xref": ["DOID:0110948", "GARD:0005519", "MEDGEN:376211", "NCIT:C75008", "OMIM:193500", "Orphanet:894", "UMLS:C1847800", "icd11.foundation:547536187"]}
{"category": ["biolink:Disease"], "description": "Waardenburg syndrome Type 2 caused by mutations in the MITF gene.", "id": "MONDO:0008671", "name": "Waardenburg syndrome type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["MITF Waardenburg syndrome type 2", "WS2A", "Waardenburg syndrome type 2 caused by mutation in MITF", "Waardenburg syndrome type 2A", "Waardenburg syndrome type IIA"], "xref": ["DOID:0110950", "GARD:0005521", "MEDGEN:349786", "MESH:C536464", "NCIT:C75011", "OMIM:193510", "UMLS:C1860339"]}
{"category": ["biolink:Disease"], "description": "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.", "id": "MONDO:0008672", "name": "Watson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Watson syndrome"], "xref": ["DOID:0070483", "GARD:0005540", "ICD9:709.8", "MEDGEN:107817", "OMIM:193520", "Orphanet:3444", "SCTID:403820003", "UMLS:C0553586", "icd11.foundation:1674178232"]}
{"category": ["biolink:Disease"], "description": "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.", "id": "MONDO:0008673", "name": "Acrofacial dysostosis, weyers type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Weyers acrodental dysostosis", "Weyers acrofacial dysostosis", "curry-Hall syndrome"], "xref": ["DOID:0111571", "GARD:0000497", "ICD9:520.8", "MEDGEN:141594", "MESH:C536695", "OMIM:193530", "Orphanet:952", "SCTID:277807007", "UMLS:C0457013", "icd11.foundation:547338814"]}
{"category": ["biolink:Disease"], "description": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.", "id": "MONDO:0008675", "name": "Freeman-sheldon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Craniocarpotarsal dysplasia", "Craniocarpotarsal dystrophy", "Freeman Sheldon Syndrome", "Freeman Sheldon syndrome", "Freeman-Sheldon syndrome", "arthrogryposis, distal, type 2A (Freeman-Sheldon)", "cranio-carpo-tarsal syndrome", "craniocarpotarsal dysplasia", "craniocarpotarsal dystrophy", "distal arthrogryposis type 2A", "whistling face syndrome", "whistling face-windmill vane hand syndrome", "whistling-face syndrome", "windmill-vane-hand syndrome"], "xref": ["DOID:0111604", "DOID:0111605", "GARD:0006466", "MEDGEN:120516", "MESH:C535483", "NCIT:C98931", "NORD:1161", "OMIM:193700", "Orphanet:2053", "SCTID:52616002", "UMLS:C0265224", "icd11.foundation:1314169421"]}
{"category": ["biolink:Disease"], "description": "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.", "id": "MONDO:0008676", "name": "White sponge nevus 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KRT4 hereditary mucosal leukokeratosis", "White sponge Nevus type 1", "hereditary mucosal leukokeratosis caused by mutation in KRT4", "white sponge nevus 1"], "xref": ["DOID:0081287", "GARD:0024637", "MEDGEN:860363", "OMIM:193900", "UMLS:C4011926"]}
{"category": ["biolink:Disease"], "description": "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)", "id": "MONDO:0008678", "name": "Williams syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Williams syndrome", "Williams-Beuren syndrome", "Williams-Beuren syndrome (WBS)", "deletion 7q11.23", "monosomy 7q11.23"], "xref": ["DECIPHER:3", "DOID:1928", "GARD:0007891", "ICD10CM:Q93.82", "ICD9:759.89", "MEDGEN:59799", "MESH:D018980", "MedDRA:10049644", "NANDO:1200664", "NANDO:2200286", "NCIT:C85232", "NORD:1854", "OMIM:194050", "Orphanet:904", "SCTID:63247009", "UMLS:C0175702"]}
{"category": ["biolink:Disease"], "description": "An autosomal disorder due to pathogenic variants in the WT1 gene leading to an increased risk Wilms tumor and genitourinary abnormalities incorporating Denys-Drash syndrome and Frasier syndrome.", "id": "MONDO:0008679", "name": "Wilms tumor 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["WT1-related Wilms tumor predisposition", "Wilms tumor 1", "Wilms tumor type 1", "Wilms tumor, autosomal dominant, somatic mutation", "Wilms tumor, somatic", "Wilms tumor, type 1, autosomal dominant, somatic mutation", "Wilms tumour type 1"], "xref": ["GARD:0015124", "OMIM:194070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008680", "name": "Wilms tumor 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Wilms tumor 2", "Wilms tumor 2, autosomal dominant, somatic mutation", "Wilms tumor type 2", "Wilms tumour 2, autosomal dominant, somatic mutation", "Wilms tumour type 2"], "xref": ["GARD:0008559", "MEDGEN:854562", "MESH:C536853", "OMIM:194071", "UMLS:C3887743"]}
{"category": ["biolink:Disease"], "description": "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.", "id": "MONDO:0008681", "name": "Wagr syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["11p partial monosomy syndrome", "Del(11)(p13)", "WAGR 11p13 deletion syndrome", "WAGR Syndrome/11p Deletion Syndrome", "WAGR syndrome", "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome", "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome", "chromosome 11p13 deletion syndrome", "deletion 11p13", "monosomy 11p13"], "xref": ["DECIPHER:35", "DOID:14515", "GARD:0005528", "MEDGEN:64512", "MESH:D017624", "NCIT:C3718", "NORD:1833", "OMIM:194072", "Orphanet:893", "SCTID:715215007", "UMLS:C0206115", "icd11.foundation:1858307812"]}
{"category": ["biolink:Disease"], "description": "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.", "id": "MONDO:0008682", "name": "Denys-drash syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Denys Drash syndrome", "Denys-Drash syndrome", "Denys-Drash syndrome, autosomal dominant, somatic mutation", "Drash syndrome", "Wilms tumor and pseudohermaphroditism", "Wilms tumour and pseudohermaphroditism", "nephrotic syndrome type 4"], "xref": ["DOID:3764", "GARD:0005576", "ICD9:189.0", "MEDGEN:181980", "MESH:D030321", "MedDRA:10070179", "NANDO:2200116", "NCIT:C84668", "NORD:1044", "OMIM:194080", "Orphanet:220", "SCTID:236385009", "UMLS:C0950121", "icd11.foundation:904981302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008683", "name": "Wilms tumor 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Wilms tumor 3", "Wilms tumor, type 3"], "xref": ["GARD:0015125", "MEDGEN:349770", "MESH:C565991", "OMIM:194090", "UMLS:C1860265"]}
{"category": ["biolink:Disease"], "description": "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.", "id": "MONDO:0008684", "name": "Wolf-hirschhorn syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["4p deletion syndrome", "4p- syndrome", "Pitt syndrome", "Pitt-Rogers-Danks syndrome", "Wittwer syndrome", "Wolf-Hirschhorn syndrome", "Wolf-Hirschhorn syndrome, Isolated cases", "chromosome 4p16.3 deletion syndrome", "distal deletion 4p", "distal monosomy 4p", "telomeric deletion 4p"], "xref": ["DECIPHER:1", "DOID:0050460", "GARD:0007896", "MEDGEN:408255", "MESH:D054877", "MedDRA:10050361", "NANDO:1200683", "NANDO:2200962", "NCIT:C35528", "NORD:1859", "OMIM:194190", "Orphanet:280", "SCTID:718226002", "UMLS:C1956097", "icd11.foundation:1337401724"]}
{"category": ["biolink:Disease"], "description": "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.", "id": "MONDO:0008685", "name": "Wolff-parkinson-white syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["WPW", "Wolff-Parkinson-White pattern (finding)", "Wolff-Parkinson-White syndrome", "Wolff-Parkinson-white syndrome (disease)", "ventricular familial preexcitation syndrome"], "xref": ["DOID:384", "EFO:1001450", "HP:0001716", "ICD9:426.7", "MEDGEN:12162", "MESH:D014927", "NANDO:2200217", "NCIT:C35132", "OMIM:194200", "Orphanet:907", "SCTID:17869006", "UMLS:C0043202", "icd11.foundation:1091030330"]}
{"category": ["biolink:Disease"], "description": "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.", "id": "MONDO:0008686", "name": "Isolated familial wooly hair disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial woolly hair syndrome", "familial wooly hair syndrome", "hereditary woolly hair syndrome", "hereditary wooly hair syndrome", "woolly hair", "wooly hair"], "xref": ["DOID:0111572", "GARD:0005597", "HP:0002224", "MEDGEN:87469", "MESH:C536745", "MedDRA:10048017", "Orphanet:170", "SCTID:52564001", "UMLS:C0343073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008687", "name": "Woronets trait", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Woronets trait"], "xref": ["MEDGEN:348570", "OMIM:194320", "UMLS:C1860237"]}
{"category": ["biolink:Disease"], "description": "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.", "id": "MONDO:0008688", "name": "Wt limb-blood syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WT limb-blood syndrome"], "xref": ["GARD:0000039", "MEDGEN:231231", "MESH:C536751", "OMIM:194350", "Orphanet:3466", "SCTID:719019000", "UMLS:C1327917", "icd11.foundation:1407849410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008689", "name": "Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"], "xref": ["DOID:0111576", "GARD:0015126", "MEDGEN:1638271", "OMIM:194380", "UMLS:C4551512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008690", "name": "Xeroderma pigmentosum, autosomal dominant, mild", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["xeroderma pigmentosum, autosomal dominant, mild"], "xref": ["GARD:0024638", "MEDGEN:395440", "MESH:C565989", "OMIM:194400", "UMLS:C1860231"]}
{"category": ["biolink:Disease"], "description": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.", "id": "MONDO:0008692", "name": "Abetalipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bassen-Kornzweig disease", "abetalipoproteinemia", "homozygous familial hypobetalipoproteinemia"], "xref": ["DOID:1386", "GARD:0000005", "MEDGEN:1253", "MESH:D000012", "NANDO:1200857", "NANDO:2200604", "NCIT:C84525", "NORD:703", "OMIM:200100", "Orphanet:14", "SCTID:190787008", "UMLS:C0000744", "icd11.foundation:1117838449"]}
{"category": ["biolink:Disease"], "description": "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.", "id": "MONDO:0008693", "name": "Ablepharon macrostomia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMS", "Ablepharon-Macrostomia Syndrome", "ablepharon-macrostomia syndrome"], "xref": ["DOID:0060550", "GARD:0000003", "MEDGEN:395439", "MESH:C535557", "NORD:704", "OMIM:200110", "Orphanet:920", "SCTID:718575002", "UMLS:C1860224"]}
{"category": ["biolink:Disease"], "description": "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.", "id": "MONDO:0008694", "name": "Pseudoprogeria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hal-Berg-Rudolph syndrome", "absent eyebrows and eyelashes-intellectual disability syndrome", "eyebrows and eyelashes absence-intellectual disability syndrome", "pseudoprogeria syndrome"], "xref": ["GARD:0000415", "MEDGEN:163218", "MESH:C563111", "OMIM:200130", "Orphanet:2985", "SCTID:733086003", "UMLS:C0796125"]}
{"category": ["biolink:Disease"], "description": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene.", "id": "MONDO:0008695", "name": "Vps13a-related neurodegenerative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHAC", "Chac", "Levine-Critchley syndrome", "VPS13A disease", "chorea-acanthocytosis", "choreoacanthocytosis"], "xref": ["DOID:0050766", "GARD:0003956", "ICD9:333.0", "MEDGEN:98277", "NANDO:1200014", "OMIM:200150", "Orphanet:2388", "SCTID:66881004", "UMLS:C0393576"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.", "id": "MONDO:0008696", "name": "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000453", "MEDGEN:348051", "MESH:C536000", "OMIM:200170", "Orphanet:90301", "UMLS:C1860215"]}
{"category": ["biolink:Disease"], "description": "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.", "id": "MONDO:0008698", "name": "Achalasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["achalasia", "achalasia (disease)", "achalasia of cardia", "achalasia of oesophagus", "cardiospasm", "esophageal achalasia"], "xref": ["DOID:9164", "HP:0002571", "ICD10CM:K22.0", "ICD9:530.0", "MEDGEN:5023", "SCTID:235630008", "UMLS:C0014848", "icd11.foundation:636464846"]}
{"category": ["biolink:Disease"], "description": "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.", "id": "MONDO:0008699", "name": "Achalasia microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["achalasia-microcephaly syndrome"], "xref": ["DOID:0050796", "GARD:0000456", "MEDGEN:349753", "MESH:C536010", "OMIM:200450", "Orphanet:929", "SCTID:718573009", "UMLS:C1860212"]}
{"category": ["biolink:Disease"], "description": "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.", "id": "MONDO:0008700", "name": "Acheiropody", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acheiropodia", "acheiropody"], "xref": ["DOID:0050603", "GARD:0000376", "MEDGEN:120547", "MESH:C536014", "OMIM:200500", "Orphanet:931", "SCTID:177504007", "UMLS:C0265559"]}
{"category": ["biolink:Disease"], "description": "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.", "id": "MONDO:0008701", "name": "Achondrogenesis type ia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["achondrogenesis, Houston-Harris type"], "xref": ["DOID:0080054", "GARD:0000459", "ICD9:756.9", "MEDGEN:78546", "MESH:C536015", "OMIM:200600", "Orphanet:93299", "SCTID:42725006", "UMLS:C0265273"]}
{"category": ["biolink:Disease"], "description": "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.", "id": "MONDO:0008702", "name": "Achondrogenesis type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["achondrogenesis type II", "achondrogenesis, Langer-Saldino type", "achondrogenesis, type II or hypochondrogenesis"], "xref": ["DOID:0080056", "GARD:0008713", "MEDGEN:66315", "MESH:C536017", "NANDO:2201345", "OMIM:200610", "Orphanet:93296", "UMLS:C0220685"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.", "id": "MONDO:0008703", "name": "Acromesomelic dysplasia 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GREBE chondrodysplasia", "Grebe chondrodysplasia", "Grebe dysplasia", "Langer-Saldino achondrogenesis", "acromesomelic dysplasia 2A", "acromesomelic dysplasia, Grebe type", "chondrodysplasia, Grebe type", "type II achondrogenesis"], "xref": ["DOID:0080052", "GARD:0001300", "MEDGEN:75557", "NANDO:2201345", "NANDO:2201346", "NCIT:C3816", "OMIM:200700", "Orphanet:2098", "UMLS:C0265260"]}
{"category": ["biolink:Disease"], "description": "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.", "id": "MONDO:0008704", "name": "Short-limb skeletal dysplasia with severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["achondroplasia-SCID syndrome", "achondroplasia-Swiss type agammaglobulinemia syndrome", "achondroplasia-severe combined immunodeficiency syndrome", "immunodeficiency-short limb dwarfism syndrome", "short limb skeletal dysplasia with SCID", "short-limb skeletal dysplasia with severe combined immunodeficiency"], "xref": ["GARD:0002988", "MEDGEN:348040", "MESH:C565984", "OMIM:200900", "Orphanet:935", "UMLS:C1860168", "icd11.foundation:469016488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008705", "name": "Lysosomal acid phosphatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acid phosphatase deficiency", "lysosomal acid phosphatase deficiency"], "xref": ["GARD:0016636", "ICD9:277.6", "MEDGEN:78674", "MESH:C562645", "OMIM:200950", "Orphanet:35121", "SCTID:57863006", "UMLS:C0268410"]}
{"category": ["biolink:Disease"], "description": "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.", "id": "MONDO:0008706", "name": "Ackerman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ackerman fused molar rooth syndrome", "Ackerman syndrome", "pyramidal molar-glaucoma-upper abnormal lip syndrome"], "xref": ["GARD:0000469", "MEDGEN:395426", "MESH:C538170", "OMIM:200970", "Orphanet:2561", "SCTID:722280000", "UMLS:C1860167", "icd11.foundation:1946127088"]}
{"category": ["biolink:Disease"], "description": "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.", "id": "MONDO:0008707", "name": "Acro-renal-mandibular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["split hand/split foot-mandibular hypoplasia syndrome"], "xref": ["GARD:0000480", "MEDGEN:395425", "MESH:C535665", "OMIM:200980", "Orphanet:958", "SCTID:720414005", "UMLS:C1860166", "icd11.foundation:879242648"]}
{"category": ["biolink:Disease"], "description": "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.", "id": "MONDO:0008708", "name": "Acrocallosal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACLS", "ACS", "Schinzel acrocallosal syndrome", "Schinzel syndrome 1", "acrocallosal syndrome"], "xref": ["DOID:9250", "GARD:0005721", "MEDGEN:162915", "MESH:D055673", "NCIT:C84531", "OMIM:200990", "Orphanet:36", "SCTID:715951007", "UMLS:C0796147", "icd11.foundation:1286493807"]}
{"category": ["biolink:Disease"], "description": "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.", "id": "MONDO:0008709", "name": "Acrocephalopolydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Elejalde syndrome", "acrocephalopolydactylous dysplasia"], "xref": ["GARD:0002096", "MEDGEN:501209", "MESH:C573722", "OMIM:200995", "Orphanet:221054", "SCTID:720417003", "UMLS:C3495588", "icd11.foundation:1177551296"]}
{"category": ["biolink:Disease"], "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.", "id": "MONDO:0008710", "name": "Rab23-related carpenter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carpenter syndrome 1", "Carpenter syndrome caused by mutation in RAB23", "Carpenter syndrome type 1", "RAB23 Carpenter syndrome", "RAB23-related Carpenter syndrome"], "xref": ["DOID:0061098", "GARD:0015128", "MEDGEN:1644017", "OMIM:201000", "SCTID:205813009", "UMLS:C4551510"]}
{"category": ["biolink:Disease"], "description": "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.", "id": "MONDO:0008711", "name": "Goodman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["ACPS 4", "ACPS4", "Goodman syndrome", "acrocephalopolysyndactyly type 4"], "xref": ["GARD:0002549", "MEDGEN:78551", "MESH:C537287", "OMIM:201020", "Orphanet:65798", "SCTID:720600004", "UMLS:C0265303"]}
{"category": ["biolink:Disease"], "description": "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0008712", "name": "Acrocraniofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaplan-Plauchu-Fitch syndrome", "acrocraniofacial dysostosis"], "xref": ["GARD:0003075", "MEDGEN:349738", "MESH:C536892", "OMIM:201050", "Orphanet:949", "SCTID:720418008", "UMLS:C1860145"]}
{"category": ["biolink:Disease"], "description": "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.", "id": "MONDO:0008713", "name": "Acrodermatitis enteropathica", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AEZ", "acrodermatitis enteropathica", "acrodermatitis enteropathica, zinc deficiency type", "inherited zinc deficiency"], "xref": ["DOID:0050605", "GARD:0005723", "ICD9:686.8", "MEDGEN:66355", "MESH:C538178", "NANDO:2200584", "NCIT:C128802", "NORD:721", "OMIM:201100", "Orphanet:37", "SCTID:37702000", "UMLS:C0221036", "icd11.foundation:1813939482"]}
{"category": ["biolink:Disease"], "description": "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.", "id": "MONDO:0008714", "name": "Acrofacial dysostosis rodriguez type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060383", "GARD:0000496", "MEDGEN:349730", "MESH:C538183", "OMIM:201170", "Orphanet:1788", "SCTID:720430002", "UMLS:C1860119"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.", "id": "MONDO:0008715", "name": "Acrofrontofacionasal dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richieri-Costa-Colletto syndrome"], "xref": ["DOID:0060226", "GARD:0000484", "MEDGEN:349729", "Orphanet:1784", "SCTID:720408003", "UMLS:C1860118", "icd11.foundation:700995487"]}
{"category": ["biolink:Disease"], "description": "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.", "id": "MONDO:0008716", "name": "Acrogeria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gottron Syndrome", "Gottron syndrome", "acrogeria, Gottron type", "acrometageria"], "xref": ["GARD:0006543", "ICD9:259.8", "MEDGEN:96063", "MESH:C538187", "NORD:1202", "OMIM:201200", "Orphanet:2500", "SCTID:238872007", "UMLS:C0406584", "icd11.foundation:1607996977"]}
{"category": ["biolink:Disease"], "description": "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.", "id": "MONDO:0008717", "name": "Acromesomelic dysplasia 2c, hunter-thompson type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acromesomelic dwarfism", "acromesomelic dysplasia 2C, Hunter-Thompson type", "acromesomelic dysplasia, Hunter-Thompson type"], "xref": ["DOID:0080051", "GARD:0000506", "MEDGEN:419681", "OMIM:201250", "Orphanet:968", "UMLS:C2930970"]}
{"category": ["biolink:Disease"], "description": "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.", "id": "MONDO:0008718", "name": "Morvan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Morvan's fibrillary chorea", "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome"], "xref": ["EFO:1001897", "GARD:0009766", "MEDGEN:1632829", "Orphanet:83467", "SCTID:763803004", "UMLS:C3854373"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of acrorenal syndrome.", "id": "MONDO:0008719", "name": "Acrorenal syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acrorenal syndrome, autosomal recessive", "autosomal recessive acrorenal syndrome"], "xref": ["GARD:0015130", "MEDGEN:163241", "MESH:C535666", "OMIM:201310", "UMLS:C0796290"]}
{"category": ["biolink:Disease"], "description": "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.", "id": "MONDO:0008720", "name": "Congenital isolated adrenocorticotropic hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenocorticotropic hormone deficiency", "congenital isolated adrenocorticotropic hormone deficiency (disease)"], "xref": ["DOID:0080150", "EFO:1001979", "GARD:0005727", "HP:0011748", "ICD9:255.41", "MEDGEN:137968", "MESH:C535668", "OMIM:201400", "Orphanet:199296", "SCTID:237692001", "UMLS:C0342388"]}
{"category": ["biolink:Disease"], "description": "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.", "id": "MONDO:0008721", "name": "Medium chain acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACADM deficiency", "Acyl-CoA dehydrogenase, medium chain, deficiency of", "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency", "MCAD", "MCAD deficiency", "MCADD", "acyl-CoA dehydrogenase, medium-chain deficiency", "medium chain acyl-CoA dehydrogenase deficiency", "medium chain acyl-coenzyme A dehydrogenase deficiency", "medium-chain acyl-CoA dehydrogenase deficiency", "medium-chain acyl-Coenzyme A dehydrogenase deficiency"], "xref": ["DOID:0080153", "GARD:0000540", "ICD10CM:E71.311", "ICD9:277.85", "MEDGEN:65086", "MESH:C536038", "NANDO:2200513", "NCIT:C84538", "OMIM:201450", "Orphanet:42", "SCTID:128596003", "UMLS:C0220710", "icd11.foundation:627734797"]}
{"category": ["biolink:Disease"], "description": "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.", "id": "MONDO:0008722", "name": "Short chain acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACADS deficiency", "SCAD", "SCAD deficiency", "SCADD", "Short Chain Acyl CoA Dehydrogenase Deficiency", "acyl-CoA dehydrogenase, short-chain deficiency", "short chain acyl-CoA dehydrogenase deficiency", "short-chain acyl-CoA dehydrogenase deficiency (SCAD)", "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)"], "xref": ["DOID:0080154", "GARD:0004822", "ICD10CM:E71.312", "MEDGEN:90998", "MESH:C537596", "NANDO:2200514", "NCIT:C84539", "NORD:1709", "OMIM:201470", "Orphanet:26792", "UMLS:C0342783", "icd11.foundation:180018315"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.", "id": "MONDO:0008723", "name": "Very long chain acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VLCAD", "VLCAD deficiency", "VLCADD", "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)", "acyl-CoA dehydrogenase, very long-chain deficiency", "very long chain acyl-CoA dehydrogenase deficiency", "very long-chain acyl-CoA dehydrogenase deficiency", "very long-chain acyl-Coenzyme A dehydrogenase deficiency"], "xref": ["DOID:0080155", "GARD:0005508", "ICD10CM:E71.310", "MEDGEN:854382", "NANDO:2200512", "NANDO:2201139", "NCIT:C98647", "NORD:1827", "OMIM:201475", "Orphanet:26793", "SCTID:237997005", "UMLS:C3887523", "icd11.foundation:907810567"]}
{"category": ["biolink:Disease"], "description": "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.", "id": "MONDO:0008724", "name": "Adducted thumbs-arthrogryposis syndrome, christian type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010277", "MEDGEN:1875234", "OMIM:201550", "Orphanet:2952", "UMLS:C5975706"]}
{"category": ["biolink:Disease"], "description": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.", "id": "MONDO:0008725", "name": "Congenital lipoid adrenal hyperplasia due to star deficency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLAH", "lipoid adrenal hyperplasia"], "xref": ["GARD:0001465", "MEDGEN:83341", "OMIM:201710", "Orphanet:90790", "SCTID:44231009", "UMLS:C0342474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008726", "name": "Antley-bixler syndrome with genital anomalies and disordered steroidogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis", "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"], "xref": ["GARD:0016665", "MEDGEN:461449", "NCIT:C178415", "OMIM:201750", "Orphanet:63269", "UMLS:C3150099"]}
{"category": ["biolink:Disease"], "description": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.", "id": "MONDO:0008727", "name": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-beta HSD deficiency", "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"], "xref": ["GARD:0009152", "MEDGEN:452446", "MESH:C538236", "NANDO:1200398", "NANDO:2200371", "NCIT:C131088", "OMIM:201810", "Orphanet:90791", "SCTID:54470008", "UMLS:C0342471", "icd11.foundation:929626064"]}
{"category": ["biolink:Disease"], "description": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.", "id": "MONDO:0008728", "name": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["21-OHD", "classic 21-OHD CAH", "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"], "xref": ["GARD:0012665", "MEDGEN:903755", "MESH:C535979", "NANDO:1200399", "NANDO:2200374", "NCIT:C131087", "OMIM:201910", "Orphanet:90794", "SCTID:124221007", "SCTID:717261006", "UMLS:C4273964"]}
{"category": ["biolink:Disease"], "description": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.", "id": "MONDO:0008729", "name": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAH due to 11-beta-hydroxylase deficiency", "CYP11B1 deficiency", "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"], "xref": ["GARD:0005658", "ICD9:277.6", "MEDGEN:82783", "MESH:C535978", "MedDRA:10000002", "NANDO:1200400", "NANDO:2200372", "NCIT:C131085", "OMIM:202010", "Orphanet:90795", "SCTID:124214007", "UMLS:C0268292", "icd11.foundation:791376680"]}
{"category": ["biolink:Disease"], "description": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.", "id": "MONDO:0008730", "name": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17-alpha-hydroxylase/17,20-lyase deficiency", "CAH due to 17-alpha-hydroxylase deficiency", "combined 17-hydroxylase/17,20-lyase deficiency"], "xref": ["GARD:0001469", "ICD9:277.6", "MEDGEN:82782", "NANDO:1200401", "NANDO:2200373", "OMIM:202110", "Orphanet:90793", "SCTID:124220008", "UMLS:C0268285", "icd11.foundation:587903316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008731", "name": "Familial adrenal hypoplasia with absent pituitary luteinizing hormone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial adrenal hypoplasia with absent pituitary LH", "familial adrenal hypoplasia, miniature type"], "xref": ["GARD:0016839", "MEDGEN:348510", "MESH:C565976", "OMIM:202150", "Orphanet:95700", "UMLS:C1859978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008732", "name": "Adrenal hypoplasia, cytomegalic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adrenal hypoplasia, cytomegalic type"], "xref": ["GARD:0015131", "MEDGEN:348509", "OMIM:202155", "UMLS:C1859977"]}
{"category": ["biolink:Disease"], "description": "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.", "id": "MONDO:0008733", "name": "Familial glucocorticoid deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080620", "GARD:0002498", "MEDGEN:885955", "MESH:C565974", "NCIT:C120446", "OMIMPS:202200", "Orphanet:361", "SCTID:765326001", "UMLS:C4054695", "icd11.foundation:861297039"]}
{"category": ["biolink:Disease"], "description": "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0008734", "name": "Adrenocortical carcinoma, hereditary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["adrenocortical carcinoma, hereditary", "hereditary adrenal cortex carcinoma"], "xref": ["GARD:0015132", "MEDGEN:348508", "MESH:C565972", "OMIM:202300", "UMLS:C1859972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008735", "name": "Adrenocortical unresponsiveness to acth with postreceptor defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["adrenocortical unresponsiveness to ACTH with postreceptor defect"], "xref": ["GARD:0015133", "MEDGEN:348507", "MESH:C565971", "OMIM:202355", "UMLS:C1859971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008736", "name": "Peroxisome biogenesis disorder 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 2B", "peroxisome biogenesis disorder type 2B"], "xref": ["DOID:0080622", "GARD:0015134", "MEDGEN:763148", "NCIT:C155751", "OMIM:202370", "UMLS:C3550234"]}
{"category": ["biolink:Disease"], "description": "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.", "id": "MONDO:0008737", "name": "Congenital afibrinogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:2236", "GARD:0005761", "MEDGEN:749036", "MESH:D000347", "NANDO:2200672", "NCIT:C98130", "NORD:739", "OMIM:202400", "Orphanet:98880", "SCTID:154818001", "UMLS:C2584774"]}
{"category": ["biolink:Disease"], "description": "A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0008738", "name": "Aganglionosis, total intestinal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["aganglionosis, total intestinal", "total intestinal aganglionosis"], "xref": ["MEDGEN:83378", "MESH:C538058", "NANDO:1200460", "NANDO:2200948", "NCIT:C101074", "OMIM:202550", "UMLS:C0345240"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008739", "name": "Agenesis of cerebral white matter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["agenesis of cerebral white matter"], "xref": ["MEDGEN:347986", "OMIM:202600", "UMLS:C1859969"]}
{"category": ["biolink:Disease"], "description": "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.", "id": "MONDO:0008740", "name": "Agnathia-otocephaly complex", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["agnathia-holoprosencephaly-situs inversus syndrome", "agnathia-otocephaly complex", "dysgnathia complex agnathia-holoprosencephaly", "holoprosencephaly-agnathia", "otocephaly"], "xref": ["DOID:0060341", "GARD:0009126", "ICD9:759.89", "MEDGEN:78541", "NCIT:C124568", "OMIM:202650", "Orphanet:990", "SCTID:48180002", "UMLS:C0265242"]}
{"category": ["biolink:Disease"], "description": "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.", "id": "MONDO:0008741", "name": "Pagod syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAGOD syndrome", "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"], "xref": ["GARD:0003086", "MEDGEN:347985", "MESH:C537018", "OMIM:202660", "Orphanet:991", "SCTID:722132007", "UMLS:C1859967"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of severe congenital neutropenia.", "id": "MONDO:0008742", "name": "Autosomal dominant severe congenital neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["severe congenital neutropenia, autosomal dominant"], "xref": ["DOID:0112130", "GARD:0009558", "MEDGEN:1665322", "NCIT:C166155", "Orphanet:486", "UMLS:C4749612"]}
{"category": ["biolink:Disease"], "description": "Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.", "id": "MONDO:0008743", "name": "Stimmler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stimmler syndrome"], "xref": ["GARD:0005026", "MEDGEN:348505", "MESH:C565968", "OMIM:202900", "Orphanet:3199", "SCTID:733072002", "UMLS:C1859965"]}
{"category": ["biolink:Disease"], "description": "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.", "id": "MONDO:0008744", "name": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000588", "MEDGEN:348504", "MESH:C535967", "OMIM:203000", "Orphanet:2007", "UMLS:C1859964"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.", "id": "MONDO:0008745", "name": "Oculocutaneous albinism type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OCA1A", "TYR oculocutaneous albinism", "Tyr oculocutaneous albinism", "oculocutaneous albinism caused by mutation in TYR", "oculocutaneous albinism caused by mutation in Tyr", "oculocutaneous albinism, tyrosinase-negative", "tyrosinase-negative oculocutaneous albinism"], "xref": ["DOID:0070094", "GARD:0016721", "ICD9:270.2", "MEDGEN:1643910", "NCIT:C168731", "OMIM:203100", "Orphanet:79431", "SCTID:6483008", "UMLS:C4551504", "icd11.foundation:1168847652"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.", "id": "MONDO:0008746", "name": "Oculocutaneous albinism type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA2", "albinism, oculocutaneous, type II, modifier of", "oculocutaneous albinism type 2", "oculocutaneous albinism, tyrosinase-positive"], "xref": ["DOID:0070096", "GARD:0004038", "MEDGEN:82810", "MESH:C537730", "OMIM:203200", "Orphanet:79432", "UMLS:C0268495", "icd11.foundation:2019316252"]}
{"category": ["biolink:Disease"], "description": "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.", "id": "MONDO:0008747", "name": "Oculocutaneous albinism type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA3", "Red oculocutaneous albinism", "TYRP1 oculocutaneous albinism", "oculocutaneous albinism caused by mutation in TYRP1", "oculocutaneous albinism type 3", "rufous oculocutaneous albinism", "xanthous oculocutaneous albinism"], "xref": ["DOID:0070097", "GARD:0004039", "ICD9:270.2", "MEDGEN:87450", "MESH:C537731", "OMIM:203290", "OMIM:278400", "Orphanet:79433", "SCTID:63450009", "UMLS:C0342683", "icd11.foundation:1565320806"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.", "id": "MONDO:0008748", "name": "Hermansky-pudlak syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPS1 Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 1", "Hermansky-Pudlak syndrome caused by mutation in HPS1", "Hermansky-Pudlak syndrome type 1"], "xref": ["DOID:0060539", "GARD:0018331", "MEDGEN:419514", "MESH:C538539", "NCIT:C150367", "OMIM:203300", "UMLS:C2931875"]}
{"category": ["biolink:Disease"], "description": "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.", "id": "MONDO:0008749", "name": "Pseudohypoparathyroidism type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010682", "ICD9:275.49", "MEDGEN:444371", "MESH:C548077", "NANDO:1201078", "OMIM:203330", "Orphanet:94090", "SCTID:42183005", "UMLS:C2932717", "icd11.foundation:1650158822"]}
{"category": ["biolink:Disease"], "description": "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.", "id": "MONDO:0008750", "name": "Microcephaly-albinism-digital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Castro Gago-Pombo-Novo syndrome", "microcephaly-albinism-digital anomalies syndrome"], "xref": ["GARD:0003604", "MEDGEN:395372", "MESH:C537322", "OMIM:203340", "Orphanet:2513", "SCTID:719377004", "UMLS:C1859910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008751", "name": "Corticosterone methyloxidase type 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["corticosterone 18-monooxygenase deficiency", "corticosterone methyloxidase type 1 deficiency", "hypoaldosteronism, congenital, due to cmo i deficiency"], "xref": ["DOID:0080626", "GARD:0005660", "MEDGEN:82784", "OMIM:203400", "SCTID:47757001", "UMLS:C0268293"]}
{"category": ["biolink:Disease"], "description": "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.", "id": "MONDO:0008752", "name": "Alexander disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alexander disease", "AxD"], "xref": ["DOID:4252", "GARD:0005774", "MEDGEN:78724", "MESH:D038261", "NANDO:1200554", "NANDO:2200835", "NCIT:C84545", "NORD:749", "OMIM:203450", "Orphanet:58", "SCTID:81854007", "UMLS:C0270726", "icd11.foundation:2023359698"]}
{"category": ["biolink:Disease"], "description": "A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).", "id": "MONDO:0008753", "name": "Alkaptonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alcaptonuria", "alkaptonuria", "hereditary ochronosis", "homogentisate 1,2-dioxygenase deficiency", "homogentisic acid oxidase deficiency"], "xref": ["DOID:9270", "GARD:0005775", "ICD9:270.2", "MEDGEN:1413", "MESH:D000474", "MedDRA:10001689", "NANDO:2200504", "NCIT:C84546", "NORD:750", "OMIM:203500", "Orphanet:56", "SCTID:360378009", "UMLS:C0002066", "icd11.foundation:1761652827"]}
{"category": ["biolink:Disease"], "description": "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.", "id": "MONDO:0008754", "name": "Alopecia - contractures - dwarfism - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACD-intellectual disability syndrome"], "xref": ["GARD:0000605", "MEDGEN:167081", "MESH:C537051", "OMIM:203550", "Orphanet:1005", "UMLS:C0795895"]}
{"category": ["biolink:Disease"], "description": "A Mendelian disease characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.", "id": "MONDO:0008755", "name": "Moynahan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alopecia-epilepsy-intellectual disability syndrome, Moynahan type"], "xref": ["GARD:0000606", "MEDGEN:120535", "MESH:C537052", "OMIM:203600", "Orphanet:2574", "UMLS:C0265328"]}
{"category": ["biolink:Disease"], "description": "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.", "id": "MONDO:0008756", "name": "Alopecia - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Perniola-Krajewska-Carnevale syndrome", "alopecia-intellectual disability syndrome"], "xref": ["DOID:0080627", "GARD:0000612", "MEDGEN:444019", "OMIMPS:203650", "Orphanet:2850", "SCTID:716191002", "UMLS:C2931280"]}
{"category": ["biolink:Disease"], "description": "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.", "id": "MONDO:0008757", "name": "Alopecia universalis congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alopecia universalis congenita", "atrichia, generalised", "atrichia, generalized"], "xref": ["DOID:0050634", "GARD:0000614", "ICD9:704.09", "MEDGEN:349262", "MESH:C537055", "MedDRA:10001767", "OMIM:203655", "Orphanet:701", "SCTID:86166000", "UMLS:C1859877"]}
{"category": ["biolink:Disease"], "description": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.", "id": "MONDO:0008758", "name": "Mitochondrial dna depletion syndrome 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHD", "AHS", "Alper syndrome", "Alper's disease", "Alper's syndrome", "Alpers Disease", "Alpers Huttenlocher disease", "Alpers Huttenlocher syndrome", "Alpers disease", "Alpers progressive infantile poliodystrophy", "Alpers progressive sclerosing poliodystrophy", "Alpers syndrome", "Alpers-Huttenlocher", "Alpers-Huttenlocher syndrome", "mitochondrial DNA depletion syndrome 4A", "mitochondrial DNA depletion syndrome type 4a", "progressive neuronal degeneration of childhood with liver disease"], "xref": ["DOID:0080122", "DOID:1442", "GARD:0005783", "ICD10CM:G31.81", "ICD9:330.8", "MEDGEN:60012", "MedDRA:10062943", "NCIT:C35257", "NORD:752", "OMIM:203700", "Orphanet:726", "SCTID:20415001", "UMLS:C0205710"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.", "id": "MONDO:0008759", "name": "Oxoglutaricaciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-ketoglutarate dehydrogenase deficiency", "oxoglutarate dehydrogenase deficiency"], "xref": ["DOID:0081326", "GARD:0000617", "MEDGEN:414553", "MESH:C536582", "OMIM:203740", "Orphanet:31", "SCTID:733630004", "UMLS:C2752074"]}
{"category": ["biolink:Disease"], "description": "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.", "id": "MONDO:0008760", "name": "Beta-ketothiolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-ketothiolase deficiency", "3-oxothiolase deficiency", "Alpha methylacetoacetic aciduria", "Alpha-methyl-acetoacetyl-CoA thiolase deficiency", "BKT", "T2 deficiency", "beta-ketothiolase deficiency", "mitochondrial acetoacetyl-CoA thiolase deficiency", "mitochondrial acetoacetyl-coenzyme A thiolase deficiency"], "xref": ["DOID:14723", "GARD:0000872", "MEDGEN:280689", "MESH:C535434", "NANDO:1200987", "NANDO:2200493", "NCIT:C98841", "OMIM:203750", "Orphanet:134", "UMLS:C1536500"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.", "id": "MONDO:0008762", "name": "Autosomal recessive alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alport syndrome 2, autosomal recessive", "Alport syndrome, autosomal recessive"], "xref": ["DOID:0110033", "GARD:0000625", "MEDGEN:1648334", "MedDRA:10001843", "OMIM:203780", "Orphanet:88919", "SCTID:717767009", "UMLS:C4746745"]}
{"category": ["biolink:Disease"], "description": "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.", "id": "MONDO:0008763", "name": "Alstrom syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALMS", "ALSS", "Alstrom syndrome", "Alstrom's syndrome", "Alström Syndrome", "Alström syndrome"], "xref": ["DOID:0050473", "GARD:0005787", "ICD9:759.89", "MEDGEN:78675", "MESH:D056769", "MedDRA:10068783", "NCIT:C84549", "NORD:757", "OMIM:203800", "Orphanet:64", "SCTID:63702009", "UMLS:C0268425"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.", "id": "MONDO:0008764", "name": "Leber congenital amaurosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GUCY2D Leber congenital amaurosis", "LCA1", "Leber congenital amaurosis 1", "Leber congenital amaurosis caused by mutation in GUCY2D", "Leber congenital amaurosis type 1"], "xref": ["DOID:0110078", "GARD:0000635", "MEDGEN:419026", "OMIM:204000", "UMLS:C2931258"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.", "id": "MONDO:0008765", "name": "Leber congenital amaurosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA2", "Leber congenital amaurosis 2", "Leber congenital amaurosis caused by mutation in RPE65", "Leber congenital amaurosis type 2", "RPE65 Leber congenital amaurosis"], "xref": ["DOID:0110016", "GARD:0000636", "MEDGEN:348473", "MESH:C536601", "OMIM:204100", "UMLS:C1859844"]}
{"category": ["biolink:Disease"], "description": "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.", "id": "MONDO:0008766", "name": "Amaurosis-hypertrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000637", "MEDGEN:341805", "MESH:C536604", "OMIM:204110", "Orphanet:1021", "SCTID:720983002", "UMLS:C1857588"]}
{"category": ["biolink:Disease"], "description": "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.", "id": "MONDO:0008767", "name": "Neuronal ceroid lipofuscinosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN3", "CLN3 neuronal ceroid lipofuscinosis", "Juvenile CLN3 Disease", "ceroid lipofuscinosis, neuronal, type 3", "neuronal ceroid lipofuscinosis 3", "neuronal ceroid lipofuscinosis caused by mutation in CLN3", "neuronal ceroid lipofuscinosis type 3"], "xref": ["DOID:0110731", "GARD:0005897", "MEDGEN:155549", "NCIT:C61258", "NORD:843", "OMIM:204200", "Orphanet:228346", "UMLS:C0751383"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008768", "name": "Ceroid lipofuscinosis, neuronal, 6b (kufs type)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CLN4A", "CLN6 neuronal ceroid lipofuscinosis", "neuronal ceroid lipofuscinosis caused by mutation in CLN6", "neuronal ceroid lipofuscinosis type 4A"], "xref": ["DOID:0110730", "GARD:0006845", "MEDGEN:1794137", "OMIM:204300", "Orphanet:228340", "Orphanet:700477", "UMLS:C5561927"]}
{"category": ["biolink:Disease"], "description": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.", "id": "MONDO:0008769", "name": "Neuronal ceroid lipofuscinosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN2", "TPP1 neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 2", "neuronal ceroid lipofuscinosis caused by mutation in TPP1", "neuronal ceroid lipofuscinosis type 2"], "xref": ["DOID:0110726", "GARD:0003045", "MEDGEN:406281", "NANDO:1200153", "NANDO:2201242", "NCIT:C85864", "OMIM:204500", "Orphanet:228349", "UMLS:C1876161"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008770", "name": "Amelogenesis imperfecta type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1C", "amelogenesis imperfecta, type 1C"], "xref": ["DOID:0110056", "GARD:0015136", "MEDGEN:388763", "MESH:C567147", "OMIM:204650", "UMLS:C2673923"]}
{"category": ["biolink:Disease"], "description": "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.", "id": "MONDO:0008771", "name": "Amelogenesis imperfecta type 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AI1G", "AIGFS", "ERS", "FAM20A amelogenesis imperfecta", "amelogenesis imperfecta and gingival fibromatosis syndrome", "amelogenesis imperfecta caused by mutation in FAM20A", "amelogenesis imperfecta, type IG (enamel-renal syndrome)", "amelogenesis imperfecta-gingival hyperplasia syndrome", "enamel-renal syndrome", "enamel-renal-gingival syndrome", "ers"], "xref": ["DOID:0110066", "GARD:0000646", "ICD9:520.5", "MEDGEN:419162", "MESH:C538241", "OMIM:204690", "OMIM:614253", "Orphanet:1031", "Orphanet:171836", "SCTID:109477002", "UMLS:C2931783"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.", "id": "MONDO:0008772", "name": "Amelogenesis imperfecta type 2a1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI2A1", "KLK4 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in KLK4", "amelogenesis imperfecta, type IIA1"], "xref": ["DOID:0110057", "GARD:0009495", "MEDGEN:436039", "MESH:C538242", "MESH:C567146", "OMIM:204700", "UMLS:C2673922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008773", "name": "Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis"], "xref": ["MEDGEN:347955", "MESH:C565960", "OMIM:204730", "UMLS:C1859818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008774", "name": "2-aminoadipic 2-oxoadipic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2-aminoadipic 2-oxoadipic aciduria", "AMOXAD", "Ketoadipicaciduria", "alpha-aminoadipic aciduria", "alpha-aminoadipic and alpha-ketoadipic aciduria"], "xref": ["DOID:0111453", "GARD:0016708", "MEDGEN:395350", "MESH:C565453", "OMIM:204750", "OMIM:245130", "Orphanet:79154", "UMLS:C1859817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008775", "name": "Amobarbital, deficient n-hydroxylation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Amobarbital, deficient N-hydroxylation of"], "xref": ["MEDGEN:347241", "MESH:C565959", "OMIM:204800", "UMLS:C1859816"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008776", "name": "Amyloidosis of gingiva and conjunctiva, with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amyloidosis of gingiva and conjunctiva, with intellectual disability", "amyloidosis of gingiva and conjunctiva, with mental retardation"], "xref": ["MEDGEN:347240", "MESH:C565958", "OMIM:204850", "UMLS:C1859815"]}
{"category": ["biolink:Disease"], "description": "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.", "id": "MONDO:0008777", "name": "Gelatinous drop-like corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GDCD", "corneal amyloidosis", "gelatinous drop-like corneal dystrophy", "primary familial amyloidosis of the cornea", "subepithelial amyloidosis of the cornea"], "xref": ["DOID:0060449", "GARD:0009647", "MEDGEN:90939", "MESH:C535480", "NANDO:1201006", "NCIT:C142805", "OMIM:204870", "Orphanet:98957", "UMLS:C0339273", "icd11.foundation:1062815669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008778", "name": "Amyloidosis, cutaneous bullous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amyloidosis, cutaneous bullous"], "xref": ["ICD9:277.39", "MEDGEN:78672", "MESH:C562644", "OMIM:204900", "SCTID:38606009", "UMLS:C0268399"]}
{"category": ["biolink:Disease"], "description": "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.", "id": "MONDO:0008779", "name": "Arthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "synonym": ["Arthrogryposes, congenital multiple", "congenital multiple Arthrogryposes", "congenital multiple arthrogryposis"], "xref": ["EFO:0003857", "MEDGEN:2455", "MESH:D001176", "NCIT:C84572", "UMLS:C0003886"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.", "id": "MONDO:0008780", "name": "Amyotrophic lateral sclerosis type 2, juvenile", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALS2", "ALS2 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 2, juvenile", "amyotrophic lateral sclerosis caused by mutation in ALS2"], "xref": ["DOID:0060194", "GARD:0015137", "MEDGEN:349246", "MESH:C565957", "OMIM:205100", "UMLS:C1859807"]}
{"category": ["biolink:Disease"], "description": "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.", "id": "MONDO:0008781", "name": "Juvenile amyotrophic lateral sclerosis with dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS-dementia complex"], "xref": ["DOID:0110067", "GARD:0024639", "MEDGEN:395347", "MESH:C565956", "OMIM:205200", "UMLS:C1859806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008782", "name": "Amyotrophic lateral sclerosis with polyglucosan bodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["amyotrophic lateral sclerosis with polyglucosan bodies"], "xref": ["GARD:0015138", "MEDGEN:347953", "MESH:C565955", "OMIM:205250", "UMLS:C1859805"]}
{"category": ["biolink:Disease"], "description": "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.", "id": "MONDO:0008783", "name": "Tangier disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP-binding cassette transporter A1 deficiency", "Analphalipoproteinemia", "Tangier disease", "defective adenosine triphosphate-binding cassette transporter A1"], "xref": ["DOID:1388", "GARD:0007731", "MEDGEN:52644", "MESH:D013631", "MedDRA:10051875", "NANDO:1200854", "NCIT:C85182", "NORD:1757", "OMIM:205400", "Orphanet:31150", "SCTID:723579009", "UMLS:C0039292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008785", "name": "Sideroblastic anemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060065", "GARD:0018381", "MEDGEN:899109", "MESH:C567145", "OMIM:205950", "UMLS:C4225425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008786", "name": "Pyridoxine-responsive sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060066", "GARD:0009872", "MEDGEN:395346", "MESH:C565954", "OMIM:206000", "SCTID:191260004", "UMLS:C1859787"]}
{"category": ["biolink:Disease"], "description": "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.", "id": "MONDO:0008787", "name": "Microcytic anemia with liver iron overload", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anemia, hypochromic microcytic, with iron overload type 1"], "xref": ["GARD:0012360", "MEDGEN:812483", "OMIM:206100", "Orphanet:83642", "SCTID:711161006", "UMLS:C3806153"]}
{"category": ["biolink:Disease"], "description": "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.", "id": "MONDO:0008788", "name": "Irida syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IRIDA syndrome", "iron-refractory iron deficiency anaemia", "iron-refractory iron deficiency anemia"], "xref": ["GARD:0010957", "MEDGEN:39081", "MESH:C562385", "OMIM:206200", "Orphanet:209981", "SCTID:722005000", "UMLS:C0085576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008789", "name": "Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane"], "xref": ["GARD:0024640", "MEDGEN:349245", "MESH:C565953", "OMIM:206300", "UMLS:C1859786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008790", "name": "Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism"], "xref": ["GARD:0024641", "MEDGEN:395345", "MESH:C565952", "OMIM:206400", "UMLS:C1859785"]}
{"category": ["biolink:Disease"], "description": "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.", "id": "MONDO:0008791", "name": "Anencephaly 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anencephaly 1", "isolated anencephaly/exencephaly"], "xref": ["GARD:0005808", "ICD9:740.0", "MEDGEN:1794138", "OMIM:206500", "Orphanet:1048", "SCTID:89369001", "UMLS:C5561928"]}
{"category": ["biolink:Disease"], "description": "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.", "id": "MONDO:0008792", "name": "Familial angiolipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017089", "MEDGEN:347235", "MESH:C565951", "OMIM:206550", "Orphanet:199279", "UMLS:C1859784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008793", "name": "Angiomatosis, diffuse corticomeningeal, of divry and van bogaert", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert"], "xref": ["MEDGEN:347234", "MESH:C536367", "OMIM:206570", "UMLS:C1859783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008794", "name": "Anhidrosis, familial generalized, with abnormal or absent sweat glands", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anhidrosis, familial generalized, with abnormal or absent sweat glands"], "xref": ["MEDGEN:895862", "OMIM:206600", "UMLS:C4225670"]}
{"category": ["biolink:Disease"], "description": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.", "id": "MONDO:0008795", "name": "Aniridia-cerebellar ataxia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aniridia Cerebellar Ataxia Mental Deficiency", "GILLESPIE syndrome", "GLSP", "Gillespie syndrome", "aniridia, cerebellar ataxia and mental deficiency", "aniridia, cerebellar ataxia, and intellectual disability", "aniridia, cerebellar ataxia, and mental retardation"], "xref": ["DOID:0111578", "GARD:0000013", "ICD9:759.89", "MEDGEN:96563", "MESH:C536370", "NORD:786", "OMIM:206700", "Orphanet:1065", "SCTID:253176002", "UMLS:C0431401"]}
{"category": ["biolink:Disease"], "description": "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.", "id": "MONDO:0008796", "name": "Aniridia-renal agenesis-psychomotor retardation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sommer-Rathbun-Battles syndrome"], "xref": ["GARD:0000690", "MEDGEN:347952", "MESH:C000598722", "OMIM:206750", "Orphanet:1064", "SCTID:733116005", "UMLS:C1859782"]}
{"category": ["biolink:Disease"], "description": "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.", "id": "MONDO:0008797", "name": "Anodontia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["complete absence of teeth", "developmental absence of tooth", "total anodontia of permanent and deciduous teeth"], "xref": ["DOID:13714", "GARD:0005818", "ICD9:520.0", "MEDGEN:98313", "MESH:D000848", "MedDRA:10002583", "OMIM:206780", "Orphanet:99797", "SCTID:16958000", "UMLS:C0399352", "icd11.foundation:413433873"]}
{"category": ["biolink:Disease"], "description": "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.", "id": "MONDO:0008798", "name": "Nonsyndromic congenital nail disorder 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["RSPO4 isolated congenital anonychia", "isolated congenital anonychia caused by mutation in RSPO4", "nail disorder, nonsyndromic congenital, type 4", "nonsyndromic congenital nail disorder 4", "nonsyndromic congenital nail disorder type 4"], "xref": ["DOID:0050643", "DOID:0080082", "GARD:0016837", "MEDGEN:479530", "MESH:C536377", "OMIM:206800", "Orphanet:94150", "UMLS:C3277900"]}
{"category": ["biolink:Disease"], "description": "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.", "id": "MONDO:0008799", "name": "Anophthalmia/microphthalmia-esophageal atresia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS3", "anophthalmia/microphthalmia-esophageal atresia syndrome", "microphthalmia, syndromic type 3", "syndromic microphthalmia type 3"], "xref": ["DOID:0111801", "GARD:0001443", "ICD9:758.5", "MEDGEN:347232", "OMIM:206900", "Orphanet:77298", "SCTID:698851003", "UMLS:C1859773"]}
{"category": ["biolink:Disease"], "description": "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.", "id": "MONDO:0008800", "name": "Microphthalmia with limb anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MLA", "OAS", "Ophthalmoacromelic syndrome", "Waardenburg anophthalmia syndrome", "anophthalmia-syndactyly syndrome", "microphthalmia with limb anomalies", "ophthalmoacromelic syndrome"], "xref": ["DOID:0060861", "GARD:0000722", "ICD9:755.8", "MEDGEN:154638", "MESH:C537769", "OMIM:206920", "Orphanet:1106", "SCTID:703403003", "UMLS:C0599973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008801", "name": "Anosmia for isobutyric acid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anosmia for isobutyric acid"], "xref": ["MEDGEN:347228", "OMIM:207000", "UMLS:C1859762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008802", "name": "Antithrombin, familial hemorrhagic diathesis due to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["antithrombin, familial hemorrhagic diathesis due to"], "xref": ["MEDGEN:347227", "MESH:C565947", "OMIM:207300", "UMLS:C1859761"]}
{"category": ["biolink:Disease"], "description": "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.", "id": "MONDO:0008803", "name": "Antley-bixler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050462", "DOID:0081289", "GARD:0005826", "MEDGEN:1714404", "NANDO:1200669", "NANDO:2200975", "NORD:792", "Orphanet:83", "SCTID:62964007", "UMLS:C5234850", "icd11.foundation:2027710139"]}
{"category": ["biolink:Disease"], "description": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.", "id": "MONDO:0008806", "name": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Johnson-Munson syndrome"], "xref": ["GARD:0003051", "MEDGEN:347225", "MESH:C535881", "OMIM:207620", "Orphanet:1112", "SCTID:733118006", "UMLS:C1859754"]}
{"category": ["biolink:Disease"], "description": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0008808", "name": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bronspiegel-Zelnick syndrome", "autosomal recessive aplasia cutis"], "xref": ["GARD:0000753", "MEDGEN:349241", "MESH:C537788", "OMIM:207731", "Orphanet:1116", "SCTID:720500008", "UMLS:C1859753"]}
{"category": ["biolink:Disease"], "description": "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0008809", "name": "Polyneuropathy-hand defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hamanishi Ueba Tsuji syndrome", "Hamanishi-Ueba-Tsuji syndrome"], "xref": ["GARD:0002589", "MEDGEN:349240", "MESH:C535624", "OMIM:207740", "Orphanet:2926", "UMLS:C1859752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008810", "name": "Familial apolipoprotein c-ii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial apoC-II deficiency", "familial apolipoprotein C-II deficiency", "hyperlipoproteinemia, type IB"], "xref": ["DOID:0111418", "GARD:0000759", "MEDGEN:328375", "OMIM:207750", "Orphanet:309020", "SCTID:33513003", "UMLS:C1720779", "icd11.foundation:877401371"]}
{"category": ["biolink:Disease"], "description": "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.", "id": "MONDO:0008811", "name": "Xk aprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Garcia-Lurie syndrome", "XK-aprosencephaly"], "xref": ["GARD:0000424", "MEDGEN:167087", "MESH:C536767", "OMIM:207770", "Orphanet:3469", "SCTID:277921008", "UMLS:C0795952", "icd11.foundation:1805259428"]}
{"category": ["biolink:Disease"], "description": "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.", "id": "MONDO:0008812", "name": "Aredyld syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acrorenal defect-ectodermal dysplasia-diabetes syndrome"], "xref": ["GARD:0008509", "ICD9:753.3", "MEDGEN:87435", "MESH:C537427", "OMIM:207780", "Orphanet:1133", "SCTID:237610008", "UMLS:C0342280", "icd11.foundation:2007371732"]}
{"category": ["biolink:Disease"], "description": "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)", "id": "MONDO:0008813", "name": "Arachnoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000017", "MEDGEN:86860", "MESH:D016080", "MedDRA:10049005", "NCIT:C3455", "Orphanet:2356", "SCTID:33595009", "UMLS:C0078981"]}
{"category": ["biolink:Disease"], "description": "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.", "id": "MONDO:0008814", "name": "Arginase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["arginase deficiency", "argininemia", "hyperargininemia"], "xref": ["DOID:9278", "GARD:0005840", "ICD10CM:E72.21", "MEDGEN:78688", "MESH:D020162", "MedDRA:10062695", "NANDO:1200807", "NANDO:2200482", "NCIT:C84568", "OMIM:207800", "Orphanet:90", "SCTID:23501004", "UMLS:C0268548", "icd11.foundation:1619102598"]}
{"category": ["biolink:Disease"], "description": "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.", "id": "MONDO:0008815", "name": "Argininosuccinic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASA deficiency", "ASL deficiency", "argininosuccinase deficiency", "argininosuccinatelyase deficiency", "argininosuccinic acid lyase deficiency", "argininosuccinic aciduria"], "xref": ["DOID:14755", "GARD:0005843", "MEDGEN:78687", "MESH:D056807", "MedDRA:10058299", "NANDO:1200806", "NANDO:2200481", "NCIT:C84569", "NORD:802", "OMIM:207900", "Orphanet:23", "SCTID:41013004", "UMLS:C0268547", "icd11.foundation:439383288"]}
{"category": ["biolink:Disease"], "description": "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.", "id": "MONDO:0008816", "name": "Chiari malformation type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["Arnold-Chiari malformation type 2", "Arnold-Chiari malformation type II", "Chiari malformation type 2", "Chiari malformation type II"], "xref": ["GARD:0009232", "MEDGEN:108222", "MedDRA:10056945", "OMIM:207950", "Orphanet:1136", "SCTID:373587001", "UMLS:C0555206"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.", "id": "MONDO:0008817", "name": "Arterial calcification, generalized, of infancy, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["ENPP1 arterial calcification of infancy", "arterial calcification of infancy caused by mutation in ENPP1", "arterial calcification, generalized, of infancy, 1", "arterial calcification, generalized, of infancy, type 1", "generalised arterial calcification of infancy 1", "generalized arterial calcification of infancy 1"], "xref": ["GARD:0024642", "MEDGEN:1631685", "NCIT:C128805", "OMIM:208000", "UMLS:C4551985"]}
{"category": ["biolink:Disease"], "description": "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.", "id": "MONDO:0008818", "name": "Arterial tortuosity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["arterial tortuosity syndrome"], "xref": ["DOID:0050645", "GARD:0000774", "ICD10CM:Q87.82", "MEDGEN:347942", "MESH:C565942", "NORD:803", "OMIM:208050", "Orphanet:3342", "SCTID:458432002", "UMLS:C1859726", "icd11.foundation:371764699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008819", "name": "Arteriosclerosis, severe juvenile", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arteriosclerosis, severe juvenile"], "xref": ["MEDGEN:395330", "MESH:C565941", "OMIM:208060", "UMLS:C1859725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008821", "name": "Arthrogryposis, distal, with intellectual disability and characteristic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arthrogryposis, distal, with intellectual disability and characteristic facies", "arthrogryposis, distal, with mental retardation and characteristic facies"], "xref": ["MEDGEN:1844539", "MESH:C565940", "OMIM:208081", "UMLS:C5882782"]}
{"category": ["biolink:Disease"], "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.", "id": "MONDO:0008822", "name": "Arthrogryposis, renal dysfunction, and cholestasis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome", "arthrogryposis, renal dysfunction, and cholestasis 1", "arthrogryposis, renal dysfunction, and cholestasis type 1", "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B"], "xref": ["DOID:0111353", "GARD:0015139", "MEDGEN:347219", "OMIM:208085", "UMLS:C1859722"]}
{"category": ["biolink:Disease"], "description": "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.", "id": "MONDO:0008823", "name": "Arthrogryposis multiplex congenita 2, neurogenic type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMCN", "neurogenic arthrogryposis multiplex congenita"], "xref": ["DOID:0090124", "GARD:0000790", "MEDGEN:1725686", "MESH:C536614", "OMIM:208100", "Orphanet:1143", "SCTID:715316005", "UMLS:C5435650"]}
{"category": ["biolink:Disease"], "description": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.", "id": "MONDO:0008824", "name": "Fetal akinesia deformation sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["FADS", "fetal akinesia deformation sequence"], "xref": ["DOID:0111375", "GARD:0009634", "ICD9:754.89", "MESH:C536647", "NCIT:C129071", "OMIMPS:208150", "SCTID:401138005"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.", "id": "MONDO:0008825", "name": "Arthrogryposis multiplex congenita-whistling face syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Illum syndrome"], "xref": ["GARD:0000792", "MEDGEN:349231", "MESH:C538401", "OMIM:208155", "Orphanet:1150", "SCTID:720514008", "UMLS:C1859711"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.", "id": "MONDO:0008826", "name": "Arthrogryposis-hyperkeratosis syndrome, lethal form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Johnston-Aarons-Schelley syndrome"], "xref": ["GARD:0003053", "MEDGEN:349230", "MESH:C535883", "OMIM:208158", "Orphanet:1485", "SCTID:726620005", "UMLS:C1859710"]}
{"category": ["biolink:Disease"], "description": "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.", "id": "MONDO:0008827", "name": "Progressive pseudorheumatoid arthropathy of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["progressive pseudorheumatoid arthropathy of childhood", "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"], "xref": ["DOID:0090004", "GARD:0009184", "ICD9:756.9", "MEDGEN:96581", "MESH:C535387", "OMIM:208230", "Orphanet:1159", "SCTID:254065005", "UMLS:C0432215", "icd11.foundation:280808713"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.", "id": "MONDO:0008828", "name": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACP", "CACP syndrome", "Jacobs syndrome", "PAC syndrome", "arthropathy-camptodactyly syndrome", "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", "camptodactyly-arthropathy-pericarditis syndrome", "pericarditis-arthropathy-camptodactyly syndrome"], "xref": ["DOID:0090127", "EFO:0009028", "GARD:0000306", "MEDGEN:349226", "MESH:C537560", "OMIM:208250", "Orphanet:2848", "UMLS:C1859690"]}
{"category": ["biolink:Disease"], "description": "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.", "id": "MONDO:0008829", "name": "Chylous ascites", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001359", "ICD9:457.8", "MEDGEN:969", "MESH:D002915", "MedDRA:10003446", "NCIT:C34482", "OMIM:208300", "Orphanet:1160", "SCTID:52985009", "UMLS:C0008732", "icd11.foundation:768846885"]}
{"category": ["biolink:Disease"], "description": "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).", "id": "MONDO:0008830", "name": "Aspartylglucosaminuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aspartylglycosaminuria", "aspartylglucosaminidase deficiency", "aspartylglucosaminuria", "aspartylglycosaminuria", "glycosylasparaginase deficiency"], "xref": ["DOID:0050461", "GARD:0005854", "MEDGEN:78649", "MESH:D054880", "MedDRA:10068220", "NANDO:1200133", "NANDO:2200555", "NCIT:C61273", "NORD:813", "OMIM:208400", "Orphanet:93", "SCTID:54954004", "UMLS:C0268225", "icd11.foundation:2143470200"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy associated with variation in the region 15q13.", "id": "MONDO:0008831", "name": "Asphyxiating thoracic dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATD1", "SRTD1", "asphyxiating thoracic dystrophy 1", "asphyxiating thoracic dystrophy type 1", "short-rib thoracic dysplasia 1 with or without polydactyly"], "xref": ["DOID:0110085", "GARD:0015140", "MEDGEN:1648057", "OMIM:208500", "UMLS:C4551856"]}
{"category": ["biolink:Disease"], "description": "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.", "id": "MONDO:0008832", "name": "Right atrial isomerism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ivemark Syndrome", "Ivemark syndrome", "asplenia with cardiovascular anomalies", "right atrial isomerism", "right atrial isomerism (disease)", "right atrial isomerism (ivemark)"], "xref": ["DOID:0060856", "GARD:0006795", "HP:0011536", "MEDGEN:465274", "MedDRA:10068335", "NORD:1305", "OMIM:208530", "Orphanet:97548", "UMLS:C3178806"]}
{"category": ["biolink:Disease"], "description": "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.", "id": "MONDO:0008833", "name": "Renal-hepatic-pancreatic dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHP3 renal-hepatic-pancreatic dysplasia", "renal-hepatic-pancreatic dysplasia 1", "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3", "renal-hepatic-pancreatic dysplasia type 1"], "xref": ["GARD:0018431", "MEDGEN:811626", "OMIM:208540", "UMLS:C3715199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008834", "name": "Asthma, nasal polyps, and aspirin intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["asthma, nasal polyps, and aspirin intolerance"], "xref": ["DOID:0111579", "MEDGEN:347198", "OMIM:208550", "UMLS:C1859648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008835", "name": "Asthma, short stature, and elevated iga", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["asthma, short stature, and elevated IgA"], "xref": ["MEDGEN:395313", "MESH:C565934", "OMIM:208600", "UMLS:C1859647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008836", "name": "Ataxia with myoclonic epilepsy and presenile dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ataxia with myoclonic epilepsy and presenile dementia"], "xref": ["MEDGEN:347924", "MESH:C565933", "OMIM:208700", "UMLS:C1859646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008837", "name": "Ataxia, deafness, and cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ataxia, deafness, and cardiomyopathy"], "xref": ["MEDGEN:395312", "MESH:C565932", "OMIM:208750", "UMLS:C1859645"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.", "id": "MONDO:0008838", "name": "Ataxia - deafness - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reardon-Baraitser syndrome", "ataxia-hearing loss-intellectual disability syndrome"], "xref": ["GARD:0004644", "MEDGEN:208659", "MESH:C535295", "OMIM:208850", "Orphanet:1188", "SCTID:720517001", "UMLS:C0796045", "icd11.foundation:2133046984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008839", "name": "Ataxia-microcephaly-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ataxia-microcephaly-cataract syndrome"], "xref": ["MEDGEN:167098", "MESH:C563086", "OMIM:208870", "UMLS:C0796056"]}
{"category": ["biolink:Disease"], "description": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.", "id": "MONDO:0008840", "name": "Ataxia telangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Louis-Bar syndrome", "ataxia - telangiectasia", "ataxia telangiectasia", "ataxia telangiectasia syndrome"], "xref": ["DOID:12704", "GARD:0005862", "ICD9:334.8", "MEDGEN:439", "MESH:D001260", "MedDRA:10003594", "NANDO:1200331", "NANDO:2200705", "NCIT:C2887", "NORD:816", "OMIM:208900", "Orphanet:100", "SCTID:68504005", "UMLS:C0004135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008841", "name": "Ataxia-telangiectasia with generalized skin pigmentation and early death", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ataxia-telangiectasia with generalized skin pigmentation and early death"], "xref": ["GARD:0015141", "MEDGEN:395306", "MESH:C565930", "OMIM:208910", "UMLS:C1859615"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.", "id": "MONDO:0008842", "name": "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AOA1", "APTX oculomotor apraxia or related oculomotor disease", "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "oculomotor apraxia or related oculomotor disease caused by mutation in APTX"], "xref": ["DOID:0050754", "GARD:0009283", "MEDGEN:395301", "MESH:C538013", "NANDO:1200051", "OMIM:208920", "Orphanet:1168", "UMLS:C1859598"]}
{"category": ["biolink:Disease"], "description": "A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.", "id": "MONDO:0008843", "name": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Feigenbaum-Bergeron-Richardson syndrome"], "xref": ["GARD:0002279", "MEDGEN:349198", "MESH:C565928", "OMIM:209010", "Orphanet:1192", "SCTID:720519003", "UMLS:C1859596"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008844", "name": "Athrombia, essential", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Athrombia, essential"], "xref": ["MEDGEN:349197", "MESH:C565927", "OMIM:209050", "UMLS:C1859595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008845", "name": "Atonic-astatic syndrome of foerster", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atonic-astatic syndrome of Foerster"], "xref": ["MEDGEN:395300", "MESH:C565926", "OMIM:209100", "UMLS:C1859594"]}
{"category": ["biolink:Disease"], "description": "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.", "id": "MONDO:0008846", "name": "Atransferrinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atransferrinemia", "congenital atransferrinemia", "congenital hypotransferrinemia", "familial hypotransferrinemia", "hereditary atransferrinemia"], "xref": ["DOID:0050649", "GARD:0009595", "MEDGEN:105489", "MESH:C538259", "NANDO:2100180", "NANDO:2200617", "NCIT:C125693", "NORD:819", "OMIM:209300", "Orphanet:1195", "SCTID:111571009", "UMLS:C0521802"]}
{"category": ["biolink:Disease"], "description": "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.", "id": "MONDO:0008847", "name": "Atrichia with papular lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atrichia with papular lesions", "papular atrichia"], "xref": ["DOID:0060689", "GARD:0016762", "MEDGEN:395299", "MESH:C565924", "OMIM:209500", "Orphanet:86819", "SCTID:715963002", "UMLS:C1859592"]}
{"category": ["biolink:Disease"], "description": "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.", "id": "MONDO:0008848", "name": "Atrioventricular dissociation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["atrioventricular dissociation", "atrioventricular dissociation (disease)"], "xref": ["HP:0011709", "ICD9:426.89", "MEDGEN:2496", "MESH:D006327", "OMIM:209600", "SCTID:50799005", "UMLS:C0004331", "icd11.foundation:268503599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008849", "name": "Atrophoderma vermiculata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atrophoderma vermiculata", "folliculitis ulerythematosa reticulate"], "xref": ["DOID:0080756", "GARD:0009744", "ICD9:701.8", "MEDGEN:82666", "OMIM:209700", "Orphanet:79100", "SCTID:2736005", "UMLS:C0263429"]}
{"category": ["biolink:Disease"], "description": "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.", "id": "MONDO:0008850", "name": "Cooper-jabs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aural atresia-multiple congenital anomalies-intellectual disability syndrome"], "xref": ["GARD:0016567", "MEDGEN:347912", "MESH:C565923", "OMIM:209770", "Orphanet:1488", "SCTID:720748007", "UMLS:C1859591"]}
{"category": ["biolink:Disease"], "description": "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.", "id": "MONDO:0008853", "name": "Barber-say syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Barber-Say syndrome", "Brown Séquard Syndrome", "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"], "xref": ["DOID:0060549", "GARD:0000819", "MEDGEN:230818", "MESH:C537908", "NORD:875", "OMIM:209885", "Orphanet:1231", "SCTID:408537003", "UMLS:C1319466", "icd11.foundation:37248895"]}
{"category": ["biolink:Disease"], "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.", "id": "MONDO:0008854", "name": "Bardet-biedl syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["BBS1", "Bardet-Biedl syndrome 1", "Bardet-Biedl syndrome 1, modifier of", "Bardet-Biedl syndrome type 1"], "xref": ["DOID:0110123", "GARD:0000820", "MEDGEN:422452", "MESH:C537909", "OMIM:209900", "UMLS:C2936862"]}
{"category": ["biolink:Disease"], "description": "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.", "id": "MONDO:0008855", "name": "Mhc class ii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLA class 2-negative SCID", "HLA class 2-negative severe combined immunodeficiency", "MHC class II expression deficiency", "immunodeficiency by defective expression of HLA class type 2", "major histocompatibility complex class II expression deficiency"], "xref": ["DOID:5812", "GARD:0000824", "MEDGEN:1781237", "MESH:C537079", "NANDO:1200329", "NANDO:2200702", "NCIT:C176823", "NCIT:C3895", "OMIMPS:209920", "Orphanet:572", "SCTID:71904008", "UMLS:C5447452", "icd11.foundation:2021339495"]}
{"category": ["biolink:Disease"], "description": "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.", "id": "MONDO:0008857", "name": "Beemer-ertbruggen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lethal hydrocephalus-cardiac malformation-dense bones syndrome"], "xref": ["GARD:0000846", "MEDGEN:347174", "MESH:C537668", "OMIM:209970", "Orphanet:1237", "SCTID:717859007", "UMLS:C1859526"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.", "id": "MONDO:0008858", "name": "Behr syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Behr syndrome"], "xref": ["DOID:0111580", "GARD:0000849", "MEDGEN:66358", "MESH:C537669", "NCIT:C177251", "OMIM:210000", "Orphanet:1239", "SCTID:718221007", "UMLS:C0221061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008859", "name": "Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification"], "xref": ["MEDGEN:347170", "MESH:C565905", "OMIM:210050", "UMLS:C1859519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008860", "name": "Beta-aminoisobutyric acid, urinary excretion of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["beta-aminoisobutyric acid, urinary excretion of"], "xref": ["MEDGEN:347169", "MESH:C565904", "OMIM:210100", "UMLS:C1859518"]}
{"category": ["biolink:Disease"], "description": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.", "id": "MONDO:0008861", "name": "3-methylcrotonyl-coa carboxylase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["3-Methylcrotonyl-Coa carboxylase 1 deficiency", "3-methylcrotonyl-CoA carboxylase 1 deficiency", "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1", "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency"], "xref": ["DOID:0080579", "GARD:0005665", "MESH:C535308", "OMIM:210200"]}
{"category": ["biolink:Disease"], "description": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.", "id": "MONDO:0008862", "name": "3-methylcrotonyl-coa carboxylase 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["3-Methylcrotonyl-CoA carboxylase 2 deficiency", "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2", "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency"], "xref": ["DOID:0080580", "GARD:0009151", "MEDGEN:347898", "MESH:C535309", "OMIM:210210", "UMLS:C1859499"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.", "id": "MONDO:0008863", "name": "Sitosterolemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["phytosterolemia", "sitosterolemia"], "xref": ["DOID:0090019", "GARD:0007653", "MEDGEN:87466", "MESH:C537345", "MedDRA:10063985", "NANDO:1200853", "NCIT:C125694", "NORD:1911", "OMIMPS:210250", "OMIMPS:215250", "Orphanet:101022", "Orphanet:2882", "SCTID:238104009", "UMLS:C0342907"]}
{"category": ["biolink:Disease"], "description": "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.", "id": "MONDO:0008864", "name": "Biemond syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Biemond syndrome type 2", "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome"], "xref": ["GARD:0000882", "MEDGEN:347159", "MESH:C565902", "OMIM:210350", "Orphanet:141333", "SCTID:717887003", "UMLS:C1859487"]}
{"category": ["biolink:Disease"], "description": "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.", "id": "MONDO:0008865", "name": "Bietti crystalline corneoretinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCD", "Bietti crystalline corneoretinal dystrophy", "Bietti crystalline retinopathy"], "xref": ["DOID:0050664", "GARD:0010050", "MEDGEN:347895", "MESH:C535440", "NCIT:C179299", "OMIM:210370", "Orphanet:41751", "SCTID:312927001", "UMLS:C1859486"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of bifid nose.", "id": "MONDO:0008866", "name": "Bifid nose, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive bifid nose", "bifid nose, autosomal recessive"], "xref": ["GARD:0015142", "MEDGEN:854359", "OMIM:210400", "UMLS:C3887497"]}
{"category": ["biolink:Disease"], "description": "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.", "id": "MONDO:0008867", "name": "Biliary atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atresia of bile ducts", "biliary atresia, congenital", "congenital biliary atresia", "isolated atresia of bile ducts", "non-syndromic biliary atresia"], "xref": ["DOID:13608", "GARD:0012010", "ICD10CM:Q44.2", "ICD9:751.61", "MEDGEN:14117", "MESH:D001656", "MedDRA:10003650", "NANDO:1200913", "NANDO:2200930", "NCIT:C34421", "NORD:1114", "Orphanet:30391", "SCTID:77480004", "UMLS:C0005411", "icd11.foundation:645741117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008868", "name": "Biliary malformation with renal tubular insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["biliary malformation with renal tubular insufficiency"], "xref": ["MEDGEN:98009", "MESH:C537726", "OMIM:210550", "SCTID:235914003", "UMLS:C0400972"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.", "id": "MONDO:0008869", "name": "Seckel syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATR Seckel syndrome", "SCKL1", "Seckel syndrome 1", "Seckel syndrome 3", "Seckel syndrome caused by mutation in ATR", "Seckel syndrome type 1"], "xref": ["DOID:0070007", "GARD:0015143", "MEDGEN:1637056", "OMIM:210600", "UMLS:C4551474"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.", "id": "MONDO:0008870", "name": "Bird headed-dwarfism, montreal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000895", "MEDGEN:347890", "MESH:C535448", "OMIM:210700", "Orphanet:2617", "UMLS:C1859468"]}
{"category": ["biolink:Disease"], "description": "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.", "id": "MONDO:0008871", "name": "Microcephalic osteodysplastic primordial dwarfism type i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MOPD 1", "MOPD1", "Taybi-Linder syndrome", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", "low-birth-weight dwarfism with skeletal dysplasia", "microcephalic osteodysplastic primordial dwarfism, type 1", "microcephalic osteodysplastic primordial dwarfism, type I", "osteodysplastic primordial dwarfism, type 1"], "xref": ["DOID:0060608", "GARD:0015144", "MEDGEN:347149", "OMIM:210710", "SCTID:254102008", "UMLS:C1859452"]}
{"category": ["biolink:Disease"], "description": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.", "id": "MONDO:0008872", "name": "Microcephalic osteodysplastic primordial dwarfism type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOPD type II", "Majewski osteodysplastic primordial dwarfism type II"], "xref": ["DOID:0060609", "GARD:0009844", "MEDGEN:96587", "MESH:C565898", "OMIM:210720", "Orphanet:2637", "SCTID:254103003", "UMLS:C0432246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008873", "name": "Microcephalic osteodysplastic primordial dwarfism, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0015145", "MEDGEN:349167", "MESH:C537320", "OMIM:210730", "UMLS:C1859439"]}
{"category": ["biolink:Disease"], "description": "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.", "id": "MONDO:0008874", "name": "Bangstad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bangstad syndrome", "ataxia-diabetes-goiter-gonadal insufficiency syndrome"], "xref": ["GARD:0000812", "ICD9:759.89", "MEDGEN:90978", "MESH:C537902", "OMIM:210740", "Orphanet:1227", "SCTID:237614004", "UMLS:C0342284"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.", "id": "MONDO:0008875", "name": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Frydman-Cohen-Karmon syndrome"], "xref": ["GARD:0000905", "MEDGEN:347880", "MESH:C536235", "OMIM:210745", "Orphanet:2057", "SCTID:717914000", "UMLS:C1859432"]}
{"category": ["biolink:Disease"], "description": "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.", "id": "MONDO:0008876", "name": "Bloom syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSyn", "Bloom syndrome", "Bloom-Torre-Machacek syndrome", "congenital telangiectatic erythema syndrome"], "xref": ["DOID:2717", "GARD:0000915", "ICD10CM:Q82.2", "ICD9:757.39", "MEDGEN:2685", "MESH:D001816", "NANDO:1200333", "NANDO:2200707", "NCIT:C2903", "NORD:863", "OMIM:210900", "Orphanet:125", "SCTID:4434006", "UMLS:C0005859", "icd11.foundation:1838213890"]}
{"category": ["biolink:Disease"], "description": "Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.", "id": "MONDO:0008877", "name": "Blue diaper syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Drummond syndrome", "blue diaper syndrome", "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"], "xref": ["GARD:0005939", "MEDGEN:75685", "MESH:C536239", "NORD:864", "OMIM:211000", "Orphanet:94086", "SCTID:59531002", "UMLS:C0268478", "icd11.foundation:292681007"]}
{"category": ["biolink:Disease"], "description": "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.", "id": "MONDO:0008878", "name": "Bone dysplasia, lethal holmgren type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type"], "xref": ["GARD:0000922", "MEDGEN:347872", "MESH:C565896", "OMIM:211120", "Orphanet:1842", "SCTID:732249002", "UMLS:C1859407"]}
{"category": ["biolink:Disease"], "description": "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.", "id": "MONDO:0008879", "name": "Bowen-conradi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BWCNS", "Bowen Hutterite Syndrome", "Bowen Hutterite syndrome (formerly)", "Bowen Hutterite syndrome, formerly", "Bowen syndrome, Hutterite type", "Bowen-Conradi Hutterite syndrome", "Bowen-Conradi syndrome"], "xref": ["DOID:0050684", "GARD:0005950", "ICD9:759.89", "MEDGEN:349160", "MESH:C537081", "NORD:869", "OMIM:211180", "Orphanet:1270", "SCTID:711153001", "UMLS:C1859405", "icd11.foundation:1713786719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008880", "name": "Bowen syndrome of multiple malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bowen syndrome", "Bowen syndrome of multiple malformations"], "xref": ["MEDGEN:349159", "MESH:C538164", "OMIM:211200", "Orphanet:1271", "UMLS:C1859404"]}
{"category": ["biolink:Disease"], "description": "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.", "id": "MONDO:0008881", "name": "Kyphomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["kyphomelic dysplasia"], "xref": ["DOID:0061155", "GARD:0010149", "ICD9:733.29", "MEDGEN:140930", "MESH:C538128", "OMIM:211350", "Orphanet:1801", "SCTID:254096001", "UMLS:C0432239", "icd11.foundation:268821879"]}
{"category": ["biolink:Disease"], "description": "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.", "id": "MONDO:0008882", "name": "Congenital bowing of long bones", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000953", "MEDGEN:395251", "MedDRA:10054064", "OMIM:211355", "Orphanet:2292", "SCTID:716098006", "UMLS:C1859394", "icd11.foundation:1261565213"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008883", "name": "Brachydactyly, type a2, with microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachydactyly, type A2, with microcephaly"], "xref": ["MEDGEN:395250", "MESH:C565894", "OMIM:211369", "UMLS:C1859393"]}
{"category": ["biolink:Disease"], "description": "A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.", "id": "MONDO:0008884", "name": "Oculoosteocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM", "anodontia-hypotrichosis syndrome", "brachymetapody anodontia hypotrichosis albinoidism", "oculoosteocutaneous syndrome"], "xref": ["GARD:0000992", "MEDGEN:347867", "MESH:C565893", "OMIM:211370", "Orphanet:2713", "SCTID:722061006", "UMLS:C1859385"]}
{"category": ["biolink:Disease"], "description": "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.", "id": "MONDO:0008885", "name": "Elsahy-waters syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSG syndrome", "ELSAHY-Waters syndrome", "ESWS", "Elsahy-Waters syndrome", "brachioskeletogenital syndrome", "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss", "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss", "hypospadias-hypertelorism-coloboma and deafness syndrome"], "xref": ["DOID:0080631", "GARD:0000955", "MEDGEN:923028", "MESH:C537084", "MESH:C566373", "OMIM:211380", "OMIM:603463", "Orphanet:1299", "Orphanet:157788", "SCTID:719097002", "UMLS:C0809936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008886", "name": "Sabinas brittle hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sabinas brittle hair syndrome", "brittle hair syndrome, Sabinas type"], "xref": ["DOID:0111874", "MEDGEN:163238", "MESH:C536320", "OMIM:211390", "Orphanet:3123", "UMLS:C0796271", "icd11.foundation:1722502589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008887", "name": "Bronchiectasis with or without elevated sweat chloride 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["bronchiectasis with or without elevated sweat chloride 1", "bronchiectasis with or without elevated sweat chloride 1, modifier of", "bronchiectasis with or without elevated sweat chloride type 1"], "xref": ["DOID:0080526", "GARD:0018054", "MEDGEN:440868", "MESH:C567618", "OMIM:211400", "UMLS:C2749757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008888", "name": "Williams-campbell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Williams-Campbell syndrome"], "xref": ["GARD:0021731", "ICD9:748.3", "MEDGEN:137939", "NANDO:2201040", "OMIM:211450", "Orphanet:411501", "SCTID:54203008", "UMLS:C0340231", "icd11.foundation:766574679"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.", "id": "MONDO:0008889", "name": "Thromboangiitis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Buerger's Disease", "Buerger's disease", "thromboangiitis obliterans", "thromboangiitis obliterans [Buerger's disease]"], "xref": ["DOID:12918", "EFO:1001211", "GARD:0005969", "ICD10CM:I73.1", "ICD9:443.1", "MEDGEN:21531", "MESH:D013919", "MedDRA:10043540", "NANDO:1200266", "NCIT:C35070", "NORD:880", "OMIM:211480", "Orphanet:36258", "SCTID:52403007", "UMLS:C0040021", "icd11.foundation:1000683110"]}
{"category": ["biolink:Disease"], "description": "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.", "id": "MONDO:0008890", "name": "Progressive bulbar palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:681", "EFO:0003783", "GARD:0010928", "ICD10CM:G12.22", "ICD9:335.22", "MEDGEN:18290", "MESH:D010244", "NCIT:C85026", "SCTID:54304004", "UMLS:C0030442", "icd11.foundation:1143049440"]}
{"category": ["biolink:Disease"], "description": "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.", "id": "MONDO:0008891", "name": "Riboflavin transporter deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brown-Vialetto-van Laere syndrome", "Fazio-Londe syndrome", "disorder of riboflavin transmembrane transporter activity", "riboflavin transmembrane transporter activity disease", "sensorineural hearing loss-pontobulbar palsy syndrome"], "xref": ["DOID:0050694", "GARD:0009993", "MEDGEN:1634394", "MESH:C537111", "NORD:1960", "OMIMPS:211530", "Orphanet:97229", "SCTID:699866005", "UMLS:C4551777"]}
{"category": ["biolink:Disease"], "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.", "id": "MONDO:0008892", "name": "Progressive familial intrahepatic cholestasis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Byler disease", "FIC1 deficiency", "PFIC1", "cholestasis, progressive familial intrahepatic 1", "cholestasis, progressive familial intrahepatic, type 1"], "xref": ["DOID:0070226", "GARD:0009802", "MEDGEN:1645830", "NANDO:1201043", "OMIM:211600", "Orphanet:79306", "UMLS:C4551898", "icd11.foundation:1414850183"]}
{"category": ["biolink:Disease"], "description": "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.", "id": "MONDO:0008893", "name": "C syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C syndrome", "OTCS", "Opitz C trigonocephaly", "Opitz trigonocephaly C syndrome", "Opitz trigonocephaly syndrome", "trigonocephaly C syndrome"], "xref": ["DOID:0111581", "GARD:0005978", "MEDGEN:167105", "MESH:C537418", "NORD:882", "OMIM:211750", "Orphanet:1308", "SCTID:715409005", "UMLS:C0796095", "icd11.foundation:1482041278"]}
{"category": ["biolink:Disease"], "description": "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.", "id": "MONDO:0008894", "name": "Cataract-hypertrichosis-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAHMR syndrome"], "xref": ["GARD:0001052", "MEDGEN:167117", "MESH:C537959", "OMIM:211770", "Orphanet:1375", "SCTID:722379001", "UMLS:C0796282"]}
{"category": ["biolink:Disease"], "description": "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.", "id": "MONDO:0008895", "name": "Hereditary arterial and articular multiple calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CALJA", "calcification of joints and arteries"], "xref": ["DOID:0111582", "GARD:0010762", "MEDGEN:347132", "MESH:C565891", "OMIM:211800", "Orphanet:289601", "SCTID:718602007", "UMLS:C1859372"]}
{"category": ["biolink:Disease"], "description": "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.", "id": "MONDO:0008896", "name": "Campomelia, cumming type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["campomelia, Cumming type"], "xref": ["GARD:0001061", "MEDGEN:347864", "MESH:C537966", "OMIM:211890", "Orphanet:1318", "SCTID:720599002", "UMLS:C1859371", "icd11.foundation:152223075"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.", "id": "MONDO:0008898", "name": "Camptodactyly syndrome, guadalajara type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001067", "MEDGEN:395241", "MESH:C537970", "OMIM:211910", "Orphanet:1327", "SCTID:720602007", "UMLS:C1859359"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0008899", "name": "Camptodactyly syndrome, guadalajara type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001068", "MEDGEN:419870", "MESH:C567138", "OMIM:211920", "Orphanet:1326", "SCTID:720603002", "UMLS:C2931680"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.", "id": "MONDO:0008900", "name": "Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia"], "xref": ["GARD:0001064", "MEDGEN:1848853", "MESH:C537974", "OMIM:211930", "Orphanet:1321", "UMLS:C5848327"]}
{"category": ["biolink:Disease"], "description": "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.", "id": "MONDO:0008901", "name": "Tel hashomer camptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tel Hashomer camptodactyly syndrome"], "xref": ["GARD:0005128", "MEDGEN:347860", "MESH:C536953", "OMIM:211960", "Orphanet:3292", "SCTID:719946008", "UMLS:C1859356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008902", "name": "Camptodactyly-ichthyosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["camptodactyly-ichthyosis syndrome"], "xref": ["MEDGEN:347130", "MESH:C537976", "OMIM:211965", "UMLS:C1859355"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the lung.", "id": "MONDO:0008903", "name": "Lung cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "adenocarcinoma of lung, somatic", "cancer of lung", "lung cancer", "lung cancer, protection against, autosomal dominant, somatic mutation", "lung cancer, resistance to, autosomal dominant, somatic mutation", "lung cancer, somatic", "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "malignant lung neoplasm", "malignant lung tumor", "malignant lung tumour", "malignant neoplasm of lung", "malignant neoplasm of the lung", "malignant tumor of lung", "malignant tumor of the lung", "malignant tumour of lung", "malignant tumour of the lung", "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "nonsmall cell lung cancer, somatic", "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation"], "xref": ["DOID:1324", "ICD9:162.3", "ICD9:162.4", "ICD9:162.5", "ICD9:162.8", "ICD9:162.9", "MEDGEN:66885", "NCIT:C7377", "OMIM:211980", "SCTID:363358000", "UMLS:C0242379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008904", "name": "Camptomelic syndrome, long-limb type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["camptomelic syndrome, long-limb type"], "xref": ["GARD:0001071", "MEDGEN:347129", "MESH:C537977", "OMIM:211990", "UMLS:C1859354"]}
{"category": ["biolink:Disease"], "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.", "id": "MONDO:0008907", "name": "Pmm2-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG 1A", "CDG syndrome type Ia", "CDG-IA", "CDG1A", "PMM2-CDG", "PMM2-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Ia", "congenital disorder of glycosylation type 1a", "congenital disorder of glycosylation type Ia", "phosphomannomutase 2 deficiency"], "xref": ["DOID:0080552", "GARD:0009826", "MEDGEN:138111", "MESH:C535739", "NCIT:C126868", "NORD:1585", "OMIM:212065", "Orphanet:79318", "SCTID:459063003", "UMLS:C0349653"]}
{"category": ["biolink:Disease"], "description": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).", "id": "MONDO:0008908", "name": "Mgat2-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIa", "CDG-IIa", "CDG2A", "MGAT2-CDG", "N-acetylglucosaminyltransferase 2 deficiency", "carbohydrate deficient glycoprotein syndrome type IIa", "congenital disorder of glycosylation type 2a", "congenital disorder of glycosylation type IIa"], "xref": ["DOID:0070253", "GARD:0009828", "MEDGEN:443956", "MESH:C535752", "OMIM:212066", "Orphanet:79329", "SCTID:724142005", "UMLS:C2931008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008909", "name": "Congenital disorder of glycosylation, type i/iix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital disorder of glycosylation, type i/IIx"], "xref": ["MEDGEN:91162", "MESH:C562844", "OMIM:212067", "UMLS:C0349655"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.", "id": "MONDO:0008910", "name": "Carboxypeptidase n deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["carboxypeptidase N deficiency"], "xref": ["DOID:0111583", "GARD:0027789", "ICD9:279.8", "MEDGEN:98312", "MESH:C562876", "NCIT:C132196", "OMIM:212070", "SCTID:234627009", "UMLS:C0398782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008911", "name": "Cardiac lipidosis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cardiac lipidosis, familial"], "xref": ["GARD:0015148", "MEDGEN:395234", "MESH:C565884", "OMIM:212080", "UMLS:C1859332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008912", "name": "Cardiac septal defects with coarctation of the aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiac septal defects with coarctation of the aorta"], "xref": ["MEDGEN:347855", "MESH:C565883", "OMIM:212090", "UMLS:C1859331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008913", "name": "Cardiac valvular defect, developmental", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiac valvular defect, developmental"], "xref": ["DOID:0080633", "MEDGEN:1823949", "MESH:C565882", "OMIM:212093", "UMLS:C5774175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008914", "name": "Cardioauditory syndrome of sanchez cascos", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardioauditory syndrome of Sanchez Cascos"], "xref": ["MEDGEN:395233", "MESH:C535577", "OMIM:212100", "UMLS:C1859329"]}
{"category": ["biolink:Disease"], "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).", "id": "MONDO:0008915", "name": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Malouf syndrome", "Najjar syndrome", "cardiogenital syndrome"], "xref": ["DOID:0111584", "GARD:0003373", "MEDGEN:162901", "NCIT:C174217", "OMIM:212112", "Orphanet:2229", "SCTID:719451006", "UMLS:C0796031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008916", "name": "Cardiomyopathy associated with myopathy and sudden death", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiomyopathy associated with myopathy and sudden death"], "xref": ["MEDGEN:395232", "MESH:C565881", "OMIM:212130", "UMLS:C1859328"]}
{"category": ["biolink:Disease"], "description": "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.", "id": "MONDO:0008917", "name": "Heart defects-limb shortening syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["heart defect and limb shortening syndrome"], "xref": ["GARD:0002613", "MEDGEN:349142", "MESH:C535850", "OMIM:212135", "Orphanet:1354", "SCTID:721009008", "UMLS:C1859327"]}
{"category": ["biolink:Disease"], "description": "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.", "id": "MONDO:0008918", "name": "Carnitine-acylcarnitine translocase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACT deficiency", "carnitine-acylcarnitine translocase deficiency"], "xref": ["DOID:0111585", "GARD:0001123", "MEDGEN:91000", "MESH:C562812", "NANDO:1200972", "NANDO:2200511", "NCIT:C133086", "OMIM:212138", "Orphanet:159", "SCTID:238003000", "UMLS:C0342791", "icd11.foundation:677949122"]}
{"category": ["biolink:Disease"], "description": "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.", "id": "MONDO:0008919", "name": "Systemic primary carnitine deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDSP", "CUD", "Carnitine deficiency", "Carnitine transporter defect", "Carnitine uptake deficiency", "SPCD", "carnitine transporter deficiency", "carnitine uptake defect", "cud", "deficiency of plasma-membrane carnitine transporter", "primary carnitine deficiency", "renal carnitine transport defect", "systemic primary carnitine deficiency disease"], "xref": ["DOID:14365", "GARD:0005104", "ICD10CM:E71.41", "ICD9:277.81", "ICD9:277.82", "MEDGEN:90999", "MESH:C536778", "NANDO:1200973", "NANDO:2200508", "NCIT:C98864", "OMIM:212140", "Orphanet:158", "SCTID:21764004", "UMLS:C0342788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008920", "name": "Carnitine deficiency, myopathic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carnitine deficiency, myopathic"], "xref": ["MEDGEN:347852", "MESH:C536100", "OMIM:212160", "UMLS:C1859318"]}
{"category": ["biolink:Disease"], "description": "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.", "id": "MONDO:0008921", "name": "Carnosinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carnosinase deficiency", "carnosinemia"], "xref": ["GARD:0006001", "MEDGEN:501203", "NCIT:C125661", "OMIM:212200", "Orphanet:1361", "SCTID:410052008", "UMLS:C3495555"]}
{"category": ["biolink:Disease"], "description": "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.", "id": "MONDO:0008922", "name": "Sengers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sengers syndrome", "mitochondrial DNA depletion syndrome 10"], "xref": ["DOID:0080132", "GARD:0001142", "MEDGEN:395228", "MESH:C538280", "OMIM:212350", "Orphanet:1369", "SCTID:717812000", "UMLS:C1859317", "icd11.foundation:22670425"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.", "id": "MONDO:0008923", "name": "Autosomal recessive palmoplantar keratoderma and congenital alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPK-CA, Wallis type", "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia", "cataract-alopecia-sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia type 2", "palmoplantar keratoderma and congenital alopecia, Wallis type"], "xref": ["DOID:0111245", "GARD:0001139", "MEDGEN:347851", "MESH:C535336", "OMIM:212360", "Orphanet:1366", "UMLS:C1859316", "icd11.foundation:1733151457"]}
{"category": ["biolink:Disease"], "description": "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.", "id": "MONDO:0008924", "name": "Congenital cataract-ichthyosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001145", "MEDGEN:347122", "MESH:C538281", "OMIM:212400", "Orphanet:1376", "UMLS:C1859315"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.", "id": "MONDO:0008925", "name": "Cataract 46 juvenile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTRCT46", "LEMD2 early-onset non-syndromic cataract", "early-onset non-syndromic cataract caused by mutation in LEMD2"], "xref": ["DOID:0110243", "GARD:0001150", "MEDGEN:113102", "MESH:C538286", "OMIM:212500", "Orphanet:98987", "UMLS:C0220721"]}
{"category": ["biolink:Disease"], "description": "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.", "id": "MONDO:0008926", "name": "Cofs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["COFS", "Cerebro Oculo Facio Skeletal Syndrome", "Pena-Shokeir syndrome type 2", "cerebro-oculo-facio-skeletal syndrome", "cerebrooculofacioskeletal syndrome"], "xref": ["DOID:0080910", "GARD:0006027", "MEDGEN:1762238", "NCIT:C3817", "NORD:913", "OMIMPS:214150", "Orphanet:1466", "UMLS:C5399761"]}
{"category": ["biolink:Disease"], "description": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.", "id": "MONDO:0008927", "name": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080635", "GARD:0017719", "MEDGEN:894574", "MESH:C565876", "OMIM:212550", "Orphanet:435930", "UMLS:C4225424"]}
{"category": ["biolink:Disease"], "description": "Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.", "id": "MONDO:0008928", "name": "Cataract-ataxia-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001141", "MEDGEN:163216", "MESH:C538283", "OMIM:212710", "Orphanet:1368", "UMLS:C0796123"]}
{"category": ["biolink:Disease"], "description": "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.", "id": "MONDO:0008931", "name": "Cenani-lenz syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cenani syndactyly", "Cenani-Lenz syndactyly", "Cenani-Lenz syndactyly syndrome", "syndactyly type 7"], "xref": ["DOID:0090015", "GARD:0005084", "MEDGEN:395226", "MESH:C538150", "OMIM:212780", "Orphanet:3258", "SCTID:720633009", "UMLS:C1859309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008932", "name": "Premature centromere division", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PCD", "premature centromere division"], "xref": ["MEDGEN:349138", "OMIM:212790", "UMLS:C1859308"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008933", "name": "Cephalin lipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cephalin lipidosis"], "xref": ["MEDGEN:395225", "MESH:C565872", "OMIM:212800", "UMLS:C1859307"]}
{"category": ["biolink:Disease"], "description": "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.", "id": "MONDO:0008934", "name": "Cerebellar ataxia-ectodermal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001189", "MEDGEN:347850", "MESH:C535350", "OMIM:212835", "Orphanet:1174", "SCTID:715371006", "UMLS:C1859306"]}
{"category": ["biolink:Disease"], "description": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.", "id": "MONDO:0008935", "name": "Gordon-Holmes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gordon-Holmes syndrome", "luteinizing hormone-releasing hormone deficiency with ataxia"], "xref": ["DOID:0111587", "GARD:0003314", "MEDGEN:349137", "MESH:C565870", "OMIM:212840", "Orphanet:1173", "UMLS:C1859305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008936", "name": "Cerebellar ataxia and neurosensory deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebellar ataxia and neurosensory deafness"], "xref": ["MEDGEN:395224", "MESH:C565869", "OMIM:212850", "UMLS:C1859304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008937", "name": "Cerebellar ataxia, benign, with thermoanalgesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebellar ataxia, benign, with thermoanalgesia"], "xref": ["MEDGEN:349136", "MESH:C565868", "OMIM:212890", "UMLS:C1859303"]}
{"category": ["biolink:Disease"], "description": "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.", "id": "MONDO:0008938", "name": "Early-onset cerebellar ataxia with retained tendon reflexes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EOCA", "EOCARR", "Harding ataxia"], "xref": ["GARD:0002600", "ICD9:334.3", "MEDGEN:140726", "MESH:C535633", "OMIM:212895", "Orphanet:1177", "SCTID:230228004", "UMLS:C0393520"]}
{"category": ["biolink:Disease"], "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.", "id": "MONDO:0008939", "name": "Isolated cerebellar hypoplasia/agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chiari 4 malformation", "Chiari IV malformation", "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "congenital cerebellar Hypoplasia", "near total absence of cerebellum", "subtotal absence of cerebellum"], "xref": ["DOID:0070338", "GARD:0018720", "MEDGEN:1695950", "MESH:C562568", "MedDRA:10008033", "NCIT:C98890", "NORD:910", "OMIM:213000", "Orphanet:1398", "SCTID:16026008", "UMLS:C5231391"]}
{"category": ["biolink:Disease"], "description": "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0008941", "name": "Hepatic fibrosis-renal cysts-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Thompson Baraitser syndrome", "Thompson-Baraitser syndrome"], "xref": ["GARD:0005177", "MEDGEN:347120", "MESH:C565867", "OMIM:213010", "Orphanet:2031", "UMLS:C1859300"]}
{"category": ["biolink:Disease"], "description": "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.", "id": "MONDO:0008943", "name": "Autosomal recessive spinocerebellar ataxia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PMPCA autosomal recessive congenital cerebellar ataxia", "SCAR2", "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA", "autosomal recessive spinocerebellar ataxia type 2"], "xref": ["DOID:0080061", "GARD:0001199", "MEDGEN:349134", "MESH:C565865", "OMIM:213200", "Orphanet:1170", "SCTID:715369006", "UMLS:C1859298"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.", "id": "MONDO:0008944", "name": "Joubert syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORS1", "CPD4", "INPP5E Joubert syndrome", "JBTS1", "Joubert syndrome 1", "Joubert syndrome caused by mutation in INPP5E", "Joubert syndrome type 1", "cerebellooculorenal syndrome 1"], "xref": ["DOID:0110980", "GARD:0024643", "MEDGEN:1644883", "OMIM:213300", "UMLS:C4551568"]}
{"category": ["biolink:Disease"], "description": "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)", "id": "MONDO:0008945", "name": "Myoclonic cerebellar dyssynergia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:speculative"], "synonym": ["cerebelloparenchymal disorder type 5", "dyssynergia cerebellaris myoclonica", "myoclonus and ataxia"], "xref": ["DOID:12707", "EFO:1001053", "GARD:0009256", "MEDGEN:483579", "MESH:D002527", "OMIM:159700", "OMIM:213400", "SCTID:73495003", "UMLS:C3489626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008946", "name": "Cerebral angiopathy, dysphoric", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral angiopathy, dysphoric"], "xref": ["MEDGEN:349128", "MESH:C565864", "OMIM:213500", "UMLS:C1859283"]}
{"category": ["biolink:Disease"], "description": "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.", "id": "MONDO:0008947", "name": "Bilateral striopallidodentate calcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSPDC", "PFBC", "Primary Familial Brain Calcification", "basal ganglia calcification", "basal ganglia degeneration with calcification", "cerebrovascular ferrocalcinosis", "primary familial brain calcification"], "xref": ["DOID:0060230", "GARD:0006406", "HP:0002135", "ICD9:333.0", "ICD9:348.89", "MESH:C536275", "MedDRA:10059626", "NANDO:1200207", "NORD:1127", "OMIMPS:213600", "Orphanet:1980", "SCTID:110997000", "SCTID:230311004", "icd11.foundation:1081370436"]}
{"category": ["biolink:Disease"], "description": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.", "id": "MONDO:0008948", "name": "Cerebrotendinous xanthomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTX", "CTx", "cerebrotendinous xanthomatosis", "cholestanol storage disease", "sterol 27-hydroxylase deficiency"], "xref": ["DOID:4810", "GARD:0005622", "MEDGEN:116041", "MESH:D019294", "NANDO:1200856", "NCIT:C84628", "NORD:915", "OMIM:213700", "Orphanet:909", "SCTID:63246000", "UMLS:C0238052", "icd11.foundation:1556875179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008949", "name": "Cerebral malformation, seizures, hypertrichosis, and overlapping fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral malformation, seizures, hypertrichosis, and overlapping fingers"], "xref": ["GARD:0003812", "MEDGEN:395211", "MESH:C537370", "OMIM:213820", "UMLS:C1859259"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008950", "name": "Cerebral sclerosis similar to pelizaeus-merzbacher disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral sclerosis similar to Pelizaeus-Merzbacher disease"], "xref": ["GARD:0007348", "MEDGEN:395210", "MESH:C536318", "OMIM:213900", "UMLS:C1859258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008951", "name": "Cerebrocortical degeneration of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebrocortical degeneration of infancy"], "xref": ["MEDGEN:347837", "MESH:C565863", "OMIM:213950", "UMLS:C1859257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008953", "name": "Peroxisome biogenesis disorder 1a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 1A (Zellweger)"], "xref": ["DOID:0080476", "GARD:0024644", "MEDGEN:1648474", "OMIM:214100", "UMLS:C4721541"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008954", "name": "Peroxisome biogenesis disorder 2a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 2A (Zellweger)"], "xref": ["DOID:0080477", "GARD:0015149", "MEDGEN:763187", "OMIM:214110", "UMLS:C3550273"]}
{"category": ["biolink:Disease"], "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.", "id": "MONDO:0008955", "name": "Cerebrooculofacioskeletal syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFS syndrome caused by mutation in ERCC6", "COFS1", "ERCC6 COFS syndrome", "cerebrooculofacioskeletal syndrome 1", "cerebrooculofacioskeletal syndrome type 1"], "xref": ["DOID:0080911", "GARD:0015150", "MEDGEN:66320", "NCIT:C173085", "OMIM:214150", "UMLS:C0220722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008957", "name": "Cervical vertebrae, agenesis of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical vertebrae, agenesis of"], "xref": ["MEDGEN:140922", "MESH:C562952", "OMIM:214290", "UMLS:C0432160"]}
{"category": ["biolink:Disease"], "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.", "id": "MONDO:0008958", "name": "Klippel-feil syndrome 2, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Klippel-Feil syndrome 2, autosomal recessive", "MEOX1 isolated Klippel-Feil syndrome", "isolated Klippel-Feil syndrome caused by mutation in MEOX1"], "xref": ["DOID:0080590", "GARD:0015151", "MEDGEN:395201", "MESH:C536888", "OMIM:214300", "UMLS:C1859209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008959", "name": "Chand syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHAND syndrome", "CHANDS"], "xref": ["GARD:0001233", "MEDGEN:98035", "MESH:C538074", "OMIM:214350", "Orphanet:1401", "SCTID:239037001", "UMLS:C0406733"]}
{"category": ["biolink:Disease"], "description": "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.", "id": "MONDO:0008960", "name": "Charcot-marie-tooth disease-hearing loss-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome", "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers", "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres"], "xref": ["GARD:0016786", "MEDGEN:348419", "OMIM:214370", "Orphanet:90103", "SCTID:715666007", "UMLS:C1861669"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.", "id": "MONDO:0008961", "name": "Charcot-marie-tooth disease type 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4A", "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1", "GDAP1 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110185", "GARD:0001252", "MEDGEN:347821", "MESH:C535419", "OMIM:214400", "Orphanet:99948", "SCTID:715796006", "UMLS:C1859198", "icd11.foundation:1476665103"]}
{"category": ["biolink:Disease"], "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.", "id": "MONDO:0008962", "name": "Griscelli syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GS1", "Griscelli syndrome type 1", "Griscelli-PruniC)ras syndrome type 1", "Griscelli-Pruniéras syndrome type 1", "hypopigmentation-neurologic impairment syndrome"], "xref": ["DOID:0060832", "GARD:0002566", "MEDGEN:347092", "MESH:C537301", "OMIM:214450", "Orphanet:79476", "UMLS:C1859194", "icd11.foundation:875700770"]}
{"category": ["biolink:Disease"], "description": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.", "id": "MONDO:0008963", "name": "Chediak-higashi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak Higashi Syndrome", "Chediak Higashi syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi syndrome", "Chédiak-Higashi-Steinbrink syndrome"], "xref": ["DOID:2935", "GARD:0006035", "ICD10CM:E70.330", "MEDGEN:3347", "MESH:D002609", "MedDRA:10008415", "NANDO:1200350", "NANDO:1200639", "NANDO:2200724", "NCIT:C2941", "NORD:921", "OMIM:214500", "Orphanet:167", "SCTID:111396008", "UMLS:C0007965"]}
{"category": ["biolink:Disease"], "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.", "id": "MONDO:0008964", "name": "Congenital secretory chloride diarrhea 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC26A3 secretory diarrhea", "SLC26A3 secretory diarrhoea", "congenital chloridorrhea", "congenital secretory chloride diarrhea type 1", "congenital secretory chloride diarrhoea type 1", "secretory diarrhea caused by mutation in SLC26A3", "secretory diarrhoea caused by mutation in SLC26A3"], "xref": ["DOID:0060296", "GARD:0010001", "ICD9:579.8", "MEDGEN:78631", "MESH:C536210", "OMIM:214700", "Orphanet:53689", "SCTID:24412005", "UMLS:C0267662"]}
{"category": ["biolink:Disease"], "description": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).", "id": "MONDO:0008965", "name": "Charge syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHARGE association", "CHARGE syndrome", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome"], "xref": ["DOID:0050834", "GARD:0000029", "ICD9:759.89", "MEDGEN:75567", "MESH:D058747", "MedDRA:10064063", "NANDO:1200464", "NANDO:2200972", "NCIT:C75100", "NORD:920", "Orphanet:138", "SCTID:47535005", "UMLS:C0265354", "icd11.foundation:52086532"]}
{"category": ["biolink:Disease"], "description": "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.", "id": "MONDO:0008966", "name": "Aagenaes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aagenaes syndrome"], "xref": ["DOID:6691", "GARD:0000370", "ICD9:576.8", "MEDGEN:78658", "MESH:C535330", "NCIT:C35709", "OMIM:214900", "Orphanet:1414", "SCTID:28724005", "UMLS:C0268314"]}
{"category": ["biolink:Disease"], "description": "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.", "id": "MONDO:0008967", "name": "Congenital bile acid synthesis defect 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2-methylacyl-CoA racemase deficiency", "Alpha-methyl-acyl-CoA racemase deficiency", "BAS defect type 4", "BASD4", "CBAS4", "bile acid synthesis defect, congenital, type 4", "congenital bile acid synthesis defect 4", "congenital bile acid synthesis defect type 4", "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome"], "xref": ["DOID:0111068", "GARD:0010046", "MEDGEN:388039", "MESH:C535444", "OMIM:214950", "Orphanet:79095", "UMLS:C1858328"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008968", "name": "Cholestasis with gallstone, ataxia, and visual disturbance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholestasis with gallstone, ataxia, and visual disturbance"], "xref": ["MEDGEN:347812", "MESH:C565856", "OMIM:214980", "UMLS:C1859161"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008969", "name": "Cholesterol pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholesterol pneumonia"], "xref": ["ICD9:516.8", "MEDGEN:154291", "MESH:C535937", "OMIM:215030", "SCTID:233728004", "UMLS:C0549472"]}
{"category": ["biolink:Disease"], "description": "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.", "id": "MONDO:0008970", "name": "Chondrodysplasia blomstrand type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BLC", "BOCD", "Blomstrand chondrodysplasia", "Blomstrand lethal chondrodysplasia", "Blomstrand osteochondrodysplasia", "Blomstrand type chondrodysplasia", "chondrodysplasia, Blomstrand type"], "xref": ["DOID:0060387", "GARD:0000914", "MEDGEN:395189", "MESH:C537914", "NCIT:C131420", "OMIM:215045", "Orphanet:50945", "UMLS:C1859148"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008971", "name": "Chondrodysplasia calcificans metaphysealis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chondrodysplasia calcificans Metaphysealis"], "xref": ["GARD:0010613", "MEDGEN:347809", "MESH:C565855", "OMIM:215050", "UMLS:C1859147"]}
{"category": ["biolink:Disease"], "description": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.", "id": "MONDO:0008972", "name": "Rhizomelic chondrodysplasia punctata type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PBD9", "PEX7 rhizomelic chondrodysplasia punctata", "Pbd9", "RCDP1", "Rcdp1", "peroxisome biogenesis disorder 9", "rhizomelic chondrodysplasia punctata caused by mutation in PEX7", "rhizomelic chondrodysplasia punctata type 1", "rhizomelic chondrodysplasia punctata, type 1"], "xref": ["DOID:0110851", "GARD:0006049", "MEDGEN:347072", "NANDO:1200763", "OMIM:215100", "Orphanet:309789", "UMLS:C1859133", "icd11.foundation:44503513"]}
{"category": ["biolink:Disease"], "description": "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.", "id": "MONDO:0008973", "name": "Chondrodysplasia punctata, toriello type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Toriello-Higgins-Miller syndrome"], "xref": ["GARD:0016716", "MEDGEN:347071", "MESH:C565853", "OMIM:215105", "Orphanet:79347", "SCTID:715631005", "UMLS:C1859132", "icd11.foundation:1167798993"]}
{"category": ["biolink:Disease"], "description": "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.", "id": "MONDO:0008974", "name": "Greenberg dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Greenberg dysplasia", "hem dysplasia", "hydrops-ectopic calcification-motheaten syndrome", "skeletal dysplasia, Greenberg type"], "xref": ["DOID:0111588", "GARD:0008754", "MEDGEN:418969", "MESH:C535858", "NANDO:2201361", "OMIM:215140", "Orphanet:1426", "SCTID:389261002", "UMLS:C2931048", "icd11.foundation:1858458540"]}
{"category": ["biolink:Disease"], "description": "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.", "id": "MONDO:0008975", "name": "Otospondylomegaepiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OSMED", "otospondylmegaepiphyseal dysplasia", "otospondylomegaepiphyseal dysplasia"], "xref": ["DOID:0080026", "GARD:0004130", "ICD9:759.89", "MEDGEN:1617409", "OMIMPS:184840", "Orphanet:1427", "SCTID:254060000", "UMLS:C4520892", "icd11.foundation:1885284987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008976", "name": "Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome"], "xref": ["MEDGEN:349095", "MESH:C565852", "OMIM:215250", "UMLS:C1859104"]}
{"category": ["biolink:Disease"], "description": "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.", "id": "MONDO:0008977", "name": "Chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chondrosarcoma", "chondrosarcoma (disease)", "chondrosarcoma, malignant", "chondrosarcoma, somatic mutation"], "xref": ["DOID:3371", "EFO:0000333", "GARD:0006055", "HP:0006765", "ICD9:170.9", "ICDO:9220/3", "MEDGEN:3054", "MESH:D002813", "MedDRA:10008734", "NANDO:2200050", "NCIT:C2946", "OMIM:215300", "ONCOTREE:CHS", "Orphanet:55880", "SCTID:443520009", "UMLS:C0008479"]}
{"category": ["biolink:Disease"], "description": "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.", "id": "MONDO:0008978", "name": "Chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chordoma", "chordoma (disease)", "chordoma, malignant", "notochordal sarcoma"], "xref": ["DOID:3302", "GARD:0001303", "HP:0010762", "ICDO:9370/3", "MEDGEN:40277", "MESH:D002817", "MedDRA:10008747", "NANDO:2200098", "NCIT:C2947", "NORD:931", "OMIM:215400", "ONCOTREE:CHDM", "Orphanet:178", "UMLS:C0008487", "icd11.foundation:898231522"]}
{"category": ["biolink:Disease"], "description": "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.", "id": "MONDO:0008979", "name": "Chorea, benign familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chorea, benign familial"], "xref": ["GARD:0001305", "MEDGEN:347799", "MESH:C565851", "OMIM:215450", "UMLS:C1859098"]}
{"category": ["biolink:Disease"], "description": "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.", "id": "MONDO:0008980", "name": "Ataxia-hypogonadism-choroidal dystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BNHS", "Boucher-Neuhauser syndrome", "Boucher-Neuhchäuser syndrome", "Boucher-Neuhäuser syndrome", "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism", "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy"], "xref": ["DOID:0111265", "GARD:0000944", "MEDGEN:347798", "MESH:C565850", "OMIM:215470", "Orphanet:1180", "SCTID:715984007", "UMLS:C1859093"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.", "id": "MONDO:0008981", "name": "Infantile choroidocerebral calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001313", "MEDGEN:395174", "MESH:C535357", "OMIM:215480", "Orphanet:1313", "SCTID:724228005", "UMLS:C1859092"]}
{"category": ["biolink:Disease"], "description": "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.", "id": "MONDO:0008982", "name": "Central areolar choroidal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACD", "areolar atrophy of the macula", "central areolar choroidal sclerosis", "choroidal dystrophy"], "xref": ["GARD:0010049", "ICD10CM:H31.22", "ICD9:363.54", "MEDGEN:283932", "NANDO:1200939", "OMIMPS:215500", "Orphanet:75377", "SCTID:231996009", "SCTID:312918002", "UMLS:C1536451", "icd11.foundation:2018537024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008983", "name": "Chromosomal instability with tissue-specific radiosensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chromosomal instability with tissue-specific radiosensitivity"], "xref": ["MEDGEN:347797", "MESH:C565848", "OMIM:215510", "UMLS:C1859091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008984", "name": "Ciliary discoordination due to random ciliary orientation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliary discoordination due to random ciliary orientation"], "xref": ["GARD:0001360", "ICD9:759.89", "MEDGEN:83299", "MESH:C562757", "OMIM:215518", "SCTID:233667003", "UMLS:C0340038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008985", "name": "Ciliary dyskinesia with transposition of ciliary microtubules", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliary dyskinesia with transposition of ciliary microtubules"], "xref": ["GARD:0001361", "MEDGEN:388736", "MESH:C567137", "OMIM:215520", "UMLS:C2673817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008986", "name": "Circumvallate placenta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circumvallate placenta syndrome"], "xref": ["MEDGEN:347062", "MESH:C565847", "OMIM:215550", "UMLS:C1859089"]}
{"category": ["biolink:Disease"], "description": "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).", "id": "MONDO:0008988", "name": "Citrullinemia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASS deficiency", "CTLN1", "argininosuccinate synthase deficiency", "argininosuccinate synthetase deficiency", "argininosuccinic acid synthase deficiency", "argininosuccinic acid synthetase deficiency", "citrullinemia type 1", "citrullinemia type I", "classic citrullinemia"], "xref": ["DOID:0070340", "GARD:0006114", "MEDGEN:1648491", "MedDRA:10058298", "NANDO:1200805", "NANDO:2200480", "NCIT:C150601", "OMIM:215700", "Orphanet:247525", "SCTID:398680004", "UMLS:C4721769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008989", "name": "Citrulline transport defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["citrulline transport defect"], "xref": ["MEDGEN:349092", "MESH:C536207", "OMIM:215720", "UMLS:C1859084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008990", "name": "Cleft larynx, posterior", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["cleft larynx, posterior"], "xref": ["GARD:0004015", "MEDGEN:349091", "MESH:C537851", "OMIM:215800", "Orphanet:2005", "UMLS:C1859083"]}
{"category": ["biolink:Disease"], "description": "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.", "id": "MONDO:0008991", "name": "Verloove vanhorick-brubakk syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cleft lip-limb and heart malformations syndrome", "cleft-limb-heart malformation syndrome syndrome"], "xref": ["GARD:0005482", "MEDGEN:395171", "MESH:C536541", "OMIM:215850", "Orphanet:3429", "SCTID:764697003", "UMLS:C1859082"]}
{"category": ["biolink:Disease"], "description": "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.", "id": "MONDO:0008992", "name": "Juberg-hayward syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Juberg-Hayward syndrome", "Orocraniodigital Syndrome", "Orocraniodigital syndrome", "cleft lip/palate-abnormal thumbs-microcephaly syndrome"], "xref": ["GARD:0003060", "MEDGEN:162906", "MESH:C537690", "NORD:1531", "OMIM:216100", "Orphanet:2319", "SCTID:721874001", "UMLS:C0796099", "icd11.foundation:395922030"]}
{"category": ["biolink:Disease"], "description": "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.", "id": "MONDO:0008993", "name": "Cleft palate-stapes fixation-oligodontia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001393", "MEDGEN:347795", "MESH:C565844", "OMIM:216300", "Orphanet:2010", "UMLS:C1859081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0008994", "name": "Cleidocranial dysplasia, recessive form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cleidocranial dysplasia, recessive form"], "xref": ["GARD:0010623", "MEDGEN:395170", "MESH:C565843", "OMIM:216330", "UMLS:C1859080"]}
{"category": ["biolink:Disease"], "description": "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0008995", "name": "Yunis-varon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Yunis Varon Syndrome", "Yunis Varon syndrome", "Yunis-Varon syndrome", "Yunis-Varón syndrome", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia", "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"], "xref": ["DOID:0060589", "GARD:0000331", "MEDGEN:341818", "MESH:C536719", "NORD:1875", "OMIM:216340", "Orphanet:3472", "UMLS:C1857663", "icd11.foundation:1696991249"]}
{"category": ["biolink:Disease"], "description": "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.", "id": "MONDO:0008998", "name": "Cockayne syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Cockayne syndrome type 3", "Cockayne syndrome type III"], "xref": ["GARD:0001417", "MEDGEN:196713", "OMIM:216411", "Orphanet:90324", "UMLS:C0751037", "icd11.foundation:1401163130"]}
{"category": ["biolink:Disease"], "description": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.", "id": "MONDO:0008999", "name": "Cohen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cohen syndrome", "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness"], "xref": ["DOID:0111590", "GARD:0006126", "ICD9:759.89", "MEDGEN:78539", "MESH:C536438", "MedDRA:10049066", "NANDO:2200750", "NORD:986", "OMIM:216550", "Orphanet:193", "SCTID:56604005", "UMLS:C0265223", "icd11.foundation:1188737383"]}
{"category": ["biolink:Disease"], "description": "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.", "id": "MONDO:0009000", "name": "Familial reactive perforating collagenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0013331", "MEDGEN:347504", "MESH:C565687", "OMIM:216700", "Orphanet:79147", "UMLS:C1857624", "icd11.foundation:563155724"]}
{"category": ["biolink:Disease"], "description": "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.", "id": "MONDO:0009001", "name": "Macular coloboma-cleft palate-hallux valgus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016802", "MEDGEN:341812", "MESH:C565686", "OMIM:216800", "Orphanet:91494", "SCTID:722463001", "UMLS:C1857619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009002", "name": "Coloboma, ocular, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["coloboma, ocular, autosomal recessive"], "xref": ["MEDGEN:860411", "OMIM:216820", "UMLS:C4011974"]}
{"category": ["biolink:Disease"], "description": "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.", "id": "MONDO:0009003", "name": "Achromatopsia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACHM2", "CNGA3 achromatopsia", "RMCH2", "achromatopsia 2", "achromatopsia caused by mutation in CNGA3", "achromatopsia type 2", "rod monochromacy 2", "rod monochromatism 2"], "xref": ["DOID:0110007", "GARD:0009649", "MEDGEN:387867", "MESH:C536128", "NCIT:C168757", "OMIM:216900", "UMLS:C1857618"]}
{"category": ["biolink:Disease"], "description": "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.", "id": "MONDO:0009005", "name": "Complement component c1r/c1s deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["complement component C1r/C1s deficiency"], "xref": ["GARD:0015155", "MEDGEN:461624", "NCIT:C119991", "OMIM:216950", "UMLS:C3150274", "icd11.foundation:448435460"]}
{"category": ["biolink:Disease"], "description": "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.", "id": "MONDO:0009006", "name": "Complement component 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C2 complement deficiency", "complement component 2 deficiency", "complement deficiency caused by mutation in C2"], "xref": ["DOID:0060295", "GARD:0001452", "MEDGEN:585060", "NANDO:2200781", "NCIT:C119992", "OMIM:217000", "UMLS:C0398756"]}
{"category": ["biolink:Disease"], "description": "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).", "id": "MONDO:0009007", "name": "Jalili syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jalili syndrome", "cone rod dystrophy-amelogenesis imperfecta syndrome"], "xref": ["DOID:0111404", "GARD:0001463", "ICD9:362.75", "ICD9:520.5", "MEDGEN:501210", "MESH:C000596385", "OMIM:217080", "Orphanet:1873", "SCTID:707608003", "UMLS:C3495589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009008", "name": "Heart defect - tongue hamartoma - polysyndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ostravik-Lindemann-Solberg syndrome", "heart defect - tongue hamartoma - polysyndactyly syndrome"], "xref": ["DOID:0111591", "GARD:0004166", "MEDGEN:341804", "MESH:C535849", "OMIM:217085", "Orphanet:1338", "UMLS:C1857587"]}
{"category": ["biolink:Disease"], "description": "A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.", "id": "MONDO:0009009", "name": "Hypoplasminogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypoplasminogenemia", "plasminogen deficiency type 1", "plasminogen deficiency, type 1", "plasminogen deficiency, type I", "type 1 plasminogen deficiency"], "xref": ["DOID:0111592", "GARD:0004380", "ICD9:372.39", "MEDGEN:369859", "MESH:C580017", "MedDRA:10071570", "OMIM:217090", "Orphanet:722", "Orphanet:97231", "SCTID:403435005", "SCTID:95840007", "UMLS:C1968804", "icd11.foundation:1240776230"]}
{"category": ["biolink:Disease"], "description": "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.", "id": "MONDO:0009010", "name": "Aortic arch interruption", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000740", "ICD10CM:Q25.21", "ICD9:745.11", "MEDGEN:57773", "MedDRA:10022599", "NANDO:2200288", "Orphanet:2299", "UMLS:C0152419", "icd11.foundation:1769930414"]}
{"category": ["biolink:Disease"], "description": "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0009012", "name": "Multiple pterygium-malignant hyperthermia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["froster-Iskenius-Waterson-Hall syndrome", "malignant hyperthermia-arthrogryposis-torticollis syndrome"], "xref": ["GARD:0003361", "MEDGEN:347490", "MESH:C565679", "OMIM:217150", "Orphanet:2215", "UMLS:C1857576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009013", "name": "Convulsive disorder, familial, with prenatal or early onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["convulsive disorder, familial, with prenatal or early onset"], "xref": ["MEDGEN:387859", "MESH:C565678", "OMIM:217200", "UMLS:C1857575"]}
{"category": ["biolink:Disease"], "description": "Any cornea plana in which the cause of the disease is a mutation in the KERA gene.", "id": "MONDO:0009014", "name": "Cornea plana 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KERA cornea plana", "cornea plana 2", "cornea plana caused by mutation in KERA", "cornea plana type 2"], "xref": ["GARD:0018050", "MEDGEN:346616", "MESH:C565677", "OMIM:217300", "UMLS:C1857574"]}
{"category": ["biolink:Disease"], "description": "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.", "id": "MONDO:0009015", "name": "Corneal dystrophy-perceptive deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDPD", "Harboyan syndrome", "corneal dystrophy with progressive deafness"], "xref": ["DOID:0111620", "GARD:0001529", "MEDGEN:387858", "MESH:C535473", "OMIM:217400", "Orphanet:1490", "SCTID:720749004", "UMLS:C1857572"]}
{"category": ["biolink:Disease"], "description": "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.", "id": "MONDO:0009016", "name": "Band keratopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["band keratopathy", "band-shaped keratopathy"], "xref": ["DOID:11164", "GARD:0024645", "ICD10CM:H18.42", "ICD9:371.43", "MEDGEN:56354", "MESH:C562399", "NCIT:C118765", "OMIM:217500", "SCTID:35055000", "UMLS:C0155120", "icd11.foundation:184627034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009017", "name": "Corneal degeneration, band-shaped spheroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["corneal degeneration, band-shaped spheroid"], "xref": ["MEDGEN:347489", "OMIM:217520", "UMLS:C1857571"]}
{"category": ["biolink:Disease"], "description": "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.", "id": "MONDO:0009018", "name": "Central cloudy dystrophy of françois", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCDF", "central cloudy corneal dystrophy of François", "central cloudy dystrophy of Francois", "central cloudy dystrophy of François"], "xref": ["GARD:0016881", "MEDGEN:302006", "MESH:C563262", "OMIM:217600", "Orphanet:98972", "SCTID:419074008", "UMLS:C1622427"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.", "id": "MONDO:0009019", "name": "Congenital hereditary endothelial dystrophy of cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHED", "CHED2", "CHEDII", "autosomal recessive CHED", "autosomal recessive congenital hereditary endothelial dystrophy", "congenital hereditary endothelial dystrophy of cornea", "congenital hereditary endothelial dystrophy type 2", "corneal endothelial dystrophy, autosomal recessive", "infantile hereditary endothelial dystrophy"], "xref": ["DOID:0060649", "GARD:0006196", "MEDGEN:387857", "MESH:C536439", "OMIM:217700", "Orphanet:293603", "UMLS:C1857569"]}
{"category": ["biolink:Disease"], "description": "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.", "id": "MONDO:0009020", "name": "Macular corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fehr corneal dystrophy", "MCD", "corneal dystrophy Groenouw type II", "macular corneal dystrophy"], "xref": ["DOID:2565", "GARD:0006953", "ICD10CM:H18.55", "ICD9:371.55", "MEDGEN:351514", "MESH:C537834", "MedDRA:10025406", "NCIT:C34793", "OMIM:217800", "Orphanet:98969", "SCTID:60258001", "UMLS:C1636149", "icd11.foundation:791344343"]}
{"category": ["biolink:Disease"], "description": "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.", "id": "MONDO:0009021", "name": "Toriello-carey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Toriello-Carey syndrome", "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome"], "xref": ["GARD:0005225", "MEDGEN:163225", "MESH:C563127", "OMIM:217980", "Orphanet:3338", "SCTID:722477003", "UMLS:C0796184", "icd11.foundation:147297969"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.", "id": "MONDO:0009022", "name": "Corpus callosum, agenesis of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["agenesis of corpus callosum", "corpus callosum agenesis", "corpus callosum, agenesis of"], "xref": ["GARD:0027261", "MEDGEN:104498", "MESH:D061085", "NCIT:C98905", "OMIM:217990", "Orphanet:200", "SCTID:5102002", "UMLS:C0175754"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.", "id": "MONDO:0009024", "name": "Cortical blindness-intellectual disability-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001548", "MEDGEN:347487", "MESH:C565674", "OMIM:218010", "Orphanet:1389", "UMLS:C1857568"]}
{"category": ["biolink:Disease"], "description": "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.", "id": "MONDO:0009025", "name": "Apparent mineralocorticoid excess", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["11 Beta-hydroxysteroid dehydrogenase type 2 deficiency", "11-beta-hydroxysteroid dehydrogenase deficiency type 2", "APE", "Ulick syndrome", "apparent mineralocorticoid excess", "apparent mineralocorticoid excess syndrome", "cortisol 11-beta-ketoreductase deficiency", "syndrome of apparent mineralocorticoid Excess"], "xref": ["DOID:0090121", "DOID:4367", "GARD:0000433", "ICD9:255.3", "MEDGEN:90983", "MESH:C537422", "MESH:D043204", "NANDO:2100130", "NANDO:2200362", "NCIT:C123231", "NCIT:C131083", "OMIM:218030", "Orphanet:320", "SCTID:237770005", "SCTID:703256004", "UMLS:C0342488", "icd11.foundation:1737310323"]}
{"category": ["biolink:Disease"], "description": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.", "id": "MONDO:0009026", "name": "Costello syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Costello syndrome", "FCS syndrome", "congenital myopathy with excess of muscle spindles", "faciocutaneoskeletal syndrome"], "xref": ["DOID:0050469", "GARD:0001550", "ICD9:799.89", "MEDGEN:108454", "MESH:D056685", "MedDRA:10067380", "NANDO:1200463", "NANDO:2200971", "NCIT:C84652", "NORD:1011", "OMIM:218040", "Orphanet:3071", "SCTID:309776008", "UMLS:C0587248", "icd11.foundation:1946512039"]}
{"category": ["biolink:Disease"], "description": "A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.", "id": "MONDO:0009028", "name": "Crane-heise syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Crane-Heise syndrome"], "xref": ["GARD:0008428", "MEDGEN:387847", "MESH:C536452", "OMIM:218090", "Orphanet:1512", "SCTID:715991005", "UMLS:C1857532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009029", "name": "Cranial nerves, congenital paresis of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cranial nerves, congenital paresis of"], "xref": ["MEDGEN:346609", "MESH:C565673", "OMIM:218100", "UMLS:C1857531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009030", "name": "Cranial nerves, recurrent paresis of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cranial nerves, recurrent paresis of"], "xref": ["MEDGEN:387846", "MESH:C565672", "OMIM:218200", "UMLS:C1857530"]}
{"category": ["biolink:Disease"], "description": "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.", "id": "MONDO:0009031", "name": "Craniodiaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lionitis", "craniodiaphyseal dysplasia"], "xref": ["DOID:0080032", "GARD:0001567", "ICD9:756.59", "MEDGEN:96080", "MESH:C562940", "NANDO:2201368", "NCIT:C131429", "OMIM:218300", "Orphanet:1513", "SCTID:205506004", "UMLS:C0410539", "icd11.foundation:505073582"]}
{"category": ["biolink:Disease"], "description": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).", "id": "MONDO:0009032", "name": "Cranioectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CED", "Sensenbrenner syndrome", "cranioectodermal dysplasia"], "xref": ["DOID:0050577", "GARD:0000359", "ICD9:756.9", "MEDGEN:1641011", "NCIT:C129305", "OMIMPS:218330", "Orphanet:1515", "SCTID:254093009", "UMLS:C4551571", "icd11.foundation:1588881145"]}
{"category": ["biolink:Disease"], "description": "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.", "id": "MONDO:0009033", "name": "Temtamy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Temtamy-Shalash syndrome", "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome", "temtamy syndrome"], "xref": ["DOID:0111621", "GARD:0005688", "MEDGEN:347474", "MESH:C536959", "NCIT:C148371", "OMIM:218340", "Orphanet:1777", "SCTID:719947004", "UMLS:C1857512"]}
{"category": ["biolink:Disease"], "description": "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.", "id": "MONDO:0009034", "name": "Craniofacial dyssynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001575", "MEDGEN:347473", "MESH:C536455", "OMIM:218350", "Orphanet:1516", "UMLS:C1857511"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of craniometaphyseal dysplasia.", "id": "MONDO:0009035", "name": "Craniometaphyseal dysplasia, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive craniometaphyseal dysplasia", "craniometaphyseal dysplasia, autosomal recessive"], "xref": ["DOID:0080802", "GARD:0001582", "MEDGEN:419753", "MESH:C536570", "OMIM:218400", "UMLS:C2931244"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).", "id": "MONDO:0009036", "name": "Cardiocranial syndrome, pfeiffer type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer-Singer-Zschiesche syndrome", "craniosynostosis-congenital heart disease-intellectual disability syndrome", "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis"], "xref": ["GARD:0008586", "MEDGEN:346598", "MESH:C535578", "OMIM:218450", "Orphanet:2872", "SCTID:720606005", "UMLS:C1857495", "icd11.foundation:629231429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009037", "name": "Craniosynostosis with anomalies of the cranial base and digits", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["craniosynostosis with anomalies of the cranial base and digits"], "xref": ["MEDGEN:347469", "MESH:C565666", "OMIM:218530", "UMLS:C1857493"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.", "id": "MONDO:0009038", "name": "Craniosynostosis-fibular aplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Lowry syndrome"], "xref": ["GARD:0024646", "MEDGEN:347468", "MESH:C565665", "OMIM:218550", "Orphanet:1533", "SCTID:732250002", "UMLS:C1857492"]}
{"category": ["biolink:Disease"], "description": "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).", "id": "MONDO:0009039", "name": "Baller-gerold syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baller-Gerold syndrome"], "xref": ["DOID:0050654", "GARD:0001602", "MEDGEN:120532", "MESH:C536788", "NANDO:1201059", "NORD:834", "OMIM:218600", "Orphanet:1225", "SCTID:77608001", "UMLS:C0265308", "icd11.foundation:1650688177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009040", "name": "Craniosynostosis-intellectual disability syndrome of 51n and gettig", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0010282", "MEDGEN:341781", "MESH:C565664", "OMIM:218649", "UMLS:C1857473"]}
{"category": ["biolink:Disease"], "description": "A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.", "id": "MONDO:0009041", "name": "Craniosynostosis-intellectual disability-clefting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Baraitser Rodeck garner syndrome", "craniosynostosis-intellectual disability-clefting syndrome", "craniosynostosis-mental retardation-clefting syndrome"], "xref": ["MEDGEN:387829", "MESH:C537906", "MESH:C565663", "OMIM:218650", "UMLS:C1857472"]}
{"category": ["biolink:Disease"], "description": "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0009042", "name": "Craniotelencephalic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["craniotelencephalic dysplasia"], "xref": ["GARD:0001605", "MEDGEN:347462", "MESH:C535597", "OMIM:218670", "Orphanet:1528", "SCTID:715422002", "UMLS:C1857471", "icd11.foundation:1684038717"]}
{"category": ["biolink:Disease"], "description": "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.", "id": "MONDO:0009043", "name": "Generalized resistance to thyroid hormone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GRTH", "Refetoff syndrome"], "xref": ["GARD:0000301", "MEDGEN:1654700", "Orphanet:3221", "UMLS:C4722330"]}
{"category": ["biolink:Disease"], "description": "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.", "id": "MONDO:0009044", "name": "Crigler-najjar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Crigler Najjar Syndrome", "Crigler-Najjar syndrome", "UGT deficiency", "bilirubin UDP glucuronyl transferase deficiency", "bilirubin uridinediphosphate glucuronosyltransferase deficiency", "bilirubin-UGT deficiency", "hereditary unconjugated hyperbilirubinemia"], "xref": ["DOID:3803", "GARD:0016526", "ICD10CM:E80.5", "MEDGEN:1789261", "MESH:D003414", "MedDRA:10011386", "NANDO:2100272", "NANDO:2200941", "NCIT:C84656", "NORD:1016", "Orphanet:205", "SCTID:28259009", "UMLS:C5551003", "icd11.foundation:291439191"]}
{"category": ["biolink:Disease"], "description": "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.", "id": "MONDO:0009045", "name": "Cataract-nephropathy-encephalopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["crome syndrome"], "xref": ["GARD:0001614", "MEDGEN:167082", "MESH:C536216", "OMIM:218900", "Orphanet:1380", "SCTID:722381004", "UMLS:C0795914"]}
{"category": ["biolink:Disease"], "description": "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.", "id": "MONDO:0009046", "name": "Fraser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Fraser syndrome", "cryptophthalmos-syndactyly syndrome"], "xref": ["DOID:0090001", "GARD:0006465", "MEDGEN:82692", "MESH:D058497", "NCIT:C118436", "NORD:1160", "OMIMPS:219000", "Orphanet:2052", "SCTID:204102004", "UMLS:C0265233", "icd11.foundation:968262849"]}
{"category": ["biolink:Disease"], "description": "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.", "id": "MONDO:0009047", "name": "Cryptorchidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cryptorchidism", "cryptorchidism (disease)", "undescended testes", "undescended testicle", "undescended testis"], "xref": ["DOID:11383", "EFO:0004562", "HP:0000028", "ICD9:752.5", "ICD9:752.51", "MEDGEN:8192", "MESH:D003456", "NCIT:C12326", "OMIM:219050", "SCTID:204878001", "UMLS:C0010417", "icd11.foundation:1134950387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009048", "name": "Curved nail of fourth toe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["curved nail of fourth toe"], "xref": ["MEDGEN:347457", "OMIM:219070", "UMLS:C1857452"]}
{"category": ["biolink:Disease"], "description": "A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.", "id": "MONDO:0009049", "name": "Cushing syndrome due to macronodular adrenal hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["ACTH-independent macronodular adrenal hyperplasia", "primary bilateral macronodular adrenal hyperplasia"], "xref": ["DOID:0111622", "EFO:0009041", "GARD:0010824", "MEDGEN:923388", "MESH:C565662", "NANDO:2200353", "OMIMPS:219080", "Orphanet:189427", "SCTID:720459002", "UMLS:C2062388"]}
{"category": ["biolink:Disease"], "description": "A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.", "id": "MONDO:0009050", "name": "Cushing disease due to pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ACTH producing pituitary adenoma", "Cushing disease", "Cushing disease, pituitary", "Cushing's disease", "PITA4", "corticotroph pituitary adenoma", "pituitary adenoma 4, ACTH-secreting", "pituitary adenoma 4, ACTH-secreting, somatic", "pituitary adenoma, ACTH-secreting", "pituitary corticotroph micro-adenoma", "pituitary dependent Cushing syndrome", "pituitary-dependent Cushing syndrome"], "xref": ["DOID:7004", "GARD:0012867", "MEDGEN:66381", "MESH:D049913", "MedDRA:10035109", "NANDO:1200379", "NANDO:2200350", "NCIT:C113210", "OMIM:219090", "Orphanet:96253", "SCTID:254958004", "UMLS:C0221406", "icd11.foundation:380861892"]}
{"category": ["biolink:Disease"], "description": "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.", "id": "MONDO:0009051", "name": "Cutaneous photosensitivity-lethal colitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001633", "MEDGEN:347455", "MESH:C536224", "OMIM:219095", "Orphanet:2881", "UMLS:C1857449"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.", "id": "MONDO:0009052", "name": "Cutis laxa, autosomal recessive, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCL1A"], "xref": ["DOID:0070135", "GARD:0015157", "MEDGEN:1846304", "MESH:C562628", "OMIM:219100", "SCTID:59451000", "UMLS:C5848058"]}
{"category": ["biolink:Disease"], "description": "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.", "id": "MONDO:0009053", "name": "Aldh18a1-related de barsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ARCL3A", "Delta-1-pyrroline 5-carboxylate synthetase deficiency", "neurocutaneous syndrome, Bicknell type"], "xref": ["DOID:0070132", "GARD:0016638", "ICD9:371.89", "MEDGEN:1720006", "OMIM:219150", "Orphanet:35664", "SCTID:59252009", "UMLS:C5234852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009054", "name": "Autosomal recessive cutis laxa type 2, classic type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ARCL2, Debré type", "ARCL2, classic type", "autosomal recessive cutis laxa type 2, Debre type", "autosomal recessive cutis laxa type 2, Debré type"], "xref": ["DOID:0070141", "GARD:0017546", "MEDGEN:1825992", "MESH:C562632", "Orphanet:357074", "SCTID:73856006", "UMLS:C5679922"]}
{"category": ["biolink:Disease"], "description": "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.", "id": "MONDO:0009055", "name": "Cutis marmorata telangiectatica congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMTC", "cutis marmorata telangiectatica congenita", "cutis marmorata telangiectatica congenita (disease)"], "xref": ["GARD:0006228", "HP:0025107", "ICD9:757.8", "MEDGEN:83381", "MESH:C536226", "OMIM:219250", "Orphanet:1556", "SCTID:254778000", "UMLS:C0345419", "icd11.foundation:1359154853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009056", "name": "Cutis verticis gyrata and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutis verticis gyrata and intellectual disability", "cutis verticis gyrata and mental retardation", "cutis verticis gyrata-intellectual disability syndrome"], "xref": ["MEDGEN:387821", "OMIM:219300", "Orphanet:1557", "UMLS:C1857444"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009057", "name": "Cyanosis and hepatic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cyanosis and hepatic disease"], "xref": ["MEDGEN:387820", "MESH:C565660", "OMIM:219400", "UMLS:C1857443"]}
{"category": ["biolink:Disease"], "description": "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.", "id": "MONDO:0009058", "name": "Cystathioninuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:mostly_harmless", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cystathionase deficiency", "cystathioninuria", "cystathioninuria (disease)", "gamma-cystathionase deficiency"], "xref": ["DOID:0090142", "GARD:0002428", "HP:0003153", "MEDGEN:66353", "NCIT:C129070", "OMIM:219500", "Orphanet:212", "SCTID:13003007", "UMLS:C0220993", "icd11.foundation:1415819835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009059", "name": "Cysteine peptiduria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cysteine Peptiduria"], "xref": ["MEDGEN:346587", "MESH:C565659", "OMIM:219550", "UMLS:C1857438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009060", "name": "Cystic disease of lung", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cystic disease of lung"], "xref": ["MEDGEN:278028", "MESH:C563237", "OMIM:219600", "UMLS:C1384901"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.", "id": "MONDO:0009061", "name": "Cystic fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CF", "cystic fibrosis", "cystic fibrosis lung disease, modifier of", "mucoviscidosis", "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis"], "xref": ["DOID:1485", "GARD:0006233", "ICD10CM:E84", "ICD10WHO:E84", "ICD9:277.0", "MEDGEN:41393", "MESH:D003550", "MedDRA:10011762", "NANDO:1200922", "NANDO:1201021", "NANDO:2100035", "NANDO:2200205", "NCIT:C2975", "NORD:1026", "OMIM:219700", "Orphanet:586", "SCTID:190905008", "UMLS:C0010674", "icd11.foundation:514403112"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.", "id": "MONDO:0009062", "name": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lubani-Al Saleh-Teebi syndrome"], "xref": ["GARD:0003303", "MEDGEN:812585", "MESH:C537039", "OMIM:219721", "Orphanet:2575", "SCTID:720401009", "UMLS:C3806255"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009063", "name": "Ventriculomegaly-cystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VMCKD", "congenital nephrosis-cerebral ventriculomegaly syndrome"], "xref": ["DOID:0111625", "GARD:0017757", "MEDGEN:346584", "OMIM:219730", "Orphanet:443988", "UMLS:C1857423"]}
{"category": ["biolink:Disease"], "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.", "id": "MONDO:0009064", "name": "Ocular cystinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["adult-onset cystinosis", "non-nephropathic cystinosis", "ocular cystinosis"], "xref": ["GARD:0009756", "MEDGEN:419313", "MESH:C535765", "NANDO:1200164", "NANDO:2201236", "OMIM:219750", "Orphanet:411641", "SCTID:25010000", "UMLS:C2931013"]}
{"category": ["biolink:Disease"], "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.", "id": "MONDO:0009066", "name": "Juvenile nephropathic cystinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["cystinosis, late-onset juvenile or adolescent nephropathic", "intermediate cystinosis", "juvenile cystinosis", "juvenile nephropathic cystinosis"], "xref": ["GARD:0017685", "MEDGEN:75701", "MESH:C562683", "NANDO:1200163", "NANDO:2201235", "OMIM:219900", "Orphanet:411634", "SCTID:22830006", "UMLS:C0268626", "icd11.foundation:422905632"]}
{"category": ["biolink:Disease"], "description": "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.", "id": "MONDO:0009067", "name": "Cystinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cystinuria", "cystinuria (disease)", "cystinuria-lysinuria syndrome"], "xref": ["DOID:9266", "GARD:0006237", "HP:0003131", "ICD10CM:E72.01", "MEDGEN:8226", "MESH:D003555", "MedDRA:10011778", "NANDO:2200489", "NCIT:C84664", "OMIM:220100", "Orphanet:214", "SCTID:85020001", "UMLS:C0010691", "icd11.foundation:1237620397"]}
{"category": ["biolink:Disease"], "description": "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.", "id": "MONDO:0009069", "name": "Congenital lactic acidosis, saguenay-lac-saint-jean type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COX deficiency, French-Canadian type", "Leigh syndrome, French-Canadian type", "Leigh syndrome, Saguenay-Lac-Saint-Jean type", "SLSJ-COX deficiency", "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "cytochrome C oxidase deficiency, French-Canadian type", "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type", "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)"], "xref": ["DOID:0111180", "GARD:0008370", "MEDGEN:387801", "MESH:C537004", "OMIM:220111", "Orphanet:70472", "SCTID:718219002", "UMLS:C1857355"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.", "id": "MONDO:0009070", "name": "D-glyceric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["D-glycerate kinase deficiency", "D-glyceric acidemia", "d-glyceric aciduria"], "xref": ["DOID:0111626", "GARD:0000234", "MEDGEN:452447", "MESH:C535767", "NCIT:C128804", "OMIM:220120", "Orphanet:941", "SCTID:237980004", "UMLS:C0342765"]}
{"category": ["biolink:Disease"], "description": "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).", "id": "MONDO:0009071", "name": "Hereditary renal hypouricemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009496", "ICD9:790.6", "MEDGEN:1643078", "MESH:C537757", "Orphanet:94088", "SCTID:236478009", "UMLS:C4551590", "icd11.foundation:479364233"]}
{"category": ["biolink:Disease"], "description": "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.", "id": "MONDO:0009072", "name": "Dandy-walker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dandy Walker Malformation", "Dandy-Walker syndrome", "Dandy-Walker syndrome, Isolated cases"], "xref": ["DOID:2785", "EFO:1000890", "GARD:0006242", "MEDGEN:4150", "MESH:D003616", "MedDRA:10048411", "NANDO:2200821", "NCIT:C75012", "NORD:1032", "OMIM:220200", "Orphanet:217", "SCTID:14447001", "UMLS:C0010964", "icd11.foundation:993088960"]}
{"category": ["biolink:Disease"], "description": "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.", "id": "MONDO:0009073", "name": "Ritscher-schinzel syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Ritscher-Schinzel syndrome 1", "Ritscher-Schinzel syndrome caused by mutation in WASHC5", "Ritscher-Schinzel syndrome type 1", "WASHC5 Ritscher-Schinzel syndrome"], "xref": ["DOID:0060571", "GARD:0015160", "MEDGEN:1634646", "OMIM:220210", "UMLS:C4551776"]}
{"category": ["biolink:Disease"], "description": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.", "id": "MONDO:0009074", "name": "Facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002222", "MEDGEN:341752", "MESH:C535985", "OMIM:220219", "Orphanet:1970", "UMLS:C1857352"]}
{"category": ["biolink:Disease"], "description": "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.", "id": "MONDO:0009075", "name": "Dandy-walker malformation-postaxial polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DWM with postaxial polydactyly", "Pierquin syndrome"], "xref": ["GARD:0001669", "MEDGEN:341751", "MESH:C535771", "OMIM:220220", "Orphanet:1566", "SCTID:733094005", "UMLS:C1857351"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.", "id": "MONDO:0009076", "name": "Autosomal recessive nonsyndromic hearing loss 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["GJB2-AR NSHL", "GJB2-related autosomal recessive nonsyndromic hearing loss", "autosomal recessive nonsyndromic hearing loss 1A"], "xref": ["DOID:0110475", "GARD:0001697", "MEDGEN:388720", "MESH:C567134", "NCIT:C129022", "OMIM:220290", "UMLS:C2673759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009077", "name": "Deafness, congenital, and familial myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, congenital, and familial myoclonic epilepsy"], "xref": ["MEDGEN:346569", "MESH:C565649", "OMIM:220300", "UMLS:C1857348"]}
{"category": ["biolink:Disease"], "description": "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.", "id": "MONDO:0009079", "name": "Doors syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DOORS syndrome", "autosomal recessive deafness-onychodystrophy syndrome", "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "deafness-onychoosteodystrophy-intellectual disability syndrome", "door syndrome"], "xref": ["DOID:0111627", "GARD:0001685", "MEDGEN:208648", "MESH:C563052", "NORD:1058", "OMIM:220500", "Orphanet:79500", "SCTID:719800009", "UMLS:C0795934"]}
{"category": ["biolink:Disease"], "description": "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.", "id": "MONDO:0009080", "name": "Split hand-foot malformation 1 with sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHFM1D", "split hand-foot malformation 1 with sensorineural hearing loss", "split-hand/foot malformation 1 with sensorineural hearing loss"], "xref": ["DOID:0090024", "GARD:0016686", "MEDGEN:347431", "MESH:C565647", "OMIM:220600", "Orphanet:71271", "SCTID:723611008", "UMLS:C1857344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009081", "name": "Deafness, congenital, with total albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["deafness, congenital, with total albinism"], "xref": ["GARD:0024647", "MEDGEN:387799", "MESH:C565646", "OMIM:220900", "UMLS:C1857343"]}
{"category": ["biolink:Disease"], "description": "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.", "id": "MONDO:0009082", "name": "High myopia-sensorineural deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["high myopia-sensorineural deafness syndrome"], "xref": ["DOID:0111628", "GARD:0012844", "MEDGEN:812605", "OMIM:221200", "Orphanet:363396", "SCTID:720506002", "UMLS:C3806275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009083", "name": "Conductive deafness-malformed external ear syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mengel-Konigsmark syndrome", "conductive hearing loss-malformed external ear syndrome"], "xref": ["GARD:0001460", "MEDGEN:347429", "MESH:C565644", "OMIM:221300", "Orphanet:3216", "UMLS:C1857341"]}
{"category": ["biolink:Disease"], "description": "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.", "id": "MONDO:0009084", "name": "Conductive deafness-ptosis-skeletal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jackson-Barr syndrome"], "xref": ["GARD:0000305", "MEDGEN:347428", "MESH:C535993", "OMIM:221320", "Orphanet:3236", "SCTID:763213001", "UMLS:C1857340"]}
{"category": ["biolink:Disease"], "description": "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.", "id": "MONDO:0009085", "name": "Deafness-vitiligo-achalasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001705", "MEDGEN:347427", "MESH:C565642", "OMIM:221350", "Orphanet:3239", "UMLS:C1857339"]}
{"category": ["biolink:Disease"], "description": "Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).", "id": "MONDO:0009086", "name": "Deafness-small bowel diverticulosis-neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Groll-Hirschowitz syndrome"], "xref": ["GARD:0002568", "MEDGEN:347426", "MESH:C537305", "OMIM:221400", "Orphanet:3217", "SCTID:733071009", "UMLS:C1857338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009087", "name": "Deafness, neural, congenital moderate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, neural, congenital moderate"], "xref": ["MEDGEN:347425", "MESH:C565640", "OMIM:221500", "UMLS:C1857337"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009088", "name": "Deafness, neural, with atypical atopic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, neural, with atypical atopic dermatitis"], "xref": ["MEDGEN:346567", "MESH:C565639", "OMIM:221700", "UMLS:C1857334"]}
{"category": ["biolink:Disease"], "description": "Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.", "id": "MONDO:0009089", "name": "Deafness-oligodontia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness-oligodontia syndrome"], "xref": ["GARD:0001698", "MEDGEN:387798", "MESH:C538049", "OMIM:221740", "Orphanet:3230", "UMLS:C1857333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009090", "name": "Hearing loss, sensorineural, autosomal-mitochondrial type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111752", "GARD:0018159", "MEDGEN:346566", "MESH:C565637", "OMIM:221745", "UMLS:C1857332"]}
{"category": ["biolink:Disease"], "description": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.", "id": "MONDO:0009091", "name": "Non-acquired combined pituitary hormone deficiency with spine abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-acquired combined pituitary hormone deficiency with spine abnormalities", "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome", "pituitary hormone deficiency, combined, type 3"], "xref": ["DOID:0061021", "GARD:0010603", "MEDGEN:483740", "MESH:C536710", "OMIM:221750", "Orphanet:231720", "UMLS:C3489787"]}
{"category": ["biolink:Disease"], "description": "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.", "id": "MONDO:0009092", "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NHD", "Nasu-Hakola disease", "PLO-SL", "PLOSL", "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"], "xref": ["DOID:0090112", "GARD:0009921", "ICD9:758.89", "MEDGEN:387795", "NANDO:1200658", "OMIMPS:221770", "Orphanet:2770", "SCTID:702347001", "UMLS:C1857316"]}
{"category": ["biolink:Disease"], "description": "Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.", "id": "MONDO:0009093", "name": "Dermatoleukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dermatoleukodystrophy"], "xref": ["GARD:0001813", "MEDGEN:387794", "MESH:C538220", "OMIM:221790", "Orphanet:1659", "SCTID:733044009", "UMLS:C1857314"]}
{"category": ["biolink:Disease"], "description": "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.", "id": "MONDO:0009094", "name": "Dermochondrocorneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FranC'ois syndrome", "François syndrome", "dermochondrocorneal dystrophy"], "xref": ["GARD:0001815", "ICD9:379.99", "MEDGEN:98151", "MESH:C535375", "OMIM:221800", "Orphanet:79149", "SCTID:254150007", "UMLS:C0432288", "icd11.foundation:1305138145"]}
{"category": ["biolink:Disease"], "description": "Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.", "id": "MONDO:0009095", "name": "Dermatoosteolysis, kirghizian type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dermatoosteolysis, Kirghizian type"], "xref": ["GARD:0001814", "MEDGEN:341742", "MESH:C535373", "OMIM:221810", "Orphanet:1657", "SCTID:721090002", "UMLS:C1857301", "icd11.foundation:2019080941"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of persistent hyperplastic primary vitreous.", "id": "MONDO:0009097", "name": "Persistent hyperplastic primary vitreous, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive persistent hyperplastic primary vitreous", "persistent hyperplastic primary vitreous, autosomal recessive"], "xref": ["GARD:0018167", "MEDGEN:370100", "MESH:C566966", "OMIM:221900", "Orphanet:300337", "UMLS:C1969783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009098", "name": "Dextrocardia with unusual facies and microphthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dextrocardia with unusual facies and microphthalmia"], "xref": ["MEDGEN:346559", "MESH:C538269", "OMIM:221950", "UMLS:C1857298"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.", "id": "MONDO:0009099", "name": "Nephrogenic diabetes insipidus-intracranial calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Schofer-Beetz-Bohl syndrome"], "xref": ["GARD:0000259", "MEDGEN:387791", "OMIM:221995", "Orphanet:3145", "SCTID:716200002", "UMLS:C1857297"]}
{"category": ["biolink:Disease"], "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.", "id": "MONDO:0009101", "name": "Wolfram syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WFS1", "WFS1 Wolfram syndrome", "Wolfram syndrome 1", "Wolfram syndrome caused by mutation in WFS1", "Wolfram syndrome type 1"], "xref": ["DOID:0110629", "GARD:0024648", "MEDGEN:1641635", "OMIM:222300", "UMLS:C4551693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009102", "name": "Diaminopentanuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Diaminopentanuria"], "xref": ["MEDGEN:347412", "MESH:C565630", "OMIM:222350", "UMLS:C1857285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009103", "name": "Diaphragmatic hernia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diaphragmatic hernia 2", "hernia, congenital diaphragmatic 2"], "xref": ["GARD:0015161", "MEDGEN:347411", "MESH:C565629", "OMIM:222400", "UMLS:C1857284"]}
{"category": ["biolink:Disease"], "description": "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.", "id": "MONDO:0009104", "name": "Donnai-barrow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DBS/FOAR syndrome", "Donnai-Barrow syndrome", "FOAR syndrome", "Holmes-Schepens syndrome", "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria", "diaphragmatic hernia-exomphalos-hypertelorism syndrome", "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome", "facio-oculo-acoustico-renal syndrome", "faciooculoacousticorenal syndrome", "syndrome of ocular and facial anomalies, telecanthus and deafness"], "xref": ["DOID:0090144", "GARD:0001899", "ICD9:759.89", "MEDGEN:347406", "MESH:C536390", "OMIM:222448", "Orphanet:2143", "SCTID:702418009", "UMLS:C1857277"]}
{"category": ["biolink:Disease"], "description": "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.", "id": "MONDO:0009105", "name": "Trichohepatoenteric syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SD/THE", "Tricho-hepato-enteric syndrome", "Trichohepatoenteric syndrome", "Trichohepatoenteric syndrome type 1", "phenotypic diarrhea", "phenotypic diarrhoea", "syndromic diarrhea", "syndromic diarrhea/Tricho-hepato-enteric syndrome", "syndromic diarrhoea"], "xref": ["DOID:0111414", "GARD:0005258", "MEDGEN:347405", "OMIMPS:222470", "Orphanet:84064", "SCTID:703406006", "UMLS:C1857276", "icd11.foundation:1470910753"]}
{"category": ["biolink:Disease"], "description": "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.", "id": "MONDO:0009106", "name": "Diastematomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["SSCM", "diastematomyelia", "split cord malformation", "split spinal cord malformation"], "xref": ["GARD:0001851", "ICD10CM:Q06.2", "ICD9:742.51", "MEDGEN:3801", "MedDRA:10012750", "NCIT:C98913", "OMIM:222500", "Orphanet:573278", "SCTID:49351009", "UMLS:C0011999", "icd11.foundation:2070601288"]}
{"category": ["biolink:Disease"], "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).", "id": "MONDO:0009107", "name": "Diastrophic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["diastrophic dysplasia"], "xref": ["DOID:14687", "GARD:0006275", "ICD10CM:Q77.5", "ICD9:756.89", "MEDGEN:113103", "MESH:C536170", "NCIT:C156311", "NORD:1051", "OMIM:222600", "Orphanet:628", "SCTID:58561002", "UMLS:C0220726", "icd11.foundation:1681550532"]}
{"category": ["biolink:Disease"], "description": "Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.", "id": "MONDO:0009108", "name": "Hyperdibasic aminoaciduria type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["dibasic amino aciduria type 1"], "xref": ["GARD:0001854", "MEDGEN:435997", "MESH:C567132", "OMIM:222690", "Orphanet:1032", "UMLS:C2673736", "icd11.foundation:1522058907"]}
{"category": ["biolink:Disease"], "description": "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.", "id": "MONDO:0009109", "name": "Lysinuric protein intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LPI", "hyperdibasic aminoaciduria", "hyperdibasic aminoaciduria type 2", "lysinuric protein intolerance"], "xref": ["DOID:0060439", "GARD:0003335", "ICD9:270.8", "MEDGEN:75704", "MESH:C562687", "MedDRA:10058300", "NANDO:1200809", "NANDO:2200488", "NCIT:C121563", "OMIM:222700", "Orphanet:470", "SCTID:303852004", "UMLS:C0268647", "icd11.foundation:972050440"]}
{"category": ["biolink:Disease"], "description": "Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.", "id": "MONDO:0009110", "name": "Dicarboxylic aminoaciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dicarboxylic aminoaciduria", "glutamate-aspartate transport defect"], "xref": ["DOID:0060650", "GARD:0001855", "MEDGEN:387782", "MESH:C536171", "OMIM:222730", "Orphanet:2195", "SCTID:716747007", "UMLS:C1857253", "icd11.foundation:1947265216"]}
{"category": ["biolink:Disease"], "description": "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.", "id": "MONDO:0009111", "name": "Dihydropyrimidinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dihydropyrimidinase deficiency", "dihydropyrimidinuria"], "xref": ["DOID:0111629", "GARD:0012347", "ICD9:277.2", "MEDGEN:83353", "OMIM:222748", "Orphanet:38874", "SCTID:238014002", "UMLS:C0342803"]}
{"category": ["biolink:Disease"], "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.", "id": "MONDO:0009112", "name": "Rhizomelic chondrodysplasia punctata type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Dhapat deficiency", "Dihydroxyacetonephosphate acyltransferase deficiency", "GNPAT rhizomelic chondrodysplasia punctata", "RCDP2", "Rcdp2", "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency", "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency", "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT", "rhizomelic chondrodysplasia punctata type 2", "rhizomelic chondrodysplasia punctata, type 2", "type 2 rhizomelic chondrodysplasia punctata"], "xref": ["DOID:0110852", "GARD:0009429", "MEDGEN:341734", "MESH:C537607", "NANDO:1200771", "OMIM:222765", "Orphanet:309796", "UMLS:C1857242", "icd11.foundation:179969811"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.", "id": "MONDO:0009113", "name": "Hemolytic anemia due to diphosphoglycerate mutase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["diphosphoglycerate phosphatase deficiency", "erythrocytosis, familial, 8"], "xref": ["DOID:0111630", "GARD:0001874", "MEDGEN:489898", "NCIT:C131638", "OMIM:222800", "Orphanet:714", "UMLS:C1291620"]}
{"category": ["biolink:Disease"], "description": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.", "id": "MONDO:0009114", "name": "Congenital sucrase-isomaltase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CSID", "congenital sucrase-isomaltase deficiency", "congenital sucrose intolerance", "disaccharide intolerance", "genetic sucrase-isomaltose malabsorption", "sucrase-isomaltase deficiency"], "xref": ["DOID:0111633", "GARD:0006183", "ICD9:271.3", "MEDGEN:220924", "MESH:C538139", "MedDRA:10066387", "NANDO:2200908", "NCIT:C128190", "NORD:1056", "OMIM:222900", "Orphanet:35122", "SCTID:78373000", "UMLS:C1283620", "icd11.foundation:1817406536"]}
{"category": ["biolink:Disease"], "description": "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.", "id": "MONDO:0009115", "name": "Congenital lactase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital lactase deficiency"], "xref": ["DOID:0111646", "GARD:0012311", "ICD10CM:E73.0", "ICD9:271.3", "MEDGEN:120617", "MESH:C562600", "OMIM:223000", "Orphanet:53690", "SCTID:5388008", "UMLS:C0268179", "icd11.foundation:2109252471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009118", "name": "Disseminated sclerosis with narcolepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disseminated sclerosis with narcolepsy"], "xref": ["MEDGEN:341731", "MESH:C565621", "OMIM:223300", "UMLS:C1857229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009119", "name": "Diverticulosis, small-intestinal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diverticulosis, small-intestinal"], "xref": ["MEDGEN:341730", "MESH:C565620", "OMIM:223320", "UMLS:C1857228"]}
{"category": ["biolink:Disease"], "description": "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.", "id": "MONDO:0009120", "name": "Diverticulosis of bowel, hernia, and retinal detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diverticulosis of bowel, hernia, and retinal detachment", "marfanoid syndrome, De Silva type"], "xref": ["GARD:0003401", "MEDGEN:341729", "MESH:C565619", "OMIM:223330", "Orphanet:2464", "UMLS:C1857227"]}
{"category": ["biolink:Disease"], "description": "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.", "id": "MONDO:0009121", "name": "Von voss-cherstvoy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DK phocomelia syndrome", "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome", "von Voss-Cherstvoy syndrome"], "xref": ["GARD:0001894", "MEDGEN:341728", "MESH:C565618", "OMIM:223340", "Orphanet:3439", "SCTID:719021005", "UMLS:C1857226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009122", "name": "Dohle bodies and leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dohle bodies and leukemia"], "xref": ["MEDGEN:346548", "MESH:C565617", "OMIM:223350", "UMLS:C1857225"]}
{"category": ["biolink:Disease"], "description": "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.", "id": "MONDO:0009123", "name": "Orthostatic hypotension 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dopamine beta-hydroxylase deficiency", "noradrenaline deficiency", "norepinephrine deficiency", "orthostatic hypotension 1, due to DBH deficiency"], "xref": ["DOID:0090145", "GARD:0001903", "ICD9:270.8", "MEDGEN:1648402", "MESH:C535600", "NANDO:2200597", "OMIM:223360", "Orphanet:230", "SCTID:237923004", "UMLS:C4746777"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.", "id": "MONDO:0009124", "name": "Dubowitz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dubowitz syndrome"], "xref": ["DOID:14796", "GARD:0006290", "ICD9:742.8", "MEDGEN:59797", "MESH:C535718", "MedDRA:10059589", "NCIT:C125591", "NORD:1064", "OMIM:223370", "Orphanet:235", "SCTID:2593002", "UMLS:C0175691", "icd11.foundation:758537040"]}
{"category": ["biolink:Disease"], "description": "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.", "id": "MONDO:0009126", "name": "Duodenal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duodenal Atresia or Stenosis", "atresia of duodenum", "congenital atresia of duodenum", "congenital duodenal atresia", "duodenal atresia", "duodenal atresia (disease)"], "xref": ["DOID:0080216", "GARD:0000054", "HP:0002247", "ICD9:751.1", "MEDGEN:75602", "MESH:C535720", "MedDRA:10013812", "NCIT:C101025", "NORD:1066", "OMIM:223400", "Orphanet:1203", "SCTID:51118003", "UMLS:C0266174", "icd11.foundation:295550633"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009127", "name": "Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism, low-birth-weight type, with unresponsiveness to growth hormone"], "xref": ["MEDGEN:387764", "MESH:C565615", "OMIM:223500", "UMLS:C1857197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009128", "name": "Dwarfism, intellectual disability, and eye abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism, intellectual disability, and eye abnormality", "dwarfism, mental retardation, and eye abnormality"], "xref": ["MEDGEN:208664", "MESH:C535809", "OMIM:223540", "Orphanet:2650", "UMLS:C0796076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009129", "name": "Dwarfism, proportionate, with hip dislocation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism, proportionate, with hip dislocation"], "xref": ["MEDGEN:347392", "MESH:C565614", "OMIM:223550", "UMLS:C1857196"]}
{"category": ["biolink:Disease"], "description": "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.", "id": "MONDO:0009130", "name": "Dyggve-melchior-clausen disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dyggve Melchior Clausen syndrome", "Dyggve-Melchior-Clausen disease", "Dyggve-Melchior-Clausen syndrome"], "xref": ["DOID:0111167", "GARD:0006295", "MEDGEN:120527", "NCIT:C124844", "NORD:1068", "OMIM:223800", "Orphanet:239", "SCTID:82699004", "UMLS:C0265286", "icd11.foundation:21266164"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.", "id": "MONDO:0009131", "name": "Riley-day syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dysautonomia, Familial", "HSAN 3", "HSAN III", "HSAN3", "HSN 3", "Riley Day syndrome", "Riley-Day syndrome", "familial dysautonomia", "hereditary sensory and autonomic neuropathy 3", "hereditary sensory and autonomic neuropathy type 3", "hereditary sensory and autonomic neuropathy type III", "hereditary sensory neuropathy type 3", "neuropathy, hereditary sensory and autonomic, type 3", "neuropathy, hereditary sensory and autonomic, type III"], "xref": ["DOID:11589", "GARD:0007581", "ICD10CM:G90.1", "MEDGEN:41678", "MESH:D004402", "MedDRA:10039179", "NCIT:C84706", "NORD:1069", "OMIM:223900", "Orphanet:1764", "SCTID:29159009", "UMLS:C0013364", "icd11.foundation:831377479"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009132", "name": "Dysautonomia-like disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dysautonomia-like disorder"], "xref": ["MEDGEN:347385", "MESH:C535728", "OMIM:224000", "UMLS:C1857153"]}
{"category": ["biolink:Disease"], "description": "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.", "id": "MONDO:0009133", "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["CAMRQ syndrome", "cerebellar ataxia, mental retardation and dysequlibrium syndrome", "cerebellar ataxia, mental retardation, and dysequilibrium", "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome", "dialysis dysequilibrium syndrome", "dysequilibrium syndrome", "non-progressive cerebellar ataxia-intellectual disability syndrome"], "xref": ["DOID:0050997", "GARD:0001998", "MEDGEN:98295", "MESH:C535731", "MedDRA:10013140", "NCIT:C114781", "OMIMPS:224050", "Orphanet:1766", "SCTID:230782004", "UMLS:C0394006"]}
{"category": ["biolink:Disease"], "description": "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.", "id": "MONDO:0009134", "name": "Congenital dyserythropoietic anemia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDA II", "CDA type 2", "CDA type II", "SEC23B-CDG", "congenital dyserythropoietic anemia type 2", "dyserythropoietic anemia, congenital, type II", "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"], "xref": ["DOID:0111401", "GARD:0002001", "ICD9:285.8", "MEDGEN:266296", "NANDO:1200887", "OMIM:224100", "Orphanet:98873", "SCTID:68870007", "UMLS:C1306589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009135", "name": "Anemia, congenital dyserythropoietic, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anemia, congenital dyserythropoietic, type 1a", "anemia, congenital dyserythropoietic, type Ia"], "xref": ["DOID:0111398", "GARD:0024649", "MEDGEN:1807106", "OMIM:224120", "UMLS:C5574667"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.", "id": "MONDO:0009136", "name": "Dyskeratosis congenita, autosomal recessive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:prototype_pattern", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB1", "dyskeratosis congenita, autosomal recessive 1", "dyskeratosis congenita, autosomal recessive type 1"], "xref": ["DOID:0070015", "GARD:0006300", "MEDGEN:341705", "MESH:C565611", "NCIT:C176925", "OMIM:224230", "SCTID:707272006", "UMLS:C1857144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009137", "name": "Dysmyelination with jaundice", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dysmyelination with jaundice"], "xref": ["MEDGEN:346526", "MESH:C565610", "OMIM:224250", "UMLS:C1857143"]}
{"category": ["biolink:Disease"], "description": "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.", "id": "MONDO:0009138", "name": "Dysosteosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dysosteosclerosis"], "xref": ["GARD:0002012", "ICD9:756.9", "MEDGEN:98150", "MESH:C562973", "NANDO:2201365", "OMIM:224300", "Orphanet:1782", "SCTID:254123002", "UMLS:C0432262", "icd11.foundation:1853176074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009139", "name": "Dyssegmental dysplasia, rolland-desbuquois type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dyssegmental dysplasia, Rolland-Desbuquois type"], "xref": ["GARD:0009810", "ICD9:756.59", "MEDGEN:98145", "MESH:C537999", "OMIM:224400", "Orphanet:156731", "SCTID:95243004", "UMLS:C0432209", "icd11.foundation:1291444727"]}
{"category": ["biolink:Disease"], "description": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.", "id": "MONDO:0009140", "name": "Silverman-handmaker type dyssegmental dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0090032", "GARD:0002026", "ICD9:759.89", "MEDGEN:347372", "MESH:C537998", "OMIM:224410", "Orphanet:1865", "SCTID:93132001", "UMLS:C1857100"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.", "id": "MONDO:0009141", "name": "Torsion dystonia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT2", "HPCA dystonic disorder", "autosomal recessive torsion dystonia 2", "dystonic disorder caused by mutation in HPCA", "torsion dystonia type 2"], "xref": ["DOID:0090038", "GARD:0002028", "MEDGEN:346511", "MESH:C538006", "NANDO:1200513", "NCIT:C123415", "OMIM:224500", "Orphanet:99657", "UMLS:C1857093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009142", "name": "Dystonia with ringbinden", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dystonia with Ringbinden"], "xref": ["MEDGEN:346509", "MESH:C565608", "OMIM:224550", "UMLS:C1857089"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.", "id": "MONDO:0009143", "name": "Meier-gorlin syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Meier-Gorlin syndrome 1", "Meier-Gorlin syndrome caused by mutation in ORC1", "Meier-Gorlin syndrome type 1", "ORC1 Meier-Gorlin syndrome"], "xref": ["DOID:0080512", "GARD:0015162", "ICD9:759.89", "MEDGEN:1641240", "OMIM:224690", "SCTID:703508009", "UMLS:C4552001"]}
{"category": ["biolink:Disease"], "description": "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.", "id": "MONDO:0009144", "name": "Ebstein anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ebstein anomaly", "Ebstein anomaly (disease)", "Ebstein anomaly of the tricuspid valve", "Ebstein's anomaly", "Ebstein's anomaly (disorder) [ambiguous]", "Ebstein's anomaly of tricuspid valve"], "xref": ["DOID:14289", "EFO:0007244", "GARD:0006313", "ICD10CM:Q22.5", "ICD9:746.2", "MEDGEN:4435", "MESH:D004437", "MedDRA:10014075", "NANDO:1200711", "NANDO:2100080", "NANDO:2200260", "NCIT:C84681", "OMIM:224700", "Orphanet:1880", "UMLS:C0013481", "icd11.foundation:307157712"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.", "id": "MONDO:0009145", "name": "Schöpf-schulz-passarge syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SSPS", "eccrine tumors-ectodermal dysplasia", "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome", "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome", "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome"], "xref": ["DOID:0111647", "GARD:0016649", "ICD9:758.89", "MEDGEN:347366", "MESH:C565607", "OMIM:224750", "Orphanet:50944", "SCTID:700062000", "UMLS:C1857069"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.", "id": "MONDO:0009146", "name": "Ectodermal dysplasia-sensorineural deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia-sensorineural hearing loss syndrome"], "xref": ["GARD:0009723", "MEDGEN:346503", "MESH:C535757", "MESH:C565606", "OMIM:224800", "Orphanet:1883", "UMLS:C1857068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009147", "name": "Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"], "xref": ["DOID:0111665", "GARD:0015163", "MEDGEN:854356", "OMIM:224900", "UMLS:C3887494"]}
{"category": ["biolink:Disease"], "description": "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene", "id": "MONDO:0009148", "name": "Rosselli-gulienetti syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:speculative"], "synonym": ["Rosselli-Gulienetti syndrome"], "xref": ["GARD:0024650", "MEDGEN:163221", "MESH:C563117", "OMIM:225000", "Orphanet:90339", "UMLS:C0796139", "icd11.foundation:1430451924"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.", "id": "MONDO:0009149", "name": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016578", "MEDGEN:347363", "MESH:C565605", "OMIM:225040", "Orphanet:1812", "UMLS:C1857053"]}
{"category": ["biolink:Disease"], "description": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.", "id": "MONDO:0009150", "name": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HEDH syndrome", "another syndrome"], "xref": ["GARD:0002049", "MEDGEN:384046", "MESH:C565604", "OMIM:225050", "Orphanet:1882", "SCTID:239050000", "UMLS:C1857052"]}
{"category": ["biolink:Disease"], "description": "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.", "id": "MONDO:0009151", "name": "Cleft lip/palate-ectodermal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Zlotogora-Ogur syndrome", "cleft lip/palate-ectodermal dysplasia syndrome", "cleft lip/palate-syndactyly-pili torti syndrome", "syndactyly-ectodermal dysplasia-cleft/lip palate"], "xref": ["DOID:0060773", "GARD:0000375", "MEDGEN:444067", "NCIT:C122656", "OMIM:225060", "Orphanet:320317", "Orphanet:3253", "SCTID:716248001", "UMLS:C2931488"]}
{"category": ["biolink:Disease"], "description": "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.", "id": "MONDO:0009152", "name": "Ectopia lentis 2, isolated, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ECTOL2", "ectopia lentis 2, isolated, autosomal recessive", "ectopia lentis, isolated, autosomal recessive"], "xref": ["DOID:0111149", "GARD:0002060", "MEDGEN:762100", "OMIM:225100", "UMLS:C3541474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009153", "name": "Ectopia lentis et pupillae", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ectopia lentis et pupillae"], "xref": ["DOID:0111648", "GARD:0015164", "MEDGEN:301316", "MESH:C563268", "OMIM:225200", "SCTID:419237004", "UMLS:C1644196"]}
{"category": ["biolink:Disease"], "description": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.", "id": "MONDO:0009154", "name": "Hypothyroidism, congenital, nongoitrous, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHNG5", "NKX2-5 hypothyroidism, congenital, nongoitrous", "hypothyroidism, congenital nongoitrous, 5", "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5", "hypothyroidism, congenital, nongoitrous, 5", "hypothyroidism, congenital, nongoitrous, type 5"], "xref": ["DOID:0070125", "GARD:0015165", "MEDGEN:388687", "MESH:C567123", "OMIM:225250", "UMLS:C2673630"]}
{"category": ["biolink:Disease"], "description": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).", "id": "MONDO:0009155", "name": "Eem syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EEM syndrome", "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"], "xref": ["DOID:0111649", "GARD:0002078", "MEDGEN:341679", "MESH:C536190", "OMIM:225280", "Orphanet:1897", "SCTID:720856002", "UMLS:C1857041"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0009156", "name": "Ectrodactyly-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectrodactyly polydactyly", "ectrodactyly-polydactyly"], "xref": ["GARD:0002068", "MEDGEN:384042", "MESH:C565601", "OMIM:225290", "Orphanet:1892", "UMLS:C1857040"]}
{"category": ["biolink:Disease"], "description": "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.", "id": "MONDO:0009157", "name": "Split hand-foot malformation 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFM6", "WNT10B split hand-foot malformation", "split hand-foot malformation caused by mutation in WNT10B", "split hand-foot malformation type 6", "split-hand/foot malformation type 6"], "xref": ["DOID:0090026", "GARD:0015166", "MEDGEN:440845", "MESH:C567616", "OMIM:225300", "UMLS:C2749665"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.", "id": "MONDO:0009158", "name": "Ehlers-danlos syndrome, fibronectinemic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["EDS X", "Ehlers-Danlos syndrome type 10", "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality", "Ehlers-Danlos syndrome, fibronectin-deficient"], "xref": ["GARD:0008508", "MEDGEN:346497", "MESH:C565600", "OMIM:225310", "Orphanet:75501", "SCTID:83586000", "UMLS:C1857038"]}
{"category": ["biolink:Disease"], "description": "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.", "id": "MONDO:0009159", "name": "Ehlers-danlos syndrome, cardiac valvular type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type", "EDS, cardiac valvular type", "EDSCV", "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form", "cardiac valvular form of Ehlers-Danlos syndrome", "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome", "cardiac-valvular EDS", "cardiac-valvular Ehlers-Danlos syndrome", "cvEDS"], "xref": ["DOID:0080730", "GARD:0012613", "MEDGEN:929458", "MESH:C536200", "OMIM:225320", "Orphanet:230851", "SCTID:720858001", "UMLS:C4303789", "icd11.foundation:531375176"]}
{"category": ["biolink:Disease"], "description": "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.", "id": "MONDO:0009161", "name": "Ehlers-danlos syndrome, dermatosparaxis type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS VIIC", "Ehlers-Danlos syndrome type 7C", "Ehlers-Danlos syndrome, dermatosparaxis type"], "xref": ["DOID:0080733", "GARD:0002089", "MEDGEN:397792", "MESH:C567527", "NANDO:1200651", "NANDO:2201261", "OMIM:225410", "Orphanet:1901", "SCTID:55711009", "UMLS:C2700425", "icd11.foundation:445808781"]}
{"category": ["biolink:Disease"], "description": "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.", "id": "MONDO:0009162", "name": "Ellis-van creveld syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chondroectodermal dysplasia", "EVC", "Ellis Van Creveld Syndrome", "Ellis Van Creveld syndrome", "Ellis-VAN Creveld syndrome", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia", "mesodermic dysplasia"], "xref": ["DOID:12714", "GARD:0001301", "ICD10CM:Q77.6", "ICD9:756.55", "MEDGEN:8584", "MESH:D004613", "MedDRA:10008724", "NCIT:C84684", "NORD:1083", "OMIM:225500", "Orphanet:289", "SCTID:62501005", "UMLS:C0013903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009163", "name": "Encephalomalacia, multilocular", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["encephalomalacia, multilocular"], "xref": ["MEDGEN:341670", "MESH:C565597", "OMIM:225700", "UMLS:C1856991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009164", "name": "Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts"], "xref": ["MEDGEN:341669", "MESH:C565596", "OMIM:225740", "UMLS:C1856990"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.", "id": "MONDO:0009165", "name": "Aicardi-goutieres syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 1", "Aicardi-Goutieres syndrome 1, dominant and recessive", "Aicardi-Goutieres syndrome caused by mutation in TREX1", "Aicardi-Goutieres syndrome type 1", "TREX1 Aicardi-Goutieres syndrome"], "xref": ["GARD:0015167", "MEDGEN:162912", "NCIT:C165501", "OMIM:225750", "UMLS:C0796126"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.", "id": "MONDO:0009166", "name": "Pontocerebellar hypoplasia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH4", "fatal infantile encephalopathy with olivopontocerebellar hypoplasia", "olivopontocerebellar hypoplasia"], "xref": ["DOID:0060273", "GARD:0000343", "MEDGEN:384027", "MESH:C536716", "OMIM:225753", "Orphanet:166063", "SCTID:718608006", "UMLS:C1856974", "icd11.foundation:447667859"]}
{"category": ["biolink:Disease"], "description": "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.", "id": "MONDO:0009167", "name": "Bonnemann-meinecke-reich syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["encephalopathy-intracerebral calcification-retinal degeneration syndrome"], "xref": ["GARD:0002113", "MEDGEN:346482", "MESH:C565594", "OMIM:225755", "Orphanet:1261", "SCTID:733049004", "UMLS:C1856973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009168", "name": "Fowler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Encephaloclastic proliferative vasculopathy", "Fowler syndrome", "cerebral proliferative glomeruloid vasculopathy", "hydrocephaly/hydranencephaly due to cerebral vasculopathy", "proliferative vasculopathy and hydranencephaly/hydrocephaly"], "xref": ["DOID:0111666", "GARD:0017138", "ICD9:596.59", "MEDGEN:384026", "MESH:C565593", "MedDRA:10071718", "OMIM:225790", "Orphanet:221126", "SCTID:700242002", "UMLS:C1856972"]}
{"category": ["biolink:Disease"], "description": "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.", "id": "MONDO:0009169", "name": "Endocardial fibroelastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Elastomyofibrosis", "endocardial fibroelastosis"], "xref": ["DOID:12929", "EFO:0007251", "GARD:0006336", "ICD10CM:I42.4", "ICD9:425.3", "MEDGEN:4041", "MESH:D004695", "MedDRA:10014663", "NANDO:2100060", "NANDO:2200235", "NCIT:C98922", "NORD:1090", "OMIM:226000", "Orphanet:2022", "SCTID:65457005", "UMLS:C0014117", "icd11.foundation:1971033419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009170", "name": "Endocardial fibroelastosis and coarctation of abdominal aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endocardial fibroelastosis and coarctation of abdominal aorta"], "xref": ["MEDGEN:341665", "MESH:C565592", "OMIM:226100", "UMLS:C1856971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009171", "name": "Endothelial dystrophy, congenital hereditary, with nail hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endothelial dystrophy, congenital hereditary, with nail hypoplasia"], "xref": ["MEDGEN:341664", "MESH:C565591", "OMIM:226110", "UMLS:C1856970"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.", "id": "MONDO:0009172", "name": "Enterocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enterocolitis", "enterocolitis (disease)"], "xref": ["EFO:1001481", "HP:0004387", "ICD9:558.9", "MEDGEN:4966", "MESH:D004760", "NCIT:C79573", "OMIM:226150", "SCTID:43752006", "UMLS:C0014356"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.", "id": "MONDO:0009173", "name": "Congenital enteropathy due to enteropeptidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital enterokinase deficiency"], "xref": ["DOID:0111667", "GARD:0017038", "ICD9:277.89", "MEDGEN:82802", "MESH:C562649", "NANDO:2200910", "OMIM:226200", "Orphanet:168601", "SCTID:190952002", "UMLS:C0268416"]}
{"category": ["biolink:Disease"], "description": "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.", "id": "MONDO:0009174", "name": "Protein-losing enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["protein-losing enteropathy", "protein-losing enteropathy (disease)"], "xref": ["DOID:10611", "GARD:0015003", "HP:0002243", "ICD9:579.8", "MEDGEN:1622548", "MESH:D011504", "OMIM:226300", "Orphanet:566175", "SCTID:22542007", "UMLS:C4538570", "icd11.foundation:1821383469"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.", "id": "MONDO:0009175", "name": "Eosinophilic fasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Shulman syndrome", "diffuse fasciitis with eosinophilia", "eosinophilic fasciitis", "eosinophilic fasciitis (disease)"], "xref": ["GARD:0006351", "HP:0045029", "ICD9:728.89", "MEDGEN:82673", "MESH:C562487", "MedDRA:10014954", "NCIT:C112116", "OMIM:226350", "Orphanet:3165", "SCTID:24129002", "UMLS:C0264005", "icd11.foundation:1977389237"]}
{"category": ["biolink:Disease"], "description": "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.", "id": "MONDO:0009176", "name": "Epidermodysplasia verruciformis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lewandowsky-Lutz dysplasia", "Lewandowsky-Lutz syndrome", "Lutz-Lewandowsky epidermodysplasia verruciformis", "epidermodysplasia verruciformis"], "xref": ["DOID:13777", "GARD:0006357", "ICD9:078.19", "ICD9:757.8", "MEDGEN:41831", "MESH:D004819", "MedDRA:10052339", "NANDO:2200768", "NCIT:C126877", "Orphanet:302", "SCTID:19138001", "UMLS:C0014522", "icd11.foundation:1191479808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009177", "name": "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000299", "MEDGEN:341663", "MESH:C535492", "OMIM:226440", "Orphanet:231556", "UMLS:C1856969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009178", "name": "Epidermolysis bullosa dystrophica neurotrophica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["epidermolysis bullosa dystrophica Neurotrophica"], "xref": ["GARD:0024651", "ICD9:757.39", "MEDGEN:78666", "MESH:C562637", "OMIM:226500", "SCTID:254176007", "UMLS:C0268368"]}
{"category": ["biolink:Disease"], "description": "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.", "id": "MONDO:0009179", "name": "Recessive dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBD inversa", "RDEB generalisata gravis", "RDEB, Hallopeau-Siemens type", "RDEB-sev gen", "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis", "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type", "epidermolysis bullosa dystrophica, AR", "epidermolysis bullosa dystrophica, autosomal recessive, modifier of"], "xref": ["DOID:0060642", "GARD:0006308", "ICD9:757.39", "MEDGEN:36311", "NANDO:1200238", "NANDO:2201383", "OMIM:226600", "Orphanet:79408", "SCTID:48528004", "UMLS:C0079474"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.", "id": "MONDO:0009180", "name": "Junctional epidermolysis bullosa, non-herlitz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["JEN-nH"], "xref": ["GARD:0024652", "ICD9:757.39", "MEDGEN:82798", "NANDO:1201066", "NANDO:2201379", "OMIM:226650", "Orphanet:89840", "SCTID:33662006", "UMLS:C0268374"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.", "id": "MONDO:0009181", "name": "Epidermolysis bullosa simplex 5b, with muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS-MD", "epidermolysis bullosa simplex 5B, with muscular dystrophy", "epidermolysis bullosa simplex and limb-girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy", "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"], "xref": ["DOID:0090017", "GARD:0002137", "MEDGEN:418981", "MESH:C535955", "NANDO:2201376", "OMIM:226670", "Orphanet:257", "SCTID:723308003", "UMLS:C2931072"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.", "id": "MONDO:0009182", "name": "Junctional epidermolysis bullosa herlitz type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Herlitz-Pearson-type epidermolysis bullosa", "JEB, generalised severe", "JEB, generalized severe", "JEB-H", "JEB-Herlitz type", "epidermolysis bullosa letalis", "junctional epidermolysis bullosa generalisata gravis", "junctional epidermolysis bullosa, Herlitz-Pearson type"], "xref": ["DOID:0060737", "GARD:0002153", "ICD10CM:Q81.1", "MEDGEN:36328", "NANDO:1201065", "NANDO:2200119", "NANDO:2201378", "OMIM:226700", "Orphanet:79404", "SCTID:400140006", "UMLS:C0079683"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.", "id": "MONDO:0009183", "name": "Junctional epidermolysis bullosa with pyloric atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carmi syndrome", "JEB-PA", "epidermolysis bullosa junctionalis with pyloric atresia", "epidermolysis bullosa, junctional, with pyloric stenosis", "junctional epidermolysis bullosa with pyloric atresia"], "xref": ["DOID:0060733", "GARD:0009694", "MEDGEN:1810975", "MESH:C535377", "NANDO:2201380", "OMIM:226730", "Orphanet:79403", "UMLS:C5676875", "icd11.foundation:1877890811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009184", "name": "Epidermolysis bullosa with diaphragmatic hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epidermolysis bullosa with diaphragmatic hernia"], "xref": ["MEDGEN:346473", "MESH:C565588", "OMIM:226735", "UMLS:C1856933"]}
{"category": ["biolink:Disease"], "description": "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.", "id": "MONDO:0009185", "name": "Amelocerebrohypohidrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kohlschutter-Tonz syndrome", "amelocerebrohypohidrotic syndrome", "epilepsy-dementia-amelogenesis imperfecta syndrome"], "xref": ["DOID:0111668", "GARD:0003128", "MEDGEN:98036", "MESH:C537213", "OMIM:226750", "Orphanet:1946", "SCTID:109478007", "UMLS:C0406740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009186", "name": "Epilepsy, photogenic, with spastic diplegia and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epilepsy, photogenic, with spastic diplegia and intellectual disability", "epilepsy, photogenic, with spastic diplegia and mental retardation"], "xref": ["MEDGEN:347333", "MESH:C565587", "OMIM:226800", "UMLS:C1856931"]}
{"category": ["biolink:Disease"], "description": "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.", "id": "MONDO:0009187", "name": "Celiac disease-epilepsy-cerebral calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CEC", "celiac disease, epilepsy, and cerebral calcification syndrome", "coeliac disease, epilepsy, and cerebral calcification syndrome"], "xref": ["GARD:0002166", "MEDGEN:341654", "MESH:C535496", "OMIM:226810", "Orphanet:1459", "UMLS:C1856930"]}
{"category": ["biolink:Disease"], "description": "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.", "id": "MONDO:0009188", "name": "Epilepsy-telangiectasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002168", "MEDGEN:384017", "MESH:C535497", "OMIM:226850", "Orphanet:1951", "UMLS:C1856929"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.", "id": "MONDO:0009189", "name": "Multiple epiphyseal dysplasia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDM4", "MED4", "Polyepiphyseal dysplasia type 4", "Recessive Multiple Epiphyseal Dysplasia", "SLC26A2 multiple epiphyseal dysplasia (disease)", "autosomal recessive multiple epiphyseal dysplasia", "epiphyseal dysplasia, multiple, type 4", "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "rMED"], "xref": ["DOID:0070300", "GARD:0009793", "MEDGEN:376164", "MESH:C535504", "NORD:1881", "OMIM:226900", "Orphanet:93307", "SCTID:715672007", "UMLS:C1847593", "icd11.foundation:1927114777"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009190", "name": "Epiphyseal dysplasia of femoral head, myopia, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epiphyseal dysplasia of femoral head, myopia, and deafness"], "xref": ["MEDGEN:346470", "MESH:C565585", "OMIM:226950", "UMLS:C1856918"]}
{"category": ["biolink:Disease"], "description": "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.", "id": "MONDO:0009191", "name": "Lowry-wood syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LWS", "Lowry Wood syndrome", "Lowry-Wood syndrome", "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy", "epiphyseal dysplasia-microcephaly-nystagmus syndrome"], "xref": ["GARD:0000264", "MEDGEN:162899", "MESH:C537038", "MedDRA:10062600", "OMIM:226960", "Orphanet:1824", "SCTID:721975004", "UMLS:C0796021", "icd11.foundation:1713071905"]}
{"category": ["biolink:Disease"], "description": "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.", "id": "MONDO:0009192", "name": "Wolcott-rallison syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WRS", "Wolcott-Rallison syndrome", "early-onset diabetes mellitus with multiple epiphyseal dysplasia"], "xref": ["DOID:0090060", "GARD:0005589", "MEDGEN:140926", "MESH:C536739", "NCIT:C131007", "OMIM:226980", "Orphanet:1667", "SCTID:254066006", "UMLS:C0432217", "icd11.foundation:2096915129"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009193", "name": "Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epithelial squamous dysplasia, keratinizing desquamative, of urinary tract"], "xref": ["MEDGEN:384010", "MESH:C565584", "OMIM:226985", "UMLS:C1856902"]}
{"category": ["biolink:Disease"], "description": "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.", "id": "MONDO:0009194", "name": "Immunodeficiency 32b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAEBV syndrome", "IMD32B", "IRF8 deficiency, autosomal recessive", "chronic EBV infection syndrome", "chronic Epstein-Barr virus infection syndrome", "immunodeficiency 32B", "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive", "monocyte and dendritic cell deficiency, autosomal recessive"], "xref": ["DOID:0111985", "GARD:0009534", "MEDGEN:1668246", "NANDO:2200808", "OMIM:226990", "OMIM:614894", "Orphanet:2566", "UMLS:C4751209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009195", "name": "Erythema of acral regions", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["erythema of acral regions"], "xref": ["MEDGEN:384009", "OMIM:227000", "UMLS:C1856900"]}
{"category": ["biolink:Disease"], "description": "A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.", "id": "MONDO:0009196", "name": "Ermine phenotype", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["O'Doherty syndrome", "ermine phenotype", "pigmentary disorder with hearing loss"], "xref": ["GARD:0000407", "ICD9:270.2", "MEDGEN:346466", "MESH:C535508", "MESH:C562663", "OMIM:227010", "Orphanet:999", "SCTID:10170007", "UMLS:C1856899", "icd11.foundation:2048725507"]}
{"category": ["biolink:Disease"], "description": "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.", "id": "MONDO:0009197", "name": "Transient erythroblastopenia of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["transient acquired pure red cell aplasia", "transient erythroblastopenia of childhood"], "xref": ["GARD:0007793", "ICD9:284.81", "MEDGEN:68670", "MESH:C536980", "NCIT:C131683", "OMIM:227050", "Orphanet:98871", "SCTID:191255003", "UMLS:C0238478"]}
{"category": ["biolink:Disease"], "description": "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0009198", "name": "Congenital lethal erythroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002192", "MEDGEN:384008", "MESH:C535513", "OMIM:227090", "Orphanet:1954", "SCTID:722391005", "UMLS:C1856898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009199", "name": "Ethanolaminosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ethanolaminosis"], "xref": ["ICD9:270.8", "MEDGEN:120637", "MESH:C562651", "OMIM:227150", "SCTID:64235006", "UMLS:C0268423"]}
{"category": ["biolink:Disease"], "description": "Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.", "id": "MONDO:0009200", "name": "Eyebrow duplication-syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002216", "MEDGEN:347327", "MESH:C536383", "OMIM:227210", "Orphanet:3172", "UMLS:C1856896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009201", "name": "Facial abnormalities, kyphoscoliosis, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["facial abnormalities, kyphoscoliosis, and intellectual disability", "facial abnormalities, kyphoscoliosis, and mental retardation"], "xref": ["MEDGEN:347325", "MESH:C565580", "OMIM:227250", "UMLS:C1856893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009202", "name": "Thakker-donnai syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dysmorphism-multiple structural anomalies syndrome"], "xref": ["GARD:0005158", "MEDGEN:346465", "MESH:C536503", "OMIM:227255", "Orphanet:1780", "UMLS:C1856892"]}
{"category": ["biolink:Disease"], "description": "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.", "id": "MONDO:0009203", "name": "Focal facial dermal dysplasia type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FFDD type III", "FFDD3", "Setleis syndrome", "focal facial dermal dysplasia 3, Setleis type", "focal facial dermal dysplasia type III"], "xref": ["GARD:0000121", "MEDGEN:315643", "OMIM:227260", "Orphanet:1807", "SCTID:403771007", "UMLS:C1744559"]}
{"category": ["biolink:Disease"], "description": "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.", "id": "MONDO:0009204", "name": "Lethal faciocardiomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002229", "MEDGEN:384007", "MESH:C565578", "OMIM:227270", "Orphanet:1972", "SCTID:719400000", "UMLS:C1856891"]}
{"category": ["biolink:Disease"], "description": "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.", "id": "MONDO:0009205", "name": "Faciocardiorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Eastman-Bixler syndrome", "faciocardiorenal syndrome"], "xref": ["GARD:0002230", "MEDGEN:208649", "MESH:C536388", "OMIM:227280", "Orphanet:1973", "SCTID:723333000", "UMLS:C0795936"]}
{"category": ["biolink:Disease"], "description": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.", "id": "MONDO:0009206", "name": "Factor v and factor viii, combined deficiency of, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMAN1 combined deficiency of factor V and factor VIII", "combined deficiency of factor V and factor VIII caused by mutation in LMAN1", "combined factor V and VIII deficiency", "factor 5 and Factor VIII, combined deficiency of, 1", "factor V and factor VIII, combined deficiency of, type 1"], "xref": ["GARD:0018630", "MEDGEN:1637212", "OMIM:227300", "SCTID:84048006", "UMLS:C4551981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009207", "name": "Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor"], "xref": ["GARD:0018631", "MEDGEN:346462", "OMIM:227310", "UMLS:C1856882"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009208", "name": "Faciothoracogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["faciothoracogenital syndrome"], "xref": ["GARD:0002228", "MEDGEN:443995", "MESH:C536387", "OMIM:227320", "UMLS:C2931184"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.", "id": "MONDO:0009209", "name": "Autosomal recessive faciodigitogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aarskog-like syndrome", "Teebi-Naguib-Alawadi syndrome", "facio-digito-genital syndrome, Kuwait type"], "xref": ["GARD:0005124", "MEDGEN:341637", "OMIM:227330", "Orphanet:1974", "UMLS:C1856871"]}
{"category": ["biolink:Disease"], "description": "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.", "id": "MONDO:0009210", "name": "Congenital factor v deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Owren disease", "Parahemophilia", "Proaccelerin deficiency", "congenital factor V deficiency", "hereditary Factor V deficiency", "hereditary factor V deficiency", "labile factor deficiency"], "xref": ["DOID:2216", "GARD:0002237", "MEDGEN:4633", "MedDRA:10048930", "NCIT:C98938", "OMIM:227400", "Orphanet:326", "SCTID:88776002", "UMLS:C0015499"]}
{"category": ["biolink:Disease"], "description": "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.", "id": "MONDO:0009211", "name": "Congenital factor vii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital factor VII deficiency", "congenital proconvertin deficiency", "hypoproconvertinemia"], "xref": ["DOID:2215", "GARD:0002238", "MEDGEN:473015", "MedDRA:10016079", "NCIT:C131631", "OMIM:227500", "Orphanet:327", "UMLS:C0272320"]}
{"category": ["biolink:Disease"], "description": "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.", "id": "MONDO:0009212", "name": "Congenital factor x deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stuart-Prower factor deficiency", "congenital Stuart factor deficiency", "congenital factor X deficiency", "hereditary Factor X deficiency"], "xref": ["DOID:2222", "GARD:0006404", "ICD9:286.3", "MEDGEN:543976", "NCIT:C98940", "OMIM:227600", "Orphanet:328", "SCTID:37350004", "UMLS:C0272327", "icd11.foundation:1886781445"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", "id": "MONDO:0009213", "name": "Fanconi anemia complementation group c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FA3", "FACC", "FANCC", "Fanconi Anemia, complementation group type C", "Fanconi anaemia complementation group type C", "Fanconi anemia complementation group C", "Fanconi anemia complementation group type C"], "xref": ["DOID:0111087", "GARD:0015168", "MEDGEN:483324", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.", "id": "MONDO:0009214", "name": "Fanconi anemia complementation group d2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FA4", "FAD2", "FANCD2", "Fanconi anemia complementation group D2"], "xref": ["DOID:0111083", "GARD:0015169", "MEDGEN:463627", "NCIT:C125706", "OMIM:227646", "UMLS:C3160738"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", "id": "MONDO:0009215", "name": "Fanconi anemia complementation group a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCA", "FANCA Fanconi anaemia", "FANCA Fanconi anemia", "Fanconi Anemia, complementation group type a", "Fanconi anaemia caused by mutation in FANCA", "Fanconi anaemia complementation group type A", "Fanconi anemia caused by mutation in FANCA", "Fanconi anemia complementation group A", "Fanconi anemia complementation group type A"], "xref": ["DOID:0111095", "GARD:0015170", "GTR:AN1051558", "MEDGEN:483333", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521"]}
{"category": ["biolink:Disease"], "description": "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.", "id": "MONDO:0009216", "name": "Glycogen storage disease due to glut2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bickel-Fanconi glycogenosis", "FBS", "Fanconi Bickel syndrome", "Fanconi syndrome with intestinal malabsorption and galactose intolerance", "Fanconi-Bickel disease", "Fanconi-Bickel syndrome", "GSD due to GLUT2 deficiency", "glycogen storage disease due to GLUT2 deficiency", "glycogenosis due to GLUT2 deficiency"], "xref": ["DOID:0070562", "GARD:0002268", "MEDGEN:501176", "OMIM:227810", "Orphanet:2088", "SCTID:61598006", "UMLS:C3495427", "icd11.foundation:426701963"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", "id": "MONDO:0009217", "name": "Fanconi-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Fanconi-like syndrome"], "xref": ["DOID:0090066", "MEDGEN:56237", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"]}
{"category": ["biolink:Disease"], "description": "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.", "id": "MONDO:0009218", "name": "Farber lipogranulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Farber disease", "Farber lipogranulomatosis", "N-LAURYLSPHINGOSINE deacylase deficiency", "acid ceramidase deficiency"], "xref": ["DOID:0050464", "GARD:0006426", "ICD9:272.8", "MEDGEN:78654", "MESH:D055577", "NANDO:1200086", "NANDO:2200565", "NCIT:C84710", "OMIM:228000", "Orphanet:333", "SCTID:79935000", "UMLS:C0268255"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009219", "name": "Fascial dystrophy, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fascial dystrophy, congenital"], "xref": ["GARD:0015171", "ICD9:709.8", "MEDGEN:226997", "MESH:C563219", "OMIM:228020", "SCTID:399948007", "UMLS:C1302740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009220", "name": "Visceral steatosis, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["visceral steatosis, congenital"], "xref": ["GARD:0008514", "ICD9:571.8", "MEDGEN:90962", "MESH:C536351", "OMIM:228100", "SCTID:270881008", "UMLS:C0341447"]}
{"category": ["biolink:Disease"], "description": "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.", "id": "MONDO:0009221", "name": "Femur-fibula-ulna complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FFU complex", "PFFD", "femur-fibula-ulna dysostosis", "femur-fibula-ulna syndrome"], "xref": ["GARD:0002286", "MEDGEN:347305", "MESH:C537918", "MedDRA:10068448", "OMIM:228200", "Orphanet:2019", "UMLS:C1856790", "icd11.foundation:353892894"]}
{"category": ["biolink:Disease"], "description": "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.", "id": "MONDO:0009222", "name": "Gollop-wolfgang complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gollop-Wolfgang complex", "bifid femur-monodactylous ectrodactyly syndrome"], "xref": ["DOID:0061175", "GARD:0002285", "MEDGEN:341622", "MESH:C537917", "OMIM:228250", "Orphanet:1986", "SCTID:716006003", "UMLS:C1856789"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.", "id": "MONDO:0009223", "name": "Hypogonadotropic hypogonadism 23 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["46,XY DSD due to LHB deficiency", "46,XY DSD due to luteinizing hormone subunit beta deficiency", "46,XY disorder of sex development due to LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency", "LHB hypogonadotropic hypogonadism", "Leydig cell hypoplasia due to LHB deficiency", "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency", "Pasqualini syndrome", "fertile eunuch syndrome", "hypogonadotropic hypogonadism caused by mutation in LHB"], "xref": ["DOID:0090091", "GARD:0010127", "ICD9:253.4", "MEDGEN:82881", "MESH:C537919", "OMIM:228300", "Orphanet:325448", "SCTID:8829008", "UMLS:C0271582"]}
{"category": ["biolink:Disease"], "description": "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).", "id": "MONDO:0009224", "name": "Fetal iodine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002304", "MEDGEN:907922", "OMIM:228355", "Orphanet:1910", "SCTID:718228001", "UMLS:C4273860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009225", "name": "Fever, familial lifelong persistent", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fever, familial lifelong persistent"], "xref": ["MEDGEN:346443", "MESH:C565569", "OMIM:228400", "UMLS:C1856788"]}
{"category": ["biolink:Disease"], "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.", "id": "MONDO:0009226", "name": "Fibrochondrogenesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL11A1 fibrochondrogenesis", "fibrochondrogenesis 1", "fibrochondrogenesis caused by mutation in COL11A1", "fibrochondrogenesis type 1"], "xref": ["DOID:0080672", "GARD:0024653", "MEDGEN:479768", "OMIM:228520", "UMLS:C3278138"]}
{"category": ["biolink:Disease"], "description": "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.", "id": "MONDO:0009227", "name": "Myofibromatosis, infantile, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDGFRB myofibromatosis", "myofibromatosis caused by mutation in PDGFRB", "myofibromatosis, infantile, 1", "myofibromatosis, infantile, type 1"], "xref": ["DOID:0070666", "GARD:0024654", "ICD9:756.9", "MEDGEN:1632352", "MESH:C562978", "NCIT:C176943", "OMIM:228550", "SCTID:254146000", "UMLS:C4551572"]}
{"category": ["biolink:Disease"], "description": "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.", "id": "MONDO:0009228", "name": "Gingival fibromatosis-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010528", "MEDGEN:346437", "MESH:C565567", "OMIM:228560", "Orphanet:2025", "UMLS:C1856761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009229", "name": "Hyaline fibromatosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyaline fibromatosis syndrome"], "xref": ["DOID:0111669", "GARD:0022029", "MEDGEN:1805033", "OMIM:228600", "Orphanet:498474", "UMLS:C5574677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009230", "name": "Fibrosclerosis, multifocal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fibrosclerosis, multifocal"], "xref": ["GARD:0005697", "ICD10CM:M35.5", "ICD9:710.8", "MEDGEN:105414", "MESH:C537375", "OMIM:228800", "SCTID:111210001", "UMLS:C0494949"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009231", "name": "Acromesomelic dysplasia 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Du Pan syndrome", "acromesomelic dysplasia 2B", "fibular hypoplasia and complex brachydactyly"], "xref": ["DOID:0050790", "GARD:0009879", "MEDGEN:346432", "MESH:C537931", "OMIM:228900", "Orphanet:2639", "SCTID:715474004", "UMLS:C1856738"]}
{"category": ["biolink:Disease"], "description": "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.", "id": "MONDO:0009232", "name": "Fuhrmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fuhrmann syndrome", "Fuhrmann-Rieger-de Sousa syndrome", "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome"], "xref": ["DOID:0090067", "GARD:0002410", "MEDGEN:346429", "MESH:C538189", "OMIM:228930", "Orphanet:2854", "SCTID:721296004", "UMLS:C1856728"]}
{"category": ["biolink:Disease"], "description": "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.", "id": "MONDO:0009233", "name": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Saito-Kuba-Tsuruta syndrome"], "xref": ["GARD:0000320", "MEDGEN:383972", "MESH:C537226", "OMIM:228940", "Orphanet:2256", "SCTID:716094008", "UMLS:C1856727"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.", "id": "MONDO:0009234", "name": "Congenital high-molecular-weight kininogen deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["high molecular weight kininogen deficiency", "kininogen deficiency"], "xref": ["DOID:0111676", "GARD:0002684", "ICD9:286.9", "MEDGEN:75780", "MESH:C537060", "NANDO:2200685", "NCIT:C98946", "OMIM:228960", "Orphanet:483", "SCTID:27312002", "UMLS:C0272340", "icd11.foundation:453135247"]}
{"category": ["biolink:Disease"], "description": "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.", "id": "MONDO:0009235", "name": "Familial benign flecked retina", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fleck retina, familial benign"], "xref": ["DOID:0111677", "GARD:0018651", "MEDGEN:341605", "MESH:C565564", "OMIM:228980", "Orphanet:363989", "UMLS:C1856718"]}
{"category": ["biolink:Disease"], "description": "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.", "id": "MONDO:0009236", "name": "Kandori fleck retina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016900", "MEDGEN:78764", "MESH:C562701", "OMIM:228990", "Orphanet:99179", "SCTID:765191009", "UMLS:C0271257", "icd11.foundation:697904956"]}
{"category": ["biolink:Disease"], "description": "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.", "id": "MONDO:0009237", "name": "Focal epithelial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["heck disease"], "xref": ["DOID:5362", "EFO:0007275", "ICD9:528.79", "MEDGEN:60066", "MESH:D017573", "NCIT:C97083", "OMIM:229045", "SCTID:6121001", "UMLS:C0206067"]}
{"category": ["biolink:Disease"], "description": "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.", "id": "MONDO:0009238", "name": "Hereditary folate malabsorption", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital folate malabsorption"], "xref": ["DOID:0111678", "GARD:0012983", "MEDGEN:83348", "MESH:C562799", "NANDO:1200810", "NANDO:2200592", "NCIT:C156424", "OMIM:229050", "Orphanet:90045", "SCTID:62578003", "UMLS:C0342705", "icd11.foundation:773545237"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.", "id": "MONDO:0009239", "name": "Hypogonadotropic hypogonadism 24 without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FSHB hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 24 without anosmia", "hypogonadotropic hypogonadism caused by mutation in FSHB", "isolated FSH deficiency"], "xref": ["DOID:0090088", "GARD:0010128", "MEDGEN:1806136", "MESH:C537070", "OMIM:229070", "Orphanet:52901", "SCTID:758664007", "UMLS:C5574957"]}
{"category": ["biolink:Disease"], "description": "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.", "id": "MONDO:0009240", "name": "Formiminoglutamic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FTCD deficiency", "formiminoglutamic aciduria", "formiminotransferase cyclodeaminase deficiency", "glutamate formiminotransferase deficiency"], "xref": ["DOID:0111679", "GARD:0009279", "ICD9:270.8", "MEDGEN:82823", "MESH:C537425", "OMIM:229100", "Orphanet:51208", "SCTID:59761008", "UMLS:C0268609", "icd11.foundation:664824338"]}
{"category": ["biolink:Disease"], "description": "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.", "id": "MONDO:0009241", "name": "Fountain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness-skeletal dysplasia-coarse face with full lips syndrome", "deafness-skeletal dysplasia-lip granuloma syndrome", "fountain syndrome"], "xref": ["GARD:0000064", "MEDGEN:208650", "MESH:C537270", "OMIM:229120", "Orphanet:3219", "SCTID:720957007", "UMLS:C0795944"]}
{"category": ["biolink:Disease"], "description": "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.", "id": "MONDO:0009242", "name": "Brittle cornea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["brittle cornea syndrome", "brittle cornea syndrome type 1", "kyphoscoliosis type"], "xref": ["DOID:14775", "GARD:0001019", "OMIMPS:229200", "Orphanet:90354", "SCTID:719096006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009243", "name": "Fraser-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Fraser-like syndrome"], "xref": ["MEDGEN:346426", "MESH:C565562", "OMIM:229230", "Orphanet:2051", "UMLS:C1856708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009244", "name": "Freesia flowers, inability to smell", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Freesia Flowers, inability to smell"], "xref": ["MEDGEN:383969", "OMIM:229250", "UMLS:C1856707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009246", "name": "Friedreich ataxia and congenital glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Friedreich ataxia and congenital glaucoma"], "xref": ["MEDGEN:344787", "MESH:C538061", "OMIM:229310", "UMLS:C1856688"]}
{"category": ["biolink:Disease"], "description": "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).", "id": "MONDO:0009247", "name": "Frontofacionasal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gollop syndrome", "frontofacionasal dysplasia"], "xref": ["GARD:0002390", "MEDGEN:444125", "MESH:C538063", "NORD:1164", "OMIM:229400", "Orphanet:1791", "SCTID:716022002", "UMLS:C2931720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009248", "name": "Fructose and galactose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fructose and galactose intolerance"], "xref": ["MEDGEN:341598", "MESH:C565558", "OMIM:229500", "UMLS:C1856686"]}
{"category": ["biolink:Disease"], "description": "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.", "id": "MONDO:0009249", "name": "Hereditary fructose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fructosaemia", "Fructose Intolerance, Hereditary", "fructose intolerance", "fructose intolerance, hereditary", "fructose-1,6-bisphosphate aldolase B deficiency", "fructosemia", "hereditary fructose intolerance", "hereditary fructose intolerance syndrome", "hereditary fructose-1-phosphate aldolase deficiency", "hereditary fructosemia"], "xref": ["DOID:9869", "GARD:0006622", "ICD10CM:E74.12", "ICD9:271.2", "MEDGEN:42105", "MedDRA:10019878", "NANDO:2200531", "NCIT:C84720", "NORD:1166", "OMIM:229600", "Orphanet:469", "SCTID:20052008", "UMLS:C0016751", "icd11.foundation:1925240365"]}
{"category": ["biolink:Disease"], "description": "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.", "id": "MONDO:0009251", "name": "Fructose-1,6-bisphosphatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fructose-1,6-bisphosphatase deficiency", "fructose-1,6-diphosphatase deficiency"], "xref": ["DOID:5204", "GARD:0002400", "MEDGEN:42106", "NANDO:2200535", "NCIT:C128119", "OMIM:229700", "Orphanet:348", "SCTID:28183005", "UMLS:C0016756"]}
{"category": ["biolink:Disease"], "description": "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.", "id": "MONDO:0009252", "name": "Essential fructosuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fructokinase deficiency", "fructosuria, essential", "ketohexokinase deficiency"], "xref": ["DOID:0111680", "GARD:0006471", "ICD10CM:E74.11", "MEDGEN:78645", "MESH:C538068", "MedDRA:10015487", "OMIM:229800", "Orphanet:2056", "SCTID:40278002", "UMLS:C0268160", "icd11.foundation:1362211287"]}
{"category": ["biolink:Disease"], "description": "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.", "id": "MONDO:0009253", "name": "Fryns syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fryns syndrome", "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome"], "xref": ["GARD:0003699", "ICD9:759.89", "MEDGEN:65088", "MESH:C538070", "NCIT:C98932", "NORD:1167", "OMIM:229850", "Orphanet:2059", "SCTID:702432006", "UMLS:C0220730", "icd11.foundation:1327847749"]}
{"category": ["biolink:Disease"], "description": "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.", "id": "MONDO:0009254", "name": "Fucosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-L-fucosidase deficiency", "fucosidosis"], "xref": ["DOID:14500", "GARD:0006473", "ICD9:271.8", "MEDGEN:5288", "MESH:D005645", "NANDO:1200130", "NANDO:2200553", "NCIT:C61274", "NORD:1168", "OMIM:230000", "Orphanet:349", "SCTID:64716005", "UMLS:C0016788", "icd11.foundation:1470242510"]}
{"category": ["biolink:Disease"], "description": "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.", "id": "MONDO:0009255", "name": "Galactokinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GALK deficiency", "GALK-D", "galactokinase deficiency", "galactokinase deficiency galactosemia", "galactokinase deficiency with cataracts", "galactosemia type 2"], "xref": ["DOID:14695", "GARD:0002422", "MEDGEN:120614", "NANDO:2200533", "NCIT:C114767", "OMIM:230200", "Orphanet:79237", "SCTID:124302001", "UMLS:C0268155", "icd11.foundation:1173858031"]}
{"category": ["biolink:Disease"], "description": "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.", "id": "MONDO:0009256", "name": "Galactorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["galactorrhea", "galactorrhea (disease)"], "xref": ["HP:0100829", "ICD9:611.6", "MEDGEN:777088", "MESH:D005687", "NCIT:C113343", "SCTID:78622004", "UMLS:C3665358"]}
{"category": ["biolink:Disease"], "description": "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.", "id": "MONDO:0009257", "name": "Galactose epimerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GALE deficiency", "GALE-D", "UDP-galactose-4-epimerase deficiency", "epimerase deficiency galactosemia", "galactose epimerase deficiency", "galactosemia type 3", "uridine diphosphate galactose-4-epimerase deficiency"], "xref": ["DOID:0111458", "GARD:0005392", "MEDGEN:199598", "NANDO:2200534", "OMIM:230350", "Orphanet:79238", "SCTID:8849004", "UMLS:C0751161"]}
{"category": ["biolink:Disease"], "description": "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.", "id": "MONDO:0009258", "name": "Classic galactosemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GALT deficiency", "classic galactosemia", "galactose-1-phosphate uridyltransferase deficiency", "galactosemia type 1"], "xref": ["DOID:0111459", "GARD:0013639", "MEDGEN:82777", "NANDO:1200851", "NANDO:2200532", "OMIM:230400", "Orphanet:79239", "SCTID:10899004", "UMLS:C0268151", "icd11.foundation:2011000259"]}
{"category": ["biolink:Disease"], "description": "A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.", "id": "MONDO:0009259", "name": "Gamma-glutamylcysteine synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anemia, congenital, nonspherocytic hemolytic, 7", "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to", "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to", "glutamate-cysteine ligase deficiency", "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency", "inborn error of glutamate-cysteine ligase activity", "inborn glutamate-cysteine ligase activity disorder", "rare inborn error of glutamate-cysteine ligase activity"], "xref": ["DOID:0111681", "GARD:0016631", "ICD9:270.8", "MEDGEN:347272", "MESH:C565557", "OMIM:230450", "Orphanet:33574", "SCTID:36799008", "UMLS:C1856603"]}
{"category": ["biolink:Disease"], "description": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.", "id": "MONDO:0009260", "name": "Gm1 gangliosidosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Norman-Landing disease", "infantile GM1 gangliosidosis"], "xref": ["DOID:0080502", "GARD:0006479", "MEDGEN:75665", "NANDO:1200067", "NANDO:2201196", "OMIM:230500", "Orphanet:79255", "SCTID:238026007", "UMLS:C0268271", "icd11.foundation:466200180"]}
{"category": ["biolink:Disease"], "description": "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.", "id": "MONDO:0009261", "name": "Gm1 gangliosidosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["juvenile GM1 gangliosidosis", "late-infantile GM1 gangliosidosis"], "xref": ["DOID:0080501", "GARD:0010126", "MEDGEN:120625", "NANDO:1200068", "NANDO:2201197", "OMIM:230600", "Orphanet:79256", "SCTID:18756002", "UMLS:C0268272", "icd11.foundation:1132250614"]}
{"category": ["biolink:Disease"], "description": "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.", "id": "MONDO:0009262", "name": "Gm1 gangliosidosis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["adult-onset GM1 gangliosidosis"], "xref": ["DOID:0080489", "GARD:0002431", "MEDGEN:78655", "NANDO:1200069", "NANDO:2201198", "OMIM:230650", "Orphanet:79257", "SCTID:238027003", "UMLS:C0268273", "icd11.foundation:1331496842"]}
{"category": ["biolink:Disease"], "description": "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations", "id": "MONDO:0009263", "name": "Gapo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome", "gapo syndrome"], "xref": ["DOID:0112249", "GARD:0000400", "MEDGEN:98034", "MESH:C535642", "OMIM:230740", "Orphanet:2067", "SCTID:721843003", "UMLS:C0406723", "icd11.foundation:909165198"]}
{"category": ["biolink:Disease"], "description": "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.", "id": "MONDO:0009264", "name": "Gastroschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["gastroschisis", "laparoschisis"], "xref": ["DOID:11044", "EFO:1000949", "GARD:0008661", "ICD10CM:Q79.3", "ICD9:756.73", "MEDGEN:82721", "MESH:D020139", "MedDRA:10018046", "NCIT:C84725", "NORD:1176", "OMIM:230750", "Orphanet:2368", "SCTID:72951007", "UMLS:C0265706", "icd11.foundation:551758329"]}
{"category": ["biolink:Disease"], "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.", "id": "MONDO:0009265", "name": "Gaucher disease type i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease type I", "Gaucher disease, noncerebral juvenile", "Gaucher's disease type I", "non-cerebral juvenile Gaucher disease"], "xref": ["DOID:0110957", "GARD:0002441", "MEDGEN:409531", "NANDO:1200057", "NANDO:2201210", "OMIM:230800", "Orphanet:77259", "SCTID:62201009", "UMLS:C1961835"]}
{"category": ["biolink:Disease"], "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.", "id": "MONDO:0009266", "name": "Gaucher disease type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease type II", "Gaucher disease, acute neuronopathic type", "Gaucher's disease type II", "acute neuronopathic Gaucher disease", "infantile cerebral Gaucher disease"], "xref": ["DOID:0110958", "GARD:0002442", "MEDGEN:78652", "NANDO:1200058", "NANDO:2201211", "OMIM:230900", "Orphanet:77260", "SCTID:12246008", "UMLS:C0268250"]}
{"category": ["biolink:Disease"], "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.", "id": "MONDO:0009267", "name": "Gaucher disease type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease type III", "Gaucher disease, Subacute neuronopathic type", "Gaucher disease, chronic neuronopathic type", "Gaucher disease, juvenile and adult, cerebral", "Gaucher disease, subacute neuronopathic type", "Gaucher's disease type III", "cerebral juvenile and adult form of Gaucher disease", "chronic neuronopathic Gaucher disease"], "xref": ["DOID:0110959", "GARD:0002443", "MEDGEN:78653", "NANDO:1200059", "NANDO:2201212", "OMIM:231000", "Orphanet:77261", "SCTID:5963005", "UMLS:C0268251"]}
{"category": ["biolink:Disease"], "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.", "id": "MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease type 3C", "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "Gaucher-like disease", "cardiovascular Gaucher disease"], "xref": ["DOID:0112250", "GARD:0012504", "MEDGEN:341563", "MESH:C565553", "OMIM:231005", "Orphanet:2072", "SCTID:1156813002", "UMLS:C1856476"]}
{"category": ["biolink:Disease"], "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.", "id": "MONDO:0009269", "name": "Geleophysic dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADAMTSL2 geleophysic dysplasia", "Geleophysic dysplasia type 1", "geleophysic dysplasia 1", "geleophysic dysplasia caused by mutation in ADAMTSL2"], "xref": ["DOID:0111725", "GARD:0015172", "MEDGEN:479777", "OMIM:231050", "UMLS:C3278147"]}
{"category": ["biolink:Disease"], "description": "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.", "id": "MONDO:0009270", "name": "Genito-palato-cardiac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gardner-Silengo-Wachtel syndrome"], "xref": ["GARD:0002460", "MEDGEN:341558", "MESH:C537683", "OMIM:231060", "Orphanet:2075", "UMLS:C1856466", "icd11.foundation:2011995320"]}
{"category": ["biolink:Disease"], "description": "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.", "id": "MONDO:0009271", "name": "Geroderma osteodysplastica", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["geroderma osteodysplastica"], "xref": ["DOID:0111266", "GARD:0000413", "ICD9:759.89", "MEDGEN:98149", "MESH:C537799", "OMIM:231070", "Orphanet:2078", "SCTID:254116003", "UMLS:C0432255"]}
{"category": ["biolink:Disease"], "description": "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0009272", "name": "German syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["German syndrome"], "xref": ["MEDGEN:854357", "MESH:C562543", "OMIM:231080", "Orphanet:2077", "SCTID:733037000", "UMLS:C3887495"]}
{"category": ["biolink:Disease"], "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.", "id": "MONDO:0009273", "name": "Hydatidiform mole, recurrent, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NLRP7 complete hydatidiform mole", "complete hydatidiform mole caused by mutation in NLRP7", "hydatidiform Mole, recurrent, type 1", "hydatidiform mole, recurrent, 1"], "xref": ["GARD:0018365", "MEDGEN:483038", "OMIM:231090", "UMLS:C3463897"]}
{"category": ["biolink:Disease"], "description": "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.", "id": "MONDO:0009274", "name": "Ghosal hematodiaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ghosal syndrome", "diaphyseal dysplasia-anemia syndrome", "ghosal hematodiaphyseal dysplasia"], "xref": ["DOID:0112251", "GARD:0010297", "ICD9:756.59", "MEDGEN:344739", "MESH:C565551", "OMIM:231095", "Orphanet:1802", "SCTID:389214003", "UMLS:C1856465"]}
{"category": ["biolink:Disease"], "description": "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4", "id": "MONDO:0009275", "name": "Neonatal hemochromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0007172", "MEDGEN:82768", "MESH:C536394", "NCIT:C129980", "NORD:1494", "OMIM:231100", "Orphanet:446", "UMLS:C0268059"]}
{"category": ["biolink:Disease"], "description": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.", "id": "MONDO:0009276", "name": "Bernard-soulier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bernard-Soulier syndrome", "Bernard-Soulier syndrome, type A1 (recessive)", "Hemorrhagiparous thrombocytic dystrophy", "giant platelet disorder, isolated", "giant platelet syndrome"], "xref": ["DOID:2217", "GARD:0002470", "MEDGEN:2212", "MESH:D001606", "MedDRA:10057473", "NANDO:2200656", "NCIT:C84595", "NORD:851", "OMIM:231200", "Orphanet:274", "SCTID:234478007", "UMLS:C0005129", "icd11.foundation:507309898"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.", "id": "MONDO:0009277", "name": "Glaucoma 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Primary Congenital glaucoma 3A", "glaucoma 3, primary congenital, type a", "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset"], "xref": ["DOID:11211", "GARD:0018224", "ICD9:743.21", "MEDGEN:383912", "NCIT:C148260", "OMIM:231300", "Orphanet:98976", "UMLS:C1856439"]}
{"category": ["biolink:Disease"], "description": "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.", "id": "MONDO:0009279", "name": "Triple-a syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2A syndrome", "3A syndrome", "4A syndrome", "AAA syndrome", "Allgrove syndrome", "Double A syndrome", "achalasia-addisonianism-alacrima syndrome", "adrenal insufficiency-achalasia-alacrima syndrome", "quaternary A syndrome", "triple-a syndrome"], "xref": ["DOID:0050602", "GARD:0000457", "ICD9:255.41", "MEDGEN:82889", "MESH:C536008", "NANDO:1200410", "NCIT:C131005", "OMIM:231550", "Orphanet:869", "SCTID:45414006", "UMLS:C0271742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009280", "name": "Monosodium glutamate sensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["monosodium glutamate sensitivity"], "xref": ["ICD9:989.89", "MEDGEN:891", "MESH:C562377", "OMIM:231630", "SCTID:56344009", "UMLS:C0008127"]}
{"category": ["biolink:Disease"], "description": "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.", "id": "MONDO:0009281", "name": "Glutaryl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GA1", "GCDHD", "glutaric acidemia type 1", "glutaric aciduria type 1", "glutaric aciduria, type 1", "glutaricaciduria, type I", "glutaryl-CoA dehydrogenase deficiency", "glutaryl-coenzyme A dehydrogenase deficiency"], "xref": ["DOID:0111254", "GARD:0006522", "MEDGEN:124337", "MESH:C536833", "NANDO:1200800", "NANDO:2200501", "NCIT:C99101", "OMIM:231670", "Orphanet:25", "SCTID:76175005", "UMLS:C0268595"]}
{"category": ["biolink:Disease"], "description": "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.", "id": "MONDO:0009282", "name": "Multiple acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Glutaric Aciduria Type II", "MAD deficiency", "MADD", "electron transfer flavoprotein deficiency", "glutaric acidemia type 2", "glutaric acidemia type II", "glutaric aciduria type 2", "glutaric aciduria, type 2", "multiple acyl Coenzyme A dehydrogenase deficiency", "multiple acyl-CoA dehydrogenase deficiency"], "xref": ["DOID:0060358", "GARD:0006523", "ICD10CM:E71.313", "MEDGEN:75696", "NANDO:1200801", "NANDO:2200502", "NCIT:C84907", "NORD:1192", "OMIM:231680", "Orphanet:26791", "UMLS:C0268596", "icd11.foundation:977130875"]}
{"category": ["biolink:Disease"], "description": "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.", "id": "MONDO:0009283", "name": "Glutaric acidemia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SUGCT glutaric aciduria (disease)", "glutaric acidemia type 3", "glutaric aciduria (disease) caused by mutation in SUGCT", "glutaric aciduria type 3", "glutaryl-CoA oxidase deficiency"], "xref": ["DOID:0112246", "GARD:0012469", "ICD9:270.2", "MEDGEN:87464", "MESH:C562818", "OMIM:231690", "Orphanet:35706", "SCTID:238070003", "UMLS:C0342873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009284", "name": "Glutathione synthetase deficiency without 5-oxoprolinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CNSHA6", "GSSDE", "anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient", "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to", "hemolytic anaemia due to glutathione synthetase deficiency", "hemolytic anemia due to glutathione synthetase deficiency"], "xref": ["DOID:0112252", "GARD:0017331", "MEDGEN:343541", "MESH:C565545", "OMIM:231900", "Orphanet:289849", "UMLS:C1856399", "icd11.foundation:178842925"]}
{"category": ["biolink:Disease"], "description": "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.", "id": "MONDO:0009285", "name": "Gamma-glutamyl transpeptidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["glutathioninuria", "glutathionuria", "inborn error of glutathione hydrolase activity", "inborn glutathione hydrolase activity disorder", "rare inborn error of glutathione hydrolase activity"], "xref": ["DOID:0111257", "GARD:0010099", "ICD9:270.8", "MEDGEN:82813", "MESH:C536836", "OMIM:231950", "Orphanet:33573", "SCTID:78586005", "UMLS:C0268524", "icd11.foundation:2074850874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009286", "name": "Gluteal muscles, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gluteal muscles, absence of"], "xref": ["MEDGEN:383902", "MESH:C535561", "OMIM:231970", "UMLS:C1856398"]}
{"category": ["biolink:Disease"], "description": "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.", "id": "MONDO:0009287", "name": "Glycogen storage disease due to glucose-6-phosphatase deficiency type ia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["G6P deficiency type 1a", "G6PC glycogen storage disease", "GSD due to G6P deficiency type 1a", "GSD due to G6P deficiency type Ia", "GSD type 1a", "GSDIa", "glycogen storage disease caused by mutation in G6PC", "glycogen storage disease due to G6P deficiency type Ia", "glycogen storage disease type 1a", "glycogen storage disease type Ia", "glycogenosis due to glucose-6-phosphatase deficiency type 1a", "glycogenosis due to glucose-6-phosphatase deficiency type Ia", "glycogenosis type Ia"], "xref": ["DOID:2749", "GARD:0007864", "MEDGEN:415885", "MESH:C538655", "NANDO:2201153", "OMIM:232200", "Orphanet:79258", "SCTID:444707001", "UMLS:C2919796"]}
{"category": ["biolink:Disease"], "description": "A type of glycogenosis due to G6P deficiency.", "id": "MONDO:0009288", "name": "Glycogen storage disease ib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["G6P deficiency type IB", "G6P translocase deficiency", "G6PT deficiency", "GSD Ib", "GSD due to G6P deficiency type IB", "GSD due to G6PT deficiency", "GSD type 1 non a", "GSD type 1b", "GSD type IB", "GSD1B", "GSDIb", "glucose-6-phosphate transport defect", "glycogen storage disease Ib", "glycogen storage disease Ic", "glycogen storage disease due to G6P deficiency type IB", "glycogen storage disease type 1b", "glycogen storage disease type I non-a", "glycogen storage disease type IB", "glycogen storage disease type Ic", "glycogenosis due to glucose-6-phosphatase deficiency type 1B", "glycogenosis due to glucose-6-phosphatase transport defect type IB", "glycogenosis type 1b", "glycogenosis type IB"], "xref": ["DOID:0081330", "DOID:0081331", "GARD:0002515", "MEDGEN:78644", "MESH:C562594", "NANDO:1200841", "NANDO:2200754", "NANDO:2201154", "NCIT:C122661", "OMIM:232220", "OMIM:232240", "Orphanet:79259", "SCTID:237965005", "SCTID:30102006", "UMLS:C0268146"]}
{"category": ["biolink:Disease"], "description": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.", "id": "MONDO:0009290", "name": "Glycogen storage disease ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-1,4-glucosidase acid deficiency", "GAA glycogen storage disease", "GSD due to acid maltase deficiency", "GSD type 2", "GSD type II", "Pompe Disease", "Pompe disease", "acid maltase deficiency", "generalised glycogenosis", "glycogen storage disease II", "glycogen storage disease caused by mutation in GAA", "glycogen storage disease type 2", "glycogen storage disease type II", "glycogenosis due to acid maltase deficiency", "glycogenosis type 2", "glycogenosis type II"], "xref": ["DOID:2752", "GARD:0005714", "ICD10CM:E74.02", "MEDGEN:5340", "MedDRA:10053185", "NANDO:1200138", "NANDO:1200825", "NANDO:2200569", "NCIT:C84734", "NORD:1595", "Orphanet:365", "SCTID:274864009", "UMLS:C0017921", "icd11.foundation:1427054474"]}
{"category": ["biolink:Disease"], "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.", "id": "MONDO:0009291", "name": "Glycogen storage disease iii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AGL glycogen storage disease", "Cori disease", "Cori-Forbes disease", "Forbes disease", "GDE deficiency", "GSD due to glycogen debranching enzyme deficiency", "GSD type 3", "GSDIII", "amylo-1,6-glucosidase deficiency", "glycogen storage disease III", "glycogen storage disease caused by mutation in AGL", "glycogen storage disease type 3", "glycogen storage disease type III", "glycogenosis due to glycogen debranching enzyme deficiency", "glycogenosis type 3", "glycogenosis type III", "limit dextrinosis"], "xref": ["DOID:2748", "GARD:0009442", "ICD10CM:E74.03", "MEDGEN:6641", "MESH:D006010", "MedDRA:10053250", "NANDO:1200826", "NANDO:1200844", "NANDO:1201019", "NANDO:2200539", "NCIT:C84736", "OMIM:232400", "Orphanet:366", "SCTID:66937008", "UMLS:C0017922"]}
{"category": ["biolink:Disease"], "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.", "id": "MONDO:0009292", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Andersen Disease (GSD IV)", "Andersen disease", "Andersen's disease", "GBE1 glycogen storage disease", "GSD due to glycogen branching enzyme deficiency", "GSD type 4", "GSD type IV", "amylopectinosis", "glycogen storage disease caused by mutation in GBE1", "glycogen storage disease due to glycogen branching enzyme deficiency", "glycogen storage disease type 4", "glycogen storage disease type IV", "glycogenosis due to glycogen branching enzyme deficiency", "glycogenosis type 4", "glycogenosis type IV"], "xref": ["DOID:2750", "GARD:0002520", "ICD9:277.6", "MEDGEN:6642", "MedDRA:10053249", "NANDO:1200827", "NANDO:1200850", "NANDO:2200540", "NCIT:C84737", "NORD:770", "OMIM:232500", "Orphanet:367", "SCTID:124267007", "UMLS:C0017923"]}
{"category": ["biolink:Disease"], "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.", "id": "MONDO:0009293", "name": "Glycogen storage disease v", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to muscle glycogen phosphorylase deficiency", "GSD type 5", "GSD type V", "McArdle disease", "Mcardle disease", "PYGM glycogen storage disease", "glycogen storage disease V", "glycogen storage disease caused by mutation in PYGM", "glycogen storage disease type 5", "glycogen storage disease type V", "glycogenosis due to muscle glycogen phosphorylase deficiency", "glycogenosis type 5", "glycogenosis type V", "myophosphorylase deficiency"], "xref": ["DOID:2746", "GARD:0006528", "ICD10CM:E74.04", "MEDGEN:5341", "MESH:D006012", "MedDRA:10018462", "NANDO:1200828", "NANDO:2200541", "NCIT:C84738", "OMIM:232600", "Orphanet:368", "SCTID:55912009", "UMLS:C0017924"]}
{"category": ["biolink:Disease"], "description": "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.", "id": "MONDO:0009294", "name": "Glycogen storage disease vi", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to liver glycogen phosphorylase deficiency", "GSD type 6", "GSD type VI", "Glycogen Storage Disease Type VI", "PYGL glycogen storage disease", "glycogen storage disease VI", "glycogen storage disease caused by mutation in PYGL", "glycogen storage disease type 6", "glycogen storage disease type VI", "glycogenosis due to liver glycogen phosphorylase deficiency", "glycogenosis type 6", "glycogenosis type VI", "hepatic glycogen phosphorylase deficiency", "hepatic phosphorylase deficiency", "hers disease", "liver glycogen phosphorylase deficiency"], "xref": ["DOID:2754", "GARD:0006529", "MEDGEN:6643", "MESH:D006013", "MedDRA:10053240", "NANDO:1200846", "NANDO:2200542", "NCIT:C126875", "NORD:1241", "OMIM:232700", "Orphanet:369", "SCTID:29291001", "UMLS:C0017925"]}
{"category": ["biolink:Disease"], "description": "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.", "id": "MONDO:0009295", "name": "Glycogen storage disease vii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to muscle phosphofructokinase deficiency", "GSD type 7", "GSD type VII", "GSDVII", "Glycogen Storage Disease Type 7", "PFKM glycogen storage disease", "Tarui disease", "glycogen storage disease VII", "glycogen storage disease caused by mutation in PFKM", "glycogen storage disease type 7", "glycogen storage disease type VII", "glycogenosis due to muscle phosphofructokinase deficiency", "glycogenosis type 7", "glycogenosis type VII", "phosphofructokinase deficiency"], "xref": ["DOID:11721", "GARD:0005686", "MEDGEN:5342", "MESH:D006014", "MedDRA:10053241", "NANDO:1200823", "NANDO:1200829", "NANDO:2200543", "NCIT:C118437", "NORD:1196", "OMIM:232800", "Orphanet:371", "SCTID:89597008", "UMLS:C0017926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009296", "name": "Glycoprotein storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glycoprotein storage disease", "glycoprotein storage disorder"], "xref": ["GARD:0024655", "MEDGEN:343516", "MESH:C565538", "OMIM:232900", "SCTID:7810004", "UMLS:C1856275"]}
{"category": ["biolink:Disease"], "description": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).", "id": "MONDO:0009297", "name": "Familial renal glucosuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Renal Glycosuria", "SGLT2 deficiency", "familial renal glucosuria"], "xref": ["DOID:0070613", "DOID:9432", "GARD:0007548", "ICD9:271.4", "MEDGEN:757652", "MESH:D006030", "MedDRA:10038457", "NORD:1658", "OMIM:233100", "Orphanet:69076", "SCTID:267430007", "UMLS:C3245525", "icd11.foundation:381783069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009298", "name": "Gombo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GOMBO syndrome"], "xref": ["MEDGEN:343515", "MESH:C537284", "OMIM:233270", "UMLS:C1856274"]}
{"category": ["biolink:Disease"], "description": "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.", "id": "MONDO:0009299", "name": "46 xx gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XX complete gonadal dysgenesis", "46,XX gonadal dysgenesis", "46,XX ovarian dysgenesis", "46,XX pure gonadal dysgenesis", "FSH-RO", "XX female gonadal dysgenesis", "XX-GD", "follicular stimulating hormone-resistant ovaries", "hypergonadotropic ovarian dysgenesis"], "xref": ["DOID:14450", "GARD:0005671", "MEDGEN:146899", "MESH:D023961", "NANDO:2200384", "NCIT:C120197", "OMIMPS:233300", "Orphanet:243", "SCTID:95198001", "UMLS:C0685837", "icd11.foundation:1742528605"]}
{"category": ["biolink:Disease"], "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.", "id": "MONDO:0009300", "name": "Perrault syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HSD17B4 Perrault syndrome", "Perrault syndrome 1", "Perrault syndrome caused by mutation in HSD17B4", "Perrault syndrome type 1"], "xref": ["GARD:0024656", "MEDGEN:1640257", "OMIM:233400", "Orphanet:642945", "UMLS:C4551721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009301", "name": "46,xy sex reversal 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 7", "46,XY sex reversal 7", "46XY sex reversal 7"], "xref": ["DOID:0111774", "GARD:0015174", "MEDGEN:383876", "MESH:C565537", "OMIM:233420", "UMLS:C1856273"]}
{"category": ["biolink:Disease"], "description": "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.", "id": "MONDO:0009302", "name": "Xy type gonadal dysgenesis-associated anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002541", "MEDGEN:344696", "MESH:C565536", "OMIM:233430", "Orphanet:1770", "UMLS:C1856272"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.", "id": "MONDO:0009303", "name": "Anti-glomerular basement membrane disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goodpasture Syndrome", "Goodpasture syndrome", "anti-GBM syndrome", "anti-glomerular basement membrane disease"], "xref": ["DOID:9808", "EFO:0007290", "GARD:0002551", "ICD9:446.21", "MEDGEN:140788", "MESH:D019867", "MedDRA:10018620", "NANDO:1200717", "NANDO:1200718", "NANDO:2200125", "NCIT:C84566", "NORD:1198", "OMIM:233450", "Orphanet:375", "SCTID:236432001", "UMLS:C0403529", "icd11.foundation:591736785"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009305", "name": "Granulocytopenia with immunoglobulin abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["granulocytopenia with immunoglobulin abnormality", "immunodeficiency 59 and hypoglycemia"], "xref": ["DOID:0111974", "MEDGEN:383874", "MESH:C565535", "OMIM:233600", "UMLS:C1856263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009306", "name": "Combined immunodeficiency with skin granulomas", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to RAG 1/2 deficiency", "combined immunodeficiency due to RAG 1/2 deficiency"], "xref": ["DOID:0112253", "GARD:0013587", "MEDGEN:435945", "MESH:C567115", "OMIM:233650", "Orphanet:157949", "UMLS:C2673536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009307", "name": "Granulomatous disease with defect in neutrophil chemotaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["granulomatous disease with defect in neutrophil chemotaxis"], "xref": ["GARD:0024657", "MEDGEN:383873", "MESH:C565534", "OMIM:233670", "UMLS:C1856261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009308", "name": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chronic granulomatous disease 4, autosomal recessive", "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"], "xref": ["DOID:0070193", "GARD:0015175", "MEDGEN:383872", "MESH:C565533", "NANDO:2201280", "OMIM:233690", "UMLS:C1856255"]}
{"category": ["biolink:Disease"], "description": "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.", "id": "MONDO:0009309", "name": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NCF1 chronic granulomatous disease", "chronic granulomatous disease 1, autosomal recessive", "chronic granulomatous disease caused by mutation in NCF1", "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1"], "xref": ["DOID:0070192", "GARD:0015176", "MEDGEN:341102", "MESH:C565532", "NANDO:2201281", "OMIM:233700", "UMLS:C1856251"]}
{"category": ["biolink:Disease"], "description": "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.", "id": "MONDO:0009310", "name": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NCF2 chronic granulomatous disease", "chronic granulomatous disease 2, autosomal recessive", "chronic granulomatous disease caused by mutation in NCF2", "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"], "xref": ["DOID:0070191", "GARD:0015177", "MEDGEN:383869", "MESH:C565531", "NANDO:2201282", "OMIM:233710", "UMLS:C1856245"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009311", "name": "Grouped pigmentation of the retina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["grouped pigmentation of the retina"], "xref": ["MEDGEN:341100", "MESH:C565530", "OMIM:233800", "UMLS:C1856244"]}
{"category": ["biolink:Disease"], "description": "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).", "id": "MONDO:0009312", "name": "Lipodystrophy due to peptidic growth factors deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hoepffner-Dreyer-Reimers syndrome", "Werner-like syndrome due to combined growth factor deficiency", "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency"], "xref": ["GARD:0012604", "MEDGEN:419375", "MESH:C565529", "OMIM:233805", "Orphanet:1979", "SCTID:724176001", "UMLS:C2931279", "icd11.foundation:1235390174"]}
{"category": ["biolink:Disease"], "description": "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.", "id": "MONDO:0009313", "name": "Grubben-de cock-borghgraef syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["developmental delay-hypotonia-extremities hypertrophy syndrome"], "xref": ["GARD:0002576", "MEDGEN:419108", "MESH:C537621", "OMIM:233810", "Orphanet:2101", "UMLS:C2931551"]}
{"category": ["biolink:Disease"], "description": "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.", "id": "MONDO:0009315", "name": "Congenital factor xii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Factor XII Deficiency", "Hageman Factor deficiency", "congenital Hageman factor deficiency", "congenital factor XII deficiency"], "xref": ["DOID:2231", "GARD:0006558", "ICD9:286.3", "MEDGEN:8772", "MESH:D005175", "NANDO:2200680", "NCIT:C131740", "NORD:1119", "OMIM:234000", "Orphanet:330", "SCTID:46981006", "UMLS:C0015526"]}
{"category": ["biolink:Disease"], "description": "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.", "id": "MONDO:0009318", "name": "Hallermann-streiff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FranC'ois dyscephalic syndrome", "Francois dyscephalic syndrome", "François dyscephalic syndrome", "Hallermann syndrome", "Hallermann's syndrome", "Hallermann-Streiff syndrome", "oculomandibulofacial syndrome"], "xref": ["DOID:4534", "GARD:0000288", "MEDGEN:5414", "MESH:D006210", "NANDO:2200973", "NCIT:C84746", "NORD:1888", "OMIM:234100", "Orphanet:2108", "SCTID:7903009", "UMLS:C0018522"]}
{"category": ["biolink:Disease"], "description": "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.", "id": "MONDO:0009319", "name": "Pantothenate kinase-associated neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hallervorden-Spatz disease", "Hallervorden-Spatz syndrome", "NBIA1", "PKAN", "neurodegeneration with brain iron accumulation 1", "neurodegeneration with brain iron accumulation type 1", "pantothenate kinase-associated neurodegeneration", "pigmentary pallidal degeneration"], "xref": ["DOID:3981", "GARD:0006564", "ICD10CM:G23.0", "ICD9:333.0", "MEDGEN:6708", "MESH:D006211", "NANDO:1200534", "NANDO:2200886", "NCIT:C84988", "NORD:1550", "OMIM:234200", "Orphanet:157850", "SCTID:2992000", "UMLS:C0018523"]}
{"category": ["biolink:Disease"], "description": "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.", "id": "MONDO:0009320", "name": "Hall-riggs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002586", "MEDGEN:341089", "MESH:C535623", "OMIM:234250", "Orphanet:2107", "SCTID:721008000", "UMLS:C1856198"]}
{"category": ["biolink:Disease"], "description": "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.", "id": "MONDO:0009321", "name": "Hallux varus-preaxial polysyndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kleiner-Holmes syndrome"], "xref": ["GARD:0003118", "MEDGEN:341088", "MESH:C536885", "OMIM:234280", "Orphanet:2110", "UMLS:C1856197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009323", "name": "Halothane hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Halothane hepatitis"], "xref": ["MEDGEN:66842", "MESH:C562477", "OMIM:234350", "SCTID:235873001", "UMLS:C0241913"]}
{"category": ["biolink:Disease"], "description": "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).", "id": "MONDO:0009324", "name": "Hartnup disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hartnup disease", "Hartnup disorder", "aminoaciduria, Hartnup type"], "xref": ["DOID:1060", "GARD:0006569", "MEDGEN:6723", "MESH:D006250", "MedDRA:10019165", "NANDO:2200487", "NCIT:C84748", "NORD:1217", "OMIM:234500", "Orphanet:2116", "SCTID:80902009", "UMLS:C0018609"]}
{"category": ["biolink:Disease"], "description": "Heart block that occurs on or before 28 days of life.", "id": "MONDO:0009326", "name": "Congenital heart block", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital atrioventricular block"], "xref": ["DOID:990", "GARD:0006164", "ICD10CM:Q24.6", "ICD9:746.86", "MEDGEN:57432", "MESH:C535758", "MedDRA:10019263", "NANDO:2200214", "NORD:1218", "OMIM:234700", "Orphanet:60041", "SCTID:46619002", "UMLS:C0149530", "icd11.foundation:1096954866"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009328", "name": "Hemangiomatosis, cutaneous, with associated features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangiomatosis, cutaneous, with associated features"], "xref": ["MEDGEN:67397", "MESH:C562438", "OMIM:234800", "UMLS:C0220738"]}
{"category": ["biolink:Disease"], "description": "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.", "id": "MONDO:0009329", "name": "Pulmonary venoocclusive disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081269", "GARD:0015027", "ICD9:416.8", "MEDGEN:90956", "MESH:C535861", "OMIM:234810", "Orphanet:199241", "SCTID:233949008", "UMLS:C0340848"]}
{"category": ["biolink:Disease"], "description": "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.", "id": "MONDO:0009330", "name": "Hemangiopericytoma, malignant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hemangiopericytoma, malignant", "malignant hemangiopericytoma"], "xref": ["GARD:0002627", "ICDO:9150/3", "MEDGEN:90803", "MESH:C562740", "NCIT:C4301", "OMIM:234820", "UMLS:C0334542"]}
{"category": ["biolink:Disease"], "description": "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.", "id": "MONDO:0009331", "name": "Isolated hemihyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hemicorporal hypertrophy", "hemi 3 syndrome", "hemihypertrophy", "isolated hemihypertrophy"], "xref": ["GARD:0002630", "MEDGEN:383853", "MESH:C565524", "MedDRA:10019463", "OMIM:235000", "Orphanet:2128", "UMLS:C1856184"]}
{"category": ["biolink:Disease"], "description": "A disorder of the blood that is present at birth.", "id": "MONDO:0009332", "name": "Congenital hematological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital haematological system disease", "congenital hematological disorder", "congenital hematological system disease"], "xref": ["MEDGEN:760584", "NCIT:C104003", "UMLS:C3267032"]}
{"category": ["biolink:Disease"], "description": "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.", "id": "MONDO:0009333", "name": "Mullerian derivatives-lymphangiectasia-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005430", "MEDGEN:343489", "MESH:C536478", "OMIM:235255", "Orphanet:1655", "UMLS:C1856159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009334", "name": "Hemolytic anemia with thermal sensitivity of red cells", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hemolytic anemia with thermal sensitivity of red cells"], "xref": ["GARD:0015179", "MEDGEN:343488", "MESH:C565522", "OMIM:235370", "UMLS:C1856158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009336", "name": "Hemosiderosis, pulmonary, with deficiency of gamma-a globulin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hemosiderosis, pulmonary, with deficiency of gamma-a globulin"], "xref": ["GARD:0015180", "OMIM:235500"]}
{"category": ["biolink:Disease"], "description": "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.", "id": "MONDO:0009337", "name": "Hennekam lymphangiectasia-lymphedema syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCBE1 Hennekam syndrome", "Hennekam lymphangiectasia-lymphedema syndrome 1", "Hennekam lymphangiectasia-lymphedema syndrome type 1", "Hennekam syndrome caused by mutation in CCBE1"], "xref": ["GARD:0015181", "MEDGEN:860487", "OMIM:235510", "UMLS:C4012050"]}
{"category": ["biolink:Disease"], "description": "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.", "id": "MONDO:0009338", "name": "Hepatic veno-occlusive disease-immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VODI syndrome"], "xref": ["DOID:0112254", "GARD:0010083", "MEDGEN:344659", "MESH:C537257", "NANDO:1200341", "NANDO:2200714", "OMIM:235550", "Orphanet:79124", "SCTID:724361001", "UMLS:C1856128", "icd11.foundation:712514250"]}
{"category": ["biolink:Disease"], "description": "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.", "id": "MONDO:0009339", "name": "Congenital bile acid synthesis defect 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AKR1D1 congenital bile acid synthesis defect", "BASD2", "CBAS2", "bile acid synthesis defect, congenital, type 2", "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency", "congenital bile acid synthesis defect caused by mutation in AKR1D1", "congenital bile acid synthesis defect type 2"], "xref": ["DOID:0111069", "GARD:0010045", "MEDGEN:383840", "MESH:C535443", "OMIM:235555", "Orphanet:79303", "UMLS:C1856127"]}
{"category": ["biolink:Disease"], "description": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.", "id": "MONDO:0009340", "name": "Non-spherocytic hemolytic anemia due to hexokinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient", "hemolytic anaemia due to hexokinase deficiency", "hemolytic anemia due to hexokinase deficiency", "hemolytic anemia, nonspherocytic, due to hexokinase deficiency", "nonspherocytic hemolytic anaemia due to hexokinase deficiency", "nonspherocytic hemolytic anemia due to hexokinase deficiency"], "xref": ["DOID:0051006", "GARD:0003672", "MEDGEN:461693", "MESH:C562995", "OMIM:235700", "Orphanet:90031", "UMLS:C3150343"]}
{"category": ["biolink:Disease"], "description": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.", "id": "MONDO:0009341", "name": "Mowat-wilson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hirschsprung disease intellectual disability syndrome", "Hirschsprung disease-intellectual disability syndrome", "Mowat-Wilson syndrome", "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease"], "xref": ["DOID:0060485", "GARD:0009673", "ICD9:759.89", "MEDGEN:341067", "MESH:C536990", "NANDO:1200663", "NANDO:2200981", "NCIT:C74999", "NORD:1456", "OMIM:235730", "Orphanet:2152", "SCTID:703535000", "UMLS:C1856113", "icd11.foundation:1985672762"]}
{"category": ["biolink:Disease"], "description": "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0009342", "name": "Hirschsprung disease-hearing loss-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Santos-Mateus-Leal syndrome"], "xref": ["GARD:0000157", "MEDGEN:341066", "MESH:C565518", "OMIM:235740", "Orphanet:2155", "SCTID:721221000", "UMLS:C1856112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009343", "name": "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect"], "xref": ["MEDGEN:341065", "MESH:C538120", "MESH:C565517", "OMIM:235750", "UMLS:C1856111"]}
{"category": ["biolink:Disease"], "description": "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.", "id": "MONDO:0009344", "name": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Al Gazali-Donnai-Muller syndrome"], "xref": ["GARD:0000584", "MEDGEN:344653", "MESH:C535615", "OMIM:235760", "Orphanet:2153", "SCTID:721223002", "UMLS:C1856110"]}
{"category": ["biolink:Disease"], "description": "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.", "id": "MONDO:0009345", "name": "Histidinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:mostly_harmless", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIS deficiency", "Hal deficiency", "Histidinuria", "histidase deficiency", "histidine ammonia-lyase deficiency", "histidinemia", "histidinuria", "hyperhistidinemia"], "xref": ["DOID:0060168", "GARD:0006661", "ICD10CM:E70.41", "MEDGEN:113135", "MESH:C538320", "NORD:1245", "OMIM:235800", "Orphanet:2157", "SCTID:410058007", "UMLS:C0220992", "icd11.foundation:261052955"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009346", "name": "Histidinuria due to a renal tubular defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["histidinuria due to a renal tubular defect", "histidinuria-renal tubular defect syndrome"], "xref": ["GARD:0002708", "MEDGEN:82825", "MESH:C538321", "OMIM:235830", "Orphanet:2158", "UMLS:C0268642"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009347", "name": "Familial lipochrome histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:90743", "MESH:C562738", "OMIM:235900", "SCTID:234577004", "UMLS:C0334125"]}
{"category": ["biolink:Disease"], "description": "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.", "id": "MONDO:0009348", "name": "Classic hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["classic Hodgkin disease", "classical Hodgkin lymphoma", "classical Hodgkin's lymphoma"], "xref": ["GARD:0016529", "MEDGEN:9283", "NCIT:C7164", "OMIM:236000", "ONCOTREE:CHL", "Orphanet:391", "UMLS:C0019829", "icd11.foundation:1616050398"]}
{"category": ["biolink:Disease"], "description": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.", "id": "MONDO:0009349", "name": "Holoprosencephaly 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["HPE1", "holoprosencephaly 1", "holoprosencephaly 1, isolated cases", "holoprosencephaly type 1"], "xref": ["DOID:0110881", "GARD:0024660", "MEDGEN:78617", "NCIT:C75476", "OMIM:236100", "UMLS:C0266667"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.", "id": "MONDO:0009350", "name": "Holzgreve-wagner-rehder syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Holzgreve syndrome", "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome"], "xref": ["DOID:0060566", "GARD:0002728", "MEDGEN:344650", "MESH:C535327", "OMIM:236110", "Orphanet:2167", "UMLS:C1856095"]}
{"category": ["biolink:Disease"], "description": "Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.", "id": "MONDO:0009351", "name": "Homocarnosinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Homocarnosinase deficiency", "homocarnosinosis"], "xref": ["DOID:0060177", "GARD:0002730", "ICD9:277.89", "MEDGEN:75703", "MESH:C535328", "OMIM:236130", "Orphanet:2168", "SCTID:61764000", "UMLS:C0268632", "icd11.foundation:166229372"]}
{"category": ["biolink:Disease"], "description": "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.", "id": "MONDO:0009352", "name": "Classic homocystinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Homocystinuria due to Cystathionine Beta-Synthase Deficiency", "classic homocystinuria", "cystathionine beta-synthase deficiency", "homocystinuria due to cystathionine beta-synthase deficiency", "homocystinuria, B6-responsive and nonresponsive types", "thrombosis, hyperhomocysteinemic"], "xref": ["GARD:0006667", "MEDGEN:199606", "MedDRA:10071093", "NANDO:1201039", "NORD:1249", "OMIM:236200", "Orphanet:394", "SCTID:24308003", "UMLS:C0751202"]}
{"category": ["biolink:Disease"], "description": "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.", "id": "MONDO:0009353", "name": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTHFR deficiency", "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "methylene tetrahydrofolate reductase deficiency"], "xref": ["GARD:0002734", "MEDGEN:343470", "MESH:C537357", "NANDO:1201041", "OMIM:236250", "Orphanet:395", "SCTID:41797007", "UMLS:C1856061"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.", "id": "MONDO:0009354", "name": "Methylcobalamin deficiency type cble", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["functional methionine synthase deficiency type cblE", "homocystinuria-megaloblastic anemia, cbl e type", "methylcobalamin deficiency type cblE"], "xref": ["DOID:0050732", "DOID:0112255", "GARD:0003576", "MEDGEN:344640", "MESH:C565510", "NANDO:2201109", "NCIT:C142173", "OMIM:236270", "Orphanet:2169", "UMLS:C1856057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009355", "name": "Hooft disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hooft disease"], "xref": ["MEDGEN:75686", "MESH:C535329", "OMIM:236300", "UMLS:C0268479"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of humeroradial synostosis (disease).", "id": "MONDO:0009356", "name": "Autosomal recessive humeroradial synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive humeroradial synostosis (disease)", "humeroradial synostosis (disease), autosomal recessive"], "xref": ["GARD:0024661", "MEDGEN:1875232", "OMIM:236400", "UMLS:C5975703"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009357", "name": "Humeroradial synostosis with craniofacial anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["humeroradial synostosis with craniofacial anomalies"], "xref": ["GARD:0024662", "MEDGEN:369834", "MESH:C566888", "OMIM:236410", "UMLS:C1968717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009358", "name": "Hutterite cerebroosteonephrodysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hutterite cerebroosteonephrodysplasia syndrome"], "xref": ["MEDGEN:343466", "MESH:C536074", "OMIM:236450", "UMLS:C1856054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009359", "name": "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MARCH syndrome", "hydranencephaly with renal aplasia-dysplasia"], "xref": ["DOID:0080327", "GARD:0017922", "MEDGEN:343465", "MESH:C565507", "OMIM:236500", "Orphanet:500135", "UMLS:C1856053"]}
{"category": ["biolink:Disease"], "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.", "id": "MONDO:0009360", "name": "Hydrocephalus, nonsyndromic, autosomal recessive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC88C congenital hydrocephalus", "congenital hydrocephalus caused by mutation in CCDC88C", "hydrocephalus, congenital, 1", "hydrocephalus, nonsyndromic, autosomal recessive 1", "hydrocephalus, nonsyndromic, autosomal recessive type 1"], "xref": ["GARD:0024663", "MEDGEN:854455", "OMIM:236600", "UMLS:C3887608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009361", "name": "Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of sylvius", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hydrocephalus due to congenital stenosis of aqueduct of Sylvius"], "xref": ["GARD:0024664", "MEDGEN:608953", "OMIM:236635", "UMLS:C0431355"]}
{"category": ["biolink:Disease"], "description": "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.", "id": "MONDO:0009362", "name": "Growth delay-hydrocephaly-lung hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["game-Friedman-Paradice syndrome"], "xref": ["GARD:0002427", "MEDGEN:344639", "MESH:C535406", "OMIM:236640", "Orphanet:3035", "SCTID:716198008", "UMLS:C1856052"]}
{"category": ["biolink:Disease"], "description": "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.", "id": "MONDO:0009363", "name": "Hydrocephaly-tall stature-joint laxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Daish-Hardman-Lamont syndrome"], "xref": ["GARD:0001666", "MEDGEN:383828", "MESH:C535770", "OMIM:236660", "Orphanet:2181", "SCTID:732926009", "UMLS:C1856051"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.", "id": "MONDO:0009364", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["muscle-eye-brain-POMT1 related", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1"], "xref": ["DOID:0111237", "GARD:0024665", "MEDGEN:924974", "NCIT:C128118", "OMIM:236670", "UMLS:C4284790"]}
{"category": ["biolink:Disease"], "description": "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.", "id": "MONDO:0009365", "name": "Hydrolethalus syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYLS1 hydrolethalus syndrome", "hydrolethalus syndrome 1", "hydrolethalus syndrome caused by mutation in HYLS1", "hydrolethalus syndrome type 1"], "xref": ["DOID:0111355", "GARD:0015182", "MEDGEN:343455", "MESH:C565504", "OMIM:236680", "UMLS:C1856016"]}
{"category": ["biolink:Disease"], "description": "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)", "id": "MONDO:0009366", "name": "Normal pressure hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NPH", "chronic adult hydrocephalus", "hydrocephalus, normal pressure, 1"], "xref": ["DOID:1572", "EFO:1001065", "ICD9:331.5", "MEDGEN:42526", "MESH:D006850", "MedDRA:10029773", "OMIM:236690", "Orphanet:314928", "SCTID:30753002", "UMLS:C0020258"]}
{"category": ["biolink:Disease"], "description": "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.", "id": "MONDO:0009367", "name": "Mckusick-kaufman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaufman-Mckusick syndrome", "McKusick-Kaufman syndrome", "hydrometrocolpos-postaxial polydactyly syndrome"], "xref": ["DOID:0111255", "GARD:0003427", "ICD9:758.89", "MEDGEN:184924", "MESH:C538159", "MedDRA:10052312", "OMIM:236700", "Orphanet:2473", "SCTID:702407009", "UMLS:C0948368"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009368", "name": "Urofacial syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["urofacial syndrome type 1"], "xref": ["GARD:0024666", "OMIM:236730"]}
{"category": ["biolink:Disease"], "description": "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.", "id": "MONDO:0009369", "name": "Non-immune hydrops fetalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["non-immune HF", "non-immune fetal edema", "non-immune fetal hydrops", "non-immune foetal hydrops", "non-immune foetal oedema"], "xref": ["GARD:0017580", "ICD9:778.0", "MEDGEN:105327", "NCIT:C111905", "OMIM:236750", "Orphanet:363999", "SCTID:276509008", "UMLS:C0455988", "icd11.foundation:1182287637"]}
{"category": ["biolink:Disease"], "description": "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.", "id": "MONDO:0009370", "name": "L-2-hydroxyglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["L-2-HGA", "L-2-hydroxyglutaric acidemia", "L-2-hydroxyglutaric aciduria"], "xref": ["DOID:0050574", "GARD:0010472", "MEDGEN:341029", "OMIM:236792", "Orphanet:79314", "SCTID:237961001", "UMLS:C1855995", "icd11.foundation:562958433"]}
{"category": ["biolink:Disease"], "description": "3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.", "id": "MONDO:0009371", "name": "3-hydroxyisobutyric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-hydroxyisobutyric aciduria"], "xref": ["GARD:0005662", "ICD9:791.9", "MEDGEN:90996", "MESH:C535312", "OMIM:236795", "Orphanet:939", "SCTID:237957007", "UMLS:C0342737", "icd11.foundation:1293648631"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.", "id": "MONDO:0009372", "name": "Encephalopathy due to hydroxykynureninuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Xanthurenic aciduria", "kynureninase deficiency"], "xref": ["DOID:0112257", "GARD:0010039", "ICD9:270.2", "MEDGEN:78681", "MESH:C536081", "OMIM:236800", "Orphanet:79155", "SCTID:72945002", "UMLS:C0268474", "icd11.foundation:1145853843"]}
{"category": ["biolink:Disease"], "description": "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.", "id": "MONDO:0009373", "name": "Seizures-intellectual disability due to hydroxylysinuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016709", "MEDGEN:343450", "MESH:C565502", "OMIM:236900", "Orphanet:79156", "UMLS:C1855986"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009374", "name": "Hydroxyprolinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:mostly_harmless", "mondo:otar"], "synonym": ["Hydroxyprolinemia", "hydroxyprolinemia", "hydroxyprolinemia (disease)"], "xref": ["HP:0003260", "ICD9:270.8", "MEDGEN:75691", "MESH:C562669", "OMIM:237000", "SCTID:25739007", "UMLS:C0268531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009375", "name": "Hymen, imperforate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hymen, imperforate"], "xref": ["ICD10CM:Q52.3", "ICD9:752.42", "MEDGEN:57775", "MESH:C562397", "OMIM:237100", "SCTID:65937002", "UMLS:C0152436"]}
{"category": ["biolink:Disease"], "description": "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.", "id": "MONDO:0009376", "name": "Carbamoyl phosphate synthetase i deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPS1 deficiency", "CPS1D", "carbamoyl phosphate synthetase I deficiency disease", "carbamoyl phosphate synthetase deficiency", "carbamoyl-phosphate synthase deficiency disease", "carbamoyl-phosphate synthetase I deficiency", "carbamoyl-phosphate synthetase deficiency", "carbamoylphosphate synthetase I deficiency"], "xref": ["DOID:9280", "EFO:0007193", "GARD:0007269", "MEDGEN:907954", "MESH:D020165", "MedDRA:10058297", "NANDO:1200803", "NANDO:2200478", "NCIT:C84612", "NORD:889", "OMIM:237300", "Orphanet:147", "SCTID:62522004", "UMLS:C4082171", "icd11.foundation:327894003"]}
{"category": ["biolink:Disease"], "description": "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.", "id": "MONDO:0009377", "name": "Hyperammonemia due to n-acetylglutamate synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NAGS deficiency", "hyperammonemia due to N-acetylglutamate synthase deficiency"], "xref": ["DOID:0112258", "GARD:0007158", "MEDGEN:120649", "MESH:C536109", "NANDO:1200808", "NANDO:2200477", "NANDO:2201084", "NCIT:C129307", "OMIM:237310", "Orphanet:927", "SCTID:57119000", "UMLS:C0268543"]}
{"category": ["biolink:Disease"], "description": "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.", "id": "MONDO:0009378", "name": "Hyper-beta-alaninemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyper-beta-alaninemia", "hyperalaninemia"], "xref": ["GARD:0010267", "ICD9:270.8", "MEDGEN:75702", "MESH:C562684", "OMIM:237400", "Orphanet:309147", "SCTID:2359002", "UMLS:C0268630"]}
{"category": ["biolink:Disease"], "description": "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.", "id": "MONDO:0009379", "name": "Rotor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rotor syndrome", "hyperbilirubinemia, Rotor type", "hyperbilirubinemia, rotor type, digenic"], "xref": ["GARD:0000218", "MEDGEN:67435", "MedDRA:10039234", "OMIM:237450", "Orphanet:3111", "SCTID:32891000", "UMLS:C0220991", "icd11.foundation:1965776012"]}
{"category": ["biolink:Disease"], "description": "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.", "id": "MONDO:0009380", "name": "Dubin-johnson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dubin Johnson Syndrome", "Dubin-Johnson syndrome", "Dubin-Sprinz disease", "Sprinz-Nelson syndrome", "chronic idiopathic jaundice", "hyperbilirubinemia type 2"], "xref": ["DOID:12308", "GARD:0002793", "MEDGEN:7181", "MESH:D007566", "MedDRA:10013800", "NCIT:C34741", "NORD:1063", "OMIM:237500", "Orphanet:234", "SCTID:44553005", "UMLS:C0022350", "icd11.foundation:1691610999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009381", "name": "Hyperbilirubinemia, conjugated, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0024667", "MEDGEN:98323", "MESH:C562885", "OMIM:237550", "SCTID:235906009", "UMLS:C0400964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009382", "name": "Hyperbilirubinemia, shunt, primary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PSHB", "hyperbilirubinemia, shunt, primary"], "xref": ["GARD:0024668", "MEDGEN:763312", "OMIM:237800", "UMLS:C3550398"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009383", "name": "Transient familial neonatal hyperbilirubinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lucey-Driscoll syndrome", "hyperbilirubinemia, familial transient neonatal"], "xref": ["GARD:0002791", "MEDGEN:75718", "MESH:C562692", "OMIM:237900", "Orphanet:2312", "UMLS:C0270210"]}
{"category": ["biolink:Disease"], "description": "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.", "id": "MONDO:0009384", "name": "Leydig cell hypoplasia, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LHCGR Leydig cell hypoplasia", "Leydig cell hypoplasia caused by mutation in LHCGR", "leydig cell hypoplasia with hypergonadotropic hypogonadism", "leydig cell hypoplasia with pseudohermaphroditism"], "xref": ["GARD:0024669", "MEDGEN:120576", "OMIM:238320", "UMLS:C0266432"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009385", "name": "Hyperleucine-isoleucinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperleucine-Isoleucinemia"], "xref": ["MEDGEN:82821", "MESH:C562674", "OMIM:238340", "SCTID:7046009", "UMLS:C0268574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009386", "name": "Hyperlexia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperlexia"], "xref": ["MEDGEN:341011", "MESH:C565500", "OMIM:238350", "UMLS:C1855928"]}
{"category": ["biolink:Disease"], "description": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.", "id": "MONDO:0009387", "name": "Familial lipoprotein lipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["LPL deficiency", "familial lipoprotein lipase deficiency (disorder) [ambiguous]", "familial lipoprotein lipase deficiency with type I phenotype", "high density lipoprotein cholesterol level QTL 11", "hyperchylomicronemia"], "xref": ["DOID:14118", "GARD:0012241", "ICD9:272.3", "MEDGEN:7352", "MESH:D008072", "NCIT:C84771", "NORD:1129", "OMIM:238600", "Orphanet:309015", "SCTID:275598004", "UMLS:C0023817", "icd11.foundation:1829539217"]}
{"category": ["biolink:Disease"], "description": "Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.", "id": "MONDO:0009388", "name": "Hyperlysinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperlysinemia", "hyperlysinemia (disease)", "hyperlysinemia type I", "lysine alpha-ketoglutarate reductase deficiency"], "xref": ["DOID:9274", "GARD:0002828", "HP:0002161", "ICD9:270.7", "MEDGEN:82816", "NCIT:C123433", "OMIM:238700", "Orphanet:2203", "SCTID:58558003", "UMLS:C0268553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009389", "name": "Hyperlysinemia due to defect in lysine transport into mitochondria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0015183", "MEDGEN:341010", "MESH:C565499", "OMIM:238710", "UMLS:C1855927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009390", "name": "Hyperlysinuria with hyperammonemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperlysinuria with hyperammonemia"], "xref": ["ICD9:270.7", "MEDGEN:120650", "OMIM:238750", "SCTID:342553006", "UMLS:C0268555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009391", "name": "Hypermetabolism due to defect in mitochondria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypermetabolism due to defect in mitochondria", "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1"], "xref": ["MEDGEN:344612", "MESH:C565498", "OMIM:238800", "UMLS:C1855926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009392", "name": "Hyperopia, high", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperopia, high"], "xref": ["MEDGEN:341009", "MESH:C565497", "OMIM:238950", "UMLS:C1855925"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.", "id": "MONDO:0009393", "name": "Ornithine translocase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHH syndrome", "ORNT1 deficiency", "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome", "ornithine carrier deficiency", "ornithine translocase deficiency", "triple H syndrome"], "xref": ["DOID:0050720", "GARD:0002830", "MEDGEN:82815", "MESH:C538380", "NANDO:2200485", "NCIT:C129029", "OMIM:238970", "Orphanet:415", "SCTID:30287008", "UMLS:C0268540"]}
{"category": ["biolink:Disease"], "description": "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.", "id": "MONDO:0009394", "name": "Juvenile paget disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hereditary Hyperphosphatasia", "JPG", "familial hyperphosphatasia", "familial osteoectasia", "hereditary hyperphosphatasia", "hyperostosis corticalis deformans juvenilis", "juvenile Paget disease", "juvenile Paget's disease"], "xref": ["DOID:0081368", "GARD:0002831", "MEDGEN:75678", "MESH:C537701", "NCIT:C131861", "NORD:1230", "OMIM:239000", "Orphanet:2801", "SCTID:9723006", "UMLS:C0268414", "icd11.foundation:762002965"]}
{"category": ["biolink:Disease"], "description": "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.", "id": "MONDO:0009395", "name": "Hyperostosis corticalis generalisata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Van Buchem disease", "endosteal hyperostosis", "hyperostosis corticalis generalisata", "hyperphosphatasemia tarda", "van Buchem disease", "van Buchem disease type 1"], "xref": ["DOID:0080036", "GARD:0002833", "MEDGEN:98484", "NCIT:C131812", "OMIM:239100", "Orphanet:3416", "SCTID:59763006", "UMLS:C0432272", "icd11.foundation:241514592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009396", "name": "Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperparathyroidism, neonatal self-limited primary, with hypercalciuria"], "xref": ["MEDGEN:344611", "MESH:C565496", "OMIM:239199", "UMLS:C1855924"]}
{"category": ["biolink:Disease"], "description": "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia ( 3.5 mM) from birth and associated with major hyperparathyroidism.", "id": "MONDO:0009397", "name": "Neonatal severe primary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NSHPT", "hyperparathyroidism, neonatal"], "xref": ["GARD:0002838", "MEDGEN:331326", "MESH:C563375", "NCIT:C131853", "OMIM:239200", "Orphanet:417", "SCTID:715218009", "UMLS:C1832615", "icd11.foundation:1929875111"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.", "id": "MONDO:0009398", "name": "Hyperphosphatasia with intellectual disability syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIGV hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 1", "hyperphosphatasia with intellectual disability syndrome type 1", "hyperphosphatasia with mental retardation syndrome 1", "hyperphosphatasia with mental retardation syndrome type 1", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV"], "xref": ["DOID:0070433", "GARD:0018349", "MEDGEN:1647044", "OMIM:239300", "UMLS:C4551502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009399", "name": "Hyperphosphatemia, polyuria, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperphosphatemia, polyuria, and seizures"], "xref": ["MEDGEN:343444", "MESH:C565494", "OMIM:239350", "UMLS:C1855922"]}
{"category": ["biolink:Disease"], "description": "Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).", "id": "MONDO:0009400", "name": "Hyperprolinemia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRODH hyperprolinemia", "hyperprolinemia caused by mutation in PRODH", "hyperprolinemia type 1", "proline oxidase deficiency"], "xref": ["DOID:0080542", "GARD:0024670", "ICD9:270.8", "MEDGEN:120645", "MedDRA:10058513", "OMIM:239500", "Orphanet:419", "SCTID:61071003", "UMLS:C0268529"]}
{"category": ["biolink:Disease"], "description": "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.", "id": "MONDO:0009401", "name": "Hyperprolinemia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1-pyrroline-5-carboxylate dehydrogenase activity disease", "ALDH4A1 hyperprolinemia", "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency", "delta1-pyrroline-5-carboxylate dehydrogenase deficiency", "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity", "hyperprolinemia caused by mutation in ALDH4A1", "hyperprolinemia type 2"], "xref": ["DOID:0080543", "GARD:0006710", "MEDGEN:419175", "MESH:C538385", "MedDRA:10058512", "MedDRA:10058514", "OMIM:239510", "Orphanet:79101", "SCTID:717181004", "UMLS:C2931835"]}
{"category": ["biolink:Disease"], "description": "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.", "id": "MONDO:0009402", "name": "Acrofrontofacionasal dysostosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Naguib-Richieri-Costa syndrome", "acrofrontofacionasal dysostosis 2", "acrofrontofacionasal dysostosis type 2", "acrofrontofacionasal syndrome type 2", "hypertelorism-hypospadias-polysyndactyly syndrome"], "xref": ["GARD:0000287", "MEDGEN:383797", "MESH:C538332", "OMIM:239710", "Orphanet:2211", "SCTID:721835008", "UMLS:C1855904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009403", "name": "Hypertelorism and tetralogy of fallot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertelorism and tetralogy of fallot"], "xref": ["MEDGEN:344606", "MESH:C538386", "OMIM:239711", "UMLS:C1855903"]}
{"category": ["biolink:Disease"], "description": "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.", "id": "MONDO:0009404", "name": "Hypertelorism, microtia, facial clefting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bixler-Christian-Gorlin syndrome", "HMC syndrome", "hypertelorism, microtia, facial clefting syndrome", "hypertelorism-microtia-facial clefting syndrome"], "xref": ["DOID:14670", "GARD:0000897", "MEDGEN:113104", "MESH:C537632", "OMIM:239800", "Orphanet:2213", "SCTID:721836009", "UMLS:C0220742"]}
{"category": ["biolink:Disease"], "description": "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0009405", "name": "Cervical hypertrichosis-peripheral neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001226", "MEDGEN:341004", "MESH:C565492", "OMIM:239840", "Orphanet:2218", "UMLS:C1855902"]}
{"category": ["biolink:Disease"], "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.", "id": "MONDO:0009406", "name": "Hypertrichotic osteochondrodysplasia cantu type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cantu syndrome", "hypertrichotic osteochondrodysplasia (Cantu syndrome)"], "xref": ["DOID:0060569", "GARD:0008585", "MEDGEN:208647", "MESH:C535572", "OMIM:239850", "Orphanet:1517", "SCTID:239087008", "UMLS:C0795905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009407", "name": "Hypertrophic neuropathy and cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertrophic neuropathy and cataract"], "xref": ["MEDGEN:344602", "MESH:C565490", "OMIM:239900", "UMLS:C1855885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009408", "name": "Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase"], "xref": ["MEDGEN:383794", "MESH:C565489", "OMIM:240000", "UMLS:C1855884"]}
{"category": ["biolink:Disease"], "description": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.", "id": "MONDO:0009411", "name": "Autoimmune polyendocrine syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIRE autoimmune polyendocrinopathy", "APECED syndrome", "APS type 1", "APS1", "Autoimmune Polyglandular Syndrome Type 1", "MEDAC syndrome", "Whitaker syndrom", "aire autoimmune polyendocrinopathy", "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome", "autoimmune polyendocrine syndrome type 1", "autoimmune polyendocrinopathy caused by mutation in AIRE", "autoimmune polyendocrinopathy caused by mutation in aire", "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome", "autoimmune polyglandular syndrome type 1", "ham syndrome", "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome", "multiple endocrine deficiency-Addison disease-candidiasis syndrome", "polyglandular autoimmune syndrome type 1"], "xref": ["DOID:0050167", "GARD:0008466", "ICD9:258.8", "MEDGEN:39125", "NANDO:2200346", "NANDO:2200738", "NCIT:C129727", "NORD:798", "OMIM:240300", "Orphanet:3453", "SCTID:11244009", "UMLS:C0085859"]}
{"category": ["biolink:Disease"], "description": "A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.", "id": "MONDO:0009412", "name": "Scurvy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ascorbic acid deficiency", "deficiency of vitamin C", "scurvy", "vitamin C deficiency"], "xref": ["DOID:13577", "DOID:13724", "EFO:1001169", "ICD10CM:E54", "ICD9:267", "MEDGEN:20684", "MESH:D001206", "MESH:D012614", "MedDRA:10039768", "MedDRA:10047623", "NCIT:C35010", "OMIM:240400", "SCTID:76169001", "UMLS:C0036474", "icd11.foundation:708602629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009413", "name": "Immunodeficiency, common variable, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 2", "immunodeficiency, common variable, type 2"], "xref": ["DOID:0081145", "GARD:0015184", "MEDGEN:461704", "OMIM:240500", "UMLS:C3150354"]}
{"category": ["biolink:Disease"], "description": "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.", "id": "MONDO:0009414", "name": "Glycogen storage disorder due to hepatic glycogen synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to hepatic glycogen synthase deficiency", "GSD type 0a", "glycogen storage disease due to glycogen synthase deficiency of liver", "glycogen storage disease due to hepatic glycogen synthase deficiency", "glycogen storage disease due to liver glycogen synthase deficiency", "glycogen storage disease type 0a", "glycogen synthase deficiency", "glycogenosis type 0a", "liver glycogen storage disease due to glycogen synthase deficiency"], "xref": ["GARD:0002513", "MEDGEN:343430", "MESH:C565485", "NANDO:1200824", "NANDO:1200838", "NANDO:2200537", "NANDO:2201151", "OMIM:240600", "Orphanet:2089", "SCTID:237964009", "UMLS:C1855861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009415", "name": "Hypoglycemia, leucine-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypoglycemia of infancy, leucine-sensitive", "hypoglycemia, leucine-induced"], "xref": ["DOID:0112262", "GARD:0009915", "MEDGEN:82888", "MESH:C537150", "OMIM:240800", "SCTID:62151007", "UMLS:C0271714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009416", "name": "Hypoinsulinemic hypoglycemia and body hemihypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112263", "GARD:0017352", "MEDGEN:480014", "OMIM:240900", "Orphanet:293964", "UMLS:C3278384"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.", "id": "MONDO:0009417", "name": "Hypergonadotropic hypogonadism-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lubinsky syndrome"], "xref": ["GARD:0000298", "MEDGEN:344596", "MESH:C543092", "OMIM:240950", "Orphanet:2410", "SCTID:721233005", "UMLS:C1855859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009418", "name": "Hypogonadism with low-grade mental deficiency and microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypogonadism with low-grade mental deficiency and microcephaly"], "xref": ["MEDGEN:383787", "MESH:C565482", "OMIM:241000", "UMLS:C1855858"]}
{"category": ["biolink:Disease"], "description": "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.", "id": "MONDO:0009419", "name": "Woodhouse-sakati syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Woodhouse-Sakati syndrome", "diabetes-hypogonadism-deafness-intellectual disability syndrome", "woodhouse-Sakati syndrome"], "xref": ["DOID:0112264", "GARD:0005592", "ICD9:759.89", "MEDGEN:83337", "MESH:C536742", "OMIM:241080", "Orphanet:3464", "SCTID:237616002", "UMLS:C0342286", "icd11.foundation:1893572805"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.", "id": "MONDO:0009420", "name": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Al Awadi-Farag-Teebi syndrome"], "xref": ["GARD:0016588", "MEDGEN:388650", "MESH:C567109", "OMIM:241090", "Orphanet:2232", "SCTID:719275009", "UMLS:C2673480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009421", "name": "Hypogonadism, male", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypogonadism, male"], "xref": ["ICD9:257.2", "MEDGEN:57480", "OMIM:241100", "SCTID:48723006", "UMLS:C0151721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009422", "name": "Hypohidrosis with abnormal palmar dermal ridges", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypohidrosis with abnormal palmar dermal Ridges"], "xref": ["MEDGEN:340989", "MESH:C565481", "OMIM:241120", "UMLS:C1855856"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009423", "name": "Hypokalemic alkalosis, familial, with specific renal tubulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypokalemic alkalosis, familial, with specific renal tubulopathy"], "xref": ["MEDGEN:78677", "MESH:C562654", "OMIM:241150", "SCTID:81987005", "UMLS:C0268444"]}
{"category": ["biolink:Disease"], "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.", "id": "MONDO:0009424", "name": "Bartter disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BARTS2", "Bartter disease type 2", "Bartter syndrome caused by mutation in KCNJ1", "Bartter syndrome type 2", "Bartter syndrome, type 2", "KCNJ1 Bartter syndrome", "hyperprostaglandin E syndrome 2"], "xref": ["DOID:0110143", "GARD:0022483", "MEDGEN:343428", "MESH:C537651", "OMIM:241200", "Orphanet:620220", "SCTID:700109009", "UMLS:C1855849"]}
{"category": ["biolink:Disease"], "description": "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.", "id": "MONDO:0009425", "name": "Hypomandibular faciocranial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypomandibular faciocranial dysostosis"], "xref": ["GARD:0002907", "MEDGEN:343427", "MESH:C537154", "OMIM:241310", "Orphanet:1790", "SCTID:721845005", "UMLS:C1855848"]}
{"category": ["biolink:Disease"], "description": "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.", "id": "MONDO:0009426", "name": "Sanjad-Sakati syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HRD syndrome", "HRDS", "Richardson-Kirk syndrome", "SSS", "Sanjad-Sakati syndrome", "hypoparathyroidism with short stature, intellectual disability and seizures", "hypoparathyroidism-intellectual disability-dysmorphism syndrome", "hypoparathyroidism-retardation-dysmorphism syndrome", "hypoparathyroidism-short stature-intellectual disability-seizures syndrome"], "xref": ["DOID:0060348", "GARD:0000411", "MEDGEN:340984", "MESH:C537157", "NCIT:C133727", "OMIM:241410", "Orphanet:2323", "UMLS:C1855840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009429", "name": "Hypophosphatemia, renal, with intracerebral calcifications", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypophosphatemia, renal, with intracerebral calcifications"], "xref": ["MEDGEN:383776", "MESH:C565478", "OMIM:241519", "UMLS:C1855809"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.", "id": "MONDO:0009430", "name": "Hypophosphatemic rickets, autosomal recessive, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DMP1 autosomal recessive hypophosphatemic rickets", "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1", "hypophosphatemic rickets, AR", "hypophosphatemic rickets, autosomal recessive, 1", "hypophosphatemic rickets, autosomal recessive, type 1"], "xref": ["GARD:0018416", "MEDGEN:1632314", "MESH:C562792", "OMIM:241520", "UMLS:C4551495"]}
{"category": ["biolink:Disease"], "description": "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.", "id": "MONDO:0009431", "name": "Hereditary hypophosphatemic rickets with hypercalciuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHRH", "hypercalciuric hypophosphatemic rickets", "hypophosphatemic hypercalciuric rickets", "hypophosphatemic rickets with hypercalciuria"], "xref": ["DOID:0050947", "GARD:0016977", "MEDGEN:501133", "MESH:C562793", "NCIT:C131450", "OMIM:241530", "Orphanet:157215", "SCTID:237891005", "UMLS:C1853271"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009432", "name": "Hypopituitarism, congenital, with central diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypopituitarism, congenital, with central diabetes insipidus"], "xref": ["MEDGEN:340970", "MESH:C565477", "OMIM:241540", "UMLS:C1855800"]}
{"category": ["biolink:Disease"], "description": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.", "id": "MONDO:0009433", "name": "Hypoplastic left heart syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GJA1 hypoplastic left heart syndrome", "hypoplastic left heart syndrome 1", "hypoplastic left heart syndrome caused by mutation in GJA1", "hypoplastic left heart syndrome type 1"], "xref": ["GARD:0024671", "MEDGEN:1646779", "OMIM:241550", "UMLS:C4551854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009434", "name": "Hypoproteinemia, hypercatabolic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypoproteinemia, hypercatabolic"], "xref": ["DOID:0111981", "GARD:0015185", "MEDGEN:343422", "MESH:C565476", "OMIM:241600", "UMLS:C1855796"]}
{"category": ["biolink:Disease"], "description": "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.", "id": "MONDO:0009435", "name": "Hypospadias-intellectual disability, goldblatt type syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Goldblatt-Wallis syndrome"], "xref": ["GARD:0002928", "MEDGEN:162896", "MESH:C563067", "OMIM:241760", "Orphanet:2261", "SCTID:716096005", "UMLS:C0795989"]}
{"category": ["biolink:Disease"], "description": "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.", "id": "MONDO:0009436", "name": "Congenital hypothalamic hamartoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Pallister-Hall-like syndrome", "congenital hypothalamic hamartoma syndrome", "hamartoma of hypothalamus", "hypothalamic hamartoma", "hypothalamic hamartomas"], "xref": ["GARD:0002934", "ICD9:759.6", "MEDGEN:1724922", "MESH:C537158", "NCIT:C4385", "OMIM:241800", "Orphanet:2113", "SCTID:237714006", "UMLS:C5435677", "icd11.foundation:2057991470"]}
{"category": ["biolink:Disease"], "description": "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.", "id": "MONDO:0009437", "name": "Bamforth-lazarus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Athyroidal hypothyroidism-spiky hair-cleft palate syndrome", "Bamforth syndrome", "Bamforth-Lazarus syndrome", "hypothyroidism-cleft palate syndrome"], "xref": ["DOID:0050655", "GARD:0000414", "MEDGEN:343420", "MESH:C537901", "OMIM:241850", "Orphanet:1226", "SCTID:722375007", "UMLS:C1855794", "icd11.foundation:1747690671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009438", "name": "Hypouricemia, hypercalcinuria, and decreased bone density", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypouricemia, hypercalcinuria, and decreased bone density"], "xref": ["GARD:0015186", "MEDGEN:343419", "MESH:C565475", "OMIM:242050", "UMLS:C1855793"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.", "id": "MONDO:0009439", "name": "Autosomal recessive congenital ichthyosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI2", "autosomal recessive congenital ichthyosis type 2", "ichthyosis, congenital, autosomal recessive type 2"], "xref": ["DOID:0060710", "GARD:0015187", "MEDGEN:854762", "NCIT:C132827", "OMIM:242100", "UMLS:C3888093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009440", "name": "Ichthyosiform erythroderma, corneal involvement, and hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002946", "MEDGEN:224809", "MESH:C537363", "OMIM:242150", "SCTID:403780007", "UMLS:C1275089"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.", "id": "MONDO:0009441", "name": "Autosomal recessive congenital ichthyosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI1", "autosomal recessive congenital ichthyosis 1", "autosomal recessive congenital ichthyosis type 1", "ichthyosis, congenital, autosomal recessive type 1"], "xref": ["DOID:0060656", "GARD:0003170", "MEDGEN:1635401", "MESH:D017490", "OMIM:242300", "UMLS:C4551630"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009442", "name": "Ichthyosis congenita with biliary atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ichthyosis congenita with biliary atresia"], "xref": ["MEDGEN:140780", "MESH:C562886", "OMIM:242400", "SCTID:235916001", "UMLS:C0400974"]}
{"category": ["biolink:Disease"], "description": "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.", "id": "MONDO:0009443", "name": "Autosomal recessive congenital ichthyosis 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCI4B", "HI", "Harlequin Ichthyosis", "autosomal recessive congenital ichthyosis type 4B", "harlequin ichthyosis", "hi", "ichthyosis , congenital, autosomal recessive 4b (harlequin)", "ichthyosis congenita, Harlequin type", "ichthyosis fetalis, Harlequin type", "ichthyosis, congenital, autosomal recessive type 4B"], "xref": ["DOID:0060713", "GARD:0006568", "MEDGEN:108615", "MedDRA:10019163", "NANDO:1200614", "NANDO:2200992", "NCIT:C98934", "NORD:1287", "OMIM:242500", "Orphanet:457", "SCTID:205548006", "UMLS:C0598226"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0009444", "name": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jagell-Holmgren-Hofer syndrome"], "xref": ["GARD:0000292", "MEDGEN:344577", "MESH:C537364", "OMIM:242510", "Orphanet:2269", "UMLS:C1855788"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.", "id": "MONDO:0009445", "name": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dykes-Markes-Harper syndrome", "Dykes-Marks-Harper syndrome"], "xref": ["GARD:0001993", "ICD9:571.8", "MEDGEN:266150", "MESH:C535727", "OMIM:242520", "Orphanet:2274", "SCTID:403779009", "UMLS:C1275088"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.", "id": "MONDO:0009446", "name": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Passwell-Goodman-Siprkowski syndrome"], "xref": ["GARD:0004641", "MEDGEN:340966", "MESH:C536274", "OMIM:242530", "Orphanet:2278", "UMLS:C1855787"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009447", "name": "Ichthyosis, split hairs, and amino aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ichthyosis, split hairs, and amino aciduria"], "xref": ["MEDGEN:344576", "MESH:C565471", "OMIM:242550", "UMLS:C1855786"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.", "id": "MONDO:0009448", "name": "Iminoglycinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["iminoglycinuria", "iminoglycinuria, digenic"], "xref": ["DOID:0112265", "GARD:0008424", "ICD9:270.8", "MEDGEN:124342", "MESH:C536285", "OMIM:242600", "Orphanet:42062", "SCTID:84121007", "UMLS:C0268654", "icd11.foundation:664428532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009449", "name": "Ciliary dyskinesia with defective radial spokes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliary dyskinesia with defective radial spokes"], "xref": ["GARD:0002981", "ICD9:759.89", "MEDGEN:137933", "MESH:C536286", "OMIM:242670", "SCTID:233664005", "UMLS:C0340035"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009450", "name": "Ciliary dyskinesia with excessively long cilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliary dyskinesia with excessively long cilia"], "xref": ["GARD:0002982", "ICD9:759.89", "MEDGEN:90947", "MESH:C536287", "OMIM:242680", "SCTID:233665006", "UMLS:C0340036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009451", "name": "Nezelof syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nezelof syndrome", "Nezelof's syndrome", "T-lymphocyte deficiency"], "xref": ["DOID:2012", "GARD:0007201", "ICD10CM:D81.4", "ICD9:279.13", "MEDGEN:101814", "MESH:C536288", "OMIM:242700", "Orphanet:83471", "SCTID:55602000", "UMLS:C0152094", "icd11.foundation:215376282"]}
{"category": ["biolink:Disease"], "description": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.", "id": "MONDO:0009452", "name": "Vici syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dionisi-Vici-Sabetta-Gambarara syndrome", "Vici syndrome", "absent corpus callosum-cataract-immunodeficiency syndrome", "corpus callosum agenesis-cataract-immunodeficiency syndrome", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"], "xref": ["DOID:0060356", "GARD:0000448", "MEDGEN:340962", "MESH:C535566", "NCIT:C138174", "OMIM:242840", "Orphanet:1493", "SCTID:719824001", "UMLS:C1855772"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.", "id": "MONDO:0009454", "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome", "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1", "immunodeficiency-centromeric instability-facial anomalies syndrome 1", "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B", "immunodeficiency-centromeric instability-facial anomalies syndrome type 1"], "xref": ["DOID:0090008", "GARD:0015188", "MEDGEN:1636193", "NCIT:C156430", "OMIM:242860", "UMLS:C4551557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009456", "name": "Immunoerythromyeloid hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Immunoerythromyeloid hypoplasia"], "xref": ["GARD:0024672", "OMIM:242880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009457", "name": "Immunoglobulin d level in plasma, low", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:344569", "OMIM:242890", "UMLS:C1855761"]}
{"category": ["biolink:Disease"], "description": "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.", "id": "MONDO:0009458", "name": "Schimke immuno-osseous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "spondyloepiphyseal dysplasia - nephrotic syndrome", "spondyloepiphyseal dysplasia-nephrotic syndrome"], "xref": ["DOID:0060490", "GARD:0004984", "MEDGEN:164078", "MESH:C536629", "MedDRA:10048699", "NANDO:1200337", "NANDO:2200711", "NCIT:C135087", "NORD:1691", "OMIM:242900", "Orphanet:1830", "SCTID:723995003", "UMLS:C0877024", "icd11.foundation:2002226225"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)", "id": "MONDO:0009459", "name": "Channelopathy-associated congenital insensitivity to pain, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN2D", "SCN9A-related congenital insensitivity to pain", "autosomal recessive hereditary sensory neuropathy type IID", "channelopathy-associated CIP", "congenital insensitivity to pain with anosmia and neuropathic arthropathy", "indifference to pain, congenital, autosomal recessive"], "xref": ["GARD:0012267", "MEDGEN:344563", "NCIT:C125386", "OMIM:243000", "Orphanet:88642", "UMLS:C1855739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009460", "name": "Indolylacroyl glycinuria with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["indolylacroyl glycinuria with intellectual disability", "indolylacroyl glycinuria with mental retardation"], "xref": ["MEDGEN:340949", "MESH:C565466", "OMIM:243050", "UMLS:C1855738"]}
{"category": ["biolink:Disease"], "description": "A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).", "id": "MONDO:0009461", "name": "Spermatogenic failure 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SPGF5", "macrocephalic sperm head syndrome", "macrozoospermia with multiflagellar polyploid spermatozoa", "male infertility due to large-headed multiflagellar polyploid spermatozoa", "male infertility due to macrozoospermia", "male infertility with large-headed, multiflagellar, polyploid spermatozoa", "spermatogenic failure 5", "spermatogenic failure type 5"], "xref": ["DOID:0070183", "GARD:0012385", "MEDGEN:98020", "MESH:C562903", "OMIM:243060", "Orphanet:137893", "SCTID:236806004", "UMLS:C0403812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009462", "name": "Inosine phosphorylase deficiency, immune defect due to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inosine phosphorylase deficiency, immune defect due to"], "xref": ["MEDGEN:344562", "MESH:C565465", "OMIM:243080", "UMLS:C1855737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009463", "name": "Internal carotid arteries, hypoplasia of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["internal carotid arteries, hypoplasia of"], "xref": ["MEDGEN:383757", "OMIM:243100", "UMLS:C1855736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009464", "name": "Immunodeficiency with defective t-cell response to interleukin 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immunodeficiency with defective T-cell response to Interleukin type 1", "immunodeficiency with defective T-cell response to interleukin 1"], "xref": ["GARD:0024673", "MEDGEN:340948", "OMIM:243110", "UMLS:C1855735"]}
{"category": ["biolink:Disease"], "description": "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.", "id": "MONDO:0009465", "name": "Multiple intestinal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated multiple intestinal atresia", "multiple intestinal atresia"], "xref": ["GARD:0003013", "ICD9:751.8", "MEDGEN:65090", "MESH:C562441", "MedDRA:10028210", "Orphanet:2300", "SCTID:95472001", "UMLS:C0220744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009467", "name": "Natal teeth-intestinal pseudoobstruction-patent ductus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar"], "xref": ["MEDGEN:340945", "MESH:C538341", "OMIM:243185", "Orphanet:1654", "UMLS:C1855732"]}
{"category": ["biolink:Disease"], "description": "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.", "id": "MONDO:0009468", "name": "Pseudotumor cerebri", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IIH", "Idiopathic Intracranial Hypertension", "benign intracran. hypt.", "benign intracranial hypertension", "idiopathic intracranial hypertension", "pseudotumor cerebri"], "xref": ["DOID:11459", "EFO:1001132", "GARD:0004561", "ICD10CM:G93.2", "ICD9:348.2", "MEDGEN:18732", "MESH:D011559", "MedDRA:10037149", "NCIT:C85035", "NORD:1294", "OMIM:243200", "Orphanet:238624", "SCTID:68267002", "UMLS:C0033845", "icd11.foundation:815670637"]}
{"category": ["biolink:Disease"], "description": "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.", "id": "MONDO:0009469", "name": "Benign recurrent intrahepatic cholestasis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ATP8B1 benign recurrent intrahepatic cholestasis", "BRIC1", "Bric type 1", "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1", "cholestasis, benign recurrent intrahepatic, type 1"], "xref": ["DOID:0070231", "GARD:0010028", "MEDGEN:1637492", "OMIM:243300", "Orphanet:99960", "UMLS:C4551899"]}
{"category": ["biolink:Disease"], "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.", "id": "MONDO:0009470", "name": "Baraitser-winter syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTB Baraitser-Winter cerebrofrontofacial syndrome", "ACTB-related BAFopathy", "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB", "Baraitser-Winter syndrome 1", "Baraitser-Winter syndrome type 1", "Fryns-Aftimos syndrome", "cerebrofrontofacial syndrome"], "xref": ["DOID:0081112", "GARD:0015189", "MEDGEN:340943", "OMIM:243310", "UMLS:C1855722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009471", "name": "Intrinsic factor and r binder, combined congenital deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intrinsic factor and r binder, combined congenital deficiency of"], "xref": ["GARD:0015190", "MEDGEN:340942", "MESH:C565461", "OMIM:243320", "UMLS:C1855721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009472", "name": "Acetylation, slow", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acetylation, slow"], "xref": ["MEDGEN:164207", "OMIM:243400", "UMLS:C0878587"]}
{"category": ["biolink:Disease"], "description": "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.", "id": "MONDO:0009473", "name": "Isotretinoin-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kawashima syndrome", "microtia-aortic arch syndrome"], "xref": ["GARD:0009675", "MEDGEN:96600", "MESH:C535542", "OMIM:243440", "Orphanet:2306", "SCTID:722006004", "UMLS:C0432364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009474", "name": "Isovaleric acid, inability to smell", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["isovaleric acid, inability to smell"], "xref": ["MEDGEN:383751", "OMIM:243450", "UMLS:C1855714"]}
{"category": ["biolink:Disease"], "description": "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.", "id": "MONDO:0009475", "name": "Isovaleric acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Isovalericacidemia", "isovaleric acid CoA dehydrogenase deficiency", "isovaleric acidemia", "isovaleryl-CoA dehydrogenase deficiency"], "xref": ["DOID:14753", "GARD:0000465", "ICD10CM:E71.110", "MEDGEN:82822", "MESH:C538167", "NANDO:1200798", "NANDO:2200494", "NCIT:C98964", "NORD:712", "OMIM:243500", "Orphanet:33", "SCTID:87827003", "UMLS:C0268575"]}
{"category": ["biolink:Disease"], "description": "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.", "id": "MONDO:0009476", "name": "Atresia of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jejunal Atresia", "Jejunoileal atresia", "apple peel syndrome", "atresia of the small intestine", "congenital small intestine atresia", "intestinal atresia type IIIb", "jejunal atresia", "small intestinal atresia", "small intestine atresia"], "xref": ["GARD:0000140", "MEDGEN:78590", "MESH:C538260", "MedDRA:10010626", "NCIT:C98828", "NORD:1309", "OMIM:243600", "Orphanet:1201", "UMLS:C0266172", "icd11.foundation:1949256262"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).", "id": "MONDO:0009477", "name": "Stromme syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CILD31", "Stromme syndrome", "apple peel syndrome with microcephaly and ocular anomalies", "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome", "ciliary dyskinesia, primary, type 31", "jejunal atresia with microcephaly and ocular anomalies", "jejunal atresia-microcephaly-ocular anomalies syndrome", "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome", "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"], "xref": ["DOID:0110595", "EFO:0009160", "GARD:0017945", "MEDGEN:340938", "MESH:C565460", "OMIM:243605", "OMIM:616369", "Orphanet:444069", "Orphanet:506307", "UMLS:C1855705"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).", "id": "MONDO:0009478", "name": "Combined immunodeficiency due to dock8 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cid due to DOCK8 deficiency", "DOCK8 immunodeficiency syndrome", "combined immunodeficiency due to DOCK8 deficiency", "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency", "dedicator of cytokinesis 8 deficiency"], "xref": ["DOID:0080594", "GARD:0002816", "MEDGEN:1648410", "NCIT:C126343", "OMIM:243700", "Orphanet:217390", "UMLS:C4722305", "icd11.foundation:136043326"]}
{"category": ["biolink:Disease"], "description": "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.", "id": "MONDO:0009479", "name": "Johanson-blizzard syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JBS", "Johanson-Blizzard syndrome", "pancreatic insufficiency, combined exocrine"], "xref": ["DOID:14694", "GARD:0000080", "ICD9:759.89", "MEDGEN:59798", "MESH:C535880", "MESH:C564907", "NORD:1311", "OMIM:243800", "OMIM:260450", "Orphanet:2315", "SCTID:75979009", "UMLS:C0175692", "icd11.foundation:1427330812"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.", "id": "MONDO:0009480", "name": "Joubert syndrome with oculorenal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arima syndrome", "CORS", "Cerebellooculorenal syndrome", "Dekaban-Arima syndrome", "JS type B", "JS-OR", "Joubert syndrome with Senior-Loken syndrome", "Joubert syndrome with oculorenal defect"], "xref": ["GARD:0009455", "MEDGEN:340930", "MESH:C537430", "NANDO:1200662", "OMIM:243910", "Orphanet:2318", "SCTID:721862000", "UMLS:C1855675", "icd11.foundation:397835469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009481", "name": "Jumping frenchmen of maine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Jumping Frenchmen of Maine"], "xref": ["MEDGEN:224824", "OMIM:244100", "UMLS:C1280764"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.", "id": "MONDO:0009482", "name": "Hypogonadotropic hypogonadism 3 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PROKR2 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 3 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in PROKR2"], "xref": ["DOID:0090092", "GARD:0003073", "MEDGEN:763392", "OMIM:244200", "UMLS:C3550478"]}
{"category": ["biolink:Disease"], "description": "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.", "id": "MONDO:0009483", "name": "Kapur-toriello syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome", "kapur-Toriello syndrome"], "xref": ["GARD:0003078", "MEDGEN:208654", "MESH:C537008", "OMIM:244300", "Orphanet:2328", "SCTID:722031003", "UMLS:C0796005"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.", "id": "MONDO:0009484", "name": "Primary ciliary dyskinesia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD1", "DNAI1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 1", "primary ciliary dyskinesia 1", "primary ciliary dyskinesia caused by mutation in DNAI1", "primary ciliary dyskinesia type 1"], "xref": ["DOID:0110594", "GARD:0024674", "MEDGEN:1646059", "NCIT:C128117", "OMIM:244400", "Orphanet:98861", "UMLS:C4551906"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009485", "name": "Oculocerebrofacial syndrome, kaufman type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BPIDS", "blepharophimosis-ptosis-intellectual disability syndrome", "oculocerebrofacial syndrome, Kaufman type"], "xref": ["DOID:0111456", "GARD:0003084", "MEDGEN:343403", "MESH:C537013", "OMIM:244450", "Orphanet:2707", "SCTID:722056009", "UMLS:C1855663"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.", "id": "MONDO:0009486", "name": "Autosomal recessive kenny-caffey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Kenny-Caffey syndrome type 1", "Kenny-Caffey syndrome, autosomal recessive"], "xref": ["DOID:0080722", "GARD:0008367", "MEDGEN:340923", "MESH:C537021", "NCIT:C130992", "OMIM:244460", "Orphanet:93324", "UMLS:C1855648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009487", "name": "Keratoconus and congenital hip dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["keratoconus and congenital hip dysplasia"], "xref": ["MEDGEN:383732", "MESH:C565456", "OMIM:244510", "UMLS:C1855647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009488", "name": "Keratoconus posticus circumscriptus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["keratoconus posticus circumscriptus"], "xref": ["MEDGEN:340922", "MESH:C536151", "OMIM:244600", "UMLS:C1855645"]}
{"category": ["biolink:Disease"], "description": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.", "id": "MONDO:0009489", "name": "Hereditary palmoplantar keratoderma, gamborg-nielsen type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPK, Gamborg-Nielsen type", "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type"], "xref": ["GARD:0016767", "MESH:C565454", "OMIM:244850", "Orphanet:86923", "SCTID:717228004"]}
{"category": ["biolink:Disease"], "description": "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.", "id": "MONDO:0009490", "name": "Papillon-lefevre disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLS", "Papillon Lefèvre Syndrome", "keratosis palmoplantar-periodontopathy syndrome"], "xref": ["DOID:3389", "GARD:0003100", "ICD9:759.89", "MEDGEN:45306", "MESH:D010214", "NCIT:C84992", "NORD:1552", "OMIM:245000", "Orphanet:678", "SCTID:40158001", "UMLS:C0030360"]}
{"category": ["biolink:Disease"], "description": "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.", "id": "MONDO:0009491", "name": "Haim-munk syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Haim-Munk syndrome", "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome", "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome", "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"], "xref": ["GARD:0000044", "MEDGEN:344539", "MESH:C537627", "NORD:1212", "OMIM:245010", "Orphanet:2342", "SCTID:719973009", "UMLS:C1855627"]}
{"category": ["biolink:Disease"], "description": "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.", "id": "MONDO:0009492", "name": "Succinyl-coa:3-ketoacid coa transferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OXCT1 deficiency", "SCOT deficiency", "Succinyl CoA:3-oxoacid CoA transferase deficiency", "succinyl-CoA acetoacetate transferase deficiency", "succinyl-CoA:3-ketoacid CoA transferase deficiency", "succinyl-CoA:3-oxoacid CoA transferase deficiency"], "xref": ["GARD:0004774", "ICD9:270.8", "MEDGEN:137979", "MESH:C537527", "NANDO:2200499", "OMIM:245050", "Orphanet:832", "SCTID:238004006", "UMLS:C0342792"]}
{"category": ["biolink:Disease"], "description": "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.", "id": "MONDO:0009493", "name": "Richards-rundle syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richards-Rundle syndrome", "ketoaciduria-intellectual disability-ataxia-deafness syndrome"], "xref": ["GARD:0008423", "MEDGEN:163219", "MESH:C535674", "OMIM:245100", "Orphanet:1399", "SCTID:715415005", "UMLS:C0796136", "icd11.foundation:114583632"]}
{"category": ["biolink:Disease"], "description": "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.", "id": "MONDO:0009495", "name": "Keutel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Keutel syndrome", "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome"], "xref": ["GARD:0008449", "MEDGEN:383722", "MESH:C536167", "OMIM:245150", "Orphanet:85202", "SCTID:724208006", "UMLS:C1855607", "icd11.foundation:1083151379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009496", "name": "Kniest-like dysplasia with pursed lips and ectopia lentis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Kniest-like dysplasia with pursed lips and ectopia lentis"], "xref": ["MEDGEN:343394", "OMIM:245160", "UMLS:C1855606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009497", "name": "Kifafa seizure disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Kifafa seizure disorder"], "xref": ["MEDGEN:208655", "MESH:C537708", "OMIM:245180", "UMLS:C0796010"]}
{"category": ["biolink:Disease"], "description": "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.", "id": "MONDO:0009498", "name": "Lethal kniest-like dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003124", "MEDGEN:383721", "MESH:C537208", "OMIM:245190", "Orphanet:2347", "UMLS:C1855605"]}
{"category": ["biolink:Disease"], "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.", "id": "MONDO:0009499", "name": "Krabbe disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GALC deficiency", "GALC enzyme deficiency", "Krabbe disease", "Krabbe's leukodystrophy", "Leukodystrophy, Krabbe's", "diffuse globoid body sclerosis", "galactocerebrosidase deficiency", "galactosylceramidase deficiency", "galactosylceramide lipidosis", "globoid cell leukodystrophy", "globoid cell leukoencephalopathy"], "xref": ["DOID:10587", "GARD:0006844", "ICD10CM:E75.23", "MEDGEN:44131", "MESH:D007965", "MedDRA:10023492", "NANDO:1200074", "NANDO:2200564", "NCIT:C61254", "NORD:1368", "OMIM:245200", "Orphanet:487", "SCTID:189979005", "SCTID:192782005", "UMLS:C0023521", "icd11.foundation:796317173"]}
{"category": ["biolink:Disease"], "description": "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.", "id": "MONDO:0009501", "name": "Metabolic myopathy due to lactate transporter defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["erythrocyte lactate transporter defect"], "xref": ["GARD:0017067", "MEDGEN:344529", "MESH:C565449", "OMIM:245340", "Orphanet:171690", "SCTID:766715000", "UMLS:C1855577"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.", "id": "MONDO:0009502", "name": "Pyruvate dehydrogenase e2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency", "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency", "pyruvate dehydrogenase E2 deficiency", "pyruvate dehydrogenase complex component E2 deficiency"], "xref": ["GARD:0016712", "MEDGEN:343386", "MESH:C565448", "OMIM:245348", "Orphanet:79244", "UMLS:C1855565"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.", "id": "MONDO:0009503", "name": "Pyruvate dehydrogenase e3-binding protein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["2-oxoglutarate complex deficiency", "Glycine cleavage system L protein deficiency", "branched chain alpha-ketoacid dehydrogenase complex deficiency", "diaphorase deficiency", "dihydrolipoyl dehydrogenase deficiency", "lacticacidemia due to PDX1 deficiency", "lipoamide dehydrogenase deficiency", "pyruvate dehydrogenase E3-binding protein deficiency", "pyruvate dehydrogenase complex component E3 deficiency", "pyruvate dehydrogenase protein X component deficiency"], "xref": ["GARD:0017237", "MEDGEN:343383", "MESH:C565447", "OMIM:245349", "Orphanet:255182", "UMLS:C1855553"]}
{"category": ["biolink:Disease"], "description": "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.", "id": "MONDO:0009504", "name": "Mitochondrial dna depletion syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SUCLG1 mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome 9", "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1", "mitochondrial DNA depletion syndrome type 9"], "xref": ["DOID:0080128", "GARD:0003163", "MEDGEN:462826", "MESH:C538134", "MESH:C566885", "OMIM:245400", "Orphanet:17", "SCTID:715338007", "UMLS:C3151476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009505", "name": "Lactic aciduria due to d-lactic acid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["D-lactic aciduria with susceptibility to gout", "lactic aciduria due to D-lactic acid"], "xref": ["GARD:0024675", "MEDGEN:1679270", "MESH:C565446", "OMIM:245450", "UMLS:C5193006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009506", "name": "Specific granule deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neutrophil-specific granule deficiency", "recurrent infection due to specific granule deficiency", "specific granule deficiency"], "xref": ["GARD:0010778", "MEDGEN:140766", "MESH:C562873", "OMIMPS:245480", "Orphanet:169142", "SCTID:234587000", "UMLS:C0398593"]}
{"category": ["biolink:Disease"], "description": "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.", "id": "MONDO:0009507", "name": "Lambert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lambert syndrome", "branchial dysplasia-intellectual disability-inguinal hernia syndrome"], "xref": ["GARD:0003169", "MEDGEN:343381", "MESH:C538396", "OMIM:245550", "Orphanet:1296", "SCTID:732961003", "UMLS:C1855551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009508", "name": "Lambotte syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Lambotte syndrome"], "xref": ["GARD:0008470", "MEDGEN:343380", "MESH:C537549", "OMIM:245552", "UMLS:C1855550"]}
{"category": ["biolink:Disease"], "description": "A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia.", "id": "MONDO:0009509", "name": "Landau-kleffner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LKS", "Landau-Kleffner syndrome", "acquired epileptic aphasia"], "xref": ["DOID:2538", "EFO:1001010", "GARD:0006855", "MEDGEN:79465", "MESH:D018887", "MedDRA:10052075", "MedDRA:10052083", "NANDO:1200602", "NCIT:C84806", "Orphanet:98818", "SCTID:230438007", "UMLS:C0282512", "icd11.foundation:348544271"]}
{"category": ["biolink:Disease"], "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.", "id": "MONDO:0009511", "name": "Larsen-like syndrome, b3gat3 type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"], "xref": ["DOID:0080575", "GARD:0017308", "MEDGEN:480034", "MESH:C537874", "OMIM:245600", "Orphanet:284139", "UMLS:C3278404"]}
{"category": ["biolink:Disease"], "description": "Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.", "id": "MONDO:0009512", "name": "Lethal larsen-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003181", "MEDGEN:343375", "MESH:C537872", "OMIM:245650", "Orphanet:2371", "SCTID:719409004", "UMLS:C1855535", "icd11.foundation:1014532279"]}
{"category": ["biolink:Disease"], "description": "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.", "id": "MONDO:0009513", "name": "Laryngo-onycho-cutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LOC syndrome", "Shabbir syndrome", "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome", "laryngo-onycho-cutaneous syndrome", "logic syndrome"], "xref": ["GARD:0000368", "MEDGEN:272227", "MESH:C537032", "OMIM:245660", "Orphanet:2407", "SCTID:722675000", "UMLS:C1328355"]}
{"category": ["biolink:Disease"], "description": "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.", "id": "MONDO:0009514", "name": "Laurence-moon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMS", "Laurence-Moon syndrome"], "xref": ["DOID:1930", "GARD:0012635", "ICD9:253.4", "MEDGEN:44078", "MESH:D007849", "MedDRA:10056710", "NCIT:C34760", "NORD:1932", "OMIM:245800", "Orphanet:2377", "SCTID:232059000", "UMLS:C0023138", "icd11.foundation:458834940"]}
{"category": ["biolink:Disease"], "description": "A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.", "id": "MONDO:0009515", "name": "Norum disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FLD", "Norum disease", "complete LCAT deficiency", "lecithin acyltransferase deficiency", "lecithin:cholesterol acyltransferase deficiency"], "xref": ["DOID:1391", "GARD:0004011", "MEDGEN:9698", "NANDO:1200852", "NCIT:C84813", "OMIM:245900", "Orphanet:79293", "SCTID:238091006", "UMLS:C0023195", "icd11.foundation:1848131619"]}
{"category": ["biolink:Disease"], "description": "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.", "id": "MONDO:0009516", "name": "Absence deformity of leg-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016593", "MEDGEN:343374", "MESH:C565442", "OMIM:246000", "Orphanet:2310", "UMLS:C1855523"]}
{"category": ["biolink:Disease"], "description": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.", "id": "MONDO:0009517", "name": "Donohue syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Donohue syndrome", "Leprechaunism", "leprechaunism"], "xref": ["DOID:0050470", "GARD:0006885", "ICD9:259.8", "MEDGEN:82708", "MESH:D056731", "NCIT:C84676", "NORD:1361", "OMIM:246200", "Orphanet:508", "SCTID:111307005", "UMLS:C0265344"]}
{"category": ["biolink:Disease"], "description": "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.", "id": "MONDO:0009519", "name": "Letterer-siwe disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["acute and disseminated Langerhans cell histiocytosis", "acute disseminated Langerhans cell histiocytosis", "letterer-Siwe disease", "multifocal multisystem Langerhans cell histiocytosis"], "xref": ["GARD:0024676", "ICD10CM:C96.0", "ICDO:9754/3", "MEDGEN:7311", "MedDRA:10024265", "NCIT:C3160", "OMIM:246400", "Orphanet:99870", "UMLS:C0023381", "icd11.foundation:1827474596"]}
{"category": ["biolink:Disease"], "description": "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.", "id": "MONDO:0009520", "name": "3-hydroxy-3-methylglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-OH 3-Methyl glutaric aciduria", "3-hydroxy-3-methylglutaric aciduria", "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "HMG-CoA lyase deficiency", "Hydroxymethylglutaric aciduria", "deficiency of hydroxymethylglutaryl-CoA lyase", "hydroxymethylglutaryl-CoA lyase deficiency"], "xref": ["DOID:0070541", "GARD:0008387", "MEDGEN:735832", "MESH:C538324", "NANDO:2200497", "NANDO:2201119", "NCIT:C84523", "OMIM:246450", "Orphanet:20", "SCTID:410059004", "UMLS:C1533587", "icd11.foundation:795785192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009521", "name": "Leukemia, acute myelocytic, with polyposis coli and colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leukemia, acute myelocytic, with polyposis coli and colon cancer"], "xref": ["MEDGEN:383699", "MESH:C565441", "OMIM:246470", "UMLS:C1855505"]}
{"category": ["biolink:Disease"], "description": "A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.", "id": "MONDO:0009522", "name": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Berlin syndrome", "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis", "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis", "ectodermal dysplasia, Berlin type"], "xref": ["GARD:0002044", "MEDGEN:383698", "MESH:C565440", "OMIM:246500", "Orphanet:1816", "SCTID:239032007", "UMLS:C1855504"]}
{"category": ["biolink:Disease"], "description": "Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.", "id": "MONDO:0009523", "name": "Lichtenstein syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Lichtenstein syndrome"], "xref": ["GARD:0003248", "MEDGEN:340889", "MESH:C535894", "OMIM:246550", "Orphanet:2390", "SCTID:763668009", "UMLS:C1855502"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).", "id": "MONDO:0009524", "name": "Intellectual disability-spasticity-ectrodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jancar syndrome"], "xref": ["GARD:0003523", "MEDGEN:340888", "MESH:C537446", "OMIM:246555", "Orphanet:1891", "SCTID:763743003", "UMLS:C1855501"]}
{"category": ["biolink:Disease"], "description": "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.", "id": "MONDO:0009525", "name": "Split hand-foot malformation 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["10q24 microduplication syndrome", "Buttiens-Fryns syndrome", "SHFM3", "chromosome 10q24 duplication syndrome", "split hand-foot malformation 3", "split hand-foot malformation type 3", "split-hand/foot malformation 3, gene duplication syndrome", "split-hand/foot malformation type 3"], "xref": ["DOID:0090025", "GARD:0003252", "MEDGEN:325070", "MESH:C565437", "NCIT:C75121", "OMIM:246560", "Orphanet:1307", "SCTID:722429003", "UMLS:C1838652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009526", "name": "Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["FATCO syndrome", "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "fibular aplasia-tibial campomelia-oligosyndactyly syndrome", "terminal transverse defects of the limbs associated with congenital heart malformations"], "xref": ["GARD:0002622", "MEDGEN:340887", "MESH:C565436", "OMIM:246570", "Orphanet:480773", "UMLS:C1855499"]}
{"category": ["biolink:Disease"], "description": "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.", "id": "MONDO:0009527", "name": "Lipase deficiency, combined", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["combined lipase deficiency", "familial lipase maturation factor 1 deficiency", "lipase deficiency, combined"], "xref": ["DOID:0111422", "GARD:0010244", "MEDGEN:340886", "MESH:C535904", "NCIT:C126558", "OMIM:246650", "Orphanet:535453", "UMLS:C1855498"]}
{"category": ["biolink:Disease"], "description": "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.", "id": "MONDO:0009528", "name": "Chylomicron retention disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Anderson disease", "CMRD", "CRD", "chylomicron retention disease"], "xref": ["DOID:0060357", "GARD:0009683", "MEDGEN:208651", "MESH:C535460", "OMIM:246700", "Orphanet:71", "SCTID:702364003", "UMLS:C0795956", "icd11.foundation:1447416932"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.", "id": "MONDO:0009529", "name": "Pyruvate dehydrogenase e3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DLD deficiency", "E3-deficient maple syrup urine disease", "dihydrolipoamide dehydrogenase deficiency", "pyruvate dehydrogenase E3 deficiency"], "xref": ["DOID:0061204", "GARD:0003263", "MEDGEN:1805500", "OMIM:246900", "Orphanet:2394", "SCTID:29914000", "UMLS:C5574660"]}
{"category": ["biolink:Disease"], "description": "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.", "id": "MONDO:0009530", "name": "Lipoid proteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Urbach-Wiethe disease", "hyalinosis cutis et mucosae", "lipid proteinosis", "lipoid proteinosis", "lipoproteinosis"], "xref": ["DOID:14498", "GARD:0003268", "ICD9:272.8", "MEDGEN:6112", "MESH:D008065", "NANDO:2200608", "NCIT:C84829", "OMIM:247100", "Orphanet:530", "SCTID:38692000", "UMLS:C0023795", "icd11.foundation:326368380"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.", "id": "MONDO:0009532", "name": "Miller-dieker lissencephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Miller-Dieker lissencephaly syndrome", "Miller-Dieker syndrome", "lissencephaly due to 17p13.3 deletion", "monosomy 17p13.3", "telomeric deletion 17p"], "xref": ["DECIPHER:21", "DOID:0060469", "GARD:0003669", "ICD9:758.33", "MEDGEN:78538", "MedDRA:10068361", "NANDO:1201083", "NCIT:C124852", "OMIM:247200", "Orphanet:531", "SCTID:253148005", "UMLS:C0265219"]}
{"category": ["biolink:Disease"], "description": "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.", "id": "MONDO:0009533", "name": "Dahlberg-borer-newcomer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dahlberg syndrome", "lymphedema-hypoparathyroidism syndrome"], "xref": ["GARD:0000237", "MEDGEN:383693", "MESH:C535769", "OMIM:247410", "Orphanet:1563", "SCTID:721083007", "UMLS:C1855477", "icd11.foundation:1407652122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009534", "name": "Chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoblastic transformation, inhibition of"], "xref": ["GARD:0024677", "MEDGEN:344504", "MESH:C565433", "OMIM:247430", "UMLS:C1855476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009536", "name": "Chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoblastic transformation, intrinsic defect type 1N"], "xref": ["GARD:0024678", "MEDGEN:340881", "MESH:C565431", "OMIM:247450", "UMLS:C1855474"]}
{"category": ["biolink:Disease"], "description": "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.", "id": "MONDO:0009537", "name": "Lymphoid interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diffuse hyperplasia of bronchus-associated lymphoid tissue", "lymphocytic interst. pneumonitis", "lymphocytic interstitial pneumonia", "lymphocytic interstitial pneumonitis", "lymphoid interstitial pneumonia"], "xref": ["DOID:0050159", "GARD:0016700", "ICD10CM:J84.2", "ICD9:516.8", "MEDGEN:82682", "MESH:C562489", "MedDRA:10062997", "NANDO:1200424", "NCIT:C27558", "OMIM:247610", "Orphanet:79128", "SCTID:44274007", "UMLS:C0264511", "icd11.foundation:1140418798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009538", "name": "Lymphoid system deterioration, progressive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphoid system deterioration, progressive"], "xref": ["MEDGEN:340880", "MESH:C565430", "OMIM:247630", "UMLS:C1855473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009539", "name": "Lymphoblastic leukemia, acute, with lymphomatous features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leukemia, acute lymphoblastic", "lymphoblastic leukemia, acute, with lymphomatous features"], "xref": ["GARD:0024679", "MEDGEN:340879", "MESH:C565429", "OMIM:247640", "UMLS:C1855472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009540", "name": "Chronic mucocutaneous candidiasis due to lymphokine deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphokine deficiency"], "xref": ["GARD:0015194", "MEDGEN:340878", "MESH:C565428", "OMIM:247650", "UMLS:C1855471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009541", "name": "Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis"], "xref": ["MEDGEN:340877", "MESH:C565427", "OMIM:247800", "UMLS:C1855470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009542", "name": "Lysine malabsorption syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lysine malabsorption syndrome"], "xref": ["MEDGEN:167097", "MESH:C563080", "OMIM:247950", "UMLS:C0796023"]}
{"category": ["biolink:Disease"], "description": "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.", "id": "MONDO:0009543", "name": "Prominent glabella-microcephaly-hypogenitalism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MacDermot-Winter syndrome"], "xref": ["GARD:0000144", "MEDGEN:162900", "MESH:C537714", "OMIM:247990", "Orphanet:2083", "UMLS:C0796024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009544", "name": "Macrocephaly/megalencephaly syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["macrocephaly/megalencephaly syndrome, autosomal recessive"], "xref": ["GARD:0024680", "MEDGEN:812742", "MESH:C537453", "OMIM:248000", "UMLS:C3806412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009545", "name": "Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance"], "xref": ["MEDGEN:419847", "MESH:C537721", "OMIM:248010", "UMLS:C2931597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009546", "name": "Macrosomia adiposa congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macrosomia adiposa congenita"], "xref": ["MEDGEN:340875", "MESH:C565425", "OMIM:248100", "UMLS:C1855468"]}
{"category": ["biolink:Disease"], "description": "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.", "id": "MONDO:0009547", "name": "Macrosomia-microphthalmia-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Teebi-Al Saleh-Hassoon syndrome"], "xref": ["GARD:0000177", "MEDGEN:340874", "MESH:C537830", "OMIM:248110", "Orphanet:2432", "UMLS:C1855467"]}
{"category": ["biolink:Disease"], "description": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.", "id": "MONDO:0009548", "name": "Renal hypomagnesemia 5 with ocular involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FHHNC with severe ocular involvement", "FHHNCOI", "Meier-Blumberg-Imahorn syndrome", "hypercalciuria-bilateral macular coloboma syndrome"], "xref": ["DOID:0060881", "GARD:0003451", "MEDGEN:1648449", "MESH:C536148", "OMIM:248190", "Orphanet:2196", "UMLS:C4721891"]}
{"category": ["biolink:Disease"], "description": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.", "id": "MONDO:0009549", "name": "Severe early-childhood-onset retinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EOSRD", "SECORD", "Stargardt disease type 1", "early-onset severe retinal dystrophy"], "xref": ["DOID:0061241", "GARD:0021565", "MEDGEN:383691", "OMIM:248200", "Orphanet:364055", "SCTID:716663009", "UMLS:C1855465"]}
{"category": ["biolink:Disease"], "description": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.", "id": "MONDO:0009550", "name": "Renal hypomagnesemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CLDN16 familial primary hypomagnesemia", "CLDN16 primary hypomagnesemia", "FHHNC without severe ocular involvement", "HOMG3", "familial primary hypomagnesemia caused by mutation in CLDN16", "primary hypomagnesemia caused by mutation in CLDN16", "renal hypomagnesemia type 3"], "xref": ["DOID:0060880", "GARD:0002906", "MEDGEN:120640", "MESH:C537153", "OMIM:248250", "Orphanet:31043", "SCTID:725033008", "UMLS:C0268448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009551", "name": "Magnesium, elevated red cell", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["magnesium, elevated red cell"], "xref": ["MEDGEN:343360", "OMIM:248260", "UMLS:C1855464"]}
{"category": ["biolink:Disease"], "description": "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.", "id": "MONDO:0009552", "name": "Mal de meleda", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meleda Disease", "Meleda disease", "keratosis palmoplantaris transgrediens of Siemens", "mal de Meleda"], "xref": ["DOID:0060862", "GARD:0000092", "ICD9:757.39", "MEDGEN:7522", "NORD:1428", "OMIM:248300", "Orphanet:87503", "SCTID:239069005", "UMLS:C0025221", "icd11.foundation:1850911834"]}
{"category": ["biolink:Disease"], "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.", "id": "MONDO:0009554", "name": "3mc syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["3MC syndrome 3", "3MC syndrome caused by mutation in COLEC10", "3MC syndrome type 3", "3Mc syndrome type 3", "COLEC10 3MC syndrome"], "xref": ["DOID:0060577", "GARD:0008531", "MEDGEN:208657", "MESH:C535704", "OMIM:248340", "Orphanet:2453", "UMLS:C0796032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009555", "name": "Malocclusion and short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malocclusion and short stature"], "xref": ["MEDGEN:343357", "MESH:C565421", "OMIM:248350", "UMLS:C1855453"]}
{"category": ["biolink:Disease"], "description": "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).", "id": "MONDO:0009556", "name": "Malonic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["malonic aciduria", "malonyl-CoA decarboxylase deficiency"], "xref": ["GARD:0003371", "MEDGEN:91001", "MESH:C535702", "OMIM:248360", "Orphanet:943", "SCTID:361203007", "UMLS:C0342793", "icd11.foundation:1373430210"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.", "id": "MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mandibuloacral dysplasia with type A lipodystrophy"], "xref": ["DOID:0081128", "GARD:0003374", "MEDGEN:1757618", "MESH:C535705", "NCIT:C123417", "OMIM:248370", "Orphanet:90153", "SCTID:109419009", "UMLS:C5399785", "icd11.foundation:1756335062"]}
{"category": ["biolink:Disease"], "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.", "id": "MONDO:0009558", "name": "Treacher collins syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POLR1C Treacher-Collins syndrome", "Treacher Collins syndrome 3", "Treacher Collins syndrome type 3", "Treacher-Collins syndrome caused by mutation in POLR1C"], "xref": ["DOID:0080791", "GARD:0009125", "MEDGEN:340868", "MESH:C535707", "OMIM:248390", "UMLS:C1855433"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009559", "name": "Mandibulofacial dysostosis with mental deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mandibulofacial dysostosis with mental deficiency"], "xref": ["MEDGEN:1632207", "MESH:C565420", "OMIM:248400", "UMLS:C4692584"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009560", "name": "Oculotrichoanal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOTA syndrome", "Manitoba oculotrichoanal syndrome", "Marles syndrome", "Marles-Greenberg-Persaud syndrome"], "xref": ["GARD:0003395", "ICD9:759.89", "MEDGEN:383680", "MESH:C536022", "OMIM:248450", "Orphanet:2717", "SCTID:703539006", "UMLS:C1855425"]}
{"category": ["biolink:Disease"], "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.", "id": "MONDO:0009561", "name": "Alpha-mannosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alpha-mannosidosis", "lysosomal alpha-D-mannosidase deficiency", "mannosidosis, alpha-, types I and II"], "xref": ["DOID:3413", "GARD:0006968", "ICD9:271.8", "MEDGEN:7467", "MESH:D008363", "NANDO:1200126", "NCIT:C84548", "NORD:755", "OMIM:248500", "Orphanet:61", "SCTID:65524005", "UMLS:C0024748", "icd11.foundation:1944256516"]}
{"category": ["biolink:Disease"], "description": "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.", "id": "MONDO:0009562", "name": "Beta-mannosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beta-mannosidase deficiency", "beta-mannosidase deficiency", "beta-mannosidosis", "lysosomal beta-mannosidase deficiency", "mannosidosis, beta"], "xref": ["DOID:3633", "GARD:0000869", "ICD9:271.8", "MEDGEN:888408", "MESH:D044905", "NANDO:1200129", "NANDO:2201190", "NCIT:C84596", "OMIM:248510", "Orphanet:118", "SCTID:238047006", "UMLS:C4048196", "icd11.foundation:1578707401"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.", "id": "MONDO:0009563", "name": "Maple syrup urine disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["BCKD deficiency", "BCKDH deficiency", "Ketoacidaemia", "MSUD", "branched chain ketoaciduria", "branched-chain 2-ketoacid dehydrogenase deficiency", "branched-chain ketoaciduria", "maple syrup urine disease"], "xref": ["DOID:9269", "GARD:0003228", "ICD10CM:E71.0", "MEDGEN:6217", "MESH:D008375", "MedDRA:10026817", "NANDO:1200791", "NANDO:2200473", "NCIT:C34806", "NORD:1400", "OMIMPS:248600", "Orphanet:511", "SCTID:27718001", "UMLS:C0024776", "icd11.foundation:1623706568"]}
{"category": ["biolink:Disease"], "description": "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.", "id": "MONDO:0009564", "name": "Marden-walker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marden Walker Syndrome", "Marden-Walker syndrome"], "xref": ["GARD:0006973", "ICD9:759.89", "MEDGEN:163206", "MESH:C535910", "NORD:1402", "OMIM:248700", "Orphanet:2461", "SCTID:449824004", "UMLS:C0796033", "icd11.foundation:1983460876"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.", "id": "MONDO:0009565", "name": "Microcephaly-glomerulonephritis-marfanoid habitus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003615", "MEDGEN:343327", "MESH:C565411", "OMIM:248760", "Orphanet:2172", "UMLS:C1855348"]}
{"category": ["biolink:Disease"], "description": "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.", "id": "MONDO:0009566", "name": "Marfanoid habitus-autosomal recessive intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003388", "MEDGEN:343326", "MESH:C565410", "OMIM:248770", "Orphanet:2463", "UMLS:C1855347"]}
{"category": ["biolink:Disease"], "description": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.", "id": "MONDO:0009567", "name": "Marinesco-sjogren syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marinesco-Sjogren syndrome", "Marshall Smith Syndrome"], "xref": ["DOID:0080195", "GARD:0008341", "ICD9:742.4", "MEDGEN:6222", "NANDO:1200485", "NORD:1406", "OMIM:248800", "Orphanet:559", "SCTID:80734006", "UMLS:C0024814"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.", "id": "MONDO:0009568", "name": "Mast syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mast syndrome", "SPG21", "autosomal recessive spastic paraplegia type 21", "mast syndrome"], "xref": ["DOID:0060245", "GARD:0016939", "MEDGEN:343325", "MESH:C565409", "OMIM:248900", "Orphanet:101001", "SCTID:764734003", "UMLS:C1855346"]}
{"category": ["biolink:Disease"], "description": "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.", "id": "MONDO:0009569", "name": "Hennekam-beemer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mastocytosis-short stature-hearing loss syndrome"], "xref": ["GARD:0003409", "ICD10CM:Q82.2", "MEDGEN:462843", "MESH:C536033", "OMIM:248910", "Orphanet:2135", "SCTID:722453009", "UMLS:C3151493"]}
{"category": ["biolink:Disease"], "description": "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.", "id": "MONDO:0009570", "name": "Mcdonough syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McDonough syndrome"], "xref": ["GARD:0003424", "MEDGEN:162902", "MESH:C538158", "OMIM:248950", "Orphanet:2471", "SCTID:715441004", "UMLS:C0796038", "icd11.foundation:1349711155"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.", "id": "MONDO:0009571", "name": "Meckel syndrome, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MKS1", "MKS1 Meckel syndrome", "Meckel syndrome caused by mutation in MKS1", "Meckel syndrome, type 1", "Meckel-Gruber syndrome, type 1"], "xref": ["DOID:0070115", "GARD:0024681", "MEDGEN:811346", "MESH:C536133", "OMIM:249000", "UMLS:C3714506"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of familial Mediterranean fever.", "id": "MONDO:0009572", "name": "Autosomal recessive familial mediterranean fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive familial Mediterranean fever", "familial Mediterranean fever, AR", "familial Mediterranean fever, autosomal recessive"], "xref": ["GARD:0024682", "NANDO:1200864", "OMIM:249100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009573", "name": "Megaepiphyseal dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["megaepiphyseal dwarfism"], "xref": ["MEDGEN:383654", "MESH:C536140", "OMIM:249230", "UMLS:C1855310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009574", "name": "Megalencephaly with dysmyelination", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["megalencephaly with dysmyelination"], "xref": ["MEDGEN:344470", "MESH:C565408", "OMIM:249240", "UMLS:C1855309"]}
{"category": ["biolink:Disease"], "description": "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.", "id": "MONDO:0009575", "name": "Thiamine-responsive megaloblastic anemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rogers syndrome", "THMD1", "TRMA", "thiamine metabolism dysfunction syndrome 1", "thiamine-responsive anemia syndrome", "thiamine-responsive megaloblastic anemia syndrome", "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness", "thiamine-responsive myelodysplasia"], "xref": ["DOID:0090117", "GARD:0009210", "MEDGEN:83338", "MESH:C536510", "OMIM:249270", "Orphanet:49827", "SCTID:237617006", "UMLS:C0342287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009576", "name": "Megalocornea", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["megalocornea", "megalocornea (disease)"], "xref": ["DOID:0060305", "HP:0000485", "HP:0007660", "MEDGEN:1807965", "MESH:C562829", "OMIM:249300", "SCTID:268158009", "UMLS:C5574682", "icd11.foundation:58849242"]}
{"category": ["biolink:Disease"], "description": "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.", "id": "MONDO:0009577", "name": "Megalocornea-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMR syndrome", "Megalocornea Intellectual Disability Syndrome", "NeuhC$user syndrome", "Neuhäuser syndrome", "megalocornea-intellectual disability syndrome"], "xref": ["GARD:0003448", "MEDGEN:162904", "MESH:C536143", "NORD:1424", "OMIM:249310", "Orphanet:2479", "SCTID:733522005", "UMLS:C0796086"]}
{"category": ["biolink:Disease"], "description": "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.", "id": "MONDO:0009578", "name": "Neurocutaneous melanocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NCM", "neurocutaneous melanosis", "neurocutaneous melanosis, somatic"], "xref": ["GARD:0007186", "MEDGEN:154259", "MESH:C537387", "NANDO:2200827", "NCIT:C175215", "OMIM:249400", "Orphanet:2481", "UMLS:C0544862", "icd11.foundation:403221860"]}
{"category": ["biolink:Disease"], "description": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.", "id": "MONDO:0009579", "name": "Frank-ter haar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Borrone Dermatocardioskeletal syndrome", "Borrone di Rocco Crovato syndrome", "Frank-Ter Haar syndrome", "Ter Haar syndrome"], "xref": ["DOID:0111789", "GARD:0005138", "MEDGEN:383652", "MESH:C536577", "MESH:C537274", "OMIM:211170", "OMIM:249420", "Orphanet:137834", "SCTID:720958002", "UMLS:C1855305", "icd11.foundation:1643548765"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.", "id": "MONDO:0009580", "name": "Intellectual disability, autosomal recessive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRSS12 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12", "intellectual disability, autosomal recessive 1", "intellectual disability, autosomal recessive type 1", "mental retardation, autosomal recessive type 1"], "xref": ["DOID:0081177", "GARD:0022537", "MEDGEN:344468", "MESH:C565406", "OMIM:249500", "UMLS:C1855304"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.", "id": "MONDO:0009581", "name": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009811", "MEDGEN:343317", "MESH:C537447", "OMIM:249599", "Orphanet:3044", "SCTID:722454003", "UMLS:C1855303"]}
{"category": ["biolink:Disease"], "description": "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.", "id": "MONDO:0009582", "name": "Mietens syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, Mietens-Weber type"], "xref": ["DOID:0061196", "GARD:0003524", "ICD9:759.89", "MEDGEN:82695", "MESH:C537444", "OMIM:249600", "Orphanet:2557", "SCTID:40291001", "UMLS:C0265249", "icd11.foundation:1399358623"]}
{"category": ["biolink:Disease"], "description": "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.", "id": "MONDO:0009583", "name": "Blepharophimosis - intellectual disability syndrome, ohdo type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMRS, Ohdo type", "Ohdo syndrome", "Ohdo-Madokoro-Sonoda syndrome", "blepharophimosis syndrome, Ohdo type"], "xref": ["GARD:0003348", "ICD9:374.89", "ICD9:525.8", "MEDGEN:162905", "OMIM:249620", "Orphanet:2728", "SCTID:412787009", "UMLS:C0796094"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.", "id": "MONDO:0009584", "name": "Intellectual disability, buenos-aires type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mutchinick syndrome"], "xref": ["GARD:0003485", "MEDGEN:167102", "MESH:C563095", "OMIM:249630", "Orphanet:3079", "SCTID:725906006", "UMLS:C0796080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009585", "name": "Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-mercaptopyruvate sulfurtransferase deficiency", "Ampola syndrome"], "xref": ["GARD:0000654", "MEDGEN:208661", "MESH:C563085", "OMIM:249650", "Orphanet:1035", "UMLS:C0796055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009587", "name": "Mesoaxial hexadactyly and cardiac malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesoaxial hexadactyly and cardiac malformation"], "xref": ["MEDGEN:167099", "MESH:C563087", "OMIM:249670", "UMLS:C0796057"]}
{"category": ["biolink:Disease"], "description": "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.", "id": "MONDO:0009588", "name": "Langer mesomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Langer mesomelic dysplasia", "Langer syndrome", "Langer type mesomelic dysplasia", "langer mesomelic dysplasia, pseudoautosomal recessive", "mesomelic dwarfism, Langer type"], "xref": ["GARD:0003553", "ICD9:756.59", "MEDGEN:96585", "MESH:C537267", "NCIT:C126876", "OMIM:249700", "Orphanet:2632", "SCTID:38494008", "UMLS:C0432230"]}
{"category": ["biolink:Disease"], "description": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.", "id": "MONDO:0009589", "name": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reardon-Hall-Slaney syndrome", "mesomelic dysplasia, Kozlowski-Reardon type", "mesomelic dysplasia, Reardon type"], "xref": ["GARD:0003552", "MEDGEN:340833", "MESH:C565404", "OMIM:249710", "Orphanet:2631", "SCTID:715471007", "UMLS:C1855273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009590", "name": "Metachromatic leukodystrophy due to saposin b deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["metachromatic leukodystrophy due to sap-B deficiency", "metachromatic leukodystrophy due to saposin b deficiency"], "xref": ["GARD:0010674", "MEDGEN:120624", "MESH:C562609", "NANDO:1200082", "NANDO:2201205", "OMIM:249900", "SCTID:1003375005", "SCTID:297278001", "SCTID:68390005", "UMLS:C0268262"]}
{"category": ["biolink:Disease"], "description": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.", "id": "MONDO:0009591", "name": "Metachromatic leukodystrophy, juvenile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MLD, juvenile form", "arylsulfatase A deficiency, juvenile form", "metachromatic leukodystrophy, juvenile form"], "xref": ["GARD:0021329", "MEDGEN:155528", "NANDO:1200080", "NANDO:2201203", "OMIM:250100", "Orphanet:309263", "SCTID:44359008", "UMLS:C0751276"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.", "id": "MONDO:0009592", "name": "Metaphyseal acroscyphodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bellini syndrome", "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome", "metaphyseal acroscyphodysplasia"], "xref": ["GARD:0003519", "MEDGEN:344453", "MESH:C537350", "OMIM:250215", "Orphanet:1240", "UMLS:C1855243", "icd11.foundation:1994645064"]}
{"category": ["biolink:Disease"], "description": "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.", "id": "MONDO:0009593", "name": "Spondylometaphyseal dysplasia, sedaghatian type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia, Sedaghatian type"], "xref": ["DOID:0112298", "GARD:0004993", "MEDGEN:340816", "MESH:C535798", "OMIM:250220", "Orphanet:93317", "UMLS:C1855229", "icd11.foundation:975738106"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0009594", "name": "Metaphyseal chondrodysplasia, kaitila type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["metaphyseal chondrodysplasia, Kaitila type"], "xref": ["GARD:0017018", "MEDGEN:344446", "MESH:C565400", "OMIM:250230", "Orphanet:166038", "UMLS:C1855217"]}
{"category": ["biolink:Disease"], "description": "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.", "id": "MONDO:0009595", "name": "Cartilage-hair hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McKusick Type Metaphyseal Chondrodysplasia", "autosomal recessive metaphyseal chondrodysplasia", "cartilage hair hypoplasia", "cartilage-hair hypoplasia", "metaphyseal chondrodysplasia, McKusick type"], "xref": ["DOID:14773", "GARD:0006996", "MEDGEN:67398", "MESH:C535916", "MedDRA:10069596", "NCIT:C61245", "NORD:1414", "OMIM:250250", "Orphanet:175", "SCTID:7720002", "UMLS:C0220748", "icd11.foundation:469051294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009596", "name": "Metaphyseal chondrodysplasia, pena type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metaphyseal chondrodysplasia, Pena type"], "xref": ["MEDGEN:343289", "MESH:C565399", "OMIM:250300", "UMLS:C1855195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009597", "name": "Metaphyseal chondrodysplasia, spahr type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["metaphyseal chondrodysplasia, Spahr type"], "xref": ["GARD:0003563", "MEDGEN:140928", "MESH:C537353", "OMIM:250400", "Orphanet:2501", "SCTID:254084008", "UMLS:C0432225", "icd11.foundation:1856002752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009598", "name": "Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017017", "MEDGEN:381579", "MESH:C565398", "OMIM:250410", "Orphanet:166035", "UMLS:C1855188"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.", "id": "MONDO:0009599", "name": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003566", "MEDGEN:344437", "MESH:C565396", "OMIM:250420", "Orphanet:2502", "UMLS:C1855175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009600", "name": "Metaphyseal dysplasia, anetoderma, and optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metaphyseal dysplasia, anetoderma, and optic atrophy"], "xref": ["MEDGEN:381576", "MESH:C565395", "OMIM:250450", "UMLS:C1855174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009601", "name": "Metaphyseal dysplasia without hypotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["metaphyseal dysplasia without hypotrichosis"], "xref": ["GARD:0010622", "MEDGEN:320444", "MESH:C563574", "OMIM:250460", "Orphanet:1838", "UMLS:C1834821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009602", "name": "Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metaphyseal modeling abnormality, skin lesions, and spastic paraplegia"], "xref": ["MEDGEN:343282", "MESH:C535875", "OMIM:250500", "UMLS:C1855164"]}
{"category": ["biolink:Disease"], "description": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.", "id": "MONDO:0009603", "name": "3-hydroxyisobutyryl-coa hydrolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-hydroxyisobutyryl-CoA hydrolase deficiency", "HIBCH deficiency", "methacrylic aciduria", "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"], "xref": ["DOID:0060949", "GARD:0013202", "MEDGEN:83349", "MESH:C562803", "OMIM:250620", "Orphanet:88639", "SCTID:722488009", "UMLS:C0342738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009604", "name": "Methemoglobin reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["methemoglobin reductase deficiency"], "xref": ["GARD:0003909", "MEDGEN:501116", "MESH:C563171", "OMIM:250700", "SCTID:234397008", "UMLS:C0472786"]}
{"category": ["biolink:Disease"], "description": "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.", "id": "MONDO:0009605", "name": "Methemoglobinemia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CYB5A methemoglobinemia", "methemoglobinemia caused by mutation in CYB5A", "methemoglobinemia type 4"], "xref": ["DOID:0112316", "GARD:0015196", "MEDGEN:925090", "MESH:C567102", "OMIM:250790", "UMLS:C4285231"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009606", "name": "Methemoglobinemia due to deficiency of methemoglobin reductase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["methemoglobinemia due to deficiency of methemoglobin reductase", "methemoglobinemia, type I", "methemoglobinemia, type II"], "xref": ["GARD:0015197", "MEDGEN:75661", "OMIM:250800", "UMLS:C0268193"]}
{"category": ["biolink:Disease"], "description": "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.", "id": "MONDO:0009607", "name": "Methionine adenosyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAT I/III deficiency", "MAT deficiency", "brain demyelination due to methionine adenosyltransferase deficiency", "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency", "isolated persistent hypermethioninemia", "methionine adenosyltransferase deficiency", "methionine adenosyltransferase deficiency, autosomal recessive"], "xref": ["GARD:0008397", "MEDGEN:75700", "NCIT:C123435", "OMIM:250850", "Orphanet:168598", "UMLS:C0268621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009608", "name": "Methionine malabsorption syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["methionine malabsorption syndrome"], "xref": ["MEDGEN:78693", "MESH:C562682", "OMIM:250900", "SCTID:45812003", "UMLS:C0268622", "icd11.foundation:1061270147"]}
{"category": ["biolink:Disease"], "description": "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.", "id": "MONDO:0009609", "name": "Methylcobalamin deficiency type cblg", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["functional methionine synthase deficiency type cblG", "methylcobalamin deficiency type cblG"], "xref": ["DOID:0050733", "DOID:0112256", "GARD:0003577", "MEDGEN:344426", "NANDO:2201111", "OMIM:250940", "Orphanet:2170", "SCTID:721187005", "UMLS:C1855128"]}
{"category": ["biolink:Disease"], "description": "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.", "id": "MONDO:0009610", "name": "3-methylglutaconic aciduria type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria caused by mutation in AUH", "3-methylglutaconic aciduria caused by mutation in auh", "3-methylglutaconic aciduria type 1", "3-methylglutaconyl-CoA hydratase deficiency", "3MG-CoA hydratase deficiency", "AUH 3-methylglutaconic aciduria", "MGA1", "auh 3-methylglutaconic aciduria"], "xref": ["DOID:0110002", "GARD:0010321", "MEDGEN:90994", "MESH:C562801", "NANDO:1200990", "NCIT:C98683", "OMIM:250950", "Orphanet:67046", "SCTID:237951008", "UMLS:C0342727", "icd11.foundation:899935975"]}
{"category": ["biolink:Disease"], "description": "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).", "id": "MONDO:0009611", "name": "3-methylglutaconic aciduria type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MGA4", "MGCA4"], "xref": ["DOID:0110006", "GARD:0010342", "MEDGEN:344425", "MESH:C565393", "OMIM:250951", "Orphanet:67048", "SCTID:297233004", "UMLS:C1855126", "icd11.foundation:185382411"]}
{"category": ["biolink:Disease"], "description": "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.", "id": "MONDO:0009612", "name": "Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency", "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", "methylmalonyl-CoA mutase deficiency", "methylmalonyl-Coenzyme A mutase deficiency", "vitamin B12-unresponsive methylmalonic aciduria"], "xref": ["DOID:0060740", "GARD:0003586", "MEDGEN:344424", "MESH:C565390", "NANDO:1200794", "NCIT:C148366", "OMIM:251000", "Orphanet:27", "UMLS:C1855114"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.", "id": "MONDO:0009613", "name": "Methylmalonic aciduria, cbla type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Methylmalonic aciduria, vitamin B12-responsive, cblA type", "cobalamin A disease", "cobalamin B disease", "methylmalonic acidemia cblA type", "methylmalonic acidemia, cblA type", "methylmalonic aciduria cblA type", "methylmalonic aciduria, cblA type", "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type", "vitamin B12-responsive methylmalonic acidemia type cblA", "vitamin B12-responsive methylmalonic aciduria type cblA"], "xref": ["DOID:0060742", "GARD:0005500", "MEDGEN:344422", "NANDO:1200795", "NANDO:2201105", "NCIT:C142171", "OMIM:251100", "Orphanet:79310", "SCTID:73843004", "SCTID:82245003", "UMLS:C1855109"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.", "id": "MONDO:0009614", "name": "Methylmalonic aciduria, cblb type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["methylmalonic acidemia cblB type", "methylmalonic acidemia, cblB type", "methylmalonic aciduria, cblB type", "methylmalonic aciduria, vitamin B12-responsive, cblB type", "vitamin B12-responsive methylmalonic acidemia type cblB", "vitamin B12-responsive methylmalonic aciduria, type cblB"], "xref": ["DOID:0060743", "GARD:0009479", "MEDGEN:344420", "NANDO:1200796", "NANDO:2201106", "NCIT:C142172", "OMIM:251110", "Orphanet:79311", "UMLS:C1855102"]}
{"category": ["biolink:Disease"], "description": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.", "id": "MONDO:0009615", "name": "Methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCEE deficiency", "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency", "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency", "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency"], "xref": ["GARD:0017390", "MEDGEN:344419", "MESH:C565386", "OMIM:251120", "Orphanet:308425", "SCTID:765137006", "UMLS:C1855100"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.", "id": "MONDO:0009616", "name": "Microcephalic primordial dwarfism, toriello type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephalic primordial dwarfism, Toriello type"], "xref": ["GARD:0003602", "MEDGEN:381556", "MESH:C537321", "OMIM:251190", "Orphanet:2643", "SCTID:715482004", "UMLS:C1855089", "icd11.foundation:279033035"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.", "id": "MONDO:0009617", "name": "Microcephaly 1, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCPH1 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in MCPH1", "microcephaly 1, primary, autosomal recessive"], "xref": ["DOID:0070285", "GARD:0015198", "MEDGEN:344415", "MESH:C565384", "OMIM:251200", "Orphanet:52183", "UMLS:C1855081"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.", "id": "MONDO:0009618", "name": "Microcephaly-cardiomyopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Winship-Viljoen-Leary syndrome"], "xref": ["GARD:0003609", "MEDGEN:381554", "MESH:C536711", "OMIM:251220", "Orphanet:2515", "SCTID:719380003", "UMLS:C1855080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009619", "name": "Microcephaly-micromelia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly-micromelia syndrome"], "xref": ["DOID:0081432", "GARD:0018011", "MEDGEN:381553", "MESH:C565382", "OMIM:251230", "Orphanet:572768", "UMLS:C1855079"]}
{"category": ["biolink:Disease"], "description": "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.", "id": "MONDO:0009620", "name": "Say-barber-miller syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly-hypogammaglobulinemia-abnormal immunity syndrome"], "xref": ["GARD:0000239", "MEDGEN:343258", "MESH:C536618", "OMIM:251240", "Orphanet:3132", "SCTID:721903007", "UMLS:C1855078"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.", "id": "MONDO:0009621", "name": "Microcephaly-cervical spine fusion anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003610", "MEDGEN:208663", "MESH:C537325", "OMIM:251250", "Orphanet:2522", "SCTID:715462003", "UMLS:C0796066"]}
{"category": ["biolink:Disease"], "description": "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.", "id": "MONDO:0009622", "name": "Jawad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jawad syndrome"], "xref": ["GARD:0017410", "MEDGEN:810673", "OMIM:251255", "Orphanet:313795", "UMLS:C0796063"]}
{"category": ["biolink:Disease"], "description": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.", "id": "MONDO:0009623", "name": "Nijmegen breakage syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AT V1", "Berlin breakage syndrome", "NBS", "NBs", "Nijmegen breakage syndrome", "Seemanova syndrome", "Seemanova syndrome type 2", "ataxia-telangiectasia, variant 1", "immunodeficiency-microcephaly-chromosomal instability syndrome"], "xref": ["DOID:7400", "GARD:0003904", "MEDGEN:140771", "MESH:D049932", "MedDRA:10067857", "NANDO:1200332", "NANDO:2200706", "NCIT:C4692", "OMIM:251260", "Orphanet:647", "SCTID:234638009", "UMLS:C0398791", "icd11.foundation:1925662580"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.", "id": "MONDO:0009624", "name": "Microcephaly and chorioretinopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pseudotoxoplasmosis syndrome", "TUBGCP6 microcephaly and chorioretinopathy", "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome", "microcephaly and chorioretinopathy 1", "microcephaly and chorioretinopathy caused by mutation in TUBGCP6", "microcephaly and chorioretinopathy type 1", "microcephaly and chorioretinopathy, autosomal recessive, type 1"], "xref": ["DOID:0080105", "GARD:0016603", "MEDGEN:480111", "NCIT:C129306", "OMIM:251270", "Orphanet:2518", "UMLS:C3278481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009625", "name": "Diencephalic-mesencephalic junction dysplasia syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DMJDS1", "microcephaly with spastic quadriplegia"], "xref": ["GARD:0008510", "MEDGEN:1615973", "MESH:C537546", "OMIM:251280", "UMLS:C4538630"]}
{"category": ["biolink:Disease"], "description": "A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.", "id": "MONDO:0009626", "name": "Pseudo-torch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["BLC-PMG", "Baraitser-Brett-Piesowicz syndrome", "Baraitser-Reardon syndrome", "band-like calcification with simplified gyration and polymicrogyria", "bilateral band-like calcification with polymicrogyria", "microcephaly-intracranial calcification-intellectual disability syndrome", "pseudo-TORCH syndrome"], "xref": ["DOID:0050656", "GARD:0012426", "MEDGEN:483678", "OMIMPS:251290", "Orphanet:1229", "SCTID:722390006", "UMLS:C3489725"]}
{"category": ["biolink:Disease"], "description": "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.", "id": "MONDO:0009627", "name": "Galloway-mowat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Galloway syndrome", "Galloway-Mowat syndrome", "microcephaly, hiatal hernia and nephrotic syndrome", "microcephaly-hiatus hernia-nephrotic syndrome", "nephrosis-microcephaly syndrome", "nephrosis-neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5"], "xref": ["DOID:0080694", "GARD:0000065", "MEDGEN:167086", "MESH:C537548", "NANDO:1200713", "NANDO:2200120", "NANDO:2201385", "NCIT:C132195", "NORD:1171", "OMIMPS:251300", "Orphanet:2065", "SCTID:721297008", "UMLS:C0795949"]}
{"category": ["biolink:Disease"], "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.", "id": "MONDO:0009629", "name": "Desbuquois dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CANT1 Desbuquois dysplasia", "Desbuquois dysplasia 1", "Desbuquois dysplasia caused by mutation in CANT1", "Desbuquois dysplasia type 1"], "xref": ["GARD:0016451", "MEDGEN:860583", "OMIM:251450", "UMLS:C4012146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009630", "name": "Microphthalmia, isolated, with coloboma 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microphthalmia, isolated, with coloboma 4", "microphthalmia, isolated, with coloboma type 4"], "xref": ["GARD:0015200", "MEDGEN:344410", "MESH:C565378", "OMIM:251505", "SCTID:715771008", "UMLS:C1855053"]}
{"category": ["biolink:Disease"], "description": "A microphthalmia that has material basis in variation in the chromosomal region 14q32.", "id": "MONDO:0009631", "name": "Isolated microphthalmia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MCOP1", "isolated microphthalmia type 1"], "xref": ["DOID:0060840", "MEDGEN:381546", "MESH:C565377", "OMIM:251600", "UMLS:C1855052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009632", "name": "Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies"], "xref": ["MEDGEN:368490", "MESH:C566884", "OMIM:251700", "UMLS:C1968637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009633", "name": "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"], "xref": ["MEDGEN:761238", "OMIM:251750", "UMLS:C3538951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009634", "name": "Microtia with meatal atresia and conductive deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microtia with meatal atresia and conductive deafness"], "xref": ["MEDGEN:419093", "MESH:C537469", "OMIM:251800", "UMLS:C2931502"]}
{"category": ["biolink:Disease"], "description": "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.", "id": "MONDO:0009635", "name": "Microvillus inclusion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Davidson disease", "MVID", "MYO5B secretory diarrhea", "MYO5B secretory diarrhoea", "congenital familial protracted diarrhea with enterocyte brush-border abnormalities", "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities", "congenital microvillous atrophy", "congenital microvillus atrophy", "diarrhoea 2 with microvillus atrophy", "microvillous inclusion disease", "microvillus inclusion disease", "secretory diarrhea caused by mutation in MYO5B", "secretory diarrhoea caused by mutation in MYO5B"], "xref": ["DOID:0060775", "GARD:0007039", "ICD9:579.8", "MEDGEN:137954", "MedDRA:10068494", "NANDO:2100255", "NANDO:2200913", "NORD:1446", "OMIM:251850", "Orphanet:2290", "SCTID:235729009", "UMLS:C0341306", "icd11.foundation:2137578537"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.", "id": "MONDO:0009636", "name": "Mitochondrial dna depletion syndrome 3 (hepatocerebral type)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DGUOK mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome 3", "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "mitochondrial DNA depletion syndrome caused by mutation in DGUOK", "mitochondrial DNA depletion syndrome type 3"], "xref": ["DOID:0080121", "GARD:0013644", "OMIM:251880", "Orphanet:279934"]}
{"category": ["biolink:Disease"], "description": "Myopathy caused by mitochondrial abnormalities.", "id": "MONDO:0009637", "name": "Inborn mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial myopathy"], "xref": ["DOID:699", "GARD:0020371", "MEDGEN:56484", "MESH:D017240", "MedDRA:10027710", "NCIT:C101328", "Orphanet:206966", "UMLS:C0162670", "icd11.foundation:601991549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009638", "name": "Mitochondrial myopathy with a defect in mitochondrial-protein transport", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mitochondrial myopathy with a defect in mitochondrial-protein transport"], "xref": ["GARD:0024683", "MEDGEN:381541", "MESH:C565376", "OMIM:251945", "UMLS:C1855034"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.", "id": "MONDO:0009642", "name": "Orofaciodigital syndrome type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOHR syndrome", "Mohr syndrome", "OFD2", "oral-facial-digital syndrome type 2"], "xref": ["DOID:0060959", "GARD:0003701", "ICD9:759.89", "MEDGEN:10077", "OMIM:252100", "Orphanet:2751", "SCTID:1779005", "UMLS:C0026363"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009643", "name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MOCOD type A", "MOCODA", "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A", "molybdenum cofactor deficiency A", "molybdenum cofactor deficiency, complementation group type a"], "xref": ["DOID:0111164", "GARD:0017386", "MEDGEN:381530", "MESH:C565372", "OMIM:252150", "Orphanet:308386", "PMID:9731530", "UMLS:C1854988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009644", "name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type b1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MOCOD type B", "MOCODB", "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B", "molybdenum cofactor deficiency B", "molybdenum cofactor deficiency, complementation group type B", "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"], "xref": ["DOID:0111163", "GARD:0017387", "MEDGEN:340760", "MESH:C565373", "OMIM:252160", "Orphanet:308393", "PMID:10053004", "UMLS:C1854989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009645", "name": "Chronic mucocutaneous candidiasis due to monocyte chemotactic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["monocyte chemotactic disorder"], "xref": ["GARD:0015203", "MEDGEN:343238", "MESH:C565371", "OMIM:252250", "UMLS:C1854982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009646", "name": "Monosomy 7 myelodysplasia and leukemia syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["M7MLS1", "chromosome 7Q deletion", "monosomy 7 of bone marrow", "myelodysplasia and leukaemia syndrome with monosomy 7", "myelodysplasia and leukemia syndrome with monosomy 7"], "xref": ["GARD:0018505", "MEDGEN:381529", "MESH:C565370", "NCIT:C176908", "OMIM:252270", "UMLS:C1854978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009647", "name": "Morquio syndrome c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Morquio syndrome C", "Morquio syndrome type C"], "xref": ["GARD:0007059", "MEDGEN:443986", "MESH:C536247", "OMIM:252300", "UMLS:C2931140"]}
{"category": ["biolink:Disease"], "description": "Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.", "id": "MONDO:0009648", "name": "Peripheral motor neuropathy-dysautonomia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Lisker-Garcia-Ramos syndrome"], "xref": ["GARD:0003791", "MEDGEN:381527", "MESH:C536988", "OMIM:252320", "Orphanet:2400", "UMLS:C1854961", "icd11.foundation:1468523039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009649", "name": "Moyamoya disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYMY1"], "xref": ["GARD:0024684", "ICD9:437.5", "MEDGEN:419790", "MESH:C536991", "OMIM:252350", "SCTID:69116000", "UMLS:C2931384"]}
{"category": ["biolink:Disease"], "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.", "id": "MONDO:0009650", "name": "Mucolipidosis type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["I Cell Disease", "I-cell disease", "N-acetylglucosamine 1-phosphotransferase deficiency", "mucolipidosis type II", "mucolipidosis type II alpha/beta"], "xref": ["DOID:0080070", "GARD:0006749", "MEDGEN:435914", "MESH:C538602", "NANDO:1200124", "NANDO:2200567", "NCIT:C61270", "NORD:1279", "OMIM:252500", "Orphanet:576", "SCTID:70199000", "UMLS:C2673377"]}
{"category": ["biolink:Disease"], "description": "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.", "id": "MONDO:0009652", "name": "Gnptg-mucolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GNPTG-mucolipidosis", "ML 3 gamma", "ML III gamma", "mucolipidosis type 3 gamma", "mucolipidosis type III gamma"], "xref": ["DOID:0080678", "GARD:0017705", "MEDGEN:340743", "MESH:C565367", "NCIT:C129978", "OMIM:252605", "Orphanet:423470", "UMLS:C1854896"]}
{"category": ["biolink:Disease"], "description": "A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria.", "id": "MONDO:0009653", "name": "Mucolipidosis type iv", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ML 4", "ML IV", "ML4", "MLIV", "Mucolipidosis IV", "mucolipidosis IV", "mucolipidosis type 4", "mucolipidosis type IV", "sialolipidosis"], "xref": ["DOID:0080490", "GARD:0000094", "GTR:AN1124590", "GTR:AN1125032", "GTR:AN1125033", "GTR:AN1148743", "ICD10CM:E75.11", "MEDGEN:68663", "NCIT:C84896", "NORD:1460", "OMIM:252650", "Orphanet:578", "SCTID:111384001", "SCTID:725296006", "UMLS:C0238286"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.", "id": "MONDO:0009655", "name": "Mucopolysaccharidosis type 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPS III A", "MPS3A", "MPSIIIA", "Sanfilippo A", "Sanfilippo syndrome a", "Sanfilippo syndrome type A", "heparan sulfamidase deficiency", "mucopolysaccharidosis type 3A", "mucopolysaccharidosis type IIIA"], "xref": ["DOID:0111395", "GARD:0007071", "MEDGEN:39264", "NANDO:1200101", "NANDO:2201174", "NCIT:C84897", "OMIM:252900", "Orphanet:79269", "SCTID:41572006", "UMLS:C0086647", "icd11.foundation:182200345"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.", "id": "MONDO:0009656", "name": "Mucopolysaccharidosis type 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPS III B", "MPS3B", "MPSIIIB", "N-acetyl-alpha-glucosaminidase deficiency", "Sanfilippo B", "Sanfilippo syndrome B", "Sanfilippo syndrome type B", "mucopolysaccharidosis type 3B", "mucopolysaccharidosis type IIIB"], "xref": ["DOID:0111394", "GARD:0007072", "MEDGEN:88601", "NANDO:1200102", "NANDO:2201175", "NCIT:C84898", "OMIM:252920", "Orphanet:79270", "SCTID:59990008", "UMLS:C0086648", "icd11.foundation:117303909"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.", "id": "MONDO:0009657", "name": "Mucopolysaccharidosis type 3c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HGSNAT deficiency", "MPS III C", "MPS3C", "MPSIIIC", "Sanfilippo C", "Sanfilippo syndrome type C", "heparan-alpha-glucosaminide N-acetyltransferase deficiency", "mucopolysaccharidosis type 3C", "mucopolysaccharidosis type IIIC"], "xref": ["DOID:0111393", "GARD:0007073", "MEDGEN:39477", "NANDO:1200103", "NANDO:2201176", "NCIT:C84899", "OMIM:252930", "Orphanet:79271", "SCTID:75238000", "UMLS:C0086649", "icd11.foundation:1755913480"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.", "id": "MONDO:0009658", "name": "Mucopolysaccharidosis type 3d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GNS deficiency", "MPS III D", "MPS3D", "MPSIIID", "Sanfilippo D", "Sanfilippo syndrome D", "Sanfilippo syndrome type D", "glucosamine N-acetyl-6-sulfatase deficiency", "mucopolysaccharidosis type 3D", "mucopolysaccharidosis type IIID"], "xref": ["DOID:0111402", "GARD:0007074", "MEDGEN:88602", "NANDO:1200104", "NANDO:2201177", "NCIT:C84900", "OMIM:252940", "Orphanet:79272", "SCTID:15892005", "UMLS:C0086650", "icd11.foundation:1780990193"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.", "id": "MONDO:0009659", "name": "Mucopolysaccharidosis type 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GALNS deficiency", "MPS IV A", "MPS4A", "MPSIVA", "Morquio disease type A", "Morquio syndrome A", "N-acetylgalactosamine-6-sulfate sulfatase deficiency", "galactosamine-6-sulfatase deficiency", "mucopolysaccharidosis type 4A", "mucopolysaccharidosis type IVA"], "xref": ["DOID:0111391", "GARD:0003785", "ICD10CM:E76.210", "MEDGEN:43375", "NANDO:1200106", "NANDO:2201178", "NCIT:C84901", "OMIM:253000", "Orphanet:309297", "SCTID:7259005", "UMLS:C0086651", "icd11.foundation:1919173641"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.", "id": "MONDO:0009660", "name": "Mucopolysaccharidosis type 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Beta-D-galactosidase deficiency", "MPS 4B", "MPS IV B", "MPS4B", "MPSIVB", "Morquio disease type B", "Morquio syndrome B", "mucopolysaccharidosis type IVB"], "xref": ["DOID:0111392", "GARD:0003786", "ICD10CM:E76.211", "MEDGEN:43376", "NANDO:1200107", "NANDO:2201179", "NCIT:C84902", "OMIM:253010", "Orphanet:309310", "SCTID:238044004", "UMLS:C0086652", "icd11.foundation:1479415032"]}
{"category": ["biolink:Disease"], "description": "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.", "id": "MONDO:0009661", "name": "Mucopolysaccharidosis type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARSB deficiency", "ASB deficiency", "MPS6", "MPSVI", "Maroteaux Lamy Syndrome", "Maroteaux-Lamy disease", "Maroteaux-Lamy syndrome", "N-acetylgalactosamine 4-sulfatase deficiency", "arylsulfatase B deficiency", "mucopolysaccharidosis type VI", "mucopolysaccharidosis type VI (Maroteaux-Lamy)"], "xref": ["DOID:12800", "GARD:0007095", "MEDGEN:44514", "MESH:D009087", "MedDRA:10056892", "NANDO:1200108", "NANDO:1200109", "NANDO:1200110", "NANDO:2200551", "NCIT:C61264", "NORD:1405", "OMIM:253200", "Orphanet:583", "SCTID:52677002", "SCTID:69463008", "UMLS:C0026709", "icd11.foundation:1288379621"]}
{"category": ["biolink:Disease"], "description": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.", "id": "MONDO:0009662", "name": "Mucopolysaccharidosis type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beta-glucuronidase deficiency", "MPS7", "MPSVII", "Mucopolysaccharidosis Type VII", "Sly disease", "Sly syndrome", "beta-glucuronidase deficiency", "mucopolysaccharidosis type 7", "mucopolysaccharidosis type VII", "mucopolysaccharidosis, mps-VII"], "xref": ["DOID:12803", "GARD:0007096", "MEDGEN:43108", "MESH:D016538", "MedDRA:10056893", "NANDO:1200111", "NANDO:2200552", "NCIT:C84903", "NORD:1722", "OMIM:253220", "Orphanet:584", "SCTID:43916004", "UMLS:C0085132", "icd11.foundation:1563668250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009663", "name": "Mucus inspissation of respiratory tract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mucus inspissation of respiratory tract"], "xref": ["MEDGEN:340702", "MESH:C565366", "OMIM:253240", "UMLS:C1854729"]}
{"category": ["biolink:Disease"], "description": "A prenatal onset growth disorder with multiorgan manifestations.", "id": "MONDO:0009664", "name": "Mulibrey nanism", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MUL", "Perheentupa syndrome", "mulibrey dwarfism", "mulibrey nanism", "muscle-liver-brain-eye nanism", "pericardial constriction and growth failure", "pericardial constriction-growth failure syndrome"], "xref": ["DOID:0050436", "GARD:0000095", "ICD9:759.89", "MEDGEN:99347", "MESH:D050336", "NCIT:C84906", "NORD:1465", "OMIM:253250", "Orphanet:2576", "SCTID:81604003", "UMLS:C0524582", "icd11.foundation:1167260635"]}
{"category": ["biolink:Disease"], "description": "A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.", "id": "MONDO:0009665", "name": "Biotinidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BTD deficiency", "biotinidase deficiency", "juvenile-onset multiple carboxylase deficiency", "late-onset multiple carboxylase deficiency"], "xref": ["DOID:856", "GARD:0000894", "ICD10CM:D81.810", "ICD9:277.6", "MEDGEN:66323", "MESH:D028921", "MedDRA:10071434", "NANDO:1200822", "NCIT:C84598", "NORD:857", "OMIM:253260", "Orphanet:79241", "SCTID:8808004", "UMLS:C0220754"]}
{"category": ["biolink:Disease"], "description": "A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.", "id": "MONDO:0009666", "name": "Holocarboxylase synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["early-onset multiple carboxylase deficiency", "holocarboxylase synthase deficiency", "holocarboxylase synthetase deficiency", "neonatal multiple carboxylase deficiency"], "xref": ["DOID:859", "GARD:0002721", "ICD9:270.8", "MEDGEN:120653", "MESH:D028922", "NANDO:1200821", "NCIT:C98842", "OMIM:253270", "Orphanet:79242", "SCTID:15307001", "SCTID:360369003", "UMLS:C0268581"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.", "id": "MONDO:0009667", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["muscle-eye-brain-POMGNT1 related", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3"], "xref": ["DOID:0111236", "GARD:0015204", "MEDGEN:462869", "NCIT:C126740", "OMIM:253280", "UMLS:C3151519"]}
{"category": ["biolink:Disease"], "description": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.", "id": "MONDO:0009668", "name": "Lethal multiple pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMPS", "autosomal recessive lethal multiple pterygium syndrome", "lethal multiple pterygium syndrome"], "xref": ["GARD:0003834", "ICD9:759.89", "MEDGEN:381473", "NCIT:C101038", "OMIM:253290", "Orphanet:33108", "SCTID:60192008", "UMLS:C1854678"]}
{"category": ["biolink:Disease"], "description": "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.", "id": "MONDO:0009669", "name": "Werdnig-Hoffmann Disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SMA type 1", "SMA type I", "SMA-I", "SMA1", "SMNI", "Werdnig Hoffmann disease", "Werdnig-Hoffman disease", "Werdnig-Hoffmann Disease", "Werdnig-Hoffmann disease", "severe infantile spinal muscular atrophy", "spinal muscular atrophy-1", "survival motor neuron spinal muscular atrophy"], "xref": ["DOID:13137", "GARD:0007883", "ICD9:335.0", "MEDGEN:1845578", "NANDO:1200004", "NCIT:C98670", "NORD:1844", "OMIM:253300", "Orphanet:83330", "SCTID:64383006", "UMLS:C5848259", "icd11.foundation:915903258"]}
{"category": ["biolink:Disease"], "description": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.", "id": "MONDO:0009670", "name": "Lethal congenital contracture syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GLE1 lethal congenital contracture syndrome", "Herva disease", "LCCS1", "lethal congenital contracture syndrome 1", "lethal congenital contracture syndrome caused by mutation in GLE1", "lethal congenital contracture syndrome type 1", "multiple contracture syndrome, Finnish type"], "xref": ["DOID:0060559", "GARD:0003227", "MEDGEN:344338", "MESH:C537194", "OMIM:253310", "Orphanet:1486", "SCTID:715418007", "UMLS:C1854664"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0009671", "name": "Intellectual disability-myopathy-short stature-endocrine defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chudley-Rozdilsky syndrome"], "xref": ["GARD:0001358", "MEDGEN:381471", "MESH:C535458", "OMIM:253320", "Orphanet:3068", "SCTID:764959000", "UMLS:C1854663"]}
{"category": ["biolink:Disease"], "description": "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.", "id": "MONDO:0009672", "name": "Spinal muscular atrophy, type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Kugelberg Welander Syndrome", "Kugelberg-Welander disease", "SMA type 3", "SMA type III", "SMA-III", "SMA3", "spinal muscular atrophy III", "spinal muscular atrophy type 3", "spinal muscular atrophy, familial", "spinal muscular atrophy, type III", "spinal muscular atrophy, type III, modifier of", "spinal muscular atrophy-3"], "xref": ["DOID:12376", "GARD:0000198", "ICD9:335.11", "MEDGEN:101816", "NANDO:1200006", "NCIT:C118847", "NORD:1342", "OMIM:253400", "Orphanet:83419", "SCTID:54280009", "UMLS:C0152109", "icd11.foundation:677572815"]}
{"category": ["biolink:Disease"], "description": "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.", "id": "MONDO:0009673", "name": "Spinal muscular atrophy, type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Intermediate spinal muscular atrophy", "SMA type 2", "SMA type II", "SMA-II", "SMA2", "chronic infantile spinal muscular atrophy", "chronic spinal muscular atrophy", "muscular atrophy, spinal, infantile chronic form", "muscular atrophy, spinal, intermediate type", "spinal muscular atrophy, type II", "spinal muscular atrophy-2"], "xref": ["DOID:0050530", "GARD:0004945", "ICD9:335.19", "MEDGEN:95975", "MESH:C536879", "NANDO:1200005", "OMIM:253550", "Orphanet:83418", "SCTID:128212001", "UMLS:C0393538", "icd11.foundation:867148636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009674", "name": "Muscular dystrophy, adult-onset, with leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular dystrophy, adult-onset, with leukoencephalopathy"], "xref": ["MEDGEN:340269", "MESH:C565361", "OMIM:253590", "UMLS:C1854646"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.", "id": "MONDO:0009675", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAPN3 autosomal recessive limb-girdle muscular dystrophy", "LGMD2A", "Leyden-Moebius muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3", "autosomal recessive limb-girdle muscular dystrophy type 2A", "calpainopathy", "limb-girdle muscular dystrophy due to calpain deficiency", "limb-girdle muscular dystrophy type 2A", "muscular dystrophy, limb-girdle, autosomal recessive 1", "muscular dystrophy, limb-girdle, type 2A", "primary calpainopathy"], "xref": ["DOID:0110275", "GARD:0001057", "MEDGEN:358391", "MESH:C535895", "NCIT:C142079", "OMIM:253600", "Orphanet:267", "SCTID:715341003", "UMLS:C1869123"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.", "id": "MONDO:0009676", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYSF autosomal recessive limb-girdle muscular dystrophy", "LGMD2B", "LGMD3", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF", "limb-girdle muscular dystrophy due to dysferlin deficiency", "limb-girdle muscular dystrophy type 2B", "muscular dystrophy, limb-girdle, autosomal recessive 2"], "xref": ["DOID:0110276", "GARD:0008574", "MEDGEN:338149", "MESH:C535899", "NCIT:C142080", "OMIM:253601", "Orphanet:268", "SCTID:718179003", "UMLS:C1850889"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.", "id": "MONDO:0009677", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMDA1", "LGMD2C", "Maghrebian myopathy", "SCARMD", "SGCG autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG", "autosomal recessive limb-girdle muscular dystrophy type 2C", "gamma-sarcoglycanopathy", "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 5", "muscular dystrophy, limb-girdle, type 2C"], "xref": ["DOID:0110277", "GARD:0002429", "MEDGEN:98045", "MESH:C535900", "OMIM:253700", "Orphanet:353", "UMLS:C0410173"]}
{"category": ["biolink:Disease"], "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.", "id": "MONDO:0009678", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FCMD", "Fukuyama Type Congenital Muscular Dystrophy", "Fukuyama congenital muscular dystrophy", "MDDGA4", "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "muscle-eye-brain-FKTN related", "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"], "xref": ["DOID:0050559", "GARD:0006475", "MEDGEN:140820", "NANDO:1200494", "NANDO:2200860", "NCIT:C126741", "NORD:1169", "OMIM:253800", "Orphanet:272", "SCTID:111502003", "UMLS:C0410174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009679", "name": "Arthrogryposis due to muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital muscular dystrophy producing arthrogryposis"], "xref": ["DOID:0110631", "GARD:0000779", "MEDGEN:342608", "MESH:C564985", "OMIM:253900", "Orphanet:1155", "UMLS:C1850865"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.", "id": "MONDO:0009680", "name": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bassoe syndrome"], "xref": ["GARD:0000835", "MEDGEN:376896", "OMIM:254000", "Orphanet:1875", "UMLS:C1850864"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009681", "name": "Ullrich congenital muscular dystrophy 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ullrich congenital muscular dystrophy 1"], "xref": ["DOID:0060946", "GARD:0024685", "MEDGEN:98046", "NANDO:1200215", "OMIM:254090", "UMLS:C0410179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009682", "name": "Muscular dystrophy, congenital, with rapid progression", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, congenital, with rapid progression"], "xref": ["DOID:0061202", "GARD:0024686", "MEDGEN:338135", "MESH:C564983", "OMIM:254100", "UMLS:C1850840"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.", "id": "MONDO:0009683", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2h", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2H", "Sarcotubular myopathy", "TRIM32 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32", "autosomal recessive limb-girdle muscular dystrophy type 2H", "limb-girdle muscular dystrophy due to TRIM32 deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 8", "sarcotubular myopathy"], "xref": ["DOID:0110282", "GARD:0003844", "ICD9:359.89", "MEDGEN:78750", "MESH:C535897", "OMIM:254110", "Orphanet:1878", "SCTID:43226001", "UMLS:C0270968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009684", "name": "Muscular hypertonia, lethal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular hypertonia, lethal"], "xref": ["MEDGEN:342600", "MESH:C564982", "OMIM:254120", "UMLS:C1850827"]}
{"category": ["biolink:Disease"], "description": "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.", "id": "MONDO:0009685", "name": "Miyoshi myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["MM", "Miyoshi distal myopathy", "Miyoshi muscular dystrophy"], "xref": ["DOID:0070198", "GARD:0009676", "MEDGEN:1790866", "MESH:C537480", "NANDO:1200217", "NCIT:C118846", "OMIMPS:254130", "Orphanet:45448", "UMLS:C5553104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009686", "name": "Musk, inability to smell", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["musk, inability to smell"], "xref": ["MEDGEN:342594", "MESH:C564980", "OMIM:254150", "UMLS:C1850807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009687", "name": "Myasthenia, congenital, refractory to acetylcholinesterase inhibitors", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myasthenia, congenital, refractory to acetylcholinesterase inhibitors"], "xref": ["GARD:0024687", "MEDGEN:338127", "MESH:C564979", "OMIM:254190", "UMLS:C1850806"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.", "id": "MONDO:0009688", "name": "Myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acquired myasthenia", "autoimmune myasthenia gravis", "myasthenia gravis"], "xref": ["DOID:437", "EFO:0004991", "GARD:0007122", "ICD10CM:G70.0", "ICD9:358.0", "ICD9:358.00", "MEDGEN:7764", "MESH:D009157", "MedDRA:10028417", "NANDO:1200020", "NANDO:2100252", "NANDO:2200906", "NCIT:C60989", "NORD:1478", "OMIM:254200", "Orphanet:589", "SCTID:91637004", "UMLS:C0026896", "icd11.foundation:1270100227"]}
{"category": ["biolink:Disease"], "description": "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.", "id": "MONDO:0009689", "name": "Congenital myasthenic syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHAT congenital myasthenic syndrome", "CMS6", "CMSEA", "FIM", "congenital myasthenic syndrome 6", "congenital myasthenic syndrome caused by mutation in CHAT", "congenital myasthenic syndrome type 6", "presynaptic congenital myasthenic syndrome 6"], "xref": ["DOID:0110671", "GARD:0009689", "ICD9:358.00", "MEDGEN:140751", "MESH:C535759", "NANDO:1201057", "NCIT:C132292", "OMIM:254210", "SCTID:230670003", "UMLS:C0393929"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.", "id": "MONDO:0009690", "name": "Congenital myasthenic syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS10", "DOK7 congenital myasthenic syndrome", "congenital muscular dystrophy merosin-positive", "congenital myasthenic syndrome 10", "congenital myasthenic syndrome caused by mutation in DOK7", "congenital myasthenic syndrome type 10", "myasthenic syndrome, congenital, type 10"], "xref": ["DOID:0110638", "DOID:0110668", "GARD:0015206", "ICD9:358.00", "MEDGEN:376880", "MESH:C563716", "OMIM:254300", "OMIM:609456", "SCTID:230687001", "UMLS:C1850792"]}
{"category": ["biolink:Disease"], "description": "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.", "id": "MONDO:0009691", "name": "Mycosis fungoides", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTCL/ mycosis fungoides", "MF", "cutaneous T-cell lymphoma/mycosis fungoides", "mycosis fungoides", "mycosis fungoides (morphologic abnormality)", "mycosis fungoides NOS (morphologic abnormality)", "mycosis fungoides of unspecified site", "mycosis fungoides, Alibert-Bazin type", "mycosis fungoides, unspecified site, extranodal and solid organ sites"], "xref": ["DOID:8691", "EFO:1001051", "GARD:0003863", "ICD10CM:C84.0", "ICD9:202.1", "ICDO:9700/3", "MEDGEN:7771", "MESH:D009182", "MedDRA:10028483", "NCIT:C3246", "NORD:1479", "OMIM:254400", "ONCOTREE:MYCF", "Orphanet:2584", "SCTID:118618005", "UMLS:C0026948", "icd11.foundation:901411509"]}
{"category": ["biolink:Disease"], "description": "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.", "id": "MONDO:0009692", "name": "Primary myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMM", "Agnogenic myeloid metaplasia", "CIMF", "chronic idiopathic myelofibrosis", "idiopathic bone marrow fibrosis", "idiopathic myelofibrosis", "myelofibrosis with myeloid metaplasia, somatic", "myelofibrosis, somatic", "myelosclerosis with myeloid metaplasia", "osteomyelofibrosis", "primary myelofibrosis"], "xref": ["DOID:4971", "EFO:0002430", "GARD:0008618", "ICD10CM:D47.4", "ICD9:238.76", "ICD9:289.83", "ICDO:9961/3", "MEDGEN:7929", "MESH:D055728", "NCIT:C2862", "NORD:1611", "OMIM:254450", "ONCOTREE:PMF", "Orphanet:824", "UMLS:C0001815", "icd11.foundation:1407285327", "icd11.foundation:336704235"]}
{"category": ["biolink:Disease"], "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)", "id": "MONDO:0009693", "name": "Multiple myeloma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kahler disease", "Kahler's disease", "Multiple Myeloma", "medullary plasmacytoma", "multiple myeloma", "multiple myeloma, resistance to, Somatic mutation", "multiple myeloma, susceptibility to, Somatic mutation", "multiple myeloma/plasma cell myeloma", "myeloid neoplasm of plasma cell", "myeloma", "myeloma, multiple", "myeloma, plasma cell, malignant", "myelomatosis", "plasma cell myeloid neoplasm", "plasma cell myeloma"], "xref": ["DOID:9538", "EFO:0001378", "GARD:0007108", "ICD10CM:C90.0", "ICD9:203.0", "ICDO:9732/3", "MEDGEN:10122", "MESH:D009101", "MedDRA:10028228", "NCIT:C3242", "NORD:1469", "OMIM:254500", "ONCOTREE:PCM", "Orphanet:29073", "UMLS:C0026764", "icd11.foundation:1582389689", "icd11.foundation:526287100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009694", "name": "Myeloperoxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPO deficiency", "myeloperoxidase deficiency"], "xref": ["GARD:0003868", "ICD9:288.8", "MEDGEN:96015", "MESH:C562864", "NANDO:1200358", "NANDO:2200758", "OMIM:254600", "Orphanet:2587", "SCTID:234433009", "UMLS:C0398595", "icd11.foundation:1933575033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009695", "name": "Myeloproliferative disease, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myeloproliferative disease, autosomal recessive"], "xref": ["GARD:0024688", "MEDGEN:338119", "MESH:C564977", "OMIM:254700", "UMLS:C1850779"]}
{"category": ["biolink:Disease"], "description": "The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).", "id": "MONDO:0009696", "name": "Juvenile myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["EJM", "JME", "epilepsy, myoclonic juvenile", "juvenile myoclonus epilepsy", "myoclonic epilepsy, juvenile", "myoclonic epilepsy, juvenile, 1"], "xref": ["DOID:4890", "GARD:0006808", "ICD10CM:G40.B", "ICD9:345.10", "MEDGEN:78738", "MESH:D020190", "MedDRA:10071082", "NCIT:C84796", "OMIM:254770", "OMIM:606904", "OMIMPS:254770", "Orphanet:307", "SCTID:6204001", "UMLS:C0270853", "icd11.foundation:1014397110"]}
{"category": ["biolink:Disease"], "description": "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.", "id": "MONDO:0009697", "name": "Lafora disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPM2", "Lafora disease", "PME type 2", "epilepsy, progressive myoclonic 2A (Lafora)", "epilepsy, progressive myoclonic 2B (Lafora)", "myoclonic epilepsy of Lafora", "progressive myoclonic epilepsy type 2", "progressive myoclonus epilepsy type 2"], "xref": ["DOID:3534", "GARD:0008214", "MEDGEN:155631", "MESH:D020192", "MedDRA:10054030", "NANDO:1200955", "NANDO:2200881", "NCIT:C84804", "NORD:143373", "OMIMPS:254780", "Orphanet:501", "SCTID:230425004", "UMLS:C0751783"]}
{"category": ["biolink:Disease"], "description": "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.", "id": "MONDO:0009698", "name": "Unverricht-lundborg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PME type 1", "ULD", "Unverricht-Lundborg disease", "Unverricht-Lundborg syndrome", "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)", "progressive myoclonic epilepsy type 1", "progressive myoclonus epilepsy type 1"], "xref": ["DOID:0111452", "DOID:3535", "GARD:0003876", "MEDGEN:155923", "MESH:D020194", "MedDRA:10054895", "NANDO:1200954", "NANDO:2200880", "OMIM:254800", "Orphanet:308", "SCTID:230423006", "UMLS:C0751785"]}
{"category": ["biolink:Disease"], "description": "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.", "id": "MONDO:0009699", "name": "Action myoclonus-renal failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMRF", "EPM4", "action myoclonus-renal failure syndrome", "epilepsy, progressive myoclonic 4, with or without renal failure", "epilepsy, progressive myoclonic, 4, with or without renal failure", "myoclonus-nephropathy syndrome", "progressive myoclonic epilepsy type 4"], "xref": ["DOID:0111444", "GARD:0017000", "MEDGEN:155629", "OMIM:254900", "Orphanet:163696", "SCTID:764453009", "UMLS:C0751779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009701", "name": "Myopathy, granulovacuolar lobular, with electrical myotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopathy, granulovacuolar lobular, with electrical myotonia"], "xref": ["MEDGEN:338114", "MESH:C564974", "OMIM:254950", "UMLS:C1850745"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009702", "name": "Myopathy due to malate-aspartate shuttle defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopathy due to malate-aspartate shuttle defect"], "xref": ["MEDGEN:342579", "MESH:C564973", "OMIM:254960", "UMLS:C1850744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009703", "name": "Myopathy with abnormal lipid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["myopathy with abnormal lipid metabolism"], "xref": ["GARD:0024689", "MEDGEN:934789", "MESH:C562935", "OMIM:255100", "SCTID:240095001", "UMLS:C4310822"]}
{"category": ["biolink:Disease"], "description": "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.", "id": "MONDO:0009704", "name": "Carnitine palmitoyl transferase ii deficiency, myopathic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CPT II deficiency, myopathic, stress-induced", "CPT2, adult-onset form", "CPT2, myopathic form", "CPTII, adult-onset form", "CPTII, myopathic form", "Carnitine palmitoyl transferase II deficiency, adult-onset form", "Carnitine palmitoyl transferase deficiency type 2, adult-onset form", "Carnitine palmitoyl transferase deficiency type 2, myopathic form", "carnitine palmitoyl transferase II deficiency, myopathic form"], "xref": ["GARD:0017149", "MEDGEN:371584", "MESH:C563461", "OMIM:255110", "Orphanet:228302", "UMLS:C1833508"]}
{"category": ["biolink:Disease"], "description": "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.", "id": "MONDO:0009705", "name": "Carnitine palmitoyl transferase 1a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPT1A deficiency", "CPT1A disorder of carnitine cycle and carnitine transport", "Carnitine Palmitoyltransferase 1A Deficiency", "Carnitine palmitoyl transferase IA deficiency", "L-CPT1 deficiency", "L-CPTI deficiency", "carnitine palmitoyl transferase 1A deficiency", "carnitine palmitoyl transferase IA deficiency", "carnitine palmitoyltransferase I deficiency", "cpt deficiency, hepatic, type IA", "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A", "hepatic carnitine palmitoyl transferase 1 deficiency", "hepatic carnitine palmitoyl transferase I deficiency"], "xref": ["DOID:0090129", "GARD:0001120", "HGNC:2328", "ICD9:277.85", "MEDGEN:316820", "MESH:C535588", "NANDO:1200970", "NANDO:2200509", "NCIT:C98871", "NORD:894", "OMIM:255120", "Orphanet:156", "SCTID:238001003", "UMLS:C1829703"]}
{"category": ["biolink:Disease"], "description": "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.", "id": "MONDO:0009706", "name": "Hereditary myopathy with lactic acidosis due to iscu deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ISCU myopathy", "aconitase deficiency", "iron-sulfur cluster deficiency myopathy", "myopathy with exercise intolerance, Swedish type"], "xref": ["GARD:0016643", "ICD9:259.8", "MEDGEN:342573", "MESH:C564972", "OMIM:255125", "Orphanet:43115", "SCTID:699268002", "UMLS:C1850718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009707", "name": "Myopathy with giant abnormal mitochondria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopathy with giant abnormal mitochondria"], "xref": ["MEDGEN:376864", "MESH:C564971", "OMIM:255140", "UMLS:C1850717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009708", "name": "Myopathy, myosin storage, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["autosomal recessive myosin storage myopathy", "myopathy, myosin storage, autosomal recessive"], "xref": ["DOID:0111268", "GARD:0015207", "MEDGEN:340603", "MESH:C564970", "OMIM:255160", "Orphanet:636970", "UMLS:C1850709"]}
{"category": ["biolink:Disease"], "description": "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.", "id": "MONDO:0009709", "name": "Myopathy, centronuclear, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["BIN1 centronuclear myopathy", "centronuclear myopathy caused by mutation in BIN1", "myopathy, centronuclear, 2", "myopathy, centronuclear, type 2"], "xref": ["DOID:0111220", "GARD:0015208", "MEDGEN:98049", "MESH:C562934", "OMIM:255200", "UMLS:C0410204"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).", "id": "MONDO:0009710", "name": "Thomsen and becker disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["myotonia congenita"], "xref": ["DOID:2106", "GARD:0012301", "ICD10CM:G71.12", "ICD9:359.22", "MESH:D009224", "MedDRA:10028655", "MedDRA:10043461", "NANDO:1200497", "NANDO:1200498", "NCIT:C84912", "Orphanet:614", "SCTID:726051002"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.", "id": "MONDO:0009711", "name": "Congenital fiber-type disproportion myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CFTDM", "congenital fiber-type disproportion", "congenital myopathy with fiber type disproportion", "congenital myopathy with fibre type disproportion"], "xref": ["DOID:0080102", "GARD:0006161", "MEDGEN:108177", "NANDO:1200483", "NANDO:2200868", "NCIT:C120046", "Orphanet:2020", "UMLS:C0546264"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity.", "id": "MONDO:0009712", "name": "Congenital multicore myopathy with external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["minicore myopathy, antenatal onset, with arthrogryposis"], "xref": ["GARD:0010316", "MEDGEN:340597", "NANDO:2200872", "NCIT:C150608", "OMIM:255320", "Orphanet:98905", "UMLS:C1850674"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009713", "name": "Myopia 18, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP18", "myopia 18, autosomal recessive"], "xref": ["MEDGEN:411856", "MESH:C567606", "OMIM:255500", "UMLS:C2749509"]}
{"category": ["biolink:Disease"], "description": "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.", "id": "MONDO:0009714", "name": "Myosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital myosclerosis, LC6wenthal type", "congenital myosclerosis, Löwenthal type", "myosclerosis, congenital"], "xref": ["GARD:0027790", "MEDGEN:338098", "MESH:C564968", "MedDRA:10064584", "OMIM:255600", "Orphanet:289380", "SCTID:763895001", "UMLS:C1850671", "icd11.foundation:2105106550"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of myotonia congenita.", "id": "MONDO:0009715", "name": "Myotonia congenita, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autosomal recessive myotonia congenita", "myotonia congenita, autosomal recessive", "myotonia congenita, recessive"], "xref": ["GARD:0000844", "MEDGEN:155852", "NANDO:1200499", "OMIM:255700", "UMLS:C0751360"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009716", "name": "Richieri costa-da silva syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["myotonia-intellectual disability-skeletal anomalies syndrome"], "xref": ["GARD:0004709", "MEDGEN:419686", "MESH:C535675", "OMIM:255710", "Orphanet:3101", "UMLS:C2930978"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).", "id": "MONDO:0009717", "name": "Schwartz-jampel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Aberfeld syndrome", "Catel-Hempel syndrome", "Catel-Hempel type dysostosis enchondralis metaepiphysaria", "Osteochondromuscular dystrophy", "SJS", "Schwartz Jampel Syndrome", "Schwartz-Jampel syndrome", "Schwartz-Jampel-Aberfeld syndrome", "burton skeletal dysplasia", "burton syndrome", "dysostosis enchondralis metaepiphysaria, Catel-Hempel type", "myotonic chondrodystrophy", "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies", "osteochondromuscular dystrophy"], "xref": ["GARD:0000250", "ICD10CM:G71.13", "ICD9:759.89", "MEDGEN:19892", "NANDO:1200224", "NANDO:2100235", "NANDO:2200876", "NCIT:C35008", "NORD:1697", "Orphanet:800", "SCTID:29145002", "UMLS:C0036391", "icd11.foundation:1725668060"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.", "id": "MONDO:0009718", "name": "Myxedema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myxedema"], "xref": ["DOID:11634", "EFO:1001055", "MEDGEN:6506", "MESH:D009230", "MedDRA:10028663", "NCIT:C34834", "OMIM:255900", "SCTID:43153006", "UMLS:C0027145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009719", "name": "Familial atrial myxoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000139", "MEDGEN:419902", "MESH:C538262", "OMIM:255960", "Orphanet:615", "SCTID:233855002", "UMLS:C2931787", "icd11.foundation:1491085859"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.", "id": "MONDO:0009720", "name": "Keipert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KPTS", "Keipert syndrome", "Keipert syndrome, X-linked recessive", "nasodigitoacoustic syndrome", "nasodigitoacoustic syndrome, formerly"], "xref": ["DOID:0111842", "GARD:0000267", "MEDGEN:338088", "MESH:C538337", "NCIT:C186306", "OMIM:255980", "OMIM:301026", "Orphanet:2662", "SCTID:763774001", "UMLS:C1850627"]}
{"category": ["biolink:Disease"], "description": "Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.", "id": "MONDO:0009721", "name": "Nathalie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nathalie syndrome", "deafness-cataract-skeletal anomalies syndrome", "deafness-cataracts-skeletal anomalies syndrome", "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"], "xref": ["GARD:0003929", "MEDGEN:338087", "MESH:C538342", "OMIM:255990", "Orphanet:2663", "SCTID:716170005", "UMLS:C1850626"]}
{"category": ["biolink:Disease"], "description": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.", "id": "MONDO:0009722", "name": "Bailey-bloch congenital myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bailey-Bloch congenital myopathy", "Native American myopathy", "STAC3 disorder", "congenital myopathy-cleft palate-malignant hyperthermia syndrome", "myopathy, congenital, baily-bloch"], "xref": ["DOID:0060346", "GARD:0008432", "MEDGEN:340586", "MESH:C538343", "OMIM:255995", "Orphanet:168572", "SCTID:723439002", "UMLS:C1850625"]}
{"category": ["biolink:Disease"], "description": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.", "id": "MONDO:0009723", "name": "Leigh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LS", "LSS", "Leigh disease", "Leigh syndrome", "Leigh syndrome spectrum", "Leigh's disease", "infantile subacute necrotizing encephalopathy"], "xref": ["DOID:3652", "GARD:0006877", "ICD10CM:G31.82", "ICD9:330.8", "MEDGEN:419518", "MESH:D007888", "MedDRA:10062950", "NANDO:1200175", "NANDO:2200527", "NCIT:C84814", "NORD:1355", "OMIM:256000", "Orphanet:506", "SCTID:29570005", "UMLS:C2931891", "icd11.foundation:672871576"]}
{"category": ["biolink:Disease"], "description": "A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.", "id": "MONDO:0009724", "name": "Nail-patella-like renal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Salcedo syndrome", "focal segmental glomerulosclerosis 10", "nail-patella-like renal disease"], "xref": ["GARD:0000321", "ICD9:756.89", "MEDGEN:140789", "MESH:C537228", "OMIM:256020", "Orphanet:2613", "SCTID:236527004", "UMLS:C0403548"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.", "id": "MONDO:0009725", "name": "Nemaline myopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEB nemaline myopathy", "NEM2", "nemaline myopathy 2", "nemaline myopathy caused by mutation in NEB", "nemaline myopathy type 2"], "xref": ["DOID:0110928", "GARD:0015209", "MEDGEN:342534", "MESH:C538349", "NCIT:C118784", "OMIM:256030", "UMLS:C1850569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009726", "name": "Proteosome-associated autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALDD", "ALDD syndrome", "CANDLE syndrome", "JMP syndrome", "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy", "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy", "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome", "NNS", "Nakajo Nishimura syndrome", "Nakajo syndrome", "Nakajo-Nishimura syndrome", "PRAAS", "autoinflammation, lipodystrophy, and dermatosis syndrome", "autoinflammation-lipodystrophy-dermatosis syndrome", "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature", "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome", "proteasome disability syndrome", "proteasome-associated autoinflammatory syndrome", "secondary hypertrophic osteoperiostosis with pernio"], "xref": ["DOID:0050553", "DOID:0060913", "GARD:0013824", "ICD9:709.8", "MEDGEN:376827", "MESH:C538334", "NANDO:1200867", "NANDO:2200435", "OMIMPS:256040", "Orphanet:2615", "Orphanet:324977", "Orphanet:324999", "Orphanet:325004", "SCTID:702449004", "UMLS:C1850568"]}
{"category": ["biolink:Disease"], "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.", "id": "MONDO:0009727", "name": "Atelosteogenesis type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AO2", "AOII", "atelosteogenesis type 2", "atelosteogenesis type II", "neonatal osseous dysplasia type 1"], "xref": ["GARD:0008329", "ICD9:756.9", "MEDGEN:338072", "MESH:C535395", "OMIM:256050", "Orphanet:56304", "SCTID:254055004", "UMLS:C1850554"]}
{"category": ["biolink:Disease"], "description": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.", "id": "MONDO:0009728", "name": "Nephronophthisis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["NPH1", "NPHP1", "NPHP1 nephronophthisis (disease)", "familial juvenile nephronophthisis", "juvenile nephronophthisis", "nephronophthisis (disease) caused by mutation in NPHP1", "nephronophthisis 1", "nephronophthisis 1, juvenile", "nephronophthisis type 1"], "xref": ["DOID:0111112", "GARD:0018645", "MEDGEN:343406", "MESH:C537699", "NANDO:1201036", "NANDO:2200140", "NCIT:C74998", "OMIM:256100", "Orphanet:93592", "SCTID:444830001", "UMLS:C1855681"]}
{"category": ["biolink:Disease"], "description": "Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.", "id": "MONDO:0009729", "name": "Nephropathy - deafness - hyperparathyroidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Edwards-Patton-Dilly syndrome"], "xref": ["GARD:0003940", "MEDGEN:340569", "MESH:C536401", "OMIM:256120", "Orphanet:2668", "SCTID:724093004", "UMLS:C1850553"]}
{"category": ["biolink:Disease"], "description": "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.", "id": "MONDO:0009731", "name": "Nephrosis-deafness-urinary tract-digital malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Braun-Bayer syndrome"], "xref": ["GARD:0003943", "MEDGEN:340568", "MESH:C536402", "OMIM:256200", "Orphanet:2669", "UMLS:C1850552"]}
{"category": ["biolink:Disease"], "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.", "id": "MONDO:0009732", "name": "Congenital nephrotic syndrome, finnish type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Finnish congenital nephrosis", "congenital nephrotic syndrome - Finnish type", "congenital nephrotic syndrome, Finnish type", "nephrotic syndrome - NPHS1 associated"], "xref": ["DOID:0080390", "GARD:0001500", "MEDGEN:98011", "MedDRA:10060740", "NANDO:2200110", "NCIT:C122795", "OMIM:256300", "Orphanet:839", "SCTID:197601003", "UMLS:C0403399"]}
{"category": ["biolink:Disease"], "description": "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.", "id": "MONDO:0009733", "name": "Nephrotic syndrome, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WT1 nephrotic syndrome", "congenital nephrotic syndrome - diffuse mesangial sclerosis", "nephrotic syndrome caused by mutation in WT1", "nephrotic syndrome, type 4"], "xref": ["DOID:0080383", "GARD:0015210", "MEDGEN:462918", "NCIT:C121198", "OMIM:256370", "UMLS:C3151568"]}
{"category": ["biolink:Disease"], "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.", "id": "MONDO:0009734", "name": "Hyperinsulinemic hypoglycemia, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABCC8 hyperinsulinemic hypoglycemia (disease)", "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8", "hyperinsulinemic hypoglycemia due to SUR1 deficiency", "hyperinsulinemic hypoglycemia, familial, 1", "hyperinsulinemic hypoglycemia, familial, type 1"], "xref": ["DOID:0070219", "GARD:0024690", "MEDGEN:419505", "OMIM:256450", "SCTID:360339005", "UMLS:C2931832"]}
{"category": ["biolink:Disease"], "description": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.", "id": "MONDO:0009735", "name": "Netherton syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Comèl-Netherton syndrome", "Ichthyosis, Netherton Syndrome", "NS", "Netherton syndrome", "bamboo hair syndrome"], "xref": ["DOID:0050474", "GARD:0007182", "MEDGEN:1802991", "MESH:D056770", "MedDRA:10062909", "NANDO:1200338", "NANDO:1200619", "NANDO:2200993", "NCIT:C84922", "NORD:1290", "OMIM:256500", "Orphanet:634", "SCTID:312514006", "UMLS:C5574950", "icd11.foundation:1797493665"]}
{"category": ["biolink:Disease"], "description": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.", "id": "MONDO:0009736", "name": "Neu-laxova syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["3-Phosphoglycerate dehydrogenase deficiency, neonatal form", "3-phosphoglycerate dehydrogenase deficiency, prenatal form", "Neu-Laxova syndrome 1", "Neu-Laxova syndrome caused by mutation in PHGDH", "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency", "Neu-Laxova syndrome type 1", "PHGDH Neu-Laxova syndrome"], "xref": ["DOID:0080076", "GARD:0022336", "MEDGEN:1633287", "OMIM:256520", "Orphanet:583607", "UMLS:C4551478"]}
{"category": ["biolink:Disease"], "description": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.", "id": "MONDO:0009737", "name": "Galactosialidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goldberg syndrome", "galactosialidosis", "neuraminidase deficiency with beta-galactosidase deficiency"], "xref": ["DOID:0080540", "GARD:0003953", "ICD9:277.6", "MEDGEN:82779", "MESH:C536411", "NANDO:1200119", "NANDO:2200557", "NCIT:C129928", "OMIM:256540", "Orphanet:351", "SCTID:35691006", "UMLS:C0268233", "icd11.foundation:1838660035"]}
{"category": ["biolink:Disease"], "description": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.", "id": "MONDO:0009738", "name": "Sialidosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEU1 sialidosis", "dysmorphic sialidosis", "dysmorphic sialidosis with renal involvement", "infantile dysmorphic sialidosis", "mucolipidosis I", "nephrosialidosis", "sialidosis caused by mutation in NEU1", "sialidosis type II", "sialidosis, type 2", "sialidosis, type I"], "xref": ["DOID:3343", "GARD:0007183", "MEDGEN:924303", "MESH:C562606", "NANDO:1200118", "NANDO:1200120", "NANDO:2201192", "NANDO:2201193", "NCIT:C125596", "OMIM:256150", "OMIM:256550", "Orphanet:87876", "SCTID:52186006", "SCTID:81896006", "UMLS:C4282398", "icd11.foundation:1855856697"]}
{"category": ["biolink:Disease"], "description": "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.", "id": "MONDO:0009740", "name": "Neurofaciodigitorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Freire Maia-Pinheiro-Opitz syndrome", "neurofaciodigitorenal syndrome"], "xref": ["GARD:0003964", "MEDGEN:163212", "MESH:C537388", "OMIM:256690", "Orphanet:2673", "SCTID:725908007", "UMLS:C0796088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009741", "name": "Neuroblastoma, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation"], "xref": ["GARD:0027791", "MEDGEN:412713", "OMIM:256700", "UMLS:C2749485"]}
{"category": ["biolink:Disease"], "description": "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment.", "id": "MONDO:0009742", "name": "Neuroectodermal melanolysosomal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Elejalde disease", "neuroectodermal melanolysosomal disease"], "xref": ["GARD:0016630", "MEDGEN:348553", "MESH:C536203", "OMIM:256710", "Orphanet:33445", "SCTID:724091002", "UMLS:C1860157", "icd11.foundation:771734461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009743", "name": "Neurologic disease, infantile multisystem, with osseous fragility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurologic disease, infantile multisystem, with osseous fragility"], "xref": ["MEDGEN:338057", "MESH:C564954", "OMIM:256720", "UMLS:C1850465"]}
{"category": ["biolink:Disease"], "description": "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.", "id": "MONDO:0009744", "name": "Neuronal ceroid lipofuscinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN1", "CLN1 disease", "CLN1 variable age at onset", "PPT1 neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis neuronal 1", "ceroid lipofuscinosis, neuronal, 1", "ceroid lipofuscinosis, neuronal, 1, variable Age at onset", "ceroid lipofuscinosis, neuronal, type 1", "ceroid storage disease", "neuronal ceroid lipofuscinosis 1", "neuronal ceroid lipofuscinosis caused by mutation in PPT1", "neuronal ceroid lipofuscinosis type 1"], "xref": ["DOID:0110721", "GARD:0001219", "MEDGEN:340540", "NANDO:1200152", "NANDO:2201241", "NCIT:C85861", "OMIM:214200", "OMIM:256730", "Orphanet:228329", "SCTID:720830009", "UMLS:C1850451"]}
{"category": ["biolink:Disease"], "description": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "id": "MONDO:0009745", "name": "Neuronal ceroid lipofuscinosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN5", "CLN5 neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 5", "neuronal ceroid lipofuscinosis caused by mutation in CLN5", "neuronal ceroid lipofuscinosis type 5"], "xref": ["DOID:0110728", "GARD:0001223", "MEDGEN:376792", "MESH:C575534", "OMIM:256731", "Orphanet:228360", "UMLS:C1850442"]}
{"category": ["biolink:Disease"], "description": "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.", "id": "MONDO:0009746", "name": "Hereditary sensory and autonomic neuropathy type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN4", "Hereditary Sensory and Autonomic Neuropathy Type IV", "NTRK1 hereditary sensory and autonomic neuropathy", "congenital insensitivity to pain with anhidrosis", "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1", "hereditary sensory and autonomic neuropathy type IV", "insensitivity to pain, congenital, with anhidrosis"], "xref": ["DOID:0070146", "GARD:0003006", "MEDGEN:6915", "NANDO:1200553", "NANDO:2200854", "NCIT:C118633", "NORD:1236", "OMIM:256800", "Orphanet:642", "PMID:14272277", "PMID:8696348", "SCTID:62985007", "UMLS:C0020074", "icd11.foundation:1831234152"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009747", "name": "Mitochondrial dna depletion syndrome 6 (hepatocerebral type)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Navajo neurohepatopathy", "Navajo neuropathy", "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"], "xref": ["DOID:0080125", "GARD:0003972", "MEDGEN:338045", "MESH:C538344", "OMIM:256810", "Orphanet:255229", "UMLS:C1850406"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.", "id": "MONDO:0009748", "name": "Hereditary sensory and autonomic neuropathy with spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN with spastic paraplegia", "hereditary sensory and autonomic neuropathy with spastic paraplegia"], "xref": ["DOID:0061188", "GARD:0016959", "MEDGEN:342492", "MESH:C564948", "OMIM:256840", "Orphanet:139578", "SCTID:717827000", "UMLS:C1850395", "icd11.foundation:813709854"]}
{"category": ["biolink:Disease"], "description": "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.", "id": "MONDO:0009749", "name": "Giant axonal neuropathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GAN", "GAN giant axonal neuropathy", "gan", "gan giant axonal neuropathy", "giant axonal neuropathy 1", "giant axonal neuropathy caused by mutation in GAN", "giant axonal neuropathy caused by mutation in gan", "giant axonal neuropathy type 1", "giant axonal neuropathy-1"], "xref": ["DOID:0090068", "GARD:0006500", "MEDGEN:376775", "OMIM:256850", "Orphanet:643", "UMLS:C1850386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009750", "name": "Neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive"], "xref": ["MEDGEN:342491", "MESH:C564947", "OMIM:256855", "UMLS:C1850385"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.", "id": "MONDO:0009751", "name": "Neuropathy, hereditary sensory, atypical", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["neuropathy, hereditary sensory, atypical"], "xref": ["DOID:0070160", "GARD:0024691", "MEDGEN:376774", "MESH:C564946", "OMIM:256860", "UMLS:C1850384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009752", "name": "Neuropathy, painful", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy, painful"], "xref": ["MEDGEN:342490", "MESH:C564945", "OMIM:256870", "UMLS:C1850383"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009754", "name": "Neutropenia, lethal congenital, with eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neutropenia, lethal congenital, with eosinophilia"], "xref": ["GARD:0006107", "MEDGEN:338037", "MESH:C564943", "OMIM:257100", "UMLS:C1850381"]}
{"category": ["biolink:Disease"], "description": "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.", "id": "MONDO:0009755", "name": "Neutrophil actin dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Atypical Nevus", "Clark Nevus", "Clark's Nevus", "Nevus with architectural disorder", "Nevus with architectural disorder and cytologic atypia of melanocytes", "dysplastic Nevus", "dysplastic nevi", "dysplastic nevus", "lentiginous Nevus", "neutrophil actin dysfunction"], "xref": ["GARD:0027357", "MEDGEN:338036", "MESH:C564942", "NCIT:C3694", "OMIM:257150", "Orphanet:625", "UMLS:C1850380"]}
{"category": ["biolink:Disease"], "description": "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.", "id": "MONDO:0009756", "name": "Niemann-pick disease type a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070111", "GARD:0007206", "ICD10CM:E75.240", "MEDGEN:78650", "MESH:D052536", "NANDO:1200061", "NANDO:2201206", "NCIT:C126561", "OMIM:257200", "Orphanet:77292", "SCTID:52165006", "UMLS:C0268242", "icd11.foundation:530611243"]}
{"category": ["biolink:Disease"], "description": "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.", "id": "MONDO:0009757", "name": "Niemann-pick disease, type c1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Niemann-Pick disease, type C1", "type C1 Niemann-Pick disease"], "xref": ["DOID:0070113", "GARD:0024693", "MEDGEN:465922", "NCIT:C126864", "OMIM:257220", "SCTID:18927009", "SCTID:67855008", "UMLS:C3179455"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.", "id": "MONDO:0009758", "name": "Congenital stationary night blindness 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1B", "GRM6 congenital stationary night blindness", "congenital stationary night blindness 1B", "congenital stationary night blindness caused by mutation in GRM6", "congenital stationary night blindness type 1B", "night blindness, congenital stationary (complete), 1B, autosomal recessive"], "xref": ["DOID:0110865", "GARD:0015212", "MEDGEN:342484", "OMIM:257270", "UMLS:C1850362"]}
{"category": ["biolink:Disease"], "description": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.", "id": "MONDO:0009759", "name": "Mosaic variegated aneuploidy syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BUB1B mosaic variegated aneuploidy syndrome", "Mosaic variegated aneuploidy syndrome type 1", "mosaic variegated aneuploidy syndrome 1", "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B", "mosaic variegated aneuploidy syndrome type 1"], "xref": ["DOID:0080141", "GARD:0024694", "MEDGEN:338026", "NCIT:C128192", "OMIM:257300", "UMLS:C1850343"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.", "id": "MONDO:0009760", "name": "Norman-roberts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Microlissencephaly type A", "Norman-Roberts syndrome", "lissencephaly 2", "lissencephaly 2 (Norman-Roberts type)", "lissencephaly syndrome, Norman-Roberts type"], "xref": ["DOID:0060902", "GARD:0016780", "MEDGEN:163213", "OMIM:257320", "Orphanet:89844", "SCTID:717977003", "UMLS:C0796089", "icd11.foundation:164166454"]}
{"category": ["biolink:Disease"], "description": "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.", "id": "MONDO:0009761", "name": "Cystic hygroma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cystic hygroma", "cystic lymphangioma", "hygroma"], "xref": ["DOID:3081", "EFO:1000888", "GARD:0006234", "ICDO:9173/0", "MEDGEN:60195", "MESH:D018191", "MedDRA:10058949", "NCIT:C3724", "OMIM:257350", "Orphanet:79486", "SCTID:399882002", "UMLS:C0206620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009762", "name": "Nystagmus, congenital, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nystagmus, congenital, autosomal recessive"], "xref": ["DOID:0061178", "GARD:0009609", "MEDGEN:462921", "MESH:C564938", "OMIM:257400", "UMLS:C3151571"]}
{"category": ["biolink:Disease"], "description": "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.", "id": "MONDO:0009763", "name": "Obesity-hypoventilation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obesity-hypoventilation syndrome"], "xref": ["EFO:1001382", "ICD9:786.09", "MEDGEN:18472", "MESH:D010845", "NANDO:1200752", "OMIM:257500", "SCTID:190966007", "UMLS:C0031880"]}
{"category": ["biolink:Disease"], "description": "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.", "id": "MONDO:0009764", "name": "Ocular motor apraxia, cogan type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["oculomotor apraxia, Cogan type", "oculomotor apraxia, congenital, Cogan-type"], "xref": ["DOID:0080849", "GARD:0000016", "MEDGEN:154254", "MESH:C537423", "NORD:1517", "OMIM:257550", "Orphanet:1125", "SCTID:405809000", "UMLS:C0543874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009765", "name": "Ocular myopathy with curare sensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ocular myopathy with curare sensitivity"], "xref": ["MEDGEN:376764", "MESH:C564937", "OMIM:257600", "UMLS:C1850341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009766", "name": "Oculocerebral hypopigmentation syndrome of preus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["oculocerebral hypopigmentation syndrome of Preus"], "xref": ["GARD:0004034", "MEDGEN:419131", "MESH:C537866", "OMIM:257790", "Orphanet:2720", "SCTID:716174001", "UMLS:C2931646"]}
{"category": ["biolink:Disease"], "description": "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.", "id": "MONDO:0009767", "name": "Oculocerebral hypopigmentation syndrome, cross type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cross syndrome", "Oculocerebral Syndrome with Hypopigmentation"], "xref": ["GARD:0000105", "ICD9:759.89", "MEDGEN:423639", "NORD:1520", "OMIM:257800", "Orphanet:2719", "SCTID:17827007", "UMLS:C2936910"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of oculodentodigital dysplasia.", "id": "MONDO:0009768", "name": "Oculodentodigital dysplasia, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive oculodentodigital dysplasia", "oculodentodigital dysplasia, autosomal recessive"], "xref": ["GARD:0015213", "MEDGEN:412708", "MESH:C567605", "OMIM:257850", "UMLS:C2749477"]}
{"category": ["biolink:Disease"], "description": "Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.", "id": "MONDO:0009769", "name": "Oculo-palato-cerebral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["oculo-palato-cerebral dwarfism"], "xref": ["GARD:0016606", "MEDGEN:338025", "MESH:C564935", "OMIM:257910", "Orphanet:2714", "SCTID:722055008", "UMLS:C1850338"]}
{"category": ["biolink:Disease"], "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.", "id": "MONDO:0009770", "name": "3mc syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["3MC syndrome 1", "3MC syndrome caused by mutation in MASP1", "3MC syndrome type 1", "3Mc syndrome type 1", "MASP1 3MC syndrome"], "xref": ["DOID:0060575", "EFO:1001978", "GARD:0004049", "MEDGEN:167100", "OMIM:257920", "Orphanet:2506", "UMLS:C0796059"]}
{"category": ["biolink:Disease"], "description": "Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.", "id": "MONDO:0009771", "name": "Oculotrichodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cecato de Lima-Pinheiro syndrome", "oculotrichodysplasia"], "xref": ["GARD:0016607", "MEDGEN:340517", "MESH:C564934", "OMIM:257960", "Orphanet:2718", "SCTID:722062004", "UMLS:C1850332", "icd11.foundation:1202969811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009772", "name": "Oculorenocerebellar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["oculorenocerebellar syndrome"], "xref": ["GARD:0004050", "MEDGEN:340516", "MESH:C537739", "OMIM:257970", "Orphanet:2715", "UMLS:C1850331"]}
{"category": ["biolink:Disease"], "description": "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.", "id": "MONDO:0009773", "name": "Odonto-onycho-dermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OODD"], "xref": ["GARD:0004054", "MEDGEN:208666", "MESH:C537742", "OMIM:257980", "Orphanet:2721", "SCTID:403762003", "UMLS:C0796093", "icd11.foundation:1256237872"]}
{"category": ["biolink:Disease"], "description": "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.", "id": "MONDO:0009774", "name": "Cloacal exstrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["cloacal exstrophy", "cloacal exstrophy (disease)", "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"], "xref": ["DOID:0080175", "GARD:0004080", "HP:0010475", "ICD9:759.89", "MEDGEN:83377", "MESH:C537748", "MedDRA:10067424", "NANDO:1200909", "NANDO:1200910", "NANDO:2200950", "NANDO:2200951", "Orphanet:93929", "SCTID:20815007", "UMLS:C0345217", "icd11.foundation:2004612103"]}
{"category": ["biolink:Disease"], "description": "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.", "id": "MONDO:0009775", "name": "Oguchi disease-1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSNBO1", "Oguchi disease caused by mutation in SAG", "Oguchi disease type 1", "SAG Oguchi disease"], "xref": ["DOID:0110712", "GARD:0024695", "MEDGEN:1645330", "OMIM:258100", "UMLS:C4551824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009776", "name": "Spermatogenic failure 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPGF1", "spermatogenic failure 1"], "xref": ["DOID:0070188", "GARD:0015214", "MEDGEN:140793", "MESH:C562902", "OMIM:258150", "SCTID:236803007", "UMLS:C0403810"]}
{"category": ["biolink:Disease"], "description": "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.", "id": "MONDO:0009777", "name": "Oliver syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oliver syndrome", "postaxial polydactyly-intellectual disability syndrome"], "xref": ["GARD:0004069", "MEDGEN:342472", "MESH:C564931", "OMIM:258200", "Orphanet:2920", "SCTID:721017000", "UMLS:C1850320", "icd11.foundation:2072460929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009778", "name": "Olivopontocerebellar atrophy ii, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["olivopontocerebellar atrophy II, autosomal recessive"], "xref": ["MEDGEN:376758", "MESH:C564930", "OMIM:258300", "UMLS:C1850319"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of omodysplasia.", "id": "MONDO:0009779", "name": "Autosomal recessive omodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive omodysplasia", "micromelic dysplasia-dislocation of radius syndrome", "omodysplasia type 1", "omodysplasia, autosomal recessive"], "xref": ["DOID:0080844", "GARD:0004076", "MEDGEN:340513", "OMIM:258315", "Orphanet:93329", "SCTID:725166005", "UMLS:C1850318", "icd11.foundation:350802889"]}
{"category": ["biolink:Disease"], "description": "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.", "id": "MONDO:0009780", "name": "Lethal omphalocele-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Czeizel syndrome"], "xref": ["GARD:0004079", "MEDGEN:376757", "MESH:C537747", "OMIM:258320", "Orphanet:2736", "SCTID:719408007", "UMLS:C1850317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009781", "name": "Onychotrichodysplasia and neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Onychotrichodysplasia and neutropenia", "onycho-tricho-dysplasia-neutropenia syndrome"], "xref": ["GARD:0010161", "MEDGEN:340512", "MESH:C537752", "OMIM:258360", "Orphanet:2739", "UMLS:C1850316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009782", "name": "Ophthalmoplegia totalis with ptosis and miosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ophthalmoplegia totalis with ptosis and miosis"], "xref": ["MEDGEN:342471", "MESH:C564927", "OMIM:258400", "UMLS:C1850314"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.", "id": "MONDO:0009783", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["POLG autosomal recessive progressive external ophthalmoplegia", "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1"], "xref": ["DOID:0111522", "GARD:0015215", "MEDGEN:897191", "OMIM:258450", "UMLS:C4225153"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009784", "name": "Ophthalmoplegic neuromuscular disorder with abnormal mitochondria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ophthalmoplegic neuromuscular disorder with abnormal mitochondria"], "xref": ["MEDGEN:340508", "MESH:C564925", "OMIM:258470", "UMLS:C1850302"]}
{"category": ["biolink:Disease"], "description": "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.", "id": "MONDO:0009785", "name": "Opsismodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["opsismodysplasia"], "xref": ["GARD:0004098", "MEDGEN:140927", "MESH:C537122", "OMIM:258480", "Orphanet:2746", "SCTID:254068007", "UMLS:C0432219", "icd11.foundation:2147268863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009786", "name": "Optic atrophy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPA6", "optic atrophy 6"], "xref": ["DOID:0111435", "GARD:0010200", "MEDGEN:338012", "MESH:C537127", "OMIM:258500", "Orphanet:99012", "UMLS:C1850281"]}
{"category": ["biolink:Disease"], "description": "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.", "id": "MONDO:0009787", "name": "3-methylglutaconic aciduria type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria caused by mutation in OPA3", "Costeff optic atrophy syndrome", "Costeff syndrome", "MGA3", "OPA3 3-methylglutaconic aciduria", "autosomal recessive optic atrophy plus syndrome", "autosomal recessive optic atrophy type 3", "infantile optic atrophy with chorea and spastic paraplegia"], "xref": ["DOID:0110004", "GARD:0005663", "MEDGEN:108273", "MESH:C535311", "NANDO:1200992", "OMIM:258501", "Orphanet:67047", "SCTID:297232009", "UMLS:C0574084", "icd11.foundation:535412248"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009788", "name": "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive"], "xref": ["MEDGEN:1875237", "OMIM:258650", "UMLS:C5975709"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009790", "name": "Opticocochleodentate degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Opticocochleodentate degeneration"], "xref": ["ICD9:333.90", "MEDGEN:101046", "MESH:C563002", "OMIM:258700", "SCTID:77553008", "UMLS:C0520711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009791", "name": "Oral sensibility, disturbance of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:other_hierarchy"], "synonym": ["oral sensibility, disturbance of"], "xref": ["MEDGEN:376745", "OMIM:258800", "UMLS:C1850269"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.", "id": "MONDO:0009792", "name": "Ichthyosis-oral and digital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Clayton Smith-Donnai syndrome"], "xref": ["GARD:0002960", "MEDGEN:342457", "MESH:C536272", "OMIM:258840", "Orphanet:2272", "UMLS:C1850268"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.", "id": "MONDO:0009793", "name": "Orofaciodigital syndrome iii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["OFD3", "Sugarman syndrome", "oral-facial-digital syndrome type 3", "orofaciodigital syndrome III", "orofaciodigital syndrome type III"], "xref": ["DOID:0060373", "GARD:0010518", "MEDGEN:96069", "MESH:C557817", "OMIM:258850", "Orphanet:2752", "SCTID:239030004", "UMLS:C0406726"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.", "id": "MONDO:0009794", "name": "Orofaciodigital syndrome iv", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baraitser-Burn syndrome", "Mohr-Majewski syndrome", "OFD4", "oral-facial-digital syndrome type 4", "orofaciodigital syndrome IV", "orofaciodigital syndrome type 4", "orofaciodigital syndrome type IV"], "xref": ["DOID:0060374", "GARD:0000816", "MEDGEN:98358", "MESH:C537133", "OMIM:258860", "Orphanet:2753", "SCTID:239031000", "UMLS:C0406727"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).", "id": "MONDO:0009795", "name": "Orofaciodigital syndrome ix", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFD9", "oral-facial-digital syndrome type 9", "oral-facial-digital syndrome with retinal abnormalities", "orofaciodigital syndrome IX", "orofaciodigital syndrome type IX", "orofaciodigital syndrome with retinal abnormalities"], "xref": ["DOID:0060382", "GARD:0010520", "MEDGEN:162908", "MESH:C557818", "OMIM:258865", "Orphanet:141007", "SCTID:718680001", "UMLS:C0796102"]}
{"category": ["biolink:Disease"], "description": "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.", "id": "MONDO:0009796", "name": "Ornithine aminotransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GACR", "HOGA", "gyrate atrophy", "gyrate atrophy of choroid and retina with or without ornithinemia", "hoga", "hyperornithinemia", "hyperornithinemia-gyrate atrophy of choroid and retina syndrome", "ornithine aminotransferase deficiency"], "xref": ["DOID:1415", "GARD:0006556", "MEDGEN:6695", "MESH:D015799", "NANDO:2200484", "NANDO:2200486", "NCIT:C84744", "OMIM:258870", "Orphanet:414", "UMLS:C0018425"]}
{"category": ["biolink:Disease"], "description": "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.", "id": "MONDO:0009797", "name": "Orotic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hereditary Orotic Aciduria", "orotic aciduria", "oroticaciduria", "orotidylic decarboxylase deficiency", "uridine monophosphate synthetase deficiency"], "xref": ["DOID:0050833", "GARD:0005429", "MEDGEN:472940", "MedDRA:10052621", "NANDO:2200590", "NCIT:C98944", "NORD:1942", "OMIM:258900", "Orphanet:30", "SCTID:47641009", "UMLS:C0220987", "icd11.foundation:449856959"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.", "id": "MONDO:0009798", "name": "Primrose syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Primrose syndrome", "intellectual disability-cataracts-calcified pinnae-myopathy syndrome"], "xref": ["GARD:0004488", "MEDGEN:162911", "MESH:C536420", "OMIM:259050", "Orphanet:3042", "SCTID:726709001", "UMLS:C0796121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009800", "name": "Blount disease, adolescent", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Blount disease, adolescent"], "xref": ["GARD:0015217", "MEDGEN:462922", "OMIM:259200", "UMLS:C3151572"]}
{"category": ["biolink:Disease"], "description": "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0009801", "name": "Familial osteodysplasia, anderson type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004136", "MEDGEN:337990", "MESH:C564923", "OMIM:259250", "Orphanet:2769", "UMLS:C1850186", "icd11.foundation:107132680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009802", "name": "Osteodysplasty, precocious, of danks, mayne, and kozlowski", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteodysplasty, precocious, of Danks, Mayne, and Kozlowski"], "xref": ["MEDGEN:337989", "MESH:C564922", "OMIM:259270", "UMLS:C1850185"]}
{"category": ["biolink:Disease"], "description": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.", "id": "MONDO:0009803", "name": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004139", "MEDGEN:337988", "MESH:C537558", "OMIM:259410", "Orphanet:2772", "UMLS:C1850184"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).", "id": "MONDO:0009804", "name": "Osteogenesis imperfecta type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OI type 3", "OI3", "osteogenesis imperfecta type 3", "osteogenesis imperfecta type III", "progressive deforming osteogenesis imperfecta", "severe osteogenesis imperfecta"], "xref": ["DOID:0110339", "GARD:0008695", "MEDGEN:78664", "MESH:C536044", "NCIT:C99002", "OMIM:259420", "Orphanet:216812", "SCTID:385483009", "UMLS:C0268362", "icd11.foundation:629873920"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.", "id": "MONDO:0009805", "name": "Osteogenesis imperfecta type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI9", "PPIB osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in PPIB", "osteogenesis imperfecta type 9"], "xref": ["DOID:0110349", "GARD:0010619", "MEDGEN:376720", "MESH:C564921", "OMIM:259440", "UMLS:C1850169"]}
{"category": ["biolink:Disease"], "description": "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.", "id": "MONDO:0009806", "name": "Bruck syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Bruck syndrome 1", "Bruck syndrome caused by mutation in FKBP10", "Bruck syndrome type 1", "FKBP10 Bruck syndrome", "arthrogryposis-like disorder"], "xref": ["GARD:0024696", "MEDGEN:342431", "OMIM:259450", "UMLS:C1850168"]}
{"category": ["biolink:Disease"], "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.", "id": "MONDO:0009807", "name": "Osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["osteogenic sarcoma", "osteoid sarcoma", "osteosarcoma", "osteosarcoma (disease)", "osteosarcoma, malignant", "sarcoma of osteoid"], "xref": ["DOID:3347", "EFO:0000637", "HP:0002669", "ICDO:9180/3", "MEDGEN:10501", "MESH:D012516", "NANDO:2200048", "NCIT:C9145", "ONCOTREE:OS", "UMLS:C0029463"]}
{"category": ["biolink:Disease"], "description": "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.", "id": "MONDO:0009808", "name": "Osteoid osteoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["osteoid osteoma", "osteoid osteoma (disease)"], "xref": ["GARD:0024697", "HP:0030433", "ICDO:9191/0", "MEDGEN:18221", "MESH:D010017", "NCIT:C3297", "OMIM:259550", "SCTID:302859004", "UMLS:C0029441"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.", "id": "MONDO:0009809", "name": "Multicentric osteolysis, nodulosis, and arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Al-Aqeel Sewairi syndrome", "MONA", "MONA, MMP2-related", "NAO syndrome", "Torg syndrome", "Winchester-Torg syndrome", "multicentric osteolysis, nodulosis and arthropathy, MMP2-related", "multicentric osteolysis, nodulosis, and arthropathy", "nodulosis-arthropathy-osteolysis syndrome", "osteolysis, hereditary multicentric"], "xref": ["GARD:0013743", "NCIT:C123437", "OMIM:259600"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.", "id": "MONDO:0009810", "name": "Autosomal recessive distal osteolysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Petit-Fryns syndrome", "distal osteolysis-short stature-intellectual disability syndrome"], "xref": ["GARD:0004299", "MEDGEN:376714", "MESH:C536052", "OMIM:259610", "Orphanet:2776", "SCTID:715487005", "UMLS:C1850143", "icd11.foundation:1878981266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009811", "name": "Osteoma of middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteoma of middle ear"], "xref": ["MEDGEN:342425", "MESH:C564917", "OMIM:259650", "UMLS:C1850142"]}
{"category": ["biolink:Disease"], "description": "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.", "id": "MONDO:0009813", "name": "Chronic recurrent multifocal osteomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CNO/CRMO", "CRMO", "NBO", "chronic multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis (disease)", "non-bacterial osteomyelitis"], "xref": ["DOID:0060645", "GARD:0006108", "HP:0002754", "ICD10CM:M86.3", "MEDGEN:140822", "MESH:C535456", "NANDO:1200869", "NANDO:2200438", "NCIT:C119042", "OMIMPS:609628", "Orphanet:324964", "SCTID:240151005", "UMLS:C0410422", "icd11.foundation:1256384247"]}
{"category": ["biolink:Disease"], "description": "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0009814", "name": "Osteopenia-intellectual disability-sparse hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaler-Garrity-Stern syndrome"], "xref": ["GARD:0000354", "MEDGEN:337979", "MESH:C537706", "OMIM:259690", "Orphanet:2324", "SCTID:732954002", "UMLS:C1850140"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.", "id": "MONDO:0009815", "name": "Autosomal recessive osteopetrosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPTB1", "TCIRG1 autosomal recessive malignant osteopetrosis", "TCIRG1 autosomal recessive osteopetrosis", "autosomal recessive Albers-Schonberg disease", "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1", "autosomal recessive osteopetrosis 1", "autosomal recessive osteopetrosis caused by mutation in TCIRG1", "autosomal recessive osteopetrosis type 1", "infantile malignant osteopetrosis 1", "osteopetrosis, autosomal recessive type 1"], "xref": ["DOID:0110942", "GARD:0002579", "MEDGEN:376708", "MESH:C564915", "NCIT:C167215", "OMIM:259700", "UMLS:C1850127"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.", "id": "MONDO:0009816", "name": "Autosomal recessive osteopetrosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPTB2", "TNFSF11 autosomal recessive malignant osteopetrosis", "TNFSF11 autosomal recessive osteopetrosis", "TNFSF11-related osteopetrosis", "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11", "autosomal recessive osteopetrosis caused by mutation in TNFSF11", "autosomal recessive osteopetrosis type 2", "osteopetrosis, autosomal recessive type 2"], "xref": ["DOID:0110943", "GARD:0004157", "MEDGEN:342420", "MESH:C536059", "OMIM:259710", "UMLS:C1850126"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.", "id": "MONDO:0009817", "name": "Autosomal recessive osteopetrosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPTB5", "OSTM1 osteopetrosis (disease)", "autosomal recessive osteopetrosis 5", "autosomal recessive osteopetrosis type 5", "osteopetrosis (disease) caused by mutation in OSTM1", "osteopetrosis, autosomal recessive type 5"], "xref": ["DOID:0110939", "GARD:0004153", "MEDGEN:409627", "MESH:C566883", "OMIM:259720", "UMLS:C1968603"]}
{"category": ["biolink:Disease"], "description": "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.", "id": "MONDO:0009818", "name": "Autosomal recessive osteopetrosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Autosomal Recessive osteopetrosis, type 3", "CA2 osteopetrosis (disease)", "Guibaud-Vainsel syndrome", "OPTB3", "autosomal recessive osteopetrosis type 3", "carbonic anhydrase 2 deficiency", "carbonic anhydrase II deficiency", "marble brain disease", "mixed RTA", "mixed renal tubular acidosis", "osteopetrosis (disease) caused by mutation in CA2", "osteopetrosis with renal tubular acidosis", "osteopetrosis, autosomal recessive 3, with renal tubular acidosis", "osteopetrosis, autosomal recessive type 3", "renal tubular acidosis type 3"], "xref": ["DOID:0110941", "GARD:0004154", "ICD9:588.89", "MEDGEN:91042", "MESH:C536058", "NCIT:C118438", "OMIM:259730", "Orphanet:2785", "SCTID:254122007", "UMLS:C0345407"]}
{"category": ["biolink:Disease"], "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.", "id": "MONDO:0009820", "name": "Osteoporosis-pseudoglioma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPPG", "osteoporosis-pseudoglioma syndrome"], "xref": ["DOID:0060849", "GARD:0004160", "MEDGEN:98480", "MESH:C536063", "MedDRA:10052452", "NCIT:C130998", "OMIM:259770", "Orphanet:2788", "UMLS:C0432252"]}
{"category": ["biolink:Disease"], "description": "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.", "id": "MONDO:0009821", "name": "Lethal osteosclerotic bone dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RAINE syndrome", "Raine syndrome", "lethal osteosclerotic bone dysplasia", "osteomalacia, sclerosing, with cerebral calcification", "osteosclerotic bone dysplasia, lethal"], "xref": ["GARD:0000282", "MEDGEN:342416", "MESH:C535282", "MESH:C564916", "OMIM:259660", "OMIM:259775", "Orphanet:1832", "UMLS:C1850106", "icd11.foundation:1306493470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009822", "name": "Otoonychoperoneal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["otoonychoperoneal syndrome"], "xref": ["GARD:0004170", "ICD9:759.89", "MEDGEN:376704", "MESH:C564912", "OMIM:259780", "Orphanet:2793", "SCTID:441944007", "UMLS:C1850105"]}
{"category": ["biolink:Disease"], "description": "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.", "id": "MONDO:0009823", "name": "Primary hyperoxaluria type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AGXT primary hyperoxaluria", "PH1", "glycolic aciduria", "peroxisomal alanine-glyoxylate aminotransferase deficiency", "primary hyperoxaluria caused by mutation in AGXT", "primary hyperoxaluria type 1", "primary hyperoxaluria type I"], "xref": ["DOID:0111670", "GARD:0002835", "ICD9:271.8", "MEDGEN:75658", "MESH:C536414", "NANDO:1200773", "NCIT:C123212", "OMIM:259900", "Orphanet:93598", "SCTID:65520001", "UMLS:C0268164", "icd11.foundation:692812009"]}
{"category": ["biolink:Disease"], "description": "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.", "id": "MONDO:0009824", "name": "Primary hyperoxaluria type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["D-glycerate dehydrogenase deficiency", "GRHPR primary hyperoxaluria", "L-glyceric aciduria", "primary hyperoxaluria caused by mutation in GRHPR", "primary hyperoxaluria type 2", "primary hyperoxaluria type II"], "xref": ["DOID:0111671", "GARD:0002836", "ICD9:271.8", "MEDGEN:120616", "MESH:C536415", "NCIT:C123213", "OMIM:260000", "Orphanet:93599", "SCTID:40951006", "UMLS:C0268165", "icd11.foundation:347920969"]}
{"category": ["biolink:Disease"], "description": "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.", "id": "MONDO:0009825", "name": "5-oxoprolinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["5-oxoprolinase deficiency", "5-oxoprolinase deficiency (disease)", "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder", "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity", "oxoprolinuria due to oxoprolinase deficiency", "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity"], "xref": ["GARD:0005681", "HP:0040142", "ICD9:270.8", "MEDGEN:82814", "MESH:C535322", "OMIM:260005", "Orphanet:33572", "SCTID:26132002", "UMLS:C0268525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009828", "name": "Palant cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Palant cleft palate syndrome"], "xref": ["MEDGEN:337971", "MESH:C538102", "OMIM:260150", "UMLS:C1850102"]}
{"category": ["biolink:Disease"], "description": "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.", "id": "MONDO:0009830", "name": "Parkinsonian-pyramidal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pallidopyramidal syndrome", "Parkinson disease 15, autosomal recessive", "autosomal recessive early-onset Parkinson disease type 15", "pallidopyramidal syndrome", "parkinsonian-pyramidal syndrome"], "xref": ["DOID:0060372", "GARD:0009175", "MEDGEN:337969", "MESH:C538104", "OMIM:260300", "Orphanet:171695", "UMLS:C1850100", "icd11.foundation:1128311778"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm involving the pancreas.", "id": "MONDO:0009831", "name": "Malignant pancreatic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of pancreas", "malignant neoplasm of pancreas", "malignant neoplasm of the pancreas", "malignant pancreas neoplasm", "malignant pancreatic neoplasm", "pancreas cancer", "pancreatic cancer"], "xref": ["DOID:1793", "EFO:1000359", "GARD:0027792", "ICD10CM:C25", "ICD9:157.0", "ICD9:157.1", "ICD9:157.2", "ICD9:157.8", "MEDGEN:138068", "NCIT:C9005", "UMLS:C0346647", "icd11.foundation:542147910"]}
{"category": ["biolink:Disease"], "description": "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.", "id": "MONDO:0009832", "name": "Pancreatic agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["congenital pancreatic agenesis", "pancreatic agenesis type 1", "partial agenesis of the pancreas", "partial pancreatic agenesis"], "xref": ["DOID:0050877", "GARD:0004203", "MEDGEN:1681783", "MESH:C564908", "OMIMPS:260370", "Orphanet:2805", "SCTID:719044008", "UMLS:C5195568", "icd11.foundation:634711891"]}
{"category": ["biolink:Disease"], "description": "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.", "id": "MONDO:0009833", "name": "Shwachman-diamond syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SDS", "Schwachman-Diamond syndrome", "Schwachmann-Diamond syndrome", "Shwachman Diamond Syndrome", "Shwachman syndrome", "Shwachman-Bodian-Diamond syndrome", "Shwachman-Diamond syndrome", "pancreatic insufficiency and bone marrow dysfunction"], "xref": ["DOID:0060479", "DOID:0080023", "GARD:0004863", "MEDGEN:124418", "MESH:C537330", "MedDRA:10067940", "NANDO:1200356", "NANDO:2200756", "NCIT:C61235", "NORD:1711", "OMIMPS:260400", "Orphanet:811", "SCTID:89454001", "UMLS:C0272170", "icd11.foundation:232885463"]}
{"category": ["biolink:Disease"], "description": "A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.", "id": "MONDO:0009835", "name": "Subacute sclerosing panencephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Immunosuppressive measles encephalitis", "SSPE", "Subacute inclusion body encephalitis", "Subacute sclerosing panencephalitis", "Subacute sclerosing panencephalitis (disorder) [ambiguous]", "Van Bogaert disease", "Van Bogaert encephalitis", "subacute sclerosing panencephalitis"], "xref": ["DOID:8970", "EFO:0007502", "GARD:0007708", "ICD10CM:A81.1", "ICD9:046.2", "MEDGEN:52527", "MESH:D013344", "NANDO:1200195", "NANDO:1200196", "NANDO:1200198", "NANDO:2100245", "NANDO:2200899", "NCIT:C85171", "NORD:1743", "OMIM:260470", "Orphanet:2806", "UMLS:C0038522", "icd11.foundation:1098683540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009836", "name": "Pancreatitis, sclerosing cholangitis, and sicca complex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pancreatitis, sclerosing cholangitis, and sicca complex"], "xref": ["MEDGEN:340461", "MESH:C564906", "OMIM:260480", "UMLS:C1850080"]}
{"category": ["biolink:Disease"], "description": "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.", "id": "MONDO:0009837", "name": "Choroid plexus papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["choroid plexus papilloma", "choroid plexus papilloma, no ICD-O subtype", "papilloma of the choroid plexus"], "xref": ["DOID:2626", "GARD:0004214", "ICDO:9390/0", "MEDGEN:64439", "MESH:D020288", "MedDRA:10008777", "NANDO:2200093", "NCIT:C3698", "OMIM:260500", "ONCOTREE:CPP", "Orphanet:2807", "SCTID:425868004", "UMLS:C0205770", "icd11.foundation:1696749652"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.", "id": "MONDO:0009838", "name": "Parana hard-skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Parana hard-skin syndrome", "hard skin syndrome Parana type", "hard skin syndrome, Parana type", "hard-skin syndrome, Parana type"], "xref": ["GARD:0002598", "MEDGEN:337964", "MESH:C564905", "NCIT:C126559", "OMIM:260530", "Orphanet:2812", "UMLS:C1850079"]}
{"category": ["biolink:Disease"], "description": "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.", "id": "MONDO:0009839", "name": "Progressive supranuclear palsy-parkinsonism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSP-p", "PSP-parkinsonism", "supranuclear palsy, progressive atypical"], "xref": ["GARD:0017183", "MEDGEN:342410", "MESH:C537240", "OMIM:260540", "Orphanet:240085", "UMLS:C1850077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009840", "name": "Partington-anderson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Partington-Anderson syndrome"], "xref": ["MEDGEN:376699", "MESH:C536299", "OMIM:260555", "Orphanet:2829", "UMLS:C1850075"]}
{"category": ["biolink:Disease"], "description": "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.", "id": "MONDO:0009841", "name": "Peho syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["peho syndrome", "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "progressive encephalopathy-optic atrophy syndrome"], "xref": ["DOID:0080539", "GARD:0004264", "MEDGEN:342404", "MESH:C536317", "OMIM:260565", "Orphanet:2836", "UMLS:C1850055", "icd11.foundation:976613527"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.", "id": "MONDO:0009842", "name": "Pelger-huet-like anomaly and episodic fever with abdominal pain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Pelger-Huet-like anomaly and episodic fever with abdominal pain", "immunodeficiency 108 with autoinflammation"], "xref": ["DOID:0061077", "GARD:0024698", "MEDGEN:376692", "MESH:C564899", "OMIM:260570", "UMLS:C1850054"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.", "id": "MONDO:0009843", "name": "Hypomyelinating leukodystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AIMP1 leukodystrophy", "HLD3", "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation", "hypomyelinating leukodystrophy 3", "hypomyelinating leukodystrophy type 3", "leukodystrophy caused by mutation in AIMP1", "leukodystrophy, hypomyelinating, type 3"], "xref": ["DOID:0060790", "GARD:0004266", "MEDGEN:342403", "MESH:C536319", "OMIM:260600", "Orphanet:280293", "UMLS:C1850053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009844", "name": "Pellagra-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["pellagra-like skin rash-neurological manifestations syndrome", "pellagra-like syndrome"], "xref": ["GARD:0004267", "MEDGEN:337955", "MESH:C538352", "OMIM:260650", "Orphanet:2837", "UMLS:C1850052"]}
{"category": ["biolink:Disease"], "description": "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.", "id": "MONDO:0009845", "name": "Pelviscapular dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cousin syndrome", "familial pelvis-scapular dysplasia", "pelviscapular dysplasia"], "xref": ["GARD:0001555", "MEDGEN:342400", "MESH:C535550", "OMIM:260660", "Orphanet:93333", "SCTID:719299009", "UMLS:C1850040"]}
{"category": ["biolink:Disease"], "description": "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.", "id": "MONDO:0009846", "name": "Pentosuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:mostly_harmless", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["essential pentosuria", "pentosuria", "xylitol dehydrogenase deficiency"], "xref": ["DOID:0111258", "GARD:0000418", "ICD9:271.8", "MEDGEN:78646", "MESH:C536652", "MedDRA:10064170", "OMIM:260800", "Orphanet:2843", "SCTID:190764000", "UMLS:C0268162"]}
{"category": ["biolink:Disease"], "description": "Chronic form of pericardial effusion (disease).", "id": "MONDO:0009847", "name": "Pericardial effusion, chronic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic pericardial effusion (disease)", "pericardial effusion (disease), chronic", "pericardial effusion, chronic"], "xref": ["MEDGEN:342399", "MESH:C564895", "OMIM:260900", "UMLS:C1850039"]}
{"category": ["biolink:Disease"], "description": "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.", "id": "MONDO:0009848", "name": "Dissecting cellulitis of the scalp", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dissecting cellulitis of the scalp"], "xref": ["GARD:0001883", "ICD9:704.8", "MEDGEN:78097", "MESH:C562486", "MedDRA:10056961", "OMIM:260910", "Orphanet:345", "SCTID:77333008", "UMLS:C0263506", "icd11.foundation:872245808"]}
{"category": ["biolink:Disease"], "description": "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).", "id": "MONDO:0009849", "name": "Hyperimmunoglobulinemia d with periodic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HIDS", "hyper-IgD syndrome", "hyperimmunoglobinemia D with recurrent fever", "hyperimmunoglobulinemia D syndrome", "partial mevalonate kinase deficiency"], "xref": ["DOID:0081450", "GARD:0002788", "MEDGEN:140768", "NANDO:1200866", "NANDO:2200436", "OMIM:260920", "Orphanet:343", "UMLS:C0398691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009850", "name": "Periodontitis, chronic, adult", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:120593", "OMIM:260950", "SCTID:74797001", "UMLS:C0266929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009851", "name": "Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain"], "xref": ["MEDGEN:342395", "MESH:C564894", "OMIM:260970", "UMLS:C1850022"]}
{"category": ["biolink:Disease"], "description": "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.", "id": "MONDO:0009852", "name": "Hereditary intrinsic factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFD", "congenital intrinsic factor deficiency", "congenital pernicious anaemia", "congenital pernicious anemia", "gastric intrinsic factor deficiency", "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency", "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency"], "xref": ["DOID:0050734", "GARD:0003024", "ICD9:281.3", "MEDGEN:1876474", "MESH:C563242", "MedDRA:10070440", "OMIM:261000", "Orphanet:332", "SCTID:34925000", "SCTID:60504009", "UMLS:C2062370"]}
{"category": ["biolink:Disease"], "description": "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.", "id": "MONDO:0009853", "name": "Imerslund-grasbeck syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Imerslund-Grasbeck syndrome", "Imerslund-Gräsbeck syndrome", "familial megaloblastic anaemia", "familial megaloblastic anemia", "juvenile megaloblastic Anaemia", "juvenile megaloblastic Anemia", "selective cobalamin malabsorption with proteinuria"], "xref": ["GARD:0007006", "ICD9:281.3", "MEDGEN:1640347", "MESH:C538556", "OMIMPS:261100", "Orphanet:35858", "SCTID:360495000", "UMLS:C4551825", "icd11.foundation:375969525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009854", "name": "Peroneus tertius muscle, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peroneus tertius muscle, absence of"], "xref": ["MEDGEN:376684", "OMIM:261400", "UMLS:C1850001"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.", "id": "MONDO:0009855", "name": "D-bifunctional protein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["D-bifunctional enzyme deficiency", "HSD17B4 deficiency", "d-bifunctional protein deficiency", "multifunctional enzyme deficiency", "peroxisomal multifunctional enzyme (MFE2) deficiency", "peroxisomal multifunctional enzyme deficiency", "pseudo-Zellweger syndrome"], "xref": ["DOID:0090031", "GARD:0004539", "ICD9:277.6", "MEDGEN:137982", "NANDO:1200766", "NCIT:C119676", "OMIM:261515", "Orphanet:300", "SCTID:238068007", "UMLS:C0342870"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.", "id": "MONDO:0009856", "name": "Peters plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters-plus syndrome"], "xref": ["DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD9:743.44", "MEDGEN:163204", "MESH:C537617", "NCIT:C123436", "OMIM:261540", "Orphanet:709", "SCTID:449817000", "UMLS:C0796012"]}
{"category": ["biolink:Disease"], "description": "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.", "id": "MONDO:0009857", "name": "Persistent mullerian duct syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PMDS", "persistent Mullerian derivatives", "persistent Mullerian duct syndrome", "persistent Müllerian derivatives", "persistent mullerian duct syndrome, type I", "persistent mullerian duct syndrome, type II"], "xref": ["DOID:0050791", "GARD:0008435", "ICD9:752.89", "MEDGEN:342367", "MESH:C536665", "NCIT:C120188", "OMIM:261550", "Orphanet:2856", "SCTID:702358005", "UMLS:C1849930", "icd11.foundation:697796373"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.", "id": "MONDO:0009858", "name": "Pfeiffer-palm-teller syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer-Palm-Teller syndrome"], "xref": ["GARD:0004305", "MEDGEN:342366", "MESH:C537889", "OMIM:261560", "Orphanet:2871", "SCTID:726672000", "UMLS:C1849929"]}
{"category": ["biolink:Disease"], "description": "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.", "id": "MONDO:0009859", "name": "Phaver syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHAVER syndrome", "Powell-Chandra-Saal syndrome"], "xref": ["GARD:0004465", "MEDGEN:376670", "MESH:C538357", "OMIM:261575", "Orphanet:2876", "SCTID:723453002", "UMLS:C1849928"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009860", "name": "Phenformin 4-hydroxylation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phenformin 4-hydroxylation"], "xref": ["MEDGEN:342365", "OMIM:261590", "UMLS:C1849927"]}
{"category": ["biolink:Disease"], "description": "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.", "id": "MONDO:0009861", "name": "Phenylketonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAH deficiency", "PKU", "hyperphenylalaninemia, non-PKU mild", "phenylalanine hydroxylase deficiency", "phenylketonuria"], "xref": ["DOID:9281", "GARD:0007383", "ICD9:270.1", "MEDGEN:19244", "MESH:D010661", "MedDRA:10034872", "NANDO:1200784", "NANDO:1200785", "NANDO:2200467", "NANDO:2201075", "NCIT:C81315", "NORD:1574", "OMIM:261600", "Orphanet:716", "SCTID:7573000", "UMLS:C0031485", "icd11.foundation:444122923"]}
{"category": ["biolink:Disease"], "description": "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.", "id": "MONDO:0009862", "name": "Dihydropteridine reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["6,7-dihydropteridine reductase activity disease", "PKU type 2", "dihydropteridine reductase deficiency", "disorder of 6,7-dihydropteridine reductase activity", "hyperphenylalaninemia due to dihydropteridine reductase deficiency", "hyperphenylalaninemia, BH4-deficient C", "hyperphenylalaninemia, Bh4-deficient, type C", "phenylketonuria type 2"], "xref": ["DOID:0081130", "GARD:0004319", "MEDGEN:75682", "NCIT:C138173", "OMIM:261630", "Orphanet:226", "SCTID:58256000", "UMLS:C0268465", "icd11.foundation:1931239861"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.", "id": "MONDO:0009863", "name": "Bh4-deficient hyperphenylalaninemia a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["6-pyruvoyl tetrahydropterin synthase deficiency", "6-pyruvoyl-tetrahydropterin synthase deficiency", "BH4-deficient hyperphenylalaninemia A", "Bh4-deficient hyperphenylalaninemia type A", "HPABH4A", "PTS deficiency", "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency", "hyperphenylalaninemia, BH4-deficient A", "hyperphenylalaninemia, Bh4-deficient, type a"], "xref": ["DOID:0090106", "GARD:0005682", "MEDGEN:209234", "MESH:C535325", "NCIT:C138171", "OMIM:261640", "Orphanet:13", "SCTID:237914002", "UMLS:C0878676"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009864", "name": "Phosphoenolpyruvate carboxykinase deficiency, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEPCK deficiency, mitochondrial", "phosphoenolpyruvate carboxykinase deficiency, mitochondrial"], "xref": ["GARD:0004279", "MEDGEN:376665", "MESH:C564890", "OMIM:261650", "Orphanet:79317", "UMLS:C1849821"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.", "id": "MONDO:0009865", "name": "Glycogen storage disease due to phosphoglycerate mutase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to phosphoglycerate mutase deficiency", "GSD type 10", "PGAM2 glycogen storage disease", "glycogen storage disease caused by mutation in PGAM2", "glycogen storage disease type 10", "glycogenosis due to phosphoglycerate mutase deficiency", "muscle phosphoglycerate mutase deficiency", "myopathy due to phosphoglycerate mutase deficiency"], "xref": ["GARD:0009964", "MEDGEN:120613", "MESH:C536176", "NANDO:1200832", "NCIT:C131647", "OMIM:261670", "Orphanet:97234", "SCTID:61772003", "UMLS:C0268149"]}
{"category": ["biolink:Disease"], "description": "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).", "id": "MONDO:0009866", "name": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["phosphoenolpyruvate carboxykinase deficiency, cytosolic"], "xref": ["GARD:0004278", "MEDGEN:1801754", "OMIM:261680", "Orphanet:79316", "UMLS:C5574905"]}
{"category": ["biolink:Disease"], "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.", "id": "MONDO:0009867", "name": "Lethal congenital glycogen storage disease of heart", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRKAG2 glycogen storage disease", "fatal congenital hypertrophic cardiomyopathy due to GSD", "fatal congenital hypertrophic cardiomyopathy due to glycogenosis", "glycogen storage disease caused by mutation in PRKAG2", "phosphorylase kinase deficiency of heart"], "xref": ["DOID:0090101", "GARD:0010728", "MEDGEN:337919", "MESH:C564888", "OMIM:261740", "Orphanet:439854", "UMLS:C1849813"]}
{"category": ["biolink:Disease"], "description": "A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.", "id": "MONDO:0009868", "name": "Glycogen storage disease ixb", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD IXb", "GSD due to liver and muscle phosphorylase kinase deficiency", "GSD type 9B", "GSD type IXb", "GSD9B", "PHKB glycogen storage disease", "PHKB-related glycogen storage disease type IX", "glycogen storage disease 9B", "glycogen storage disease IXb", "glycogen storage disease caused by mutation in PHKB", "glycogen storage disease type 9B", "glycogen storage disease type IXb", "glycogenosis due to liver and muscle phosphorylase kinase deficiency", "glycogenosis type 9B", "glycogenosis type IXb"], "xref": ["DOID:0111041", "GARD:0016711", "MEDGEN:107772", "MESH:C563008", "NANDO:1200848", "NANDO:2201165", "OMIM:261750", "Orphanet:79240", "UMLS:C0543514"]}
{"category": ["biolink:Disease"], "description": "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.", "id": "MONDO:0009869", "name": "Isolated pierre-robin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pierre Robin Sequence", "isolated Pierre Robin sequence"], "xref": ["GARD:0004347", "MEDGEN:19310", "MESH:D010855", "NCIT:C85010", "NORD:1579", "OMIM:261800", "Orphanet:718", "SCTID:4602007", "UMLS:C0031900", "icd11.foundation:136361299"]}
{"category": ["biolink:Disease"], "description": "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.", "id": "MONDO:0009870", "name": "Pili torti", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pili torti", "pili torti (disease)", "twisted hair"], "xref": ["GARD:0004361", "HP:0003777", "MEDGEN:82670", "MESH:C562485", "OMIM:261900", "Orphanet:2889", "SCTID:17170005", "UMLS:C0263491", "icd11.foundation:813238041"]}
{"category": ["biolink:Disease"], "description": "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.", "id": "MONDO:0009871", "name": "Pili torti-developmental delay-neurological abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["abnormal hair, joint laxity, and developmental delay"], "xref": ["GARD:0004362", "MEDGEN:342358", "MESH:C537398", "OMIM:261990", "Orphanet:2891", "UMLS:C1849811"]}
{"category": ["biolink:Disease"], "description": "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.", "id": "MONDO:0009872", "name": "Bjornstad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bjornstad syndrome", "Björnstad Syndrome", "deafness-pili torti-hypogonadism syndrome"], "xref": ["DOID:0050677", "GARD:0000022", "MEDGEN:82728", "MESH:C537633", "NORD:859", "OMIM:262000", "Orphanet:123", "UMLS:C0266006"]}
{"category": ["biolink:Disease"], "description": "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0009873", "name": "Pilodental dysplasia-refractive errors syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Euhidrotic ectodermal dysplasia", "Kopysc-Barczyk-Krol syndrome"], "xref": ["GARD:0000277", "MEDGEN:376661", "MESH:C535763", "OMIM:262020", "Orphanet:2892", "UMLS:C1849805"]}
{"category": ["biolink:Disease"], "description": "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).", "id": "MONDO:0009874", "name": "Rabson-mendenhall syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rabson-Mendenhall syndrome"], "xref": ["GARD:0000226", "ICD9:259.8", "MEDGEN:78783", "NCIT:C131000", "NORD:1645", "OMIM:262190", "Orphanet:769", "SCTID:33559001", "UMLS:C0271695", "icd11.foundation:1018973126"]}
{"category": ["biolink:Disease"], "description": "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.", "id": "MONDO:0009875", "name": "Achromatopsia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACHM3", "CNGB3 achromatopsia", "achromatopsia 3", "achromatopsia caused by mutation in CNGB3", "achromatopsia type 3"], "xref": ["DOID:0110008", "GARD:0009650", "MEDGEN:340413", "OMIM:262300", "UMLS:C1849792"]}
{"category": ["biolink:Disease"], "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.", "id": "MONDO:0009876", "name": "Isolated growth hormone deficiency type ia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Illig-type growth hormone deficiency", "congenital IGHD type IA", "congenital isolated GH deficiency type IA", "congenital isolated growth hormone deficiency type IA", "growth hormone deficiency, isolated, type IA", "isolated growth hormone deficiency type IA", "primordial dwarfism", "sexual ateleiotic dwarfism"], "xref": ["DOID:0060873", "GARD:0007399", "ICD9:259.4", "MEDGEN:90986", "MESH:C537404", "OMIM:262400", "Orphanet:231662", "SCTID:237837007", "UMLS:C0342573"]}
{"category": ["biolink:Disease"], "description": "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.", "id": "MONDO:0009877", "name": "Laron syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GH receptor deficiency", "Growth Hormone Insensitivity", "Growth hormone receptor deficiency", "Laron syndrome", "Laron-type dwarfism", "complete growth hormone insensitivity", "primary GH insensitivity", "primary GH resistance", "primary growth hormone insensitivity", "primary growth hormone resistance", "short stature due to growth hormone resistance"], "xref": ["DOID:9521", "GARD:0006859", "MEDGEN:78776", "MESH:D046150", "NCIT:C130994", "NORD:1209", "OMIM:262500", "Orphanet:633", "SCTID:38196001", "UMLS:C0271568"]}
{"category": ["biolink:Disease"], "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.", "id": "MONDO:0009878", "name": "Pituitary hormone deficiency, combined, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PROP1 combined pituitary hormone deficiencies, genetic form", "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1", "pituitary hormone deficiency, combined, 2", "pituitary hormone deficiency, combined, type 2"], "xref": ["DOID:0061020", "GARD:0015222", "MEDGEN:209236", "MESH:C563172", "OMIM:262600", "UMLS:C0878683"]}
{"category": ["biolink:Disease"], "description": "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.", "id": "MONDO:0009879", "name": "Short stature due to growth hormone qualitative anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Kowarski syndrome"], "xref": ["GARD:0000408", "MEDGEN:340412", "MESH:C537505", "OMIM:262650", "Orphanet:629", "UMLS:C1849779", "icd11.foundation:1665498704"]}
{"category": ["biolink:Disease"], "description": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).", "id": "MONDO:0009880", "name": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pituitary hormone deficiency, combined, type 4"], "xref": ["DOID:0061017", "GARD:0010604", "MEDGEN:394816", "MESH:C567492", "OMIM:262700", "Orphanet:85442", "UMLS:C2678408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009881", "name": "Pituitary dwarfism with large sella turcica", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pituitary dwarfism with large sella turcica"], "xref": ["ICD9:253.8", "MEDGEN:78778", "MESH:C562705", "OMIM:262710", "SCTID:27270004", "UMLS:C0271575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009882", "name": "Plasma clot retraction factor, deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["plasma clot retraction factor, deficiency of"], "xref": ["MEDGEN:376656", "MESH:C564885", "OMIM:262800", "UMLS:C1849778"]}
{"category": ["biolink:Disease"], "description": "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.", "id": "MONDO:0009883", "name": "Alpha-2-plasmin inhibitor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alpha-2-plasmin inhibitor deficiency", "plasmin inhibitor deficiency"], "xref": ["DOID:0060601", "GARD:0000731", "MEDGEN:414178", "MESH:C537777", "NANDO:2200687", "OMIM:262850", "Orphanet:79", "SCTID:716746003", "UMLS:C2752081", "icd11.foundation:688627594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009884", "name": "Platelet prostacyclin receptor defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet prostacyclin receptor defect"], "xref": ["MEDGEN:337912", "MESH:C564884", "OMIM:262875", "UMLS:C1849774"]}
{"category": ["biolink:Disease"], "description": "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.", "id": "MONDO:0009885", "name": "Scott syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT7", "SCTS", "Scott syndrome", "prothrombin consumption deficiency"], "xref": ["DOID:0111052", "GARD:0004777", "MEDGEN:167107", "MESH:C563120", "NANDO:2200671", "OMIM:262890", "Orphanet:806", "SCTID:128098009", "UMLS:C0796149", "icd11.foundation:186013982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009886", "name": "Pleoconial myopathy with salt craving", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pleoconial myopathy with salt craving"], "xref": ["MEDGEN:337911", "MESH:C564883", "OMIM:262900", "UMLS:C1849773"]}
{"category": ["biolink:Disease"], "description": "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.", "id": "MONDO:0009887", "name": "Desquamative interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RBILD", "desquamative interstitial pneumonia", "respiratory bronchiolitis interstitial lung disease"], "xref": ["DOID:0050158", "GARD:0016864", "ICD10CM:J84.117", "ICD9:516.34", "ICD9:516.37", "MEDGEN:65962", "MESH:C562470", "NANDO:1200422", "NANDO:1200423", "NCIT:C35288", "OMIM:263000", "Orphanet:98852", "SCTID:8549006", "UMLS:C0238378", "icd11.foundation:1620001155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009888", "name": "Polycystic kidney, cataract, and congenital blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polycystic kidney, cataract, and congenital blindness"], "xref": ["MEDGEN:337910", "MESH:C564882", "OMIM:263100", "UMLS:C1849771"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.", "id": "MONDO:0009889", "name": "Autosomal recessive polycystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-PKD", "ARPKD", "autosomal recessive polycystic kidney", "polycystic kidney disease, autosomal recessive", "polycystic kidney disease, infantile type"], "xref": ["DOID:0110861", "GARD:0008378", "ICD9:753.14", "MEDGEN:39076", "MedDRA:10036047", "NANDO:1200369", "NANDO:2200154", "NCIT:C84579", "NORD:831", "Orphanet:731", "SCTID:28770003", "UMLS:C0085548", "icd11.foundation:1424110943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009890", "name": "Gillessen-kaesbach-nishimura syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Gillessen-Kaesbach-Nishimura syndrome"], "xref": ["GARD:0015223", "MEDGEN:376653", "MESH:C564881", "OMIM:263210", "UMLS:C1849762"]}
{"category": ["biolink:Disease"], "description": "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.", "id": "MONDO:0009891", "name": "Acquired polycythemia vera", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Osler-Vaquez disease", "PV", "Vaquez disease", "acquired primary erythrocytosis", "polycythaemia rubra vera", "polycythemia rubra vera", "polycythemia vera", "polycythemia vera, somatic"], "xref": ["DOID:8997", "EFO:0002429", "GARD:0007422", "ICD10CM:D45", "ICD9:238.4", "ICDO:9950/3", "MEDGEN:45996", "MESH:D011087", "MedDRA:10036057", "NANDO:2100186", "NANDO:2200643", "NCIT:C3336", "OMIM:263300", "ONCOTREE:PV", "Orphanet:729", "UMLS:C0032463", "icd11.foundation:818364947"]}
{"category": ["biolink:Disease"], "description": "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.", "id": "MONDO:0009892", "name": "Chuvash polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chuvash polycythemia", "VHL familial polycythemia", "Von Hippel-Lindau-dependent polycythemia", "erythrocytosis, familial, type 2", "familial polycythemia caused by mutation in VHL"], "xref": ["DOID:0060474", "GARD:0017176", "MEDGEN:332974", "MESH:C563918", "OMIM:263400", "Orphanet:238557", "UMLS:C1837915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009893", "name": "Polydactyly, postaxial, type a5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A5"], "xref": ["GARD:0018172", "MEDGEN:763575", "OMIM:263450", "UMLS:C3550661"]}
{"category": ["biolink:Disease"], "description": "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.", "id": "MONDO:0009894", "name": "Short-rib thoracic dysplasia 6 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Majewski syndrome", "SRPS2A", "SRTD6", "polydactyly with neonatal chondrodystrophy type II", "short rib-polydactyly syndrome type II", "short-rib thoracic dysplasia 6 with or without polydactyly"], "xref": ["DOID:0110092", "GARD:0015224", "MEDGEN:44252", "NCIT:C122654", "OMIM:263520", "UMLS:C0024507"]}
{"category": ["biolink:Disease"], "description": "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.", "id": "MONDO:0009895", "name": "Postaxial polydactyly-dental and vertebral anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016614", "MEDGEN:342342", "MESH:C564880", "OMIM:263540", "Orphanet:2916", "UMLS:C1849732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009896", "name": "Polymyoclonus, infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polymyoclonus, infantile"], "xref": ["MEDGEN:376647", "MESH:C535524", "OMIM:263550", "UMLS:C1849731"]}
{"category": ["biolink:Disease"], "description": "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.", "id": "MONDO:0009897", "name": "Adult polyglucosan body disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["APBD"], "xref": ["GARD:0000108", "MEDGEN:342338", "MESH:C564878", "NANDO:2201163", "NORD:1591", "OMIM:263570", "Orphanet:206583", "SCTID:721099001", "UMLS:C1849722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009898", "name": "Polysaccharide, storage of unusual", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polysaccharide, storage of unusual"], "xref": ["MEDGEN:376645", "MESH:C564877", "OMIM:263600", "UMLS:C1849721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009899", "name": "Polyhydramnios, chronic idiopathic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyhydramnios, chronic idiopathic"], "xref": ["MEDGEN:340402", "MESH:C564876", "OMIM:263610", "UMLS:C1849720"]}
{"category": ["biolink:Disease"], "description": "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).", "id": "MONDO:0009900", "name": "Polysyndactyly-cardiac malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bonneau syndrome"], "xref": ["GARD:0004428", "MEDGEN:337895", "MESH:C564875", "OMIM:263630", "Orphanet:2934", "SCTID:724066002", "UMLS:C1849719"]}
{"category": ["biolink:Disease"], "description": "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.", "id": "MONDO:0009901", "name": "Bartsocas-papas syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bartsocas Papas syndrome", "Bartsocas-Papas syndrome", "autosomal recessive popliteal pterygium syndrome", "lethal popliteal pterygium syndrome", "popliteal pterygium syndrome, Bartsocas-Papas type 1", "popliteal pterygium syndrome, lethal type"], "xref": ["GARD:0004436", "MEDGEN:337894", "MESH:C564874", "NCIT:C168990", "OMIM:263650", "Orphanet:1234", "SCTID:722376008", "UMLS:C1849718"]}
{"category": ["biolink:Disease"], "description": "An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to 5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.", "id": "MONDO:0009902", "name": "Cutaneous porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CEP", "Congenital Erythropoietic Porphyria", "Günther disease", "UROS-related erythropoietic porphyria", "cutaneous porphyria", "erythropoietic porphyria"], "xref": ["DOID:13271", "GARD:0004446", "MEDGEN:1861084", "MESH:D017092", "NANDO:1200817", "NANDO:2201268", "NCIT:C84697", "NORD:1599", "OMIM:263700", "Orphanet:79277", "SCTID:67312003", "UMLS:C5886774"]}
{"category": ["biolink:Disease"], "description": "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.", "id": "MONDO:0009903", "name": "Postaxial acrofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Miller Syndrome", "Miller syndrome", "POADS", "postaxial acrodysostosis", "postaxial acrofacial dysostosis"], "xref": ["DOID:0111259", "GARD:0008410", "ICD9:759.89", "MEDGEN:120522", "MESH:C537680", "NORD:1448", "OMIM:263750", "Orphanet:246", "SCTID:66038001", "UMLS:C0265257", "icd11.foundation:70602060"]}
{"category": ["biolink:Disease"], "description": "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.", "id": "MONDO:0009904", "name": "Gitelman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gitelman syndrome", "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"], "xref": ["DOID:0050450", "GARD:0008547", "ICD9:275.49", "MEDGEN:75681", "MESH:D053579", "MedDRA:10062906", "NANDO:2100020", "NANDO:2200145", "NCIT:C84730", "NORD:1884", "OMIM:263800", "Orphanet:358", "SCTID:707756004", "UMLS:C0268450"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.", "id": "MONDO:0009905", "name": "Urban-rogers-meyer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Prader-Willi habitus-osteopenia-camptodactyly syndrome", "intellectual disability-short stature-hand contractures-genital anomalies syndrome", "urban-Rogers-Meyer syndrome"], "xref": ["GARD:0005426", "MEDGEN:162919", "MESH:C538276", "OMIM:264010", "Orphanet:3409", "SCTID:716334004", "UMLS:C0796189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009906", "name": "Prenatal bowing", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["prenatal bowing"], "xref": ["GARD:0015225", "MEDGEN:337891", "MESH:C564873", "OMIM:264050", "UMLS:C1849701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009907", "name": "Prepapillary vascular loops", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Prepapillary vascular loops"], "xref": ["MEDGEN:316814", "MESH:C563287", "OMIM:264060", "SCTID:424728002", "UMLS:C1828066"]}
{"category": ["biolink:Disease"], "description": "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.", "id": "MONDO:0009908", "name": "Pterin-4 alpha-carbinolamine dehydratase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CADH deficiency", "PCBD deficiency", "PCBD1 deficiency", "PCD deficiency", "dehydratase deficiency", "hyperphenylalaninemia due to dehydratase deficiency", "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency", "hyperphenylalaninemia with primapterinuria", "hyperphenylalaninemia, Bh4-deficient, type D", "pterin-4 alpha-carbinolamine dehydratase 1 deficiency"], "xref": ["DOID:0081131", "GARD:0002843", "ICD9:277.6", "MEDGEN:337890", "MESH:C538382", "OMIM:264070", "Orphanet:1578", "SCTID:124646004", "UMLS:C1849700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009909", "name": "Progesterone resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["progesterone resistance"], "xref": ["MEDGEN:337889", "MESH:C564871", "OMIM:264080", "UMLS:C1849699"]}
{"category": ["biolink:Disease"], "description": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.", "id": "MONDO:0009910", "name": "Wiedemann-rautenstrauch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wiedemann Rautenstrauch Syndrome", "Wiedemann-Rautenstrauch syndrome", "neonatal progeroid syndrome"], "xref": ["DOID:0081333", "GARD:0000330", "ICD9:259.8", "MEDGEN:140806", "MESH:C536423", "NCIT:C121565", "NORD:1852", "OMIM:264090", "Orphanet:3455", "SCTID:238874008", "UMLS:C0406586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009911", "name": "Prolactin deficiency, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["prolactin deficiency, isolated"], "xref": ["ICD9:253.4", "MEDGEN:75758", "MESH:C562708", "OMIM:264110", "SCTID:67873006", "UMLS:C0271586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009912", "name": "Prolactin deficiency with obesity and enlarged testes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["prolactin deficiency with obesity and enlarged testes"], "xref": ["MEDGEN:341515", "MESH:C564870", "OMIM:264120", "UMLS:C1849698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009913", "name": "Prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness", "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness"], "xref": ["MEDGEN:96043", "MESH:C562894", "OMIM:264140", "SCTID:236529001", "UMLS:C0403551"]}
{"category": ["biolink:Disease"], "description": "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.", "id": "MONDO:0009914", "name": "Pseudodiastrophic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pseudodiastrophic dysplasia"], "xref": ["GARD:0009463", "ICD9:756.9", "MEDGEN:140924", "MESH:C535826", "OMIM:264180", "Orphanet:85174", "SCTID:254058002", "UMLS:C0432206", "icd11.foundation:902021042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009915", "name": "46,xx disorder of sex development-skeletal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["female pseudohermaphroditism-skeletal anomalies syndrome"], "xref": ["GARD:0016617", "MEDGEN:341514", "MESH:C564869", "OMIM:264270", "Orphanet:2975", "UMLS:C1849696"]}
{"category": ["biolink:Disease"], "description": "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.", "id": "MONDO:0009916", "name": "46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17 Beta HSD3 deficiency", "17 beta HSD3 deficiency", "17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17-ketoreductase deficiency", "17-ketosteroidreductase deficiency", "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"], "xref": ["DOID:0112248", "GARD:0005659", "MEDGEN:120626", "MESH:C537805", "MESH:C564868", "NANDO:2200390", "NCIT:C120203", "OMIM:264300", "Orphanet:752", "SCTID:50658006", "UMLS:C0268296", "icd11.foundation:887793448"]}
{"category": ["biolink:Disease"], "description": "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.", "id": "MONDO:0009917", "name": "Pseudohypoaldosteronism, type ib1, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHA1B", "autosomal recessive PHA 1", "autosomal recessive pseudohypoaldosteronism type 1", "generalised PHA1", "generalised pseudohypoaldosteronism type 1", "generalized PHA1", "generalized pseudohypoaldosteronism type 1"], "xref": ["GARD:0004552", "MEDGEN:1823950", "OMIM:264350", "Orphanet:171876", "UMLS:C5774176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009918", "name": "Fundus dystrophy, pseudoinflammatory, recessive form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fundus dystrophy, pseudoinflammatory, recessive form"], "xref": ["GARD:0009633", "MEDGEN:337888", "MESH:C535828", "OMIM:264420", "UMLS:C1849694"]}
{"category": ["biolink:Disease"], "description": "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.", "id": "MONDO:0009919", "name": "Peroxisomal acyl-coa oxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACOX1 deficiency", "Pseudoadrenoleukodystrophy", "peroxisomal acyl-CoA oxidase deficiency", "pseudo-NALD", "pseudo-neonatal adrenoleukodystrophy"], "xref": ["DOID:0050797", "GARD:0004543", "ICD9:255.41", "MEDGEN:376636", "MESH:C536662", "NANDO:1200765", "NCIT:C170437", "OMIM:264470", "Orphanet:2971", "SCTID:238069004", "UMLS:C1849678", "icd11.foundation:927825451"]}
{"category": ["biolink:Disease"], "description": "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.", "id": "MONDO:0009920", "name": "Acrootoocular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acrootoocular syndrome", "pseudopapilledema-blepharophimosis-hand anomalies syndrome"], "xref": ["GARD:0004559", "MEDGEN:337882", "MESH:C564866", "OMIM:264475", "Orphanet:2980", "SCTID:720410001", "UMLS:C1849661"]}
{"category": ["biolink:Disease"], "description": "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.", "id": "MONDO:0009921", "name": "Holoprosencephaly-postaxial polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pseudo-trisomy 13 syndrome"], "xref": ["GARD:0000344", "MEDGEN:340382", "MESH:C535829", "NCIT:C125418", "OMIM:264480", "Orphanet:2166", "SCTID:716091000", "UMLS:C1849649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009922", "name": "Pseudouridinuria and mental defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pseudouridinuria and mental defect"], "xref": ["MEDGEN:376629", "MESH:C564864", "OMIM:264500", "UMLS:C1849648"]}
{"category": ["biolink:Disease"], "description": "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.", "id": "MONDO:0009923", "name": "46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency", "46,XY DSD due to 5-alpha-reductase 2 deficiency", "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "5 Alpha steroid reductase 2 deficiency", "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency", "pseudovaginal perineoscrotal hypospadias", "steroid 5-alpha-reductase deficiency"], "xref": ["GARD:0005680", "MEDGEN:75667", "MESH:C535830", "MedDRA:10000029", "NANDO:2200389", "NCIT:C98699", "OMIM:264600", "Orphanet:753", "SCTID:57514000", "UMLS:C0268297", "icd11.foundation:1028755501"]}
{"category": ["biolink:Disease"], "description": "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.", "id": "MONDO:0009924", "name": "Vitamin d-dependent rickets, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1 Alpha-hydroxylase deficiency", "1-alpha-hydroxylase deficiency", "PDDRI", "VDDI", "VDDR-I", "VDDR1", "hypocalcemic vitamin D-dependent rickets", "pseudo vitamin-D deficient rickets", "pseudovitamin D-deficient rickets", "selective 1-alpha, 25-hydroxyvitamin D3 deficiency", "vitamin D 1 Alpha-Hydroxylase deficiency", "vitamin D dependent rickets type I", "vitamin D-dependency type I", "vitamin D-dependent rickets type 1"], "xref": ["GARD:0017319", "MEDGEN:124344", "MESH:C562688", "NANDO:1200782", "NCIT:C131073", "Orphanet:289157", "SCTID:67049004", "UMLS:C0268689", "icd11.foundation:1270705227"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of PXE.", "id": "MONDO:0009925", "name": "Autosomal recessive inherited pseudoxanthoma elasticum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR inherited pseudoxanthoma elasticum", "Gronblad-Strandberg syndrome", "Gronblad-Strandberg-Touraine syndrome"], "xref": ["DOID:2738", "GARD:0024699", "ICD9:757.39", "MESH:D011561", "MedDRA:10037150", "NCIT:C85036", "NORD:1629", "OMIM:264800", "Orphanet:758", "SCTID:402782006", "SCTID:72744008", "icd11.foundation:1516160852"]}
{"category": ["biolink:Disease"], "description": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.", "id": "MONDO:0009926", "name": "Autosomal recessive multiple pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EVMPS", "Escobar syndrome", "Escobar variant multiple pterygium syndrome", "autosomal recessive multiple pterygium syndrome", "autosomal recessive non-lethal multiple pterygium syndrome", "multiple pterygium syndrome, autosomal recessive"], "xref": ["GARD:0007111", "ICD9:759.89", "MEDGEN:82696", "NCIT:C101039", "OMIM:265000", "Orphanet:2990", "SCTID:80773006", "UMLS:C0265261", "icd11.foundation:1502158121"]}
{"category": ["biolink:Disease"], "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.", "id": "MONDO:0009927", "name": "3mc syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["3MC syndrome 2", "3MC syndrome caused by mutation in COLEC11", "3MC syndrome type 2", "3Mc syndrome type 2", "COLEC11 3MC syndrome"], "xref": ["DOID:0060576", "EFO:1001977", "GARD:0018428", "MEDGEN:167115", "MESH:C535586", "OMIM:265050", "Orphanet:2998", "UMLS:C0796279"]}
{"category": ["biolink:Disease"], "description": "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.", "id": "MONDO:0009928", "name": "Pulmonary alveolar microlithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pulmonary alveolar microlithiasis"], "xref": ["DOID:12117", "GARD:0011894", "ICD10CM:J84.02", "ICD9:516.2", "MEDGEN:56374", "MESH:C562405", "MedDRA:10037315", "NANDO:2200202", "OMIM:265100", "Orphanet:60025", "SCTID:87153008", "UMLS:C0155912", "icd11.foundation:1220010076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009929", "name": "Surfactant metabolism dysfunction, pulmonary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMDP1", "interstitial lung disease due to SP-B dysfunction", "interstitial lung disease due to surfactant Protein B deficiency", "neonatal acute respiratory distress due to SP-B deficiency", "neonatal acute respiratory distress due to surfactant protein B deficiency", "pulmonary alveolar proteinosis, congenital, 1", "surfactant metabolism dysfunction, pulmonary, 1", "surfactant metabolism dysfunction, pulmonary, type 1"], "xref": ["GARD:0017126", "MEDGEN:368844", "MESH:C566882", "OMIM:265120", "Orphanet:217563", "UMLS:C1968602"]}
{"category": ["biolink:Disease"], "description": "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.", "id": "MONDO:0009931", "name": "Pulmonary atresia-intact ventricular septum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pulmonary valve atresia with intact ventricular septum"], "xref": ["GARD:0004600", "MEDGEN:87491", "MESH:C562832", "NANDO:1200707", "NANDO:2200253", "NCIT:C99032", "OMIM:265150", "Orphanet:1208", "SCTID:253590009", "UMLS:C0344975", "icd11.foundation:131289265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009932", "name": "Pulmonary bullae causing pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonary bullae causing pneumothorax"], "xref": ["MEDGEN:337856", "MESH:C564863", "OMIM:265200", "UMLS:C1849566"]}
{"category": ["biolink:Disease"], "description": "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.", "id": "MONDO:0009933", "name": "Congenital pulmonary lymphangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Diffuse Pulmonary Lymphangiomatosis", "congenital pulmonary lymphangiectasis", "pulmonary lymphangiomatosis"], "xref": ["GARD:0009900", "MEDGEN:340355", "MESH:C537727", "NCIT:C99034", "NORD:1054", "OMIM:265300", "Orphanet:2414", "SCTID:45142002", "UMLS:C1849554", "icd11.foundation:2069435755"]}
{"category": ["biolink:Disease"], "description": "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.", "id": "MONDO:0009934", "name": "Alveolar capillary dysplasia with misalignment of pulmonary veins", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACDMPV", "alveolar capillary dysplasia", "alveolar capillary dysplasia with misalignment of pulmonary veins", "alveolar capillary dysplasia with misalignment of pulmonary vessels", "congenital alveolar capillary dysplasia", "foetal circulation"], "xref": ["DOID:13042", "GARD:0008644", "ICD9:747.49", "ICD9:747.83", "MEDGEN:755478", "MESH:C536590", "MedDRA:10054726", "NCIT:C98809", "NORD:759", "OMIM:265380", "Orphanet:210122", "SCTID:447275002", "UMLS:C2960310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009935", "name": "Pulmonary hypertension, primary, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PPH5", "pulmonary hypertension, primary, 5, autosomal recessive"], "xref": ["GARD:0024700", "MEDGEN:1802382", "MESH:C564862", "OMIM:265400", "UMLS:C5676877"]}
{"category": ["biolink:Disease"], "description": "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.", "id": "MONDO:0009936", "name": "Familial primary pulmonary hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016591", "ICD9:748.5", "MEDGEN:141589", "OMIM:265430", "Orphanet:2257", "SCTID:277656005", "UMLS:C0456891", "icd11.foundation:1778475393"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "id": "MONDO:0009937", "name": "Pulmonary venoocclusive disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["PVOD", "pulmonary capillary hemangiomatosis", "pulmonary veno-occlusive disease"], "xref": ["DOID:5453", "GARD:0010153", "ICD9:416.8", "MEDGEN:18769", "MESH:D011668", "MedDRA:10037458", "NANDO:1200427", "NCIT:C85039", "OMIMPS:265450", "Orphanet:31837", "SCTID:89420002", "UMLS:C0034091", "icd11.foundation:1368993024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009938", "name": "Pulmonic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pulmonary stenosis", "pulmonic stenosis", "pulmonic stenosis (disease)"], "xref": ["GARD:0010071", "HP:0001642", "MEDGEN:408291", "OMIM:265500", "UMLS:C1956257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009939", "name": "Pulmonic stenosis and congenital nephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonic stenosis and congenital nephrosis"], "xref": ["MEDGEN:96044", "MESH:C562895", "OMIM:265600", "SCTID:236530006", "UMLS:C0403552"]}
{"category": ["biolink:Disease"], "description": "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.", "id": "MONDO:0009940", "name": "Pycnodysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pyknodysostosis", "pycnodysostosis"], "xref": ["DOID:0080038", "GARD:0004611", "MEDGEN:116061", "MESH:D058631", "NANDO:2201023", "NCIT:C131187", "NORD:1637", "OMIM:265800", "Orphanet:763", "SCTID:89647000", "UMLS:C0238402", "icd11.foundation:1329974152"]}
{"category": ["biolink:Disease"], "description": "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.", "id": "MONDO:0009942", "name": "Pyknoachondrogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["camera syndrome", "pyknoachondrogenesis"], "xref": ["GARD:0004610", "MEDGEN:337844", "MESH:C536251", "OMIM:265880", "Orphanet:3003", "SCTID:719258003", "UMLS:C1849523", "icd11.foundation:588435239"]}
{"category": ["biolink:Disease"], "description": "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.", "id": "MONDO:0009943", "name": "Pyle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bakwin-Krida syndrome", "Pyle disease", "Pyle's disease", "Pyle's syndrome", "Pyle-Cohn syndrome", "metaphyseal dysplasia Pyle type", "metaphyseal dysplasia, Pyle type"], "xref": ["DOID:0080019", "GARD:0004612", "ICD10CM:Q78.5", "ICD9:758.5", "MEDGEN:82704", "MESH:C536252", "NANDO:2201367", "OMIM:265900", "Orphanet:3005", "SCTID:27837003", "UMLS:C0265294", "icd11.foundation:651364947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009944", "name": "Pyloric atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pyloric atresia"], "xref": ["ICD9:750.7", "MEDGEN:75601", "MESH:C562561", "OMIM:265950", "SCTID:27729002", "UMLS:C0266159"]}
{"category": ["biolink:Disease"], "description": "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).", "id": "MONDO:0009945", "name": "Pyridoxine-dependent epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["antiquitin deficiency", "pyridoxine-dependent epilepsy", "vitamin B6-dependent seizures"], "xref": ["DOID:0080768", "GARD:0009298", "MEDGEN:340341", "MESH:C536254", "NORD:1639", "Orphanet:3006", "SCTID:734434007", "UMLS:C1849508"]}
{"category": ["biolink:Disease"], "description": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.", "id": "MONDO:0009946", "name": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["P5N deficiency", "UMPH1 deficiency", "anemia, congenital, nonspherocytic hemolytic, 8", "anemia, hemolytic, due to UMPH1 deficiency", "hemolytic anemia due to P5N deficiency", "hemolytic anemia due to UMPH1 deficiency", "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to", "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to", "uridine 5'-monophosphate hydrolase deficiency", "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to", "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to"], "xref": ["DOID:0051007", "GARD:0016635", "MEDGEN:341470", "MESH:C564859", "OMIM:266120", "Orphanet:35120", "UMLS:C1849507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009947", "name": "Glutathione synthetase deficiency with 5-oxoprolinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081034", "GARD:0017330", "ICD9:270.8", "MEDGEN:97988", "OMIM:266130", "Orphanet:289846", "SCTID:39112005", "UMLS:C0398746", "icd11.foundation:2005562438"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.", "id": "MONDO:0009948", "name": "Pyropoikilocytosis, hereditary", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["pyropoikilocytosis", "pyropoikilocytosis, hereditary"], "xref": ["DOID:0061026", "GARD:0004619", "ICD9:790.09", "MEDGEN:141708", "MESH:C563004", "NANDO:2200631", "NCIT:C98943", "NORD:1276", "OMIM:266140", "Orphanet:98867", "SCTID:9434008", "UMLS:C0520739"]}
{"category": ["biolink:Disease"], "description": "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.", "id": "MONDO:0009949", "name": "Pyruvate carboxylase deficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency", "Leigh syndrome due to PC deficiency", "Leigh syndrome due to pyruvate carboxylase deficiency", "ataxia with lactic acidosis type 2", "ataxia with lactic acidosis type II", "pyruvate carboxylase deficiency disease"], "xref": ["DOID:3651", "EFO:1001142", "GARD:0007512", "ICD9:277.89", "MEDGEN:18801", "MESH:D015324", "NANDO:2200519", "NCIT:C85040", "OMIM:266150", "Orphanet:3008", "SCTID:87694001", "UMLS:C0034341", "icd11.foundation:2047948460"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.", "id": "MONDO:0009950", "name": "Pyruvate kinase deficiency of red cells", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PK deficiency", "Pyruvate Kinase Deficiency", "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient", "hemolytic anaemia due to pyruvate Kinase deficiency", "hemolytic anaemia due to red cell pyruvate kinase deficiency", "hemolytic anemia due to pyruvate Kinase deficiency", "hemolytic anemia due to red cell pyruvate kinase deficiency", "pyruvate kinase deficiency", "pyruvate kinase deficiency of erythrocyte", "pyruvate kinase deficiency of erythrocytes", "pyruvate kinase deficiency of red cells"], "xref": ["DOID:0111077", "GARD:0007514", "MEDGEN:473069", "MESH:C564858", "NANDO:2200628", "NCIT:C99037", "NORD:1642", "OMIM:266200", "Orphanet:766", "SCTID:124331002", "UMLS:C0340968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009951", "name": "Radiculoneuropathy, fatal neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Radiculoneuropathy, fatal neonatal"], "xref": ["MEDGEN:376592", "MESH:C564857", "OMIM:266250", "UMLS:C1849471"]}
{"category": ["biolink:Disease"], "description": "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).", "id": "MONDO:0009952", "name": "Radioulnar synostosis-developmental delay-hypotonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Der Kaloustian-McIntosh-Silver syndrome", "radioulnar synostosis with developmental delay and hypotonia syndrome"], "xref": ["GARD:0001810", "MEDGEN:341460", "MESH:C538217", "MESH:C564856", "OMIM:266255", "Orphanet:3270", "SCTID:721883006", "UMLS:C1849470"]}
{"category": ["biolink:Disease"], "description": "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.", "id": "MONDO:0009953", "name": "Leukocyte adhesion deficiency type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CDG IIc", "CDG syndrome type IIc", "CDG-IIc", "CDG2C", "CDGIIc", "LAD-II", "LAD2", "RHS", "Rambam-Hasharon syndrome", "SLC35C1-CDG", "lad-II", "lad-type II", "leukocyte adhesion deficiency type 2", "leukocyte adhesion deficiency type II", "leukocyte adhesion deficiency, type II", "sialyl-Lewis X defect"], "xref": ["DOID:0070255", "DOID:0080492", "GARD:0004634", "MEDGEN:96022", "MESH:C535755", "NCIT:C4690", "OMIM:266265", "Orphanet:99843", "SCTID:234583001", "UMLS:C0398739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009954", "name": "Ramon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ramon syndrome", "cherubism-gingival fibromatosis-intellectual disability syndrome"], "xref": ["DOID:0070650", "GARD:0007523", "MEDGEN:208669", "MESH:C535285", "OMIM:266270", "Orphanet:3019", "UMLS:C0796133", "icd11.foundation:122538435"]}
{"category": ["biolink:Disease"], "description": "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.", "id": "MONDO:0009955", "name": "Rapadilino syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["rapadilino syndrome"], "xref": ["DOID:0050774", "GARD:0004637", "ICD9:759.89", "MEDGEN:336602", "MESH:C535288", "NANDO:1201058", "OMIM:266280", "Orphanet:3021", "SCTID:702413000", "UMLS:C1849453", "icd11.foundation:1439614760"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009956", "name": "Red skin pigment anomaly of new guinea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["red skin pigment anomaly of new guinea"], "xref": ["MEDGEN:341457", "MESH:C535515", "OMIM:266350", "UMLS:C1849451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009957", "name": "Reese retinal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Reese retinal dysplasia"], "xref": ["MEDGEN:341456", "MESH:C564854", "OMIM:266400", "UMLS:C1849450"]}
{"category": ["biolink:Disease"], "description": "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.", "id": "MONDO:0009958", "name": "Adult refsum disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HMSN 4", "HMSN type IV", "HSMN IV", "Refsum Disease", "Refsum disease", "Refsum disease, adult, 1", "Refsum disease, classic", "Refsum's disease", "adult Refsum disease", "adult Refsum disease due to PHYH", "classic Refsum disease", "hereditary motor and sensory neuropathy 4", "hereditary motor and sensory neuropathy type 4", "hereditary sensory and motor neuropathy type 4", "heredopathia atactica polyneuritiformis", "hypertrophic neuropathy of Refsum", "phytanic acid oxidase deficiency", "phytanic-CoA hydroxylase deficiency"], "xref": ["DOID:10582", "GARD:0005691", "ICD10CM:G60.1", "ICD9:272.8", "ICD9CM:356.3", "MEDGEN:11161", "MESH:C535517", "MESH:D012035", "MedDRA:10038275", "NANDO:1200769", "NANDO:2200577", "NORD:1654", "OMIM:266500", "OMIM:600964", "Orphanet:773", "SCTID:25362006", "UMLS:C0034960"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.", "id": "MONDO:0009959", "name": "Peroxisome biogenesis disorder type 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["infantile phytanic acid storage disease", "peroxisome biogenesis disorder 3B", "peroxisome biogenesis disorder type 3B"], "xref": ["DOID:0081241", "GARD:0015226", "MEDGEN:763607", "OMIM:266510", "UMLS:C3550693"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.", "id": "MONDO:0009960", "name": "Inflammatory bowel disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Crohn disease-associated growth failure", "IBD1", "NOD2 inflammatory bowel disease", "inflammatory bowel disease (Crohn disease) 1", "inflammatory bowel disease 1", "inflammatory bowel disease 1, Crohn disease", "inflammatory bowel disease caused by mutation in NOD2", "inflammatory bowel disease type 1"], "xref": ["DOID:0110892", "GARD:0009857", "ICD9:555.9", "OMIM:266600", "SCTID:34000006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009961", "name": "Renal and mullerian duct hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["renal and mullerian duct hypoplasia"], "xref": ["MEDGEN:340326", "MESH:C564853", "OMIM:266810", "UMLS:C1849439"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.", "id": "MONDO:0009962", "name": "Senior-loken syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP1 Senior-Loken syndrome", "Senior-Loken syndrome 1", "Senior-Loken syndrome caused by mutation in NPHP1", "Senior-Loken syndrome type 1", "senior-loken syndrome-1"], "xref": ["DOID:0061277", "GARD:0024701", "ICD9:759.89", "MEDGEN:1639722", "OMIM:266900", "SCTID:236531005", "UMLS:C4551559"]}
{"category": ["biolink:Disease"], "description": "Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.", "id": "MONDO:0009963", "name": "Ulbright-hodes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["renal dysplasia-limb defects syndrome", "renal dysplasia-mesomelia-radiohumeral fusion syndrome"], "xref": ["GARD:0005394", "MEDGEN:376585", "MESH:C537754", "OMIM:266910", "Orphanet:3404", "SCTID:719840003", "UMLS:C1849438"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.", "id": "MONDO:0009964", "name": "Short-rib thoracic dysplasia 9 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Conorenal syndrome", "Mainzer Saldino syndrome", "Mainzer-Saldino syndrome", "SRTD9", "Saldino-Mainzer syndrome", "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome", "short-rib thoracic dysplasia 9 with or without polydactyly"], "xref": ["DOID:0110097", "GARD:0015227", "ICD9:759.89", "MEDGEN:341455", "OMIM:266920", "Orphanet:140969", "SCTID:254092004", "UMLS:C1849437"]}
{"category": ["biolink:Disease"], "description": "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.", "id": "MONDO:0009965", "name": "Perlman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Perlman syndrome", "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour", "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour", "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome", "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome", "renal hamartomas, nephroblastomatosis and fetal gigantism", "renal hamartomas, nephroblastomatosis and foetal gigantism"], "xref": ["DOID:0060476", "GARD:0003936", "MEDGEN:162909", "MESH:C536399", "NCIT:C103144", "OMIM:267000", "Orphanet:2849", "SCTID:722231005", "UMLS:C0796113", "icd11.foundation:795682441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009966", "name": "Nphp3-related meckel-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goldston syndrome", "MKS7", "Meckel syndrome type 7", "Meckel-like syndrome type 1", "NPHP3-related Meckel-like syndrome", "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"], "xref": ["DOID:0070121", "GARD:0004665", "MEDGEN:382217", "MESH:C537756", "OMIM:267010", "Orphanet:3032", "PMID:18371931", "UMLS:C2673885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009967", "name": "Renal tubular acidosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RTA, bicarbonate-wasting type", "RTA, dislocation type", "renal tubular acidosis 3", "renal tubular acidosis III"], "xref": ["GARD:0015228", "MEDGEN:336601", "MESH:C537759", "OMIM:267200", "UMLS:C1849435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009968", "name": "Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal renal tubular acidosis 2 with progressive sensorineural hearing loss", "distal renal tubular acidosis co-occurrent with sensorineural deafness", "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss", "renal tubular acidosis, distal, with progressive nerve deafness"], "xref": ["GARD:0015229", "ICD9:389.8", "ICD9:588.89", "MEDGEN:98336", "MESH:C562897", "OMIM:267300", "Orphanet:93611", "SCTID:236532003", "SCTID:722468005", "UMLS:C0403554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009969", "name": "Renal-genital-middle ear anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004664", "MEDGEN:341454", "MESH:C564849", "OMIM:267400", "Orphanet:1092", "UMLS:C1849432"]}
{"category": ["biolink:Disease"], "description": "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.", "id": "MONDO:0009970", "name": "Renal tubular dysgenesis of genetic origin", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["genetic renal tubular dysgenesis", "renal tubular dysgenesis of genetic origin"], "xref": ["GARD:0016854", "MEDGEN:1826125", "OMIM:267430", "Orphanet:97369", "UMLS:C5681536", "icd11.foundation:616055520"]}
{"category": ["biolink:Disease"], "description": "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.", "id": "MONDO:0009971", "name": "Respiratory distress syndrome in premature infants", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["RDS of prematurity", "Respiratory Distress Syndrome, Infant", "respiratory distress syndrome in premature infants"], "xref": ["GARD:0000112", "MEDGEN:368840", "MESH:C566881", "NORD:1659", "OMIM:267450", "Orphanet:70587", "UMLS:C1968593", "icd11.foundation:343716587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009972", "name": "Respiratory underresponsiveness to hypoxia and hypercapnia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["respiratory underresponsiveness to hypoxia and hypercapnia"], "xref": ["MEDGEN:341453", "MESH:C564848", "OMIM:267480", "UMLS:C1849430"]}
{"category": ["biolink:Disease"], "description": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.", "id": "MONDO:0009973", "name": "Reticular dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AK2 deficiency", "De Vaal disease", "SCID with leukopenia", "congenital aleukocytosis", "generalised haematopoietic hypoplasia", "generalized hematopoietic hypoplasia", "reticular dysgenesis", "severe combined immunodeficiency with leukopenia"], "xref": ["DOID:0060020", "GARD:0008625", "MEDGEN:124417", "MESH:C538361", "NANDO:1200322", "NANDO:2200695", "NCIT:C27070", "OMIM:267500", "Orphanet:33355", "SCTID:111584000", "UMLS:C0272167"]}
{"category": ["biolink:Disease"], "description": "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.", "id": "MONDO:0009974", "name": "Familial hemophagocytic lymphohistiocytosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["FHL1", "HLH1", "HPLH1", "familial HLH", "familial hemophagocytic lymphohistiocytosis type 1"], "xref": ["DOID:0110921", "GARD:0006590", "MEDGEN:1642840", "MedDRA:10070904", "NCIT:C61276", "OMIM:267700", "UMLS:C4551514"]}
{"category": ["biolink:Disease"], "description": "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.", "id": "MONDO:0009975", "name": "Reticulum cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reticulum cell sarcoma", "interdigitating cell sarcoma", "large-cell Lymphomas", "reticular cell sarcoma", "reticulosarcoma", "reticulum cell sarcoma", "sarcoma of reticular cell"], "xref": ["DOID:8538", "EFO:0005287", "GARD:0016765", "ICD9:200.0", "ICD9:200.00", "ICD9:200.7", "MEDGEN:44224", "MedDRA:10038804", "NCIT:C27824", "OMIM:267730", "Orphanet:86900", "SCTID:373168002", "UMLS:C0024302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009976", "name": "Retinal degeneration and epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinal degeneration and epilepsy"], "xref": ["MEDGEN:341450", "MESH:C564847", "OMIM:267740", "UMLS:C1849416"]}
{"category": ["biolink:Disease"], "description": "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.", "id": "MONDO:0009978", "name": "Retinal degeneration-nanophthalmos-glaucoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mackay-Shek-Carr syndrome"], "xref": ["GARD:0000395", "MEDGEN:444153", "MESH:C538364", "OMIM:267760", "Orphanet:1574", "SCTID:723503006", "UMLS:C2931831"]}
{"category": ["biolink:Disease"], "description": "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.", "id": "MONDO:0009979", "name": "Reticular dystrophy of the retinal pigment epithelium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["reticular dystrophy of retinal pigment epithelium"], "xref": ["GARD:0016891", "MEDGEN:356753", "MESH:C564844", "MESH:C566721", "OMIM:179840", "Orphanet:99002", "SCTID:723502001", "UMLS:C1867332", "icd11.foundation:878593681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009980", "name": "Retinal telangiectasia and hypogammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinal telangiectasia and hypogammaglobulinemia"], "xref": ["MEDGEN:419680", "MESH:C535638", "OMIM:267900", "UMLS:C2930961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009982", "name": "Retinitis pigmentosa inversa with deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinitis pigmentosa inversa with deafness"], "xref": ["MEDGEN:341447", "MESH:C564842", "OMIM:268010", "UMLS:C1849405"]}
{"category": ["biolink:Disease"], "description": "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0009983", "name": "Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome", "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"], "xref": ["GARD:0004683", "MEDGEN:340317", "MESH:C564841", "OMIM:268020", "Orphanet:3085", "UMLS:C1849401"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.", "id": "MONDO:0009984", "name": "Late-adult onset retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110421", "GARD:0015230", "MEDGEN:340316", "MESH:C564840", "OMIM:268025", "UMLS:C1849400"]}
{"category": ["biolink:Disease"], "description": "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.", "id": "MONDO:0009985", "name": "Retinohepatoendocrinologic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["retinohepatoendocrinologic syndrome"], "xref": ["GARD:0004685", "MEDGEN:340315", "MESH:C564839", "OMIM:268040", "Orphanet:3087", "SCTID:724000006", "UMLS:C1849399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009986", "name": "Retinopathy, pigmentary, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinopathy, pigmentary, and intellectual disability", "retinopathy, pigmentary, and mental retardation"], "xref": ["MEDGEN:167101", "MESH:C538367", "OMIM:268050", "Orphanet:3084", "UMLS:C0796072"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.", "id": "MONDO:0009987", "name": "Autosomal recessive pericentral pigmentary retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110422", "GARD:0015231", "MEDGEN:340314", "MESH:C564838", "OMIM:268060", "UMLS:C1849398"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009988", "name": "Retinoschisis of fovea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinoschisis of fovea"], "xref": ["GARD:0009143", "MEDGEN:340313", "MESH:C538369", "OMIM:268080", "UMLS:C1849397"]}
{"category": ["biolink:Disease"], "description": "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.", "id": "MONDO:0009990", "name": "Revesz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCA5", "Revesz syndrome", "Revesz-DeBuse syndrome", "dyskeratosis congenita with bilateral exudative retinopathy", "dyskeratosis congenita, autosomal dominant 5", "exudative retinopathy with bone marrow failure", "retinopathy-anemia-central nervous system anomalies syndrome"], "xref": ["DOID:0070026", "GARD:0004695", "MEDGEN:231230", "MESH:C538371", "NCIT:C152064", "OMIM:268130", "Orphanet:3088", "SCTID:723512008", "UMLS:C1327916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0009992", "name": "Myoglobinuria, acute recurrent, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myoglobinuria, acute recurrent, autosomal recessive"], "xref": ["GARD:0018251", "MEDGEN:340308", "MESH:C564832", "OMIM:268200", "UMLS:C1849386"]}
{"category": ["biolink:Disease"], "description": "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.", "id": "MONDO:0009993", "name": "Embryonal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ERMS", "embryonal rhabdomyosarcoma", "embryonal rhabdomyosarcoma (disease)", "rhabdomyosarcoma, embryonal, type 1", "rhabdomyosarcoma, somatic"], "xref": ["DOID:3246", "EFO:0000437", "GARD:0004702", "HP:0006743", "ICD9:171.9", "ICDO:8910/3", "MEDGEN:104910", "MedDRA:10065868", "NCIT:C8971", "OMIM:268210", "ONCOTREE:ERMS", "Orphanet:99757", "SCTID:404051002", "UMLS:C0206656"]}
{"category": ["biolink:Disease"], "description": "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.", "id": "MONDO:0009994", "name": "Alveolar rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ARMS", "alveolar rhabdomyosarcoma", "alveolar rhabdomyosarcoma (disease)", "alveolar rhabdomyosarcoma (morphologic abnormality)", "arms", "monomorphous round cell rhabdomyosarcoma", "paediatric alveolar rhabdomyosarcoma", "pediatric alveolar rhabdomyosarcoma", "rhabdomyosarcoma 2, alveolar, somatic mutation", "rhabdomyosarcoma type 2", "rhabdomyosarcoma, alveolar, somatic mutation"], "xref": ["DOID:4051", "EFO:0000248", "GARD:0004701", "HP:0006779", "ICD9:171.9", "ICDO:8920/3", "MEDGEN:61651", "MESH:D018232", "MedDRA:10065867", "NCIT:C3749", "OMIM:268220", "ONCOTREE:ARMS", "Orphanet:99756", "SCTID:404053004", "UMLS:C0206655", "icd11.foundation:1742058067"]}
{"category": ["biolink:Disease"], "description": "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.", "id": "MONDO:0009996", "name": "Rhizomelic syndrome, urbach type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004705", "MEDGEN:376574", "MESH:C537611", "OMIM:268250", "Orphanet:3098", "UMLS:C1849382"]}
{"category": ["biolink:Disease"], "description": "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.", "id": "MONDO:0009998", "name": "Richieri costa-pereira syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richieri Costa-Pereira syndrome", "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome", "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome"], "xref": ["GARD:0004718", "MEDGEN:336581", "MESH:C535677", "OMIM:268305", "Orphanet:3102", "SCTID:723998001", "UMLS:C1849348", "icd11.foundation:107084177"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.", "id": "MONDO:0009999", "name": "Autosomal recessive robinow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["COVESDEM syndrome", "RRS", "Robinow syndrome, autosomal recessive", "costovertebral segmentation defect-mesomelia syndrome"], "xref": ["DOID:0060764", "GARD:0016568", "MEDGEN:1770070", "MESH:C535863", "OMIM:268310", "Orphanet:1507", "UMLS:C5399974", "icd11.foundation:793292660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010000", "name": "Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction"], "xref": ["MEDGEN:376565", "MESH:C564829", "OMIM:268315", "UMLS:C1849333"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.", "id": "MONDO:0010001", "name": "Ectodermal dysplasia-blindness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002045", "MEDGEN:340297", "MESH:C535865", "OMIM:268320", "Orphanet:1806", "UMLS:C1849332"]}
{"category": ["biolink:Disease"], "description": "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.", "id": "MONDO:0010002", "name": "Rothmund-thomson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RTS", "Rothmund-Thomson syndrome", "poikiloderma of Rothmund-Thomson"], "xref": ["DOID:2732", "GARD:0004392", "ICD9:759.89", "MEDGEN:10819", "MESH:D011038", "NANDO:1200671", "NCIT:C3335", "NORD:1678", "OMIMPS:268400", "Orphanet:2909", "SCTID:69093006", "UMLS:C0032339", "icd11.foundation:652761118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010003", "name": "Rowley-rosenberg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Rowley-Rosenberg syndrome"], "xref": ["MEDGEN:120638", "MESH:C535874", "OMIM:268500", "SCTID:53783003", "UMLS:C0268426"]}
{"category": ["biolink:Disease"], "description": "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).", "id": "MONDO:0010004", "name": "Eec syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate", "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft syndrome"], "xref": ["DOID:0060782", "GARD:0002076", "MEDGEN:98357", "MESH:C536189", "NCIT:C148261", "NORD:1079", "OMIM:268650", "Orphanet:1896", "SCTID:39788007", "UMLS:C0406704"]}
{"category": ["biolink:Disease"], "description": "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.", "id": "MONDO:0010005", "name": "Saccharopinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperlysinemia type II", "saccharopine dehydrogenase deficiency", "saccharopinuria"], "xref": ["GARD:0000314", "ICD9:270.7", "MEDGEN:75693", "MESH:C537218", "OMIM:268700", "Orphanet:3124", "SCTID:111397004", "UMLS:C0268556"]}
{"category": ["biolink:Disease"], "description": "A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.", "id": "MONDO:0010006", "name": "Sandhoff disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis 0 variant", "GM2 gangliosidosis, 0 variant", "Hexosaminidases A and B deficiency", "Sandhoff Jatzkewitz disease", "Sandhoff disease"], "xref": ["DOID:3323", "GARD:0002521", "ICD10CM:E75.01", "MEDGEN:11313", "MESH:D012497", "NANDO:1200072", "NANDO:2201200", "NCIT:C85052", "NORD:1688", "OMIM:268800", "Orphanet:796", "SCTID:23849003", "UMLS:C0036161", "icd11.foundation:708581915"]}
{"category": ["biolink:Disease"], "description": "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.", "id": "MONDO:0010007", "name": "Microbrachycephaly-ptosis-cleft lip syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richieri Costa-Guion Almeida-Ramos syndrome"], "xref": ["GARD:0003596", "MEDGEN:162914", "OMIM:268850", "Orphanet:2511", "UMLS:C0796142"]}
{"category": ["biolink:Disease"], "description": "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.", "id": "MONDO:0010008", "name": "Sarcosinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sarcosinemia"], "xref": ["DOID:0112307", "GARD:0000158", "ICD9:270.8", "MEDGEN:120651", "MESH:C537236", "MedDRA:10059299", "OMIM:268900", "Orphanet:3129", "SCTID:64852002", "UMLS:C0268563", "icd11.foundation:1901733714"]}
{"category": ["biolink:Disease"], "description": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.", "id": "MONDO:0010010", "name": "Schinzel-giedion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SGS", "Schinzel Giedion Syndrome", "Schinzel-Giedion midface-retraction syndrome", "Schinzel-Giedion syndrome"], "xref": ["DOID:0070509", "GARD:0000117", "ICD9:759.89", "MEDGEN:120517", "MESH:C536632", "MedDRA:10063540", "NCIT:C129308", "NORD:1694", "OMIM:269150", "Orphanet:798", "SCTID:18899000", "UMLS:C0265227", "icd11.foundation:1542318431"]}
{"category": ["biolink:Disease"], "description": "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.", "id": "MONDO:0010011", "name": "Schizencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["schizencephaly"], "xref": ["GARD:0000166", "ICD9:742.4", "MEDGEN:78606", "MESH:D065707", "NANDO:1201073", "NANDO:2200818", "NCIT:C99056", "OMIM:269160", "Orphanet:799", "SCTID:253159001", "UMLS:C0266484", "icd11.foundation:1693546163"]}
{"category": ["biolink:Disease"], "description": "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.", "id": "MONDO:0010012", "name": "Autoimmune polyendocrinopathy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APS type 2", "APS2", "Autoimmune Polyendocrine Syndrome Type II", "Schmidt syndrome", "autoimmune polyendocrine syndrome type 2", "autoimmune polyglandular syndrome type 2", "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome"], "xref": ["DOID:0050168", "GARD:0007611", "ICD9:258.8", "MEDGEN:39126", "NANDO:2200347", "NCIT:C129728", "NORD:824", "OMIM:269200", "Orphanet:3143", "SCTID:83728000", "UMLS:C0085860", "icd11.foundation:1065249344"]}
{"category": ["biolink:Disease"], "description": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.", "id": "MONDO:0010013", "name": "Schneckenbecken dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC35D1-CDG", "chondrodysplasia with snail-like pelvis", "schneckenbecken dysplasia"], "xref": ["DOID:0050775", "GARD:0000169", "ICD9:756.9", "MEDGEN:98475", "MESH:C536637", "OMIM:269250", "Orphanet:3144", "SCTID:254049009", "UMLS:C0432194", "icd11.foundation:584032448"]}
{"category": ["biolink:Disease"], "description": "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.", "id": "MONDO:0010014", "name": "Craniometadiaphyseal dysplasia, wormian bone type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Schwartz-Lelek syndrome"], "xref": ["GARD:0016737", "MEDGEN:1382152", "OMIM:269300", "Orphanet:85184", "SCTID:278833002", "UMLS:C4510809", "icd11.foundation:1055011248"]}
{"category": ["biolink:Disease"], "description": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.", "id": "MONDO:0010015", "name": "Anterior segment dysgenesis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CCMCO", "PXDN anterior segment dysgenesis", "PXDN-related ocular dysgenesis", "anterior segment dysgenesis 7", "anterior segment dysgenesis 7, with sclerocornea", "anterior segment dysgenesis caused by mutation in PXDN", "sclerocornea with other ocular anomalies"], "xref": ["DOID:0080612", "GARD:0017327", "MEDGEN:462967", "OMIM:269400", "Orphanet:289499", "UMLS:C3151617"]}
{"category": ["biolink:Disease"], "description": "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.", "id": "MONDO:0010016", "name": "Sclerosteosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SOST sclerosteosis", "SOST1", "sclerosteosis 1", "sclerosteosis caused by mutation in SOST", "sclerosteosis type 1"], "xref": ["DOID:0060756", "GARD:0015233", "MEDGEN:1642815", "OMIM:269500", "UMLS:C4551483"]}
{"category": ["biolink:Disease"], "description": "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.", "id": "MONDO:0010017", "name": "Sea-blue histiocyte syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4423", "GARD:0008241", "MEDGEN:19908", "MESH:D012618", "NCIT:C85062", "OMIM:269600", "Orphanet:158029", "SCTID:37821003", "UMLS:C0036489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010018", "name": "Second metatarsal-metacarpal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["second metatarsal-metacarpal syndrome"], "xref": ["MEDGEN:341415", "MESH:C564824", "OMIM:269630", "UMLS:C1849259"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010019", "name": "Secretory component deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["secretory component deficiency"], "xref": ["GARD:0024702", "ICD9:279.03", "MEDGEN:140769", "MESH:C562869", "OMIM:269650", "SCTID:234554004", "UMLS:C0398709"]}
{"category": ["biolink:Disease"], "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.", "id": "MONDO:0010020", "name": "Congenital generalized lipodystrophy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BSCL2 congenital generalised lipodystrophy (disease)", "BSCL2 congenital generalized lipodystrophy (disease)", "CGL2", "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2", "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2"], "xref": ["DOID:0111136", "GARD:0010212", "MEDGEN:318593", "OMIM:269700", "Orphanet:696289", "UMLS:C1720863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010021", "name": "Seizures, benign familial neonatal, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["seizures, benign familial neonatal, autosomal recessive"], "xref": ["GARD:0015234", "MEDGEN:338640", "MESH:C564823", "OMIM:269720", "UMLS:C1849250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010022", "name": "Senile plaque formation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["senile plaque formation"], "xref": ["MEDGEN:338639", "OMIM:269800", "UMLS:C1849249"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.", "id": "MONDO:0010023", "name": "Combined immunodeficiency due to zap70 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["zeta-associated-protein 70 deficiency"], "xref": ["DOID:0111943", "GARD:0000387", "MEDGEN:419767", "MESH:C536722", "NANDO:1200327", "NANDO:2200700", "OMIM:269840", "Orphanet:911", "SCTID:716378008", "UMLS:C2931299", "icd11.foundation:1718367094"]}
{"category": ["biolink:Disease"], "description": "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.", "id": "MONDO:0010024", "name": "Beemer-langer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beemer-Langer syndrome", "short rib-polydactyly syndrome type 4"], "xref": ["DOID:9249", "GARD:0004832", "ICD9:756.9", "MEDGEN:96578", "MESH:C537599", "OMIM:269860", "Orphanet:93268", "SCTID:254052001", "UMLS:C0432198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010025", "name": "Short stature-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["short stature-obesity syndrome"], "xref": ["MEDGEN:341410", "MESH:C564821", "OMIM:269870", "UMLS:C1849235"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.", "id": "MONDO:0010026", "name": "Short syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aarskog-Ose-Pande syndrome", "Rieger anomaly-partial lipodystrophy syndrome", "SHORT syndrome", "lipodystrophy-Rieger anomaly-diabetes syndrome", "short syndrome"], "xref": ["DOID:0111454", "GARD:0007633", "MEDGEN:164212", "MESH:C537327", "NORD:1710", "OMIM:269880", "Orphanet:3163", "UMLS:C0878684", "icd11.foundation:1264512044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010027", "name": "Free sialic acid storage disease, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ISSD", "sialic acid storage disorder, infantile"], "xref": ["GARD:0000175", "MEDGEN:203367", "MedDRA:10067532", "NANDO:1200147", "NANDO:2201237", "OMIM:269920", "Orphanet:309324", "SCTID:34566007", "UMLS:C1096902"]}
{"category": ["biolink:Disease"], "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.", "id": "MONDO:0010028", "name": "Sialuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sialuria", "sialuria, French type"], "xref": ["DOID:3659", "GARD:0004865", "ICD9:796.4", "MEDGEN:137980", "MedDRA:10067529", "OMIM:269921", "Orphanet:3166", "SCTID:238051008", "UMLS:C0342853", "icd11.foundation:154329034"]}
{"category": ["biolink:Disease"], "description": "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).", "id": "MONDO:0010029", "name": "Situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["complete situs inversus", "complete situs inversus viscerum", "complete transposition (morphologic abnormality)", "situs inversus", "situs inversus totalis", "situs inversus totalis (disease)"], "xref": ["DOID:758", "GARD:0004883", "HP:0001696", "ICD10CM:Q89.3", "ICD9:759.3", "ICD9:759.89", "MEDGEN:1642262", "MESH:D012857", "NCIT:C87121", "Orphanet:101063", "SCTID:24614000", "UMLS:C4551493", "icd11.foundation:797648408"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain", "id": "MONDO:0010030", "name": "Sjogren syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sjogren syndrome", "Sjögren syndrome", "Sjögren-Gougerot syndrome", "primary Sjogren-Gougerot syndrome", "primary Sjögren-Gougerot syndrome", "sicca syndrome", "syndrome, Sjogren's"], "xref": ["DOID:12894", "EFO:0000699", "ICD10CM:M35.0", "ICD9:710.2", "MEDGEN:282890", "MESH:D012859", "NANDO:1200279", "NANDO:1200280", "NANDO:2200420", "NCIT:C26883", "OMIM:270150", "Orphanet:289390", "Orphanet:378", "SCTID:83901003", "UMLS:C1527336", "icd11.foundation:899463360"]}
{"category": ["biolink:Disease"], "description": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.", "id": "MONDO:0010031", "name": "Sjogren-larsson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLS", "Senior-Løken Syndrome", "Sjogren-Larsson syndrome", "fatty acid alcohol oxidoreductase deficiency"], "xref": ["DOID:14501", "GARD:0007654", "MEDGEN:11443", "MESH:D016111", "MedDRA:10048676", "NANDO:1200620", "NANDO:2200994", "NCIT:C85070", "NORD:1377", "OMIM:270200", "Orphanet:816", "SCTID:111303009", "UMLS:C0037231", "icd11.foundation:418359090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010032", "name": "Sjogren-larsson-like ichthyosis without cns or eye involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Sjogren-Larsson-like ichthyosis without CNS or eye involvement"], "xref": ["GARD:0004885", "MEDGEN:336532", "MESH:C536668", "OMIM:270220", "UMLS:C1849195"]}
{"category": ["biolink:Disease"], "description": "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.", "id": "MONDO:0010033", "name": "Generalized peeling skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["generalised PSS", "generalised deciduous skin", "generalized PSS", "generalized deciduous skin", "peeling skin syndrome type 1"], "xref": ["GARD:0012862", "MEDGEN:930825", "Orphanet:263543", "SCTID:718749004", "UMLS:C4305156"]}
{"category": ["biolink:Disease"], "description": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.", "id": "MONDO:0010035", "name": "Smith-lemli-opitz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["7-dehydrocholesterol reductase deficiency", "RSH syndrome", "Rutledge lethal multiple congenital anomaly syndrome", "SLO syndrome", "SLOS", "Smith-Lemli-Opitz syndrome"], "xref": ["DOID:14692", "GARD:0005683", "ICD10CM:E78.72", "ICD9:759.89", "MEDGEN:61231", "MESH:D019082", "NANDO:1200961", "NANDO:2200979", "NCIT:C85071", "NORD:1724", "OMIM:270400", "Orphanet:818", "SCTID:43929004", "UMLS:C0175694", "icd11.foundation:1231469858"]}
{"category": ["biolink:Disease"], "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.", "id": "MONDO:0010036", "name": "Congenital secretory sodium diarrhea 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SPINT2 secretory diarrhea", "SPINT2 secretory diarrhoea", "congenital secretory sodium diarrhea type 3", "congenital secretory sodium diarrhoea type 3", "secretory diarrhea caused by mutation in SPINT2", "secretory diarrhoea caused by mutation in SPINT2"], "xref": ["DOID:0060781", "GARD:0018260", "MEDGEN:1778108", "OMIM:270420", "UMLS:C5441927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010037", "name": "Sodium-potassium-atpase activity of red cell", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sodium-potassium-ATPase activity of red cell"], "xref": ["MEDGEN:376532", "OMIM:270425", "UMLS:C1849169"]}
{"category": ["biolink:Disease"], "description": "Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).", "id": "MONDO:0010038", "name": "Growth delay due to insulin-like growth factor i resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["growth delay due to insulin-like growth factor I resistance", "resistance to IGF-1"], "xref": ["GARD:0010609", "MEDGEN:338622", "MESH:C564816", "NANDO:2200320", "OMIM:270450", "Orphanet:73273", "SCTID:715625007", "UMLS:C1849157", "icd11.foundation:272435490"]}
{"category": ["biolink:Disease"], "description": "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.", "id": "MONDO:0010039", "name": "Sonoda syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sonoda syndrome"], "xref": ["GARD:0004905", "MEDGEN:167108", "MESH:C536680", "OMIM:270460", "Orphanet:1355", "SCTID:715987000", "UMLS:C0796162"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010040", "name": "Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability", "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation"], "xref": ["MEDGEN:462969", "OMIM:270500", "UMLS:C3151619"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.", "id": "MONDO:0010041", "name": "Charlevoix-saguenay spastic ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARSACS", "Charlevoix-Saguenay spastic ataxia", "SPAX6", "autosomal recessive spastic ataxia of Charlevoix-Saguenay", "autosomal recessive spastic ataxia type 6"], "xref": ["DOID:0050946", "GARD:0004910", "MEDGEN:338620", "MESH:C536787", "OMIM:270550", "Orphanet:98", "SCTID:702445005", "UMLS:C1849140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010042", "name": "Spastic diplegia and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spastic diplegia and intellectual disability", "spastic diplegia and mental retardation"], "xref": ["GARD:0004911", "MEDGEN:376526", "MESH:C537481", "OMIM:270600", "UMLS:C1849139"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.", "id": "MONDO:0010043", "name": "Hereditary spastic paraplegia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSCL2 hereditary spastic paraplegia", "SPG17", "Silver spastic paraplegia syndrome", "Silver syndrome", "autosomal dominant spastic paraplegia type 17", "hereditary spastic paraplegia caused by mutation in BSCL2", "hereditary spastic paraplegia type 17", "spastic paraplegia with amyotrophy of hands and feet", "spastic paraplegia-amyotrophy of hands and feet"], "xref": ["DOID:0110770", "GARD:0004219", "MEDGEN:419034", "MESH:C536644", "OMIM:270685", "Orphanet:100998", "UMLS:C2931276"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.", "id": "MONDO:0010044", "name": "Hereditary spastic paraplegia 15", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kjellin syndrome", "SPG15", "ZFYVE26 autosomal recessive complex spastic paraplegia", "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26", "autosomal recessive spastic paraplegia type 15", "hereditary spastic paraparesis type 15", "hereditary spastic paraplegia 15", "hereditary spastic paraplegia type 15", "spastic paraplegia and retinal degeneration", "spastic paraplegia-retinal degeneration syndrome"], "xref": ["DOID:0110768", "GARD:0009581", "MEDGEN:341387", "MESH:C536642", "OMIM:270700", "Orphanet:100996", "SCTID:709417000", "UMLS:C1849128"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.", "id": "MONDO:0010046", "name": "Hereditary spastic paraplegia 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSTYK autosomal recessive complex spastic paraplegia", "Lison syndrome", "SPG23", "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK", "hereditary spastic paraplegia type 23", "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome", "spastic paraplegia 23", "spastic paraplegia with pigmentary abnormalities"], "xref": ["DOID:0110774", "GARD:0000336", "MEDGEN:167094", "MESH:C536859", "OMIM:270750", "Orphanet:101003", "SCTID:726608002", "UMLS:C0796019"]}
{"category": ["biolink:Disease"], "description": "A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.", "id": "MONDO:0010047", "name": "Hereditary spastic paraplegia 5a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CYP7B1 pure or complex autosomal recessive spastic paraplegia", "SPG5A", "autosomal recessive spastic paraplegia type 5A", "hereditary spastic paraplegia type 5A", "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1", "spastic paraplegia type 5B, recessive"], "xref": ["DOID:0110810", "GARD:0004926", "MEDGEN:376521", "OMIM:270800", "Orphanet:100986", "SCTID:763373005", "UMLS:C1849115"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010048", "name": "Spastic paraplegia with myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic paraplegia with myoclonic epilepsy"], "xref": ["MEDGEN:338615", "MESH:C564810", "OMIM:270805", "UMLS:C1849114"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.", "id": "MONDO:0010049", "name": "Spastic paraplegia-glaucoma-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004931", "MEDGEN:376520", "MESH:C564809", "OMIM:270850", "Orphanet:2818", "UMLS:C1849113"]}
{"category": ["biolink:Disease"], "description": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.", "id": "MONDO:0010051", "name": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"], "xref": ["GARD:0004932", "MEDGEN:376519", "MESH:C564808", "OMIM:270950", "Orphanet:3011", "UMLS:C1849112"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.", "id": "MONDO:0010052", "name": "Spermatogenic failure 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare"], "synonym": ["SYCP3 azoospermia", "azoospermia caused by mutation in SYCP3", "spermatogenic failure 4", "spermatogenic failure type 4"], "xref": ["DOID:0070176", "GARD:0015235", "MEDGEN:68568", "MESH:C536875", "OMIM:270960", "UMLS:C0232981"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.", "id": "MONDO:0010053", "name": "Hereditary spherocytosis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HS3", "SPH3", "SPTA1 hereditary spherocytosis", "hereditary spherocytosis caused by mutation in SPTA1"], "xref": ["DOID:0110918", "GARD:0015236", "MEDGEN:394798", "MESH:C567489", "OMIM:270970", "UMLS:C2678338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010054", "name": "Spinal muscular atrophy with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spinal muscular atrophy with intellectual disability", "spinal muscular atrophy with mental retardation"], "xref": ["MEDGEN:376518", "MESH:C564807", "OMIM:271109", "UMLS:C1849109"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010055", "name": "Spinal muscular atrophy with microcephaly and mental subnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spinal muscular atrophy with microcephaly and mental subnormality"], "xref": ["MEDGEN:1856346", "MESH:C564806", "OMIM:271110", "UMLS:C5935682"]}
{"category": ["biolink:Disease"], "description": "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.", "id": "MONDO:0010056", "name": "Spinal muscular atrophy, type iv", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SMA type 4", "SMA type IV", "SMA-IV", "SMA4", "spinal muscular atrophy of adults", "spinal muscular atrophy, adult form", "spinal muscular atrophy, type IV", "spinal muscular atrophy-4"], "xref": ["DOID:0050529", "GARD:0000564", "ICD9:335.19", "MEDGEN:325364", "MESH:C563948", "NANDO:1200007", "OMIM:271150", "Orphanet:83420", "SCTID:85505000", "UMLS:C1838230", "icd11.foundation:443229384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010057", "name": "Spinal muscular atrophy, ryukyuan type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinal muscular atrophy, Ryukyuan type"], "xref": ["GARD:0009646", "MEDGEN:376517", "MESH:C536881", "OMIM:271200", "UMLS:C1849102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010058", "name": "Scapuloperoneal spinal muscular atrophy, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinal muscular atrophy, scapuloperoneal"], "xref": ["GARD:0024703", "OMIM:271220"]}
{"category": ["biolink:Disease"], "description": "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.", "id": "MONDO:0010060", "name": "Mitochondrial dna depletion syndrome 7 (hepatocerebral type)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IOSCA", "OHAHA syndrome", "Ohaha syndrome", "TWNK autosomal recessive degenerative and progressive cerebellar ataxia", "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK", "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "mitochondrial DNA depletion syndrome type 7", "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"], "xref": ["DOID:0050556", "DOID:0080126", "GARD:0004062", "MEDGEN:338613", "MESH:C535523", "OMIM:271245", "Orphanet:1186", "SCTID:724227000", "UMLS:C1849096"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.", "id": "MONDO:0010062", "name": "Spinocerebellar ataxia-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004958", "MEDGEN:336495", "MESH:C564802", "OMIM:271270", "Orphanet:1185", "UMLS:C1849088"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0010063", "name": "Corneal-cerebellar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Der Kaloustian-Jarudi-Khoury syndrome", "corneal-cerebellar syndrome", "spinocerebellar degeneration-corneal dystrophy syndrome"], "xref": ["GARD:0001525", "MEDGEN:341379", "MESH:C535472", "OMIM:271310", "Orphanet:3177", "SCTID:720750004", "UMLS:C1849087", "icd11.foundation:577494924"]}
{"category": ["biolink:Disease"], "description": "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.", "id": "MONDO:0010064", "name": "Spastic ataxia-corneal dystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bedouin spastic ataxia syndrome", "Mousa-Al Din-Al Nassar syndrome", "spastic ataxia-ocular anomalies syndrome"], "xref": ["GARD:0003795", "MEDGEN:336493", "MESH:C536989", "OMIM:271320", "Orphanet:2572", "SCTID:715465001", "UMLS:C1849085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010065", "name": "Spinocerebellar degeneration with slow eye movements", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spinocerebellar degeneration with slow eye movements"], "xref": ["GARD:0024704", "OMIM:271322"]}
{"category": ["biolink:Disease"], "description": "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.", "id": "MONDO:0010066", "name": "Familial isolated congenital asplenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016944", "MEDGEN:151935", "MESH:C563028", "NANDO:2200775", "OMIM:271400", "Orphanet:101351", "SCTID:726708009", "UMLS:C0685889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010067", "name": "Splenoportal vascular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["splenoportal vascular anomalies"], "xref": ["MEDGEN:137945", "MESH:C562761", "OMIM:271500", "SCTID:234131004", "UMLS:C0340826"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.", "id": "MONDO:0010068", "name": "Spondyloepimetaphyseal dysplasia, sponastrime type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sponastrime dysplasia", "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia", "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia", "spondyloepimetaphyseal dysplasia, Sponastrime type", "spondyloepimetaphyseal dysplasia, sponastrime type"], "xref": ["DOID:5684", "GARD:0004970", "ICD9:756.9", "MEDGEN:266247", "MESH:C535786", "NCIT:C129031", "OMIM:271510", "Orphanet:93357", "SCTID:389161008", "UMLS:C1300260"]}
{"category": ["biolink:Disease"], "description": "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.", "id": "MONDO:0010069", "name": "Spondylocostal dysostosis-anal and genitourinary malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Casamassima-Morton-Nance syndrome"], "xref": ["GARD:0024705", "MEDGEN:341373", "MESH:C564799", "OMIM:271520", "Orphanet:94095", "UMLS:C1849069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010070", "name": "Brachyolmia type 1, hobaek type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCYM1A", "brachyolmia type 1, Hobaek type"], "xref": ["GARD:0000995", "MEDGEN:338605", "MESH:C537099", "OMIM:271530", "Orphanet:93301", "UMLS:C1849055", "icd11.foundation:1213374086"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of spondyloepiphyseal dysplasia tarda.", "id": "MONDO:0010072", "name": "Spondyloepiphyseal dysplasia tarda, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive spondyloepiphyseal dysplasia tarda", "spondyloepiphyseal dysplasia tarda, autosomal recessive"], "xref": ["DOID:0112293", "GARD:0015237", "MEDGEN:338604", "MESH:C564797", "OMIM:271600", "UMLS:C1849054"]}
{"category": ["biolink:Disease"], "description": "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.", "id": "MONDO:0010073", "name": "Spondyloepiphyseal dysplasia tarda, kohn type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112292", "GARD:0016995", "MEDGEN:338603", "MESH:C564796", "OMIM:271620", "Orphanet:163665", "SCTID:719202006", "UMLS:C1849053", "icd11.foundation:758715188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010074", "name": "Brachyolmia type 1, toledo type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCYM1B"], "xref": ["GARD:0004977", "MEDGEN:376504", "MESH:C535787", "OMIM:271630", "Orphanet:93303", "UMLS:C1849048", "icd11.foundation:637954533"]}
{"category": ["biolink:Disease"], "description": "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.", "id": "MONDO:0010075", "name": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity", "SEMDJL1", "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6", "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type", "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"], "xref": ["DOID:0112198", "GARD:0024706", "MEDGEN:865814", "OMIM:271640", "Orphanet:642099", "UMLS:C4017377"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.", "id": "MONDO:0010076", "name": "Spondyloepimetaphyseal dysplasia, irapa type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD, Irapa type", "spondyloepimetaphyseal dysplasia, Irapa type"], "xref": ["GARD:0016819", "MEDGEN:98476", "MESH:C562958", "OMIM:271650", "Orphanet:93351", "SCTID:717330004", "UMLS:C0432213", "icd11.foundation:1355637988"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.", "id": "MONDO:0010077", "name": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112196", "GARD:0010616", "MEDGEN:338595", "MESH:C564794", "OMIM:271665", "Orphanet:93358", "UMLS:C1849011"]}
{"category": ["biolink:Disease"], "description": "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.", "id": "MONDO:0010078", "name": "Spondyloperipheral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondyloperipheral dysplasia", "spondyloperipheral dysplasia-short ulna syndrome"], "xref": ["DOID:0112195", "GARD:0004994", "ICD9:758.89", "MEDGEN:163223", "MESH:C535799", "NANDO:2201351", "NCIT:C135088", "OMIM:271700", "Orphanet:1856", "SCTID:702339001", "UMLS:C0796173"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.", "id": "MONDO:0010079", "name": "Canavan disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACY2 deficiency", "Canavan disease", "Canavan-VAN Bogaert-Bertrand disease", "aminoacylase 2 deficiency", "aspartoacylase deficiency", "spongy degeneration of central nervous system", "spongy degeneration of the brain"], "xref": ["DOID:3613", "GARD:0005984", "MEDGEN:61565", "MESH:D017825", "MedDRA:10067608", "NANDO:1200948", "NANDO:2200834", "NCIT:C84611", "NORD:886", "OMIM:271900", "Orphanet:141", "SCTID:80544005", "UMLS:C0206307", "icd11.foundation:1576870846"]}
{"category": ["biolink:Disease"], "description": "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.", "id": "MONDO:0010080", "name": "Familial infantile bilateral striatal necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial IBSN", "familial infantile striatonigral degeneration", "familial infantile striatonigral necrosis", "hereditary infantile bilateral striatal necrosis"], "xref": ["GARD:0017141", "MEDGEN:1672478", "OMIM:271930", "Orphanet:225154", "UMLS:C4087174", "icd11.foundation:1873983370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010081", "name": "Subaortic stenosis, membranous", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["subaortic stenosis, membranous"], "xref": ["GARD:0018242", "MEDGEN:336468", "MESH:C564793", "OMIM:271950", "UMLS:C1848979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010082", "name": "Subaortic stenosis-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Onat syndrome"], "xref": ["GARD:0000405", "MEDGEN:167085", "MESH:C537749", "OMIM:271960", "Orphanet:3191", "UMLS:C0795947"]}
{"category": ["biolink:Disease"], "description": "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.", "id": "MONDO:0010083", "name": "Succinic semialdehyde dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["4-hydroxybutyric aciduria", "SSADH deficiency", "gamma-hydroxybutyric aciduria", "succinic semialdehyde dehydrogenase deficiency"], "xref": ["DOID:0060175", "GARD:0007695", "MEDGEN:124340", "MESH:C535803", "NANDO:2200599", "NORD:1904", "OMIM:271980", "Orphanet:22", "SCTID:49748000", "UMLS:C0268631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010084", "name": "Sucrosuria, hiatus hernia and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sucrosuria, hiatus hernia and intellectual disability", "sucrosuria, hiatus hernia and mental retardation"], "xref": ["MEDGEN:338583", "MESH:C564792", "OMIM:272000", "UMLS:C1848963"]}
{"category": ["biolink:Disease"], "description": "Schilder's disease is a progressive demyelinating disorder of the central nervous system.", "id": "MONDO:0010085", "name": "Schilder disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Schilder disease", "Schilder's disease", "myelinoclastic diffuse sclerosis"], "xref": ["GARD:0016661", "ICD10CM:G37.0", "ICD9:341.1", "MEDGEN:3324", "OMIM:272100", "Orphanet:59298", "SCTID:49692006", "UMLS:C0007795"]}
{"category": ["biolink:Disease"], "description": "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0010087", "name": "Sugarman brachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Sugarman brachydactyly", "Sugarman-Hager-Kulik syndrome", "brachydactyly with major proximal phalangeal shortening"], "xref": ["DOID:0110979", "GARD:0005058", "MEDGEN:1777636", "OMIM:272150", "Orphanet:498602", "UMLS:C5399870"]}
{"category": ["biolink:Disease"], "description": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.", "id": "MONDO:0010088", "name": "Mucosulfatidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSD", "Multiple Sulfatase Deficiency", "juvenile sulfatidosis, Austin type", "mucosulfatidosis", "multiple sulfatase deficiency disease", "sulfatidosis, juvenile, Austin type"], "xref": ["DOID:0050441", "GARD:0005061", "MEDGEN:75664", "MESH:D052517", "NANDO:1200083", "NANDO:1200624", "NANDO:2200566", "NCIT:C84908", "NORD:1471", "OMIM:272200", "Orphanet:585", "SCTID:54898003", "UMLS:C0268263", "icd11.foundation:848083807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010089", "name": "Isolated sulfite oxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ISOD", "Sulfocysteinuria", "isolated sulfite oxidase deficiency", "sulfite oxidase deficiency", "sulfite oxidase deficiency, isolated", "sulfocysteinuria"], "xref": ["DOID:0111270", "GARD:0005062", "MEDGEN:78695", "MESH:C538141", "NANDO:2200583", "OMIM:272300", "Orphanet:99731", "SCTID:367368009", "UMLS:C0268624", "icd11.foundation:963607692"]}
{"category": ["biolink:Disease"], "description": "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.", "id": "MONDO:0010090", "name": "Summitt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Summitt syndrome"], "xref": ["GARD:0000127", "MEDGEN:369198", "MESH:C538142", "NORD:1746", "OMIM:272350", "Orphanet:3210", "SCTID:733606001", "UMLS:C1802405"]}
{"category": ["biolink:Disease"], "description": "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.", "id": "MONDO:0010091", "name": "Cold-induced sweating syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Crisponi syndrome", "cold-induced sweating syndrome type 1"], "xref": ["DOID:0080329", "GARD:0001611", "MEDGEN:338577", "MESH:C536214", "OMIM:272430", "OMIM:601378", "Orphanet:1545", "SCTID:725097006", "UMLS:C1848947"]}
{"category": ["biolink:Disease"], "description": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.", "id": "MONDO:0010092", "name": "Filippi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Filippi syndrome", "type 1 syndactyly-microcephaly-intellectual disability syndrome"], "xref": ["DOID:0112194", "GARD:0000062", "MEDGEN:163197", "MESH:C538152", "NORD:1149", "OMIM:272440", "Orphanet:3255", "SCTID:720954000", "UMLS:C0795940", "icd11.foundation:1989471300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010093", "name": "Syndesmodysplasic dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["syndesmodysplasic dwarfism"], "xref": ["MEDGEN:419461", "MESH:C537869", "OMIM:272450", "Orphanet:2654", "UMLS:C2931647"]}
{"category": ["biolink:Disease"], "description": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.", "id": "MONDO:0010094", "name": "Spondylocarpotarsal synostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCT", "Synspondylism", "spondylocarpotarsal syndrome", "spondylocarpotarsal synostosis", "spondylocarpotarsal synostosis syndrome", "vertebral fusion with carpal coalition"], "xref": ["DOID:0090116", "GARD:0004974", "ICD9:758.89", "MEDGEN:341339", "MESH:C535780", "OMIM:272460", "Orphanet:3275", "SCTID:702351004", "UMLS:C1848934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010095", "name": "Ataxia-tapetoretinal degeneration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016559", "MEDGEN:336461", "MESH:C564788", "OMIM:272600", "Orphanet:1178", "UMLS:C1848932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010096", "name": "Tardive dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tardive dyskinesia", "tardive dyskinesia (disease)"], "xref": ["HP:0040141", "MEDGEN:151939", "MESH:D000071057", "OMIM:272620", "SCTID:102449007", "UMLS:C0686347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010097", "name": "Tatsumi factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Tatsumi factor deficiency"], "xref": ["GARD:0024707", "MEDGEN:336460", "MESH:C564787", "OMIM:272650", "UMLS:C1848931"]}
{"category": ["biolink:Disease"], "description": "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.", "id": "MONDO:0010098", "name": "Taurodontism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar"], "synonym": ["taurodontism", "taurodontism (disease)"], "xref": ["HP:0000679", "MEDGEN:75596", "MESH:C536946", "OMIM:272700", "Orphanet:3289", "SCTID:51744007", "UMLS:C0266039", "icd11.foundation:356382747"]}
{"category": ["biolink:Disease"], "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.", "id": "MONDO:0010099", "name": "Tay-sachs disease ab variant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hexosaminidase activator deficiency"], "xref": ["DOID:4795", "GARD:0017406", "MEDGEN:78657", "MESH:D049290", "NANDO:1200073", "NANDO:2201201", "NCIT:C133084", "OMIM:272750", "Orphanet:309246", "SCTID:71253000", "UMLS:C0268275"]}
{"category": ["biolink:Disease"], "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.", "id": "MONDO:0010100", "name": "Tay-sachs disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis, B, B1 variant", "GM2-gangliosidosis, several forms", "Hex A pseudodeficiency", "Tay Sachs Disease", "Tay-Sachs disease", "disease, Tay-Sachs", "hexosaminidase A deficiency"], "xref": ["DOID:3320", "GARD:0007737", "ICD10CM:E75.02", "MEDGEN:11713", "MESH:D013661", "MedDRA:10043147", "NANDO:1200071", "NANDO:2201199", "NCIT:C85184", "NORD:1761", "OMIM:272800", "Orphanet:845", "SCTID:111385000", "SCTID:49562005", "UMLS:C0039373", "icd11.foundation:215008783"]}
{"category": ["biolink:Disease"], "description": "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.", "id": "MONDO:0010101", "name": "Teebi-shaltout syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Teebi-Shaltout syndrome"], "xref": ["GARD:0005125", "MEDGEN:376472", "MESH:C536950", "OMIM:272950", "Orphanet:3291", "UMLS:C1848912"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.", "id": "MONDO:0010102", "name": "Taurodontia-absent teeth-sparse hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0005118", "MEDGEN:338570", "MESH:C536945", "OMIM:272980", "Orphanet:2731", "UMLS:C1848909"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010103", "name": "Teeth, fused", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["teeth, fused"], "xref": ["MEDGEN:4808", "MESH:D005671", "OMIM:273000", "SCTID:1744008", "UMLS:C0016873"]}
{"category": ["biolink:Disease"], "description": "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.", "id": "MONDO:0010104", "name": "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stoelinga-de Koomen-Davis syndrome"], "xref": ["GARD:0005027", "MEDGEN:341331", "OMIM:273050", "Orphanet:2972", "SCTID:723442008", "UMLS:C1848903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010105", "name": "Teratoma, pineal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["teratoma, pineal"], "xref": ["GARD:0024708", "MEDGEN:336449", "MESH:C537401", "OMIM:273120", "UMLS:C1848902"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010106", "name": "Testes, rudimentary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testes, rudimentary"], "xref": ["MEDGEN:336448", "OMIM:273150", "UMLS:C1848901"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.", "id": "MONDO:0010108", "name": "Testicular germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TGCT", "germ cell neoplasm of testis", "germ cell neoplasm of the testis", "germ cell tumor of testis", "germ cell tumor of the testis", "germ cell tumors, somatic", "germ cell tumour of testis", "germ cell tumour of the testis", "male germ cell tumor, somatic", "spermatocytic seminoma, somatic", "testicular germ cell neoplasm", "testicular germ cell neoplasms", "testicular germ cell tumor", "testicular tumor, somatic", "testis germ cell tumor", "testis germ cell tumour"], "xref": ["DOID:5557", "EFO:1000566", "GARD:0013047", "ICD9:239.5", "MEDGEN:277809", "MESH:C563236", "NCIT:C8591", "OMIM:273300", "Orphanet:363504", "SCTID:713577007", "UMLS:C1336708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010109", "name": "Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities"], "xref": ["MEDGEN:444003", "MESH:C536496", "OMIM:273390", "UMLS:C2931214"]}
{"category": ["biolink:Disease"], "description": "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.", "id": "MONDO:0010110", "name": "Tetraamelia-multiple malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Zimmer phocomelia"], "xref": ["DOID:0112191", "GARD:0000386", "MEDGEN:419746", "MESH:C536500", "OMIMPS:273395", "Orphanet:3301", "SCTID:716249009", "UMLS:C2931218"]}
{"category": ["biolink:Disease"], "description": "Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.", "id": "MONDO:0010111", "name": "Odontotrichomelic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Freire-Maia odontotrichomelic syndrome", "Freire-Maia syndrome", "odontotrichomelic hypohidrotic dysplasia", "odontotrichomelic syndrome", "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities"], "xref": ["GARD:0002381", "MEDGEN:443944", "MESH:C535637", "OMIM:273400", "Orphanet:2723", "SCTID:239028001", "UMLS:C2930960", "icd11.foundation:1999951139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010112", "name": "Thalamic degeneration, symmetric infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thalamic degeneration, symmetric infantile"], "xref": ["GARD:0005160", "MEDGEN:419748", "MESH:C536504", "OMIM:273490", "Orphanet:3311", "UMLS:C2931220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010114", "name": "Thanatophoric dysplasia, glasgow variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thanatophoric dysplasia, Glasgow variant"], "xref": ["GARD:0005165", "MEDGEN:376457", "MESH:C536506", "OMIM:273680", "Orphanet:93275", "UMLS:C1848865"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010115", "name": "Thoracic dysplasia-hydrocephalus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["thoracic dysplasia-hydrocephalus syndrome"], "xref": ["GARD:0005180", "MEDGEN:338562", "MESH:C564774", "OMIM:273730", "Orphanet:1861", "UMLS:C1848864"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010116", "name": "Thoracomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rivera-Perez-Salas syndrome", "thoracolimb dysplasia, Rivera type", "thoracomelic dysplasia"], "xref": ["GARD:0010612", "MEDGEN:336441", "MESH:C564773", "OMIM:273740", "Orphanet:1803", "UMLS:C1848863", "icd11.foundation:1284518024"]}
{"category": ["biolink:Disease"], "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.", "id": "MONDO:0010117", "name": "3m syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["3-M syndrome 1", "3-M syndrome caused by mutation in CUL7", "3-M syndrome caused by mutation in Cul7", "CUL7 3-M syndrome", "Cul7 3-M syndrome", "three M syndrome 1", "three M syndrome type 1"], "xref": ["GARD:0015239", "MEDGEN:395592", "OMIM:273750", "UMLS:C2678312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010118", "name": "Inherited threoninemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "synonym": ["threoninemia"], "xref": ["GARD:0024709", "MEDGEN:336439", "OMIM:273770", "UMLS:C1848861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010120", "name": "Thrombocytopenia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["THC3", "thrombocytopenia 3"], "xref": ["GARD:0018288", "MEDGEN:437174", "MESH:C567487", "OMIM:273900", "UMLS:C2678311"]}
{"category": ["biolink:Disease"], "description": "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.", "id": "MONDO:0010121", "name": "Thrombocytopenia-absent radius syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome", "TAR syndrome", "Thrombocytopenia Absent Radius Syndrome", "radial aplasia-thrombocytopenia syndrome", "thrombocytopenia-absent radius syndrome"], "xref": ["DECIPHER:64", "DOID:14699", "GARD:0005116", "ICD9:759.89", "MEDGEN:61235", "MESH:C536940", "MedDRA:10071719", "NANDO:2200661", "NCIT:C99038", "NORD:1768", "OMIM:274000", "Orphanet:3320", "SCTID:85589009", "UMLS:C0175703"]}
{"category": ["biolink:Disease"], "description": "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.", "id": "MONDO:0010122", "name": "Congenital thrombotic thrombocytopenic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Upshaw-Schulman syndrome", "congenital ADAMTS-13 deficiency", "congenital ADAMTS13 deficiency", "congenital TTP", "congenital thrombotic thrombocytopenic purpura", "familial TTP", "hereditary thrombotic thrombocytopenic purpura", "thrombotic thrombocytopenic purpura, hereditary"], "xref": ["GARD:0009430", "ICD9:287.33", "MEDGEN:224783", "NANDO:1200317", "NCIT:C131657", "OMIM:274150", "Orphanet:93583", "SCTID:373420004", "UMLS:C1268935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010124", "name": "Thumb, distal hyperextensibility of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thumb, distal hyperextensibility of"], "xref": ["MEDGEN:338552", "OMIM:274200", "UMLS:C1848817"]}
{"category": ["biolink:Disease"], "description": "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.", "id": "MONDO:0010125", "name": "Upper limb defect-eye and ear abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016602", "MEDGEN:376448", "MESH:C564769", "OMIM:274205", "Orphanet:2489", "UMLS:C1848816"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010126", "name": "Thymic aplasia with fetal death", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thymic aplasia with fetal death"], "xref": ["MEDGEN:341312", "MESH:C564768", "OMIM:274210", "UMLS:C1848815"]}
{"category": ["biolink:Disease"], "description": "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0010127", "name": "Thymoma, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary thymoma (disease)", "thymoma, familial"], "xref": ["GARD:0024710", "MEDGEN:376447", "MESH:C564767", "OMIM:274230", "UMLS:C1848814"]}
{"category": ["biolink:Disease"], "description": "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.", "id": "MONDO:0010128", "name": "Thyrocerebrorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cutler Bass Romshe syndrome", "Cutler-Bass-Romshe syndrome", "thyrocerebroretinal syndrome"], "xref": ["GARD:0001646", "MEDGEN:341311", "MESH:C536908", "OMIM:274240", "Orphanet:3327", "SCTID:733096007", "UMLS:C1848813"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.", "id": "MONDO:0010129", "name": "Thymic-renal-anal-lung dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thymic-renal-anal-lung dysplasia"], "xref": ["GARD:0005202", "MEDGEN:336425", "MESH:C536907", "OMIM:274265", "Orphanet:3326", "SCTID:723555007", "UMLS:C1848812"]}
{"category": ["biolink:Disease"], "description": "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.", "id": "MONDO:0010130", "name": "Dihydropyrimidine dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYPD deficiency", "dihydropyrimidine dehydrogenase deficiency", "dihydrouracil dehydrogenase deficiency", "familial pyrimidinaemia", "familial pyrimidinemia", "thymine-uracilurea"], "xref": ["DOID:14218", "GARD:0000019", "ICD9:277.2", "MEDGEN:409522", "MESH:D054067", "MedDRA:10052622", "NCIT:C84672", "OMIM:274270", "Orphanet:1675", "SCTID:77365006", "UMLS:C1959620", "icd11.foundation:701689290"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.", "id": "MONDO:0010131", "name": "Thyroid hormone resistance, generalized, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["thyroid hormone resistance, autosomal recessive", "thyroid hormone resistance, generalized, autosomal recessive"], "xref": ["GARD:0024711", "HGNC:11799", "MEDGEN:483749", "MESH:C567936", "NANDO:1200395", "NANDO:2100121", "NANDO:2200341", "NCIT:C85191", "OMIM:274300", "UMLS:C3489796"]}
{"category": ["biolink:Disease"], "description": "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.", "id": "MONDO:0010132", "name": "Familial thyroid dyshormonogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nongoitrous hyperthyrotropinemia", "thyroid dyshormonogenesis"], "xref": ["DOID:0112183", "GARD:0016843", "MEDGEN:903446", "MESH:C564766", "NCIT:C121751", "OMIMPS:274400", "Orphanet:95716", "SCTID:718183003", "UMLS:C4273748"]}
{"category": ["biolink:Disease"], "description": "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.", "id": "MONDO:0010133", "name": "Thyroid dyshormonogenesis 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TDH2A", "TPO familial thyroid dyshormonogenesis", "familial thyroid dyshormonogenesis caused by mutation in TPO", "hypothyroidism, congenital, due to dyshormonogenesis, 2A", "thyroid dyshormonogenesis 2A", "thyroid dyshormonogenesis type 2A", "thyroid hormonogenesis, genetic defect in, 2A"], "xref": ["DOID:0112186", "GARD:0018189", "ICD9:277.6", "MEDGEN:226940", "MESH:C563206", "NCIT:C121750", "OMIM:274500", "SCTID:124204003", "UMLS:C1291299"]}
{"category": ["biolink:Disease"], "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.", "id": "MONDO:0010134", "name": "Pendred syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pendred syndrome", "TDH2B", "deafness with goiter", "deafness with goitre", "goiter-deafness syndrome", "hypothyroidism, congenital, due to dyshormonogenesis, 2B", "thyroid dyshormonogenesis 2B", "thyroid hormonogenesis, genetic defect in, 2B"], "xref": ["DOID:0060744", "GARD:0004271", "MEDGEN:82890", "MESH:C536648", "NCIT:C121745", "NORD:2030", "OMIM:274600", "Orphanet:705", "SCTID:70348004", "UMLS:C0271829", "icd11.foundation:1156056623"]}
{"category": ["biolink:Disease"], "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.", "id": "MONDO:0010135", "name": "Thyroid dyshormonogenesis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TDH3", "TG familial thyroid dyshormonogenesis", "familial thyroid dyshormonogenesis caused by mutation in TG", "hypothyroidism, congenital, due to dyshormonogenesis, 3", "thyroid dyshormonogenesis 3", "thyroid dyshormonogenesis type 3", "thyroid hormonogenesis, genetic defect in, 3"], "xref": ["DOID:0112187", "GARD:0018190", "MEDGEN:90976", "MESH:C562769", "OMIM:274700", "SCTID:23536000", "UMLS:C0342194"]}
{"category": ["biolink:Disease"], "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.", "id": "MONDO:0010136", "name": "Thyroid dyshormonogenesis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IYD familial thyroid dyshormonogenesis", "TDH4", "familial thyroid dyshormonogenesis caused by mutation in IYD", "hypothyroidism, congenital, due to dyshormonogenesis, 4", "thyroid dyshormonogenesis 4", "thyroid dyshormonogenesis type 4", "thyroid hormonogenesis, genetic defect in, 4"], "xref": ["DOID:0112188", "GARD:0018191", "MEDGEN:87429", "MESH:C562770", "OMIM:274800", "SCTID:17885001", "UMLS:C0342195"]}
{"category": ["biolink:Disease"], "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.", "id": "MONDO:0010137", "name": "Thyroid dyshormonogenesis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DUOXA2 familial thyroid dyshormonogenesis", "TDH5", "familial thyroid dyshormonogenesis caused by mutation in DUOXA2", "hypothyroidism, congenital, due to dyshormonogenesis, 5", "thyroid dyshormonogenesis 5", "thyroid dyshormonogenesis type 5", "thyroid hormonogenesis, genetic defect in, 5"], "xref": ["DOID:0112184", "GARD:0018192", "MEDGEN:87430", "MESH:C562771", "OMIM:274900", "SCTID:63127008", "UMLS:C0342196"]}
{"category": ["biolink:Disease"], "description": "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.", "id": "MONDO:0010138", "name": "Thyrotoxicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:predisposition"], "xref": ["DOID:7997", "EFO:0009190", "ICD10CM:E05", "ICD9:242", "ICD9:242.80", "ICD9:242.90", "MEDGEN:11814", "MESH:D013971", "NCIT:C61469", "SCTID:90739004", "UMLS:C0040156", "icd11.foundation:1470387017"]}
{"category": ["biolink:Disease"], "description": "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.", "id": "MONDO:0010139", "name": "Isolated thyroid-stimulating hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHNG4", "hypothyroidism, congenital, nongoitrous 4", "hypothyroidism, congenital, nongoitrous, type 4", "isolated TSH deficiency", "isolated thyrotropin deficiency"], "xref": ["DOID:0070123", "GARD:0010129", "MEDGEN:78786", "OMIM:275100", "Orphanet:90674", "UMLS:C0271789"]}
{"category": ["biolink:Disease"], "description": "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.", "id": "MONDO:0010140", "name": "Isolated thyrotropin-releasing hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated TRF deficiency", "isolated TRH deficiency", "isolated TSH-releasing factor deficiency", "isolated prothyroliberin deficiency", "isolated protirelin deficiency", "isolated thyroliberin deficiency", "isolated thyrotropin-releasing factor deficiency", "tertiary hypothyroidism"], "xref": ["GARD:0017179", "ICD9:253.4", "MEDGEN:854700", "NCIT:C121741", "OMIM:275120", "Orphanet:238670", "SCTID:10736002", "UMLS:C3887992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010141", "name": "Tiglic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tiglic acidemia"], "xref": ["ICD9:270.8", "MEDGEN:376443", "MESH:C536921", "OMIM:275190", "SCTID:444755001", "UMLS:C1848793"]}
{"category": ["biolink:Disease"], "description": "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.", "id": "MONDO:0010142", "name": "Hypothyroidism due to tsh receptor mutations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHNG1", "TSH resistance", "hypothyroidism, congenital, nongoitrous, type 1"], "xref": ["DOID:0070126", "GARD:0016793", "MEDGEN:487729", "OMIM:275200", "Orphanet:90673", "UMLS:C3493776"]}
{"category": ["biolink:Disease"], "description": "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.", "id": "MONDO:0010144", "name": "Tibial hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital absence of tibia", "congenital aplasia and dysplasia of the tibia with intact fibula", "congenital longitudinal deficiency of the tibia", "tibial hemimelia", "tibial longitudinal meromelia"], "xref": ["GARD:0008707", "MEDGEN:120551", "MESH:C535563", "OMIM:275220", "Orphanet:93322", "SCTID:79177001", "UMLS:C0265633", "icd11.foundation:1111258427"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010145", "name": "Tibia, absence of, with congenital deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tibia, absence of, with congenital deafness"], "xref": ["MEDGEN:336413", "MESH:C564764", "OMIM:275230", "UMLS:C1848758"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.", "id": "MONDO:0010146", "name": "Kerion celsi", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003109", "MEDGEN:124446", "OMIM:275240", "Orphanet:499", "SCTID:19087001", "UMLS:C0276742", "icd11.foundation:1449494917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010147", "name": "Tongue, pigmented fungiform papillae of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tongue, pigmented fungiform papillae of"], "xref": ["MEDGEN:336411", "OMIM:275250", "UMLS:C1848756"]}
{"category": ["biolink:Disease"], "description": "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.", "id": "MONDO:0010148", "name": "Mounier-kuhn syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mounier-Kuhn syndrome", "congenital tracheobronchomegaly", "idiopathic tracheobronchomegaly", "tracheobronchomegaly"], "xref": ["GARD:0003793", "ICD9:748.3", "MEDGEN:11871", "MESH:D014137", "MedDRA:10044316", "NCIT:C85196", "OMIM:275300", "Orphanet:3347", "SCTID:57451009", "UMLS:C0040587"]}
{"category": ["biolink:Disease"], "description": "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.", "id": "MONDO:0010149", "name": "Transcobalamin ii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TCN2 deficiency", "inherited deficiency of transcobalamin", "transcobalamin II deficiency"], "xref": ["DOID:0050818", "GARD:0012338", "ICD10CM:D51.2", "MEDGEN:137976", "NCIT:C142806", "OMIM:275350", "Orphanet:859", "SCTID:237934001", "UMLS:C0342701"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.", "id": "MONDO:0010150", "name": "Head and neck squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HNSCC", "SCCHN", "craniocervical region squamous cell carcinoma", "head and neck squamous cell carcinoma", "squamous cell carcinoma of head and neck", "squamous cell carcinoma of the head and neck", "squamous cell carcinoma, head and neck, somatic"], "xref": ["DOID:5520", "EFO:0000181", "GARD:0008503", "MEDGEN:257911", "MESH:C535575", "MedDRA:10060121", "NCIT:C34447", "OMIM:275355", "ONCOTREE:HNSC", "Orphanet:67037", "SCTID:716659002", "UMLS:C1168401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010151", "name": "Tricarboxylic acid cycle, defect of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tricarboxylic acid cycle, defect of"], "xref": ["GARD:0024712", "MEDGEN:376430", "MESH:C564762", "OMIM:275370", "UMLS:C1848746"]}
{"category": ["biolink:Disease"], "description": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.", "id": "MONDO:0010152", "name": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oliver-McFarlane syndrome", "long eyelashes-intellectual disability syndrome"], "xref": ["DOID:0111271", "GARD:0005266", "MEDGEN:338532", "MESH:C536554", "OMIM:275400", "Orphanet:3363", "SCTID:719944006", "UMLS:C1848745"]}
{"category": ["biolink:Disease"], "description": "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.", "id": "MONDO:0010153", "name": "Trichoodontoonychial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["trichoodontoonychial dysplasia with bone deficiency in frontoparietal region"], "xref": ["GARD:0005267", "MEDGEN:481087", "MESH:C564760", "OMIM:275450", "Orphanet:3355", "SCTID:766813000", "UMLS:C3279457"]}
{"category": ["biolink:Disease"], "description": "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.", "id": "MONDO:0010154", "name": "Trigonocephaly-bifid nose-acral anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005126", "MEDGEN:341296", "MESH:C564759", "OMIM:275595", "Orphanet:3368", "UMLS:C1848743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010155", "name": "Dorfman-chanarin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chanarin-Dorfman Syndrome", "Chanarin-Dorfman syndrome", "NLSDI", "neutral lipid storage disease with ichthyosis"], "xref": ["GARD:0003979", "MEDGEN:82780", "NANDO:1200622", "NANDO:1200623", "NANDO:2200997", "NORD:1283", "OMIM:275630", "Orphanet:98907", "SCTID:19604005", "UMLS:C0268238", "icd11.foundation:690728790"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.", "id": "MONDO:0010156", "name": "Troyer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG20", "Troyer syndrome", "autosomal recessive spastic paraplegia type 20", "childhood-onset spastic paraparesis-distal muscle wasting syndrome", "spastic paraplegia 20 (Troyer syndrome)"], "xref": ["DOID:0050886", "GARD:0005372", "ICD9:335.29", "MEDGEN:97950", "MESH:C536858", "OMIM:275900", "Orphanet:101000", "SCTID:230264003", "UMLS:C0393559"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010157", "name": "Tryptophanuria with dwarfism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tryptophanuria with dwarfism"], "xref": ["ICD9:259.4", "MEDGEN:78680", "MESH:C562658", "OMIM:276100", "SCTID:12045002", "UMLS:C0268473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010158", "name": "T-substance anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["T-substance anomaly"], "xref": ["MEDGEN:338528", "OMIM:276200", "UMLS:C1848724"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.", "id": "MONDO:0010159", "name": "Mismatch repair cancer syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BTP1 syndrome", "MLH1-related constitutional mismatch repair deficiency syndrome", "MMRCS1", "Turcot Syndrome", "brain tumor-polyposis syndrome 1", "mismatch repair cancer syndrome 1"], "xref": ["GARD:0000420", "MEDGEN:1748029", "MESH:C536928", "NORD:1805", "OMIM:276300", "SCTID:61665008", "UMLS:C5399763"]}
{"category": ["biolink:Disease"], "description": "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.", "id": "MONDO:0010160", "name": "Tyrosinemia type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richner-Hanhart syndrome", "keratosis palmoplantaris-corneal dystrophy syndrome", "oculocutaneous tyrosinemia", "tyrosinemia due to TAT deficiency", "tyrosinemia due to tyrosine aminotransferase deficiency", "tyrosinemia type II"], "xref": ["DOID:0050725", "GARD:0003105", "MEDGEN:75687", "MedDRA:10069463", "NANDO:1200789", "NANDO:2200469", "NCIT:C129032", "OMIM:276600", "Orphanet:28378", "SCTID:4887000", "UMLS:C0268487", "icd11.foundation:1900229795"]}
{"category": ["biolink:Disease"], "description": "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.", "id": "MONDO:0010161", "name": "Tyrosinemia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAH deficiency", "Tyrosinemia Type 1", "fumarylacetoacetase deficiency", "fumarylacetoacetate hydrolase deficiency", "hepatorenal tyrosinemia", "type I tyrosinemia", "tyrosinemia type I"], "xref": ["DOID:0050726", "GARD:0002658", "MEDGEN:75688", "MedDRA:10069462", "NANDO:1200788", "NANDO:2200468", "NCIT:C98641", "NORD:1811", "OMIM:276700", "Orphanet:882", "SCTID:410056006", "UMLS:C0268490", "icd11.foundation:2029519782"]}
{"category": ["biolink:Disease"], "description": "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.", "id": "MONDO:0010162", "name": "Tyrosinemia type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency", "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency", "tyrosinemia due to HPD deficiency", "tyrosinemia type III"], "xref": ["DOID:0050727", "GARD:0010332", "ICD9:270.2", "MEDGEN:78694", "MedDRA:10069461", "NANDO:1200790", "NANDO:2200470", "OMIM:276710", "Orphanet:69723", "SCTID:415764005", "UMLS:C0268623"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010163", "name": "Tyrosinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tyrosinosis"], "xref": ["ICD9:270.2", "MEDGEN:78683", "MESH:C562659", "OMIM:276800", "SCTID:57414003", "UMLS:C0268484"]}
{"category": ["biolink:Disease"], "description": "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.", "id": "MONDO:0010164", "name": "Phocomelia, schinzel type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Al Awadi-Raas-Rothschild syndrome", "aplasia/hypoplasia of limbs and pelvis", "congenital absence of ulna and fibula", "severe limb deficit"], "xref": ["DOID:0112181", "GARD:0009212", "MEDGEN:336388", "MESH:C535612", "OMIM:276820", "Orphanet:2879", "SCTID:715522000", "UMLS:C1848651", "icd11.foundation:1732271544"]}
{"category": ["biolink:Disease"], "description": "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.", "id": "MONDO:0010165", "name": "Ulna hypoplasia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005398", "MEDGEN:341275", "MESH:C564757", "OMIM:276821", "Orphanet:2249", "UMLS:C1848650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010166", "name": "Ulnar agenesis and endocardial fibroelastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ulnar agenesis and endocardial fibroelastosis"], "xref": ["MEDGEN:336387", "MESH:C564756", "OMIM:276822", "UMLS:C1848649"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.", "id": "MONDO:0010167", "name": "Urocanic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["encephalopathy due to urocanase deficiency", "urocanic aciduria", "urocanic aciduria (disease)"], "xref": ["DOID:0112180", "GARD:0008539", "HP:0012237", "MEDGEN:120644", "MESH:C536479", "OMIM:276880", "Orphanet:210128", "SCTID:60952007", "UMLS:C0268514", "icd11.foundation:61773927"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.", "id": "MONDO:0010168", "name": "Usher syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["USH1", "Usher syndrome type 1", "Usher syndrome, type 1", "retinitis pigmentosa and congenital deafness"], "xref": ["DOID:0110826", "GARD:0005435", "MEDGEN:292820", "NANDO:1200942", "NCIT:C126327", "Orphanet:231169", "SCTID:232057003", "UMLS:C1568247", "icd11.foundation:237039059"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.", "id": "MONDO:0010169", "name": "Usher syndrome type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["USH2A", "USH2A Usher syndrome", "Usher syndrome caused by mutation in USH2A", "Usher syndrome type 2A", "retinal disease in usher syndrome type IIA, modifier of"], "xref": ["DOID:0110838", "GARD:0015241", "MEDGEN:338513", "MESH:C536490", "OMIM:276901", "UMLS:C1848634"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.", "id": "MONDO:0010170", "name": "Usher syndrome type 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLRN1 Usher syndrome", "USH3A", "Usher syndrome caused by mutation in CLRN1", "Usher syndrome type 3A"], "xref": ["DOID:0110841", "GARD:0015242", "MEDGEN:1830415", "OMIM:276902", "UMLS:C5779850"]}
{"category": ["biolink:Disease"], "description": "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.", "id": "MONDO:0010171", "name": "Usher syndrome type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["USH1C", "Usher syndrome type 1C"], "xref": ["DOID:0110830", "GARD:0005437", "MEDGEN:338506", "OMIM:276904", "UMLS:C1848604"]}
{"category": ["biolink:Disease"], "description": "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.", "id": "MONDO:0010172", "name": "Vacterl with hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sujansky-Leonard syndrome"], "xref": ["GARD:0000272", "MEDGEN:376400", "OMIM:276950", "Orphanet:3412", "UMLS:C1848599", "icd11.foundation:1646268729"]}
{"category": ["biolink:Disease"], "description": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.", "id": "MONDO:0010173", "name": "Mayer-rokitansky-kuster-hauser syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MRKH syndrome type 1", "Rokitansky sequence", "congenital absence of uterus and vagina"], "xref": ["DOID:0112178", "GARD:0004737", "ICD9:752.49", "MEDGEN:1797978", "OMIM:277000", "Orphanet:247775", "UMLS:C5566555"]}
{"category": ["biolink:Disease"], "description": "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.", "id": "MONDO:0010174", "name": "Valinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Valinemia"], "xref": ["MEDGEN:120652", "MESH:C536524", "OMIM:277100", "SCTID:47719001", "UMLS:C0268573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010175", "name": "Van bogaert-hozay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["van Bogaert-Hozay syndrome"], "xref": ["MEDGEN:341263", "MESH:C536526", "OMIM:277150", "UMLS:C1848598"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.", "id": "MONDO:0010176", "name": "Orofaciodigital syndrome type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Joubert syndrome with oral-facial-digital syndrome", "Joubert syndrome with orofaciodigital defect", "OFD6", "Varadi syndrome", "Varadi-Papp syndrome", "oral-facial-digital syndrome type 6", "orofaciodigital syndrome VI", "orofaciodigital syndrome type 6", "polydactyly-cleft lip/palate-psychomotor retardation syndrome"], "xref": ["DOID:0060376", "GARD:0004412", "MEDGEN:411200", "MESH:C536531", "NCIT:C124841", "OMIM:277170", "Orphanet:2754", "SCTID:721873007", "UMLS:C2745997"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.", "id": "MONDO:0010177", "name": "Vascular hyalinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Rambaud-Gallian syndrome", "Rambaud-Gallian-Touchard syndrome", "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome", "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome", "vascular hyalinosis"], "xref": ["GARD:0004635", "MEDGEN:376398", "MESH:C564750", "OMIM:277175", "Orphanet:3018", "UMLS:C1848590"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.", "id": "MONDO:0010178", "name": "Congenital bilateral aplasia of vas deferens from cftr mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111864", "GARD:0015243", "MEDGEN:98021", "NCIT:C129303", "OMIM:277180", "UMLS:C0403814"]}
{"category": ["biolink:Disease"], "description": "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.", "id": "MONDO:0010179", "name": "Isolated right ventricular hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004721", "MEDGEN:336377", "MESH:C535682", "OMIM:277200", "Orphanet:439", "SCTID:718135001", "UMLS:C1848587"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.", "id": "MONDO:0010180", "name": "Autosomal recessive spondylocostal dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jarcho-Levin syndrome", "spondylocostal dysostosis, autosomal recessive"], "xref": ["GARD:0006798", "ICD9:756.9", "MESH:C535781", "Orphanet:2311", "SCTID:61367005"]}
{"category": ["biolink:Disease"], "description": "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.", "id": "MONDO:0010181", "name": "Oculogastrointestinal muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["visceral myopathy-familial external ophthalmoplegia syndrome"], "xref": ["GARD:0005496", "MEDGEN:336376", "OMIM:277320", "Orphanet:1876", "SCTID:722060007", "UMLS:C1848586", "icd11.foundation:1205053137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010182", "name": "Hypercarotenemia and vitamin a deficiency, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypercarotenemia and vitamin A deficiency, autosomal recessive"], "xref": ["GARD:0018302", "MEDGEN:395578", "MESH:C567486", "OMIM:277350", "UMLS:C2678266"]}
{"category": ["biolink:Disease"], "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.", "id": "MONDO:0010183", "name": "Methylmalonic aciduria and homocystinuria type cblf", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["cblF defect", "cobalamin F defect", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF", "inherited methylmalonic acidemia and homocystinuria", "lysosomal membrane cobalamin transporter deficiency", "methylmalonic aciduria and homocystinuria type cblF", "methylmalonic aciduria with homocystinuria, type cblF"], "xref": ["DOID:0050717", "GARD:0003584", "MEDGEN:336373", "MESH:C564747", "NANDO:2201110", "OMIM:277380", "Orphanet:79284", "SCTID:80887004", "UMLS:C1848578"]}
{"category": ["biolink:Disease"], "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.", "id": "MONDO:0010184", "name": "Methylmalonic aciduria and homocystinuria type cblc", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["cblC defect", "cobalamin C defect", "cobalamin c disease", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "methylmalonic aciduria and homocystinuria type cblC", "methylmalonic aciduria with homocystinuria, type cblC"], "xref": ["DOID:0050715", "GARD:0012128", "MEDGEN:341256", "NANDO:1201040", "NANDO:2201107", "NCIT:C142174", "OMIM:277400", "Orphanet:79282", "SCTID:74653006", "UMLS:C1848561"]}
{"category": ["biolink:Disease"], "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.", "id": "MONDO:0010185", "name": "Methylmalonic aciduria and homocystinuria type cbld", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["cblD defect", "cobalamin D defect", "cobalamin d disease", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD", "methylmalonic aciduria and homocystinuria type cblD", "methylmalonic aciduria with homocystinuria, type cblD"], "xref": ["DOID:0050716", "GARD:0003582", "MEDGEN:341253", "MESH:C564743", "NANDO:1200797", "NANDO:2201108", "OMIM:277410", "Orphanet:79283", "SCTID:31220004", "UMLS:C1848552"]}
{"category": ["biolink:Disease"], "description": "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.", "id": "MONDO:0010186", "name": "Vitamin d-dependent rickets, type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VDR vitamin D-dependent rickets, type 2", "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia", "rickets, vitamin D-resistant, type IIA", "vitamin D dependent rickets 2a", "vitamin D receptor deficiency rickets", "vitamin D-dependent rickets, type 2 caused by mutation in VDR", "vitamin D-dependent rickets, type 2A", "vitamin d-dependent rickets type II with alopecia"], "xref": ["DOID:0080884", "GARD:0018169", "MEDGEN:90989", "MESH:C562794", "NCIT:C131075", "OMIM:277440", "SCTID:237894002", "UMLS:C0342646"]}
{"category": ["biolink:Disease"], "description": "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.", "id": "MONDO:0010187", "name": "Vitamin k-dependent clotting factors, combined deficiency of, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["GGCX congenital vitamin K-dependent coagulation factors combined deficiency", "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX", "hereditary combined deficiency of factors II, VII, IX and X", "vitamin K-dependent clotting factors, combined deficiency of, type 1"], "xref": ["DOID:0112173", "GARD:0018195", "MEDGEN:376381", "MESH:C564741", "OMIM:277450", "SCTID:724356003", "UMLS:C1848534"]}
{"category": ["biolink:Disease"], "description": "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.", "id": "MONDO:0010188", "name": "Familial isolated deficiency of vitamin e", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AVED", "Ataxia with Vitamin E Deficiency", "Friedreich-like ataxia", "ataxia with isolated vitamin E deficiency", "familial isolated deficiency of vitamin type E", "familial isolated vitamin E deficiency", "isolated vitamin E deficiency"], "xref": ["DOID:0090028", "GARD:0008595", "ICD9:269.1", "ICD9:334.3", "MEDGEN:341248", "MESH:C535393", "MedDRA:10047631", "NANDO:1200050", "NORD:817", "OMIM:277460", "Orphanet:96", "SCTID:702442008", "UMLS:C1848533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010189", "name": "Vitiligo, progressive, with intellectual disability and urethral duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vitiligo, progressive, with intellectual disability and urethral duplication", "vitiligo, progressive, with mental retardation and urethral duplication"], "xref": ["MEDGEN:336363", "MESH:C564739", "OMIM:277465", "UMLS:C1848532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010190", "name": "Pontocerebellar hypoplasia type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TSEN54 pontocerebellar hypoplasia type 2", "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54"], "xref": ["DOID:0060267", "GARD:0015244", "MEDGEN:376379", "MESH:C564738", "OMIM:277470", "UMLS:C1848526"]}
{"category": ["biolink:Disease"], "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).", "id": "MONDO:0010191", "name": "Von willebrand disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["VWD3", "von Willebrand disease 3", "von Willebrand disease type 3", "von Willebrand's disease 3", "von Willebrand's disease type 3"], "xref": ["DOID:0111054", "GARD:0017025", "MEDGEN:266075", "MESH:D056729", "NCIT:C85213", "OMIM:277480", "Orphanet:166096", "SCTID:128108002", "UMLS:C1264041"]}
{"category": ["biolink:Disease"], "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.", "id": "MONDO:0010192", "name": "Waardenburg syndrome type 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EDNRB Waardenburg syndrome", "WS4A", "Waardenburg syndrome caused by mutation in EDNRB", "Waardenburg syndrome type 4A"], "xref": ["DOID:0110953", "GARD:0015245", "MEDGEN:341244", "OMIM:277580", "UMLS:C1848519"]}
{"category": ["biolink:Disease"], "description": "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.", "id": "MONDO:0010193", "name": "Weaver syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Weaver syndrome", "camptodactyly-overgrowth-unusual facies syndrome"], "xref": ["DOID:14731", "GARD:0007878", "GTR:AN0102079", "GTR:AN0102080", "ICD9:759.89", "MEDGEN:120511", "MESH:C536687", "NANDO:1200659", "NANDO:2200957", "NCIT:C125599", "NORD:1839", "OMIM:277590", "Orphanet:3447", "SCTID:63119004", "UMLS:C0265210", "icd11.foundation:2042913723"]}
{"category": ["biolink:Disease"], "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.", "id": "MONDO:0010194", "name": "Weill-marchesani syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADAMTS10 Weill-Marchesani syndrome", "Weill-Marchesani syndrome 1", "Weill-Marchesani syndrome 1, recessive", "Weill-Marchesani syndrome caused by mutation in ADAMTS10", "Weill-Marchesani syndrome type 1"], "xref": ["DOID:0061273", "GARD:0015246", "MEDGEN:1637058", "OMIM:277600", "UMLS:C4552002"]}
{"category": ["biolink:Disease"], "description": "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.", "id": "MONDO:0010196", "name": "Werner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WS", "Werner syndrome", "Werner's syndrome", "adult premature aging syndrome", "adult progeria"], "xref": ["DOID:5688", "GARD:0007885", "ICD9:259.8", "MEDGEN:12147", "MESH:D014898", "MedDRA:10049429", "NANDO:1200676", "NANDO:2200831", "NCIT:C3447", "NORD:1845", "OMIM:277700", "Orphanet:902", "SCTID:51626007", "UMLS:C0043119", "icd11.foundation:1864550134"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010197", "name": "Whistling face syndrome, recessive form", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["whistling face syndrome, recessive form"], "xref": ["DOID:0111606", "GARD:0010024", "MEDGEN:376364", "MESH:C536699", "OMIM:277720", "UMLS:C1848470"]}
{"category": ["biolink:Disease"], "description": "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.", "id": "MONDO:0010198", "name": "Wernicke-korsakoff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Wernicke-Korsakoff syndrome"], "xref": ["DOID:10915", "EFO:1001242", "GARD:0027793", "MEDGEN:83883", "MESH:C538669", "MedDRA:10047913", "NCIT:C35764", "OMIM:277730", "SCTID:69482004", "UMLS:C0349464", "icd11.foundation:2017611840"]}
{"category": ["biolink:Disease"], "description": "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.", "id": "MONDO:0010199", "name": "White forelock with malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["white forelock with malformations"], "xref": ["GARD:0010081", "MEDGEN:376362", "MESH:C536700", "OMIM:277740", "Orphanet:2475", "SCTID:763619009", "UMLS:C1848463"]}
{"category": ["biolink:Disease"], "description": "A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.", "id": "MONDO:0010200", "name": "Wilson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Westphal-Strumpell syndrome", "Wilson disease", "Wilson's disease", "hepatolenticular degeneration"], "xref": ["DOID:893", "GARD:0007893", "ICD10CM:E83.01", "MEDGEN:42426", "MESH:D006527", "MedDRA:10019819", "NANDO:1200655", "NANDO:2200579", "NCIT:C84756", "NORD:1856", "OMIM:277900", "Orphanet:905", "SCTID:88518009", "UMLS:C0019202", "icd11.foundation:468161208"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010201", "name": "Winchester syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["MMP14-related multicentric osteolysis, nodulosis, and arthropathy", "MONA, MMP14-related", "WNCHRS", "Winchester syndrome", "multicentric osteolysis, nodulosis and arthropathy, MMP14-related"], "xref": ["DOID:0080696", "GARD:0007894", "ICD9:733.29", "MEDGEN:98152", "MESH:C536709", "NCIT:C170731", "NORD:1857", "OMIM:277950", "SCTID:254151006", "UMLS:C0432289"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.", "id": "MONDO:0010203", "name": "Intellectual disability, wolff type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wolff-Zimmermann syndrome"], "xref": ["GARD:0003530", "MEDGEN:336345", "MESH:C537448", "OMIM:277990", "Orphanet:3080", "UMLS:C1848439"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.", "id": "MONDO:0010206", "name": "Hypotrichosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT8", "LAH3", "LPAR6 hypotrichosis", "hypotrichosis 8", "hypotrichosis caused by mutation in LPAR6", "hypotrichosis type 8", "hypotrichosis, localized, autosomal recessive 3"], "xref": ["DOID:0110705", "GARD:0015247", "MEDGEN:481100", "MESH:C566950", "OMIM:278150", "UMLS:C3279470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010207", "name": "Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Salamon syndrome", "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome"], "xref": ["GARD:0005594", "MEDGEN:98033", "MESH:C536746", "OMIM:278200", "Orphanet:1409", "SCTID:239023005", "UMLS:C0406718"]}
{"category": ["biolink:Disease"], "description": "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).", "id": "MONDO:0010208", "name": "Wrinkly skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["WSS", "wrinkled skin syndrome", "wrinkly skin syndrome"], "xref": ["DOID:0112171", "GARD:0000273", "ICD9:259.8", "MEDGEN:98030", "MESH:C536750", "OMIM:278250", "Orphanet:2834", "SCTID:238875009", "UMLS:C0406587", "icd11.foundation:638767040"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.", "id": "MONDO:0010209", "name": "Xanthinuria type i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["XAN1", "isolated xanthine oxidase deficiency", "xanthinuria type 1", "xanthinuria type I", "xanthinuria, type 1", "xanthinuria, type I"], "xref": ["DOID:0070452", "GARD:0005621", "MEDGEN:82771", "MESH:C562584", "OMIM:278300", "Orphanet:93601", "SCTID:72682008", "UMLS:C0268118"]}
{"category": ["biolink:Disease"], "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.", "id": "MONDO:0010210", "name": "Xeroderma pigmentosum group a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["XP-A", "XP1", "XPA", "XPA xeroderma pigmentosum", "xeroderma pigmentosum 1", "xeroderma pigmentosum caused by mutation in XPA", "xeroderma pigmentosum group A", "xeroderma pigmentosum group type A", "xeroderma pigmentosum, complementation group type a", "xeroderma pigmentosum, group A"], "xref": ["DOID:0110843", "GARD:0005624", "MEDGEN:82775", "NCIT:C3965", "OMIM:278700", "Orphanet:276249", "SCTID:43477006", "UMLS:C0268135"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.", "id": "MONDO:0010211", "name": "Xeroderma pigmentosum group c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["XP-C", "XP3", "XPC", "XPCC", "xeroderma pigmentosum group C", "xeroderma pigmentosum group type C", "xeroderma pigmentosum, complementation group type C", "xeroderma pigmentosum, group C"], "xref": ["DOID:0110844", "GARD:0005626", "MEDGEN:416702", "MESH:C567886", "NCIT:C114770", "OMIM:278720", "Orphanet:276255", "SCTID:25784009", "UMLS:C2752147"]}
{"category": ["biolink:Disease"], "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.", "id": "MONDO:0010212", "name": "Xeroderma pigmentosum group d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERCC2 xeroderma pigmentosum", "XP-D", "XP4", "XPD", "XPDC", "xeroderma pigmentosum caused by mutation in ERCC2", "xeroderma pigmentosum group D", "xeroderma pigmentosum group type D", "xeroderma pigmentosum, complementation group type D", "xeroderma pigmentosum, group D"], "xref": ["DOID:0110845", "GARD:0016452", "MEDGEN:75656", "MESH:C562591", "NCIT:C3967", "OMIM:278730", "Orphanet:276258", "SCTID:68637004", "UMLS:C0268138"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.", "id": "MONDO:0010213", "name": "Xeroderma pigmentosum group e", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["XP-E", "XP5", "XPE", "xeroderma pigmentosum group E", "xeroderma pigmentosum group type E", "xeroderma pigmentosum, complementation group type E", "xeroderma pigmentosum, group E, DDB-negative subtype"], "xref": ["DOID:0110846", "GARD:0005627", "MEDGEN:341219", "MESH:C564732", "NCIT:C114771", "OMIM:278740", "Orphanet:276261", "SCTID:56048001", "UMLS:C1848411"]}
{"category": ["biolink:Disease"], "description": "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.", "id": "MONDO:0010214", "name": "Xeroderma pigmentosum variant type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XPV", "photosensitivity with defective DNA synthesis", "xeroderma pigmentosum variant type", "xeroderma pigmentosum with normal DNA repair rates"], "xref": ["DOID:0110847", "GARD:0005630", "MEDGEN:376352", "MESH:C536766", "NCIT:C141367", "OMIM:278750", "Orphanet:90342", "UMLS:C1848410"]}
{"category": ["biolink:Disease"], "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.", "id": "MONDO:0010215", "name": "Xeroderma pigmentosum group f", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERCC4 xeroderma pigmentosum", "XP, group F", "XP-F", "XP6", "XPF", "xeroderma pigmentosum caused by mutation in ERCC4", "xeroderma pigmentosum group F", "xeroderma pigmentosum group type F", "xeroderma pigmentosum, complementation group type F", "xeroderma pigmentosum, group F"], "xref": ["DOID:0110848", "GARD:0005628", "MEDGEN:120612", "MESH:C562592", "NCIT:C3968", "OMIM:278760", "Orphanet:276264", "SCTID:42530008", "UMLS:C0268140"]}
{"category": ["biolink:Disease"], "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.", "id": "MONDO:0010216", "name": "Xeroderma pigmentosum group g", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERCC5 xeroderma pigmentosum", "XP-G", "XP7", "XPG", "xeroderma pigmentosum caused by mutation in ERCC5", "xeroderma pigmentosum group G", "xeroderma pigmentosum group type G", "xeroderma pigmentosum, complementation group type G", "xeroderma pigmentosum, group G", "xeroderma pigmentosum, group G/Cockayne syndrome"], "xref": ["DOID:0110849", "GARD:0005629", "MEDGEN:75657", "MESH:C562593", "NCIT:C3969", "OMIM:278780", "Orphanet:276267", "SCTID:36454001", "UMLS:C0268141"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.", "id": "MONDO:0010217", "name": "De sanctis-cacchione syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["De Sanctis Cacchione Syndrome", "de Sanctis-Cacchione syndrome"], "xref": ["DOID:0112158", "GARD:0008276", "ICD9:759.89", "MEDGEN:75550", "MESH:C535992", "NCIT:C84666", "NORD:1035", "OMIM:278800", "Orphanet:1569", "SCTID:414673004", "UMLS:C0265201", "icd11.foundation:594988031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010218", "name": "46,xx sex reversal 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XX Sex reversal type 2", "46,XX sex reversal 2", "46XX sex reversal 2"], "xref": ["DOID:0111763", "GARD:0015249", "MEDGEN:411414", "OMIM:278850", "UMLS:C2749215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010219", "name": "Xylosidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["xylosidase deficiency"], "xref": ["MEDGEN:336338", "MESH:C564730", "OMIM:278900", "UMLS:C1848407"]}
{"category": ["biolink:Disease"], "description": "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.", "id": "MONDO:0010220", "name": "Young syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["azoospermia-sinopulmonary infections syndrome", "young syndrome"], "xref": ["DOID:0061226", "GARD:0000341", "ICD9:759.89", "MEDGEN:137934", "MESH:C536718", "MedDRA:10063689", "OMIM:279000", "Orphanet:3471", "SCTID:233666007", "UMLS:C0340037", "icd11.foundation:1628320490"]}
{"category": ["biolink:Disease"], "description": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.", "id": "MONDO:0010221", "name": "Chime syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type"], "xref": ["DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392"]}
{"category": ["biolink:Disease"], "description": "X-linked form of Opitz G/BBB syndrome.", "id": "MONDO:0010222", "name": "X-linked opitz g/bbb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["Opitz G/BBB syndrome, X-linked", "Opitz GBBB syndrome, type I, X-linked recessive", "X-linked Opitz BBB/G syndrome", "X-linked Opitz G/BBB syndrome", "X-linked Opitz syndrome", "XLOS"], "xref": ["GARD:0024713", "MEDGEN:424842", "NORD:1868", "OMIM:300000", "Orphanet:306597", "UMLS:C2936904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010223", "name": "Ichthyosis, x-linked, without steroid sulfatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ichthyosis, X-linked, without steroid sulfatase deficiency"], "xref": ["GARD:0015250", "MEDGEN:341213", "MESH:C564729", "OMIM:300001", "UMLS:C1848387"]}
{"category": ["biolink:Disease"], "description": "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.", "id": "MONDO:0010224", "name": "Corpus callosum agenesis-abnormal genitalia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACC-abnormal genitalia syndrome", "Proud syndrome", "Proud-Levine-Carpenter syndrome", "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome"], "xref": ["DOID:0112151", "GARD:0004528", "MEDGEN:163217", "MESH:C563110", "OMIM:300004", "Orphanet:2508", "SCTID:763797003", "UMLS:C0796124"]}
{"category": ["biolink:Disease"], "description": "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.", "id": "MONDO:0010225", "name": "Dent disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CLCN5 Dent disease", "Dent disease caused by mutation in CLCN5", "Dent disease type 1", "dent disease 1, X-linked recessive", "nephrolithiasis type 1"], "xref": ["DOID:0081453", "GARD:0001804", "MEDGEN:336322", "OMIM:300009", "Orphanet:93622", "SCTID:717789008", "UMLS:C1848336", "icd11.foundation:1984074789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010226", "name": "46,xy sex reversal 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 2", "46,XY sex reversal 2"], "xref": ["DOID:0111777", "GARD:0009159", "MEDGEN:341190", "MESH:C535601", "NANDO:1200404", "OMIM:300018", "UMLS:C1848296"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.", "id": "MONDO:0010227", "name": "Retinitis pigmentosa 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP3", "RPGR retinitis pigmentosa", "retinitis pigmentosa 3", "retinitis pigmentosa caused by mutation in RPGR", "retinitis pigmentosa type 3"], "xref": ["DOID:0110414", "GARD:0010381", "MEDGEN:336999", "MESH:C564520", "OMIM:300029", "UMLS:C1845667"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010228", "name": "Hearing loss, x-linked 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111736", "GARD:0018095", "MEDGEN:854758", "MESH:C564727", "OMIM:300030", "UMLS:C3888089"]}
{"category": ["biolink:Disease"], "description": "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.", "id": "MONDO:0010229", "name": "Alopecia, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["alopecia, congenital", "congenital alopecia"], "xref": ["GARD:0001470", "ICD10CM:Q84.0", "MEDGEN:78581", "MESH:C535981", "NCIT:C35790", "OMIM:300042", "SCTID:2965006", "UMLS:C0265992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010230", "name": "Intellectual disability, x-linked 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX23", "intellectual disability, X-linked 23"], "xref": ["DOID:0112049", "GARD:0022666", "MEDGEN:163234", "MESH:C563144", "OMIM:300046", "UMLS:C0796229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010231", "name": "Intellectual disability, x-linked 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX20", "intellectual disability, X-linked 20"], "xref": ["DOID:0112023", "GARD:0022667", "MEDGEN:208677", "MESH:C563142", "OMIM:300047", "UMLS:C0796226"]}
{"category": ["biolink:Disease"], "description": "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.", "id": "MONDO:0010232", "name": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital short bowel syndrome, X-linked recessive", "intestinal pseudoobstruction, neuronal, X-linked recessive", "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"], "xref": ["DOID:0080681", "GARD:0003017", "MEDGEN:412536", "MESH:C535532", "OMIM:300048", "UMLS:C2746068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010233", "name": "Heterotopia, periventricular, x-linked dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["heterotopia, periventricular, 1, X-linked dominant", "heterotopia, periventricular, Ehlers-Danlos variant", "heterotopia, periventricular, X-linked dominant"], "xref": ["GARD:0007371", "ICD9:742.4", "MEDGEN:376309", "OMIM:300049", "SCTID:448227009", "UMLS:C1848213"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010235", "name": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lindsay-Burn syndrome", "MRXS13", "PPM-X", "X-linked intellectual disability 79", "X-linked intellectual disability with spasticity", "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive", "intellectual disability with psychosis, pyramidal signs, and macroorchidism", "intellectual disability, X-linked, syndromic 13", "intellectual disability, X-linked, syndromic type 13", "mental retardation with psychosis, pyramidal signs, and macroorchidism", "mental retardation, X-linked, syndromic 13", "mental retardation, X-linked, syndromic type 13"], "xref": ["DOID:0060827", "GARD:0003506", "ICD9:758.89", "MEDGEN:163232", "OMIM:300055", "Orphanet:3077", "SCTID:702356009", "UMLS:C0796222"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010236", "name": "Intellectual disability, x-linked 14", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX14", "intellectual disability, X-linked 14"], "xref": ["DOID:0112027", "GARD:0008557", "MEDGEN:163231", "MESH:C537454", "OMIM:300062", "UMLS:C0796220"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.", "id": "MONDO:0010237", "name": "X-linked intellectual disability-plagiocephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hyde Forster-McCarthy-Berry syndrome"], "xref": ["GARD:0002765", "MEDGEN:419824", "MESH:C537512", "OMIM:300064", "Orphanet:2898", "SCTID:719812008", "UMLS:C2931516"]}
{"category": ["biolink:Disease"], "description": "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.", "id": "MONDO:0010238", "name": "Hearing loss, x-linked 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111735", "GARD:0018096", "MEDGEN:376307", "MESH:C564723", "OMIM:300066", "UMLS:C1848204"]}
{"category": ["biolink:Disease"], "description": "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.", "id": "MONDO:0010239", "name": "Lissencephaly type 1 due to doublecortin gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked lissencephaly type 1", "lissencephaly type 1 due to doublecortin gene mutation", "lissencephaly, X-linked", "lissencephaly, X-linked, type 1", "subcortical laminal heterotopia, X-linked"], "xref": ["DOID:0112239", "GARD:0006914", "MEDGEN:1644310", "OMIM:300067", "Orphanet:2148", "SCTID:715780008", "UMLS:C4551968", "icd11.foundation:891064255"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.", "id": "MONDO:0010241", "name": "Congenital stationary night blindness 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CACNA1F congenital stationary night blindness", "CSNB, incomplete, X-linked", "congenital stationary night blindness caused by mutation in CACNA1F", "congenital stationary night blindness type 2A", "night blindness, congenital stationary (incomplete), 2A, X-linked"], "xref": ["DOID:0110871", "GARD:0015251", "MEDGEN:376299", "OMIM:300071", "UMLS:C1848172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010242", "name": "Fetal akinesia syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fetal akinesia syndrome, X-linked"], "xref": ["DOID:0081043", "GARD:0002293", "MEDGEN:341166", "MESH:C537921", "OMIM:300073", "UMLS:C1848171"]}
{"category": ["biolink:Disease"], "description": "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.", "id": "MONDO:0010243", "name": "X-linked immunoneurologic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Woods Black Norbury syndrome", "Woods-Black-Norbury syndrome", "Woods-Black-Norbury syndrome, X-linked dominant", "X-linked immunoneurological disorder", "immunoneurologic disorder, X-linked", "neonatal death immune deficiency"], "xref": ["GARD:0000274", "MEDGEN:341162", "MESH:C536743", "OMIM:300076", "Orphanet:2571", "SCTID:719827008", "UMLS:C1848144", "icd11.foundation:1464555617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010244", "name": "Cgf1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CGF1", "cognitive function 1, social", "social cognition"], "xref": ["MEDGEN:338395", "OMIM:300082", "UMLS:C1848140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010245", "name": "X-linked cone-rod dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COD2", "CORDX2", "X-linked cone-rod dystrophy type 2", "cone dystrophy 2, X-linked", "cone dystrophy X-linked 2", "cone dystrophy, progressive X-linked, 2", "cone-rod dystrophy X-linked 2", "cone-rod dystrophy, X-linked, 2"], "xref": ["DOID:0111006", "GARD:0001462", "MEDGEN:341161", "MESH:C564717", "OMIM:300085", "UMLS:C1848139"]}
{"category": ["biolink:Disease"], "description": "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.", "id": "MONDO:0010246", "name": "Developmental and epileptic encephalopathy, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE9", "EFMR", "EIEE9", "Juberg-Hellman syndrome", "PCDH19 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 9", "developmental and epileptic encephalopathy, 9", "early infantile epileptic encephalopathy caused by mutation in PCDH19", "early infantile epileptic encephalopathy type 9", "epileptic encephalopathy, early infantile, 9", "epileptic encephalopathy, early infantile, type 9", "familial epilepsy and intellectual disability limited to females", "familial epilepsy and mental retardation limited to females", "female restricted epilepsy with intellectual disability"], "xref": ["DOID:0060848", "GARD:0010806", "MEDGEN:338393", "MESH:C564715", "NANDO:1200599", "OMIM:300088", "Orphanet:101039", "UMLS:C1848137"]}
{"category": ["biolink:Disease"], "description": "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.", "id": "MONDO:0010247", "name": "X-linked cerebral adrenoleukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["X-linked cerebral adrenoleukodystrophy"], "xref": ["GARD:0009412", "MEDGEN:1708324", "NANDO:1200166", "NANDO:2201246", "Orphanet:139396", "UMLS:C2026514", "icd11.foundation:1105019687"]}
{"category": ["biolink:Disease"], "description": "X-linked form of spondyloepimetaphyseal dysplasia.", "id": "MONDO:0010248", "name": "X-linked spondyloepimetaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondyloepimetaphyseal dysplasia, X-linked", "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive"], "xref": ["DOID:0112150", "GARD:0004979", "MEDGEN:376281", "MESH:C564714", "OMIM:300106", "Orphanet:93349", "UMLS:C1848097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010250", "name": "Intellectual disability, x-linked 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CLCN4-related X-linked intellectual disability syndrome", "MRX49", "Raynaud-Claes syndrome, X-linked dominant", "intellectual disability, X-linked 15", "intellectual disability, X-linked 49", "mental retardation, X-linked 15"], "xref": ["DOID:0112060", "GARD:0017880", "MEDGEN:923000", "OMIM:300114", "Orphanet:485350", "UMLS:C0796221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010251", "name": "Intellectual disability, x-linked 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX50", "intellectual developmental disorder, X-linked 50", "intellectual disability, X-linked 50"], "xref": ["DOID:0112029", "GARD:0022668", "MEDGEN:376278", "MESH:C564713", "OMIM:300115", "UMLS:C1848087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010252", "name": "Intellectual disability, x-linked, with panhypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked, with isolated growth hormone deficiency", "intellectual disability, X-linked, with panhypopituitarism"], "xref": ["GARD:0024714", "MEDGEN:394771", "OMIM:300123", "UMLS:C2678223"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.", "id": "MONDO:0010256", "name": "Intellectual disability, x-linked 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IL1RAPL1 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 21, X-linked recessive", "intellectual disability, X-linked 21", "intellectual disability, X-linked type 21", "mental retardation, X-linked type 21", "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1"], "xref": ["DOID:0112022", "GARD:0022669", "MEDGEN:1790509", "OMIM:300143", "UMLS:C5551510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010257", "name": "Prostate cancer, hereditary, x-linked 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPCX1", "prostate cancer, hereditary, X-linked 1"], "xref": ["GARD:0015253", "MEDGEN:339479", "OMIM:300147", "UMLS:C1846279"]}
{"category": ["biolink:Disease"], "description": "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.", "id": "MONDO:0010258", "name": "Mehmo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEHMO", "MEHMO syndrome", "MEHMO syndrome, X-linked recessive", "MRXS20", "MRXS25", "MRXSBRK", "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome", "intellectual disability, X-linked, syndromic 20", "intellectual disability, X-linked, syndromic 25", "intellectual disability, X-linked, syndromic, Borck type", "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", "mental retardation, X-linked, syndromic, Borck type", "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", "syndromic X-linked intellectual disability 20", "syndromic X-linked intellectual disability 25"], "xref": ["DOID:0060801", "GARD:0009178", "MEDGEN:375855", "MESH:C537451", "OMIM:300148", "OMIM:300987", "Orphanet:85282", "SCTID:722037004", "UMLS:C1846278", "icd11.foundation:500681653"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.", "id": "MONDO:0010259", "name": "Retinitis pigmentosa 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP24", "retinitis pigmentosa 24", "retinitis pigmentosa type 24"], "xref": ["DOID:0110416", "GARD:0010389", "MEDGEN:854690", "OMIM:300155", "UMLS:C3887982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010260", "name": "Arthrogryposis, congenital, lower limb, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ACLLX"], "xref": ["MEDGEN:339477", "MESH:C564574", "OMIM:300158", "UMLS:C1846273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010261", "name": "Microphthalmia, syndromic 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFCD syndrome", "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome", "microphthalmia syndromic 2", "microphthalmia, syndromic 2", "microphthalmia, syndromic 2, X-linked dominant", "microphthalmia, syndromic type 2", "oculofaciocardiodental syndrome"], "xref": ["DOID:0111809", "GARD:0004628", "ICD9:759.89", "MEDGEN:337547", "OMIM:300166", "Orphanet:2712", "SCTID:699300009", "UMLS:C1846265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010262", "name": "Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses"], "xref": ["GARD:0009601", "MEDGEN:373521", "MESH:C537159", "OMIM:300184", "UMLS:C1970936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010263", "name": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMME complex", "AMME syndrome", "ATS-MR"], "xref": ["DOID:0111860", "GARD:0016761", "MEDGEN:337424", "MESH:C564570", "OMIM:300194", "Orphanet:86818", "SCTID:720982007", "UMLS:C1846242"]}
{"category": ["biolink:Disease"], "description": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.", "id": "MONDO:0010264", "name": "X-linked adrenal hypoplasia congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked adrenal hypoplasia congenita", "X-linked congenital adrenal hypoplasia", "adrenal hypoplasia, congenital, X-linked recessive"], "xref": ["DOID:0080156", "GARD:0000555", "MEDGEN:87442", "NANDO:1200403", "NANDO:2200357", "NCIT:C123725", "OMIM:300200", "Orphanet:95702", "SCTID:93235007", "UMLS:C0342482"]}
{"category": ["biolink:Disease"], "description": "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.", "id": "MONDO:0010265", "name": "Simpson-golabi-behmel syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["OFD1 Simpson-Golabi-Behmel syndrome", "SGBS2", "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1", "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive", "lethal variant of Simpson-Golabi-Behmel syndrome"], "xref": ["DOID:0080342", "GARD:0024715", "MEDGEN:337527", "MESH:C564567", "OMIM:300209", "Orphanet:79022", "UMLS:C1846175"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.", "id": "MONDO:0010266", "name": "Intellectual disability, x-linked 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TSPAN7 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 58, X-linked recessive", "intellectual disability, X-linked 58", "intellectual disability, X-linked type 58", "mental retardation, X-linked type 58", "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7"], "xref": ["DOID:0112024", "GARD:0022670", "MEDGEN:337526", "MESH:C564566", "OMIM:300210", "UMLS:C1846174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010267", "name": "Episodic muscle weakness, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["EMWX", "episodic muscle weakness, X-linked"], "xref": ["MEDGEN:337525", "MESH:C564565", "OMIM:300211", "UMLS:C1846173"]}
{"category": ["biolink:Disease"], "description": "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.", "id": "MONDO:0010268", "name": "X-linked lissencephaly with abnormal genitalia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked lissencephaly with abnormal genitalia", "X-linked lissencephaly with ambiguous genitalia", "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome", "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome", "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome", "lissencephaly, X-linked, type 2"], "xref": ["DOID:0112238", "GARD:0012491", "MEDGEN:375832", "MESH:C564563", "OMIM:300215", "Orphanet:452", "SCTID:717632002", "UMLS:C1846171"]}
{"category": ["biolink:Disease"], "description": "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.", "id": "MONDO:0010269", "name": "Coats disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Coats disease", "Leber miliary aneurysm", "congenital retinal telangiectasia", "exudative retinopathy"], "xref": ["DOID:7765", "GARD:0006121", "ICD9:362.12", "MEDGEN:1870587", "MESH:D058456", "MedDRA:10015901", "NORD:981", "OMIM:300216", "Orphanet:190", "SCTID:360455002", "UMLS:C5964756", "icd11.foundation:2032707885"]}
{"category": ["biolink:Disease"], "description": "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.", "id": "MONDO:0010270", "name": "Syndromic x-linked intellectual disability 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXS7", "X-linked intellectual disability, Ahmad type", "intellectual disability, X-linked syndromic 7", "syndromic X-linked intellectual disability type 7"], "xref": ["DOID:0060808", "GARD:0009156", "MEDGEN:337403", "MESH:C537449", "OMIM:300218", "Orphanet:85274", "SCTID:719160009", "UMLS:C1846170"]}
{"category": ["biolink:Disease"], "description": "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.", "id": "MONDO:0010271", "name": "X-linked myotubular myopathy-abnormal genitalia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Xq28 contiguous gene deletion syndrome"], "xref": ["GARD:0017792", "MEDGEN:335354", "MESH:C564561", "OMIM:300219", "Orphanet:456328", "UMLS:C1846169"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010273", "name": "Lymphoma, hodgkin, x-linked pseudoautosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Hodgkin disease susceptibility, pseudoautosomal", "lymphoma, Hodgkin, X-linked pseudoautosomal"], "xref": ["GARD:0009899", "MEDGEN:335352", "MESH:C538326", "OMIM:300221", "UMLS:C1846167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010274", "name": "Testicular germ cell tumor 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TGCT1", "testicular germ cell tumor 1"], "xref": ["GARD:0024716", "MEDGEN:337402", "MESH:C564559", "OMIM:300228", "UMLS:C1846164"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.", "id": "MONDO:0010275", "name": "Spondyloepimetaphyseal dysplasia, bieganski type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["H-SMD", "hypomyelination-spondyloepimetaphyseal dysplasia syndrome", "leukoencephalopathy-SEMD syndrome", "leukoencephalopathy-metaphyseal chondrodysplasia syndrome", "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive"], "xref": ["GARD:0004891", "MEDGEN:335350", "MESH:C536671", "MESH:C567065", "OMIM:300232", "Orphanet:168448", "Orphanet:83629", "UMLS:C1846148", "icd11.foundation:1073330593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010276", "name": "Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:335349", "MESH:C564557", "OMIM:300233", "UMLS:C1846147"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.", "id": "MONDO:0010277", "name": "Syndromic x-linked intellectual disability shashi type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXS11", "SMRXS", "Shashi X-linked intellectual disability syndrome", "Shashi X-linked mental retardation syndrome", "X-linked intellectual disability Shashi type", "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive", "intellectual disability, X-linked, syndromic 11, Shashi type", "syndromic X-linked intellectual disability type 11"], "xref": ["DOID:0060826", "GARD:0004119", "MEDGEN:335348", "MESH:C537135", "OMIM:300238", "Orphanet:85286", "SCTID:718900002", "UMLS:C1846145"]}
{"category": ["biolink:Disease"], "description": "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.", "id": "MONDO:0010278", "name": "Christianson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Christianson syndrome", "MRXSCH", "X-linked Angelman-like syndrome", "intellectual developmental disorder, X-linked syndromic, Christianson type", "intellectual disability, X-linked syndromic, Christianson type", "intellectual disability, microcephaly, epilepsy, and ataxia syndrome", "mental retardation, microcephaly, epilepsy, and ataxia syndrome"], "xref": ["DOID:0060825", "GARD:0010572", "ICD9:759.89", "MEDGEN:394455", "MESH:C567484", "OMIM:300243", "Orphanet:85278", "SCTID:702354007", "UMLS:C2678194"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.", "id": "MONDO:0010279", "name": "Terminal osseous dysplasia-pigmentary defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["terminal osseous dysplasia, X-linked dominant"], "xref": ["DOID:0112149", "GARD:0016769", "MEDGEN:335344", "MESH:C564554", "OMIM:300244", "Orphanet:88630", "UMLS:C1846129"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010280", "name": "Ptosis, hereditary congenital 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ptosis, hereditary congenital 2", "ptosis, hereditary congenital 2, X-linked dominant", "ptosis, hereditary congenital type 2"], "xref": ["DOID:0061148", "GARD:0018163", "MEDGEN:337515", "MESH:C564553", "OMIM:300245", "UMLS:C1846128"]}
{"category": ["biolink:Disease"], "description": "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.", "id": "MONDO:0010281", "name": "Danon disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANTOPOL disease", "Danon disease", "Danon disease, X-linked dominant", "GSD due to LAMP-2 deficiency", "LAMP2 lysosomal glycogen storage disease", "glycogen storage disease type IIb", "glycogenosis due to LAMP-2 deficiency", "lysosomal glycogen storage disease caused by mutation in LAMP2", "lysosomal glycogen storage disease with normal acid maltase activity"], "xref": ["DOID:0050437", "EFO:1001333", "GARD:0009730", "ICD9:759.89", "MEDGEN:209235", "MESH:D052120", "NANDO:1200145", "NANDO:1200222", "NCIT:C84735", "NORD:1033", "OMIM:300257", "Orphanet:34587", "SCTID:419097006", "UMLS:C0878677", "icd11.foundation:1233188442"]}
{"category": ["biolink:Disease"], "description": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.", "id": "MONDO:0010283", "name": "Syndromic x-linked intellectual disability lubs type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lubs X-linked intellectual disability syndrome", "Lubs X-linked mental retardation syndrome", "MECP2 duplication syndrome", "MRXSL", "Xq28 (MECP2) duplication", "distal duplication Xq", "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive", "intellectual disability, X-linked, syndromic, Lubs type", "intellectual disability, X-linked, with recurrent respiratory infections", "mental retardation, X-linked, with recurrent respiratory infections", "syndromic X-linked intellectual disability Lubs type", "telomeric duplication Xq"], "xref": ["DECIPHER:45", "DOID:0060799", "GARD:0009781", "ICD9:758.89", "MEDGEN:337496", "MESH:C537723", "NANDO:2200984", "NCIT:C126747", "OMIM:300260", "Orphanet:1762", "SCTID:702816000", "UMLS:C1846058"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.", "id": "MONDO:0010284", "name": "Armfield syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Armfield X-linked intellectual disability syndrome", "Armfield X-linked mental retardation syndrome", "Armfield syndrome", "MRXSA", "X-linked intellectual disability, Armfield type", "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive", "intellectual disability syndrome, X-linked, Armfield type", "mental retardation syndrome, X-linked, armfield type, X-linked recessive", "syndromic X-linked intellectual disability Armfield type"], "xref": ["DOID:0050764", "GARD:0016742", "MEDGEN:375800", "MESH:C564551", "OMIM:300261", "Orphanet:85276", "SCTID:719017003", "UMLS:C1846057"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.", "id": "MONDO:0010285", "name": "Syndromic x-linked intellectual disability abidi type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRXSAB", "intellectual disability, X-linked syndromic, Abidi type"], "xref": ["DOID:0060818", "GARD:0009157", "MEDGEN:337376", "MESH:C535556", "OMIM:300262", "Orphanet:85273", "UMLS:C1846056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010286", "name": "Syndromic x-linked intellectual disability siderius type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXSSD", "Siderius X-linked intellectual disability syndrome", "Siderius X-linked mental retardation syndrome", "Siderius-Hamel syndrome", "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive", "intellectual disability syndrome, X-linked, Siderius type", "syndromic X-linked intellectual disability Siderius type"], "xref": ["DOID:0060812", "GARD:0009704", "MEDGEN:337375", "MESH:C537333", "OMIM:300263", "Orphanet:85287", "UMLS:C1846055"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.", "id": "MONDO:0010287", "name": "Hereditary spastic paraplegia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG16", "X-linked spastic paraplegia type 16", "hereditary spastic paraplegia type 16", "spastic paraplegia 16, X-linked, complicated, X-linked recessive"], "xref": ["DOID:0110769", "GARD:0009585", "MEDGEN:375796", "MESH:C536643", "OMIM:300266", "Orphanet:100997", "UMLS:C1846046"]}
{"category": ["biolink:Disease"], "description": "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0010288", "name": "Adrenomyodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adrenomyodystrophy"], "xref": ["GARD:0000562", "MEDGEN:337494", "MESH:C538051", "OMIM:300270", "Orphanet:977", "SCTID:763311001", "UMLS:C1846044", "icd11.foundation:46666832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010289", "name": "Intellectual disability, x-linked 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked 72, X-linked recessive", "intellectual disability, X-linked 72", "intellectual disability, X-linked type 72", "mental retardation, X-linked type 72"], "xref": ["DOID:0112059", "GARD:0022671", "MEDGEN:375793", "MESH:C564547", "OMIM:300271", "UMLS:C1846038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010290", "name": "Goiter, multinodular 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MNG2", "goiter, multinodular 2", "goiter, multinodular, 2, X-linked dominant"], "xref": ["MEDGEN:337370", "MESH:C564546", "OMIM:300273", "UMLS:C1846033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010292", "name": "Uruguay faciocardiomusculoskeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Uruguay Faciocardiomusculoskeletal syndrome", "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive"], "xref": ["DOID:0112148", "GARD:0024717", "MEDGEN:335320", "MESH:C564544", "OMIM:300280", "UMLS:C1846010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010293", "name": "Ectodermal dysplasia and immune deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDA-ID", "HED-ID", "anhidrotic ectodermal dysplasia with immune deficiency", "anhidrotic ectodermal dysplasia with immunodeficiency", "hypohidrotic ectodermal dysplasia with immune deficiency", "hypohidrotic ectodermal dysplasia with immunodeficiency"], "xref": ["DOID:0081077", "GARD:0009936", "MEDGEN:375786", "MESH:C536181", "NANDO:1200360", "NANDO:2200761", "NCIT:C118844", "OMIMPS:300291", "Orphanet:98813", "SCTID:703525006", "UMLS:C1846006"]}
{"category": ["biolink:Disease"], "description": "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.", "id": "MONDO:0010294", "name": "X-linked severe congenital neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked severe congenital neutropenia", "neutropenia, severe congenital, X-linked, X-linked recessive", "severe congenital neutropenia, X-linked"], "xref": ["DOID:0112128", "GARD:0003981", "MEDGEN:335314", "MESH:C564539", "NANDO:2200753", "OMIM:300299", "Orphanet:86788", "SCTID:718882006", "UMLS:C1845987"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.", "id": "MONDO:0010295", "name": "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OL-EDA-ID", "ol-EDA-ID"], "xref": ["GARD:0016681", "MEDGEN:929406", "MESH:C564538", "OMIM:300301", "Orphanet:69088", "SCTID:720986005", "UMLS:C4303737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010296", "name": "Immunodeficiency 61", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AGMX2", "immunodeficiency 61, X-linked recessive"], "xref": ["DOID:0111999", "GARD:0010007", "MEDGEN:337462", "MESH:C538057", "OMIM:300310", "Orphanet:696945", "UMLS:C1845903"]}
{"category": ["biolink:Disease"], "description": "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.", "id": "MONDO:0010297", "name": "Fg syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FG syndrome 2", "FG syndrome caused by mutation in FLNA", "FG syndrome type 2", "FLNA FG syndrome"], "xref": ["MEDGEN:337461", "OMIM:300321", "UMLS:C1845902"]}
{"category": ["biolink:Disease"], "description": "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.", "id": "MONDO:0010298", "name": "Lesch-nyhan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPRT complete deficiency", "HPRT deficiency grade IV", "Lesch Nyhan Syndrome", "Lesch-Nyhan syndrome", "Lesch-Nyhan syndrome, X-linked recessive", "X-linked hyperuricemia", "X-linked hyperuricemia (disorder) [ambiguous]", "complete hypoxanthine-guanine phosphoribosyltransferase deficiency", "deficiency of IMP pyrophosphorylase", "hypoxanthine guanine phosphoribosyltransferase complete deficiency", "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV"], "xref": ["DOID:1919", "GARD:0007226", "ICD10CM:E79.1", "ICD9:277.2", "MEDGEN:9721", "MESH:D007926", "MedDRA:10057589", "NANDO:2200586", "NCIT:C61255", "NORD:1365", "OMIM:300322", "Orphanet:510", "SCTID:10406007", "UMLS:C0023374", "icd11.foundation:1886495906"]}
{"category": ["biolink:Disease"], "description": "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.", "id": "MONDO:0010299", "name": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPRT deficiency, grade I", "HPRT partial deficiency", "HPRT-related gout", "HPRT-related hyperuricemia", "HPRT1 partial deficiency", "Kelley-Seegmiller syndrome", "hyperuricemia, HRPT-related, X-linked recessive", "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency", "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I"], "xref": ["DOID:0112127", "GARD:0016710", "ICD9:277.2", "MEDGEN:82770", "MESH:C562583", "OMIM:300323", "Orphanet:79233", "SCTID:238007004", "UMLS:C0268117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010300", "name": "Intellectual disability, x-linked 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX53", "intellectual disability, X-linked 53", "mental retardation, X-linked 53, X-linked recessive"], "xref": ["DOID:0112047", "GARD:0022672", "MEDGEN:335296", "MESH:C564533", "OMIM:300324", "UMLS:C1845889"]}
{"category": ["biolink:Disease"], "description": "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.", "id": "MONDO:0010302", "name": "Ito hypomelanosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hypomelanosis of Ito", "Incontinentia pigmenti type 1", "Ito hypomelanosis", "hi syndrome", "hypomelanosis of Ito", "pigmentary mosaicism, Ito type"], "xref": ["DOID:3156", "GARD:0002992", "MEDGEN:5920", "NORD:1274", "OMIM:300337", "Orphanet:435", "UMLS:C0022283"]}
{"category": ["biolink:Disease"], "description": "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.", "id": "MONDO:0010305", "name": "Creatine transporter deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC6A8 deficiency", "cerebral creatine deficiency syndrome 1", "cerebral creatine deficiency syndrome 1, X-linked recessive", "cerebral creatine deficiency syndrome type 1", "creatine transporter deficiency"], "xref": ["DOID:0050800", "GARD:0001608", "ICD9:758.81", "MEDGEN:337451", "MESH:C535598", "NANDO:1201035", "NANDO:2201301", "NCIT:C125665", "NORD:1966", "OMIM:300352", "Orphanet:52503", "SCTID:698290008", "UMLS:C1845862"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.", "id": "MONDO:0010306", "name": "X-linked intellectual disability, cabezas type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cabezas syndrome", "MRSS", "MRXS15", "MRXSC", "X-linked intellectual disability with short stature", "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait", "X-linked intellectual disability, Cabezas type", "intellectual disability, X-linked, syndromic 15 (Cabezas type)", "intellectual disability, X-linked, with short stature", "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive", "mental retardation, X-linked, with short stature", "syndromic X-linked intellectual disability 15", "syndromic X-linked intellectual disability Cabezas type"], "xref": ["DOID:0060822", "GARD:0013244", "MEDGEN:337334", "OMIM:300354", "Orphanet:85293", "SCTID:719811001", "UMLS:C1845861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010307", "name": "Intellectual disability, x-linked 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX73", "intellectual disability, X-linked 73", "mental retardation, X-linked 73, X-linked recessive"], "xref": ["DOID:0112017", "GARD:0022673", "MEDGEN:335293", "MESH:C564528", "OMIM:300355", "UMLS:C1845860"]}
{"category": ["biolink:Disease"], "description": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.", "id": "MONDO:0010308", "name": "Thrombocytopenia, x-linked, with or without dyserythropoietic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked thrombocytopenia, with or without dyserythropoietic Anaemia", "X-linked thrombocytopenia, with or without dyserythropoietic Anemia", "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive"], "xref": ["GARD:0024718", "MEDGEN:763703", "NCIT:C136653", "OMIM:300367", "UMLS:C3550789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010309", "name": "Intellectual disability, x-linked 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX42", "intellectual disability, X-linked 42"], "xref": ["DOID:0112057", "GARD:0022674", "MEDGEN:337321", "MESH:C564524", "OMIM:300372", "UMLS:C1845810"]}
{"category": ["biolink:Disease"], "description": "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.", "id": "MONDO:0010310", "name": "Osteopathia striata with cranial sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Osteopathia striata with cranial sclerosis, X-linked dominant", "Robinow-Unger syndrome", "hyperostosis generalisata with striations", "osteopathia striata with cranial sclerosis"], "xref": ["DOID:0060886", "GARD:0004148", "ICD9:733.99", "MEDGEN:96590", "MESH:C536053", "OMIM:300373", "Orphanet:2780", "SCTID:254129003", "UMLS:C0432268"]}
{"category": ["biolink:Disease"], "description": "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.", "id": "MONDO:0010311", "name": "Becker muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMD", "Becker dystrophinopathy", "Becker muscular dystrophy", "Becker muscular dystrophy, X-linked recessive"], "xref": ["DOID:9883", "GARD:0005900", "MEDGEN:182959", "MESH:C570377", "MedDRA:10059117", "NANDO:1200489", "NANDO:2200865", "NCIT:C84587", "OMIM:300376", "Orphanet:98895", "SCTID:387732009", "UMLS:C0917713", "icd11.foundation:690532643"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010312", "name": "Radial ray deficiency, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["radial ray deficiency", "radial ray deficiency, X-linked"], "xref": ["MEDGEN:337012", "MESH:C564523", "OMIM:300378", "UMLS:C1845717"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.", "id": "MONDO:0010313", "name": "Intellectual disability, x-linked 63", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACSL4 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 63, X-linked dominant", "intellectual disability, X-linked 63", "intellectual disability, X-linked type 63", "mental retardation, X-linked type 63", "non-syndromic X-linked intellectual disability caused by mutation in ACSL4"], "xref": ["DOID:0112050", "GARD:0005613", "MEDGEN:337002", "MESH:C564522", "OMIM:300387", "UMLS:C1845672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010314", "name": "Polymicrogyria, bilateral perisylvian, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BPPX", "polymicrogyria, bilateral perisylvian, X-linked", "polymicrogyria, bilateral perisylvian, X-linked dominant"], "xref": ["GARD:0015256", "OMIM:300388", "SCTID:438583008"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.", "id": "MONDO:0010315", "name": "T-b+ severe combined immunodeficiency due to gamma chain deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCIDX1", "T-B+ SCID due to gamma chain deficiency", "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "T-B+ severe combined immunodeficiency, X-linked", "X-linked severe combined immunodeficiency", "XSCID", "severe combined immunodeficiency, X-linked, X-linked recessive"], "xref": ["DOID:0060013", "EFO:0005555", "GARD:0005618", "MEDGEN:220906", "NANDO:1200321", "NANDO:2200694", "NCIT:C4682", "OMIM:300400", "Orphanet:276", "SCTID:203592006", "UMLS:C1279481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010316", "name": "Fg syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FG syndrome 3"], "xref": ["MEDGEN:375687", "OMIM:300406", "UMLS:C1845567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010317", "name": "Intellectual disability, x-linked, with or without seizures, arx-related", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARX-related intellectual disability", "intellectual developmental disorder, X-linked 29, X-linked recessive", "intellectual disability, X-linked, with or without seizures, ARX-related"], "xref": ["DOID:0112021", "GARD:0005614", "MEDGEN:208681", "MESH:C563150", "MESH:C564502", "OMIM:300419", "UMLS:C0796244"]}
{"category": ["biolink:Disease"], "description": "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.", "id": "MONDO:0010318", "name": "Fg syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CASK FG syndrome", "CASK-related FG syndrome", "FG syndrome 4", "FG syndrome caused by mutation in cask", "FG syndrome type 4", "FGS4", "cask FG syndrome"], "xref": ["MEDGEN:336965", "OMIM:300422", "UMLS:C1845546"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.", "id": "MONDO:0010319", "name": "Syndromic x-linked intellectual disability hedera type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXE", "MRXSH", "X-linked intellectual disability with epilepsy", "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive", "intellectual disability, X-linked, syndromic, Hedera type", "mental retardation, X-linked, syndromic, Hedera type"], "xref": ["DOID:0060806", "GARD:0016834", "MEDGEN:337257", "MESH:C564516", "OMIM:300423", "Orphanet:93952", "UMLS:C1845543"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.", "id": "MONDO:0010320", "name": "Retinitis pigmentosa 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OFD1 retinitis pigmentosa", "RP23", "retinitis pigmentosa 23", "retinitis pigmentosa 23, X-linked recessive", "retinitis pigmentosa caused by mutation in OFD1", "retinitis pigmentosa type 23"], "xref": ["DOID:0110412", "GARD:0010391", "MEDGEN:238456", "OMIM:300424", "UMLS:C1419610"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010322", "name": "Intellectual disability, x-linked 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX2", "intellectual disability, X-linked 2"], "xref": ["DOID:0112016", "GARD:0022675", "MEDGEN:162922", "MESH:C563135", "OMIM:300428", "UMLS:C0796207"]}
{"category": ["biolink:Disease"], "description": "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.", "id": "MONDO:0010323", "name": "Atkin-flaitz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Atkin-Flaitz syndrome", "X-linked intellectual disability, Atkin type"], "xref": ["GARD:0003537", "MEDGEN:163230", "MESH:C538195", "OMIM:300431", "Orphanet:1193", "SCTID:718577005", "UMLS:C0796206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010324", "name": "Intellectual disability, x-linked 81", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX81", "intellectual disability, X-linked 81", "mental retardation, X-linked 81, X-linked recessive"], "xref": ["DOID:0112033", "GARD:0022676", "MEDGEN:335203", "MESH:C564515", "OMIM:300433", "UMLS:C1845531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010325", "name": "X-linked intellectual disability, stocco dos santos type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type"], "xref": ["DOID:0112126", "GARD:0001133", "MEDGEN:335202", "MESH:C537495", "OMIM:300434", "Orphanet:85288", "SCTID:718910006", "UMLS:C1845530"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010326", "name": "Intellectual disability, x-linked 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, X-linked 46", "intellectual disability, X-linked type 46", "mental retardation, X-linked 46, X-linked recessive", "mental retardation, X-linked type 46"], "xref": ["DOID:0112055", "GARD:0022677", "MEDGEN:337255", "MESH:C564513", "OMIM:300436", "UMLS:C1845526"]}
{"category": ["biolink:Disease"], "description": "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.", "id": "MONDO:0010327", "name": "Hsd10 mitochondrial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17-beta-hydroxysteroid dehydrogenase 10 deficiency", "17-beta-hydroxysteroid dehydrogenase X deficiency", "2-methyl-3-hydroxybutyric aciduria", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency", "3-hydroxyacyl-CoA dehydrogenase 2 deficiency", "HSD10 deficiency", "HSD10 mitochondrial disease", "HSD10 mitochondrial disease, X-linked dominant", "HSD10MD", "HSD17B10 deficiency", "MHBD deficiency", "MRXS10", "chorioathetosis with mental retardation and abnormal behavior", "chorioathetosis with mental retardation and abnormal behaviour", "mental retardation with chorioathetosis and abnormal behavior", "mental retardation with chorioathetosis and abnormal behaviour", "mental retardation, X-linked, syndromic 10", "mental retardation, X-linked, syndromic type 10"], "xref": ["DOID:0060810", "GARD:0010716", "MEDGEN:781653", "MESH:C536080", "MESH:C564560", "OMIM:300220", "OMIM:300438", "Orphanet:391417", "SCTID:791000124107", "UMLS:C3266731"]}
{"category": ["biolink:Disease"], "description": "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).", "id": "MONDO:0010328", "name": "Alpha-thalassemia-myelodysplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATMDS", "acquired HbH disease", "acquired haemoglobin H disease", "acquired hemoglobin H disease", "alpha-thalassemia myelodysplasia syndrome, somatic"], "xref": ["DOID:0112125", "GARD:0017167", "ICD9:282.49", "MEDGEN:108433", "MESH:C563023", "OMIM:300448", "Orphanet:231401", "SCTID:307343001", "UMLS:C0585216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010329", "name": "Intellectual disability, x-linked 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX77", "intellectual disability, X-linked 77", "mental retardation, X-linked 77, X-linked recessive"], "xref": ["DOID:0112039", "GARD:0022678", "MEDGEN:335199", "MESH:C564511", "OMIM:300454", "UMLS:C1845499"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.", "id": "MONDO:0010332", "name": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cubitus valgus with mental retardation and unusual facies, X-linked recessive"], "xref": ["GARD:0016745", "MEDGEN:1801270", "MESH:C564510", "OMIM:300471", "Orphanet:85280", "UMLS:C5677056"]}
{"category": ["biolink:Disease"], "description": "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.", "id": "MONDO:0010333", "name": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Graham-Cox syndrome", "MRXS28", "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive", "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia", "intellectual disability, X-linked, syndromic 28", "mental retardation, X-linked, syndromic 28"], "xref": ["DOID:0060816", "GARD:0012486", "MEDGEN:335185", "MESH:C564509", "OMIM:300472", "Orphanet:52055", "SCTID:722282008", "UMLS:C1845446"]}
{"category": ["biolink:Disease"], "description": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).", "id": "MONDO:0010334", "name": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness, dystonia, and cerebral hypomyelination, X-linked recessive"], "xref": ["DOID:0112123", "GARD:0017592", "MEDGEN:812964", "MESH:C564508", "OMIM:300475", "Orphanet:369939", "UMLS:C3806634"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010335", "name": "X-linked cone-rod dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORDX3", "X-linked cone-rod dystrophy type 3", "cone-rod dystrophy, X-linked, 3, X-linked recessive", "cone-rod dystrophy, X-linked, type 3"], "xref": ["DOID:0111007", "GARD:0010654", "MEDGEN:336932", "MESH:C564507", "OMIM:300476", "UMLS:C1845407"]}
{"category": ["biolink:Disease"], "description": "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.", "id": "MONDO:0010336", "name": "Orofaciodigital syndrome viii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFD8", "oral-facial-digital syndrome type 8", "oral-facial-digital syndrome, Edwards type", "orofaciodigital syndrome VIII", "orofaciodigital syndrome VIII, X-linked recessive", "orofaciodigital syndrome type VIII", "orofaciodigital syndrome, Edwards type"], "xref": ["DOID:0060378", "GARD:0004060", "MEDGEN:208667", "MESH:C557820", "OMIM:300484", "Orphanet:2755", "SCTID:722106001", "UMLS:C0796101"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.", "id": "MONDO:0010337", "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPHN1 syndrome", "Oligophrenin-1 syndrome", "X-linked intellectual disability-cerebellar hypoplasia syndrome", "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive"], "xref": ["DOID:0080311", "GARD:0009947", "MEDGEN:336920", "MESH:C537456", "OMIM:300486", "Orphanet:137831", "SCTID:719136005", "UMLS:C1845366"]}
{"category": ["biolink:Disease"], "description": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.", "id": "MONDO:0010338", "name": "X-linked distal spinal muscular atrophy type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP7A spinal muscular atrophy", "ATP7A-related distal motor neuropathy", "DSMAX", "SMAX3", "X-linked dHMN type 3", "X-linked dHMN3", "X-linked dSMA type 3", "X-linked dSMA3", "X-linked distal hereditary motor neuropathy type 3", "spinal muscular atrophy caused by mutation in ATP7A", "spinal muscular atrophy, distal, X-linked 3, X-linked recessive", "spinal muscular atrophy, distal, X-linked type 3"], "xref": ["DOID:0111196", "GARD:0016957", "MEDGEN:335168", "MESH:C564506", "OMIM:300489", "Orphanet:139557", "SCTID:766764008", "UMLS:C1845359"]}
{"category": ["biolink:Disease"], "description": "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).", "id": "MONDO:0010339", "name": "Epilepsy, x-linked 1, with variable learning disabilities and behavior disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked epilepsy-learning disabilities-behavior disorders syndrome", "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant", "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant"], "xref": ["DOID:0112122", "GARD:0016748", "MEDGEN:1823951", "MESH:C564505", "OMIM:300491", "Orphanet:85294", "UMLS:C5774177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010344", "name": "Intellectual disability, x-linked 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, X-linked 45", "intellectual disability, X-linked type 45", "mental retardation, X-linked 45", "mental retardation, X-linked type 45"], "xref": ["DOID:0112028", "GARD:0022679", "MEDGEN:375633", "MESH:C564503", "OMIM:300498", "UMLS:C1845333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010347", "name": "Intellectual disability, x-linked 84", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX84", "intellectual disability, X-linked 84", "mental retardation, X-linked 84, X-linked recessive"], "xref": ["DOID:0112030", "GARD:0022680", "MEDGEN:337203", "MESH:C564501", "OMIM:300505", "UMLS:C1845297"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.", "id": "MONDO:0010349", "name": "Ovarian dysgenesis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BMP15 primary ovarian failure", "ovarian dysgenesis 2", "ovarian dysgenesis type 2", "primary ovarian failure caused by mutation in BMP15"], "xref": ["DOID:0080494", "DOID:0080861", "GARD:0018040", "MEDGEN:336903", "MESH:C564499", "OMIM:300510", "UMLS:C1845294"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.", "id": "MONDO:0010350", "name": "Premature ovarian failure 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DIAPH2 primary ovarian failure", "premature ovarian failure 2A", "premature ovarian failure 2A, X-linked dominant", "premature ovarian failure type 2A", "primary ovarian failure caused by mutation in DIAPH2"], "xref": ["DOID:0080858", "GARD:0024719", "MEDGEN:336902", "MESH:C564498", "OMIM:300511", "UMLS:C1845293"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", "id": "MONDO:0010351", "name": "Fanconi anemia complementation group b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FA2", "FACB", "FANCB", "Fanconi Anemia, complementation group type B", "Fanconi anaemia complementation group type B", "Fanconi anemia complementation group B", "Fanconi anemia complementation group type B", "Fanconi anemia, complementation group B, X-linked recessive"], "xref": ["DOID:0111098", "GARD:0015257", "MEDGEN:336901", "MESH:C564497", "NCIT:C125703", "OMIM:300514", "UMLS:C1845292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010352", "name": "Intellectual disability, x-linked 82", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX82", "intellectual disability, X-linked 82", "mental retardation, X-linked 82, X-linked recessive"], "xref": ["DOID:0112052", "GARD:0022681", "MEDGEN:337201", "MESH:C564496", "OMIM:300518", "UMLS:C1845286"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.", "id": "MONDO:0010353", "name": "Deafness-intellectual disability, martin-probst type syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Martin-Probst syndrome", "X-linked deafness-intellectual disability syndrome syndrome", "intellectual disability, X-linked, syndromic, Martin-Probst type", "martin-probst syndrome, X-linked recessive", "mental retardation, X-linked, syndromic, Martin-Probst type"], "xref": ["DOID:0060830", "GARD:0016750", "MEDGEN:375620", "MESH:C564495", "OMIM:300519", "Orphanet:85321", "SCTID:721087008", "UMLS:C1845285"]}
{"category": ["biolink:Disease"], "description": "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.", "id": "MONDO:0010354", "name": "Allan-herndon-dudley syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHDS", "ALLAN-Herndon syndrome", "Allan-Herndon-Dudley syndrome", "MCT8 deficiency", "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency", "MCT8-specific thyroid hormone cell Membrane transporter deficiency", "X-linked intellectual disability-hypotonia syndrome", "monocarboxylate transporter 8 deficiency"], "xref": ["DOID:0050631", "GARD:0005617", "MEDGEN:208645", "MESH:C537047", "NANDO:1200580", "NANDO:2201292", "NCIT:C118843", "NORD:1415", "OMIM:300523", "Orphanet:59", "SCTID:702327009", "UMLS:C0795889", "icd11.foundation:56813604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010355", "name": "Syndromic x-linked intellectual disability claes-jensen type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXSCJ", "MRXSJ", "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive", "intellectual disability, X-linked, syndromic, Claes-Jensen type", "mental retardation, X-linked, syndromic, Claes-Jensen type", "syndromic X-linked intellectual disability Claes-Jensen type", "syndromic X-linked intellectual disability JARID1C-related"], "xref": ["DOID:0060809", "GARD:0016744", "MEDGEN:335139", "MESH:C564494", "OMIM:300534", "Orphanet:85279", "SCTID:719161008", "UMLS:C1845243"]}
{"category": ["biolink:Disease"], "description": "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.", "id": "MONDO:0010356", "name": "Nephrogenic syndrome of inappropriate antidiuresis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NSIAD", "nephrogenic syndrome of inappropriate antidiuresis", "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive"], "xref": ["DOID:0112121", "GARD:0010306", "MEDGEN:336877", "MESH:C564491", "OMIM:300539", "Orphanet:93606", "SCTID:723440000", "UMLS:C1845202", "icd11.foundation:808905140"]}
{"category": ["biolink:Disease"], "description": "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.", "id": "MONDO:0010358", "name": "Hypophosphatemic rickets, x-linked recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLCN5 X-linked hypophosphatemic rickets", "X-linked hypophosphatemic rickets caused by mutation in CLCN5", "hypophosphatemic rickets, X-linked recessive"], "xref": ["DOID:0080353", "GARD:0015011", "MEDGEN:335115", "OMIM:300554", "UMLS:C1845168"]}
{"category": ["biolink:Disease"], "description": "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.", "id": "MONDO:0010359", "name": "Dent disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Dent disease caused by mutation in OCRL", "Dent disease type 2", "OCRL Dent disease", "dent disease 2, X-linked recessive", "nephrolithiasis type 2"], "xref": ["DOID:0081454", "GARD:0010645", "MEDGEN:336867", "MESH:C564487", "OMIM:300555", "Orphanet:93623", "SCTID:717790004", "UMLS:C1845167", "icd11.foundation:2053330521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010360", "name": "Parkinson disease 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PARK12", "Parkinson disease 12"], "xref": ["GARD:0018604", "MEDGEN:337173", "MESH:C564486", "OMIM:300557", "UMLS:C1845165"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.", "id": "MONDO:0010361", "name": "Intellectual disability, x-linked 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PAK3 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 30, X-linked recessive", "intellectual disability, X-linked 30", "intellectual disability, X-linked type 30", "mental retardation, X-linked type 30", "non-syndromic X-linked intellectual disability caused by mutation in PAK3"], "xref": ["DOID:0112051", "GARD:0022682", "MEDGEN:163235", "OMIM:300558", "UMLS:C0796237"]}
{"category": ["biolink:Disease"], "description": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.", "id": "MONDO:0010362", "name": "Glycogen storage disease ixd", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD IXd", "GSD due to muscle phosphorylase kinase deficiency", "GSD type 9D", "GSD type IXd", "GSD9D", "PHKA1 glycogen storage disease", "PHKA1-related glycogen storage disease type IX", "glycogen storage disease caused by mutation in PHKA1", "glycogen storage disease due to muscle phosphorylase kinase deficiency", "glycogen storage disease type 9D", "glycogen storage disease type IXd", "glycogenosis due to muscle phosphorylase kinase deficiency", "glycogenosis type 9D", "glycogenosis type IXd", "muscle glycogenosis, X-linked recessive", "muscle phosphorylase kinase deficiency"], "xref": ["DOID:0111040", "GARD:0003858", "MEDGEN:335112", "MESH:C564485", "NANDO:1200830", "NANDO:2201167", "OMIM:300559", "Orphanet:715", "UMLS:C1845151"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010363", "name": "Intellectual disability, x-linked 91", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, X-linked 91", "intellectual disability, X-linked type 91", "mental retardation, X-linked 91, X-linked dominant", "mental retardation, X-linked type 91"], "xref": ["DOID:0112043", "GARD:0024720", "MEDGEN:375592", "MESH:C564482", "OMIM:300577", "UMLS:C1845142"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.", "id": "MONDO:0010364", "name": "X-linked intellectual disability-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aldred syndrome", "chromosome xp11.3 deletion syndrome, X-linked recessive", "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion", "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)", "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3"], "xref": ["GARD:0008360", "MEDGEN:336862", "OMIM:300578", "Orphanet:85332", "SCTID:719808002", "UMLS:C1845136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010365", "name": "Myopathy, congenital, with fiber-type disproportion, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFTDX", "myopathy, congenital, with fiber-type disproportion, X-linked", "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant"], "xref": ["DOID:0111226", "GARD:0015258", "MEDGEN:440714", "MESH:C567594", "OMIM:300580", "UMLS:C2749128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010366", "name": "Fg syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FG syndrome 5"], "xref": ["MEDGEN:336854", "MESH:C564480", "OMIM:300581", "UMLS:C1845119"]}
{"category": ["biolink:Disease"], "description": "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.", "id": "MONDO:0010367", "name": "Shox-related short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["short stature, idiopathic familial"], "xref": ["DOID:0112120", "GARD:0017434", "MEDGEN:375584", "MESH:C564479", "OMIM:300582", "Orphanet:314795", "SCTID:763868006", "UMLS:C1845118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010369", "name": "Nystagmus 5, congenital, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NYS5", "nystagmus 5, congenital, X-linked, X-linked dominant"], "xref": ["DOID:0111796", "MEDGEN:375583", "OMIM:300589", "UMLS:C1845116"]}
{"category": ["biolink:Disease"], "description": "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.", "id": "MONDO:0010370", "name": "Cornelia de lange syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cornelia De Lange syndrome type 2", "Cornelia de Lange syndrome 2", "Cornelia de Lange syndrome 2, X-linked dominant", "Cornelia de Lange syndrome caused by mutation in SMC1A", "SMC1A Cornelia de Lange syndrome", "X-linked Cornelia De Lange syndrome"], "xref": ["DOID:0080506", "GARD:0015259", "MEDGEN:315658", "NCIT:C75485", "OMIM:300590", "UMLS:C1802395"]}
{"category": ["biolink:Disease"], "description": "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.", "id": "MONDO:0010371", "name": "Aland island eye disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIED", "Aland island eye disease", "FORSIUS-Eriksson type ocular albinism", "Forsius-Eriksson syndrome", "Forsius-Eriksson type ocular albinism"], "xref": ["DOID:0050630", "GARD:0010574", "MEDGEN:120643", "MESH:C562664", "OMIM:300600", "Orphanet:178333", "SCTID:266455006", "UMLS:C0268505"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.", "id": "MONDO:0010373", "name": "Premature ovarian failure 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF1B primary ovarian failure", "premature ovarian failure 2B", "premature ovarian failure 2B, X-linked recessive", "premature ovarian failure type 2B", "primary ovarian failure caused by mutation in POF1B"], "xref": ["DOID:0080859", "GARD:0024721", "MEDGEN:337159", "MESH:C564476", "OMIM:300604", "UMLS:C1845105"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.", "id": "MONDO:0010374", "name": "Retinitis pigmentosa 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP34", "retinitis pigmentosa 34", "retinitis pigmentosa type 34"], "xref": ["DOID:0110417", "GARD:0010390", "MEDGEN:375582", "MESH:C564475", "OMIM:300605", "UMLS:C1845104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010375", "name": "Developmental and epileptic encephalopathy, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE8", "EIEE8", "developmental and epileptic encephalopathy 8", "epileptic encephalopathy, early infantile, 8", "epileptic encephalopathy, early infantile, type 8", "hyperekplexia-epilepsy syndrome"], "xref": ["DOID:0080215", "GARD:0017010", "MEDGEN:375581", "MESH:C564474", "OMIM:300607", "Orphanet:163985", "UMLS:C1845102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010377", "name": "Myopia 13, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP13", "myopia 13", "myopia 13, X-linked"], "xref": ["MEDGEN:335097", "MESH:C564473", "OMIM:300613", "UMLS:C1845096"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.", "id": "MONDO:0010378", "name": "X-linked hereditary sensory and autonomic neuropathy with hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked auditory neuropathy with peripheral sensory neuropathy type 1", "X-linked hereditary sensory and autonomic neuropathy with hearing loss"], "xref": ["DOID:0111741", "GARD:0012731", "MEDGEN:930069", "MESH:C564472", "OMIM:300614", "Orphanet:139583", "SCTID:719838008", "UMLS:C4304400"]}
{"category": ["biolink:Disease"], "description": "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.", "id": "MONDO:0010379", "name": "Brunner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brunner syndrome", "Brunner syndrome, X-linked recessive", "antisocial behavior, X-linked recessive", "monoamine oxidase A deficiency"], "xref": ["DOID:0060693", "GARD:0003531", "MEDGEN:208683", "MESH:C563156", "OMIM:300615", "Orphanet:3057", "SCTID:718210003", "UMLS:C0796275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010380", "name": "Cataract, ataxia, short stature, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cataract, ataxia, short stature, and intellectual disability", "cataract, ataxia, short stature, and mental retardation"], "xref": ["MEDGEN:375579", "MESH:C535345", "OMIM:300619", "UMLS:C1845094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010381", "name": "Tn polyagglutination syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tn polyagglutination syndrome", "Tn polyagglutination syndrome, somatic"], "xref": ["DOID:0080520", "MEDGEN:82896", "MESH:C562719", "OMIM:300622", "UMLS:C0272137"]}
{"category": ["biolink:Disease"], "description": "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.", "id": "MONDO:0010382", "name": "Fragile x-associated tremor/ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FXTAS syndrome", "Fragile X tremor/ataxia syndrome, X-linked dominant"], "xref": ["DOID:0050879", "GARD:0016806", "MEDGEN:333403", "MESH:C564105", "NANDO:1200690", "NANDO:1200691", "NCIT:C126566", "OMIM:300623", "Orphanet:93256", "SCTID:448045004", "UMLS:C1839780"]}
{"category": ["biolink:Disease"], "description": "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.", "id": "MONDO:0010383", "name": "Fragile x syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FRAXA syndrome", "FXS", "FraX syndrome", "Fragile X syndrome, X-linked dominant", "Martin-Bell syndrome", "fragile X intellectual disability syndrome", "fragile X syndrome", "marker X syndrome"], "xref": ["DOID:14261", "GARD:0006464", "ICD9:759.83", "MEDGEN:8912", "MESH:D005600", "MedDRA:10017324", "NANDO:1200692", "NANDO:2100224", "NANDO:2200840", "NCIT:C84717", "NORD:1159", "OMIM:300624", "Orphanet:908", "SCTID:613003", "UMLS:C0016667", "icd11.foundation:1524287677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010384", "name": "Hypospadias 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypospadias 1, X-linked", "hypospadias 1, X-linked, X-linked recessive"], "xref": ["GARD:0018185", "MEDGEN:394735", "MESH:C567482", "OMIM:300633", "UMLS:C2678098"]}
{"category": ["biolink:Disease"], "description": "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.", "id": "MONDO:0010385", "name": "X-linked lymphoproliferative disease due to xiap deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-linked lymphoproliferative disease due to XIAP deficiency", "X-linked lymphoproliferative syndrome type 2", "XIAP deficiency", "XIAP deficiency/XLPs", "XLP2", "lymphoproliferative syndrome, X-linked, 2, X-linked recessive", "lymphoproliferative syndrome, X-linked, type 2"], "xref": ["DOID:0060706", "GARD:0010916", "MEDGEN:336848", "MESH:C564469", "NCIT:C126295", "OMIM:300635", "Orphanet:538934", "UMLS:C1845076"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.", "id": "MONDO:0010386", "name": "Immunodeficiency 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["IKBKG X-linked mendelian susceptibility to mycobacterial diseases", "IKBKG invasive pneumococcal disease, recurrent isolated", "IMD33", "IPD2", "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG", "immunodeficiency 33, Mycobacteriosis, X-linked", "immunodeficiency 33, X-linked recessive", "immunodeficiency type 33", "immunodeficiency without anhidrotic ectodermal dysplasia", "immunodeficiency, isolated", "immunodeficiency, pure", "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG", "invasive pneumococcal disease, recurrent isolated, 2", "invasive pneumococcal disease, recurrent isolated, type 2"], "xref": ["DOID:0112003", "GARD:0012915", "MEDGEN:370376", "MESH:C536289", "MESH:C567070", "OMIM:300584", "OMIM:300636", "Orphanet:319612", "UMLS:C1970879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010388", "name": "Rolandic epilepsy, intellectual disability, and speech dyspraxia, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["rolandic epilepsy, impaired intellectual development, and speech dyspraxia", "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked"], "xref": ["GARD:0018282", "MEDGEN:337150", "MESH:C564467", "OMIM:300643", "UMLS:C1845070"]}
{"category": ["biolink:Disease"], "description": "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.", "id": "MONDO:0010390", "name": "Ocular albinism with late-onset sensorineural deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000592", "MEDGEN:337149", "OMIM:300650", "Orphanet:1000", "SCTID:722054007", "UMLS:C1845069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010391", "name": "Angioma serpiginosum, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["angio serpiginosum, X-linked dominant", "angioma serpiginosum, X-linked"], "xref": ["GARD:0010188", "MEDGEN:1648301", "MESH:C536366", "OMIM:300652", "UMLS:C4721404"]}
{"category": ["biolink:Disease"], "description": "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.", "id": "MONDO:0010392", "name": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to phosphoglycerate kinase 1 deficiency", "PGK1 glycogen storage disease", "Phosphoglycerate Kinase Deficiency", "glycogen storage disease caused by mutation in PGK1", "glycogen storage disease due to phosphoglycerate kinase 1 deficiency", "glycogenosis due to phosphoglycerate kinase 1 deficiency", "phosphoglycerate kinase 1 deficiency, X-linked recessive"], "xref": ["DOID:0111933", "GARD:0007389", "MEDGEN:410166", "MESH:C567067", "NANDO:1200831", "NCIT:C126738", "NORD:1577", "OMIM:300653", "Orphanet:713", "UMLS:C1970848", "icd11.foundation:1396572570"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.", "id": "MONDO:0010393", "name": "Intellectual disability, x-linked 93", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BRWD3 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 93, X-linked recessive", "intellectual disability, X-linked 93", "intellectual disability, X-linked type 93", "mental retardation, X-linked type 93", "non-syndromic X-linked intellectual disability caused by mutation in BRWD3"], "xref": ["DOID:0112045", "GARD:0024722", "MEDGEN:410164", "MESH:C567066", "OMIM:300659", "UMLS:C1970841"]}
{"category": ["biolink:Disease"], "description": "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).", "id": "MONDO:0010395", "name": "Phosphoribosylpyrophosphate synthetase superactivity", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRPP synthetase superactivity", "PRPS1 superactivity", "gout, PRPS-related, X-linked recessive", "phosphoribosylpyrophosphate synthetase superactivity", "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive"], "xref": ["DOID:0111260", "GARD:0004337", "MEDGEN:370358", "MESH:C567064", "OMIM:300661", "Orphanet:3222", "SCTID:723454008", "UMLS:C1970827"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.", "id": "MONDO:0010396", "name": "Developmental and epileptic encephalopathy, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CDKL5 early infantile epileptic encephalopathy", "DEE2", "EIEE2", "developmental and epileptic encephalopathy 2, X-linked dominant", "developmental and epileptic encephalopathy, 2", "early infantile epileptic encephalopathy caused by mutation in CDKL5", "epileptic encephalopathy, early infantile, 2", "epileptic encephalopathy, early infantile, type 2"], "xref": ["DOID:0080467", "GARD:0018617", "MEDGEN:1663579", "MESH:C564064", "OMIM:300672", "Orphanet:505652", "UMLS:C4750718"]}
{"category": ["biolink:Disease"], "description": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.", "id": "MONDO:0010397", "name": "Severe neonatal-onset encephalopathy with microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["encephalopathy, neonatal severe, X-linked recessive", "severe congenital encephalopathy due to MECP2 mutation", "severe neonatal encephalopathy due to MECP2 mutations"], "xref": ["DOID:0111932", "GARD:0017103", "MEDGEN:409616", "MESH:C566878", "NCIT:C132293", "OMIM:300673", "Orphanet:209370", "UMLS:C1968556", "icd11.foundation:240602582"]}
{"category": ["biolink:Disease"], "description": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.", "id": "MONDO:0010398", "name": "Syndromic x-linked intellectual disability 14", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["UPF3B X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in UPF3B", "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive", "intellectual disability, X-linked, syndromic 14", "intellectual disability, X-linked, syndromic type 14", "mental retardation, X-linked, syndromic 14", "mental retardation, X-linked, syndromic type 14", "syndromic X-linked intellectual disability 14", "syndromic X-linked intellectual disability type 14"], "xref": ["DOID:0060821", "GARD:0024723", "MEDGEN:372646", "MESH:C567063", "OMIM:300676", "UMLS:C1970822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010399", "name": "Chromosome xp21 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(X)(p21)", "Glycerol kinase deficiency-contiguous gene syndrome", "Xp21 contiguous gene deletion syndrome", "Xp21 microdeletion syndrome", "chromosome Xp21 deletion syndrome", "complex glycerol kinase deficiency"], "xref": ["DOID:0060427", "GARD:0017246", "ICD9:277.6", "MEDGEN:1373978", "OMIM:300679", "Orphanet:261476", "SCTID:297257004", "UMLS:C4505291"]}
{"category": ["biolink:Disease"], "description": "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.", "id": "MONDO:0010400", "name": "X-linked scapuloperoneal muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-linked SPMD", "X-linked scapuloperoneal syndrome", "scapuloperoneal myopathy, X-linked dominant, X-linked dominant"], "xref": ["GARD:0007608", "MEDGEN:395530", "OMIM:300695", "Orphanet:431272", "UMLS:C2678061"]}
{"category": ["biolink:Disease"], "description": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.", "id": "MONDO:0010401", "name": "X-linked myopathy with postural muscle atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked myopathy with postural muscle atrophy", "XMPMA", "myopathy, X-linked, with postural muscle atrophy, X-linked recessive"], "xref": ["DOID:0070251", "GARD:0017081", "MEDGEN:395525", "OMIM:300696", "Orphanet:178461", "UMLS:C2678055", "icd11.foundation:420677690"]}
{"category": ["biolink:Disease"], "description": "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.", "id": "MONDO:0010402", "name": "Syndromic x-linked intellectual disability 94", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRX94", "MRXS29", "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive", "intellectual disability, X-linked 94", "mental retardation, X-linked 94", "syndromic X-linked intellectual disability 29", "syndromic X-linked intellectual disability 94", "syndromic X-linked intellectual disability Wu type", "syndromic X-linked intellectual disability type 94"], "xref": ["DOID:0060823", "GARD:0027794", "MEDGEN:437111", "MESH:C567479", "OMIM:300699", "Orphanet:364028", "UMLS:C2678051"]}
{"category": ["biolink:Disease"], "description": "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.", "id": "MONDO:0010403", "name": "Albinism-hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Woolf's syndrome", "Ziprkowski–Margolis syndrome"], "xref": ["GARD:0000589", "MEDGEN:375573", "MESH:C537042", "OMIM:300700", "Orphanet:998", "SCTID:722285005", "SCTID:74320008", "UMLS:C1845068"]}
{"category": ["biolink:Disease"], "description": "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.", "id": "MONDO:0010404", "name": "X-linked non progressive cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAX5", "X-linked spinocerebellar ataxia type 5", "spinocerebellar ataxia, X-linked 5, X-linked recessive"], "xref": ["DOID:0111833", "GARD:0017439", "MEDGEN:394718", "MESH:C567478", "OMIM:300703", "Orphanet:314978", "SCTID:766818009", "UMLS:C2678048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010405", "name": "Prostate cancer, hereditary, x-linked 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPCX2", "prostate cancer, hereditary, X-linked 2"], "xref": ["GARD:0015260", "MEDGEN:394426", "MESH:C567477", "OMIM:300704", "UMLS:C2678047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010406", "name": "Chromosome xp11.22 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Xp11.22-linked intellectual disability", "chromosome Xp11.22 duplication syndrome"], "xref": ["DECIPHER:90", "DOID:0112037", "GARD:0022683", "MEDGEN:208679", "OMIM:300705", "UMLS:C0796238"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.", "id": "MONDO:0010407", "name": "Intellectual disability, x-linked syndromic, turner type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Brooks Wisniewski Brown syndrome", "Brooks-Wisniewski-Brown Syndrome", "Brooks-Wisniewski-Brown syndrome", "MRXST", "X-linked intellectual disability, Turner type", "intellectual disability, X-linked syndromic, Turner type", "mental retardation and macrocephaly syndrome", "mental retardation, X-linked, syndromic, Turner type"], "xref": ["DOID:0060811", "DOID:0060829", "GARD:0000081", "MEDGEN:394425", "MESH:C563154", "MESH:C567476", "OMIM:300612", "OMIM:300706", "OMIM:309590", "Orphanet:3056", "Orphanet:85328", "SCTID:725912001", "UMLS:C2678046"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.", "id": "MONDO:0010408", "name": "Syndactyly-telecanthus-anogenital and renal malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["STAR syndrome", "STAR syndrome, X-linked dominant", "syndactyly-telecanthus-anogenital and renal malformations syndrome"], "xref": ["DOID:0111931", "GARD:0010295", "MEDGEN:394424", "MESH:C567475", "OMIM:300707", "Orphanet:140952", "SCTID:723581006", "UMLS:C2678045"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.", "id": "MONDO:0010409", "name": "Syndromic x-linked intellectual disability shrimpton type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRXS9", "intellectual disability, X-linked, syndromic 9", "mental retardation, X-linked, syndromic 9"], "xref": ["DOID:0060813", "GARD:0016751", "MEDGEN:395523", "MESH:C567474", "OMIM:300709", "Orphanet:85324", "UMLS:C2678039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010410", "name": "Alopecia, androgenetic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AGA2", "alopecia, androgenetic, 2"], "xref": ["GARD:0024724", "MEDGEN:395522", "MESH:C567473", "OMIM:300710", "UMLS:C2678038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010411", "name": "Pyloric stenosis, infantile hypertrophic, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IHPS4", "pyloric stenosis, infantile hypertrophic, 4"], "xref": ["MEDGEN:395521", "MESH:C567472", "OMIM:300711", "UMLS:C2678037"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.", "id": "MONDO:0010412", "name": "X-linked intellectual disability-craniofacioskeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["craniofacioskeletal syndrome, X-linked recessive, X-linked dominant"], "xref": ["GARD:0017009", "MEDGEN:394716", "MESH:C567471", "OMIM:300712", "Orphanet:163979", "UMLS:C2678036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010413", "name": "Intellectual disability, x-linked 95", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX95", "intellectual disability, X-linked 95", "mental retardation, X-linked 95, X-linked dominant"], "xref": ["GARD:0022684", "MEDGEN:394715", "MESH:C567470", "OMIM:300716", "UMLS:C2678034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010414", "name": "Myopathy, reducing body, x-linked, early-onset, severe", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, reducing body, X-linked, early-onset, severe", "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant"], "xref": ["GARD:0015261", "MEDGEN:906731", "MESH:C567469", "OMIM:300717", "UMLS:C4225423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010415", "name": "Myopathy, reducing body, x-linked, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, reducing body, X-linked, childhood-onset"], "xref": ["DOID:0080687", "GARD:0015262", "MEDGEN:904593", "MESH:C567468", "OMIM:300718", "UMLS:C4225159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010416", "name": "Deafness, cataract, retinitis pigmentosa, and sperm abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, cataract, retinitis pigmentosa, and sperm abnormalities", "deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive"], "xref": ["MEDGEN:395517", "MESH:C567467", "OMIM:300719", "UMLS:C2678011"]}
{"category": ["biolink:Disease"], "description": "A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.", "id": "MONDO:0010417", "name": "Syndromic x-linked intellectual disability najm type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MICPCH", "MICPCH syndrome", "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome", "intellectual disability and microcephaly with pontine and cerebellar hypoplasia", "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia", "mental retardation and microcephaly with pontine and cerebellar hypoplasia", "mental retardation, X-linked, syndromic, Najm type", "syndromic X-linked intellectual disability Najm type"], "xref": ["DOID:0060807", "GARD:0012669", "MEDGEN:437070", "MESH:C567466", "OMIM:300749", "Orphanet:163937", "UMLS:C2677903"]}
{"category": ["biolink:Disease"], "description": "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.", "id": "MONDO:0010418", "name": "Hereditary spastic paraplegia 34", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG34", "X-linked spastic paraplegia type 34", "hereditary spastic paraplegia type 34", "spastic paraplegia 34, X-linked, X-linked recessive"], "xref": ["DOID:0110785", "GARD:0017063", "MEDGEN:437069", "MESH:C567465", "OMIM:300750", "Orphanet:171607", "SCTID:763370008", "UMLS:C2677897"]}
{"category": ["biolink:Disease"], "description": "An erythropoietic protoporphyria in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria.", "id": "MONDO:0010420", "name": "X-linked erythropoietic protoporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ALAS2-related erythropoietic protoporphyria", "X-linked dominant erythropoietic protoporphyria", "X-linked dominant protoporphyria", "XLDPP", "XLPP", "erythropoietic protoporphyria, X-linked"], "xref": ["GARD:0017755", "MEDGEN:394385", "MESH:C567464", "NANDO:1200818", "NANDO:2201269", "OMIM:300752", "Orphanet:443197", "UMLS:C2677889"]}
{"category": ["biolink:Disease"], "description": "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.", "id": "MONDO:0010421", "name": "Bruton-type agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BTK-deficiency", "Bruton type agammaglobulinemia", "Bruton's Sex-linked agammaglobulinemia", "Bruton's X-linked agammaglobulinemia", "Bruton-type agammaglobulinemia", "X-linked agammaglobulinemia", "agammaglobulinemia, X-linked 1, X-linked recessive"], "xref": ["DOID:14179", "GARD:0001033", "MEDGEN:65123", "MESH:C537409", "MedDRA:10060360", "NANDO:1200343", "NANDO:2200716", "NCIT:C3822", "OMIM:300755", "Orphanet:47", "SCTID:65880007", "UMLS:C0221026"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.", "id": "MONDO:0010422", "name": "Alzheimer disease 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AD16", "Alzheimer disease 16", "Alzheimer's disease 16", "Alzheimer's disease type 16"], "xref": ["DOID:0110036", "MEDGEN:394384", "MESH:C567463", "OMIM:300756", "UMLS:C2677888"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010423", "name": "Hypospadias 2, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypospadias 2, X-linked", "hypospadias 2, X-linked, X-linked recessive"], "xref": ["GARD:0018186", "MEDGEN:437064", "MESH:C567462", "OMIM:300758", "UMLS:C2677879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010424", "name": "Surfactant metabolism dysfunction, pulmonary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["surfactant metabolism dysfunction, pulmonary, 4", "surfactant metabolism dysfunction, pulmonary, type 4"], "xref": ["GARD:0015263", "MEDGEN:393858", "MESH:C567461", "OMIM:300770", "UMLS:C2677877"]}
{"category": ["biolink:Disease"], "description": "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.", "id": "MONDO:0010425", "name": "Lisch epithelial corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LECD", "Lisch epithelial corneal dystrophy", "band-shaped and whorled microcystic dystrophy of the corneal epithelium", "corneal dystrophy, Lisch epithelial, X-linked dominant"], "xref": ["DOID:0060450", "GARD:0016877", "MEDGEN:411737", "MESH:C567588", "OMIM:300778", "OMIM:620763", "Orphanet:98955", "SCTID:724175002", "UMLS:C2749050", "icd11.foundation:1571503165"]}
{"category": ["biolink:Disease"], "description": "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.", "id": "MONDO:0010426", "name": "X-linked endothelial corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XECD", "corneal dystrophy, endothelial, X-linked, X-linked dominant"], "xref": ["DOID:0060446", "GARD:0017339", "MEDGEN:413518", "MESH:C567587", "OMIM:300779", "Orphanet:293621", "SCTID:718579008", "UMLS:C2749049", "icd11.foundation:1842066261"]}
{"category": ["biolink:Disease"], "description": "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.", "id": "MONDO:0010427", "name": "Syndromic x-linked intellectual disability raymond type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXSR", "intellectual disability, X-linked syndromic, Raymond type", "syndromic X-linked intellectual disability Raymond type"], "xref": ["DOID:0060824", "GARD:0015264", "MEDGEN:477037", "OMIM:300799", "UMLS:C3275406"]}
{"category": ["biolink:Disease"], "description": "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.", "id": "MONDO:0010428", "name": "Chromosome xp11.23-p11.22 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Xp11.22-p11.23 Microduplication", "chromosome Xp11.23-p11.22 duplication syndrome", "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant"], "xref": ["DECIPHER:89", "DOID:0060461", "GARD:0012766", "MEDGEN:440690", "MESH:C567585", "OMIM:300801", "Orphanet:217377", "SCTID:721881008", "UMLS:C2749022"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.", "id": "MONDO:0010429", "name": "Intellectual disability, x-linked 96", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SYP non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 96, X-linked recessive", "intellectual disability, X-linked 96", "intellectual disability, X-linked type 96", "mental retardation, X-linked type 96", "non-syndromic X-linked intellectual disability caused by mutation in SYP"], "xref": ["DOID:0112035", "GARD:0022685", "MEDGEN:477039", "OMIM:300802", "UMLS:C3275408"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.", "id": "MONDO:0010430", "name": "Intellectual disability, x-linked 97", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZNF711 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 97", "intellectual disability, X-linked 97", "intellectual disability, X-linked type 97", "mental retardation, X-linked type 97", "non-syndromic X-linked intellectual disability caused by mutation in ZNF711"], "xref": ["DOID:0112046", "GARD:0022686", "MEDGEN:440689", "MESH:C567583", "OMIM:300803", "UMLS:C2749020"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.", "id": "MONDO:0010431", "name": "Joubert syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS10", "Joubert syndrome 10", "Joubert syndrome 10, X-linked recessive", "Joubert syndrome caused by mutation in OFD1", "Joubert syndrome type 10", "OFD1 Joubert syndrome"], "xref": ["DOID:0110981", "GARD:0015265", "MEDGEN:440688", "MESH:C567582", "OMIM:300804", "UMLS:C2749019"]}
{"category": ["biolink:Disease"], "description": "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).", "id": "MONDO:0010432", "name": "Thrombophilia, x-linked, due to factor 9 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["deep venous thrombosis, protection against, X-linked recessive", "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive", "thrombophilia, X-linked, due to factor 9 defect", "thrombophilia, X-linked, due to factor IX defect"], "xref": ["DOID:0111899", "GARD:0024725", "MEDGEN:411730", "MESH:C567581", "OMIM:300807", "UMLS:C2749016"]}
{"category": ["biolink:Disease"], "description": "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).", "id": "MONDO:0010434", "name": "Synovial sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Synovialosarcoma", "sarcoma, synovial, malignant", "synovial sarcoma", "synovial sarcoma (disease)"], "xref": ["DOID:5485", "EFO:0001376", "GARD:0007721", "HP:0012570", "ICD9:171.9", "ICDO:9040/3", "MEDGEN:21050", "MESH:D013584", "MedDRA:10042863", "NANDO:2200061", "NCIT:C3400", "OMIM:300813", "ONCOTREE:SYNS", "Orphanet:3273", "SCTID:302851001", "UMLS:C0039101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010435", "name": "Nystagmus 6, congenital, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nystagmus 6, congenital, X-linked", "nystagmus 6, congenital, X-linked, X-linked recessive"], "xref": ["DOID:0111795", "MEDGEN:463102", "OMIM:300814", "UMLS:C3151752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010436", "name": "Chromosome xq28 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome Xq28 duplication syndrome"], "xref": ["GARD:0015266", "MEDGEN:411727", "MESH:C567580", "OMIM:300815", "UMLS:C2749007"]}
{"category": ["biolink:Disease"], "description": "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.", "id": "MONDO:0010437", "name": "Severe x-linked mitochondrial encephalomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 6, X-linked recessive", "combined oxidative phosphorylation deficiency type 6", "mitochondrial encephalomyopathy due to COXPD6", "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"], "xref": ["DOID:0111502", "GARD:0017171", "MEDGEN:463103", "OMIM:300816", "Orphanet:238329", "SCTID:722212004", "UMLS:C3151753"]}
{"category": ["biolink:Disease"], "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.", "id": "MONDO:0010438", "name": "Paroxysmal nocturnal hemoglobinuria 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PIGA paroxysmal nocturnal hemoglobinuria", "pIgA paroxysmal nocturnal hemoglobinuria", "paroxysmal nocturnal hemoglobinuria 1", "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA", "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA", "paroxysmal nocturnal hemoglobinuria type 1", "paroxysmal nocturnal hemoglobinuria, somatic"], "xref": ["GARD:0024726", "MEDGEN:813000", "OMIM:300818", "UMLS:C3806670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010439", "name": "Cardiomyopathy, fatal fetal, due to myocardial calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiomyopathy, fatal fetal, due to myocardial calcification"], "xref": ["MEDGEN:340013", "MESH:C543241", "OMIM:300829", "OMIM:606163", "UMLS:C1853577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010441", "name": "Ck syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CK syndrome", "CK syndrome, X-linked recessive", "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"], "xref": ["DOID:0111898", "GARD:0017210", "MEDGEN:463131", "OMIM:300831", "Orphanet:251383", "UMLS:C3151781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010442", "name": "46,xx sex reversal 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XX Sex reversal type 3", "46,XX sex reversal 3", "46XX sex reversal 3, X-linked dominant"], "xref": ["DOID:0111762", "GARD:0015267", "MEDGEN:463132", "OMIM:300833", "UMLS:C3151782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010443", "name": "Macular degeneration, x-linked atrophic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["macular degeneration, X-linked atrophic", "macular degeneration, X-linked atrophic, X-linked recessive"], "xref": ["DOID:0112157", "GARD:0015268", "MEDGEN:463134", "OMIM:300834", "UMLS:C3151784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010444", "name": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive"], "xref": ["DOID:0112156", "GARD:0017574", "MEDGEN:763770", "OMIM:300835", "Orphanet:363727", "UMLS:C3550856"]}
{"category": ["biolink:Disease"], "description": "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.", "id": "MONDO:0010446", "name": "X-linked cone dysfunction syndrome with myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bornholm eye disease", "Bornholm eye disease, X-linked recessive"], "xref": ["GARD:0016782", "MEDGEN:463611", "MESH:C564092", "OMIM:300843", "Orphanet:90001", "SCTID:718718009", "UMLS:C3159311", "icd11.foundation:290885874"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.", "id": "MONDO:0010447", "name": "Intellectual disability, x-linked 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RPS6KA3 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 19, X-linked dominant", "intellectual disability, X-linked 19", "intellectual disability, X-linked type 19", "mental retardation, X-linked type 19", "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3"], "xref": ["DOID:0112019", "GARD:0022687", "MEDGEN:208676", "MESH:C563141", "OMIM:300844", "UMLS:C0796225"]}
{"category": ["biolink:Disease"], "description": "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.", "id": "MONDO:0010448", "name": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism", "moyamoya disease 4, X-linked recessive"], "xref": ["GARD:0017301", "MEDGEN:463207", "OMIM:300845", "Orphanet:280679", "UMLS:C3151857", "icd11.foundation:673174743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010450", "name": "Intellectual disability, x-linked 89", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX89", "intellectual disability, X-linked 89", "mental retardation, X-linked 89, X-linked dominant"], "xref": ["DOID:0112031", "GARD:0022688", "MEDGEN:333247", "MESH:C564036", "OMIM:300848", "UMLS:C1839082"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.", "id": "MONDO:0010451", "name": "Intellectual disability, x-linked 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDI1 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 41, X-linked dominant", "intellectual disability, X-linked 41", "intellectual disability, X-linked type 41", "mental retardation, X-linked type 41", "non-syndromic X-linked intellectual disability caused by mutation in GDI1"], "xref": ["DOID:0112058", "GARD:0022689", "MEDGEN:854647", "OMIM:300849", "UMLS:C3887939"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.", "id": "MONDO:0010452", "name": "Intellectual disability, x-linked 90", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DLG3 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 90, X-linked recessive", "intellectual disability, X-linked 90", "intellectual disability, X-linked type 90", "mental retardation, X-linked type 90", "non-syndromic X-linked intellectual disability caused by mutation in DLG3"], "xref": ["DOID:0112041", "GARD:0022690", "MEDGEN:477074", "OMIM:300850", "UMLS:C3275443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010453", "name": "Intellectual disability, x-linked 92", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX92", "intellectual disability, X-linked 92", "mental retardation, X-linked 92, X-linked recessive"], "xref": ["DOID:0112032", "GARD:0022691", "MEDGEN:335109", "MESH:C564483", "OMIM:300851", "UMLS:C1845144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010454", "name": "Intellectual disability, x-linked 88", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX88", "intellectual disability, X-linked 88", "intellectual disability, XMEN-linked 88", "mental retardation, X-linked 88"], "xref": ["DOID:0112053", "GARD:0022692", "MEDGEN:477075", "OMIM:300852", "UMLS:C3275444"]}
{"category": ["biolink:Disease"], "description": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.", "id": "MONDO:0010455", "name": "X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cid due to MAGT1 deficiency", "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia", "XMEN", "combined immunodeficiency due to MAGT1 deficiency", "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive"], "xref": ["DOID:0080319", "GARD:0010907", "MEDGEN:477076", "NCIT:C126336", "OMIM:300853", "Orphanet:317476", "SCTID:711481001", "UMLS:C3275445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010456", "name": "Renal cell carcinoma, xp11-associated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["renal cell carcinoma, Xp11-associated", "renal cell carcinoma, papillary, 1"], "xref": ["GARD:0018445", "MEDGEN:477077", "OMIM:300854", "UMLS:C3275446"]}
{"category": ["biolink:Disease"], "description": "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.", "id": "MONDO:0010457", "name": "Ogden syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["N-terminal acetyltransferase deficiency", "OGDNS", "Ogden syndrome", "Ogden syndrome, X-linked recessive, X-linked dominant", "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome", "premature aging appearance-developmental delay-cardiac arrhythmia syndrome"], "xref": ["DOID:0050781", "GARD:0017281", "HGNC:7645", "MEDGEN:477078", "MESH:C536107", "NCIT:C188215", "OMIM:300855", "Orphanet:276432", "UMLS:C3275447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010458", "name": "Hypospadias 4, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0018187", "MEDGEN:477089", "OMIM:300856", "UMLS:C3275458"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.", "id": "MONDO:0010459", "name": "Amyotrophic lateral sclerosis type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALS15", "UBQLN2 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant", "amyotrophic lateral sclerosis caused by mutation in UBQLN2", "amyotrophic lateral sclerosis type 15"], "xref": ["DOID:0060206", "GARD:0015269", "MEDGEN:477090", "OMIM:300857", "UMLS:C3275459"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.", "id": "MONDO:0010460", "name": "Syndromic x-linked intellectual disability 17", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked intellectual disability with alacrima and achalasia", "intellectual disability, X-linked, syndromic 17", "intellectual disability-alacrima-achalasia syndrome", "mental retardation, X-linked, syndromic 17", "mental retardation, X-linked, syndromic 17, X-linked recessive", "syndromic X-linked intellectual disability type 17"], "xref": ["DOID:0060803", "GARD:0017326", "MEDGEN:477091", "OMIM:300858", "Orphanet:289483", "UMLS:C3275460"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.", "id": "MONDO:0010461", "name": "Syndromic x-linked intellectual disability nascimento type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked intellectual disability-nail dystrophy-seizures syndrome", "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive", "intellectual disability, X-linked syndromic, Nascimento-type", "syndromic X-linked intellectual disability Nascimento type"], "xref": ["DOID:0060820", "GARD:0017005", "MEDGEN:477095", "OMIM:300860", "Orphanet:163956", "UMLS:C3275464"]}
{"category": ["biolink:Disease"], "description": "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.", "id": "MONDO:0010462", "name": "Syndromic x-linked intellectual disability chudley-schwartz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRXSCS", "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance", "intellectual disability, X-linked, syndromic, Chudley-Schwartz type", "mental retardation, X-linked, syndromic, Chudley-Schwartz type", "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive"], "xref": ["DOID:0060819", "GARD:0024727", "MEDGEN:477102", "OMIM:300861", "UMLS:C3275471"]}
{"category": ["biolink:Disease"], "description": "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.", "id": "MONDO:0010463", "name": "X-linked dominant chondrodysplasia, chassaing-lacombe type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome", "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant"], "xref": ["DOID:0112106", "GARD:0017007", "MEDGEN:477107", "OMIM:300863", "Orphanet:163966", "SCTID:719837003", "UMLS:C3275476"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.", "id": "MONDO:0010464", "name": "X-linked cerebral-cerebellar-coloboma syndrome syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked intellectual disability, Kroes type", "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive"], "xref": ["GARD:0017006", "MEDGEN:477118", "OMIM:300864", "Orphanet:163961", "UMLS:C3275487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010465", "name": "Kabuki syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Kabuki syndrome 2", "Kabuki syndrome 2, X-linked dominant", "Kabuki syndrome type 2"], "xref": ["GARD:0015270", "MEDGEN:477126", "OMIM:300867", "UMLS:C3275495"]}
{"category": ["biolink:Disease"], "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.", "id": "MONDO:0010466", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE20", "GPIBD4", "MCAHS type 2", "MCAHS2", "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "developmental and epileptic encephalopathy 20", "epileptic encephalopathy, early infantile, 20", "glycosylphosphatidylinositol biosynthesis defect 4", "multiple congenital anomalies-hypotonia-seizures syndrome 2", "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive", "multiple congenital anomalies-hypotonia-seizures syndrome type 2", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA"], "xref": ["DOID:0080139", "GARD:0012777", "MEDGEN:477139", "OMIM:300868", "Orphanet:300496", "UMLS:C3275508"]}
{"category": ["biolink:Disease"], "description": "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.", "id": "MONDO:0010467", "name": "Xq27.3q28 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Xq27.3-q28 microduplication syndrome", "chromosome xq27.3-q28 duplication syndrome, X-linked recessive", "dup(X)(q27.3q28)", "trisomy Xq27.3-q28", "trisomy Xq27.3q28"], "xref": ["GARD:0017247", "MEDGEN:477152", "OMIM:300869", "Orphanet:261483", "UMLS:C3275521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010468", "name": "Aneurysm, intracranial berry, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB5"], "xref": ["DOID:0080968", "GARD:0018321", "MEDGEN:324377", "MESH:C563670", "OMIM:300870", "UMLS:C1835857"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010471", "name": "Cornelia de lange syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cornelia De Lange syndrome type 5", "Cornelia de Lange syndrome 5", "Cornelia de Lange syndrome 5, X-linked dominant"], "xref": ["DOID:0080509", "GARD:0015271", "MEDGEN:763817", "OMIM:300882", "UMLS:C3550903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010472", "name": "Developmental and epileptic encephalopathy, 36", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG13-CDG", "CDG syndrome type Is", "CDG-Is", "CDG1S", "DEE36", "EIEE36", "congenital disorder of glycosylation type 1s", "congenital disorder of glycosylation type Is", "developmental and epileptic encephalopathy 36", "epileptic encephalopathy, early infantile, 36"], "xref": ["DOID:0080470", "GARD:0012401", "MEDGEN:1382656", "OMIM:300884", "Orphanet:324422", "SCTID:733451007", "UMLS:C4317295"]}
{"category": ["biolink:Disease"], "description": "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.", "id": "MONDO:0010473", "name": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXS32", "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive", "intellectual disability, X-linked, syndromic 32", "intellectual disability, X-linked, syndromic type 32", "mental retardation, X-linked, syndromic 32", "mental retardation, X-linked, syndromic type 32"], "xref": ["DOID:0060828", "GARD:0017485", "MEDGEN:763827", "OMIM:300886", "Orphanet:324410", "UMLS:C3550913"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.", "id": "MONDO:0010474", "name": "Linear skin defects with multiple congenital anomalies 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COX7B microphthalmia with linear skin defects syndrome", "linear skin defects with multiple congenital anomalies 2", "linear skin defects with multiple congenital anomalies 2, X-linked dominant", "linear skin defects with multiple congenital anomalies type 2", "microphthalmia with linear skin defects syndrome caused by mutation in COX7B"], "xref": ["DOID:0111877", "GARD:0015272", "MEDGEN:763835", "OMIM:300887", "UMLS:C3550921"]}
{"category": ["biolink:Disease"], "description": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.", "id": "MONDO:0010475", "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHTE", "IGSF1 deficiency syndrome", "Immunoglobulin superfamily member 1 deficiency syndrome", "X-linked central congenital hypothyroidism with late-onset macroorchidism", "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "hypothyroidism Central and testicular enlargement", "hypothyroidism, central, and testicular enlargement, X-linked recessive"], "xref": ["DOID:0111140", "GARD:0017499", "MEDGEN:763877", "NCIT:C130989", "OMIM:300888", "Orphanet:329235", "UMLS:C3550963"]}
{"category": ["biolink:Disease"], "description": "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.", "id": "MONDO:0010476", "name": "Neurodegeneration with brain iron accumulation 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BPAN", "NBIA5", "SENDA", "WDR45 neurodegeneration with brain iron accumulation", "beta-propeller protein-associated neurodegeneration", "neurodegeneration with brain iron accumulation 5", "neurodegeneration with brain iron accumulation 5, X-linked dominant", "neurodegeneration with brain iron accumulation caused by mutation in WDR45", "neurodegeneration with brain iron accumulation type 5", "static encephalopathy Of childhood with neurodegeneration In adulthood", "static encephalopathy of childhood with neurdegeneration in adulthood"], "xref": ["DOID:0110739", "GARD:0012570", "MEDGEN:763887", "NCIT:C175210", "OMIM:300894", "Orphanet:329284", "SCTID:732959007", "UMLS:C3550973"]}
{"category": ["biolink:Disease"], "description": "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.", "id": "MONDO:0010477", "name": "Blepharophimosis - intellectual disability syndrome, mkb type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMRS, MKB type", "BMRS, Maat-Kievit-Brunner type", "Ohdo syndrome, X-linked, X-linked recessive", "X-linked Ohdo syndrome", "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type"], "xref": ["GARD:0017341", "ICD9:759.89", "MEDGEN:785805", "OMIM:300895", "Orphanet:293707", "SCTID:699297004", "UMLS:C3698541"]}
{"category": ["biolink:Disease"], "description": "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).", "id": "MONDO:0010478", "name": "Slc35a2-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIm", "CDG-IIm", "CDG2M", "SLC35A2-CDG", "SLC35A2-congenital disorder of glycosylation", "congenital disorder of glycosylation type 2m", "congenital disorder of glycosylation type IIm", "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant"], "xref": ["DOID:0070265", "GARD:0012403", "MEDGEN:813018", "OMIM:300896", "Orphanet:356961", "UMLS:C3806688"]}
{"category": ["biolink:Disease"], "description": "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).", "id": "MONDO:0010479", "name": "Charcot-marie-tooth disease x-linked dominant 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTX6", "Charcot-Marie-Tooth disease X-linked dominant type 6", "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant", "Charcot-Marie-Tooth disease, X-linked dominant, type 6", "X-linked Charcot-Marie-Tooth disease type 6"], "xref": ["DOID:0110207", "GARD:0012445", "MEDGEN:813032", "OMIM:300905", "Orphanet:352675", "SCTID:763347000", "UMLS:C3806702"]}
{"category": ["biolink:Disease"], "description": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.", "id": "MONDO:0010480", "name": "Anemia, nonspherocytic hemolytic, due to g6pd deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Class I G6PD deficiency", "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient", "anemia, nonspherocytic hemolytic, due to G6PD deficiency", "class I glucose-6-phosphate dehydrogenase deficiency", "hemolytic anaemia due to G6PD deficiency", "hemolytic anemia due to G6PD deficiency", "hemolytic anemia, G6PD deficient (favism), X-linked dominant", "severe hemolytic anaemia due to G6PD deficiency", "severe hemolytic anemia due to G6PD deficiency"], "xref": ["DOID:0051003", "GARD:0006520", "MEDGEN:403555", "MESH:C567533", "OMIM:300908", "Orphanet:466026", "UMLS:C2720289"]}
{"category": ["biolink:Disease"], "description": "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.", "id": "MONDO:0010481", "name": "Angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Edemas, angioneurotic", "Quincke edema", "Quincke oedema", "Quincke's edema", "Quincke's oedema", "Quinckes edema", "Quinckes oedema", "Urticarias, giant", "angioedemas", "angioneurotic Edemas", "edema, Quincke's", "edema, angioneurotic", "giant Urticarias", "giant urticaria", "urticaria, giant"], "xref": ["CSP:2716-7007", "DOID:1558", "EFO:0005532", "HP:0100665", "ICD9:995.1", "MEDGEN:1543", "MESH:D000799", "SCTID:400075008", "UMLS:C0002994"]}
{"category": ["biolink:Disease"], "description": "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.", "id": "MONDO:0010482", "name": "X-linked parkinsonism-spasticity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Parkinsonism with spasticity, X-linked, X-linked recessive", "XPDS"], "xref": ["DOID:0112105", "GARD:0017567", "MEDGEN:813052", "OMIM:300911", "Orphanet:363654", "UMLS:C3806722"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.", "id": "MONDO:0010483", "name": "X-linked intellectual disability, cantagrel type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRX98", "X-linked intellectual developmental disorder-98", "X-linked intellectual disability-98", "XLID98", "intellectual disability, X-linked 98", "intellectual disability, X-linked type 98", "mental retardation, X-linked 98", "mental retardation, X-linked type 98"], "xref": ["DOID:0112044", "GARD:0016743", "MEDGEN:813060", "OMIM:300912", "Orphanet:85277", "SCTID:719016007", "UMLS:C3806730"]}
{"category": ["biolink:Disease"], "description": "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.", "id": "MONDO:0010484", "name": "Hearing loss, x-linked 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hearing loss, X-linked 6"], "xref": ["DOID:0111740", "GARD:0018097", "MEDGEN:813067", "OMIM:300914", "UMLS:C3806737"]}
{"category": ["biolink:Disease"], "description": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.", "id": "MONDO:0010485", "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome", "microphthalmia, syndromic type 13"], "xref": ["DOID:0111811", "GARD:0017709", "MEDGEN:813072", "OMIM:300915", "Orphanet:431140", "UMLS:C3806742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010486", "name": "Olmsted syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Olmsted syndrome, X-linked", "Olmsted syndrome, X-linked, X-linked recessive", "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked"], "xref": ["DOID:0112012", "GARD:0015273", "MEDGEN:813075", "OMIM:300918", "UMLS:C3806745"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.", "id": "MONDO:0010487", "name": "Intellectual disability, x-linked 99", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USP9X non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 99, X-linked recessive", "intellectual disability, X-linked 99", "intellectual disability, X-linked type 99", "mental retardation, X-linked type 99", "non-syndromic X-linked intellectual disability caused by mutation in USP9X"], "xref": ["DOID:0112026", "GARD:0022693", "MEDGEN:813076", "OMIM:300919", "UMLS:C3806746"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.", "id": "MONDO:0010488", "name": "Intellectual disability, x-linked 100", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KIF4A non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 100, X-linked recessive", "intellectual disability, X-linked 100", "intellectual disability, X-linked type 100", "mental retardation, X-linked type 100", "non-syndromic X-linked intellectual disability caused by mutation in KIF4A"], "xref": ["DOID:0112040", "GARD:0024729", "MEDGEN:855516", "OMIM:300923", "UMLS:C3890167"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.", "id": "MONDO:0010489", "name": "Intellectual disability, x-linked 101", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MID2 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 101, X-linked recessive", "intellectual disability, X-linked 101", "intellectual disability, X-linked type 101", "mental retardation, X-linked type 101", "non-syndromic X-linked intellectual disability caused by mutation in MID2"], "xref": ["DOID:0112048", "GARD:0022694", "MEDGEN:855517", "OMIM:300928", "UMLS:C3890168"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).", "id": "MONDO:0010490", "name": "Ssr4-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Iy", "CDG-Iy", "CDG1Y", "SSR4-CDG", "SSR4-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Iy", "congenital disorder of glycosylation type 1y", "congenital disorder of glycosylation type Iy", "congenital disorder of glycosylation, type Iy, X-linked recessive"], "xref": ["DOID:0080574", "GARD:0012405", "MEDGEN:860832", "OMIM:300934", "Orphanet:370927", "SCTID:733115009", "UMLS:C4012395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010491", "name": "X-linked acrogigantism due to xq26 microduplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-LAG (X-linked acrogigantism) due to dup(X)q(26)", "chromosome xq26.3 duplication syndrome, X-linked dominant", "familial infantile gigantism due to Xq26 microduplication", "familial infantile gigantism due to dup(X)q(26)"], "xref": ["GARD:0018433", "MEDGEN:856021", "OMIM:300942", "Orphanet:300373", "Orphanet:448372", "SCTID:768472004", "UMLS:C3891556"]}
{"category": ["biolink:Disease"], "description": "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.", "id": "MONDO:0010492", "name": "Pituitary adenoma, growth hormone-secreting, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GPR101 pituitary gland adenoma", "pituitary adenoma 2, GH-secreting", "pituitary adenoma, Growth hormone-secreting, type 2", "pituitary adenoma, growth hormone-secreting, 2", "pituitary gland adenoma caused by mutation in GPR101"], "xref": ["DOID:0112007", "GARD:0015274", "MEDGEN:860846", "OMIM:300943", "UMLS:C4012409"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.", "id": "MONDO:0010493", "name": "Diamond-blackfan anemia 14 with mandibulofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive", "Diamond-Blackfan anaemia caused by mutation in TSR2", "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive", "Diamond-Blackfan anemia caused by mutation in TSR2", "TSR2 Diamond-Blackfan anaemia", "TSR2 Diamond-Blackfan anemia"], "xref": ["DOID:0111897", "GARD:0015275", "MEDGEN:895657", "OMIM:300946", "UMLS:C4225422"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.", "id": "MONDO:0010494", "name": "Linear skin defects with multiple congenital anomalies 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NDUFB11 microphthalmia with linear skin defects syndrome", "linear skin defects with multiple congenital anomalies 3", "linear skin defects with multiple congenital anomalies 3, X-linked dominant", "linear skin defects with multiple congenital anomalies type 3", "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11"], "xref": ["DOID:0111876", "GARD:0015276", "MEDGEN:906997", "OMIM:300952", "UMLS:C4225421"]}
{"category": ["biolink:Disease"], "description": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.", "id": "MONDO:0010495", "name": "Trichothiodystrophy 5, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RNF113A nonphotosensitive trichothiodystrophy", "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A", "trichothiodystrophy 5, nonphotosensitive"], "xref": ["DOID:0111868", "GARD:0015277", "MEDGEN:899675", "OMIM:300953", "UMLS:C4225420"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.", "id": "MONDO:0010496", "name": "X-linked intellectual disability-short stature-overweight syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked 12, X-linked recessive", "intellectual disability, X-linked type 12", "mental retardation, X-linked type 12"], "xref": ["DOID:0112056", "GARD:0017800", "MEDGEN:901885", "OMIM:300957", "Orphanet:457240", "UMLS:C0796218"]}
{"category": ["biolink:Disease"], "description": "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.", "id": "MONDO:0010497", "name": "Intellectual disability, x-linked 102", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["DDX3X non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant", "intellectual disability, X-linked 102", "intellectual disability, X-linked type 102", "mental retardation, X-linked type 102", "non-syndromic X-linked intellectual disability caused by mutation in DDX3X"], "xref": ["GARD:0024730", "MEDGEN:1715418", "NCIT:C129931", "OMIM:300958", "UMLS:C5393299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010498", "name": "Mend syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEND syndrome", "MEND syndrome, X-linked recessive", "Male EBP disorder with neurological defects"], "xref": ["DOID:0111865", "GARD:0017666", "MEDGEN:905986", "OMIM:300960", "Orphanet:401973", "UMLS:C4085243"]}
{"category": ["biolink:Disease"], "description": "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.", "id": "MONDO:0010499", "name": "Ritscher-schinzel syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC22 Ritscher-Schinzel syndrome", "RTSC2", "Ritscher-Schinzel syndrome 2", "Ritscher-Schinzel syndrome 2, X-linked recessive", "Ritscher-Schinzel syndrome caused by mutation in CCDC22", "Ritscher-Schinzel syndrome type 2"], "xref": ["DOID:0060572", "GARD:0015278", "MEDGEN:897005", "OMIM:300963", "UMLS:C4225419"]}
{"category": ["biolink:Disease"], "description": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.", "id": "MONDO:0010500", "name": "Intellectual disability, x-linked, syndromic 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRXS33", "TAF1 X-linked syndromic intellectual disability", "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "X-linked syndromic intellectual disability caused by mutation in TAF1", "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive", "intellectual disability, X-linked, syndromic type 33", "mental retardation, X-linked, syndromic 33", "mental retardation, X-linked, syndromic type 33"], "xref": ["GARD:0024731", "MEDGEN:895979", "OMIM:300966", "Orphanet:480907", "UMLS:C4225418"]}
{"category": ["biolink:Disease"], "description": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.", "id": "MONDO:0010501", "name": "Syndromic x-linked intellectual disability 34", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRXS34", "MRXSML", "NONO X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in NONO", "intellectual developmental disorder, X-linked syndromic 34", "intellectual disability, X-linked, syndromic 34", "intellectual disability, X-linked, syndromic type 34", "macrocephaly-intellectual disability-left ventricular non compaction syndrome", "mental retardation, X-linked, syndromic 34", "mental retardation, X-linked, syndromic type 34", "syndromic X-linked intellectual disability Mircsof-Langouet type", "syndromic X-linked intellectual disability type 34"], "xref": ["DOID:0060817", "GARD:0017832", "MEDGEN:902184", "OMIM:300967", "Orphanet:466791", "UMLS:C4225417"]}
{"category": ["biolink:Disease"], "description": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.", "id": "MONDO:0010502", "name": "Intellectual disability, x-linked 99, syndromic, female-restricted", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRXS99F", "USP9X X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in USP9X", "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant", "intellectual disability, X-linked 99, syndromic, female-restricted", "mental retardation, X-linked 99, syndromic, female-restricted"], "xref": ["DOID:0112025", "GARD:0024732", "MEDGEN:899839", "OMIM:300968", "UMLS:C4225416"]}
{"category": ["biolink:Disease"], "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.", "id": "MONDO:0010503", "name": "Bartter disease type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BARTS5", "Bartter syndrome caused by mutation in MAGED2", "Bartter syndrome, type 5, antenatal, transient", "Bartter syndrome, type 5, antenatal, transient, X-linked recessive", "MAGED2 Bartter syndrome"], "xref": ["DOID:0110147", "GARD:0022308", "MEDGEN:934787", "OMIM:300971", "Orphanet:570371", "UMLS:C4310820"]}
{"category": ["biolink:Disease"], "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.", "id": "MONDO:0010504", "name": "Immunodeficiency 47", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP6AP1 primary immunodeficiency disease", "IMD47", "immunodeficiency 47", "immunodeficiency 47, X-linked recessive", "immunodeficiency type 47", "primary immunodeficiency disease caused by mutation in ATP6AP1"], "xref": ["DOID:0112002", "GARD:0024733", "MEDGEN:934786", "OMIM:300972", "Orphanet:692790", "UMLS:C4310819"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.", "id": "MONDO:0010505", "name": "Intellectual disability-balding-patella luxation-acromicria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHLTS", "Scholte syndrome", "Scholte-Begeer-van Essen syndrome"], "xref": ["GARD:0000257", "MEDGEN:401129", "MESH:C536638", "OMIM:300977", "Orphanet:3041", "SCTID:722002002", "UMLS:C1866985"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.", "id": "MONDO:0010506", "name": "Intellectual disability, x-linked 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX61", "RLIM non-syndromic X-linked intellectual disability", "Tonne-Kalscheuer syndrome", "intellectual disability, X-linked 61", "intellectual disability, X-linked type 61", "mental retardation, X-linked 61", "mental retardation, X-linked type 61", "non-syndromic X-linked intellectual disability caused by mutation in RLIM"], "xref": ["DOID:0112042", "GARD:0022695", "MEDGEN:924419", "OMIM:300978", "UMLS:C4283894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010507", "name": "Xq25 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Xq25 duplication syndrome"], "xref": ["GARD:0017955", "MEDGEN:935016", "NCIT:C177544", "OMIM:300979", "Orphanet:521258", "UMLS:C4311049"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.", "id": "MONDO:0010508", "name": "Intellectual disability, x-linked 103", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KLHL15 non-syndromic X-linked intellectual disability", "MRX103", "intellectual developmental disorder, X-linked 103, X-linked recessive", "intellectual disability, X-linked 103", "intellectual disability, X-linked type 103", "mental retardation, X-linked 103", "mental retardation, X-linked type 103", "non-syndromic X-linked intellectual disability caused by mutation in KLHL15"], "xref": ["DOID:0112020", "GARD:0024734", "MEDGEN:934785", "OMIM:300982", "UMLS:C4310818"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.", "id": "MONDO:0010509", "name": "Intellectual disability, x-linked 104", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FRMPD4 non-syndromic X-linked intellectual disability", "MRX104", "intellectual developmental disorder, X-linked 104", "intellectual disability, X-linked 104", "intellectual disability, X-linked type 104", "mental retardation, X-linked 104", "mental retardation, X-linked type 104", "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4"], "xref": ["DOID:0112018", "GARD:0022696", "MEDGEN:934784", "OMIM:300983", "UMLS:C4310817"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.", "id": "MONDO:0010510", "name": "Intellectual disability, x-linked 105", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRX105", "USP27X non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 105, X-linked recessive", "intellectual disability, X-linked 105", "intellectual disability, X-linked type 105", "mental retardation, X-linked 105", "mental retardation, X-linked type 105", "non-syndromic X-linked intellectual disability caused by mutation in USP27X"], "xref": ["DOID:0112036", "GARD:0022697", "MEDGEN:934783", "OMIM:300984", "UMLS:C4310816"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010511", "name": "Vas deferens, congenital bilateral aplasia of, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CBAVDX", "congenital bilateral absence of vas deferens, X-linked", "vas deferens, congenital bilateral aplasia of, X-linked"], "xref": ["DOID:0111863", "GARD:0015279", "MEDGEN:934782", "OMIM:300985", "UMLS:C4310815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010512", "name": "Intellectual disability, x-linked, syndromic, bain type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXSB", "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant", "intellectual disability, X-linked, syndromic, Bain type", "mental retardation, X-linked, syndromic, Bain type"], "xref": ["DOID:0070538", "GARD:0013442", "MEDGEN:934781", "OMIM:300986", "Orphanet:662198", "UMLS:C4310814"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010514", "name": "Combined immunodeficiency due to moesin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CID due to Moesin deficiency", "IMD50", "MSN-related combined immunodeficiency", "X-linked Moesin-associated immunodeficiency", "immunodeficiency 50", "immunodeficiency type 50"], "xref": ["DOID:0112001", "GARD:0017939", "MEDGEN:1799546", "OMIM:300988", "Orphanet:504530", "UMLS:C5568123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010515", "name": "Meester-loeys syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRLS", "Meester-Loeys syndrome"], "xref": ["DOID:0111861", "GARD:0024735", "MEDGEN:934778", "NCIT:C187989", "OMIM:300989", "UMLS:C4310811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010516", "name": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MFHIEN", "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive"], "xref": ["DOID:0111859", "GARD:0024736", "MEDGEN:934777", "OMIM:300990", "Orphanet:688581", "UMLS:C4310810"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.", "id": "MONDO:0010517", "name": "Ciliary dyskinesia, primary, 36, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD36", "PIH1D3 primary ciliary dyskinesia", "ciliary dyskinesia, primary, 36, X-linked", "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive", "primary ciliary dyskinesia caused by mutation in PIH1D3"], "xref": ["DOID:0111850", "GARD:0015280", "MEDGEN:1393107", "OMIM:300991", "UMLS:C4478372"]}
{"category": ["biolink:Disease"], "description": "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.", "id": "MONDO:0010518", "name": "Wiskott-aldrich syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["WAS", "Wiskott Aldrich syndrome", "Wiskott-Aldrich syndrome", "Wiskott-Aldrich syndrome 1", "Wiskott-Aldrich syndrome, X-linked recessive", "eczema-thrombocytopenia-immunodeficiency syndrome", "immunodeficiency 2"], "xref": ["DOID:9169", "GARD:0007895", "ICD10CM:D82.0", "ICD9:279.12", "MEDGEN:21921", "MESH:D014923", "MedDRA:10047992", "NANDO:1200330", "NANDO:2200704", "NCIT:C3448", "OMIM:301000", "Orphanet:906", "SCTID:36070007", "UMLS:C0043194", "icd11.foundation:168952525"]}
{"category": ["biolink:Disease"], "description": "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.", "id": "MONDO:0010519", "name": "Alpha thalassemia-x-linked intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:do_inheritance_inconsistent", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATR, nondeletion type", "ATR-X syndrome", "Alpha Thalassemia X-linked Intellectual Disability Syndrome", "Alpha thalassemia X-linked intellectual disability syndrome", "Alpha thalassemia X-linked mental retardation syndrome", "Alpha thalassemia/intellectual disability syndrome X-linked", "Alpha thalassemia/mental retardation syndrome X-linked", "alpha thalassemia-X-linked intellectual disability syndrome", "alpha-thalassemia/intellectual disability syndrome nondeletion type", "alpha-thalassemia/mental retardation syndrome, X-linked dominant"], "xref": ["DOID:0110030", "GARD:0005864", "MEDGEN:337145", "MESH:C538258", "NANDO:1200665", "NANDO:2100223", "NANDO:2200839", "NCIT:C118631", "NORD:753", "OMIM:301040", "Orphanet:847", "SCTID:715342005", "UMLS:C1845055"]}
{"category": ["biolink:Disease"], "description": "X-linked form of Alport syndrome.", "id": "MONDO:0010520", "name": "X-linked alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alport syndrome 1, X-linked, X-linked dominant", "Alport syndrome, X-linked", "X-linked Alport syndrome", "nephropathy and deafness, X-linked"], "xref": ["DOID:0110034", "GARD:0016774", "MEDGEN:1648433", "MedDRA:10001843", "OMIM:301050", "Orphanet:88917", "SCTID:717768004", "UMLS:C4746986"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.", "id": "MONDO:0010521", "name": "Amelogenesis imperfecta type 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AIH1", "AMELX amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in AMELX", "amelogenesis imperfecta, type 1E, X-linked dominant"], "xref": ["DOID:0110058", "GARD:0009943", "MEDGEN:336847", "OMIM:301200", "UMLS:C1845053"]}
{"category": ["biolink:Disease"], "description": "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.", "id": "MONDO:0010522", "name": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2", "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2", "amelogenesis imperfecta, type IE, X-linked 2"], "xref": ["DOID:0110059", "GARD:0009944", "MEDGEN:336845", "OMIM:301201", "UMLS:C1845051"]}
{"category": ["biolink:Disease"], "description": "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.", "id": "MONDO:0010523", "name": "X-linked reticulate pigmentary disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PDR", "Partington disease", "X-linked cutaneous amyloidosis", "XLPDR", "familial cutaneous amyloidosis", "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive"], "xref": ["DOID:0111834", "GARD:0016756", "MEDGEN:336844", "MESH:C564461", "OMIM:301220", "Orphanet:85453", "SCTID:717224002", "UMLS:C1845050"]}
{"category": ["biolink:Disease"], "description": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.", "id": "MONDO:0010524", "name": "X-linked sideroblastic anemia with ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASAT", "Pagon-Bird-Detter syndrome", "X-linked sideroblastic anaemia with spinocerebellar ataxia", "X-linked sideroblastic anemia with ataxia", "X-linked sideroblastic anemia with spinocerebellar ataxia", "XLSA-A", "anaemia sideroblastic and spinocerebellar ataxia", "anemia, sideroblastic, with ataxia, X-linked recessive", "sideroblastic anaemia with spinocerebellar ataxia", "sideroblastic anemia with spinocerebellar ataxia"], "xref": ["DOID:0050554", "DOID:0060064", "GARD:0000668", "MEDGEN:335078", "MESH:C536358", "OMIM:301310", "Orphanet:2802", "SCTID:719816006", "UMLS:C1845028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010525", "name": "Neural tube defects, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neural tube defects, X-linked"], "xref": ["GARD:0000669", "MEDGEN:337140", "MESH:C536359", "OMIM:301410", "UMLS:C1845026"]}
{"category": ["biolink:Disease"], "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.", "id": "MONDO:0010526", "name": "Fabry disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-galactosidase A deficiency", "Anderson-Fabry disease", "FD", "Fabry disease", "Fabry's disease", "Fd", "angiokeratoma corporis diffusum", "diffuse angiokeratoma"], "xref": ["DOID:14499", "GARD:0006400", "MEDGEN:8083", "MESH:D000795", "MedDRA:10016016", "NANDO:1200157", "NANDO:2200563", "NCIT:C84701", "NORD:1115", "OMIM:301500", "Orphanet:324", "SCTID:16652001", "UMLS:C0002986", "icd11.foundation:66996647"]}
{"category": ["biolink:Disease"], "description": "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.", "id": "MONDO:0010528", "name": "Anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anosmia", "anosmia (disease)"], "xref": ["HP:0000458", "MEDGEN:1950", "MESH:D000857", "SCTID:44169009", "UMLS:C0003126", "icd11.foundation:1599308422"]}
{"category": ["biolink:Disease"], "description": "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.", "id": "MONDO:0010529", "name": "X-linked spinocerebellar ataxia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAX3", "X-linked ataxia-deafness syndrome", "spinocerebellar ataxia, X-linked type 3"], "xref": ["DOID:0111831", "GARD:0009981", "MEDGEN:337124", "MESH:C537315", "OMIM:301790", "Orphanet:85297", "SCTID:719817002", "UMLS:C1844936", "icd11.foundation:261426817"]}
{"category": ["biolink:Disease"], "description": "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.", "id": "MONDO:0010531", "name": "Contractures-ectodermal dysplasia-cleft lip/palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ladda-Zonana-Ramer syndrome"], "xref": ["GARD:0001515", "MEDGEN:375546", "OMIM:301815", "Orphanet:1484", "SCTID:720746006", "UMLS:C1844935"]}
{"category": ["biolink:Disease"], "description": "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.", "id": "MONDO:0010532", "name": "Infantile-onset x-linked spinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMAX2", "X-linked distal arthrogryposis multiplex congenita", "X-linked spinal muscular atrophy type 2", "spinal muscular atrophy with arthrogryposis", "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive", "spinal muscular atrophy, X-linked type 2"], "xref": ["DOID:0111827", "GARD:0008521", "MEDGEN:337123", "MESH:C535380", "OMIM:301830", "Orphanet:1145", "SCTID:719836007", "UMLS:C1844934"]}
{"category": ["biolink:Disease"], "description": "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.", "id": "MONDO:0010533", "name": "Arts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARTS", "Arts", "Arts syndrome", "Arts syndrome, X-linked recessive", "MRXS18", "MRXSARTS", "lethal ataxia with deafness and optic atrophy", "syndromic X-linked intellectual disability 18", "syndromic X-linked intellectual disability Arts type"], "xref": ["DOID:0050647", "GARD:0008756", "ICD9:277.2", "MEDGEN:163205", "MESH:C535388", "OMIM:301835", "Orphanet:1187", "SCTID:702441001", "UMLS:C0796028"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.", "id": "MONDO:0010534", "name": "X-linked spinocerebellar ataxia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAX4", "X-linked ataxia-dementia syndrome", "spinocerebellar ataxia, X-linked type 4"], "xref": ["DOID:0111832", "GARD:0009980", "MEDGEN:337122", "MESH:C537316", "OMIM:301840", "Orphanet:85292", "SCTID:719818007", "UMLS:C1844933", "icd11.foundation:1033689736"]}
{"category": ["biolink:Disease"], "description": "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.", "id": "MONDO:0010535", "name": "Bazex-dupre-christol syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDCS", "Bazex syndrome", "Bazex syndrome, X-linked dominant", "Bazex-Dupre-Christol syndrome", "Bazex-Dupré-Christol syndrome", "acrokeratosis of Bazex", "acrokeratosis paraneoplastica", "acrokeratosis paraneoplastica of Bazex", "follicular atrophoderma and basal cell carcinomas"], "xref": ["GARD:0000838", "ICD9:757.39", "MEDGEN:87539", "OMIM:301845", "Orphanet:113", "Orphanet:166113", "SCTID:238640007", "SCTID:254820002", "UMLS:C0346104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010536", "name": "Tubulin, beta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tubulin, beta"], "xref": ["MEDGEN:854410", "OMIM:301850", "UMLS:C3887557"]}
{"category": ["biolink:Disease"], "description": "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.", "id": "MONDO:0010537", "name": "Borjeson-forssman-lehmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BFLS", "BORJ", "Borjeson syndrome", "Borjeson-Forssman-Lehmann syndrome", "Borjeson-Forssman-Lehmann syndrome, X-linked recessive", "Börjeson-Forssman-Lehman Syndrome", "MRXSBFL", "intellectual disability, epilepsy, and endocrine disorder", "intellectual disability-epilepsy-endocrine disorders syndrome", "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type"], "xref": ["DOID:0050681", "GARD:0000936", "ICD9:759.89", "MEDGEN:78557", "MESH:C536575", "NORD:866", "OMIM:301900", "Orphanet:127", "SCTID:21634003", "UMLS:C0265339"]}
{"category": ["biolink:Disease"], "description": "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.", "id": "MONDO:0010538", "name": "Mononen-karnes-senac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["skeletal dysplasia-brachydactyly syndrome"], "xref": ["DOID:0110973", "GARD:0004886", "MEDGEN:336815", "MESH:C535914", "OMIM:301940", "Orphanet:2565", "SCTID:733095006", "UMLS:C1844919"]}
{"category": ["biolink:Disease"], "description": "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.", "id": "MONDO:0010539", "name": "X-linked mandibulofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked branchial arch syndrome", "X-linked mandibulofacial dysostosis with limb anomalies", "mandibulofacial dysostosis, Toriello type", "mandibulofacial dysostosis, X-linked"], "xref": ["GARD:0001002", "MEDGEN:375543", "MESH:C537102", "OMIM:301950", "Orphanet:1131", "SCTID:719813003", "UMLS:C1844918", "icd11.foundation:135565112"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.", "id": "MONDO:0010540", "name": "Bullous dystrophy, macular type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001038", "MEDGEN:167089", "MESH:C563065", "OMIM:302000", "Orphanet:1867", "UMLS:C0795974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010541", "name": "X-linked calvarial hyperostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001058", "MEDGEN:1674665", "MESH:C537963", "OMIM:302030", "Orphanet:391327", "UMLS:C5190611"]}
{"category": ["biolink:Disease"], "description": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.", "id": "MONDO:0010542", "name": "Dilated cardiomyopathy 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD3B", "DMD dilated cardiomyopathy", "cardiomyopathy, dilated, type 3B", "dilated cardiomyopathy 3B", "dilated cardiomyopathy caused by mutation in DMD", "dilated cardiomyopathy type 3B"], "xref": ["DOID:0060561", "DOID:0081164", "DOID:0110461", "GARD:0015287", "ICD9:425.4", "MEDGEN:777148", "MESH:C580047", "OMIM:302045", "SCTID:702424003", "UMLS:C3668940"]}
{"category": ["biolink:Disease"], "description": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.", "id": "MONDO:0010543", "name": "Barth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria type 2", "BTHS", "Barth syndrome", "Barth syndrome, X-linked recessive", "MGA2", "X-linked cardioskeletal myopathy and neutropenia", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "cardioskeletal myopathy-neutropenia syndrome"], "xref": ["DOID:0050476", "GARD:0005890", "ICD10CM:E78.71", "MEDGEN:107893", "MESH:D056889", "NANDO:1200991", "NANDO:2200751", "NCIT:C84585", "NORD:840", "OMIM:302060", "Orphanet:111", "SCTID:297231002", "UMLS:C0574083", "icd11.foundation:452199926"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.", "id": "MONDO:0010544", "name": "Cataract 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT40", "NHS early-onset non-syndromic cataract", "cataract 40", "cataract 40 with or without microcornea", "cataract type 40", "early-onset non-syndromic cataract caused by mutation in NHS"], "xref": ["DOID:0110272", "GARD:0008278", "MEDGEN:886621", "MESH:C535338", "OMIM:302200", "UMLS:C4049004"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.", "id": "MONDO:0010545", "name": "Nance-horan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nance-Horan syndrome", "nance-horan syndrome, X-linked dominant"], "xref": ["DOID:0060599", "GARD:0007161", "ICD9:759.89", "MEDGEN:208665", "MESH:C538336", "NORD:1489", "OMIM:302350", "Orphanet:627", "SCTID:445257004", "UMLS:C0796085", "icd11.foundation:938299000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010546", "name": "Central incisors, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central incisors, absence of"], "xref": ["MEDGEN:337110", "OMIM:302400", "UMLS:C1844886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010547", "name": "X-linked progressive cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spinocerebellar ataxia, X-linked 1, X-linked recessive", "spinocerebellar ataxia, X-linked type 1"], "xref": ["DOID:0111829", "GARD:0016558", "MEDGEN:163229", "MESH:C563134", "OMIM:302500", "Orphanet:1175", "UMLS:C0796205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010548", "name": "Spinocerebellar ataxia, x-linked 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia, X-linked 2", "spinocerebellar ataxia, X-linked type 2"], "xref": ["DOID:0111830", "GARD:0009978", "MEDGEN:375535", "MESH:C537314", "OMIM:302600", "UMLS:C1844885"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.", "id": "MONDO:0010549", "name": "Charcot-marie-tooth disease x-linked dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1X", "CMT2", "CMT2, formerly", "CMTX", "CMTX 1", "CMTX1", "Charcot Marie Tooth disease X-linked 1", "Charcot-Marie-Tooth disease X-linked dominant 1", "Charcot-Marie-Tooth disease X-linked dominant type 1", "Charcot-Marie-Tooth disease type X caused by mutation in GJB1", "Charcot-Marie-Tooth disease, X-linked dominant, 1", "Charcot-Marie-Tooth disease, X-linked dominant, type 1", "Charcot-Marie-Tooth disease, X-linked, 1", "Charcot-Marie-Tooth neuropathy X type 1", "Charcot-Marie-Tooth neuropathy, X-linked, 1", "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined", "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked", "GJB1 Charcot-Marie-Tooth disease type X", "HMSN, X-linked", "X-linked Charcot-Marie-Tooth disease type 1", "hereditary motor and sensory neuropathy, X-linked"], "xref": ["DOID:0110209", "GARD:0001258", "MEDGEN:98290", "MESH:C564446", "NCIT:C129068", "OMIM:302800", "OMIM:302900", "Orphanet:101075", "SCTID:763455008", "UMLS:C0393808"]}
{"category": ["biolink:Disease"], "description": "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.", "id": "MONDO:0010550", "name": "Charcot-marie-tooth disease x-linked recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTX 2", "CMTX2", "Charcot Marie Tooth disease X-linked recessive 2", "Charcot-Marie-Tooth disease X-linked recessive type 2", "Charcot-Marie-Tooth disease, X-linked recessive, 2", "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2", "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive", "X-linked Charcot-Marie-Tooth disease type 2"], "xref": ["DOID:0110208", "GARD:0001243", "MEDGEN:336803", "MESH:C535302", "OMIM:302801", "Orphanet:101076", "SCTID:763457000", "UMLS:C1844873"]}
{"category": ["biolink:Disease"], "description": "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.", "id": "MONDO:0010551", "name": "Charcot-marie-tooth disease x-linked recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT3X", "CMTX 3", "CMTX3", "Charcot Marie Tooth disease X-linked recessive 3", "Charcot-Marie-Tooth disease X-linked recessive type 3", "Charcot-Marie-Tooth disease, X-linked recessive, 3", "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3", "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive", "X-linked Charcot-Marie-Tooth disease type 3"], "xref": ["DOID:0110211", "GARD:0001244", "MEDGEN:375530", "MESH:C535303", "OMIM:302802", "Orphanet:101077", "SCTID:763458005", "UMLS:C1844865"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010552", "name": "Charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita"], "xref": ["MEDGEN:337105", "MESH:C538077", "OMIM:302803", "UMLS:C1844864"]}
{"category": ["biolink:Disease"], "description": "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.", "id": "MONDO:0010554", "name": "Abruzzo-erickson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABERS", "Abruzzo-Erickson syndrome", "CHARGE-like syndrome", "cleft palate-coloboma-deafness syndrome"], "xref": ["DOID:0111826", "GARD:0000360", "MEDGEN:375529", "MESH:C535559", "OMIM:302905", "Orphanet:921", "SCTID:718574003", "UMLS:C1844862"]}
{"category": ["biolink:Disease"], "description": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.", "id": "MONDO:0010555", "name": "X-linked chondrodysplasia punctata 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["ARSE X-linked chondrodysplasia punctata", "X-linked chondrodysplasia punctata 1", "X-linked chondrodysplasia punctata caused by mutation in ARSE", "X-linked chondrodysplasia punctata caused by mutation in arse", "arse X-linked chondrodysplasia punctata", "brachytelephalangic chondrodysplasia punctata", "chondrodysplasia punctata, X-linked recessive, X-linked recessive"], "xref": ["GARD:0001296", "MEDGEN:777171", "NANDO:2201356", "NANDO:2201360", "OMIM:302950", "Orphanet:79345", "UMLS:C3669395"]}
{"category": ["biolink:Disease"], "description": "X-linked form of chondrodysplasia punctata.", "id": "MONDO:0010556", "name": "X-linked chondrodysplasia punctata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["CPXD", "chondrodysplasia punctata, X-linked"], "xref": ["DOID:0060292", "GARD:0024737", "MEDGEN:538019", "UMLS:C0263627"]}
{"category": ["biolink:Disease"], "description": "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.", "id": "MONDO:0010557", "name": "Choroideremia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHM", "Tapetochoroidal dystrophy", "choroideremia", "progressive choroidal atrophy"], "xref": ["DOID:9821", "GARD:0006061", "ICD10CM:H31.21", "ICD9:363.55", "MEDGEN:944", "MESH:D015794", "MedDRA:10008791", "NCIT:C34469", "NORD:932", "OMIM:303100", "Orphanet:180", "SCTID:75241009", "UMLS:C0008525", "icd11.foundation:217923263"]}
{"category": ["biolink:Disease"], "description": "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.", "id": "MONDO:0010558", "name": "Choroideremia-deafness-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ayazi syndrome", "Xq21 deletion syndrome, X-linked recessive"], "xref": ["GARD:0000369", "MEDGEN:763933", "MESH:C537793", "OMIM:303110", "Orphanet:1435", "SCTID:717761005", "UMLS:C3551019"]}
{"category": ["biolink:Disease"], "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.", "id": "MONDO:0010559", "name": "Masa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gareis-Mason syndrome", "MASA syndrome", "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "masa syndrome, X-linked recessive", "spastic paraplegia, X-linked"], "xref": ["DOID:0060246", "GARD:0006986", "MEDGEN:162894", "NCIT:C129930", "OMIM:303350", "Orphanet:2466", "SCTID:716996008", "UMLS:C0795953", "icd11.foundation:1973644723"]}
{"category": ["biolink:Disease"], "description": "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.", "id": "MONDO:0010560", "name": "Cleft palate with or without ankyloglossia, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked cleft palate and ankyloglossia", "cleft palate with ankyloglossia", "cleft palate with or without ankyloglossia, X-linked"], "xref": ["DOID:0060613", "GARD:0001394", "MEDGEN:375520", "MESH:C536426", "OMIM:303400", "Orphanet:324601", "SCTID:766761000", "UMLS:C1844830"]}
{"category": ["biolink:Disease"], "description": "A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.", "id": "MONDO:0010561", "name": "Coffin-lowry syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLS", "Coffin Lowry Syndrome", "Coffin-Lowry syndrome", "Coffin-Lowry syndrome, X-linked dominant"], "xref": ["DOID:3783", "GARD:0006123", "ICD9:759.89", "MEDGEN:75556", "MESH:C536435", "MESH:D038921", "NANDO:1200660", "NANDO:2200952", "NCIT:C84643", "NORD:983", "OMIM:303600", "Orphanet:192", "SCTID:15182000", "UMLS:C0265252", "icd11.foundation:380089065"]}
{"category": ["biolink:Disease"], "description": "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.", "id": "MONDO:0010562", "name": "Colonic atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atresia of colon", "colon atresia", "colonic atresia", "colonic atresia (disease)", "congenital atresia of colon"], "xref": ["GARD:0001446", "HP:0010448", "MEDGEN:75605", "MESH:C562562", "NCIT:C101024", "OMIM:303650", "Orphanet:1198", "SCTID:37054000", "UMLS:C0266190"]}
{"category": ["biolink:Disease"], "description": "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.", "id": "MONDO:0010563", "name": "Blue cone monochromacy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["S cone monochromacy", "S cone monochromatism", "X-linked incomplete achromatopsia", "atypical X-linked achromatopsia", "blue cone monochromacy", "blue cone monochromacy, X-linked recessive", "blue cone monochromatism", "color blindness, blue monocone monochromatic type", "colour blindness, blue monocone monochromatic type"], "xref": ["DOID:0050679", "GARD:0000917", "MEDGEN:87386", "MESH:C536238", "OMIM:303700", "Orphanet:16", "SCTID:24704003", "UMLS:C0339537"]}
{"category": ["biolink:Disease"], "description": "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.", "id": "MONDO:0010564", "name": "Red-green color blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Deutan defect", "colorblindness, deutan", "deuteranopia", "partial achromatopsia, deutan type"], "xref": ["DOID:13909", "EFO:0005581", "GARD:0027795", "ICD10CM:H53.53", "ICD9:368.52", "MEDGEN:102324", "OMIM:303800", "Orphanet:319698", "SCTID:77479002", "UMLS:C0155016"]}
{"category": ["biolink:Disease"], "description": "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.", "id": "MONDO:0010565", "name": "Red color blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorblindness, protan", "partial achromatopsia, protan type", "protan defect", "protanopia", "red color blindness"], "xref": ["DOID:13910", "EFO:0005580", "ICD10CM:H53.54", "ICD9:368.51", "MEDGEN:56350", "OMIM:303900", "Orphanet:319691", "SCTID:51445007", "UMLS:C0155015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010566", "name": "X-linked cone-rod dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORDX1", "X-linked cone-rod dystrophy type 1", "cone-rod dystrophy, X-linked, 1, X-linked recessive", "cone-rod dystrophy, X-linked, type 1"], "xref": ["DOID:0111008", "GARD:0010652", "MEDGEN:336777", "MESH:C564438", "OMIM:304020", "UMLS:C1844776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010567", "name": "Cone dystrophy, x-linked, with tapetal-like sheen", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cone dystrophy, X-linked, with tapetal-like sheen"], "xref": ["GARD:0010119", "MEDGEN:336776", "MESH:C535975", "OMIM:304030", "UMLS:C1844775"]}
{"category": ["biolink:Disease"], "description": "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.", "id": "MONDO:0010568", "name": "Aicardi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIC", "Aicardi syndrome", "Aicardi syndrome, X-linked dominant", "Aicardi’s syndrome", "agenesis of corpus callosum with chorioretinal abnormality", "corpus callosum agenesis of with chorioretinal abnormality", "corpus callosum, agenesis of, with chorioretinal abnormality"], "xref": ["DOID:8461", "GARD:0005764", "MEDGEN:61236", "MESH:D058540", "MedDRA:10054935", "NANDO:1200562", "NCIT:C35256", "NORD:745", "OMIM:304050", "Orphanet:50", "SCTID:80651009", "UMLS:C0175713", "icd11.foundation:2057245946"]}
{"category": ["biolink:Disease"], "description": "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.", "id": "MONDO:0010569", "name": "X-linked complicated corpus callosum dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["corpus callosum, partial agenesis of, X-linked recessive"], "xref": ["GARD:0012526", "MEDGEN:374339", "MESH:C564115", "OMIM:304100", "Orphanet:1497", "UMLS:C1839909", "icd11.foundation:1765391162"]}
{"category": ["biolink:Disease"], "description": "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.", "id": "MONDO:0010570", "name": "Craniofrontonasal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CFND", "CFNS", "Craniofrontonasal Dysplasia", "craniofrontonasal dysplasia", "craniofrontonasal dysplasia, X-linked dominant", "craniofrontonasal syndrome"], "xref": ["DOID:14737", "GARD:0001578", "MEDGEN:65095", "MESH:C536456", "NORD:1012", "OMIM:304110", "Orphanet:1520", "SCTID:715421009", "UMLS:C0220767"]}
{"category": ["biolink:Disease"], "description": "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.", "id": "MONDO:0010571", "name": "Otopalatodigital syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPD 2 syndrome", "OPD II syndrome", "OPD syndrome 2", "Otopalatodigital Syndrome Type I and II", "otopalatodigital syndrome, type II, X-linked dominant"], "xref": ["DOID:0111784", "GARD:0005802", "ICD9:759.89", "MEDGEN:337064", "MESH:C538089", "NORD:1539", "OMIM:304120", "Orphanet:90652", "SCTID:42432003", "UMLS:C1844696", "icd11.foundation:1897308206"]}
{"category": ["biolink:Disease"], "description": "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.", "id": "MONDO:0010572", "name": "Occipital horn syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["occipital horn syndrome", "occipital horn syndrome, X-linked recessive"], "xref": ["DOID:0111272", "GARD:0004017", "MEDGEN:82793", "MESH:C537860", "NANDO:1200654", "NANDO:2200581", "OMIM:304150", "Orphanet:198", "SCTID:59399004", "UMLS:C0268353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010573", "name": "Cutis verticis gyrata, thyroid aplasia, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutis verticis gyrata, thyroid aplasia, and intellectual disability", "cutis verticis gyrata, thyroid aplasia, and mental retardation", "cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome"], "xref": ["MEDGEN:162779", "MESH:C535610", "OMIM:304200", "Orphanet:79482", "UMLS:C0795848"]}
{"category": ["biolink:Disease"], "description": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.", "id": "MONDO:0010574", "name": "Syndromic x-linked intellectual disability 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRX59", "MRXS21", "Pettigrew syndrome", "Pettigrew syndrome, X-linked recessive", "X-linked intellectual disability 59", "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome", "intellectual disability, X-linked syndromic 5", "syndromic X-linked intellectual disability 21", "syndromic X-linked intellectual disability fried type", "syndromic X-linked intellectual disability type 5"], "xref": ["DOID:0060800", "GARD:0008520", "MEDGEN:162924", "NCIT:C124839", "OMIM:304340", "Orphanet:1568", "Orphanet:85329", "SCTID:719139003", "UMLS:C0796254"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.", "id": "MONDO:0010575", "name": "Deafness-hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness-hypogonadism syndrome"], "xref": ["GARD:0001691", "MEDGEN:335003", "MESH:C564435", "OMIM:304350", "Orphanet:90646", "UMLS:C1844680"]}
{"category": ["biolink:Disease"], "description": "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.", "id": "MONDO:0010576", "name": "X-linked mixed hearing loss with perilymphatic gusher", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DFNX2", "X-linked mixed hearing loss with perilymphatic gusher"], "xref": ["DOID:0111737", "GARD:0004504", "ICD9:389.1", "ICD9:389.10", "ICD9:389.14", "MEDGEN:336750", "MedDRA:10040016", "OMIM:304400", "Orphanet:383", "UMLS:C1844678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010577", "name": "Hearing loss, x-linked 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111739", "GARD:0018098", "MEDGEN:336749", "MESH:C564433", "OMIM:304500", "UMLS:C1844677"]}
{"category": ["biolink:Disease"], "description": "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.", "id": "MONDO:0010578", "name": "Deafness dystonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DDON syndrome", "Deafness-Dystonia-Optic Neuronopathy Syndrome", "Mohr-Tranebjaerg syndrome", "Mohr-Tranebjaerg syndrome, X-linked recessive", "deafness dystonia optic neuronopathy syndrome (DDON)", "deafness dystonia syndrome", "deafness-dystonia-optic neuronopathy syndrome"], "xref": ["DOID:0050757", "GARD:0008331", "ICD9:759.89", "MEDGEN:162903", "MESH:C535808", "NORD:280622", "OMIM:304700", "Orphanet:52368", "SCTID:702423009", "UMLS:C0796074"]}
{"category": ["biolink:Disease"], "description": "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.", "id": "MONDO:0010579", "name": "X-linked corneal dermoid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Guízar Vázquez-Luengas-muñoz syndrome", "corneal dystrophy epithelial-short stature syndrome"], "xref": ["GARD:0002580", "MEDGEN:375481", "MESH:C535376", "OMIM:304730", "Orphanet:1661", "SCTID:715426004", "UMLS:C1844671", "icd11.foundation:118076382"]}
{"category": ["biolink:Disease"], "description": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.", "id": "MONDO:0010580", "name": "Immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMSD", "IDDM-secretory diarrhea syndrome", "IDDM-secretory diarrhoea syndrome", "IPEX", "X linked polyendocrinopathy", "X-linked autoimmunity-allergic dysregulation syndrome", "XLAAD", "XPID", "autoimmune enteropathy type 1", "autoimmunity-immunodeficiency syndrome, X-linked", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea", "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "immune dysfunction and diarrhea syndrome", "immune dysfunction and diarrhoea syndrome", "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive"], "xref": ["DOID:0090110", "GARD:0001850", "ICD9:250.81", "MEDGEN:83339", "MESH:C580192", "NANDO:2200924", "NCIT:C131009", "OMIM:304790", "Orphanet:37042", "SCTID:237618001", "UMLS:C0342288", "icd11.foundation:1060287444"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010581", "name": "Diabetes insipidus, nephrogenic, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["diabetes insipidus, nephrogenic, 1, X-linked recessive", "diabetes insipidus, nephrogenic, X-linked"], "xref": ["DOID:0081060", "GARD:0015289", "MEDGEN:288785", "OMIM:304800", "UMLS:C1563705"]}
{"category": ["biolink:Disease"], "description": "X-linked form of Dyggve-Melchior-Clausen disease.", "id": "MONDO:0010583", "name": "Dyggve-melchior-clausen syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Dyggve-Melchior-Clausen disease, X-linked", "Dyggve-Melchior-Clausen syndrome, X-linked", "X-linked Dyggve-Melchior-Clausen disease"], "xref": ["GARD:0015290", "MEDGEN:337052", "OMIM:304950", "UMLS:C1844654"]}
{"category": ["biolink:Disease"], "description": "X-linked form of dyskeratosis congenita.", "id": "MONDO:0010584", "name": "Dyskeratosis congenita, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCX", "Hoyeraal Hreidarsson syndrome", "X-linked dyskeratosis congenita", "Zinsser-Cole-Engman syndrome", "dyskeratosis congenita, X-linked", "dyskeratosis congenita, X-linked, X-linked recessive"], "xref": ["DOID:0070025", "GARD:0002007", "MEDGEN:216941", "NCIT:C126352", "OMIM:305000", "SCTID:708536001", "UMLS:C1148551"]}
{"category": ["biolink:Disease"], "description": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.", "id": "MONDO:0010585", "name": "X-linked hypohidrotic ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Christ-Siemens-Touraine syndrome", "X-linked hypohidrotic ectodermal dysplasia", "XHED", "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive", "hypohidrotic ectodermal dysplasia, X-linked"], "xref": ["DOID:0111664", "GARD:0010427", "MEDGEN:57890", "OMIM:305100", "Orphanet:181", "SCTID:239007005", "UMLS:C0162359", "icd11.foundation:941793098"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.", "id": "MONDO:0010586", "name": "X-linked ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS V", "Ehlers-Danlos syndrome type 5", "Ehlers-Danlos syndrome, X-linked"], "xref": ["GARD:0008505", "MEDGEN:75671", "MESH:C536197", "NCIT:C141423", "OMIM:305200", "Orphanet:75497", "SCTID:67202007", "UMLS:C0268341"]}
{"category": ["biolink:Disease"], "description": "X-linked form of epidermodysplasia verruciformis.", "id": "MONDO:0010587", "name": "Epidermodysplasia verruciformis, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["X-linked epidermodysplasia verruciformis", "epidermodysplasia verruciformis, X-linked"], "xref": ["GARD:0015291", "MEDGEN:337033", "MESH:C564430", "OMIM:305350", "UMLS:C1844589"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.", "id": "MONDO:0010588", "name": "Exudative vitreoretinopathy 2, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NDP exudative vitreoretinopathy", "exudative vitreoretinopathy 2, X-linked", "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant", "exudative vitreoretinopathy caused by mutation in NDP"], "xref": ["DOID:0111413", "GARD:0015292", "MEDGEN:337030", "MESH:C564428", "OMIM:305390", "UMLS:C1844579"]}
{"category": ["biolink:Disease"], "description": "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.", "id": "MONDO:0010589", "name": "Aarskog-scott syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aarskog syndrome, X-linked", "Aarskog-Scott syndrome, X-linked", "Aarskog-Scott syndrome, X-linked recessive", "mental retardation, X-linked syndromic 16, X-linked recessive"], "xref": ["DOID:6683", "GARD:0024738", "ICD9:759.89", "MEDGEN:61234", "MESH:C535331", "MedDRA:10067148", "NCIT:C129720", "OMIM:305400", "SCTID:14921002", "UMLS:C0175701"]}
{"category": ["biolink:Disease"], "description": "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.", "id": "MONDO:0010590", "name": "Fg syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FG Syndrome Type 1", "FG syndrome 1", "FG syndrome caused by mutation in MED12", "MED12 FG syndrome", "Opitz-Kaveggia syndrome, X-linked recessive"], "xref": ["GARD:0002317", "MEDGEN:1768809", "NORD:1142", "OMIM:305450", "Orphanet:93932", "SCTID:1237179007", "UMLS:C5399762"]}
{"category": ["biolink:Disease"], "description": "Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.", "id": "MONDO:0010591", "name": "Fingerprint body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fingerprint body myopathy"], "xref": ["GARD:0012720", "MEDGEN:337026", "MESH:C564425", "OMIM:305550", "Orphanet:97232", "UMLS:C1844560", "icd11.foundation:1251733531"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.", "id": "MONDO:0010592", "name": "Focal dermal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goltz syndrome", "Goltz-Gorlin syndrome", "focal dermal hypoplasia", "focal dermal hypoplasia, X-linked dominant"], "xref": ["DOID:2120", "GARD:0006457", "ICD9:757.39", "MEDGEN:42055", "MESH:D005489", "NCIT:C84715", "NORD:1152", "OMIM:305600", "Orphanet:2092", "SCTID:205573006", "UMLS:C0016395", "icd11.foundation:683166625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010596", "name": "Membranoproliferative glomerulonephritis, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["membranoproliferative glomerulonephritis, X-linked"], "xref": ["GARD:0024739", "MEDGEN:336706", "MESH:C564423", "OMIM:305800", "UMLS:C1844501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010597", "name": "Glutamyl ribose-5-phosphate storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glutamyl ribose-5-phosphate storage disease"], "xref": ["MEDGEN:336179", "MESH:C564422", "OMIM:305920", "UMLS:C1844440"]}
{"category": ["biolink:Disease"], "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.", "id": "MONDO:0010598", "name": "Glycogen storage disease ixa1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PHKA2 glycogen storage disease", "PHKA2-related glycogen storage disease type IX", "glycogen storage disease IXa1", "glycogen storage disease VIII", "glycogen storage disease caused by mutation in PHKA2", "glycogen storage disease type 9A", "glycogen storage disease type IXa", "glycogen storage disease type VIII", "glycogen storage disease, type IXa1, X-linked recessive", "glycogen storage disease, type IXa2, X-linked recessive", "glycogenosis type 9A", "glycogenosis type IXa"], "xref": ["DOID:0111042", "DOID:2751", "GARD:0018386", "MEDGEN:854172", "MESH:C564421", "MESH:D006015", "MedDRA:10053242", "NANDO:1200847", "NANDO:2201164", "OMIM:306000", "SCTID:41527003", "UMLS:C3694531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010599", "name": "Granulomas, congenital cerebral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granulomas, congenital cerebral"], "xref": ["MEDGEN:336683", "MESH:C537294", "OMIM:306300", "UMLS:C1844406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010600", "name": "Granulomatous disease, chronic, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CGD", "chronic granulomatous disease, X-linked", "chronic granulomatous disease, X-linked, X-linked recessive", "chronic granulomatous disease, atypical", "cytochrome B-negative granulomatous disease, chronic, X-linked", "cytochrome B-positive granulomatous disease, chronic, X-linked", "granulomatous disease, chronic, X-linked", "granulomatous disease, chronic, X-linked, variant", "granulomatous disease, chronic, autosomal dominant type"], "xref": ["DOID:0070190", "DOID:0070195", "GARD:0015294", "MEDGEN:336165", "MESH:C564210", "OMIM:138990", "OMIM:306400", "UMLS:C1844376"]}
{"category": ["biolink:Disease"], "description": "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.", "id": "MONDO:0010602", "name": "Hemophilia a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital factor VIII disorder", "factor VIII deficiency", "haemophilia a, X-linked recessive", "haemophilia type A", "haemophilia type a", "hemophilia A", "hemophilia a, X-linked recessive", "hemophilia type A", "hemophilia type a", "hereditary Factor VIII deficiency", "hereditary Factor VIII deficiency disease"], "xref": ["DOID:12134", "GARD:0006591", "ICD10CM:D66", "ICD9:286.0", "MEDGEN:5501", "MESH:D006467", "MedDRA:10016080", "NANDO:2200676", "NCIT:C27146", "NORD:1221", "OMIM:134500", "OMIM:306700", "Orphanet:98878", "SCTID:234440005", "UMLS:C0019069", "icd11.foundation:337607970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010603", "name": "Hemophilia a with vascular abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hemophilia A with vascular abnormality"], "xref": ["GARD:0024740", "MEDGEN:336105", "MESH:C564415", "OMIM:306800", "UMLS:C1844137"]}
{"category": ["biolink:Disease"], "description": "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.", "id": "MONDO:0010604", "name": "Hemophilia b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Christmas disease", "congenital factor IX deficiency", "congenital factor IX disorder", "factor IX deficiency", "haemophilia b, X-linked recessive", "haemophilia type B", "hemophilia B", "hemophilia b, X-linked recessive", "hemophilia type B", "hereditary Factor IX deficiency", "hereditary Factor IX deficiency disease"], "xref": ["DOID:12259", "GARD:0008732", "ICD10CM:D67", "ICD9:286.1", "MEDGEN:945", "MESH:D002836", "MedDRA:10016077", "NANDO:2200677", "NCIT:C26721", "NORD:1222", "OMIM:306900", "Orphanet:98879", "SCTID:41788008", "UMLS:C0008533", "icd11.foundation:1901375668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010605", "name": "Hemopoietic proliferation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemopoietic proliferation"], "xref": ["MEDGEN:336101", "OMIM:306930", "UMLS:C1844026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010606", "name": "Hernia, anterior diaphragmatic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hernia, anterior diaphragmatic"], "xref": ["GARD:0015295", "MEDGEN:334881", "MESH:C564413", "OMIM:306950", "UMLS:C1844025"]}
{"category": ["biolink:Disease"], "description": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.", "id": "MONDO:0010607", "name": "Heterotaxy, visceral, 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZIC3 visceral heterotaxy", "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive", "heterotaxy, visceral, 1, X-linked", "heterotaxy, visceral, 1, X-linked, X-linked recessive", "visceral heterotaxy caused by mutation in ZIC3"], "xref": ["DOID:0051016", "GARD:0008591", "MEDGEN:336609", "MESH:C538116", "OMIM:306955", "UMLS:C1844020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010608", "name": "Hhhh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hhhh syndrome"], "xref": ["MEDGEN:336099", "MESH:C564411", "OMIM:306960", "UMLS:C1844019"]}
{"category": ["biolink:Disease"], "description": "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.", "id": "MONDO:0010610", "name": "Holoprosencephaly-hypokinesia-congenital contractures syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Morse-Rawnsley-Sargent syndrome", "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome"], "xref": ["GARD:0003788", "MEDGEN:336097", "MESH:C564409", "OMIM:306990", "Orphanet:2570", "SCTID:716169009", "UMLS:C1844016"]}
{"category": ["biolink:Disease"], "description": "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.", "id": "MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of the aqueduct of sylvius", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Bickers-Adams syndrome", "HSAS", "X-linked HSAS", "X-linked acqueductal stenosis", "X-linked hydrocephalus", "X-linked hydrocephalus with stenosis of aqueduct of Sylvius", "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "hydrocephalus due to aqueductal stenosis, X-linked recessive", "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive", "hydrocephalus with hirschsprung disease, X-linked recessive", "hydrocephalus with stenosis of the aqueduct of Sylvius"], "xref": ["GARD:0000434", "MEDGEN:75552", "MESH:C536078", "OMIM:307000", "Orphanet:2182", "SCTID:71779008", "UMLS:C0265216", "icd11.foundation:1284135636"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.", "id": "MONDO:0010612", "name": "Hydrocephaly-cerebellar agenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome"], "xref": ["GARD:0001200", "MEDGEN:375335", "MESH:C564407", "OMIM:307010", "Orphanet:1397", "UMLS:C1844005"]}
{"category": ["biolink:Disease"], "description": "An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.", "id": "MONDO:0010613", "name": "Inborn glycerol kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["glycerol kinase deficiency", "glycerol kinase deficiency, X-linked recessive", "inborn error of glycerol kinase activity", "inborn glycerol kinase activity disorder", "rare inborn error of glycerol kinase activity"], "xref": ["DOID:0060363", "GARD:0021311", "MEDGEN:82803", "NANDO:2200505", "OMIM:307030", "Orphanet:308993", "SCTID:124322002", "UMLS:C0268418"]}
{"category": ["biolink:Disease"], "description": "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.", "id": "MONDO:0010614", "name": "X-linked congenital generalized hypertrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Macias Flores-Garcia Cruz-Rivera syndrome", "congenital generalised hypertrichosis, Macias-Flores type", "congenital generalized hypertrichosis, Macias-Flores type", "hypertrichosis, congenital generalized, X-linked dominant"], "xref": ["GARD:0002863", "MEDGEN:1856186", "MESH:C538388", "OMIM:307150", "Orphanet:79495", "UMLS:C5887323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010615", "name": "Isolated growth hormone deficiency type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Fleisher syndrome", "X-linked IGHD", "X-linked isolated growth hormone deficiency", "congenital IGHD type III", "congenital isolated GH deficiency type III", "congenital isolated growth hormone deficiency type III", "isolated growth hormone deficiency type III", "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive"], "xref": ["DOID:0060875", "GARD:0003921", "MEDGEN:141630", "MESH:C537149", "OMIM:307200", "Orphanet:231692", "SCTID:234533006", "UMLS:C0472813"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.", "id": "MONDO:0010617", "name": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sohval-Soffer syndrome"], "xref": ["GARD:0004899", "MEDGEN:334557", "MESH:C564406", "OMIM:307500", "Orphanet:2234", "SCTID:722459008", "UMLS:C1843994"]}
{"category": ["biolink:Disease"], "description": "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).", "id": "MONDO:0010618", "name": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["X-linked hypoparathyroidism"], "xref": ["DOID:0111388", "GARD:0016589", "MEDGEN:87437", "MESH:C563238", "NCIT:C131079", "OMIM:307700", "Orphanet:2239", "UMLS:C0342344", "icd11.foundation:1282942432"]}
{"category": ["biolink:Disease"], "description": "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.", "id": "MONDO:0010619", "name": "X-linked dominant hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked dominant hypophosphatemic rickets", "X-linked hereditary hypophosphatemic rickets", "XLH", "hereditary hypophosphatemic rickets, X-linked", "hypophosphatemic rickets, X-linked", "hypophosphatemic rickets, X-linked dominant, X-linked dominant", "rickets, vitamin D-resistant", "vitamin D-resistant rickets, X-linked"], "xref": ["DOID:0050445", "GARD:0012943", "MEDGEN:196551", "NANDO:1200779", "NCIT:C85234", "OMIM:307800", "Orphanet:89936", "SCTID:82236004", "UMLS:C0733682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010620", "name": "Hypouricemia, familial renal, due to tubular hypersecretion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypouricemia, familial renal, due to tubular hypersecretion"], "xref": ["GARD:0015296", "MEDGEN:334869", "MESH:C564405", "OMIM:307830", "UMLS:C1843972"]}
{"category": ["biolink:Disease"], "description": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.", "id": "MONDO:0010621", "name": "Child syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome"], "xref": ["DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267"]}
{"category": ["biolink:Disease"], "description": "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.", "id": "MONDO:0010622", "name": "Recessive x-linked ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ichthyosis, X Linked", "RXLI", "X-linked ichthyosis", "X-linked recessive ichthyosis", "XLI", "ichthyosis (disease), X-linked", "ichthyosis , X-linked, X-linked recessive", "recessive X-linked ichthyosis", "steroid sulfatase deficiency"], "xref": ["DECIPHER:27", "DOID:1700", "GARD:0007904", "ICD10CM:Q80.1", "MEDGEN:86937", "MedDRA:10048063", "NANDO:1200625", "NCIT:C84779", "NORD:1293", "OMIM:308100", "Orphanet:461", "SCTID:3944006", "UMLS:C0079588", "icd11.foundation:1466487054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010623", "name": "Ichthyosis and male hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Ichthyosis-male hypogonadism syndrome", "ichthyosis and male hypogonadism"], "xref": ["ICD9:759.89", "MEDGEN:333456", "MESH:C537365", "OMIM:308200", "Orphanet:431", "SCTID:2355008", "UMLS:C1839989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010625", "name": "Immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein"], "xref": ["GARD:0024741", "MEDGEN:326624", "MESH:C564120", "OMIM:308220", "UMLS:C1839982"]}
{"category": ["biolink:Disease"], "description": "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.", "id": "MONDO:0010626", "name": "Hyper-igm syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HIGM1", "Hyper IgM Syndromes", "X-linked hyper-IgM syndrome", "XHIGM", "hyper-IgM syndrome due to CD40 ligand deficiency", "hyper-IgM syndrome due to CD40L deficiency", "hyper-IgM syndrome type 1", "hyper-IgM syndrome, X-linked", "hyperimmunoglobulin M syndrome", "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive"], "xref": ["DOID:0060022", "DOID:6620", "GARD:0000073", "MEDGEN:96019", "NCIT:C61244", "NORD:1261", "OMIM:308230", "Orphanet:101088", "SCTID:403835002", "UMLS:C0398689"]}
{"category": ["biolink:Disease"], "description": "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).", "id": "MONDO:0010627", "name": "X-linked lymphoproliferative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Duncan disease", "Purtilo syndrome", "X linked Lymphoproliferative Syndrome", "X-linked lymphoproliferative syndrome", "lymphoproliferative syndrome, X-linked"], "xref": ["DOID:0060705", "GARD:0010915", "ICD9:238.79", "MEDGEN:107498", "MedDRA:10068348", "NANDO:1200351", "NANDO:2200725", "NCIT:C61246", "NORD:1865", "Orphanet:2442", "SCTID:77121009", "UMLS:C0549463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010628", "name": "Immunoglobulin m, level of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["immunoglobulin M, level of"], "xref": ["MEDGEN:327005", "OMIM:308250", "UMLS:C1839966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010629", "name": "Impacted teeth, multiple", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["impacted teeth, multiple"], "xref": ["MEDGEN:327004", "OMIM:308280", "UMLS:C1839965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010630", "name": "Imprinting gene related to retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["imprinting gene related to retinoblastoma"], "xref": ["MEDGEN:333451", "OMIM:308290", "UMLS:C1839964"]}
{"category": ["biolink:Disease"], "description": "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).", "id": "MONDO:0010631", "name": "Incontinentia pigmenti", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bloch-Siemens syndrome", "Bloch-Sulzberger syndrome", "Incontinentia pigmenti syndrome", "incontinentia pigmenti", "incontinentia pigmenti, X-linked dominant"], "xref": ["DOID:12305", "GARD:0006778", "ICD10CM:Q82.3", "MEDGEN:7049", "MESH:D007184", "NANDO:2200974", "NCIT:C84787", "NORD:1300", "OMIM:308300", "Orphanet:464", "SCTID:367520004", "UMLS:C0021171", "Wikipedia:Incongenita_pigmenti", "icd11.foundation:1542530268"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.", "id": "MONDO:0010632", "name": "Developmental and epileptic encephalopathy, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARX early infantile epileptic encephalopathy", "DEE1", "EIEE1", "developmental and epileptic encephalopathy 1, X-linked recessive", "early infantile epileptic encephalopathy caused by mutation in ARX", "early infantile epileptic encephalopathy caused by mutation in arx", "epileptic encephalopathy, early infantile, 1", "epileptic encephalopathy, early infantile, type 1"], "xref": ["DOID:0080468", "GARD:0015298", "MEDGEN:483052", "OMIM:308350", "UMLS:C3463992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010633", "name": "Iris hypoplasia with glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iris hypoplasia with glaucoma"], "xref": ["GARD:0009171", "MEDGEN:326993", "MESH:C535538", "OMIM:308500", "UMLS:C1839928"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010634", "name": "Jaundice, familial obstructive, of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["jaundice, familial obstructive, of infancy"], "xref": ["MEDGEN:326992", "MESH:C564118", "OMIM:308600", "UMLS:C1839927"]}
{"category": ["biolink:Disease"], "description": "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.", "id": "MONDO:0010635", "name": "Hypogonadotropic hypogonadism 1 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ANOS1 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 1 with or without anosmia", "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive", "hypogonadotropic hypogonadism caused by mutation in ANOS1"], "xref": ["DOID:0090094", "GARD:0003071", "MEDGEN:295872", "NCIT:C75480", "OMIM:308700", "UMLS:C1563719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010636", "name": "Kallmann syndrome with spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Kallmann syndrome with spastic paraplegia"], "xref": ["MEDGEN:333437", "MESH:C536873", "OMIM:308750", "UMLS:C1839911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010637", "name": "Keratosis follicularis spinulosa decalvans, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["keratosis follicularis spinulosa decalvans, X-linked", "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive"], "xref": ["DOID:0080754", "GARD:0015299", "MEDGEN:854384", "MESH:C536159", "OMIM:308800", "UMLS:C3887525"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.", "id": "MONDO:0010638", "name": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003099", "MEDGEN:374340", "MESH:C536158", "OMIM:308830", "Orphanet:2339", "UMLS:C1839910"]}
{"category": ["biolink:Disease"], "description": "Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.", "id": "MONDO:0010639", "name": "Laryngeal abductor paralysis-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Plott syndrome"], "xref": ["GARD:0016597", "MEDGEN:1855824", "OMIM:308850", "Orphanet:2375", "SCTID:724178000", "UMLS:C5886766"]}
{"category": ["biolink:Disease"], "description": "A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.", "id": "MONDO:0010641", "name": "X-linked diffuse leiomyomatosis-alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Xq22.3 microdeletion syndrome"], "xref": ["GARD:0002432", "MEDGEN:333429", "MESH:C537113", "OMIM:308940", "Orphanet:1018", "UMLS:C1839884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010642", "name": "Lesch-nyhan phenotype with normal hgprt", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Lesch-Nyhan phenotype with normal HGPRT"], "xref": ["GARD:0024742", "MEDGEN:374332", "OMIM:308950", "UMLS:C1839883"]}
{"category": ["biolink:Disease"], "description": "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).", "id": "MONDO:0010643", "name": "Acute leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["acute leukaemia (disease)", "acute leukemia", "acute leukemia (disease)"], "xref": ["DOID:12603", "EFO:1000068", "GARD:0024743", "HP:0002488", "ICD9:208.0", "ICD9:208.00", "ICDO:9801/3", "MEDGEN:43225", "MESH:C564112", "NCIT:C9300", "SCTID:91855006", "UMLS:C0085669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010644", "name": "Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive"], "xref": ["DOID:0111815", "GARD:0015301", "MEDGEN:333426", "MESH:C545036", "OMIM:308990", "UMLS:C1839874"]}
{"category": ["biolink:Disease"], "description": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.", "id": "MONDO:0010645", "name": "Oculocerebrorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lowe disease", "Lowe oculo-cerebro-renal syndrome", "Lowe oculocerebrorenal syndrome", "Lowe syndrome", "Lowe syndrome, X-linked recessive", "OCR", "OCRL", "oculo-cerebro-renal dystrophy", "oculo-cerebro-renal syndrome", "oculocerebrorenal dystrophy", "oculocerebrorenal syndrome", "oculocerebrorenal syndrome of Lowe", "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency"], "xref": ["DOID:1056", "GARD:0003295", "ICD9:270.8", "MEDGEN:18145", "MESH:D009800", "MedDRA:10051707", "NANDO:2100028", "NANDO:2200188", "NCIT:C84940", "NORD:1379", "OMIM:309000", "Orphanet:534", "SCTID:79385002", "UMLS:C0028860", "icd11.foundation:1392767390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010646", "name": "Macular dystrophy, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["macular dystrophy, X-linked"], "xref": ["GARD:0024744", "MEDGEN:374323", "MESH:C564110", "OMIM:309100", "UMLS:C1839842"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.", "id": "MONDO:0010647", "name": "Spermatogenic failure, x-linked, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TEX11 azoospermia", "azoospermia caused by mutation in TEX11", "spermatogenic failure, X-linked, 2", "spermatogenic failure, X-linked, 2, X-linked recessive", "spermatogenic failure, X-linked, type 2"], "xref": ["DOID:0070185", "GARD:0015302", "MEDGEN:374322", "OMIM:309120", "UMLS:C1839841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010648", "name": "Major affective disorder 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD2", "major affective disorder 2", "major affective disorder 2, X-linked dominant"], "xref": ["DOID:0080221", "MEDGEN:326975", "MESH:C564108", "OMIM:309200", "UMLS:C1839839"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.", "id": "MONDO:0010649", "name": "Isolated congenital megalocornea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital anterior megalophthalmia", "isolated congenital megalocornea", "megalocornea 1, X-linked, X-linked recessive"], "xref": ["GARD:0012648", "MEDGEN:1385311", "OMIM:309300", "Orphanet:91489", "SCTID:734026006", "UMLS:C4518341"]}
{"category": ["biolink:Disease"], "description": "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.", "id": "MONDO:0010650", "name": "Melnick-needles syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Melnick Needles Syndrome", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Melnick-Needles syndrome, X-linked dominant"], "xref": ["DOID:0111788", "GARD:0007011", "ICD9:756.59", "MEDGEN:6292", "MedDRA:10060908", "NORD:1430", "OMIM:309350", "Orphanet:2484", "SCTID:13449007", "UMLS:C0025237"]}
{"category": ["biolink:Disease"], "description": "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.", "id": "MONDO:0010651", "name": "Menkes disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MD", "MNK", "Menkes disease", "Menkes kinky hair syndrome", "Menkes kinky-hair syndrome", "Menkes syndrome", "Mk", "Trichopoliodystrophy", "X-linked copper deficiency", "kinky hair disease", "kinky hair syndrome", "menkes disease, X-linked recessive", "steely hair disease"], "xref": ["DOID:1838", "GARD:0001521", "ICD9:759.89", "MEDGEN:44030", "MESH:D007706", "MedDRA:10027294", "NANDO:1200653", "NANDO:2200580", "NCIT:C75486", "NORD:1440", "OMIM:309400", "Orphanet:565", "SCTID:59178007", "UMLS:C0022716", "icd11.foundation:986728180"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.", "id": "MONDO:0010652", "name": "X-linked intellectual disability-seizures-psoriasis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tranebjaerg-Svejgaard syndrome"], "xref": ["GARD:0005238", "MEDGEN:501947", "MESH:C536978", "OMIM:309480", "Orphanet:3052", "SCTID:719810000", "UMLS:C3501539"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.", "id": "MONDO:0010653", "name": "Renpenning syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Golabi-Ito-Hall syndrome", "Renpenning syndrome", "Renpenning syndrome type 1", "Sutherland-Haan X-linked intellectual disability syndrome", "Sutherland-Haan X-linked mental retardation syndrome", "X-linked intellectual disability Renpenning type", "X-linked intellectual disability due to PQBP1 mutations", "X-linked intellectual disability with spastic diplegia", "X-linked intellectual disability, Renpenning type", "renpenning syndrome, X-linked recessive", "syndromic X-linked intellectual disability 8"], "xref": ["DOID:0060179", "GARD:0009509", "ICD9:759.89", "MEDGEN:208670", "MESH:C537761", "NCIT:C165533", "OMIM:309500", "Orphanet:3242", "SCTID:699669001", "UMLS:C0796135", "icd11.foundation:1415315699"]}
{"category": ["biolink:Disease"], "description": "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0010654", "name": "Partington syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Partington syndrome", "Partington syndrome, X-linked recessive", "Partington-Mulley syndrome", "X-linked intellectual disability-dystonia-dysarthria syndrome"], "xref": ["DOID:14744", "GARD:0004235", "MEDGEN:163237", "OMIM:309510", "Orphanet:94083", "SCTID:702412005", "UMLS:C0796250"]}
{"category": ["biolink:Disease"], "description": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.", "id": "MONDO:0010655", "name": "X-linked intellectual disability with marfanoid habitus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lujan syndrome", "Lujan-Fryns syndrome", "Lujan-Fryns syndrome, X-linked recessive"], "xref": ["DOID:0080985", "GARD:0003307", "MEDGEN:167096", "MESH:C537724", "OMIM:309520", "Orphanet:776", "SCTID:422437002", "UMLS:C0796022"]}
{"category": ["biolink:Disease"], "description": "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.", "id": "MONDO:0010656", "name": "Intellectual disability, x-linked 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IQSEC2-related disorder", "IQSEC2-related syndromic intellectual disability", "MRX", "MRX1", "MRX78", "intellectual developmental disorder, X-linked 1, X-linked dominant", "intellectual disability, X-linked 1", "mental retardation, X-linked 1", "mental retardation, X-linked 18", "mental retardation, X-linked 78", "mental retardation, X-linked type 1"], "xref": ["DOID:0112038", "GARD:0022699", "MEDGEN:444070", "MESH:C564489", "MESH:C567906", "NCIT:C133729", "OMIM:309530", "Orphanet:397933", "UMLS:C2931498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010657", "name": "Methylmalonic acidemia with homocystinuria, type cblx", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX", "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive", "methylmalonic aciduria with homocystinuria, type cblX"], "xref": ["DOID:0111814", "GARD:0013137", "MEDGEN:167111", "MESH:C563136", "OMIM:309541", "Orphanet:369962", "UMLS:C0796208"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.", "id": "MONDO:0010658", "name": "Syndromic x-linked intellectual disability 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked intellectual disability, Wilson type", "intellectual disability, X-linked, syndromic 12", "mental retardation, X-linked, syndromic 12", "syndromic X-linked intellectual disability type 12"], "xref": ["DOID:0060804", "GARD:0016747", "MEDGEN:333405", "MESH:C564106", "OMIM:309545", "Orphanet:85290", "SCTID:719009006", "UMLS:C1839792"]}
{"category": ["biolink:Disease"], "description": "A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.", "id": "MONDO:0010659", "name": "Fraxe intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FRAXE intellectual disability", "intellectual developmental disorder, X-linked 109, X-linked recessive", "intellectual disability associated with fragile site FRAXE"], "xref": ["DOID:0080984", "GARD:0002378", "MEDGEN:155512", "OMIM:309548", "Orphanet:100973", "SCTID:716709002", "UMLS:C0751157"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.", "id": "MONDO:0010660", "name": "Intellectual disability, x-linked 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTSJ1 non-syndromic X-linked intellectual disability", "intellectual developmental disorder, X-linked 9, X-linked recessive", "intellectual disability, X-linked 9", "intellectual disability, X-linked type 9", "mental retardation, X-linked type 9", "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1"], "xref": ["DOID:0112034", "GARD:0022700", "MEDGEN:167112", "MESH:C563137", "OMIM:309549", "UMLS:C0796215"]}
{"category": ["biolink:Disease"], "description": "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.", "id": "MONDO:0010661", "name": "Severe x-linked intellectual disability, gustavson type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081123", "GARD:0005611", "MEDGEN:167088", "MESH:C536759", "OMIM:309555", "Orphanet:3078", "SCTID:722213009", "UMLS:C0795965"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.", "id": "MONDO:0010662", "name": "Paraplegia-intellectual disability-hyperkeratosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fitzsimmons-McLachlan-Gilbert syndrome"], "xref": ["GARD:0002344", "MEDGEN:411554", "MESH:C537058", "OMIM:309560", "Orphanet:2824", "UMLS:C2745996"]}
{"category": ["biolink:Disease"], "description": "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.", "id": "MONDO:0010663", "name": "Intellectual disability-hypotonic facies syndrome, x-linked, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Carpenter-Waziri syndrome", "Chudley Lowry Hoar syndrome", "Chudley-Lowry syndrome", "Chudley-Lowry-Hoar syndrome", "Holmes-Gang syndrome", "MRXHF1", "SFMS", "Smith-Fineman-Myers syndrome", "X-linked intellectual disability-hypotonic face syndrome", "XLMR-hypotonic facies syndrome", "intellectual disability-hypotonic facies syndrome, X-linked, 1", "intellectual disability-hypotonic facies syndrome, X-linked, type 1", "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive", "mental retardation-hypotonic facies syndrome, X-linked, type 1"], "xref": ["DOID:0080982", "GARD:0003521", "MEDGEN:1676827", "MESH:C537445", "OMIM:309580", "Orphanet:73220", "Orphanet:93970", "Orphanet:93971", "Orphanet:93972", "Orphanet:93973", "Orphanet:93974", "SCTID:717763008", "SCTID:719212004", "UMLS:C4759781"]}
{"category": ["biolink:Disease"], "description": "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.", "id": "MONDO:0010664", "name": "Syndromic x-linked intellectual disability snyder type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SRS", "Snyder-Robinson Syndrome", "Snyder-Robinson intellectual disability syndrome", "Snyder-Robinson mental retardation syndrome", "Snyder-Robinson syndrome", "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive", "intellectual disability, X-linked, Snyder-Robinson type", "syndromic X-linked intellectual disability Snyder type"], "xref": ["DOID:0060802", "GARD:0005615", "ICD9:758.89", "MEDGEN:162918", "MESH:C536678", "NORD:1890", "OMIM:309583", "Orphanet:3063", "SCTID:702416008", "UMLS:C0796160"]}
{"category": ["biolink:Disease"], "description": "A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.", "id": "MONDO:0010665", "name": "Wilson-turner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRXS6", "WTS", "Wilson-Turner syndrome, X-linked recessive", "X-linked intellectual disability-gynecomastia-obesity syndrome", "intellectual disability, X-linked, syndromic 6", "intellectual disability, X-linked, with gynecomastia and obesity", "mental retardation, X-linked, syndromic 6", "mental retardation, X-linked, with gynecomastia and obesity"], "xref": ["DOID:0060814", "GARD:0005579", "MEDGEN:333393", "MESH:C536708", "OMIM:309585", "Orphanet:3459", "SCTID:719834005", "UMLS:C1839736", "icd11.foundation:2015561482"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.", "id": "MONDO:0010667", "name": "Prieto syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Prieto syndrome, X-linked recessive", "Prieto-Badia-Mulas syndrome", "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"], "xref": ["DOID:0060805", "GARD:0004482", "MEDGEN:374294", "MESH:C535274", "OMIM:309610", "Orphanet:2958", "SCTID:719140001", "UMLS:C1839730"]}
{"category": ["biolink:Disease"], "description": "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.", "id": "MONDO:0010668", "name": "Skeletal dysplasia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Christian syndrome", "mental retardation-skeletal dysplasia"], "xref": ["GARD:0003520", "MEDGEN:326949", "MESH:C564101", "OMIM:309620", "Orphanet:1436", "SCTID:722478008", "UMLS:C1839729"]}
{"category": ["biolink:Disease"], "description": "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.", "id": "MONDO:0010669", "name": "Syndactyly type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FGF16 non-syndromic syndactyly", "fusion of metacarpals 4 and 5", "metacarpal 4-5 fusion, X-linked recessive", "non-syndromic syndactyly caused by mutation in FGF16"], "xref": ["DOID:0111813", "GARD:0003559", "MEDGEN:333392", "MESH:C564100", "OMIM:309630", "Orphanet:2498", "SCTID:715442006", "UMLS:C1839728", "icd11.foundation:577712860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010670", "name": "X-linked intellectual disability-spastic quadriparesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:374293", "MESH:C564099", "OMIM:309640", "Orphanet:163982", "UMLS:C1839727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010671", "name": "Microphthalmia, syndromic 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ANOP1, formerly", "Lenz dysplasia", "Lenz microphthalmia syndrome", "MAA, formerly", "MCOPS1", "MCOPS4", "MCOPS4, formerly", "microphthalmia syndromic 4", "microphthalmia with ankyloblepharon and intellectual disability", "microphthalmia with ankyloblepharon and mental retardation", "microphthalmia, syndromic 1", "microphthalmia, syndromic 4, formerly", "microphthalmia, syndromic type 1", "syndromic microphthalmia type 4"], "xref": ["DOID:0111799", "GARD:0015304", "ICD9:759.89", "MEDGEN:162898", "MESH:C537464", "MESH:C564457", "OMIM:309800", "Orphanet:85275", "SCTID:438504004", "SCTID:717222003", "UMLS:C0796016"]}
{"category": ["biolink:Disease"], "description": "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.", "id": "MONDO:0010672", "name": "Linear skin defects with multiple congenital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS7", "MIDAS syndrome", "MLS syndrome", "linear skin defects with multiple congenital anomalies", "linear skin defects with multiple congenital anomalies type 1", "microphthalmia with linear skin defects syndrome", "microphthalmia-dermal aplasia-sclerocornea syndrome", "syndromic microphthalmia type 7"], "xref": ["DOID:0111875", "GARD:0003659", "MESH:C537466", "OMIMPS:309801", "Orphanet:2556", "SCTID:721879006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010673", "name": "Modifier, x-linked, for neurofunctional defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["modifier, X-linked, for Neurofunctional defects"], "xref": ["MEDGEN:326945", "MESH:C564098", "OMIM:309840", "UMLS:C1839708"]}
{"category": ["biolink:Disease"], "description": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.", "id": "MONDO:0010674", "name": "Mucopolysaccharidosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hunter syndrome", "Hunter's syndrome", "I2S deficiency", "IDS deficiency", "MPS 2", "MPS II", "MPS with skin involvement", "MPS2", "MPSII", "Mucopolysaccharidosis Type II", "SIDS deficiency", "attenuated MPS (subtype", "formerly known as mild MPS II)", "iduronate 2-sulfatase deficiency", "mucopolysaccharidosis II, X-linked recessive", "mucopolysaccharidosis type 2", "mucopolysaccharidosis type II", "mucopolysaccharidosis with skin involvement", "mucopolysaccharidosis, type 2", "mucopolysaccharidosis, type II", "severe MPS II", "sulfoiduronate sulfatase deficiency"], "xref": ["DOID:12799", "GARD:0006675", "ICD10CM:E76.1", "MEDGEN:7734", "MESH:D016532", "MedDRA:10056889", "NANDO:1200097", "NANDO:2200548", "NCIT:C61260", "NORD:1255", "OMIM:309900", "Orphanet:580", "Orphanet:79388", "SCTID:70737009", "UMLS:C0026705", "icd11.foundation:1056274204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010675", "name": "Muscular dystrophy, cardiac type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, cardiac type"], "xref": ["GARD:0024745", "MEDGEN:254845", "MESH:C563247", "OMIM:309930", "UMLS:C1442927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010676", "name": "Muscular dystrophy, hemizygous lethal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, Hemizygous lethal type"], "xref": ["GARD:0024746", "MEDGEN:326552", "MESH:C564097", "OMIM:309950", "UMLS:C1839671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010677", "name": "Muscular dystrophy, mabry type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, Mabry type"], "xref": ["GARD:0024747", "MEDGEN:326551", "MESH:C564096", "OMIM:310000", "UMLS:C1839670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010678", "name": "Muscular dystrophy, progressive pectorodorsal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["muscular dystrophy, progressive Pectorodorsal"], "xref": ["GARD:0024748", "MEDGEN:326550", "MESH:C564095", "OMIM:310095", "UMLS:C1839669"]}
{"category": ["biolink:Disease"], "description": "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.", "id": "MONDO:0010679", "name": "Duchenne muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMD", "Duchenne muscular dystrophy", "Duchenne muscular dystrophy, X-linked recessive", "severe dystrophinopathy, Duchenne type"], "xref": ["DOID:11723", "GARD:0006291", "MEDGEN:3925", "MESH:D020388", "MedDRA:10013801", "NANDO:1200488", "NANDO:2200856", "NCIT:C75482", "NORD:1065", "OMIM:310200", "Orphanet:98896", "SCTID:76670001", "UMLS:C0013264", "icd11.foundation:1479561744"]}
{"category": ["biolink:Disease"], "description": "X-linked form of Emery-Dreifuss muscular dystrophy.", "id": "MONDO:0010680", "name": "X-linked emery-dreifuss muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Emerinopathy", "Emery-Dreifuss muscular dystrophy, X-linked", "X-linked Emery-Dreifuss muscular dystrophy"], "xref": ["GARD:0002102", "MEDGEN:148284", "MESH:D000083143", "Orphanet:98863", "UMLS:C0751337", "icd11.foundation:516501338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010681", "name": "Myelolymphatic insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Myelolymphatic insufficiency"], "xref": ["MEDGEN:333371", "OMIM:310350", "UMLS:C1839650"]}
{"category": ["biolink:Disease"], "description": "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.", "id": "MONDO:0010683", "name": "X-linked myotubular myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTM", "X-linked centronuclear myopathy", "X-linked myotubular myopathy", "XLCNM", "XLMTM", "centronuclear myopathy, X-linked", "myotubular myopathy, X-linked, X-linked recessive"], "xref": ["DOID:0111225", "GARD:0011925", "ICD10CM:G71.220", "MEDGEN:98374", "NCIT:C118781", "OMIM:310400", "Orphanet:596", "SCTID:46804001", "UMLS:C0410203"]}
{"category": ["biolink:Disease"], "description": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.", "id": "MONDO:0010684", "name": "X-linked myopathy with excessive autophagy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XMEA", "myopathy, X-linked, with excessive autophagy, X-linked recessive", "vacuolar myopathy"], "xref": ["DOID:0050760", "GARD:0003892", "MEDGEN:374264", "MESH:C536522", "NANDO:1200223", "NORD:1866", "OMIM:310440", "Orphanet:25980", "SCTID:719815005", "UMLS:C1839615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010685", "name": "Myopia 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP1", "myopia 1, X-linked", "myopia-1, X-linked recessive"], "xref": ["MEDGEN:326540", "MESH:C564091", "OMIM:310460", "UMLS:C1839612"]}
{"category": ["biolink:Disease"], "description": "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.", "id": "MONDO:0010686", "name": "N syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["N syndrome", "NSX"], "xref": ["DOID:0050769", "GARD:0003902", "MEDGEN:424834", "MESH:C536108", "OMIM:310465", "Orphanet:2608", "SCTID:723410002", "UMLS:C2936859", "icd11.foundation:2040480507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010687", "name": "Nephrolithiasis, x-linked recessive, with renal failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephrolithiasis, X-linked recessive, with renal failure", "nephrolithiasis, type i, X-linked recessive"], "xref": ["DOID:0111798", "GARD:0015305", "MEDGEN:96047", "MESH:C562901", "OMIM:310468", "SCTID:236713006", "UMLS:C0403720"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.", "id": "MONDO:0010688", "name": "Hereditary sensory neuropathy x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070159", "GARD:0024749", "MEDGEN:333359", "MESH:C564090", "OMIM:310470", "UMLS:C1839602"]}
{"category": ["biolink:Disease"], "description": "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.", "id": "MONDO:0010689", "name": "Charcot-marie-tooth disease x-linked recessive 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4X", "CMTX 4", "CMTX4", "COWCK", "Charcot-Marie-Tooth disease X-linked recessive type 4", "Charcot-Marie-Tooth disease with deafness and intellectual disability", "Charcot-Marie-Tooth disease with deafness and mental retardation", "Charcot-Marie-Tooth disease, X-linked recessive, 4", "Cowchock syndrome, X-linked recessive", "NADMR", "NAMSD", "X-linked Charcot-Marie-Tooth disease type 4", "axonal motor sensory neuropathy with deafness and intellectual disability", "cowchock syndrome"], "xref": ["DOID:0110212", "GARD:0001240", "MEDGEN:162891", "OMIM:310490", "Orphanet:101078", "SCTID:763400005", "UMLS:C0795910"]}
{"category": ["biolink:Disease"], "description": "A congenital stationary night blindness caused by variants in the X-linked NYX gene.", "id": "MONDO:0010690", "name": "Congenital stationary night blindness 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSNB1A", "NYX congenital stationary night blindness", "NYX-related congenital stationary night blindness", "congenital stationary night blindness caused by mutation in NYX", "congenital stationary night blindness type 1A", "hemeralopia-myopia", "myopia-night blindness", "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive", "night blindness, congenital stationary, type 1A"], "xref": ["DOID:0110870", "GARD:0015306", "MEDGEN:501208", "OMIM:310500", "UMLS:C3495587"]}
{"category": ["biolink:Disease"], "description": "A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.", "id": "MONDO:0010691", "name": "Norrie disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Episkopi blindness", "Norrie disease", "Norrie disease, X-linked recessive", "Norrie-Warburg disease", "atrophia bulborum hereditaria"], "xref": ["DOID:0060844", "GARD:0007224", "ICD9:743.8", "MEDGEN:75615", "MESH:C537849", "MedDRA:10069760", "NCIT:C118634", "NORD:1514", "OMIM:310600", "Orphanet:649", "SCTID:15228007", "UMLS:C0266526", "icd11.foundation:676214590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010692", "name": "Nuclear ribonucleic acid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nuclear ribonucleic acid"], "xref": ["MEDGEN:374259", "OMIM:310650", "UMLS:C1839581"]}
{"category": ["biolink:Disease"], "description": "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.", "id": "MONDO:0010693", "name": "Nystagmus 1, congenital, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FRMD7 congenital nystagmus", "congenital nystagmus caused by mutation in FRMD7", "nystagmus 1, congenital, X-linked"], "xref": ["DOID:0111790", "GARD:0027796", "MEDGEN:333352", "MESH:C537853", "OMIM:310700", "UMLS:C1839580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010694", "name": "Nystagmus, myoclonic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nystagmus, myoclonic"], "xref": ["MEDGEN:326918", "MESH:C564088", "OMIM:310800", "UMLS:C1839579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010695", "name": "Occipital hair, white lock of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["occipital hair, white lock of"], "xref": ["MEDGEN:326917", "OMIM:310900", "UMLS:C1839578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010696", "name": "Omphalocele, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["omphalocele, X-linked"], "xref": ["GARD:0018587", "MEDGEN:477256", "OMIM:310980", "UMLS:C3275625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010697", "name": "Ophthalmoplegia, external, and myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OPEM", "ophthalmoplegia, external, and myopia"], "xref": ["MEDGEN:326916", "MESH:C564087", "OMIM:311000", "UMLS:C1839577"]}
{"category": ["biolink:Disease"], "description": "A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.", "id": "MONDO:0010698", "name": "Optic atrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPA2", "non-Leber type optic atrophy with early-onset", "optic atrophy 2", "optic atrophy 2, X-linked", "optic atrophy type 2"], "xref": ["DOID:0111443", "GARD:0010199", "MEDGEN:326915", "MESH:C537125", "OMIM:311050", "Orphanet:98890", "SCTID:721200000", "UMLS:C1839576"]}
{"category": ["biolink:Disease"], "description": "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.", "id": "MONDO:0010699", "name": "Charcot-marie-tooth disease x-linked recessive 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT5X", "CMTX5", "Charcot-Marie-Tooth disease X-linked recessive type 5", "Charcot-Marie-Tooth disease, X-linked recessive, 5", "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive", "Charcot-Marie-Tooth disease, X-linked recessive, type 5", "Charcot-Marie-Tooth neuropathy X type 5", "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5", "Rosenberg Chutorian Syndrome", "Rosenberg-Chutorian syndrome", "X-linked Charcot-Marie-Tooth disease type 5", "familial opticoacoustic nerve degeneration and polyneuropathy", "optic atrophy, polyneuropathy, and deafness", "optic atrophy, sensorineural hearing loss and polyneuropathy"], "xref": ["DOID:0110210", "GARD:0000114", "MEDGEN:374254", "NORD:1677", "OMIM:311070", "Orphanet:99014", "SCTID:763460007", "UMLS:C1839566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010700", "name": "Optic atrophy--spastic paraplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["optic atrophy--spastic paraplegia syndrome"], "xref": ["MEDGEN:326914", "MESH:C564084", "OMIM:311100", "UMLS:C1839565"]}
{"category": ["biolink:Disease"], "description": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.", "id": "MONDO:0010702", "name": "Orofaciodigital syndrome i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFD syndrome 1", "OFD1", "OFDI", "OFDS 1", "OFDSI", "Papillon-Leage and Psaume syndrome", "Papillon-Léage-Psaume syndrome", "Papillon-league-Psaume syndrome (formerly)", "oral facial digital syndrome 1", "oral facial digital syndrome type 1", "oral-facial-digital syndrome 1", "oral-facial-digital syndrome type 1", "oral-facial-digital syndrome, type 1", "orofaciodigital syndrome 1", "orofaciodigital syndrome I", "orofaciodigital syndrome i, X-linked dominant", "orofaciodigital syndrome type 1", "orofaciodigital syndrome type I"], "xref": ["DOID:0060316", "GARD:0004121", "MEDGEN:307142", "MESH:C537134", "NCIT:C75481", "OMIM:311200", "Orphanet:2750", "SCTID:763833006", "UMLS:C1510460"]}
{"category": ["biolink:Disease"], "description": "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.", "id": "MONDO:0010703", "name": "Ornithine carbamoyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCT deficiency", "OTC deficiency", "OTCD", "ornithine carbamoyltransferase deficiency", "ornithine carbamoyltransferase deficiency disease", "ornithine transcarbamylase deficiency"], "xref": ["DOID:9271", "EFO:0007409", "GARD:0008391", "MEDGEN:75692", "MESH:D020163", "MedDRA:10052450", "NANDO:1200804", "NANDO:2200479", "NCIT:C84957", "OMIM:311250", "Orphanet:664", "SCTID:80908008", "UMLS:C0268542", "icd11.foundation:1822444026"]}
{"category": ["biolink:Disease"], "description": "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.", "id": "MONDO:0010704", "name": "Otopalatodigital syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPD 1 syndrome", "OPD I syndrome", "OPD syndrome 1", "OPD1", "Taybi syndrome", "oto-palato-digital syndrome type 1", "otopalatodigital syndrome, type 1", "otopalatodigital syndrome, type I", "otopalatodigital syndrome, type I, X-linked dominant"], "xref": ["DOID:0111783", "GARD:0005121", "ICD9:759.89", "MEDGEN:78542", "NCIT:C118845", "OMIM:311300", "Orphanet:90650", "SCTID:54036001", "UMLS:C0265251", "icd11.foundation:1442049882"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.", "id": "MONDO:0010706", "name": "Premature ovarian failure 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FMR1 primary ovarian failure", "fragile x-associated primary ovarian insufficiency", "premature ovarian failure 1", "premature ovarian failure type 1", "primary ovarian failure caused by mutation in FMR1"], "xref": ["DOID:0080857", "GARD:0002811", "ICD9:256.39", "MEDGEN:1644269", "OMIM:311360", "Orphanet:642691", "UMLS:C4552079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010707", "name": "Paine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paine syndrome"], "xref": ["MEDGEN:234691", "MESH:C538101", "OMIM:311400", "UMLS:C1412041"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.", "id": "MONDO:0010708", "name": "Pallister-w syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Pallister-W syndrome", "W syndrome"], "xref": ["GARD:0000358", "MEDGEN:163215", "MESH:C538106", "OMIM:311450", "Orphanet:2804", "SCTID:719020006", "UMLS:C0796110"]}
{"category": ["biolink:Disease"], "description": "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.", "id": "MONDO:0010709", "name": "Early-onset parkinsonism-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Laxova-Opitz syndrome", "Waisman syndrome", "Waisman syndrome, X-linked recessive", "early-onset parkinsonism-intellectual disability syndrome"], "xref": ["DOID:0111781", "GARD:0003203", "MEDGEN:208674", "MESH:C537179", "OMIM:311510", "Orphanet:2379", "SCTID:716107009", "UMLS:C0796195", "icd11.foundation:937544163"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.", "id": "MONDO:0010710", "name": "Pierre robin syndrome-faciodigital anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chitayat-Meunier-Hodgkinson syndrome", "Pierre Robin sequence-faciodigital anomaly syndrome"], "xref": ["GARD:0001274", "MEDGEN:443969", "MESH:C535926", "OMIM:311895", "Orphanet:2888", "SCTID:723461007", "UMLS:C2931064"]}
{"category": ["biolink:Disease"], "description": "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.", "id": "MONDO:0010711", "name": "Tarp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pierre Robin sequence-congenital heart defect-talipes syndrome", "Pierre Robin syndrome-congenital heart defect-talipes syndrome", "TARP syndrome, X-linked recessive", "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome", "tarp syndrome"], "xref": ["DOID:0111780", "GARD:0010089", "MEDGEN:333324", "MESH:C536942", "OMIM:311900", "Orphanet:2886", "SCTID:725911008", "UMLS:C1839463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010712", "name": "Panhypopituitarism, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["panhypopituitarism, X-linked"], "xref": ["DOID:0111779", "GARD:0006737", "MEDGEN:87439", "MESH:C538613", "OMIM:312000", "SCTID:237683004", "UMLS:C0342376"]}
{"category": ["biolink:Disease"], "description": "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.", "id": "MONDO:0010713", "name": "Properdin deficiency, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["properdin deficiency, X-linked", "properdin deficiency, X-linked, X-linked recessive"], "xref": ["DOID:0111768", "GARD:0004513", "ICD9:279.8", "MEDGEN:333322", "MESH:C537241", "NANDO:2200789", "OMIM:312060", "Orphanet:2966", "SCTID:81166004", "UMLS:C1839454"]}
{"category": ["biolink:Disease"], "description": "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.", "id": "MONDO:0010714", "name": "Pelizaeus-merzbacher spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLD1", "PMD", "Pelizaeus-Merzbacher brain sclerosis", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher disease, X-linked recessive", "Pelizaeus-Merzbacher spectrum disorder", "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "diffuse familial brain sclerosis", "sudanophilic leukodystrophy, Paelizeus-Merzbacher type"], "xref": ["DECIPHER:38", "DOID:3210", "GARD:0004265", "MEDGEN:61440", "MESH:D020371", "MedDRA:10067610", "NANDO:1200576", "NANDO:2201288", "NCIT:C75487", "OMIM:312080", "Orphanet:702", "SCTID:64855000", "UMLS:C0205711", "icd11.foundation:1313582105"]}
{"category": ["biolink:Disease"], "description": "X-linked form of lethal multiple pterygium syndrome.", "id": "MONDO:0010716", "name": "X-linked lethal multiple pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lethal multiple pterygium syndrome, X-linked"], "xref": ["GARD:0004573", "MEDGEN:374225", "MESH:C564072", "OMIM:312150", "Orphanet:79447", "SCTID:763462004", "UMLS:C1839440"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.", "id": "MONDO:0010717", "name": "Pyruvate dehydrogenase e1-alpha deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PDHAD", "pyruvate dehydrogenase E1-alpha deficiency", "pyruvate dehydrogenase complex E1 component subunit alpha deficiency", "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant"], "xref": ["GARD:0004620", "ICD9:277.6", "MEDGEN:326486", "MESH:C564071", "OMIM:312170", "Orphanet:79243", "SCTID:124593001", "UMLS:C1839413"]}
{"category": ["biolink:Disease"], "description": "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0010718", "name": "Absent radius-anogenital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004633", "MEDGEN:333312", "MESH:C535281", "OMIM:312190", "Orphanet:3016", "UMLS:C1839410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010719", "name": "Radiation sensitivity of natural killer activity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["radiation sensitivity of natural killer activity"], "xref": ["MEDGEN:333311", "MESH:C564066", "OMIM:312210", "UMLS:C1839408"]}
{"category": ["biolink:Disease"], "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.", "id": "MONDO:0010720", "name": "Partial androgen insensitivity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAIS", "Reifenstein syndrome", "Reifenstein syndrome, partial", "androgen insensitivity, partial", "androgen insensitivity, partial, with or without breast cancer", "androgen insensitivity, partial, with or without breast cancer, X-linked recessive", "familial incomplete Male pseudohermaphroditism, type 1", "pais", "partial androgen resistance syndrome", "pseudohermaphroditism, incomplete male, type I"], "xref": ["DOID:0080776", "GARD:0005692", "GTR:AN0098649", "GTR:AN0098650", "GTR:AN0098651", "GTR:AN0098652", "GTR:AN0098654", "GTR:AN0098655", "ICD10CM:E34.52", "MEDGEN:82785", "MESH:C538435", "NCIT:C120192", "NORD:771", "OMIM:307300", "OMIM:312100", "OMIM:312300", "Orphanet:90797", "SCTID:122811000119101", "UMLS:C0268301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010721", "name": "Reticuloendotheliosis, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["reticuloendotheliosis, X-linked"], "xref": ["GARD:0007559", "MEDGEN:19757", "MESH:C538362", "OMIM:312500", "UMLS:C0035288"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010722", "name": "X-linked retinal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004680", "MEDGEN:909011", "OMIM:312550", "Orphanet:1852", "SCTID:715240000", "UMLS:C4275241"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.", "id": "MONDO:0010723", "name": "Retinitis pigmentosa 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP2", "RP2 retinitis pigmentosa", "retinitis pigmentosa 2", "retinitis pigmentosa caused by mutation in RP2", "retinitis pigmentosa type 2"], "xref": ["DOID:0110415", "GARD:0010380", "MEDGEN:394544", "MESH:C567523", "OMIM:312600", "UMLS:C2681923"]}
{"category": ["biolink:Disease"], "description": "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.", "id": "MONDO:0010725", "name": "X-linked retinoschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked juvenile retinoschisis", "X-linked juvenile retinoschisis type 1", "X-linked retinoschisis", "XLRS", "juvenile X-linked retinoschisis", "retinoschisis, X-linked", "retinoschisis, X-linked recessive"], "xref": ["DOID:0060763", "GARD:0004690", "MEDGEN:811458", "NANDO:1200938", "NCIT:C75483", "NORD:1864", "OMIM:312700", "Orphanet:792", "SCTID:86923008", "UMLS:C3714753", "icd11.foundation:2074506458"]}
{"category": ["biolink:Disease"], "description": "A severe neurodevelopmental disorder affecting the central nervous system.", "id": "MONDO:0010726", "name": "Rett syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RTS", "RTT", "Rett syndrome", "Rett syndrome, X-linked dominant", "Rett syndrome, atypical, X-linked dominant", "Rett syndrome, preserved speech variant, X-linked dominant", "Rett’s disease"], "xref": ["DOID:1206", "GARD:0005696", "ICD9:330.8", "MEDGEN:48441", "MESH:D015518", "MedDRA:10039000", "NANDO:1200603", "NANDO:1200604", "NANDO:2100219", "NANDO:2200825", "NCIT:C75488", "NORD:1666", "OMIM:312750", "Orphanet:778", "SCTID:68618008", "UMLS:C0035372", "icd11.foundation:201200685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010727", "name": "Russell-silver syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Russell-silver syndrome, X-linked"], "xref": ["GARD:0024750", "ICD9:758.81", "MEDGEN:67401", "OMIM:312780", "UMLS:C0220775"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.", "id": "MONDO:0010728", "name": "Scarf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCARF syndrome"], "xref": ["GARD:0000247", "MEDGEN:326461", "MESH:C536625", "OMIM:312830", "Orphanet:3134", "SCTID:734173003", "UMLS:C1839321", "icd11.foundation:1075253748"]}
{"category": ["biolink:Disease"], "description": "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.", "id": "MONDO:0010729", "name": "X-linked intellectual disability, schimke type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009288", "MEDGEN:374193", "MESH:C536630", "OMIM:312840", "Orphanet:85285", "SCTID:719010001", "UMLS:C1839320"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010730", "name": "Combined immunodeficiency, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined immunodeficiency, X-linked", "combined immunodeficiency, X-linked, moderate, X-linked recessive"], "xref": ["EFO:1001451", "GARD:0024751", "OMIM:312863"]}
{"category": ["biolink:Disease"], "description": "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.", "id": "MONDO:0010731", "name": "Simpson-golabi-behmel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DGSX", "Golabi-Rosen syndrome", "SDYS", "SGB syndrome", "SGBS", "Sara Angers syndrome", "Simpson-Golabi-Behmel syndrome", "X-linked dysplasia gigantism syndrome"], "xref": ["GARD:0007649", "ICD9:759.89", "MEDGEN:1387611", "MESH:C537340", "NANDO:2200978", "NCIT:C131002", "NORD:1717", "Orphanet:373", "SCTID:439143004", "UMLS:C4317043", "icd11.foundation:181316558"]}
{"category": ["biolink:Disease"], "description": "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.", "id": "MONDO:0010732", "name": "Spastic paraparesis-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wells-Jankovic syndrome"], "xref": ["DOID:0081100", "GARD:0005555", "MEDGEN:419037", "MESH:C536692", "OMIM:312910", "Orphanet:2815", "SCTID:715504003", "UMLS:C2931291"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.", "id": "MONDO:0010733", "name": "Hereditary spastic paraplegia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLP1 hereditary spastic paraplegia", "SPG2", "X-linked spastic paraplegia type 2", "hereditary spastic paraplegia caused by mutation in PLP1", "hereditary spastic paraplegia type 2", "spastic gait type 2", "spastic paraparesis type 2", "spastic paraplegia 2, X-linked, X-linked recessive", "spastic paraplegia type 2"], "xref": ["DOID:0110773", "GARD:0004923", "MEDGEN:199692", "OMIM:312920", "Orphanet:99015", "SCTID:723622007", "UMLS:C0751604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010734", "name": "Spatial visualization, aptitude for", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Turner syndrome-associated neurocognitive phenotype, X-linked recessive", "spatial visualization, aptitude for", "visuospatial/perceptual abilities, X-linked recessive"], "xref": ["MEDGEN:326850", "MESH:C564058", "OMIM:313000", "UMLS:C1839262"]}
{"category": ["biolink:Disease"], "description": "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.", "id": "MONDO:0010735", "name": "Kennedy disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kennedy disease", "Kennedy's disease", "SBMA", "SMAX1", "X-linked BSMA", "X-linked bulbospinal amyotrophy", "X-linked bulbospinal muscular atrophy", "X-linked spinal and bulbar muscular atrophy", "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive", "spinal and bulbar muscular atrophy, X-linked type 1"], "xref": ["DOID:0060161", "GARD:0006818", "MEDGEN:333282", "MESH:D055534", "MedDRA:10068600", "NANDO:1200001", "NCIT:C85233", "OMIM:313200", "Orphanet:481", "UMLS:C1839259"]}
{"category": ["biolink:Disease"], "description": "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.", "id": "MONDO:0010736", "name": "Split hand-foot malformation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFM2", "split hand-foot malformation type 2", "split hand/foot malformation 2"], "xref": ["DOID:0090027", "GARD:0015308", "MEDGEN:326848", "MESH:C564056", "OMIM:313350", "UMLS:C1839258"]}
{"category": ["biolink:Disease"], "description": "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.", "id": "MONDO:0010737", "name": "Spondyloepiphyseal dysplasia tarda, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia tarda, X-linked", "spondyloepiphyseal dysplasia tarda, X-linked recessive"], "xref": ["DOID:0080362", "GARD:0004985", "MEDGEN:762085", "OMIM:313400", "UMLS:C3541456", "icd11.foundation:219612045"]}
{"category": ["biolink:Disease"], "description": "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.", "id": "MONDO:0010738", "name": "Spondylometaphyseal dysplasia, golden type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked spondylometaphyseal dysplasia"], "xref": ["GARD:0008343", "MEDGEN:208672", "MESH:C563124", "OMIM:313420", "Orphanet:168544", "UMLS:C0796172", "icd11.foundation:840695879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010739", "name": "Taqi polymorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Taqi polymorphism"], "xref": ["MEDGEN:374172", "OMIM:313480", "UMLS:C1839238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010740", "name": "Taurodontism, microdontia, and dens invaginatus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["taurodontism, microdontia, and dens invaginatus"], "xref": ["MEDGEN:374171", "MESH:C536947", "OMIM:313490", "UMLS:C1839235"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.", "id": "MONDO:0010741", "name": "Tooth agenesis, selective, x-linked, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EDA tooth agenesis", "tooth agenesis caused by mutation in EDA", "tooth agenesis, selective, X-linked 1, X-linked dominant", "tooth agenesis, selective, X-linked, 1", "tooth agenesis, selective, X-linked, type 1"], "xref": ["GARD:0018246", "MEDGEN:410143", "MESH:C567060", "OMIM:313500", "UMLS:C1970757"]}
{"category": ["biolink:Disease"], "description": "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.", "id": "MONDO:0010742", "name": "Pentalogy of cantrell", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cantrell deformity", "Cantrell syndrome", "pentalogy of Cantrell", "thoraco-abdominal syndrome"], "xref": ["GARD:0007359", "ICD9:759.89", "MEDGEN:107540", "MESH:D058502", "NCIT:C99011", "NORD:1566", "OMIM:313850", "Orphanet:1335", "SCTID:281587000", "UMLS:C0559483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010743", "name": "Thrombocytopenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["X-linked thrombocytopenia with normal platelets", "thrombocytopenia 1", "thrombocytopenia type 1", "thrombocytopenia, X-linked, X-linked recessive", "thrombocytopenia, X-linked, intermittent, X-linked recessive"], "xref": ["GARD:0005176", "MEDGEN:326416", "MESH:C564052", "NCIT:C176617", "OMIM:313900", "Orphanet:852", "UMLS:C1839163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010744", "name": "Thrombocytopenia with elevated serum iga and renal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thrombocytopenia with elevated serum IgA and renal disease"], "xref": ["MEDGEN:374149", "MESH:C564051", "OMIM:314000", "UMLS:C1839162"]}
{"category": ["biolink:Disease"], "description": "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.", "id": "MONDO:0010745", "name": "Beta-thalassemia-x-linked thrombocytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked thrombocytopenia with Beta-thalassemia", "XLTT", "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive"], "xref": ["DOID:0111767", "GARD:0017166", "MEDGEN:326415", "MESH:C564050", "NCIT:C134941", "OMIM:314050", "Orphanet:231393", "SCTID:718196002", "UMLS:C1839161", "icd11.foundation:905057212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010746", "name": "Thumbs, congenital clasped", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thumbs, congenital Clasped"], "xref": ["MEDGEN:98140", "OMIM:314100", "UMLS:C0431886"]}
{"category": ["biolink:Disease"], "description": "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.", "id": "MONDO:0010747", "name": "X-linked dystonia-parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-TAF1", "DYT3", "Lubag", "Lubag syndrome", "X-linked dystonia Parkinsonism", "XDP", "dystonia-Parkinsonism, X-linked, X-linked recessive"], "xref": ["DOID:0090057", "GARD:0010533", "MEDGEN:326820", "MESH:C564048", "NANDO:1200514", "NCIT:C126330", "OMIM:314250", "Orphanet:53351", "SCTID:698279003", "UMLS:C1839130"]}
{"category": ["biolink:Disease"], "description": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.", "id": "MONDO:0010748", "name": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goeminne TKCR syndrome"], "xref": ["GARD:0005230", "MEDGEN:326819", "MESH:C536970", "OMIM:314300", "Orphanet:3341", "UMLS:C1839129"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.", "id": "MONDO:0010749", "name": "Trigonocephaly-short stature-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Say-Meyer syndrome"], "xref": ["GARD:0000243", "MEDGEN:374138", "MESH:C536620", "OMIM:314320", "Orphanet:3369", "SCTID:733066002", "UMLS:C1839125"]}
{"category": ["biolink:Disease"], "description": "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.", "id": "MONDO:0010750", "name": "Ulnar hypoplasia-split foot syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Van den Berghe-Dequecker syndrome", "ulnar hypoplasia-lobster-claw deformity of feet syndrome"], "xref": ["GARD:0005400", "MEDGEN:333256", "MESH:C536936", "OMIM:314360", "Orphanet:1122", "UMLS:C1839123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010751", "name": "Unique green phenomenon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["unique green phenomenon"], "xref": ["MEDGEN:326816", "OMIM:314380", "UMLS:C1839116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010752", "name": "Vacterl association, x-linked, with or without hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["VACTERL association, X-linked, X-linked recessive", "VACTERL association, X-linked, with or without hydrocephalus"], "xref": ["DOID:0111766", "GARD:0015309", "MEDGEN:419019", "OMIM:314390", "UMLS:C2931228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010753", "name": "Cardiac valvular dysplasia, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CVD1", "XMVD", "cardiac valvular dysplasia, X-linked", "congenital valvular dysplasia", "myxomatous valvular dystrophy, X-linked", "valvular heart disease, congenital"], "xref": ["DOID:0111765", "GARD:0001096", "MEDGEN:78083", "MESH:C535576", "OMIM:314400", "Orphanet:1864", "Orphanet:555877", "SCTID:718128009", "UMLS:C0262436"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.", "id": "MONDO:0010754", "name": "Van den bosch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["van den Bosch syndrome"], "xref": ["GARD:0005453", "MEDGEN:162920", "MESH:C563129", "OMIM:314500", "Orphanet:3417", "SCTID:733110004", "UMLS:C0796192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010755", "name": "Vesicoureteral reflux, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["vesicoureteral reflux, X-linked"], "xref": ["GARD:0024752", "MEDGEN:374134", "MESH:C564042", "OMIM:314550", "UMLS:C1839114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010756", "name": "Von willebrand disease, x-linked form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Von Willebrand disease, X-linked form"], "xref": ["GARD:0024753", "MEDGEN:333255", "MESH:C564041", "OMIM:314560", "UMLS:C1839113"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010757", "name": "Widow's peak syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["widow's peak syndrome"], "xref": ["MEDGEN:374133", "MESH:C564040", "OMIM:314570", "UMLS:C1839112"]}
{"category": ["biolink:Disease"], "description": "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.", "id": "MONDO:0010758", "name": "Wieacker-wolff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCS", "MRXS4", "Miles-CARPENTER X-linked mental retardation syndrome", "Miles-Carpenter syndrome", "WRWF", "WRWFXLR", "Wieacker Wolff syndrome", "Wieacker syndrome", "Wieacker-Wolff syndrome", "Wieacker-Wolff syndrome, X-linked", "Wieacker-Wolff syndrome, X-linked recessive", "X-linked intellectual disability, Miles-Carpenter type", "ZC4H2-Associated Rare Disorders (ZARD)", "apraxia, oculomotor, with congenital contractures and muscle atrophy", "contractures of feet, muscle atrophy, and oculomotor apraxia", "foot contractures-muscle atrophy-oculomotor apraxia syndrome", "intellectual disability-developmental delay-contractures syndrome", "mental retardation, X-linked, syndromic 4", "mental retardation, X-linked, with congenital contractures and Low fingertip arches", "mental retardation, X-linked, with congenital contractures and low fingertip arches"], "xref": ["DOID:0060815", "GARD:0007890", "MEDGEN:163227", "MESH:C536703", "MESH:C537472", "NORD:91159", "OMIM:314580", "Orphanet:3454", "Orphanet:85283", "SCTID:719012009", "SCTID:722456001", "UMLS:C0796200"]}
{"category": ["biolink:Disease"], "description": "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.", "id": "MONDO:0010759", "name": "Wildervanck syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cervicooculoacoustic syndrome", "Wildervanck syndrome"], "xref": ["GARD:0005569", "ICD9:759.89", "MEDGEN:120518", "MedDRA:10069402", "NORD:1853", "OMIM:314600", "Orphanet:3456", "SCTID:79665007", "UMLS:C0265239"]}
{"category": ["biolink:Disease"], "description": "Y-linked form of retinitis pigmentosa.", "id": "MONDO:0010761", "name": "Retinitis pigmentosa y-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RPY", "Y-linked retinitis pigmentosa", "retinitis pigmentosa, Y-linked", "retinitis pigmentosa, Y-linked, Y-linked"], "xref": ["DOID:0110418", "GARD:0015310", "MEDGEN:326805", "MESH:C564035", "OMIM:400004", "UMLS:C1839079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010762", "name": "Lymphoma, hodgkin, y-linked pseudoautosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphoma, Hodgkin, Y-linked pseudoautosomal"], "xref": ["GARD:0024754", "MEDGEN:333246", "MESH:C564034", "OMIM:400021", "UMLS:C1839076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010763", "name": "Spermatogenic failure, y-linked, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spermatogenic failure, Y-linked, 1", "spermatogenic failure, Y-linked, 1, Y-linked", "spermatogenic failure, Y-linked, type 1"], "xref": ["DOID:0070186", "GARD:0018503", "MEDGEN:1634798", "OMIM:400042", "UMLS:C4551960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010764", "name": "Hearing loss, y-linked 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNY1"], "xref": ["DOID:0111759", "GARD:0024755", "MEDGEN:854748", "OMIM:400043", "UMLS:C3888076"]}
{"category": ["biolink:Disease"], "description": "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.", "id": "MONDO:0010765", "name": "46,xy complete gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["46 XY gonadal dysgenesis", "46, XY CGD", "46, XY complete gonadal dysgenesis", "46, XY pure gonadal dysgenesis", "46,XY CGD", "46,XY SEX reversal", "46,XY gonadal dysgenesis", "46,XY pure gonadal dysgenesis", "Swyer syndrome"], "xref": ["DOID:14448", "GARD:0005068", "MEDGEN:445380", "MESH:D006061", "NCIT:C120198", "NORD:1750", "OMIMPS:400044", "Orphanet:242", "SCTID:95218005", "UMLS:C2936694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010767", "name": "Spermatogenic failure, y-linked, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spermatogenic failure, Y-linked, 2", "spermatogenic failure, Y-linked, 2, Y-linked", "spermatogenic failure, Y-linked, type 2"], "xref": ["DOID:0070187", "GARD:0018504", "MEDGEN:326394", "MESH:C564030", "OMIM:415000", "UMLS:C1839071"]}
{"category": ["biolink:Disease"], "description": "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.", "id": "MONDO:0010768", "name": "Gonadoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonad blastoma", "gonadoblastoma"], "xref": ["DOID:3301", "ICDO:9073/1", "MEDGEN:104912", "MESH:D018238", "NCIT:C3754", "ONCOTREE:OGBL", "UMLS:C0206661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010769", "name": "Hairy ears, y-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hairy ears, Y-linked", "hairy ears, Y-linked, Y-linked"], "xref": ["MEDGEN:374123", "MESH:C564029", "OMIM:425500", "UMLS:C1839070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010770", "name": "Ubiquitin-activating enzyme, y-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ubiquitin-activating enzyme, Y-linked"], "xref": ["MEDGEN:326389", "OMIM:489000", "UMLS:C1839046"]}
{"category": ["biolink:Disease"], "description": "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.", "id": "MONDO:0010771", "name": "Histiocytoid cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arachnocytosis of the myocardium", "Purkinje cell hamartoma", "congenital cardiomyopathy", "foamy myocardial transformation of infancy", "histiocytoid cardiomyopathy", "infantile cardiomyopathy with histiocytoid change", "infantile xanthomatous cardiomyopathy", "isolated Cardiac lipidosis", "myocardial hamartoma", "oncocytic cardiomyopathy"], "xref": ["DOID:0080198", "GARD:0009511", "MEDGEN:310844", "MESH:C535584", "NCIT:C45745", "OMIM:500000", "Orphanet:137675", "UMLS:C1708371", "icd11.foundation:1870618141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010772", "name": "Leber optic atrophy and dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Leber optic atrophy and dystonia"], "xref": ["DOID:0111755", "GARD:0015311", "MEDGEN:333240", "MESH:C536024", "OMIM:500001", "UMLS:C1839040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010773", "name": "Mitochondrial myopathy with diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial myopathy with diabetes", "mitochondrial myopathy, lipid type", "myopathy and diabetes mellitus"], "xref": ["GARD:0003881", "MEDGEN:333236", "MESH:C564026", "OMIM:500002", "Orphanet:2596", "UMLS:C1839028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010774", "name": "Striatonigral degeneration, infantile, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["striatonigral degeneration, infantile, mitochondrial"], "xref": ["GARD:0018315", "MEDGEN:374113", "MESH:C564025", "OMIM:500003", "UMLS:C1839022"]}
{"category": ["biolink:Disease"], "description": "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.", "id": "MONDO:0010775", "name": "Retinitis pigmentosa-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinitis pigmentosa-deafness syndrome"], "xref": ["DOID:0110829", "GARD:0004684", "MEDGEN:1830314", "OMIM:500004", "SCTID:57838006", "UMLS:C5779620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010776", "name": "Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial"], "xref": ["MEDGEN:333234", "MESH:C564024", "OMIM:500005", "UMLS:C1839021"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010777", "name": "Cardiomyopathy, infantile hypertrophic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111753", "MEDGEN:412660", "OMIM:500006", "UMLS:C2748884"]}
{"category": ["biolink:Disease"], "description": "A rare functional disorder characterized by recurrent, stereotypical episodes of severe nausea and vomiting separated by symptom-free intervals. Episodes are often accompanied by pallor, lethargy, and abdominal pain. The condition shows a strong association with migraine headaches and may have maternal inheritance patterns suggestive of mitochondrial involvement.", "id": "MONDO:0010778", "name": "Cyclic vomiting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cyclic vomiting syndrome"], "xref": ["MEDGEN:57509", "NANDO:2100258", "NANDO:2200919", "OMIM:500007", "UMLS:C0152164", "icd11.foundation:1434288855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010779", "name": "Mitochondrial non-syndromic sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111751", "GARD:0016792", "MEDGEN:463247", "OMIM:500008", "Orphanet:90641", "UMLS:C3151897"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010780", "name": "Mitochondrial myopathy with reversible cytochrome c oxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["benign COX deficiency", "infantile reversible cytochrome C oxidase deficiency myopathy", "mitochondrial myopathy with reversible COX deficiency", "mitochondrial myopathy with reversible complex IV deficiency", "reversible infantile cytochrome C oxidase deficiency", "reversible infantile respiratory chain deficiency"], "xref": ["GARD:0017227", "MEDGEN:463248", "OMIM:500009", "Orphanet:254864", "UMLS:C3151898", "icd11.foundation:723205095"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010781", "name": "Ataxia and polyneuropathy, adult-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111750", "GARD:0024756", "MEDGEN:374087", "MESH:C564020", "OMIM:500010", "UMLS:C1838916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010782", "name": "Myopathy, lactic acidosis, and sideroblastic anemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myopathy, lactic acidosis, and sideroblastic anaemia type 3", "myopathy, lactic acidosis, and sideroblastic anemia 3", "myopathy, lactic acidosis, and sideroblastic anemia type 3"], "xref": ["DOID:0111184", "GARD:0015312", "MEDGEN:903059", "OMIM:500011", "UMLS:C4225415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010784", "name": "Chloramphenicol toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chloramphenicol toxicity"], "xref": ["MEDGEN:545740", "OMIM:515000", "UMLS:C0274502"]}
{"category": ["biolink:Disease"], "description": "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.", "id": "MONDO:0010785", "name": "Maternally-inherited diabetes and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MIDD", "mitochondrial diabetes"], "xref": ["GARD:0027358", "ICD9:250.80", "MEDGEN:90979", "MESH:C536246", "NCIT:C131859", "OMIM:520000", "Orphanet:225", "SCTID:237619009", "UMLS:C0342289", "icd11.foundation:2133824111"]}
{"category": ["biolink:Disease"], "description": "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.", "id": "MONDO:0010786", "name": "Chronic diarrhea with villous atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016576", "MEDGEN:325129", "MESH:C564019", "OMIM:520100", "Orphanet:1670", "UMLS:C1838912"]}
{"category": ["biolink:Disease"], "description": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.", "id": "MONDO:0010787", "name": "Kearns-sayre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kearns Sayre Syndrome", "Kearns-Sayre syndrome"], "xref": ["DOID:12934", "GARD:0006817", "ICD10CM:H49.81", "MEDGEN:9618", "MESH:D007625", "MedDRA:10048804", "NANDO:1201064", "NANDO:2200529", "NCIT:C84798", "NORD:1323", "OMIM:530000", "Orphanet:480", "SCTID:25792000", "UMLS:C0022541", "icd11.foundation:399100745"]}
{"category": ["biolink:Disease"], "description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.", "id": "MONDO:0010788", "name": "Leber hereditary optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LHON", "Leber Hereditary optic atrophy", "Leber hereditary optic neuropathy", "Leber optic atrophy"], "xref": ["DOID:705", "GARD:0006870", "MEDGEN:182973", "MESH:D029242", "NANDO:1200178", "NANDO:1200940", "NCIT:C84808", "NORD:1352", "OMIM:535000", "Orphanet:104", "SCTID:58610003", "UMLS:C0917796", "icd11.foundation:1018428959"]}
{"category": ["biolink:Disease"], "description": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.", "id": "MONDO:0010789", "name": "Melas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MELAS syndrome", "mitochondrial encephalomyopathy, lactic acidosis and stroke", "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes", "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes"], "xref": ["DOID:3687", "GARD:0007009", "ICD10CM:E88.41", "ICD9:277.87", "MEDGEN:56485", "MESH:D017241", "MedDRA:10053872", "NANDO:1200176", "NANDO:2200525", "NCIT:C84885", "OMIM:540000", "Orphanet:550", "SCTID:39925003", "UMLS:C0162671"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.", "id": "MONDO:0010790", "name": "Merrf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fukuhara syndrome", "MERRF", "MERRF syndrome", "myoclonic epilepsy - ragged red fibres", "myoclonus epilepsy and ragged red fibres", "myoclonus epilepsy associated with ragged-red fibers", "myoclonus epilepsy associated with ragged-red fibres", "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)", "myoclonus with epilepsy and with ragged Red fibres", "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)"], "xref": ["DOID:310", "GARD:0007144", "ICD10CM:E88.42", "ICD9:277.87", "MEDGEN:56486", "MESH:D017243", "MedDRA:10069825", "NANDO:1200177", "NANDO:2200526", "NCIT:C84889", "NORD:1441", "OMIM:545000", "Orphanet:551", "SCTID:68448003", "UMLS:C0162672"]}
{"category": ["biolink:Disease"], "description": "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.", "id": "MONDO:0010791", "name": "Myoglobinuria, recurrent", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myoglobinuria, recurrent"], "xref": ["GARD:0003879", "MEDGEN:333201", "MESH:C564018", "OMIM:550500", "UMLS:C1838877"]}
{"category": ["biolink:Disease"], "description": "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.", "id": "MONDO:0010792", "name": "Lethal infantile mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LIMD", "LIMM", "lethal infantile mitochondrial disease"], "xref": ["GARD:0017226", "MEDGEN:374077", "MESH:C564017", "OMIM:551000", "Orphanet:254857", "SCTID:766251006", "UMLS:C1838876", "icd11.foundation:642272262"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010793", "name": "Nephropathy, chronic tubulointerstitial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nephropathy, chronic tubulointerstitial"], "xref": ["MEDGEN:333200", "MESH:C564016", "OMIM:551200", "UMLS:C1838875"]}
{"category": ["biolink:Disease"], "description": "A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.", "id": "MONDO:0010794", "name": "Narp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NARP syndrome", "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome", "neuropathy-ataxia-retinitis pigmentosa syndrome"], "xref": ["DOID:0111273", "GARD:0000262", "MEDGEN:231285", "MESH:C537396", "MedDRA:10062940", "OMIM:551500", "Orphanet:644", "UMLS:C1328349", "icd11.foundation:2089784682"]}
{"category": ["biolink:Disease"], "description": "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)", "id": "MONDO:0010795", "name": "Oncocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["oncocytic neoplasm", "oncocytic tumor", "oncocytic tumour", "oncocytoma, benign"], "xref": ["MEDGEN:237181", "NCIT:C7072", "OMIM:553000", "UMLS:C1378050"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010796", "name": "Parkinson disease, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Parkinson disease, mitochondrial"], "xref": ["MEDGEN:333199", "MESH:C564015", "OMIM:556500", "UMLS:C1838867"]}
{"category": ["biolink:Disease"], "description": "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.", "id": "MONDO:0010797", "name": "Pearson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pearson marrow-pancreas syndrome"], "xref": ["DOID:0060067", "GARD:0007343", "ICD9:277.87", "MEDGEN:87459", "MedDRA:10062941", "NCIT:C115326", "OMIM:557000", "Orphanet:699", "SCTID:237985009", "UMLS:C0342784", "icd11.foundation:452521132"]}
{"category": ["biolink:Disease"], "description": "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.", "id": "MONDO:0010798", "name": "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0004532", "MEDGEN:463309", "MESH:C564014", "OMIM:560000", "Orphanet:3390", "UMLS:C3151959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010799", "name": "Deafness, aminoglycoside-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["deafness, aminoglycoside-induced", "deafness, mitochondrial, modifier of, mitochondrial", "deafness, streptomycin-induced", "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure", "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure", "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure", "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure", "streptomycin ototoxicity"], "xref": ["DOID:0111734", "GARD:0018161", "MEDGEN:374074", "MESH:C564013", "OMIM:580000", "Orphanet:168609", "UMLS:C1838854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010800", "name": "Wolfram syndrome, mitochondrial form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Wolfram syndrome, mitochondrial form"], "xref": ["DOID:0080583", "GARD:0015313", "MEDGEN:325511", "MESH:C564012", "OMIM:598500", "UMLS:C1838782"]}
{"category": ["biolink:Disease"], "description": "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.", "id": "MONDO:0010801", "name": "Spondylocamptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004972", "MEDGEN:325510", "MESH:C535779", "OMIM:600000", "Orphanet:3180", "SCTID:716231009", "UMLS:C1838781"]}
{"category": ["biolink:Disease"], "description": "A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).", "id": "MONDO:0010802", "name": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Yorifuji-Okuno syndrome", "pancreatic hypoplasia-diabetes-congenital heart disease syndrome"], "xref": ["DOID:0111733", "GARD:0000347", "MEDGEN:444022", "MESH:C564011", "OMIM:600001", "Orphanet:2255", "SCTID:722206009", "UMLS:C2931296"]}
{"category": ["biolink:Disease"], "description": "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.", "id": "MONDO:0010803", "name": "Eiken syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Eiken syndrome"], "xref": ["DOID:0111732", "GARD:0016698", "MEDGEN:325097", "MESH:C564010", "OMIM:600002", "Orphanet:79106", "SCTID:720863002", "UMLS:C1838779", "icd11.foundation:467339994"]}
{"category": ["biolink:Disease"], "description": "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.", "id": "MONDO:0010805", "name": "Bladder exstrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["bladder exstrophy", "bladder exstrophy (disease)", "classic exstrophy of the bladder", "ectopia vesicae"], "xref": ["DOID:0080174", "GARD:0006398", "HP:0002836", "ICD9:753.5", "MEDGEN:2661", "MESH:D001746", "NCIT:C123207", "NORD:860", "Orphanet:93930", "SCTID:61758007", "UMLS:C0005689", "icd11.foundation:1927556258"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.", "id": "MONDO:0010806", "name": "Retinitis pigmentosa 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPF8 retinitis pigmentosa", "RP13", "retinitis pigmentosa 13", "retinitis pigmentosa caused by mutation in PRPF8", "retinitis pigmentosa type 13"], "xref": ["DOID:0110403", "GARD:0010388", "MEDGEN:325486", "MESH:C564008", "OMIM:600059", "UMLS:C1838702"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.", "id": "MONDO:0010807", "name": "Autosomal recessive nonsyndromic hearing loss 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110477", "GARD:0022582", "MEDGEN:325485", "MESH:C564007", "OMIM:600060", "UMLS:C1838701"]}
{"category": ["biolink:Disease"], "description": "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.", "id": "MONDO:0010808", "name": "Fatal familial insomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fatal familial insomnia"], "xref": ["DOID:0050433", "GARD:0006429", "ICD10CM:A81.83", "ICD9:046.72", "MEDGEN:104768", "MESH:D034062", "MedDRA:10072077", "NANDO:1200191", "NCIT:C84711", "NORD:1920", "OMIM:600072", "Orphanet:466", "SCTID:83157008", "UMLS:C0206042", "icd11.foundation:669154658"]}
{"category": ["biolink:Disease"], "description": "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).", "id": "MONDO:0010809", "name": "Familial chronic myelocytic leukemia-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060761", "GARD:0010141", "MEDGEN:325075", "MESH:C536093", "OMIM:600080", "UMLS:C1838670"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.", "id": "MONDO:0010810", "name": "Vitamin d hydroxylation-deficient rickets, type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CYP2R1 vitamin D-dependent rickets, type 1", "Vitam D hydroxylation-deficient rickets type 1b", "rickets due to defect in vitamin D 25-hydroxylation deficiency", "vitamin D 25-Hydroxylase deficiency", "vitamin D hydroxylation-deficient rickets type 1b", "vitamin D hydroxylation-deficient rickets, type 1B", "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1"], "xref": ["DOID:0080887", "GARD:0018415", "MEDGEN:374020", "MESH:C564005", "NCIT:C131074", "OMIM:600081", "UMLS:C1838657"]}
{"category": ["biolink:Disease"], "description": "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.", "id": "MONDO:0010811", "name": "Benign prostatic hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign hyperplasia of prostate", "benign hyperplasia of the prostate", "benign prostate hyperplasia", "benign prostatic Hypertrophy", "benign prostatic hyperplasia", "benign prostatic hyperplasia (disease)", "benign prostatic hyperplasia - BPH", "benign prostatic hypertrophy"], "xref": ["DOID:11132", "EFO:0000284", "HP:0008711", "ICD10CM:N40", "ICD9:600", "ICD9:600.0", "ICD9:600.20", "MEDGEN:312369", "MESH:D011470", "NCIT:C2897", "OMIM:600082", "SCTID:266569009", "UMLS:C1704272"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010812", "name": "Macrocytosis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["macrocytosis, familial"], "xref": ["MEDGEN:333150", "MESH:C564004", "OMIM:600084", "UMLS:C1838656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010813", "name": "Pancreatic beta cell agenesis with neonatal diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diabetes mellitus, insulin-dependent, neonatal", "pancreatic beta cell agenesis with neonatal diabetes mellitus"], "xref": ["MEDGEN:325072", "MESH:C538111", "OMIM:600089", "Orphanet:28455", "UMLS:C1838655"]}
{"category": ["biolink:Disease"], "description": "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.", "id": "MONDO:0010814", "name": "Chondrodysplasia-pseudohermaphroditism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nivelon-Nivelon-Mabille syndrome", "chondrodysplasia-disorder of sex development syndrome", "chondrodysplasia-pseudohermaphroditism syndrome"], "xref": ["DOID:0060644", "GARD:0016565", "MEDGEN:333149", "MESH:C536123", "OMIM:600092", "Orphanet:1422", "SCTID:720851007", "UMLS:C1838654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010815", "name": "Spondyloepiphyseal dysplasia tarda with characteristic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia tarda with characteristic facies"], "xref": ["DOID:0112289", "GARD:0024757", "MEDGEN:325071", "MESH:C564003", "OMIM:600093", "UMLS:C1838653"]}
{"category": ["biolink:Disease"], "description": "Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.", "id": "MONDO:0010816", "name": "Qazi markouizos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dysharmonic skeletal maturation - muscular fiber disproportion", "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome", "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome", "Qazi-Markouizos syndrome"], "xref": ["DOID:0050740", "GARD:0000371", "MEDGEN:443987", "MESH:C536259", "OMIM:600096", "Orphanet:3010", "SCTID:721887007", "UMLS:C2931142"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.", "id": "MONDO:0010817", "name": "Autosomal dominant nonsyndromic hearing loss 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0110558", "GARD:0018099", "MEDGEN:436997", "MESH:C567441", "OMIM:600101", "UMLS:C2677637"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.", "id": "MONDO:0010818", "name": "Retinitis pigmentosa 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRB1 retinitis pigmentosa", "RP12", "retinitis pigmentosa 12", "retinitis pigmentosa caused by mutation in CRB1", "retinitis pigmentosa type 12", "retinitis pigmentosa-12"], "xref": ["DOID:0110358", "GARD:0010376", "MEDGEN:374019", "MESH:C563999", "OMIM:600105", "UMLS:C1838647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010819", "name": "Stargardt disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Stargardt disease 3", "Stargardt disease type 3"], "xref": ["DOID:0061238", "GARD:0015314", "MEDGEN:333146", "MESH:C535805", "OMIM:600110", "UMLS:C1838644"]}
{"category": ["biolink:Disease"], "description": "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.", "id": "MONDO:0010820", "name": "Autosomal recessive juvenile parkinson disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PRKN young-onset Parkinson disease", "Parkinson disease, juvenile, type 2", "autosomal recessive juvenile Parkinson disease 2", "autosomal recessive juvenile Parkinson disease type 2", "young-onset Parkinson disease caused by mutation in PRKN"], "xref": ["DOID:0060368", "GARD:0009642", "MEDGEN:401500", "OMIM:600116", "UMLS:C1868675"]}
{"category": ["biolink:Disease"], "description": "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.", "id": "MONDO:0010821", "name": "Familial developmental dysphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Billard-Toutain-Maheut syndrome", "FOXP2-associated dysphasia"], "xref": ["GARD:0001823", "MEDGEN:374015", "MESH:C563997", "OMIM:600117", "Orphanet:1799", "SCTID:721220004", "UMLS:C1838630"]}
{"category": ["biolink:Disease"], "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.", "id": "MONDO:0010822", "name": "Warburg micro syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAB3GAP1 Warburg micro syndrome", "WARBM1", "Warburg micro syndrome 1", "Warburg micro syndrome caused by mutation in RAB3GAP1", "Warburg micro syndrome type 1"], "xref": ["DOID:0110716", "GARD:0024758", "MEDGEN:333142", "OMIM:600118", "UMLS:C1838625"]}
{"category": ["biolink:Disease"], "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.", "id": "MONDO:0010823", "name": "Rhizomelic chondrodysplasia punctata type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AGPS rhizomelic chondrodysplasia punctata", "RCDP3", "rhizomelic chondrodysplasia punctata caused by mutation in AGPS", "rhizomelic chondrodysplasia punctata type 3"], "xref": ["DOID:0110853", "GARD:0009682", "MEDGEN:374012", "MESH:C537608", "NANDO:1200772", "OMIM:600121", "Orphanet:309803", "UMLS:C1838612", "icd11.foundation:110878063"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.", "id": "MONDO:0010824", "name": "Disorder of sex development-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Verloes-Gillerot-Fryns syndrome", "pseudohermaphroditism-intellectual disability syndrome"], "xref": ["GARD:0004550", "MEDGEN:325469", "MESH:C535693", "OMIM:600122", "Orphanet:2983", "SCTID:719450007", "UMLS:C1838611"]}
{"category": ["biolink:Disease"], "description": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.", "id": "MONDO:0010825", "name": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Houlston-Ironton-Temple syndrome"], "xref": ["GARD:0002742", "MEDGEN:374010", "MESH:C563994", "OMIM:600123", "Orphanet:1352", "UMLS:C1838606"]}
{"category": ["biolink:Disease"], "description": "A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.", "id": "MONDO:0010826", "name": "Childhood absence epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["pyknolepsy"], "xref": ["DOID:0050708", "DOID:1825", "GARD:0016667", "MEDGEN:924120", "OMIMPS:600131", "Orphanet:64280", "SCTID:50866000", "UMLS:C4281785", "icd11.foundation:726403046"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.", "id": "MONDO:0010827", "name": "Retinitis pigmentosa 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP14", "TULP1 retinitis pigmentosa", "retinitis pigmentosa 14", "retinitis pigmentosa caused by mutation in TULP1", "retinitis pigmentosa type 14"], "xref": ["DOID:0110381", "GARD:0010385", "MEDGEN:325056", "OMIM:600132", "UMLS:C1838603"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.", "id": "MONDO:0010828", "name": "Retinitis pigmentosa 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPF31 retinitis pigmentosa", "RP11", "retinitis pigmentosa 11", "retinitis pigmentosa caused by mutation in PRPF31", "retinitis pigmentosa type 11"], "xref": ["DOID:0110408", "GARD:0010383", "MEDGEN:325055", "MESH:C563991", "OMIM:600138", "UMLS:C1838601"]}
{"category": ["biolink:Disease"], "description": "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.", "id": "MONDO:0010829", "name": "Carasil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CARASIL", "Maeda syndrome", "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"], "xref": ["DOID:0061228", "GARD:0010424", "MEDGEN:325051", "MESH:C563990", "NANDO:1200544", "NORD:888", "OMIM:600142", "Orphanet:199354", "SCTID:703219008", "UMLS:C1838577", "icd11.foundation:984450655"]}
{"category": ["biolink:Disease"], "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.", "id": "MONDO:0010830", "name": "Neuronal ceroid lipofuscinosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN8", "CLN8 neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 8", "neuronal ceroid lipofuscinosis 8", "neuronal ceroid lipofuscinosis caused by mutation in CLN8", "neuronal ceroid lipofuscinosis type 8"], "xref": ["DOID:0110723", "GARD:0017152", "MEDGEN:374004", "MESH:C537952", "OMIM:600143", "Orphanet:228354", "SCTID:703526007", "UMLS:C1838570"]}
{"category": ["biolink:Disease"], "description": "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.", "id": "MONDO:0010831", "name": "Familial caudal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rudd-Klimek syndrome", "caudal regression", "familial caudal dysgenesis"], "xref": ["GARD:0000215", "MEDGEN:418973", "NCIT:C99054", "OMIM:600145", "Orphanet:1768", "SCTID:722493007", "UMLS:C2931053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010832", "name": "Bardet-biedl syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS3", "Bardet-Biedl syndrome 3", "Bardet-Biedl syndrome type 3"], "xref": ["DOID:0110125", "GARD:0000822", "MEDGEN:347179", "MESH:C537911", "OMIM:600151", "UMLS:C1859564"]}
{"category": ["biolink:Disease"], "description": "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.", "id": "MONDO:0010835", "name": "Pterygium colli-intellectual disability-digital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["khalifa-Graham syndrome"], "xref": ["GARD:0004568", "MEDGEN:374001", "MESH:C535831", "OMIM:600159", "Orphanet:2988", "SCTID:719256004", "UMLS:C1838562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010836", "name": "Nanophthalmos 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NNO1", "nanophthalmos 1", "nanophthalmos-1"], "xref": ["GARD:0018625", "MEDGEN:325037", "MESH:C563983", "OMIM:600165", "UMLS:C1838502"]}
{"category": ["biolink:Disease"], "description": "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.", "id": "MONDO:0010837", "name": "Primary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["primary hyperparathyroidism", "primary hyperparathyroidism (disease)"], "xref": ["DOID:11202", "EFO:0008519", "HP:0008200", "ICD10CM:E21.0", "ICD9:252.01", "MEDGEN:66354", "MESH:D049950", "NCIT:C48280", "SCTID:36348003", "UMLS:C0221002", "icd11.foundation:817194045"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by the complete absence of gonadal tissue.", "id": "MONDO:0010838", "name": "Gonadal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonadal agenesis"], "xref": ["MEDGEN:181797", "NCIT:C27228", "OMIM:600171", "UMLS:C0949331"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.", "id": "MONDO:0010839", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant benign distal spinal muscular atrophy", "autosomal dominant congenital benign spinal muscular atrophy", "congenital benign spinal muscular atrophy with contractures", "congenital nonprogressive spinal muscular atrophy"], "xref": ["DOID:0111215", "GARD:0001474", "MEDGEN:373984", "MESH:C563981", "OMIM:600175", "Orphanet:1216", "SCTID:763067000", "UMLS:C1838492"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.", "id": "MONDO:0010840", "name": "Pachygyria-intellectual disability-epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kuzniecky syndrome"], "xref": ["GARD:0000409", "MEDGEN:333107", "MESH:C538091", "OMIM:600176", "Orphanet:2798", "SCTID:763861000", "UMLS:C1838491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010841", "name": "Waardenburg syndrome type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WS2B"], "xref": ["DOID:0110947", "GARD:0005522", "MEDGEN:373973", "MESH:C536465", "OMIM:600193", "UMLS:C1838447"]}
{"category": ["biolink:Disease"], "description": "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.", "id": "MONDO:0010842", "name": "Multiple cutaneous and mucosal venous malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VMCM", "cutaneous and mucosal venous malformation"], "xref": ["DOID:0050792", "GARD:0016600", "MEDGEN:325026", "MESH:C563977", "OMIM:600195", "Orphanet:2451", "SCTID:699301008", "UMLS:C1838437"]}
{"category": ["biolink:Disease"], "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.", "id": "MONDO:0010844", "name": "Epiphyseal dysplasia, multiple, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL9A2 multiple epiphyseal dysplasia (disease)", "epiphyseal dysplasia, multiple, 2", "epiphyseal dysplasia, multiple, type 2", "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2"], "xref": ["DOID:0070298", "GARD:0009791", "MEDGEN:333092", "MESH:C535502", "OMIM:600204", "UMLS:C1838429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010846", "name": "Exostoses, multiple, type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["EXT3", "exostoses, multiple, type III"], "xref": ["GARD:0002206", "MEDGEN:333090", "MESH:C563975", "OMIM:600209", "UMLS:C1838420"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.", "id": "MONDO:0010847", "name": "Spinocerebellar ataxia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA4"], "xref": ["DOID:0050957", "GARD:0009970", "MEDGEN:199815", "OMIM:600223", "Orphanet:98765", "SCTID:715755008", "UMLS:C0752122", "icd11.foundation:1686006145"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.", "id": "MONDO:0010848", "name": "Spinocerebellar ataxia type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA5", "spinocerebellar ataxia type 5"], "xref": ["DOID:0050882", "GARD:0004953", "MEDGEN:155705", "OMIM:600224", "Orphanet:98766", "SCTID:719302009", "UMLS:C0752123", "icd11.foundation:78905851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010849", "name": "Palmoplantar keratoderma, bothnian type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["palmoplantar keratoderma, Bothnian type"], "xref": ["DOID:0111707", "GARD:0001862", "MEDGEN:325011", "OMIM:600231", "Orphanet:2337", "UMLS:C1838359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010850", "name": "Tessier number 4 facial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["facial clefting, oblique, type 1"], "xref": ["DOID:0111706", "GARD:0016974", "MEDGEN:1642051", "OMIM:600251", "Orphanet:141258", "UMLS:C4703420", "icd11.foundation:1796306367"]}
{"category": ["biolink:Disease"], "description": "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.", "id": "MONDO:0010851", "name": "Lowry-maclean syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lowry-MacLean syndrome"], "xref": ["GARD:0003300", "MEDGEN:167095", "MESH:C537037", "OMIM:600252", "Orphanet:2409", "SCTID:721974000", "UMLS:C0796020", "icd11.foundation:698387769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010852", "name": "Chromosome 8q12.1-q21.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 8Q12.1-q21.2 deletion syndrome"], "xref": ["GARD:0010002", "MEDGEN:333071", "MESH:C536574", "OMIM:600257", "UMLS:C1838346"]}
{"category": ["biolink:Disease"], "description": "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.", "id": "MONDO:0010854", "name": "Toriello-lacassie-droste syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aplasia cutis congenita-epibulbar dermoids syndrome", "oculoectodermal syndrome", "oculoectodermal syndrome, somatic"], "xref": ["DOID:0111705", "GARD:0010366", "MEDGEN:333068", "MESH:C563969", "OMIM:600268", "Orphanet:3339", "SCTID:723554006", "UMLS:C1838329", "icd11.foundation:1983176633"]}
{"category": ["biolink:Disease"], "description": "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.", "id": "MONDO:0010855", "name": "Short tarsus-absence of lower eyelashes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lopes-Gorlin syndrome"], "xref": ["GARD:0000296", "MEDGEN:325001", "MESH:C537036", "OMIM:600269", "Orphanet:2832", "SCTID:721075001", "UMLS:C1838328"]}
{"category": ["biolink:Disease"], "description": "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).", "id": "MONDO:0010856", "name": "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"], "xref": ["GARD:0009481", "MEDGEN:325000", "MESH:C536328", "OMIM:600273", "Orphanet:88924", "SCTID:765331004", "UMLS:C1838327", "icd11.foundation:1781576728"]}
{"category": ["biolink:Disease"], "description": "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.", "id": "MONDO:0010857", "name": "Semantic dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dementia, frontotemporal", "dementia, frontotemporal, with or without parkinsonism", "semantic primary progressive aphasia", "semantic variant PPA"], "xref": ["DOID:0051060", "DOID:0081391", "GARD:0010792", "MEDGEN:83268", "NANDO:1200550", "OMIM:600274", "Orphanet:100069", "UMLS:C0338462"]}
{"category": ["biolink:Disease"], "description": "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.", "id": "MONDO:0010858", "name": "Macrocephaly-spastic paraplegia-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fryns macrocephaly"], "xref": ["GARD:0016598", "MEDGEN:373933", "MESH:C563963", "OMIM:600302", "Orphanet:2429", "SCTID:716108004", "UMLS:C1838281"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.", "id": "MONDO:0010860", "name": "Autosomal recessive nonsyndromic hearing loss 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 3"], "xref": ["DOID:0110488", "GARD:0022583", "MEDGEN:325373", "MESH:C563961", "OMIM:600316", "UMLS:C1838263"]}
{"category": ["biolink:Disease"], "description": "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.", "id": "MONDO:0010865", "name": "Pseudoaminopterin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASSA", "aminopterin syndrome-like sine aminopterin", "pseudoaminopterin syndrome"], "xref": ["GARD:0004544", "MEDGEN:163196", "MESH:C535823", "OMIM:600325", "Orphanet:221120", "SCTID:715867000", "UMLS:C0795939", "icd11.foundation:893045173"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.", "id": "MONDO:0010866", "name": "Infantile osteopetrosis with neuroaxonal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070343", "GARD:0010082", "MEDGEN:373924", "MESH:C536055", "OMIM:600329", "Orphanet:85179", "SCTID:724226009", "UMLS:C1838258", "icd11.foundation:1434293148"]}
{"category": ["biolink:Disease"], "description": "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.", "id": "MONDO:0010867", "name": "Parc syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PARC syndrome", "poikiloderma-alopecia-retrognathism-cleft palate syndrome"], "xref": ["GARD:0004223", "MEDGEN:373923", "MESH:C537174", "OMIM:600331", "Orphanet:2825", "UMLS:C1838256"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010868", "name": "Rippling muscle disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RMD1", "rippling muscle disease 1", "rippling muscle disease-1"], "xref": ["DOID:0070308", "GARD:0009165", "MEDGEN:324987", "OMIM:600332", "UMLS:C1838254"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010869", "name": "Motor neuron disease with dementia and ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["motor neuron disease with dementia and ophthalmoplegia"], "xref": ["GARD:0024759", "MEDGEN:324986", "MESH:C563954", "OMIM:600333", "UMLS:C1838253"]}
{"category": ["biolink:Disease"], "description": "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.", "id": "MONDO:0010870", "name": "Tibial muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Finnish tibial muscular dystrophy", "TMD", "Udd myopathy", "distal myopathy, Udd type", "distal titinopathy", "tardive tibial muscular dystrophy"], "xref": ["DOID:0111078", "GARD:0013154", "MEDGEN:333047", "OMIM:600334", "Orphanet:609", "SCTID:698846009", "UMLS:C1838244"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010871", "name": "Succinic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["succinic acidemia"], "xref": ["MEDGEN:373921", "MESH:C563952", "OMIM:600335", "Orphanet:936", "UMLS:C1838243"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010872", "name": "Parotid salivary glands, polycystic dysgenetic disease of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PDDP"], "xref": ["MEDGEN:764047", "OMIM:600343", "UMLS:C3551133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010873", "name": "Band heterotopia of brain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["band heterotopia of brain"], "xref": ["GARD:0002250", "MEDGEN:924885", "MESH:C563950", "OMIM:600348", "UMLS:C4284594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010874", "name": "Enteropathy, familial, with villous edema and immunoglobulin g2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["enteropathy, familial, with villous edema and immunoglobulin G2 deficiency"], "xref": ["MEDGEN:324980", "MESH:C563949", "OMIM:600351", "UMLS:C1838238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010875", "name": "Pachydermodactyly, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pachydermodactyly, familial"], "xref": ["MEDGEN:324974", "MESH:C563947", "OMIM:600356", "UMLS:C1838218"]}
{"category": ["biolink:Disease"], "description": "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.", "id": "MONDO:0010876", "name": "Recessive aplasia cutis congenita of limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000754", "MEDGEN:324970", "MESH:C536840", "OMIM:600360", "Orphanet:1115", "SCTID:723500009", "UMLS:C1838206"]}
{"category": ["biolink:Disease"], "description": "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.", "id": "MONDO:0010877", "name": "Charcot-marie-tooth disease type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease-pyramidal features syndrome", "HMSN 5", "hereditary motor and sensory neuropathy type 5"], "xref": ["DOID:0080067", "GARD:0009208", "MEDGEN:1648461", "OMIM:600361", "Orphanet:64751", "SCTID:76043009", "UMLS:C4721916"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.", "id": "MONDO:0010878", "name": "Hereditary spastic paraplegia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FSP3", "NIPA1 hereditary spastic paraplegia", "SPG6", "autosomal dominant spastic paraplegia type 6", "hereditary spastic paraplegia caused by mutation in NIPA1", "hereditary spastic paraplegia type 6"], "xref": ["DOID:0110811", "GARD:0004928", "MEDGEN:324965", "MESH:C536866", "OMIM:600363", "Orphanet:100988", "SCTID:732949006", "UMLS:C1838192"]}
{"category": ["biolink:Disease"], "description": "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.", "id": "MONDO:0010879", "name": "Codas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CODAS syndrome", "cerebrooculodentoauriculoskeletal syndrome"], "xref": ["DOID:0111274", "GARD:0001418", "MEDGEN:333031", "MESH:C536434", "NCIT:C126744", "OMIM:600373", "Orphanet:1458", "SCTID:717772000", "UMLS:C1838180"]}
{"category": ["biolink:Disease"], "description": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.", "id": "MONDO:0010880", "name": "Telangiectasia, hereditary hemorrhagic, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACVRL1 hereditary hemorrhagic telangiectasia", "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1", "telangiectasia, hereditary hemorrhagic, type 2"], "xref": ["GARD:0009901", "MEDGEN:324960", "OMIM:600376", "UMLS:C1838163"]}
{"category": ["biolink:Disease"], "description": "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.", "id": "MONDO:0010881", "name": "Mesomelia-synostoses syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["8q13 microdeletion syndrome", "Del(8)q(13)", "Verloes-David syndrome", "mesomelia-synostoses syndrome", "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type", "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type", "monosomy 8q13"], "xref": ["GARD:0004302", "MEDGEN:324959", "MESH:C537348", "OMIM:600383", "Orphanet:2496", "SCTID:724147004", "UMLS:C1838162"]}
{"category": ["biolink:Disease"], "description": "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.", "id": "MONDO:0010882", "name": "Aphalangy-syndactyly-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4"], "xref": ["GARD:0000748", "MEDGEN:324958", "MESH:C563942", "OMIM:600384", "Orphanet:1113", "UMLS:C1838161"]}
{"category": ["biolink:Disease"], "description": "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.", "id": "MONDO:0010883", "name": "Pectus excavatum-macrocephaly-dysplastic nails syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Zori-Stalker-Williams syndrome"], "xref": ["GARD:0000374", "MEDGEN:373902", "MESH:C536728", "OMIM:600399", "Orphanet:2835", "SCTID:763863002", "UMLS:C1838160"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010884", "name": "Muscular dystrophy, scapulohumeral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["muscular dystrophy, scapulohumeral"], "xref": ["GARD:0015317", "MEDGEN:98373", "MESH:C562932", "OMIM:600416", "SCTID:240074006", "UMLS:C0410192"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary vascular disease characterized by the presence of multiple angiokeratomas (small, dark red to purple skin lesions) and abnormal connections between arteries and veins (arteriovenous fistulas).", "id": "MONDO:0010885", "name": "Angiokeratoma corporis diffusum with arteriovenous fistulas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angiokeratoma corporis diffusum with arteriovenous fistulas"], "xref": ["MEDGEN:324953", "MESH:C563940", "OMIM:600419", "UMLS:C1838141"]}
{"category": ["biolink:Disease"], "description": "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.", "id": "MONDO:0010886", "name": "2q37 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2q37 microdeletion syndrome", "2q37 monosomy", "Albright hereditary osteodystrophy type 3", "Albright hereditary osteodystrophy-like syndrome", "BDMR", "Del(2)(q37)", "brachydactyly intellectual disability syndrome", "brachydactyly mental retardation syndrome", "brachydactyly-intellectual disability syndrome", "deletion 2q37", "deletion 2q37-qter", "monosomy 2q37-qter"], "xref": ["DECIPHER:44", "DOID:0111704", "GARD:0010202", "ICD9:758.39", "MEDGEN:419169", "MESH:C538317", "NCIT:C129021", "OMIM:600430", "Orphanet:1001", "SCTID:702357000", "UMLS:C2931817"]}
{"category": ["biolink:Disease"], "description": "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.", "id": "MONDO:0010887", "name": "Isolated anterior cervical hypertrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tsukahara-Kajii syndrome", "hairy throat syndrome"], "xref": ["GARD:0008438", "MEDGEN:325346", "MESH:C538390", "OMIM:600457", "Orphanet:3387", "SCTID:717963001", "UMLS:C1838123"]}
{"category": ["biolink:Disease"], "description": "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.", "id": "MONDO:0010888", "name": "Adenomyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenomyosis of the uterus", "adenomyosis of uterus", "endometriosis (disease) of myometrium", "endometriosis interna", "endometriosis of myometrium", "endometriosis of uterus", "endometriosis, myometrium", "myometrium endometriosis (disease)", "uterine adenomyosis", "uterine corpus adenomyosis", "uterus corpus adenomyosis"], "xref": ["DOID:288", "ICD10CM:N80.0", "ICD9:617.0", "MEDGEN:1805484", "MESH:D062788", "NCIT:C6996", "OMIM:600458", "SCTID:237115002", "UMLS:C5574708", "icd11.foundation:171294592"]}
{"category": ["biolink:Disease"], "description": "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).", "id": "MONDO:0010889", "name": "Arterial dissection-lentiginosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016577", "MEDGEN:325345", "MESH:C563937", "OMIM:600459", "Orphanet:1682", "UMLS:C1838122"]}
{"category": ["biolink:Disease"], "description": "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.", "id": "MONDO:0010890", "name": "Acrocardiofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACFS", "CCGE syndrome", "acrocardiofacial syndrome", "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome"], "xref": ["DOID:0070419", "GARD:0001167", "MEDGEN:324947", "MESH:C563936", "OMIM:600460", "Orphanet:2008", "UMLS:C1838121", "icd11.foundation:976844546"]}
{"category": ["biolink:Disease"], "description": "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.", "id": "MONDO:0010891", "name": "Lethal hemolytic anemia-genital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["water-West syndrome"], "xref": ["GARD:0002642", "MEDGEN:333019", "MESH:C563935", "OMIM:600461", "Orphanet:1046", "UMLS:C1838120"]}
{"category": ["biolink:Disease"], "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.", "id": "MONDO:0010894", "name": "Maturity-onset diabetes of the young type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HNF1A maturity-onset diabetes of the young (disease)", "HNF1A-associated monogenic diabetes", "MODY type 3", "MODY, type III", "MODY3", "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes", "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A", "maturity-onset diabetes of the young type 3"], "xref": ["DOID:0111102", "GARD:0010658", "MEDGEN:324942", "MESH:C563933", "NANDO:2201071", "NCIT:C129742", "OMIM:600496", "SCTID:609570008", "UMLS:C1838100"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).", "id": "MONDO:0010895", "name": "Abcd syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ABCD syndrome", "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness"], "xref": ["DOID:0050600", "MEDGEN:333014", "MESH:C535334", "OMIM:600501", "Orphanet:918", "UMLS:C1838099"]}
{"category": ["biolink:Disease"], "description": "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.", "id": "MONDO:0010896", "name": "Pigment dispersion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["glaucoma-related pigment dispersion syndrome", "pigment dispersion syndrome"], "xref": ["DOID:0060680", "GARD:0004356", "MEDGEN:220866", "MESH:C563184", "NCIT:C187288", "OMIM:600510", "Orphanet:26823", "SCTID:392133001", "UMLS:C1271398"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.", "id": "MONDO:0010897", "name": "Schizophrenia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD3", "schizophrenia 3"], "xref": ["DOID:0070079", "MEDGEN:324936", "OMIM:600511", "UMLS:C1838069"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.", "id": "MONDO:0010898", "name": "Autosomal dominant epilepsy with auditory features", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADEAF", "ADLTE", "ADPEAF", "Autosomal dominant epilepsy with auditory features", "adolescent/adult onset autosomal dominant epilepsy with auditory features", "autosomal dominant epilepsy with auditory features", "autosomal dominant lateral temporal lobe epilepsy", "autosomal dominant partial/lateral temporal epilepsy with auditory features", "partial epilepsy with auditory aura", "partial epilepsy with auditory features"], "xref": ["GARD:0002257", "MEDGEN:325326", "MESH:C537297", "Orphanet:101046", "UMLS:C1838062", "icd11.foundation:832717248"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.", "id": "MONDO:0010899", "name": "Autosomal dominant nocturnal frontal lobe epilepsy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy", "ENFL1", "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4", "autosomal dominant nocturnal frontal lobe epilepsy type 1", "epilepsy, nocturnal frontal lobe, type 1"], "xref": ["DOID:0060682", "GARD:0015319", "MEDGEN:324932", "MESH:C563930", "OMIM:600513", "UMLS:C1838049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010900", "name": "Intrauterine growth retardation with increased mitomycin c sensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intrauterine growth retardation with increased mitomycin c sensitivity"], "xref": ["GARD:0005593", "MEDGEN:419040", "MESH:C536744", "OMIM:600546", "UMLS:C2931307"]}
{"category": ["biolink:Disease"], "description": "HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.", "id": "MONDO:0010901", "name": "Hec syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HEC syndrome", "hydrocephalus-endocardial fibroelastosis-cataract syndrome"], "xref": ["GARD:0002620", "MEDGEN:331549", "MESH:C535855", "OMIM:600559", "Orphanet:2119", "SCTID:721015008", "UMLS:C1833607"]}
{"category": ["biolink:Disease"], "description": "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.", "id": "MONDO:0010902", "name": "Spondyloepiphyseal dysplasia, reardon type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016994", "MEDGEN:322238", "MESH:C563472", "OMIM:600561", "Orphanet:163662", "SCTID:718764004", "UMLS:C1833603", "icd11.foundation:1019322569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010903", "name": "Craniosynostosis, adelaide type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["craniosynostosis, Adelaide type"], "xref": ["GARD:0024760", "MEDGEN:371600", "MESH:C563471", "OMIM:600593", "UMLS:C1833578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010904", "name": "Setting-sun phenomenon, familial benign", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["setting-Sun phenomenon, familial benign"], "xref": ["MEDGEN:318913", "MESH:C563470", "OMIM:600598", "UMLS:C1833577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010905", "name": "Cone-rod dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD1", "CRD1", "cone-rod dystrophy 1", "cone-rod dystrophy type 1", "cone-rod retinal dystrophy-1"], "xref": ["DOID:0111009", "GARD:0010651", "MEDGEN:371596", "MESH:C563469", "OMIM:600624", "UMLS:C1833564"]}
{"category": ["biolink:Disease"], "description": "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.", "id": "MONDO:0010906", "name": "Orofacial cleft 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BMP4 orofacial cleft", "orofacial cleft 11", "orofacial cleft caused by mutation in BMP4", "orofacial cleft type 11"], "xref": ["DOID:0080404", "GARD:0018303", "MEDGEN:436944", "OMIM:600625", "UMLS:C2677434"]}
{"category": ["biolink:Disease"], "description": "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.", "id": "MONDO:0010907", "name": "Familial hypertryptophanemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial hypertryptophanemia"], "xref": ["DOID:0111703", "GARD:0002871", "MEDGEN:419177", "MESH:C538393", "OMIM:600627", "Orphanet:2224", "SCTID:721838005", "UMLS:C2931837"]}
{"category": ["biolink:Disease"], "description": "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.", "id": "MONDO:0010908", "name": "Loose anagen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111702", "GARD:0003287", "ICD9:704.8", "MEDGEN:98351", "MESH:D058247", "OMIM:600628", "Orphanet:168", "SCTID:238735005", "UMLS:C0406468", "icd11.foundation:547259783"]}
{"category": ["biolink:Disease"], "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.", "id": "MONDO:0010909", "name": "Uv-sensitive syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERCC6 UV-sensitive syndrome", "UV-sensitive syndrome 1", "UV-sensitive syndrome caused by mutation in ERCC6", "UV-sensitive syndrome type 1"], "xref": ["GARD:0015320", "MEDGEN:764087", "NCIT:C173106", "OMIM:600630", "UMLS:C3551173"]}
{"category": ["biolink:Disease"], "description": "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.", "id": "MONDO:0010910", "name": "Enuresis, nocturnal, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ENUR1", "enuresis, nocturnal, 1"], "xref": ["OMIM:600631"]}
{"category": ["biolink:Disease"], "description": "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.", "id": "MONDO:0010911", "name": "Prolactin-producing pituitary gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRL producing pituitary gland adenoma", "PRL-secreting pituitary adenoma", "PRLoma", "lactotrope adenoma", "lactotroph adenoma", "lactotroph cell adenoma", "pituitary gland prolactinoma", "pituitary lactotrophic adenoma", "pituitary prolactinoma", "prolactin producing adenoma of pituitary", "prolactin producing adenoma of pituitary gland", "prolactin producing adenoma of the pituitary", "prolactin producing adenoma of the pituitary gland", "prolactin producing pituitary adenoma", "prolactin producing pituitary gland adenoma", "prolactin secreting adenoma", "prolactin secreting adenoma of pituitary", "prolactin secreting adenoma of pituitary gland", "prolactin secreting adenoma of the pituitary", "prolactin secreting adenoma of the pituitary gland", "prolactin secreting pituitary adenoma", "prolactin secreting pituitary gland adenoma", "prolactin-producing pituitary gland adenoma", "prolactin-secreting pituitary adenoma", "prolactinoma", "prolactinoma of pituitary", "prolactinoma of pituitary gland", "prolactinoma of the pituitary", "prolactinoma of the pituitary gland"], "xref": ["DOID:5394", "EFO:1000496", "GARD:0004508", "ICDO:8271/0", "MEDGEN:10936", "MESH:D015175", "MedDRA:10036832", "NANDO:1200378", "NCIT:C3342", "OMIM:600634", "Orphanet:2965", "SCTID:134209002", "UMLS:C0033375"]}
{"category": ["biolink:Disease"], "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.", "id": "MONDO:0010912", "name": "Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TUBB3 congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in TUBB3", "fibrosis of extraocular muscles, congenital, 3A", "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"], "xref": ["DOID:0081017", "GARD:0015321", "MEDGEN:412638", "MESH:C567572", "OMIM:600638", "UMLS:C2748801"]}
{"category": ["biolink:Disease"], "description": "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.", "id": "MONDO:0010913", "name": "Caroli disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050876", "EFO:1001286", "GARD:0006002", "MEDGEN:57924", "MESH:D016767", "MedDRA:10013003", "NANDO:2200934", "NCIT:C84619", "NORD:896", "OMIM:600643", "Orphanet:53035", "SCTID:717232005", "UMLS:C0162510", "icd11.foundation:1757434239"]}
{"category": ["biolink:Disease"], "description": "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.", "id": "MONDO:0010914", "name": "Carnitine palmitoyl transferase ii deficiency, severe infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CPT II deficiency, infantile", "CPT2, hepatocardiomuscular form", "CPT2, severe infantile form", "CPTII, hepatocardiomuscular form", "CPTII, severe infantile form", "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form", "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form", "Carnitine palmitoyl transferase deficiency type 2, severe infantile form", "carnitine palmitoyl transferase II deficiency, severe infantile form"], "xref": ["GARD:0017150", "MEDGEN:322211", "MESH:C563462", "OMIM:600649", "Orphanet:228305", "UMLS:C1833511"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.", "id": "MONDO:0010915", "name": "Autosomal dominant nonsyndromic hearing loss 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110573", "GARD:0018100", "MEDGEN:322209", "MESH:C563460", "OMIM:600652", "UMLS:C1833503"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.", "id": "MONDO:0010916", "name": "Polycystic kidney disease 3 with or without polycystic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["APKD3", "Apkd3", "GANAB autosomal dominant polycystic kidney disease", "PKD3", "Pkd3", "autosomal dominant polycystic kidney disease caused by mutation in GANAB", "polycystic kidney disease 3 with or without polycystic liver disease", "polycystic kidney disease 3, autosomal dominant", "polycystic kidney disease type 3", "polycystic kidney disease, adult, type 3", "polycystic kidney disease, type 3"], "xref": ["DOID:0110860", "GARD:0018598", "MEDGEN:854672", "OMIM:600666", "UMLS:C3887964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010917", "name": "Chondrocalcinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CCAL1", "chondrocalcinosis 1"], "xref": ["GARD:0006048", "MEDGEN:331527", "MESH:C535938", "OMIM:600668", "UMLS:C1833499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010919", "name": "Varicella, severe recurrent", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["varicella, severe recurrent"], "xref": ["MEDGEN:322202", "MESH:C563458", "OMIM:600670", "UMLS:C1833487"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.", "id": "MONDO:0010920", "name": "Microtia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["M-A", "congenital microtias", "microtia, congenital", "microtia-anotia", "microtias, congenital"], "xref": ["GARD:0000431", "ICD10CM:Q17.2", "ICD9:744.23", "MEDGEN:322201", "MESH:C537772", "MESH:D065817", "MedDRA:10027555", "OMIM:600674", "Orphanet:83463", "SCTID:35045004", "UMLS:C1833486", "icd11.foundation:2005415414"]}
{"category": ["biolink:Disease"], "description": "A dermoid cyst that involves the nose.", "id": "MONDO:0010921", "name": "Nasal dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nasal dermoid sinus cyst"], "xref": ["GARD:0016970", "MEDGEN:371575", "MESH:C563455", "OMIM:600679", "Orphanet:141103", "UMLS:C1833473"]}
{"category": ["biolink:Disease"], "description": "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.", "id": "MONDO:0010922", "name": "Satoyoshi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Komuragaeri disease", "Satoyoshi syndrome"], "xref": ["GARD:0000160", "MEDGEN:318882", "MESH:C536616", "MedDRA:10070579", "OMIM:600705", "Orphanet:3130", "SCTID:763630007", "UMLS:C1833454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010923", "name": "Proximal myopathy with focal depletion of mitochondria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["proximal myopathy with focal depletion of mitochondria"], "xref": ["GARD:0017956", "MEDGEN:318881", "MESH:C563453", "OMIM:600706", "Orphanet:521305", "UMLS:C1833453"]}
{"category": ["biolink:Disease"], "description": "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.", "id": "MONDO:0010924", "name": "D-2-hydroxyglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["D-2-HGA", "D-2-hydroxyglutaric acidemia", "D-2-hydroxyglutaric aciduria type 1"], "xref": ["DOID:0050575", "GARD:0005661", "MEDGEN:322192", "OMIMPS:600721", "Orphanet:79315", "SCTID:237960000", "UMLS:C1833429", "icd11.foundation:1170122566"]}
{"category": ["biolink:Disease"], "description": "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.", "id": "MONDO:0010925", "name": "Velo-facial-skeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005469", "MEDGEN:322177", "MESH:C536536", "OMIM:600736", "Orphanet:3424", "SCTID:763616002", "UMLS:C1833380"]}
{"category": ["biolink:Disease"], "description": "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.", "id": "MONDO:0010926", "name": "Familial hypocalciuric hypercalcemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AP2S1 familial hypocalciuric hypercalcemia", "FHH type 3", "HHC3", "familial hypocalciuric hypercalcemia caused by mutation in AP2S1", "familial hypocalciuric hypercalcemia type 3", "hpocalciuric hypercalcemia, type III"], "xref": ["DOID:0060702", "GARD:0002878", "MEDGEN:322173", "MESH:C537147", "OMIM:600740", "Orphanet:101050", "UMLS:C1833372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010927", "name": "Orofacial cleft 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OFC3", "orofacial cleft 3"], "xref": ["DOID:0080397", "GARD:0024761", "MEDGEN:318860", "MESH:C563448", "OMIM:600757", "UMLS:C1833369"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010928", "name": "Dwarfism, familial, with muscle spasms", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dwarfism, familial, with muscle spasms"], "xref": ["MEDGEN:322168", "MESH:C563447", "OMIM:600771", "UMLS:C1833341"]}
{"category": ["biolink:Disease"], "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.", "id": "MONDO:0010929", "name": "Craniosynostosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERF craniosynostosis", "ERF-related craniosynostosis", "craniosynostosis 4", "craniosynostosis caused by mutation in ERF", "craniosynostosis type 4"], "xref": ["DOID:0061012", "GARD:0024762", "MEDGEN:813247", "OMIM:600775", "UMLS:C3806917"]}
{"category": ["biolink:Disease"], "description": "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.", "id": "MONDO:0010930", "name": "Anophthalmia plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fryns microphthalmia syndrome", "microphthalmia with facial clefting"], "xref": ["GARD:0000719", "MEDGEN:322166", "MESH:C537767", "OMIM:600776", "Orphanet:1104", "SCTID:720496006", "UMLS:C1833339"]}
{"category": ["biolink:Disease"], "description": "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.", "id": "MONDO:0010931", "name": "Vitamin d-dependent rickets, type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia", "vitamin D dependent rickets 2b", "vitamin D receptor signaling defect rickets", "vitamin D receptor signalling defect rickets", "vitamin D resistant rickets", "vitamin D-dependent rickets type II without alopecia"], "xref": ["DOID:0080885", "GARD:0018170", "MEDGEN:411667", "NANDO:1200779", "NCIT:C131076", "OMIM:600785", "SCTID:237895001", "UMLS:C2748783"]}
{"category": ["biolink:Disease"], "description": "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.", "id": "MONDO:0010932", "name": "Progressive bifocal chorioretinal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRAPB", "PBCRA", "progressive bifocal chorioretinal atrophy"], "xref": ["GARD:0010123", "MEDGEN:371537", "MESH:C535356", "OMIM:600790", "Orphanet:75373", "SCTID:719266007", "UMLS:C1833321", "icd11.foundation:1936121929"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.", "id": "MONDO:0010933", "name": "Autosomal recessive nonsyndromic hearing loss 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["enlarged vestibular aqueduct", "enlarged vestibular aqueduct, digenic"], "xref": ["DOID:0110498", "GARD:0022584", "MEDGEN:761234", "MESH:C566366", "OMIM:600791", "UMLS:C3538946"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.", "id": "MONDO:0010936", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHMP2B amyotrophic lateral sclerosis", "CHMP2B-related amyotrophic lateral sclerosis", "FTD3", "amyotrophic lateral sclerosis caused by mutation in CHMP2B", "amyotrophic lateral sclerosis, Chmp2B-related", "frontotemporal dementia, chromosome 3-linked"], "xref": ["DOID:0060208", "DOID:0111227", "GARD:0015322", "ICD9:331.19", "MEDGEN:318833", "MESH:C563708", "MESH:C579991", "OMIM:600795", "OMIM:614696", "SCTID:702393003", "UMLS:C1833296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010937", "name": "Isoproterenol-mediated vasodilatation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["isoproterenol-mediated vasodilatation"], "xref": ["MEDGEN:331475", "OMIM:600801", "UMLS:C1833276"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.", "id": "MONDO:0010938", "name": "T-b+ severe combined immunodeficiency due to jak3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID, autosomal recessive, T-negative/B-positive type", "T-B+ SCID due to JAK3 deficiency", "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency"], "xref": ["GARD:0016632", "MEDGEN:331474", "MESH:C563440", "OMIM:600802", "Orphanet:35078", "SCTID:718107000", "UMLS:C1833275"]}
{"category": ["biolink:Disease"], "description": "A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.", "id": "MONDO:0010939", "name": "Gallbladder disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABCB4 gene mutation-associated cholelithiasis", "GBD1", "LPAC", "cholelithiasis with ABCB4 gene mutation", "cholelithiasis, low phospholipid-associated", "gallbladder disease 1", "gallbladder disease type 1", "low phospholipid associated cholelithiasis"], "xref": ["GARD:0016683", "MEDGEN:760527", "MedDRA:10068936", "OMIM:600803", "Orphanet:69663", "SCTID:715577009", "UMLS:C2609268", "icd11.foundation:1261516421"]}
{"category": ["biolink:Disease"], "description": "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.", "id": "MONDO:0010941", "name": "Nocturnal enuresis, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:331473", "MESH:C563439", "OMIM:600808", "UMLS:C1833268"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010944", "name": "Mitochondrial import-stimulating factor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mitochondrial import-stimulating factor"], "xref": ["MEDGEN:331468", "OMIM:600851", "UMLS:C1833246"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.", "id": "MONDO:0010945", "name": "Retinitis pigmentosa 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CA4 retinitis pigmentosa", "RP17", "retinitis pigmentosa 17", "retinitis pigmentosa caused by mutation in CA4", "retinitis pigmentosa type 17"], "xref": ["DOID:0110404", "GARD:0010387", "MEDGEN:322153", "MESH:C563437", "OMIM:600852", "UMLS:C1833245"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.", "id": "MONDO:0010946", "name": "Hypertrophic cardiomyopathy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH6", "PRKAG2 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 6", "cardiomyopathy, hypertrophic 6", "hypertrophic cardiomyopathy 6", "hypertrophic cardiomyopathy caused by mutation in PRKAG2", "hypertrophic cardiomyopathy type 6"], "xref": ["DOID:0110312", "GARD:0024763", "MEDGEN:331466", "MESH:C563436", "OMIM:600858", "UMLS:C1833236"]}
{"category": ["biolink:Disease"], "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.", "id": "MONDO:0010947", "name": "Budd-chiari syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Budd-Chiari syndrome", "Budd-Chiari syndrome, somatic"], "xref": ["GARD:0005968", "ICD10CM:I82.0", "ICD9:453.0", "MEDGEN:163632", "MESH:D006502", "MedDRA:10006537", "NANDO:1200437", "OMIM:600880", "Orphanet:131", "SCTID:82385007", "UMLS:C0856761", "icd11.foundation:1300118676"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.", "id": "MONDO:0010948", "name": "Cataract 10 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYBA1 early-onset non-syndromic cataract", "CTRCT10", "early-onset non-syndromic cataract caused by mutation in CRYBA1"], "xref": ["DOID:0110258", "GARD:0024764", "MEDGEN:318817", "MESH:C563435", "OMIM:600881", "UMLS:C1833229"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.", "id": "MONDO:0010949", "name": "Charcot-marie-tooth disease type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2B", "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A", "Charcot-Marie-Tooth disease, type 2B", "HMSN2B", "RAB7A Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2B"], "xref": ["DOID:0110159", "GARD:0009192", "MEDGEN:371512", "MESH:C537989", "OMIM:600882", "Orphanet:99936", "SCTID:717008005", "UMLS:C1833219", "icd11.foundation:1425224652"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.", "id": "MONDO:0010951", "name": "Dilated cardiomyopathy 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cardiomyopathy, dilated 1B", "dilated cardiomyopathy type 1B"], "xref": ["DOID:0110443", "GARD:0015323", "MEDGEN:1814491", "OMIM:600884", "UMLS:C5700078"]}
{"category": ["biolink:Disease"], "description": "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.", "id": "MONDO:0010952", "name": "Hereditary hyperferritinemia with congenital cataracts", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHCS", "Hyperferritinemia Cataract Syndrome", "hereditary hyperferritinemia-cataract syndrome"], "xref": ["DOID:0111256", "GARD:0002806", "ICD9:289.89", "ICD9:366.44", "MEDGEN:318812", "MESH:C538137", "NORD:1264", "OMIM:600886", "Orphanet:163", "SCTID:702398007", "UMLS:C1833213"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", "id": "MONDO:0010953", "name": "Fanconi anemia complementation group e", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FACE", "FANCE", "FANCE Fanconi anaemia", "FANCE Fanconi anemia", "Fanconi Anemia, complementation group type E", "Fanconi anaemia caused by mutation in FANCE", "Fanconi anaemia complementation group type E", "Fanconi anemia caused by mutation in FANCE", "Fanconi anemia complementation group E", "Fanconi anemia complementation group type E", "face"], "xref": ["DOID:0111084", "GARD:0015324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010954", "name": "Wiskott-aldrich syndrome, autosomal dominant form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Wiskott-Aldrich syndrome, autosomal dominant form"], "xref": ["GARD:0015325", "MEDGEN:1783558", "MESH:C563431", "OMIM:600903", "UMLS:C5542398"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010955", "name": "Ectodermal dysplasia with intellectual disability and syndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectodermal dysplasia with intellectual disability and syndactyly", "ectodermal dysplasia with mental retardation and syndactyly"], "xref": ["MEDGEN:322135", "MESH:C538018", "OMIM:600906", "UMLS:C1833169"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010956", "name": "Enamel hypoplasia, cataracts, and aqueductal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["enamel hypoplasia, cataracts, and aqueductal stenosis"], "xref": ["GARD:0004801", "MEDGEN:371497", "MESH:C563430", "OMIM:600907", "UMLS:C1833163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010958", "name": "Cardiac arrhythmia, ankyrin-b-related", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ankyrin-B syndrome", "cardiac arrhythmia, ankyrin-b-related"], "xref": ["DOID:0111700", "DOID:0111701", "GARD:0013294", "MEDGEN:370181", "OMIM:600919", "SCTID:764457005", "UMLS:C1970119"]}
{"category": ["biolink:Disease"], "description": "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.", "id": "MONDO:0010959", "name": "Van den ende-gupta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marden-Walker-like syndrome", "VDEGS", "van den Ende-Gupta syndrome"], "xref": ["DOID:0111699", "GARD:0003382", "MEDGEN:322127", "MESH:C535909", "OMIM:600920", "Orphanet:2460", "SCTID:719845008", "UMLS:C1833136", "icd11.foundation:1740735985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010960", "name": "Protocadherin 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["protocadherin 3", "protocadherin type 3"], "xref": ["MEDGEN:371487", "OMIM:600931", "UMLS:C1833117"]}
{"category": ["biolink:Disease"], "description": "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.", "id": "MONDO:0010961", "name": "Obesity due to prohormone convertase i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PCI deficiency", "PCSK1 Deficiency"], "xref": ["DOID:0111698", "GARD:0016689", "MEDGEN:318777", "MESH:C563423", "NORD:109523", "OMIM:600955", "Orphanet:71528", "SCTID:722053001", "UMLS:C1833053"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.", "id": "MONDO:0010962", "name": "Diffuse nonepidermolytic palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["KRT1-related diffuse nonepidermolytic keratoderma", "NEPPK", "diffuse nonepidermolytic palmoplantar keratoderma", "diffuse palmoplantar keratoderma, Bothnian type", "non-epidermolytic palmoplantar keratoderma", "nonepidermolytic palmoplantar keratoderma", "palmoplantar keratoderma, nonepidermolytic"], "xref": ["DOID:0050428", "DOID:0070550", "GARD:0005186", "MEDGEN:371463", "OMIM:600962", "Orphanet:496", "Orphanet:530838", "SCTID:716105001", "UMLS:C1833030"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.", "id": "MONDO:0010963", "name": "Autosomal dominant nonsyndromic hearing loss 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110584", "GARD:0018101", "MEDGEN:331419", "MESH:C563421", "OMIM:600965", "UMLS:C1833021"]}
{"category": ["biolink:Disease"], "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.", "id": "MONDO:0010964", "name": "Epiphyseal dysplasia, multiple, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL9A3 multiple epiphyseal dysplasia (disease)", "epiphyseal dysplasia, multiple, 3", "epiphyseal dysplasia, multiple, 3, with or without myopathy", "epiphyseal dysplasia, multiple, type 3", "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3"], "xref": ["DOID:0070304", "GARD:0009792", "MEDGEN:322091", "MESH:C535503", "OMIM:600969", "UMLS:C1832998"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.", "id": "MONDO:0010965", "name": "Autosomal recessive nonsyndromic hearing loss 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 6"], "xref": ["DOID:0110512", "GARD:0022586", "MEDGEN:322088", "MESH:C563418", "OMIM:600971", "UMLS:C1832992"]}
{"category": ["biolink:Disease"], "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.", "id": "MONDO:0010966", "name": "Achondrogenesis type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["achondrogenesis Ib", "achondrogenesis type IB", "achondrogenesis, Parenti-Fraccaro type"], "xref": ["DOID:0080055", "GARD:0000460", "MEDGEN:78547", "OMIM:600972", "Orphanet:93298", "UMLS:C0265274"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.", "id": "MONDO:0010967", "name": "Autosomal recessive nonsyndromic hearing loss 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 7"], "xref": ["DOID:0110520", "GARD:0022587", "MEDGEN:322084", "MESH:C563417", "OMIM:600974", "UMLS:C1832978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010968", "name": "Glaucoma 3, primary infantile, b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC3B", "glaucoma 3, primary infantile, B"], "xref": ["GARD:0002490", "MEDGEN:331409", "MESH:C536824", "OMIM:600975", "UMLS:C1832977"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.", "id": "MONDO:0010969", "name": "Cone-rod dystrophy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD5", "PITPNM3 cone-rod dystrophy", "cone-rod dystrophy 5", "cone-rod dystrophy caused by mutation in PITPNM3", "cone-rod dystrophy type 5"], "xref": ["DOID:0111010", "GARD:0010655", "MEDGEN:322083", "MESH:C563415", "OMIM:600977", "UMLS:C1832976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010970", "name": "Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"], "xref": ["DOID:0111697", "GARD:0013480", "MEDGEN:318752", "MESH:C563414", "OMIM:600987", "UMLS:C1832950"]}
{"category": ["biolink:Disease"], "description": "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.", "id": "MONDO:0010971", "name": "Infundibulopelvic stenosis-multicystic kidney syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003005", "MEDGEN:318751", "MESH:C535528", "OMIM:600989", "Orphanet:1849", "SCTID:725905005", "UMLS:C1832949"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.", "id": "MONDO:0010972", "name": "Hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ferlini-Ragno-Calzolari syndrome", "Waaler-Aarskog syndrome"], "xref": ["GARD:0005518", "MEDGEN:764174", "MESH:C536461", "OMIM:600991", "Orphanet:2180", "SCTID:721229003", "UMLS:C3551260"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.", "id": "MONDO:0010973", "name": "Autosomal dominant nonsyndromic hearing loss 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110575", "GARD:0018102", "MEDGEN:331398", "MESH:C563410", "OMIM:600994", "UMLS:C1832932"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.", "id": "MONDO:0010974", "name": "Nephrotic syndrome, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS2 nephrotic syndrome", "nephrotic syndrome caused by mutation in NPHS2", "nephrotic syndrome, type 2"], "xref": ["DOID:0080379", "GARD:0015326", "MEDGEN:358380", "OMIM:600995", "UMLS:C1868672"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.", "id": "MONDO:0010976", "name": "Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS, autosomal recessive K14", "EBS-AR KRT14", "KRT14-related autosomal recessive EBS", "KRT14-related autosomal recessive epidermolysis bullosa simplex", "KRT14-related epidermolysis bullosa simplex", "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive", "epidermolysis bullosa simplex, autosomal recessive type 1"], "xref": ["GARD:0016778", "MEDGEN:811576", "MESH:C563408", "OMIM:601001", "Orphanet:89838", "UMLS:C3715082"]}
{"category": ["biolink:Disease"], "description": "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.", "id": "MONDO:0010977", "name": "Brody myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brody myopathy"], "xref": ["DOID:0050692", "GARD:0009158", "ICD9:359.89", "MEDGEN:371441", "MESH:C536607", "OMIM:601003", "Orphanet:53347", "SCTID:703530005", "UMLS:C1832918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010978", "name": "Portal vein, cavernous transformation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["portal vein, cavernous transformation of"], "xref": ["MEDGEN:331396", "MESH:C563407", "OMIM:601004", "UMLS:C1832917"]}
{"category": ["biolink:Disease"], "description": "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.", "id": "MONDO:0010979", "name": "Timothy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TIMOTHY syndrome", "TS", "Timothy syndrome", "long QT syndrome-syndactyly syndrome"], "xref": ["DOID:0060173", "GARD:0009294", "MEDGEN:331395", "MESH:C536962", "NCIT:C142894", "NORD:1772", "OMIM:601005", "Orphanet:65283", "UMLS:C1832916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010980", "name": "Midline malformations, multiple, with limb abnormalities and hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dincsoy-Salih-Patel syndrome", "midline malformations, multiple, with limb abnormalities and hypopituitarism"], "xref": ["MEDGEN:371431", "MESH:C536177", "OMIM:601016", "Orphanet:1678", "UMLS:C1832874"]}
{"category": ["biolink:Disease"], "description": "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.", "id": "MONDO:0010981", "name": "Absent tibia-polydactyly-arachnoid cyst syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Holmes-Collins syndrome"], "xref": ["GARD:0005210", "MEDGEN:318725", "MESH:C563403", "OMIM:601027", "Orphanet:3328", "SCTID:733068001", "UMLS:C1832859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010982", "name": "Ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin"], "xref": ["MEDGEN:318724", "MESH:C563402", "OMIM:601039", "UMLS:C1832858"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.", "id": "MONDO:0010983", "name": "Dystonia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT9", "dystonia 9", "dystonia type 9", "episodic choreoathetosis/spasticity"], "xref": ["DOID:0090044", "GARD:0016656", "MEDGEN:371427", "MESH:C563401", "NANDO:1200520", "OMIM:601042", "Orphanet:53583", "SCTID:715564000", "UMLS:C1832855"]}
{"category": ["biolink:Disease"], "description": "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.", "id": "MONDO:0010984", "name": "Usher syndrome type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1D", "Usher syndrome, type 1D/F digenic"], "xref": ["DOID:0110831", "GARD:0005438", "MEDGEN:322051", "OMIM:601067", "UMLS:C1832845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010985", "name": "Epilepsy, familial adult myoclonic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FAME1"], "xref": ["DOID:0111690", "GARD:0018082", "MEDGEN:371424", "MESH:C563399", "OMIM:601068", "UMLS:C1832841"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.", "id": "MONDO:0010986", "name": "Autosomal recessive nonsyndromic hearing loss 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 9"], "xref": ["DOID:0110535", "GARD:0022588", "MEDGEN:331376", "OMIM:601071", "UMLS:C1832828"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.", "id": "MONDO:0010987", "name": "Autosomal recessive nonsyndromic hearing loss 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 8"], "xref": ["DOID:0110527", "GARD:0022589", "MEDGEN:322046", "OMIM:601072", "UMLS:C1832827"]}
{"category": ["biolink:Disease"], "description": "Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.", "id": "MONDO:0010988", "name": "Aplasia cutis-myopia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gershoni-Baruch-Leibo syndrome", "aplasia cutis myopia"], "xref": ["GARD:0000756", "MEDGEN:331375", "MESH:C563394", "OMIM:601075", "Orphanet:1117", "SCTID:720499004", "UMLS:C1832826"]}
{"category": ["biolink:Disease"], "description": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.", "id": "MONDO:0010989", "name": "Mayer-rokitansky-küster-hauser syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MRKH syndrome type 2", "MURCS association", "Mayer-Rokitansky-Küster-Hauser syndrome type 2", "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome", "atypical MRKH syndrome"], "xref": ["DOID:0112179", "GARD:0005513", "MEDGEN:931237", "OMIM:601076", "Orphanet:2578", "SCTID:717705004", "UMLS:C4305568", "icd11.foundation:1521808255"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010991", "name": "Laterality defects, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["laterality defects, autosomal dominant"], "xref": ["GARD:0003198", "MEDGEN:322042", "MESH:C563391", "OMIM:601086", "UMLS:C1832813"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010992", "name": "Ayme-gripp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Ayme-Gripp syndrome"], "xref": ["DOID:0111688", "GARD:0024765", "MEDGEN:371416", "MESH:C563390", "OMIM:601088", "Orphanet:477668", "UMLS:C1832812"]}
{"category": ["biolink:Disease"], "description": "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.", "id": "MONDO:0010993", "name": "Harrod syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Harrod syndrome", "cranio-facio-digito-genital syndrome"], "xref": ["GARD:0002601", "MEDGEN:162895", "MESH:C535635", "OMIM:601095", "Orphanet:2115", "SCTID:716089008", "UMLS:C0795970"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.", "id": "MONDO:0010995", "name": "Charcot-marie-tooth disease type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1C", "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF", "Charcot-Marie-Tooth disease, type 1C", "HMSN1C", "LITAF Charcot-Marie-Tooth disease type 1"], "xref": ["DOID:0110151", "GARD:0001247", "MEDGEN:75728", "MESH:C537984", "OMIM:601098", "Orphanet:101083", "UMLS:C0270913", "icd11.foundation:1224517226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0010996", "name": "Hereditary hemorrhagic telangiectasia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0009902", "MEDGEN:371403", "MESH:C537140", "OMIM:601101", "UMLS:C1832774"]}
{"category": ["biolink:Disease"], "description": "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.", "id": "MONDO:0010997", "name": "Supranuclear palsy, progressive, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSP", "Richardson syndrome", "classic PSP syndrome", "classic progressive supranuclear palsy syndrome", "supranuclear palsy, progressive", "supranuclear palsy, progressive, 1", "supranuclear palsy, progressive, type 1"], "xref": ["GARD:0017182", "MEDGEN:1640811", "OMIM:601104", "Orphanet:240071", "UMLS:C4551863"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).", "id": "MONDO:0010998", "name": "Alg3-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG3-CDG", "ALG3-congenital disorder of glycosylation", "CDG syndrome type Id", "CDG-Id", "CDG1D", "CDGId", "carbohydrate deficient glycoprotein syndrome type Id", "congenital disorder of glycosylation type 1d", "congenital disorder of glycosylation type Id", "mannosyltransferase 6 deficiency"], "xref": ["DOID:0080556", "GARD:0009827", "MEDGEN:322026", "MESH:C535742", "NCIT:C126870", "OMIM:601110", "Orphanet:79321", "SCTID:720976009", "UMLS:C1832736"]}
{"category": ["biolink:Disease"], "description": "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.", "id": "MONDO:0010999", "name": "Fallot complex-intellectual disability-growth delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bindewald-Ulmer-Müller syndrome"], "xref": ["GARD:0000893", "MEDGEN:322025", "MESH:C536608", "OMIM:601127", "Orphanet:3304", "SCTID:723336008", "UMLS:C1832735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011000", "name": "Guanylate cyclase 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["guanylate cyclase 2E", "guanylate cyclase type 2E"], "xref": ["OMIM:601138"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.", "id": "MONDO:0011001", "name": "Brugada syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA1", "Brugada syndrome 1", "Brugada syndrome caused by mutation in SCN5A", "Brugada syndrome type 1", "SCN5A Brugada syndrome"], "xref": ["DOID:0110218", "GARD:0024766", "MEDGEN:1646402", "OMIM:601144", "UMLS:C4551804"]}
{"category": ["biolink:Disease"], "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.", "id": "MONDO:0011002", "name": "Neuropathy, hereditary motor and sensory, type 6a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, type 6A", "HMSN6A", "MFN2 hereditary motor and sensory neuropathy type 6", "hereditary motor and sensory neuropathy VIA", "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2", "neuropathy, hereditary motor and sensory, type VIA"], "xref": ["GARD:0018091", "OMIM:601152"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.", "id": "MONDO:0011003", "name": "Dilated cardiomyopathy 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDCD2", "CMD1E", "SCN5A familial isolated dilated cardiomyopathy", "cardiomyopathy dilated with conduction defect type 2", "cardiomyopathy, dilated, 1E", "cardiomyopathy, dilated, type 1E", "cardiomyopathy, dilated, with conduction defect 2", "cardiomyopathy, dilated, with conduction disorder and arrhythmia", "dilated cardiomyopathy type 1E", "familial isolated dilated cardiomyopathy caused by mutation in SCN5A"], "xref": ["DOID:0110433", "GARD:0005644", "MEDGEN:331341", "MESH:C563384", "OMIM:601154", "UMLS:C1832680"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.", "id": "MONDO:0011004", "name": "Lissencephaly type 3-metacarpal bone dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016763", "MEDGEN:371379", "MESH:C563383", "OMIM:601160", "Orphanet:86822", "SCTID:718720007", "UMLS:C1832678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011005", "name": "Trisomy 18-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trisomy 18-like syndrome"], "xref": ["MEDGEN:331340", "MESH:C563382", "OMIM:601161", "UMLS:C1832677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011006", "name": "Hereditary spastic paraplegia 9a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AD-SPG9A", "SPG9A", "hereditary spastic paraplegia type 9A"], "xref": ["DOID:0110824", "GARD:0009583", "MEDGEN:1800401", "MESH:C536868", "OMIM:601162", "Orphanet:447753", "UMLS:C5568978"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.", "id": "MONDO:0011007", "name": "Diaphragmatic defect-limb deficiency-skull defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["froster-Huch syndrome"], "xref": ["GARD:0002397", "MEDGEN:371377", "MESH:C563380", "OMIM:601163", "Orphanet:2141", "SCTID:721095007", "UMLS:C1832668"]}
{"category": ["biolink:Disease"], "description": "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.", "id": "MONDO:0011008", "name": "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McPherson-Clemens syndrome"], "xref": ["GARD:0003430", "MEDGEN:444135", "MESH:C538160", "OMIM:601165", "Orphanet:2001", "SCTID:719456001", "UMLS:C2931750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011009", "name": "Muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers"], "xref": ["MEDGEN:331338", "MESH:C563378", "OMIM:601170", "UMLS:C1832665"]}
{"category": ["biolink:Disease"], "description": "A syndromic microphthalmiae in which the cause of the disease is a mutation in the STRA6 gene. It is characterized by microphthalmia or anophthalmia, and variable features including including intellectual disability, pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration and congenital heart disease.", "id": "MONDO:0011010", "name": "Microphthalmia, syndromic 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS9", "Matthew Wood syndrome", "Matthew-Wood syndrome", "STRA6-related syndromic microphthalmia", "Spear syndrome", "anophthalmia-pulmonary hypoplasia syndrome", "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations", "microphthalmia syndromic 9", "pulmonary agenesis microphthalmi and diaphragmatic defect"], "xref": ["DOID:0050819", "DOID:0111807", "GARD:0000713", "MEDGEN:318679", "MESH:C537768", "OMIM:601186", "Orphanet:2470", "SCTID:722458000", "UMLS:C1832661"]}
{"category": ["biolink:Disease"], "description": "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.", "id": "MONDO:0011011", "name": "Skeletal dysplasia-epilepsy-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gurrieri-Sammito-Bellussi syndrome"], "xref": ["GARD:0000350", "MEDGEN:208660", "MESH:C537625", "OMIM:601187", "Orphanet:1858", "SCTID:715428003", "UMLS:C0796046"]}
{"category": ["biolink:Disease"], "description": "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.", "id": "MONDO:0011012", "name": "African iron overload", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["African iron overload", "Bantu siderosis"], "xref": ["DOID:0111033", "GARD:0008495", "MEDGEN:75649", "MESH:C537904", "NORD:740", "OMIM:601195", "Orphanet:139507", "SCTID:66576001", "UMLS:C0268063", "icd11.foundation:869212237"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.", "id": "MONDO:0011013", "name": "Autosomal dominant hypocalcemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CASR autosomal dominant hypocalcemia", "HYPOC1", "autosomal dominant hypocalcemia caused by mutation in CASR", "autosomal dominant hypocalcemia type 1", "hypocalcemia, autosomal dominant type 1", "hypocalcemia, autosomal dominant, with Bartter syndrome"], "xref": ["DOID:0090107", "GARD:0024767", "MEDGEN:811594", "OMIM:601198", "UMLS:C3715128"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.", "id": "MONDO:0011014", "name": "Pleuropulmonary blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood pulmonary blastoma", "paediatric pulmonary blastoma", "pediatric pulmonary blastoma", "pleuropulmonary blastoma", "pleuropulmonary blastoma (morphologic abnormality)", "pulmonary blastoma of childhood"], "xref": ["DOID:4769", "EFO:0009052", "GARD:0008757", "ICD9:162.9", "ICDO:8973/3", "MEDGEN:266105", "MESH:C537516", "NANDO:2200080", "NCIT:C5669", "OMIM:601200", "ONCOTREE:PPB", "Orphanet:64742", "SCTID:707670009", "UMLS:C1266144"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 17p13.", "id": "MONDO:0011015", "name": "Cataract 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT24", "cataract 24", "cataract type 24"], "xref": ["DOID:0110257", "GARD:0015327", "MEDGEN:371364", "MESH:C537774", "OMIM:601202", "UMLS:C1832609"]}
{"category": ["biolink:Disease"], "description": "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.", "id": "MONDO:0011017", "name": "Naxos disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KWWH type I", "NAXOS disease", "NXD", "Naxos disease", "keratoderma with woolly hair type I", "keratoderma with wooly hair type I", "keratosis palmoplantaris with arrythmogenic cardiomyopathy", "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy", "palmoplantar keratoderma with arrythmogenic cardiomyopathy"], "xref": ["DOID:0080551", "GARD:0009795", "MEDGEN:321991", "MESH:C538346", "OMIM:601214", "Orphanet:34217", "SCTID:715535009", "UMLS:C1832600", "icd11.foundation:633516876"]}
{"category": ["biolink:Disease"], "description": "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.", "id": "MONDO:0011018", "name": "Brachyolmia-amelogenesis imperfecta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DASS", "Verloes-Bourguignon syndrome", "dental anomalies and short stature", "platyspondyly with amelogenesis imperfecta", "platyspondyly-amelogenesis imperfecta syndrome", "tooth agenesis, selective, 6"], "xref": ["DOID:0090143", "GARD:0005478", "MEDGEN:318659", "OMIM:601216", "Orphanet:2899", "SCTID:716195006", "UMLS:C1832594"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.", "id": "MONDO:0011019", "name": "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Devriendt-Vandenberghe-Fryns syndrome"], "xref": ["GARD:0016553", "MEDGEN:321990", "MESH:C563370", "OMIM:601217", "Orphanet:1014", "SCTID:720981000", "UMLS:C1832593"]}
{"category": ["biolink:Disease"], "description": "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.", "id": "MONDO:0011020", "name": "Osteoporosis-oculocutaneous hypopigmentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hernández-Fragoso syndrome", "OOCHS"], "xref": ["GARD:0000404", "MEDGEN:331321", "MESH:C536062", "OMIM:601220", "Orphanet:2786", "SCTID:722113001", "UMLS:C1832592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011021", "name": "Neuronal intestinal dysplasia, type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NID B", "neuronal intestinal dysplasia, type B"], "xref": ["DOID:0080680", "GARD:0024768", "MEDGEN:318658", "OMIM:601223", "UMLS:C1832589"]}
{"category": ["biolink:Disease"], "description": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).", "id": "MONDO:0011022", "name": "Potocki-shaffer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["11p11.2 deletion", "Potocki-Shaffer syndrome", "proximal 11p deletion syndrome"], "xref": ["DECIPHER:34", "DOID:0111687", "GARD:0009762", "ICD9:758.39", "MEDGEN:318657", "MESH:C538356", "NCIT:C75456", "OMIM:601224", "Orphanet:52022", "SCTID:702346005", "UMLS:C1832588", "icd11.foundation:1587521558"]}
{"category": ["biolink:Disease"], "description": "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.", "id": "MONDO:0011023", "name": "Hereditary mixed polyposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HMPS", "hereditary mixed polyposis syndrome"], "xref": ["DOID:0111684", "GARD:0016981", "MEDGEN:1672870", "MESH:C563365", "OMIMPS:601228", "Orphanet:157794", "UMLS:C5192681", "icd11.foundation:219068911"]}
{"category": ["biolink:Disease"], "description": "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.", "id": "MONDO:0011024", "name": "Dermatitis herpetiformis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dermatitis herpetiformis, familial", "hereditary dermatitis herpetiformis"], "xref": ["GARD:0001917", "MEDGEN:371361", "MESH:C538218", "OMIM:601230", "UMLS:C1832586"]}
{"category": ["biolink:Disease"], "description": "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.", "id": "MONDO:0011025", "name": "Cayman type cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cayman ataxia", "Cayman type cerebellar ataxia", "ataxia, cerebellar, Cayman type"], "xref": ["DOID:0060694", "GARD:0016836", "MEDGEN:331319", "MESH:C563363", "OMIM:601238", "Orphanet:94122", "SCTID:717332007", "UMLS:C1832585"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.", "id": "MONDO:0011026", "name": "Autosomal recessive congenital ichthyosis 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCI4A", "ICR2B", "autosomal recessive congenital ichthyosis type 4A", "ichthyosis, congenital, autosomal recessive type 4A"], "xref": ["DOID:0060712", "GARD:0009733", "MEDGEN:371355", "MESH:C537264", "OMIM:601277", "UMLS:C1832550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011027", "name": "Diabetes mellitus, noninsulin-dependent, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["diabetes mellitus, noninsulin-dependent 1", "diabetes mellitus, noninsulin-dependent, 1", "diabetes mellitus, noninsulin-dependent, type 1"], "xref": ["GARD:0024769", "MEDGEN:321979", "MESH:C563359", "OMIM:601283", "UMLS:C1832544"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.", "id": "MONDO:0011028", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2f", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2F", "SGCD autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD", "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 6"], "xref": ["DOID:0110280", "GARD:0008573", "MEDGEN:331308", "MESH:C535896", "OMIM:601287", "Orphanet:219", "SCTID:718177001", "UMLS:C1832525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011029", "name": "Myeloid tumor suppressor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myeloid tumor suppressor"], "xref": ["MEDGEN:318644", "OMIM:601308", "UMLS:C1832510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011030", "name": "Epithelial basolateral chloride conductance regulator, rabbit, homolog of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epithelial basolateral chloride conductance regulator, rabbit, homolog of"], "xref": ["MEDGEN:321967", "OMIM:601315", "UMLS:C1832477"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.", "id": "MONDO:0011031", "name": "Autosomal dominant nonsyndromic hearing loss 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal dominant nonsyndromic hearing loss 10"], "xref": ["DOID:0110542", "GARD:0018103", "MEDGEN:321966", "MESH:C563354", "OMIM:601316", "UMLS:C1832476"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.", "id": "MONDO:0011032", "name": "Autosomal dominant nonsyndromic hearing loss 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110543", "GARD:0018104", "MEDGEN:331297", "MESH:C563353", "OMIM:601317", "UMLS:C1832475"]}
{"category": ["biolink:Disease"], "description": "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.", "id": "MONDO:0011034", "name": "Odontomicronychial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["odontomicronychial dysplasia"], "xref": ["GARD:0004053", "MEDGEN:371336", "MESH:C537741", "OMIM:601319", "Orphanet:1811", "UMLS:C1832473"]}
{"category": ["biolink:Disease"], "description": "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).", "id": "MONDO:0011035", "name": "Neurofibromatosis-noonan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["NFNS", "neurofibromatosis type 1-Noonan syndrome", "neurofibromatosis-Noonan syndrome"], "xref": ["DOID:0111683", "GARD:0000372", "MEDGEN:419089", "MESH:C537393", "OMIM:601321", "Orphanet:638", "SCTID:715344006", "UMLS:C2931482", "icd11.foundation:679913930"]}
{"category": ["biolink:Disease"], "description": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.", "id": "MONDO:0011036", "name": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Bonnemann-Meinecke syndrome"], "xref": ["GARD:0004437", "MEDGEN:331296", "MESH:C536336", "OMIM:601322", "Orphanet:2941", "SCTID:763821001", "UMLS:C1832472"]}
{"category": ["biolink:Disease"], "description": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.", "id": "MONDO:0011038", "name": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAPOS syndrome"], "xref": ["GARD:0001188", "MEDGEN:318633", "MESH:C535351", "NANDO:1200526", "OMIM:601338", "Orphanet:1171", "SCTID:720634003", "UMLS:C1832466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011039", "name": "Atrophia maculosa varioliformis cutis, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atrophia maculosa varioliformis cutis, familial"], "xref": ["MEDGEN:371334", "MESH:C563349", "OMIM:601341", "UMLS:C1832465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011040", "name": "Spinal dysplasia, anhalt type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spinal dysplasia, Anhalt type"], "xref": ["MEDGEN:318632", "MESH:C563348", "OMIM:601344", "UMLS:C1832464"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.", "id": "MONDO:0011041", "name": "Ectodermal dysplasia with natal teeth, turnpenny type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia with natal teeth, Turnpenny type"], "xref": ["GARD:0010526", "MEDGEN:371331", "MESH:C563347", "OMIM:601345", "Orphanet:69083", "SCTID:715576000", "UMLS:C1832444", "icd11.foundation:612149960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011042", "name": "Martinez-frias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Martinez-Frias syndrome"], "xref": ["MEDGEN:318628", "MESH:C563346", "OMIM:601346", "Orphanet:137862", "UMLS:C1832443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011043", "name": "Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay"], "xref": ["MEDGEN:318627", "MESH:C563345", "OMIM:601347", "UMLS:C1832442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011044", "name": "Ectrodactyly of lower limbs, congenital heart defect, and micrognathia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectrodactyly of lower limbs, congenital heart defect, and micrognathia"], "xref": ["MEDGEN:318626", "MESH:C563344", "OMIM:601348", "UMLS:C1832441"]}
{"category": ["biolink:Disease"], "description": "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.", "id": "MONDO:0011045", "name": "Mmep syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS8", "Viljoen-Smart syndrome", "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome", "syndromic microphthalmia type 8"], "xref": ["DOID:0111803", "GARD:0003693", "MEDGEN:330469", "MESH:C537686", "OMIM:601349", "Orphanet:3434", "SCTID:715533002", "UMLS:C1832440"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.", "id": "MONDO:0011046", "name": "Short stature, brussels type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mievis-Verellen-Dumoulin syndrome"], "xref": ["GARD:0004838", "MEDGEN:318625", "MESH:C537121", "OMIM:601350", "Orphanet:2867", "SCTID:719213009", "UMLS:C1832439", "icd11.foundation:251068104"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).", "id": "MONDO:0011047", "name": "Deafness-epiphyseal dysplasia-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chitty-Hall-Baraitser syndrome"], "xref": ["GARD:0001688", "MEDGEN:371330", "MESH:C535928", "OMIM:601351", "Orphanet:3218", "SCTID:716238003", "UMLS:C1832438"]}
{"category": ["biolink:Disease"], "description": "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.", "id": "MONDO:0011048", "name": "Epilepsy-microcephaly-skeletal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Battaglia-Neri syndrome"], "xref": ["GARD:0000836", "MEDGEN:330468", "OMIM:601352", "Orphanet:1948", "UMLS:C1832437"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.", "id": "MONDO:0011049", "name": "Fine-lubinsky syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachycephaly-deafness-cataract-intellectual disability syndrome", "fine-Lubinsky syndrome"], "xref": ["GARD:0000958", "MEDGEN:163198", "MESH:C537933", "OMIM:601353", "Orphanet:1272", "SCTID:720955004", "UMLS:C0795941"]}
{"category": ["biolink:Disease"], "description": "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.", "id": "MONDO:0011050", "name": "Microcephaly-cardiac defect-lung malsegmentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ellis-Yale-Winter syndrome"], "xref": ["GARD:0002098", "MEDGEN:371329", "MESH:C563341", "OMIM:601355", "Orphanet:2516", "SCTID:719379001", "UMLS:C1832436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011051", "name": "Lethal short-limb skeletal dysplasia, al gazali type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["dysplastic cortical hyperostosis, Al-Gazali type", "lethal short-limb skeletal dysplasia, Al Gazali type"], "xref": ["GARD:0004827", "MEDGEN:330467", "MESH:C537598", "OMIM:601356", "Orphanet:646136", "UMLS:C1832435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011052", "name": "Amelia cleft lip palate hydrocephalus iris coloboma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amelia cleft lip palate hydrocephalus iris coloboma"], "xref": ["MEDGEN:321957", "MESH:C536713", "OMIM:601357", "UMLS:C1832434"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.", "id": "MONDO:0011053", "name": "Intellectual disability-sparse hair-brachydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nicolaides-Baraitser syndrome", "SMARCA2-related BAFopathy", "intellectual disability-sparse hair-brachydactyly syndrome"], "xref": ["DOID:0081441", "GARD:0000270", "MEDGEN:220983", "MESH:C536116", "OMIM:601358", "Orphanet:3051", "SCTID:401046009", "UMLS:C1303073"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.", "id": "MONDO:0011054", "name": "Autosomal recessive amelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome"], "xref": ["GARD:0016554", "MEDGEN:321955", "MESH:C563338", "OMIM:601360", "Orphanet:1027", "SCTID:726735000", "UMLS:C1832432"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.", "id": "MONDO:0011055", "name": "Distal monosomy 10p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["distal 10p deletion", "distal monosomy type 10p", "monosomy 10pter", "telomeric deletion 10p"], "xref": ["GARD:0001323", "MEDGEN:321954", "MESH:C563337", "Orphanet:1580", "SCTID:719686003", "UMLS:C1832431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011056", "name": "Wilms tumor 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Wilms tumor 4", "Wilms tumor type 4", "Wilms tumor, type 4", "Wilms tumour type 4"], "xref": ["GARD:0015328", "MEDGEN:318623", "MESH:C563336", "OMIM:601363", "UMLS:C1832426"]}
{"category": ["biolink:Disease"], "description": "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.", "id": "MONDO:0011057", "name": "Cerebrovascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebrovascular disease", "cerebrovascular disorder"], "xref": ["DOID:6713", "EFO:0003763", "ICD10CM:I60-I69", "ICD9:430-438", "ICD9:434.91", "ICD9:437.8", "ICD9:437.9", "MEDGEN:858", "MESH:D002561", "NCIT:C2938", "SCTID:62914000", "UMLS:C0007820", "icd11.foundation:843843448"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.", "id": "MONDO:0011058", "name": "Autosomal dominant nonsyndromic hearing loss 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110593", "GARD:0018105", "MEDGEN:371327", "MESH:C563335", "OMIM:601369", "UMLS:C1832425"]}
{"category": ["biolink:Disease"], "description": "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.", "id": "MONDO:0011059", "name": "Holoprosencephaly-craniosynostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Camero-Lituania-Cohen syndrome", "Genoa syndrome"], "xref": ["GARD:0002454", "MEDGEN:330464", "MESH:C537684", "OMIM:601370", "Orphanet:2163", "SCTID:715434005", "UMLS:C1832424"]}
{"category": ["biolink:Disease"], "description": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.", "id": "MONDO:0011060", "name": "Early-onset non-syndromic cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016801", "MEDGEN:371326", "OMIM:601371", "Orphanet:91492", "UMLS:C1832423", "icd11.foundation:1080602978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011061", "name": "Chorea, remitting, with nystagmus and cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chorea, remitting, with nystagmus and cataract"], "xref": ["GARD:0009606", "MEDGEN:330463", "MESH:C535355", "OMIM:601372", "UMLS:C1832422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011062", "name": "Aprosencephaly cerebellar dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004518", "MEDGEN:330459", "MESH:C563331", "OMIM:601374", "Orphanet:1126", "UMLS:C1832412"]}
{"category": ["biolink:Disease"], "description": "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.", "id": "MONDO:0011063", "name": "Hidrotic ectodermal dysplasia, christianson-fourie type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Christianson-Fourie syndrome"], "xref": ["GARD:0002682", "MEDGEN:371322", "MESH:C536180", "OMIM:601375", "Orphanet:1808", "UMLS:C1832411", "icd11.foundation:661397711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011064", "name": "Lethal chondrodysplasia, seller type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0003226", "MEDGEN:318622", "MESH:C563330", "OMIM:601376", "Orphanet:1421", "UMLS:C1832410"]}
{"category": ["biolink:Disease"], "description": "Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).", "id": "MONDO:0011065", "name": "Hunter-mcalpine craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002754", "MEDGEN:321949", "MESH:C536072", "OMIM:601379", "Orphanet:97340", "SCTID:721227001", "UMLS:C1832408", "icd11.foundation:1445975694"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).", "id": "MONDO:0011066", "name": "Charcot-marie-tooth disease type 4b1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4B1", "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2", "Charcot-Marie-Tooth disease type 4B1", "MTMR2 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110191", "GARD:0001253", "MEDGEN:321947", "MESH:C535420", "OMIM:601382", "Orphanet:99955", "SCTID:715803003", "UMLS:C1832399", "icd11.foundation:776238355"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.", "id": "MONDO:0011067", "name": "Autosomal recessive nonsyndromic hearing loss 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 12"], "xref": ["DOID:0110467", "GARD:0022590", "MEDGEN:330455", "MESH:C563327", "OMIM:601386", "UMLS:C1832394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011069", "name": "Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction"], "xref": ["MEDGEN:318617", "MESH:C538072", "OMIM:601389", "UMLS:C1832391"]}
{"category": ["biolink:Disease"], "description": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.", "id": "MONDO:0011070", "name": "Van maldergem syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DCHS1 van Maldergem syndrome", "Van Maldergem syndrome type 1", "van Maldergem syndrome 1", "van Maldergem syndrome caused by mutation in DCHS1"], "xref": ["DOID:0080585", "GARD:0024770", "MEDGEN:1644627", "OMIM:601390", "UMLS:C4551950"]}
{"category": ["biolink:Disease"], "description": "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.", "id": "MONDO:0011071", "name": "Hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["hereditary thrombocytopenia and hematologic cancer predisposition syndrome"], "xref": ["GARD:0010352", "MESH:C563324", "NCIT:C162696", "Orphanet:71290", "SCTID:725034002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011072", "name": "Diabetes mellitus, noninsulin-dependent, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NIDDM2", "diabetes mellitus, noninsulin-dependent, 2"], "xref": ["GARD:0024771", "MEDGEN:321944", "MESH:C563323", "OMIM:601407", "UMLS:C1832387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011073", "name": "Diabetes mellitus, transient neonatal, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diabetes mellitus, transient neonatal 1", "diabetes mellitus, transient neonatal, 1", "diabetes mellitus, transient neonatal, type 1"], "xref": ["DOID:0061173", "GARD:0001839", "MEDGEN:371317", "MESH:C563322", "OMIM:601410", "Orphanet:99886", "SCTID:609579009", "UMLS:C1832386"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.", "id": "MONDO:0011074", "name": "Autosomal dominant nonsyndromic hearing loss 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0110591", "GARD:0018106", "MEDGEN:318614", "MESH:C563321", "OMIM:601412", "UMLS:C1832379"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.", "id": "MONDO:0011075", "name": "Retinitis pigmentosa 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPF3 retinitis pigmentosa", "RP18", "retinitis pigmentosa 18", "retinitis pigmentosa caused by mutation in PRPF3", "retinitis pigmentosa type 18"], "xref": ["DOID:0110356", "GARD:0010392", "MEDGEN:371314", "MESH:C563320", "OMIM:601414", "UMLS:C1832378"]}
{"category": ["biolink:Disease"], "description": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.", "id": "MONDO:0011076", "name": "Myofibrillar myopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DES autosomal recessive limb-girdle muscular dystrophy", "DES myofibrillar myopathy (disease)", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "autosomal recessive limb-girdle muscular dystrophy type 2R", "desmin-related myofibrillar myopathy", "desminopathy", "myofibrillar myopathy (disease) caused by mutation in DES", "myofibrillar myopathy 1", "myofibrillar myopathy type 1", "myopathy, myofibrillar, type 1"], "xref": ["DOID:0080092", "DOID:0110286", "GARD:0016870", "MEDGEN:330449", "OMIM:601419", "OMIM:615325", "Orphanet:363543", "Orphanet:98909", "UMLS:C1832370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011077", "name": "Microcephaly, corpus callosum dysgenesis, and cleft lip/palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, corpus callosum dysgenesis, and cleft lip/palate"], "xref": ["MEDGEN:330448", "MESH:C537547", "OMIM:601420", "UMLS:C1832369"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.", "id": "MONDO:0011078", "name": "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"], "xref": ["GARD:0003062", "MEDGEN:316973", "MESH:C537694", "OMIM:601427", "Orphanet:2321", "UMLS:C1832362"]}
{"category": ["biolink:Disease"], "description": "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.", "id": "MONDO:0011079", "name": "Rhizomelic dysplasia, patterson-lowry type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["rhizomelic dysplasia, Patterson-Lowry type"], "xref": ["GARD:0004703", "MEDGEN:321940", "MESH:C537609", "OMIM:601438", "Orphanet:2831", "SCTID:715505002", "UMLS:C1832359", "icd11.foundation:1681747199"]}
{"category": ["biolink:Disease"], "description": "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).", "id": "MONDO:0011080", "name": "Progressive deafness with stapes fixation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stapedo-vestibular ankylosis", "Thies-Reis syndrome"], "xref": ["GARD:0005170", "MEDGEN:330446", "MESH:C563316", "OMIM:601449", "Orphanet:3235", "SCTID:715529009", "UMLS:C1832354", "icd11.foundation:1909954882"]}
{"category": ["biolink:Disease"], "description": "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.", "id": "MONDO:0011081", "name": "Dislocation of the hip-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Collins-Pope syndrome"], "xref": ["GARD:0001428", "MEDGEN:316970", "MESH:C563315", "OMIM:601450", "Orphanet:2412", "SCTID:763755009", "UMLS:C1832353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011082", "name": "Oculoauriculofrontonasal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OAFNS", "oculoauriculofrontonasal syndrome"], "xref": ["GARD:0004031", "MEDGEN:316969", "MESH:C537865", "OMIM:601452", "Orphanet:398156", "UMLS:C1832352"]}
{"category": ["biolink:Disease"], "description": "Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.", "id": "MONDO:0011083", "name": "Trichodental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["kersey syndrome"], "xref": ["GARD:0000265", "MEDGEN:96068", "MESH:C536551", "OMIM:601453", "Orphanet:3351", "SCTID:277810000", "UMLS:C0406724", "icd11.foundation:944650339"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.", "id": "MONDO:0011085", "name": "Charcot-marie-tooth disease type 4d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4D", "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1", "Charcot-Marie-Tooth disease type 4D", "HMSN, Lom type", "HMSN-Lom", "HMSN4D", "HMSNL", "NDRG1 Charcot-Marie-Tooth disease type 4", "hereditary motor ABD sensory neuropathy Lom type", "hereditary motor and sensory neuropathy, Lom type"], "xref": ["DOID:0110186", "GARD:0003973", "MEDGEN:371304", "MESH:C535716", "OMIM:601455", "Orphanet:99950", "SCTID:715798007", "UMLS:C1832334", "icd11.foundation:616686295"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.", "id": "MONDO:0011086", "name": "Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID due to complete RAG1/2 deficiency", "severe combined immunodeficiency, B cell-negative", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"], "xref": ["DOID:0090013", "GARD:0010339", "MEDGEN:321935", "MESH:C563311", "OMIM:601457", "Orphanet:331206", "UMLS:C1832322"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.", "id": "MONDO:0011087", "name": "Inflammatory bowel disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD2", "inflammatory bowel disease 2", "inflammatory bowel disease type 2"], "xref": ["DOID:0110900", "MEDGEN:321934", "MESH:C563310", "OMIM:601458", "UMLS:C1832321"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.", "id": "MONDO:0011088", "name": "Congenital myasthenic syndrome 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHRNA1 congenital myasthenic syndrome", "CMS1A", "congenital myasthenic syndrome caused by mutation in CHRNA1", "congenital myasthenic syndrome type 1A"], "xref": ["DOID:0110663", "GARD:0015330", "MEDGEN:419336", "OMIM:601462", "UMLS:C2931107"]}
{"category": ["biolink:Disease"], "description": "Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation.", "id": "MONDO:0011089", "name": "Patent ductus venosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["patent ductus venosus"], "xref": ["GARD:0027126", "ICD9:747.49", "MEDGEN:91033", "MESH:C562830", "OMIM:601466", "SCTID:253330006", "UMLS:C0344688"]}
{"category": ["biolink:Disease"], "description": "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.", "id": "MONDO:0011090", "name": "Isolated hereditary congenital facial paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0008583", "MEDGEN:1381843", "MESH:C563309", "OMIMPS:601471", "Orphanet:306527", "SCTID:733091002", "UMLS:C4518577"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.", "id": "MONDO:0011091", "name": "Charcot-marie-tooth disease type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2D", "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS", "Charcot-Marie-Tooth disease, type 2D", "GARS Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2D"], "xref": ["DOID:0110164", "GARD:0001251", "MEDGEN:316946", "MESH:C537993", "NCIT:C122659", "OMIM:601472", "Orphanet:99938", "SCTID:717011006", "UMLS:C1832274", "icd11.foundation:1617529678"]}
{"category": ["biolink:Disease"], "description": "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.", "id": "MONDO:0011092", "name": "Ribbing disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ribbing disease"], "xref": ["MEDGEN:321923", "MESH:C537613", "OMIM:601477", "UMLS:C1832273"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.", "id": "MONDO:0011093", "name": "Mucopolysaccharidosis type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPS9", "MPSIX", "mucopolysaccharidosis type 9", "mucopolysaccharidosis type IX"], "xref": ["DOID:0050809", "GARD:0016675", "ICD9:277.6", "MEDGEN:226942", "MESH:C563209", "NANDO:1200115", "NCIT:C129073", "OMIM:601492", "Orphanet:67041", "SCTID:124473006", "UMLS:C1291490", "icd11.foundation:952591271"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.", "id": "MONDO:0011094", "name": "Dilated cardiomyopathy 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cardiomyopathy, dilated, 1C, with or without LVNC", "cardiomyopathy, hypertrophic, 24", "dilated cardiomyopathy type 1C"], "xref": ["DOID:0110423", "GARD:0015331", "MEDGEN:316944", "MESH:C563307", "NCIT:C170436", "OMIM:601493", "UMLS:C1832244"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.", "id": "MONDO:0011095", "name": "Dilated cardiomyopathy 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1D", "TNNT2 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1D", "dilated cardiomyopathy 1D", "dilated cardiomyopathy type 1D", "familial isolated dilated cardiomyopathy caused by mutation in TNNT2"], "xref": ["DOID:0110426", "GARD:0015332", "MEDGEN:316943", "MESH:C563306", "OMIM:601494", "UMLS:C1832243"]}
{"category": ["biolink:Disease"], "description": "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.", "id": "MONDO:0011096", "name": "Autosomal agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AGM", "agammaglobulinemia, non-Bruton type"], "xref": ["GARD:0009640", "MEDGEN:316941", "MESH:C538056", "Orphanet:33110", "UMLS:C1832241"]}
{"category": ["biolink:Disease"], "description": "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.", "id": "MONDO:0011097", "name": "Axenfeld-rieger syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RIEG2"], "xref": ["DOID:0110121", "GARD:0010517", "MEDGEN:316937", "MESH:C535680", "OMIM:601499", "UMLS:C1832229"]}
{"category": ["biolink:Disease"], "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "id": "MONDO:0011098", "name": "Prostate cancer, hereditary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RNASEL familial prostate cancer", "familial prostate cancer caused by mutation in RNASEL", "prostate cancer 1", "prostate cancer, hereditary, 1", "prostate cancer, hereditary, type 1"], "xref": ["GARD:0015334", "MEDGEN:1648436", "OMIM:601518", "UMLS:C4722327"]}
{"category": ["biolink:Disease"], "description": "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.", "id": "MONDO:0011099", "name": "Human hoxa1 syndromes", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABSD", "Athabascan brainstem dysgenesis syndrome", "Athabaskan brainstem dysgenesis syndrome", "Navajo brainstem syndrome"], "xref": ["DOID:0050682", "GARD:0008333", "MEDGEN:330410", "OMIM:601536", "Orphanet:69739", "SCTID:720518006", "UMLS:C1832215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011100", "name": "Microcephaly, retinitis pigmentosa, and sutural cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, retinitis pigmentosa, and sutural cataract"], "xref": ["MEDGEN:316936", "MESH:C563296", "OMIM:601537", "UMLS:C1832214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011101", "name": "Peroxisome biogenesis disorder 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 1B", "peroxisome biogenesis disorder 1B (NALD/IRD)", "peroxisome biogenesis disorder type 1B"], "xref": ["DOID:0081240", "GARD:0024772", "MEDGEN:79470", "NCIT:C155749", "OMIM:601539", "UMLS:C0282527"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.", "id": "MONDO:0011102", "name": "Autosomal dominant nonsyndromic hearing loss 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal dominant nonsyndromic hearing loss 12"], "xref": ["DOID:0110544", "GARD:0018107", "MEDGEN:321902", "MESH:C563295", "OMIM:601543", "UMLS:C1832187"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.", "id": "MONDO:0011103", "name": "Autosomal dominant nonsyndromic hearing loss 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GJB2-AD NSHL", "GJB2-related autosomal dominant nonsyndromic hearing loss"], "xref": ["DOID:0110564", "GARD:0009933", "MEDGEN:436512", "MESH:C567277", "OMIM:601544", "UMLS:C2675750"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.", "id": "MONDO:0011104", "name": "Cataract 3 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CRYBB2 cataract (disease)", "CTRCT3", "cataract (disease) caused by mutation in CRYBB2"], "xref": ["DOID:0110269", "GARD:0015335", "MEDGEN:321901", "MESH:C563294", "OMIM:601547", "UMLS:C1832175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011105", "name": "Alacrima, congenital, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["alacrima, congenital, autosomal recessive"], "xref": ["GARD:0018166", "MEDGEN:861034", "OMIM:601549", "UMLS:C4012597"]}
{"category": ["biolink:Disease"], "description": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.", "id": "MONDO:0011106", "name": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FDLAB syndrome", "Traboulsi syndrome", "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome", "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"], "xref": ["GARD:0017688", "MEDGEN:330396", "MESH:C563293", "OMIM:601552", "Orphanet:412022", "UMLS:C1832167"]}
{"category": ["biolink:Disease"], "description": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.", "id": "MONDO:0011107", "name": "Congenital hypotrichosis with juvenile macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HJMD", "Hjmd", "hypotrichosis with cone-rod dystrophy", "hypotrichosis with juvenile macular dystrophy"], "xref": ["DOID:0110711", "GARD:0003066", "MEDGEN:316921", "MESH:C537698", "OMIM:601553", "Orphanet:1573", "UMLS:C1832162"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.", "id": "MONDO:0011109", "name": "Multiple epiphyseal dysplasia, lowry type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["multiple epiphyseal dysplasia with Robin phenotype"], "xref": ["GARD:0017013", "MEDGEN:321890", "MESH:C563291", "OMIM:601560", "Orphanet:166016", "SCTID:768935003", "UMLS:C1832112"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.", "id": "MONDO:0011110", "name": "Dyssegmental dysplasia-glaucoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "xref": ["MEDGEN:330382", "MESH:C563290", "OMIM:601561", "Orphanet:1804", "UMLS:C1832111"]}
{"category": ["biolink:Disease"], "description": "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.", "id": "MONDO:0011112", "name": "Wilms tumor 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Wilms tumor 5", "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation", "Wilms tumor type 5", "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation", "Wilms tumour type 5"], "xref": ["GARD:0015336", "MEDGEN:316905", "MESH:C536707", "OMIM:601583", "UMLS:C1832099"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.", "id": "MONDO:0011113", "name": "Charcot-marie-tooth disease type 4c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4C", "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2", "Charcot-Marie-Tooth disease type 4C", "SH3TC2 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110183", "GARD:0009201", "MEDGEN:356581", "MESH:C535423", "NCIT:C129864", "OMIM:601596", "Orphanet:99949", "SCTID:715797002", "UMLS:C1866636", "icd11.foundation:382219984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011114", "name": "Familial multiple trichoepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0010867", "MEDGEN:220890", "NCIT:C205364", "Orphanet:867", "SCTID:403825008", "UMLS:C1275122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011115", "name": "Spastic paraplegia and evans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic paraplegia and Evans syndrome"], "xref": ["MEDGEN:355764", "MESH:C566652", "OMIM:601608", "UMLS:C1866619"]}
{"category": ["biolink:Disease"], "description": "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.", "id": "MONDO:0011116", "name": "Lung agenesis-heart defect-thumb anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mardini-Nyhan syndrome"], "xref": ["GARD:0003378", "MEDGEN:477585", "MESH:C535708", "OMIM:601612", "Orphanet:1120", "SCTID:721976003", "UMLS:C3275954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011117", "name": "Iris pigment epithelium anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iris pigment epithelium anomalies"], "xref": ["MEDGEN:357091", "MESH:C566651", "OMIM:601616", "UMLS:C1866608"]}
{"category": ["biolink:Disease"], "description": "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003", "id": "MONDO:0011118", "name": "Bilineal acute myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acute bilineal leukaemia", "acute bilineal leukemia"], "xref": ["GARD:0024773", "MEDGEN:87614", "NCIT:C6923", "Orphanet:98836", "UMLS:C0349680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011119", "name": "Iridogoniodysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["IRID"], "xref": ["DOID:0050786", "GARD:0016484", "MEDGEN:861486", "Orphanet:98634", "UMLS:C4013049", "icd11.foundation:2030725523"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011120", "name": "Neural tube defects, folate-sensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["neural tube defects, folate-sensitive"], "xref": ["GARD:0024774", "MEDGEN:355746", "MESH:C536409", "OMIM:601634", "UMLS:C1866558"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.", "id": "MONDO:0011121", "name": "Pheochromocytoma/paraganglioma syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SDHAF2 paraganglioma", "SDHAF2-related tumor predisposition", "paraganglioma caused by mutation in SDHAF2", "paragangliomas 2", "paragangliomas type 2", "pheochromocytoma/paraganglioma syndrome 2"], "xref": ["DOID:0061217", "GARD:0010544", "MEDGEN:357076", "MESH:C566646", "OMIM:601650", "UMLS:C1866552"]}
{"category": ["biolink:Disease"], "description": "A disorder involving an excessive amount of body fat.", "id": "MONDO:0011122", "name": "Obesity disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obesity", "obesity disease"], "xref": ["DOID:9970", "EFO:0001073", "HP:0001513", "ICD9:278.0", "ICD9:278.00", "MEDGEN:18127", "NCIT:C3283", "Orphanet:521399", "SCTID:414916001", "UMLS:C0028754"]}
{"category": ["biolink:Disease"], "description": "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.", "id": "MONDO:0011124", "name": "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017030", "MEDGEN:356550", "MESH:C566644", "OMIM:601668", "Orphanet:168451", "UMLS:C1866507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011125", "name": "Trichothiodystrophy 1, photosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIBIDS syndrome", "trichothiodystrophy 1, photosensitive"], "xref": ["DOID:0111873", "GARD:0005270", "MEDGEN:355730", "NCIT:C156433", "OMIM:601675", "Orphanet:670", "UMLS:C1866504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011126", "name": "Acute insulin response", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AIR", "acute insulin response"], "xref": ["MEDGEN:355729", "OMIM:601676", "UMLS:C1866503"]}
{"category": ["biolink:Disease"], "description": "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.", "id": "MONDO:0011128", "name": "Sheldon-hall syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA2B", "Freeman-Sheldon syndrome variant", "Sheldon-Hall syndrome", "arthrogryposis, distal, type 2B", "distal arthrogryposis type 2B"], "xref": ["DOID:0111599", "GARD:0016556", "MEDGEN:320374", "Orphanet:1147", "UMLS:C1834523", "icd11.foundation:1206883656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011129", "name": "Glaucoma type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glaucoma 1C, primary open angle"], "xref": ["GARD:0002484", "MEDGEN:356544", "OMIM:601682", "UMLS:C1866483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011130", "name": "Sebaceous gland hyperplasia, familial presenile", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sebaceous gland hyperplasia, familial presenile"], "xref": ["MEDGEN:356529", "MESH:C537530", "OMIM:601700", "UMLS:C1866428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011131", "name": "Tricho-oculo-dermo-vertebral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Alves-dos Santos-Castelo syndrome", "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome"], "xref": ["GARD:0001553", "MEDGEN:355714", "MESH:C537441", "OMIM:601701", "Orphanet:3354", "UMLS:C1866427", "icd11.foundation:1206025469"]}
{"category": ["biolink:Disease"], "description": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.", "id": "MONDO:0011132", "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FOXN1 deficiency", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "alopecia immunodeficiency", "alymphoid cystic thymic dysgenesis", "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome", "winged helix deficiency"], "xref": ["DOID:0060769", "GARD:0004358", "MEDGEN:355713", "MESH:C536781", "OMIM:601705", "Orphanet:169095", "SCTID:720345008", "UMLS:C1866426"]}
{"category": ["biolink:Disease"], "description": "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.", "id": "MONDO:0011133", "name": "Deaf blind hypopigmentation syndrome, yemenite type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Warburg-Thomsen syndrome", "Yemenite deaf-blind hypopigmentation syndrome"], "xref": ["GARD:0005535", "MEDGEN:355712", "MESH:C536771", "OMIM:601706", "Orphanet:3214", "SCTID:721084001", "UMLS:C1866425", "icd11.foundation:2090985024"]}
{"category": ["biolink:Disease"], "description": "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.", "id": "MONDO:0011134", "name": "Curry-jones syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Curry-Jones syndrome, somatic mosaic", "corpus callosum agenesis-polysyndactyly syndrome", "curry-Jones syndrome"], "xref": ["GARD:0005584", "MEDGEN:167083", "MESH:C536735", "OMIM:601707", "Orphanet:1553", "SCTID:720819006", "UMLS:C0795915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011135", "name": "Superior transverse scapular ligament, calcification of, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["superior transverse scapular ligament, calcification of, familial"], "xref": ["MEDGEN:355711", "MESH:C566638", "OMIM:601708", "UMLS:C1866424"]}
{"category": ["biolink:Disease"], "description": "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.", "id": "MONDO:0011136", "name": "Quebec platelet disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT5", "Quebec platelet disorder", "factor V Quebec"], "xref": ["DOID:0111050", "GARD:0008345", "MEDGEN:356528", "MESH:C536260", "OMIM:601709", "Orphanet:220436", "UMLS:C1866423", "icd11.foundation:1618741944"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.", "id": "MONDO:0011137", "name": "Retinitis pigmentosa 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCA4 retinitis pigmentosa", "RP19", "retinitis pigmentosa 19", "retinitis pigmentosa caused by mutation in ABCA4", "retinitis pigmentosa type 19"], "xref": ["DOID:0110354", "GARD:0010398", "MEDGEN:400996", "MESH:C566637", "OMIM:601718", "UMLS:C1866422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011139", "name": "Preaxial hallucal polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["preaxial hallucal polydactyly"], "xref": ["GARD:0024775", "MEDGEN:356507", "MESH:C566632", "OMIM:601759", "UMLS:C1866339"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011141", "name": "Megaloblastic anemia, folate-responsive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MEGAF", "folate level in erythrocytes"], "xref": ["GARD:0027127", "MEDGEN:440842", "OMIM:601775", "UMLS:C2749656"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.", "id": "MONDO:0011142", "name": "Ehlers-danlos syndrome, musculocontractural type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATCS", "CHST14-related EDS", "CHST14-related Ehlers-Danlos syndrome", "D4ST1-deficient EDS", "D4ST1-deficient Ehlers-Danlos syndrome", "EDS, Kosho type", "EDS, arthrogryposic type", "EDS, musculocontractural type", "Ehlers-Danlos syndrome, Kosho type", "Ehlers-Danlos syndrome, arthrogryposic type", "MCEDS", "adducted thumb-clubfoot syndrome", "adducted thumbs-arthrogryposis syndrome, Dundar type", "musculocontractural Ehlers-Danlos syndrome"], "xref": ["GARD:0008486", "MEDGEN:356497", "MESH:C000600608", "NANDO:1200652", "NANDO:2201262", "Orphanet:2953", "SCTID:720860004", "UMLS:C1866294"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.", "id": "MONDO:0011143", "name": "Cone-rod dystrophy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD6", "GUCY2D cone-rod dystrophy", "RCD2", "cone-rod dystrophy 6", "cone-rod dystrophy caused by mutation in GUCY2D", "cone-rod dystrophy type 6", "retinal cone dystrophy 2"], "xref": ["DOID:0111011", "GARD:0010656", "MEDGEN:400963", "MESH:C538363", "OMIM:601777", "UMLS:C1866293"]}
{"category": ["biolink:Disease"], "description": "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "id": "MONDO:0011144", "name": "Ceroid lipofuscinosis, neuronal, 6a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN6", "CLN6 late infantile neuronal ceroid lipofuscinosis", "CLN6A", "ceroid lipofuscinosis, neuronal, type 6", "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6", "neuronal ceroid lipofuscinosis type 6", "neuronal ceroid lipofuscinosis, late infantile, variant", "vLINCL"], "xref": ["DOID:0110729", "GARD:0001224", "MEDGEN:1790423", "MESH:C566627", "OMIM:601780", "Orphanet:228363", "UMLS:C5551375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011145", "name": "Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017575", "MEDGEN:400954", "MESH:C566623", "OMIM:601794", "Orphanet:363741", "UMLS:C1866256"]}
{"category": ["biolink:Disease"], "description": "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.", "id": "MONDO:0011146", "name": "Tetrasomy 12p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Isochromosome 12p mosaicism", "Isochromosome 12p syndrome", "Pallister Killian Mosaic Syndrome", "Pallister-Killian syndrome", "Pallister-Killian syndrome, Somatic mosaicism", "tetrasomy type 12p"], "xref": ["GARD:0008421", "ICD9:758.81", "MEDGEN:120540", "MESH:C538105", "NCIT:C75458", "NORD:1546", "OMIM:601803", "Orphanet:884", "SCTID:9527009", "UMLS:C0265449"]}
{"category": ["biolink:Disease"], "description": "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.", "id": "MONDO:0011147", "name": "Chromosome 18q deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["18Q syndrome", "18q deletion syndrome", "18q-syndrome", "Chromosome 18q- Syndrome", "chromosome 18q deletion syndrome", "deletion 18q", "deletion 18q syndrome", "monosomy type 18q", "partial deletion of chromosome 18q", "partial deletion of the long arm of chromosome 18", "partial deletion of the long arm of chromosome type 18", "partial monosomy of chromosome 18q", "partial monosomy of the long arm of chromosome 18"], "xref": ["DOID:0060407", "GARD:0020837", "ICD9:758.39", "MEDGEN:96605", "MESH:C536580", "NANDO:1200579", "NANDO:2201291", "NCIT:C84522", "NORD:946", "OMIM:601808", "Orphanet:1600", "Orphanet:262146", "SCTID:270889005", "UMLS:C0432443", "icd11.foundation:1121828795"]}
{"category": ["biolink:Disease"], "description": "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.", "id": "MONDO:0011148", "name": "Spondylospinal thoracic dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spondylospinal thoracic dysostosis"], "xref": ["MEDGEN:400937", "MESH:C566622", "OMIM:601809", "UMLS:C1866184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011149", "name": "Premature aging syndrome, okamoto type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["premature aging syndrome, Okamoto type"], "xref": ["GARD:0004478", "MEDGEN:356468", "MESH:C566621", "OMIM:601811", "UMLS:C1866183"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011150", "name": "Acroosteolysis-keloid-like lesions-premature aging syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["premature ageing syndrome, Penttinen type", "premature aging syndrome, Penttinen type"], "xref": ["GARD:0004276", "MEDGEN:400936", "MESH:C536653", "OMIM:601812", "Orphanet:363665", "UMLS:C1866182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011151", "name": "Exudative vitreoretinopathy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["exudative vitreoretinopathy 4", "exudative vitreoretinopathy type 4"], "xref": ["DOID:0111411", "GARD:0015337", "MEDGEN:356171", "MESH:C566619", "OMIM:601813", "UMLS:C1866176"]}
{"category": ["biolink:Disease"], "description": "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form", "id": "MONDO:0011152", "name": "Phgdh deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHGDH deficiency", "PHOSPHOGLYCERATE dehydrogenase deficiency"], "xref": ["DOID:0050722", "GARD:0016718", "MEDGEN:400935", "MESH:C566618", "OMIM:601815", "Orphanet:79351", "UMLS:C1866174"]}
{"category": ["biolink:Disease"], "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.", "id": "MONDO:0011153", "name": "Hyperinsulinemic hypoglycemia, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KCNJ11 hyperinsulinemic hypoglycemia (disease)", "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11", "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "hyperinsulinemic hypoglycemia, familial, 2", "hyperinsulinemic hypoglycemia, familial, type 2"], "xref": ["DOID:0070218", "GARD:0009927", "MEDGEN:419173", "OMIM:601820", "UMLS:C2931833"]}
{"category": ["biolink:Disease"], "description": "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.", "id": "MONDO:0011154", "name": "Acrofacial dysostosis, palagonia type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Palagonia type of acrofacial dysostosis", "acrofacial dysostosis, Palagonia type"], "xref": ["DOID:0060385", "GARD:0000499", "MEDGEN:355645", "MESH:C538185", "OMIM:601829", "Orphanet:1787", "SCTID:720429007", "UMLS:C1866168", "icd11.foundation:656294814"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011155", "name": "Vacuolar neuromyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["muscular dystrophy with rimmed vacuoles", "vacuolar Neuromyopathy"], "xref": ["MEDGEN:355637", "MESH:C566617", "OMIM:601846", "Orphanet:696063", "UMLS:C1866139"]}
{"category": ["biolink:Disease"], "description": "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.", "id": "MONDO:0011156", "name": "Progressive familial intrahepatic cholestasis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABCB11 progressive familial intrahepatic cholestasis", "BSEP deficiency", "PFIC2", "cholestasis, progressive familial intrahepatic 2", "cholestasis, progressive familial intrahepatic, type 2", "progressive familial intrahepatic cholestasis caused by mutation in ABCB11", "progressive familial intrahepatic cholestasis type 2"], "xref": ["DOID:0070222", "GARD:0001288", "MEDGEN:483742", "NANDO:1201044", "OMIM:601847", "Orphanet:79304", "UMLS:C3489789", "icd11.foundation:1168921980"]}
{"category": ["biolink:Disease"], "description": "A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.", "id": "MONDO:0011157", "name": "Gomez-lopez-hernandez syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cerebellotrigeminal-dermal dysplasia syndrome", "Gomez-Lopez-Hernandez syndrome", "craniosynostosis-alopecia-brain defect syndrome"], "xref": ["GARD:0000229", "MEDGEN:163201", "MESH:C537285", "OMIM:601853", "Orphanet:1532", "SCTID:722451006", "UMLS:C0795959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011158", "name": "Autoimmune lymphoproliferative syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["autoimmune lymphoproliferative syndrome type 1", "autoimmune lymphoproliferative syndrome, type IA", "autoimmune lymphoproliferative syndrome, type IB"], "xref": ["GARD:0024776", "ICD9:279.41", "MEDGEN:231300", "OMIM:601859", "SCTID:702444009", "UMLS:C1328840"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.", "id": "MONDO:0011159", "name": "Autosomal dominant nonsyndromic hearing loss 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110545", "GARD:0018108", "MEDGEN:400917", "MESH:C566612", "OMIM:601868", "UMLS:C1866095"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.", "id": "MONDO:0011160", "name": "Autosomal recessive nonsyndromic hearing loss 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 15"], "xref": ["DOID:0110470", "GARD:0022591", "MEDGEN:355626", "MESH:C566611", "OMIM:601869", "UMLS:C1866094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011161", "name": "Sperm-specific antigen 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sperm-specific antigen 1", "sperm-specific antigen type 1"], "xref": ["MEDGEN:244171", "OMIM:601876", "UMLS:C1420425"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.", "id": "MONDO:0011162", "name": "Cataract 14 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT14", "GJA3 early-onset non-syndromic cataract", "early-onset non-syndromic cataract caused by mutation in GJA3"], "xref": ["DOID:0110253", "GARD:0024777", "MEDGEN:356152", "MESH:C566608", "OMIM:601885", "UMLS:C1866078"]}
{"category": ["biolink:Disease"], "description": "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.", "id": "MONDO:0011165", "name": "Glomerulopathy with fibronectin deposits 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FN1 fibronectin glomerulopathy", "fibronectin glomerulopathy caused by mutation in FN1", "glomerulopathy with fibronectin deposits 2", "glomerulopathy with fibronectin deposits type 2"], "xref": ["GARD:0009914", "MEDGEN:356149", "OMIM:601894", "SCTID:722759007", "UMLS:C1866075"]}
{"category": ["biolink:Disease"], "description": "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.", "id": "MONDO:0011166", "name": "Lymphedema-atrial septal defects-facial changes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Irons-Bhan syndrome", "Irons-Bianchi syndrome"], "xref": ["GARD:0000284", "MEDGEN:383042", "MESH:C535539", "MESH:C567398", "OMIM:601927", "Orphanet:86915", "SCTID:721978002", "UMLS:C2677167"]}
{"category": ["biolink:Disease"], "description": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.", "id": "MONDO:0011169", "name": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KLICK syndrome", "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"], "xref": ["GARD:0017306", "MEDGEN:356430", "MESH:C566600", "OMIM:601952", "Orphanet:281201", "SCTID:763775000", "UMLS:C1866029"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.", "id": "MONDO:0011170", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2g", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2G", "TCAP autosomal recessive limb-girdle muscular dystrophy", "Tcap autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap", "limb-girdle muscular dystrophy due to telethonin deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 7", "muscular dystrophy, limb-girdle, type 2G"], "xref": ["DOID:0110281", "GARD:0010471", "MEDGEN:400895", "MESH:C566599", "OMIM:601954", "Orphanet:34514", "SCTID:720522001", "UMLS:C1866008"]}
{"category": ["biolink:Disease"], "description": "Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.", "id": "MONDO:0011171", "name": "Odonto-tricho-ungual-digito-palmar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OTUDP syndrome", "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type"], "xref": ["GARD:0016679", "MEDGEN:400891", "MESH:C566598", "OMIM:601957", "Orphanet:69082", "SCTID:722063009", "UMLS:C1865998", "icd11.foundation:386386782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011172", "name": "Otofacioosseous-gonadal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["otofacioosseous-gonadal syndrome"], "xref": ["MEDGEN:356416", "MESH:C566597", "OMIM:601976", "UMLS:C1865988"]}
{"category": ["biolink:Disease"], "description": "Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.", "id": "MONDO:0011173", "name": "Thrombocythemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPL familial thrombocytosis", "familial thrombocytosis caused by mutation in MPL", "thrombocythemia 2", "thrombocythemia 2, autosomal dominant, somatic mutation", "thrombocythemia type 2"], "xref": ["GARD:0024778", "MEDGEN:477629", "OMIM:601977", "UMLS:C3275998"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011174", "name": "Hyperzincemia with functional zinc depletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hyperzincemia and hypercalprotectinemia", "hyperzincemia with functional zinc depletion", "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome"], "xref": ["DOID:0061185", "GARD:0027262", "MEDGEN:1813911", "MESH:C566595", "OMIM:601979", "Orphanet:251523", "UMLS:C4760957"]}
{"category": ["biolink:Disease"], "description": "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11", "id": "MONDO:0011175", "name": "Friedreich ataxia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FRDA2", "Friedreich ataxia 2"], "xref": ["DOID:0111219", "GARD:0015340", "MEDGEN:356134", "MESH:C566594", "OMIM:601992", "UMLS:C1865981"]}
{"category": ["biolink:Disease"], "description": "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.", "id": "MONDO:0011176", "name": "Intestinal hypomagnesemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HOMG1", "HSH", "PHSH", "TRPM6 familial primary hypomagnesemia", "TRPM6 primary hypomagnesemia", "familial primary hypomagnesemia caused by mutation in TRPM6", "hypomagnesemia caused by selective magnesium malabsorption", "hypomagnesemia intestinal type 1", "hypomagnesemic tetany", "intestinal hypomagnesemia type 1", "intestinal hypomagnesemia with secondary hypocalcemia", "primary hypomagnesemia caused by mutation in TRPM6", "primary hypomagnesemia with secondary hypocalcemia"], "xref": ["DOID:0060883", "GARD:0013072", "MEDGEN:355596", "MESH:C566593", "OMIM:602014", "Orphanet:30924", "SCTID:190856003", "UMLS:C1865974"]}
{"category": ["biolink:Disease"], "description": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.", "id": "MONDO:0011177", "name": "Ectodermal dysplasia 4, hair/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT85 pure hair and nail ectodermal dysplasia", "ectodermal dysplasia 4, hair/nail type", "pure hair and nail ectodermal dysplasia caused by mutation in KRT85"], "xref": ["DOID:0111658", "GARD:0018062", "MEDGEN:870434", "MESH:C566592", "OMIM:602032", "UMLS:C4024880"]}
{"category": ["biolink:Disease"], "description": "A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.", "id": "MONDO:0011178", "name": "Infantile convulsions and choreoathetosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ICCA syndrome", "PKD/IC", "infantile convulsions and choreoathetosis", "paroxysmal kinesigenic dyskinesia and infantile convulsions"], "xref": ["GARD:0008553", "MEDGEN:356123", "MESH:C535522", "NCIT:C126650", "OMIM:602066", "Orphanet:31709", "SCTID:715534008", "UMLS:C1865926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011180", "name": "Broad terminal phalanges, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["broad terminal phalanges, familial"], "xref": ["MEDGEN:400879", "MESH:C566588", "OMIM:602071", "UMLS:C1865923"]}
{"category": ["biolink:Disease"], "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.", "id": "MONDO:0011181", "name": "Fibrosis of extraocular muscles, congenital, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PHOX2A congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A", "fibrosis of extraocular muscles, congenital, 2", "fibrosis of extraocular muscles, congenital, type 2"], "xref": ["DOID:0081016", "GARD:0015341", "MEDGEN:356119", "MESH:C566587", "OMIM:602078", "UMLS:C1865915"]}
{"category": ["biolink:Disease"], "description": "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.", "id": "MONDO:0011182", "name": "Trimethylaminuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fish odor syndrome", "fish odour syndrome", "fish-odor syndrome", "trimethylaminuria", "trimethylaminuria (disease)"], "xref": ["GARD:0027797", "HP:0003614", "ICD10CM:E72.52", "MEDGEN:83350", "Orphanet:35056", "SCTID:237959005", "UMLS:C0342739", "icd11.foundation:685690588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011183", "name": "Paget disease of bone 2, early-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Paget disease of bone 2, early-onset"], "xref": ["DOID:0081365", "GARD:0024779", "MEDGEN:899166", "OMIM:602080", "UMLS:C4085251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011184", "name": "Childhood apraxia of speech", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAS", "childhood apraxia of speech", "developmental verbal dyspraxia", "speech and language disorder with orofacial dyspraxia", "speech-language disorder type 1"], "xref": ["DOID:0111275", "GARD:0012889", "ICD9:315.39", "MEDGEN:152917", "OMIM:602081", "Orphanet:209908", "SCTID:229703009", "UMLS:C0750927", "icd11.foundation:1590154825"]}
{"category": ["biolink:Disease"], "description": "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.", "id": "MONDO:0011185", "name": "Thiel-behnke corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TBCD", "Thiel-Behnke corneal dystrophy", "Waardenburg-Jonker corneal dystrophy", "anterior limiting membrane dystrophy type 2", "anterior limiting membrane dystrophy type II", "corneal dystrophy of Bowman layer type 2", "corneal dystrophy of Bowman layer type II", "curly fiber corneal dystrophy", "curly fibre corneal dystrophy", "honeycomb corneal dystrophy"], "xref": ["DOID:0060455", "GARD:0009275", "ICD9:371.52", "MEDGEN:287070", "MESH:C535942", "OMIM:602082", "Orphanet:98960", "SCTID:417065002", "UMLS:C1562894", "icd11.foundation:2082568100"]}
{"category": ["biolink:Disease"], "description": "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.", "id": "MONDO:0011186", "name": "Usher syndrome type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1F", "Usher syndrome type 1F"], "xref": ["DOID:0110832", "GARD:0010043", "MEDGEN:356393", "OMIM:602083", "UMLS:C1865885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011187", "name": "Polydactyly, postaxial, type a2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A2"], "xref": ["GARD:0018173", "MEDGEN:356392", "MESH:C566585", "OMIM:602085", "UMLS:C1865883"]}
{"category": ["biolink:Disease"], "description": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.", "id": "MONDO:0011188", "name": "Arrhythmogenic right ventricular dysplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC3", "ARVD3", "arrhythmogenic right ventricular cardiomyopathy 3", "arrhythmogenic right ventricular dysplasia type 3"], "xref": ["DOID:0110072", "GARD:0024780", "MEDGEN:356108", "MESH:C566584", "OMIM:602086", "UMLS:C1865882"]}
{"category": ["biolink:Disease"], "description": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.", "id": "MONDO:0011189", "name": "Arrhythmogenic right ventricular dysplasia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC4", "ARVD4", "arrhythmogenic right ventricular cardiomyopathy 4", "arrhythmogenic right ventricular dysplasia type 4", "fanilial arrhythmogenic right ventricular dysplasia 4"], "xref": ["DOID:0110073", "GARD:0024781", "MEDGEN:356107", "MESH:C566583", "OMIM:602087", "UMLS:C1865881"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.", "id": "MONDO:0011190", "name": "Nephronophthisis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["INVS nephronophthisis (disease)", "NPH2", "NPHP2", "nephronophthisis (disease) caused by mutation in INVS", "nephronophthisis 2", "nephronophthisis 2, infantile", "nephronophthisis type 2"], "xref": ["DOID:0111113", "GARD:0018182", "MEDGEN:355574", "MESH:C566582", "OMIM:602088", "Orphanet:93591", "UMLS:C1865872"]}
{"category": ["biolink:Disease"], "description": "Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.", "id": "MONDO:0011191", "name": "Capillary infantile hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["HCI", "hemangioma, capillary infantile", "hemangioma, capillary infantile, somatic", "hemangioma, hereditary capillary", "hereditary capillary infantile hemangioma"], "xref": ["MEDGEN:355573", "MESH:C535860", "NCIT:C6645", "OMIM:602089", "Orphanet:464293", "Orphanet:91415", "UMLS:C1865871"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.", "id": "MONDO:0011192", "name": "Autosomal recessive nonsyndromic hearing loss 18a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110473", "GARD:0022592", "MEDGEN:356389", "MESH:C566580", "OMIM:602092", "UMLS:C1865870"]}
{"category": ["biolink:Disease"], "description": "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.", "id": "MONDO:0011193", "name": "Cone dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GUCA1A cone dystrophy", "cone dystrophy 3", "cone dystrophy caused by mutation in GUCA1A", "cone dystrophy type 3", "cone dystrophy-3"], "xref": ["DOID:0080314", "GARD:0015342", "MEDGEN:356104", "OMIM:602093", "UMLS:C1865869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011194", "name": "Alzheimer disease 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD5", "Alzheimer disease 5", "Alzheimer disease type 5", "Alzheimer disease-5", "Alzheimer's disease type 5"], "xref": ["DOID:0110037", "GARD:0016507", "MEDGEN:356103", "MESH:C566578", "OMIM:602096", "UMLS:C1865868"]}
{"category": ["biolink:Disease"], "description": "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.", "id": "MONDO:0011195", "name": "Usher syndrome type 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1E"], "xref": ["DOID:0110833", "GARD:0005439", "MEDGEN:400865", "OMIM:602097", "UMLS:C1865865"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.", "id": "MONDO:0011196", "name": "Amyotrophic lateral sclerosis type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS5", "SPG11 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis caused by mutation in SPG11"], "xref": ["DOID:0060197", "GARD:0015343", "MEDGEN:356388", "MESH:C566576", "OMIM:602099", "UMLS:C1865864"]}
{"category": ["biolink:Disease"], "description": "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.", "id": "MONDO:0011197", "name": "Hereditary thermosensitive neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016731", "MEDGEN:355568", "MESH:C566575", "OMIM:602107", "Orphanet:84093", "SCTID:715645004", "UMLS:C1865856", "icd11.foundation:1124144144"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.", "id": "MONDO:0011198", "name": "Spondyloepimetaphyseal dysplasia, missouri type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD type 2", "SEMD, Missouri type", "spondyloepimetaphyseal dysplasia type 2", "spondyloepimetaphyseal dysplasia, Missouri type"], "xref": ["DOID:0080030", "GARD:0010618", "MEDGEN:355563", "OMIM:602111", "Orphanet:93356", "SCTID:719171005", "UMLS:C1865832", "icd11.foundation:1593289281"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011199", "name": "Nephropathy, progressive tubulointerstitial, with cholestatic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephropathy, progressive tubulointerstitial, with cholestatic liver disease"], "xref": ["GARD:0015344", "MEDGEN:355562", "MESH:C566573", "OMIM:602114", "UMLS:C1865831"]}
{"category": ["biolink:Disease"], "description": "A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.", "id": "MONDO:0011200", "name": "Torsion dystonia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["dystonia-7, torsion", "torsion dystonia type 7"], "xref": ["DOID:0090040", "GARD:0007782", "MEDGEN:355560", "MESH:C566572", "NANDO:1200518", "OMIM:602124", "Orphanet:93963", "UMLS:C1865818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011201", "name": "Tremor, hereditary essential, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ETM2", "essential tremor, hereditary, 2", "tremor, hereditary essential, 2"], "xref": ["DOID:0111429", "MEDGEN:356087", "MESH:C536546", "OMIM:602134", "UMLS:C1865810"]}
{"category": ["biolink:Disease"], "description": "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.", "id": "MONDO:0011202", "name": "Rhyns syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RHYNS syndrome", "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"], "xref": ["GARD:0009681", "MEDGEN:356371", "MESH:C537612", "OMIM:602152", "Orphanet:140976", "SCTID:723999009", "UMLS:C1865794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011203", "name": "Pierre robin sequence with pectus excavatum and rib and scapular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Pierre Robin sequence with pectus excavatum and rib and scapular anomalies"], "xref": ["GARD:0010090", "MEDGEN:355549", "MESH:C535775", "OMIM:602196", "UMLS:C1865783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011205", "name": "Medium chain 3-ketoacyl-coa thiolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["medium chain 3-ketoacyl-Coa thiolase deficiency"], "xref": ["GARD:0027053", "MEDGEN:356367", "MESH:C566566", "OMIM:602199", "UMLS:C1865781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011206", "name": "Ventriculomegaly with defects of the radius and kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ventriculomegaly with defects of the radius and kidney"], "xref": ["MEDGEN:400843", "MESH:C566565", "OMIM:602200", "UMLS:C1865780"]}
{"category": ["biolink:Disease"], "description": "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.", "id": "MONDO:0011208", "name": "Malignant atrophic papulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Degos Disease", "Degos disease", "Kohlmeier-Degos disease", "Kohlmeier-Degos-Delort-Tricort syndrome", "Köhlmeier-Degos disease", "Köhlmeier-Degos-Delort-Tricort syndrome", "malignant atrophic papulosis", "papulosis atrophican maligna"], "xref": ["GARD:0006249", "ICD9:447.8", "MEDGEN:113138", "MESH:D054853", "MedDRA:10064281", "NCIT:C84835", "NORD:1036", "OMIM:602248", "Orphanet:679", "SCTID:400171002", "UMLS:C0221011", "icd11.foundation:792094526"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011209", "name": "Progeroid facial appearance with hand anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["progeroid facial appearance with hand anomalies"], "xref": ["GARD:0027798", "MEDGEN:356343", "MESH:C566563", "OMIM:602249", "UMLS:C1865699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011210", "name": "Mitochondrial intermembrane space protein tim12, yeast, homolog of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mitochondrial intermembrane space protein Tim12, yeast, homolog of"], "xref": ["MEDGEN:400824", "OMIM:602252", "UMLS:C1865698"]}
{"category": ["biolink:Disease"], "description": "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.", "id": "MONDO:0011211", "name": "Axial spondylometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112299", "GARD:0008720", "MEDGEN:356065", "MESH:C535795", "OMIM:602271", "Orphanet:168549", "UMLS:C1865695", "icd11.foundation:834893572"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011212", "name": "Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth"], "xref": ["MEDGEN:356334", "MESH:C566560", "OMIM:602340", "UMLS:C1865645"]}
{"category": ["biolink:Disease"], "description": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.", "id": "MONDO:0011213", "name": "Pierpont syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pierpont syndrome", "plantar lipomatosis-facial dysmorphism-developmental delay syndrome", "plantar lipomatosis-unusual facies-developmental delay syndrome"], "xref": ["DOID:0081362", "GARD:0017885", "MEDGEN:356049", "MESH:C566559", "OMIM:602342", "Orphanet:487825", "UMLS:C1865644"]}
{"category": ["biolink:Disease"], "description": "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.", "id": "MONDO:0011214", "name": "Progressive familial intrahepatic cholestasis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABCB4 progressive familial intrahepatic cholestasis", "MDR3 Deficiency", "PFIC3", "cholestasis, progressive familial intrahepatic 3", "cholestasis, progressive familial intrahepatic, type 3", "progressive familial intrahepatic cholestasis caused by mutation in ABCB4"], "xref": ["DOID:0070223", "GARD:0001289", "MEDGEN:356333", "MESH:C535935", "NANDO:1201045", "NORD:1416", "OMIM:602347", "Orphanet:79305", "UMLS:C1865643", "icd11.foundation:1276600959"]}
{"category": ["biolink:Disease"], "description": "A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.", "id": "MONDO:0011215", "name": "Osteocraniostenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Osteocraniosplenic syndrome", "gracile bone dysplasia", "osteocraniostenosis"], "xref": ["GARD:0003396", "MEDGEN:356331", "MESH:C537291", "OMIM:602361", "Orphanet:2763", "SCTID:722109008", "UMLS:C1865639", "icd11.foundation:539409723"]}
{"category": ["biolink:Disease"], "description": "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.", "id": "MONDO:0011216", "name": "Hemochromatosis type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HFE2A", "HJV hemochromatosis type 2", "hemochromatosis type 2 caused by mutation in HJV", "hemochromatosis type 2A"], "xref": ["DOID:0111027", "GARD:0024782", "MEDGEN:356321", "OMIM:602390", "UMLS:C1865614"]}
{"category": ["biolink:Disease"], "description": "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.", "id": "MONDO:0011217", "name": "Desmosterolosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["desmosterolosis"], "xref": ["DOID:0070654", "GARD:0010283", "ICD9:272.8", "MEDGEN:400801", "MESH:C566555", "OMIM:602398", "Orphanet:35107", "SCTID:709490002", "UMLS:C1865596", "icd11.foundation:2108931494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011218", "name": "Autosomal recessive congenital ichthyosis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFAH syndrome", "IHS", "autosomal recessive congenital ichthyosis 11", "autosomal recessive congenital ichthyosis type 11", "hypotrichosis-congenital ichthyosis syndrome", "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis", "ichthyosis, congenital, autosomal recessive type 11", "ichthyosis-follicular atrophoderma-hypotrichosis syndrome", "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome", "ichthyosis-hypotrichosis syndrome"], "xref": ["DOID:0060720", "GARD:0010116", "MEDGEN:332073", "MESH:C536273", "OMIM:602400", "Orphanet:91132", "UMLS:C1835851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011219", "name": "Fried's tooth and nail syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111661", "GARD:0016903", "MEDGEN:764338", "OMIM:602401", "Orphanet:99672", "SCTID:239020008", "UMLS:C3551424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011220", "name": "Parkinson disease 3, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PARK3", "Parkinson disease 3, autosomal dominant"], "xref": ["DOID:0111250", "GARD:0008578", "MEDGEN:355499", "MESH:C566552", "OMIM:602404", "UMLS:C1865581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011221", "name": "Weyers ulnar ray/oligodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Weyers ulnar ray/oligodactyly syndrome"], "xref": ["MEDGEN:356030", "MESH:C536696", "OMIM:602418", "UMLS:C1865566"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.", "id": "MONDO:0011223", "name": "Amyotrophic lateral sclerosis type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALS 4", "ALS4", "SETX amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 4, juvenile", "amyotrophic lateral sclerosis caused by mutation in SETX", "dHMN with upper motor neuron signs", "distal hereditary motor neuropathy with upper motor neuron signs"], "xref": ["DOID:0060196", "GARD:0010502", "MEDGEN:355983", "MESH:C566550", "OMIM:602433", "Orphanet:357043", "UMLS:C1865409"]}
{"category": ["biolink:Disease"], "description": "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.", "id": "MONDO:0011224", "name": "Monomelic amyotrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hirayama disease", "JMADUE", "benign focal amyotrophy", "juvenile muscular atrophy of distal upper extremity", "juvenile muscular atrophy of the distal upper limb"], "xref": ["EFO:1001989", "GARD:0009697", "MEDGEN:356265", "MESH:C538253", "MedDRA:10069681", "OMIM:602440", "Orphanet:65684", "UMLS:C1865384", "icd11.foundation:2090347823"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.", "id": "MONDO:0011225", "name": "Severe combined immunodeficiency due to dclre1c deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DCLRE1C severe combined immunodeficiency (disease)", "SCID due to ARTEMIS deficiency", "SCID due to DCLRE1C deficiency", "SCID due to artemis deficiency", "SCID, Athabascan type", "SCID, Athabaskan type", "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C", "severe combined immunodeficiency due to ARTEMIS deficiency", "severe combined immunodeficiency due to DCLRE1C deficiency", "severe combined immunodeficiency due to artemis deficiency"], "xref": ["DOID:0060006", "DOID:0090012", "GARD:0009987", "MEDGEN:355454", "OMIM:602450", "Orphanet:275", "SCTID:715982006", "UMLS:C1865370"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.", "id": "MONDO:0011226", "name": "Autosomal dominant nonsyndromic hearing loss 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110546", "GARD:0018109", "MEDGEN:355451", "MESH:C566545", "OMIM:602459", "UMLS:C1865366"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011227", "name": "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SAMS syndrome", "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities"], "xref": ["GARD:0017633", "MEDGEN:355971", "MESH:C566544", "OMIM:602471", "Orphanet:397623", "SCTID:417081007", "UMLS:C1865361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011228", "name": "Creases, infra-auricular cutaneous, with tall stature and advanced bone age", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["creases, infra-auricular cutaneous, with tall stature and advanced bone age"], "xref": ["MEDGEN:356259", "MESH:C566543", "OMIM:602472", "UMLS:C1865360"]}
{"category": ["biolink:Disease"], "description": "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.", "id": "MONDO:0011229", "name": "Ethylmalonic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060640", "GARD:0002198", "MEDGEN:355966", "MESH:C535737", "OMIM:602473", "Orphanet:51188", "SCTID:723307008", "UMLS:C1865349", "icd11.foundation:1966714550"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.", "id": "MONDO:0011230", "name": "Ossification of the posterior longitudinal ligament of the spine", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPLL", "ossification of Posterior longitudinal ligament"], "xref": ["DOID:0060887", "EFO:0005895", "GARD:0027799", "MEDGEN:355447", "MESH:C537143", "NANDO:1200371", "NCIT:C84975", "OMIM:602475", "SCTID:90448008", "UMLS:C1865343"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011231", "name": "Febrile seizures, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["FEB2", "febrile seizures, familial, 2", "generalised epilepsy with febrile seizures plus, type 11", "generalized epilepsy with febrile seizures plus, type 11"], "xref": ["DOID:0111310", "MEDGEN:355446", "MESH:C566541", "UMLS:C1865342"]}
{"category": ["biolink:Disease"], "description": "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.", "id": "MONDO:0011232", "name": "Migraine, familial hemiplegic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATP1A2 familial or sporadic hemiplegic migraine", "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2", "migraine, familial hemiplegic, 2", "migraine, familial hemiplegic, type 2"], "xref": ["DOID:0111182", "GARD:0010095", "MEDGEN:355962", "MESH:C537246", "OMIM:602481", "UMLS:C1865322"]}
{"category": ["biolink:Disease"], "description": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.", "id": "MONDO:0011233", "name": "Axenfeld-rieger syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Axenfeld-Rieger syndrome caused by mutation in FOXC1", "Axenfeld-Rieger syndrome type 3", "FOXC1 Axenfeld-Rieger syndrome", "RIEG3", "anterior chamber cleavage syndrome"], "xref": ["DOID:0110122", "GARD:0009626", "ICD9:743.44", "MEDGEN:394534", "OMIM:602482", "SCTID:22155002", "UMLS:C2678503"]}
{"category": ["biolink:Disease"], "description": "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.", "id": "MONDO:0011234", "name": "Auriculocondylar syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Auriculocondylar syndrome 1", "Auriculocondylar syndrome type 1", "GNAI3 auriculocondylar syndrome", "auriculocondylar syndrome caused by mutation in GNAI3"], "xref": ["GARD:0015346", "MEDGEN:1639644", "OMIM:602483", "UMLS:C4551996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011235", "name": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ray-Peterson-Scott syndrome"], "xref": ["GARD:0004269", "MEDGEN:400731", "OMIM:602484", "Orphanet:2840", "UMLS:C1865294"]}
{"category": ["biolink:Disease"], "description": "A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals.", "id": "MONDO:0011236", "name": "Hyperinsulinemic hypoglycemia, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GCK-related hyperinsulinism", "HHF3", "congenital glucokinase-related hyperinsulinism", "glucokinase-related hyperinsulinemic hypoglycemia", "hyperinsulinemic hypoglycemia familial 3", "hyperinsulinemic hypoglycemia, familial, 3", "hyperinsulinemic hypoglycemia, familial, type 3"], "xref": ["DOID:0070216", "GARD:0002818", "MEDGEN:355435", "MESH:C538374", "OMIM:602485", "Orphanet:79299", "SCTID:717182006", "UMLS:C1865290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011238", "name": "Chondrodysplasia punctata, brachytelephalangic, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chondrodysplasia punctata, brachytelephalangic, autosomal"], "xref": ["GARD:0015347", "MEDGEN:337102", "OMIM:602497", "UMLS:C1844853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011239", "name": "Colobomatous macrophthalmia-microcornea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MACOM syndrome"], "xref": ["GARD:0017844", "MEDGEN:400728", "MESH:C566533", "OMIM:602499", "Orphanet:468672", "UMLS:C1865286"]}
{"category": ["biolink:Disease"], "description": "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.", "id": "MONDO:0011240", "name": "Megalencephaly-capillary malformation-polymicrogyria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCAP", "MCM", "MCMTC", "Megalencephaly-Capillary Malformation", "macrocephaly-capillary malformation syndrome", "macrocephaly-cutis marmorata telangiectatica congenita syndrome", "megalencephaly-capillary malformation syndrome", "megalencephaly-capillary malformation-polymicrogyria syndrome", "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic", "megalencephaly-cutis marmorata telangiectatica congenita syndrome"], "xref": ["GARD:0006950", "ICD9:759.89", "MEDGEN:355421", "MESH:C536142", "NANDO:2200823", "NORD:1423", "OMIM:602501", "Orphanet:60040", "SCTID:703370002", "UMLS:C1865285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011241", "name": "Pseudoacromegaly with severe insulin resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pseudoacromegaly with severe insulin resistance"], "xref": ["MEDGEN:400727", "MESH:C566531", "OMIM:602511", "UMLS:C1865284"]}
{"category": ["biolink:Disease"], "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.", "id": "MONDO:0011242", "name": "Bartter disease type 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BARTS4A", "BSND", "BSND Bartter syndrome", "Bartter disease type 4a", "Bartter syndrome caused by mutation in BSND"], "xref": ["DOID:0110145", "GARD:0015348", "MEDGEN:355430", "OMIM:602522", "SCTID:717791000", "UMLS:C1865270"]}
{"category": ["biolink:Disease"], "description": "Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.", "id": "MONDO:0011243", "name": "Grange syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["grange occlusive arterial syndrome", "grange syndrome", "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome"], "xref": ["GARD:0016697", "MEDGEN:355427", "MESH:C566529", "OMIM:602531", "Orphanet:79094", "SCTID:717824007", "UMLS:C1865267", "icd11.foundation:729368905"]}
{"category": ["biolink:Disease"], "description": "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.", "id": "MONDO:0011244", "name": "Marshall-smith syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marshall-Smith syndrome", "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"], "xref": ["DOID:0050858", "GARD:0006985", "ICD9:759.89", "MEDGEN:75551", "MESH:C536026", "OMIM:602535", "Orphanet:561", "SCTID:73284007", "UMLS:C0265211", "icd11.foundation:417951600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011245", "name": "Ichthyosis, hystrix-like, with hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HID syndrome", "hystrix-like ichthyosis with deafness", "ichthyosis, hystrix-like, with deafness"], "xref": ["GARD:0015349", "MEDGEN:355410", "MESH:C566528", "OMIM:602540", "UMLS:C1865234"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011246", "name": "Megaconial type congenital muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital megaconial myopathy", "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect", "congenital muscular dystrophy with mitochondrial structural abnormalities", "megaconial congenital muscular dystrophy", "megaconial type congenital muscular dystrophy"], "xref": ["DOID:0110632", "GARD:0010317", "MEDGEN:355943", "MESH:C566527", "OMIM:602541", "Orphanet:280671", "UMLS:C1865233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011247", "name": "Jejunal atresia with renal adysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["jejunal atresia with renal adysplasia"], "xref": ["MEDGEN:400708", "MESH:C537567", "OMIM:602551", "UMLS:C1865209"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.", "id": "MONDO:0011248", "name": "Distal monosomy 13q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["13q32 deletion", "deletion 13q32", "distal 13q deletion", "distal monosomy type 13q", "monosomy 13q32", "telomeric deletion13q"], "xref": ["GARD:0016571", "MEDGEN:355405", "MESH:C566526", "OMIM:602553", "Orphanet:1590", "SCTID:763527007", "UMLS:C1865208"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.", "id": "MONDO:0011249", "name": "Torsion dystonia with onset in infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0090058", "GARD:0009631", "MEDGEN:400706", "MESH:C536969", "OMIM:602554", "UMLS:C1865205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011250", "name": "Microcephaly, macrotia, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, macrotia, and intellectual disability", "microcephaly, macrotia, and mental retardation"], "xref": ["MEDGEN:355403", "MESH:C566525", "OMIM:602555", "UMLS:C1865204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011251", "name": "Facial dysmorphism, cleft palate, hearing loss, and camptodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["facial dysmorphism, cleft palate, hearing loss, and camptodactyly"], "xref": ["MEDGEN:400705", "MESH:C566524", "OMIM:602556", "UMLS:C1865203"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.", "id": "MONDO:0011252", "name": "Spondyloepimetaphyseal dysplasia, shohat type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD, Shohat type", "spondyloepimetaphyseal dysplasia, Shohat type"], "xref": ["GARD:0004980", "MEDGEN:400703", "MESH:C566523", "OMIM:602557", "Orphanet:93352", "SCTID:719201004", "UMLS:C1865185", "icd11.foundation:1389783101"]}
{"category": ["biolink:Disease"], "description": "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.", "id": "MONDO:0011253", "name": "Craniomicromelic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["craniomicromelic syndrome"], "xref": ["GARD:0001583", "MEDGEN:355396", "MESH:C566522", "OMIM:602558", "Orphanet:1524", "SCTID:725098001", "UMLS:C1865184", "icd11.foundation:1734157428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011254", "name": "Brachydactyly, intraventricular septal defect, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachydactyly, intraventricular septal defect, and deafness"], "xref": ["MEDGEN:355395", "MESH:C566521", "OMIM:602561", "UMLS:C1865182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011255", "name": "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["macroblepharon-ectropion-hypertelorism-macrostomia syndrome"], "xref": ["GARD:0017547", "MEDGEN:355927", "MESH:C566520", "OMIM:602562", "Orphanet:357158", "UMLS:C1865181"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011256", "name": "Emphysema, congenital, with deafness, penoscrotal web, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["emphysema, congenital, with deafness, penoscrotal web, and intellectual disability", "emphysema, congenital, with deafness, penoscrotal web, and mental retardation"], "xref": ["MEDGEN:355926", "MESH:C566519", "OMIM:602564", "UMLS:C1865180"]}
{"category": ["biolink:Disease"], "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).", "id": "MONDO:0011257", "name": "Mpi-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IB", "CDG-Ib", "CDG1B", "MPI-CDG", "carbohydrate deficient glycoprotein syndrome type IB", "congenital disorder of glycosylation type 1b", "congenital disorder of glycosylation type IB", "phosphomannose isomerase deficiency"], "xref": ["DOID:0080554", "GARD:0009830", "ICD9:277.6", "MEDGEN:400692", "MESH:C535740", "OMIM:602579", "Orphanet:79319", "SCTID:124668009", "UMLS:C1865145", "icd11.foundation:803079134"]}
{"category": ["biolink:Disease"], "description": "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.", "id": "MONDO:0011258", "name": "Branchiootic syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EYA1 branchiootic syndrome", "branchiootic syndrome 1", "branchiootic syndrome caused by mutation in EYA1", "branchiootic syndrome type 1"], "xref": ["DOID:0061209", "GARD:0024783", "MEDGEN:351307", "OMIM:602588", "UMLS:C1865143"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.", "id": "MONDO:0011259", "name": "Retinitis pigmentosa 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP22", "retinitis pigmentosa 22", "retinitis pigmentosa type 22"], "xref": ["DOID:0110400", "GARD:0010393", "MEDGEN:854689", "OMIM:602594", "UMLS:C3887981"]}
{"category": ["biolink:Disease"], "description": "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0011260", "name": "Pancreatic lymphoma, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:predisposition", "mondo:rare"], "synonym": ["hereditary pancreas lymphoma", "pancreatic lymphoma, familial"], "xref": ["GARD:0024784", "MEDGEN:355383", "MESH:C566516", "OMIM:602596", "UMLS:C1865139"]}
{"category": ["biolink:Disease"], "description": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0011261", "name": "Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation", "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome"], "xref": ["DOID:0112294", "GARD:0016993", "MEDGEN:355919", "MESH:C566515", "OMIM:602611", "Orphanet:163649", "SCTID:718766002", "UMLS:C1865134"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).", "id": "MONDO:0011262", "name": "Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye"], "xref": ["GARD:0000216", "MEDGEN:355918", "MESH:C535876", "OMIM:602612", "Orphanet:1323", "SCTID:715986009", "UMLS:C1865133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011263", "name": "Skeletal dysplasia and progressive central nervous system degeneration, lethal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skeletal dysplasia and progressive central nervous system degeneration, lethal"], "xref": ["MEDGEN:400685", "MESH:C566514", "OMIM:602613", "UMLS:C1865117"]}
{"category": ["biolink:Disease"], "description": "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.", "id": "MONDO:0011264", "name": "Torsion dystonia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-THAP1", "DYT6", "THAP1 generalised isolated dystonia", "THAP1 generalized isolated dystonia", "generalised cervical and upper-limb-onset dystonia", "generalised isolated dystonia caused by mutation in THAP1", "generalized cervical and upper-limb-onset dystonia", "generalized isolated dystonia caused by mutation in THAP1", "idiopathic torsion dystonia of mixed type", "torsion dystonia type 6"], "xref": ["DOID:0090039", "GARD:0009630", "MEDGEN:236274", "MESH:C538003", "NANDO:1200517", "NCIT:C156361", "OMIM:602629", "Orphanet:98806", "SCTID:702448007", "UMLS:C1414216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011265", "name": "Tooth agenesis, selective, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STHAG2", "tooth agenesis, selective, 2"], "xref": ["GARD:0024785", "MEDGEN:400679", "MESH:C566513", "OMIM:602639", "UMLS:C1865092"]}
{"category": ["biolink:Disease"], "description": "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.", "id": "MONDO:0011266", "name": "Myotonic dystrophy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNBP myotonic dystrophy", "myotonic dystrophy caused by mutation in CNBP", "myotonic dystrophy type 2", "proximal myotonic dystrophy", "proximal myotonic myopathy", "ricker disease", "ricker syndrome"], "xref": ["DOID:0050759", "GARD:0009728", "ICD9:359.2", "MEDGEN:419137", "NCIT:C84680", "OMIM:602668", "Orphanet:606", "UMLS:C2931689", "icd11.foundation:1005849639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011267", "name": "Intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration", "mental retardation, severe, with spasticity and tapetoretinal degeneration"], "xref": ["MEDGEN:351159", "MESH:C566429", "OMIM:602685", "UMLS:C1864549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011268", "name": "Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["classical distal RTA", "classical distal renal tubular acidosis", "distal renal tubular acidosis 3, with or without sensorineural hearing loss", "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "renal tubular acidosis, distal, autosomal recessive", "type 1 RTA", "type 1 renal tubular acidosis"], "xref": ["DOID:0061166", "GARD:0015350", "MEDGEN:1732975", "OMIM:602722", "UMLS:C5399980"]}
{"category": ["biolink:Disease"], "description": "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.", "id": "MONDO:0011269", "name": "Psoriasis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CARD14 psoriasis", "psoriasis 2", "psoriasis caused by mutation in CARD14", "psoriasis type 2"], "xref": ["DOID:0080475", "MEDGEN:351141", "NANDO:2200443", "OMIM:602723", "UMLS:C1864497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011270", "name": "Prostate cancer, hereditary, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 8", "prostate cancer, hereditary, type 8"], "xref": ["GARD:0015351", "MEDGEN:400539", "MESH:C566426", "OMIM:602759", "UMLS:C1864472"]}
{"category": ["biolink:Disease"], "description": "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.", "id": "MONDO:0011271", "name": "Rigid spine muscular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["MDRS1", "RSMD1", "RSS", "SELENON rigid spine syndrome", "minicore myopathy, severe classic form", "multicore myopathy, severe classic form", "multiminicore disease, severe classic form", "muscular dystrophy, congenital, Eichsfeld type", "muscular dystrophy, congenital, merosin-positive, with early spine rigidity", "muscular dystrophy, rigid spine, 1", "myopathy, SEPN1-related", "rigid spine muscular dystrophy 1", "rigid spine muscular dystrophy type 1", "rigid spine syndrome caused by mutation in SELENON"], "xref": ["DOID:0110633", "GARD:0024786", "MEDGEN:98047", "NCIT:C126691", "OMIM:602771", "SCTID:240063002", "UMLS:C0410180"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.", "id": "MONDO:0011272", "name": "Retinitis pigmentosa 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EYS retinitis pigmentosa", "RP25", "retinitis pigmentosa 25", "retinitis pigmentosa caused by mutation in EYS", "retinitis pigmentosa type 25"], "xref": ["DOID:0110384", "GARD:0010384", "MEDGEN:350427", "MESH:C566425", "OMIM:602772", "UMLS:C1864446"]}
{"category": ["biolink:Disease"], "description": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).", "id": "MONDO:0011273", "name": "H syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Asrar Facharzt Haque syndrome", "H syndrome"], "xref": ["DOID:0111278", "GARD:0010239", "MEDGEN:400532", "MESH:C535391", "MESH:C538322", "NANDO:2200457", "OMIM:602782", "Orphanet:168569", "SCTID:711159002", "UMLS:C1864445", "icd11.foundation:107155297"]}
{"category": ["biolink:Disease"], "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.", "id": "MONDO:0011274", "name": "Muenke syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FGFR3-related craniosynostosis", "MNKES", "Muenke syndrome", "craniosynostosis - dysmorphism - brachydactyly", "craniosynostosis brachydactyly", "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "craniosynostosis-dysmorphism-brachydactyly syndrome", "glass-chapman-hockley syndrome"], "xref": ["DOID:0060703", "GARD:0007097", "MEDGEN:355217", "MESH:C537369", "NCIT:C84904", "OMIM:602849", "Orphanet:1535", "Orphanet:53271", "SCTID:440350001", "SCTID:720814001", "UMLS:C1864436", "icd11.foundation:1860572017"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.", "id": "MONDO:0011275", "name": "Acromesomelic dysplasia 1, maroteaux type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acromesomelic dysplasia 1, Maroteaux type", "acromesomelic dysplasia, Maroteaux type"], "xref": ["DOID:0080050", "GARD:0000507", "MEDGEN:355199", "MESH:C535661", "OMIM:602875", "Orphanet:40", "SCTID:718559000", "UMLS:C1864356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011276", "name": "Orofacial cleft 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OFC2", "orofacial cleft 2"], "xref": ["DOID:0080396", "MEDGEN:400499", "MESH:C566419", "OMIM:602966", "UMLS:C1864323"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.", "id": "MONDO:0011279", "name": "Autosomal recessive nonsyndromic hearing loss 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110472", "GARD:0022593", "MEDGEN:355180", "MESH:C566418", "OMIM:603010", "UMLS:C1864276"]}
{"category": ["biolink:Disease"], "description": "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.", "id": "MONDO:0011281", "name": "Congenital myasthenic syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CMS5", "COLQ congenital myasthenic syndrome", "EAD", "Engel congenital myasthenic syndrome", "congenital myasthenic syndrome 5", "congenital myasthenic syndrome caused by mutation in COLQ", "congenital myasthenic syndrome type 5", "myasthenic syndrome, congenital, type 5"], "xref": ["DOID:0110667", "GARD:0018210", "MEDGEN:400481", "MESH:C566415", "NANDO:1201056", "NCIT:C129304", "OMIM:603034", "Orphanet:98915", "UMLS:C1864233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011282", "name": "Tumor suppressor gene on chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nonsmall cell lung cancer", "tumor suppressor Gene on chromosome type 11", "tumor suppressor gene on chromosome 11", "tumour suppressor Gene on chromosome type 11"], "xref": ["MEDGEN:355171", "OMIM:603040", "UMLS:C1864232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011283", "name": "Mitochondrial dna depletion syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial DNA depletion syndrome 1", "mitochondrial DNA depletion syndrome type 1"], "xref": ["DOID:0080119", "GARD:0024787", "MEDGEN:1631838", "OMIM:603041", "UMLS:C4551995"]}
{"category": ["biolink:Disease"], "description": "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)", "id": "MONDO:0011284", "name": "Astigmatism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["astigmatism", "astigmatism (disease)"], "xref": ["CSP:1116-1831", "DOID:11782", "HP:0000483", "ICD10CM:H52.2", "ICD9:367.2", "ICD9:367.20", "MEDGEN:2473", "MESH:D001251", "OMIM:603047", "SCTID:82649003", "UMLS:C0004106", "icd11.foundation:402558626"]}
{"category": ["biolink:Disease"], "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.", "id": "MONDO:0011285", "name": "Age related macular degeneration 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD1", "age related macular degeneration type 1", "macular Degeneration, age-related, type 1", "macular degeneration, age-related, reduced risk of"], "xref": ["DOID:0110014", "GARD:0024788", "MEDGEN:400475", "MESH:C566411", "OMIM:603075", "UMLS:C1864205"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.", "id": "MONDO:0011286", "name": "Autosomal recessive nonsyndromic hearing loss 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110468", "GARD:0022594", "MEDGEN:350361", "MESH:C566410", "OMIM:603098", "UMLS:C1864199"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).", "id": "MONDO:0011287", "name": "Craniosynostosis-anal anomalies-porokeratosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAP syndrome", "CDAGS syndrome"], "xref": ["GARD:0009506", "MEDGEN:351066", "MESH:C536789", "OMIM:603116", "Orphanet:85199", "SCTID:720812002", "UMLS:C1864186"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011288", "name": "Spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:351065", "MESH:C566409", "OMIM:603117", "UMLS:C1864185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011289", "name": "Apraxia of eyelid opening", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["apraxia of eyelid opening"], "xref": ["MEDGEN:350360", "OMIM:603119", "UMLS:C1864184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011290", "name": "Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability", "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation"], "xref": ["MEDGEN:350359", "MESH:C566408", "OMIM:603133", "UMLS:C1864183"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).", "id": "MONDO:0011291", "name": "Alg6-congenital disorder of glycosylation 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG6 congenital disorder of glycosylation", "ALG6-CDG (CDG-Ic)", "ALG6-CDG1C", "ALG6-congenital disorder of glycosylation 1C", "CDG syndrome type Ic", "CDG-Ic", "CDG1C", "CDGIc", "carbohydrate deficient glycoprotein syndrome type Ic", "congenital disorder of glycosylation caused by mutation in ALG6", "congenital disorder of glycosylation type 1C", "congenital disorder of glycosylation type Ic", "glucosyltransferase 1 deficiency"], "xref": ["DOID:0080555", "GARD:0009829", "MEDGEN:443952", "MESH:C535741", "NCIT:C126869", "OMIM:603147", "Orphanet:79320", "SCTID:709412006", "UMLS:C2930997"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.", "id": "MONDO:0011294", "name": "Schizophrenia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD5", "schizophrenia 5"], "xref": ["DOID:0070081", "MEDGEN:350351", "OMIM:603175", "UMLS:C1864153"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.", "id": "MONDO:0011295", "name": "Schizophrenia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD7", "schizophrenia 7"], "xref": ["DOID:0070083", "MEDGEN:350350", "OMIM:603176", "UMLS:C1864152"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.", "id": "MONDO:0011296", "name": "Meckel syndrome, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MKS2", "Meckel syndrome caused by mutation in TMEM216", "Meckel syndrome, type 2", "Meckel-Gruber syndrome, type 2", "TMEM216 Meckel syndrome"], "xref": ["DOID:0070116", "GARD:0008743", "MEDGEN:351059", "MESH:C536131", "OMIM:603194", "UMLS:C1864148"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.", "id": "MONDO:0011297", "name": "Autosomal dominant nocturnal frontal lobe epilepsy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ENFL2", "autosomal dominant nocturnal frontal lobe epilepsy type 2", "epilepsy, nocturnal frontal lobe, type 2"], "xref": ["DOID:0060683", "GARD:0015352", "MEDGEN:351053", "MESH:C566400", "OMIM:603204", "UMLS:C1864125"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.", "id": "MONDO:0011298", "name": "Schizophrenia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD8", "schizophrenia 8"], "xref": ["DOID:0070084", "MEDGEN:400456", "OMIM:603206", "UMLS:C1864124"]}
{"category": ["biolink:Disease"], "description": "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.", "id": "MONDO:0011299", "name": "Huntington disease-like 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDL1", "HLN1", "Huntington disease-like 1", "Huntington disease-like type 1", "Huntington-like neurodegenerative disorder 1", "PRNP neurodegenerative disease with chorea", "early-onset prion disease with prominent psychiatric features", "neurodegenerative disease with chorea caused by mutation in PRNP"], "xref": ["DOID:0090103", "GARD:0016985", "MEDGEN:355137", "MESH:C566398", "OMIM:603218", "Orphanet:157941", "UMLS:C1864112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011300", "name": "Myopia 3, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP3", "myopia 3, autosomal dominant", "myopia-3"], "xref": ["MEDGEN:400454", "MESH:C566397", "OMIM:603221", "UMLS:C1864111"]}
{"category": ["biolink:Disease"], "description": "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.", "id": "MONDO:0011301", "name": "Pseudohypoparathyroidism type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pseudohypoparathyroidism Ib"], "xref": ["DOID:0080222", "GARD:0010680", "MEDGEN:350343", "MESH:C548075", "NANDO:1201076", "OMIM:603233", "Orphanet:94089", "UMLS:C1864100", "icd11.foundation:440485628"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.", "id": "MONDO:0011303", "name": "Focal segmental glomerulosclerosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["ACTN4 focal segmental glomerulosclerosis", "FSGS1", "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis 1", "focal segmental glomerulosclerosis caused by mutation in ACTN4", "focal segmental glomerulosclerosis type 1"], "xref": ["DOID:0111128", "GARD:0015353", "MEDGEN:1636833", "MESH:C538457", "OMIM:603278", "Orphanet:93213", "UMLS:C4551527"]}
{"category": ["biolink:Disease"], "description": "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.", "id": "MONDO:0011304", "name": "Cerebral cavernous malformation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCM2", "CCM2 familial cerebral cavernous malformation", "cerebral cavernous malformation 2", "cerebral cavernous malformation type 2", "cerebral cavernous malformations type 2", "cerebral cavernous malformations-2", "familial cerebral cavernous malformation caused by mutation in CCM2"], "xref": ["DOID:0060670", "GARD:0018313", "MEDGEN:400438", "MESH:C566394", "OMIM:603284", "UMLS:C1864041"]}
{"category": ["biolink:Disease"], "description": "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.", "id": "MONDO:0011305", "name": "Cerebral cavernous malformation 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCM3", "PDCD10 familial cerebral cavernous malformation", "cerebral cavernous malformation 3", "cerebral cavernous malformation type 3", "cerebral cavernous malformations 3", "cerebral cavernous malformations type 3", "cerebral cavernous malformations-3", "familial cerebral cavernous malformation caused by mutation in PDCD10"], "xref": ["DOID:0060671", "GARD:0018314", "MEDGEN:355121", "MESH:C566393", "OMIM:603285", "UMLS:C1864040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011306", "name": "Muscular dystrophy, congenital, with cerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["muscular dystrophy, congenital, with cerebellar atrophy"], "xref": ["MEDGEN:351027", "MESH:C566392", "OMIM:603323", "UMLS:C1864028"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.", "id": "MONDO:0011307", "name": "Schizophrenia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD2", "schizophrenia 2"], "xref": ["DOID:0070078", "MEDGEN:350323", "OMIM:603342", "UMLS:C1864010"]}
{"category": ["biolink:Disease"], "description": "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).", "id": "MONDO:0011308", "name": "Gracile syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fellman disease", "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome", "gracile syndrome"], "xref": ["DOID:0111455", "GARD:0000001", "ICD9:759.89", "MEDGEN:400428", "MESH:C537934", "OMIM:603358", "Orphanet:53693", "SCTID:703388005", "UMLS:C1864002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011309", "name": "Familial gestational hyperthyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081102", "GARD:0016913", "ICD9:242.80", "ICD9:648.10", "MEDGEN:355106", "MESH:C566384", "OMIM:603373", "Orphanet:99819", "SCTID:703309000", "UMLS:C1863959", "icd11.foundation:811229304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011310", "name": "Long chain fatty acids, defect in transport of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:350307", "OMIM:603376", "UMLS:C1863958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011312", "name": "Thyroid carcinoma, nonmedullary, with or without cell oxyphilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thyroid carcinoma, nonmedullary, with cell oxyphilia", "thyroid carcinoma, nonmedullary, with or without cell oxyphilia"], "xref": ["GARD:0015354", "MEDGEN:400409", "MESH:C537842", "OMIM:603386", "UMLS:C1863925"]}
{"category": ["biolink:Disease"], "description": "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.", "id": "MONDO:0011313", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1", "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2"], "xref": ["GARD:0018077", "MEDGEN:861164", "MESH:C566381", "OMIM:603387", "UMLS:C4012727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011315", "name": "Osebold skeletal dysplasia/osteolysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Osebold skeletal dysplasia/osteolysis syndrome"], "xref": ["MEDGEN:350300", "MESH:C566380", "OMIM:603389", "UMLS:C1863922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011316", "name": "Osteosclerotic chondrodysplasia, lethal, with intracellular inclusions", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteosclerotic chondrodysplasia, lethal, with intracellular inclusions"], "xref": ["MEDGEN:350298", "MESH:C566378", "OMIM:603393", "UMLS:C1863920"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011317", "name": "Microcephaly, severe, with skeletal anomalies including posterior rib-gap defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects"], "xref": ["MEDGEN:400408", "MESH:C566377", "OMIM:603394", "UMLS:C1863919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011318", "name": "Tonoki syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tonoki syndrome"], "xref": ["MEDGEN:355094", "MESH:C536967", "OMIM:603396", "UMLS:C1863918"]}
{"category": ["biolink:Disease"], "description": "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.", "id": "MONDO:0011320", "name": "Radioulnar synostosis-microcephaly-scoliosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Giuffre-Tsukahara syndrome", "Giuffré-Tsukahara syndrome", "Tsukahara syndrome"], "xref": ["GARD:0000394", "MEDGEN:400399", "OMIM:603438", "Orphanet:3268", "UMLS:C1863881"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011321", "name": "Expansile bone lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["expansile bone lesions"], "xref": ["MEDGEN:350991", "MESH:C566375", "OMIM:603439", "UMLS:C1863880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011322", "name": "Oroacral syndrome, verloes-koulischer type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Oroacral syndrome, Verloes-Koulischer type"], "xref": ["MEDGEN:400398", "MESH:C566374", "OMIM:603446", "UMLS:C1863879"]}
{"category": ["biolink:Disease"], "description": "Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene.", "id": "MONDO:0011323", "name": "Bosma arhinia microphthalmia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BAM syndrome", "BAMS", "Bosma Arhinia Microphthalmia Syndrome", "Bosma Henkin Christiansen syndrome", "Bosma arhinia microphthalmia syndrome", "Bosma arhinia-microphthalmia syndrome", "Bosma syndrome", "Bosma-Henkin-Christiansen syndrome", "Gifford-Bosma syndrome", "Ruprecht Majewski syndrome", "arhinia choanal atresia microphthalmia", "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism", "arrhinia-choanal atresia-microphthalmia syndrome", "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"], "xref": ["GARD:0027263", "MEDGEN:355084", "MESH:C537429", "OMIM:603457", "Orphanet:1135", "Orphanet:2250", "SCTID:720511000", "UMLS:C1863878"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", "id": "MONDO:0011325", "name": "Fanconi anemia complementation group f", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCF", "Fanconi Anemia, complementation group type F", "Fanconi anaemia complementation group type F", "Fanconi anemia complementation group F", "Fanconi anemia complementation group type F"], "xref": ["DOID:0111088", "GARD:0015355", "MEDGEN:854016", "NCIT:C125707", "OMIM:603467", "UMLS:C3469526"]}
{"category": ["biolink:Disease"], "description": "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.", "id": "MONDO:0011326", "name": "Citrullinemia, type ii, adult-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["citrullinemia, adult-onset type II", "citrullinemia, type II, adult-onset"], "xref": ["DOID:0070342", "GARD:0024789", "NANDO:1200980", "OMIM:603471"]}
{"category": ["biolink:Disease"], "description": "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.", "id": "MONDO:0011327", "name": "Neuronal intranuclear inclusion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neuronal intranuclear inclusion disease"], "xref": ["DOID:0081294", "GARD:0003971", "MEDGEN:355075", "MESH:C537395", "NCIT:C122655", "OMIM:603472", "Orphanet:2289", "SCTID:715437003", "UMLS:C1863843", "icd11.foundation:693937860"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.", "id": "MONDO:0011330", "name": "Spinocerebellar ataxia type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA10", "spinocerebellar ataxia type 10"], "xref": ["DOID:0050960", "GARD:0010474", "MEDGEN:369786", "MESH:C566874", "OMIM:603516", "Orphanet:98761", "SCTID:715754007", "UMLS:C1963674", "icd11.foundation:157300879"]}
{"category": ["biolink:Disease"], "description": "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.", "id": "MONDO:0011331", "name": "Congenital chylothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0060646", "GARD:0010156", "ICD9:511.89", "MEDGEN:87398", "MESH:C535461", "OMIM:603523", "Orphanet:264688", "SCTID:233646003", "UMLS:C0340014", "icd11.foundation:641475779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011332", "name": "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin"], "xref": ["MEDGEN:813565", "OMIM:603529", "UMLS:C3807235"]}
{"category": ["biolink:Disease"], "description": "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.", "id": "MONDO:0011334", "name": "Limb-mammary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LMS", "limb-mammary syndrome"], "xref": ["GARD:0010051", "MEDGEN:355051", "MESH:C535903", "OMIM:603543", "Orphanet:69085", "SCTID:721972001", "UMLS:C1863753", "icd11.foundation:1958986288"]}
{"category": ["biolink:Disease"], "description": "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.", "id": "MONDO:0011335", "name": "Spondyloepimetaphyseal dysplasia with multiple dislocations", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD-MD", "SEMDJL2", "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type", "spondyloepimetaphyseal dysplasia with joint laxity type 2", "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type", "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"], "xref": ["DOID:0112199", "GARD:0009866", "MEDGEN:350960", "MESH:C535784", "NCIT:C125419", "OMIM:603546", "Orphanet:93360", "SCTID:766820007", "UMLS:C1863732"]}
{"category": ["biolink:Disease"], "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.", "id": "MONDO:0011336", "name": "Familial hemophagocytic lymphohistiocytosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FHL4", "HLH4", "HPLH4", "STX11 genetic hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis 4", "familial hemophagocytic lymphohistiocytosis type 4", "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11", "hemophagocytic lymphohistiocytosis, familial, type 4"], "xref": ["DOID:0110924", "GARD:0009929", "MEDGEN:350245", "MESH:C537252", "NANDO:2200730", "OMIM:603552", "UMLS:C1863728"]}
{"category": ["biolink:Disease"], "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.", "id": "MONDO:0011337", "name": "Familial hemophagocytic lymphohistiocytosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FHL2", "HLH2", "HPLH2", "PRF1 genetic hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis type 2", "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1", "hemophagocytic lymphohistiocytosis, familial, type 2"], "xref": ["DOID:0110922", "GARD:0009922", "MEDGEN:400366", "MESH:C537250", "NANDO:2200728", "OMIM:603553", "UMLS:C1863727"]}
{"category": ["biolink:Disease"], "description": "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).", "id": "MONDO:0011338", "name": "Omenn syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Omenn syndrome", "combined immunodeficiency with hypereosinophilia"], "xref": ["DOID:0060010", "GARD:0008198", "MEDGEN:398130", "MedDRA:10069097", "NANDO:1200324", "NANDO:2200697", "NCIT:C61240", "OMIM:603554", "Orphanet:39041", "SCTID:722067005", "UMLS:C2700553"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.", "id": "MONDO:0011339", "name": "Hereditary spastic paraplegia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG8", "WASHC5 hereditary spastic paraplegia", "autosomal dominant spastic paraplegia type 8", "hereditary spastic paraplegia caused by mutation in WASHC5", "hereditary spastic paraplegia type 8"], "xref": ["DOID:0110823", "GARD:0009591", "MEDGEN:400359", "MESH:C580458", "OMIM:603563", "Orphanet:100989", "UMLS:C1863704"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011340", "name": "Congenital tracheal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012008", "ICD9:748.3", "MEDGEN:120556", "MESH:C566362", "NANDO:1201003", "OMIM:603569", "Orphanet:141127", "SCTID:9660004", "UMLS:C0265767", "icd11.foundation:2095672409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011341", "name": "Microcephaly, facial abnormalities, micromelia, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, facial abnormalities, micromelia, and intellectual disability", "microcephaly, facial abnormalities, micromelia, and mental retardation"], "xref": ["MEDGEN:350957", "MESH:C566361", "OMIM:603572", "UMLS:C1863702"]}
{"category": ["biolink:Disease"], "description": "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.", "id": "MONDO:0011342", "name": "Slc35a1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIf", "CDG-IIf", "CDG2F", "CMP-sialic acid transporter deficiency", "SLC35A1-CDG", "SLC35A1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIf", "congenital disorder of glycosylation type 2f", "congenital disorder of glycosylation type IIf"], "xref": ["DOID:0070258", "GARD:0012409", "MEDGEN:370234", "MESH:C567040", "OMIM:603585", "Orphanet:238459", "SCTID:723624008", "UMLS:C1970344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011343", "name": "Follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts"], "xref": ["MEDGEN:350955", "MESH:C566360", "OMIM:603587", "UMLS:C1863692"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011344", "name": "Parotitis, juvenile recurrent", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["parotitis, juvenile recurrent"], "xref": ["MEDGEN:350954", "MESH:C566359", "OMIM:603588", "UMLS:C1863691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011345", "name": "Facial dysmorphism, selective tooth agenesis, and choroid calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["facial dysmorphism, selective tooth agenesis, and choroid calcification"], "xref": ["MEDGEN:370233", "MESH:C567039", "OMIM:603589", "UMLS:C1970343"]}
{"category": ["biolink:Disease"], "description": "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.", "id": "MONDO:0011346", "name": "Xanthinuria type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["XAN2", "XDH and AOX dual deficiency", "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of", "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency"], "xref": ["DOID:0070453", "GARD:0005620", "MEDGEN:350953", "MESH:C566358", "OMIM:603592", "Orphanet:93602", "UMLS:C1863688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011347", "name": "Craniosynostosis with ectopia lentis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["craniosynostosis with ectopia lentis"], "xref": ["GARD:0024790", "MEDGEN:350949", "MESH:C566357", "OMIM:603595", "UMLS:C1863678"]}
{"category": ["biolink:Disease"], "description": "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.", "id": "MONDO:0011348", "name": "Non-syndromic polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["isolated polydactyly (disease)", "nonsyndromic polydactyly", "nonsyndromic polydactyly (disease)"], "xref": ["MedDRA:10036063", "Orphanet:2913", "icd11.foundation:1534380955"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011349", "name": "Osteoma of cranial vault, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteoma of cranial vault, familial"], "xref": ["MEDGEN:350948", "MESH:C566356", "OMIM:603600", "UMLS:C1863677"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.", "id": "MONDO:0011350", "name": "Autosomal dominant nonsyndromic hearing loss 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110548", "GARD:0009726", "MEDGEN:350942", "OMIM:603622", "UMLS:C1863659"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.", "id": "MONDO:0011351", "name": "Autosomal recessive nonsyndromic hearing loss 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 21"], "xref": ["DOID:0110479", "GARD:0022595", "MEDGEN:355030", "MESH:C566353", "OMIM:603629", "UMLS:C1863655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011352", "name": "Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia"], "xref": ["MEDGEN:355029", "MESH:C566352", "OMIM:603641", "UMLS:C1863649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011353", "name": "Atrial septal defect, secundum, with various cardiac and noncardiac defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["atrial septal defect, secundum, with various cardiac and Noncardiac defects"], "xref": ["MEDGEN:400350", "MESH:C566351", "OMIM:603642", "UMLS:C1863648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011354", "name": "Situs inversus totalis with cystic dysplasia of kidneys and pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["situs inversus totalis with cystic dysplasia of kidneys and pancreas"], "xref": ["GARD:0008567", "MEDGEN:400349", "MESH:C536666", "OMIM:603643", "UMLS:C1863647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011355", "name": "Cone-rod dystrophy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD7", "cone-rod dystrophy 7", "cone-rod dystrophy type 7"], "xref": ["DOID:0111012", "GARD:0015356", "MEDGEN:355026", "MESH:C566350", "OMIM:603649", "UMLS:C1863634"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011356", "name": "Exostosis, dupuytren subungual", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["exostosis, Dupuytren subungual"], "xref": ["MEDGEN:350935", "MESH:C535723", "OMIM:603656", "UMLS:C1863622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011357", "name": "Eccrine syringofibroadenomatosis with eyelid abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eccrine syringofibroadenomatosis with eyelid abnormalities"], "xref": ["MEDGEN:355022", "MESH:C566347", "OMIM:603669", "UMLS:C1863618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011358", "name": "Blue nevi, familial multiple", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blue nevi, familial multiple"], "xref": ["MEDGEN:400340", "MESH:C566346", "OMIM:603670", "UMLS:C1863617"]}
{"category": ["biolink:Disease"], "description": "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.", "id": "MONDO:0011359", "name": "Acromelic frontonasal dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AFND", "Toriello syndrome", "acromelic frontonasal dysostosis"], "xref": ["DOID:0060342", "GARD:0005539", "MEDGEN:350933", "MESH:C566345", "OMIM:603671", "Orphanet:1827", "SCTID:715427008", "UMLS:C1863616"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.", "id": "MONDO:0011360", "name": "Autosomal recessive nonsyndromic hearing loss 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110469", "GARD:0022596", "MEDGEN:350931", "MESH:C566344", "OMIM:603678", "UMLS:C1863613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011361", "name": "Prostate cancer/brain cancer susceptibility", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["prostate cancer/brain cancer susceptibility", "prostate cancer/brain cancer susceptibility, somatic"], "xref": ["GARD:0027800", "MEDGEN:400334", "OMIM:603688", "UMLS:C1863600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011362", "name": "Myopathy, myofibrillar, 9, with early respiratory failure", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADMERF", "Edstrom myopathy", "Edström myopathy", "HIBM-ERF", "HMERF", "HMERF-ERF", "distal myopathy with early respiratory muscle involvement", "hereditary inclusion body myopathy with early respiratory failure", "hereditary proximal myopathy with early respiratory failure", "myofibrillar myopathy with early respiratory failure", "myopathy, distal, with early respiratory failure, autosomal dominant", "myopathy, proximal, with early respiratory muscle involvement"], "xref": ["DOID:0111188", "GARD:0012591", "MEDGEN:350930", "MESH:C564377", "MESH:C566343", "OMIM:603689", "OMIM:607569", "Orphanet:178464", "Orphanet:34521", "SCTID:702373006", "SCTID:733490006", "UMLS:C1863599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011363", "name": "Diabetes mellitus, noninsulin-dependent, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diabetes mellitus, noninsulin-dependent, 3", "diabetes mellitus, noninsulin-dependent, type 3", "type 2 diabetes mellitus 3"], "xref": ["GARD:0024791", "MEDGEN:400332", "MESH:C566342", "OMIM:603694", "UMLS:C1863594"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.", "id": "MONDO:0011364", "name": "Autosomal recessive nonsyndromic hearing loss 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 16"], "xref": ["DOID:0110471", "GARD:0022597", "MEDGEN:350211", "MESH:C566339", "OMIM:603720", "UMLS:C1863561"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.", "id": "MONDO:0011365", "name": "Blepharophimosis - intellectual disability syndrome, sbbys type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ohdo syndrome, SBBYS variant", "SBBYSS", "SBBYSS syndrome", "Say-Barber-Biesecker-Young-Simpson syndrome", "blepharophimosis - intellectual disability syndrome, SBBYS type", "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome"], "xref": ["DOID:0060290", "GARD:0016618", "ICD9:759.89", "MEDGEN:350209", "MESH:C536717", "NANDO:1200681", "NANDO:2200982", "OMIM:603736", "Orphanet:3047", "SCTID:699298009", "UMLS:C1863557"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.", "id": "MONDO:0011366", "name": "Ovarian germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["germ cell neoplasm of ovary", "germ cell neoplasm of the ovary", "germ cell tumor of ovary", "germ cell tumor of the ovary", "germ cell tumour of ovary", "germ cell tumour of the ovary", "ovarian germ cell neoplasm", "ovarian germ cell tumor", "ovary germ cell tumor", "ovary germ cell tumour"], "xref": ["DOID:2156", "EFO:1000419", "GARD:0024792", "ICD9:239.5", "MEDGEN:65958", "NCIT:C3873", "OMIM:603737", "ONCOTREE:OGCT", "SCTID:237059008", "UMLS:C0238324"]}
{"category": ["biolink:Disease"], "description": "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.", "id": "MONDO:0011367", "name": "Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia"], "xref": ["MEDGEN:355009", "MESH:C538181", "OMIM:603740", "UMLS:C1863556"]}
{"category": ["biolink:Disease"], "description": "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.", "id": "MONDO:0011368", "name": "Papillary thyroid microcarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["papillary Microcarcinoma of the thyroid", "papillary Microcarcinoma of the thyroid gland", "papillary thyroid Microcarcinoma", "papillary thyroid gland Microcarcinoma", "thyroid gland papillary Microcarcinoma"], "xref": ["GARD:0015358", "ICDO:8341/3", "MEDGEN:313563", "MESH:C563277", "NCIT:C46004", "OMIM:603744", "UMLS:C1709457"]}
{"category": ["biolink:Disease"], "description": "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.", "id": "MONDO:0011369", "name": "Hypercholesterolemia, autosomal dominant, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["PCSK9 familial hypercholesterolemia", "familial hypercholesterolemia caused by mutation in PCSK9", "hypercholesterolemia, autosomal dominant, 3", "hypercholesterolemia, autosomal dominant, type 3", "hypercholesterolemia, familial, 3", "low density lipoprotein cholesterol level QTL 1"], "xref": ["GARD:0024793", "MEDGEN:355007", "MESH:C566337", "OMIM:603776", "UMLS:C1863551"]}
{"category": ["biolink:Disease"], "description": "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.", "id": "MONDO:0011370", "name": "Stargardt disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PROM1 Stargardt disease", "Stargardt disease 4", "Stargardt disease caused by mutation in PROM1", "Stargardt disease type 4"], "xref": ["DOID:0061239", "GARD:0015359", "MEDGEN:355004", "MESH:C535521", "OMIM:603786", "UMLS:C1863534"]}
{"category": ["biolink:Disease"], "description": "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0011371", "name": "Hydroa vacciniforme, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hereditary hydroa vacciniforme", "hydroa vacciniforme, familial"], "xref": ["GARD:0010079", "MEDGEN:355003", "MESH:C536077", "OMIM:603794", "UMLS:C1863533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011372", "name": "Microcephaly with simplified gyral pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microcephaly with simplified gyral pattern"], "xref": ["GARD:0015360", "MEDGEN:350198", "MESH:C566332", "OMIM:603802", "UMLS:C1863516"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.", "id": "MONDO:0011374", "name": "Hypercholesterolemia, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARH"], "xref": ["DOID:0090105", "GARD:0018614", "MEDGEN:400313", "MESH:C566331", "NCIT:C128114", "OMIM:603813", "UMLS:C1863512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011375", "name": "Brittle bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brittle bone disorder"], "xref": ["GARD:0024794", "MEDGEN:347059", "MESH:C565842", "OMIM:603828", "UMLS:C1859069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011376", "name": "Ventricular fibrillation, paroxysmal familial, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["VF1", "ventricular fibrillation, familial, 1", "ventricular fibrillation, paroxysmal familial, 1", "ventricular fibrillation, paroxysmal familial, type 1"], "xref": ["GARD:0024795", "MEDGEN:414502", "MESH:C567851", "OMIM:603829", "SCTID:233915000", "UMLS:C2751898"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.", "id": "MONDO:0011377", "name": "Long qt syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LQT3", "SCN5A long QT syndrome", "long QT syndrome 3", "long QT syndrome caused by mutation in SCN5A", "long QT syndrome type 3"], "xref": ["DOID:0110646", "GARD:0003286", "MEDGEN:349087", "MESH:C565840", "NCIT:C137959", "OMIM:603830", "UMLS:C1859062"]}
{"category": ["biolink:Disease"], "description": "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.", "id": "MONDO:0011381", "name": "Dominant beta-thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["inclusion body beta-thalassemia", "thalassemia-beta, dominant inclusion-body"], "xref": ["DOID:0080770", "GARD:0017164", "MEDGEN:347036", "MESH:C565834", "OMIM:603902", "Orphanet:231226", "SCTID:716682000", "UMLS:C1858990"]}
{"category": ["biolink:Disease"], "description": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.", "id": "MONDO:0011382", "name": "Sickle cell disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Haemoglobin S disease without crisis", "Hb-S/Hb-C disease", "Sickle Cell Disease", "sickle cell anemia", "sickle cell disease", "sickle-cell/Hb-C disease without crisis", "sickling disorder due to Haemoglobin S", "sickling disorder due to Hemoglobin S"], "xref": ["DOID:0081445", "DOID:10923", "GARD:0008614", "ICD10CM:D57.2", "ICD9:282.6", "ICD9:282.60", "ICD9:282.63", "MEDGEN:287", "MESH:D000755", "MedDRA:10040641", "NANDO:2200624", "NCIT:C34383", "NORD:1714", "OMIM:603903", "Orphanet:232", "UMLS:C0002895"]}
{"category": ["biolink:Disease"], "description": "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.", "id": "MONDO:0011383", "name": "Autoimmune lymphoproliferative syndrome type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALPS-CASP10", "ALPS2A", "CASP10 autoimmune lymphoproliferative syndrome", "autoimmune lymphoproliferative syndrome caused by mutation in CASP10", "autoimmune lymphoproliferative syndrome, type II", "autoimmune lymphoproliferative syndrome-CASP10 variant", "type 2 ALPS", "type 2 autoimmune lymphoproliferative syndrome"], "xref": ["DOID:0110115", "GARD:0015361", "MEDGEN:349065", "MESH:C565833", "NCIT:C39576", "OMIM:603909", "UMLS:C1858968"]}
{"category": ["biolink:Disease"], "description": "Any disease of a degenerative nature that affects the intervertebral disk.", "id": "MONDO:0011385", "name": "Intervertebral disk degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["IDD", "degenerative disk disease", "degenerative disorder of intervertebral disc", "degenerative disorder of intervertebral disk", "intervertebral Disc Degeneration", "intervertebral Disc degenerative disease", "intervertebral Disc degenerative disorder", "intervertebral disc degeneration", "intervertebral disc disease", "intervertebral disk degeneration", "intervertebral disk degenerative disorder", "intervertebral disk disease", "vertebral Disc degenerative disease", "vertebral Disc degenerative disorder", "vertebral disk disease"], "xref": ["DOID:90", "EFO:0004994", "ICD9:722.6", "MEDGEN:102357", "MESH:D055959", "NCIT:C26983", "OMIM:603932", "SCTID:77547008", "UMLS:C0158266"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.", "id": "MONDO:0011389", "name": "Autosomal dominant nonsyndromic hearing loss 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110547", "GARD:0018110", "MEDGEN:349054", "MESH:C565832", "OMIM:603964", "UMLS:C1858916"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.", "id": "MONDO:0011390", "name": "Focal segmental glomerulosclerosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSGS2", "TRPC6 focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis 2", "focal segmental glomerulosclerosis caused by mutation in TRPC6", "focal segmental glomerulosclerosis type 2"], "xref": ["DOID:0111129", "GARD:0015362", "MEDGEN:349053", "MESH:C565831", "OMIM:603965", "UMLS:C1858915"]}
{"category": ["biolink:Disease"], "description": "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.", "id": "MONDO:0011391", "name": "Megalencephalic leukoencephalopathy with subcortical cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MLC", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", "Van der Knaap syndrome", "megalencephalic leukodystrophy", "megalencephalic leukoencephalopathy with subcortical cysts type 1", "megalencephaly-cystic leukodystrophy syndrome"], "xref": ["DOID:0080315", "GARD:0003445", "MEDGEN:347006", "MESH:C536141", "NANDO:1200950", "NANDO:2200837", "Orphanet:2478", "SCTID:703536004", "UMLS:C1858854"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.", "id": "MONDO:0011392", "name": "Autosomal recessive nonsyndromic hearing loss 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110478", "GARD:0022598", "MEDGEN:347005", "MESH:C565828", "OMIM:604060", "UMLS:C1858840"]}
{"category": ["biolink:Disease"], "description": "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.", "id": "MONDO:0011393", "name": "Hypoalphalipoproteinemia, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDL deficiency, familial, 1", "hypoalphalipoproteinemia, familial"], "xref": ["DOID:0080957", "GARD:0024796", "MEDGEN:1684828", "OMIM:604091", "UMLS:C5231558"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.", "id": "MONDO:0011395", "name": "Cone-rod dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCA4 cone-rod dystrophy", "CORD3", "cone-rod dystrophy 3", "cone-rod dystrophy caused by mutation in ABCA4", "cone-rod dystrophy type 3"], "xref": ["DOID:0111013", "GARD:0010653", "MEDGEN:349030", "MESH:C565827", "OMIM:604116", "UMLS:C1858806"]}
{"category": ["biolink:Disease"], "description": "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.", "id": "MONDO:0011396", "name": "Loricrin keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Camisa disease", "Vohwinkel syndrome with ichthyosis", "keratoderma hereditarium mutilans with ichthyosis", "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome", "loricrin keratoderma"], "xref": ["GARD:0016719", "MEDGEN:395099", "MESH:C565826", "OMIM:604117", "Orphanet:79395", "SCTID:717183001", "UMLS:C1858805"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.", "id": "MONDO:0011397", "name": "Autosomal dominant cerebellar ataxia, deafness and narcolepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADCA-DN syndrome", "autosomal dominant cerebellar ataxia, deafness and narcolepsy"], "xref": ["DOID:0050968", "GARD:0012372", "MEDGEN:928337", "OMIM:604121", "Orphanet:314404", "UMLS:C4302668"]}
{"category": ["biolink:Disease"], "description": "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.", "id": "MONDO:0011398", "name": "Dystrophic epidermolysis bullosa pruriginosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEB, pruriginosa", "DEB-Pr", "dystrophic epidermolysis bullosa pruriginosa", "pruriginous dystrophic epidermolysis bullosa"], "xref": ["GARD:0016779", "ICD9:757.39", "MEDGEN:266151", "MESH:C563192", "OMIM:604129", "Orphanet:89843", "SCTID:403810008", "UMLS:C1275114"]}
{"category": ["biolink:Disease"], "description": "An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.", "id": "MONDO:0011399", "name": "Alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alpha thalassaemia", "alpha thalassemia spectrum", "alpha-thalassemia", "thalassemia, alpha-", "thalassemias, alpha-"], "xref": ["DOID:1099", "GARD:0000621", "ICD10CM:D56.0", "ICD9:282.43", "ICD9:282.49", "MEDGEN:1434", "MESH:D017085", "MedDRA:10043390", "NANDO:2201273", "NCIT:C34368", "OMIM:604131", "Orphanet:846", "SCTID:68913001", "UMLS:C0002312", "icd11.foundation:531667506"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.", "id": "MONDO:0011400", "name": "Dilated cardiomyopathy 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1G", "TTN familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1G", "dilated cardiomyopathy type 1G", "familial isolated dilated cardiomyopathy caused by mutation in TTN"], "xref": ["DOID:0110430", "GARD:0015363", "MEDGEN:347714", "MESH:C565824", "OMIM:604145", "UMLS:C1858763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011401", "name": "Alzheimer disease without neurofibrillary tangles", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD15", "Alzheimer disease 15", "Alzheimer disease without neurofibrillary tangles", "Alzheimer disease-15", "Alzheimer's disease 15", "Alzheimer's disease type 15"], "xref": ["DOID:0110048", "GARD:0007190", "MEDGEN:346983", "MESH:C536599", "MESH:C566998", "OMIM:604154", "OMIM:611155", "UMLS:C1858751"]}
{"category": ["biolink:Disease"], "description": "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.", "id": "MONDO:0011402", "name": "Congenital cataracts-facial dysmorphism-neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CCFDN", "congenital cataracts-facial dysmorphism-neuropathy syndrome"], "xref": ["GARD:0016645", "ICD9:759.89", "MEDGEN:346973", "MESH:C565822", "OMIM:604168", "Orphanet:48431", "SCTID:702433001", "UMLS:C1858726"]}
{"category": ["biolink:Disease"], "description": "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.", "id": "MONDO:0011403", "name": "Left ventricular noncompaction 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DTNA left ventricular noncompaction", "left ventricular noncompaction 1", "left ventricular noncompaction 1, with or without congenital heart defects", "left ventricular noncompaction caused by mutation in DTNA", "left ventricular noncompaction type 1"], "xref": ["GARD:0024797", "MEDGEN:349005", "OMIM:604169", "UMLS:C1858725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011404", "name": "Caronte", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Caronte"], "xref": ["MEDGEN:349004", "OMIM:604172", "UMLS:C1858724"]}
{"category": ["biolink:Disease"], "description": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.", "id": "MONDO:0011405", "name": "Poikiloderma with neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["poikiloderma with neutropenia", "poikiloderma with neutropenia, Clericuzio type"], "xref": ["DOID:0060551", "GARD:0004085", "MEDGEN:388129", "NANDO:2200749", "NCIT:C177535", "NORD:2022", "OMIM:604173", "Orphanet:221046", "UMLS:C1858723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011406", "name": "Cholesteatoma, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cholesteatoma, congenital"], "xref": ["MEDGEN:95999", "MESH:C562858", "OMIM:604183", "SCTID:232262007", "UMLS:C0395886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011407", "name": "Facial paresis, hereditary congenital, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["facial paresis, hereditary congenital, 2"], "xref": ["GARD:0018436", "MEDGEN:346971", "OMIM:604185", "UMLS:C1858717"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.", "id": "MONDO:0011408", "name": "Hereditary spastic paraplegia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF5A hereditary spastic paraplegia", "SPG10", "autosomal dominant spastic paraplegia type 10", "hereditary spastic paraplegia caused by mutation in KIF5A", "hereditary spastic paraplegia type 10"], "xref": ["DOID:0110763", "GARD:0009590", "MEDGEN:349003", "MESH:C537482", "OMIM:604187", "Orphanet:100991", "SCTID:732948003", "UMLS:C1858712"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011410", "name": "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly"], "xref": ["MEDGEN:388123", "MESH:C565817", "OMIM:604211", "UMLS:C1858696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011411", "name": "Chudley-mccullough syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chudley-McCullough syndrome"], "xref": ["GARD:0000086", "MEDGEN:347699", "MESH:C535459", "OMIM:604213", "Orphanet:314597", "UMLS:C1858695"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "id": "MONDO:0011412", "name": "Familial encephalopathy with neuroserpin inclusion bodies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FENIB"], "xref": ["DOID:0050831", "GARD:0010037", "ICD9:348.39", "MEDGEN:346965", "MESH:C536841", "NORD:1123", "OMIM:604218", "Orphanet:85110", "SCTID:702421006", "UMLS:C1858680", "icd11.foundation:453919434"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.", "id": "MONDO:0011413", "name": "Cataract 9 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CRYAA cataract (disease)", "CTRCT9", "cataract (disease) caused by mutation in CRYAA"], "xref": ["DOID:0110266", "GARD:0015364", "MEDGEN:347693", "OMIM:604219", "UMLS:C1858679"]}
{"category": ["biolink:Disease"], "description": "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.", "id": "MONDO:0011414", "name": "Peters anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Peters anomaly", "Peters anomaly (disease)", "Peters congenital glaucoma", "anterior segment dysgenesis 5, multiple subtypes"], "xref": ["DOID:0060673", "DOID:0080610", "GARD:0007377", "HP:0000659", "ICD9:743.44", "MEDGEN:91031", "MESH:C537884", "MedDRA:10059202", "OMIM:604229", "Orphanet:708", "SCTID:204153003", "UMLS:C0344559", "icd11.foundation:1902926622"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.", "id": "MONDO:0011415", "name": "Leber congenital amaurosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA3", "Leber congenital amaurosis 3", "Leber congenital amaurosis caused by mutation in SPATA7", "Leber congenital amaurosis type 3", "SPATA7 Leber congenital amaurosis", "retinitis pigmentosa, juvenile, autosomal recessive"], "xref": ["DOID:0110331", "GARD:0009661", "MEDGEN:346964", "MESH:C565814", "OMIM:604232", "UMLS:C1858677"]}
{"category": ["biolink:Disease"], "description": "A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.", "id": "MONDO:0011416", "name": "Generalized epilepsy with febrile seizures plus, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["generalized epilepsy with febrile seizures plus, type 1"], "xref": ["DOID:0111302", "GARD:0018659", "MEDGEN:348994", "MESH:C565809", "OMIM:604233", "UMLS:C1858672"]}
{"category": ["biolink:Disease"], "description": "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.", "id": "MONDO:0011417", "name": "Hemochromatosis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HFE3", "TFR2 hereditary hemochromatosis", "TFR2-related hemochromatosis", "hemochromatosis type 3", "hereditary hemochromatosis caused by mutation in TFR2"], "xref": ["DOID:0111030", "GARD:0010093", "MEDGEN:388114", "MESH:C537248", "OMIM:604250", "Orphanet:225123", "SCTID:719974003", "UMLS:C1858664"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011419", "name": "Camera-marugo-cohen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["camera-Marugo-Cohen syndrome"], "xref": ["MEDGEN:347689", "MESH:C537964", "OMIM:604257", "UMLS:C1858661"]}
{"category": ["biolink:Disease"], "description": "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.", "id": "MONDO:0011420", "name": "Short stature due to partial ghr deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["short stature due to partial growth hormone receptor deficiency"], "xref": ["GARD:0017435", "MEDGEN:346958", "MESH:C565805", "OMIM:604271", "Orphanet:314802", "UMLS:C1858656"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.", "id": "MONDO:0011421", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency", "MC5DN1", "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1", "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2"], "xref": ["DOID:0050768", "GARD:0018660", "MEDGEN:477906", "OMIM:604273", "UMLS:C3276276"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.", "id": "MONDO:0011422", "name": "Autosomal recessive proximal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AR pRTA", "proximal renal tubular acidosis with ocular abnormalities and intellectual disability", "proximal renal tubular acidosis, autosomal recessive", "renal tubular acidosis, proximal, with ocular abnormalities"], "xref": ["DOID:0061167", "DOID:0061195", "GARD:0016826", "MEDGEN:370883", "MESH:C567038", "OMIM:604278", "Orphanet:93607", "UMLS:C1970309"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.", "id": "MONDO:0011423", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD due to beta-sarcoglycan deficiency", "LGMD type 2E", "LGMD2E", "LGMDR4", "SGCB autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB", "autosomal recessive limb-girdle muscular dystrophy type 2E", "beta-sarcoglycan-related LGMD R4", "beta-sarcoglycan-related limb-girdle muscular dystrophy R4", "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency", "limb-girdle muscular dystrophy type 2E", "muscular dystrophy, limb-girdle, autosomal recessive 4", "muscular dystrophy, limb-girdle, type 2E"], "xref": ["DOID:0110279", "GARD:0003851", "MEDGEN:347674", "OMIM:604286", "Orphanet:119", "SCTID:718850008", "UMLS:C1858593"]}
{"category": ["biolink:Disease"], "description": "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.", "id": "MONDO:0011424", "name": "Carney triad", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carney triad"], "xref": ["GARD:0010924", "MEDGEN:388099", "MESH:C565803", "NCIT:C94833", "OMIM:604287", "Orphanet:139411", "SCTID:733492003", "UMLS:C1858592", "icd11.foundation:1771169701"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.", "id": "MONDO:0011425", "name": "Dilated cardiomyopathy 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1H", "dilated cardiomyopathy type 1H"], "xref": ["DOID:0110429", "GARD:0015365", "MEDGEN:348980", "MESH:C536277", "OMIM:604288", "UMLS:C1858591"]}
{"category": ["biolink:Disease"], "description": "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.", "id": "MONDO:0011426", "name": "Aceruloplasminemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aceruloplasminemia", "hereditary ceruloplasmin deficiency", "hypoceruloplasminemia, hereditary"], "xref": ["DOID:0050711", "GARD:0009499", "ICD9:277.6", "MEDGEN:168057", "NANDO:1200540", "NANDO:2200582", "NORD:707", "OMIM:604290", "Orphanet:48818", "SCTID:124224004", "UMLS:C0878682"]}
{"category": ["biolink:Disease"], "description": "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.", "id": "MONDO:0011428", "name": "Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EEC syndrome 3", "EEC syndrome caused by mutation in TP63", "EEC3", "TP63 EEC syndrome", "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3", "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3"], "xref": ["DOID:0060783", "GARD:0024798", "MEDGEN:347666", "MESH:C565799", "OMIM:604292", "UMLS:C1858562"]}
{"category": ["biolink:Disease"], "description": "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).", "id": "MONDO:0011429", "name": "Juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Arthritis, Juvenile Rheumatoid", "JIA", "Juvenile idiopathic arthritis", "juvenile idiopathic arthritis", "juvenile rheumatoid arthritis", "rheumatoid arthritis, systemic juvenile, susceptibility to"], "xref": ["DOID:676", "EFO:0002609", "GARD:0018677", "ICD9:714.3", "ICD9:714.31", "ICD9:714.33", "MEDGEN:760659", "MESH:D001171", "MedDRA:10059177", "NANDO:1200469", "NANDO:2200415", "NCIT:C114357", "NORD:808", "OMIM:604302", "Orphanet:92", "SCTID:410502007", "UMLS:C3495559", "icd11.foundation:1322678686"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.", "id": "MONDO:0011430", "name": "Pulverulent cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Coppock-like cataract", "dusty cataract", "pulverulent cataract"], "xref": ["GARD:0016884", "MEDGEN:318793", "MESH:C565133", "Orphanet:98984", "Orphanet:98986", "UMLS:C1833118", "icd11.foundation:1046743385"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.", "id": "MONDO:0011431", "name": "Mass syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MASS phenotype", "MASS syndrome"], "xref": ["GARD:0008489", "MEDGEN:346932", "MESH:C536030", "OMIM:604308", "Orphanet:99715", "UMLS:C1858556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011432", "name": "Blepharophimosis - intellectual disability syndrome, verloes type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMRS type V", "BMRS, Verloes type", "blepharophimosis-intellectual disability syndrome type V"], "xref": ["GARD:0017342", "MEDGEN:347661", "MESH:C565797", "OMIM:604314", "Orphanet:293725", "UMLS:C1858538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011433", "name": "Anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome", "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome"], "xref": ["MEDGEN:388087", "MESH:C565796", "OMIM:604315", "UMLS:C1858537"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011435", "name": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microcephaly 2, primary, autosomal recessive, with or without cortical malformations"], "xref": ["DOID:0070293", "GARD:0015366", "MEDGEN:346929", "MESH:C565794", "OMIM:604317", "UMLS:C1858535"]}
{"category": ["biolink:Disease"], "description": "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.", "id": "MONDO:0011436", "name": "Autosomal recessive distal spinal muscular atrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSMA1", "IGHMBP2 spinal muscular atrophy", "SIANRF", "SMARD1", "Spinal Muscular Atrophy with Respiratory Distress", "autosomal recessive distal spinal muscular atrophy 1", "autosomal recessive distal spinal muscular atrophy type 1", "autosomal recessive spinal muscular atrophy with respiratory distress", "dHMN6", "dSMA1", "diaphragmatic spinal muscular atrophy", "distal hereditary motor neuropathy type 6", "distal-HMN type 6", "severe infantile axonal neuropathy with respiratory failure type 1", "spinal muscular atrophy caused by mutation in IGHMBP2", "spinal muscular atrophy with respiratory distress type 1", "spinal muscular atrophy, distal, autosomal recessive, type 1"], "xref": ["DOID:0111064", "GARD:0008592", "ICD9:335.19", "MEDGEN:388083", "MESH:C536880", "NORD:1994", "OMIM:604320", "Orphanet:98920", "SCTID:711483003", "UMLS:C1858517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011437", "name": "Microcephaly 4, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microcephaly 4, primary, autosomal recessive"], "xref": ["DOID:0070291", "GARD:0015367", "MEDGEN:347655", "MESH:C565792", "OMIM:604321", "UMLS:C1858516"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.", "id": "MONDO:0011438", "name": "Acne", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acne", "acne (disease)", "acne varioliformis", "acne vulgaris"], "xref": ["DOID:6543", "EFO:0003894", "HP:0001061", "ICD10CM:L70", "ICD10WHO:L70", "ICD9:706.0", "MEDGEN:152379", "MTH:217", "NCIT:C27195", "UMLS:C0702166", "icd11.foundation:1892393023"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.", "id": "MONDO:0011439", "name": "Spinocerebellar ataxia type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA12", "spinocerebellar ataxia type 12"], "xref": ["DOID:0050962", "GARD:0010476", "MEDGEN:347653", "MESH:C565790", "NCIT:C154316", "OMIM:604326", "Orphanet:98762", "SCTID:719208005", "UMLS:C1858501", "icd11.foundation:1210063722"]}
{"category": ["biolink:Disease"], "description": "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.", "id": "MONDO:0011441", "name": "Complex regional pain syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Algodystrophy", "CRPS I", "CRPS1", "Complex regional pain syndrome I", "RND", "RSDS", "complex regional pain syndrome type 1", "reflex neurovascular dystrophy", "reflex sympathetic dystrophy", "reflex sympathetic dystrophy syndrome"], "xref": ["DOID:1811", "EFO:1001147", "GARD:0016928", "ICD10CM:G90.5", "ICD9:337.2", "ICD9:337.20", "ICD9:337.21", "ICD9:337.29", "ICD9:733.7", "MEDGEN:11159", "MESH:D012019", "MedDRA:10038249", "MedDRA:10064334", "NCIT:C85042", "OMIM:604335", "Orphanet:99995", "SCTID:50642008", "UMLS:C0034931"]}
{"category": ["biolink:Disease"], "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.", "id": "MONDO:0011442", "name": "Advanced sleep phase syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FASPS1", "PER2 advanced sleep phase syndrome", "advanced sleep phase syndrome caused by mutation in PER2", "advanced sleep phase syndrome type 1", "advanced sleep phase syndrome, familial, type 1"], "xref": ["DOID:0110011", "GARD:0015368", "MEDGEN:813657", "OMIM:604348", "UMLS:C3807327"]}
{"category": ["biolink:Disease"], "description": "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.", "id": "MONDO:0011443", "name": "Febrile seizures, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADGRV1 febrile seizures, familial", "febrile seizures, familial caused by mutation in ADGRV1", "febrile seizures, familial, 4", "febrile seizures, familial, type 4"], "xref": ["DOID:0111305", "MEDGEN:347652", "MESH:C565788", "OMIM:604352", "UMLS:C1858493"]}
{"category": ["biolink:Disease"], "description": "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.", "id": "MONDO:0011444", "name": "Duane retraction syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHN1 Duane retraction syndrome", "Duane retraction syndrome 2", "Duane retraction syndrome caused by mutation in CHN1", "Duane retraction syndrome type 2"], "xref": ["DOID:0061028", "GARD:0009966", "MEDGEN:196721", "OMIM:604356", "SCTID:128083007", "UMLS:C0751083"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.", "id": "MONDO:0011445", "name": "Hereditary spastic paraplegia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSP-TCC", "Nakamura-Osame syndrome", "SPG11", "SPG11 hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 11", "hereditary spastic paraplegia caused by mutation in SPG11", "hereditary spastic paraplegia type 11", "spastic paraplegia-intellectual disability-thin corpus callosum syndrome"], "xref": ["DOID:0110764", "GARD:0004919", "MEDGEN:388073", "NCIT:C148317", "OMIM:604360", "Orphanet:2822", "SCTID:715491000", "UMLS:C1858479"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011446", "name": "Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders"], "xref": ["MEDGEN:388072", "MESH:C565786", "OMIM:604363", "UMLS:C1858478"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011448", "name": "Pparg-related familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPLD3", "PPARG-related FPLD", "familial partial lipodystrophy type 3"], "xref": ["DOID:0070204", "GARD:0012600", "MEDGEN:328393", "OMIM:604367", "Orphanet:79083", "UMLS:C1720861"]}
{"category": ["biolink:Disease"], "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.", "id": "MONDO:0011449", "name": "Salla disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Salla disease", "sialic acid storage disease"], "xref": ["GARD:0004754", "MEDGEN:203368", "MedDRA:10067531", "NANDO:1200149", "NANDO:1200582", "NANDO:2201294", "NCIT:C85067", "OMIM:604369", "Orphanet:309334", "SCTID:87074006", "UMLS:C1096903"]}
{"category": ["biolink:Disease"], "description": "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.", "id": "MONDO:0011450", "name": "Breast-ovarian cancer, familial, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BRCA1 hereditary breast ovarian cancer syndrome", "breast-ovarian cancer, familial, 1, multifactorial", "breast-ovarian cancer, familial, susceptibility to, 1", "breast-ovarian cancer, familial, susceptibility to, type 1", "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1"], "xref": ["GARD:0027801", "MEDGEN:382914", "OMIM:604370", "UMLS:C2676676"]}
{"category": ["biolink:Disease"], "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.", "id": "MONDO:0011451", "name": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCO2 fatal infantile encephalocardiomyopathy", "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "fatal infantile encephalocardiomyopathy caused by mutation in SCO2", "mitochondrial complex IV deficiency, nuclear type 2"], "xref": ["DOID:0080357", "GARD:0018570", "MEDGEN:1748867", "OMIM:604377", "UMLS:C5399977"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.", "id": "MONDO:0011452", "name": "Hypotrichosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT7", "LAH2", "LIPH hypotrichosis", "Lah2", "hypotrichosis 7", "hypotrichosis caused by mutation in LIPH", "hypotrichosis type 7", "hypotrichosis, localized, autosomal recessive 2", "total Mari type hypotrichosis,", "woolly hair, autosomal recessive 2 with or without hypotrichosis", "wooly hair, autosomal recessive 2 with or without hypotrichosis"], "xref": ["DOID:0110704", "GARD:0008178", "MEDGEN:322969", "MESH:C536973", "OMIM:604379", "UMLS:C1836672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011453", "name": "Ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia"], "xref": ["MEDGEN:346903", "MESH:C565783", "OMIM:604380", "UMLS:C1858422"]}
{"category": ["biolink:Disease"], "description": "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.", "id": "MONDO:0011454", "name": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"], "xref": ["GARD:0017148", "MEDGEN:346902", "MESH:C565782", "OMIM:604381", "Orphanet:228190", "UMLS:C1858420"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011455", "name": "Lissencephaly, familial, with cleft palate and cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lissencephaly, familial, with cleft palate and cerebellar hypoplasia"], "xref": ["MEDGEN:348938", "MESH:C565781", "OMIM:604382", "UMLS:C1858419"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.", "id": "MONDO:0011456", "name": "Nephronophthisis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPH3", "NPHP3", "NPHP3 nephronophthisis (disease)", "nephronophthisis (disease) caused by mutation in NPHP3", "nephronophthisis 3", "nephronophthisis type 3"], "xref": ["DOID:0111114", "GARD:0018179", "MEDGEN:346809", "MESH:C565780", "OMIM:604387", "UMLS:C1858392"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.", "id": "MONDO:0011457", "name": "Ataxia-telangiectasia-like disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["ATLD", "ataxia - telangiectasia-like disorder", "ataxia-telangiectasia-like disorder type 1"], "xref": ["GARD:0024799", "ICD9:334.8", "MEDGEN:348929", "MESH:C565779", "OMIMPS:604391", "SCTID:700058006", "UMLS:C1858391", "icd11.foundation:242329289"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.", "id": "MONDO:0011458", "name": "Leber congenital amaurosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AIPL1 Leber congenital amaurosis", "LCA4", "Leber congenital amaurosis 4", "Leber congenital amaurosis caused by mutation in AIPL1", "Leber congenital amaurosis type 4"], "xref": ["DOID:0110332", "GARD:0009662", "MEDGEN:346808", "MESH:C565778", "OMIM:604393", "UMLS:C1858386"]}
{"category": ["biolink:Disease"], "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.", "id": "MONDO:0011459", "name": "Arrhythmogenic right ventricular dysplasia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARVC5", "ARVD5", "TMEM43 arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular cardiomyopathy 5", "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43", "arrhythmogenic right ventricular dysplasia 5", "arrhythmogenic right ventricular dysplasia type 5", "arrhythmogenic right ventricular dysplasia, familial, type 5"], "xref": ["DOID:0110074", "GARD:0024800", "MEDGEN:346805", "MESH:C565776", "OMIM:604400", "UMLS:C1858379"]}
{"category": ["biolink:Disease"], "description": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.", "id": "MONDO:0011460", "name": "Arrhythmogenic right ventricular dysplasia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC6", "ARVD6", "arrhythmogenic right ventricular cardiomyopathy 6", "arrhythmogenic right ventricular dysplasia type 6"], "xref": ["DOID:0110075", "GARD:0024801", "MEDGEN:346892", "MESH:C565775", "OMIM:604401", "UMLS:C1858378"]}
{"category": ["biolink:Disease"], "description": "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.", "id": "MONDO:0011461", "name": "Generalized epilepsy with febrile seizures plus, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFS+, type 2", "SCN1A febrile seizures, familial", "febrile seizures, familial caused by mutation in SCN1A", "generalized epilepsy with febrile seizures plus, type 2"], "xref": ["DOID:0111294", "GARD:0018661", "MEDGEN:388117", "MESH:C565810", "OMIM:604403", "UMLS:C1858673"]}
{"category": ["biolink:Disease"], "description": "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.", "id": "MONDO:0011462", "name": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FRA", "PAPA", "familial recurrent arthritis", "fra", "papa", "papa syndrome"], "xref": ["DOID:0080519", "GARD:0009176", "MEDGEN:346801", "MESH:C536253", "NANDO:1200868", "NANDO:2200437", "NCIT:C119055", "OMIM:604416", "Orphanet:69126", "SCTID:724015007", "UMLS:C1858361"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.", "id": "MONDO:0011463", "name": "Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive"], "xref": ["GARD:0017976", "MEDGEN:348918", "MESH:C565773", "OMIM:604431", "Orphanet:538096", "UMLS:C1858353"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.", "id": "MONDO:0011464", "name": "Spinocerebellar ataxia type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA11", "spinocerebellar ataxia type 11"], "xref": ["DOID:0050961", "GARD:0010475", "MEDGEN:346799", "MESH:C565772", "OMIM:604432", "Orphanet:98767", "SCTID:719207000", "UMLS:C1858351", "icd11.foundation:743674840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011465", "name": "Infundibulocystic basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["skin infundibulocystic basal cell carcinoma"], "xref": ["DOID:4279", "GARD:0009788", "MEDGEN:220984", "MESH:C537655", "NCIT:C27540", "OMIM:604451", "UMLS:C1304297"]}
{"category": ["biolink:Disease"], "description": "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.", "id": "MONDO:0011466", "name": "Distal myopathy, welander type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WDM"], "xref": ["GARD:0005552", "MEDGEN:67441", "OMIM:604454", "Orphanet:603", "UMLS:C0221054"]}
{"category": ["biolink:Disease"], "description": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.", "id": "MONDO:0011468", "name": "Hereditary motor and sensory neuropathy, okinawa type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HMSNP", "hereditary motor and sensory neuropathy, proximal type"], "xref": ["GARD:0010131", "MEDGEN:346886", "MESH:C535717", "OMIM:604484", "Orphanet:90117", "UMLS:C1858338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011470", "name": "Hyperlipidemia, combined, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hyperlipidemia, combined, 2", "hyperlipidemia, combined, type 2"], "xref": ["GARD:0024802", "MEDGEN:346879", "MESH:C565766", "OMIM:604499", "UMLS:C1858308"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.", "id": "MONDO:0011471", "name": "Inflammatory bowel disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD3", "inflammatory bowel disease 3", "inflammatory bowel disease type 3"], "xref": ["DOID:0110891", "MEDGEN:346785", "MESH:C565764", "OMIM:604519", "UMLS:C1858303"]}
{"category": ["biolink:Disease"], "description": "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.", "id": "MONDO:0011472", "name": "Epidermolysis bullosa simplex due to plakophilin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["McGrath syndrome", "ectodermal dysplasia-skin fragility syndrome"], "xref": ["GARD:0009705", "MEDGEN:388032", "MESH:C536183", "OMIM:604536", "Orphanet:158668", "SCTID:716699004", "UMLS:C1858302"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.", "id": "MONDO:0011473", "name": "Leber congenital amaurosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA5", "LCA5 Leber congenital amaurosis", "Leber congenital amaurosis 5", "Leber congenital amaurosis caused by mutation in LCA5", "Leber congenital amaurosis type 5"], "xref": ["DOID:0110215", "GARD:0009983", "MEDGEN:388031", "MESH:C536602", "OMIM:604537", "UMLS:C1858301"]}
{"category": ["biolink:Disease"], "description": "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.", "id": "MONDO:0011474", "name": "Progressive familial heart block type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PFHB1B", "TRPM4 progressive familial heart block", "progressive familial heart block caused by mutation in TRPM4"], "xref": ["DOID:0111076", "GARD:0002610", "ICD9:426.6", "MEDGEN:370220", "MESH:C567037", "OMIM:604559", "SCTID:698250005", "UMLS:C1970298"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.", "id": "MONDO:0011475", "name": "Charcot-marie-tooth disease type 4b2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4B2", "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2", "Charcot-Marie-Tooth disease type 4B2", "SBF2 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110190", "GARD:0009200", "MEDGEN:346869", "MESH:C535421", "OMIM:604563", "Orphanet:99956", "SCTID:715800000", "UMLS:C1858278", "icd11.foundation:393759720"]}
{"category": ["biolink:Disease"], "description": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.", "id": "MONDO:0011476", "name": "Mhc class i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bare lymphocyte syndrome type 1", "immunodeficiency by defective expression of HLA class 1", "immunodeficiency by defective expression of HLA class type 1"], "xref": ["DOID:0060009", "GARD:0009548", "MEDGEN:346868", "NANDO:1200328", "NANDO:2200701", "OMIMPS:604571", "Orphanet:34592", "SCTID:725136003", "UMLS:C1858266", "icd11.foundation:489749747"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.", "id": "MONDO:0011477", "name": "Tooth agenesis, selective, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PAX9 tooth agenesis", "PAX9-related selective tooth agenesis", "STHAG3", "hypodontia/oligodontia 3", "tooth agenesis caused by mutation in PAX9", "tooth agenesis, selective, 3", "tooth agenesis, selective, type 3"], "xref": ["GARD:0018247", "MEDGEN:410035", "MESH:C567036", "OMIM:604625", "UMLS:C1970291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011478", "name": "Growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia", "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia"], "xref": ["MEDGEN:346757", "MESH:C565755", "OMIM:604690", "UMLS:C1858182"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.", "id": "MONDO:0011479", "name": "Postural orthostatic tachycardia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["POTS", "familial orthostatic tachycardia due to norepinephrine transporter deficiency", "irritable heart", "orthostatic intolerance due to NET deficiency", "soldiers heart"], "xref": ["DOID:0111154", "EFO:1000645", "GARD:0013591", "MEDGEN:226970", "MESH:D054972", "NCIT:C85020", "OMIM:604715", "Orphanet:443236", "SCTID:371073003", "UMLS:C1299624", "icd11.foundation:1533647472"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.", "id": "MONDO:0011480", "name": "Autosomal dominant nonsyndromic hearing loss 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110550", "GARD:0018111", "MEDGEN:346852", "MESH:C565754", "OMIM:604717", "UMLS:C1858172"]}
{"category": ["biolink:Disease"], "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.", "id": "MONDO:0011481", "name": "Craniosynostosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRS2", "MSX2-related craniosynostosis", "Warman-Mulliken-Hayward syndrome", "craniosynostosis 2", "craniosynostosis type 2", "craniosynostosis, Warman type"], "xref": ["DOID:0061009", "GARD:0005538", "MEDGEN:346753", "OMIM:604757", "Orphanet:1541", "SCTID:720817008", "UMLS:C1858160"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.", "id": "MONDO:0011482", "name": "Dilated cardiomyopathy 1i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1I", "DES familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1I", "dilated cardiomyopathy type 1I", "familial isolated dilated cardiomyopathy caused by mutation in DES"], "xref": ["DOID:0110431", "GARD:0015372", "MEDGEN:387998", "MESH:C565752", "OMIM:604765", "UMLS:C1858154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011483", "name": "Polycystic bone disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polycystic bone disease"], "xref": ["MEDGEN:346749", "MESH:C536324", "OMIM:604771", "UMLS:C1858143"]}
{"category": ["biolink:Disease"], "description": "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.", "id": "MONDO:0011484", "name": "Catecholaminergic polymorphic ventricular tachycardia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARVC2", "ARVD2", "RYR2 familial isolated arrhythmogenic right ventricular dysplasia", "arrhythmogenic right ventricular cardiomyopathy 2", "arrhythmogenic right ventricular dysplasia 2", "arrhythmogenic right ventricular dysplasia type 2", "arrhythmogenic right ventricular dysplasia, familial, type 2", "catecholaminergic polymorphic ventricular tachycardia 1", "catecholaminergic polymorphic ventricular tachycardia type 1", "familial arrhythmogenic right ventricular dysplasia 2", "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2", "ventricular tachycardia, catecholaminergic polymorphic, 1"], "xref": ["DOID:0060675", "DOID:0110071", "GARD:0024803", "MEDGEN:351513", "MESH:C563409", "NCIT:C123414", "OMIM:600996", "OMIM:604772", "UMLS:C1631597"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.", "id": "MONDO:0011485", "name": "Autosomal recessive congenital ichthyosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI5", "autosomal recessive congenital ichthyosis 5", "autosomal recessive congenital ichthyosis type 5", "ichthyosis, congenital, autosomal recessive type 5"], "xref": ["DOID:0060714", "GARD:0009734", "MEDGEN:347628", "MESH:C537265", "OMIM:604777", "UMLS:C1858133"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.", "id": "MONDO:0011486", "name": "Congenital muscular dystrophy 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD1B", "MDC1B", "congenital muscular dystrophy type 1B"], "xref": ["DOID:0110634", "GARD:0012586", "MEDGEN:346746", "MESH:C565748", "OMIM:604801", "Orphanet:98893", "SCTID:764944006", "UMLS:C1858118"]}
{"category": ["biolink:Disease"], "description": "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.", "id": "MONDO:0011487", "name": "Huntington disease-like 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDL3", "Huntington disease-like 3", "Huntington disease-like type 3"], "xref": ["GARD:0016986", "MEDGEN:347622", "MESH:C565747", "OMIM:604802", "Orphanet:157946", "UMLS:C1858114"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.", "id": "MONDO:0011488", "name": "Microcephaly 3, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDK5RAP2 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2", "microcephaly 3, primary, autosomal recessive"], "xref": ["DOID:0070286", "GARD:0015373", "MEDGEN:347619", "MESH:C565746", "OMIM:604804", "UMLS:C1858108"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.", "id": "MONDO:0011489", "name": "Hereditary spastic paraplegia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RTN2 hereditary spastic paraplegia", "SPG12", "autosomal dominant spastic paraplegia type 12", "hereditary spastic paraplegia caused by mutation in RTN2", "hereditary spastic paraplegia type 12"], "xref": ["DOID:0110765", "GARD:0009586", "MEDGEN:347618", "MESH:C537484", "OMIM:604805", "Orphanet:100993", "SCTID:763374004", "UMLS:C1858106"]}
{"category": ["biolink:Disease"], "description": "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis", "id": "MONDO:0011490", "name": "Diffuse panbronchiolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0008526", "ICD9:491.8", "MEDGEN:163897", "MESH:C536174", "MedDRA:10062952", "OMIM:604809", "Orphanet:171700", "SCTID:430476004", "UMLS:C0878555", "icd11.foundation:291357751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011492", "name": "Mandibulofacial dysostosis syndrome, bauru type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mandibulofacial dysostosis syndrome, Bauru type"], "xref": ["MEDGEN:346839", "MESH:C565744", "OMIM:604830", "UMLS:C1858101"]}
{"category": ["biolink:Disease"], "description": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).", "id": "MONDO:0011493", "name": "Stickler syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["COL11A1 Stickler syndrome", "Stickler syndrome caused by mutation in COL11A1", "Stickler syndrome type II"], "xref": ["DOID:0080675", "GARD:0005020", "MEDGEN:347615", "MESH:C537493", "NCIT:C74985", "OMIM:604841", "Orphanet:90654", "UMLS:C1858084", "icd11.foundation:1652024415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011494", "name": "Hyaluronan metabolism, defect 1n", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyaluronan metabolism, defect type 1N"], "xref": ["MEDGEN:347614", "MESH:C565742", "OMIM:604855", "UMLS:C1858083"]}
{"category": ["biolink:Disease"], "description": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.", "id": "MONDO:0011496", "name": "Mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016812", "ICD9:755.63", "MEDGEN:609409", "MESH:C565740", "NANDO:2201352", "OMIM:604864", "Orphanet:93279", "SCTID:254064009", "UMLS:C0432214", "icd11.foundation:690266690"]}
{"category": ["biolink:Disease"], "description": "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.", "id": "MONDO:0011497", "name": "Hereditary north american indian childhood cirrhosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017037", "MEDGEN:387974", "MESH:C565737", "OMIM:604901", "Orphanet:168583", "SCTID:699189004", "UMLS:C1858051", "icd11.foundation:1992710077"]}
{"category": ["biolink:Disease"], "description": "Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.", "id": "MONDO:0011500", "name": "Becker nevus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Becker nevus syndrome", "pigmentary hairy epidermal nevus"], "xref": ["GARD:0005901", "MEDGEN:347608", "MESH:C565735", "OMIM:604919", "Orphanet:64755", "UMLS:C1858042"]}
{"category": ["biolink:Disease"], "description": "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.", "id": "MONDO:0011501", "name": "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Suarez-Stickler syndrome"], "xref": ["GARD:0010290", "MEDGEN:387969", "MESH:C565734", "OMIM:604922", "Orphanet:166277", "UMLS:C1858032"]}
{"category": ["biolink:Disease"], "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.", "id": "MONDO:0011502", "name": "Wolfram syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CISD2 Wolfram syndrome", "WFS2", "Wolfram syndrome 2", "Wolfram syndrome caused by mutation in CISD2", "Wolfram syndrome type 2"], "xref": ["DOID:0110630", "GARD:0015374", "MEDGEN:347604", "MESH:C565733", "OMIM:604928", "UMLS:C1858028"]}
{"category": ["biolink:Disease"], "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.", "id": "MONDO:0011503", "name": "Cortisone reductase deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORTRD1", "H6PD cortisone reductase deficiency", "apparent cortisone reductase deficiency", "cortisone reductase deficiency 1", "cortisone reductase deficiency caused by mutation in H6PD", "cortisone reductase deficiency type 1", "hexose-6-phosphate dehydrogenase deficiency"], "xref": ["DOID:0090141", "GARD:0015375", "MEDGEN:764630", "NCIT:C131849", "OMIM:604931", "UMLS:C3551716"]}
{"category": ["biolink:Disease"], "description": "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.", "id": "MONDO:0011504", "name": "Nde1-related microhydranencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MHAC"], "xref": ["GARD:0010216", "MEDGEN:341899", "MESH:C537555", "OMIM:605013", "Orphanet:443162", "UMLS:C1857977"]}
{"category": ["biolink:Disease"], "description": "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.", "id": "MONDO:0011505", "name": "Familial hypobetalipoproteinemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANGPTL3 hypobetalipoproteinemia", "FHBL2", "familial hypobetalipoproteinemia 2", "familial hypobetalipoproteinemia type 2", "hypobetalipoproteinemia caused by mutation in ANGPTL3", "hypobetalipoproteinemia, familial, type 2"], "xref": ["DOID:0111061", "GARD:0015376", "MEDGEN:341895", "MESH:C565732", "OMIM:605019", "UMLS:C1857970"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.", "id": "MONDO:0011506", "name": "Familial infantile myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FIME", "familial infantile myoclonus epilepsy", "myoclonic epilepsy, infantile, familial"], "xref": ["GARD:0017521", "MEDGEN:181488", "OMIM:605021", "Orphanet:352582", "UMLS:C0917800"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011507", "name": "Diabetes mellitus, congenital autoimmune", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diabetes mellitus, congenital autoimmune"], "xref": ["MEDGEN:347586", "MESH:C565730", "OMIM:605026", "UMLS:C1857958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011508", "name": "Lymphoma, non-hodgkin, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["lymphoma, follicular, somatic", "lymphoma, non-Hodgkin", "lymphoma, non-Hodgkin, familial", "lymphoma, non-Hodgkin, somatic"], "xref": ["GARD:0024804", "ICD9:202.80", "MEDGEN:1648388", "OMIM:605027", "SCTID:118601006", "UMLS:C4721532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011509", "name": "Low density lipoprotein cholesterol, mild elevation of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["low density lipoprotein cholesterol, mild elevation of"], "xref": ["MEDGEN:347585", "OMIM:605028", "UMLS:C1857956"]}
{"category": ["biolink:Disease"], "description": "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.", "id": "MONDO:0011510", "name": "Bohring-opitz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bohring syndrome", "Bohring-Opitz syndrome", "Bos syndrome", "C-like syndrome", "Oberklaid-Danks syndrome", "Opitz trigonocephaly-like syndrome"], "xref": ["GARD:0010140", "MEDGEN:208678", "MESH:C537419", "NCIT:C131533", "NORD:1981", "OMIM:605039", "Orphanet:97297", "SCTID:720565000", "UMLS:C0796232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011511", "name": "Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia"], "xref": ["MEDGEN:387951", "MESH:C565729", "OMIM:605040", "UMLS:C1857942"]}
{"category": ["biolink:Disease"], "description": "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.", "id": "MONDO:0011512", "name": "Brooke-spiegler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Brooke-Spiegler syndrome", "CYLD cutaneous syndrome"], "xref": ["DOID:0050693", "GARD:0010179", "ICD9:239.2", "MEDGEN:346703", "NCIT:C205541", "OMIM:605041", "Orphanet:79493", "SCTID:703531009", "UMLS:C1857941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011513", "name": "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology"], "xref": ["GARD:0016508", "MEDGEN:341884", "MESH:C565728", "OMIM:605055", "UMLS:C1857933"]}
{"category": ["biolink:Disease"], "description": "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).", "id": "MONDO:0011514", "name": "Tricuspid atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital atresia of tricuspid valve", "tricuspid atresia", "tricuspid atresia (disease)", "tricuspid valve atresia"], "xref": ["DOID:0080169", "GARD:0005274", "HP:0011662", "MEDGEN:67034", "MESH:D018785", "MedDRA:10049767", "NANDO:1200706", "NANDO:1200962", "NANDO:2100073", "NANDO:2200251", "NCIT:C85202", "OMIM:605067", "Orphanet:1209", "SCTID:63042009", "UMLS:C0243002", "icd11.foundation:845891723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011516", "name": "Early response to neural induction gene", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["early response to neural induction gene"], "xref": ["MEDGEN:344332", "OMIM:605105", "UMLS:C1854633"]}
{"category": ["biolink:Disease"], "description": "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.", "id": "MONDO:0011517", "name": "Pseudohyperaldosteronism type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["early-onset hypertension with exacerbation in pregnancy", "hypertension due to gain-of-function mutations in the mineralocorticoid receptor", "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"], "xref": ["GARD:0019093", "MEDGEN:343170", "MESH:C565359", "OMIM:605115", "Orphanet:88660", "SCTID:766937004", "UMLS:C1854631", "icd11.foundation:538048714"]}
{"category": ["biolink:Disease"], "description": "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.", "id": "MONDO:0011518", "name": "Wiedemann-steiner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wiedemann-Steiner syndrome", "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"], "xref": ["GARD:0005565", "MEDGEN:340266", "MESH:C536704", "NORD:150898", "OMIM:605130", "Orphanet:319182", "UMLS:C1854630"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.", "id": "MONDO:0011519", "name": "Autosomal dominant nonsyndromic hearing loss 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110553", "GARD:0001708", "MEDGEN:343162", "MESH:C565357", "OMIM:605192", "UMLS:C1854594"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.", "id": "MONDO:0011521", "name": "Inflammatory bowel disease 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD7", "inflammatory bowel disease 7", "inflammatory bowel disease type 7"], "xref": ["DOID:0110882", "MEDGEN:381452", "MESH:C565353", "OMIM:605225", "UMLS:C1854573"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.", "id": "MONDO:0011522", "name": "Hereditary spastic paraplegia 14", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG14", "autosomal recessive spastic paraplegia type 14", "hereditary spastic paraplegia type 14", "spastic paraplegia 14", "spastic paraplegia 14, autosomal recessive"], "xref": ["DOID:0110767", "GARD:0009589", "MEDGEN:343157", "MESH:C537486", "OMIM:605229", "Orphanet:100995", "UMLS:C1854568"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011523", "name": "Bardet-biedl syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS6", "Bardet-Biedl syndrome 6", "Bardet-Biedl syndrome type 6"], "xref": ["DOID:0110128", "GARD:0010205", "MEDGEN:347610", "MESH:C565738", "OMIM:605231", "UMLS:C1858054"]}
{"category": ["biolink:Disease"], "description": "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.", "id": "MONDO:0011524", "name": "Dianzani autoimmune lymphoproliferative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DALD", "Dianzani autoimmune lymphoproliferative disease", "Dianzani autoimmune lymphoproliferative syndrome", "Dianzani form of autoimmune lymphoproliferative disease", "autoimmune lymphoproliferative syndrome without FAS mutations"], "xref": ["GARD:0009797", "MEDGEN:418980", "MESH:C535950", "OMIM:605233", "Orphanet:275523", "SCTID:721093000", "UMLS:C2931071"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011525", "name": "Carney complex type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNC2", "Carney Myxoma-endocrine Complex, type 2", "Carney complex, type 2", "Carney complex, type II"], "xref": ["GARD:0015377", "MEDGEN:340253", "OMIM:605244", "UMLS:C1854540"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.", "id": "MONDO:0011527", "name": "Charcot-marie-tooth disease type 4e", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4E", "Charcot-Marie-Tooth disease type 4E", "Neuropathy, Congenital Hypomyelination", "autosomal recessive congenital hypomyelinating neuropathy", "hypomyelinating neuropathy, congenital, 1"], "xref": ["DOID:0110195", "GARD:0009203", "MEDGEN:1648303", "MESH:C535301", "NORD:1506", "OMIM:605253", "Orphanet:99951", "SCTID:763135001", "UMLS:C4721436", "icd11.foundation:225958466"]}
{"category": ["biolink:Disease"], "description": "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.", "id": "MONDO:0011528", "name": "Hyper-igm syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AICDA hyper-IgM syndrome", "Activation-induced cytidine deaminase deficiency", "HIGM2", "activation-induced cytidine deaminase deficiency", "aid deficiency", "hyper-IgM syndrome caused by mutation in AICDA", "hyper-IgM syndrome type 2"], "xref": ["DOID:0060758", "GARD:0010578", "MEDGEN:354548", "NCIT:C129074", "OMIM:605258", "Orphanet:101089", "SCTID:403836001", "UMLS:C1720956"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.", "id": "MONDO:0011529", "name": "Spinocerebellar ataxia type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA13", "spinocerebellar ataxia type 13"], "xref": ["DOID:0050963", "GARD:0009611", "MEDGEN:344297", "MESH:C537195", "OMIM:605259", "Orphanet:98768", "SCTID:719209002", "UMLS:C1854488", "icd11.foundation:1191033828"]}
{"category": ["biolink:Disease"], "description": "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.", "id": "MONDO:0011530", "name": "Mesomelic dysplasia, savarirayan type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mesomelic dysplasia with absent fibulas and triangular tibias", "mesomelic dysplasia, Savarirayan type", "triangular tibia-fibular aplasia syndrome"], "xref": ["GARD:0010584", "MEDGEN:343129", "MESH:C565349", "OMIM:605274", "Orphanet:85170", "SCTID:715652002", "UMLS:C1854470", "icd11.foundation:1627637820"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011531", "name": "Noonan syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS2", "Noonan syndrome 2", "Noonan syndrome type 2"], "xref": ["DOID:0060580", "GARD:0010698", "MEDGEN:344290", "MESH:C548081", "NCIT:C176930", "OMIM:605275", "UMLS:C1854469"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.", "id": "MONDO:0011532", "name": "Hereditary spastic paraplegia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSPD1 hereditary spastic paraplegia", "SPG13", "hereditary spastic paraplegia caused by mutation in HSPD1", "hereditary spastic paraplegia type 13"], "xref": ["DOID:0110766", "GARD:0009616", "MEDGEN:344289", "MESH:C537485", "OMIM:605280", "Orphanet:100994", "UMLS:C1854467"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.", "id": "MONDO:0011533", "name": "Temtamy preaxial brachydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["preaxial brachydactyly syndrome, TEMTAMY type", "temtamy preaxial brachydactyly syndrome"], "xref": ["DOID:0050814", "GARD:0009679", "MEDGEN:381425", "MESH:C536958", "OMIM:605282", "Orphanet:363417", "UMLS:C1854466"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.", "id": "MONDO:0011534", "name": "Charcot-marie-tooth disease type 4g", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4G", "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1", "HK1 Charcot-Marie-Tooth disease type 4", "HMSNR", "hereditary motor and sensory neuropathy, Russe type"], "xref": ["DOID:0110196", "GARD:0010132", "MEDGEN:343122", "MESH:C535813", "OMIM:605285", "Orphanet:99953", "SCTID:715799004", "UMLS:C1854449", "icd11.foundation:995395080"]}
{"category": ["biolink:Disease"], "description": "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.", "id": "MONDO:0011535", "name": "Split hand-foot malformation 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFM4", "TP63 split hand-foot malformation", "split hand-foot malformation caused by mutation in TP63", "split hand-foot malformation type 4", "split-hand/foot malformation type 4"], "xref": ["DOID:0090023", "GARD:0015378", "MEDGEN:343120", "MESH:C565344", "OMIM:605289", "UMLS:C1854442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011536", "name": "Optic atrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OPA4", "optic atrophy 4"], "xref": ["DOID:0111440", "GARD:0015379", "MEDGEN:340236", "MESH:C565343", "OMIM:605293", "UMLS:C1854430"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.", "id": "MONDO:0011537", "name": "Macrocephaly-autism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["macrocephaly-intellectual disability-autism syndrome"], "xref": ["DOID:0060867", "GARD:0017112", "MEDGEN:381416", "MESH:C565342", "OMIM:605309", "Orphanet:210548", "UMLS:C1854416"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011538", "name": "Frontoocular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["frontoocular syndrome"], "xref": ["MEDGEN:344278", "MESH:C565340", "OMIM:605321", "UMLS:C1854405"]}
{"category": ["biolink:Disease"], "description": "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.", "id": "MONDO:0011539", "name": "Nemaline myopathy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANM", "Amish nemaline myopathy", "NEM5", "TNNT1 nemaline myopathy", "nemaline myopathy 5", "nemaline myopathy caused by mutation in TNNT1", "nemaline myopathy type 5"], "xref": ["DOID:0110936", "GARD:0008334", "MEDGEN:344273", "MESH:C538397", "OMIM:605355", "Orphanet:98902", "UMLS:C1854380"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.", "id": "MONDO:0011540", "name": "Spinocerebellar ataxia type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA14", "spinocerebellar ataxia type 14"], "xref": ["DOID:0050964", "GARD:0009867", "MEDGEN:343106", "MESH:C537196", "OMIM:605361", "Orphanet:98763", "SCTID:719210007", "UMLS:C1854369", "icd11.foundation:736357100"]}
{"category": ["biolink:Disease"], "description": "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.", "id": "MONDO:0011541", "name": "Dilated cardiomyopathy 1j", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD1J", "EYA4 familial dilated cardiomyopathy", "cardiomyopathy, dilated, type 1J", "dilated cardiomyopathy 1J", "dilated cardiomyopathy type 1J", "familial dilated cardiomyopathy caused by mutation in EYA4", "neurosensory deafness with dilated cardiomyopathy", "neurosensory hearing loss with dilated cardiomyopathy", "sensorineural deafness with dilated cardiomyopathy", "sensorineural hearing loss with dilated cardiomyopathy"], "xref": ["DOID:0110440", "GARD:0017128", "MEDGEN:343105", "MESH:C565337", "OMIM:605362", "Orphanet:217622", "UMLS:C1854368"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).", "id": "MONDO:0011544", "name": "Pheochromocytoma/paraganglioma syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SDHC paraganglioma", "SDHC-related tumor predisposition", "paraganglioma caused by mutation in SDHC", "paragangliomas 3", "paragangliomas type 3", "pheochromocytoma/paraganglioma syndrome 3"], "xref": ["DOID:0061218", "GARD:0010545", "MEDGEN:340200", "MESH:C565335", "OMIM:605373", "UMLS:C1854336"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.", "id": "MONDO:0011545", "name": "Autosomal dominant nocturnal frontal lobe epilepsy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy", "ENFL3", "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2", "autosomal dominant nocturnal frontal lobe epilepsy type 3", "epilepsy, nocturnal frontal lobe, type 3"], "xref": ["DOID:0060684", "GARD:0015380", "MEDGEN:344263", "MESH:C565334", "OMIM:605375", "UMLS:C1854335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011546", "name": "Heterotaxy, visceral, 2, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DTGA2", "heterotaxy, visceral, 2, autosomal", "transposition of the great arteries, dextro-looped 2"], "xref": ["DOID:0051017", "GARD:0024805", "MEDGEN:237904", "OMIM:605376", "UMLS:C1415817"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.", "id": "MONDO:0011547", "name": "Cataract 31 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHMP4B early-onset non-syndromic cataract", "CTRCT31", "early-onset non-syndromic cataract caused by mutation in CHMP4B"], "xref": ["DOID:0110265", "GARD:0010227", "MEDGEN:343089", "MESH:C535343", "OMIM:605387", "UMLS:C1854311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011548", "name": "Cerebral palsy, ataxic, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral palsy, ataxic, autosomal recessive"], "xref": ["GARD:0010451", "ICD9:343.8", "OMIM:605388"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.", "id": "MONDO:0011549", "name": "Hypotrichosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["APCDD1 hypotrichosis", "HTS", "HYPT1", "hereditary generalised hypotrichosis simplex", "hypotrichosis 1", "hypotrichosis caused by mutation in APCDD1", "hypotrichosis type 1"], "xref": ["DOID:0110698", "GARD:0024806", "MEDGEN:1644234", "OMIM:605389", "UMLS:C4551976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011550", "name": "Fibromatosis, gingival, with hypertrichosis and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibromatosis, gingival, with hypertrichosis and intellectual disability", "fibromatosis, gingival, with hypertrichosis and mental retardation"], "xref": ["MEDGEN:344255", "MESH:C565331", "OMIM:605400", "UMLS:C1854306"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.", "id": "MONDO:0011551", "name": "Th-deficient dopa-responsive dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT5b", "Dopa-responsive dystonia, autosomal recessive", "Segawa syndrome, recessive", "autosomal recessive Segawa syndrome", "autosomal recessive dopa-responsive dystonia", "dopa-responsive dystonia, autosomal recessive", "tyrosine hydroxylase-deficient dopa-responsive dystonia"], "xref": ["DOID:0051059", "GARD:0001902", "MEDGEN:382128", "NORD:1810", "OMIM:605407", "Orphanet:101150", "SCTID:715827001", "UMLS:C2673535"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.", "id": "MONDO:0011552", "name": "Schizophrenia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD10", "schizophrenia 10"], "xref": ["DOID:0070086", "MEDGEN:107776", "MESH:D012560", "OMIM:605419", "UMLS:C0543918"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.", "id": "MONDO:0011553", "name": "Autosomal recessive nonsyndromic hearing loss 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110484", "GARD:0022599", "MEDGEN:340185", "MESH:C565329", "OMIM:605428", "UMLS:C1854275"]}
{"category": ["biolink:Disease"], "description": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).", "id": "MONDO:0011555", "name": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATRUS syndrome"], "xref": ["GARD:0016687", "MEDGEN:340183", "MESH:C565328", "NANDO:2200660", "OMIMPS:605432", "Orphanet:71289", "SCTID:721882001", "UMLS:C1854273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011557", "name": "Radiation sensitivity/chromosome instability syndrome, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "synonym": ["radiation sensitivity/chromosome instability syndrome, autosomal dominant"], "xref": ["GARD:0024807", "MEDGEN:343082", "MESH:C565326", "OMIM:605463", "UMLS:C1854244"]}
{"category": ["biolink:Disease"], "description": "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.", "id": "MONDO:0011558", "name": "Usher syndrome type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH2C", "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant", "Usher syndrome, type 2C, autosomal recessive, digenic dominant", "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant"], "xref": ["DOID:0110839", "GARD:0008497", "MEDGEN:419359", "MESH:C536492", "NCIT:C153174", "OMIM:605472", "UMLS:C2931213"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011559", "name": "Benign recurrent intrahepatic cholestasis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BRIC2", "Bric type 2", "cholestasis, benign recurrent intrahepatic, type 2"], "xref": ["DOID:0070232", "GARD:0010029", "MEDGEN:435857", "MESH:C535934", "OMIM:605479", "Orphanet:99961", "UMLS:C2608083"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.", "id": "MONDO:0011561", "name": "Alzheimer disease 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD6", "Alzheimer disease 6", "Alzheimer disease type 6", "Alzheimer's disease 6", "Alzheimer's disease type 6"], "xref": ["DOID:0110038", "GARD:0016509", "MEDGEN:381362", "MESH:C565325", "OMIM:605526", "UMLS:C1854187"]}
{"category": ["biolink:Disease"], "description": "A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.", "id": "MONDO:0011562", "name": "Autosomal dominant parkinson disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal dominant Parkinson disease 4", "autosomal dominant Parkinson disease type 4"], "xref": ["DOID:0060895", "GARD:0018475", "MEDGEN:381361", "MESH:C565324", "OMIM:605543", "UMLS:C1854182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011563", "name": "Fibromatosis, gingival, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GINGF2", "fibromatosis, gingival, 2"], "xref": ["GARD:0002474", "MEDGEN:344226", "MESH:C565323", "OMIM:605544", "UMLS:C1854181"]}
{"category": ["biolink:Disease"], "description": "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.", "id": "MONDO:0011564", "name": "Cone-rod dystrophy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD8", "cone-rod dystrophy 8", "cone-rod dystrophy type 8"], "xref": ["DOID:0111014", "GARD:0015381", "MEDGEN:381360", "MESH:C565322", "OMIM:605549", "UMLS:C1854180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011565", "name": "Metabolic syndrome x", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["abdominal obesity-metabolic syndrome 1", "metabolic syndrome type X"], "xref": ["DOID:14221", "ICD9:277.7", "MEDGEN:1640883", "MESH:D024821", "OMIM:605552", "SCTID:237602007", "UMLS:C4552048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011566", "name": "Abdominal obesity-metabolic syndrome quantitative trait locus 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["abdominal obesity-metabolic syndrome quantitative trait locus 2", "abdominal obesity-metabolic syndrome quantitative trait locus type 2"], "xref": ["GARD:0024808", "MEDGEN:344224", "OMIM:605572", "UMLS:C1854170"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.", "id": "MONDO:0011567", "name": "Dilated cardiomyopathy 1k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1K", "dilated cardiomyopathy type 1K"], "xref": ["DOID:0110437", "GARD:0015382", "MEDGEN:381354", "MESH:C565320", "OMIM:605582", "UMLS:C1854159"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.", "id": "MONDO:0011568", "name": "Autosomal dominant nonsyndromic hearing loss 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110555", "GARD:0018112", "MEDGEN:344221", "MESH:C565319", "OMIM:605583", "UMLS:C1854158"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.", "id": "MONDO:0011569", "name": "Charcot-marie-tooth disease type 2b1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT2B1", "CMT2B1", "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "Charcot-Marie-Tooth disease, type 2B1", "LMNA Charcot-Marie-Tooth disease type 2", "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "autosomal recessive axonal CMT4C1"], "xref": ["DOID:0110156", "GARD:0008548", "MEDGEN:343064", "MESH:C537990", "OMIM:605588", "Orphanet:98856", "SCTID:725048002", "UMLS:C1854154", "icd11.foundation:957134152"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.", "id": "MONDO:0011570", "name": "Charcot-marie-tooth disease type 2b2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT2B2", "ARCMT2B", "CMT2B2", "Charcot-Marie-Tooth disease type 2B2", "Charcot-Marie-Tooth disease, type 2B2", "autosomal recessive axonal CMT4C3", "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"], "xref": ["DOID:0110179", "GARD:0001249", "MEDGEN:381352", "MESH:C537991", "OMIM:605589", "Orphanet:101101", "SCTID:719981005", "UMLS:C1854150", "icd11.foundation:2009111705"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011571", "name": "Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1"], "xref": ["GARD:0015383", "MEDGEN:340145", "MESH:C565316", "OMIM:605594", "UMLS:C1854146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011574", "name": "Tetralogy of fallot syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tetralogy of fallot syndrome, autosomal recessive"], "xref": ["MEDGEN:381344", "MESH:C565314", "OMIM:605618", "UMLS:C1854119"]}
{"category": ["biolink:Disease"], "description": "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.", "id": "MONDO:0011575", "name": "Cerebrooculonasal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cerebrooculonasal syndrome"], "xref": ["GARD:0003480", "MEDGEN:340138", "MESH:C565313", "OMIM:605627", "Orphanet:66625", "SCTID:720855003", "UMLS:C1854108"]}
{"category": ["biolink:Disease"], "description": "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.", "id": "MONDO:0011576", "name": "Familial hyperaldosteronism type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FH-II", "FH2", "familial adrenal adenoma", "familial hyperaldosteronism type 2"], "xref": ["DOID:0061249", "GARD:0002789", "MEDGEN:340137", "MESH:C565312", "NCIT:C127162", "OMIM:605635", "Orphanet:404", "SCTID:703233008", "UMLS:C1854107"]}
{"category": ["biolink:Disease"], "description": "Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance.", "id": "MONDO:0011577", "name": "Myopathy, proximal, and ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles", "myopathy, proximal, and ophthalmoplegia"], "xref": ["DOID:0080719", "GARD:0024809", "MEDGEN:381340", "MESH:C565311", "OMIM:605637", "UMLS:C1854106"]}
{"category": ["biolink:Disease"], "description": "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).", "id": "MONDO:0011578", "name": "Familial papillary thyroid carcinoma with renal papillary neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTC-RCC", "ptc-RCC"], "xref": ["GARD:0016853", "MEDGEN:381339", "MESH:C565310", "OMIM:605642", "Orphanet:97290", "SCTID:717734005", "UMLS:C1854104"]}
{"category": ["biolink:Disease"], "description": "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.", "id": "MONDO:0011579", "name": "Late-onset retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LORD", "autosomal dominant late-onset retinal degeneration", "late-onset retinal degeneration"], "xref": ["DOID:0060869", "GARD:0004357", "MEDGEN:344198", "MESH:C565309", "OMIM:605670", "Orphanet:67042", "SCTID:719431007", "UMLS:C1854065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011580", "name": "Cerebellar ataxia and hypergonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cerebellar ataxia and hypergonadotropic hypogonadism"], "xref": ["GARD:0015384", "MEDGEN:381328", "MESH:C565308", "OMIM:605672", "UMLS:C1854064"]}
{"category": ["biolink:Disease"], "description": "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.", "id": "MONDO:0011581", "name": "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carvajal syndrome", "DCWHK", "KWWH type II", "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "dilated cardiomyopathy with wooly hair and keratoderma", "keratoderma with woolly hair type II", "keratoderma with wooly hair type II", "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair", "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair", "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"], "xref": ["DOID:0090128", "GARD:0005595", "MEDGEN:340124", "MESH:C535581", "OMIM:605676", "Orphanet:65282", "SCTID:719835006", "UMLS:C1854063"]}
{"category": ["biolink:Disease"], "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.", "id": "MONDO:0011582", "name": "Multiple mitochondrial dysfunctions syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NFU1 deficiency", "NFU1 fatal multiple mitochondrial dysfunctions syndrome", "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1", "multiple mitochondrial dysfunctions syndrome 1", "multiple mitochondrial dysfunctions syndrome type 1"], "xref": ["DOID:0080133", "GARD:0017661", "MEDGEN:478062", "OMIM:605711", "Orphanet:401869", "UMLS:C3276432"]}
{"category": ["biolink:Disease"], "description": "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.", "id": "MONDO:0011583", "name": "Cerebral amyloid angiopathy, app-related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCHWAD", "amyloidosis, Cerebroarterial, APP-related", "cerebral amyloid angiopathy, APP-related", "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"], "xref": ["DOID:0070028", "GARD:0024810", "MEDGEN:414044", "NCIT:C157147", "OMIM:605714", "UMLS:C2751536"]}
{"category": ["biolink:Disease"], "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", "id": "MONDO:0011584", "name": "Fanconi anemia complementation group d1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAD1", "FANCD1", "Fanconi anemia complementation group D1"], "xref": ["DOID:0111089", "GARD:0017449", "MEDGEN:325420", "MESH:C563980", "NCIT:C125705", "OMIM:605724", "Orphanet:319462", "SCTID:766707003", "UMLS:C1838457"]}
{"category": ["biolink:Disease"], "description": "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).", "id": "MONDO:0011585", "name": "Autosomal recessive distal spinal muscular atrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSMA2", "autosomal recessive distal spinal muscular atrophy type 2", "dHMNJ", "spinal muscular atrophy, distal, autosomal recessive, type 2"], "xref": ["DOID:0111065", "GARD:0010133", "MEDGEN:344189", "MESH:C535715", "OMIM:605726", "Orphanet:139552", "SCTID:763533003", "UMLS:C1854023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011586", "name": "Otosclerosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC2", "otosclerosis 2"], "xref": ["DOID:0060921", "GARD:0024811", "MEDGEN:340117", "MESH:C565302", "OMIM:605727", "UMLS:C1854022"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 15q21-q22.", "id": "MONDO:0011587", "name": "Cataract 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCSSO", "CTRCT25", "cataract 25", "cataract type 25"], "xref": ["DOID:0110254", "GARD:0018232", "MEDGEN:340116", "MESH:C565301", "OMIM:605728", "UMLS:C1854021"]}
{"category": ["biolink:Disease"], "description": "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.", "id": "MONDO:0011588", "name": "Platelet-type bleeding disorder 12", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDPLT12", "PGHS1 deficiency", "platelet COX1 deficiency", "platelet cyclooxygenase 1 deficiency"], "xref": ["DOID:0111058", "GARD:0010575", "MEDGEN:414043", "MESH:C567786", "OMIM:605735", "UMLS:C2751535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011589", "name": "Microphthalmia with coloboma 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOPCB2"], "xref": ["GARD:0015385", "MEDGEN:343030", "MESH:C565300", "OMIM:605738", "UMLS:C1854018"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011590", "name": "Anisomastia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anisomastia"], "xref": ["MEDGEN:381317", "MESH:C565299", "OMIM:605746", "UMLS:C1854013"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 9q13-q22.", "id": "MONDO:0011591", "name": "Cataract 26 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT26"], "xref": ["DOID:0110246", "GARD:0024812", "MEDGEN:381316", "MESH:C565298", "OMIM:605749", "UMLS:C1854003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011592", "name": "Exudative vitreoretinopathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EVR3", "exudative vitreoretinopathy 3"], "xref": ["DOID:0111409", "GARD:0015386", "MEDGEN:344184", "MESH:C565297", "OMIM:605750", "UMLS:C1854002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011593", "name": "Seizures, benign familial infantile, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["seizures, benign familial infantile, 2", "seizures, benign familial infantile, type 2"], "xref": ["DOID:0081115", "GARD:0016504", "MEDGEN:381313", "MESH:C565296", "OMIM:605751", "UMLS:C1853995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011594", "name": "Ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis"], "xref": ["MEDGEN:460321", "OMIM:605756", "UMLS:C3148970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011595", "name": "Nonsyndromic congenital nail disorder 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COIF", "COIF syndrome", "Iso-Kikuchi syndrome", "congenital onychodysplasia of the index fingers", "nonsyndromic congenital nail disorder type 7"], "xref": ["DOID:0080085", "GARD:0009761", "MEDGEN:1803839", "MESH:C538333", "OMIM:605779", "Orphanet:79144", "SCTID:403281007", "UMLS:C5574953"]}
{"category": ["biolink:Disease"], "description": "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.", "id": "MONDO:0011599", "name": "Birdshot chorioretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSCR", "birdshot chorioretinitis", "birdshot chorioretinopathy", "birdshot retinochoroiditis", "birdshot retinochoroidopathy", "vitiliginous choroiditis"], "xref": ["DOID:0111079", "GARD:0005926", "MEDGEN:340098", "MESH:C537630", "OMIM:605808", "Orphanet:179", "SCTID:231981005", "UMLS:C1853959", "icd11.foundation:1954035043"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "id": "MONDO:0011600", "name": "Congenital myasthenic syndrome 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS4A", "congenital myasthenic syndrome type 4A"], "xref": ["DOID:0110678", "GARD:0015387", "MEDGEN:908188", "OMIM:605809", "UMLS:C4225413"]}
{"category": ["biolink:Disease"], "description": "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.", "id": "MONDO:0011601", "name": "Neonatal intrahepatic cholestasis due to citrin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NICCD", "neonatal intrahepatic cholestasis caused by citrin deficiency", "neonatal intrahepatic cholestasis due to citrin deficiency"], "xref": ["DOID:0070341", "GARD:0010214", "MEDGEN:340091", "MESH:C536398", "NANDO:1200979", "OMIM:605814", "Orphanet:247598", "SCTID:717155003", "UMLS:C1853942"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.", "id": "MONDO:0011602", "name": "Autosomal recessive nonsyndromic hearing loss 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110485", "GARD:0022600", "MEDGEN:381303", "MESH:C565287", "OMIM:605818", "UMLS:C1853941"]}
{"category": ["biolink:Disease"], "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.", "id": "MONDO:0011603", "name": "Gne myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMRV", "HIBM2", "IBM2", "Nonaka myopathy", "distal myopathy with rimmed vacuoles", "distal myopathy, Nonaka type", "hereditary inclusion body myopathy type 2", "inclusion body myopathy autosomal recessive", "inclusion body myopathy type 2", "quadriceps-sparing myopathy"], "xref": ["DOID:0080718", "GARD:0009493", "MEDGEN:381298", "NANDO:1200218", "NORD:2011", "OMIM:605820", "Orphanet:602", "SCTID:702382000", "UMLS:C1853926"]}
{"category": ["biolink:Disease"], "description": "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.", "id": "MONDO:0011604", "name": "Spondylo-ocular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016740", "MEDGEN:900371", "OMIM:605822", "Orphanet:85194", "SCTID:715653007", "UMLS:C4225412", "icd11.foundation:1611450426"]}
{"category": ["biolink:Disease"], "description": "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.", "id": "MONDO:0011605", "name": "Generalized basaloid follicular hamartoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017042", "MEDGEN:343009", "MESH:C565284", "OMIM:605827", "Orphanet:168632", "SCTID:766928004", "UMLS:C1853919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011606", "name": "Baby rattle pelvis dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["baby rattle pelvic dysplasia", "baby rattle pelvis dysplasia"], "xref": ["GARD:0009289", "MEDGEN:340083", "MESH:C537794", "MESH:C565282", "OMIM:605838", "UMLS:C1853911"]}
{"category": ["biolink:Disease"], "description": "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0011610", "name": "Dimethylglycine dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DMG dehydrogenase deficiency", "DMGDH deficiency", "dimethylglycine dehydrogenase activity disease", "dimethylglycine dehydrogenase deficiency", "disorder of dimethylglycine dehydrogenase activity"], "xref": ["DOID:0081446", "GARD:0017185", "MEDGEN:343006", "MESH:C565278", "OMIM:605850", "Orphanet:243343", "SCTID:719449007", "UMLS:C1853892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011611", "name": "Short stature, intellectual disability, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting", "short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting"], "xref": ["MEDGEN:370814", "MESH:C566989", "OMIM:605856", "UMLS:C1970039"]}
{"category": ["biolink:Disease"], "description": "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.", "id": "MONDO:0011612", "name": "Glycine encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NKA", "Nonketotic Hyperglycinemia", "glycine encephalopathy", "non-ketotic hyperglycinemia", "nonketotic hyperglycinemia"], "xref": ["DOID:9268", "GARD:0007219", "ICD9:270.7", "MEDGEN:155625", "NANDO:1200984", "NANDO:2200476", "NCIT:C84937", "NORD:1512", "OMIMPS:605899", "Orphanet:407", "SCTID:237939006", "UMLS:C0751748", "icd11.foundation:1491869639"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.", "id": "MONDO:0011613", "name": "Autosomal recessive early-onset parkinson disease 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PINK1 Parkinson disease", "Parkinson disease caused by mutation in PINK1", "autosomal recessive early-onset Parkinson disease 6"], "xref": ["DOID:0060369", "GARD:0018605", "MEDGEN:342982", "MESH:C565276", "OMIM:605909", "UMLS:C1853833"]}
{"category": ["biolink:Disease"], "description": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.", "id": "MONDO:0011614", "name": "3-hydroxy-3-methylglutaryl-coa synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "HMG-CoA synthase deficiency", "HMG-CoA synthase-2 deficiency"], "xref": ["DOID:0081168", "GARD:0002712", "MEDGEN:414399", "MESH:C567784", "NANDO:2200498", "OMIM:605911", "Orphanet:35701", "SCTID:725286002", "UMLS:C2751532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011615", "name": "East texas bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017613", "MEDGEN:342980", "MESH:C565275", "OMIM:605913", "Orphanet:391320", "UMLS:C1853831"]}
{"category": ["biolink:Disease"], "description": "A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.", "id": "MONDO:0011616", "name": "Holoprosencephaly 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE6", "holoprosencephaly 6", "holoprosencephaly type 6"], "xref": ["DOID:0110874", "GARD:0024813", "MEDGEN:342979", "MESH:C565274", "OMIM:605934", "UMLS:C1853830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011617", "name": "Arthropathy, erosive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arthropathy, erosive"], "xref": ["MEDGEN:342978", "MESH:C565273", "OMIM:605935", "UMLS:C1853829"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011618", "name": "Liver fibrocystic disease and polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["liver fibrocystic disease and polydactyly"], "xref": ["MEDGEN:381278", "MESH:C565272", "OMIM:605944", "UMLS:C1853827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011619", "name": "Crumpled helices and small mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["crumpled helices and small mouth"], "xref": ["MEDGEN:342976", "MESH:C536217", "OMIM:605945", "UMLS:C1853826"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.", "id": "MONDO:0011620", "name": "Metaphyseal dysplasia, braun-tinschert type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["metaphyseal dysplasia, Braun-Tinschert type"], "xref": ["GARD:0016738", "MEDGEN:381277", "MESH:C565271", "OMIM:605946", "Orphanet:85188", "SCTID:717221005", "UMLS:C1853825"]}
{"category": ["biolink:Disease"], "description": "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.", "id": "MONDO:0011621", "name": "Acropectoral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACRP syndrome", "acropectoral syndrome", "syndactyly-preaxial polydactyly-sternal deformity syndrome"], "xref": ["GARD:0008485", "MEDGEN:342975", "MESH:C535664", "OMIM:605967", "Orphanet:85203", "SCTID:720412009", "UMLS:C1853812", "icd11.foundation:1060723089"]}
{"category": ["biolink:Disease"], "description": "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.", "id": "MONDO:0011624", "name": "Transaldolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TALDO deficiency", "transaldolase deficiency"], "xref": ["GARD:0010445", "ICD9:277.6", "MEDGEN:224855", "MESH:C563207", "OMIM:606003", "Orphanet:101028", "SCTID:124252008", "UMLS:C1291329", "icd11.foundation:424536994"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.", "id": "MONDO:0011625", "name": "Autosomal dominant nonsyndromic hearing loss 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110549", "GARD:0018113", "MEDGEN:340051", "MESH:C565267", "OMIM:606012", "UMLS:C1853760"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011626", "name": "Acromegaloid features, overgrowth, cleft palate, and hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acromegaloid features, overgrowth, cleft palate, and hernia"], "xref": ["MEDGEN:340050", "MESH:C535656", "OMIM:606049", "UMLS:C1853757"]}
{"category": ["biolink:Disease"], "description": "An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.", "id": "MONDO:0011628", "name": "Propionic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GLYCINEMIA, ketotic", "ketotic hyperglycinemia", "propionic acidemia", "propionic aciduria", "propionyl-CoA carboxylase deficiency"], "xref": ["DOID:14701", "GARD:0000467", "ICD10CM:E71.121", "MEDGEN:75694", "MESH:D056693", "NANDO:1200792", "NANDO:2200492", "NCIT:C85030", "NORD:714", "OMIM:606054", "Orphanet:35", "SCTID:69080001", "UMLS:C0268579"]}
{"category": ["biolink:Disease"], "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).", "id": "MONDO:0011629", "name": "Mogs-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIb", "CDG-IIb", "CDG2B", "MOGS-CDG", "MOGS-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIb", "congenital disorder of glycosylation type 2b", "congenital disorder of glycosylation type IIb", "glucosidase 1 deficiency"], "xref": ["DOID:0070254", "GARD:0010767", "MEDGEN:342954", "MESH:C565264", "OMIM:606056", "Orphanet:79330", "SCTID:725028009", "UMLS:C1853736"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.", "id": "MONDO:0011630", "name": "Retinitis pigmentosa 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FAM161A retinitis pigmentosa", "RP28", "retinitis pigmentosa 28", "retinitis pigmentosa caused by mutation in FAM161A", "retinitis pigmentosa type 28"], "xref": ["DOID:0110365", "GARD:0010394", "MEDGEN:244030", "OMIM:606068", "UMLS:C1419614"]}
{"category": ["biolink:Disease"], "description": "A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.", "id": "MONDO:0011631", "name": "Hemochromatosis type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ferroportin Disease", "HFE4", "SLC40A1 hereditary hemochromatosis", "ferroportin disease", "hereditary hemochromatosis caused by mutation in SLC40A1"], "xref": ["DOID:0111028", "GARD:0010094", "MEDGEN:340044", "MESH:C537249", "NORD:1137", "OMIM:606069", "Orphanet:139491", "Orphanet:647834", "Orphanet:648562", "SCTID:719975002", "UMLS:C1853733"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.", "id": "MONDO:0011632", "name": "Amyotrophic lateral sclerosis type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS21", "MATR3 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis caused by mutation in MATR3", "amyotrophic lateral sclerosis type 21"], "xref": ["DOID:0060212", "GARD:0018619", "MEDGEN:813851", "NCIT:C168755", "OMIM:606070", "UMLS:C3807521"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.", "id": "MONDO:0011633", "name": "Charcot-marie-tooth disease axonal type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2C", "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4", "HMSN2C", "TRPV4 Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2C"], "xref": ["DOID:0110182", "GARD:0001250", "MEDGEN:342947", "OMIM:606071", "Orphanet:99937", "SCTID:717010007", "UMLS:C1853710"]}
{"category": ["biolink:Disease"], "description": "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch", "id": "MONDO:0011634", "name": "Rippling muscle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0024814", "ICD9:359.29", "MEDGEN:342944", "MedDRA:10069417", "SCTID:709281006", "UMLS:C1853698", "icd11.foundation:894802822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011635", "name": "Goiter, multinodular 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MNG3", "goiter, multinodular 3", "goiter, multinodular, 3"], "xref": ["MEDGEN:342940", "MESH:C565260", "OMIM:606082", "UMLS:C1853686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011636", "name": "Diamond-blackfan anemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan anemia 2"], "xref": ["DOID:0111885", "GARD:0008283", "MEDGEN:344104", "MESH:C536130", "OMIM:606129", "UMLS:C1853666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011637", "name": "Sener syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sener syndrome"], "xref": ["MEDGEN:342924", "MESH:C537579", "OMIM:606156", "UMLS:C1853616"]}
{"category": ["biolink:Disease"], "description": "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.", "id": "MONDO:0011638", "name": "Neuroferritinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NBIA3", "adult basal ganglia disease", "ferritin-related neurodegeneration", "hereditary ferritinopathy", "neurodegeneration with brain iron accumulation type 3", "neuroferritinopathy"], "xref": ["DOID:0110737", "GARD:0010686", "ICD9:333.0", "MEDGEN:381211", "MESH:C548080", "NANDO:1200539", "NANDO:1200542", "OMIM:606159", "Orphanet:157846", "SCTID:699299001", "UMLS:C1853578"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.", "id": "MONDO:0011639", "name": "Diamond-blackfan anemia 15 with mandibulofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond Blackfan anaemia 15 with mandibulofacial dysostosis", "Diamond Blackfan anemia 15 with mandibulofacial dysostosis", "Diamond-Blackfan anaemia caused by mutation in RPS28", "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis", "Diamond-Blackfan anemia caused by mutation in RPS28", "RPS28 Diamond-Blackfan anaemia", "RPS28 Diamond-Blackfan anemia"], "xref": ["DOID:0111894", "GARD:0015390", "MEDGEN:902755", "OMIM:606164", "UMLS:C4225411"]}
{"category": ["biolink:Disease"], "description": "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.", "id": "MONDO:0011640", "name": "Genitopatellar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome", "genitopatellar syndrome"], "xref": ["GARD:0010994", "ICD9:759.89", "MEDGEN:381208", "MESH:C565255", "OMIM:606170", "Orphanet:85201", "SCTID:702367005", "UMLS:C1853566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011641", "name": "Baculum, congenital absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["baculum, congenital absence of"], "xref": ["MEDGEN:344078", "OMIM:606174", "UMLS:C1853565"]}
{"category": ["biolink:Disease"], "description": "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.", "id": "MONDO:0011642", "name": "Carnitine acetyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carnitine acetyltransferase deficiency"], "xref": ["GTR:AN0098794", "GTR:AN0098795", "ICD9:277.6", "MEDGEN:257042", "MESH:C563249", "OMIM:606175", "SCTID:124257002", "UMLS:C1443228"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.", "id": "MONDO:0011644", "name": "Pars planitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of pars plana of ciliary body", "pars plana of ciliary body inflammation", "pars plana of ciliary bodyitis", "pars planitis"], "xref": ["DOID:12731", "EFO:1001088", "GARD:0007339", "ICD9:363.21", "MEDGEN:14623", "MESH:D015868", "MedDRA:10034052", "NCIT:C34903", "OMIM:606177", "SCTID:314428001", "UMLS:C0030593", "icd11.foundation:127977237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011646", "name": "Laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy"], "xref": ["MEDGEN:381205", "MESH:C565252", "OMIM:606183", "UMLS:C1853556"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.", "id": "MONDO:0011647", "name": "Alzheimer disease 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD7", "Alzheimer disease 7", "Alzheimer disease type 7", "Alzheimer disease-7", "Alzheimer's disease 7", "Alzheimer's disease type 7"], "xref": ["DOID:0110039", "GARD:0016510", "MEDGEN:342907", "MESH:C565251", "OMIM:606187", "UMLS:C1853555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011648", "name": "Radiation-induced meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0008491", "MEDGEN:381204", "MESH:C536266", "OMIM:606190", "UMLS:C1853554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011651", "name": "Intellectual disability, short stature, facial anomalies, and joint dislocations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intellectual developmental disorder with short stature, facial anomalies, and speech defects"], "xref": ["MEDGEN:342897", "MESH:C565248", "OMIM:606220", "UMLS:C1853507"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.", "id": "MONDO:0011652", "name": "Phelan-mcdermid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHMDS", "Phelan McDermid syndrome", "Phelan-McDermid syndrome"], "xref": ["DECIPHER:20", "DOID:0080354", "GARD:0010130", "ICD9:758.39", "MEDGEN:339994", "MESH:C536801", "NCIT:C157124", "NORD:1573", "OMIM:606232", "Orphanet:48652", "SCTID:699310000", "UMLS:C1853490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011653", "name": "Thyroid cancer, nonmedullary, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NMTC3", "thyroid cancer, nonmedullary, 3", "thyroid carcinoma, nonmedullary, 3"], "xref": ["GARD:0015391", "MEDGEN:903332", "OMIM:606240", "UMLS:C4225410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011654", "name": "Intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:342889", "MESH:C565246", "OMIM:606242", "UMLS:C1853480"]}
{"category": ["biolink:Disease"], "description": "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.", "id": "MONDO:0011655", "name": "Alveolar soft part sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASPS", "adult alveolar soft Part sarcoma", "adult alveolar soft part sarcoma", "adult alveolar soft-Part sarcoma", "alveolar soft Part sarcoma", "alveolar soft part sarcoma", "alveolar soft part sarcoma (disease)", "alveolar soft-part sarcoma"], "xref": ["DOID:4239", "EFO:0007143", "GARD:0005654", "HP:0012218", "ICD9:171.9", "ICDO:9581/3", "MEDGEN:61652", "MESH:D018234", "MedDRA:10001882", "NANDO:2200063", "NCIT:C3750", "NCIT:C7943", "NORD:760", "OMIM:606243", "ONCOTREE:ASPS", "Orphanet:163699", "SCTID:404056007", "UMLS:C0206657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011656", "name": "Paget disease of bone 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PDB4"], "xref": ["DOID:0081367", "MEDGEN:339991", "MESH:C565240", "OMIM:606263", "UMLS:C1853473"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.", "id": "MONDO:0011657", "name": "Autosomal dominant nonsyndromic hearing loss 24", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110554", "GARD:0009166", "MEDGEN:377905", "MESH:C565239", "OMIM:606282", "UMLS:C1853451"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.", "id": "MONDO:0011658", "name": "Autosomal recessive early-onset parkinson disease 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PARK7 Parkinson disease", "Parkinson disease caused by mutation in PARK7", "autosomal recessive early-onset Parkinson disease 7", "autosomal recessive early-onset Parkinson disease type 7"], "xref": ["DOID:0060370", "GARD:0018606", "MEDGEN:344049", "MESH:C565238", "OMIM:606324", "UMLS:C1853445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011659", "name": "Heterotaxy, visceral, 3, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HTX3", "heterotaxy, visceral, 3, autosomal"], "xref": ["DOID:0051018", "GARD:0024815", "MEDGEN:339983", "MESH:C565237", "OMIM:606325", "UMLS:C1853444"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.", "id": "MONDO:0011660", "name": "Autosomal dominant nonsyndromic hearing loss 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110552", "GARD:0009167", "MEDGEN:419894", "MESH:C538197", "OMIM:606346", "UMLS:C2931767"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.", "id": "MONDO:0011661", "name": "Inflammatory bowel disease 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IBD5", "inflammatory bowel disease 5", "inflammatory bowel disease type 5"], "xref": ["DOID:0110889", "MEDGEN:342879", "MESH:C565234", "OMIM:606348", "UMLS:C1853438"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.", "id": "MONDO:0011662", "name": "Pathological gambling", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["compulsive gambling", "pathological gambling"], "xref": ["DOID:12399", "EFO:1001926", "ICD10CM:F63.0", "ICD9:312.31", "MEDGEN:14632", "MESH:D005715", "NCIT:C94335", "OMIM:606349", "SCTID:18085000", "UMLS:C0030662"]}
{"category": ["biolink:Disease"], "description": "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.", "id": "MONDO:0011663", "name": "Juvenile primary lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JPLS", "juvenile PLS"], "xref": ["GARD:0004485", "MEDGEN:342870", "MESH:C536416", "OMIM:606353", "Orphanet:247604", "SCTID:717964007", "UMLS:C1853396"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011664", "name": "Immunodeficiency due to cd25 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Interleukin-2 receptor alpha chain deficiency", "immunodeficiency due to CD25 deficiency"], "xref": ["DOID:0111968", "GARD:0017049", "MEDGEN:377894", "MESH:C565232", "NANDO:2200736", "OMIM:606367", "Orphanet:169100", "UMLS:C1853392", "icd11.foundation:1705860123"]}
{"category": ["biolink:Disease"], "description": "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.", "id": "MONDO:0011667", "name": "Maturity-onset diabetes of the young type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MODY, type IV", "MODY4", "PDX1 maturity-onset diabetes of the young (disease)", "PDX1-associated monogenic diabetes", "maturity onset diabetes of the Young, type 4", "maturity-onset diabetes of the young (disease) caused by mutation in PDX1"], "xref": ["DOID:0111103", "GARD:0010659", "MEDGEN:318863", "MESH:C563451", "NANDO:2201072", "NCIT:C129746", "OMIM:606392", "SCTID:609571007", "UMLS:C1833382"]}
{"category": ["biolink:Disease"], "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.", "id": "MONDO:0011668", "name": "Maturity-onset diabetes of the young type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MODY6", "NEUROD1 maturity-onset diabetes of the young (disease)", "NEUROD1-associated monogenic diabetes", "maturity onset diabetes of the Young, type 6", "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1", "maturity-onset diabetes of the young 6", "neurogenic differentiation Factor 1-associated monogenic diabetes"], "xref": ["DOID:0111104", "GARD:0010660", "MEDGEN:344030", "MESH:C565231", "NCIT:C129745", "OMIM:606394", "SCTID:609573005", "UMLS:C1853371"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.", "id": "MONDO:0011669", "name": "Hypotonia-cystinuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCS", "cystinuria with mitochondrial disease", "hypotonia-cystinuria syndrome", "hypotonia-cystinuria syndrome type 1", "hypotonia-cystinuria type 1 syndrome"], "xref": ["DOID:0060858", "GARD:0016998", "MEDGEN:341133", "MESH:C564710", "OMIM:606407", "Orphanet:163690", "Orphanet:238517", "SCTID:721173005", "UMLS:C1848030", "icd11.foundation:1742079513", "icd11.foundation:1852649756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011670", "name": "Ehlers-danlos syndrome due to tenascin-x deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS, classic-like type", "Ehlers-Danlos syndrome due to tenascin-X deficiency", "Ehlers-Danlos syndrome, classic-like type", "Ehlers-Danlos syndrome, classic-like, 1"], "xref": ["DOID:0080731", "GARD:0008507", "MEDGEN:336244", "MESH:C536193", "OMIM:606408", "Orphanet:230839", "UMLS:C1848029", "icd11.foundation:1840696236"]}
{"category": ["biolink:Disease"], "description": "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.", "id": "MONDO:0011671", "name": "Huntington disease-like 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HDL2", "Huntington disease-like 2", "Huntington disease-like type 2"], "xref": ["DOID:0090104", "GARD:0016874", "MEDGEN:341120", "MESH:C564708", "OMIM:606438", "Orphanet:98934", "SCTID:721228006", "UMLS:C1847987"]}
{"category": ["biolink:Disease"], "description": "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.", "id": "MONDO:0011672", "name": "Persistent polyclonal b-cell lymphocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPBL", "persistent polyclonal B-cell lymphocytosis", "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes"], "xref": ["GARD:0017366", "MEDGEN:341117", "MESH:C564707", "OMIM:606445", "Orphanet:300324", "SCTID:763864008", "UMLS:C1847973"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.", "id": "MONDO:0011673", "name": "Autosomal dominant nonsyndromic hearing loss 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110560", "GARD:0018114", "MEDGEN:341116", "MESH:C564706", "OMIM:606451", "UMLS:C1847972"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.", "id": "MONDO:0011674", "name": "Charcot-marie-tooth disease dominant intermediate b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTDI1", "CMTDIB", "Charcot-Marie-Tooth disease caused by mutation in DNM2", "Charcot-Marie-Tooth disease dominant intermediate type B", "Charcot-Marie-Tooth disease, axonal type 2M", "Charcot-Marie-Tooth disease, dominant Intermediate type B", "DI-CMTB", "DNM2 Charcot-Marie-Tooth disease"], "xref": ["DOID:0110197", "GARD:0012438", "MEDGEN:338346", "OMIM:606482", "Orphanet:100044", "SCTID:765745007", "UMLS:C1847902"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.", "id": "MONDO:0011675", "name": "Charcot-marie-tooth disease, axonal, type 2gg", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2GG", "CMTDIA", "Charcot-Marie-Tooth disease dominant intermediate type A", "autosomal dominant intermediate Charcot-Marie-Tooth disease type A"], "xref": ["DOID:0110202", "GARD:0012437", "MEDGEN:1794143", "MESH:C564702", "OMIM:606483", "Orphanet:100043", "SCTID:765744006", "UMLS:C5561933"]}
{"category": ["biolink:Disease"], "description": "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.", "id": "MONDO:0011676", "name": "Phace syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pascual-Castroviejo syndrome type 2"], "xref": ["GARD:0008338", "MEDGEN:376231", "MedDRA:10068032", "NORD:1927", "OMIM:606519", "Orphanet:42775", "UMLS:C1847874", "icd11.foundation:1825849023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011677", "name": "Megarbane syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Megarbane syndrome"], "xref": ["MEDGEN:339864", "MESH:C536145", "OMIM:606527", "UMLS:C1847871"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011678", "name": "Homozygous 11p15-p14 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 11p15-p14 deletion syndrome", "homozygous 11P15-p14 deletion syndrome"], "xref": ["GARD:0024816", "MEDGEN:338336", "MESH:C564701", "OMIM:606528", "UMLS:C1847866"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of craniosynostosis.", "id": "MONDO:0011679", "name": "Craniosynostosis syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive craniosynostosis", "craniosynostosis syndrome, autosomal recessive", "craniosynostosis, autosomal recessive"], "xref": ["GARD:0024817", "MEDGEN:338335", "MESH:C564700", "OMIM:606529", "UMLS:C1847865"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.", "id": "MONDO:0011680", "name": "Autosomal recessive congenital ichthyosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI3", "autosomal recessive congenital ichthyosis type 3", "ichthyosis, congenital, autosomal recessive type 3"], "xref": ["DOID:0060711", "GARD:0015393", "MEDGEN:761665", "MESH:C564699", "OMIM:606545", "UMLS:C3539888"]}
{"category": ["biolink:Disease"], "description": "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.", "id": "MONDO:0011681", "name": "Episodic ataxia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PATX", "periodic vestibulocerebellar ataxia"], "xref": ["DOID:0050992", "GARD:0016703", "MEDGEN:376222", "MESH:C564698", "OMIM:606552", "Orphanet:79136", "SCTID:718754008", "UMLS:C1847843", "icd11.foundation:1119711189"]}
{"category": ["biolink:Disease"], "description": "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.", "id": "MONDO:0011682", "name": "Episodic ataxia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["episodic ataxia-vertigo-tinnitus-myokymia syndrome"], "xref": ["DOID:0050991", "GARD:0016702", "MEDGEN:376220", "MESH:C564697", "OMIM:606554", "Orphanet:79135", "SCTID:718755009", "UMLS:C1847839"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.", "id": "MONDO:0011683", "name": "Oculocutaneous albinism type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA4", "SLC45A2 oculocutaneous albinism", "oculocutaneous albinism caused by mutation in SLC45A2"], "xref": ["DOID:0070098", "GARD:0016722", "MEDGEN:338324", "MESH:C564696", "OMIM:606574", "Orphanet:79435", "SCTID:715632003", "UMLS:C1847836", "icd11.foundation:1286886811"]}
{"category": ["biolink:Disease"], "description": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).", "id": "MONDO:0011686", "name": "Dna ligase iv deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNA ligase IV deficiency", "LIG4 syndrome", "ligase 4 syndrome"], "xref": ["DOID:0060021", "GARD:0015000", "MEDGEN:339855", "MESH:C564694", "NCIT:C122657", "OMIM:606593", "Orphanet:99812", "SCTID:724177005", "UMLS:C1847827"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.", "id": "MONDO:0011687", "name": "Charcot-marie-tooth disease axonal type 2f", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2F", "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1", "HSPB1 Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2F"], "xref": ["DOID:0110163", "GARD:0009194", "MEDGEN:335784", "MESH:C535413", "OMIM:606595", "Orphanet:99940", "SCTID:719510006", "UMLS:C1847823"]}
{"category": ["biolink:Disease"], "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.", "id": "MONDO:0011688", "name": "Muscular dystrophy-dystroglycanopathy type b5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MDC1C", "MDDGB5", "congenital muscular dystrophy-FKRP related", "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5", "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5"], "xref": ["DOID:0110635", "GARD:0024818", "MEDGEN:335764", "MESH:C564691", "OMIM:606612", "Orphanet:52428", "UMLS:C1847759"]}
{"category": ["biolink:Disease"], "description": "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0011690", "name": "Camurati-engelmann disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare", "mondo:speculative"], "synonym": ["Camurati-Engelmann disease, type 2"], "xref": ["DOID:0061230", "MEDGEN:419470", "MESH:C537978", "OMIM:606631", "UMLS:C2931683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011691", "name": "Amyotrophic lateral sclerosis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["amyotrophic lateral sclerosis 3"], "xref": ["DOID:0060195", "GARD:0010501", "MEDGEN:339829", "MESH:C564688", "OMIM:606640", "UMLS:C1847735"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.", "id": "MONDO:0011694", "name": "Spinocerebellar ataxia type 15/16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA15/16", "SCAR16", "spinocerebellar ataxia type 15", "spinocerebellar ataxia type 15/16", "spinocerebellar ataxia type 16"], "xref": ["DOID:0050965", "DOID:0050966", "GARD:0010477", "MEDGEN:338301", "MESH:C564685", "NCIT:C150250", "OMIM:606658", "Orphanet:98769", "Orphanet:98770", "SCTID:716724006", "UMLS:C1847725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011695", "name": "Melanoma, uveal, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["UVM1", "melanoma, uveal, susceptibility to, 1", "melanoma, uveal, susceptibility to, type 1"], "xref": ["GARD:0027802", "MEDGEN:376198", "OMIM:606660", "UMLS:C1847724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011696", "name": "Melanoma, uveal, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["UVM2", "melanoma, uveal, susceptibility to, 2", "melanoma, uveal, susceptibility to, type 2"], "xref": ["GARD:0027803", "MEDGEN:339826", "OMIM:606661", "UMLS:C1847723"]}
{"category": ["biolink:Disease"], "description": "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.", "id": "MONDO:0011697", "name": "Waardenburg syndrome type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WS2C"], "xref": ["DOID:0110951", "GARD:0015396", "MEDGEN:335755", "MESH:C564684", "OMIM:606662", "UMLS:C1847722"]}
{"category": ["biolink:Disease"], "description": "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.", "id": "MONDO:0011698", "name": "Glycine n-methyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GNMT deficiency", "Glycine N-methyltransferase deficiency", "glycine N-methyltransferase deficiency", "hypermethioninemia due to GNMT deficiency", "hypermethioninemia due to glycine N-methyltransferase deficiency"], "xref": ["DOID:0111037", "GARD:0010764", "MEDGEN:338300", "OMIM:606664", "Orphanet:289891", "SCTID:763720007", "UMLS:C1847720", "icd11.foundation:16192453"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.", "id": "MONDO:0011699", "name": "Inflammatory bowel disease 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD8", "inflammatory bowel disease 8", "inflammatory bowel disease type 8"], "xref": ["DOID:0110904", "MEDGEN:335753", "MESH:C564682", "OMIM:606668", "UMLS:C1847719"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.", "id": "MONDO:0011700", "name": "Inflammatory bowel disease 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD6", "inflammatory bowel disease 6", "inflammatory bowel disease type 6"], "xref": ["DOID:0110907", "MEDGEN:376191", "MESH:C564681", "OMIM:606674", "UMLS:C1847692"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.", "id": "MONDO:0011701", "name": "Inflammatory bowel disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD4", "inflammatory bowel disease 4", "inflammatory bowel disease type 4"], "xref": ["DOID:0110903", "MEDGEN:339822", "MESH:C564680", "OMIM:606675", "UMLS:C1847691"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.", "id": "MONDO:0011702", "name": "Dilated cardiomyopathy 1l", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1L", "SGCD familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1L", "dilated cardiomyopathy type 1L", "familial isolated dilated cardiomyopathy caused by mutation in SGCD"], "xref": ["DOID:0110436", "GARD:0015397", "MEDGEN:335735", "MESH:C564679", "OMIM:606685", "UMLS:C1847667"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011703", "name": "Spongiform encephalopathy with neuropsychiatric features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spongiform encephalopathy with neuropsychiatric features"], "xref": ["GARD:0024819", "MEDGEN:339812", "MESH:C564678", "OMIM:606688", "UMLS:C1847650"]}
{"category": ["biolink:Disease"], "description": "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.", "id": "MONDO:0011705", "name": "Lymphangioleiomyomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["lymphangioleiomyomatosis", "lymphangioleiomyomatosis, somatic", "lymphangiomyomatosis"], "xref": ["GARD:0024820", "ICD10CM:J84.81", "ICDO:9174/1", "MEDGEN:148366", "MESH:D018192", "NANDO:1200430", "NCIT:C3725", "OMIM:606690", "UMLS:C0751674", "icd11.foundation:902628446"]}
{"category": ["biolink:Disease"], "description": "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.", "id": "MONDO:0011706", "name": "Kufor-rakeb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kufor Rakeb Syndrome", "Kufor-Rakeb syndrome", "PARK9"], "xref": ["DOID:0060556", "GARD:0009174", "MEDGEN:338281", "MESH:C537177", "NORD:1959", "OMIM:606693", "Orphanet:306674", "UMLS:C1847640"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.", "id": "MONDO:0011708", "name": "Autosomal dominant nonsyndromic hearing loss 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110563", "GARD:0018115", "MEDGEN:376173", "MESH:C564675", "OMIM:606705", "UMLS:C1847626"]}
{"category": ["biolink:Disease"], "description": "Split-hand/foot malformation mapped to chromosome 2q31.", "id": "MONDO:0011709", "name": "Split hand-foot malformation 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFM5", "split hand-foot malformation type 5", "split-hand/foot malformation type 5"], "xref": ["DOID:0090022", "GARD:0015398", "MEDGEN:338277", "MESH:C564674", "NCIT:C75002", "OMIM:606708", "UMLS:C1847622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011710", "name": "Specific language impairment 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SLI1", "specific language impairment 1", "specific language impairment QTL, 1"], "xref": ["MEDGEN:339804", "OMIM:606711", "UMLS:C1847614"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011711", "name": "Specific language impairment 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SLI2", "specific language impairment 2", "specific language impairment QTL, 2"], "xref": ["MEDGEN:338273", "OMIM:606712", "UMLS:C1847605"]}
{"category": ["biolink:Disease"], "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.", "id": "MONDO:0011712", "name": "Van der woude syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GRHL3 van der Woude syndrome", "Van Der Woude syndrome type 2", "van der Woude syndrome 2", "van der Woude syndrome caused by mutation in GRHL3"], "xref": ["GARD:0007846", "MEDGEN:338272", "MESH:C536529", "OMIM:606713", "UMLS:C1847604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011713", "name": "Melanoma-pancreatic cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["melanoma-pancreatic cancer syndrome"], "xref": ["GARD:0018473", "MEDGEN:325450", "MESH:C563985", "NCIT:C176904", "OMIM:606719", "UMLS:C1838547"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011714", "name": "Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lipodystrophy, familial partial, type 7", "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"], "xref": ["GARD:0018038", "MEDGEN:813897", "OMIM:606721", "UMLS:C3807567"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.", "id": "MONDO:0011715", "name": "Seckel syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RBBP8 Seckel syndrome", "SCKL2", "Seckel syndrome 2", "Seckel syndrome caused by mutation in RBBP8", "Seckel syndrome type 2", "Seckel-type dwarfism 2", "microcephalic primordial dwarfism 2"], "xref": ["DOID:0070013", "GARD:0015399", "MEDGEN:338264", "MESH:C537534", "OMIM:606744", "UMLS:C1847572"]}
{"category": ["biolink:Disease"], "description": "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.", "id": "MONDO:0011716", "name": "Acute hemorrhagic leukoencephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHL", "acute hemorrhagic leukoencephalitis"], "xref": ["DOID:10992", "EFO:0007132", "GARD:0008629", "ICD9:136.9", "MEDGEN:4937", "MESH:D004684", "NCIT:C84535", "OMIM:606752", "SCTID:72986009", "UMLS:C0014077"]}
{"category": ["biolink:Disease"], "description": "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.", "id": "MONDO:0011717", "name": "Hyperinsulinism-hyperammonemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GDH hyperinsulinism", "GLUD1 hyperinsulinism", "glutamate dehydrogenase 1 hyperinsulinism", "hi/HA syndrome", "hyperinsulinemic hypoglycemia, familial, type 6", "hyperinsulinism-hyperammonemia syndrome", "hyperinsulinism/hyperammonemia syndrome"], "xref": ["DOID:0070217", "GARD:0009931", "MEDGEN:376153", "MESH:C538375", "NCIT:C131832", "OMIM:606762", "Orphanet:35878", "UMLS:C1847555"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.", "id": "MONDO:0011718", "name": "Primary ciliary dyskinesia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD2", "DNAAF3 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 2", "primary ciliary dyskinesia caused by mutation in DNAAF3", "primary ciliary dyskinesia type 2"], "xref": ["DOID:0110626", "GARD:0015400", "MEDGEN:338258", "MESH:C535277", "OMIM:606763", "UMLS:C1847554"]}
{"category": ["biolink:Disease"], "description": "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.", "id": "MONDO:0011719", "name": "Gastrointestinal stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GIST", "Gastrointestinal Stromal Tumors", "gastrointestinal stromal neoplasm", "gastrointestinal stromal sarcoma", "gastrointestinal stromal tumor", "gastrointestinal stromal tumor (gist)", "gastrointestinal stromal tumor, familial, isolated cases", "gastrointestinal stromal tumor, isolated cases", "gastrointestinal stromal tumour (gist)", "gist"], "xref": ["DOID:9253", "GARD:0008598", "ICD10CM:C49.A", "ICDO:8936/1", "MEDGEN:116049", "MESH:D046152", "MedDRA:10051066", "NCIT:C3868", "NORD:1174", "OMIM:606764", "ONCOTREE:GIST", "Orphanet:44890", "SCTID:420120006", "UMLS:C0238198"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.", "id": "MONDO:0011720", "name": "Spermatogenic failure 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SLC26A8 azoospermia", "azoospermia caused by mutation in SLC26A8", "spermatogenic failure 3", "spermatogenic failure type 3"], "xref": ["DOID:0070168", "GARD:0018399", "MEDGEN:1648302", "MESH:C564665", "OMIM:606766", "UMLS:C4721889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011721", "name": "Distal myopathy with anterior tibial onset", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal anterior compartment myopathy"], "xref": ["DOID:0111187", "GARD:0017080", "MEDGEN:335706", "MESH:C564664", "OMIM:606768", "Orphanet:178400", "UMLS:C1847532", "icd11.foundation:651559966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011722", "name": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOMES syndrome"], "xref": ["GARD:0017648", "MEDGEN:376145", "MESH:C564660", "OMIM:606772", "Orphanet:397973", "UMLS:C1847522"]}
{"category": ["biolink:Disease"], "description": "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.", "id": "MONDO:0011723", "name": "Hemifacial myohyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hemifacial myohyperplasia"], "xref": ["GARD:0010084", "ICD9:744.89", "MEDGEN:339781", "MESH:C535862", "OMIM:606773", "Orphanet:141148", "SCTID:699420006", "UMLS:C1847521", "icd11.foundation:1338941880"]}
{"category": ["biolink:Disease"], "description": "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.", "id": "MONDO:0011724", "name": "Encephalopathy due to glut1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["De Vivo disease", "GLUT1 deficiency syndrome 1, infantile onset, severe", "GLUT1 deficiency syndrome type 1", "GLUT1-DS", "Glucose Transporter Type 1 Deficiency Syndrome", "encephalopathy due to GLUT1 deficiency", "glucose transporter type 1 deficiency", "glut-1 deficiency syndrome"], "xref": ["DOID:0070561", "GARD:0009265", "MEDGEN:1645412", "MESH:C536830", "NANDO:1200799", "NANDO:2200545", "NORD:1188", "OMIM:606777", "Orphanet:71277", "UMLS:C4551966", "icd11.foundation:1231079185"]}
{"category": ["biolink:Disease"], "description": "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.", "id": "MONDO:0011725", "name": "Crigler-najjar syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Arias syndrome", "UGT deficiency type 2", "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2", "bilirubin-UGT deficiency type 2", "hereditary unconjugated hyperbilirubinemia type 2"], "xref": ["GARD:0008683", "MEDGEN:419718", "MESH:C536213", "MedDRA:10011387", "OMIM:606785", "Orphanet:79235", "SCTID:68067009", "UMLS:C2931132", "icd11.foundation:846453488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011726", "name": "Peripheral arterial occlusive disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral arterial occlusive disease 1", "peripheral arterial occlusive disease type 1"], "xref": ["MEDGEN:376140", "MESH:C564658", "OMIM:606787", "UMLS:C1847493"]}
{"category": ["biolink:Disease"], "description": "Involuntary twitching of the eyelid.", "id": "MONDO:0011728", "name": "Benign essential blepharospasm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign essential blepharospasm", "blepharospasm"], "xref": ["DOID:529", "GARD:0027804", "ICD10CM:G24.5", "ICD9:333.81", "MEDGEN:419660", "MESH:D001764", "SCTID:59026006", "UMLS:C2930898", "icd11.foundation:1127235959"]}
{"category": ["biolink:Disease"], "description": "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.", "id": "MONDO:0011730", "name": "Fumaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fumarase deficiency", "fumaric aciduria"], "xref": ["DOID:0111261", "GARD:0006476", "ICD9:282.3", "MEDGEN:87458", "MESH:C538191", "NANDO:2200520", "OMIM:606812", "Orphanet:24", "SCTID:237983002", "UMLS:C0342770"]}
{"category": ["biolink:Disease"], "description": "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.", "id": "MONDO:0011731", "name": "Glucose-galactose malabsorption", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SGLT1 deficiency", "glucose-galactose malabsorption"], "xref": ["DOID:0070563", "GARD:0006521", "ICD9:271.3", "MEDGEN:78647", "MESH:C562602", "MedDRA:10066388", "NANDO:2200909", "NORD:1190", "OMIM:606824", "Orphanet:35710", "SCTID:190749000", "UMLS:C0268186", "icd11.foundation:2108415931"]}
{"category": ["biolink:Disease"], "description": "Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.", "id": "MONDO:0011732", "name": "Familial digital arthropathy-brachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016735", "MEDGEN:335678", "MESH:C564656", "NCIT:C175208", "OMIM:606835", "Orphanet:85169", "UMLS:C1847406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011733", "name": "Parasomnia, sleep bruxism type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PSMNSB", "parasomnia, sleep bruxism type"], "xref": ["GARD:0010195", "MEDGEN:339751", "MESH:C536389", "OMIM:606840", "UMLS:C1847399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011734", "name": "Cardioneuromyopathy with hyaline masses and nemaline rods", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cardioneuromyopathy with hyaline masses and nemaline rods"], "xref": ["MEDGEN:339747", "MESH:C564655", "OMIM:606842", "UMLS:C1847387"]}
{"category": ["biolink:Disease"], "description": "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.", "id": "MONDO:0011735", "name": "Hyper-igm syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CD40 hyper-IgM syndrome", "HIGM3", "hyper-IgM syndrome caused by mutation in CD40", "hyper-IgM syndrome due to CD40 deficiency", "immunodeficiency with hyper-IgM type 3"], "xref": ["DOID:0060023", "GARD:0010579", "MEDGEN:328419", "OMIM:606843", "Orphanet:101090", "UMLS:C1720957"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011736", "name": "Cree intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cree intellectual disability syndrome", "Cree mental retardation syndrome"], "xref": ["MEDGEN:335673", "MESH:C564654", "OMIM:606851", "UMLS:C1847361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011737", "name": "Parkinson disease 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PARK10", "Parkinson disease 10"], "xref": ["GARD:0018607", "MEDGEN:339741", "MESH:C564653", "OMIM:606852", "UMLS:C1847360"]}
{"category": ["biolink:Disease"], "description": "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.", "id": "MONDO:0011738", "name": "Bilateral frontoparietal polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["bilateral frontoparietal polymicrogyria"], "xref": ["DOID:0080922", "GARD:0010784", "MEDGEN:376107", "MESH:C564652", "NCIT:C148367", "OMIM:606854", "Orphanet:101070", "UMLS:C1847352", "icd11.foundation:1119484699"]}
{"category": ["biolink:Disease"], "description": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.", "id": "MONDO:0011739", "name": "Pancreatic cancer, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["PALLD familial pancreatic carcinoma", "familial pancreatic carcinoma caused by mutation in PALLD", "pancreatic cancer, susceptibility to, 1", "pancreatic cancer, susceptibility to, type 1"], "xref": ["GARD:0027805", "MEDGEN:339739", "OMIM:606856", "UMLS:C1847351"]}
{"category": ["biolink:Disease"], "description": "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.", "id": "MONDO:0011740", "name": "Carney-stratakis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Carney dyad", "Carney-Stratakis dyad", "Carney-Stratakis syndrome", "gist-paraganglioma dyad", "paraganglioma and gastric stromal sarcoma"], "xref": ["DOID:0080533", "GARD:0010643", "MEDGEN:376098", "MESH:C564650", "NCIT:C94831", "OMIM:606864", "Orphanet:97286", "SCTID:722377004", "UMLS:C1847319"]}
{"category": ["biolink:Disease"], "description": "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.", "id": "MONDO:0011743", "name": "Alzheimer disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD4", "Alzheimer disease 4", "Alzheimer disease type 4", "Alzheimer disease-4", "Alzheimer's disease 4", "Alzheimer's disease type 4", "familial Alzheimer disease, type 4", "familial Alzheimer's disease, type 4"], "xref": ["DOID:0110040", "GARD:0016511", "MEDGEN:376072", "MESH:C536596", "NCIT:C123413", "OMIM:606889", "UMLS:C1847200"]}
{"category": ["biolink:Disease"], "description": "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.", "id": "MONDO:0011744", "name": "Primary intraosseous venous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intraosseous hemangioma", "osseous venous malformation"], "xref": ["GARD:0016961", "MEDGEN:376071", "MESH:C564648", "OMIM:606893", "Orphanet:140436", "SCTID:764100007", "UMLS:C1847197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011745", "name": "Duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery"], "xref": ["MEDGEN:339705", "MESH:C535722", "OMIM:606894", "UMLS:C1847196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011746", "name": "Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch"], "xref": ["MEDGEN:376067", "MESH:C538148", "OMIM:606895", "UMLS:C1847185"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.", "id": "MONDO:0011748", "name": "Usher syndrome type 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1G", "USH1G Usher syndrome", "Usher syndrome caused by mutation in USH1G", "Usher syndrome type 1G"], "xref": ["DOID:0110834", "GARD:0015404", "MEDGEN:339683", "MESH:C564643", "OMIM:606943", "UMLS:C1847089"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.", "id": "MONDO:0011749", "name": "Oculocutaneous albinism type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OCA1B", "Yellow oculocutaneous albinism", "albinism, Yellow mutant type", "oculocutaneous albinism, Amish type", "platinum oculocutaneous albinism"], "xref": ["DOID:0070095", "GARD:0000594", "MEDGEN:337712", "MESH:C537729", "OMIM:606952", "Orphanet:79434", "UMLS:C1847024", "icd11.foundation:1233842528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011751", "name": "Copd, severe early onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["COPD, rate of decline of lung function in", "COPD, severe early-onset", "pulmonary disease, chronic obstructive, severe early-onset"], "xref": ["MEDGEN:376022", "UMLS:C1847014"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.", "id": "MONDO:0011752", "name": "Nephronophthisis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP4", "NPHP4 nephronophthisis (disease)", "nephronophthisis (disease) caused by mutation in NPHP4", "nephronophthisis 4", "nephronophthisis type 4"], "xref": ["DOID:0111115", "GARD:0024821", "MEDGEN:339667", "MESH:C564640", "OMIM:606966", "SCTID:446989009", "UMLS:C1847013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011754", "name": "Familial hyperreninemic hypoaldosteronism type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["FHHA2", "aldosterone synthase deficiency unrelated to CYP11B2", "aldosterone synthase deficiency unrelated to the aldosterone synthase gene", "hyperreninemic hypoaldosteronism, familial, type 2"], "xref": ["GARD:0024822", "MEDGEN:335571", "MESH:C564638", "OMIM:606984", "Orphanet:99764", "UMLS:C1846990"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011755", "name": "Senior-loken syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SLSN3"], "xref": ["GARD:0015405", "MEDGEN:335569", "MESH:C564637", "OMIM:606995", "UMLS:C1846980"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.", "id": "MONDO:0011756", "name": "Senior-loken syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP4 Senior-Loken syndrome", "Senior-Loken syndrome 4", "Senior-Loken syndrome caused by mutation in NPHP4", "Senior-Loken syndrome type 4"], "xref": ["DOID:0061278", "GARD:0015406", "MEDGEN:337697", "MESH:C537581", "OMIM:606996", "UMLS:C1846979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011757", "name": "Brachydactyly type a1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDA1B"], "xref": ["DOID:0110974", "GARD:0015407", "MEDGEN:339652", "MESH:C564635", "OMIM:607004", "UMLS:C1846949"]}
{"category": ["biolink:Disease"], "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.", "id": "MONDO:0011758", "name": "Hurler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hurler disease", "Hurler syndrome", "MPS I H", "MPS1H", "MPSIH", "mucopolysaccharidosis type 1H", "mucopolysaccharidosis type IH"], "xref": ["DOID:0111390", "GARD:0012559", "MEDGEN:39698", "NANDO:1200094", "NANDO:2201168", "NCIT:C61261", "OMIM:607014", "Orphanet:93473", "SCTID:65327002", "UMLS:C0086795"]}
{"category": ["biolink:Disease"], "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.", "id": "MONDO:0011759", "name": "Hurler-scheie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hurler-Scheie syndrome", "MPS I H-S", "MPS1H/S", "MPSIH/S", "mucopolysaccharidosis type 1H/S", "mucopolysaccharidosis type IH/S", "mucopolysaccharidosis, mps-I-s"], "xref": ["DOID:0111389", "GARD:0012560", "ICD10CM:E76.02", "MEDGEN:88566", "MedDRA:10056916", "NANDO:1200096", "NANDO:2201170", "NCIT:C122782", "OMIM:607015", "Orphanet:93476", "SCTID:26745009", "UMLS:C0086431"]}
{"category": ["biolink:Disease"], "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.", "id": "MONDO:0011760", "name": "Scheie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPS I S", "MPS1S", "MPSIS", "Scheie syndrome", "mucopolysaccharidosis type 1S", "mucopolysaccharidosis type IS"], "xref": ["DOID:0060222", "GARD:0012561", "MEDGEN:6453", "NANDO:1200095", "NANDO:2201169", "NCIT:C61265", "OMIM:607016", "Orphanet:93474", "SCTID:73123008", "UMLS:C0026708"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.", "id": "MONDO:0011761", "name": "Autosomal dominant nonsyndromic hearing loss 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110551", "GARD:0018116", "MEDGEN:339643", "MESH:C564634", "OMIM:607017", "UMLS:C1846922"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.", "id": "MONDO:0011762", "name": "Autosomal recessive nonsyndromic hearing loss 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 22"], "xref": ["DOID:0110480", "GARD:0022601", "MEDGEN:339636", "MESH:C564633", "OMIM:607039", "UMLS:C1846896"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.", "id": "MONDO:0011764", "name": "Autosomal dominant parkinson disease 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["LRRK2 Parkinson disease", "Parkinson disease 8", "Parkinson disease caused by mutation in LRRK2", "autosomal dominant Parkinson disease 8", "autosomal dominant Parkinson disease type 8"], "xref": ["DOID:0060371", "GARD:0018476", "MEDGEN:339628", "OMIM:607060", "UMLS:C1846862"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.", "id": "MONDO:0011765", "name": "Multiple epiphyseal dysplasia type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BHMED", "EDM5", "MATN3 multiple epiphyseal dysplasia (disease)", "MED5", "Polyepiphyseal dysplasia type 5", "bilateral hereditary micro-epiphyseal dysplasia", "epiphyseal dysplasia, multiple, type 5", "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3"], "xref": ["DOID:0070299", "GARD:0009794", "MEDGEN:335542", "MESH:C535505", "OMIM:607078", "Orphanet:93311", "SCTID:715674008", "UMLS:C1846843", "icd11.foundation:537678813"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011766", "name": "46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46XY gonadal dysgenesis with minifascicular neuropathy"], "xref": ["DOID:0051055", "GARD:0017034", "MEDGEN:1727162", "MESH:C567773", "OMIM:607080", "Orphanet:168563", "UMLS:C5436061"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.", "id": "MONDO:0011767", "name": "Autosomal recessive nonsyndromic hearing loss 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 31"], "xref": ["DOID:0110490", "GARD:0022602", "MEDGEN:339621", "MESH:C564629", "OMIM:607084", "UMLS:C1846839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011768", "name": "Myasthenia gravis with thymus hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myasthenia gravis with thymus hyperplasia"], "xref": ["GARD:0024823", "MEDGEN:375982", "MESH:C564628", "OMIM:607085", "UMLS:C1846838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011770", "name": "Aortic aneurysm, familial thoracic 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["aortic aneurysm, familial thoracic 2"], "xref": ["GARD:0015409", "MEDGEN:335538", "MESH:C564627", "OMIM:607087", "UMLS:C1846837"]}
{"category": ["biolink:Disease"], "description": "A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.", "id": "MONDO:0011771", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive distal spinal muscular atrophy type 3", "dHMN3 and dHMN4", "dSMA3", "distal hereditary motor neuropathy type 3 and type 4", "distal spinal muscular atrophy type 3", "spinal muscular atrophy, chronic distal, autosomal recessive"], "xref": ["DOID:0111211", "GARD:0016956", "MEDGEN:337659", "MESH:C564626", "OMIM:607088", "Orphanet:139547", "UMLS:C1846823"]}
{"category": ["biolink:Disease"], "description": "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.", "id": "MONDO:0011772", "name": "B4galt1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B4GALT1-CDG", "B4GALT1-congenital disorder of glycosylation", "Beta-1,4-galactosyltransferase deficiency", "CDG syndrome type IId", "CDG-IId", "CDG2D", "carbohydrate deficient glycoprotein syndrome type IId", "congenital disorder of glycosylation type 2d", "congenital disorder of glycosylation type IId"], "xref": ["DOID:0070256", "GARD:0009841", "MEDGEN:419310", "MESH:C535753", "OMIM:607091", "Orphanet:79332", "SCTID:725587007", "UMLS:C2931009"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.", "id": "MONDO:0011773", "name": "Anauxetic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["anauxetic dysplasia", "anauxetic dysplasia type 1", "spondyloepimetaphyseal dysplasia, Menger type", "spondyloepimetaphyseal dysplasia, anauxetic type", "spondylometaepiphyseal dysplasia, Menger type"], "xref": ["DOID:0080942", "GARD:0009657", "MEDGEN:375972", "MESH:C538256", "OMIMPS:607095", "Orphanet:93347", "UMLS:C1846796", "icd11.foundation:1897630209"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.", "id": "MONDO:0011774", "name": "Autosomal recessive nonsyndromic hearing loss 30", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 30"], "xref": ["DOID:0110489", "GARD:0022603", "MEDGEN:335521", "MESH:C564624", "OMIM:607101", "UMLS:C1846784"]}
{"category": ["biolink:Disease"], "description": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.", "id": "MONDO:0011775", "name": "Nasopharyngeal carcinoma, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["TP53 nasopharyngeal carcinoma", "nasopharyngeal carcinoma 1", "nasopharyngeal carcinoma caused by mutation in TP53", "nasopharyngeal carcinoma, somatic", "nasopharyngeal carcinoma, susceptibility to, 1"], "xref": ["GARD:0027806", "MEDGEN:339597", "OMIM:607107", "UMLS:C1846758"]}
{"category": ["biolink:Disease"], "description": "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.", "id": "MONDO:0011776", "name": "Cinca syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CINCA syndrome", "CINCA/NOMID", "IOMID syndrome", "NOMID", "NOMID syndrome", "Neonatal-Onset Multisystem Inflammatory Disease", "Prieur-Griscelli syndrome", "chronic infantile neurological cutaneous and articular syndrome", "chronic neurologic cutaneous and articular syndrome", "cryopyrin-associated periodic syndrome 3", "infantile-onset multisystem inflammatory disease", "neonatal-onset multisystem inflammatory disease"], "xref": ["DOID:0090029", "GARD:0001356", "ICD9:759.89", "MEDGEN:98370", "NANDO:1200468", "NANDO:2201066", "NCIT:C116380", "NORD:1496", "OMIM:607115", "Orphanet:1451", "SCTID:239826001", "UMLS:C0409818"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.", "id": "MONDO:0011777", "name": "Alzheimer disease 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD8", "Alzheimer disease 8", "Alzheimer disease type 8", "Alzheimer's disease 8", "Alzheimer's disease type 8"], "xref": ["DOID:0110041", "GARD:0016512", "MEDGEN:375956", "MESH:C564622", "OMIM:607116", "UMLS:C1846735"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.", "id": "MONDO:0011778", "name": "Multiple epiphyseal dysplasia, al-gazali type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome"], "xref": ["GARD:0017014", "MEDGEN:335505", "MESH:C564621", "OMIM:607131", "Orphanet:166024", "SCTID:719688002", "UMLS:C1846722", "icd11.foundation:1359939784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011779", "name": "Laryngeal atresia, encephalocele, and limb deformities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laryngeal atresia, encephalocele, and limb deformities"], "xref": ["MEDGEN:335504", "MESH:C564620", "OMIM:607132", "UMLS:C1846721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011780", "name": "Specific language impairment 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SLI3", "specific language impairment 3", "specific language impairment QTL, 3"], "xref": ["MEDGEN:375953", "OMIM:607134", "UMLS:C1846719"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.", "id": "MONDO:0011781", "name": "Spinocerebellar ataxia type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPD2", "HDL4", "Huntington disease-like 4", "OPCA V", "OPCA with dementia and extrapyramidal signs", "SCA 17", "SCA17", "cerebelloparenchymal disorder II", "olivopontocerebellar atrophy 5", "olivopontocerebellar atrophy type 5", "spinocerebellar ataxia 17", "spinocerebellar ataxia type 17"], "xref": ["DOID:0050967", "GARD:0010469", "MEDGEN:337637", "MESH:C563505", "MESH:C564616", "MESH:C565866", "NCIT:C179861", "OMIM:164700", "OMIM:213100", "OMIM:607136", "Orphanet:98759", "SCTID:719249005", "UMLS:C1846707", "icd11.foundation:1173627424"]}
{"category": ["biolink:Disease"], "description": "Small breaks in the elastin-filled tissue of the retina.", "id": "MONDO:0011782", "name": "Angioid streaks", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioid streaks"], "xref": ["DOID:13401", "EFO:1000805", "MEDGEN:1541", "MESH:D000793", "MedDRA:10066191", "OMIM:607140", "UMLS:C0002982"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).", "id": "MONDO:0011783", "name": "Alg12-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG12-CDG", "ALG12-congenital disorder of glycosylation", "CDG syndrome type Ig", "CDG-Ig", "CDG1G", "CDGIg", "carbohydrate deficient glycoprotein syndrome type Ig", "congenital disorder of glycosylation type 1g", "congenital disorder of glycosylation type Ig", "mannosyltransferase 8 deficiency"], "xref": ["DOID:0080559", "GARD:0009833", "ICD9:271.8", "MEDGEN:443954", "MESH:C535745", "NCIT:C126873", "OMIM:607143", "Orphanet:79324", "SCTID:711155008", "UMLS:C2931001"]}
{"category": ["biolink:Disease"], "description": "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.", "id": "MONDO:0011784", "name": "Moyamoya disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Moyamoya disease 2", "Moyamoya disease caused by mutation in RNF213", "Moyamoya disease type 2", "RNF213 Moyamoya disease", "moyamoya disease 2, susceptibility to"], "xref": ["GARD:0015410", "MEDGEN:339584", "MESH:C536992", "NCIT:C183312", "OMIM:607151", "UMLS:C1846689"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.", "id": "MONDO:0011785", "name": "Hereditary spastic paraplegia 19", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG19", "autosomal dominant spastic paraplegia type 19", "hereditary spastic paraplegia type 19"], "xref": ["DOID:0110772", "GARD:0009588", "MEDGEN:335494", "MESH:C536856", "OMIM:607152", "Orphanet:100999", "SCTID:763375003", "UMLS:C1846685"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.", "id": "MONDO:0011786", "name": "Allergic rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic form of rhinitis", "allergic rhinitis"], "xref": ["DOID:4481", "EFO:0005854", "HP:0003193", "ICD9:477", "ICD9:477.8", "ICD9:477.9", "MEDGEN:382012", "NCIT:C79532", "SCTID:61582004", "UMLS:C2607914", "icd11.foundation:1711769234"]}
{"category": ["biolink:Disease"], "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.", "id": "MONDO:0011787", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FKRP autosomal recessive limb-girdle muscular dystrophy", "LGMD-FKRP related", "LGMD2I", "MDDGC5", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "limb-girdle muscular dystrophy due to FKRP deficiency", "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5"], "xref": ["DOID:0110299", "GARD:0012533", "MEDGEN:339580", "MESH:C564612", "NCIT:C126739", "OMIM:607155", "Orphanet:34515", "SCTID:718180000", "UMLS:C1846672"]}
{"category": ["biolink:Disease"], "description": "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.", "id": "MONDO:0011788", "name": "Cloverleaf skull-multiple congenital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016811", "MEDGEN:375942", "MESH:C564611", "OMIM:607161", "Orphanet:93267", "SCTID:717771007", "UMLS:C1846671"]}
{"category": ["biolink:Disease"], "description": "A meningioma that is transmitted from the parents to an offspring.", "id": "MONDO:0011789", "name": "Familial meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["familial meningioma", "hereditary meningioma", "hereditary meningioma (disease)", "meningioma, NF2-related, somatic", "meningioma, SIS-related"], "xref": ["DOID:4586", "GARD:0018385", "MEDGEN:764829", "MESH:C537443", "NCIT:C5301", "OMIM:607174", "UMLS:C3551915"]}
{"category": ["biolink:Disease"], "description": "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.", "id": "MONDO:0011790", "name": "Amish lethal microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Amish lethal microcephaly"], "xref": ["GARD:0008606", "MEDGEN:375938", "MESH:C538247", "OMIM:607196", "Orphanet:99742", "SCTID:702437000", "UMLS:C1846648"]}
{"category": ["biolink:Disease"], "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.", "id": "MONDO:0011792", "name": "Thyroid dyshormonogenesis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DUOX2 familial thyroid dyshormonogenesis", "familial thyroid dyshormonogenesis caused by mutation in DUOX2", "thyroid dyshormonogenesis 6", "thyroid dyshormonogenesis type 6"], "xref": ["DOID:0112189", "GARD:0018193", "MEDGEN:375935", "MESH:C564608", "OMIM:607200", "Orphanet:226316", "UMLS:C1846632"]}
{"category": ["biolink:Disease"], "description": "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.", "id": "MONDO:0011795", "name": "Anonychia-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Teebi-Kaurah syndrome"], "xref": ["GARD:0005123", "MEDGEN:339565", "OMIM:607214", "Orphanet:1094", "SCTID:720494009", "UMLS:C1846617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011796", "name": "Epilepsy, partial, with pericentral spikes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PEPS", "epilepsy, partial, with pericentral spikes"], "xref": ["MEDGEN:337614", "MESH:C564605", "OMIM:607221", "UMLS:C1846609"]}
{"category": ["biolink:Disease"], "description": "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.", "id": "MONDO:0011797", "name": "Infantile-onset ascending hereditary spastic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IAHSP"], "xref": ["GARD:0004914", "ICD9:343.8", "MEDGEN:419413", "MESH:C537217", "OMIM:607225", "Orphanet:293168", "SCTID:703543005", "UMLS:C2931441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011798", "name": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration"], "xref": ["MEDGEN:337612", "MESH:C564603", "OMIM:607236", "Orphanet:157855", "UMLS:C1846582"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.", "id": "MONDO:0011799", "name": "Autosomal recessive nonsyndromic hearing loss 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110492", "GARD:0022604", "MEDGEN:335464", "MESH:C564602", "OMIM:607239", "UMLS:C1846576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011800", "name": "Glioma susceptibility 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM4", "glioma susceptibility 4"], "xref": ["GARD:0027807", "MEDGEN:416425", "OMIM:607248", "UMLS:C2750944"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.", "id": "MONDO:0011801", "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAN1", "Spinocerebellar Ataxia with Axonal Neuropathy", "spinocerebellar ataxia type 1 with axonal neuropathy", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"], "xref": ["DOID:0090115", "GARD:0010000", "MEDGEN:1683470", "MESH:C537313", "NORD:1730", "OMIM:607250", "Orphanet:94124", "SCTID:765091006", "UMLS:C4759870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011802", "name": "Hypercalciuria, absorptive, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypercalciuria, absorptive", "hypercalciuria, absorptive, 1", "hypercalciuria, absorptive, type 1"], "xref": ["GARD:0018584", "MEDGEN:375924", "MESH:C564600", "OMIM:607258", "UMLS:C1846573"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.", "id": "MONDO:0011803", "name": "Hereditary spastic paraplegia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG7", "SPG7 hereditary spastic paraplegia", "hereditary spastic paraplegia 7", "hereditary spastic paraplegia caused by mutation in SPG7", "hereditary spastic paraplegia type 7", "spastic paraplegia type 7"], "xref": ["DOID:0110816", "GARD:0004927", "MEDGEN:339552", "MESH:C564599", "OMIM:607259", "Orphanet:99013", "SCTID:715776003", "UMLS:C1846564"]}
{"category": ["biolink:Disease"], "description": "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.", "id": "MONDO:0011804", "name": "Autoimmune lymphoproliferative syndrome type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALPS2B", "CASP8 autoimmune lymphoproliferative syndrome", "CEDS", "autoimmune lymphoproliferative syndrome caused by mutation in CASP8", "autoimmune lymphoproliferative syndrome, type IIB", "caspase 8 deficiency", "caspase 8 deficiency syndrome"], "xref": ["DOID:0110116", "GARD:0009796", "MEDGEN:339548", "NANDO:2200740", "OMIM:607271", "Orphanet:275517", "SCTID:722290008", "UMLS:C1846545"]}
{"category": ["biolink:Disease"], "description": "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.", "id": "MONDO:0011806", "name": "Osteofibrous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kempson-Campanacci lesion", "OFD", "OSFD", "cortical fibrous dysplasia", "ossifying fibroma of long bones", "osteofibrous dysplasia", "osteofibrous dysplasia of bone", "tibia, bowing of, with pseudarthrosis and pectus excavatum"], "xref": ["GARD:0010887", "MEDGEN:895748", "MESH:C563276", "MESH:C563787", "NCIT:C53970", "OMIM:607278", "OMIM:609143", "Orphanet:488265", "UMLS:C4085248"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in mutation in the region 2p12.", "id": "MONDO:0011808", "name": "Cataract 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT27", "cataract 27", "cataract type 27"], "xref": ["DOID:0110233", "GARD:0018235", "MEDGEN:335448", "MESH:C564596", "OMIM:607304", "UMLS:C1846520"]}
{"category": ["biolink:Disease"], "description": "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.", "id": "MONDO:0011810", "name": "Horizontal gaze palsy with progressive scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["HGPPS", "progressive external ophthalmoplegia and scoliosis"], "xref": ["GARD:0012682", "ICD9:737.43", "MEDGEN:339538", "MESH:C564593", "OMIMPS:607313", "Orphanet:2744", "SCTID:702381007", "UMLS:C1846496", "icd11.foundation:226403142"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.", "id": "MONDO:0011811", "name": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR4", "SCASI"], "xref": ["DOID:0111611", "GARD:0004952", "MEDGEN:335442", "MESH:C537310", "OMIM:607317", "Orphanet:95434", "UMLS:C1846492"]}
{"category": ["biolink:Disease"], "description": "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4/i related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.", "id": "MONDO:0011812", "name": "Duane-radial ray syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DR syndrome", "DRRS", "Duane anomaly with radial ray abnormalities and deafness", "Duane-radial ray syndrome", "Okihiro syndrome", "acro-renal-ocular syndrome"], "xref": ["DOID:0060747", "GARD:0009182", "ICD9:759.89", "MEDGEN:301647", "OMIM:607323", "Orphanet:93293", "Orphanet:959", "SCTID:699867001", "SCTID:720415006", "UMLS:C1623209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011813", "name": "Polydactyly, postaxial, type a3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A3"], "xref": ["GARD:0018174", "MEDGEN:337585", "MESH:C564590", "OMIM:607324", "UMLS:C1846452"]}
{"category": ["biolink:Disease"], "description": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.", "id": "MONDO:0011814", "name": "Smith-mccort dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYM Smith-McCort dysplasia", "Smith-McCort dysplasia 1", "Smith-McCort dysplasia caused by mutation in DYM", "Smith-McCort dysplasia type 1"], "xref": ["DOID:0081270", "GARD:0015411", "MEDGEN:854757", "OMIM:607326", "UMLS:C3888088"]}
{"category": ["biolink:Disease"], "description": "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.", "id": "MONDO:0011816", "name": "Lathosterolosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lathosterolosis", "sterol C5-desaturase deficiency"], "xref": ["GARD:0009711", "MEDGEN:375885", "MESH:C537880", "OMIM:607330", "Orphanet:46059", "SCTID:719257008", "UMLS:C1846421", "icd11.foundation:1816858203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011818", "name": "Isolated focal cortical dysplasia type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FCD type II", "cortical dysplasia, Taylor type", "focal cortical dysplasia, type II, somatic", "isolated focal cortical dysplasia type 2"], "xref": ["GARD:0010190", "MEDGEN:339510", "MESH:C537067", "OMIM:607341", "Orphanet:268994", "UMLS:C1846385"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.", "id": "MONDO:0011819", "name": "Spinocerebellar ataxia type 19/22", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA19/22", "spinocerebellar ataxia type 19"], "xref": ["DOID:0050970", "GARD:0012365", "MEDGEN:339504", "MESH:C537198", "MESH:C542540", "NCIT:C163756", "OMIM:607346", "Orphanet:98772", "SCTID:719251009", "UMLS:C1846367"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.", "id": "MONDO:0011821", "name": "Meckel syndrome, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MKS3", "Meckel syndrome caused by mutation in TMEM67", "Meckel syndrome, type 3", "Meckel-Gruber syndrome, type 3", "TMEM67 Meckel syndrome"], "xref": ["DOID:0070117", "GARD:0008744", "MEDGEN:335402", "MESH:C536132", "OMIM:607361", "UMLS:C1846357"]}
{"category": ["biolink:Disease"], "description": "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.", "id": "MONDO:0011822", "name": "Bartter disease type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BARTS3", "Bartter disease type 3", "Bartter syndrome type 3", "Bartter syndrome type III", "adult Bartter syndrome"], "xref": ["DOID:0110144", "GARD:0009659", "MEDGEN:335399", "OMIM:607364", "Orphanet:93605", "SCTID:700111000", "UMLS:C1846343"]}
{"category": ["biolink:Disease"], "description": "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.", "id": "MONDO:0011823", "name": "Developmental malformations-deafness-dystonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009818", "MEDGEN:1848671", "MESH:C537704", "OMIM:607371", "Orphanet:79107", "UMLS:C5848323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011825", "name": "Streptococcus, group a, severity of infection by", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["streptococcus, group A, severity of infection by"], "xref": ["MEDGEN:375858", "OMIM:607395", "UMLS:C1846298"]}
{"category": ["biolink:Disease"], "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.", "id": "MONDO:0011826", "name": "Glucocorticoid deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRAP familial glucocorticoid deficiency", "familial glucocorticoid deficiency caused by mutation in MRAP", "glucocorticoid deficiency 2", "glucocorticoid deficiency type 2"], "xref": ["DOID:0061242", "GARD:0015412", "MEDGEN:891117", "MESH:C564577", "NANDO:1200409", "NCIT:C123728", "OMIM:607398", "UMLS:C4049714"]}
{"category": ["biolink:Disease"], "description": "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.", "id": "MONDO:0011827", "name": "Patent ductus arteriosus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["PDA", "familial patent arterial duct", "patency of the ductus arteriosus", "patent ductus arteriosus", "patent ductus arteriosus familial (type)", "patent ductus botalli", "persistent patency of the arterial duct"], "xref": ["DOID:13832", "GARD:0024824", "ICD10CM:Q25.0", "ICD9:747.0", "MEDGEN:4415", "MESH:D004374", "NANDO:2100084", "NANDO:2200264", "NCIT:C84492", "OMIMPS:607411", "Orphanet:466729", "Orphanet:706", "SCTID:83330001", "UMLS:C0013274", "icd11.foundation:1262462321"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.", "id": "MONDO:0011828", "name": "Intellectual disability, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRBN autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN", "intellectual disability, autosomal recessive 2", "intellectual disability, autosomal recessive type 2", "mental retardation, autosomal recessive type 2"], "xref": ["DOID:0081178", "GARD:0022538", "MEDGEN:334541", "MESH:C564404", "OMIM:607417", "UMLS:C1843942"]}
{"category": ["biolink:Disease"], "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.", "id": "MONDO:0011829", "name": "Coenzyme q10 deficiency, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COQ2 coenzyme Q10 deficiency", "coenzyme Q10 deficiency caused by mutation in COQ2", "coenzyme Q10 deficiency, primary, 1", "coenzyme Q10 deficiency, primary, type 1"], "xref": ["DOID:0070238", "GARD:0018378", "MEDGEN:764868", "OMIM:607426", "UMLS:C3551954"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.", "id": "MONDO:0011830", "name": "Lissencephaly due to lis1 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAFAH1B1-related lissencephaly"], "xref": ["DOID:0112237", "GARD:0016838", "MEDGEN:1657090", "OMIM:607432", "Orphanet:95232", "UMLS:C4749301"]}
{"category": ["biolink:Disease"], "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.", "id": "MONDO:0011831", "name": "Arrhythmogenic right ventricular dysplasia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARVC8", "ARVD8", "DSP arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular cardiomyopathy 8", "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP", "arrhythmogenic right ventricular dysplasia 8", "arrhythmogenic right ventricular dysplasia type 8", "arrhythmogenic right ventricular dysplasia, familial, type 8"], "xref": ["DOID:0110076", "GARD:0024825", "MEDGEN:336069", "MESH:C564400", "OMIM:607450", "UMLS:C1843896"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.", "id": "MONDO:0011832", "name": "Autosomal dominant nonsyndromic hearing loss 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110569", "GARD:0018118", "MEDGEN:334525", "MESH:C564399", "OMIM:607453", "UMLS:C1843895"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.", "id": "MONDO:0011833", "name": "Spinocerebellar ataxia type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA21", "spinocerebellar ataxia type 21"], "xref": ["DOID:0050972", "GARD:0009999", "MEDGEN:375311", "MESH:C537200", "OMIM:607454", "Orphanet:98773", "SCTID:718774001", "UMLS:C1843891", "icd11.foundation:1426889593"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.", "id": "MONDO:0011834", "name": "Spinocerebellar ataxia type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA18"], "xref": ["DOID:0050969", "GARD:0009976", "MEDGEN:336066", "MESH:C537197", "OMIM:607458", "Orphanet:98771", "SCTID:719250005", "UMLS:C1843884", "icd11.foundation:1564628854"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.", "id": "MONDO:0011835", "name": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPM5", "PME type 5", "PRICKLE2 progressive myoclonic epilepsy", "SANDO", "epilepsy, progressive myoclonic, type 5", "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "progressive myoclonus epilepsy type 5", "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"], "xref": ["DOID:0111276", "GARD:0009998", "MEDGEN:375302", "OMIM:607459", "OMIM:613832", "Orphanet:402082", "Orphanet:70595", "UMLS:C1843851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011836", "name": "Thyroid hurthle cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Hurthle cell carcinoma of the thyroid", "Hurthle cell carcinoma of the thyroid gland", "Hurthle cell carcinoma of thyroid", "Hurthle cell carcinoma of thyroid gland", "Hurthle cell thyroid gland carcinoma", "oncocytic carcinoma of the thyroid", "oncocytic carcinoma of thyroid", "thyroid Hurthle cell carcinoma", "thyroid carcinoma, Hurthle cell", "thyroid gland Hurthle cell carcinoma", "thyroid gland oncocytic follicular carcinoma", "thyroid oncocytic carcinoma"], "xref": ["DOID:8161", "GARD:0009428", "MEDGEN:196672", "MESH:C536913", "NCIT:C4946", "OMIM:607464", "ONCOTREE:THHC", "SCTID:423158009", "UMLS:C0749424"]}
{"category": ["biolink:Disease"], "description": "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.", "id": "MONDO:0011837", "name": "Vitamin k-dependent clotting factors, combined deficiency of, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency", "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1", "vitamin K-dependent clotting factors, combined deficiency of, 2", "vitamin K-dependent clotting factors, combined deficiency of, type 2"], "xref": ["DOID:0112174", "GARD:0018196", "MEDGEN:334505", "MESH:C564393", "OMIM:607473", "UMLS:C1843832"]}
{"category": ["biolink:Disease"], "description": "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.", "id": "MONDO:0011838", "name": "Bothnia retinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bothnia retinal dystrophy", "VC$sterbotten dystrophy", "Vasterbotten dystrophy", "Västerbotten dystrophy"], "xref": ["DOID:0050683", "GARD:0016734", "MEDGEN:334499", "MESH:C564392", "OMIM:607475", "Orphanet:85128", "SCTID:715647007", "UMLS:C1843816", "icd11.foundation:2110390212"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.", "id": "MONDO:0011839", "name": "Newfoundland cone-rod dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NFRCD", "RLBP1 cone-rod dystrophy", "cone-rod dystrophy caused by mutation in RLBP1"], "xref": ["DOID:0111015", "GARD:0024826", "MEDGEN:334840", "MESH:C564391", "OMIM:607476", "UMLS:C1843815"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.", "id": "MONDO:0011840", "name": "Dilated cardiomyopathy 1m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1M", "CSRP3 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1M", "dilated cardiomyopathy type 1M", "familial isolated dilated cardiomyopathy caused by mutation in CSRP3"], "xref": ["DOID:0110449", "GARD:0015413", "MEDGEN:334498", "MESH:C564390", "OMIM:607482", "UMLS:C1843808"]}
{"category": ["biolink:Disease"], "description": "Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.", "id": "MONDO:0011841", "name": "Biotin-responsive basal ganglia disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBGD", "BTBGD", "THMD2", "biotin-responsive basal ganglia disease", "biotin-thiamine-responsive basal ganglia disease", "encephalopathy, thiamine-responsive", "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)", "thiamine-responsive encephalopathy"], "xref": ["DOID:0050659", "GARD:0010237", "ICD9:333.99", "MEDGEN:375289", "MESH:C537658", "OMIM:607483", "Orphanet:199348", "Orphanet:65284", "SCTID:703522009", "SCTID:723557004", "UMLS:C1843807", "icd11.foundation:1776831202"]}
{"category": ["biolink:Disease"], "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.", "id": "MONDO:0011842", "name": "Grn-related frontotemporal lobar degeneration with tdp43 inclusions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060672", "GARD:0010004", "MEDGEN:375285", "OMIM:607485", "UMLS:C1843792"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.", "id": "MONDO:0011843", "name": "Hypertrophic cardiomyopathy 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH25", "TCAP hypertrophic cardiomyopathy", "Tcap hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 25", "cardiomyopathy, hypertrophic, 25", "hypertrophic cardiomyopathy caused by mutation in TCAP", "hypertrophic cardiomyopathy type 25"], "xref": ["DOID:0110328", "GARD:0024827", "MEDGEN:895360", "MESH:C564388", "OMIM:607487", "UMLS:C4225408"]}
{"category": ["biolink:Disease"], "description": "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.", "id": "MONDO:0011844", "name": "Myoclonic dystonia 15", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["dystonia-15, myoclonic", "myoclonic dystonia type 15"], "xref": ["DOID:0090035", "GARD:0009629", "MEDGEN:334492", "MESH:C538002", "NANDO:1200528", "OMIM:607488", "Orphanet:210566", "UMLS:C1843786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011848", "name": "Headache associated with sexual activity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["headache associated with sexual activity"], "xref": ["ICD10CM:G44.82", "MEDGEN:95989", "OMIM:607504", "UMLS:C0393754"]}
{"category": ["biolink:Disease"], "description": "Joint inflammation associated with psoriasis.", "id": "MONDO:0011849", "name": "Psoriatic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:predisposition"], "synonym": ["arthritis psoriatica", "arthropathic psoriasis"], "xref": ["DOID:9008", "EFO:0003778", "ICD10CM:L40.5", "ICD9:696.0", "MEDGEN:2077", "MESH:D015535", "NANDO:2201059", "NCIT:C61277", "Orphanet:40050", "SCTID:156370009", "UMLS:C0003872", "icd11.foundation:868183264"]}
{"category": ["biolink:Disease"], "description": "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.", "id": "MONDO:0011852", "name": "Nonsyndromic congenital nail disorder 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COL7A1 inherited isolated nail anomaly", "inherited isolated nail anomaly caused by mutation in COL7A1", "nail disorder, nonsyndromic congenital, type 8", "nonsyndromic congenital nail disorder type 8"], "xref": ["DOID:0080086", "GARD:0024828", "MEDGEN:375277", "MESH:C564384", "OMIM:607523", "UMLS:C1843761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011853", "name": "Camptosynpolydactyly, complex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["camptosynpolydactyly, complex"], "xref": ["MEDGEN:375276", "MESH:C564383", "OMIM:607539", "UMLS:C1843758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011854", "name": "Secretory diarrhea, myopathy, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Levy-Yeboa syndrome", "secretory diarrhea, myopathy, and deafness"], "xref": ["MEDGEN:334488", "MESH:C564382", "OMIM:607540", "UMLS:C1843757"]}
{"category": ["biolink:Disease"], "description": "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.", "id": "MONDO:0011855", "name": "Granular corneal dystrophy type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Avellino corneal dystrophy", "CGD2", "GCD2", "GCDII", "avellino corneal dystrophy", "combined granular-lattice corneal dystrophy", "granular corneal dystrophy type 2", "granular-lattice corneal dystrophy"], "xref": ["DOID:0060444", "GARD:0009278", "ICD9:371.56", "MEDGEN:220900", "MESH:C535474", "OMIM:607541", "Orphanet:98963", "SCTID:397568004", "UMLS:C1275685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011856", "name": "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0112305", "GARD:0008719", "MEDGEN:375263", "MESH:C535791", "OMIM:607543", "Orphanet:168552", "UMLS:C1843706"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.", "id": "MONDO:0011857", "name": "Atrial fibrillation, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNQ1 familial atrial fibrillation", "atrial fibrillation, familial, 3", "atrial fibrillation, familial, type 3", "familial atrial fibrillation caused by mutation in KCNQ1"], "xref": ["GARD:0015414", "MEDGEN:373232", "MESH:C563817", "OMIM:607554", "UMLS:C1837014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011858", "name": "Spastic paraplegia, ataxia, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic paraplegia, ataxia, and intellectual disability", "spastic paraplegia, ataxia, and mental retardation"], "xref": ["MEDGEN:336010", "MESH:C564378", "OMIM:607565", "UMLS:C1843661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011861", "name": "Breath-holding spells", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breath-holding Spells"], "xref": ["MEDGEN:105400", "OMIM:607578", "UMLS:C0476287"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.", "id": "MONDO:0011862", "name": "Hereditary spastic paraplegia 24", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG24", "autosomal recessive spastic paraplegia type 24", "hereditary spastic paraplegia type 24"], "xref": ["DOID:0110775", "GARD:0009296", "MEDGEN:334784", "MESH:C564375", "OMIM:607584", "Orphanet:101004", "UMLS:C1843569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011863", "name": "Prostate cancer aggressiveness quantitative trait locus on chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["prostate cancer aggressiveness QTL", "prostate cancer aggressiveness quantitative trait locus on chromosome 19", "prostate cancer aggressiveness quantitative trait locus on chromosome type 19"], "xref": ["MEDGEN:334432", "OMIM:607592", "UMLS:C1843533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011864", "name": "Immunodeficiency, common variable, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 1", "immunodeficiency, common variable, type 1"], "xref": ["DOID:0081144", "GARD:0024829", "MEDGEN:460728", "OMIM:607594", "Orphanet:695183", "UMLS:C3149378"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.", "id": "MONDO:0011866", "name": "Pontocerebellar hypoplasia type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VRK1 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1"], "xref": ["DOID:0060265", "GARD:0015416", "MEDGEN:335969", "OMIM:607596", "UMLS:C1843504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011867", "name": "Microphthalmia with cyst, bilateral facial clefts, and limb anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microphthalmia with cyst, bilateral facial clefts, and limb anomalies"], "xref": ["MEDGEN:375210", "MESH:C564370", "OMIM:607597", "UMLS:C1843492"]}
{"category": ["biolink:Disease"], "description": "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.", "id": "MONDO:0011868", "name": "Lethal congenital contracture syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERBB3 lethal congenital contracture syndrome", "LCCS2", "lethal congenital contractural syndrome 2", "lethal congenital contracture syndrome 2", "lethal congenital contracture syndrome caused by mutation in ERBB3", "lethal congenital contracture syndrome type 2", "multiple contracture syndrome, Israeli-Bedouin type"], "xref": ["DOID:0060560", "GARD:0009177", "MEDGEN:334413", "MESH:C564369", "OMIM:607598", "Orphanet:137776", "SCTID:715419004", "UMLS:C1843478"]}
{"category": ["biolink:Disease"], "description": "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.", "id": "MONDO:0011869", "name": "Epidermolysis bullosa simplex superficialis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBSS", "epidermolysis bullosa simplex superficialis"], "xref": ["GARD:0024830", "MEDGEN:334412", "MESH:C564368", "OMIM:607600", "Orphanet:89839", "UMLS:C1843477", "icd11.foundation:1738578678"]}
{"category": ["biolink:Disease"], "description": "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.", "id": "MONDO:0011870", "name": "Annular epidermolytic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AEI", "ichthyosis, annular epidermolytic"], "xref": ["GARD:0017304", "MEDGEN:334410", "MESH:C564367", "OMIMPS:607602", "Orphanet:281139", "SCTID:718631006", "UMLS:C1843463", "icd11.foundation:280058464"]}
{"category": ["biolink:Disease"], "description": "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea", "id": "MONDO:0011871", "name": "Niemann-pick disease type b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["type B Niemann-Pick disease"], "xref": ["DOID:0070112", "GARD:0010729", "ICD10CM:E75.241", "MEDGEN:78651", "MESH:D052537", "NANDO:1200062", "NANDO:2201207", "NCIT:C126866", "OMIM:607616", "Orphanet:77293", "SCTID:39390005", "UMLS:C0268243", "icd11.foundation:327269975"]}
{"category": ["biolink:Disease"], "description": "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.", "id": "MONDO:0011872", "name": "Griscelli syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GS2", "Griscelli syndrome type 2", "Griscelli syndrome with hemophagocytic syndrome", "Griscelli-PruniC)ras syndrome type 2", "Griscelli-Pruniéras syndrome type 2", "Griscelli-Pruni��ras syndrome type 2", "PAID syndrome", "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome", "partial albinism and immunodeficiency syndrome"], "xref": ["DOID:0060833", "GARD:0004483", "MEDGEN:357030", "MESH:C537302", "NANDO:2200732", "NCIT:C111814", "OMIM:607624", "Orphanet:79477", "UMLS:C1868679", "icd11.foundation:1836541365"]}
{"category": ["biolink:Disease"], "description": "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0011873", "name": "Niemann-pick disease, type c2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["NPC2", "Niemann-Pick disease, type C2", "type C2 Niemann-Pick disease"], "xref": ["DOID:0070114", "GARD:0003992", "MEDGEN:335942", "MESH:C536119", "NCIT:C126865", "OMIM:607625", "UMLS:C1843366"]}
{"category": ["biolink:Disease"], "description": "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.", "id": "MONDO:0011874", "name": "Neonatal ichthyosis-sclerosing cholangitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IHSC", "NISCH syndrome", "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome", "neonatal ichthyosis-sclerosing cholangitis syndrome"], "xref": ["GARD:0010583", "MEDGEN:334382", "MESH:C564365", "OMIM:607626", "Orphanet:59303", "SCTID:724278007", "UMLS:C1843355"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.", "id": "MONDO:0011877", "name": "Autosomal dominant osteopetrosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LRP5 osteopetrosis (disease)", "OPTA1", "autosomal dominant osteopetrosis type 1", "osteopetrosis (disease) caused by mutation in LRP5", "osteopetrosis, autosomal dominant type 1"], "xref": ["DOID:0110937", "GARD:0004151", "MEDGEN:335932", "MESH:C536056", "OMIM:607634", "Orphanet:2783", "UMLS:C1843330"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.", "id": "MONDO:0011879", "name": "Neuronopathy, distal hereditary motor, type 7b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DCTN1 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in DCTN1"], "xref": ["DOID:0111202", "GARD:0018270", "MEDGEN:375157", "MESH:C564362", "OMIM:607641", "UMLS:C1843315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011880", "name": "Candidiasis, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CANDF3", "candidiasis, familial, 3"], "xref": ["GARD:0015418", "MEDGEN:335927", "MESH:C564361", "OMIM:607644", "UMLS:C1843306"]}
{"category": ["biolink:Disease"], "description": "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.", "id": "MONDO:0011881", "name": "Keratosis palmoplantaris striata 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT1 striate palmoplantar keratoderma", "keratosis palmoplantaris striata type 3", "striate palmoplantar keratoderma caused by mutation in KRT1"], "xref": ["DOID:0081110", "GARD:0009173", "MEDGEN:418996", "MESH:C536163", "OMIM:607654", "UMLS:C2931123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011882", "name": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome"], "xref": ["GARD:0005231", "MEDGEN:1659950", "MESH:C564359", "OMIM:607655", "Orphanet:293165", "UMLS:C4755263"]}
{"category": ["biolink:Disease"], "description": "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.", "id": "MONDO:0011883", "name": "Curly hair - acral keratoderma - caries syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHACS", "Chac syndrome", "Curly hair - acral keratoderma - caries syndrome"], "xref": ["GARD:0010163", "MEDGEN:335923", "MESH:C536220", "OMIM:607656", "Orphanet:307766", "UMLS:C1843291"]}
{"category": ["biolink:Disease"], "description": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.", "id": "MONDO:0011884", "name": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HOPP syndrome", "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome", "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome", "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome"], "xref": ["GARD:0017384", "MEDGEN:375146", "MESH:C564357", "OMIM:607658", "Orphanet:307936", "SCTID:763658004", "UMLS:C1843285"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.", "id": "MONDO:0011885", "name": "Tubulointerstitial nephritis and uveitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dobrin syndrome", "TINU syndrome", "Tubulointerstitial nephritis and uveitis", "acute tubulointerstitial nephritis and uveitis syndrome"], "xref": ["GARD:0009252", "MEDGEN:334715", "MESH:C536922", "MedDRA:10069034", "MedDRA:10069039", "NCIT:C123021", "OMIM:607665", "Orphanet:91500", "UMLS:C1843273"]}
{"category": ["biolink:Disease"], "description": "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.", "id": "MONDO:0011886", "name": "Torsion dystonia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DYT13", "primary dystonia with mixed phenotype", "primary torsion dystonia with predominant craniocervical or upper limb onset", "torsion dystonia type 13"], "xref": ["DOID:0090037", "GARD:0010537", "MEDGEN:335918", "MESH:C564354", "NANDO:1200527", "OMIM:607671", "Orphanet:98807", "SCTID:719278006", "UMLS:C1843264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011887", "name": "Cataract, congenital, with mental impairment and dentate gyrus atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cataract, congenital, with mental impairment and dentate gyrus atrophy"], "xref": ["MEDGEN:334365", "MESH:C564353", "OMIM:607674", "UMLS:C1843257"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.", "id": "MONDO:0011888", "name": "Immunodeficiency 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IRAK4 deficiency", "immunodeficiency 67", "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency", "invasive pneumococcal disease, recurrent isolated, 1", "invasive pneumococcal disease, recurrent isolated, type 1"], "xref": ["GARD:0010311", "MEDGEN:375137", "MESH:C563662", "MESH:C564352", "NANDO:1200361", "NANDO:2200762", "OMIM:607676", "Orphanet:70592", "UMLS:C1843256"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.", "id": "MONDO:0011889", "name": "Charcot-marie-tooth disease type 2i", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2I", "Charcot-Marie-Tooth disease, type 2I"], "xref": ["DOID:0110158", "GARD:0009197", "MEDGEN:854756", "OMIM:607677", "Orphanet:99942", "SCTID:717013009", "UMLS:C3888087", "icd11.foundation:1858507973"]}
{"category": ["biolink:Disease"], "description": "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.", "id": "MONDO:0011890", "name": "Charcot-marie-tooth disease type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1D", "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2", "Charcot-Marie-Tooth disease, type 1D", "EGR2 Charcot-Marie-Tooth disease type 1", "HMSN1D", "hereditary motor and sensory neuropathy 1D"], "xref": ["DOID:0110150", "GARD:0009189", "MEDGEN:334709", "MESH:C537985", "OMIM:607678", "Orphanet:101084", "SCTID:719979008", "UMLS:C1843247", "icd11.foundation:2062905967"]}
{"category": ["biolink:Disease"], "description": "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.", "id": "MONDO:0011891", "name": "Febrile seizures, familial, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:predisposition", "mondo:rare"], "synonym": ["GABRG2 childhood absence epilepsy", "GABRG2 generalised epilepsy with febrile seizures plus", "GABRG2 generalized epilepsy with febrile seizures plus", "childhood absence epilepsy caused by mutation in GABRG2", "generalised epilepsy with febrile seizures plus caused by mutation in GABRG2", "generalised epilepsy with febrile seizures plus, type 3", "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2", "generalized epilepsy with febrile seizures plus, type 3"], "xref": ["DOID:0111298", "GARD:0018058", "MEDGEN:370755", "MESH:C565811", "OMIM:607681", "OMIM:611277", "UMLS:C1969810"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.", "id": "MONDO:0011894", "name": "Charcot-marie-tooth disease type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2E", "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL", "Charcot-Marie-Tooth disease, type 2E", "NEFL Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2E"], "xref": ["DOID:0110165", "GARD:0009193", "MEDGEN:375127", "MESH:C537994", "NCIT:C134953", "OMIM:607684", "Orphanet:99939", "SCTID:717012004", "UMLS:C1843225", "icd11.foundation:1476045360"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011895", "name": "Idiopathic hypereosinophilic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation"], "xref": ["GARD:0016625", "ICD10CM:D72.110", "MEDGEN:61525", "OMIM:607685", "Orphanet:3260", "SCTID:423294001", "UMLS:C0206141", "icd11.foundation:703101846"]}
{"category": ["biolink:Disease"], "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.", "id": "MONDO:0011897", "name": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["4H syndrome", "HLD7", "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism", "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism", "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism", "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition"], "xref": ["DOID:0060794", "GARD:0016948", "NANDO:1200585", "NANDO:2201297", "OMIM:607694", "SCTID:721846006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011898", "name": "Charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive"], "xref": ["DOID:0051028", "GARD:0024831", "MEDGEN:375113", "OMIM:607706", "UMLS:C1843183"]}
{"category": ["biolink:Disease"], "description": "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.", "id": "MONDO:0011899", "name": "Noonan syndrome-like disorder with loose anagen hair", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["NS/LAH", "Noonan syndrome-like disorder with loose anagen hair", "Tosti syndrome"], "xref": ["DOID:0080691", "GARD:0010719", "MEDGEN:334697", "MESH:C564342", "NCIT:C178129", "OMIMPS:607721", "Orphanet:2701", "SCTID:723444009", "UMLS:C1843181"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011900", "name": "Porokeratosis 4, disseminated superficial actinic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POROK4", "porokeratosis 4, disseminated superficial actinic", "porokeratosis 4, disseminated superficial actinic type"], "xref": ["GARD:0009504", "MEDGEN:335900", "OMIM:607728", "UMLS:C1843180"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.", "id": "MONDO:0011901", "name": "Charcot-marie-tooth disease axonal type 2h", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT2C", "CMT2H", "Charcot-Marie-Tooth disease type 2H", "autosomal recessive axonal CMT4C2", "axonal Charcot-Marie-Tooth disease with pyramidal involvement"], "xref": ["DOID:0110166", "GARD:0009196", "MEDGEN:334344", "MESH:C535415", "OMIM:607731", "Orphanet:101102", "SCTID:720637005", "UMLS:C1843173"]}
{"category": ["biolink:Disease"], "description": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..", "id": "MONDO:0011902", "name": "Charcot-marie-tooth disease type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT1F", "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL", "Charcot-Marie-Tooth disease, type 1F", "NEFL Charcot-Marie-Tooth disease type 1"], "xref": ["DOID:0110149", "GARD:0009191", "MEDGEN:334337", "MESH:C537987", "OMIM:607734", "Orphanet:101085", "SCTID:719980006", "UMLS:C1843164", "icd11.foundation:1160290076"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.", "id": "MONDO:0011903", "name": "Charcot-marie-tooth disease type 2j", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2J", "Charcot-Marie-Tooth disease, type 2J"], "xref": ["DOID:0110157", "GARD:0009198", "MEDGEN:375107", "MESH:C535417", "OMIM:607736", "Orphanet:99943", "SCTID:717014003", "UMLS:C1843153", "icd11.foundation:1498789307"]}
{"category": ["biolink:Disease"], "description": "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.", "id": "MONDO:0011904", "name": "Seizures, benign familial infantile, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BFNIS", "SCN2A benign familial infantile epilepsy", "benign familial infantile epilepsy caused by mutation in SCN2A", "benign familial neonatal-infantile seizures", "benign neonatal-infantile epilepsy", "seizures, benign familial infantile, 3", "seizures, benign familial infantile, type 3"], "xref": ["DOID:0081116", "GARD:0016521", "MEDGEN:375105", "MedDRA:10067866", "OMIM:607745", "Orphanet:140927", "UMLS:C1843140"]}
{"category": ["biolink:Disease"], "description": "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.", "id": "MONDO:0011906", "name": "Congenital bile acid synthesis defect 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1", "BASD1", "CBAS1", "HSD3B7 congenital bile acid synthesis defect", "bile acid synthesis defect, congenital, type 1", "congenital bile acid synthesis defect 1", "congenital bile acid synthesis defect caused by mutation in HSD3B7", "congenital bile acid synthesis defect type 1"], "xref": ["DOID:0111071", "GARD:0009813", "MEDGEN:335883", "MESH:C535442", "OMIM:607765", "Orphanet:79301", "UMLS:C1843116"]}
{"category": ["biolink:Disease"], "description": "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.", "id": "MONDO:0011907", "name": "Acrocapitofemoral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acrocapitofemoral dysplasia"], "xref": ["DOID:0050604", "GARD:0010605", "MEDGEN:334681", "MESH:C564334", "OMIM:607778", "Orphanet:63446", "SCTID:720416007", "UMLS:C1843096", "icd11.foundation:687396416"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)", "id": "MONDO:0011908", "name": "Juvenile myelomonocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JCML", "JMML", "juvenile chronic myelogenous leukaemia", "juvenile chronic myelogenous leukemia", "juvenile chronic myeloid leukaemia", "juvenile chronic myeloid leukemia", "juvenile chronic myelomonocytic leukaemia", "juvenile chronic myelomonocytic leukemia", "juvenile myelomonocytic leukemia", "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation", "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation", "leukemia, juvenile myelomonocytic, somatic"], "xref": ["DOID:0050458", "EFO:1000309", "GARD:0009884", "ICD10CM:C93.3", "ICDO:9946/3", "MEDGEN:138109", "MESH:D054429", "MedDRA:10023249", "NANDO:2200014", "NANDO:2200015", "NCIT:C9233", "NORD:1316", "OMIM:607785", "ONCOTREE:JMML", "Orphanet:86834", "SCTID:445227008", "UMLS:C0349639", "icd11.foundation:1786015803"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.", "id": "MONDO:0011909", "name": "Charcot-marie-tooth disease dominant intermediate d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTDID", "Charcot-Marie-Tooth disease caused by mutation in MPZ", "Charcot-Marie-Tooth disease dominant intermediate type D", "Charcot-Marie-Tooth disease, dominant Intermediate type D", "DI-CMTD", "MPZ Charcot-Marie-Tooth disease", "autosomal dominant intermediate Charcot-Marie-Tooth disease type D"], "xref": ["DOID:0110200", "GARD:0009207", "MEDGEN:334318", "MESH:C564333", "OMIM:607791", "Orphanet:100046", "SCTID:765747004", "UMLS:C1843075"]}
{"category": ["biolink:Disease"], "description": "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.", "id": "MONDO:0011911", "name": "Craniolenticulosutural dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Boyadjiev-Jabs syndrome", "craniolenticulosutural dysplasia"], "xref": ["DOID:0070307", "GARD:0016647", "MEDGEN:334671", "MESH:C564332", "OMIM:607812", "Orphanet:50814", "SCTID:725100001", "UMLS:C1843042", "icd11.foundation:970423180"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.", "id": "MONDO:0011912", "name": "Autosomal recessive nonsyndromic hearing loss 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 37"], "xref": ["DOID:0110495", "GARD:0022605", "MEDGEN:375076", "MESH:C564331", "OMIM:607821", "UMLS:C1843028"]}
{"category": ["biolink:Disease"], "description": "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.", "id": "MONDO:0011913", "name": "Alzheimer disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["AD3", "Alzheimer disease 3", "Alzheimer disease type 3", "Alzheimer disease, protection against, due to APOE3-Christchurch", "Alzheimer disease, type 3", "Alzheimer disease, type 3, with spastic paraparesis and apraxia", "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques", "Alzheimer's disease 3", "Alzheimer's disease type 3", "PSEN1 early-onset autosomal dominant Alzheimer disease", "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1", "familial Alzheimer disease, type 3", "familial Alzheimer's disease, type 3"], "xref": ["DOID:0110042", "GARD:0016513", "MEDGEN:334304", "MESH:C536598", "NCIT:C123412", "OMIM:607822", "UMLS:C1843013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011914", "name": "Hypotrichosis-lymphedema-telangiectasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypotrichosis-lymphedema-telangiectasia syndrome"], "xref": ["DOID:0111361", "GARD:0015420", "MEDGEN:375070", "MESH:C564327", "OMIM:607823", "UMLS:C1843004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011915", "name": "Mitral valve prolapse, myxomatous 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MMVP2", "mitral valve prolapse, myxomatous 2"], "xref": ["GARD:0015421", "MEDGEN:335856", "MESH:C564326", "OMIM:607829", "UMLS:C1843003"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.", "id": "MONDO:0011916", "name": "Charcot-marie-tooth disease axonal type 2k", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCMT2K", "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K", "autosomal recessive Charcot-Marie-Tooth disease with hoarseness", "autosomal recessive axonal CMT4C4", "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K"], "xref": ["DOID:0110167", "GARD:0012448", "MEDGEN:375064", "OMIM:607831", "Orphanet:101097", "SCTID:725047007", "UMLS:C1842983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011918", "name": "Anxiety", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["anxiety", "anxiety-related personality traits"], "xref": ["MEDGEN:1613", "MESH:D001007", "OMIM:607834", "UMLS:C0003467", "icd11.foundation:2027043655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011920", "name": "Autosomal dominant nonsyndromic hearing loss 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110571", "GARD:0018120", "MEDGEN:375052", "MESH:C564322", "OMIM:607841", "UMLS:C1842939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011921", "name": "Aural atresia, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["aural atresia, congenital"], "xref": ["GARD:0018275", "MEDGEN:375051", "MESH:C564321", "OMIM:607842", "UMLS:C1842937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011922", "name": "Nonimmune chronic idiopathic neutropenia of adults", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NI-CINA", "adult idiopathic neutropenia", "neutropenia, nonimmune chronic idiopathic, of adults", "nonimmune chronic idiopathic neutropenia of adults"], "xref": ["GARD:0016605", "MEDGEN:375050", "MESH:C564320", "OMIM:607847", "Orphanet:2688", "UMLS:C1842930"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011924", "name": "Panic disorder 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["panic disorder 2", "panic disorder type 2"], "xref": ["MEDGEN:375048", "OMIM:607853", "UMLS:C1842922"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.", "id": "MONDO:0011925", "name": "Congenital merosin-deficient muscular dystrophy 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD1A", "LAMA2 congenital muscular dystrophy", "MDC1A", "congenital merosin-deficient muscular dystrophy type 1A", "congenital muscular dystrophy caused by mutation in LAMA2", "congenital muscular dystrophy due to laminin alpha2 deficiency", "merosin-deficient congenital muscular dystrophy type 1A", "merosin-negative congenital muscular dystrophy", "muscular dystrophy, congenital merosin-deficient, type 1A", "muscular dystrophy, congenital, merosin deficient or partially deficient"], "xref": ["DOID:0110636", "GARD:0003843", "MEDGEN:224728", "NANDO:2200861", "NCIT:C118783", "OMIM:607855", "Orphanet:258", "SCTID:111503008", "UMLS:C1263858"]}
{"category": ["biolink:Disease"], "description": "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.", "id": "MONDO:0011927", "name": "Tufted angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nakagawa angioblastoma", "angioblastoma of Nakagawa", "tufted angioma", "tufted angioma (disease)", "tufted angioma of skin", "tufted angioma of the skin", "tufted hemangioma", "tufted hemangioma of skin", "tufted hemangioma of the skin", "tufted skin angioma"], "xref": ["GARD:0000425", "HP:0012329", "ICD9:215.9", "ICDO:9161/0", "MEDGEN:83402", "MESH:C536924", "NCIT:C4487", "OMIM:607859", "Orphanet:1063", "SCTID:705155008", "UMLS:C0346073", "icd11.foundation:1994573217"]}
{"category": ["biolink:Disease"], "description": "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.", "id": "MONDO:0011928", "name": "Caudal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dipygus", "split notochord syndrome"], "xref": ["GARD:0001164", "MEDGEN:335822", "MESH:C564315", "OMIM:607864", "Orphanet:1756", "SCTID:71464000", "UMLS:C1842884", "icd11.foundation:1949559803"]}
{"category": ["biolink:Disease"], "description": "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.", "id": "MONDO:0011929", "name": "Chromosome 1p36 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1p telomere deletion syndrome", "1p36 deletion syndrome", "1p36 microdeletion syndrome", "Del(1)(p36)", "chromosome 1p36 deletion syndrome, distal, isolated cases", "deletion 1p36", "deletion 1pter", "monosomy 1p36", "monosomy 1pter", "subtelomeric 1p36 deletion"], "xref": ["DECIPHER:18", "DOID:0060410", "GARD:0006082", "ICD9:758.39", "MEDGEN:334629", "MESH:C535362", "NANDO:1200682", "NCIT:C74983", "OMIM:607872", "Orphanet:1606", "SCTID:699306003", "UMLS:C1842870"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.", "id": "MONDO:0011930", "name": "Epilepsy, familial adult myoclonic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADRA2B epilepsy, familial adult myoclonic", "epilepsy, familial adult myoclonic caused by mutation in ADRA2B", "epilepsy, familial adult myoclonic, 2", "epilepsy, familial adult myoclonic, type 2"], "xref": ["DOID:0111692", "GARD:0018083", "MEDGEN:375031", "MESH:C564313", "OMIM:607876", "UMLS:C1842852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011931", "name": "Ovarian cancer, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["OVCAS1", "ovarian cancer, susceptibility to", "ovarian cancer, susceptibility to, 1"], "xref": ["GARD:0027808", "MEDGEN:390836", "OMIM:607893", "UMLS:C2675601"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.", "id": "MONDO:0011932", "name": "Hypotrichosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DSG4 hypotrichosis", "HYPT6", "LAH1", "Lah1", "autosomal recessive localised hypotrichosis", "hypotrichosis 6", "hypotrichosis caused by mutation in DSG4", "hypotrichosis type 6", "hypotrichosis, localized, autosomal recessive 1", "monilethrix-like hypotrichosis"], "xref": ["DOID:0110703", "GARD:0015423", "MEDGEN:335812", "MESH:C564312", "OMIM:607903", "UMLS:C1842839"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.", "id": "MONDO:0011933", "name": "Alg2-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG2-CDG", "ALG2-congenital disorder of glycosylation", "CDG 1I", "CDG Ii", "CDG syndrome type Ii", "CDG1I", "carbohydrate deficient glycoprotein syndrome type Ii", "congenital disorder of glycosylation type 1i", "congenital disorder of glycosylation type Ii", "congenital disorder of glycosylation, type Ii", "mannosyltransferase 2 deficiency"], "xref": ["DOID:0080561", "GARD:0009836", "MEDGEN:334618", "OMIM:607906", "Orphanet:79326", "UMLS:C1842836"]}
{"category": ["biolink:Disease"], "description": "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).", "id": "MONDO:0011934", "name": "Dermatofibrosarcoma protuberans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DFSP", "dermatofibrosarcoma", "dermatofibrosarcoma protuberans"], "xref": ["DOID:3507", "GARD:0009569", "ICDO:8832/3", "MEDGEN:811326", "MESH:D018223", "MedDRA:10057070", "NCIT:C4683", "OMIM:607907", "ONCOTREE:DFSP", "Orphanet:31112", "SCTID:276799004", "UMLS:C3693482", "icd11.foundation:1579898301"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.", "id": "MONDO:0011935", "name": "Retinitis pigmentosa 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSCN2 retinitis pigmentosa", "RP30", "retinitis pigmentosa 30", "retinitis pigmentosa caused by mutation in FSCN2", "retinitis pigmentosa type 30"], "xref": ["DOID:0110406", "GARD:0010401", "MEDGEN:334614", "OMIM:607921", "UMLS:C1842816"]}
{"category": ["biolink:Disease"], "description": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.", "id": "MONDO:0011936", "name": "Microphthalmia with brain and digit anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bakrania-Ragge syndrome", "MCOPS6", "microphthalmia with brain and digit anomalies", "microphthalmia, syndromic type 6", "syndromic microphthalmia type 6"], "xref": ["DOID:0111805", "GARD:0003645", "MEDGEN:355268", "MESH:C566440", "OMIM:607932", "Orphanet:139471", "SCTID:721878003", "UMLS:C1864689"]}
{"category": ["biolink:Disease"], "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.", "id": "MONDO:0011937", "name": "Peeling skin syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSTA peeling skin syndrome", "peeling skin syndrome 4", "peeling skin syndrome caused by mutation in CSTA", "peeling skin syndrome type 4"], "xref": ["DOID:0070523", "GARD:0018426", "MEDGEN:895692", "MESH:C564309", "OMIM:607936", "UMLS:C4225407"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.", "id": "MONDO:0011938", "name": "Atrial septal defect 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD2", "GATA4 atrial heart septal defect", "atrial heart septal defect caused by mutation in GATA4", "atrial heart septal defect type 2", "atrial septal defect 2", "atrial septal defect type 2"], "xref": ["DOID:0110107", "GARD:0024832", "MEDGEN:334249", "MESH:C538263", "OMIM:607941", "UMLS:C1842778"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011939", "name": "Spondyloenchondrodysplasia with immune dysregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Roifman Immunoskeletal syndrome", "SPENCD", "SPENCDI", "Spondyloenchondrodysplasia with immune dysregulation", "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia", "spondyloenchondrodysplasia", "spondyloenchondrodysplasia with immune dysregulation", "spondyloenchondromatosis", "spondylometaphyseal dysplasia with combined immunodeficiency", "spondylometaphyseal dysplasia with enchondromatous changes"], "xref": ["GARD:0004978", "ICD9:756.9", "ICD9:759.89", "MEDGEN:375009", "MESH:C535782", "MESH:C564307", "NANDO:2200744", "OMIM:271550", "OMIM:607944", "Orphanet:1855", "Orphanet:50816", "SCTID:254079002", "SCTID:703523004", "UMLS:C1842763"]}
{"category": ["biolink:Disease"], "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).", "id": "MONDO:0011945", "name": "Gaucher disease perinatal lethal", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease collodion type", "Gaucher disease perinatal lethal", "Gaucher disease, collodion type", "Gaucher disease, perinatal lethal", "Gaucher disease, perinatal-lethal form", "Gaucher's disease perinatal lethal", "fetal Gaucher disease", "foetal Gaucher disease", "perinatal lethal Gaucher disease"], "xref": ["DOID:0110960", "GARD:0010675", "MEDGEN:374996", "MESH:C564306", "OMIM:608013", "Orphanet:85212", "SCTID:870313002", "UMLS:C1842704"]}
{"category": ["biolink:Disease"], "description": "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.", "id": "MONDO:0011946", "name": "Diaphanospondylodysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["diaphanospondylodysostosis", "vertebral ossification, defect in, with nephrogenic rests"], "xref": ["GARD:0016674", "MEDGEN:374993", "MESH:C564305", "OMIM:608022", "Orphanet:66637", "SCTID:721094006", "UMLS:C1842691", "icd11.foundation:508093071"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.", "id": "MONDO:0011948", "name": "Pontocerebellar hypoplasia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH with optic atrophy", "PCH without dyskinesia", "PCH3", "PCLO non-syndromic pontocerebellar hypoplasia", "cerebellar atrophy with progressive microcephaly", "clam", "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO"], "xref": ["DOID:0060272", "GARD:0010708", "MEDGEN:334225", "MESH:C548072", "OMIM:608027", "Orphanet:97249", "SCTID:718609003", "UMLS:C1842687", "icd11.foundation:378477807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011949", "name": "Thai symphalangism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Thai symphalangism syndrome"], "xref": ["MEDGEN:374990", "MESH:C564303", "OMIM:608028", "UMLS:C1842679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011950", "name": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR6", "autosomal recessive spinocerebellar ataxia type 6"], "xref": ["DOID:0111617", "GARD:0004954", "MEDGEN:334220", "MESH:C537312", "OMIM:608029", "Orphanet:284332", "UMLS:C1842676"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.", "id": "MONDO:0011951", "name": "Amyotrophic lateral sclerosis type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS6", "FUS amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis caused by mutation in FUS"], "xref": ["DOID:0060198", "GARD:0009874", "MEDGEN:419901", "MESH:C567699", "OMIM:608030", "UMLS:C2931786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011952", "name": "Amyotrophic lateral sclerosis type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS7", "amyotrophic lateral sclerosis 7"], "xref": ["DOID:0060199", "GARD:0010500", "MEDGEN:334136", "MESH:C564300", "OMIM:608031", "UMLS:C1842674"]}
{"category": ["biolink:Disease"], "description": "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.", "id": "MONDO:0011953", "name": "Familial acute necrotizing encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["ADANE", "encephalopathy, acute, infection-induced, 3, susceptibility to", "encephalopathy, acute, infection-induced, susceptibility to, type 3", "recurrent acute necrotizing encephalopathy"], "xref": ["GARD:0013232", "MEDGEN:382634", "OMIM:608033", "Orphanet:88619", "SCTID:723359002", "UMLS:C2675556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011954", "name": "Melanoma, cutaneous malignant, susceptibility to, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CMM4", "melanoma, cutaneous malignant, 4", "melanoma, cutaneous malignant, susceptibility to, 4"], "xref": ["GARD:0027809", "MEDGEN:334129", "OMIM:608035", "UMLS:C1842643"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011955", "name": "Diabetes mellitus, noninsulin-dependent, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diabetes mellitus, noninsulin-dependent, 4", "diabetes mellitus, noninsulin-dependent, type 4"], "xref": ["GARD:0024833", "MEDGEN:334578", "MESH:C564299", "OMIM:608036", "UMLS:C1842642"]}
{"category": ["biolink:Disease"], "description": "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.", "id": "MONDO:0011957", "name": "Retinal macular dystrophy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCDR2", "macular dystrophy, retinal, type 2"], "xref": ["DOID:0070517", "GARD:0017467", "MEDGEN:1666864", "MESH:C562746", "OMIM:608051", "Orphanet:319640", "UMLS:C4749334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011958", "name": "Bile and pancreatic ducts, complete absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bile and pancreatic ducts, complete absence of"], "xref": ["MEDGEN:374974", "MESH:C564298", "OMIM:608063", "UMLS:C1842614"]}
{"category": ["biolink:Disease"], "description": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.", "id": "MONDO:0011959", "name": "Sweet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acute febrile neutrophilic dermatosis", "sweet syndrome"], "xref": ["DOID:0080746", "GARD:0000521", "ICD9:702.8", "MEDGEN:43097", "MESH:D016463", "MedDRA:10000748", "NCIT:C85177", "NORD:1749", "OMIM:608068", "Orphanet:3243", "SCTID:84625002", "UMLS:C0085077", "icd11.foundation:195212152"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in a mutation on chromosome 10q22.3.", "id": "MONDO:0011960", "name": "Schizophrenia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD11", "schizophrenia 11", "schizophrenia type 11"], "xref": ["DOID:0070087", "MEDGEN:334205", "OMIM:608078", "UMLS:C1842605"]}
{"category": ["biolink:Disease"], "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).", "id": "MONDO:0011962", "name": "Endometrial cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["cancer of endometrium", "endometrial cancer", "endometrial cancer, familial, autosomal dominant, somatic mutation", "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "endometrial carcinoma, somatic", "endometrium cancer", "malignant endometrial neoplasm", "malignant endometrium neoplasm", "malignant neoplasm of endometrium"], "xref": ["DOID:1380", "ICD10CM:C54.1", "MEDGEN:2840", "NCIT:C27815", "OMIM:608089", "UMLS:C0007103"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.", "id": "MONDO:0011963", "name": "Joubert syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORS2", "JBTS2", "Joubert syndrome 2", "Joubert syndrome caused by mutation in TMEM216", "Joubert syndrome type 2", "TMEM216 Joubert syndrome", "cerebellooculorenal syndrome 2"], "xref": ["DOID:0110988", "GARD:0010167", "MEDGEN:334114", "MESH:C536294", "OMIM:608091", "UMLS:C1842577"]}
{"category": ["biolink:Disease"], "description": "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).", "id": "MONDO:0011964", "name": "Dpagt1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Ij", "CDG-Ij", "CDG1J", "CDGIj", "DPAGT1-CDG", "DPAGT1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Ij", "congenital disorder of glycosylation type 1j", "congenital disorder of glycosylation type Ij", "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency"], "xref": ["DOID:0080562", "GARD:0009837", "MEDGEN:419694", "MESH:C535748", "NCIT:C126874", "OMIM:608093", "Orphanet:86309", "SCTID:725079003", "UMLS:C2931004"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.", "id": "MONDO:0011965", "name": "Familial temporal lobe epilepsy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ETL2", "familial temporal lobe epilepsy type 2"], "xref": ["DOID:0060755", "GARD:0024834", "MEDGEN:1683026", "MESH:C536956", "OMIM:608096", "UMLS:C4759869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011966", "name": "Periventricular heterotopia with microcephaly, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["periventricular heterotopia with microcephaly, autosomal recessive"], "xref": ["GARD:0015424", "MEDGEN:334110", "MESH:C564292", "OMIM:608097", "UMLS:C1842563"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011967", "name": "Heterotopia, periventricular, associated with chromosome 5p anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["heterotopia, periventricular, associated with chromosome 5P anomalies"], "xref": ["GARD:0015425", "MEDGEN:374963", "MESH:C564291", "OMIM:608098", "UMLS:C1842562"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.", "id": "MONDO:0011968", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-sarcoglycanopathy", "DMDA2", "LGMD2D", "SGCA autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA", "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency", "limb-girdle muscular dystrophy type 2D", "muscular dystrophy, limb-girdle, autosomal recessive 3", "muscular dystrophy, limb-girdle, type 2D"], "xref": ["DOID:0110278", "GARD:0000438", "MEDGEN:424706", "NCIT:C142081", "OMIM:608099", "Orphanet:62", "SCTID:715340002", "UMLS:C2936332"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.", "id": "MONDO:0011969", "name": "Alg8-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG8-CDG", "ALG8-congenital disorder of glycosylation", "CDG syndrome type Ih", "CDG-Ih", "CDG1H", "carbohydrate deficient glycoprotein syndrome type Ih", "congenital disorder of glycosylation type 1h", "congenital disorder of glycosylation type Ih", "glucosyltransferase 2 deficiency"], "xref": ["DOID:0080560", "GARD:0009834", "MEDGEN:419692", "MESH:C535746", "OMIM:608104", "Orphanet:79325", "SCTID:720977000", "UMLS:C2931002"]}
{"category": ["biolink:Disease"], "description": "A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.", "id": "MONDO:0011970", "name": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp"], "xref": ["DOID:0111645", "GARD:0017003", "MEDGEN:334104", "MESH:C535499", "OMIM:608105", "Orphanet:163727", "UMLS:C1842531", "icd11.foundation:1311096281"]}
{"category": ["biolink:Disease"], "description": "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.", "id": "MONDO:0011971", "name": "Hyper-igm syndrome type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HIGM5", "UNG hyper-IgM syndrome", "hyper-IgM syndrome 5", "hyper-IgM syndrome caused by mutation in UNG", "hyper-IgM syndrome due to UNG deficiency", "hyper-IgM syndrome due to uracil N-glycosylase", "hyper-IgM syndrome type 5", "immunodeficiency with hyper IgM, type 5"], "xref": ["DOID:0060759", "GARD:0010581", "MEDGEN:328420", "OMIM:608106", "Orphanet:101092", "UMLS:C1720958"]}
{"category": ["biolink:Disease"], "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.", "id": "MONDO:0011972", "name": "Ovarian hyperstimulation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OHSS", "ovarian hyperstimulation syndrome"], "xref": ["DOID:5425", "GARD:0016668", "ICD9:256.1", "MEDGEN:38966", "MESH:D016471", "MedDRA:10033266", "OMIM:608115", "Orphanet:64739", "SCTID:129635004", "UMLS:C0085083", "icd11.foundation:1216664013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011973", "name": "Zinc deficiency, transient neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["zinc deficiency, transient neonatal"], "xref": ["MEDGEN:330858", "MESH:C564286", "OMIM:608118", "UMLS:C1842486"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported.", "id": "MONDO:0011974", "name": "Retinitis pigmentosa 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP 7", "RP7", "retinitis pigmentosa 7", "retinitis pigmentosa type 7"], "xref": ["DOID:0110383", "GARD:0010386", "MEDGEN:334168", "OMIM:608133", "UMLS:C1842475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011975", "name": "Paternal uniparental disomy of chromosome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["UPD(14)pat", "paternal uniparental disomy of chromosome 14", "paternal uniparental disomy of chromosome type 14"], "xref": ["GARD:0005409", "MEDGEN:1843450", "MESH:C536471", "NANDO:1200685", "OMIM:608149", "Orphanet:96334", "UMLS:C5680251", "icd11.foundation:1835121942"]}
{"category": ["biolink:Disease"], "description": "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.", "id": "MONDO:0011976", "name": "Lipodystrophy-intellectual disability-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rajab-Spranger syndrome"], "xref": ["GARD:0016646", "MEDGEN:334166", "MESH:C564283", "OMIM:608154", "Orphanet:50811", "SCTID:721973006", "UMLS:C1842465"]}
{"category": ["biolink:Disease"], "description": "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.", "id": "MONDO:0011977", "name": "8q22.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nablus mask-like facial syndrome", "monosomy 8q22.1"], "xref": ["GARD:0004722", "MEDGEN:334165", "MESH:C536110", "OMIM:608156", "Orphanet:178303", "SCTID:719664004", "UMLS:C1842464"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011978", "name": "Coq-responsive oxphos deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["CoQ-responsive OXPHOS deficiency", "CoQ-responsive oxidative phosphorylation disorder"], "xref": ["MEDGEN:334164", "MESH:C535470", "OMIM:608158", "UMLS:C1842463"]}
{"category": ["biolink:Disease"], "description": "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.", "id": "MONDO:0011979", "name": "Adult-onset foveomacular vitelliform dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AOFMD", "AVMD", "Gass disease", "adult-onset foveomacular dystrophy", "adult-onset foveomacular dystrophy with choroidal neovascularization", "adult-onset vitelliform macular dystrophy", "macular dystrophy, vitelliform, type 3", "pseudo-Best disease", "pseudo-vitelliform macular dystrophy"], "xref": ["GARD:0010909", "MEDGEN:334280", "Orphanet:99000", "SCTID:232049001", "UMLS:C1842914", "icd11.foundation:558806410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011984", "name": "Synpolydactyly type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SD2, Debeer type", "SD2b", "SPD, Debeer type", "SPD2", "synpolydactyly type 2", "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses", "synpolydactyly, Debeer type"], "xref": ["GARD:0017359", "MEDGEN:331290", "MESH:C564278", "OMIM:608180", "Orphanet:295197", "UMLS:C1842422", "icd11.foundation:1370014661"]}
{"category": ["biolink:Disease"], "description": "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.", "id": "MONDO:0011985", "name": "Hyper-igm syndrome type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HIGM4", "hyper-IgM syndrome type 4"], "xref": ["DOID:0060760", "GARD:0010580", "MEDGEN:330847", "MESH:C564277", "OMIM:608184", "Orphanet:101091", "UMLS:C1842413"]}
{"category": ["biolink:Disease"], "description": "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.", "id": "MONDO:0011986", "name": "Tropical pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TCP", "tropical calcific chronic pancreatitis"], "xref": ["GARD:0016946", "MEDGEN:334069", "MESH:C564276", "OMIM:608189", "Orphanet:103918", "SCTID:724540009", "UMLS:C1842402", "icd11.foundation:1645607956"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.", "id": "MONDO:0011987", "name": "Cone-rod dystrophy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD13", "RPGRIP1 cone-rod dystrophy", "cone-rod dystrophy 13", "cone-rod dystrophy caused by mutation in RPGRIP1", "cone-rod dystrophy type 13"], "xref": ["DOID:0111016", "GARD:0015426", "MEDGEN:413025", "MESH:C567698", "OMIM:608194", "UMLS:C2750720"]}
{"category": ["biolink:Disease"], "description": "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.", "id": "MONDO:0011988", "name": "Neutrophil immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis", "neutrophil immunodeficiency syndrome"], "xref": ["DOID:0112064", "GARD:0017087", "MEDGEN:374920", "MESH:C564275", "OMIM:608203", "Orphanet:183707", "SCTID:723443003", "UMLS:C1842398", "icd11.foundation:1459690929"]}
{"category": ["biolink:Disease"], "description": "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).", "id": "MONDO:0011989", "name": "Leishmaniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:9065", "EFO:0005044", "GARD:0006881", "ICD10CM:B55", "ICD10WHO:B55", "ICD9:085", "ICD9:085.9", "MEDGEN:9714", "MESH:D007896", "MedDRA:10024198", "NCIT:C34767", "NORD:1895", "Orphanet:507", "SCTID:80612004", "UMLS:C0023281", "icd11.foundation:1082373067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011990", "name": "Seizures, benign familial neonatal, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BFNS3", "seizures, benign familial neonatal, 3"], "xref": ["GARD:0015427", "MEDGEN:334063", "MESH:C564274", "OMIM:608217", "UMLS:C1842382"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.", "id": "MONDO:0011991", "name": "Autosomal recessive nonsyndromic hearing loss 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110496", "GARD:0022606", "MEDGEN:330838", "MESH:C564273", "OMIM:608219", "UMLS:C1842381"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.", "id": "MONDO:0011992", "name": "Hereditary spastic paraplegia 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG25", "autosomal recessive spastic paraplegia type 25", "autosomal recessive spastic paraplegia-disc herniation syndrome", "hereditary spastic paraplegia type 25"], "xref": ["DOID:0110776", "GARD:0009582", "MEDGEN:424835", "MESH:C536861", "OMIM:608220", "Orphanet:101005", "SCTID:732933009", "UMLS:C2936860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011993", "name": "Aspirin resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aspirin resistance"], "xref": ["MEDGEN:330835", "OMIM:608223", "UMLS:C1842372"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.", "id": "MONDO:0011994", "name": "Autosomal dominant nonsyndromic hearing loss 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110567", "GARD:0018121", "MEDGEN:330834", "MESH:C564272", "OMIM:608224", "UMLS:C1842371"]}
{"category": ["biolink:Disease"], "description": "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.", "id": "MONDO:0011995", "name": "Cataract - congenital heart disease - neural tube defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017440", "MEDGEN:330832", "MESH:C564271", "OMIM:608227", "Orphanet:314993", "UMLS:C1842363"]}
{"category": ["biolink:Disease"], "description": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.", "id": "MONDO:0011996", "name": "Chronic myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCR-ABL Positive chronic myelogenous leukaemia", "BCR-ABL Positive chronic myelogenous leukemia", "CML", "CML - chronic myelogenous leukaemia", "CML - chronic myelogenous leukemia", "chronic granulocytic leukemia", "chronic myelocytic leukaemia", "chronic myelocytic leukemia", "chronic myelogenous leukaemia (CML)", "chronic myelogenous leukemia", "chronic myelogenous leukemia (CML)", "chronic myelogenous leukemia, BCR-ABL1 Positive", "chronic myelogenous leukemias", "chronic myeloid leukemia", "hematopoeitic - chronic myelocytic leukaemia (CML)", "hematopoeitic - chronic myelocytic leukemia (CML)", "leukimia, chronic myeloid", "myeloid leukemia, chronic"], "xref": ["DOID:0081088", "DOID:8552", "EFO:0000339", "GARD:0006105", "ICD9:205.1", "ICDO:9863/3", "ICDO:9875/3", "MEDGEN:75993", "MedDRA:10009013", "NANDO:2200013", "NCIT:C3174", "OMIM:608232", "ONCOTREE:CML", "Orphanet:521", "UMLS:C0279543"]}
{"category": ["biolink:Disease"], "description": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.", "id": "MONDO:0011997", "name": "Hermansky-pudlak syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AP3B1 Hermansky-Pudlak syndrome", "HPS-2", "HPS2", "Hermansky-Pudlak syndrome 2", "Hermansky-Pudlak syndrome caused by mutation in AP3B1", "Hermansky-Pudlak syndrome type 2"], "xref": ["DOID:0060540", "GARD:0015026", "MEDGEN:374912", "MESH:C537709", "NANDO:2200733", "NCIT:C150368", "OMIM:608233", "Orphanet:183678", "Orphanet:664500", "UMLS:C1842362"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.", "id": "MONDO:0011998", "name": "Autosomal dominant slowed nerve conduction velocity", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant slowed nerve conduction velocity", "slowed nerve conduction velocity, AD"], "xref": ["GARD:0016962", "MEDGEN:330829", "MESH:C564269", "OMIM:608236", "Orphanet:140481", "SCTID:764854006", "UMLS:C1842357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0011999", "name": "Otosclerosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC3", "otosclerosis 3"], "xref": ["DOID:0060922", "GARD:0024835", "MEDGEN:334054", "MESH:C564268", "OMIM:608244", "UMLS:C1842353"]}
{"category": ["biolink:Disease"], "description": "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.", "id": "MONDO:0012000", "name": "Specific phobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["simple phobia"], "xref": ["DOID:599", "EFO:1001918", "ICD9:300.29", "MEDGEN:65932", "MESH:C562465", "NCIT:C35284", "OMIM:608251", "SCTID:54587008", "UMLS:C0236801", "icd11.foundation:239513569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012001", "name": "Mandibulofacial dysostosis with ptosis, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mandibulofacial dysostosis with ptosis, autosomal dominant"], "xref": ["MEDGEN:331276", "MESH:C564267", "OMIM:608257", "UMLS:C1842349"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.", "id": "MONDO:0012002", "name": "Autosomal recessive nonsyndromic hearing loss 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110499", "GARD:0022607", "MEDGEN:334053", "MESH:C564266", "OMIM:608264", "UMLS:C1842345"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.", "id": "MONDO:0012003", "name": "Autosomal recessive nonsyndromic hearing loss 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 39"], "xref": ["DOID:0110497", "GARD:0022608", "MEDGEN:374909", "MESH:C564265", "NCIT:C129874", "OMIM:608265", "UMLS:C1842342"]}
{"category": ["biolink:Disease"], "description": "A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.", "id": "MONDO:0012004", "name": "Parathyroid gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenocarcinoma of parathyroid", "adenocarcinoma of parathyroid gland", "adenocarcinoma of the parathyroid", "adenocarcinoma of the parathyroid gland", "carcinoma of parathyroid", "carcinoma of parathyroid gland", "carcinoma of the parathyroid", "carcinoma of the parathyroid gland", "parathyroid adenocarcinoma", "parathyroid carcinoma", "parathyroid gland adenocarcinoma", "parathyroid gland carcinoma"], "xref": ["DOID:1540", "EFO:1000456", "GARD:0007329", "MEDGEN:146361", "NCIT:C4906", "OMIM:608266", "ONCOTREE:PTHC", "Orphanet:143", "SCTID:255037004", "UMLS:C0687150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012005", "name": "Growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy", "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy"], "xref": ["MEDGEN:330820", "MESH:C564264", "OMIM:608278", "UMLS:C1842321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012006", "name": "Craniosynostosis with ocular abnormalities and hallucal defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["craniosynostosis with ocular abnormalities and hallucal defects"], "xref": ["GARD:0024836", "MEDGEN:331266", "MESH:C564263", "OMIM:608279", "UMLS:C1842316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012007", "name": "Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities"], "xref": ["MEDGEN:331265", "MESH:C564262", "OMIM:608281", "UMLS:C1842315"]}
{"category": ["biolink:Disease"], "description": "Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.", "id": "MONDO:0012008", "name": "Lelis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lelis syndrome", "ectodermal dysplasia-acanthosis nigricans syndrome"], "xref": ["GARD:0010367", "MEDGEN:334042", "MESH:C564261", "OMIM:608290", "Orphanet:140936", "SCTID:719429003", "UMLS:C1842307"]}
{"category": ["biolink:Disease"], "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.", "id": "MONDO:0012011", "name": "Coronary artery disease, autosomal dominant, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["MEF2A coronary artery disease", "coronary artery disease caused by mutation in MEF2A", "coronary artery disease, autosomal dominant, 1", "coronary artery disease, autosomal dominant, type 1"], "xref": ["MEDGEN:330802", "MESH:C564258", "OMIM:608320", "UMLS:C1842247"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.", "id": "MONDO:0012012", "name": "Charcot-marie-tooth disease dominant intermediate c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTDIC", "Charcot-Marie-Tooth disease caused by mutation in YARS", "Charcot-Marie-Tooth disease dominant intermediate type C", "Charcot-Marie-Tooth disease, dominant Intermediate type C", "DI-CMTC", "YARS Charcot-Marie-Tooth disease", "autosomal dominant intermediate Charcot-Marie-Tooth disease type C"], "xref": ["DOID:0110199", "GARD:0012439", "MEDGEN:334023", "MESH:C564257", "OMIM:608323", "Orphanet:100045", "SCTID:765746008", "UMLS:C1842237"]}
{"category": ["biolink:Disease"], "description": "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.", "id": "MONDO:0012013", "name": "Weill-marchesani syndrome 2, dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GEMSS", "GEMSS syndrome", "WMS2", "Weill-Marchesani syndrome 2", "Weill-Marchesani syndrome type 2", "Weill-Marchesani syndrome, autosomal dominant", "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome", "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome"], "xref": ["DOID:0061274", "GARD:0002452", "MEDGEN:358388", "OMIM:608328", "Orphanet:2084", "SCTID:722450007", "UMLS:C1869115"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.", "id": "MONDO:0012014", "name": "Charcot-marie-tooth disease recessive intermediate a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTRIA", "Charcot-Marie-Tooth disease caused by mutation in GDAP1", "Charcot-Marie-Tooth disease recessive intermediate type A", "Charcot-Marie-Tooth disease, recessive Intermediate type a", "GDAP1 Charcot-Marie-Tooth disease", "RI-CMT type A", "RI-CMTA", "autosomal recessive intermediate Charcot-Marie-Tooth disease type A"], "xref": ["DOID:0110201", "GARD:0012453", "MEDGEN:334012", "MESH:C564256", "OMIM:608340", "Orphanet:217055", "UMLS:C1842197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012015", "name": "Nystagmus 3, congenital, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NYS3"], "xref": ["DOID:0111793", "MEDGEN:374873", "MESH:C537855", "OMIM:608345", "UMLS:C1842186"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.", "id": "MONDO:0012016", "name": "Capillary malformation-arteriovenous malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["CM-AVM"], "xref": ["GARD:0011904", "ICD9:747.69", "MEDGEN:334007", "MESH:C564254", "NCIT:C179668", "OMIMPS:608354", "Orphanet:137667", "SCTID:703533007", "UMLS:C1842180"]}
{"category": ["biolink:Disease"], "description": "A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.", "id": "MONDO:0012019", "name": "Spondyloepiphyseal dysplasia, kimberley type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia, Kimberley type"], "xref": ["DOID:0112282", "GARD:0016814", "MEDGEN:330777", "MESH:C564252", "OMIM:608361", "Orphanet:93283", "SCTID:719203001", "UMLS:C1842149", "icd11.foundation:485470320"]}
{"category": ["biolink:Disease"], "description": "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.", "id": "MONDO:0012020", "name": "Chromosome 22q11.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["22q11 duplication syndrome", "22q11.2 microduplication syndrome", "Duplication 22q11.2", "chromosome 22q11.2 microduplication syndrome", "chromosome 22q11.2 microduplication syndrome, isolated cases", "dup(22)(q11)", "duplication 22q11.2", "trisomy 22q11.2"], "xref": ["DECIPHER:32", "DOID:0060436", "GARD:0010557", "ICD9:758.5", "MEDGEN:436417", "MESH:C567224", "OMIM:608363", "Orphanet:1727", "SCTID:699311001", "UMLS:C2675369"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012021", "name": "Myopia 17, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP17", "myopia 17, autosomal dominant"], "xref": ["MEDGEN:854818", "OMIM:608367", "UMLS:C3888211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012022", "name": "Orofacial cleft 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OFC4", "orofacial cleft 4"], "xref": ["DOID:0080398", "MEDGEN:331228", "MESH:C564251", "OMIM:608371", "UMLS:C1842143"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.", "id": "MONDO:0012023", "name": "Autosomal dominant nonsyndromic hearing loss 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110572", "GARD:0018122", "MEDGEN:331222", "MESH:C564250", "OMIM:608372", "UMLS:C1842136"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.", "id": "MONDO:0012024", "name": "Retinitis pigmentosa 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CERKL retinitis pigmentosa", "RP26", "retinitis pigmentosa 26", "retinitis pigmentosa caused by mutation in CERKL", "retinitis pigmentosa type 26"], "xref": ["DOID:0110368", "GARD:0010397", "MEDGEN:333996", "MESH:C564249", "OMIM:608380", "UMLS:C1842127"]}
{"category": ["biolink:Disease"], "description": "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.", "id": "MONDO:0012025", "name": "Branchiootic syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SIX1 branchiootic syndrome", "branchiootic syndrome 3", "branchiootic syndrome caused by mutation in SIX1", "branchiootic syndrome type 3"], "xref": ["DOID:0061210", "GARD:0015430", "MEDGEN:333995", "MESH:C564248", "OMIM:608389", "UMLS:C1842124"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.", "id": "MONDO:0012029", "name": "Microcephaly 6, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CENPJ autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CENPJ", "microcephaly 6, primary, autosomal recessive"], "xref": ["DOID:0070290", "GARD:0015431", "MEDGEN:330770", "MESH:C564247", "OMIM:608393", "UMLS:C1842109"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.", "id": "MONDO:0012030", "name": "Autosomal dominant nonsyndromic hearing loss 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110568", "GARD:0018123", "MEDGEN:330769", "MESH:C564246", "OMIM:608394", "UMLS:C1842108"]}
{"category": ["biolink:Disease"], "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.", "id": "MONDO:0012031", "name": "Platelet-type bleeding disorder 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT10", "CD36 deficiency", "CD36 inherited bleeding disorder, platelet-type", "inherited bleeding disorder, platelet-type caused by mutation in CD36", "platelet-type bleeding disorder 10"], "xref": ["DOID:0111046", "GARD:0024837", "MEDGEN:374856", "MESH:C564245", "OMIM:608404", "UMLS:C1842090"]}
{"category": ["biolink:Disease"], "description": "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.", "id": "MONDO:0012032", "name": "Braddock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency"], "xref": ["GARD:0016652", "MEDGEN:333986", "MESH:C564244", "OMIM:608406", "Orphanet:52047", "SCTID:720575002", "UMLS:C1842082"]}
{"category": ["biolink:Disease"], "description": "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.", "id": "MONDO:0012033", "name": "Bradyopsia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PERRS", "bradyopsia", "prolonged electroretinal response suppression"], "xref": ["DOID:0050335", "GARD:0012299", "ICD9:368.8", "MEDGEN:331206", "MESH:C564243", "OMIMPS:608415", "Orphanet:75374", "SCTID:711163009", "UMLS:C1842073", "icd11.foundation:1497247503"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.", "id": "MONDO:0012034", "name": "Autosomal dominant limb-girdle muscular dystrophy type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD1F", "muscular dystrophy, limb-girdle, autosomal dominant 2"], "xref": ["DOID:0110304", "GARD:0012530", "MEDGEN:333983", "MESH:C564242", "OMIM:608423", "Orphanet:55595", "SCTID:719989007", "UMLS:C1842062"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.", "id": "MONDO:0012035", "name": "Craniosynostosis-intracranial calcifications syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Longman-Tolmie syndrome"], "xref": ["GARD:0016653", "MEDGEN:333981", "MESH:C564241", "OMIM:608432", "Orphanet:52054", "SCTID:720816004", "UMLS:C1842058"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.", "id": "MONDO:0012037", "name": "Intellectual disability, autosomal recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CC2D1A autosomal recessive non-syndromic intellectual disability", "MRT3", "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A", "intellectual disability, autosomal recessive 3", "intellectual disability, autosomal recessive type 3", "mental retardation, autosomal recessive 3", "mental retardation, autosomal recessive type 3"], "xref": ["DOID:0081179", "GARD:0022539", "MEDGEN:373870", "MESH:C563929", "OMIM:608443", "UMLS:C1838023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012038", "name": "Speech-sound disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["speech-sound disorder"], "xref": ["MEDGEN:866372", "MESH:C563928", "OMIM:608445", "UMLS:C4019167"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.", "id": "MONDO:0012040", "name": "Inflammatory bowel disease 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD9", "inflammatory bowel disease 9", "inflammatory bowel disease type 9"], "xref": ["DOID:0110886", "MEDGEN:324926", "MESH:C563926", "OMIM:608448", "UMLS:C1838019"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas.", "id": "MONDO:0012041", "name": "Familial adenomatous polyposis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAP2", "MAP", "MUTYH-associated polyposis", "MUTYH-related AFAP", "MUTYH-related adenomatous polyposis", "adenomas, multiple colorectal, autosomal recessive", "colorectal adenomatous polyposis, autosomal recessive", "familial adenomatous polyposis 2", "familial adenomatous polyposis, 2", "familial adenomatous polyposis, type 2"], "xref": ["DOID:0080410", "GARD:0010805", "MEDGEN:474474", "MESH:C563924", "NCIT:C96520", "OMIM:608456", "Orphanet:247798", "UMLS:C3272841"]}
{"category": ["biolink:Disease"], "description": "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.", "id": "MONDO:0012043", "name": "Reis-bucklers corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RBCD", "Reis-Bucklers corneal dystrophy", "anterior limiting membrane dystrophy type 1", "anterior limiting membrane dystrophy type I", "atypical granular corneal dystrophy", "corneal dystrophy of Bowman layer type 1", "corneal dystrophy of Bowman layer type I", "geographic corneal dystrophy", "granular corneal dystrophy type 3", "granular corneal dystrophy type III", "superficial granular corneal dystrophy"], "xref": ["DOID:0060453", "GARD:0009276", "ICD9:371.52", "MEDGEN:83284", "MESH:C535476", "OMIM:608470", "Orphanet:98961", "SCTID:231930000", "UMLS:C0339278"]}
{"category": ["biolink:Disease"], "description": "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.", "id": "MONDO:0012044", "name": "Corneal dystrophy, lattice type 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010320", "MEDGEN:332989", "MESH:C563923", "OMIM:608471", "UMLS:C1837974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012045", "name": "Myopia 5, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP5", "myopia 5, autosomal dominant"], "xref": ["MEDGEN:324913", "MESH:C563922", "OMIM:608474", "UMLS:C1837972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012046", "name": "Congenital corneal opacities, cornea guttata, and corectopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital corneal opacities, cornea guttata, and corectopia"], "xref": ["GARD:0024838", "MEDGEN:324911", "MESH:C563921", "OMIM:608484", "UMLS:C1837970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012047", "name": "Alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:373853", "MESH:C563920", "OMIM:608509", "UMLS:C1837946"]}
{"category": ["biolink:Disease"], "description": "Depression which is considered strictly biological.", "id": "MONDO:0012048", "name": "Endogenous depression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:1595", "MEDGEN:3763", "NCIT:C34532", "SCTID:300706003", "UMLS:C0011573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012049", "name": "Orofaciodigital syndrome vii", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OFD7", "Whelan syndrome", "orofaciodigital syndrome VII", "orofaciodigital syndrome type 7", "orofaciodigital syndrome type VII"], "xref": ["DOID:0060377", "GARD:0024839", "MEDGEN:162907", "MESH:C563104", "OMIM:608518", "Orphanet:90649", "UMLS:C0796100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012051", "name": "Periodontitis, aggressive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["periodontitis, aggressive, 2", "periodontitis, aggressive, type 2"], "xref": ["DOID:0051075", "MEDGEN:370671", "MESH:C566946", "OMIM:608526", "UMLS:C1969478"]}
{"category": ["biolink:Disease"], "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).", "id": "MONDO:0012052", "name": "Alg1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG1-CDG", "ALG1-congenital disorder of glycosylation", "CDG syndrome type Ik", "CDG-Ik", "CDG1K", "carbohydrate deficient glycoprotein syndrome type Ik", "congenital disorder of glycosylation type 1k", "congenital disorder of glycosylation type Ik", "mannosyltransferase 1 deficiency"], "xref": ["DOID:0080563", "GARD:0009838", "MEDGEN:419308", "MESH:C535749", "OMIM:608540", "Orphanet:79327", "SCTID:720941007", "UMLS:C2931005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012053", "name": "Aneurysm, intracranial berry, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB2"], "xref": ["DOID:0080965", "GARD:0010033", "MEDGEN:325285", "MESH:C536360", "OMIM:608542", "UMLS:C1837894"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in a mutation on chromosome 1p36.2.", "id": "MONDO:0012054", "name": "Schizophrenia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD12", "schizophrenia 12", "schizophrenia type 12"], "xref": ["DOID:0070088", "MEDGEN:373838", "OMIM:608543", "UMLS:C1837893"]}
{"category": ["biolink:Disease"], "description": "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.", "id": "MONDO:0012055", "name": "Larsen-like osseous dysplasia-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Larsen-like syndrome, isolated cases"], "xref": ["GARD:0016595", "MEDGEN:325280", "MESH:C563914", "OMIM:608545", "Orphanet:2370", "UMLS:C1837884"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.", "id": "MONDO:0012056", "name": "Leber congenital amaurosis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA9", "Leber congenital amaurosis 9", "Leber congenital amaurosis caused by mutation in NMNAT1", "Leber congenital amaurosis type 9", "NMNAT1 Leber congenital amaurosis"], "xref": ["DOID:0110005", "GARD:0009491", "MEDGEN:325277", "MESH:C536603", "OMIM:608553", "UMLS:C1837873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012059", "name": "Polydactyly, postaxial, type a4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A4"], "xref": ["GARD:0018175", "MEDGEN:325272", "MESH:C563909", "OMIM:608562", "UMLS:C1837868"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.", "id": "MONDO:0012060", "name": "Autosomal recessive nonsyndromic hearing loss 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 35"], "xref": ["DOID:0110493", "GARD:0022609", "MEDGEN:324897", "MESH:C563908", "OMIM:608565", "UMLS:C1837857"]}
{"category": ["biolink:Disease"], "description": "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.", "id": "MONDO:0012061", "name": "Familial sick sinus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial sinus node dysfunction", "hereditary sick sinus syndrome"], "xref": ["GARD:0013663", "MEDGEN:573766", "MESH:C563907", "MedDRA:10040639", "OMIMPS:608567", "Orphanet:166282", "SCTID:233913007", "UMLS:C0340491", "icd11.foundation:1495462959"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.", "id": "MONDO:0012062", "name": "Dilated cardiomyopathy 1o", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCC9 familial isolated dilated cardiomyopathy", "CMD1O", "cardiomyopathy, dilated, type 1O", "dilated cardiomyopathy type 1O", "familial isolated dilated cardiomyopathy caused by mutation in ABCC9"], "xref": ["DOID:0110451", "GARD:0015434", "MEDGEN:325268", "MESH:C563906", "OMIM:608569", "UMLS:C1837839"]}
{"category": ["biolink:Disease"], "description": "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.", "id": "MONDO:0012063", "name": "Ulnar/fibula ray defect-brachydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Morava-Mehes syndrome"], "xref": ["GARD:0016654", "MEDGEN:324890", "MESH:C563905", "OMIM:608571", "Orphanet:52056", "SCTID:719843001", "UMLS:C1837830"]}
{"category": ["biolink:Disease"], "description": "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.", "id": "MONDO:0012064", "name": "Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Burn-McKeown syndrome", "oculootofacial dysplasia"], "xref": ["DOID:0080695", "GARD:0010041", "MEDGEN:325265", "MESH:C563682", "OMIM:608572", "Orphanet:1200", "UMLS:C1837822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012066", "name": "Atrial fibrillation, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATFB1", "atrial fibrillation, familial, 1"], "xref": ["GARD:0024840", "MEDGEN:334469", "MESH:C538261", "OMIM:608583", "UMLS:C1843687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012068", "name": "Brachial palsy, familial congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachial palsy, familial congenital"], "xref": ["MEDGEN:324884", "MESH:C563901", "OMIM:608585", "UMLS:C1837810"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012069", "name": "Keratoconus 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KTCN3", "keratoconus 3"], "xref": ["GARD:0024841", "MEDGEN:324883", "MESH:C563900", "OMIM:608586", "UMLS:C1837809"]}
{"category": ["biolink:Disease"], "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.", "id": "MONDO:0012071", "name": "Congenital generalized lipodystrophy type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["AGPAT2 congenital generalised lipodystrophy (disease)", "AGPAT2 congenital generalized lipodystrophy (disease)", "BSCL1", "Berardinelli-Seip congenital lipodystrophy, type 1", "CGL1", "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2", "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2", "congenital generalized lipodystrophy type 1"], "xref": ["DOID:0111135", "GARD:0000084", "MEDGEN:318592", "OMIM:608594", "Orphanet:696189", "UMLS:C1720862"]}
{"category": ["biolink:Disease"], "description": "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.", "id": "MONDO:0012072", "name": "Familial partial lipodystrophy, kobberling type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPLD1", "familial partial lipodystrophy type 1"], "xref": ["DOID:0070207", "GARD:0012598", "MEDGEN:318591", "OMIM:608600", "Orphanet:79084", "SCTID:725035001", "UMLS:C1720859"]}
{"category": ["biolink:Disease"], "description": "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.", "id": "MONDO:0012073", "name": "Ribose-5-p isomerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017747", "ICD9:277.6", "MEDGEN:220946", "MESH:C563212", "OMIM:608611", "Orphanet:440706", "SCTID:124667004", "UMLS:C1291609"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012074", "name": "Mandibuloacral dysplasia with type b lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mandibuloacral dysplasia with type B lipodystrophy"], "xref": ["DOID:0081129", "GARD:0009989", "MEDGEN:332940", "MESH:C535706", "OMIM:608612", "Orphanet:90154", "UMLS:C1837756", "icd11.foundation:1199517264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012075", "name": "Oligodontia-cancer predisposition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["ODCRCS", "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome", "oligodontia-cancer predisposition syndrome", "oligodontia-colorectal cancer syndrome", "tooth agenesis-colorectal cancer syndrome"], "xref": ["GARD:0017376", "MEDGEN:324868", "MESH:C563898", "OMIM:608615", "Orphanet:300576", "UMLS:C1837750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012076", "name": "Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["midface hypoplasia, obesity, developmental delay, and neonatal hypotonia"], "xref": ["MEDGEN:325238", "MESH:C563896", "OMIM:608624", "UMLS:C1837730"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.", "id": "MONDO:0012077", "name": "Amyotrophic lateral sclerosis type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS8", "VAPB amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 8", "amyotrophic lateral sclerosis caused by mutation in VAPB", "amyotrophic lateral sclerosis type 8"], "xref": ["DOID:0050752", "GARD:0010499", "MEDGEN:325237", "MESH:C563895", "OMIM:608627", "UMLS:C1837728"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.", "id": "MONDO:0012078", "name": "Joubert syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["AHI1 Joubert syndrome", "JBTS3", "Joubert syndrome 3", "Joubert syndrome caused by mutation in AHI1", "Joubert syndrome type 3"], "xref": ["DOID:0110998", "GARD:0015435", "MEDGEN:332931", "MESH:C536295", "NCIT:C148259", "OMIM:608629", "UMLS:C1837713"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.", "id": "MONDO:0012080", "name": "Neuronopathy, distal hereditary motor, type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSPB1 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in HSPB1"], "xref": ["DOID:0111207", "GARD:0018263", "MEDGEN:382017", "MESH:C567084", "OMIM:608634", "UMLS:C2608087"]}
{"category": ["biolink:Disease"], "description": "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.", "id": "MONDO:0012081", "name": "15q11q13 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["15q11-q13 duplication syndrome", "15q11-q13 microduplication syndrome", "15q11q13 duplication syndrome", "Dup15q", "autism susceptibility 4", "dup(15)(q11q13)", "trisomy 15q11-q13", "trisomy 15q11q13"], "xref": ["GARD:0017172", "MEDGEN:390767", "NCIT:C126692", "OMIM:608636", "Orphanet:238446", "SCTID:719427001", "UMLS:C2675336"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.", "id": "MONDO:0012083", "name": "Autosomal dominant nonsyndromic hearing loss 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110557", "GARD:0018124", "MEDGEN:324846", "MESH:C563890", "OMIM:608641", "UMLS:C1837640"]}
{"category": ["biolink:Disease"], "description": "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.", "id": "MONDO:0012084", "name": "Aromatic l-amino acid decarboxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AADC deficiency", "aromatic L-amino acid decarboxylase deficiency", "aromatic L-amino-acid decarboxylase deficiency"], "xref": ["DOID:0090123", "GARD:0000770", "ICD10CM:E70.81", "ICD9:270.8", "MEDGEN:220945", "MESH:C537437", "NANDO:1200988", "NANDO:2200596", "NCIT:C142085", "NORD:2010", "OMIM:608643", "Orphanet:35708", "SCTID:237922009", "UMLS:C1291564", "icd11.foundation:1134258245"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.", "id": "MONDO:0012085", "name": "Primary ciliary dyskinesia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD3", "DNAH5 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 3", "primary ciliary dyskinesia 3", "primary ciliary dyskinesia caused by mutation in DNAH5", "primary ciliary dyskinesia type 3"], "xref": ["DOID:0110599", "GARD:0015436", "MEDGEN:325210", "MESH:C535278", "NCIT:C172392", "OMIM:608644", "UMLS:C1837618"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.", "id": "MONDO:0012086", "name": "Autosomal dominant nonsyndromic hearing loss 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110561", "GARD:0018125", "MEDGEN:325209", "MESH:C563888", "OMIM:608645", "UMLS:C1837617"]}
{"category": ["biolink:Disease"], "description": "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.", "id": "MONDO:0012087", "name": "Primary ciliary dyskinesia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD4", "primary ciliary dyskinesia type 4"], "xref": ["DOID:0110614", "GARD:0015437", "MEDGEN:324841", "MESH:C535279", "OMIM:608646", "UMLS:C1837616"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.", "id": "MONDO:0012088", "name": "Primary ciliary dyskinesia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CILD5", "HYDIN primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 5", "primary ciliary dyskinesia caused by mutation in HYDIN", "primary ciliary dyskinesia type 5"], "xref": ["DOID:0110617", "GARD:0015438", "MEDGEN:324840", "MESH:C563886", "OMIM:608647", "UMLS:C1837615"]}
{"category": ["biolink:Disease"], "description": "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.", "id": "MONDO:0012089", "name": "Ichthyosis prematurity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IPS", "congenital ichthyosis type 4", "ichthyosis prematurity syndrome", "idiopathic pneumonia syndrome"], "xref": ["GARD:0009886", "MEDGEN:324839", "MESH:C536271", "NCIT:C62590", "OMIM:608649", "Orphanet:88621", "SCTID:12381000132107", "UMLS:C1837610"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.", "id": "MONDO:0012090", "name": "Autosomal dominant nonsyndromic hearing loss 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110570", "GARD:0018126", "MEDGEN:324838", "MESH:C563885", "OMIM:608652", "UMLS:C1837609"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.", "id": "MONDO:0012091", "name": "Autosomal recessive nonsyndromic hearing loss 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110466", "DOID:0110491", "GARD:0022610", "MEDGEN:373370", "MESH:C563884", "OMIM:608653", "UMLS:C1837608"]}
{"category": ["biolink:Disease"], "description": "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.", "id": "MONDO:0012092", "name": "Hereditary sensory and autonomic neuropathy type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN5", "NGF autosomal recessive hereditary sensory and autonomic neuropathy", "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF", "congenital insensitivity to pain and thermal analgesia", "hereditary sensory and autonomic neuropathy type V"], "xref": ["DOID:0070145", "GARD:0012328", "MEDGEN:6916", "OMIM:608654", "Orphanet:64752", "PMID:14976160", "PMID:77656", "SCTID:128206006", "UMLS:C0020075", "icd11.foundation:1411011731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012093", "name": "Prostate cancer, hereditary, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 3", "prostate cancer, hereditary, type 3", "prostate cancer, susceptibility to, 3"], "xref": ["GARD:0015439", "MEDGEN:373367", "MESH:C563883", "OMIM:608656", "UMLS:C1837595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012094", "name": "Prostate cancer, hereditary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 4", "prostate cancer, hereditary, type 4", "prostate cancer, susceptibility to, 4"], "xref": ["GARD:0015440", "MEDGEN:325204", "MESH:C563882", "OMIM:608658", "UMLS:C1837593"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.", "id": "MONDO:0012095", "name": "Intellectual disability-brachydactyly-pierre robin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017583", "MEDGEN:325196", "MESH:C563880", "OMIM:608670", "Orphanet:364577", "UMLS:C1837564"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.", "id": "MONDO:0012096", "name": "Charcot-marie-tooth disease axonal type 2l", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2L", "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8", "HSPB8 Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2L"], "xref": ["DOID:0110174", "GARD:0012432", "MEDGEN:324826", "OMIM:608673", "Orphanet:99945", "SCTID:719513008", "UMLS:C1837552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012097", "name": "Spondylocostal dysostosis 2, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondylocostal dysostosis 2, autosomal recessive"], "xref": ["DOID:0112362", "GARD:0009703", "MEDGEN:332481", "OMIM:608681", "UMLS:C1837549"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.", "id": "MONDO:0012098", "name": "Spinocerebellar ataxia type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA20", "spinocerebellar ataxia type 20"], "xref": ["DOID:0050971", "GARD:0009997", "MEDGEN:373352", "MESH:C537199", "OMIM:608687", "Orphanet:101110", "SCTID:718771009", "UMLS:C1837541", "icd11.foundation:960716995"]}
{"category": ["biolink:Disease"], "description": "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.", "id": "MONDO:0012099", "name": "Aica-ribosiduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["5-amino-4-imidazole carboxamide ribosiduria", "AICA-ribosiduria due to ATIC deficiency", "ATIC deficiency"], "xref": ["GARD:0013781", "MEDGEN:332474", "MESH:C563876", "OMIM:608688", "Orphanet:250977", "SCTID:725289009", "UMLS:C1837530"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012101", "name": "Glaucoma 1, open angle, j", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC1J", "JOAG1J", "JOAG2", "glaucoma 1, open angle, J"], "xref": ["GARD:0018228", "MEDGEN:324818", "MESH:C563874", "OMIM:608695", "UMLS:C1837528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012102", "name": "Glaucoma 1, open angle, k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC1K", "JOAG1K", "glaucoma 1, open angle, K", "glaucoma 1K, primary open angle, juvenile-onset"], "xref": ["GARD:0018229", "MEDGEN:324817", "MESH:C563873", "OMIM:608696", "UMLS:C1837527"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.", "id": "MONDO:0012103", "name": "Spinocerebellar ataxia type 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA25"], "xref": ["DOID:0050974", "GARD:0009996", "MEDGEN:373347", "MESH:C537202", "OMIM:608703", "Orphanet:101111", "SCTID:718770005", "UMLS:C1837518", "icd11.foundation:8347192"]}
{"category": ["biolink:Disease"], "description": "A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.", "id": "MONDO:0012104", "name": "Acquired partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APLD", "Barraquer-Simons syndrome", "acquired partial lipodystrophy", "partial acquired lipodystrophy", "progressive cephalothoracic lipodystrophy"], "xref": ["GARD:0010509", "MEDGEN:66352", "MESH:C562448", "NANDO:1200862", "NCIT:C129723", "Orphanet:79087", "SCTID:75659004", "UMLS:C0220989", "icd11.foundation:2042663302"]}
{"category": ["biolink:Disease"], "description": "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.", "id": "MONDO:0012105", "name": "Granulomatosis with polyangiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GPA", "Wegener granulomatosis", "Wegener's granulomatosis", "Wegener's syndrome", "granulomatosis - Wegener's", "granulomatosis with polyangiitis", "necrotizing respiratory granulomatosis", "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis"], "xref": ["DOID:12132", "EFO:0005297", "GARD:0007880", "ICD10CM:M31.3", "ICD9:446.4", "MEDGEN:811223", "MESH:D014890", "MedDRA:10047888", "NANDO:1200263", "NANDO:1201009", "NANDO:2200424", "NCIT:C123111", "NCIT:C3444", "NORD:1840", "OMIM:608710", "Orphanet:900", "SCTID:195353004", "UMLS:C3495801", "icd11.foundation:1020056159"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.", "id": "MONDO:0012106", "name": "Microcephaly 5, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASPM autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in ASPM", "microcephaly 5, primary, autosomal recessive"], "xref": ["DOID:0070280", "GARD:0015441", "MEDGEN:373344", "MESH:C563871", "OMIM:608716", "UMLS:C1837501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012107", "name": "Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia"], "xref": ["MEDGEN:324809", "MESH:C563870", "OMIM:608720", "UMLS:C1837492"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.", "id": "MONDO:0012108", "name": "Spondyloepimetaphyseal dysplasia, matrilin-3 type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD, MATN3-related", "SEMD, matrilin-3 type", "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type"], "xref": ["GARD:0010611", "MEDGEN:325181", "MESH:C563869", "OMIM:608728", "Orphanet:156728", "SCTID:719166003", "UMLS:C1837481", "icd11.foundation:1983063881"]}
{"category": ["biolink:Disease"], "description": "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.", "id": "MONDO:0012110", "name": "Growth delay due to insulin-like growth factor type 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IGF-1 deficiency", "growth delay-deafness- intellectual disability syndrome", "growth retardation with deafness and mental retardation due to IGF1 deficiency", "primary insulin-like growth factor deficiency"], "xref": ["GARD:0010627", "MEDGEN:373337", "MESH:C563867", "OMIM:608747", "Orphanet:73272", "SCTID:724385009", "UMLS:C1837475"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.", "id": "MONDO:0012111", "name": "Hypertrophic cardiomyopathy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYL3 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, 8", "cardiomyopathy, familial hypertrophic, type 8", "cardiomyopathy, hypertrophic, 8", "hypertrophic cardiomyopathy 8", "hypertrophic cardiomyopathy caused by mutation in MYL3", "hypertrophic cardiomyopathy type 8"], "xref": ["DOID:0110314", "GARD:0024842", "MEDGEN:324806", "MESH:C563866", "OMIM:608751", "UMLS:C1837471"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.", "id": "MONDO:0012112", "name": "Hypertrophic cardiomyopathy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH10", "MYL2 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, 10", "cardiomyopathy, familial hypertrophic, type 10", "cardiomyopathy, hypertrophic, 10", "hypertrophic cardiomyopathy 10", "hypertrophic cardiomyopathy caused by mutation in MYL2", "hypertrophic cardiomyopathy type 10"], "xref": ["DOID:0110316", "GARD:0024843", "MEDGEN:331754", "MESH:C563865", "OMIM:608758", "UMLS:C1834460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012114", "name": "Ehlers-danlos syndrome, beasley-cohen type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "synonym": ["Ehlers-Danlos syndrome, Beasley-Cohen type"], "xref": ["GARD:0010102", "MEDGEN:332459", "MESH:C536199", "OMIM:608763", "UMLS:C1837462"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.", "id": "MONDO:0012116", "name": "Spinocerebellar ataxia type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA8", "spinocerebellar ataxia type 8"], "xref": ["DOID:0050959", "GARD:0004956", "MEDGEN:332457", "OMIM:608768", "Orphanet:98760", "SCTID:715753001", "UMLS:C1837454", "icd11.foundation:1735913595"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).", "id": "MONDO:0012117", "name": "Alg9-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG9-CDG", "ALG9-congenital disorder of glycosylation", "CDG syndrome type IL", "CDG-IL", "CDG1L", "carbohydrate deficient glycoprotein syndrome type 1L", "congenital disorder of glycosylation type 1L", "mannosyltransferase 7-9 deficiency"], "xref": ["DOID:0080564", "GARD:0009839", "MEDGEN:443955", "MESH:C535750", "OMIM:608776", "Orphanet:79328", "SCTID:720978005", "UMLS:C2931006"]}
{"category": ["biolink:Disease"], "description": "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.", "id": "MONDO:0012118", "name": "Cog7-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIe", "CDG-IIe", "CDG2E", "COG7-CDG", "COG7-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIe", "congenital disorder of glycosylation type 2e", "congenital disorder of glycosylation type IIe"], "xref": ["DOID:0070257", "GARD:0009842", "MEDGEN:419311", "MESH:C535754", "OMIM:608779", "Orphanet:79333", "SCTID:717773005", "UMLS:C2931010"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.", "id": "MONDO:0012120", "name": "Pyruvate dehydrogenase phosphatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PDH phosphatase deficiency", "pyruvate dehydrogenase phosphatase deficiency"], "xref": ["GARD:0009888", "MEDGEN:332448", "MESH:C536258", "OMIM:608782", "Orphanet:79246", "UMLS:C1837429", "icd11.foundation:1709497558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012121", "name": "Otosclerosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC5", "otosclerosis 5"], "xref": ["DOID:0060924", "GARD:0024844", "MEDGEN:325168", "MESH:C563858", "OMIM:608787", "UMLS:C1837422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012122", "name": "Moyamoya disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYMY3"], "xref": ["GARD:0015442", "MEDGEN:373326", "MESH:C536993", "OMIM:608796", "UMLS:C1837418"]}
{"category": ["biolink:Disease"], "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.", "id": "MONDO:0012123", "name": "Congenital disorder of glycosylation type 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Ie", "CDG-Ie", "CDG1E", "CDGIe", "DPM1 congenital disorder of glycosylation", "Dol-P-mannosyltransferase deficiency", "carbohydrate deficient glycoprotein syndrome type Ie", "congenital disorder of glycosylation caused by mutation in DPM1", "congenital disorder of glycosylation type 1E", "congenital disorder of glycosylation type 1e", "congenital disorder of glycosylation type Ie"], "xref": ["DOID:0080557", "GARD:0009831", "MEDGEN:324784", "MESH:C535743", "NCIT:C126871", "OMIM:608799", "Orphanet:79322", "SCTID:725078006", "UMLS:C1837396"]}
{"category": ["biolink:Disease"], "description": "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.", "id": "MONDO:0012124", "name": "Sudden infant death-dysgenesis of the testes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SIDDT"], "xref": ["GARD:0012382", "MEDGEN:332428", "MESH:C563856", "OMIM:608800", "Orphanet:168593", "UMLS:C1837371"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.", "id": "MONDO:0012125", "name": "Hypomyelinating leukodystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GJC2 leukodystrophy", "HLD2", "PMLD1", "Pelizaeus-Merzbacher-like disease due to GJC2 mutation", "hypomyelinating leukodystrophy type 2", "leukodystrophy caused by mutation in GJC2", "leukodystrophy, hypomyelinating, type 2"], "xref": ["DOID:0060787", "GARD:0017293", "MEDGEN:325157", "MESH:C563855", "OMIM:608804", "Orphanet:280282", "UMLS:C1837355"]}
{"category": ["biolink:Disease"], "description": "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.", "id": "MONDO:0012126", "name": "Familial avascular necrosis of femoral head", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["aseptic Necrosis of femoral head", "aseptic Necrosis of head of femur", "familial osteonecrosis of the femoral head"], "xref": ["GARD:0010914", "MEDGEN:909851", "MESH:D005271", "NANDO:1200373", "NCIT:C35480", "OMIMPS:608805", "Orphanet:86820", "SCTID:715657008", "UMLS:C4275066", "icd11.foundation:1216860745"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.", "id": "MONDO:0012127", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2j", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2J", "TTN autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN", "muscular dystrophy, limb-girdle, autosomal recessive 10", "muscular dystrophy, limb-girdle, type 2J"], "xref": ["DOID:0110283", "GARD:0012534", "MEDGEN:324741", "MESH:C563854", "OMIM:608807", "Orphanet:140922", "UMLS:C1837342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012129", "name": "Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema"], "xref": ["MEDGEN:324768", "MESH:C563852", "OMIM:608809", "UMLS:C1837329"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.", "id": "MONDO:0012130", "name": "Myofibrillar myopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRYAB autosomal dominant distal myopathy", "CRYAB-related myofibrillar myopathy", "alpha-B crystallinopathy", "autosomal dominant distal myopathy caused by mutation in CRYAB", "late-onset distal crystallinopathy", "myofibrillar myopathy type 2", "myopathy, myofibrillar, type 2"], "xref": ["DOID:0080093", "GARD:0017651", "MEDGEN:324735", "MESH:C563848", "OMIM:608810", "Orphanet:399058", "UMLS:C1837317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012131", "name": "Metaphyseal undermodeling, spondylar dysplasia, and overgrowth", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["metaphyseal undermodeling, spondylar dysplasia, and overgrowth", "overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"], "xref": ["GARD:0010066", "MEDGEN:373306", "MESH:C537355", "OMIM:608811", "Orphanet:498485", "UMLS:C1837316"]}
{"category": ["biolink:Disease"], "description": "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.", "id": "MONDO:0012132", "name": "Colorectal cancer, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GALNT12 colorectal cancer", "colorectal cancer caused by mutation in GALNT12", "colorectal cancer, susceptibility to, 1", "colorectal cancer, susceptibility to, type 1"], "xref": ["GARD:0027810", "MEDGEN:324734", "OMIM:608812", "UMLS:C1837315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012133", "name": "Lateral semicircular canal malformation, familial, with external and middle ear abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lateral semicircular canal malformation, familial, with external and middle ear abnormalities"], "xref": ["MEDGEN:373305", "MESH:C537879", "OMIM:608814", "UMLS:C1837314"]}
{"category": ["biolink:Disease"], "description": "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.", "id": "MONDO:0012136", "name": "Carnitine palmitoyl transferase ii deficiency, neonatal form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CPT II deficiency, lethal neonatal", "CPT2, lethal systemic form", "CPT2, neonatal form", "CPTII, lethal systemic form", "CPTII, neonatal form", "Carnitine palmitoyl transferase II deficiency, lethal systemic form", "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form", "Carnitine palmitoyl transferase deficiency type 2, neonatal form", "carnitine palmitoyl transferase II deficiency, neonatal form"], "xref": ["GARD:0017151", "MEDGEN:318896", "MESH:C563463", "NANDO:2201132", "OMIM:608836", "Orphanet:228308", "UMLS:C1833518"]}
{"category": ["biolink:Disease"], "description": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).", "id": "MONDO:0012137", "name": "Carney complex - trismus - pseudocamptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Carney complex variant"], "xref": ["GARD:0017448", "MEDGEN:332400", "OMIM:608837", "Orphanet:319340", "UMLS:C1837245"]}
{"category": ["biolink:Disease"], "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.", "id": "MONDO:0012138", "name": "Muscular dystrophy-dystroglycanopathy type b6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MDC1D", "MDDGB6", "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6"], "xref": ["DOID:0110637", "GARD:0024846", "MEDGEN:373284", "MESH:C563844", "OMIM:608840", "Orphanet:98894", "UMLS:C1837229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012139", "name": "Macular dystrophy, retinal, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["macular dystrophy, retinal, 3", "macular dystrophy, retinal, type 3"], "xref": ["DOID:0070440", "GARD:0024847", "MEDGEN:854716", "OMIM:608850", "UMLS:C3888009"]}
{"category": ["biolink:Disease"], "description": "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.", "id": "MONDO:0012142", "name": "Orofacial cleft 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MSX1 orofacial cleft", "orofacial cleft 5", "orofacial cleft caused by mutation in MSX1", "orofacial cleft type 5"], "xref": ["DOID:0080399", "GARD:0018305", "MEDGEN:373280", "MESH:C563843", "OMIM:608874", "UMLS:C1837210"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012143", "name": "Hereditary cryohydrocytosis with reduced stomatin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ChC type 2", "hereditary cryohydrocytosis type 2", "sdCHC", "stomatin-deficient cryohydrocytosis"], "xref": ["GARD:0017036", "MEDGEN:332390", "MESH:C563840", "OMIM:608885", "Orphanet:168577", "UMLS:C1837206", "icd11.foundation:1459095719"]}
{"category": ["biolink:Disease"], "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.", "id": "MONDO:0012144", "name": "Waardenburg syndrome type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["SNAI2 Waardenburg syndrome type 2", "WS2D", "Waardenburg syndrome type 2 caused by mutation in SNAI2", "Waardenburg syndrome type IID"], "xref": ["DOID:0110952", "MEDGEN:323102", "MESH:C563839", "OMIM:608890", "UMLS:C1837203"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.", "id": "MONDO:0012145", "name": "Macular degeneration, age-related, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FBLN5 age-related macular degeneration", "age-related macular degeneration caused by mutation in FBLN5", "macular Degeneration, age-related, type 3", "macular degeneration, age-related, 3"], "xref": ["GARD:0024848", "MEDGEN:373276", "MESH:C563838", "OMIM:608895", "UMLS:C1837187"]}
{"category": ["biolink:Disease"], "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.", "id": "MONDO:0012146", "name": "Familial hemophagocytic lymphohistiocytosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FHL3", "HLH3", "HPLH3", "UNC13D genetic hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis type 3", "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D", "hemophagocytic lymphohistiocytosis, familial, type 3"], "xref": ["DOID:0110923", "GARD:0009928", "MEDGEN:332383", "MESH:C537251", "NANDO:2200729", "OMIM:608898", "UMLS:C1837174"]}
{"category": ["biolink:Disease"], "description": "Any myopia in which the cause of the disease is a mutation in the SCO2 gene.", "id": "MONDO:0012154", "name": "Myopia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCO2 myopia (disease)", "myopia (disease) caused by mutation in SCO2", "myopia 6", "myopia type 6"], "xref": ["GARD:0009937", "MEDGEN:324696", "MESH:C536105", "OMIM:608908", "UMLS:C1837148"]}
{"category": ["biolink:Disease"], "description": "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.", "id": "MONDO:0012155", "name": "Choanal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atresia of nares"], "xref": ["DOID:9574", "GARD:0016951", "ICD10CM:Q30.0", "ICD9:748.0", "MEDGEN:3395", "MESH:D002754", "MedDRA:10008587", "OMIM:608911", "Orphanet:137914", "SCTID:204508009", "UMLS:C0008297", "icd11.foundation:2099486655"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.", "id": "MONDO:0012156", "name": "Myasthenic syndrome, congenital, 1b, fast-channel", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS1B", "congenital myasthenic syndrome type 1B", "myasthenic syndrome, congenital, 1B, fast-channel"], "xref": ["DOID:0110662", "GARD:0015445", "MEDGEN:909200", "OMIM:608930", "UMLS:C4225405"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "id": "MONDO:0012157", "name": "Congenital myasthenic syndrome 4c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS4C", "congenital myasthenic syndrome type 4C"], "xref": ["DOID:0110679", "GARD:0010108", "MEDGEN:373251", "OMIM:608931", "UMLS:C1837091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012158", "name": "Keratoconus 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KTCN2", "keratoconus 2"], "xref": ["GARD:0024849", "MEDGEN:332363", "MESH:C563827", "OMIM:608932", "UMLS:C1837090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012159", "name": "Lung cancer susceptibility 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["LNCR1", "lung cancer susceptibility", "lung cancer susceptibility 1"], "xref": ["GARD:0027811", "MEDGEN:373250", "OMIM:608935", "UMLS:C1837089"]}
{"category": ["biolink:Disease"], "description": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.", "id": "MONDO:0012160", "name": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMD-CRD", "SmD-CRD", "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"], "xref": ["DOID:0112300", "GARD:0010647", "MEDGEN:324684", "MESH:C563825", "OMIM:608940", "Orphanet:85167", "UMLS:C1837073"]}
{"category": ["biolink:Disease"], "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.", "id": "MONDO:0012162", "name": "Patterned macular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTNNA1 patterned macular dystrophy", "MDPT2", "macular dystrophy, patterned, type 2", "patterned macular dystrophy caused by mutation in CTNNA1", "patterned macular dystrophy type 2"], "xref": ["DOID:0060864", "GARD:0018238", "MEDGEN:332348", "OMIM:608970", "UMLS:C1837029"]}
{"category": ["biolink:Disease"], "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.", "id": "MONDO:0012163", "name": "Immunodeficiency 104", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD104", "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID", "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive", "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"], "xref": ["DOID:0090014", "GARD:0018293", "MEDGEN:1801019", "MESH:C563822", "OMIM:608971", "UMLS:C5676890"]}
{"category": ["biolink:Disease"], "description": "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.", "id": "MONDO:0012164", "name": "Meacham syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meacham syndrome", "Meacham-Winn-Culler syndrome", "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"], "xref": ["GARD:0003432", "MEDGEN:373234", "MESH:C538162", "OMIM:608978", "Orphanet:3097", "SCTID:722461004", "UMLS:C1837026", "icd11.foundation:1307620543"]}
{"category": ["biolink:Disease"], "description": "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.", "id": "MONDO:0012165", "name": "Bnar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bifid nose with or without anorectal and renal anomalies"], "xref": ["GARD:0010595", "MEDGEN:413305", "MESH:C567672", "OMIM:608980", "Orphanet:217266", "SCTID:717940006", "UMLS:C2750433"]}
{"category": ["biolink:Disease"], "description": "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.", "id": "MONDO:0012166", "name": "Autosomal dominant sensory ataxia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADSA", "RNF170 hereditary ataxia", "SNAX1", "hereditary ataxia caused by mutation in RNF170"], "xref": ["DOID:0111170", "GARD:0024850", "MEDGEN:332346", "OMIM:608984", "UMLS:C1837015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012167", "name": "Atrial fibrillation, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATFB2", "atrial fibrillation, familial, 2"], "xref": ["GARD:0015446", "MEDGEN:324886", "MESH:C563903", "OMIM:608988", "UMLS:C1837812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012169", "name": "Premature ovarian failure 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["premature ovarian failure 3", "premature ovarian failure type 3"], "xref": ["DOID:0080860", "GARD:0024851", "MEDGEN:373230", "MESH:C563816", "OMIM:608996", "UMLS:C1837008"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.", "id": "MONDO:0012170", "name": "Autosomal recessive nonsyndromic hearing loss 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 36", "deafness, neurosensory, without vestibular involvement, autosomal dominant"], "xref": ["DOID:0110494", "GARD:0022611", "MEDGEN:324662", "MESH:C563815", "OMIM:609006", "UMLS:C1837007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012171", "name": "Marfanoid habitus with situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["marfanoid habitus with situs inversus"], "xref": ["MEDGEN:323046", "MESH:C563814", "OMIM:609008", "UMLS:C1836994"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..", "id": "MONDO:0012172", "name": "Mitochondrial trifunctional protein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TFP deficiency", "TFPD", "mitochondrial trifunctional protein deficiency"], "xref": ["DOID:0111277", "GARD:0003684", "ICD9:277.85", "MEDGEN:370665", "MESH:C566945", "NANDO:1200974", "NANDO:2200515", "NANDO:2201147", "NCIT:C98991", "OMIMPS:609015", "Orphanet:746", "SCTID:237999008", "UMLS:C1969443", "icd11.foundation:1018083832"]}
{"category": ["biolink:Disease"], "description": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.", "id": "MONDO:0012173", "name": "Long chain 3-hydroxyacyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HELLP syndrome, maternal, of pregnancy", "LCHAD deficiency", "LCHADD", "fatty liver, acute, of pregnancy", "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"], "xref": ["DOID:0061186", "GARD:0006867", "MEDGEN:778253", "NCIT:C129929", "OMIM:609016", "Orphanet:5", "SCTID:726021008", "UMLS:C3711645", "icd11.foundation:760613381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012174", "name": "Peripheral cone dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral cone dystrophy"], "xref": ["MEDGEN:323031", "MESH:C563813", "OMIM:609021", "UMLS:C1836946"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 6p12-q12.", "id": "MONDO:0012175", "name": "Cataract 28", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ARCC1", "CTRCT28", "cataract 28", "cataract 28, age-related cortical, susceptibility to", "cataract type 28"], "xref": ["DOID:0110244", "MEDGEN:373214", "MESH:C563812", "OMIM:609026", "UMLS:C1836942"]}
{"category": ["biolink:Disease"], "description": "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.", "id": "MONDO:0012176", "name": "Emanuel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["22) syndrome", "Der(22)t(11", "Emanuel syndrome", "supernumerary der(22) syndrome"], "xref": ["GARD:0009835", "ICD9:758.5", "MEDGEN:323030", "MESH:C535733", "NANDO:1200689", "OMIM:609029", "Orphanet:96170", "SCTID:702417004", "UMLS:C1836929"]}
{"category": ["biolink:Disease"], "description": "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.", "id": "MONDO:0012177", "name": "Posterior column ataxia-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCARP", "ataxia, posterior column, with retinitis pigmentosa", "autosomal recessive posterior column ataxia and retinitis pigmentosa"], "xref": ["DOID:0061157", "GARD:0009898", "MEDGEN:324636", "MESH:C536343", "OMIM:609033", "Orphanet:88628", "SCTID:724065003", "UMLS:C1836916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012178", "name": "Intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature"], "xref": ["MEDGEN:324635", "MESH:C563810", "OMIM:609037", "UMLS:C1836915"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal dominant form of narcolepsy mapped to chromosome 21q, between genetic markers D21S267 and ABCG1. 6 patients with the milder form were DQB1*0602-positive.", "id": "MONDO:0012179", "name": "Narcolepsy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NRCLP3", "narcolepsy 3"], "xref": ["GARD:0015447", "MEDGEN:332320", "OMIM:609039", "UMLS:C1836907"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.", "id": "MONDO:0012180", "name": "Arrhythmogenic right ventricular dysplasia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC9", "ARVD9", "PKP2 familial isolated arrhythmogenic right ventricular dysplasia", "arrhythmogenic right ventricular cardiomyopathy 9", "arrhythmogenic right ventricular dysplasia 9", "arrhythmogenic right ventricular dysplasia type 9", "arrhythmogenic right ventricular dysplasia, familial, type 9", "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2"], "xref": ["DOID:0110077", "GARD:0024852", "MEDGEN:373205", "MESH:C563808", "OMIM:609040", "UMLS:C1836906"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.", "id": "MONDO:0012181", "name": "Hereditary spastic paraplegia 27", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG27", "autosomal recessive spastic paraplegia type 27", "hereditary spastic paraplegia type 27"], "xref": ["DOID:0110778", "GARD:0016940", "MEDGEN:373203", "MESH:C563807", "OMIM:609041", "Orphanet:101007", "UMLS:C1836899"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012182", "name": "Skeletal dysplasia, rhizomelic, with retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skeletal dysplasia, rhizomelic, with retinitis pigmentosa"], "xref": ["MEDGEN:332318", "MESH:C563806", "OMIM:609047", "UMLS:C1836898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012183", "name": "Melanoma, cutaneous malignant, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["melanoma, cutaneous malignant, 3", "melanoma, cutaneous malignant, susceptibility to, 3", "melanoma, cutaneous malignant, susceptibility to, type 3"], "xref": ["GARD:0027812", "MEDGEN:373202", "OMIM:609048", "UMLS:C1836892"]}
{"category": ["biolink:Disease"], "description": "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.", "id": "MONDO:0012184", "name": "Pierson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pierson syndrome", "microcoria-congenital nephrosis syndrome"], "xref": ["DOID:0060852", "GARD:0009420", "MEDGEN:373199", "MESH:C537185", "NANDO:2200117", "NCIT:C128145", "OMIM:609049", "Orphanet:2670", "SCTID:723449004", "UMLS:C1836876", "icd11.foundation:555082533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012185", "name": "Spondylometaphyseal dysplasia, a4 type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112301", "GARD:0000458", "MEDGEN:324620", "MESH:C563803", "OMIM:609052", "Orphanet:168555", "UMLS:C1836862", "icd11.foundation:696316924"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.", "id": "MONDO:0012186", "name": "Fanconi anemia complementation group i", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FANCI", "Fanconi Anemia, complementation group type 1", "Fanconi anaemia complementation group type I", "Fanconi anemia complementation group I", "Fanconi anemia complementation group type I"], "xref": ["DOID:0111091", "GARD:0015448", "MEDGEN:323016", "MESH:C563802", "NCIT:C129026", "OMIM:609053", "UMLS:C1836861"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.", "id": "MONDO:0012187", "name": "Fanconi anemia complementation group j", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FANCJ", "Fanconi Anemia, complementation group type J", "Fanconi anaemia complementation group type J", "Fanconi anemia complementation group J", "Fanconi anemia complementation group type J"], "xref": ["DOID:0111097", "GARD:0015449", "MEDGEN:323015", "MESH:C563801", "NCIT:C129027", "OMIM:609054", "UMLS:C1836860"]}
{"category": ["biolink:Disease"], "description": "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "id": "MONDO:0012188", "name": "Neuronal ceroid lipofuscinosis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["CLN9", "neuronal ceroid lipofuscinosis type 9"], "xref": ["DOID:0110733", "GARD:0006618", "MEDGEN:332304", "MESH:C537953", "OMIM:609055", "Orphanet:228357", "UMLS:C1836841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012190", "name": "Epidermolysis bullosa simplex 7, with nephropathy and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermolysis bullosa simplex 7, with nephropathy and deafness", "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome", "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome"], "xref": ["GARD:0017367", "MEDGEN:323004", "MESH:C563798", "OMIM:609057", "Orphanet:300333", "UMLS:C1836823"]}
{"category": ["biolink:Disease"], "description": "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.", "id": "MONDO:0012191", "name": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GFM1 combined oxidative phosphorylation deficiency", "Hepatoencephalopathy due to COXPD1", "combined oxidative phosphorylation deficiency caused by mutation in GFM1", "combined oxidative phosphorylation deficiency type 1", "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"], "xref": ["DOID:0111474", "GARD:0016949", "MEDGEN:322999", "MESH:C563797", "NCIT:C125663", "OMIM:609060", "Orphanet:137681", "SCTID:764962002", "UMLS:C1836797"]}
{"category": ["biolink:Disease"], "description": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.", "id": "MONDO:0012192", "name": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pancreatic and cerebellar agenesis"], "xref": ["GARD:0016670", "MEDGEN:332288", "MESH:C563796", "OMIM:609069", "Orphanet:65288", "UMLS:C1836780"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.", "id": "MONDO:0012193", "name": "Autosomal dominant limb-girdle muscular dystrophy type 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HNRNPDL autosomal dominant limb-girdle muscular dystrophy", "LGMD1G", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL", "muscular dystrophy, limb-girdle, autosomal dominant 3"], "xref": ["DOID:0110306", "GARD:0012531", "MEDGEN:322993", "MESH:C563794", "OMIM:609115", "Orphanet:55596", "SCTID:719990003", "UMLS:C1836765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012194", "name": "Aneurysm, intracranial berry, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB3"], "xref": ["DOID:0080966", "GARD:0018322", "MEDGEN:332280", "MESH:C563792", "OMIM:609122", "UMLS:C1836757"]}
{"category": ["biolink:Disease"], "description": "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.", "id": "MONDO:0012195", "name": "Arthrogryposis-severe scoliosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal arthrogryposis type 4", "distal arthrogryposis type IID"], "xref": ["DOID:0111610", "GARD:0016672", "MEDGEN:373169", "MESH:C563791", "OMIM:609128", "Orphanet:65720", "SCTID:715575001", "UMLS:C1836756"]}
{"category": ["biolink:Disease"], "description": "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.", "id": "MONDO:0012196", "name": "Autosomal dominant auditory neuropathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AUNA1", "DIAPH3 auditory neuropathy", "NSDAN", "auditory neuropathy caused by mutation in DIAPH3", "auditory neuropathy, autosomal dominant, type 1", "autosomal dominant auditory neuropathy type 1"], "xref": ["DOID:0060690", "GARD:0018127", "MEDGEN:322984", "MESH:C563790", "OMIM:609129", "UMLS:C1836743"]}
{"category": ["biolink:Disease"], "description": "Aplastic anemia without a known cause.", "id": "MONDO:0012197", "name": "Idiopathic aplastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["idiopathic aplastic aplasia", "idiopathic bone marrow failure"], "xref": ["GARD:0005836", "ICD10CM:D61.3", "MEDGEN:87595", "MESH:C538494", "NANDO:1200296", "NANDO:2201276", "NCIT:C61230", "Orphanet:88", "SCTID:191256002", "UMLS:C0348890", "icd11.foundation:1615519452"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.", "id": "MONDO:0012198", "name": "Pcwh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCWH", "WS4 plus", "neurologic Waardenburg-Shah syndrome", "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease"], "xref": ["DOID:0090111", "GARD:0017004", "MEDGEN:373160", "MESH:C563789", "NANDO:1200586", "NANDO:2201298", "OMIM:609136", "Orphanet:163746", "UMLS:C1836727"]}
{"category": ["biolink:Disease"], "description": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.", "id": "MONDO:0012199", "name": "Posterior polymorphous corneal dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL8A2 posterior polymorphous corneal dystrophy", "PPCD2", "Ppcd2", "corneal dystrophy, posterior polymorphous 2", "corneal dystrophy, posterior polymorphous, type 2", "posterior polymorphous corneal dystrophy caused by mutation in COL8A2", "posterior polymorphous corneal dystrophy type 2"], "xref": ["DOID:0110856", "GARD:0018213", "MEDGEN:377757", "MESH:C565176", "OMIM:609140", "UMLS:C1852795"]}
{"category": ["biolink:Disease"], "description": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.", "id": "MONDO:0012200", "name": "Posterior polymorphous corneal dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PPCD3", "Ppcd3", "ZEB1 posterior polymorphous corneal dystrophy", "corneal dystrophy, posterior polymorphous, type 3", "posterior polymorphous corneal dystrophy caused by mutation in ZEB1", "posterior polymorphous corneal dystrophy type 3"], "xref": ["DOID:0110857", "GARD:0018214", "MEDGEN:322978", "MESH:C563788", "OMIM:609141", "UMLS:C1836724"]}
{"category": ["biolink:Disease"], "description": "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.", "id": "MONDO:0012203", "name": "Familial hyperthyroidism due to mutations in tsh receptor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial non-immune hyperthyroidism", "resistance to thyroid stimulating hormone"], "xref": ["DOID:0081101", "GARD:0002858", "MEDGEN:373154", "MESH:C563786", "OMIM:609152", "Orphanet:424", "UMLS:C1836706"]}
{"category": ["biolink:Disease"], "description": "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.", "id": "MONDO:0012204", "name": "Familial pseudohyperkalemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PSHK2", "pseudohyperkalemia, familial, 2, due to red cell leak"], "xref": ["GARD:0016785", "MEDGEN:324588", "MESH:C563785", "OMIM:609153", "Orphanet:90044", "SCTID:717254007", "UMLS:C1836705", "icd11.foundation:1653996588"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.", "id": "MONDO:0012205", "name": "Autosomal dominant striatal neurodegeneration type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADSD1", "PDE8B striatal degeneration, autosomal dominant", "striatal Degeneration, autosomal dominant 1", "striatal degeneration, autosomal dominant 1", "striatal degeneration, autosomal dominant caused by mutation in PDE8B"], "xref": ["GARD:0024853", "MEDGEN:934775", "OMIM:609161", "SCTID:725392005", "UMLS:C4310808"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.", "id": "MONDO:0012206", "name": "Spondyloepiphyseal dysplasia with metatarsal shortening", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Czech dysplasia", "Czech dysplasia metatarsal type", "Czech dysplasia, metatarsal type", "SED with metatarsal shortening", "pseudorheumatoid dysplasia, progressive, with hypoplastic toes", "spondyloepiphyseal dysplasia with precocious osteoarthritis"], "xref": ["GARD:0010220", "MEDGEN:324580", "MESH:C535766", "NANDO:2201353", "OMIM:609162", "Orphanet:137678", "SCTID:720826006", "UMLS:C1836683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012207", "name": "Umbilicus, familial flat", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["umbilicus, familial flat"], "xref": ["MEDGEN:332265", "MESH:C537059", "OMIM:609164", "UMLS:C1836682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012208", "name": "Congenital reticular ichthyosiform erythroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRIE", "IWC", "ichthyosis variegata", "ichthyosis with confetti"], "xref": ["GARD:0017305", "MEDGEN:777141", "MESH:C563781", "OMIM:609165", "Orphanet:281190", "SCTID:703504006", "UMLS:C3665704", "icd11.foundation:565254051"]}
{"category": ["biolink:Disease"], "description": "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.", "id": "MONDO:0012209", "name": "Branchiogenic deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MC)garbanC)-Loiselet syndrome", "Mégarbané-Loiselet syndrome"], "xref": ["GARD:0016648", "MEDGEN:322970", "MESH:C563780", "OMIM:609166", "Orphanet:50815", "SCTID:717944002", "UMLS:C1836673"]}
{"category": ["biolink:Disease"], "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.", "id": "MONDO:0012211", "name": "Mpdu1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type If", "CDG-If", "CDG1F", "CDGIf", "MPDU1-CDG", "carbohydrate deficient glycoprotein syndrome type If", "congenital disorder of glycosylation type 1f", "congenital disorder of glycosylation type If"], "xref": ["DOID:0080558", "GARD:0009832", "MEDGEN:322968", "MESH:C535744", "NCIT:C126872", "OMIM:609180", "Orphanet:79323", "SCTID:724096007", "UMLS:C1836669"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.", "id": "MONDO:0012212", "name": "Loeys-dietz syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["Furlong syndrome", "Loeys-Dietz syndrome 1", "Loeys-Dietz syndrome caused by mutation in TGFBR1", "Loeys-Dietz syndrome type 1", "TGFBR1 Loeys-Dietz syndrome"], "xref": ["DOID:0070235", "GARD:0009458", "MEDGEN:1646567", "NCIT:C75119", "OMIM:609192", "Orphanet:97295", "UMLS:C4551955"]}
{"category": ["biolink:Disease"], "description": "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.", "id": "MONDO:0012213", "name": "Hereditary spastic paraplegia 26", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GM2 synthase deficiency", "SPG26", "autosomal recessive spastic paraplegia type 26", "hereditary spastic paraplegia type 26"], "xref": ["DOID:0110777", "GARD:0009587", "MEDGEN:373138", "MESH:C536862", "OMIM:609195", "Orphanet:101006", "SCTID:726607007", "UMLS:C1836632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012214", "name": "Glucocorticoid deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GCCD3", "glucocorticoid deficiency 3"], "xref": ["GARD:0015450", "MEDGEN:332252", "MESH:C563776", "OMIM:609197", "UMLS:C1836621"]}
{"category": ["biolink:Disease"], "description": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.", "id": "MONDO:0012215", "name": "Myofibrillar myopathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD1A", "MYOT autosomal dominant distal myopathy", "MYOT autosomal dominant limb-girdle muscular dystrophy", "MYOT-related myofibrillar myopathy", "autosomal dominant distal myopathy caused by mutation in MYOT", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT", "autosomal dominant limb-girdle muscular dystrophy type 1A", "distal myotilinopathy", "myofibrillar myopathy type 3", "myopathy, myofibrillar, type 3", "myotilinopathy", "spheroid body myopathy"], "xref": ["DOID:0080094", "DOID:0110300", "GARD:0016871", "MEDGEN:811509", "MESH:C000598645", "MESH:C535906", "MESH:C563775", "OMIM:159000", "OMIM:182920", "OMIM:609200", "Orphanet:266", "Orphanet:268129", "Orphanet:98911", "SCTID:719985001", "SCTID:765092004", "SCTID:765196004", "UMLS:C3714934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012216", "name": "Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHONDA syndrome", "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis", "foveal hypoplasia type 2"], "xref": ["DOID:0070531", "GARD:0017632", "MEDGEN:814203", "MESH:C563774", "OMIM:609218", "Orphanet:397618", "UMLS:C3807873"]}
{"category": ["biolink:Disease"], "description": "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.", "id": "MONDO:0012217", "name": "Bruck syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Bruck syndrome 2", "Bruck syndrome caused by mutation in PLOD2", "Bruck syndrome type 2", "PLOD2 Bruck syndrome"], "xref": ["GARD:0010023", "MEDGEN:373129", "MESH:C537407", "OMIM:609220", "UMLS:C1836602"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012218", "name": "Dandy-walker malformation with occipital cephalocele, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADDWOC"], "xref": ["MEDGEN:393273", "MESH:C567185", "OMIM:609222", "UMLS:C2674987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012219", "name": "Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type"], "xref": ["DOID:0112291", "GARD:0024854", "MEDGEN:373126", "MESH:C563772", "OMIM:609223", "UMLS:C1836584"]}
{"category": ["biolink:Disease"], "description": "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.", "id": "MONDO:0012220", "name": "Griscelli syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GS3", "Griscelli syndrome type 3", "Griscelli-PruniC)ras syndrome type 3", "Griscelli-Pruniéras syndrome type 3", "Griscelli-Pruni��ras syndrome type 3"], "xref": ["DOID:0060834", "GARD:0009715", "MEDGEN:373124", "MESH:C537303", "OMIM:609227", "Orphanet:79478", "UMLS:C1836573", "icd11.foundation:1959052636"]}
{"category": ["biolink:Disease"], "description": "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.", "id": "MONDO:0012221", "name": "Alpha-n-acetylgalactosaminidase deficiency type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["NAGA deficiency type 1", "Schindler disease type 1", "Schindler disease, type III"], "xref": ["DOID:0112318", "GARD:0000116", "MEDGEN:373113", "NANDO:1200135", "OMIM:609241", "Orphanet:79279", "SCTID:879937000", "UMLS:C1836544", "icd11.foundation:1058486825"]}
{"category": ["biolink:Disease"], "description": "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.", "id": "MONDO:0012222", "name": "Alpha-n-acetylgalactosaminidase deficiency type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Kanzaki disease", "NAGA deficiency type 2", "Schindler disease type 2", "adult-onset Alpha-N-acetylgalactosaminidase deficiency"], "xref": ["DOID:0112319", "GARD:0009161", "MEDGEN:324539", "NANDO:1200136", "OMIM:609242", "Orphanet:79280", "SCTID:880065001", "UMLS:C1836522", "icd11.foundation:266505438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012223", "name": "Hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate"], "xref": ["MEDGEN:324538", "MESH:C563765", "OMIM:609250", "UMLS:C1836521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012224", "name": "Febrile seizures, familial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB6", "febrile seizures, familial, 6"], "xref": ["DOID:0111309", "MEDGEN:373107", "MESH:C563764", "OMIM:609253", "UMLS:C1836518"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.", "id": "MONDO:0012225", "name": "Senior-loken syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IQCB1 Senior-Loken syndrome", "Senior-Loken syndrome 5", "Senior-Loken syndrome caused by mutation in IQCB1", "Senior-Loken syndrome type 5"], "xref": ["DOID:0061279", "GARD:0015451", "MEDGEN:332226", "MESH:C563763", "OMIM:609254", "UMLS:C1836517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012226", "name": "Febrile seizures, familial, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB5", "febrile seizures, familial, 5"], "xref": ["DOID:0111306", "MEDGEN:322934", "MESH:C563762", "OMIM:609255", "UMLS:C1836507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012227", "name": "Myopia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP7", "myopia 7"], "xref": ["MEDGEN:373105", "MESH:C563761", "OMIM:609256", "UMLS:C1836506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012228", "name": "Myopia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP8", "myopia 8"], "xref": ["MEDGEN:332223", "MESH:C563760", "OMIM:609257", "UMLS:C1836505"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012229", "name": "Myopia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP9", "myopia 9"], "xref": ["MEDGEN:332222", "MESH:C563759", "OMIM:609258", "UMLS:C1836504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012230", "name": "Myopia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP10", "myopia 10"], "xref": ["MEDGEN:373104", "MESH:C563758", "OMIM:609259", "UMLS:C1836503"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.", "id": "MONDO:0012231", "name": "Charcot-marie-tooth disease type 2a2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2A2", "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2", "Charcot-Marie-Tooth disease type 2A2A", "Charcot-Marie-Tooth disease, axonal, type 2A2A", "HMSN IIA2", "HMSN2A2", "MFN2 Charcot-Marie-Tooth disease type 2", "hereditary motor and sensory neuropathy IIA2"], "xref": ["DOID:0110155", "GARD:0016925", "MEDGEN:1648317", "MESH:C563757", "NCIT:C150646", "OMIM:609260", "Orphanet:99947", "SCTID:764850002", "UMLS:C4721887", "icd11.foundation:1274363794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012232", "name": "Stuttering, familial persistent, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["STUT2", "stuttering, familial persistent, 2"], "xref": ["MEDGEN:332218", "MESH:C563756", "OMIM:609261", "UMLS:C1836484"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.", "id": "MONDO:0012235", "name": "Autosomal recessive spinocerebellar ataxia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR7", "autosomal recessive spinocerebellar ataxia type 7", "spinocerebellar ataxia, autosomal recessive type 7"], "xref": ["DOID:0080059", "GARD:0012232", "MEDGEN:324520", "MESH:C563753", "OMIM:609270", "Orphanet:284324", "UMLS:C1836474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012236", "name": "Keratoconus 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KTCN4", "keratoconus 4"], "xref": ["GARD:0024855", "MEDGEN:332217", "MESH:C563752", "OMIM:609271", "UMLS:C1836473"]}
{"category": ["biolink:Disease"], "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.", "id": "MONDO:0012237", "name": "Nemaline myopathy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["KBTBD13 nemaline myopathy", "nemaline myopathy 6", "nemaline myopathy caused by mutation in KBTBD13", "nemaline myopathy type 6"], "xref": ["DOID:0110935", "GARD:0015452", "MEDGEN:373095", "MESH:C538398", "OMIM:609273", "UMLS:C1836472"]}
{"category": ["biolink:Disease"], "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.", "id": "MONDO:0012238", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions", "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2"], "xref": ["DOID:0111517", "GARD:0016498", "MEDGEN:322925", "MESH:C563750", "OMIM:609283", "UMLS:C1836460"]}
{"category": ["biolink:Disease"], "description": "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.", "id": "MONDO:0012239", "name": "Congenital myopathy 4b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TPM3 nemaline myopathy", "nemaline myopathy caused by mutation in TPM3"], "xref": ["DOID:0110926", "GARD:0015453", "MEDGEN:1840525", "MESH:C538348", "OMIM:609284", "UMLS:C5829889"]}
{"category": ["biolink:Disease"], "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.", "id": "MONDO:0012240", "name": "Congenital myopathy 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CAPM2", "NEM4", "TPM2 nemaline myopathy", "nemaline myopathy 4", "nemaline myopathy caused by mutation in TPM2", "nemaline myopathy type 4"], "xref": ["DOID:0110932", "GARD:0015454", "MEDGEN:324513", "MESH:C538351", "NCIT:C164225", "OMIM:609285", "UMLS:C1836447"]}
{"category": ["biolink:Disease"], "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.", "id": "MONDO:0012241", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions", "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3"], "xref": ["DOID:0111520", "GARD:0016499", "MEDGEN:373087", "MESH:C563747", "OMIM:609286", "UMLS:C1836439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012242", "name": "Syncope, familial vasovagal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["VVS"], "xref": ["GARD:0009502", "MEDGEN:373086", "MESH:C536849", "OMIM:609289", "UMLS:C1836438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012243", "name": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome", "BILU syndrome", "Hoffman syndrome"], "xref": ["GARD:0027054", "MEDGEN:332208", "MESH:C563745", "OMIM:609296", "Orphanet:567502", "UMLS:C1836437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012244", "name": "Prostate cancer, hereditary, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 5", "prostate cancer, hereditary, type 5"], "xref": ["GARD:0015455", "MEDGEN:373085", "MESH:C563744", "OMIM:609299", "UMLS:C1836436"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.", "id": "MONDO:0012245", "name": "Developmental and epileptic encephalopathy, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE3", "EIEE3", "SLC25A22 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 3", "early infantile epileptic encephalopathy caused by mutation in SLC25A22", "epileptic encephalopathy, early infantile, 3", "epileptic encephalopathy, early infantile, type 3"], "xref": ["DOID:0080440", "GARD:0015456", "MEDGEN:1801135", "OMIM:609304", "UMLS:C5574665"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.", "id": "MONDO:0012246", "name": "Spinocerebellar ataxia type 26", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA26", "spinocerebellar ataxia type 26"], "xref": ["DOID:0050975", "GARD:0009995", "MEDGEN:373077", "MESH:C537203", "OMIM:609306", "Orphanet:101112", "SCTID:718769009", "UMLS:C1836395", "icd11.foundation:586976339"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.", "id": "MONDO:0012247", "name": "Spinocerebellar ataxia type 27", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA27", "spinocerebellar ataxia type 27"], "xref": ["DOID:0050976", "GARD:0009963", "MEDGEN:373075", "MESH:C537204", "OMIM:609307", "Orphanet:98764", "SCTID:719252002", "UMLS:C1836383", "icd11.foundation:1408059647"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.", "id": "MONDO:0012248", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2k", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD-POMT1 related", "LGMD2K", "MDDGC1", "POMT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "limb-girdle muscular dystrophy-intellectual disability syndrome", "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1"], "xref": ["DOID:0110297", "GARD:0012535", "MEDGEN:332193", "NCIT:C133730", "OMIM:609308", "Orphanet:86812", "SCTID:720523006", "UMLS:C1836373"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occurring at younger ages.", "id": "MONDO:0012249", "name": "Lynch syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Hereditary non-polyposis colon cancer type 2", "Hereditary nonpolyposis colorectal cancer type 2", "Lynch 2 syndrome", "MLH1-related Lynch syndrome", "colorectal cancer, hereditary nonpolyposis, type 2", "familial non-polyposis colon cancer type 2"], "xref": ["DOID:0070274", "GARD:0015457", "MEDGEN:232603", "MESH:D055847", "NCIT:C6726", "OMIM:609310", "UMLS:C1333991"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy", "id": "MONDO:0012250", "name": "Charcot-marie-tooth disease type 4h", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4H", "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4", "Charcot-Marie-Tooth disease type 4H", "FGD4 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110192", "GARD:0012442", "MEDGEN:324487", "MESH:C563740", "OMIM:609311", "Orphanet:99954", "SCTID:715802008", "UMLS:C1836336", "icd11.foundation:214411126"]}
{"category": ["biolink:Disease"], "description": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).", "id": "MONDO:0012251", "name": "Mednik syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["erythrokeratodermia variabilis 3", "erythrokeratodermia variabilis, Kamouraska type", "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome"], "xref": ["DOID:0060483", "GARD:0017072", "MEDGEN:322893", "MESH:C563739", "OMIM:609313", "Orphanet:171851", "SCTID:722035007", "UMLS:C1836330"]}
{"category": ["biolink:Disease"], "description": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.", "id": "MONDO:0012252", "name": "Rhabdoid tumor predisposition syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["SMARCB1 familial rhabdoid tumor", "SMARCB1 familial rhabdoid tumour", "familial rhabdoid tumor caused by mutation in SMARCB1", "familial rhabdoid tumour caused by mutation in SMARCB1", "rhabdoid tumor predisposition syndrome 1", "rhabdoid tumor predisposition syndrome type 1", "rhabdoid tumors, somatic", "rhabdoid tumour predisposition syndrome type 1"], "xref": ["DOID:0070618", "GARD:0018318", "MEDGEN:322892", "MESH:C563738", "NCIT:C178393", "OMIM:609322", "UMLS:C1836327"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.", "id": "MONDO:0012253", "name": "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017015", "MEDGEN:324484", "MESH:C563736", "OMIM:609324", "Orphanet:166029", "UMLS:C1836315"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.", "id": "MONDO:0012254", "name": "Multiple epiphyseal dysplasia, with miniepiphyses", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017016", "MEDGEN:332176", "MESH:C563735", "OMIM:609325", "Orphanet:166032", "UMLS:C1836307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012255", "name": "Chromosome 18 pericentric inversion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 18 pericentric inversion"], "xref": ["GARD:0024856", "MEDGEN:322886", "MESH:C563734", "OMIM:609334", "UMLS:C1836305"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.", "id": "MONDO:0012256", "name": "Hereditary spastic paraplegia 28", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DDHD1 autosomal recessive pure spastic paraplegia", "SPG28", "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1", "autosomal recessive spastic paraplegia type 28", "hereditary spastic paraplegia 28", "hereditary spastic paraplegia type 28"], "xref": ["DOID:0110779", "GARD:0016941", "MEDGEN:332174", "MESH:C563732", "OMIM:609340", "Orphanet:101008", "SCTID:763376002", "UMLS:C1836295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012257", "name": "Cerebrorenodigital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0015458", "MEDGEN:373053", "MESH:C563731", "OMIM:609345", "Orphanet:1396", "UMLS:C1836287"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.", "id": "MONDO:0012258", "name": "Epidermolysis bullosa simplex 2e, with migratory circinate erythema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS-migr", "epidermolysis bullosa simplex 2E, with migratory circinate erythema", "epidermolysis bullosa simplex with migratory circinate erythema"], "xref": ["GARD:0016990", "MEDGEN:324475", "MESH:C563730", "OMIM:609352", "Orphanet:158681", "SCTID:716700003", "UMLS:C1836284"]}
{"category": ["biolink:Disease"], "description": "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.", "id": "MONDO:0012259", "name": "Colloid cysts of third ventricle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colloid cysts of third ventricle"], "xref": ["MEDGEN:82744", "MESH:C535966", "OMIM:609363", "UMLS:C0266481"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 19q13.", "id": "MONDO:0012260", "name": "Cataract 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CATCN1", "CTRCT35", "cataract 35", "cataract type 35"], "xref": ["DOID:0110261", "GARD:0009492", "MEDGEN:373050", "MESH:C563728", "OMIM:609376", "UMLS:C1836272"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012262", "name": "Fibrosis of extraocular muscles, congenital, 3c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CFEOM3C"], "xref": ["DOID:0081019", "GARD:0015459", "MEDGEN:412956", "MESH:C567666", "OMIM:609384", "UMLS:C2750404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012264", "name": "Preeclampsia/eclampsia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PEE2"], "xref": ["GARD:0018390", "MEDGEN:322876", "OMIM:609402", "UMLS:C1836257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012265", "name": "Preeclampsia/eclampsia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PEE3"], "xref": ["GARD:0018391", "MEDGEN:322875", "OMIM:609403", "UMLS:C1836256"]}
{"category": ["biolink:Disease"], "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.", "id": "MONDO:0012266", "name": "Preeclampsia/eclampsia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Preeclampsia/eclampsia type 4", "STOX1 preeclampsia", "preeclampsia caused by mutation in STOX1", "preeclampsia/eclampsia 4"], "xref": ["GARD:0018392", "MEDGEN:322874", "MESH:C563724", "OMIM:609404", "UMLS:C1836255"]}
{"category": ["biolink:Disease"], "description": "A holoprosencephaly that has material basis in variation in the chromosome region 14q13.", "id": "MONDO:0012267", "name": "Holoprosencephaly 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE8", "holoprosencephaly 8", "holoprosencephaly type 8"], "xref": ["DOID:0110879", "GARD:0024857", "MEDGEN:322873", "MESH:C563723", "OMIM:609408", "UMLS:C1836254"]}
{"category": ["biolink:Disease"], "description": "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.", "id": "MONDO:0012268", "name": "Aids", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AIDS", "AIDS, acquired immunodeficiency syndrome", "acquired immune deficiency", "acquired immunodeficiency disease", "acquired immunodeficiency syndrome, AIDS"], "xref": ["DOID:635", "EFO:0000765", "MEDGEN:99", "MESH:D000163", "NANDO:2100212", "NANDO:2200809", "NCIT:C2851", "SCTID:62479008", "UMLS:C0001175"]}
{"category": ["biolink:Disease"], "description": "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.", "id": "MONDO:0012269", "name": "Chromosome 3q29 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3q subtelomere deletion syndrome", "3q29 microdeletion syndrome", "3qter deletion", "Del(3)(q29)", "chromosome 3q29 microdeletion syndrome, isolated cases", "monosomy 3q29", "monosomy 3qter"], "xref": ["DECIPHER:37", "DOID:0060419", "GARD:0011974", "MEDGEN:393265", "MESH:C567184", "OMIM:609425", "Orphanet:65286", "SCTID:716456000", "UMLS:C2674949"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012270", "name": "Tukel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Tukel syndrome"], "xref": ["DOID:0081021", "GARD:0009814", "MEDGEN:332153", "MESH:C536925", "OMIM:609428", "UMLS:C1836217", "icd11.foundation:2132105652"]}
{"category": ["biolink:Disease"], "description": "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.", "id": "MONDO:0012271", "name": "Mesoaxial synostotic syndactyly with phalangeal reduction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSSD", "syndactyly type 9", "syndactyly, Malik-Percin type"], "xref": ["GARD:0010590", "MEDGEN:324459", "MESH:C563721", "OMIM:609432", "Orphanet:157801", "SCTID:724170007", "UMLS:C1836206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012272", "name": "Intellectual disability, keratoconus, febrile seizures, and sinoatrial block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intellectual disability, keratoconus, febrile seizures, and sinoatrial block"], "xref": ["MEDGEN:324455", "MESH:C537452", "OMIM:609438", "UMLS:C1836202"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.", "id": "MONDO:0012273", "name": "Autosomal recessive nonsyndromic hearing loss 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1J", "Usher syndrome type 1J", "autosomal recessive nonsyndromic hearing loss 48"], "xref": ["DOID:0110505", "DOID:0110836", "GARD:0022612", "MEDGEN:332149", "MESH:C563720", "OMIM:609439", "OMIM:614869", "UMLS:C1836199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012274", "name": "Acromesomelic dysplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMDD", "acromesomelic dysplasia 3", "acromesomelic dysplasia, Demirhan type", "chondrodysplasia, acromesomelic, with or without genital anomalies"], "xref": ["DOID:0081237", "GARD:0010077", "MEDGEN:904735", "MESH:C537913", "OMIM:609441", "UMLS:C4225404"]}
{"category": ["biolink:Disease"], "description": "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).", "id": "MONDO:0012275", "name": "Fetal valproate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fetal valproate syndrome", "fetal valproic acid syndrome"], "xref": ["DOID:0060471", "ICD9:759.89", "MEDGEN:65922", "MESH:C536525", "MedDRA:10016524", "NCIT:C98930", "NORD:1141", "OMIM:609442", "Orphanet:1906", "SCTID:17231009", "UMLS:C0236026", "icd11.foundation:1055155432"]}
{"category": ["biolink:Disease"], "description": "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.", "id": "MONDO:0012276", "name": "Generalized epilepsy-paroxysmal dyskinesia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GEPD"], "xref": ["DOID:0070442", "GARD:0016704", "MEDGEN:1801137", "MESH:C563719", "OMIM:609446", "Orphanet:79137", "UMLS:C5574945"]}
{"category": ["biolink:Disease"], "description": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.", "id": "MONDO:0012277", "name": "Myofibrillar myopathy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LDB3 myofibrillar myopathy (disease)", "LDB3-related myofibrillar myopathy", "ZASP-related myofibrillar myopathy", "myofibrillar myopathy (disease) caused by mutation in LDB3", "myofibrillar myopathy type 4", "myopathy, myofibrillar, type 4"], "xref": ["DOID:0080095", "GARD:0001886", "MEDGEN:1648314", "MESH:C563718", "OMIM:609452", "Orphanet:98912", "UMLS:C4721886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012278", "name": "Supranuclear palsy, progressive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PSNP2", "supranuclear palsy, progressive, 2"], "xref": ["GARD:0018344", "MEDGEN:324446", "MESH:C563717", "OMIM:609454", "UMLS:C1836148"]}
{"category": ["biolink:Disease"], "description": "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.", "id": "MONDO:0012280", "name": "Goldberg-shprintzen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GOSHS", "Goldberg-Shprintzen megacolon syndrome", "Goldberg-Shprintzen syndrome", "megacolon-microcephaly syndrome"], "xref": ["DOID:0060481", "GARD:0009849", "MEDGEN:332131", "MESH:C537279", "OMIM:609460", "Orphanet:66629", "SCTID:717822006", "UMLS:C1836123", "icd11.foundation:1750921468"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.", "id": "MONDO:0012282", "name": "Al-gazali syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Al-Gazali syndrome"], "xref": ["GARD:0010054", "MEDGEN:373020", "MESH:C536817", "OMIM:609465", "Orphanet:2725", "UMLS:C1836121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012283", "name": "Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss"], "xref": ["MEDGEN:324442", "MESH:C536427", "OMIM:609466", "UMLS:C1836120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012284", "name": "Nephropathy, progressive, with deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nephropathy, progressive, with deafness"], "xref": ["MEDGEN:322828", "MESH:C563713", "OMIM:609469", "UMLS:C1836119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012285", "name": "Left ventricular noncompaction 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LVNC2", "left ventricular noncompaction 2"], "xref": ["GARD:0015460", "MEDGEN:322827", "OMIM:609470", "UMLS:C1836118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012286", "name": "Myopathy, autophagic vacuolar, infantile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, autophagic vacuolar, infantile-onset"], "xref": ["GARD:0024858", "MEDGEN:419364", "OMIM:609500", "UMLS:C2931230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012287", "name": "Stickler syndrome, type i, nonsyndromic ocular", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Stickler syndrome, type i, nonsyndromic ocular"], "xref": ["GARD:0015461", "MEDGEN:322820", "MESH:C563709", "OMIM:609508", "UMLS:C1836080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012288", "name": "Iridogoniodysgenesis and skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iridogoniodysgenesis and skeletal anomalies"], "xref": ["MEDGEN:373009", "MESH:C535534", "OMIM:609515", "UMLS:C1836074"]}
{"category": ["biolink:Disease"], "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.", "id": "MONDO:0012289", "name": "Myofibrillar myopathy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FLNC myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in FLNC", "myofibrillar myopathy 5", "myofibrillar myopathy type 5", "myopathy, myofibrillar, type 5"], "xref": ["DOID:0080096", "GARD:0017062", "MEDGEN:372186", "MESH:C537932", "OMIM:609524", "Orphanet:171445", "UMLS:C1836050"]}
{"category": ["biolink:Disease"], "description": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.", "id": "MONDO:0012290", "name": "Cednik syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CEDNIK syndrome", "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"], "xref": ["DOID:0060337", "GARD:0009940", "MEDGEN:332113", "MESH:C537943", "OMIM:609528", "Orphanet:66631", "SCTID:722385008", "UMLS:C1836033"]}
{"category": ["biolink:Disease"], "description": "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.", "id": "MONDO:0012291", "name": "Immunoglobulin a deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Immunoglobulin a deficiency type 2", "TNFRSF13B selective IgA deficiency disease", "immunoglobulin a deficiency 2", "selective IgA deficiency disease caused by mutation in TNFRSF13B"], "xref": ["GARD:0010198", "MEDGEN:372182", "MESH:C536291", "OMIM:609529", "UMLS:C1836032"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.", "id": "MONDO:0012293", "name": "Autosomal recessive nonsyndromic hearing loss 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110481", "GARD:0022613", "MEDGEN:332110", "MESH:C563705", "OMIM:609533", "UMLS:C1836027"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.", "id": "MONDO:0012295", "name": "Complement component 5 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C5 complement deficiency", "C5 deficiency", "complement component 5 deficiency", "complement deficiency caused by mutation in C5"], "xref": ["DOID:8158", "GARD:0002191", "MEDGEN:91003", "NANDO:2200783", "NCIT:C9469", "OMIM:609536", "UMLS:C0343047"]}
{"category": ["biolink:Disease"], "description": "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.", "id": "MONDO:0012296", "name": "Lipomyelomeningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["lipomyelomeningocele"], "xref": ["GARD:0010053", "ICD9:214.8", "MEDGEN:332109", "MESH:C537030", "OMIM:609537", "Orphanet:268835", "SCTID:104431000119107", "UMLS:C1836022", "icd11.foundation:1919145296"]}
{"category": ["biolink:Disease"], "description": "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.", "id": "MONDO:0012297", "name": "Spastic paraplegia, optic atropy, and neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPOAN", "SPOAN syndrome", "spastic paraplegia-optic atrophy-neuropathy syndrome"], "xref": ["DOID:0060491", "GARD:0017479", "MEDGEN:324411", "MESH:C563702", "OMIM:609541", "Orphanet:320406", "UMLS:C1836010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012298", "name": "Omphalocele, diaphragmatic hernia, and radial ray defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["omphalocele, diaphragmatic hernia, and radial ray defects"], "xref": ["MEDGEN:332105", "MESH:C563701", "OMIM:609545", "UMLS:C1836007"]}
{"category": ["biolink:Disease"], "description": "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.", "id": "MONDO:0012299", "name": "Nanophthalmos 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MFRP nanophthalmia", "nanophthalmia caused by mutation in MFRP", "nanophthalmos 2", "nanophthalmos type 2"], "xref": ["GARD:0018626", "MEDGEN:372177", "MESH:C563700", "OMIM:609549", "UMLS:C1836006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012300", "name": "Prostate cancer, hereditary, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 6", "prostate cancer, hereditary, type 6"], "xref": ["GARD:0015462", "MEDGEN:322797", "MESH:C563699", "OMIM:609558", "UMLS:C1836005"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.", "id": "MONDO:0012301", "name": "Mitochondrial dna depletion syndrome, myopathic form", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial DNA depletion syndrome type 2", "mtDNA depletion syndrome, myopathic form"], "xref": ["DOID:0080120", "GARD:0017228", "ICD9:359.89", "MEDGEN:461100", "MESH:C563698", "OMIM:609560", "Orphanet:254875", "SCTID:703527003", "UMLS:C3149750", "icd11.foundation:294556832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012302", "name": "Parietal foramina 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFM3", "parietal foramina 3"], "xref": ["GARD:0018052", "MEDGEN:322792", "MESH:C563697", "OMIM:609566", "UMLS:C1835980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012304", "name": "Photoparoxysmal response 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PPR2", "photoparoxysmal response 2"], "xref": ["GARD:0015463", "MEDGEN:324401", "OMIM:609572", "UMLS:C1835967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012305", "name": "Photoparoxysmal response 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PPR3", "photoparoxysmal response 3"], "xref": ["GARD:0015464", "MEDGEN:372169", "MESH:C563695", "OMIM:609573", "UMLS:C1835966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012306", "name": "Cardiomyopathy, familial restrictive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cardiomyopathy, familial restrictive, 2"], "xref": ["DOID:0111426", "GARD:0018071", "MEDGEN:400673", "MESH:C566512", "OMIM:609578", "UMLS:C1865071"]}
{"category": ["biolink:Disease"], "description": "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.", "id": "MONDO:0012307", "name": "Familial scaphocephaly syndrome, mcgillivray type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome"], "xref": ["GARD:0003426", "MEDGEN:355365", "MESH:C566511", "OMIM:609579", "Orphanet:168624", "UMLS:C1865070", "icd11.foundation:512057922"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.", "id": "MONDO:0012308", "name": "Joubert syndrome with renal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JBTS4", "JS-R", "Joubert syndrome type 4"], "xref": ["DOID:0110999", "GARD:0010169", "MEDGEN:335526", "MESH:C536296", "NCIT:C74997", "OMIM:609583", "Orphanet:220497", "SCTID:716999001", "UMLS:C1846790", "icd11.foundation:1419767028"]}
{"category": ["biolink:Disease"], "description": "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.", "id": "MONDO:0012309", "name": "Parietal foramina 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALX4 parietal foramina", "parietal foramina 2", "parietal foramina caused by mutation in ALX4", "parietal foramina type 2"], "xref": ["GARD:0018053", "MEDGEN:355358", "MESH:C566510", "OMIM:609597", "UMLS:C1865044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012310", "name": "Fibrosis of extraocular muscles, congenital, with synergistic divergence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fibrosis of extraocular muscles, congenital, with synergistic divergence"], "xref": ["GARD:0015466", "MEDGEN:351285", "MESH:C566508", "OMIM:609612", "UMLS:C1865040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012311", "name": "Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness"], "xref": ["MEDGEN:355893", "MESH:C566507", "OMIM:609616", "UMLS:C1865022"]}
{"category": ["biolink:Disease"], "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.", "id": "MONDO:0012312", "name": "Short qt syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNH2 short QT syndrome", "SQTS", "short QT syndrome caused by mutation in KCNH2", "short QT syndrome type 1"], "xref": ["GARD:0018633", "MEDGEN:355891", "MESH:C566506", "OMIM:609620", "UMLS:C1865020"]}
{"category": ["biolink:Disease"], "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.", "id": "MONDO:0012313", "name": "Short qt syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNQ1 short QT syndrome", "short QT syndrome caused by mutation in KCNQ1", "short QT syndrome type 2"], "xref": ["GARD:0018634", "MEDGEN:355890", "MESH:C566505", "OMIM:609621", "UMLS:C1865019"]}
{"category": ["biolink:Disease"], "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.", "id": "MONDO:0012314", "name": "Short qt syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNJ2 short QT syndrome", "short QT syndrome caused by mutation in KCNJ2", "short QT syndrome type 3"], "xref": ["GARD:0018635", "MEDGEN:400662", "MESH:C566504", "OMIM:609622", "UMLS:C1865018"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.", "id": "MONDO:0012315", "name": "Distal 10q deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 10q26 deletion syndrome", "distal deletion 10q", "distal monosomy 10q", "distal monosomy type 10q", "monosomy 10qter", "telomeric deletion 10q", "terminal chromosome 10q26 deletion syndrome"], "xref": ["DOID:0060390", "GARD:0003711", "MEDGEN:436306", "MESH:C567182", "OMIM:609625", "Orphanet:96148", "SCTID:718687003", "UMLS:C2674937"]}
{"category": ["biolink:Disease"], "description": "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.", "id": "MONDO:0012316", "name": "Majeed syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Majeed syndrome", "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome"], "xref": ["DOID:0061224", "GARD:0010088", "ICD9:759.89", "MEDGEN:351273", "MESH:C537839", "MedDRA:10072223", "NANDO:2200453", "NCIT:C119058", "OMIM:609628", "Orphanet:77297", "SCTID:703540008", "UMLS:C1864997", "icd11.foundation:1316564349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012317", "name": "Visceral neuropathy, familial, 3, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["visceral neuropathy, familial, autosomal dominant"], "xref": ["DOID:0080682", "GARD:0024859", "MEDGEN:351272", "OMIM:609629", "UMLS:C1864996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012318", "name": "Leukemia, chronic lymphocytic, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, chronic lymphocytic, susceptibility to, 1", "leukemia, chronic lymphocytic, susceptibility to, type 1"], "xref": ["GARD:0027813", "MEDGEN:351271", "OMIM:609630", "UMLS:C1864995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012319", "name": "Major affective disorder 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD3", "major affective disorder 3", "major affective disorder 3, early onset"], "xref": ["MEDGEN:351270", "MESH:C566501", "OMIM:609633", "UMLS:C1864994"]}
{"category": ["biolink:Disease"], "description": "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.", "id": "MONDO:0012320", "name": "Migraine, familial hemiplegic, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCN1A familial or sporadic hemiplegic migraine", "familial or sporadic hemiplegic migraine caused by mutation in SCN1A", "migraine, familial hemiplegic, 3", "migraine, familial hemiplegic, type 3"], "xref": ["DOID:0111183", "GARD:0010974", "MEDGEN:400655", "MESH:C566500", "OMIM:609634", "UMLS:C1864987"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.", "id": "MONDO:0012321", "name": "Alzheimer disease 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD10", "Alzheimer disease 10", "Alzheimer disease type 10", "Alzheimer disease-10", "Alzheimer's disease 10", "Alzheimer's disease type 10"], "xref": ["DOID:0110043", "GARD:0016514", "MEDGEN:351228", "MESH:C566465", "OMIM:609636", "UMLS:C1864828"]}
{"category": ["biolink:Disease"], "description": "Holoprosencephaly associated with mutations in the ZIC2 gene.", "id": "MONDO:0012322", "name": "Holoprosencephaly 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPE5", "ZIC2 holoprosencephaly", "holoprosencephaly 5", "holoprosencephaly caused by mutation in ZIC2", "holoprosencephaly type 5"], "xref": ["DOID:0110878", "GARD:0024860", "MEDGEN:355304", "MESH:C566464", "NCIT:C75460", "OMIM:609637", "UMLS:C1864827"]}
{"category": ["biolink:Disease"], "description": "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.", "id": "MONDO:0012323", "name": "Lethal acantholytic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LAEB", "lethal acantholytic epidermolysis bullosa"], "xref": ["GARD:0009910", "MEDGEN:400622", "MESH:C535493", "OMIM:609638", "Orphanet:158687", "UMLS:C1864826"]}
{"category": ["biolink:Disease"], "description": "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.", "id": "MONDO:0012324", "name": "Frias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["14q22-q23 microdeletion syndrome", "14q22q23 microdeletion syndrome", "Del(14)(q22q23)", "Frias syndrome", "monosomy 14q22-q23", "monosomy 14q22q23"], "xref": ["GARD:0002384", "MEDGEN:400621", "MESH:C535639", "OMIM:609640", "Orphanet:2055", "Orphanet:264200", "UMLS:C1864825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012325", "name": "Nguyen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Nguyen syndrome"], "xref": ["MEDGEN:400620", "MESH:C536115", "OMIM:609643", "UMLS:C1864823"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.", "id": "MONDO:0012326", "name": "Autosomal recessive nonsyndromic hearing loss 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 42"], "xref": ["DOID:0110500", "GARD:0022614", "MEDGEN:351225", "MESH:C566460", "OMIM:609646", "UMLS:C1864818"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.", "id": "MONDO:0012327", "name": "Autosomal recessive nonsyndromic hearing loss 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110503", "GARD:0022615", "MEDGEN:355302", "MESH:C566459", "OMIM:609647", "UMLS:C1864815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012328", "name": "Trichilemmal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:389216", "OMIM:609649", "SCTID:254677004", "UMLS:C2266788", "icd11.foundation:150930710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012329", "name": "Short stature and facioauriculothoracic malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["short stature and Facioauriculothoracic malformations"], "xref": ["MEDGEN:351216", "MESH:C566457", "OMIM:609654", "UMLS:C1864791"]}
{"category": ["biolink:Disease"], "description": "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.", "id": "MONDO:0012330", "name": "Talo-patello-scaphoid osteolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["singh-Williams-McAlister syndrome"], "xref": ["GARD:0010061", "MEDGEN:400611", "MESH:C536894", "OMIM:609655", "Orphanet:50809", "UMLS:C1864784", "icd11.foundation:1276091756"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.", "id": "MONDO:0012333", "name": "Autosomal recessive nonsyndromic hearing loss 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110509", "GARD:0022616", "MEDGEN:400602", "MESH:C566453", "OMIM:609706", "UMLS:C1864746"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.", "id": "MONDO:0012334", "name": "Hereditary spastic paraplegia 29", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG29", "hereditary spastic paraplegia type 29"], "xref": ["DOID:0110780", "GARD:0009729", "MEDGEN:346682", "MESH:C536863", "OMIM:609727", "Orphanet:101009", "SCTID:733029008", "UMLS:C1857855"]}
{"category": ["biolink:Disease"], "description": "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.", "id": "MONDO:0012335", "name": "Obesity due to pro-opiomelanocortin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["POMC Deficiency", "POMC deficiency", "obesity, adrenal insufficiency, and red hair due to POMC deficiency"], "xref": ["DOID:0051068", "GARD:0010823", "ICD9:255.5", "MEDGEN:341863", "MESH:C565726", "NORD:110450", "OMIM:609734", "Orphanet:71526", "SCTID:702949005", "UMLS:C1857854", "icd11.foundation:530374033"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.", "id": "MONDO:0012336", "name": "Cataract 22 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYBB3 early-onset non-syndromic cataract", "CTRCT22", "cataract 22", "early-onset non-syndromic cataract caused by mutation in CRYBB3"], "xref": ["DOID:0110268", "GARD:0024861", "MEDGEN:341862", "MESH:C565725", "OMIM:609741", "UMLS:C1857853"]}
{"category": ["biolink:Disease"], "description": "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.", "id": "MONDO:0012342", "name": "7q11.23 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(7)(q11.23)", "trisomy 7q11.23"], "xref": ["DECIPHER:43", "DOID:0080926", "GARD:0012076", "MEDGEN:347562", "MESH:C565723", "OMIM:609757", "Orphanet:96121", "SCTID:726707004", "UMLS:C1857844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012343", "name": "Aortic aneurysm, familial abdominal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAA2", "aortic aneurysm, familial abdominal 2", "aortic aneurysm, familial abdominal, 2"], "xref": ["GARD:0016492", "MEDGEN:339960", "MESH:C565229", "OMIM:609782", "UMLS:C1853364"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.", "id": "MONDO:0012344", "name": "Alzheimer disease 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD11", "Alzheimer disease 11", "Alzheimer disease type 11", "Alzheimer disease-11", "Alzheimer's disease 11", "Alzheimer's disease type 11"], "xref": ["DOID:0110044", "GARD:0016515", "MEDGEN:377886", "MESH:C565228", "OMIM:609790", "UMLS:C1853360"]}
{"category": ["biolink:Disease"], "description": "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.", "id": "MONDO:0012345", "name": "Acral peeling skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acral PSS", "acral deciduous skin", "acral peeling skin syndrome", "localised PSS", "localised deciduous skin", "localized PSS", "localized deciduous skin", "peeling skin syndrome type 2"], "xref": ["DOID:0070521", "GARD:0012863", "MEDGEN:342862", "MESH:C536316", "OMIM:609796", "Orphanet:263534", "SCTID:709416009", "UMLS:C1853354"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012346", "name": "Generalized epilepsy with febrile seizures plus, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFSP4", "generalized epilepsy with febrile seizures plus, type 4"], "xref": ["DOID:0111293", "GARD:0018662", "MEDGEN:342858", "MESH:C565227", "OMIM:609800", "UMLS:C1853345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012347", "name": "Hamartoma, precalcaneal congenital fibrolipomatous", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hamartoma, Precalcaneal congenital fibrolipomatous"], "xref": ["MEDGEN:342846", "MESH:C565226", "OMIM:609808", "UMLS:C1853298"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.", "id": "MONDO:0012348", "name": "Maturity-onset diabetes of the young type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEL maturity-onset diabetes of the young (disease)", "MODY8", "maturity-onset diabetes of the young (disease) caused by mutation in CEL", "maturity-onset diabetes of the young, type VIII"], "xref": ["DOID:0111105", "GARD:0010662", "MEDGEN:342845", "MESH:C565225", "OMIM:609812", "SCTID:609575003", "UMLS:C1853297"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.", "id": "MONDO:0012349", "name": "Spondylocostal dysostosis 3, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LFNG autosomal recessive spondylocostal dysostosis", "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG", "spondylocostal dysostosis 3, autosomal recessive"], "xref": ["DOID:0112361", "GARD:0004973", "MEDGEN:377871", "OMIM:609813", "UMLS:C1853296"]}
{"category": ["biolink:Disease"], "description": "Any complement 3 glomerulopathy caused by variation(s) in the CFH gene, characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.", "id": "MONDO:0012350", "name": "Complement factor h deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C3 glomerulopathy 1", "CFH deficiency", "complement factor H deficiency", "factor H deficiency", "immunodeficiency with factor H anomaly"], "xref": ["GARD:0017099", "GARD:0018551", "ICD9:279.8", "MEDGEN:96024", "MESH:C562875", "NANDO:2200791", "OMIM:609814", "Orphanet:200421", "SCTID:234622003", "UMLS:C0398777", "icd11.foundation:946399055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012351", "name": "Zygodactyly type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["SD1, Weidenreich type", "SD1a", "Zygodactyly, Weidenreich type", "syndactyly type 1, Weidenreich type", "syndactyly type 1a", "zygodactyly type 1"], "xref": ["DOID:0111820", "GARD:0017357", "MEDGEN:377870", "MESH:C565223", "OMIM:609815", "Orphanet:295187", "UMLS:C1853294", "icd11.foundation:1671375617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012352", "name": "Vasculitis, lymphocytic, cutaneous small vessel", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vasculitis, lymphocytic, cutaneous small vessel"], "xref": ["MEDGEN:344012", "MESH:C565222", "OMIM:609817", "UMLS:C1853293"]}
{"category": ["biolink:Disease"], "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.", "id": "MONDO:0012353", "name": "Erythrocytosis, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EGLN1 familial polycythemia", "erythrocytosis, familial, 3", "erythrocytosis, familial, type 3", "familial polycythemia caused by mutation in EGLN1"], "xref": ["DOID:0080338", "GARD:0018355", "MEDGEN:377868", "MESH:C565221", "OMIM:609820", "UMLS:C1853286"]}
{"category": ["biolink:Disease"], "description": "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.", "id": "MONDO:0012354", "name": "Platelet-type bleeding disorder 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["platelet-type bleeding disorder 8"], "xref": ["DOID:0060692", "GARD:0012478", "MEDGEN:344008", "MESH:C565220", "NANDO:2200669", "OMIM:609821", "Orphanet:36355", "SCTID:725291001", "UMLS:C1853278"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.", "id": "MONDO:0012355", "name": "Autosomal recessive nonsyndromic hearing loss 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 28"], "xref": ["DOID:0110486", "GARD:0022617", "MEDGEN:342839", "MESH:C565218", "NCIT:C129023", "OMIM:609823", "UMLS:C1853276"]}
{"category": ["biolink:Disease"], "description": "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.", "id": "MONDO:0012359", "name": "Combined immunodeficiency due to partial rag1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to partial RAG1 deficiency", "CID with expansion of gamma delta T cells", "combined immunodeficiency with expansion of gamma delta T cells"], "xref": ["GARD:0013712", "MEDGEN:372161", "MESH:C563691", "OMIM:609889", "Orphanet:231154", "SCTID:725290000", "UMLS:C1835931"]}
{"category": ["biolink:Disease"], "description": "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.", "id": "MONDO:0012360", "name": "Congenital nongoitrous hypothyroidism 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CHNG3", "hypothyroidism, congenital, nongoitrous, 3"], "xref": ["DOID:0070127", "GARD:0024862", "MEDGEN:424853", "MESH:C567935", "OMIM:609893", "UMLS:C2940785"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.", "id": "MONDO:0012362", "name": "Dilated cardiomyopathy 1p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1P", "PLN familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, 1P", "cardiomyopathy, dilated, type 1P", "dilated cardiomyopathy type 1P", "familial isolated dilated cardiomyopathy caused by mutation in PLN"], "xref": ["DOID:0110439", "GARD:0015469", "MEDGEN:322782", "MESH:C563690", "OMIM:609909", "UMLS:C1835928"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.", "id": "MONDO:0012363", "name": "Retinitis pigmentosa 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["RP32", "retinitis pigmentosa 32", "retinitis pigmentosa type 32"], "xref": ["DOID:0110355", "GARD:0010395", "MEDGEN:322781", "MESH:C563689", "OMIM:609913", "UMLS:C1835927"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.", "id": "MONDO:0012364", "name": "Dilated cardiomyopathy 1q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1Q", "dilated cardiomyopathy type 1Q"], "xref": ["DOID:0110442", "GARD:0015470", "MEDGEN:332088", "MESH:C563688", "OMIM:609915", "UMLS:C1835926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012365", "name": "Gallbladder disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GBD2", "gallbladder disease 2"], "xref": ["MEDGEN:372160", "MESH:C563687", "OMIM:609918", "UMLS:C1835925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012366", "name": "Gallbladder disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GBD3", "gallbladder disease 3"], "xref": ["MEDGEN:332087", "MESH:C563686", "OMIM:609919", "UMLS:C1835924"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.", "id": "MONDO:0012367", "name": "Retinitis pigmentosa 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP31", "TOPORS retinitis pigmentosa", "retinitis pigmentosa 31", "retinitis pigmentosa caused by mutation in TOPORS", "retinitis pigmentosa type 31"], "xref": ["DOID:0110391", "GARD:0010396", "MEDGEN:372159", "MESH:C563685", "OMIM:609923", "UMLS:C1835923"]}
{"category": ["biolink:Disease"], "description": "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.", "id": "MONDO:0012368", "name": "Aminoacylase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACY1D", "N-acyl-L-amino acid amidohydrolase deficiency", "aminoacylase 1 deficiency", "neurological conditions associated with aminoacylase 1 deficiency"], "xref": ["EFO:1001981", "GARD:0009741", "ICD9:270.8", "MEDGEN:324393", "MESH:C538246", "OMIM:609924", "Orphanet:137754", "SCTID:709282004", "UMLS:C1835922"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.", "id": "MONDO:0012370", "name": "Autosomal recessive nonsyndromic hearing loss 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110508", "GARD:0009918", "MEDGEN:355880", "MESH:C538202", "OMIM:609941", "UMLS:C1864968"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.", "id": "MONDO:0012371", "name": "Noonan syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRAS Noonan syndrome", "KRAS gene related Noonan syndrome", "NS3", "Noonan syndrome 3", "Noonan syndrome caused by mutation in KRAS", "Noonan syndrome type 3"], "xref": ["DOID:0060581", "GARD:0009885", "MEDGEN:349931", "MESH:C537847", "NCIT:C176931", "OMIM:609942", "UMLS:C1860991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012373", "name": "Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features"], "xref": ["MEDGEN:355878", "MESH:C536182", "OMIM:609944", "UMLS:C1864966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012374", "name": "Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachyphalangy, polydactyly, and tibial aplasia/hypoplasia"], "xref": ["MEDGEN:355340", "MESH:C537100", "OMIM:609945", "UMLS:C1864965"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.", "id": "MONDO:0012375", "name": "Autosomal recessive nonsyndromic hearing loss 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["deafness, neurosensory, autosomal recessive 47"], "xref": ["DOID:0110504", "GARD:0009935", "MEDGEN:355339", "MESH:C566498", "OMIM:609946", "UMLS:C1864964"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.", "id": "MONDO:0012376", "name": "Autosomal recessive nonsyndromic hearing loss 55", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110510", "GARD:0009919", "MEDGEN:355338", "MESH:C538203", "OMIM:609952", "UMLS:C1864962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012378", "name": "Fibromatosis, gingival, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GINGF3", "fibromatosis, gingival, 3"], "xref": ["GARD:0009911", "MEDGEN:351261", "MESH:C537928", "OMIM:609955", "UMLS:C1864960"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.", "id": "MONDO:0012380", "name": "Autosomal dominant nonsyndromic hearing loss 53", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110579", "GARD:0009934", "MEDGEN:355336", "MESH:C566495", "OMIM:609965", "UMLS:C1864957"]}
{"category": ["biolink:Disease"], "description": "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.", "id": "MONDO:0012381", "name": "Hyperinsulinism due to insr deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to INSR deficiency", "hyperinsulinemic hypoglycemia due to insulin receptor deficiency", "hyperinsulinemic hypoglycemia, familial, type 5"], "xref": ["DOID:0070220", "GARD:0017256", "MEDGEN:355335", "MESH:C566494", "OMIM:609968", "Orphanet:263458", "SCTID:721235003", "UMLS:C1864952"]}
{"category": ["biolink:Disease"], "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.", "id": "MONDO:0012382", "name": "Hyperinsulinemic hypoglycemia, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HADH hyperinsulinemic hypoglycemia (disease)", "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH", "hyperinsulinemic hypoglycemia due to HADH deficiency", "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency", "hyperinsulinemic hypoglycemia, familial, 4", "hyperinsulinemic hypoglycemia, familial, type 4", "hyperinsulinism due to SCHAD deficiency", "hyperinsulinism due to glutamodehydrogenase deficiency", "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency", "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"], "xref": ["DOID:0070215", "GARD:0009870", "MEDGEN:400646", "MESH:C566493", "OMIM:609975", "Orphanet:71212", "SCTID:721236002", "UMLS:C1864948"]}
{"category": ["biolink:Disease"], "description": "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.", "id": "MONDO:0012383", "name": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mini-chromosome maintenance 4", "primary immunodeficiency due to MCM4 deficiency"], "xref": ["DOID:0111967", "GARD:0016695", "MEDGEN:351256", "MESH:C566492", "NANDO:2200771", "NCIT:C123729", "OMIM:609981", "Orphanet:75391", "SCTID:724275005", "UMLS:C1864947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012384", "name": "Panic disorder 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["panic disorder 3", "panic disorder type 3"], "xref": ["MEDGEN:400645", "OMIM:609985", "UMLS:C1864946"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012385", "name": "Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands"], "xref": ["MEDGEN:355877", "MESH:C537354", "OMIM:609989", "UMLS:C1864944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012386", "name": "Trichoscyphodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichoscyphodysplasia"], "xref": ["MEDGEN:355876", "MESH:C536557", "OMIM:609990", "UMLS:C1864943"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.", "id": "MONDO:0012387", "name": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"], "xref": ["GARD:0009904", "MEDGEN:355875", "MESH:C536064", "OMIM:609993", "Orphanet:75325", "SCTID:722114007", "UMLS:C1864942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012388", "name": "Myopia 11, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP11", "myopia 11", "myopia 11, autosomal dominant"], "xref": ["MEDGEN:355874", "MESH:C566490", "OMIM:609994", "UMLS:C1864941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012389", "name": "Myopia 12, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP12", "myopia 12", "myopia 12, autosomal dominant"], "xref": ["MEDGEN:355332", "MESH:C566489", "OMIM:609995", "UMLS:C1864940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012390", "name": "Arthrogryposis multiplex with deafness, inguinal hernias, and early death", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arthrogryposis multiplex with deafness, inguinal hernias, and early death"], "xref": ["MEDGEN:400644", "MESH:C535381", "OMIM:610001", "UMLS:C1864939"]}
{"category": ["biolink:Disease"], "description": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.", "id": "MONDO:0012391", "name": "Neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CLN8 disease, Northern epilepsy variant", "EPMR", "NCL, Northern epilepsy variant", "Northern epilepsy", "early onset familial encephalopathy with neuroserpin inclusion bodies", "neuronal ceroid lipofuscinosis, Northern epilepsy variant", "progressive epilepsy with intellectual disability, northern epilepsy", "progressive epilepsy-intellectual disability syndrome, Finnish type", "progressive myoclonic epilepsy with neuroserpin inclusion bodies"], "xref": ["DOID:0110724", "GARD:0004010", "ICD10CM:G40.3", "MEDGEN:355328", "OMIM:610003", "Orphanet:1947", "Orphanet:530298", "UMLS:C1864923"]}
{"category": ["biolink:Disease"], "description": "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.", "id": "MONDO:0012392", "name": "2-methylbutyryl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2-methylbutyric aciduria", "2-methylbutyryl-CoA dehydrogenase deficiency", "2-methylbutyrylglycinuria", "SBCAD deficiency", "butyryl-CoA dehydrogenase deficiency", "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency", "short/branched-chain acyl-coA dehydrogenase deficiency"], "xref": ["GARD:0010322", "MEDGEN:355324", "MESH:C566487", "NCIT:C98863", "OMIM:610006", "Orphanet:79157", "UMLS:C1864912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012393", "name": "Congenital brain dysgenesis due to glutamine synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital brain dysgenesis due to glutamine synthetase deficiency", "inherited GS deficiency", "inherited glutamine synthetase deficiency"], "xref": ["DOID:0070544", "GARD:0009848", "MEDGEN:400638", "MESH:C536832", "OMIM:610015", "Orphanet:71278", "UMLS:C1864910", "icd11.foundation:238162640"]}
{"category": ["biolink:Disease"], "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.", "id": "MONDO:0012394", "name": "Multiple synostoses syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF5 multiple synostoses syndrome", "multiple synostoses syndrome 2", "multiple synostoses syndrome caused by mutation in GDF5", "multiple synostoses syndrome type 2"], "xref": ["DOID:0081318", "GARD:0009916", "MEDGEN:331348", "MESH:C537380", "OMIM:610017", "UMLS:C1832708"]}
{"category": ["biolink:Disease"], "description": "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.", "id": "MONDO:0012395", "name": "Cataract 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CATC2", "CTRCT18", "FYCO1 cataract (disease)", "cataract (disease) caused by mutation in FYCO1", "cataract 18", "cataract 18, autosomal recessive", "cataract type 18"], "xref": ["DOID:0110238", "GARD:0009892", "MEDGEN:351249", "MESH:C535337", "OMIM:610019", "UMLS:C1864908"]}
{"category": ["biolink:Disease"], "description": "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.", "id": "MONDO:0012396", "name": "Exercise-induced hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EIHI", "MCT1 hyperinsulinism", "exercise-induced hyperinsulinemic hypoglycemia", "hyperinsulinemic hypoglycemia, familial, type 7", "hyperinsulinism due to SLC16A1 deficiency", "hyperinsulinism due to monocarboxylate transporter 1 deficiency", "monocarboxylate transporter 1 hyperinsulinism"], "xref": ["DOID:0070214", "GARD:0009932", "MEDGEN:351246", "MESH:C538376", "NCIT:C131839", "OMIM:610021", "Orphanet:165991", "SCTID:715830008", "UMLS:C1864902", "icd11.foundation:999935139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012397", "name": "Brachydactyly, coloboma, and anterior segment dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachydactyly, coloboma, and anterior segment dysgenesis"], "xref": ["MEDGEN:355321", "MESH:C566484", "OMIM:610023", "UMLS:C1864901"]}
{"category": ["biolink:Disease"], "description": "Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive.", "id": "MONDO:0012398", "name": "Achromatopsia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACHM6", "RCD3A", "retinal cone dystrophy 3A", "retinal cone dystrophy type 3A"], "xref": ["DOID:0081025", "GARD:0010648", "MESH:C566483", "OMIM:610024"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.", "id": "MONDO:0012399", "name": "Complex cortical dysplasia with other brain malformations 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDCBM7", "TUBB2B complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B", "complex cortical dysplasia with other brain malformations type 7", "polymicrogyria due to TUBB2B mutation"], "xref": ["DOID:0090132", "GARD:0017375", "MEDGEN:765150", "OMIM:610031", "Orphanet:300573", "UMLS:C3552236"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.", "id": "MONDO:0012400", "name": "Cortical dysplasia-focal epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDFE syndrome", "CDFES", "Pitt-Hopkins like syndrome 1", "cortical dysplasia-focal epilepsy syndrome"], "xref": ["DOID:0090130", "GARD:0016997", "MEDGEN:413258", "MESH:C567657", "NCIT:C133743", "OMIM:610042", "Orphanet:163681", "UMLS:C2750246"]}
{"category": ["biolink:Disease"], "description": "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.", "id": "MONDO:0012401", "name": "Congenital stromal corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CSCD", "Witschel dystrophy", "congenital hereditary stromal dystrophy", "congenital stromal corneal dystrophy"], "xref": ["DOID:0060445", "GARD:0016943", "ICD9:371.56", "MEDGEN:400601", "MESH:C566452", "OMIM:610048", "Orphanet:101068", "SCTID:702359002", "UMLS:C1864738", "icd11.foundation:1796933876"]}
{"category": ["biolink:Disease"], "description": "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.", "id": "MONDO:0012405", "name": "Polyposis syndrome, hereditary mixed, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BMPR1A hereditary mixed polyposis syndrome", "hereditary mixed polyposis syndrome caused by mutation in BMPR1A", "polyposis syndrome, hereditary mixed, 2", "polyposis syndrome, hereditary mixed, type 2"], "xref": ["DOID:0111686", "GARD:0018276", "MEDGEN:350500", "MESH:C566451", "OMIM:610069", "UMLS:C1864730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012406", "name": "Hyperparathyroidism 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HRPT3", "hyperparathyroidism 3"], "xref": ["GARD:0018255", "MEDGEN:355277", "MESH:C566450", "OMIM:610071", "UMLS:C1864729"]}
{"category": ["biolink:Disease"], "description": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.", "id": "MONDO:0012407", "name": "Pyridoxal phosphate-responsive seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNPO deficiency", "PNPO-related neonatal epileptic encephalopathy", "pyridox(am)ine 5’-phosphate oxidase deficiency", "pyridoxal phosphate-dependent seizures", "pyridoxamine 5'-phosphate oxidase deficiency", "pyridoxine 5' phosphate oxidase deficiency"], "xref": ["DOID:0111329", "GARD:0010730", "MEDGEN:350498", "MESH:C566449", "OMIM:610090", "Orphanet:79096", "SCTID:724576005", "UMLS:C1864723", "icd11.foundation:1632334328", "icd11.foundation:604024463"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.", "id": "MONDO:0012408", "name": "Microphthalmia, isolated, with coloboma 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VSX2 microphthalmia, isolated, with coloboma", "microphthalmia with coloboma 3", "microphthalmia, isolated, with coloboma 3", "microphthalmia, isolated, with coloboma caused by mutation in VSX2", "microphthalmia, isolated, with coloboma type 3"], "xref": ["GARD:0015471", "MEDGEN:400598", "MESH:C566447", "OMIM:610092", "UMLS:C1864721"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.", "id": "MONDO:0012409", "name": "Isolated microphthalmia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOP2", "VSX2 isolated microphthalmia", "isolated microphthalmia caused by mutation in VSX2", "isolated microphthalmia type 2", "microphthalmia, isolated type 2"], "xref": ["DOID:0060839", "GARD:0024863", "MEDGEN:351204", "MESH:C566446", "OMIM:610093", "UMLS:C1864720"]}
{"category": ["biolink:Disease"], "description": "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.", "id": "MONDO:0012410", "name": "Finnish upper limb-onset distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPD3", "distal myopathy type 3"], "xref": ["DOID:0111189", "GARD:0017652", "MEDGEN:400595", "OMIM:610099", "Orphanet:399086", "SCTID:763718009", "UMLS:C1864706"]}
{"category": ["biolink:Disease"], "description": "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.", "id": "MONDO:0012411", "name": "Giant axonal neuropathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2 with giant axons", "DCAF8 giant axonal neuropathy", "HMSN2 with giant axons", "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons", "giant axonal neuropathy caused by mutation in DCAF8", "giant axonal neuropathy type 2"], "xref": ["DOID:0090069", "GARD:0012447", "MEDGEN:400593", "OMIM:610100", "Orphanet:401964", "UMLS:C1864695"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.", "id": "MONDO:0012412", "name": "Complement component 7 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C7 classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C7", "complement component 7 deficiency"], "xref": ["DOID:0060300", "GARD:0018290", "MEDGEN:355270", "MESH:C566443", "NANDO:2200785", "OMIM:610102", "UMLS:C1864694"]}
{"category": ["biolink:Disease"], "description": "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.", "id": "MONDO:0012413", "name": "Syndromic microphthalmia type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS5", "OTX2 syndromic microphthalmia", "microphthalmia, syndromic type 5", "syndromic microphthalmia caused by mutation in OTX2", "syndromic microphthalmia type 5", "syndromic microphthalmia/anophthalmia due to OTX2 mutation"], "xref": ["DOID:0111806", "GARD:0003692", "MEDGEN:350491", "MESH:C566441", "OMIM:610125", "Orphanet:178364", "SCTID:718761007", "UMLS:C1864690"]}
{"category": ["biolink:Disease"], "description": "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "id": "MONDO:0012414", "name": "Neuronal ceroid lipofuscinosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN10", "CLN10-NCL", "CTSD neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 10", "neuronal ceroid lipofuscinosis caused by mutation in CTSD", "neuronal ceroid lipofuscinosis due to cathepsin D deficiency", "neuronal ceroid lipofuscinosis type 10"], "xref": ["DOID:0110725", "GARD:0001218", "MEDGEN:350481", "MESH:C566438", "OMIM:610127", "Orphanet:228337", "SCTID:720831008", "UMLS:C1864669"]}
{"category": ["biolink:Disease"], "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.", "id": "MONDO:0012415", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions", "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4"], "xref": ["DOID:0111525", "GARD:0016500", "MEDGEN:350480", "MESH:C566437", "OMIM:610131", "UMLS:C1864668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012416", "name": "Devriendt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Devriendt syndrome"], "xref": ["MEDGEN:341860", "MESH:C535947", "OMIM:610136", "UMLS:C1857830"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.", "id": "MONDO:0012417", "name": "Heart-hand syndrome, slovenian type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome", "atriodigital dysplasia, Slovenian type", "heart-hand syndrome, Slovenian type"], "xref": ["GARD:0009846", "MEDGEN:341859", "MESH:C535852", "OMIM:610140", "Orphanet:168796", "SCTID:721014007", "UMLS:C1857829", "icd11.foundation:1814304618"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.", "id": "MONDO:0012418", "name": "Autosomal recessive nonsyndromic hearing loss 62", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110514", "GARD:0022618", "MEDGEN:387916", "MESH:C565719", "OMIM:610143", "UMLS:C1857820"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.", "id": "MONDO:0012419", "name": "Age related macular degeneration 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARMD7", "HTRA1 age-related macular degeneration", "age related macular degeneration type 7", "age-related macular degeneration caused by mutation in HTRA1", "macular Degeneration, age-related, type 7", "macular degeneration, age-related, neovascular type"], "xref": ["DOID:0110019", "GARD:0024864", "MEDGEN:347554", "MESH:C565718", "OMIM:610149", "UMLS:C1857813"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.", "id": "MONDO:0012420", "name": "Autosomal recessive nonsyndromic hearing loss 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 49"], "xref": ["DOID:0110506", "GARD:0022619", "MEDGEN:346670", "MESH:C565717", "NCIT:C129024", "OMIM:610153", "UMLS:C1857811"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.", "id": "MONDO:0012421", "name": "Autosomal recessive nonsyndromic hearing loss 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110501", "GARD:0022620", "MEDGEN:341854", "MESH:C565716", "OMIM:610154", "UMLS:C1857809"]}
{"category": ["biolink:Disease"], "description": "MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.", "id": "MONDO:0012423", "name": "Morm syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MORM syndrome", "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome", "mental retardation, truncal obesity, retinal dystrophy, and micropenis", "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome"], "xref": ["GARD:0010121", "MEDGEN:341851", "MESH:C536984", "OMIM:610156", "Orphanet:75858", "SCTID:715628009", "UMLS:C1857802", "icd11.foundation:1027545274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012425", "name": "Corneal dystrophy, fuchs endothelial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FECD2"], "xref": ["GARD:0018217", "MEDGEN:347552", "MESH:C535479", "OMIM:610158", "UMLS:C1857800"]}
{"category": ["biolink:Disease"], "description": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.", "id": "MONDO:0012426", "name": "Immunodeficiency 25", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD247 severe combined immunodeficiency (disease)", "CD3zeta deficiency", "immunodeficiency 25", "immunodeficiency type 25", "severe combined immunodeficiency (disease) caused by mutation in CD247"], "xref": ["DOID:0060007", "DOID:0111942", "GARD:0018294", "MEDGEN:346666", "MESH:C565712", "OMIM:610163", "UMLS:C1857798"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.", "id": "MONDO:0012427", "name": "Loeys-dietz syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Loeys-Dietz syndrome 2", "Loeys-Dietz syndrome caused by mutation in TGFBR2", "Loeys-Dietz syndrome type 2", "Loeys-Dietz syndrome type II", "TGFBR2 Loeys-Dietz syndrome"], "xref": ["DOID:0070234", "GARD:0010586", "MEDGEN:382398", "MESH:C537783", "NCIT:C114768", "OMIM:610168", "Orphanet:284973", "UMLS:C2674574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012428", "name": "Kyphoscoliosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["KYPSC1", "kyphoscoliosis 1"], "xref": ["MEDGEN:347550", "MESH:C565711", "OMIM:610170", "UMLS:C1857795"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.", "id": "MONDO:0012429", "name": "Aicardi-goutieres syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 2", "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B", "Aicardi-Goutieres syndrome type 2", "RNASEH2B Aicardi-Goutieres syndrome"], "xref": ["GARD:0015472", "MEDGEN:483677", "NANDO:2200894", "NCIT:C165673", "OMIM:610181", "UMLS:C3489724"]}
{"category": ["biolink:Disease"], "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.", "id": "MONDO:0012430", "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["WDR81 dysequilibrium syndrome", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2", "dysequilibrium syndrome caused by mutation in WDR81"], "xref": ["DOID:0070557", "GARD:0015473", "MEDGEN:412914", "MESH:C567656", "OMIM:610185", "UMLS:C2750234"]}
{"category": ["biolink:Disease"], "description": "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.", "id": "MONDO:0012431", "name": "Diaphragmatic hernia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ZFPM2 congenital diaphragmatic hernia", "congenital diaphragmatic hernia caused by mutation in ZFPM2", "diaphragmatic hernia 3", "diaphragmatic hernia type 3"], "xref": ["GARD:0015474", "MEDGEN:347546", "MESH:C565710", "OMIM:610187", "UMLS:C1857781"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.", "id": "MONDO:0012432", "name": "Joubert syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP290 Joubert syndrome", "JBTS5", "Joubert syndrome 5", "Joubert syndrome caused by mutation in CEP290", "Joubert syndrome type 5"], "xref": ["DOID:0111000", "GARD:0015475", "MEDGEN:347545", "MESH:C537688", "OMIM:610188", "UMLS:C1857780"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.", "id": "MONDO:0012433", "name": "Senior-loken syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP290 Senior-Loken syndrome", "Senior-Loken syndrome 6", "Senior-Loken syndrome caused by mutation in CEP290", "Senior-Loken syndrome type 6"], "xref": ["DOID:0061280", "GARD:0015476", "MEDGEN:387907", "MESH:C565708", "OMIM:610189", "UMLS:C1857779"]}
{"category": ["biolink:Disease"], "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.", "id": "MONDO:0012434", "name": "Arrhythmogenic right ventricular dysplasia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC10", "ARVD10", "DSG2 arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular cardiomyopathy 10", "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2", "arrhythmogenic right ventricular dysplasia 10", "arrhythmogenic right ventricular dysplasia type 10", "arrhythmogenic right ventricular dysplasia, familial, type 10"], "xref": ["DOID:0110081", "GARD:0024865", "MEDGEN:347543", "MESH:C565707", "OMIM:610193", "UMLS:C1857777"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.", "id": "MONDO:0012435", "name": "3-methylglutaconic aciduria type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria caused by mutation in DNAJC19", "3-methylglutaconic aciduria type 5", "3-methylglutaconic aciduria type V", "DCMA", "DCMA syndrome", "DNAJC19 3-methylglutaconic aciduria", "MGA5", "MGCA5", "dilated cardiomyopathy with ataxia"], "xref": ["DOID:0110000", "GARD:0012964", "MEDGEN:347542", "MESH:C565706", "NCIT:C173146", "OMIM:610198", "Orphanet:66634", "SCTID:711412004", "UMLS:C1857776", "icd11.foundation:422277813"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others", "id": "MONDO:0012436", "name": "Neonatal diabetes mellitus with congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NDH syndrome", "neonatal diabetes mellitus with congenital hypothyroidism"], "xref": ["DOID:0060638", "GARD:0016699", "MEDGEN:347541", "MESH:C565705", "OMIM:610199", "Orphanet:79118", "UMLS:C1857775"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.", "id": "MONDO:0012437", "name": "Cataract 21 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT21", "MAF early-onset non-syndromic cataract", "early-onset non-syndromic cataract caused by mutation in MAF"], "xref": ["DOID:0110256", "GARD:0024866", "MEDGEN:347538", "MESH:C565703", "OMIM:610202", "UMLS:C1857768"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.", "id": "MONDO:0012438", "name": "Pontocerebellar hypoplasia type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["PCH5", "fetal-onset olivopontocerebellar hypoplasia"], "xref": ["DOID:0060274", "GARD:0010709", "MEDGEN:341845", "MESH:C537745", "OMIM:610204", "Orphanet:166068", "SCTID:718607001", "UMLS:C1857762", "icd11.foundation:1962551792"]}
{"category": ["biolink:Disease"], "description": "A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present.", "id": "MONDO:0012439", "name": "Alagille syndrome due to a notch2 point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alagille syndrome due to a NOTCH2 point mutation", "Alagille syndrome type 2", "Alagille syndrome-NOTCH2", "Alagille-Watson syndrome due to a NOTCH2 point mutation", "Arteriohepatic dysplasia due to a NOTCH2 point mutation", "syndromic bile duct paucity due to a NOTCH2 point mutation"], "xref": ["GARD:0017252", "MEDGEN:341844", "OMIM:610205", "Orphanet:261629", "UMLS:C1857761"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.", "id": "MONDO:0012442", "name": "Autosomal recessive nonsyndromic hearing loss 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110517", "GARD:0022621", "MEDGEN:346659", "MESH:C565701", "OMIM:610212", "UMLS:C1857750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012443", "name": "Aneurysm, intracranial berry, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB4"], "xref": ["DOID:0080967", "GARD:0018323", "MEDGEN:341838", "MESH:C565700", "OMIM:610213", "UMLS:C1857749"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012444", "name": "Neurodegeneration with brain iron accumulation 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NBIA2B", "NBIA2b", "neuroaxonal dystrophy, atypical", "neurodegeneration with brain iron accumulation 2B", "neurodegeneration with brain iron accumulation type 2B", "neurodegeneration with brain iron accumulation type 2b", "neurodegeneration with brain iron accumulation, Pla2g6-related"], "xref": ["DOID:0110736", "GARD:0010688", "MEDGEN:346658", "NANDO:1200538", "OMIM:610217", "UMLS:C1857747"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.", "id": "MONDO:0012445", "name": "Autosomal recessive nonsyndromic hearing loss 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 59"], "xref": ["DOID:0110511", "GARD:0022622", "MEDGEN:387899", "MESH:C565698", "OMIM:610220", "UMLS:C1857744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012446", "name": "Seborrhea-like dermatitis with psoriasiform elements", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["seborrhea-like dermatitis with psoriasiform elements"], "xref": ["GARD:0017039", "MEDGEN:342832", "MESH:C565217", "OMIM:610227", "Orphanet:168606", "UMLS:C1853258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012447", "name": "Synpolydactyly type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["SD2, Malik type", "SD2c", "SPD, Malik type", "SPD3", "synpolydactyly, Malik type"], "xref": ["GARD:0017360", "MEDGEN:344005", "MESH:C565216", "OMIM:610234", "Orphanet:295199", "UMLS:C1853255", "icd11.foundation:1671501762"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.", "id": "MONDO:0012448", "name": "Hereditary spastic paraplegia 33", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPG33", "ZFYVE27 hereditary spastic paraplegia", "hereditary spastic paraplegia caused by mutation in ZFYVE27", "hereditary spastic paraplegia type 33"], "xref": ["DOID:0110784", "GARD:0024867", "MEDGEN:339943", "MESH:C565214", "OMIM:610244", "UMLS:C1853251"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.", "id": "MONDO:0012449", "name": "Spinocerebellar ataxia type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA23", "spinocerebellar ataxia type 23"], "xref": ["DOID:0050973", "GARD:0009950", "MEDGEN:339942", "MESH:C537201", "OMIM:610245", "Orphanet:101108", "SCTID:718772002", "UMLS:C1853250", "icd11.foundation:1340267869"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.", "id": "MONDO:0012450", "name": "Spinocerebellar ataxia type 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA28", "spinocerebellar ataxia type 28"], "xref": ["DOID:0050977", "GARD:0009951", "MEDGEN:339941", "MESH:C537205", "OMIM:610246", "Orphanet:101109", "SCTID:715824008", "UMLS:C1853249", "icd11.foundation:2020736035"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012451", "name": "Esophagitis, eosinophilic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EOE1", "esophagitis, eosinophilic, 1"], "xref": ["GARD:0024868", "MEDGEN:1634032", "OMIM:610247", "UMLS:C4551589"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.", "id": "MONDO:0012452", "name": "Autosomal recessive nonsyndromic hearing loss 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110516", "GARD:0022623", "MEDGEN:344004", "MESH:C565211", "OMIM:610248", "UMLS:C1853248"]}
{"category": ["biolink:Disease"], "description": "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.", "id": "MONDO:0012453", "name": "Hereditary spastic paraplegia 31", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["REEP1 hereditary spastic paraplegia", "SPG31", "autosomal dominant spastic paraplegia type 31", "hereditary spastic paraplegia caused by mutation in REEP1", "hereditary spastic paraplegia type 31"], "xref": ["DOID:0110782", "GARD:0010817", "MEDGEN:377858", "MESH:C565210", "OMIM:610250", "Orphanet:101011", "SCTID:763068005", "UMLS:C1853247"]}
{"category": ["biolink:Disease"], "description": "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.", "id": "MONDO:0012454", "name": "Alcohol sensitivity, acute", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["alcohol sensitivity, acute"], "xref": ["MEDGEN:390639", "OMIM:610251", "UMLS:C2674838"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.", "id": "MONDO:0012455", "name": "Kleefstra syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["9Q- syndrome", "9q-syndrome", "9q34 deletion syndrome", "9q34.3 microdeletion syndrome", "Kleefstra syndrome", "chromosome 9Q34.3 deletion syndrome", "chromosome 9q deletion syndrome"], "xref": ["DOID:0080597", "GARD:0008672", "MEDGEN:1684615", "NANDO:1200959", "NORD:184097", "OMIMPS:610253", "Orphanet:261494", "UMLS:C4551771", "icd11.foundation:1997337437"]}
{"category": ["biolink:Disease"], "description": "Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.", "id": "MONDO:0012456", "name": "Congenital primary aphakia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anterior segment dysgenesis 2, multiple subtypes", "aphakia, congenital primary", "congenital absence of lens", "congenital aphakia"], "xref": ["DOID:0080607", "DOID:11367", "GARD:0009952", "ICD10CM:Q12.3", "ICD9:743.35", "MEDGEN:339935", "MESH:C537786", "MedDRA:10002947", "NCIT:C35172", "OMIM:610256", "Orphanet:83461", "SCTID:35387008", "UMLS:C1853230", "icd11.foundation:885383581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012457", "name": "Pyloric stenosis, infantile hypertrophic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IHPS2", "pyloric stenosis, infantile hypertrophic, 2"], "xref": ["MEDGEN:339934", "MESH:C565208", "OMIM:610260", "UMLS:C1853228"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.", "id": "MONDO:0012460", "name": "Autosomal recessive nonsyndromic hearing loss 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 67"], "xref": ["DOID:0110518", "GARD:0022624", "MEDGEN:343997", "MESH:C565207", "OMIM:610265", "UMLS:C1853223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012462", "name": "Autosomal recessive frontotemporal pachygyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021489", "MEDGEN:343995", "MESH:C538092", "OMIM:610279", "Orphanet:329329", "UMLS:C1853215"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.", "id": "MONDO:0012463", "name": "Retinitis pigmentosa 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP35", "SEMA4A retinitis pigmentosa", "retinitis pigmentosa 35", "retinitis pigmentosa caused by mutation in SEMA4A", "retinitis pigmentosa type 35"], "xref": ["DOID:0110357", "GARD:0010402", "MEDGEN:339931", "MESH:C565206", "OMIM:610282", "UMLS:C1853214"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.", "id": "MONDO:0012464", "name": "Cone-rod dystrophy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD10", "SEMA4A cone-rod dystrophy", "cone-rod dystrophy 10", "cone-rod dystrophy caused by mutation in SEMA4A", "cone-rod dystrophy type 10"], "xref": ["DOID:0111017", "GARD:0015477", "MEDGEN:337598", "MESH:C564597", "OMIM:610283", "UMLS:C1846529"]}
{"category": ["biolink:Disease"], "description": "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.", "id": "MONDO:0012465", "name": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PIGM-CDG"], "xref": ["GARD:0009965", "MEDGEN:1684821", "NANDO:1200983", "OMIM:610293", "Orphanet:83639", "SCTID:724344004", "UMLS:C5201145", "icd11.foundation:1811042875"]}
{"category": ["biolink:Disease"], "description": "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.", "id": "MONDO:0012467", "name": "Cold-induced sweating syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLCF1 cold-induced sweating syndrome", "cold-induced sweating syndrome 2", "cold-induced sweating syndrome caused by mutation in CLCF1", "cold-induced sweating syndrome type 2"], "xref": ["DOID:0080330", "GARD:0018277", "MEDGEN:342816", "MESH:C564791", "OMIM:610313", "UMLS:C1853198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012468", "name": "Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rhizomelic dysplasia, scoliosis, and retinitis pigmentosa"], "xref": ["MEDGEN:342815", "MESH:C537610", "OMIM:610319", "UMLS:C1853197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012469", "name": "Myopia 14", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP14", "myopia 14"], "xref": ["MEDGEN:343990", "MESH:C565202", "OMIM:610320", "UMLS:C1853196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012470", "name": "Prostate cancer, hereditary, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPC7", "prostate cancer, hereditary, 7"], "xref": ["GARD:0015478", "MEDGEN:377849", "MESH:C565201", "OMIM:610321", "UMLS:C1853195"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.", "id": "MONDO:0012471", "name": "Aicardi-goutieres syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 3", "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C", "Aicardi-Goutieres syndrome type 3", "RNASEH2C Aicardi-Goutieres syndrome"], "xref": ["GARD:0015479", "MEDGEN:324389", "MESH:C563683", "NANDO:2200895", "OMIM:610329", "UMLS:C1835916"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.", "id": "MONDO:0012472", "name": "Aicardi-goutieres syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 4", "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A", "Aicardi-Goutieres syndrome type 4", "RNASEH2A Aicardi-Goutieres syndrome"], "xref": ["GARD:0015480", "MEDGEN:332084", "MESH:C563681", "OMIM:610333", "UMLS:C1835912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012473", "name": "Right pulmonary artery, anomalous origin of, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["right pulmonary artery, anomalous origin of, familial"], "xref": ["MEDGEN:322780", "MESH:C535681", "OMIM:610338", "UMLS:C1835910"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.", "id": "MONDO:0012474", "name": "Autosomal dominant nocturnal frontal lobe epilepsy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy", "ENFL4", "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2", "autosomal dominant nocturnal frontal lobe epilepsy type 4", "epilepsy, nocturnal frontal lobe, type 4"], "xref": ["DOID:0060685", "DOID:0081119", "GARD:0015481", "MEDGEN:332082", "MESH:C563679", "OMIM:610353", "UMLS:C1835905"]}
{"category": ["biolink:Disease"], "description": "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.", "id": "MONDO:0012475", "name": "Cone dystrophy with supernormal rod response", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cone dystrophy with supernormal rod ERG", "cone dystrophy with supernormal rod electroretinogram", "cone dystrophy with supernormal rod response", "cone dystrophy with supernormal scotopic electroretinogram", "retinal cone dystrophy type 3B"], "xref": ["DOID:0081022", "GARD:0010649", "MEDGEN:332081", "MESH:C563678", "OMIM:610356", "Orphanet:209932", "SCTID:719455002", "UMLS:C1835897", "icd11.foundation:545671557"]}
{"category": ["biolink:Disease"], "description": "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.", "id": "MONDO:0012476", "name": "Hereditary spastic paraplegia 30", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF1A hereditary spastic paraplegia", "SPG30", "autosomal spastic paraplegia type 30", "hereditary spastic paraplegia caused by mutation in KIF1A", "hereditary spastic paraplegia type 30", "spastic paraplegia 30, autosomal dominant"], "xref": ["DOID:0110781", "GARD:0016942", "MEDGEN:1710020", "MESH:C563677", "Orphanet:101010", "SCTID:763377006", "UMLS:C5235139"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.", "id": "MONDO:0012477", "name": "Retinitis pigmentosa 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP33", "SNRNP200 retinitis pigmentosa", "retinitis pigmentosa 33", "retinitis pigmentosa caused by mutation in SNRNP200", "retinitis pigmentosa type 33"], "xref": ["DOID:0110366", "GARD:0010400", "MEDGEN:332080", "MESH:C563676", "OMIM:610359", "UMLS:C1835895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012478", "name": "Orofacial cleft 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OFC9", "orofacial cleft 9"], "xref": ["DOID:0080402", "MEDGEN:332079", "MESH:C563675", "OMIM:610361", "UMLS:C1835894"]}
{"category": ["biolink:Disease"], "description": "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.", "id": "MONDO:0012479", "name": "Congenital malabsorptive diarrhea 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEUROG3 congenital diarrhea", "NEUROG3 congenital diarrhoea", "congenital diarrhea caused by mutation in NEUROG3", "congenital diarrhoea caused by mutation in NEUROG3", "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells", "congenital malabsorptive diarrhea type 4", "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells", "congenital malabsorptive diarrhoea type 4", "enteric anendocrinosis"], "xref": ["DOID:0060779", "GARD:0016729", "MEDGEN:372151", "MESH:C563673", "OMIM:610370", "Orphanet:83620", "SCTID:722392003", "UMLS:C1835888", "icd11.foundation:302560695"]}
{"category": ["biolink:Disease"], "description": "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.", "id": "MONDO:0012480", "name": "Diabetes mellitus, transient neonatal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCC8 transient neonatal diabetes mellitus (disease)", "diabetes mellitus, transient neonatal 2", "diabetes mellitus, transient neonatal, 2", "diabetes mellitus, transient neonatal, type 2", "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8"], "xref": ["DOID:0061174", "GARD:0015482", "MEDGEN:372150", "MESH:C563672", "OMIM:610374", "SCTID:609580007", "UMLS:C1835887"]}
{"category": ["biolink:Disease"], "description": "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.", "id": "MONDO:0012481", "name": "Mevalonic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HIDS", "MKD", "MVA", "complete mevalonate kinase deficiency", "hyperimmunoglobulin D with periodic fever syndrome", "mevalonic aciduria"], "xref": ["DOID:0050452", "GARD:0003588", "MEDGEN:368373", "MedDRA:10072219", "NANDO:1200866", "NCIT:C84890", "OMIM:610377", "Orphanet:29", "SCTID:718558008", "UMLS:C1959626", "icd11.foundation:572875152"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.", "id": "MONDO:0012483", "name": "Cone-rod dystrophy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD11", "RAX2 cone-rod dystrophy", "cone-rod dystrophy 11", "cone-rod dystrophy caused by mutation in RAX2", "cone-rod dystrophy type 11"], "xref": ["DOID:0111018", "GARD:0015484", "MEDGEN:322767", "MESH:C563671", "OMIM:610381", "UMLS:C1835865"]}
{"category": ["biolink:Disease"], "description": "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0012484", "name": "Prosopagnosia, hereditary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hereditary prosopagnosia (disease)", "prosopagnosia, hereditary"], "xref": ["GARD:0010035", "MEDGEN:419809", "MESH:C537242", "OMIM:610382", "UMLS:C2931455"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.", "id": "MONDO:0012485", "name": "Autosomal recessive nonsyndromic hearing loss 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 68"], "xref": ["DOID:0110519", "GARD:0022625", "MEDGEN:324374", "MESH:C563669", "OMIM:610419", "UMLS:C1835854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012486", "name": "Preauricular tag, isolated, autosomal dominant, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["preauricular Tag, isolated, autosomal dominant, type 1", "preauricular tag, isolated, autosomal dominant, 1"], "xref": ["MEDGEN:369878", "MESH:C566904", "OMIM:610420", "UMLS:C1968893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012487", "name": "Alopecia-intellectual disability syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["alopecia-intellectual disability syndrome 2", "alopecia-mental retardation syndrome 2"], "xref": ["DOID:0080629", "GARD:0004291", "MEDGEN:372142", "MESH:C563668", "OMIM:610422", "UMLS:C1835852"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.", "id": "MONDO:0012489", "name": "Cataract 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYBA4 early-onset non-syndromic cataract", "CTRCT23", "cataract 23", "cataract type 23", "early-onset non-syndromic cataract caused by mutation in CRYBA4"], "xref": ["DOID:0110271", "GARD:0024869", "MEDGEN:814342", "OMIM:610425", "UMLS:C3808012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012490", "name": "Cone-rod synaptic disorder, congenital nonprogressive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cone-rod synaptic disorder, congenital nonprogressive"], "xref": ["GARD:0015485", "MEDGEN:874422", "OMIM:610427", "UMLS:C4041558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012491", "name": "Macroglobulinemia, waldenstrom, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare"], "synonym": ["WM2"], "xref": ["GARD:0015486", "MEDGEN:355856", "OMIM:610430", "UMLS:C1864876"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012494", "name": "Testicular microlithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["testicular microlithiasis", "testicular microlithiasis (disease)"], "xref": ["HP:0012215", "MEDGEN:355854", "MESH:C566478", "OMIM:610441", "UMLS:C1864873"]}
{"category": ["biolink:Disease"], "description": "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.", "id": "MONDO:0012495", "name": "Spondyloepimetaphyseal dysplasia, genevieve type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD, Geneviève type", "SEMDG", "spondyloepimetaphyseal dysplasia, Camera-Genevieve type", "spondyloepimetaphyseal dysplasia, Genevieve type"], "xref": ["DOID:0080576", "GARD:0010057", "MEDGEN:355314", "MESH:C535785", "OMIM:610442", "Orphanet:168454", "UMLS:C1864872", "icd11.foundation:1383217537"]}
{"category": ["biolink:Disease"], "description": "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.", "id": "MONDO:0012496", "name": "Koolen-de vries syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KANSL1-related intellectual disability syndrome", "KDVS", "KdVS", "Koolen de Vries syndrome", "Koolen-De Vries syndrome", "chromosome 17q21.31 deletion syndrome", "microdeletion 17q21.31 syndrome"], "xref": ["GARD:0010727", "MEDGEN:355853", "NORD:91169", "OMIM:610443", "Orphanet:96169", "UMLS:C1864871"]}
{"category": ["biolink:Disease"], "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.", "id": "MONDO:0012497", "name": "Congenital stationary night blindness autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNBAD3", "congenital stationary night blindness autosomal dominant type 3", "night blindness, congenital stationary, autosomal dominant type 3"], "xref": ["DOID:0110715", "GARD:0015487", "MEDGEN:355313", "MESH:C566475", "OMIM:610444", "UMLS:C1864870"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.", "id": "MONDO:0012498", "name": "Congenital stationary night blindness autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNBAD1", "RHO congenital stationary night blindness", "congenital stationary night blindness autosomal dominant type 1", "congenital stationary night blindness caused by mutation in RHO", "night blindness, congenital stationary, autosomal dominant type 1"], "xref": ["DOID:0110862", "GARD:0015488", "MEDGEN:355852", "MESH:C566474", "OMIM:610445", "UMLS:C1864869"]}
{"category": ["biolink:Disease"], "description": "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.", "id": "MONDO:0012500", "name": "Chilblain lupus 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TREX1 chilblain lupus", "chilblain lupus 1", "chilblain lupus caused by mutation in TREX1", "chilblain lupus type 1"], "xref": ["GARD:0018493", "MEDGEN:9822", "OMIM:610448", "UMLS:C0024145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012502", "name": "Normophosphatemic familial tumoral calcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["normophosphatemic familial tumoral calcinosis", "tumoral calcinosis, familial, normophosphatemic"], "xref": ["DOID:0080170", "GARD:0010878", "MEDGEN:355311", "MESH:C566473", "OMIM:610455", "Orphanet:306658", "UMLS:C1864861"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.", "id": "MONDO:0012503", "name": "Thiopurine s-methyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["TPMT deficiency", "inborn error of thiopurine S-methyltransferase activity", "inborn thiopurine S-methyltransferase activity disorder", "poor metabolism of thiopurines-1", "rare inborn error of thiopurine S-methyltransferase activity", "thiopurine S-methyltransferase deficiency"], "xref": ["DOID:0061004", "DOID:0080172", "GARD:0005173", "MEDGEN:83352", "MESH:C536512", "NCIT:C4389", "OMIM:610460", "Orphanet:3315", "SCTID:238012003", "UMLS:C0342801", "icd11.foundation:1916778396"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.", "id": "MONDO:0012504", "name": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CATSHL syndrome"], "xref": ["DOID:0111160", "GARD:0010012", "MEDGEN:355844", "MESH:C537975", "OMIM:610474", "Orphanet:85164", "UMLS:C1864852"]}
{"category": ["biolink:Disease"], "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.", "id": "MONDO:0012505", "name": "Pigmented nodular adrenocortical disease, primary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE11A primary pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary, 2", "pigmented nodular adrenocortical disease, primary, type 2", "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A"], "xref": ["DOID:0070547", "GARD:0015489", "MEDGEN:355843", "MESH:C566472", "OMIM:610475", "UMLS:C1864851"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.", "id": "MONDO:0012506", "name": "Arrhythmogenic right ventricular dysplasia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC11", "ARVD11", "DSC2 familial isolated arrhythmogenic right ventricular dysplasia", "arrhythmogenic right ventricular cardiomyopathy 11", "arrhythmogenic right ventricular dysplasia 11", "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair", "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair", "arrhythmogenic right ventricular dysplasia type 11", "arrhythmogenic right ventricular dysplasia, familial, type 11", "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2"], "xref": ["DOID:0110082", "GARD:0024870", "MEDGEN:351237", "MESH:C566471", "OMIM:610476", "UMLS:C1864850"]}
{"category": ["biolink:Disease"], "description": "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.", "id": "MONDO:0012507", "name": "Retinal cone dystrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CACNA2D4 cone dystrophy", "cone dystrophy caused by mutation in CACNA2D4", "retinal cone dystrophy 4", "retinal cone dystrophy type 4"], "xref": ["DOID:0081023", "GARD:0010650", "MEDGEN:355308", "MESH:C566470", "OMIM:610478", "UMLS:C1864849"]}
{"category": ["biolink:Disease"], "description": "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.", "id": "MONDO:0012508", "name": "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010011", "MEDGEN:351236", "MESH:C538055", "OMIM:610483", "Orphanet:83617", "SCTID:722281001", "UMLS:C1864848"]}
{"category": ["biolink:Disease"], "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.", "id": "MONDO:0012509", "name": "Pigmented nodular adrenocortical disease, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRKAR1A primary pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary, 1", "pigmented nodular adrenocortical disease, primary, type 1", "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A"], "xref": ["DOID:0070546", "GARD:0018620", "MEDGEN:400627", "MESH:C566469", "OMIM:610489", "UMLS:C1864846"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.", "id": "MONDO:0012510", "name": "Combined oxidative phosphorylation defect type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD2", "MRPS16 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in MRPS16", "combined oxidative phosphorylation deficiency type 2"], "xref": ["DOID:0111483", "GARD:0017232", "MEDGEN:400626", "MESH:C566468", "OMIM:610498", "Orphanet:254920", "SCTID:764943000", "UMLS:C1864843"]}
{"category": ["biolink:Disease"], "description": "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.", "id": "MONDO:0012511", "name": "Preterm premature rupture of the membranes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["PPROM", "preterm premature rupture of the membranes", "preterm premature rupture of the membranes, susceptibility to"], "xref": ["DOID:0111144", "MEDGEN:147582", "MESH:C563032", "NCIT:C92862", "OMIM:610504", "SCTID:312974005", "UMLS:C0729264"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.", "id": "MONDO:0012512", "name": "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TSFM combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in TSFM", "combined oxidative phosphorylation deficiency type 3", "fatal mitochondrial disease due to COXPD3"], "xref": ["DOID:0111486", "GARD:0017035", "MEDGEN:355842", "MESH:C566467", "OMIM:610505", "Orphanet:168566", "SCTID:720951008", "UMLS:C1864840"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.", "id": "MONDO:0012513", "name": "Maturity-onset diabetes of the young type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KLF11 maturity-onset diabetes of the young (disease)", "MODY7", "maturity-onset diabetes of the young (disease) caused by mutation in KLF11", "maturity-onset diabetes of the young, type VII"], "xref": ["DOID:0111106", "GARD:0010661", "MEDGEN:351232", "MESH:C566466", "OMIM:610508", "SCTID:609574004", "UMLS:C1864839"]}
{"category": ["biolink:Disease"], "description": "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.", "id": "MONDO:0012514", "name": "Hypomyelinating leukodystrophy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAM126A leukodystrophy", "HLD5", "hypomyelinating leukodystrophy type 5", "hypomyelination-congenital cataract syndrome", "leukodystrophy caused by mutation in FAM126A", "leukodystrophy, hypomyelinating, type 5"], "xref": ["DOID:0060793", "GARD:0011980", "ICD9:341.8", "MEDGEN:501134", "MESH:C567166", "NANDO:1200584", "NANDO:2201296", "OMIM:610532", "Orphanet:85163", "SCTID:702379005", "UMLS:C1864663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012515", "name": "Glaucoma 1, open angle, m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC1M", "JOAG1M", "glaucoma 1, open angle, M"], "xref": ["GARD:0018230", "MEDGEN:400584", "MESH:C566436", "OMIM:610535", "UMLS:C1864653"]}
{"category": ["biolink:Disease"], "description": "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.", "id": "MONDO:0012516", "name": "Mandibulofacial dysostosis-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MFDM syndrome", "mandibulofacial dysostosis with microcephaly", "mandibulofacial dysostosis, Guion-Almeida type", "mandibulofacial dysostosis-microcephaly syndrome"], "xref": ["DOID:0080196", "GARD:0010056", "MEDGEN:355264", "MESH:C537405", "OMIM:610536", "Orphanet:79113", "SCTID:711543008", "UMLS:C1864652"]}
{"category": ["biolink:Disease"], "description": "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.", "id": "MONDO:0012517", "name": "Gaucher disease due to saposin c deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease caused by mutation in PSAP", "PSAP Gaucher disease", "atypical Gaucher disease due to saposin C deficiency", "atypical Gaucher's disease due to saposin c deficiency"], "xref": ["DOID:0110961", "GARD:0012503", "MEDGEN:350479", "MESH:C566435", "OMIM:610539", "Orphanet:309252", "SCTID:1156792000", "UMLS:C1864651"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.", "id": "MONDO:0012518", "name": "Congenital myasthenic syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS12", "GFPT1 congenital myasthenic syndromes with glycosylation defect", "congenital myasthenic syndrome type 12", "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1", "myasthenia, congenital, 12, with tubular aggregates", "myasthenic syndrome, congenital, type 12"], "xref": ["DOID:0110660", "GARD:0018451", "MEDGEN:765249", "NCIT:C168997", "OMIM:610542", "UMLS:C3552335"]}
{"category": ["biolink:Disease"], "description": "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.", "id": "MONDO:0012519", "name": "Rubinstein-taybi syndrome due to 16p13.3 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010754", "MEDGEN:350477", "OMIM:610543", "Orphanet:353281", "UMLS:C1864648"]}
{"category": ["biolink:Disease"], "description": "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.", "id": "MONDO:0012520", "name": "Insulin-resistance syndrome type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism", "type A insulin resistance syndrome"], "xref": ["GARD:0003008", "MEDGEN:501111", "MESH:C562710", "NCIT:C131836", "OMIM:610549", "Orphanet:2297", "UMLS:C0342278", "icd11.foundation:343459534"]}
{"category": ["biolink:Disease"], "description": "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.", "id": "MONDO:0012521", "name": "Herpes simplex encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Encephalitis, Herpes Simplex", "HSE", "HSV encephalitis", "HSVE", "Herpes simplex meningo-encephalitis", "Herpes simplex neuroinvasion", "Simplexvirus caused infectious encephalitis", "Simplexvirus infectious encephalitis", "herpetic encephalitis"], "xref": ["GARD:0006649", "MEDGEN:75794", "MESH:D020803", "NANDO:2200772", "NCIT:C84762", "NORD:1087", "Orphanet:1930", "UMLS:C0276226", "icd11.foundation:320069644"]}
{"category": ["biolink:Disease"], "description": "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.", "id": "MONDO:0012522", "name": "Diabetes mellitus, transient neonatal, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNJ11 transient neonatal diabetes mellitus (disease)", "diabetes mellitus, transient neonatal 3", "diabetes mellitus, transient neonatal, 3", "diabetes mellitus, transient neonatal, type 3", "transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11"], "xref": ["DOID:0061172", "GARD:0015490", "MEDGEN:351177", "MESH:C566432", "OMIM:610582", "SCTID:609581006", "UMLS:C1864623"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.", "id": "MONDO:0012523", "name": "Retinitis pigmentosa 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRCD retinitis pigmentosa", "RP36", "retinitis pigmentosa 36", "retinitis pigmentosa caused by mutation in PRCD", "retinitis pigmentosa type 36"], "xref": ["DOID:0110405", "GARD:0010403", "MEDGEN:351175", "MESH:C566431", "OMIM:610599", "UMLS:C1864621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012524", "name": "Corticosterone methyloxidase type 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypoaldosteronism, congenital, due to CMO II deficiency"], "xref": ["GARD:0024871", "MEDGEN:483046", "OMIM:610600", "UMLS:C3463917"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.", "id": "MONDO:0012525", "name": "Leber congenital amaurosis 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA12", "Leber congenital amaurosis 12", "Leber congenital amaurosis caused by mutation in RD3", "Leber congenital amaurosis type 12", "RD3 Leber congenital amaurosis"], "xref": ["DOID:0110080", "GARD:0010489", "MEDGEN:347535", "MESH:C565697", "OMIM:610612", "UMLS:C1857743"]}
{"category": ["biolink:Disease"], "description": "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0012526", "name": "Hereditary angioedema type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["F12 hereditary angioedema", "HAE 3", "HAE-III", "angioedema, hereditary, 3", "hereditary angioedema caused by mutation in F12", "hereditary angioedema type 3", "hereditary angioneurotic edema type 3", "hereditary angioneurotic oedema type 3", "inherited estrogen-associated angioedema", "inherited estrogen-associated angioneurotic edema", "inherited estrogen-associated angioneurotic oedema", "inherited estrogen-dependent angioedema", "inherited estrogen-dependent angioneurotic edema", "inherited estrogen-dependent angioneurotic oedema"], "xref": ["DOID:0080940", "GARD:0016935", "ICD9:277.6", "MEDGEN:346653", "MESH:D056828", "OMIM:610618", "Orphanet:100054", "SCTID:427167008", "UMLS:C1857728"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.", "id": "MONDO:0012527", "name": "Cataract 11 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT11", "PITX3 early-onset non-syndromic cataract", "cataract 11, syndromic, autosomal recessive", "early-onset non-syndromic cataract caused by mutation in PITX3"], "xref": ["DOID:0110249", "GARD:0010228", "MEDGEN:351162", "MESH:C535344", "OMIM:610623", "UMLS:C1864567"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.", "id": "MONDO:0012528", "name": "Hypogonadotropic hypogonadism 4 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PROK2 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 4 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in PROK2"], "xref": ["DOID:0090077", "GARD:0010772", "MEDGEN:765257", "MESH:C565696", "OMIM:610628", "UMLS:C3552343"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.", "id": "MONDO:0012529", "name": "Diamond-blackfan anemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 3", "Diamond-Blackfan Anemia type 3", "Diamond-Blackfan anaemia caused by mutation in RPS24", "Diamond-Blackfan anemia 3", "Diamond-Blackfan anemia caused by mutation in RPS24", "RPS24 Diamond-Blackfan anaemia", "RPS24 Diamond-Blackfan anemia"], "xref": ["DOID:0111887", "GARD:0010241", "MEDGEN:387892", "MESH:C536355", "NCIT:C176912", "OMIM:610629", "UMLS:C1857719"]}
{"category": ["biolink:Disease"], "description": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.", "id": "MONDO:0012530", "name": "Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal", "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"], "xref": ["GARD:0016733", "MEDGEN:461281", "MESH:C567165", "OMIM:610644", "Orphanet:85112", "UMLS:C3149931"]}
{"category": ["biolink:Disease"], "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.", "id": "MONDO:0012531", "name": "Xeroderma pigmentosum group b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERCC3 xeroderma pigmentosum", "XP, Group B", "XP-B", "XPB", "XPBC", "xeroderma pigmentosum caused by mutation in ERCC3", "xeroderma pigmentosum group B", "xeroderma pigmentosum group type B", "xeroderma pigmentosum, complementation group type B", "xeroderma pigmentosum, group B"], "xref": ["DOID:0110850", "GARD:0005625", "MEDGEN:78643", "MESH:C562590", "NCIT:C3966", "OMIM:610651", "Orphanet:276252", "SCTID:1073003", "UMLS:C0268136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012532", "name": "Hereditary hemorrhagic telangiectasia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010615", "MEDGEN:341824", "MESH:C565691", "OMIM:610655", "UMLS:C1857688"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.", "id": "MONDO:0012534", "name": "Combined oxidative phosphorylation defect type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD4", "TUFM combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 4", "combined oxidative phosphorylation deficiency caused by mutation in TUFM", "combined oxidative phosphorylation deficiency type 4"], "xref": ["DOID:0111494", "GARD:0017233", "MEDGEN:387884", "MESH:C565690", "OMIM:610678", "Orphanet:254925", "SCTID:766876004", "UMLS:C1857682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012535", "name": "Holoprosencephaly, recurrent infections, and monocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["holoprosencephaly, recurrent infections, and monocytosis"], "xref": ["MEDGEN:343987", "MESH:C538328", "OMIM:610680", "UMLS:C1853187"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.", "id": "MONDO:0012536", "name": "Osteogenesis imperfecta type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRTAP osteogenesis imperfecta", "OI7", "osteogenesis imperfecta caused by mutation in CRTAP", "osteogenesis imperfecta type 7"], "xref": ["DOID:0110337", "GARD:0008701", "MEDGEN:343981", "OMIM:610682", "SCTID:254111008", "UMLS:C1853162"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012537", "name": "Split-hand/foot malformation with long bone deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHFLD2", "split-hand/foot malformation with long bone deficiency 2"], "xref": ["GARD:0015492", "MEDGEN:377841", "MESH:C565199", "OMIM:610685", "UMLS:C1853156"]}
{"category": ["biolink:Disease"], "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.", "id": "MONDO:0012538", "name": "Nemaline myopathy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CFL2 nemaline myopathy", "NEM7", "nemaline myopathy 7", "nemaline myopathy caused by mutation in CFL2", "nemaline myopathy type 7"], "xref": ["DOID:0110934", "GARD:0015493", "MEDGEN:343979", "MESH:C565198", "OMIM:610687", "UMLS:C1853154"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.", "id": "MONDO:0012539", "name": "Joubert syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS6", "Joubert syndrome 6", "Joubert syndrome caused by mutation in TMEM67", "Joubert syndrome type 6", "TMEM67 Joubert syndrome"], "xref": ["DOID:0111001", "GARD:0015494", "MEDGEN:342805", "MESH:C537689", "OMIM:610688", "UMLS:C1853153"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.", "id": "MONDO:0012540", "name": "Age related macular degeneration 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD4", "CFH age-related macular degeneration", "age related macular degeneration type 4", "age-related macular degeneration caused by mutation in CFH", "macular Degeneration, age-related, type 4"], "xref": ["DOID:0110017", "GARD:0024872", "MEDGEN:339914", "MESH:C565196", "OMIM:610698", "UMLS:C1853147"]}
{"category": ["biolink:Disease"], "description": "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.", "id": "MONDO:0012541", "name": "Deafness with labyrinthine aplasia, microtia, and microdontia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LAMM syndrome", "deafness with labyrinthine aplasia, microtia, and microdontia", "deafness, congenital with inner ear agenesis, microtia, and microdontia", "microdontia-type I microtia-deafness syndrome"], "xref": ["GARD:0010707", "ICD9:759.89", "MEDGEN:342803", "MESH:C565195", "OMIM:610706", "Orphanet:90024", "SCTID:702360007", "UMLS:C1853144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012543", "name": "Optic atrophy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPA5", "optic atrophy 5"], "xref": ["DOID:0111438", "GARD:0010201", "MEDGEN:377837", "MESH:C537126", "OMIM:610708", "UMLS:C1853139"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.", "id": "MONDO:0012544", "name": "Brachydactyly-syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachydactyly-syndactyly syndrome"], "xref": ["DOID:0050689", "GARD:0016821", "MEDGEN:377836", "MESH:C565193", "OMIM:610713", "Orphanet:93409", "UMLS:C1853137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012545", "name": "Neutral lipid storage myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NLSDM", "neutral lipid storage disease with myopathy without ichthyosis"], "xref": ["GARD:0010288", "MEDGEN:339913", "OMIM:610717", "Orphanet:98908", "SCTID:699315005", "UMLS:C1853136", "icd11.foundation:1512138529"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.", "id": "MONDO:0012546", "name": "Nephrotic syndrome, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PLCE1 nephrotic syndrome", "nephrotic syndrome caused by mutation in PLCE1", "nephrotic syndrome, type 3"], "xref": ["DOID:0080382", "GARD:0015495", "MEDGEN:377831", "OMIM:610725", "UMLS:C1853124"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.", "id": "MONDO:0012547", "name": "Noonan syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS4", "Noonan syndrome 4", "Noonan syndrome caused by mutation in SOS1", "Noonan syndrome type 4", "SOS1 Noonan syndrome"], "xref": ["DOID:0060582", "GARD:0010699", "MEDGEN:339908", "MESH:C548082", "NCIT:C176932", "OMIM:610733", "UMLS:C1853120"]}
{"category": ["biolink:Disease"], "description": "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.", "id": "MONDO:0012548", "name": "Kostmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["infantile agranulocytosis", "neutropenia, severe congenital 3, autosomal recessive", "severe congenital neutropenia type 3"], "xref": ["DOID:0112133", "GARD:0000302", "MEDGEN:1713491", "MESH:C537592", "NCIT:C166153", "OMIM:610738", "Orphanet:99749", "UMLS:C5235141", "icd11.foundation:421553273"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.", "id": "MONDO:0012549", "name": "Autosomal recessive ataxia, beauce type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCA1", "SCAR8", "autosomal recessive cerebellar ataxia type 1", "spinocerebellar ataxia, autosomal recessive type 8"], "xref": ["DOID:0111618", "GARD:0012234", "MEDGEN:343973", "OMIM:610743", "Orphanet:88644", "UMLS:C1853116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012550", "name": "Iris pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iris pattern"], "xref": ["MEDGEN:339907", "OMIM:610744", "UMLS:C1853115"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012551", "name": "Alopecia areata 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AA2", "alopecia areata 2"], "xref": ["GARD:0015496", "MEDGEN:343971", "MESH:C565186", "OMIM:610753", "UMLS:C1853104"]}
{"category": ["biolink:Disease"], "description": "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.", "id": "MONDO:0012552", "name": "Multiple endocrine neoplasia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["CDKN1B multiple endocrine neoplasia", "MEN4", "multiple endocrine neoplasia caused by mutation in CDKN1B", "multiple endocrine neoplasia type 4", "multiple endocrine neoplasia, type IV"], "xref": ["DOID:0080137", "GARD:0017275", "MEDGEN:373469", "MESH:C567059", "NCIT:C157449", "OMIM:610755", "Orphanet:276152", "SCTID:715907003", "UMLS:C1970712", "icd11.foundation:157945677"]}
{"category": ["biolink:Disease"], "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.", "id": "MONDO:0012553", "name": "Cerebrooculofacioskeletal syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFS syndrome caused by mutation in ERCC2", "COFS2", "ERCC2 COFS syndrome", "cerebrooculofacioskeletal syndrome 2", "cerebrooculofacioskeletal syndrome type 2"], "xref": ["DOID:0080912", "GARD:0015497", "MEDGEN:342799", "MESH:C565185", "OMIM:610756", "UMLS:C1853102"]}
{"category": ["biolink:Disease"], "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.", "id": "MONDO:0012554", "name": "Cerebrooculofacioskeletal syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFS syndrome caused by mutation in ERCC1", "COFS4", "ERCC1 COFS syndrome", "cerebrooculofacioskeletal syndrome 4", "cerebrooculofacioskeletal syndrome type 4"], "xref": ["DOID:0080914", "GARD:0015498", "MEDGEN:342798", "MESH:C565184", "NCIT:C173104", "OMIM:610758", "UMLS:C1853100"]}
{"category": ["biolink:Disease"], "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.", "id": "MONDO:0012555", "name": "Cornelia de lange syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cornelia De Lange syndrome type 3", "Cornelia de Lange syndrome 3", "Cornelia de Lange syndrome caused by mutation in SMC3", "Cornelia de Lange syndrome caused by mutation in Smc3", "SMC3 Cornelia de Lange syndrome", "Smc3 Cornelia de Lange syndrome"], "xref": ["DOID:0080507", "GARD:0015499", "MEDGEN:339902", "OMIM:610759", "UMLS:C1853099"]}
{"category": ["biolink:Disease"], "description": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.", "id": "MONDO:0012556", "name": "Dk1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Im", "CDG-Im", "CDG1M", "DK1-CDG", "DK1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Im", "congenital disorder of glycosylation type 1m", "congenital disorder of glycosylation type Im", "dolichol kinase deficiency", "hypotonia and ichthyosis due to dolichol phosphate deficiency"], "xref": ["DOID:0080565", "GARD:0012393", "MEDGEN:332072", "MESH:C563666", "OMIM:610768", "Orphanet:91131", "SCTID:718712005", "UMLS:C1835849"]}
{"category": ["biolink:Disease"], "description": "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.", "id": "MONDO:0012557", "name": "Cardiomyopathy-hypotonia-lactic acidosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome"], "xref": ["GARD:0016795", "MEDGEN:324373", "MESH:C563665", "OMIM:610773", "Orphanet:91130", "SCTID:718713000", "UMLS:C1835845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012558", "name": "Epiphyseal dysplasia, baumann type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epiphyseal dysplasia, Baumann type"], "xref": ["MEDGEN:322764", "MESH:C563664", "OMIM:610797", "UMLS:C1835830"]}
{"category": ["biolink:Disease"], "description": "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.", "id": "MONDO:0012559", "name": "Primary immunodeficiency syndrome due to p14 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["primary immunodeficiency syndrome due to LAMTOR2 deficiency", "primary immunodeficiency syndrome with short stature"], "xref": ["GARD:0016783", "MEDGEN:372135", "MESH:C563663", "NANDO:2200752", "OMIM:610798", "Orphanet:90023", "SCTID:718717004", "UMLS:C1835829", "icd11.foundation:813140844"]}
{"category": ["biolink:Disease"], "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.", "id": "MONDO:0012561", "name": "Congenital anomalies of kidney and urinary tract 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["CAKUT1", "DSTYK congenital anomaly of kidney and urinary tract", "congenital anomalies of kidney and urinary tract 1", "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK", "renal hypodysplasia, nonsyndromic, 1"], "xref": ["DOID:0080206", "GARD:0024873", "MEDGEN:322763", "MESH:C563661", "OMIM:610805", "UMLS:C1835826"]}
{"category": ["biolink:Disease"], "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.", "id": "MONDO:0012562", "name": "Holoprosencephaly 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE7", "PTCH1 holoprosencephaly", "holoprosencephaly 7", "holoprosencephaly caused by mutation in PTCH1", "holoprosencephaly type 7"], "xref": ["DOID:0110876", "GARD:0024874", "MEDGEN:372134", "MESH:C563660", "OMIM:610828", "UMLS:C1835820"]}
{"category": ["biolink:Disease"], "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.", "id": "MONDO:0012563", "name": "Holoprosencephaly 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GLI2 holoprosencephaly", "HPE9", "holoprosencephaly 9", "holoprosencephaly caused by mutation in GLI2", "holoprosencephaly type 9", "holoprosencephaly with microphthalmia and first branchial arch anomalies", "pituitary anomalies with holoprosencephaly-like features"], "xref": ["DOID:0110873", "GARD:0024875", "MEDGEN:324369", "OMIM:610829", "UMLS:C1835819"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012564", "name": "Polyosteolysis-hyperostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Polyosteolysis-hyperostosis syndrome"], "xref": ["MEDGEN:324368", "MESH:C563658", "OMIM:610830", "UMLS:C1835818"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", "id": "MONDO:0012565", "name": "Fanconi anemia complementation group n", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FANCN", "Fanconi Anemia, complementation group type N", "Fanconi anaemia caused by mutation in PALB2", "Fanconi anaemia complementation group type N", "Fanconi anemia caused by mutation in PALB2", "Fanconi anemia complementation group N", "Fanconi anemia complementation group type N", "PALB2 Fanconi anaemia", "PALB2 Fanconi anemia"], "xref": ["DOID:0111094", "GARD:0015500", "MEDGEN:372133", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012569", "name": "Mitral valve prolapse, myxomatous 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MMVP3", "mitral valve prolapse, myxomatous 3"], "xref": ["GARD:0015501", "MEDGEN:372132", "MESH:C563655", "OMIM:610840", "UMLS:C1835814"]}
{"category": ["biolink:Disease"], "description": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.", "id": "MONDO:0012570", "name": "Body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PXE-like syndrome", "pseudoxanthoma elasticum-like syndrome"], "xref": ["GARD:0016796", "MEDGEN:332067", "MESH:C563654", "OMIM:610842", "Orphanet:91135", "SCTID:717941005", "UMLS:C1835813"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.", "id": "MONDO:0012571", "name": "Primary ciliary dyskinesia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD6", "NME8 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 6", "primary ciliary dyskinesia caused by mutation in NME8", "primary ciliary dyskinesia type 6"], "xref": ["DOID:0110606", "GARD:0015502", "MEDGEN:370930", "MESH:C567057", "OMIM:610852", "UMLS:C1970506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012572", "name": "Sakoda complex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sakoda complex"], "xref": ["MEDGEN:370271", "MESH:C567055", "OMIM:610871", "UMLS:C1970485"]}
{"category": ["biolink:Disease"], "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.", "id": "MONDO:0012573", "name": "Vesicoureteral reflux 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ROBO2 vesicoureteral reflux (disease)", "vesicoureteral reflux (disease) caused by mutation in ROBO2", "vesicoureteral reflux 2", "vesicoureteral reflux type 2"], "xref": ["GARD:0018419", "MEDGEN:370270", "MESH:C567053", "OMIM:610878", "UMLS:C1970483"]}
{"category": ["biolink:Disease"], "description": "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.", "id": "MONDO:0012574", "name": "Potocki-lupski syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17p11.2 Duplication syndrome", "17p11.2 microduplication syndrome", "Potocki-Lupski syndrome", "Potocki-Lupski syndrome, Isolated cases", "chromosome 17p11.2 duplication syndrome", "trisomy 17p11.2"], "xref": ["DECIPHER:19", "DOID:0060853", "GARD:0010145", "MEDGEN:444010", "NCIT:C124846", "OMIM:610883", "Orphanet:1713", "SCTID:734016004", "UMLS:C2931246", "icd11.foundation:1720095972"]}
{"category": ["biolink:Disease"], "description": "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.", "id": "MONDO:0012575", "name": "Branchiootorenal syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SIX5 branchio-oto-renal syndrome", "branchio-oto-renal syndrome caused by mutation in SIX5", "branchiootorenal syndrome 2", "branchiootorenal syndrome type 2"], "xref": ["DOID:0111424", "GARD:0015503", "MEDGEN:410081", "OMIM:610896", "UMLS:C1970479"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012576", "name": "Supranuclear palsy, progressive, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PSNP3", "supranuclear palsy, progressive, 3"], "xref": ["GARD:0018345", "MEDGEN:370922", "MESH:C567050", "OMIM:610898", "UMLS:C1970476"]}
{"category": ["biolink:Disease"], "description": "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).", "id": "MONDO:0012579", "name": "Autoimmune pulmonary alveolar proteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APAP", "autoimmune PAP", "iPAP", "idiopathic PAP", "idiopathic pulmonary alveolar proteinosis"], "xref": ["GARD:0007499", "MEDGEN:410079", "MESH:C567049", "NANDO:1200747", "NANDO:1200748", "NORD:1633", "OMIM:610910", "Orphanet:747", "SCTID:707443007", "UMLS:C1970472", "icd11.foundation:676409940"]}
{"category": ["biolink:Disease"], "description": "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.", "id": "MONDO:0012580", "name": "Hereditary pulmonary alveolar proteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital PAP", "congenital pulmonary alveolar proteinosis", "hereditary pulmonary alveolar proteinosis", "inborn error of pulmonary surfactant metabolism", "inborn error of surfactant metabolism"], "xref": ["GARD:0004582", "MEDGEN:777976", "MESH:C535832", "NANDO:1200746", "NANDO:1200750", "NANDO:2200200", "OMIMPS:265120", "Orphanet:264675", "SCTID:707442002", "UMLS:C3711368"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.", "id": "MONDO:0012581", "name": "Osteogenesis imperfecta type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI8", "P3H1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in P3H1", "osteogenesis imperfecta type 8"], "xref": ["DOID:0110336", "GARD:0010152", "MEDGEN:410075", "MESH:C536049", "OMIM:610915", "UMLS:C1970458"]}
{"category": ["biolink:Disease"], "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.", "id": "MONDO:0012582", "name": "Interstitial lung disease due to abca3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["interstitial lung disease due to ABCA3 deficiency", "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency", "surfactant metabolism dysfunction, pulmonary, type 3"], "xref": ["GARD:0017745", "MEDGEN:410074", "MESH:C567046", "OMIM:610921", "Orphanet:440402", "UMLS:C1970456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012583", "name": "Tooth agenesis, selective, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STHAG5", "tooth agenesis, selective, 5"], "xref": ["GARD:0018248", "MEDGEN:346764", "MESH:C565757", "OMIM:610926", "UMLS:C1858210"]}
{"category": ["biolink:Disease"], "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.", "id": "MONDO:0012586", "name": "Coronary artery disease, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["LRP6 coronary artery disease", "coronary artery disease caused by mutation in LRP6", "coronary artery disease, autosomal dominant 2", "coronary artery disease, autosomal dominant type 2", "coronary artery disease, autosomal dominant, 2"], "xref": ["MEDGEN:370259", "MESH:C567045", "OMIM:610947", "UMLS:C1970440"]}
{"category": ["biolink:Disease"], "description": "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.", "id": "MONDO:0012588", "name": "Neuronal ceroid lipofuscinosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN7", "MFSD8 neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 7", "neuronal ceroid lipofuscinosis 7", "neuronal ceroid lipofuscinosis caused by mutation in MFSD8", "neuronal ceroid lipofuscinosis type 7"], "xref": ["DOID:0110722", "GARD:0001220", "MEDGEN:325457", "MESH:C563989", "OMIM:610951", "Orphanet:228366", "UMLS:C1838571"]}
{"category": ["biolink:Disease"], "description": "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.", "id": "MONDO:0012589", "name": "Pitt-hopkins syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pitt-Hopkins syndrome"], "xref": ["DOID:0060488", "GARD:0004372", "ICD9:758.5", "MEDGEN:370910", "MESH:C537403", "NCIT:C129872", "NORD:1921", "OMIM:610954", "Orphanet:2896", "SCTID:702344008", "UMLS:C1970431", "icd11.foundation:2040786134"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.", "id": "MONDO:0012590", "name": "Xfe progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["XFE progeroid syndrome", "XFEPS", "XPF-ERCC1 progeroid syndrome"], "xref": ["DOID:0060590", "GARD:0027814", "MEDGEN:410064", "MESH:C567043", "NCIT:C173111", "OMIM:610965", "UMLS:C1970416"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).", "id": "MONDO:0012591", "name": "Osteogenesis imperfecta type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["IFITM5 osteogenesis imperfecta", "OI type 5", "OI5", "osteogenesis imperfecta caused by mutation in IFITM5"], "xref": ["DOID:0110344", "GARD:0008699", "MEDGEN:419332", "MESH:C567042", "OMIM:610967", "Orphanet:216828", "UMLS:C2931093", "icd11.foundation:1718903422"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.", "id": "MONDO:0012592", "name": "Osteogenesis imperfecta type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FKBP10 osteogenesis imperfecta", "OI11", "osteogenesis imperfecta caused by mutation in FKBP10"], "xref": ["DOID:0110351", "GARD:0012875", "MEDGEN:462568", "OMIM:610968", "UMLS:C3151218"]}
{"category": ["biolink:Disease"], "description": "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).", "id": "MONDO:0012593", "name": "Brain-lung-thyroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain-lung-thyroid syndrome", "choreoathetosis, hypothyroidism, and neonatal respiratory distress", "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome"], "xref": ["GARD:0012163", "MEDGEN:369694", "MESH:C567034", "OMIM:610978", "Orphanet:209905", "SCTID:719098007", "UMLS:C1970269", "icd11.foundation:809856670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012594", "name": "Complement factor i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C3 inactivator deficiency", "complement component 3 inactivator deficiency", "complement factor I deficiency"], "xref": ["DOID:0050419", "GARD:0017098", "MEDGEN:483045", "MESH:C572568", "NANDO:2200790", "NANDO:2200798", "OMIM:610984", "Orphanet:200418", "UMLS:C3463916"]}
{"category": ["biolink:Disease"], "description": "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.", "id": "MONDO:0012596", "name": "Psat deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSAT deficiency", "phosphoserine aminotransferase deficiency"], "xref": ["DOID:0050723", "GARD:0013273", "MEDGEN:410026", "MESH:C567032", "OMIM:610992", "Orphanet:284417", "SCTID:718603002", "UMLS:C1970253"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012597", "name": "Prostate cancer, hereditary, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["prostate cancer, hereditary, 9", "prostate cancer, hereditary, type 9"], "xref": ["GARD:0015505", "MEDGEN:369689", "MESH:C567031", "OMIM:610997", "UMLS:C1970250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012598", "name": "Fibromatosis, gingival, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GINGF4", "fibromatosis, gingival, 4"], "xref": ["GARD:0002475", "MEDGEN:370209", "MESH:C567028", "OMIM:611010", "UMLS:C1970245"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.", "id": "MONDO:0012602", "name": "Autosomal recessive nonsyndromic hearing loss 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 24"], "xref": ["DOID:0110482", "GARD:0022626", "MEDGEN:370208", "MESH:C567027", "OMIM:611022", "UMLS:C1970239"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.", "id": "MONDO:0012603", "name": "Episodic kinesigenic dyskinesia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["episodic kinesigenic dyskinesia 2", "episodic kinesigenic dyskinesia type 2"], "xref": ["DOID:0090054", "GARD:0015506", "MEDGEN:410022", "MESH:C567026", "NANDO:1200532", "OMIM:611031", "UMLS:C1970238"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.", "id": "MONDO:0012604", "name": "Isolated microphthalmia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOP3", "RAX isolated microphthalmia", "isolated microphthalmia 3", "isolated microphthalmia caused by mutation in RAX", "isolated microphthalmia caused by mutation in rax", "isolated microphthalmia type 3", "microphthalmia, isolated type 3", "rax isolated microphthalmia"], "xref": ["DOID:0060842", "GARD:0024876", "MEDGEN:1823955", "MESH:C567025", "OMIM:611038", "UMLS:C5774181"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.", "id": "MONDO:0012605", "name": "Isolated microphthalmia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOP5", "MFRP isolated microphthalmia", "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome", "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome", "isolated microphthalmia 5", "isolated microphthalmia caused by mutation in MFRP", "isolated microphthalmia type 5", "microphthalmia, isolated type 5", "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome", "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome", "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen"], "xref": ["DOID:0060837", "GARD:0017205", "MEDGEN:410021", "MESH:C567024", "OMIM:611040", "Orphanet:251279", "UMLS:C1970236"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.", "id": "MONDO:0012608", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSMA4", "autosomal recessive distal spinal muscular atrophy type 4", "autosomal recessive lower motor neuron disease with childhood onset", "dSMA4", "distal spinal muscular atrophy type 4", "neuronopathy, distal hereditary motor, autosomal recessive 4", "spinal muscular atrophy, distal, autosomal recessive, type 4"], "xref": ["DOID:0111213", "GARD:0017101", "MEDGEN:369682", "MESH:C567023", "OMIM:611067", "Orphanet:206580", "UMLS:C1970211"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.", "id": "MONDO:0012609", "name": "Alzheimer disease 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD12", "Alzheimer disease 12", "Alzheimer disease type 12", "Alzheimer's disease 12", "Alzheimer's disease type 12"], "xref": ["DOID:0110045", "GARD:0016516", "MEDGEN:410013", "MESH:C567022", "OMIM:611073", "UMLS:C1970209"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.", "id": "MONDO:0012610", "name": "Inflammatory bowel disease 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["ATG16L1 inflammatory bowel disease", "IBD10", "inflammatory bowel disease (Crohn disease) 10", "inflammatory bowel disease 10", "inflammatory bowel disease caused by mutation in ATG16L1", "inflammatory bowel disease type 10"], "xref": ["DOID:0110885", "MEDGEN:370205", "MESH:C567021", "OMIM:611081", "UMLS:C1970207"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.", "id": "MONDO:0012611", "name": "PMSE syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PMSE syndrome", "polyhydramnios, megalencephaly, and symptomatic epilepsy"], "xref": ["DOID:0070511", "GARD:0012913", "MEDGEN:370203", "MESH:C567020", "OMIM:611087", "Orphanet:500533", "UMLS:C1970203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012612", "name": "Intellectual disability, autosomal recessive 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, autosomal recessive 12", "intellectual disability, autosomal recessive 12", "intellectual disability, autosomal recessive type 12", "mental retardation, autosomal recessive type 12"], "xref": ["DOID:0081180", "GARD:0022540", "MEDGEN:370850", "MESH:C567019", "OMIM:611090", "UMLS:C1970200"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.", "id": "MONDO:0012613", "name": "Intellectual disability, autosomal recessive 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NSUN2 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2", "intellectual disability, autosomal recessive 5", "intellectual disability, autosomal recessive type 5", "mental retardation, autosomal recessive type 5"], "xref": ["DOID:0081181", "GARD:0022541", "MEDGEN:370849", "MESH:C567018", "OMIM:611091", "UMLS:C1970199"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.", "id": "MONDO:0012614", "name": "Intellectual disability, autosomal recessive 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GRIK2 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2", "intellectual developmental disorder, autosomal recessive 6", "intellectual disability, autosomal recessive 6", "intellectual disability, autosomal recessive type 6", "mental retardation, autosomal recessive type 6"], "xref": ["DOID:0081182", "GARD:0022542", "MEDGEN:370848", "MESH:C567017", "OMIM:611092", "UMLS:C1970198"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.", "id": "MONDO:0012615", "name": "Intellectual disability, autosomal recessive 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TUSC3 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3", "intellectual disability, autosomal recessive 7", "intellectual disability, autosomal recessive type 7", "mental retardation, autosomal recessive type 7"], "xref": ["DOID:0081183", "GARD:0022543", "MEDGEN:370847", "MESH:C567016", "OMIM:611093", "UMLS:C1970197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012617", "name": "Intellectual disability, autosomal recessive 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT9", "intellectual disability, autosomal recessive 9", "mental retardation, autosomal recessive, 9/26"], "xref": ["DOID:0081184", "GARD:0022544", "MEDGEN:369678", "MESH:C567014", "OMIM:611095", "UMLS:C1970195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012618", "name": "Intellectual disability, autosomal recessive 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT10", "intellectual disability, autosomal recessive 10", "mental retardation, autosomal recessive 10/20"], "xref": ["DOID:0081185", "GARD:0022545", "MEDGEN:410010", "MESH:C567013", "OMIM:611096", "UMLS:C1970194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012619", "name": "Intellectual disability, autosomal recessive 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT11", "intellectual disability, autosomal recessive 11", "mental retardation, autosomal recessive, 11"], "xref": ["DOID:0081186", "GARD:0022546", "MEDGEN:369677", "MESH:C567012", "OMIM:611097", "UMLS:C1970193"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012620", "name": "Prostate cancer, hereditary, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPC10", "prostate cancer, hereditary, 10"], "xref": ["GARD:0015507", "MEDGEN:370202", "MESH:C567011", "OMIM:611100", "UMLS:C1970192"]}
{"category": ["biolink:Disease"], "description": "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.", "id": "MONDO:0012621", "name": "Deafness-infertility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIS", "deafness and male infertility", "deafness-infertility syndrome", "dis"], "xref": ["GARD:0011911", "ICD9:758.39", "MEDGEN:370197", "MESH:C567010", "OMIM:611102", "Orphanet:94064", "SCTID:700489002", "UMLS:C1970187", "icd11.foundation:1430704280"]}
{"category": ["biolink:Disease"], "description": "This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.", "id": "MONDO:0012622", "name": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LBSL", "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation", "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome"], "xref": ["GARD:0012652", "MEDGEN:370845", "MESH:C567009", "NORD:1941", "OMIM:611105", "Orphanet:137898", "SCTID:703537008", "UMLS:C1970180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012623", "name": "Intellectual disability, autosomal recessive 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT4", "intellectual disability, autosomal recessive 4", "mental retardation, autosomal recessive, 4"], "xref": ["DOID:0081187", "GARD:0022547", "MEDGEN:370844", "MESH:C567008", "OMIM:611107", "UMLS:C1970179"]}
{"category": ["biolink:Disease"], "description": "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.", "id": "MONDO:0012624", "name": "Acyl-coa dehydrogenase 9 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACAD9 deficiency", "acyl-CoA dehydrogenase 9 deficiency", "mitochondrial complex I deficiency due to ACAD9 deficiency", "mitochondrial complex I deficiency, nuclear type 20"], "xref": ["DOID:0112072", "GARD:0012986", "MEDGEN:1648400", "MESH:C567006", "OMIM:611126", "Orphanet:99901", "SCTID:725046003", "UMLS:C4747517"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.", "id": "MONDO:0012625", "name": "Retinitis pigmentosa 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NR2E3 retinitis pigmentosa", "RP37", "retinitis pigmentosa 37", "retinitis pigmentosa caused by mutation in NR2E3", "retinitis pigmentosa type 37"], "xref": ["DOID:0110399", "GARD:0015508", "MEDGEN:410004", "MESH:C567005", "OMIM:611131", "UMLS:C1970163"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.", "id": "MONDO:0012626", "name": "Meckel syndrome, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP290 Meckel syndrome", "MKS4", "Meckel syndrome caused by mutation in CEP290", "Meckel syndrome, type 4", "Meckel-Gruber syndrome, type 4"], "xref": ["DOID:0070118", "GARD:0015509", "MEDGEN:410003", "OMIM:611134", "UMLS:C1970161"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.", "id": "MONDO:0012629", "name": "Paroxysmal nonkinesigenic dyskinesia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["paroxysmal nonkinesigenic dyskinesia 2", "paroxysmal nonkinesigenic dyskinesia type 2"], "xref": ["DOID:0090047", "GARD:0015510", "MEDGEN:370188", "MESH:C567001", "NANDO:1200533", "OMIM:611147", "UMLS:C1970149"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.", "id": "MONDO:0012630", "name": "Alzheimer disease 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD13", "Alzheimer disease 13", "Alzheimer disease-13", "Alzheimer's disease 13", "Alzheimer's disease type 13"], "xref": ["DOID:0110046", "GARD:0016517", "MEDGEN:370835", "MESH:C567000", "OMIM:611152", "UMLS:C1970147"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.", "id": "MONDO:0012631", "name": "Alzheimer disease 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD14", "Alzheimer disease 14", "Alzheimer disease-14", "Alzheimer's disease 14", "Alzheimer's disease type 14"], "xref": ["DOID:0110047", "GARD:0016518", "MEDGEN:369666", "MESH:C566999", "OMIM:611154", "UMLS:C1970144"]}
{"category": ["biolink:Disease"], "description": "A disorder of development or morphogenesis caused by a variation in the IRX5 gene and characterized by craniofacial dysmorphism, including high-severity hypertelorism, severe myopia, upslanting palpebral fissures, brachycephaly, atypical ears, sloping shoulders, enamel hypoplasia, osteopenia with chronic fractures, sensorineural hearing loss, and intellectual disability/borderline intelligence.", "id": "MONDO:0012634", "name": "Craniofacial dysplasia - osteopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hamamy syndrome", "IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies"], "xref": ["GARD:0017422", "MEDGEN:370148", "MESH:C566988", "OMIM:611174", "Orphanet:314555", "UMLS:C1970027"]}
{"category": ["biolink:Disease"], "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.", "id": "MONDO:0012635", "name": "Cog8-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIh", "CDG-IIh", "CDG2H", "COG8-CDG", "COG8-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIh", "congenital disorder of glycosylation type 2h", "congenital disorder of glycosylation type IIh"], "xref": ["DOID:0070260", "GARD:0012411", "MEDGEN:409971", "MESH:C566987", "OMIM:611182", "Orphanet:95428", "SCTID:717774004", "UMLS:C1970021"]}
{"category": ["biolink:Disease"], "description": "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.", "id": "MONDO:0012637", "name": "Cog1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIg", "CDG-IIg", "CDG2G", "COG1-CDG", "COG1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIg", "congenital disorder of glycosylation type 2g", "congenital disorder of glycosylation type IIg"], "xref": ["DOID:0070259", "GARD:0010226", "MEDGEN:443957", "MESH:C535756", "OMIM:611209", "Orphanet:263508", "SCTID:718750004", "UMLS:C2931011"]}
{"category": ["biolink:Disease"], "description": "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.", "id": "MONDO:0012638", "name": "Microphthalmia-brain atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCOPS10", "MOBA syndrome", "syndromic microphthalmia type 10"], "xref": ["DOID:0111812", "GARD:0009292", "MEDGEN:370809", "MESH:C566985", "OMIM:611222", "Orphanet:77299", "SCTID:720010009", "UMLS:C1970013"]}
{"category": ["biolink:Disease"], "description": "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.", "id": "MONDO:0012639", "name": "Hereditary spastic paraplegia 18", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERLIN2 autosomal recessive complex spastic paraplegia", "SPG18", "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2", "autosomal recessive spastic paraplegia 18", "autosomal recessive spastic paraplegia type 18", "hereditary spastic paraplegia type 18", "intellectual disability, motor dysfunction and joint contractures"], "xref": ["DOID:0110771", "GARD:0004922", "MEDGEN:442343", "MESH:C567628", "Orphanet:209951", "SCTID:732932004", "UMLS:C2749936"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.", "id": "MONDO:0012640", "name": "Charcot-marie-tooth disease type 4j", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4J", "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4", "FIG4 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110184", "GARD:0012443", "MEDGEN:370808", "MESH:C566984", "NCIT:C134954", "OMIM:611228", "Orphanet:139515", "SCTID:720638000", "UMLS:C1970011", "icd11.foundation:905681283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012642", "name": "Major affective disorder 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD4", "major affective disorder 4"], "xref": ["MEDGEN:372671", "MESH:C567073", "OMIM:611247", "UMLS:C1970943"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.", "id": "MONDO:0012643", "name": "Hereditary spastic paraplegia 32", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG32", "autosomal recessive spastic paraplegia type 32", "hereditary spastic paraplegia type 32"], "xref": ["DOID:0110783", "GARD:0012749", "MEDGEN:409967", "MESH:C566983", "OMIM:611252", "Orphanet:171622", "SCTID:726606003", "UMLS:C1970009"]}
{"category": ["biolink:Disease"], "description": "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.", "id": "MONDO:0012644", "name": "Asphyxiating thoracic dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATD2", "IFT80 Jeune syndrome", "Jeune syndrome caused by mutation in IFT80", "SRTD2", "asphyxiating thoracic dystrophy 2", "asphyxiating thoracic dystrophy type 2", "short-rib thoracic dysplasia 2 with or without polydactyly"], "xref": ["DOID:0110086", "GARD:0015511", "MEDGEN:370804", "MESH:C566982", "OMIM:611263", "UMLS:C1970005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012645", "name": "Glaucoma 1, open angle, n", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC1N", "JOAG1N", "glaucoma 1, open angle, N"], "xref": ["GARD:0018231", "MEDGEN:370756", "MESH:C566977", "OMIM:611274", "UMLS:C1969812"]}
{"category": ["biolink:Disease"], "description": "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).", "id": "MONDO:0012648", "name": "Isobutyryl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isobutyric aciduria", "isobutyryl-CoA dehydrogenase deficiency"], "xref": ["GARD:0010223", "MEDGEN:370754", "MESH:C535541", "NCIT:C129975", "OMIM:611283", "Orphanet:79159", "UMLS:C1969809"]}
{"category": ["biolink:Disease"], "description": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.", "id": "MONDO:0012650", "name": "Cernunnos-xlf deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cernunnos XLFD", "Cernunnos deficiency", "Cernunnos-XLF deficiency", "NHEJ1 deficiency", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome"], "xref": ["DOID:0061090", "GARD:0017045", "MEDGEN:369590", "MESH:C566970", "OMIM:611291", "Orphanet:169079", "SCTID:720853005", "UMLS:C1969799"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.", "id": "MONDO:0012651", "name": "Spastic ataxia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF1C spastic ataxia", "SPAX2", "SPG58", "autosomal recessive spastic ataxia type 2", "spastic ataxia 2", "spastic ataxia caused by mutation in KIF1C", "spastic ataxia type 2"], "xref": ["DOID:0050941", "GARD:0017644", "MEDGEN:370750", "MESH:C566969", "OMIM:611302", "Orphanet:397946", "UMLS:C1969796"]}
{"category": ["biolink:Disease"], "description": "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.", "id": "MONDO:0012652", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2l", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANO5 autosomal recessive limb-girdle muscular dystrophy", "LGMD2L", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5", "muscular dystrophy, limb-girdle, autosomal recessive 12", "muscular dystrophy, limb-girdle, type 2L"], "xref": ["DOID:0110284", "GARD:0012536", "MEDGEN:370102", "MESH:C566968", "OMIM:611307", "Orphanet:206549", "UMLS:C1969785"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012653", "name": "Persistent hyperplastic primary vitreous, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PHPVAD", "persistent hyperplastic primary vitreous, autosomal dominant"], "xref": ["GARD:0018168", "MEDGEN:370101", "OMIM:611308", "UMLS:C1969784"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.", "id": "MONDO:0012654", "name": "Atrial septal defect 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD4", "TBX20 atrial heart septal defect", "atrial heart septal defect caused by mutation in TBX20", "atrial heart septal defect type 4", "atrial septal defect 4", "atrial septal defect type 4"], "xref": ["DOID:0110109", "GARD:0015512", "MEDGEN:369556", "MESH:C566963", "OMIM:611363", "UMLS:C1969657"]}
{"category": ["biolink:Disease"], "description": "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.", "id": "MONDO:0012656", "name": "Lethal congenital contracture syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCCS3", "PIP5K1C lethal congenital contracture syndrome", "lethal congenital contractural syndrome 3", "lethal congenital contracture syndrome 3", "lethal congenital contracture syndrome caused by mutation in PIP5K1C", "lethal congenital contracture syndrome type 3"], "xref": ["DOID:0060653", "GARD:0012644", "MEDGEN:369555", "MESH:C566961", "OMIM:611369", "Orphanet:137783", "SCTID:715420005", "UMLS:C1969655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012657", "name": "Mungan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MGS", "MUNGAN syndrome"], "xref": ["MEDGEN:369554", "MESH:C548078", "OMIM:611376", "UMLS:C1969653"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.", "id": "MONDO:0012658", "name": "Brachydactyly type b2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BDB2"], "xref": ["DOID:0110975", "GARD:0016963", "MEDGEN:409880", "OMIM:611377", "Orphanet:140908", "SCTID:770406002", "UMLS:C1969652", "icd11.foundation:891810441"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.", "id": "MONDO:0012659", "name": "Age related macular degeneration 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD9", "C3 age-related macular degeneration", "age related macular degeneration type 9", "age-related macular degeneration caused by mutation in C3", "macular Degeneration, age-related, type 9"], "xref": ["DOID:0110021", "GARD:0024877", "MEDGEN:370717", "MESH:C566958", "OMIM:611378", "UMLS:C1969651"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.", "id": "MONDO:0012662", "name": "Usher syndrome type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["USH2D", "Usher syndrome caused by mutation in WHRN", "Usher syndrome type 2D", "WHRN Usher syndrome"], "xref": ["DOID:0110840", "GARD:0015514", "MEDGEN:292821", "OMIM:611383", "UMLS:C1568249"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.", "id": "MONDO:0012664", "name": "Spastic ataxia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARSAL", "MARS2 autosomal recessive spastic ataxia", "SPAX3", "autosomal recessive spastic ataxia caused by mutation in MARS2", "autosomal recessive spastic ataxia type 3", "spastic ataxia type 3"], "xref": ["DOID:0050942", "GARD:0017425", "MEDGEN:370715", "MESH:C566956", "OMIM:611390", "Orphanet:314603", "UMLS:C1969645"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.", "id": "MONDO:0012665", "name": "Cataract 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BFSP1 early-onset non-syndromic cataract", "CTRCT33", "cataract 33", "cataract type 33", "early-onset non-syndromic cataract caused by mutation in BFSP1"], "xref": ["DOID:0110264", "GARD:0018236", "MEDGEN:814437", "MESH:C566955", "OMIM:611391", "Orphanet:217046", "Orphanet:217052", "UMLS:C3808107"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.", "id": "MONDO:0012667", "name": "Dilated cardiomyopathy 1w", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1W", "VCL familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1W", "dilated cardiomyopathy type 1W", "familial isolated dilated cardiomyopathy caused by mutation in VCL"], "xref": ["DOID:0110446", "GARD:0015515", "MEDGEN:370063", "MESH:C566954", "OMIM:611407", "UMLS:C1969639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012668", "name": "Tented eyebrows", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Tented eyebrows"], "xref": ["MEDGEN:370710", "OMIM:611426", "UMLS:C1969624"]}
{"category": ["biolink:Disease"], "description": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.", "id": "MONDO:0012669", "name": "Legius syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Legius syndrome", "NF1-like syndrome", "neurofibromatosis 1-like syndrome"], "xref": ["DOID:0070484", "GARD:0010714", "ICD9:709.09", "MEDGEN:370709", "MESH:C548032", "NCIT:C176941", "OMIM:611431", "Orphanet:137605", "SCTID:703541007", "UMLS:C1969623", "icd11.foundation:1025118245"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.", "id": "MONDO:0012670", "name": "Autosomal recessive nonsyndromic hearing loss 63", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 63"], "xref": ["DOID:0110515", "GARD:0022627", "MEDGEN:409872", "MESH:C566951", "OMIM:611451", "UMLS:C1969621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012671", "name": "Tremor, hereditary essential, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ETM3", "essential tremor, hereditary, 3", "tremor, hereditary essential, 3"], "xref": ["DOID:0111430", "MEDGEN:409870", "MESH:C566949", "OMIM:611456", "UMLS:C1969617"]}
{"category": ["biolink:Disease"], "description": "The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile.", "id": "MONDO:0012672", "name": "Cholelithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:10211", "EFO:0004799", "ICD10CM:K80", "ICD10WHO:K80", "ICD9:574", "ICD9:574.20", "ICD9:574.5", "MEDGEN:3039", "MESH:D002769", "NCIT:C122822", "SCTID:266474003", "UMLS:C0008350", "icd11.foundation:1268183934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012673", "name": "Colorectal cancer, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS2", "colorectal cancer, susceptibility to, 2"], "xref": ["GARD:0027815", "MEDGEN:369417", "OMIM:611469", "UMLS:C1969113"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012674", "name": "Age related macular degeneration 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARMD10", "TLR4 age-related macular degeneration", "age related macular degeneration type 10", "macular Degeneration, age-related, type 10"], "xref": ["DOID:0110022", "GARD:0024878", "MEDGEN:409758", "MESH:C566935", "OMIM:611488", "UMLS:C1969108"]}
{"category": ["biolink:Disease"], "description": "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.", "id": "MONDO:0012675", "name": "Corticosteroid-binding globulin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CBG deficiency", "Transcortin deficiency", "corticosteroid-binding globulin deficiency", "transcortin deficiency"], "xref": ["DOID:0090030", "GARD:0013101", "MEDGEN:343831", "OMIM:611489", "Orphanet:199247", "UMLS:C1852529"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.", "id": "MONDO:0012676", "name": "Autosomal recessive osteopetrosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLCN7 autosomal recessive malignant osteopetrosis", "CLCN7 autosomal recessive osteopetrosis", "CLCN7-related osteopetrosis", "OPTB4", "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7", "autosomal recessive osteopetrosis caused by mutation in CLCN7", "autosomal recessive osteopetrosis type 4", "osteopetrosis, autosomal recessive type 4"], "xref": ["DOID:0110944", "GARD:0005993", "MEDGEN:370598", "MESH:C566933", "OMIM:611490", "UMLS:C1969106"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.", "id": "MONDO:0012677", "name": "Atrial fibrillation, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNE2 familial atrial fibrillation", "atrial fibrillation, familial, 4", "atrial fibrillation, familial, type 4", "familial atrial fibrillation caused by mutation in KCNE2"], "xref": ["GARD:0015516", "MEDGEN:400041", "MESH:C566244", "OMIM:611493", "UMLS:C1862394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012678", "name": "Atrial fibrillation, familial, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATFB5", "atrial fibrillation, familial, 5"], "xref": ["GARD:0015517", "MEDGEN:369411", "MESH:C566932", "OMIM:611494", "UMLS:C1969099"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.", "id": "MONDO:0012679", "name": "Autosomal recessive osteopetrosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPTB6", "PLEKHM1 osteopetrosis (disease)", "autosomal recessive intermediate osteopetrosis", "autosomal recessive osteopetrosis type 6", "osteopetrosis (disease) caused by mutation in PLEKHM1", "osteopetrosis, autosomal recessive type 6"], "xref": ["DOID:0110945", "GARD:0004156", "MEDGEN:409754", "MESH:C566931", "OMIM:611497", "Orphanet:210110", "UMLS:C1969093"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.", "id": "MONDO:0012680", "name": "Nephronophthisis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GLIS2 nephronophthisis (disease)", "NPHP7", "nephronophthisis (disease) caused by mutation in GLIS2", "nephronophthisis 7", "nephronophthisis type 7"], "xref": ["DOID:0111116", "GARD:0024879", "MEDGEN:369409", "MESH:C566930", "OMIM:611498", "UMLS:C1969092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012681", "name": "Febrile seizures, familial, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB7", "febrile seizures, familial, 7"], "xref": ["DOID:0111311", "MEDGEN:369406", "MESH:C566929", "OMIM:611515", "UMLS:C1969087"]}
{"category": ["biolink:Disease"], "description": "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.", "id": "MONDO:0012682", "name": "Immunodeficiency 35", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:predisposition", "mondo:rare"], "synonym": ["HIES with atypical Mycobacteriosis, autosomal recessive", "IMD35", "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency", "TYK2 deficiency", "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency", "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2", "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive", "immunodeficiency 35", "immunodeficiency type 35", "susceptibility to infection due to TYK2 deficiency", "tyrosine kinase 2 deficiency"], "xref": ["DOID:0111989", "GARD:0017514", "MEDGEN:409751", "MESH:C566928", "OMIM:611521", "Orphanet:331226", "UMLS:C1969086"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.", "id": "MONDO:0012683", "name": "Pontocerebellar hypoplasia type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH6", "RARS2 non-syndromic pontocerebellar hypoplasia", "fatal infantile encephalopathy with mitochondrial respiratory chain defects", "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2", "pontocerebellar hypoplasia type 6"], "xref": ["DOID:0060275", "GARD:0010710", "MEDGEN:370596", "MESH:C548074", "OMIM:611523", "Orphanet:166073", "SCTID:718606005", "UMLS:C1969084", "icd11.foundation:1612653027"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.", "id": "MONDO:0012684", "name": "Arrhythmogenic right ventricular dysplasia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARVC12", "ARVD12", "JUP familial isolated arrhythmogenic right ventricular dysplasia", "arrhythmogenic right ventricular cardiomyopathy 12", "arrhythmogenic right ventricular dysplasia 12", "arrhythmogenic right ventricular dysplasia type 12", "arrhythmogenic right ventricular dysplasia, familial, type 12", "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP"], "xref": ["DOID:0110083", "GARD:0024880", "MEDGEN:409749", "MESH:C566925", "OMIM:611528", "UMLS:C1969081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012685", "name": "Major affective disorder 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD5", "major affective disorder 5"], "xref": ["MEDGEN:372672", "MESH:C567074", "OMIM:611535", "UMLS:C1970944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012686", "name": "Major affective disorder 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD6", "major affective disorder 6"], "xref": ["MEDGEN:372673", "MESH:C567075", "OMIM:611536", "UMLS:C1970945"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012687", "name": "Familial cavitary optic disk anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["familial CODA"], "xref": ["GARD:0017822", "MEDGEN:370593", "MESH:C566924", "OMIM:611543", "Orphanet:464760", "UMLS:C1969063"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.", "id": "MONDO:0012688", "name": "Cataract 17 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYBB1 early-onset non-syndromic cataract", "CTRCT17", "early-onset non-syndromic cataract caused by mutation in CRYBB1"], "xref": ["DOID:0110270", "GARD:0024881", "MEDGEN:854781", "MESH:C566923", "OMIM:611544", "UMLS:C3888124"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.", "id": "MONDO:0012689", "name": "Premature ovarian failure 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NOBOX primary ovarian failure", "premature ovarian failure 5", "premature ovarian failure type 5", "primary ovarian failure caused by mutation in NOBOX"], "xref": ["DOID:0080862", "GARD:0024882", "MEDGEN:409743", "MESH:C566921", "OMIM:611548", "UMLS:C1969060"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.", "id": "MONDO:0012690", "name": "Noonan syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS5", "Noonan syndrome 5", "Noonan syndrome caused by mutation in RAF1", "Noonan syndrome type 5", "RAF1 Noonan syndrome"], "xref": ["DOID:0060583", "GARD:0010700", "MEDGEN:370589", "MESH:C548083", "NCIT:C176933", "OMIM:611553", "UMLS:C1969057"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.", "id": "MONDO:0012691", "name": "Leopard syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LEOPARD syndrome 2", "Leopard syndrome type 2", "leopard syndrome 2"], "xref": ["DOID:0080549", "GARD:0015518", "MEDGEN:370588", "MESH:C537117", "OMIM:611554", "UMLS:C1969056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012692", "name": "Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies", "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies"], "xref": ["MEDGEN:370587", "MESH:C566918", "OMIM:611555", "UMLS:C1969055"]}
{"category": ["biolink:Disease"], "description": "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.", "id": "MONDO:0012693", "name": "Glycogen storage disease due to muscle and heart glycogen synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to muscle and heart glycogen synthase deficiency", "GSD type 0b", "glycogen storage disease due to glycogen synthase deficiency of heart", "glycogen storage disease type 0b", "glycogenosis due to muscle and heart glycogen synthase deficiency", "glycogenosis type 0b", "heart glycogen storage disease due to glycogen synthase deficiency"], "xref": ["GARD:0010760", "MEDGEN:409741", "MESH:C566917", "NANDO:2201152", "OMIM:611556", "Orphanet:137625", "SCTID:725027004", "UMLS:C1969054"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.", "id": "MONDO:0012694", "name": "Joubert syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS7", "Joubert syndrome 7", "Joubert syndrome caused by mutation in RPGRIP1L", "Joubert syndrome type 7", "RPGRIP1L Joubert syndrome"], "xref": ["DOID:0111002", "GARD:0015519", "MEDGEN:369401", "MESH:C566916", "NCIT:C159653", "OMIM:611560", "UMLS:C1969053"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.", "id": "MONDO:0012695", "name": "Meckel syndrome, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MKS5", "Meckel syndrome caused by mutation in RPGRIP1L", "Meckel syndrome, type 5", "RPGRIP1L Meckel syndrome"], "xref": ["DOID:0070119", "GARD:0015520", "MEDGEN:409740", "MESH:C566915", "OMIM:611561", "UMLS:C1969052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012696", "name": "Otosclerosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC4", "otosclerosis 4"], "xref": ["DOID:0060923", "GARD:0024883", "MEDGEN:369916", "MESH:C566914", "OMIM:611571", "UMLS:C1969046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012697", "name": "Otosclerosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC7", "otosclerosis 7"], "xref": ["DOID:0060925", "GARD:0024884", "MEDGEN:409738", "MESH:C566913", "OMIM:611572", "UMLS:C1969044"]}
{"category": ["biolink:Disease"], "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.", "id": "MONDO:0012698", "name": "Waardenburg syndrome type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SOX10 Waardenburg syndrome type 2", "WS2E", "Waardenburg syndrome type 2 caused by mutation in SOX10"], "xref": ["DOID:0110956", "GARD:0015521", "MEDGEN:398476", "OMIM:611584", "UMLS:C2700405"]}
{"category": ["biolink:Disease"], "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.", "id": "MONDO:0012699", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2m", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FKTN autosomal recessive limb-girdle muscular dystrophy", "LGMD-FKTN related", "LGMD2M", "MDDGC4", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN"], "xref": ["DOID:0110296", "GARD:0012538", "MEDGEN:370585", "MESH:C566912", "OMIM:611588", "Orphanet:206554", "UMLS:C1969040"]}
{"category": ["biolink:Disease"], "description": "A very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.", "id": "MONDO:0012700", "name": "Renal tubular acidosis, distal, 4, with hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dRTA with anaemia", "dRTA with anemia", "distal renal tubular acidosis 4 with hemolytic anaemia", "distal renal tubular acidosis 4 with hemolytic anemia", "distal renal tubular acidosis with anaemia", "distal renal tubular acidosis with anemia"], "xref": ["GARD:0012354", "MEDGEN:1771439", "OMIM:611590", "Orphanet:93610", "UMLS:C5436235"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.", "id": "MONDO:0012701", "name": "Cataract 12 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CTRCT12"], "xref": ["DOID:0110239", "MEDGEN:814445", "MESH:C566909", "OMIM:611597", "UMLS:C3808115"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.", "id": "MONDO:0012703", "name": "Lissencephaly due to tuba1a mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LIS3", "lissencephaly 3"], "xref": ["GARD:0017066", "MEDGEN:930822", "MESH:C566908", "NCIT:C148461", "OMIM:611603", "Orphanet:171680", "UMLS:C4305153"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.", "id": "MONDO:0012704", "name": "Dilated cardiomyopathy 1x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1X", "FKTN familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1X", "dilated cardiomyopathy type 1X", "familial isolated dilated cardiomyopathy caused by mutation in FKTN"], "xref": ["DOID:0110444", "GARD:0015522", "MEDGEN:370583", "MESH:C566907", "OMIM:611615", "UMLS:C1969024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012705", "name": "Familial temporal lobe epilepsy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETL3", "epilepsy, familial temporal lobe, 3", "familial temporal lobe epilepsy type 3"], "xref": ["DOID:0060750", "GARD:0018279", "MEDGEN:368898", "MESH:C566903", "OMIM:611630", "UMLS:C1968848"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.", "id": "MONDO:0012706", "name": "Familial temporal lobe epilepsy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETL4", "familial temporal lobe epilepsy type 4"], "xref": ["DOID:0060753", "GARD:0015523", "MEDGEN:368897", "MESH:C566902", "OMIM:611631", "UMLS:C1968847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012707", "name": "Familial febrile seizures 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB9"], "xref": ["DOID:0111303", "MEDGEN:369868", "MESH:C566901", "OMIM:611634", "UMLS:C1968846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012708", "name": "Primary lateral sclerosis, adult, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PLSA1"], "xref": ["GARD:0024885", "MEDGEN:369357", "MESH:C566900", "OMIM:611637", "UMLS:C1968845"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.", "id": "MONDO:0012709", "name": "Microphthalmia, isolated, with coloboma 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SHH microphthalmia, isolated, with coloboma", "Shh microphthalmia, isolated, with coloboma", "microphthalmia with coloboma 5", "microphthalmia, isolated, with coloboma 5", "microphthalmia, isolated, with coloboma caused by mutation in SHH", "microphthalmia, isolated, with coloboma caused by mutation in Shh", "microphthalmia, isolated, with coloboma type 5"], "xref": ["GARD:0015524", "MEDGEN:369356", "MESH:C566899", "OMIM:611638", "UMLS:C1968843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012711", "name": "Peripapillary atrophy, beta type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripapillary atrophy, beta type"], "xref": ["MEDGEN:409689", "MESH:C566898", "OMIM:611650", "UMLS:C1968838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012712", "name": "Dystonia with cerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DYTCA", "dystonia with cerebellar atrophy"], "xref": ["MEDGEN:392987", "MESH:C567131", "OMIM:611694", "UMLS:C2673697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012713", "name": "Spondylometaphyseal dysplasia, east african type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia, East African type"], "xref": ["DOID:0112302", "GARD:0004992", "MEDGEN:388701", "MESH:C535796", "OMIM:611702", "UMLS:C2673686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012714", "name": "Early-onset myopathy with fatal cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Salih myopathy"], "xref": ["DOID:0081341", "GARD:0017324", "MEDGEN:435983", "MESH:C567129", "OMIM:611705", "Orphanet:289377", "SCTID:702343002", "UMLS:C2673677"]}
{"category": ["biolink:Disease"], "description": "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).", "id": "MONDO:0012716", "name": "Spondyloepiphyseal dysplasia, cantu type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SED-BDS", "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome", "tattoo dysplasia"], "xref": ["DOID:0112287", "GARD:0010629", "MEDGEN:435975", "MESH:C567128", "OMIM:611717", "Orphanet:163654", "SCTID:718765003", "UMLS:C2673649", "icd11.foundation:897226700"]}
{"category": ["biolink:Disease"], "description": "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.", "id": "MONDO:0012717", "name": "Renal hypomagnesemia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EGF familial primary hypomagnesemia", "EGF primary hypomagnesemia", "HOMG4", "familial primary hypomagnesemia caused by mutation in EGF", "primary hypomagnesemia caused by mutation in EGF", "renal hypomagnesemia type 4"], "xref": ["DOID:0060882", "GARD:0024886", "MEDGEN:388692", "MESH:C567127", "OMIM:611718", "UMLS:C2673648"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.", "id": "MONDO:0012718", "name": "Hypotonia with lactic acidemia and hyperammonemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD5", "MRPS22 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 5", "combined oxidative phosphorylation deficiency caused by mutation in MRPS22", "combined oxidative phosphorylation deficiency type 5"], "xref": ["DOID:0111473", "GARD:0016950", "MEDGEN:435972", "MESH:C567126", "OMIM:611719", "Orphanet:137908", "SCTID:724279004", "UMLS:C2673642"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.", "id": "MONDO:0012719", "name": "Combined psap deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined prosaposin deficiency", "encephalopathy due to prosaposin deficiency"], "xref": ["DOID:0111330", "GARD:0012505", "MEDGEN:382151", "MESH:C567125", "OMIM:611721", "Orphanet:139406", "SCTID:720864008", "UMLS:C2673635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012720", "name": "Krabbe disease due to saposin a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Krabbe disease, atypical", "Krabbe disease, atypical due to saposin A deficiency", "Krabbe disease, atypical, due to saposin A deficiency"], "xref": ["GARD:0010289", "MEDGEN:392873", "MESH:C567097", "OMIM:611722", "UMLS:C2673266"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.", "id": "MONDO:0012721", "name": "Progressive myoclonic epilepsy type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN14 disease", "EPM3", "KCTD7 progressive myoclonic epilepsy", "PME type 3", "epilepsy, progressive myoclonic 3, with or without intracellular inclusions", "neuronal ceroid lipofuscinosis type 14", "progressive myoclonic epilepsy caused by mutation in KCTD7", "progressive myoclonic epilepsy due to KCTD7 deficiency", "progressive myoclonic epilepsy type 3", "progressive myoclonus epilepsy type 3"], "xref": ["DOID:0111446", "GARD:0002167", "MEDGEN:388595", "MESH:C567095", "OMIM:611726", "Orphanet:263516", "Orphanet:699708", "SCTID:783064000", "UMLS:C2673257", "icd11.foundation:383417276"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012722", "name": "Dauwerse-peters syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dauwerse-Peters syndrome"], "xref": ["MEDGEN:382037", "MESH:C567093", "OMIM:611733", "UMLS:C2673203"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.", "id": "MONDO:0012723", "name": "Leber congenital amaurosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP290 Leber congenital amaurosis", "LCA10", "Leber congenital amaurosis 10", "Leber congenital amaurosis caused by mutation in CEP290", "Leber congenital amaurosis type 10"], "xref": ["DOID:0110291", "GARD:0010487", "MEDGEN:346672", "MESH:C565720", "OMIM:611755", "UMLS:C1857821"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.", "id": "MONDO:0012724", "name": "Familial cold autoinflammatory syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FCAS2", "NALP12-associated hereditary periodic fever syndrome", "NAPS12", "NLRP12 familial cold autoinflammatory syndrome", "NLRP12-associated hereditary periodic fever syndrome", "familial cold autoinflammatory syndrome 2", "familial cold autoinflammatory syndrome caused by mutation in NLRP12", "familial cold autoinflammatory syndrome type 2"], "xref": ["DOID:0090063", "GARD:0017201", "MEDGEN:435869", "MESH:C567090", "NANDO:2200449", "NANDO:2200454", "NCIT:C119043", "OMIM:611762", "Orphanet:247868", "UMLS:C2673198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012725", "name": "Lipoprotein glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LPG", "lipoprotein glomerulopathy"], "xref": ["GARD:0017504", "ICD9:272.8", "ICD9:593.89", "MEDGEN:382034", "MESH:C567089", "NANDO:2200134", "OMIM:611771", "Orphanet:329481", "SCTID:446923008", "UMLS:C2673196", "icd11.foundation:69778702"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.", "id": "MONDO:0012726", "name": "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HANAC", "HANAC syndrome", "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"], "xref": ["GARD:0010889", "ICD9:758.89", "MEDGEN:382033", "MESH:C567088", "OMIM:611773", "Orphanet:73229", "SCTID:702428000", "UMLS:C2673195"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.", "id": "MONDO:0012727", "name": "Kawasaki disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kawasaki syndrome", "acute febrile mucocutaneous lymph node syndrome", "acute febrile mucocutaneous lymph node syndrome [MCLS]", "infantile polyarteritis nodosa", "mucocutaneous lymph node syndrome"], "xref": ["DOID:13378", "EFO:0004246", "GARD:0006816", "ICD10CM:M30.3", "ICD9:446.1", "MEDGEN:10118", "MESH:D009080", "MedDRA:10023320", "NCIT:C34825", "OMIM:611775", "Orphanet:2331", "SCTID:75053002", "UMLS:C0026691", "icd11.foundation:540285662"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.", "id": "MONDO:0012728", "name": "Brugada syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA2", "Brugada syndrome 2", "Brugada syndrome caused by mutation in GPD1L", "Brugada syndrome type 2", "GPD1L Brugada syndrome"], "xref": ["DOID:0110219", "GARD:0015526", "MEDGEN:382031", "MESH:C567087", "OMIM:611777", "UMLS:C2673193"]}
{"category": ["biolink:Disease"], "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.", "id": "MONDO:0012729", "name": "Erythrocytosis, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPAS1 familial polycythemia", "erythrocytosis, familial, 4", "erythrocytosis, familial, type 4", "familial polycythemia caused by mutation in EPAS1"], "xref": ["DOID:0080339", "GARD:0018356", "MEDGEN:435867", "MESH:C567086", "OMIM:611783", "UMLS:C2673187"]}
{"category": ["biolink:Disease"], "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.", "id": "MONDO:0012730", "name": "Aortic aneurysm, familial thoracic 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTA2 familial thoracic aortic aneurysm and aortic dissection", "aortic aneurysm, familial thoracic 6", "aortic aneurysm, familial thoracic type 6", "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2"], "xref": ["GARD:0015527", "MEDGEN:435866", "MESH:C567085", "OMIM:611788", "UMLS:C2673186"]}
{"category": ["biolink:Disease"], "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.", "id": "MONDO:0012731", "name": "Elliptocytosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPB41 hereditary elliptocytosis", "elliptocytosis 1", "elliptocytosis type 1", "elliptocytosis-1", "hereditary elliptocytosis caused by mutation in EPB41"], "xref": ["GARD:0015528", "MEDGEN:394841", "MESH:C567520", "OMIM:611804", "UMLS:C2678497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012732", "name": "Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tremor, hereditary essential, and idiopathic normal pressure hydrocephalus"], "xref": ["MEDGEN:394839", "MESH:C567519", "OMIM:611808", "UMLS:C2678494"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).", "id": "MONDO:0012733", "name": "Autosomal recessive bestrophinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinopathy, Burgess-Black type"], "xref": ["DOID:0050662", "GARD:0010301", "MEDGEN:854806", "MESH:C567518", "OMIM:611809", "Orphanet:139455", "SCTID:723828008", "UMLS:C3888198"]}
{"category": ["biolink:Disease"], "description": "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.", "id": "MONDO:0012734", "name": "Serkal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs", "SERKAL syndrome", "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome"], "xref": ["GARD:0010302", "MEDGEN:394528", "MESH:C567517", "NCIT:C123726", "OMIM:611812", "Orphanet:139466", "SCTID:723720008", "UMLS:C2678492"]}
{"category": ["biolink:Disease"], "description": "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.", "id": "MONDO:0012735", "name": "Temple-baraitser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TMBTS", "Temple-Baraitser syndrome", "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome"], "xref": ["GARD:0009441", "MEDGEN:395636", "MESH:C567516", "OMIM:611816", "Orphanet:420561", "UMLS:C2678486"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.", "id": "MONDO:0012736", "name": "Long qt syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CAV3 long QT syndrome", "LQT9", "long QT syndrome 9", "long QT syndrome caused by mutation in CAV3", "long QT syndrome type 9"], "xref": ["DOID:0110650", "GARD:0010435", "MEDGEN:395635", "MESH:C567515", "OMIM:611818", "UMLS:C2678485"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.", "id": "MONDO:0012737", "name": "Long qt syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LQT10", "SCN4B long QT syndrome", "long QT syndrome 10", "long QT syndrome caused by mutation in SCN4B", "long QT syndrome type 10"], "xref": ["DOID:0110651", "GARD:0010436", "MEDGEN:394836", "MESH:C567514", "OMIM:611819", "UMLS:C2678484"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.", "id": "MONDO:0012738", "name": "Long qt syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AKAP9 long QT syndrome", "LQT11", "long QT syndrome 11", "long QT syndrome caused by mutation in AKAP9", "long QT syndrome type 11"], "xref": ["DOID:0110652", "GARD:0010437", "MEDGEN:437218", "MESH:C567513", "OMIM:611820", "UMLS:C2678483"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.", "id": "MONDO:0012739", "name": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Balikova-Vermeesch syndrome"], "xref": ["GARD:0010300", "MEDGEN:394835", "MESH:C567512", "OMIM:611863", "Orphanet:139450", "UMLS:C2678482"]}
{"category": ["biolink:Disease"], "description": "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.", "id": "MONDO:0012740", "name": "Chromosome 22q11.2 deletion syndrome, distal", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 22q11.2 deletion syndrome, distal", "distal 22q11.2 microdeletion syndrome", "distal del(22)(q11.2)", "distal monosomy 22q11.2"], "xref": ["DECIPHER:72", "DOID:0060413", "GARD:0017245", "MEDGEN:395634", "MESH:C567511", "OMIM:611867", "Orphanet:261330", "SCTID:734029004", "UMLS:C2678480"]}
{"category": ["biolink:Disease"], "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "id": "MONDO:0012741", "name": "Prostate cancer, hereditary, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["EHBP1 familial prostate cancer", "familial prostate cancer caused by mutation in EHBP1", "prostate cancer, hereditary, 12", "prostate cancer, hereditary, type 12"], "xref": ["GARD:0015529", "MEDGEN:437216", "MESH:C567510", "OMIM:611868", "UMLS:C2678479"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.", "id": "MONDO:0012742", "name": "Brugada syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA3", "Brugada syndrome 3", "Brugada syndrome caused by mutation in CACNA1C", "Brugada syndrome type 3", "CACNA1C Brugada syndrome"], "xref": ["DOID:0110220", "GARD:0010361", "MEDGEN:395633", "MESH:C567509", "OMIM:611875", "UMLS:C2678478"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.", "id": "MONDO:0012743", "name": "Brugada syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA4", "Brugada syndrome 4", "Brugada syndrome caused by mutation in CACNB2", "Brugada syndrome type 4", "CACNB2 Brugada syndrome"], "xref": ["DOID:0110221", "GARD:0010362", "MEDGEN:395632", "MESH:C567508", "OMIM:611876", "UMLS:C2678477"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.", "id": "MONDO:0012744", "name": "Dilated cardiomyopathy 1y", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1Y", "TPM1 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Y", "dilated cardiomyopathy type 1Y", "familial isolated dilated cardiomyopathy caused by mutation in TPM1"], "xref": ["DOID:0110457", "GARD:0015530", "MEDGEN:437215", "MESH:C567507", "OMIM:611878", "UMLS:C2678476"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.", "id": "MONDO:0012745", "name": "Dilated cardiomyopathy 1z", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1Z", "TNNC1 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Z", "dilated cardiomyopathy type 1Z", "familial isolated dilated cardiomyopathy caused by mutation in TNNC1"], "xref": ["DOID:0110434", "GARD:0015531", "MEDGEN:395631", "MESH:C567506", "OMIM:611879", "UMLS:C2678475"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.", "id": "MONDO:0012746", "name": "Dilated cardiomyopathy 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2A", "cardiomyopathy, dilated, type 2A", "dilated cardiomyopathy type 2A"], "xref": ["DOID:0110460", "GARD:0015532", "MEDGEN:437214", "OMIM:611880", "UMLS:C2678474"]}
{"category": ["biolink:Disease"], "description": "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.", "id": "MONDO:0012747", "name": "Glycogen storage disease due to aldolase a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to aldolase A deficiency", "GSD type 12", "GSD type XII", "glycogen storage disease due to aldolase A deficiency", "glycogen storage disease type 12", "glycogen storage disease type XII", "glycogenosis due to aldolase A deficiency", "glycogenosis type 12", "glycogenosis type XII"], "xref": ["GARD:0000600", "ICD9:282.3", "MEDGEN:82895", "MESH:C562718", "NANDO:1200834", "OMIM:611881", "Orphanet:57", "SCTID:111578003", "UMLS:C0272066", "icd11.foundation:1020924235"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.", "id": "MONDO:0012748", "name": "Primary ciliary dyskinesia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD7", "DNAH11 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 7", "primary ciliary dyskinesia 7", "primary ciliary dyskinesia caused by mutation in DNAH11", "primary ciliary dyskinesia type 7"], "xref": ["DOID:0110605", "GARD:0015533", "MEDGEN:394834", "MESH:C567504", "OMIM:611884", "UMLS:C2678473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012749", "name": "Mesomelic dysplasia, camera type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesomelic dysplasia, camera type"], "xref": ["MEDGEN:394526", "MESH:C567503", "OMIM:611886", "UMLS:C2678472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012750", "name": "Lethal arthrogryposis-anterior horn cell disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LAAHD", "Vuopala disease", "congenital arthrogryposis with anterior horn cell disease"], "xref": ["GARD:0016658", "MEDGEN:1677784", "MESH:C567502", "OMIM:611890", "Orphanet:53696", "SCTID:715565004", "UMLS:C5193016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012751", "name": "Aortic aneurysm, familial abdominal, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAA3", "aneurysm, familial abdominal 3", "aortic aneurysm, familial abdominal, 3"], "xref": ["GARD:0016493", "MEDGEN:394525", "MESH:C567501", "OMIM:611891", "UMLS:C2678470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012752", "name": "Aneurysm, intracranial berry, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB6"], "xref": ["DOID:0080969", "GARD:0018324", "MEDGEN:395630", "MESH:C567500", "OMIM:611892", "UMLS:C2678469"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.", "id": "MONDO:0012753", "name": "Amyotrophic lateral sclerosis type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS9", "ANG amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 9", "amyotrophic lateral sclerosis caused by mutation in ANG", "amyotrophic lateral sclerosis type 9"], "xref": ["DOID:0060200", "GARD:0010498", "MEDGEN:395629", "MESH:C567499", "OMIM:611895", "UMLS:C2678468"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012754", "name": "Nanophthalmos 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NNO3", "nanophthalmos 3"], "xref": ["GARD:0018627", "MEDGEN:395628", "MESH:C567498", "OMIM:611897", "UMLS:C2678467"]}
{"category": ["biolink:Disease"], "description": "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.", "id": "MONDO:0012755", "name": "Episodic ataxia type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050995", "GARD:0017108", "MEDGEN:383209", "MESH:C567459", "OMIM:611907", "Orphanet:209970", "SCTID:718752007", "UMLS:C2677843", "icd11.foundation:1855038011"]}
{"category": ["biolink:Disease"], "description": "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.", "id": "MONDO:0012756", "name": "Proximal 16p11.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["autism susceptibility 14A", "chromosome 16p11.2 deletion syndrome, 593kb", "proximal del(16)(p11.2)", "proximal monosomy 16p11.2"], "xref": ["DOID:0070515", "GARD:0010740", "ICD9:758.39", "MEDGEN:461504", "MESH:C579850", "NCIT:C120408", "OMIM:611913", "Orphanet:261197", "SCTID:699307007", "SCTID:718227006", "UMLS:C3150154"]}
{"category": ["biolink:Disease"], "description": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.", "id": "MONDO:0012757", "name": "Lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016947", "MEDGEN:461506", "OMIM:611926", "Orphanet:137631", "SCTID:721977007", "UMLS:C3150156"]}
{"category": ["biolink:Disease"], "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "id": "MONDO:0012758", "name": "Prostate cancer, hereditary, 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["MSMB familial prostate cancer", "familial prostate cancer caused by mutation in MSMB", "prostate cancer, hereditary, 13", "prostate cancer, hereditary, type 13"], "xref": ["GARD:0015534", "MEDGEN:383198", "MESH:C567456", "OMIM:611928", "UMLS:C2677821"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.", "id": "MONDO:0012759", "name": "Camptodactyly syndrome, guadalajara type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010573", "MEDGEN:394371", "MESH:C567455", "OMIM:611929", "Orphanet:488434", "UMLS:C2677809"]}
{"category": ["biolink:Disease"], "description": "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.", "id": "MONDO:0012761", "name": "Chromosome 3q29 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3q29 microduplication syndrome", "trisomy 3q29"], "xref": ["DECIPHER:77", "DOID:0060459", "GARD:0010360", "MEDGEN:440897", "MESH:C567626", "OMIM:611936", "Orphanet:251038", "SCTID:717973004", "UMLS:C2749873"]}
{"category": ["biolink:Disease"], "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.", "id": "MONDO:0012762", "name": "Catecholaminergic polymorphic ventricular tachycardia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CASQ2 catecholaminergic polymorphic ventricular tachycardia", "catecholaminergic polymorphic ventricular tachycardia 2", "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2", "catecholaminergic polymorphic ventricular tachycardia type 2", "ventricular tachycardia, catecholaminergic polymorphic, type 2"], "xref": ["DOID:0060676", "GARD:0015535", "MEDGEN:393837", "NCIT:C148368", "OMIM:611938", "UMLS:C2677794"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.", "id": "MONDO:0012764", "name": "Riddle syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RIDDLE syndrome", "RNF168 deficiency", "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"], "xref": ["DOID:0090113", "GARD:0017701", "MEDGEN:394368", "MESH:C567453", "NANDO:1200336", "NANDO:2200710", "OMIM:611943", "Orphanet:420741", "UMLS:C2677792"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012765", "name": "Lymphatic malformation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMPH1B", "lymphedema, hereditary, 1B"], "xref": ["DOID:0070211", "GARD:0016453", "MEDGEN:1648459", "MESH:C567452", "OMIM:611944", "UMLS:C4747568"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.", "id": "MONDO:0012766", "name": "Hereditary spastic paraplegia 37", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG37", "autosomal dominant spastic paraplegia type 37", "hereditary spastic paraplegia type 37"], "xref": ["DOID:0110788", "GARD:0017064", "MEDGEN:422458", "MESH:C567931", "OMIM:611945", "Orphanet:171612", "SCTID:763369007", "UMLS:C2936880"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.", "id": "MONDO:0012767", "name": "Age related macular degeneration 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD11", "CST3 age-related macular degeneration", "age related macular degeneration type 11", "age-related macular degeneration caused by mutation in CST3", "macular Degeneration, age-related, type 11"], "xref": ["DOID:0110023", "GARD:0024887", "MEDGEN:393833", "MESH:C567450", "OMIM:611953", "UMLS:C2677774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012768", "name": "Prostate cancer, hereditary, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPC11", "prostate cancer, hereditary, 11"], "xref": ["GARD:0015536", "MEDGEN:394363", "MESH:C567449", "OMIM:611955", "UMLS:C2677773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012769", "name": "Prostate cancer, hereditary, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPC14", "prostate cancer, hereditary, 14"], "xref": ["GARD:0015537", "MEDGEN:393832", "MESH:C567448", "OMIM:611958", "UMLS:C2677772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012770", "name": "Prostate cancer, hereditary, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPC15", "prostate cancer, hereditary, 15"], "xref": ["GARD:0015538", "MEDGEN:437036", "MESH:C567447", "OMIM:611959", "UMLS:C2677771"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012772", "name": "Stevenson-carey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stevenson-Carey syndrome"], "xref": ["MEDGEN:383183", "MESH:C567446", "OMIM:611961", "UMLS:C2677763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012773", "name": "Hunter-macdonald syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Hunter-Macdonald syndrome"], "xref": ["GARD:0002755", "MEDGEN:383181", "MESH:C567445", "OMIM:611962", "UMLS:C2677745"]}
{"category": ["biolink:Disease"], "description": "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.", "id": "MONDO:0012774", "name": "Chromosome 15q13.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["15q13.3 microdeletion syndrome", "Del(15)(q13.3)", "chromosome 15q13.3 microdeletion syndrome", "monosomy 15q13.3"], "xref": ["DECIPHER:74", "DOID:0060394", "GARD:0010296", "MEDGEN:393784", "MESH:C567439", "OMIM:612001", "Orphanet:199318", "SCTID:699254009", "UMLS:C2677613"]}
{"category": ["biolink:Disease"], "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.", "id": "MONDO:0012775", "name": "Thrombocytopenia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CYCS thrombocytopenia", "thrombocytopenia 4", "thrombocytopenia caused by mutation in CYCS", "thrombocytopenia type 4"], "xref": ["GARD:0018289", "MEDGEN:394329", "MESH:C567438", "OMIM:612004", "UMLS:C2677608"]}
{"category": ["biolink:Disease"], "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).", "id": "MONDO:0012783", "name": "Rft1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type In", "CDG-In", "CDG1N", "Man5GlcNAc2-PP-Dol flippase deficiency", "RFT1-CDG", "RFT1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type In", "congenital disorder of glycosylation type 1n", "congenital disorder of glycosylation type In"], "xref": ["DOID:0080566", "GARD:0012394", "MEDGEN:383145", "MESH:C567437", "OMIM:612015", "Orphanet:244310", "SCTID:733084000", "UMLS:C2677590"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.", "id": "MONDO:0012784", "name": "Autosomal recessive ataxia due to ubiquinone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCA2", "SCAR9", "autosomal recessive ataxia due to coenzyme Q10 deficiency", "autosomal recessive cerebellar ataxia type 2", "autosomal recessive spinocerebellar ataxia type 9", "coenzyme Q10 deficiency, primary, type 4"], "xref": ["DOID:0070241", "GARD:0010294", "MEDGEN:436985", "MESH:C567436", "OMIM:612016", "Orphanet:139485", "SCTID:725394006", "UMLS:C2677589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012785", "name": "Pyloric stenosis, infantile hypertrophic, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IHPS3", "pyloric stenosis, infantile hypertrophic, 3"], "xref": ["MEDGEN:383144", "MESH:C567435", "OMIM:612017", "UMLS:C2677588"]}
{"category": ["biolink:Disease"], "description": "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.", "id": "MONDO:0012786", "name": "Juvenile cataract-microcornea-renal glucosuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cataract 47, juvenile, with microcornea", "juvenile cataract-microcornea-renal glucosuria syndrome"], "xref": ["DOID:0070353", "GARD:0017196", "MEDGEN:934773", "MESH:C567434", "OMIM:612018", "Orphanet:247794", "SCTID:722457005", "UMLS:C4310806"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.", "id": "MONDO:0012787", "name": "Hereditary spastic paraplegia 39", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NTE-related motor neuron disorder", "NTEMND", "PNPLA6 hereditary spastic paraplegia", "SPG39", "autosomal recessive spastic paraplegia type 39", "hereditary spastic paraplegia caused by mutation in PNPLA6", "hereditary spastic paraplegia type 39", "spastic paraplegia due to NTE mutation", "spastic paraplegia due to neuropathy target esterase mutation"], "xref": ["DOID:0110790", "GARD:0004924", "MEDGEN:383142", "MESH:C567433", "OMIM:612020", "Orphanet:139480", "SCTID:719103009", "UMLS:C2677586"]}
{"category": ["biolink:Disease"], "description": "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.", "id": "MONDO:0012789", "name": "Dystonia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT-PRKRA", "DYT16", "PRKRA dystonic disorder", "dystonia 16", "dystonia type 16", "dystonic disorder caused by mutation in PRKRA", "early-onset dystonia parkinsonism"], "xref": ["DOID:0090048", "GARD:0010539", "MEDGEN:436979", "MESH:C567430", "NANDO:1200529", "NCIT:C168729", "OMIM:612067", "Orphanet:210571", "SCTID:722435003", "UMLS:C2677567", "icd11.foundation:548945828"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.", "id": "MONDO:0012790", "name": "Amyotrophic lateral sclerosis type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS10", "TARDBP amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 10, with or without FTD", "amyotrophic lateral sclerosis caused by mutation in TARDBP", "amyotrophic lateral sclerosis type 10", "frontotemporal lobar degeneration, TARDBP-related"], "xref": ["DOID:0060201", "GARD:0015540", "MEDGEN:383137", "MESH:C567429", "OMIM:612069", "UMLS:C2677565"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.", "id": "MONDO:0012791", "name": "Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["booth-Haworth-Dilling syndrome", "mitochondrial DNA depletion syndrome 5", "mitochondrial DNA depletion syndrome type 5", "mitochondrial encephalomyopathy-aminoacidopathy syndrome", "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"], "xref": ["DOID:0080124", "GARD:0003681", "MEDGEN:1876465", "MESH:C567624", "OMIM:612073", "Orphanet:1933", "UMLS:C5980207"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.", "id": "MONDO:0012792", "name": "Mitochondrial dna depletion syndrome 8a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RRM2B mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome caused by mutation in RRM2B", "mitochondrial DNA depletion syndrome type 8a", "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy"], "xref": ["DOID:0070331", "DOID:0080127", "GARD:0013200", "MEDGEN:412815", "OMIM:612075", "Orphanet:255235", "SCTID:765100000", "UMLS:C2749861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012793", "name": "Hypouricemia, renal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["hypouricemia, renal, 2", "hypouricemia, renal, type 2", "uric acid concentration, serum, QTL 2"], "xref": ["GARD:0015541", "MEDGEN:436974", "MESH:C567426", "OMIM:612076", "UMLS:C2677549"]}
{"category": ["biolink:Disease"], "description": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.", "id": "MONDO:0012794", "name": "Ane syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANE syndrome", "alopecia-progressive neurological defect-endocrinopathy syndrome"], "xref": ["DOID:0112244", "GARD:0016987", "MEDGEN:394313", "MESH:C567425", "OMIM:612079", "Orphanet:157954", "UMLS:C2677535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012795", "name": "Hypophosphatemic rickets and hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypophosphatemic rickets and hyperparathyroidism"], "xref": ["MEDGEN:383131", "MESH:C567423", "OMIM:612089", "UMLS:C2677524"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.", "id": "MONDO:0012796", "name": "Retinitis pigmentosa 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PROM1 retinitis pigmentosa", "RP41", "retinitis pigmentosa 41", "retinitis pigmentosa caused by mutation in PROM1", "retinitis pigmentosa type 41"], "xref": ["DOID:0110376", "GARD:0010379", "MEDGEN:383126", "MESH:C567422", "OMIM:612095", "UMLS:C2677516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012797", "name": "Otosclerosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC8", "otosclerosis 8"], "xref": ["DOID:0060926", "GARD:0024888", "MEDGEN:436965", "MESH:C567421", "OMIM:612096", "UMLS:C2677515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012798", "name": "Deafness, unilateral, with delayed endolymphatic hydrops", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, unilateral, with delayed endolymphatic hydrops"], "xref": ["MEDGEN:393762", "MESH:C567420", "OMIM:612097", "UMLS:C2677512"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.", "id": "MONDO:0012799", "name": "Hypertrophic cardiomyopathy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACTC1 hypertrophic cardiomyopathy", "CMH11", "cardiomyopathy, familial hypertrophic, type 11", "cardiomyopathy, hypertrophic, 11", "hypertrophic cardiomyopathy 11", "hypertrophic cardiomyopathy caused by mutation in ACTC1", "hypertrophic cardiomyopathy type 11"], "xref": ["DOID:0110317", "GARD:0024889", "MEDGEN:436962", "MESH:C567419", "OMIM:612098", "UMLS:C2677506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012800", "name": "Trichoepithelioma, multiple familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["trichoepithelioma, multiple familial, 2", "trichoepithelioma, multiple familial, type 2"], "xref": ["GARD:0010373", "MEDGEN:394303", "MESH:C567418", "OMIM:612099", "UMLS:C2677505"]}
{"category": ["biolink:Disease"], "description": "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).", "id": "MONDO:0012802", "name": "Oculoauricular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["oculoauricular syndrome"], "xref": ["DOID:0060482", "GARD:0016988", "MEDGEN:393758", "MESH:C567416", "OMIM:612109", "Orphanet:157962", "UMLS:C2677500"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.", "id": "MONDO:0012803", "name": "Diarrhea-vomiting due to trehalase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated trehalose intolerance"], "xref": ["GARD:0010372", "ICD9:271.8", "MEDGEN:75660", "MESH:C562603", "OMIM:612119", "Orphanet:103909", "SCTID:84193000", "UMLS:C0268187", "icd11.foundation:2025219157"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.", "id": "MONDO:0012804", "name": "Hypertrophic cardiomyopathy 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH12", "CSRP3 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 12", "cardiomyopathy, hypertrophic, 12", "hypertrophic cardiomyopathy 12", "hypertrophic cardiomyopathy caused by mutation in CSRP3", "hypertrophic cardiomyopathy type 12"], "xref": ["DOID:0110318", "GARD:0024890", "MEDGEN:393755", "OMIM:612124", "UMLS:C2677491"]}
{"category": ["biolink:Disease"], "description": "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.", "id": "MONDO:0012805", "name": "Childhood onset glut1 deficiency syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT18", "GLUT1 deficiency syndrome 2, childhood onset", "GLUT1 deficiency syndrome type 2", "PED", "PxMD-SLC2A1", "childhood onset GLUT1 deficiency syndrome 2", "childhood onset GLUT1 deficiency syndrome type 2", "dystonia 18", "paroxysmal exercise-induced dystonia", "ped"], "xref": ["DOID:0090045", "GARD:0010541", "MEDGEN:330866", "MESH:C564288", "NANDO:1200531", "OMIM:612126", "Orphanet:98811", "SCTID:724072002", "UMLS:C1842534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012806", "name": "Ectodermal dysplasia and immunodeficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPAID2", "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant"], "xref": ["DOID:0081079", "GARD:0015542", "MEDGEN:394295", "MESH:C567411", "NCIT:C176826", "OMIM:612132", "UMLS:C2677481"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.", "id": "MONDO:0012807", "name": "Epidermolysis bullosa simplex 5c, with pyloric atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBS-PA", "epidermolysis bullosa simplex 5C, with pyloric atresia", "epidermolysis bullosa simplex with pyloric atresia"], "xref": ["GARD:0016991", "MEDGEN:436922", "MESH:C567408", "OMIM:612138", "Orphanet:158684", "SCTID:716701004", "UMLS:C2677349"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.", "id": "MONDO:0012808", "name": "Dilated cardiomyopathy 1aa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTN2 familial isolated dilated cardiomyopathy", "CMD1AA", "cardiomyopathy, dilated, 1AA, with or without LVNC", "cardiomyopathy, hypertrophic, 23, with or without LVNC", "dilated cardiomyopathy type 1AA", "familial isolated dilated cardiomyopathy caused by mutation in ACTN2"], "xref": ["DOID:0110428", "GARD:0015543", "MEDGEN:393713", "MESH:C567407", "OMIM:612158", "UMLS:C2677338"]}
{"category": ["biolink:Disease"], "description": "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.", "id": "MONDO:0012809", "name": "Histiocytoma, angiomatoid fibrous", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AFH", "angiomatoid fibrous histiocytoma", "angiomatoid malignant fibrous histiocytoma", "histiocytoma, Angiomatoid fibrous", "histiocytoma, angiomatoid fibrous, somatic"], "xref": ["GARD:0022303", "ICDO:8836/1", "MEDGEN:226845", "MESH:C563181", "NCIT:C6494", "OMIM:612160", "ONCOTREE:AFH", "Orphanet:569164", "UMLS:C1266127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012810", "name": "Aneurysm, intracranial berry, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB7"], "xref": ["DOID:0080970", "GARD:0018325", "MEDGEN:436919", "MESH:C567406", "OMIM:612161", "UMLS:C2677337"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012811", "name": "Aneurysm, intracranial berry, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB8"], "xref": ["DOID:0080971", "GARD:0018326", "MEDGEN:393712", "MESH:C567405", "OMIM:612162", "UMLS:C2677336"]}
{"category": ["biolink:Disease"], "description": "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.", "id": "MONDO:0012812", "name": "Developmental and epileptic encephalopathy, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEE4", "EIEE4", "STXBP1 early infantile epileptic encephalopathy", "STXBP1-related encephalopathy", "developmental and epileptic encephalopathy 4", "developmental and epileptic encephalopathy, 4", "early infantile epileptic encephalopathy 4", "early infantile epileptic encephalopathy caused by mutation in STXBP1", "epileptic encephalopathy, early infantile, 4", "epileptic encephalopathy, early infantile, type 4"], "xref": ["DOID:0080436", "GARD:0012900", "MEDGEN:436917", "MESH:C567404", "NCIT:C162472", "OMIM:612164", "Orphanet:599373", "SCTID:768666006", "UMLS:C2677326"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.", "id": "MONDO:0012813", "name": "Retinitis pigmentosa 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP29", "retinitis pigmentosa 29", "retinitis pigmentosa type 29"], "xref": ["DOID:0110378", "GARD:0010378", "MEDGEN:393710", "MESH:C567403", "OMIM:612165", "UMLS:C2677325"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012814", "name": "Diastasis recti and weakness of the linea alba", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diastasis recti and weakness of the linea alba"], "xref": ["MEDGEN:394255", "MESH:C567402", "OMIM:612198", "UMLS:C2677303"]}
{"category": ["biolink:Disease"], "description": "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.", "id": "MONDO:0012815", "name": "Coats plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRMCC", "cerebroretinal microangiopathy with calcfications and cysts", "cerebroretinal microangiopathy with calcifications and cysts"], "xref": ["GARD:0017412", "ICD9:348.89", "MEDGEN:383079", "MESH:C567401", "OMIMPS:612199", "Orphanet:313838", "SCTID:711482008", "UMLS:C2677299"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.", "id": "MONDO:0012816", "name": "Atrial fibrillation, familial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPPA familial atrial fibrillation", "atrial fibrillation, familial, 6", "atrial fibrillation, familial, type 6", "familial atrial fibrillation caused by mutation in NPPA"], "xref": ["GARD:0015544", "MEDGEN:394252", "MESH:C567400", "OMIM:612201", "UMLS:C2677294"]}
{"category": ["biolink:Disease"], "description": "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.", "id": "MONDO:0012817", "name": "Ewing sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ES", "Ewing sarcoma", "Ewing's family localised tumour", "Ewing's sarcoma", "Ewing's tumor", "Ewing's tumour"], "xref": ["DOID:3369", "EFO:0000174", "GARD:0006390", "ICDO:9260/3", "MEDGEN:107816", "MESH:D012512", "MedDRA:10015560", "NANDO:2200053", "NCIT:C4817", "OMIM:612219", "ONCOTREE:ES", "Orphanet:319", "UMLS:C0553580", "icd11.foundation:458106328"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.", "id": "MONDO:0012818", "name": "Maturity-onset diabetes of the young type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MODY9", "PAX4 maturity-onset diabetes of the young (disease)", "maturity-onset diabetes of the young (disease) caused by mutation in PAX4", "maturity-onset diabetes of the young, type IX"], "xref": ["DOID:0111107", "GARD:0010663", "MEDGEN:383033", "MESH:C567393", "OMIM:612225", "SCTID:609576002", "UMLS:C2677132"]}
{"category": ["biolink:Disease"], "description": "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.", "id": "MONDO:0012819", "name": "Diabetic ketoacidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1837", "EFO:1000897", "ICD9:250.1", "ICD9:250.10", "MEDGEN:8351", "MESH:D016883", "MedDRA:10012671", "SCTID:420422005", "UMLS:C0011880"]}
{"category": ["biolink:Disease"], "description": "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.", "id": "MONDO:0012820", "name": "Colorectal cancer, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["SMAD7 colorectal cancer", "colorectal cancer caused by mutation in SMAD7", "colorectal cancer, susceptibility to, 3", "colorectal cancer, susceptibility to, type 3"], "xref": ["GARD:0027816", "MEDGEN:436866", "OMIM:612229", "UMLS:C2677123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012821", "name": "Colorectal cancer, susceptibility to, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS5", "colorectal cancer, susceptibility to, 5"], "xref": ["GARD:0027817", "MEDGEN:393664", "OMIM:612230", "UMLS:C2677122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012822", "name": "Colorectal cancer, susceptibility to, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS6", "colorectal cancer, susceptibility to, 6"], "xref": ["GARD:0027818", "MEDGEN:436865", "OMIM:612231", "UMLS:C2677121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012823", "name": "Colorectal cancer, susceptibility to, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS7", "colorectal cancer, susceptibility to, 7"], "xref": ["GARD:0027819", "MEDGEN:394209", "OMIM:612232", "UMLS:C2677120"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.", "id": "MONDO:0012824", "name": "Hypomyelinating leukodystrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HLD4", "HSPD1 leukodystrophy", "MitCHAP60 disease", "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation", "hypomyelinating leukodystrophy type 4", "leukodystrophy caused by mutation in HSPD1", "leukodystrophy, hypomyelinating, type 4", "mitochondrial HSP60 chaperonopathy"], "xref": ["DOID:0060789", "GARD:0017294", "MEDGEN:383026", "MESH:C567390", "NANDO:1200581", "NANDO:2201293", "OMIM:612233", "Orphanet:280288", "UMLS:C2677109"]}
{"category": ["biolink:Disease"], "description": "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.", "id": "MONDO:0012825", "name": "Extraskeletal myxoid chondrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["extraosseous chondrosarcoma", "extraskeletal chondrosarcoma", "myxoid extraosseous chondrosarcoma", "myxoid extraskeletal chondrosarcoma"], "xref": ["DOID:6496", "GARD:0017105", "ICD9:171.9", "MEDGEN:220892", "MESH:C563195", "NCIT:C27502", "OMIM:612237", "ONCOTREE:EMCHS", "Orphanet:209916", "SCTID:404079008", "UMLS:C1275278"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.", "id": "MONDO:0012828", "name": "Atrial fibrillation, familial, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNA5 familial atrial fibrillation", "atrial fibrillation, familial, 7", "atrial fibrillation, familial, type 7", "familial atrial fibrillation caused by mutation in KCNA5"], "xref": ["GARD:0015545", "MEDGEN:393658", "MESH:C567389", "OMIM:612240", "UMLS:C2677106"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3", "id": "MONDO:0012829", "name": "Inflammatory bowel disease 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD12", "inflammatory bowel disease 12", "inflammatory bowel disease type 12"], "xref": ["DOID:0110887", "MEDGEN:436861", "MESH:C567388", "OMIM:612241", "UMLS:C2677105"]}
{"category": ["biolink:Disease"], "description": "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.", "id": "MONDO:0012830", "name": "Chromosome 10q23 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(10)(q22.3q23.3)", "deletion 10q22.3q23.3", "monosomy 10q22.3q23.3"], "xref": ["DOID:0060389", "GARD:0017280", "MEDGEN:906099", "MESH:C567385", "OMIM:612242", "Orphanet:276413", "UMLS:C4225669"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.", "id": "MONDO:0012831", "name": "Inflammatory bowel disease 13", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["ABCB1 inflammatory bowel disease", "IBD13", "inflammatory bowel disease 13", "inflammatory bowel disease caused by mutation in ABCB1", "inflammatory bowel disease type 13"], "xref": ["DOID:0110893", "MEDGEN:394202", "MESH:C567384", "OMIM:612244", "UMLS:C2677101"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.", "id": "MONDO:0012832", "name": "Inflammatory bowel disease 14", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["IBD14", "IRF5 inflammatory bowel disease", "inflammatory bowel disease 14", "inflammatory bowel disease caused by mutation in IRF5", "inflammatory bowel disease type 14"], "xref": ["DOID:0110895", "MEDGEN:436860", "MESH:C567383", "OMIM:612245", "UMLS:C2677100"]}
{"category": ["biolink:Disease"], "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).", "id": "MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAN", "Chronic kidney allograft nephropathy", "Crouzon-dermoskeletal syndrome", "Crouzonodermoskeletal syndrome", "chronic allograft nephropathy"], "xref": ["DOID:0111161", "GARD:0016810", "MEDGEN:394201", "MESH:C567382", "NCIT:C38145", "OMIM:612247", "Orphanet:93262", "SCTID:702361006", "UMLS:C2677099"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.", "id": "MONDO:0012837", "name": "Inflammatory bowel disease 15", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD15", "inflammatory bowel disease 15", "inflammatory bowel disease type 15"], "xref": ["DOID:0110897", "MEDGEN:383025", "MESH:C567381", "OMIM:612255", "UMLS:C2677094"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.", "id": "MONDO:0012838", "name": "Inflammatory bowel disease 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD16", "inflammatory bowel disease 16", "inflammatory bowel disease type 16"], "xref": ["DOID:0110896", "MEDGEN:383024", "MESH:C567380", "OMIM:612259", "UMLS:C2677093"]}
{"category": ["biolink:Disease"], "description": "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.", "id": "MONDO:0012839", "name": "Pyogenic bacterial infections due to myd88 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYD88D", "MyD88 deficiency", "immunodeficiency 68", "pyogenic bacterial infections, recurrent, due to MyD88 deficiency", "recurrent pyogenic bacterial infections due to MyD88 deficiency"], "xref": ["GARD:0012638", "MEDGEN:383023", "MESH:C567379", "NANDO:1200362", "NANDO:2200763", "OMIM:612260", "Orphanet:183713", "UMLS:C2677092", "icd11.foundation:444523526"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.", "id": "MONDO:0012840", "name": "Inflammatory bowel disease 17", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["IBD17", "IL23R inflammatory bowel disease", "inflammatory bowel disease 17", "inflammatory bowel disease 17, protection against", "inflammatory bowel disease caused by mutation in IL23R", "inflammatory bowel disease type 17"], "xref": ["DOID:0110883", "MEDGEN:436857", "MESH:C567378", "OMIM:612261", "UMLS:C2677091"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.", "id": "MONDO:0012841", "name": "Inflammatory bowel disease 18", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD18", "inflammatory bowel disease 18", "inflammatory bowel disease type 18"], "xref": ["DOID:0110888", "MEDGEN:393655", "MESH:C567377", "OMIM:612262", "UMLS:C2677090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012842", "name": "Melanoma, cutaneous malignant, susceptibility to, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CMM7", "melanoma, cutaneous malignant, 7", "melanoma, cutaneous malignant, susceptibility to, 7"], "xref": ["GARD:0027820", "MEDGEN:394200", "OMIM:612263", "UMLS:C2677089"]}
{"category": ["biolink:Disease"], "description": "A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.", "id": "MONDO:0012844", "name": "Primary ciliary dyskinesia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD8", "primary ciliary dyskinesia type 8"], "xref": ["DOID:0110616", "GARD:0015546", "MEDGEN:393653", "MESH:C567373", "OMIM:612274", "UMLS:C2677085"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.", "id": "MONDO:0012845", "name": "Inflammatory bowel disease 19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["IBD19", "IRGM inflammatory bowel disease", "inflammatory bowel disease (Crohn disease) 19", "inflammatory bowel disease 19", "inflammatory bowel disease caused by mutation in IRGM", "inflammatory bowel disease type 19"], "xref": ["DOID:0110890", "MEDGEN:393652", "MESH:C567372", "OMIM:612278", "UMLS:C2677079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012846", "name": "Generalized epilepsy with febrile seizures plus, type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFSP6", "generalized epilepsy with febrile seizures plus, type 6"], "xref": ["DOID:0111300", "GARD:0018663", "MEDGEN:394198", "MESH:C567371", "OMIM:612279", "UMLS:C2677078"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.", "id": "MONDO:0012847", "name": "Autosomal recessive congenital ichthyosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI6", "autosomal recessive congenital ichthyosis type 6", "ichthyosis, congenital, autosomal recessive type 6"], "xref": ["DOID:0060715", "GARD:0015547", "MEDGEN:436851", "OMIM:612281", "UMLS:C2677065"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.", "id": "MONDO:0012848", "name": "Meckel syndrome, type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CC2D2A Meckel syndrome", "MKS6", "Meckel syndrome caused by mutation in CC2D2A", "Meckel syndrome, type 6"], "xref": ["DOID:0070120", "GARD:0015548", "MEDGEN:382942", "MESH:C567365", "OMIM:612284", "UMLS:C2676790"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.", "id": "MONDO:0012849", "name": "Joubert syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CC2D2A Joubert syndrome", "JBTS9", "Joubert syndrome 9", "Joubert syndrome caused by mutation in CC2D2A", "Joubert syndrome type 9"], "xref": ["DOID:0111004", "GARD:0015549", "MEDGEN:382940", "MESH:C567364", "NCIT:C181002", "OMIM:612285", "UMLS:C2676788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012850", "name": "Hypophosphatemic nephrolithiasis/osteoporosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypophosphatemic nephrolithiasis/osteoporosis type 1", "nephrolithiasis/osteoporosis, hypophosphatemic, type 1"], "xref": ["DOID:0080077", "GARD:0018346", "MEDGEN:436776", "MESH:C567363", "OMIM:612286", "UMLS:C2676786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012851", "name": "Hypophosphatemic nephrolithiasis/osteoporosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypophosphatemic nephrolithiasis/osteoporosis type 2", "nephrolithiasis/osteoporosis, hypophosphatemic, type 2"], "xref": ["DOID:0080078", "GARD:0018347", "MEDGEN:394127", "MESH:C567362", "OMIM:612287", "UMLS:C2676782"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.", "id": "MONDO:0012852", "name": "Inflammatory bowel disease 20", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD20", "inflammatory bowel disease 20", "inflammatory bowel disease type 20"], "xref": ["DOID:0110898", "MEDGEN:394126", "MESH:C567361", "OMIM:612288", "UMLS:C2676781"]}
{"category": ["biolink:Disease"], "description": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.", "id": "MONDO:0012853", "name": "Fontaine progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPS", "Fontaine progeroid syndrome", "GCM syndrome", "GCMS", "Gorlin Chaudhry Moss syndrome", "Gorlin-Chaudhry-Moss Syndrome", "Gorlin-Chaudhry-Moss syndrome", "Petty syndrome", "Petty-Laxova-Wiedemann syndrome", "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora", "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome", "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome", "dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome", "progeroid syndrome Petty type", "progeroid syndrome congenital Petty type", "progeroid syndrome, Petty type"], "xref": ["DOID:0051067", "GARD:0004497", "ICD9:759.89", "MEDGEN:394125", "MESH:C537290", "NORD:1201", "OMIM:233500", "OMIM:612289", "Orphanet:2095", "Orphanet:2963", "Orphanet:697101", "SCTID:205800003", "UMLS:C2676780"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.", "id": "MONDO:0012854", "name": "Bilateral microtia-deafness-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microtia with or without hearing impairment (AD)", "microtia, hearing impairment, and cleft palate (AR)"], "xref": ["GARD:0016966", "MEDGEN:382936", "MESH:C567359", "OMIM:612290", "Orphanet:140963", "UMLS:C2676772"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.", "id": "MONDO:0012855", "name": "Joubert syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARL13B Joubert syndrome", "JBTS8", "Joubert syndrome 8", "Joubert syndrome caused by mutation in ARL13B", "Joubert syndrome type 8"], "xref": ["DOID:0111003", "GARD:0015550", "MEDGEN:436772", "MESH:C567358", "OMIM:612291", "UMLS:C2676771"]}
{"category": ["biolink:Disease"], "description": "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).", "id": "MONDO:0012856", "name": "Birk-barel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BIRK-Barel intellectual disability dysmorphism syndrome", "BIRK-Barel mental retardation dysmorphism syndrome", "Birk-Barel syndrome", "KCNK9 Imprinting Syndrome", "intellectual disability-hypotonia-facial dysmorphism syndrome"], "xref": ["DOID:0050675", "GARD:0010358", "MEDGEN:393583", "MESH:C567357", "NORD:1896", "OMIM:612292", "Orphanet:166108", "SCTID:764861005", "UMLS:C2676770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012857", "name": "Porokeratosis 5, disseminated superficial actinic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POROK5", "porokeratosis 5, disseminated superficial actinic", "porokeratosis 5, disseminated superficial actinic type"], "xref": ["GARD:0015551", "MEDGEN:382935", "MESH:C567356", "OMIM:612293", "UMLS:C2676769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012858", "name": "Primary cd59 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["primary CD59 deficiency"], "xref": ["GARD:0017054", "MEDGEN:393582", "MESH:C567355", "NANDO:2200804", "OMIM:612300", "Orphanet:169464", "UMLS:C2676767"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.", "id": "MONDO:0012859", "name": "Autosomal recessive osteopetrosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPTB7", "TNFRSF11A osteopetrosis (disease)", "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia", "autosomal recessive osteopetrosis type 7", "osteopetrosis (disease) caused by mutation in TNFRSF11A", "osteopetrosis, autosomal recessive type 7", "osteopetrosis-hypogammaglobulinemia syndrome"], "xref": ["DOID:0110946", "GARD:0010106", "MEDGEN:436770", "MESH:C567354", "OMIM:612301", "Orphanet:178389", "UMLS:C2676766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012860", "name": "Thrombophilia due to protein c deficiency, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombophilia 3 due to protein C deficiency, autosomal recessive", "thrombophilia due to protein C deficiency, autosomal recessive"], "xref": ["DOID:0111904", "GARD:0013041", "MEDGEN:394120", "MESH:C567353", "OMIM:612304", "UMLS:C2676759"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.", "id": "MONDO:0012861", "name": "Premature ovarian failure 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FIGLA primary ovarian failure", "premature ovarian failure 6", "premature ovarian failure type 6", "primary ovarian failure caused by mutation in FIGLA"], "xref": ["DOID:0080863", "GARD:0024891", "MEDGEN:394115", "MESH:C567351", "OMIM:612310", "UMLS:C2676742"]}
{"category": ["biolink:Disease"], "description": "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.", "id": "MONDO:0012864", "name": "Chromosome 2q32-q33 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(2)(q32)", "Del(2)(q32q33)", "chromosome 2q32-q33 deletion syndrome", "glass syndrome", "monosomy 2q32-q33", "monosomy 2q32q33"], "xref": ["DOID:0060428", "GARD:0013206", "MEDGEN:436765", "MESH:C567350", "OMIM:612313", "Orphanet:251019", "Orphanet:576283", "SCTID:719659003", "UMLS:C2676739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012865", "name": "Pseudofolliculitis barbae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["Pseudofolliculitis barbae"], "xref": ["ICD10CM:L73.1", "MEDGEN:107807", "MESH:C563016", "OMIM:612318", "UMLS:C0549150", "icd11.foundation:336055701"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.", "id": "MONDO:0012866", "name": "Hereditary spastic paraplegia 35", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FA2H hereditary spastic paraplegia", "SPG35", "autosomal recessive spastic paraplegia type 35", "hereditary spastic paraplegia 35", "hereditary spastic paraplegia caused by mutation in FA2H", "hereditary spastic paraplegia type 35"], "xref": ["DOID:0110786", "GARD:0010538", "MEDGEN:501249", "MESH:C567311", "NANDO:1200541", "OMIM:612319", "Orphanet:171629", "SCTID:764688002", "UMLS:C3496228"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.", "id": "MONDO:0012867", "name": "Hereditary spastic paraplegia 38", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG38", "autosomal dominant spastic paraplegia type 38", "hereditary spastic paraplegia type 38"], "xref": ["DOID:0110789", "GARD:0017065", "MEDGEN:436764", "MESH:C567349", "OMIM:612335", "Orphanet:171617", "UMLS:C2676732"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.", "id": "MONDO:0012868", "name": "Thrombophilia due to protein s deficiency, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant hereditary thrombophilia due to congenital protein S deficiency", "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant", "thrombophilia 5 due to protein S deficiency, autosomal dominant", "thrombophilia due to protein S deficiency, autosomal dominant"], "xref": ["DOID:0111900", "GARD:0018568", "MEDGEN:479841", "MESH:C567077", "MedDRA:10068370", "OMIM:612336", "Orphanet:26349", "UMLS:C3278211"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.", "id": "MONDO:0012869", "name": "Intellectual disability, autosomal dominant 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRD22", "ZBTB18 autosomal dominant non-syndromic intellectual disability", "autosomal dominant intellectual disability 22", "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18", "intellectual disability, autosomal dominant 22", "intellectual disability, autosomal dominant type 22", "mental retardation, autosomal dominant type 22"], "xref": ["DOID:0070052", "GARD:0024892", "MESH:C567346", "OMIM:612337"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012870", "name": "Chromosome 2q31.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 2q31.2 deletion syndrome"], "xref": ["DOID:0060416", "GARD:0024893", "MEDGEN:394109", "MESH:C567344", "OMIM:612345", "UMLS:C2676724"]}
{"category": ["biolink:Disease"], "description": "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.", "id": "MONDO:0012871", "name": "Jervell and lange-nielsen syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Jervell and Lange-Nielsen syndrome 2", "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1", "Jervell and Lange-Nielsen syndrome type 2", "KCNE1 Jervell and Lange-Nielsen syndrome"], "xref": ["GARD:0010364", "MEDGEN:394108", "MESH:C567343", "OMIM:612347", "UMLS:C2676723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012872", "name": "Thrombophilia, familial, due to decreased release of tissue plasminogen activator", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["THPH9", "hyperfibrinolysis, familial, due to increased release of plat", "thrombophilia, familial, due to decreased release of PLAT", "thrombophilia, familial, due to decreased release of tissue plasminogen activator"], "xref": ["DOID:0111906", "GARD:0024894", "MEDGEN:393574", "MESH:C567341", "OMIM:612348", "UMLS:C2676721"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.", "id": "MONDO:0012873", "name": "Ehlers-danlos syndrome, spondylocheirodysplastic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["EDS, spondylocheirodysplastic type"], "xref": ["DOID:0080739", "GARD:0012610", "MEDGEN:393515", "MESH:C567340", "OMIM:612350", "Orphanet:157965", "UMLS:C2676510", "icd11.foundation:1653521697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012874", "name": "Porokeratosis 6, disseminated superficial actinic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POROK6", "porokeratosis 6, disseminated superficial actinic type"], "xref": ["GARD:0015552", "MEDGEN:394063", "MESH:C567339", "OMIM:612353", "UMLS:C2676508"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.", "id": "MONDO:0012875", "name": "Inflammatory bowel disease 21", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD21", "inflammatory bowel disease 21", "inflammatory bowel disease type 21"], "xref": ["DOID:0110906", "MEDGEN:436705", "MESH:C567338", "OMIM:612354", "UMLS:C2676507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012876", "name": "Heparin cofactor 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["heparin cofactor 2 deficiency", "thrombophilia 10 due to heparin cofactor II deficiency"], "xref": ["DOID:0111901", "GARD:0024895", "ICD9:286.3", "MEDGEN:96017", "MESH:C562865", "OMIM:612356", "SCTID:234468009", "UMLS:C0398626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012877", "name": "Major affective disorder 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD8", "major affective disorder 8", "major affective disorder-8, susceptibility to"], "xref": ["MEDGEN:397794", "MESH:C567530", "OMIM:612357", "UMLS:C2700439"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.", "id": "MONDO:0012878", "name": "Cowden syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in SDHB", "Cowden syndrome 2", "Cowden syndrome type 2", "SDHB Cowden disease"], "xref": ["GARD:0024896", "MESH:C567337", "OMIM:612359"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.", "id": "MONDO:0012880", "name": "Hypogonadotropic hypogonadism 5 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CHD7 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 5 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in CHD7"], "xref": ["DOID:0090084", "GARD:0010773", "MEDGEN:765467", "MESH:C567220", "OMIM:612370", "UMLS:C3552553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012881", "name": "Major affective disorder 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["major affective disorder 7", "major affective disorder type 7", "major affective disorder-7, susceptibility to"], "xref": ["MEDGEN:438008", "MESH:C567529", "OMIM:612371", "UMLS:C2700438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012882", "name": "Major affective disorder 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MAFD9", "major affective disorder 9", "major affective disorder-9, susceptibility to"], "xref": ["MEDGEN:398108", "MESH:C567531", "OMIM:612372", "UMLS:C2700440"]}
{"category": ["biolink:Disease"], "description": "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.", "id": "MONDO:0012883", "name": "Acute promyelocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["(PML/RARalpha) and variants", "17)(q22", "AML M3", "AML with t(15", "APL", "APML", "APML - acute promyelocytic leukaemia", "APML - acute promyelocytic leukemia", "FAB M3", "PML-rara", "PML/rara", "acute myeloblastic leukaemia 3", "acute myeloblastic leukemia 3", "acute myeloid leukaemia with t(15", "acute myeloid leukemia with t(15", "acute promyelocytic leukaemia with PML-rara", "acute promyelocytic leukaemia with t(15", "acute promyelocytic leukemia", "acute promyelocytic leukemia with PML-rara", "acute promyelocytic leukemia with t(15", "leukemia, acute promyelocytic, somatic", "promyelocytic leukaemia", "promyelocytic leukemia", "q12)"], "xref": ["DOID:0060318", "DOID:0081081", "EFO:0000224", "GARD:0000538", "ICD10CM:C92.4", "ICDO:9866/3", "MEDGEN:44127", "MESH:D015473", "MedDRA:10001019", "NANDO:2200007", "NCIT:C3182", "NORD:2003", "OMIM:612376", "Orphanet:520", "SCTID:110004001", "UMLS:C0023487"]}
{"category": ["biolink:Disease"], "description": "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.", "id": "MONDO:0012885", "name": "Srd5a3-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Iq", "CDG-Iq", "CDG1Q", "SRD5A3-CDG", "SRD5A3-congenital disorder of glycosylation", "congenital disorder of glycosylation type 1q", "congenital disorder of glycosylation type Iq"], "xref": ["DOID:0080568", "GARD:0012397", "MEDGEN:1392124", "OMIM:612379", "Orphanet:324737", "SCTID:733601006", "UMLS:C4317224"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.", "id": "MONDO:0012886", "name": "Inflammatory bowel disease 22", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD22", "inflammatory bowel disease 22", "inflammatory bowel disease type 22"], "xref": ["DOID:0110905", "MEDGEN:382862", "MESH:C567327", "OMIM:612380", "UMLS:C2676485"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.", "id": "MONDO:0012887", "name": "Inflammatory bowel disease 23", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD23", "inflammatory bowel disease 23", "inflammatory bowel disease type 23"], "xref": ["DOID:0110884", "MEDGEN:382861", "MESH:C567326", "OMIM:612381", "UMLS:C2676484"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.", "id": "MONDO:0012890", "name": "Pontocerebellar hypoplasia type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TSEN2 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2", "pontocerebellar hypoplasia type 2B"], "xref": ["DOID:0060268", "GARD:0015553", "MEDGEN:393505", "MESH:C567325", "OMIM:612389", "UMLS:C2676466"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.", "id": "MONDO:0012891", "name": "Pontocerebellar hypoplasia type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TSEN34 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34"], "xref": ["DOID:0060269", "GARD:0015554", "MEDGEN:382856", "MESH:C567324", "OMIM:612390", "UMLS:C2676465"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.", "id": "MONDO:0012892", "name": "Bone fragility with contractures, arterial rupture, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone fragility with contractures, arterial rupture, and deafness", "bone fragility-contractures-arterial rupture-deafness syndrome", "connective tissue disorder due to LH3 deficiency", "connective tissue disorder due to lysyl hydroxylase-3 deficiency"], "xref": ["DOID:0061197", "GARD:0017362", "MEDGEN:382811", "MESH:C567320", "OMIM:612394", "Orphanet:300284", "SCTID:763318007", "UMLS:C2676285"]}
{"category": ["biolink:Disease"], "description": "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.", "id": "MONDO:0012895", "name": "Torsion dystonia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dystonia-17, primary torsion", "torsion dystonia type 17"], "xref": ["DOID:0090042", "GARD:0010536", "MEDGEN:391003", "MESH:C567319", "NANDO:1200530", "OMIM:612406", "Orphanet:370103", "UMLS:C2676281"]}
{"category": ["biolink:Disease"], "description": "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.", "id": "MONDO:0012897", "name": "Congenital factor xi deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTA deficiency", "Rosenthal factor deficiency", "Rosenthal syndrome", "Rosenthal's disease", "congenital factor XI deficiency", "factor XI deficiency, autosomal dominant", "factor XI deficiency, autosomal recessive", "haemophilia C", "hemophilia C", "hereditary Factor XI deficiency", "hereditary factor XI deficiency", "hereditary factor XI deficiency disease", "plasma thromboplastin antecedent deficiency"], "xref": ["DOID:2229", "GARD:0009670", "ICD10CM:D68.1", "ICD9:286.2", "MEDGEN:8770", "NCIT:C84705", "OMIM:612416", "Orphanet:329", "SCTID:49762007", "UMLS:C0015523", "icd11.foundation:413739466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012899", "name": "Alopecia, androgenetic, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGA3", "alopecia, androgenetic, 3"], "xref": ["GARD:0024897", "MEDGEN:382808", "MESH:C567317", "OMIM:612421", "UMLS:C2676272"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.", "id": "MONDO:0012900", "name": "Cardiomyopathy, familial restrictive, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TNNT2 familial isolated restrictive cardiomyopathy", "cardiomyopathy, familial restrictive, 3", "cardiomyopathy, familial restrictive, type 3", "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2"], "xref": ["DOID:0111427", "GARD:0018072", "MEDGEN:382807", "MESH:C567316", "OMIM:612422", "UMLS:C2676271"]}
{"category": ["biolink:Disease"], "description": "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0012901", "name": "Inherited prekallikrein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital prekallikrein deficiency", "fletcher factor (prekallikrein) deficiency", "hereditary prekallikrein deficiency"], "xref": ["GARD:0004477", "ICD9:286.9", "MESH:C562725", "NANDO:2200684", "OMIM:612423", "Orphanet:749"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.", "id": "MONDO:0012902", "name": "Autosomal dominant nonsyndromic hearing loss 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110556", "GARD:0018128", "MEDGEN:854637", "OMIM:612431", "UMLS:C3887929"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.", "id": "MONDO:0012903", "name": "Autosomal recessive nonsyndromic hearing loss 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110502", "GARD:0022628", "MEDGEN:854732", "OMIM:612433", "UMLS:C3888030"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.", "id": "MONDO:0012904", "name": "Epilepsy, progressive myoclonic, 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRICKLE1 progressive myoclonic epilepsy", "epilepsy, progressive myoclonic 1B", "epilepsy, progressive myoclonic, 1B", "epilepsy, progressive myoclonic, type 1B", "progressive myoclonic epilepsy caused by mutation in PRICKLE1"], "xref": ["DOID:0111448", "GARD:0015556", "ICD9:345.10", "MEDGEN:394003", "MESH:C580388", "OMIM:612437", "SCTID:702326000", "UMLS:C2676254"]}
{"category": ["biolink:Disease"], "description": "A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.", "id": "MONDO:0012905", "name": "Hypomyelinating leukodystrophy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["H-ABC", "HABC", "HLD6", "hypomyelinating leukodystrophy type 6", "hypomyelination with atrophy of basal ganglia and cerebellum", "leukodystrophy, hypomyelinating, type 6"], "xref": ["DOID:0060798", "GARD:0010917", "MEDGEN:436642", "MESH:C567314", "NANDO:1200578", "NANDO:2201290", "OMIM:612438", "Orphanet:139441", "UMLS:C2676244"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.", "id": "MONDO:0012906", "name": "Primary ciliary dyskinesia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD9", "DNAI2 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 9", "primary ciliary dyskinesia 9", "primary ciliary dyskinesia caused by mutation in DNAI2", "primary ciliary dyskinesia type 9"], "xref": ["DOID:0110622", "GARD:0015558", "MEDGEN:390990", "MESH:C567310", "OMIM:612444", "UMLS:C2676235"]}
{"category": ["biolink:Disease"], "description": "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.", "id": "MONDO:0012907", "name": "Blindness - scoliosis - arachnodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017070", "MEDGEN:436640", "MESH:C567309", "OMIM:612445", "Orphanet:171844", "SCTID:717920004", "UMLS:C2676234"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.", "id": "MONDO:0012908", "name": "Complement component 6 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C6 classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C6", "complement component 6 deficiency"], "xref": ["DOID:0060299", "GARD:0018291", "MEDGEN:436639", "NANDO:2200784", "OMIM:612446", "UMLS:C2676232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012909", "name": "Skeletal defects, genital hypoplasia, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["skeletal defects, genital hypoplasia, and intellectual disability", "skeletal defects, genital hypoplasia, and mental retardation"], "xref": ["MEDGEN:382795", "MESH:C567306", "OMIM:612447", "UMLS:C2676231"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012910", "name": "Age-related hearing impairment 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ARHI1", "age-related hearing impairment 1"], "xref": ["MEDGEN:382794", "MESH:C567305", "OMIM:612448", "UMLS:C2676230"]}
{"category": ["biolink:Disease"], "description": "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).", "id": "MONDO:0012911", "name": "Pseudohypoparathyroidism type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pseudohypoparathyroidism Ic"], "xref": ["DOID:0051013", "GARD:0010681", "MEDGEN:420958", "MESH:C548076", "NANDO:1201077", "OMIM:612462", "Orphanet:79444", "SCTID:717792007", "UMLS:C2932716", "icd11.foundation:1401673748"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).", "id": "MONDO:0012912", "name": "Pseudopseudohypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Albright hereditary osteodystrophy-PPHP syndrome", "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]", "aho-PPHP syndrome", "pseudopseudohypoparathyroidism"], "xref": ["DOID:4183", "GARD:0007860", "ICD9:275.49", "MEDGEN:10995", "MESH:D011556", "NANDO:2200348", "NCIT:C129722", "OMIM:612463", "Orphanet:665", "Orphanet:79445", "SCTID:237659007", "UMLS:C0033835", "icd11.foundation:245649135"]}
{"category": ["biolink:Disease"], "description": "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.", "id": "MONDO:0012913", "name": "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome", "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome", "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome"], "xref": ["GARD:0015559", "MEDGEN:382718", "MESH:C567292", "NCIT:C122804", "OMIM:612469", "UMLS:C2675904"]}
{"category": ["biolink:Disease"], "description": "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.", "id": "MONDO:0012914", "name": "Chromosome 1q21.1 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1q21.1 microdeletion syndrome", "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)", "Del(1)(q21)", "chromosome 1q21.1 deletion syndrome, isolated cases", "monosomy 1q21.1"], "xref": ["DECIPHER:62", "DOID:0060411", "GARD:0010813", "ICD9:758.33", "MEDGEN:393913", "MESH:C567291", "OMIM:612474", "Orphanet:250989", "SCTID:699305004", "UMLS:C2675897"]}
{"category": ["biolink:Disease"], "description": "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.", "id": "MONDO:0012915", "name": "Chromosome 1q21.1 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1q21.1 microduplication syndrome", "1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)", "chromosome 1q21.1 duplication syndrome", "chromosome 1q21.1 duplication syndrome, isolated cases", "dup(1)(q21.1)", "trisomy 1q21.1"], "xref": ["DECIPHER:67", "DOID:0060435", "GARD:0010591", "MEDGEN:382715", "MESH:C567290", "OMIM:612475", "Orphanet:250994", "UMLS:C2675891"]}
{"category": ["biolink:Disease"], "description": "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.", "id": "MONDO:0012916", "name": "Chromosome 2p16.1-p15 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2p15-p16.1 microdeletion syndrome", "2p15p16.1 microdeletion syndrome", "Del(2)(p15p16.1)", "chromosome 2p16.1-p15 deletion syndrome", "chromosome 2p16.1-p15 deletion syndrome, isolated cases", "monosomy 2p15-p16.1", "monosomy 2p15p16.1"], "xref": ["DECIPHER:70", "DOID:0060415", "GARD:0013391", "MEDGEN:390902", "MESH:C567289", "OMIM:612513", "Orphanet:261349", "SCTID:719651000", "UMLS:C2675875"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012917", "name": "Specific language impairment 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SLI4", "specific language impairment 4"], "xref": ["MEDGEN:393910", "MESH:C567288", "OMIM:612514", "UMLS:C2675874"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.", "id": "MONDO:0012918", "name": "Primary ciliary dyskinesia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD10", "DNAAF2 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 10", "primary ciliary dyskinesia caused by mutation in DNAAF2", "primary ciliary dyskinesia type 10"], "xref": ["DOID:0110612", "GARD:0015560", "MEDGEN:382707", "MESH:C567287", "OMIM:612518", "UMLS:C2675867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012922", "name": "Pyloric stenosis, infantile hypertrophic, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IHPS5", "infantile hypertrophic pyloric stenosis type 5", "pyloric stenosis, infantile hypertrophic, 5"], "xref": ["MEDGEN:390899", "MESH:C567283", "OMIM:612525", "UMLS:C2675862"]}
{"category": ["biolink:Disease"], "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.", "id": "MONDO:0012923", "name": "Congenital generalized lipodystrophy type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BSCL3", "CAV1 congenital generalised lipodystrophy (disease)", "CAV1 congenital generalized lipodystrophy (disease)", "CGL3", "congenital generalised lipodystrophy (disease) caused by mutation in CAV1", "congenital generalized lipodystrophy (disease) caused by mutation in CAV1"], "xref": ["DOID:0111137", "GARD:0013389", "MEDGEN:436541", "MESH:C567282", "OMIM:612526", "Orphanet:696206", "UMLS:C2675861"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.", "id": "MONDO:0012924", "name": "Diamond-blackfan anemia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 4", "Diamond-Blackfan Anemia type 4", "Diamond-Blackfan anaemia caused by mutation in RPS17", "Diamond-Blackfan anemia 4", "Diamond-Blackfan anemia caused by mutation in RPS17", "RPS17 Diamond-Blackfan anaemia", "RPS17 Diamond-Blackfan anemia"], "xref": ["DOID:0111890", "GARD:0015561", "MEDGEN:393906", "MESH:C567281", "NCIT:C176913", "OMIM:612527", "UMLS:C2675860"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.", "id": "MONDO:0012925", "name": "Diamond-blackfan anemia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 5", "Diamond-Blackfan Anemia type 5", "Diamond-Blackfan anaemia caused by mutation in RPL35A", "Diamond-Blackfan anemia 5", "Diamond-Blackfan anemia caused by mutation in RPL35A", "RPL35A Diamond-Blackfan anaemia", "RPL35A Diamond-Blackfan anemia"], "xref": ["DOID:0111883", "GARD:0015562", "MEDGEN:382705", "MESH:C567280", "NCIT:C176914", "OMIM:612528", "UMLS:C2675859"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.", "id": "MONDO:0012926", "name": "Amelogenesis imperfecta hypomaturation type 2a2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI2A2", "MMP20 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in MMP20", "amelogenesis imperfecta, type IIA2"], "xref": ["DOID:0110060", "GARD:0015563", "MEDGEN:436540", "MESH:C567279", "OMIM:612529", "UMLS:C2675858"]}
{"category": ["biolink:Disease"], "description": "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.", "id": "MONDO:0012927", "name": "Chromosome 1q41-q42 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1q41q42 microdeletion syndrome", "Del(1)(q41q42)", "chromosome 1q41-q42 deletion syndrome", "chromosome 1q41-q42 deletion syndrome, isolated cases", "monosomy 1q41-q42", "monosomy 1q41q42"], "xref": ["DOID:0060412", "GARD:0003738", "MEDGEN:382704", "OMIM:612530", "Orphanet:250999", "SCTID:716515000", "UMLS:C2675857"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.", "id": "MONDO:0012928", "name": "Hereditary spastic paraplegia 42", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC33A1 autosomal dominant pure spastic paraplegia", "SPG42", "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1", "autosomal dominant spastic paraplegia type 42", "hereditary spastic paraplegia type 42"], "xref": ["DOID:0110794", "GARD:0017073", "MEDGEN:393407", "MESH:C567262", "OMIM:612539", "Orphanet:171863", "SCTID:763070001", "UMLS:C2675528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012929", "name": "Compton-north congenital myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Compton-North congenital myopathy"], "xref": ["DOID:0080101", "GARD:0017111", "MEDGEN:393406", "MESH:C567261", "OMIM:612540", "Orphanet:210163", "UMLS:C2675527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012930", "name": "Autosomal recessive severe congenital neutropenia due to g6pc3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCN4", "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency", "neutropenia, severe congenital 4, autosomal recessive", "severe congenital neutropenia type 4", "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"], "xref": ["DOID:0112136", "GARD:0017511", "MEDGEN:414066", "OMIM:612541", "Orphanet:331176", "UMLS:C2751630"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012932", "name": "Myopia 16, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP16", "myopia 16", "myopia 16, autosomal dominant"], "xref": ["MEDGEN:390819", "MESH:C567259", "OMIM:612554", "UMLS:C2675523"]}
{"category": ["biolink:Disease"], "description": "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.", "id": "MONDO:0012933", "name": "Breast-ovarian cancer, familial, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BRCA2 hereditary breast ovarian cancer syndrome", "breast-ovarian cancer, familial, 2", "breast-ovarian cancer, familial, susceptibility to, 2", "breast-ovarian cancer, familial, susceptibility to, type 2", "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2"], "xref": ["GARD:0027821", "MEDGEN:382625", "OMIM:612555", "UMLS:C2675520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012934", "name": "Leukemia, chronic lymphocytic, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, chronic lymphocytic, susceptibility to, 3", "leukemia, chronic lymphocytic, susceptibility to, type 3"], "xref": ["GARD:0027822", "MEDGEN:382621", "OMIM:612557", "UMLS:C2675516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012935", "name": "Leukemia, chronic lymphocytic, susceptibility to, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, chronic lymphocytic susceptibility to, 4", "leukemia, chronic lymphocytic, susceptibility to, 4", "leukemia, chronic lymphocytic, susceptibility to, type 4"], "xref": ["GARD:0027823", "MEDGEN:382620", "OMIM:612558", "UMLS:C2675515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012936", "name": "Leukemia, chronic lymphocytic, susceptibility to, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, chronic lymphocytic susceptibility to, 5", "leukemia, chronic lymphocytic, susceptibility to, 5", "leukemia, chronic lymphocytic, susceptibility to, type 5"], "xref": ["GARD:0027824", "MEDGEN:436452", "OMIM:612559", "UMLS:C2675514"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.", "id": "MONDO:0012937", "name": "Diamond-blackfan anemia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 6", "Diamond-Blackfan Anemia type 6", "Diamond-Blackfan anaemia caused by mutation in RPL5", "Diamond-Blackfan anemia 6", "Diamond-Blackfan anemia caused by mutation in RPL5", "RPL5 Diamond-Blackfan anaemia", "RPL5 Diamond-Blackfan anemia"], "xref": ["DOID:0111879", "GARD:0015568", "MEDGEN:419918", "MESH:C538442", "NCIT:C176915", "OMIM:612561", "UMLS:C2931850"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.", "id": "MONDO:0012938", "name": "Diamond-blackfan anemia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 7", "Diamond-Blackfan Anemia type 7", "Diamond-Blackfan anaemia caused by mutation in RPL11", "Diamond-Blackfan anemia 7", "Diamond-Blackfan anemia caused by mutation in RPL11", "RPL11 Diamond-Blackfan anaemia", "RPL11 Diamond-Blackfan anemia"], "xref": ["DOID:0111878", "GARD:0015569", "MEDGEN:436451", "MESH:C567254", "NCIT:C176916", "OMIM:612562", "UMLS:C2675512"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.", "id": "MONDO:0012939", "name": "Diamond-blackfan anemia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 8", "Diamond-Blackfan Anemia type 8", "Diamond-Blackfan anaemia caused by mutation in RPS7", "Diamond-Blackfan anemia 8", "Diamond-Blackfan anemia caused by mutation in RPS7", "RPS7 Diamond-Blackfan anaemia", "RPS7 Diamond-Blackfan anemia"], "xref": ["DOID:0111881", "GARD:0015570", "MEDGEN:390817", "MESH:C567253", "NCIT:C176917", "OMIM:612563", "UMLS:C2675511"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.", "id": "MONDO:0012940", "name": "Inflammatory bowel disease 24", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD24", "inflammatory bowel disease 24", "inflammatory bowel disease type 24"], "xref": ["DOID:0110908", "MEDGEN:393404", "MESH:C567252", "OMIM:612566", "UMLS:C2675509"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.", "id": "MONDO:0012941", "name": "Inflammatory bowel disease 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IBD25", "IL10RB inflammatory bowel disease", "inflammatory bowel disease 25, early onset, autosomal recessive", "inflammatory bowel disease caused by mutation in IL10RB", "inflammatory bowel disease type 25"], "xref": ["DOID:0110909", "GARD:0018342", "MEDGEN:393403", "MESH:C567251", "NANDO:2200448", "OMIM:612567", "UMLS:C2675508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012942", "name": "Lung cancer susceptibility 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["LNCR3", "lung cancer susceptibility 3"], "xref": ["GARD:0027825", "MEDGEN:382615", "OMIM:612571", "UMLS:C2675497"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.", "id": "MONDO:0012943", "name": "Retinitis pigmentosa 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IDH3B retinitis pigmentosa", "RP46", "retinitis pigmentosa 46", "retinitis pigmentosa caused by mutation in IDH3B", "retinitis pigmentosa type 46"], "xref": ["DOID:0110409", "GARD:0015571", "MEDGEN:382614", "MESH:C567249", "OMIM:612572", "UMLS:C2675496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012944", "name": "Chromosome 17p13.3, telomeric, duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 17P13.3, telomeric, duplication syndrome"], "xref": ["GARD:0015572", "MEDGEN:390813", "MESH:C567245", "OMIM:612576", "UMLS:C2675492"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.", "id": "MONDO:0012945", "name": "Amyotrophic lateral sclerosis type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS11", "FIG4 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 11", "amyotrophic lateral sclerosis caused by mutation in FIG4", "amyotrophic lateral sclerosis type 11"], "xref": ["DOID:0060202", "GARD:0010496", "MEDGEN:393399", "MESH:C567244", "OMIM:612577", "UMLS:C2675491"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.", "id": "MONDO:0012946", "name": "Intellectual disability, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDH15 autosomal dominant non-syndromic intellectual disability", "MRD3", "autosomal dominant intellectual disability 3", "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15", "intellectual disability, autosomal dominant 3", "intellectual disability, autosomal dominant type 3", "mental retardation, autosomal dominant type 3"], "xref": ["DOID:0070033", "GARD:0016454", "MEDGEN:436447", "MESH:C567241", "OMIM:612580", "UMLS:C2675488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012947", "name": "Intellectual disability, autosomal dominant 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KIRREL3 autosomal dominant non-syndromic intellectual disability", "MRD4", "autosomal dominant intellectual disability 4", "intellectual disability, autosomal dominant 4", "intellectual disability, autosomal dominant type 4", "mental retardation, autosomal dominant type 4"], "xref": ["DOID:0070034", "GARD:0016455", "MEDGEN:393397", "MESH:C567240", "OMIM:612581", "UMLS:C2675487"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.", "id": "MONDO:0012948", "name": "Chromosome 6pter-p24 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["6p subtelomeric deletion syndrome", "6p25 microdeletion syndrome", "chromosome 6pter-p24 deletion syndrome", "chromosome 6pter-p24 deletion syndrome, isolated cases", "distal deletion 6p", "distal monosomy type 6p", "monosomy 6p25"], "xref": ["DOID:0060422", "GARD:0016845", "MEDGEN:393396", "MESH:C567239", "OMIM:612582", "Orphanet:96125", "SCTID:718688008", "UMLS:C2675486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012949", "name": "Aneurysm, intracranial berry, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB9"], "xref": ["DOID:0080972", "GARD:0018327", "MEDGEN:393395", "MESH:C567238", "OMIM:612586", "UMLS:C2675485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012950", "name": "Aneurysm, intracranial berry, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB10"], "xref": ["DOID:0080973", "GARD:0018328", "MEDGEN:390811", "MESH:C567237", "OMIM:612587", "UMLS:C2675484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012951", "name": "Colorectal cancer, susceptibility to, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS8", "colorectal cancer, susceptibility to, 8"], "xref": ["GARD:0027826", "MEDGEN:436446", "OMIM:612589", "UMLS:C2675483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012952", "name": "Colorectal cancer, susceptibility to, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS9", "colorectal cancer, susceptibility to, 9"], "xref": ["GARD:0027827", "MEDGEN:390810", "OMIM:612590", "UMLS:C2675482"]}
{"category": ["biolink:Disease"], "description": "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.", "id": "MONDO:0012953", "name": "Colorectal cancer, susceptibility to, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["POLD1 colorectal cancer", "colorectal cancer caused by mutation in POLD1", "colorectal cancer, susceptibility to, 10", "colorectal cancer, susceptibility to, type 10"], "xref": ["GARD:0027828", "MEDGEN:436445", "OMIM:612591", "UMLS:C2675481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012954", "name": "Colorectal cancer, susceptibility to, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS11", "colorectal cancer, susceptibility to, 11"], "xref": ["GARD:0027829", "MEDGEN:390809", "OMIM:612592", "UMLS:C2675480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012955", "name": "Lung cancer susceptibility 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["LNCR4", "lung cancer susceptibility 4"], "xref": ["GARD:0027830", "MEDGEN:390808", "OMIM:612593", "UMLS:C2675479"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.", "id": "MONDO:0012960", "name": "Intellectual disability, autosomal dominant 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRD5", "SYNGAP1 autosomal dominant non-syndromic intellectual disability", "SYNGAP1-related developmental and epileptic encephalopathy", "autosomal dominant intellectual disability 5", "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1", "epilepsy due to SYNGAP mutations", "intellectual disability, autosomal dominant 5", "intellectual disability, autosomal dominant type 5", "mental retardation, autosomal dominant type 5"], "xref": ["DOID:0070035", "GARD:0012558", "MEDGEN:382611", "MESH:C567234", "OMIM:612621", "Orphanet:544254", "UMLS:C2675473"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.", "id": "MONDO:0012964", "name": "Chromosome 15q26-qter deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["15q26 deletion syndrome", "Drayer syndrome", "chromosome 15q26-qter deletion syndrome", "chromosome 15q26-qter deletion syndrome, isolated cases", "distal monosomy 15q", "distal monosomy type 15q", "monosomy 15q26", "telomeric 15q deletion syndrome"], "xref": ["DOID:0060397", "GARD:0016572", "MEDGEN:390804", "MESH:C567232", "OMIM:612626", "Orphanet:1596", "SCTID:766050000", "UMLS:C2675463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012965", "name": "Seizures, benign familial infantile, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BFIS4", "seizures, benign familial infantile, 4"], "xref": ["DOID:0081117", "GARD:0016505", "MEDGEN:436440", "MESH:C567231", "OMIM:612627", "UMLS:C2675462"]}
{"category": ["biolink:Disease"], "description": "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.", "id": "MONDO:0012967", "name": "Hemolytic anemia due to adenylate kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenylate kinase deficiency, hemolytic anaemia due to", "adenylate kinase deficiency, hemolytic anemia due to"], "xref": ["DOID:0051004", "GARD:0016760", "MEDGEN:390802", "MESH:C567228", "OMIM:612631", "Orphanet:86817", "SCTID:766982000", "UMLS:C2675459"]}
{"category": ["biolink:Disease"], "description": "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.", "id": "MONDO:0012968", "name": "Usher syndrome type 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1H", "Usher syndrome, type 1H"], "xref": ["DOID:0110835", "GARD:0015573", "MEDGEN:393392", "MESH:C567227", "OMIM:612632", "UMLS:C2675458"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012972", "name": "Febrile seizures, familial, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB10", "febrile seizures, familial, 10"], "xref": ["DOID:0111304", "MEDGEN:390747", "MESH:C567218", "OMIM:612637", "UMLS:C2675251"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.", "id": "MONDO:0012973", "name": "Inflammatory bowel disease 26", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD26", "inflammatory bowel disease 26", "inflammatory bowel disease type 26"], "xref": ["DOID:0110901", "MEDGEN:382561", "MESH:C567217", "OMIM:612639", "UMLS:C2675249"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.", "id": "MONDO:0012974", "name": "Autosomal dominant nonsyndromic hearing loss 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110583", "GARD:0018129", "MEDGEN:390743", "MESH:C567216", "OMIM:612642", "UMLS:C2675238"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.", "id": "MONDO:0012975", "name": "Autosomal dominant nonsyndromic hearing loss 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110565", "GARD:0018130", "MEDGEN:436382", "MESH:C567215", "OMIM:612643", "UMLS:C2675237"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.", "id": "MONDO:0012976", "name": "Autosomal dominant nonsyndromic hearing loss 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110559", "GARD:0018131", "MEDGEN:390742", "MESH:C567214", "OMIM:612644", "UMLS:C2675236"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.", "id": "MONDO:0012977", "name": "Autosomal recessive nonsyndromic hearing loss 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110476", "GARD:0022629", "GTR:AN1075764", "MEDGEN:436381", "MESH:C567213", "OMIM:612645", "UMLS:C2675235"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.", "id": "MONDO:0012978", "name": "Primary ciliary dyskinesia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD11", "RSPH4A primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 11", "primary ciliary dyskinesia 11", "primary ciliary dyskinesia caused by mutation in RSPH4A", "primary ciliary dyskinesia type 11"], "xref": ["DOID:0110602", "GARD:0015574", "MEDGEN:390741", "MESH:C567212", "OMIM:612649", "UMLS:C2675229"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.", "id": "MONDO:0012979", "name": "Primary ciliary dyskinesia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD12", "RSPH9 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 12", "primary ciliary dyskinesia caused by mutation in RSPH9", "primary ciliary dyskinesia type 12"], "xref": ["DOID:0110601", "GARD:0015575", "MEDGEN:436379", "MESH:C567211", "OMIM:612650", "UMLS:C2675228"]}
{"category": ["biolink:Disease"], "description": "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.", "id": "MONDO:0012980", "name": "Endocrine-cerebro-osteodysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ECO syndrome"], "xref": ["DOID:0060641", "GARD:0017094", "MEDGEN:390740", "MESH:C567210", "OMIM:612651", "Orphanet:199332", "SCTID:723309006", "UMLS:C2675227", "icd11.foundation:413985102"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.", "id": "MONDO:0012981", "name": "Hereditary spherocytosis type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HS4", "SLC4A1 hereditary spherocytosis", "SPH4", "hereditary spherocytosis caused by mutation in SLC4A1"], "xref": ["DOID:0110919", "GARD:0015576", "MEDGEN:436375", "MESH:C567208", "OMIM:612653", "UMLS:C2675212"]}
{"category": ["biolink:Disease"], "description": "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.", "id": "MONDO:0012982", "name": "Episodic ataxia type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC1A3 hereditary episodic ataxia", "episodic ataxia type 6", "hereditary episodic ataxia caused by mutation in SLC1A3"], "xref": ["DOID:0050994", "GARD:0017107", "MEDGEN:390739", "MESH:C567207", "OMIM:612656", "Orphanet:209967", "SCTID:718753002", "UMLS:C2675211", "icd11.foundation:1493336901"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.", "id": "MONDO:0012983", "name": "Cone-rod dystrophy 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD12", "PROM1 cone-rod dystrophy", "cone-rod dystrophy 12", "cone-rod dystrophy caused by mutation in PROM1", "cone-rod dystrophy type 12"], "xref": ["DOID:0111019", "GARD:0015577", "MEDGEN:393334", "MESH:C567206", "OMIM:612657", "UMLS:C2675210"]}
{"category": ["biolink:Disease"], "description": "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.", "id": "MONDO:0012984", "name": "Pharc syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHARC syndrome", "peripheral neuropathy, Fiskerstrand type"], "xref": ["DOID:0080181", "GARD:0017071", "MEDGEN:436373", "MESH:C567203", "OMIM:612674", "Orphanet:171848", "SCTID:723452007", "UMLS:C2675204"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.", "id": "MONDO:0012985", "name": "Hereditary spherocytosis type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPB42 hereditary spherocytosis", "HS5", "SPH5", "hereditary spherocytosis caused by mutation in EPB42", "hereditary spherocytosis type 5"], "xref": ["DOID:0110920", "GARD:0015578", "MEDGEN:436371", "MESH:C567202", "OMIM:612690", "UMLS:C2675192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012986", "name": "Bilateral parasagittal parieto-occipital polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080923", "GARD:0010785", "MEDGEN:862085", "MESH:C567201", "OMIM:612691", "Orphanet:208441", "UMLS:C4013648", "icd11.foundation:293410499"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.", "id": "MONDO:0012987", "name": "Agammaglobulinemia 6, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CD79B autosomal agammaglobulinemia", "agammaglobulinemia 6, autosomal recessive", "autosomal agammaglobulinemia caused by mutation in CD79B"], "xref": ["DOID:0081138", "GARD:0015579", "MEDGEN:461557", "OMIM:612692", "UMLS:C3150207"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.", "id": "MONDO:0012988", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FGF8 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 6 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in FGF8"], "xref": ["DOID:0090086", "GARD:0010774", "MEDGEN:765488", "MESH:C567199", "OMIM:612702", "UMLS:C3552574"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.", "id": "MONDO:0012989", "name": "Microcephaly 7, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["STIL autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in STIL", "microcephaly 7, primary, autosomal recessive"], "xref": ["DOID:0070278", "GARD:0015580", "MEDGEN:436370", "MESH:C567198", "OMIM:612703", "UMLS:C2675187"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.", "id": "MONDO:0012990", "name": "Leber congenital amaurosis 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA13", "Leber congenital amaurosis 13", "Leber congenital amaurosis caused by mutation in RDH12", "Leber congenital amaurosis type 13", "RDH12 Leber congenital amaurosis"], "xref": ["DOID:0110330", "GARD:0010882", "MEDGEN:382544", "MESH:C567197", "OMIM:612712", "UMLS:C2675186"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.", "id": "MONDO:0012991", "name": "Kahrizi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Kahrizi syndrome"], "xref": ["DOID:0050807", "MEDGEN:382543", "MESH:C567196", "OMIM:612713", "Orphanet:168972", "UMLS:C2675185"]}
{"category": ["biolink:Disease"], "description": "A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.", "id": "MONDO:0012992", "name": "Pancreatic insufficiency-anemia-hyperostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome"], "xref": ["GARD:0017095", "MEDGEN:436369", "MESH:C567195", "OMIM:612714", "Orphanet:199337", "SCTID:722207000", "UMLS:C2675184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012993", "name": "Dyschromatosis universalis hereditaria 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dyschromatosis universalis hereditaria 2"], "xref": ["GARD:0015581", "MEDGEN:382542", "MESH:C567194", "OMIM:612715", "UMLS:C2675183"]}
{"category": ["biolink:Disease"], "description": "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.", "id": "MONDO:0012994", "name": "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DRD due to SRD", "DYT-SPR", "SPR deficiency", "SRD", "Sepiapterin Reductase Deficiency", "autosomal recessive sepiapterin reductase-deficient DRD", "dopa-responsive dystonia due to sepiapterin reductase deficiency", "sepiapterin reductase deficiency"], "xref": ["DOID:0111168", "GARD:0010365", "ICD9:277.89", "MEDGEN:120642", "MESH:C562657", "NANDO:1200982", "NORD:1885", "OMIM:612716", "Orphanet:70594", "SCTID:45116002", "UMLS:C0268468"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012995", "name": "Myopia 15, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP15", "myopia 15, autosomal dominant"], "xref": ["MEDGEN:393323", "MESH:C567193", "OMIM:612717", "UMLS:C2675180"]}
{"category": ["biolink:Disease"], "description": "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.", "id": "MONDO:0012996", "name": "Agat deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AGAT deficiency", "CCDS3", "GATM deficiency", "L-arginine:glycine amidinotransferase deficiency", "arginine:glycine amidinotransferase deficiency", "cerebral creatine deficiency syndrome 3", "cerebral creatine deficiency syndrome type 3", "creatine deficiency syndrome due to AGAT deficiency", "disorder of glycine amidinotransferase activity", "glycine amidinotransferase activity disease"], "xref": ["DOID:0050712", "GARD:0010323", "ICD9:270.8", "MEDGEN:436367", "MESH:C567192", "NANDO:1201033", "NANDO:2201299", "OMIM:612718", "Orphanet:35704", "SCTID:702440000", "UMLS:C2675179"]}
{"category": ["biolink:Disease"], "description": "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.", "id": "MONDO:0012997", "name": "Cholestasis-pigmentary retinopathy-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hardikar syndrome"], "xref": ["GARD:0009280", "MEDGEN:208652", "MESH:C535632", "OMIM:301068", "OMIM:612726", "Orphanet:1415", "SCTID:720636001", "UMLS:C0795969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0012998", "name": "Faciocardiomelic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["faciocardiomelic syndrome"], "xref": ["MEDGEN:436265", "MESH:C567176", "OMIM:612731", "UMLS:C2674798"]}
{"category": ["biolink:Disease"], "description": "A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.", "id": "MONDO:0012999", "name": "Guanidinoacetate methyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GAMT deficiency", "cerebral creatine deficiency syndrome 2", "cerebral creatine deficiency syndrome type 2", "disorder of guanidinoacetate N-methyltransferase activity", "guanidinoacetate N-methyltransferase activity disease", "guanidinoacetate methyltransferase deficiency"], "xref": ["DOID:0050799", "GARD:0002578", "ICD9:277.6", "MEDGEN:154356", "MESH:C537622", "NANDO:1201034", "NANDO:2201300", "NORD:1967", "OMIM:612736", "Orphanet:382", "SCTID:124239003", "UMLS:C0574080", "icd11.foundation:1811642217"]}
{"category": ["biolink:Disease"], "description": "A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented.", "id": "MONDO:0013000", "name": "Porphyria due to ala dehydratase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALAD Porphyria", "ALAD porphyria", "ALAD-related hepatic porphyria", "ALAD-related porphyria", "acute hepatic porphyria", "porphyria due to ALAD deficiency", "porphyria due to delta-aminolevulinate dehydratase deficiency", "porphyria of Doss"], "xref": ["GARD:0016937", "MEDGEN:78659", "MESH:C562618", "NCIT:C133887", "NORD:747", "OMIM:612740", "Orphanet:100924", "UMLS:C0268328"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.", "id": "MONDO:0013002", "name": "Cone-rod dystrophy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADAM9 cone-rod dystrophy", "CORD9", "cone-rod dystrophy 9", "cone-rod dystrophy caused by mutation in ADAM9", "cone-rod dystrophy type 9"], "xref": ["DOID:0111020", "GARD:0015582", "MEDGEN:244692", "OMIM:612775", "UMLS:C1423873"]}
{"category": ["biolink:Disease"], "description": "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).", "id": "MONDO:0013003", "name": "Isolated congenital hypoglossia/aglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016972", "MEDGEN:411249", "OMIM:612776", "Orphanet:141152", "UMLS:C2748587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013004", "name": "Hypotonia, seizures, and precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypotonia, seizures, and precocious puberty"], "xref": ["MEDGEN:411248", "MESH:C567566", "OMIM:612777", "UMLS:C2748586"]}
{"category": ["biolink:Disease"], "description": "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).", "id": "MONDO:0013005", "name": "East syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EAST syndrome", "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance", "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome", "sesame syndrome"], "xref": ["DOID:0060484", "GARD:0010514", "MEDGEN:411243", "MESH:C557674", "OMIM:612780", "Orphanet:199343", "SCTID:721207002", "UMLS:C2748572"]}
{"category": ["biolink:Disease"], "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.", "id": "MONDO:0013006", "name": "Isolated growth hormone deficiency type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["congenital IGHD type IB", "congenital isolated GH deficiency type IB", "congenital isolated growth hormone deficiency type IB", "dwarfism of Sindh", "growth hormone deficiency, isolated, type IB"], "xref": ["DOID:0060874", "GARD:0003919", "MEDGEN:411242", "MESH:C567564", "OMIM:612781", "Orphanet:231671", "UMLS:C2748571"]}
{"category": ["biolink:Disease"], "description": "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.", "id": "MONDO:0013007", "name": "Combined immunodeficiency due to orai1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CID due to ORAI1 deficiency", "immunodeficiency type 9"], "xref": ["DOID:0111976", "GARD:0010524", "MEDGEN:440578", "MESH:C557826", "OMIM:612782", "Orphanet:317428", "UMLS:C2748568", "icd11.foundation:677672007"]}
{"category": ["biolink:Disease"], "description": "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.", "id": "MONDO:0013008", "name": "Combined immunodeficiency due to stim1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CID due to STIM1 deficiency", "immunodeficiency type 10"], "xref": ["DOID:0111970", "GARD:0010523", "MEDGEN:440575", "MESH:C557827", "OMIM:612783", "Orphanet:317430", "UMLS:C2748557", "icd11.foundation:8644198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013009", "name": "Megarbane-jalkh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Megarbane-Jalkh syndrome"], "xref": ["MEDGEN:412581", "MESH:C548071", "OMIM:612785", "UMLS:C2748555"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.", "id": "MONDO:0013010", "name": "Autosomal recessive nonsyndromic hearing loss 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110522", "GARD:0022630", "MEDGEN:411609", "MESH:C567562", "OMIM:612789", "UMLS:C2748554"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.", "id": "MONDO:0013011", "name": "Atrial septal defect 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTC1 atrial heart septal defect", "ASD5", "atrial heart septal defect caused by mutation in ACTC1", "atrial heart septal defect type 5", "atrial septal defect 5", "atrial septal defect type 5"], "xref": ["DOID:0110110", "GARD:0024898", "MEDGEN:412580", "MESH:C567561", "OMIM:612794", "UMLS:C2748552"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3", "id": "MONDO:0013012", "name": "Inflammatory bowel disease 27", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD27", "inflammatory bowel disease 27", "inflammatory bowel disease type 27"], "xref": ["DOID:0110902", "MEDGEN:412579", "MESH:C567559", "OMIM:612796", "UMLS:C2748550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013013", "name": "Question mark ears, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["question mark ears, isolated"], "xref": ["GARD:0015583", "MEDGEN:411238", "OMIM:612798", "UMLS:C2748545"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.", "id": "MONDO:0013014", "name": "Spondyloepimetaphyseal dysplasia, aggrecan type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD, aggrecan type", "spondyloepimetaphyseal dysplasia, aggrecan type"], "xref": ["GARD:0010513", "MEDGEN:411237", "MESH:C567558", "OMIM:612813", "Orphanet:171866", "SCTID:719165004", "UMLS:C2748544", "icd11.foundation:1133152894"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.", "id": "MONDO:0013015", "name": "Brugada syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA5", "Brugada syndrome 5", "Brugada syndrome caused by mutation in SCN1B", "Brugada syndrome type 5", "SCN1B Brugada syndrome"], "xref": ["DOID:0110222", "GARD:0015584", "MEDGEN:411607", "OMIM:612838", "UMLS:C2748541"]}
{"category": ["biolink:Disease"], "description": "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.", "id": "MONDO:0013016", "name": "Leukocyte adhesion deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FERMT3 leukocyte adhesion deficiency", "IADD", "LAD-III", "LAD1V", "LAD3", "integrin activation deficiency disease", "lad-1 variant", "lad-III", "leukocyte adhesion deficiency 1 variant", "leukocyte adhesion deficiency 3", "leukocyte adhesion deficiency caused by mutation in FERMT3", "leukocyte adhesion deficiency type 3", "leukocyte adhesion deficiency type III", "leukocyte adhesion deficiency-1 variant"], "xref": ["DOID:0110912", "GARD:0016915", "MEDGEN:411605", "MESH:C567555", "OMIM:612840", "Orphanet:99844", "UMLS:C2748536"]}
{"category": ["biolink:Disease"], "description": "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.", "id": "MONDO:0013017", "name": "Hypotrichosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HYPT5", "MUHH2", "Marie Unna hereditary hypotrichosis 2", "Muhh2", "hypotrichosis 5", "hypotrichosis type 5", "hypt5"], "xref": ["DOID:0110702", "GARD:0015585", "MEDGEN:440568", "MESH:C567554", "OMIM:612841", "UMLS:C2748535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013018", "name": "Keratosis follicularis spinulosa decalvans, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["keratosis follicularis spinulosa decalvans, autosomal dominant"], "xref": ["DOID:0080755", "GARD:0015586", "MEDGEN:412573", "MESH:C567553", "OMIM:612843", "UMLS:C2748527"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.", "id": "MONDO:0013021", "name": "Sterile multifocal osteomyelitis with periostitis and pustulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIRA", "Interleukin-1 receptor antagonist deficiency", "OMPP", "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency", "deficiency of the Interleukin-1 receptor antagonist"], "xref": ["DOID:0061225", "GARD:0010516", "MEDGEN:411230", "MESH:C557815", "NANDO:2200439", "NCIT:C119056", "OMIM:612852", "Orphanet:210115", "UMLS:C2748507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013023", "name": "Orofacial cleft 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OFC12", "orofacial cleft 12"], "xref": ["DOID:0080405", "MEDGEN:411596", "MESH:C567548", "OMIM:612858", "UMLS:C2748505"]}
{"category": ["biolink:Disease"], "description": "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.", "id": "MONDO:0013024", "name": "Chronic thromboembolic pulmonary hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CTEPH"], "xref": ["GARD:0013124", "ICD10CM:I27.24", "ICD9:415.19", "ICD9:416.8", "MEDGEN:440560", "MedDRA:10068739", "NANDO:1200429", "OMIM:612862", "Orphanet:70591", "SCTID:233947005", "UMLS:C2748504", "icd11.foundation:1567490107"]}
{"category": ["biolink:Disease"], "description": "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.", "id": "MONDO:0013025", "name": "Chromosome 6q24-q25 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(6)(q25)", "chromosome 6q24-q25 deletion syndrome", "chromosome 6q25-q25 deletion syndrome"], "xref": ["DOID:0060424", "GARD:0003764", "MEDGEN:461565", "NCIT:C36470", "OMIM:612863", "Orphanet:251056", "SCTID:719663005", "UMLS:C3150215"]}
{"category": ["biolink:Disease"], "description": "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.", "id": "MONDO:0013026", "name": "Subepithelial mucinous corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMCD", "subepithelial mucinous corneal dystrophy"], "xref": ["DOID:0060454", "GARD:0016878", "MEDGEN:411595", "MESH:C567547", "OMIM:612867", "Orphanet:98959", "SCTID:723582004", "UMLS:C2748503", "icd11.foundation:943706174"]}
{"category": ["biolink:Disease"], "description": "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.", "id": "MONDO:0013027", "name": "Posterior amorphous corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PACD", "posterior amorphous corneal dystrophy", "posterior amorphous stromal dystrophy"], "xref": ["DOID:0060452", "GARD:0016880", "MEDGEN:412567", "MESH:C567546", "OMIM:612868", "Orphanet:98971", "SCTID:719296002", "UMLS:C2748502", "icd11.foundation:347556972"]}
{"category": ["biolink:Disease"], "description": "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.", "id": "MONDO:0013028", "name": "Adenosine monophosphate deaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMP deaminase deficiency", "myoadenylate deaminase deficiency"], "xref": ["GARD:0000547", "ICD10CM:E79.2", "ICD9:277.2", "MEDGEN:444140", "MESH:C538234", "Orphanet:45", "SCTID:9105005", "UMLS:C2931781", "icd11.foundation:550341491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013029", "name": "Spinocerebellar ataxia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCA9", "cerebellar ataxia type 9", "spinocerebellar ataxia 9", "spinocerebellar ataxia type 9"], "xref": ["DOID:0111747", "GARD:0010481", "MEDGEN:854704", "OMIM:612876", "UMLS:C3887996"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.", "id": "MONDO:0013030", "name": "Dilated cardiomyopathy 1bb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1BB", "DSG2 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Bb", "dilated cardiomyopathy type 1BB", "familial isolated dilated cardiomyopathy caused by mutation in DSG2"], "xref": ["DOID:0110458", "GARD:0015588", "MEDGEN:414552", "MESH:C567877", "OMIM:612877", "UMLS:C2752072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013031", "name": "Chromosome 5q14.3 deletion syndrome, distal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 5Q14.3 deletion syndrome, distal"], "xref": ["GARD:0015589", "MEDGEN:442882", "MESH:C567876", "OMIM:612881", "UMLS:C2752071"]}
{"category": ["biolink:Disease"], "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.", "id": "MONDO:0013033", "name": "Cerebral palsy, spastic quadriplegic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KANK1 spastic quadriplegia", "cerebral palsy, spastic quadriplegic, 2", "cerebral palsy, spastic quadriplegic, type 2", "spastic quadriplegia caused by mutation in KANK1"], "xref": ["DOID:0081360", "GARD:0018309", "MEDGEN:442880", "MESH:C567867", "OMIM:612900", "UMLS:C2752061"]}
{"category": ["biolink:Disease"], "description": "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.", "id": "MONDO:0013034", "name": "Keratosis palmoplantaris striata 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSP striate palmoplantar keratoderma", "keratosis palmoplantaris striata type 2", "striate palmoplantar keratoderma caused by mutation in DSP"], "xref": ["DOID:0081109", "GARD:0015590", "MEDGEN:343725", "MESH:C565102", "OMIM:612908", "UMLS:C1852127"]}
{"category": ["biolink:Disease"], "description": "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.", "id": "MONDO:0013035", "name": "Orofaciodigital syndrome xi", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OFD11", "oral-facial-digital syndrome type 11", "oral-facial-digital syndrome, Gabrielli type", "orofaciodigital syndrome XI", "orofaciodigital syndrome type XI", "orofaciodigital syndrome, Gabrielli type"], "xref": ["DOID:0060381", "GARD:0004118", "MEDGEN:416694", "MESH:C557821", "OMIM:612913", "Orphanet:141000", "SCTID:718681002", "UMLS:C2752048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013036", "name": "Zechi-ceide syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Zechi-Ceide syndrome", "occipital atretic cephalocele-unusual facies-large feet syndrome"], "xref": ["GARD:0010582", "MEDGEN:416693", "MESH:C567865", "OMIM:612916", "Orphanet:217017", "UMLS:C2752047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013037", "name": "Giacheti syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Giacheti syndrome"], "xref": ["MEDGEN:414543", "MESH:C567864", "OMIM:612917", "UMLS:C2752043"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.", "id": "MONDO:0013038", "name": "Cloves syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLOVE syndrome, somatic", "CLOVES syndrome", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"], "xref": ["DOID:0080351", "GARD:0010939", "MEDGEN:442876", "MESH:C567863", "NCIT:C177122", "NORD:979", "OMIM:612918", "Orphanet:140944", "SCTID:719475006", "UMLS:C2752042"]}
{"category": ["biolink:Disease"], "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.", "id": "MONDO:0013039", "name": "3m syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["3-M syndrome 2", "3-M syndrome caused by mutation in OBSL1", "3M syndrome 2", "OBSL1 3-M syndrome", "three M syndrome 2", "three M syndrome type 2"], "xref": ["GARD:0015591", "MEDGEN:414168", "MESH:C567862", "OMIM:612921", "UMLS:C2752041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013040", "name": "Atypical hemolytic-uremic syndrome with mcp/cd46 anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["D-HUS with MCP/CD46 anomaly", "aHUS with MCP/CD46 anomaly", "atypical HUS with MCP/CD46 anomaly", "hemolytic uremic syndrome, atypical, susceptibility to, type 2", "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly", "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly"], "xref": ["GARD:0018552", "MEDGEN:414167", "NANDO:2200803", "OMIM:612922", "Orphanet:93576", "UMLS:C2752040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013041", "name": "Atypical hemolytic-uremic syndrome with i factor anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["D-HUS with I factor anomaly", "aHUS with I factor anomaly", "atypical HUS with I factor anomaly", "hemolytic uremic syndrome, atypical, susceptibility to, type 3", "hemolytic-uremic syndrome without diarrhea with I factor anomaly", "hemolytic-uremic syndrome without diarrhoea with I factor anomaly"], "xref": ["GARD:0018553", "MEDGEN:414542", "OMIM:612923", "Orphanet:93580", "UMLS:C2752039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013042", "name": "Atypical hemolytic-uremic syndrome with b factor anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["D-HUS with B factor anomaly", "aHUS with B factor anomaly", "atypical HUS with B factor anomaly", "hemolytic uremic syndrome, atypical, susceptibility to, type 4", "hemolytic-uremic syndrome without diarrhea with B factor anomaly", "hemolytic-uremic syndrome without diarrhoea with B factor anomaly"], "xref": ["GARD:0018554", "MEDGEN:416691", "OMIM:612924", "Orphanet:93578", "UMLS:C2752038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013043", "name": "Atypical hemolytic-uremic syndrome with c3 anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["D-HUS with C3 anomaly", "aHUS with C3 anomaly", "atypical HUS with C3 anomaly", "hemolytic uremic syndrome with DGKE deficiency", "hemolytic uremic syndrome, atypical, susceptibility to, type 5", "hemolytic-uremic syndrome without diarrhea with C3 anomaly", "hemolytic-uremic syndrome without diarrhoea with C3 anomaly"], "xref": ["GARD:0018555", "MEDGEN:442875", "OMIM:612925", "Orphanet:93575", "UMLS:C2752037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013044", "name": "Atypical hemolytic-uremic syndrome with thrombomodulin anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["D-HUS with thrombomodulin anomaly", "aHUS with thrombomodulin anomaly", "atypical HUS with thrombomodulin anomaly", "hemolytic uremic syndrome, atypical, susceptibility to, type 6", "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly", "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly"], "xref": ["GARD:0018556", "MEDGEN:414541", "OMIM:612926", "Orphanet:217023", "UMLS:C2752036"]}
{"category": ["biolink:Disease"], "description": "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.", "id": "MONDO:0013046", "name": "Glycogen storage disease due to muscle beta-enolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to muscle beta-enolase deficiency", "GSDXIII", "glycogen storage disease due to muscle beta-enolase deficiency", "glycogen storage disease type 13", "glycogenosis due to muscle beta-enolase deficiency", "glycogenosis type 13", "muscle enolase deficiency", "muscular enolase deficiency"], "xref": ["GARD:0002125", "MEDGEN:442873", "MESH:C567861", "NANDO:1200835", "OMIM:612932", "Orphanet:99849", "UMLS:C2752027", "icd11.foundation:821809975"]}
{"category": ["biolink:Disease"], "description": "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.", "id": "MONDO:0013047", "name": "Glycogen storage disease due to lactate dehydrogenase m-subunit deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to lactate dehydrogenase M-subunit deficiency", "LDH-M subunit deficiency", "LDHA glycogen storage disease", "glycogen storage disease caused by mutation in LDHA", "glycogenosis due to lactate dehydrogenase M-subunit deficiency", "lactate dehydrogenase A deficiency"], "xref": ["GARD:0003160", "HGNC:6535", "ICD9:271.8", "MEDGEN:419152", "MESH:C538133", "NANDO:1200833", "OMIM:612933", "Orphanet:284426", "SCTID:237982007", "UMLS:C2931743"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.", "id": "MONDO:0013048", "name": "Hereditary spastic paraplegia 50", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP4M1 hereditary spastic paraplegia", "SPG50", "Spastic Paraplegia 50", "hereditary spastic paraplegia caused by mutation in AP4M1", "hereditary spastic paraplegia type 50"], "xref": ["DOID:0110802", "GARD:0015592", "MEDGEN:442869", "MESH:C567858", "NORD:1989", "OMIM:612936", "UMLS:C2752008"]}
{"category": ["biolink:Disease"], "description": "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.", "id": "MONDO:0013049", "name": "Dpm3-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Io", "CDG-Io", "CDG1O", "DPM3-CDG", "DPM3-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Io", "congenital disorder of glycosylation type 1o", "congenital disorder of glycosylation type Io", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15"], "xref": ["GARD:0012395", "MEDGEN:414534", "MESH:C567857", "OMIM:612937", "Orphanet:263494", "SCTID:725044000", "UMLS:C2752007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013050", "name": "Lethal polymalformative syndrome, boissel type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["growth retardation, developmental delay, facial dysmorphism"], "xref": ["GARD:0017110", "MEDGEN:414158", "MESH:C567856", "OMIM:612938", "Orphanet:210144", "UMLS:C2752001"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.", "id": "MONDO:0013051", "name": "Autosomal recessive cutis laxa type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCL2, progeroid type", "ARCL2B", "PYCR1 autosomal recessive cutis laxa type 2", "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1", "autosomal recessive cutis laxa type 2, progeroid type", "autosomal recessive cutis laxa type 2B"], "xref": ["DOID:0070137", "GARD:0001641", "MEDGEN:414526", "MESH:C567855", "OMIM:612940", "Orphanet:357064", "UMLS:C2751987"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.", "id": "MONDO:0013052", "name": "Retinitis pigmentosa 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KLHL7 retinitis pigmentosa", "RP42", "retinitis pigmentosa 42", "retinitis pigmentosa caused by mutation in KLHL7", "retinitis pigmentosa type 42"], "xref": ["DOID:0110386", "GARD:0015593", "MEDGEN:442864", "MESH:C567854", "OMIM:612943", "UMLS:C2751986"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.", "id": "MONDO:0013053", "name": "Microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hadziselimovic syndrome", "microcephaly-faciocardioskeletal syndrome"], "xref": ["GARD:0017116", "MEDGEN:414129", "MESH:C567850", "OMIM:612946", "Orphanet:217026", "SCTID:719395001", "UMLS:C2751878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013054", "name": "Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["microcephaly, growth retardation, cataract, hearing loss, and unusual appearance"], "xref": ["MEDGEN:416652", "MESH:C567849", "OMIM:612947", "UMLS:C2751870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013055", "name": "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features", "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features"], "xref": ["MEDGEN:1680314", "MESH:C548086", "OMIM:612948", "UMLS:C5193232"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.", "id": "MONDO:0013056", "name": "Developmental and epileptic encephalopathy, 39", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AGC1 deficiency", "DEE39", "EIEE39", "SLC25A12 early infantile epileptic encephalopathy", "early infantile epileptic encephalopathy caused by mutation in SLC25A12", "epileptic encephalopathy with global cerebral demyelination", "epileptic encephalopathy, early infantile, 39", "mitochondrial aspartate-glutamate carrier 1 deficiency"], "xref": ["DOID:0080349", "GARD:0017532", "MEDGEN:414492", "MESH:C567847", "OMIM:612949", "Orphanet:353217", "SCTID:726702005", "UMLS:C2751855"]}
{"category": ["biolink:Disease"], "description": "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.", "id": "MONDO:0013058", "name": "Cystic leukoencephalopathy without megalencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLWM"], "xref": ["DOID:0081007", "GARD:0013199", "MEDGEN:416646", "MESH:C567845", "OMIM:612951", "Orphanet:85136", "SCTID:720825005", "UMLS:C2751843", "icd11.foundation:1081165012"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.", "id": "MONDO:0013059", "name": "Aicardi-goutieres syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 5", "Aicardi-Goutieres syndrome caused by mutation in SAMHD1", "Aicardi-Goutieres syndrome type 5", "SAMHD1 Aicardi-Goutieres syndrome"], "xref": ["GARD:0010151", "MEDGEN:413116", "MESH:C535608", "NANDO:2200897", "NCIT:C168564", "OMIM:612952", "UMLS:C2749659"]}
{"category": ["biolink:Disease"], "description": "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.", "id": "MONDO:0013060", "name": "Autosomal recessive parkinson disease 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PARK14", "PLA2G6 hereditary late onset Parkinson disease", "PLA2G6-related dystonia-parkinsonism", "autosomal recessive Parkinson disease type 14", "dystonia-parkinsonism, Paisan-Ruiz type", "hereditary late onset Parkinson disease caused by mutation in PLA2G6"], "xref": ["DOID:0060900", "GARD:0012568", "MEDGEN:414488", "MESH:C567844", "OMIM:612953", "Orphanet:199351", "SCTID:720466001", "UMLS:C2751842"]}
{"category": ["biolink:Disease"], "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.", "id": "MONDO:0013061", "name": "Myofibrillar myopathy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BAG3 myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in BAG3", "myofibrillar myopathy 6", "myofibrillar myopathy type 6", "myopathy, myofibrillar, type 6"], "xref": ["DOID:0080097", "GARD:0017096", "MEDGEN:414119", "MESH:C567843", "OMIM:612954", "Orphanet:199340", "UMLS:C2751831"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.", "id": "MONDO:0013062", "name": "Long qt syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LQT12", "SNTA1 long QT syndrome", "long QT syndrome 12", "long QT syndrome caused by mutation in SNTA1", "long QT syndrome type 12"], "xref": ["DOID:0110653", "GARD:0015595", "MEDGEN:442824", "MESH:C567842", "OMIM:612955", "UMLS:C2751830"]}
{"category": ["biolink:Disease"], "description": "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.", "id": "MONDO:0013063", "name": "Ventricular fibrillation, paroxysmal familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["DPP6 ventricular fibrillation (disease)", "ventricular fibrillation (disease) caused by mutation in DPP6", "ventricular fibrillation, paroxysmal familial, 2", "ventricular fibrillation, paroxysmal familial, type 2"], "xref": ["GARD:0015596", "MEDGEN:442823", "MESH:C567841", "OMIM:612956", "UMLS:C2751829"]}
{"category": ["biolink:Disease"], "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.", "id": "MONDO:0013064", "name": "Multiple synostoses syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FGF9 multiple synostoses syndrome", "multiple synostoses syndrome 3", "multiple synostoses syndrome caused by mutation in FGF9", "multiple synostoses syndrome type 3"], "xref": ["DOID:0081319", "GARD:0015597", "MEDGEN:414116", "MESH:C567839", "OMIM:612961", "UMLS:C2751826"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.", "id": "MONDO:0013065", "name": "Premature ovarian failure 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NR5A1 primary ovarian failure", "premature ovarian failure 7", "premature ovarian failure type 7", "primary ovarian failure caused by mutation in NR5A1"], "xref": ["DOID:0080864", "GARD:0024899", "MEDGEN:414115", "MESH:C567838", "OMIM:612964", "UMLS:C2751825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013066", "name": "46,xy sex reversal 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 3", "46,XY sex reversal 3", "46XY sex reversal 3"], "xref": ["DOID:0111772", "GARD:0015598", "MEDGEN:483746", "NANDO:1200405", "OMIM:612965", "UMLS:C3489793"]}
{"category": ["biolink:Disease"], "description": "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.", "id": "MONDO:0013067", "name": "Cataract 34 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CATC3", "CTRCT34", "FOXE3 cataract (disease)", "cataract (disease) caused by mutation in FOXE3"], "xref": ["DOID:0110230", "GARD:0015599", "MEDGEN:442822", "MESH:C567835", "OMIM:612968", "UMLS:C2751822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013068", "name": "Age-related hearing impairment 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ARHI2", "age-related hearing impairment 2"], "xref": ["MEDGEN:416639", "MESH:C567834", "OMIM:612976", "UMLS:C2751814"]}
{"category": ["biolink:Disease"], "description": "An optic atrophy that is caused by a mutation in the TMEM126A gene.", "id": "MONDO:0013069", "name": "Autosomal recessive optic atrophy, opa7 type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TMEM126A-related optic atrophy with or without extraocular features"], "xref": ["DOID:0111437", "GARD:0017143", "MEDGEN:414112", "MESH:C567833", "OMIM:612989", "Orphanet:227976", "UMLS:C2751812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013070", "name": "Spermatogenic failure 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spermatogenic failure 7", "spermatogenic failure type 7"], "xref": ["DOID:0070173", "GARD:0018400", "MEDGEN:414478", "MESH:C567832", "OMIM:612997", "UMLS:C2751811"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.", "id": "MONDO:0013071", "name": "Emery-dreifuss muscular dystrophy 4, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy", "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1"], "xref": ["DOID:0070249", "GARD:0018206", "MEDGEN:414476", "MESH:C567831", "OMIM:612998", "UMLS:C2751807"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.", "id": "MONDO:0013072", "name": "Emery-dreifuss muscular dystrophy 5, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy", "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2"], "xref": ["DOID:0070250", "GARD:0018207", "MEDGEN:414111", "OMIM:612999", "UMLS:C2751805"]}
{"category": ["biolink:Disease"], "description": "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.", "id": "MONDO:0013073", "name": "Palmoplantar keratoderma, nonepidermolytic, focal 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT16 nonepidermolytic palmoplantar keratoderma", "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16", "palmoplantar keratoderma, nonepidermolytic, focal", "palmoplantar keratoderma, nonepidermolytic, focal 1", "palmoplantar keratoderma, nonepidermolytic, focal type 1"], "xref": ["DOID:0111709", "GARD:0018487", "MEDGEN:1644485", "OMIM:613000", "UMLS:C4552049"]}
{"category": ["biolink:Disease"], "description": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.", "id": "MONDO:0013074", "name": "Encephalocraniocutaneous lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ECCL", "Fishman syndrome", "Haberland syndrome", "encephalocraniocutaneous lipomatosis", "encephalocraniocutaneous lipomatosis, somatic mosaic"], "xref": ["GARD:0002108", "ICD9:757.8", "MEDGEN:140807", "MESH:C535736", "NCIT:C4701", "OMIM:613001", "Orphanet:2396", "SCTID:238905009", "UMLS:C0406612", "icd11.foundation:1084215843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013077", "name": "Santos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Santos syndrome"], "xref": ["MEDGEN:414444", "MESH:C567819", "OMIM:613005", "UMLS:C2751698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013079", "name": "Primary biliary cholangitis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070359", "GARD:0015601", "MEDGEN:442791", "MESH:C567817", "OMIM:613007", "UMLS:C2751696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013080", "name": "Primary biliary cholangitis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070360", "GARD:0015602", "MEDGEN:414443", "MESH:C567816", "OMIM:613008", "UMLS:C2751695"]}
{"category": ["biolink:Disease"], "description": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..", "id": "MONDO:0013081", "name": "Lymphoproliferative syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ITK deficiency", "ITK lymphoproliferative syndrome", "LPFS1", "lymphoproliferative syndrome 1", "lymphoproliferative syndrome caused by mutation in ITK", "lymphoproliferative syndrome type 1"], "xref": ["DOID:0060707", "GARD:0017979", "MEDGEN:765548", "MESH:C567815", "NANDO:2200734", "NCIT:C126344", "OMIM:613011", "Orphanet:538963", "UMLS:C3552634"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.", "id": "MONDO:0013082", "name": "Hirschsprung disease-ganglioneuroblastoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "xref": ["GARD:0002695", "MEDGEN:1683967", "MESH:C538119", "Orphanet:2151", "UMLS:C5191058"]}
{"category": ["biolink:Disease"], "description": "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.", "id": "MONDO:0013083", "name": "Neuroblastoma, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["ALK neuroblastoma", "neuroblastoma caused by mutation in ALK", "neuroblastoma, susceptibility to, 3", "neuroblastoma, susceptibility to, type 3"], "xref": ["GARD:0027831", "MEDGEN:414083", "OMIM:613014", "UMLS:C2751681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013084", "name": "Neuroblastoma, susceptibility to, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["NBLST4", "neuroblastoma, susceptibility to, 4"], "xref": ["GARD:0027832", "MEDGEN:414082", "OMIM:613015", "UMLS:C2751680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013085", "name": "Neuroblastoma, susceptibility to, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["NBLST5", "neuroblastoma, susceptibility to, 5"], "xref": ["GARD:0027833", "MEDGEN:442787", "OMIM:613016", "UMLS:C2751679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013086", "name": "Neuroblastoma, susceptibility to, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["NBLST6", "neuroblastoma, susceptibility to, 6"], "xref": ["GARD:0027834", "MEDGEN:414440", "OMIM:613017", "UMLS:C2751678"]}
{"category": ["biolink:Disease"], "description": "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.", "id": "MONDO:0013087", "name": "Bronchiectasis with or without elevated sweat chloride 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCNN1A bronchiectasis", "bronchiectasis caused by mutation in SCNN1A", "bronchiectasis with or without elevated sweat chloride 2", "bronchiectasis with or without elevated sweat chloride type 2"], "xref": ["DOID:0080527", "GARD:0018055", "MEDGEN:414437", "MESH:C567813", "OMIM:613021", "UMLS:C2751666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013088", "name": "Follicular lymphoma, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["FL1", "follicular lymphoma, susceptibility to, 1"], "xref": ["GARD:0027835", "MEDGEN:442784", "OMIM:613024", "UMLS:C2751665"]}
{"category": ["biolink:Disease"], "description": "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.", "id": "MONDO:0013090", "name": "Chromosome 19q13.11 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["19q13.11 microdeletion syndrome", "Del(19)(q13.11)", "monosomy 19q13.11"], "xref": ["DOID:0060408", "GARD:0010592", "MEDGEN:414432", "MESH:C567810", "Orphanet:217346", "SCTID:719599008", "UMLS:C2751651"]}
{"category": ["biolink:Disease"], "description": "A liver PhK deficiency caused by variants in the PHKG2 gene", "id": "MONDO:0013091", "name": "Glycogen storage disease ixc", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GSD type 9C", "GSD type IXc", "GSD9C", "PHKG2 glycogen storage disease", "PHKG2-related glycogen storage disease type IX", "glycogen storage disease IXc", "glycogen storage disease caused by mutation in PHKG2", "glycogen storage disease type IXc"], "xref": ["DOID:0111043", "GARD:0018387", "MEDGEN:442778", "MESH:C567809", "NANDO:1200849", "NANDO:2201166", "OMIM:613027", "UMLS:C2751643"]}
{"category": ["biolink:Disease"], "description": "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.", "id": "MONDO:0013092", "name": "Glioma susceptibility 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["PTEN malignant glioma", "glioma susceptibility 2", "glioma susceptibility type 2", "malignant glioma caused by mutation in PTEN"], "xref": ["GARD:0027836", "MEDGEN:414431", "OMIM:613028", "UMLS:C2751642"]}
{"category": ["biolink:Disease"], "description": "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.", "id": "MONDO:0013093", "name": "Glioma susceptibility 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BRCA2 malignant glioma", "glioblastoma 3", "glioma susceptibility 3", "glioma susceptibility type 3", "malignant glioma caused by mutation in BRCA2"], "xref": ["GARD:0027837", "MEDGEN:442777", "OMIM:613029", "UMLS:C2751641"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013094", "name": "Glioma susceptibility 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM5", "glioma susceptibility 5"], "xref": ["GARD:0027838", "MEDGEN:414430", "OMIM:613030", "UMLS:C2751640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013095", "name": "Glioma susceptibility 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM6", "glioma susceptibility 6"], "xref": ["GARD:0027839", "MEDGEN:414429", "OMIM:613031", "UMLS:C2751639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013096", "name": "Glioma susceptibility 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM7", "glioma susceptibility 7"], "xref": ["GARD:0027840", "MEDGEN:416602", "OMIM:613032", "UMLS:C2751638"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013097", "name": "Glioma susceptibility 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM8", "glioma susceptibility 8"], "xref": ["GARD:0027841", "MEDGEN:416601", "OMIM:613033", "UMLS:C2751637"]}
{"category": ["biolink:Disease"], "description": "A condition in which a person loses the ability to hear due to exposure to high intensity sound.", "id": "MONDO:0013098", "name": "Noise induced hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["noise-induced hearing loss"], "xref": ["EFO:1001254", "ICD9:388.12", "MEDGEN:5455", "MESH:D006317", "NCIT:C34664", "SCTID:73415002", "UMLS:C0018781"]}
{"category": ["biolink:Disease"], "description": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.", "id": "MONDO:0013099", "name": "Combined pituitary hormone deficiencies, genetic form", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial congenital hypopituitarism", "genetic hypopituitarism", "multiple pituitary hormone deficiencies, genetic forms", "pituitary hormone deficiency, combined"], "xref": ["GARD:0010602", "MEDGEN:906592", "OMIMPS:613038", "Orphanet:95494", "SCTID:718182008", "UMLS:C4273747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013100", "name": "Atrial fibrillation, familial, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ATFB8", "atrial fibrillation, familial, 8"], "xref": ["GARD:0015609", "MEDGEN:414420", "MESH:C567802", "OMIM:613055", "UMLS:C2751607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013108", "name": "Leukemia, acute lymphocytic, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["T-cell acute lymphoblastic leukemia, somatic", "leukemia, T-cell acute lymphoblastic, somatic", "leukemia, T-cell acute lymphocytic, somatic", "leukemia, acute lymphoblastic, somatic", "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "leukemia, acute lymphocytic, susceptibility to, 1"], "xref": ["GARD:0027842", "MEDGEN:442767", "OMIM:613065", "UMLS:C2751595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013109", "name": "Leukemia, acute lymphocytic, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["leukemia, acute lymphocytic, susceptibility to, 2"], "xref": ["GARD:0027843", "MEDGEN:442766", "OMIM:613067", "UMLS:C2751593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013110", "name": "Neurodegenerative syndrome due to cerebral folate transport deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodegenerative syndrome due to cerebral folate transport deficiency"], "xref": ["DOID:0050719", "GARD:0010594", "ICD9:266.2", "MEDGEN:442763", "MESH:C567791", "OMIM:613068", "Orphanet:217382", "SCTID:711403001", "UMLS:C2751584", "icd11.foundation:1158040363"]}
{"category": ["biolink:Disease"], "description": "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.", "id": "MONDO:0013111", "name": "Acute infantile liver failure due to synthesis defect of mtdna-encoded proteins", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LFIT", "TRMU infantile liver failure", "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins", "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "infantile liver failure caused by mutation in TRMU", "liver failure, infantile, transient", "liver failure, transient infantile", "transient infantile liver failure"], "xref": ["DOID:0080778", "GARD:0010593", "MEDGEN:480294", "OMIM:613070", "Orphanet:217371", "UMLS:C3278664"]}
{"category": ["biolink:Disease"], "description": "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.", "id": "MONDO:0013112", "name": "Bronchiectasis with or without elevated sweat chloride 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCNN1G bronchiectasis", "bronchiectasis caused by mutation in SCNN1G", "bronchiectasis with or without elevated sweat chloride 3", "bronchiectasis with or without elevated sweat chloride type 3"], "xref": ["DOID:0080528", "GARD:0018056", "MEDGEN:414351", "MESH:C567772", "OMIM:613071", "UMLS:C2751324"]}
{"category": ["biolink:Disease"], "description": "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.", "id": "MONDO:0013113", "name": "Metaphyseal anadysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MMP9 metaphyseal anadysplasia", "metaphyseal anadysplasia 2", "metaphyseal anadysplasia caused by mutation in MMP9", "metaphyseal anadysplasia type 2"], "xref": ["GARD:0015610", "MEDGEN:414350", "MESH:C567771", "OMIM:613073", "UMLS:C2751322"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.", "id": "MONDO:0013114", "name": "Autosomal dominant nonsyndromic hearing loss 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110576", "GARD:0018132", "MEDGEN:854780", "OMIM:613074", "UMLS:C3888123"]}
{"category": ["biolink:Disease"], "description": "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.", "id": "MONDO:0013115", "name": "Rin2 syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MACS syndrome", "RIN2 deficiency", "RIN2 syndrome", "macrocephaly-alopecia-cutis laxa-scoliosis syndrome", "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome"], "xref": ["GARD:0017120", "MEDGEN:416526", "MESH:C567770", "OMIM:613075", "Orphanet:217335", "SCTID:723367005", "UMLS:C2751321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013116", "name": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome", "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "myopathy, mitochondrial progressive, with congenital cataract and developmental delay"], "xref": ["GARD:0010522", "MEDGEN:416525", "MESH:C567769", "OMIM:613076", "Orphanet:330054", "UMLS:C2751320"]}
{"category": ["biolink:Disease"], "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.", "id": "MONDO:0013117", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions", "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5"], "xref": ["DOID:0111518", "GARD:0016501", "MEDGEN:413981", "MESH:C567768", "OMIM:613077", "UMLS:C2751319"]}
{"category": ["biolink:Disease"], "description": "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.", "id": "MONDO:0013118", "name": "Nijmegen breakage syndrome-like disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NBSLD", "NBs-like disorder", "Nijmegen breakage syndrome-like disorder", "RAD50 deficiency", "microcephaly and chromosomal instability without immunodeficiency"], "xref": ["GARD:0017184", "MEDGEN:442700", "MESH:C567767", "NCIT:C153178", "OMIM:613078", "Orphanet:240760", "SCTID:766753005", "UMLS:C2751318", "icd11.foundation:1014526672"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.", "id": "MONDO:0013119", "name": "Autosomal recessive nonsyndromic hearing loss 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 77"], "xref": ["DOID:0110525", "GARD:0022631", "MEDGEN:412541", "MESH:C567543", "OMIM:613079", "UMLS:C2746083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013120", "name": "46,xy sex reversal 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 5", "46,XY sex reversal 5", "46XY sex reversal 5"], "xref": ["DOID:0111776", "GARD:0015611", "MEDGEN:414349", "MESH:C567766", "OMIM:613080", "UMLS:C2751317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013121", "name": "Glaucoma 3, primary congenital, c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC3C", "glaucoma 3, primary congenital, C"], "xref": ["GARD:0018225", "MEDGEN:854718", "OMIM:613085", "UMLS:C3888011"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013122", "name": "Glaucoma 3, primary congenital, d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glaucoma 3, primary congenital, D", "glaucoma 3, primary congenital, type D"], "xref": ["GARD:0018226", "MEDGEN:416524", "MESH:C567765", "OMIM:613086", "UMLS:C2751316"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.", "id": "MONDO:0013123", "name": "Atrial septal defect 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD6", "TLL1 atrial heart septal defect", "atrial heart septal defect caused by mutation in TLL1", "atrial heart septal defect type 6", "atrial septal defect 6", "atrial septal defect type 6"], "xref": ["DOID:0110111", "GARD:0024900", "MEDGEN:414348", "MESH:C567764", "OMIM:613087", "UMLS:C2751315"]}
{"category": ["biolink:Disease"], "description": "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).", "id": "MONDO:0013125", "name": "Clapo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLAPO syndrome, somatic"], "xref": ["GARD:0017044", "MEDGEN:416522", "MESH:C567763", "OMIM:613089", "Orphanet:168984", "SCTID:717765001", "UMLS:C2751313", "icd11.foundation:415642712"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.", "id": "MONDO:0013127", "name": "Asphyxiating thoracic dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATD3", "DYNC2H1-related short rib thoracic dysplasia", "SRPS type 1", "SRPS type 3", "SRPS1", "SRPS2B", "SRPS3", "SRTD3", "Saldino-Noonan syndrome", "Verma-Naumoff syndrome", "asphyxiating thoracic dystrophy 3", "asphyxiating thoracic dystrophy type 3", "polydactyly with neonatal chondrodystrophy type 1", "polydactyly with neonatal chondrodystrophy type III", "polydactyly with neonatal chondrodystrophy, type 3", "short rib polydactyly syndrome Verma Naumoff type", "short rib-polydactyly syndrome Saldino-Noonan type", "short rib-polydactyly syndrome type 1", "short rib-polydactyly syndrome type 3", "short rib-polydactyly syndrome type III", "short rib-polydactyly syndrome, type 2B", "short-rib thoracic dysplasia 3 with or without polydactyly", "type I short rib polydactyly syndrome"], "xref": ["DOID:0050549", "DOID:0110087", "GARD:0015613", "ICD9:759.89", "MEDGEN:19860", "MESH:C537602", "NCIT:C163755", "OMIM:613091", "Orphanet:93270", "Orphanet:93271", "SCTID:254051008", "SCTID:27330009", "UMLS:C0036069"]}
{"category": ["biolink:Disease"], "description": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).", "id": "MONDO:0013128", "name": "Familial juvenile hyperuricemic nephropathy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ADTKD-REN", "FJHN type 2", "REN familial juvenile hyperuricemic nephropathy", "REN-associated FJHN", "REN-associated familial juvenile hyperuricemic nephropathy", "REN-associated kidney disease", "autosomal dominant tubulointerstitial kidney disease due to mutations in REN", "familial juvenile hyperuricemic nephropathy caused by mutation in REN", "familial juvenile hyperuricemic nephropathy type 2", "hyperuricemic nephropathy, familial juvenile, type 2", "tubulointerstitial kidney disease, autosomal dominant, 4"], "xref": ["DOID:0061119", "GARD:0013461", "MEDGEN:414347", "MESH:C567760", "OMIM:613092", "Orphanet:217330", "SCTID:721840000", "UMLS:C2751310"]}
{"category": ["biolink:Disease"], "description": "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.", "id": "MONDO:0013129", "name": "Cone dystrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE6C cone dystrophy", "cone dystrophy 4", "cone dystrophy caused by mutation in PDE6C", "cone dystrophy type 4"], "xref": ["GARD:0016449", "MEDGEN:416518", "MESH:C567758", "NCIT:C164226", "OMIM:613093", "UMLS:C2751308"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.", "id": "MONDO:0013130", "name": "Isolated microphthalmia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF6 isolated microphthalmia", "MCOP4", "isolated microphthalmia caused by mutation in GDF6", "isolated microphthalmia type 4", "microphthalmia, isolated type 4"], "xref": ["DOID:0060836", "GARD:0024901", "MEDGEN:414346", "MESH:C567757", "OMIM:613094", "UMLS:C2751307"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.", "id": "MONDO:0013131", "name": "Polycystic kidney disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["APKD2", "Autosomal dominant polycystic kidney disease type 2", "PKD2", "PKD2 autosomal dominant polycystic kidney disease", "autosomal dominant polycystic kidney disease caused by mutation in PKD2", "polycystic kidney disease 2", "polycystic kidney disease type 2"], "xref": ["DOID:0110859", "GARD:0018599", "MEDGEN:442699", "NCIT:C123166", "OMIM:613095", "SCTID:253879006", "UMLS:C2751306"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.", "id": "MONDO:0013132", "name": "Hereditary spastic paraplegia 36", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG36", "autosomal dominant spastic paraplegia type 36", "hereditary spastic paraplegia type 36"], "xref": ["DOID:0110787", "GARD:0017472", "MEDGEN:422457", "MESH:C567930", "OMIM:613096", "Orphanet:320365", "SCTID:723819007", "UMLS:C2936879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013133", "name": "Melanoma, cutaneous malignant, susceptibility to, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["melanoma, cutaneous malignant, 5", "melanoma, cutaneous malignant, susceptibility to, 5", "melanoma, cutaneous malignant, susceptibility to, type 5"], "xref": ["GARD:0027844", "MEDGEN:416516", "OMIM:613099", "UMLS:C2751295"]}
{"category": ["biolink:Disease"], "description": "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.", "id": "MONDO:0013134", "name": "Glaucoma 1, open angle, o", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NTF4 open-angle glaucoma", "glaucoma 1, open angle, 1O", "glaucoma 1, open angle, O", "glaucoma 1, open angle, type O", "open-angle glaucoma caused by mutation in NTF4"], "xref": ["GARD:0024902", "MEDGEN:416515", "MESH:C567753", "OMIM:613100", "UMLS:C2751294"]}
{"category": ["biolink:Disease"], "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.", "id": "MONDO:0013135", "name": "Familial hemophagocytic lymphohistiocytosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FHL5", "STXBP2 genetic hemophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis type 5", "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2", "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease", "hemophagocytic lymphohistiocytosis, familial, type 5"], "xref": ["DOID:0110925", "GARD:0015614", "MEDGEN:416514", "MESH:C567752", "NANDO:2200731", "OMIM:613101", "UMLS:C2751293"]}
{"category": ["biolink:Disease"], "description": "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.", "id": "MONDO:0013136", "name": "Hereditary hypotrichosis with recurrent skin vesicles", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hypotrichosis with recurrent skin vesicles"], "xref": ["GARD:0017124", "MEDGEN:442697", "MESH:C567751", "OMIM:613102", "Orphanet:217407", "SCTID:724350009", "UMLS:C2751292"]}
{"category": ["biolink:Disease"], "description": "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.", "id": "MONDO:0013137", "name": "Choroidal dystrophy, central areolar 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PRPH2 central areolar choroidal dystrophy", "central areolar choroidal dystrophy caused by mutation in PRPH2", "choroidal dystrophy, central areolar 2", "choroidal dystrophy, central areolar type 2"], "xref": ["GARD:0015615", "MEDGEN:442696", "MESH:C567750", "OMIM:613105", "UMLS:C2751290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013138", "name": "Vertigo, benign recurrent, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRV2", "vertigo, benign recurrent, 2"], "xref": ["GARD:0024903", "MEDGEN:442695", "MESH:C567749", "OMIM:613106", "UMLS:C2751289"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.", "id": "MONDO:0013139", "name": "Neutropenia, severe congenital, 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GFI1 autosomal dominant severe congenital neutropenia", "autosomal dominant severe congenital neutropenia caused by mutation in GFI1", "neutropenia, severe congenital 2, autosomal dominant", "neutropenia, severe congenital, 2, autosomal dominant"], "xref": ["DOID:0112131", "GARD:0015616", "MEDGEN:413975", "MESH:C567748", "OMIM:613107", "UMLS:C2751288"]}
{"category": ["biolink:Disease"], "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.", "id": "MONDO:0013140", "name": "Candidiasis, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLEC7A familial chronic mucocutaneous candidiasis", "candidiasis, familial, 4", "candidiasis, familial, 4, autosomal recessive", "candidiasis, familial, type 4", "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A"], "xref": ["GARD:0015617", "MEDGEN:90958", "OMIM:613108", "SCTID:235073000", "UMLS:C0341024"]}
{"category": ["biolink:Disease"], "description": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.", "id": "MONDO:0013142", "name": "Neuropathy, hereditary sensory and autonomic, type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSAN2B", "RETREG1 hereditary sensory and autonomic neuropathy type 2", "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1", "neuropathy, hereditary sensory and autonomic, type 2B"], "xref": ["DOID:0070150", "GARD:0015618", "MEDGEN:413474", "OMIM:613115", "UMLS:C2751092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013143", "name": "Hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary thrombophilia due to congenital HRG deficiency", "thrombophilia 11 due to HRG deficiency"], "xref": ["DOID:0111903", "GARD:0017125", "MEDGEN:416465", "MESH:C567737", "OMIM:613116", "Orphanet:217467", "UMLS:C2751090", "icd11.foundation:1764310021"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).", "id": "MONDO:0013144", "name": "Hereditary antithrombin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AT3D", "Antithrombin Deficiency", "antithrombin 3 deficiency", "antithrombin III deficiency", "congenital AT-III deficiency", "congenital antithrombin III deficiency", "hereditary antithrombin deficiency", "hereditary thrombophilia due to congenital antithrombin 3 deficiency", "hereditary thrombophilia due to congenital antithrombin deficiency", "inherited antithrombin deficiency", "thrombophilia 7 due to antithrombin III deficiency", "thrombophilia due to antithrombin 3 deficiency", "thrombophilia due to antithrombin III deficiency"], "xref": ["DOID:3755", "GARD:0006148", "ICD9:286.9", "MEDGEN:75781", "MESH:D020152", "NORD:791", "OMIM:613118", "Orphanet:82", "SCTID:36351005", "UMLS:C0272375"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.", "id": "MONDO:0013145", "name": "Brugada syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BRGDA6", "Brugada syndrome 6", "Brugada syndrome caused by mutation in KCNE3", "Brugada syndrome type 6", "KCNE3 Brugada syndrome"], "xref": ["DOID:0110223", "GARD:0015619", "MEDGEN:413473", "MESH:C567735", "OMIM:613119", "UMLS:C2751089"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.", "id": "MONDO:0013146", "name": "Brugada syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA7", "Brugada syndrome 7", "Brugada syndrome caused by mutation in SCN3B", "Brugada syndrome type 7", "SCN3B Brugada syndrome"], "xref": ["DOID:0110224", "GARD:0015620", "MEDGEN:413472", "MESH:C567734", "OMIM:613120", "UMLS:C2751088"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.", "id": "MONDO:0013147", "name": "Dilated cardiomyopathy 1cc", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1CC", "NEXN familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Cc", "dilated cardiomyopathy type 1CC", "familial isolated dilated cardiomyopathy caused by mutation in NEXN"], "xref": ["DOID:0110424", "GARD:0015621", "MEDGEN:413929", "MESH:C567733", "OMIM:613122", "UMLS:C2751084"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.", "id": "MONDO:0013148", "name": "Brugada syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA8", "Brugada syndrome 8", "Brugada syndrome caused by mutation in HCN4", "Brugada syndrome type 8", "HCN4 Brugada syndrome"], "xref": ["DOID:0110225", "GARD:0015622", "MEDGEN:413928", "MESH:C567732", "OMIM:613123", "UMLS:C2751083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013149", "name": "Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hydrops fetalis, nonimmune, with gracile bones and dysmorphic features"], "xref": ["MEDGEN:1677588", "MESH:C567731", "OMIM:613124", "UMLS:C5193233"]}
{"category": ["biolink:Disease"], "description": "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.", "id": "MONDO:0013150", "name": "Parkinsonism-dystonia, infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IPD", "PARKINSONISM-dystonia, infantile", "PKDYS", "parkinsonism-dystonia, infantile"], "xref": ["GARD:0010484", "MEDGEN:413468", "MESH:C567730", "OMIMPS:613135", "Orphanet:238455", "UMLS:C2751067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013151", "name": "Choroidal dystrophy, central areolar, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CACD3", "choroidal dystrophy, central areolar, 3"], "xref": ["GARD:0015623", "MEDGEN:442631", "MESH:C567729", "OMIM:613144", "UMLS:C2751055"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.", "id": "MONDO:0013153", "name": "Inflammatory bowel disease 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IBD28", "IL10RA inflammatory bowel disease", "inflammatory bowel disease 28", "inflammatory bowel disease 28, autosomal recessive", "inflammatory bowel disease 28, early onset, autosomal recessive", "inflammatory bowel disease caused by mutation in IL10RA", "inflammatory bowel disease type 28", "inflammatory bowel disease, early-onset, autosomal recessive"], "xref": ["DOID:0110899", "GARD:0018343", "MEDGEN:442630", "MESH:C567728", "NANDO:2200447", "NCIT:C164676", "OMIM:613148", "UMLS:C2751053"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.", "id": "MONDO:0013154", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDDGA2", "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "muscle-eye-brain-POMT2 related", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"], "xref": ["DOID:0111240", "GARD:0015624", "MEDGEN:461761", "NCIT:C126742", "OMIM:613150", "UMLS:C3150411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013155", "name": "Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type b3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital muscular dystrophy-POMGNT1 related"], "xref": ["DOID:0112378", "GARD:0018455", "MEDGEN:461762", "OMIM:613151", "UMLS:C3150412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013156", "name": "Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type b4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital muscular dystrophy-FKTN related"], "xref": ["DOID:0112379", "GARD:0018456", "MEDGEN:413465", "OMIM:613152", "UMLS:C2751052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013157", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["muscle-eye-brain-FKRP related"], "xref": ["DOID:0111241", "GARD:0015625", "MEDGEN:461763", "OMIM:613153", "UMLS:C3150413"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.", "id": "MONDO:0013158", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6"], "xref": ["DOID:0111242", "GARD:0015626", "MEDGEN:461764", "NCIT:C126743", "OMIM:613154", "UMLS:C3150414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013159", "name": "Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type b1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital muscular dystrophy-POMT1 related"], "xref": ["DOID:0050588", "GARD:0024904", "MEDGEN:1774807", "OMIM:613155", "UMLS:C5436962"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.", "id": "MONDO:0013160", "name": "Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type b2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital muscular dystrophy-POMT2 related", "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2"], "xref": ["DOID:0112380", "GARD:0024905", "MEDGEN:461766", "NCIT:C126690", "OMIM:613156", "UMLS:C3150416"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.", "id": "MONDO:0013161", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2o", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD-POMGNT1 related", "LGMD2O", "MDDGC3", "POMGNT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1"], "xref": ["DOID:0110292", "GARD:0012540", "MEDGEN:461767", "OMIM:613157", "Orphanet:206564", "UMLS:C3150417"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.", "id": "MONDO:0013162", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2n", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD-POMT2 related", "LGMD2N", "MDDGC2", "POMT2 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2"], "xref": ["DOID:0110298", "GARD:0012539", "MEDGEN:461768", "OMIM:613158", "Orphanet:206559", "UMLS:C3150418"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.", "id": "MONDO:0013163", "name": "Nephronophthisis-like nephropathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP-XPNPEP3", "NPHPL1", "XPNPEP3 nephronophthisis (disease)", "nephronophthisis (disease) caused by mutation in XPNPEP3", "nephronophthisis-like nephropathy 1", "nephronophthisis-like nephropathy type 1"], "xref": ["DOID:0111117", "GARD:0018180", "MEDGEN:461769", "OMIM:613159", "UMLS:C3150419"]}
{"category": ["biolink:Disease"], "description": "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).", "id": "MONDO:0013164", "name": "Beta-ureidopropionase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beta-alanine synthase deficiency", "beta-ureidopropionase deficiency"], "xref": ["GARD:0016669", "ICD9:277.6", "MEDGEN:226944", "MESH:C563210", "OMIM:613161", "Orphanet:65287", "SCTID:124511000", "UMLS:C1291512", "icd11.foundation:1227425060"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.", "id": "MONDO:0013165", "name": "Hereditary spastic paraplegia 45", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NT5C2 autosomal recessive complex spastic paraplegia", "SPG45", "SPG65", "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2", "autosomal recessive spastic paraplegia type 45", "autosomal recessive spastic paraplegia type 65", "hereditary spastic paraplegia type 45"], "xref": ["DOID:0110797", "GARD:0017477", "MEDGEN:854816", "OMIM:613162", "Orphanet:320396", "SCTID:765753004", "UMLS:C3888209"]}
{"category": ["biolink:Disease"], "description": "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.", "id": "MONDO:0013166", "name": "Gaba aminotransaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GABA aminotransferase deficiency", "GABA transaminase deficiency", "gamma-aminobutyric acid transaminase deficiency"], "xref": ["DOID:0060174", "GARD:0000194", "HGNC:23", "MEDGEN:137977", "MESH:C535407", "NANDO:2200598", "OMIM:613163", "Orphanet:2066", "SCTID:237941007", "UMLS:C0342708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013167", "name": "Parkinson disease 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PARK16", "Parkinson disease 16"], "xref": ["MEDGEN:442620", "MESH:C567726", "OMIM:613164", "UMLS:C2751012"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.", "id": "MONDO:0013168", "name": "Dilated cardiomyopathy 1dd", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1DD", "RBM20 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Dd", "dilated cardiomyopathy type 1DD", "familial isolated dilated cardiomyopathy caused by mutation in RBM20"], "xref": ["DOID:0110447", "GARD:0015627", "MEDGEN:416441", "MESH:C567725", "OMIM:613172", "UMLS:C2750995"]}
{"category": ["biolink:Disease"], "description": "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).", "id": "MONDO:0013169", "name": "Chromosome 5p13 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["5p13 microduplication syndrome", "chromosome 5p13 duplication syndrome", "chromosome 5p13 duplication syndrome, isolated cases", "dup(5)(p13)", "trisomy 5p13"], "xref": ["DOID:0060460", "GARD:0017505", "MEDGEN:416385", "MESH:C567717", "OMIM:613174", "Orphanet:329802", "UMLS:C2750805"]}
{"category": ["biolink:Disease"], "description": "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13", "id": "MONDO:0013170", "name": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCL1C", "Urban-Rifkin-Davis syndrome", "autosomal recessive cutis laxa type 1C"], "xref": ["DOID:0070139", "GARD:0017140", "MEDGEN:442566", "MESH:C567716", "OMIM:613177", "Orphanet:221145", "PMID:19836010", "UMLS:C2750804", "icd11.foundation:424903269"]}
{"category": ["biolink:Disease"], "description": "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.", "id": "MONDO:0013171", "name": "Purine nucleoside phosphorylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNP deficiency", "PNPase deficiency", "immunodeficiency due to purine nucleoside phosphorylase deficiency", "purine nucleoside phosphorylase deficiency", "purine-nucleoside phosphorylase deficiency"], "xref": ["DOID:5813", "GARD:0004606", "HGNC:7892", "ICD9:277.2", "MEDGEN:75653", "MESH:C562587", "NANDO:1200325", "NANDO:2200698", "NCIT:C176817", "NCIT:C3963", "OMIM:613179", "Orphanet:760", "SCTID:60743005", "UMLS:C0268125"]}
{"category": ["biolink:Disease"], "description": "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.", "id": "MONDO:0013172", "name": "Polymicrogyria with optic nerve hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["polymicrogyria with optic nerve hypoplasia"], "xref": ["GARD:0020687", "MEDGEN:442565", "MESH:C567715", "OMIM:613180", "Orphanet:250972", "UMLS:C2750798"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.", "id": "MONDO:0013173", "name": "Intellectual disability, autosomal recessive 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TRAPPC9 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9", "intellectual disability, autosomal recessive 13", "intellectual disability, autosomal recessive type 13", "mental retardation, autosomal recessive type 13"], "xref": ["DOID:0081098", "GARD:0022548", "MEDGEN:442564", "MESH:C567714", "OMIM:613192", "UMLS:C2750791"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.", "id": "MONDO:0013174", "name": "Primary ciliary dyskinesia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD13", "DNAAF1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 13", "primary ciliary dyskinesia 13", "primary ciliary dyskinesia caused by mutation in DNAAF1", "primary ciliary dyskinesia type 13"], "xref": ["DOID:0110618", "GARD:0015628", "MEDGEN:413399", "MESH:C567713", "OMIM:613193", "UMLS:C2750790"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.", "id": "MONDO:0013175", "name": "Retinitis pigmentosa 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BEST1 retinitis pigmentosa", "RP50", "retinitis pigmentosa 50", "retinitis pigmentosa caused by mutation in BEST1", "retinitis pigmentosa type 50", "retinitis pigmentosa-50"], "xref": ["DOID:0110396", "GARD:0015629", "MEDGEN:442563", "MESH:C567712", "OMIM:613194", "UMLS:C2750789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013176", "name": "Weill-marchesani 4 syndrome, recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["15q26.3 microdeletion syndrome", "WMS4", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome", "ichthyosis-short stature-brachydactyly-microspherophakia syndrome"], "xref": ["DOID:0061276", "GARD:0017579", "MEDGEN:416383", "MESH:C567710", "OMIM:613195", "Orphanet:363992", "UMLS:C2750787"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.", "id": "MONDO:0013177", "name": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ITGA7 congenital muscular dystrophy", "congenital muscular dystrophy caused by mutation in ITGA7", "congenital muscular dystrophy with ITGA7 deficiency", "congenital muscular dystrophy with integrin alpha-7 deficiency"], "xref": ["DOID:0110639", "GARD:0012587", "MEDGEN:413044", "MESH:C567709", "OMIM:613204", "Orphanet:34520", "UMLS:C2750786"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.", "id": "MONDO:0013178", "name": "Congenital muscular dystrophy due to lmna mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["L-CMD", "LMNA congenital muscular dystrophy", "LMNA-related congenital muscular dystrophy", "congenital muscular dystrophy caused by mutation in LMNA", "muscular dystrophy Congenital, LMNA-related", "muscular dystrophy, congenital"], "xref": ["DOID:0110640", "GARD:0012585", "MEDGEN:413043", "MESH:C567708", "NANDO:2200866", "NCIT:C148369", "OMIM:613205", "Orphanet:157973", "UMLS:C2750785"]}
{"category": ["biolink:Disease"], "description": "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.", "id": "MONDO:0013179", "name": "Hereditary spastic paraplegia 44", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GJC2 autosomal recessive complex spastic paraplegia", "SPG44", "autosomal recessive complex spastic paraplegia caused by mutation in GJC2", "hereditary spastic paraplegia type 44"], "xref": ["DOID:0110796", "GARD:0017478", "MEDGEN:413042", "MESH:C567707", "OMIM:613206", "Orphanet:320401", "SCTID:723821002", "UMLS:C2750784"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.", "id": "MONDO:0013181", "name": "Amelogenesis imperfecta hypomaturation type 2a3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI2A3", "WDR72 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in WDR72", "amelogenesis imperfecta hypomaturation type 2A3", "amelogenesis imperfecta, type IIA3"], "xref": ["DOID:0110061", "GARD:0015630", "MEDGEN:416381", "MESH:C567706", "OMIM:613211", "UMLS:C2750771"]}
{"category": ["biolink:Disease"], "description": "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.", "id": "MONDO:0013182", "name": "Chromosome 17p13.3 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["17p13.3 duplication syndrome", "17p13.3 microduplication syndrome", "dup(17)(p13.3)", "trisomy 17p13.3"], "xref": ["DOID:0060432", "GARD:0017122", "MEDGEN:814630", "MESH:C567705", "OMIM:613215", "Orphanet:217385", "SCTID:719582007", "UMLS:C3808300"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.", "id": "MONDO:0013183", "name": "Congenital stationary night blindness 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1C", "TRPM1 congenital stationary night blindness", "congenital stationary night blindness 1C", "congenital stationary night blindness caused by mutation in TRPM1", "congenital stationary night blindness type 1C", "night blindness, congenital stationary (complete), 1C, autosomal recessive"], "xref": ["DOID:0110867", "GARD:0015631", "MEDGEN:416373", "MESH:C567704", "OMIM:613216", "UMLS:C2750747"]}
{"category": ["biolink:Disease"], "description": "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.", "id": "MONDO:0013184", "name": "Congenital diarrhea 5 with tufting enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIAR5", "EPCAM secretory diarrhea", "EPCAM secretory diarrhoea", "IED", "congenital diarrhea 5 with tufting enteropathy", "congenital tufting enteropathy", "intestinal epithelial dysplasia", "secretory diarrhea caused by mutation in EPCAM", "secretory diarrhoea caused by mutation in EPCAM", "tufting enteropathy"], "xref": ["DOID:0060776", "GARD:0010630", "MEDGEN:413031", "MESH:C567703", "OMIM:613217", "Orphanet:92050", "SCTID:715669000", "UMLS:C2750737", "icd11.foundation:1536004957"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.", "id": "MONDO:0013186", "name": "Noonan syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NRAS Noonan syndrome", "NS6", "Noonan syndrome 6", "Noonan syndrome caused by mutation in NRAS", "Noonan syndrome type 6"], "xref": ["DOID:0060584", "GARD:0010701", "MEDGEN:413028", "MESH:C548084", "NCIT:C176934", "OMIM:613224", "UMLS:C2750732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013187", "name": "Factor xiii, a subunit, deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["factor XIII, A subunit, deficiency of", "factor XIIIA deficiency", "hereditary factor XIII A subunit deficiency", "hereditary factor XIII alpha subunit deficiency", "hereditary factor XIII type II deficiency"], "xref": ["GARD:0015633", "MEDGEN:442497", "MESH:C567691", "OMIM:613225", "SCTID:439455002", "UMLS:C2750514"]}
{"category": ["biolink:Disease"], "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.", "id": "MONDO:0013188", "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CA8 dysequilibrium syndrome", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3", "dysequilibrium syndrome caused by mutation in CA8"], "xref": ["DOID:0070558", "GARD:0015634", "MEDGEN:442496", "MESH:C567690", "OMIM:613227", "UMLS:C2750509"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.", "id": "MONDO:0013189", "name": "Trichotillomania", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trichotillomania", "trichotillomania, multifactorial"], "xref": ["DOID:0050587", "ICD10CM:F63.3", "ICD9:312.39", "MEDGEN:21654", "MESH:D014256", "NCIT:C94336", "OMIM:613229", "SCTID:17155009", "UMLS:C0040953", "icd11.foundation:1253999657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013190", "name": "Factor xiii, b subunit, deficiency of", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["factor XIII, b subunit, deficiency of", "factor XIIIB deficiency"], "xref": ["GARD:0015635", "MEDGEN:442490", "MESH:C567688", "OMIM:613235", "UMLS:C2750481"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.", "id": "MONDO:0013191", "name": "Focal segmental glomerulosclerosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSGS5", "INF2 focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis 5", "focal segmental glomerulosclerosis caused by mutation in INF2", "focal segmental glomerulosclerosis type 5"], "xref": ["DOID:0111130", "GARD:0015636", "MEDGEN:413315", "MESH:C567687", "OMIM:613237", "UMLS:C2750475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013194", "name": "Pseudopili annulati", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pseudopili annulati"], "xref": ["MEDGEN:461813", "OMIM:613241", "UMLS:C3150463"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.", "id": "MONDO:0013195", "name": "Hypertrophic cardiomyopathy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH13", "TNNC1 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 13", "cardiomyopathy, hypertrophic, 13", "hypertrophic cardiomyopathy caused by mutation in TNNC1", "hypertrophic cardiomyopathy type 13"], "xref": ["DOID:0110319", "GARD:0024906", "MEDGEN:442487", "MESH:C567686", "OMIM:613243", "UMLS:C2750472"]}
{"category": ["biolink:Disease"], "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a  heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.", "id": "MONDO:0013196", "name": "Lynch syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["EPCAM hereditary nonpolyposis colon cancer", "colorectal cancer, hereditary nonpolyposis, type 8", "hereditary nonpolyposis colon cancer caused by mutation in EPCAM"], "xref": ["DOID:0070270", "GARD:0015638", "MEDGEN:412966", "MESH:C567685", "OMIM:613244", "UMLS:C2750471"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.", "id": "MONDO:0013197", "name": "Hypertrophic cardiomyopathy 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH14", "MYH6 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 14", "cardiomyopathy, hypertrophic, 14", "hypertrophic cardiomyopathy caused by mutation in MYH6", "hypertrophic cardiomyopathy type 14"], "xref": ["DOID:0110320", "GARD:0024907", "MEDGEN:442484", "MESH:C567684", "OMIM:613251", "UMLS:C2750467"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.", "id": "MONDO:0013198", "name": "Dilated cardiomyopathy 1ee", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1EE", "MYH6 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Ee", "dilated cardiomyopathy type 1EE", "familial isolated dilated cardiomyopathy caused by mutation in MYH6"], "xref": ["DOID:0110453", "GARD:0015639", "MEDGEN:412965", "MESH:C567683", "OMIM:613252", "UMLS:C2750466"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.", "id": "MONDO:0013199", "name": "Tuberous sclerosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["TSC2-related tuberous sclerosis", "tuberous sclerosis 2", "tuberous sclerosis type 2", "tuberous sclerosis-2"], "xref": ["DOID:0080325", "GARD:0015640", "MEDGEN:348170", "MESH:C566021", "NCIT:C75331", "OMIM:613254", "UMLS:C1860707"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.", "id": "MONDO:0013200", "name": "Hypertrophic cardiomyopathy 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH15", "VCL hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 15", "cardiomyopathy, hypertrophic, 15", "hypertrophic cardiomyopathy caused by mutation in VCL", "hypertrophic cardiomyopathy type 15"], "xref": ["DOID:0110321", "GARD:0024908", "MEDGEN:413312", "MESH:C567681", "OMIM:613255", "UMLS:C2750459"]}
{"category": ["biolink:Disease"], "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.", "id": "MONDO:0013201", "name": "Waardenburg syndrome type 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EDN3 Waardenburg syndrome", "WS4B", "Waardenburg syndrome caused by mutation in EDN3", "Waardenburg syndrome type 4B"], "xref": ["DOID:0110954", "GARD:0015641", "MEDGEN:412961", "MESH:C567680", "OMIM:613265", "UMLS:C2750457"]}
{"category": ["biolink:Disease"], "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.", "id": "MONDO:0013202", "name": "Waardenburg syndrome type 4c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["WS4C", "Waardenburg syndrome type 4C"], "xref": ["DOID:0110955", "GARD:0015642", "MEDGEN:413310", "MESH:C567679", "OMIM:613266", "UMLS:C2750452"]}
{"category": ["biolink:Disease"], "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.", "id": "MONDO:0013203", "name": "Corneal dystrophy, fuchs endothelial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fuchs' endothelial dystrophy caused by mutation in TCF4", "TCF4 Fuchs' endothelial dystrophy", "corneal dystrophy, Fuchs endothelial, 3", "corneal dystrophy, Fuchs endothelial, type 3"], "xref": ["GARD:0018218", "MEDGEN:442479", "MESH:C567678", "OMIM:613267", "UMLS:C2750451"]}
{"category": ["biolink:Disease"], "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.", "id": "MONDO:0013204", "name": "Corneal dystrophy, fuchs endothelial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fuchs' endothelial dystrophy caused by mutation in SLC4A11", "SLC4A11 Fuchs' endothelial dystrophy", "corneal dystrophy, Fuchs endothelial, 4", "corneal dystrophy, Fuchs endothelial, type 4"], "xref": ["GARD:0018219", "MEDGEN:413309", "MESH:C567677", "OMIM:613268", "UMLS:C2750450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013205", "name": "Corneal dystrophy, fuchs endothelial, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FECD5"], "xref": ["GARD:0018220", "MEDGEN:413308", "MESH:C567676", "OMIM:613269", "UMLS:C2750449"]}
{"category": ["biolink:Disease"], "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.", "id": "MONDO:0013206", "name": "Corneal dystrophy, fuchs endothelial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fuchs' endothelial dystrophy caused by mutation in ZEB1", "ZEB1 Fuchs' endothelial dystrophy", "corneal dystrophy, Fuchs endothelial, 6", "corneal dystrophy, Fuchs endothelial, type 6"], "xref": ["GARD:0018221", "MEDGEN:442478", "MESH:C567675", "OMIM:613270", "UMLS:C2750448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013207", "name": "Corneal dystrophy, fuchs endothelial, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FECD7"], "xref": ["GARD:0018222", "MEDGEN:413849", "MESH:C567674", "OMIM:613271", "UMLS:C2750447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013208", "name": "Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"], "xref": ["DOID:0080536", "GARD:0010706", "ICD9:277.89", "MEDGEN:412958", "MESH:C548016", "OMIM:613280", "Orphanet:309854", "SCTID:702377007", "UMLS:C2750442"]}
{"category": ["biolink:Disease"], "description": "Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.", "id": "MONDO:0013209", "name": "Metabolic dysfunction-associated steatotic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:predisposition"], "synonym": ["MASLD", "NAFLD", "NAFLD - nonalcoholic fatty liver disease", "fatty liver disease, nonalcoholic", "non-alcoholic fatty liver", "non-alcoholic fatty liver disease", "nonalcoholic fatty liver disease"], "xref": ["DOID:0080208", "DOID:0080546", "EFO:0003095", "ICD9:571.8", "MEDGEN:96033", "MESH:D065626", "MedDRA:10029530", "NCIT:C84444", "Orphanet:33271", "SCTID:197315008", "UMLS:C0400966", "icd11.foundation:1912806631"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.", "id": "MONDO:0013210", "name": "Autosomal recessive nonsyndromic hearing loss 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 25"], "xref": ["DOID:0110483", "GARD:0022632", "MEDGEN:237587", "OMIM:613285", "UMLS:C1414017"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.", "id": "MONDO:0013211", "name": "Dilated cardiomyopathy 1ff", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1FF", "cardiomyopathy, dilated, type 1Ff", "dilated cardiomyopathy type 1FF"], "xref": ["DOID:0110459", "GARD:0015643", "MEDGEN:412876", "MESH:C567654", "OMIM:613286", "UMLS:C2750091"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.", "id": "MONDO:0013212", "name": "Charcot-marie-tooth disease axonal type 2n", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AARS Charcot-Marie-Tooth disease type 2", "CMT2N", "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS", "autosomal dominant Charcot-Marie-Tooth disease type 2N"], "xref": ["DOID:0110177", "GARD:0012429", "MEDGEN:413754", "MESH:C567653", "OMIM:613287", "Orphanet:228174", "SCTID:719515001", "UMLS:C2750090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013214", "name": "Bile acid malabsorption, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bile acid malabsorption, primary, 1", "bile acid malabsorption, primary"], "xref": ["MEDGEN:1794144", "MESH:C567652", "OMIM:613291", "Orphanet:449262", "UMLS:C5561934"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.", "id": "MONDO:0013215", "name": "Autosomal recessive nonsyndromic hearing loss 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 79"], "xref": ["DOID:0110526", "GARD:0022633", "MEDGEN:413222", "MESH:C567651", "OMIM:613307", "UMLS:C2750082"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.", "id": "MONDO:0013216", "name": "Diamond-blackfan anemia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 9", "Diamond-Blackfan Anemia type 9", "Diamond-Blackfan anaemia caused by mutation in RPS10", "Diamond-Blackfan anemia 9", "Diamond-Blackfan anemia caused by mutation in RPS10", "RPS10 Diamond-Blackfan anaemia", "RPS10 Diamond-Blackfan anemia"], "xref": ["DOID:0111884", "GARD:0015644", "MEDGEN:412874", "MESH:C567650", "NCIT:C176918", "OMIM:613308", "UMLS:C2750081"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.", "id": "MONDO:0013217", "name": "Diamond-blackfan anemia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 10", "Diamond-Blackfan Anemia type 10", "Diamond-Blackfan anaemia caused by mutation in RPS26", "Diamond-Blackfan anemia 10", "Diamond-Blackfan anemia caused by mutation in RPS26", "RPS26 Diamond-Blackfan anaemia", "RPS26 Diamond-Blackfan anemia"], "xref": ["DOID:0111888", "GARD:0015645", "MEDGEN:412873", "MESH:C567649", "NCIT:C176919", "OMIM:613309", "UMLS:C2750080"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.", "id": "MONDO:0013218", "name": "Exudative vitreoretinopathy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TSPAN12 exudative vitreoretinopathy", "exudative vitreoretinopathy 5", "exudative vitreoretinopathy caused by mutation in TSPAN12", "exudative vitreoretinopathy type 5"], "xref": ["DOID:0111408", "GARD:0015646", "MEDGEN:412872", "MESH:C567648", "OMIM:613310", "UMLS:C2750079"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.", "id": "MONDO:0013219", "name": "Hypophosphatemic rickets, autosomal recessive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Autosomal Recessive Hypophosphatemic Rickets Type 2", "ENPP1 autosomal recessive hypophosphatemic rickets", "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1", "hypophosphatemic rickets, autosomal recessive, 2", "hypophosphatemic rickets, autosomal recessive, type 2"], "xref": ["GARD:0018417", "MEDGEN:442380", "MESH:C567647", "NORD:2000", "OMIM:613312", "UMLS:C2750078"]}
{"category": ["biolink:Disease"], "description": "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.", "id": "MONDO:0013220", "name": "Hemochromatosis type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HAMP hemochromatosis type 2", "HFE2B", "hemochromatosis type 2 caused by mutation in HAMP"], "xref": ["DOID:0111032", "GARD:0015647", "MEDGEN:356040", "MESH:C566557", "OMIM:613313", "UMLS:C1865616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013221", "name": "Miyoshi muscular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMD2", "Miyoshi muscular dystrophy 2"], "xref": ["DOID:0070200", "GARD:0015648", "MEDGEN:413751", "MESH:C567646", "OMIM:613318", "UMLS:C2750077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013222", "name": "Miyoshi muscular dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMD3", "Miyoshi muscular dystrophy 3", "Miyoshi muscular dystrophy type 3", "distal anoctaminopathy"], "xref": ["DOID:0070201", "GARD:0017653", "MEDGEN:413750", "MESH:C567645", "OMIM:613319", "Orphanet:399096", "UMLS:C2750076"]}
{"category": ["biolink:Disease"], "description": "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.", "id": "MONDO:0013223", "name": "Autosomal recessive spondylometaphyseal dysplasia, megarbane type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAM16 spondylodysplastic dysplasia", "spondylodysplastic dysplasia caused by mutation in PAM16", "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"], "xref": ["DOID:0112304", "GARD:0017667", "MEDGEN:413221", "MESH:C567644", "OMIM:613320", "Orphanet:401979", "UMLS:C2750075"]}
{"category": ["biolink:Disease"], "description": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.", "id": "MONDO:0013224", "name": "Rhabdoid tumor predisposition syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["SMARCA4 familial rhabdoid tumor", "SMARCA4 familial rhabdoid tumour", "familial rhabdoid tumor caused by mutation in SMARCA4", "familial rhabdoid tumour caused by mutation in SMARCA4", "rhabdoid tumor predisposition syndrome 2", "rhabdoid tumor predisposition syndrome type 2", "rhabdoid tumour predisposition syndrome type 2"], "xref": ["DOID:0060997", "GARD:0018319", "MEDGEN:413749", "MESH:C567643", "NCIT:C178394", "OMIM:613325", "UMLS:C2750074"]}
{"category": ["biolink:Disease"], "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.", "id": "MONDO:0013225", "name": "Congenital generalized lipodystrophy type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BSCL4", "CAVIN1 congenital generalised lipodystrophy (disease)", "CAVIN1 congenital generalized lipodystrophy (disease)", "CGL4", "GCL4", "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1", "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1"], "xref": ["DOID:0111138", "GARD:0010937", "MEDGEN:412871", "MESH:C567642", "OMIM:613327", "Orphanet:228429", "UMLS:C2750069"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).", "id": "MONDO:0013226", "name": "Combined immunodeficiency with faciooculoskeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Roifman-Chitayat syndrome", "Roifman-Chitayat syndrome, digenic"], "xref": ["GARD:0017139", "MEDGEN:442377", "MESH:C567641", "OMIM:613328", "Orphanet:221139", "UMLS:C2750068"]}
{"category": ["biolink:Disease"], "description": "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.", "id": "MONDO:0013227", "name": "Congenital plasminogen activator inhibitor type 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital PAI-1 deficiency", "congenital plasminogen activator inhibitor type 1 deficiency"], "xref": ["GARD:0004381", "MEDGEN:412870", "MESH:C567640", "NANDO:2200688", "NCIT:C133884", "OMIM:613329", "Orphanet:465", "SCTID:717407006", "UMLS:C2750067", "icd11.foundation:428643962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013228", "name": "Spondylo-megaepiphyseal-metaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondylo-megaepiphyseal-metaphyseal dysplasia"], "xref": ["GARD:0017154", "MEDGEN:412869", "MESH:C567639", "OMIM:613330", "Orphanet:228387", "UMLS:C2750066"]}
{"category": ["biolink:Disease"], "description": "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.", "id": "MONDO:0013229", "name": "Hot water reflex epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["epilepsy, hot water", "hot water epilepsy"], "xref": ["DOID:0081104", "GARD:0017028", "ICD9:345.10", "MEDGEN:1631373", "OMIMPS:613339", "Orphanet:166412", "SCTID:230454005", "UMLS:C4706506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013230", "name": "Epilepsy, hot water, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epilepsy, hot water, 2"], "xref": ["DOID:0081107", "GARD:0018287", "MEDGEN:461886", "OMIM:613340", "UMLS:C3150536"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.", "id": "MONDO:0013231", "name": "Leber congenital amaurosis 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA14", "LRAT Leber congenital amaurosis", "Leber congenital amaurosis 14", "Leber congenital amaurosis caused by mutation in LRAT", "Leber congenital amaurosis type 14", "retinal dystrophy, early-onset severe"], "xref": ["DOID:0110188", "GARD:0010883", "MEDGEN:442375", "MESH:C567636", "OMIM:613341", "UMLS:C2750063"]}
{"category": ["biolink:Disease"], "description": "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.", "id": "MONDO:0013232", "name": "Brachydactylous dwarfism, mseleni type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mseleni joint disease"], "xref": ["GARD:0000960", "MEDGEN:419408", "MESH:C537086", "OMIM:613342", "Orphanet:2619", "SCTID:715470008", "UMLS:C2931420", "icd11.foundation:419953164"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.", "id": "MONDO:0013233", "name": "Spondyloepimetaphyseal dysplasia, handigodu type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spondyloepimetaphyseal dysplasia, Handigodu type"], "xref": ["GARD:0010741", "MEDGEN:461895", "OMIM:613343", "Orphanet:99642", "UMLS:C3150545", "icd11.foundation:2048058677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013234", "name": "Hypokalemic periodic paralysis, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypokalemic periodic paralysis, type 2"], "xref": ["GARD:0015649", "MEDGEN:413748", "MESH:C567635", "OMIM:613345", "UMLS:C2750061"]}
{"category": ["biolink:Disease"], "description": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.", "id": "MONDO:0013235", "name": "Pancreatic cancer, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BRCA2 familial pancreatic carcinoma", "familial pancreatic carcinoma caused by mutation in BRCA2", "pancreatic cancer 2", "pancreatic cancer, susceptibility to, 2", "pancreatic cancer, susceptibility to, type 2"], "xref": ["GARD:0027845", "MEDGEN:461896", "OMIM:613347", "UMLS:C3150546"]}
{"category": ["biolink:Disease"], "description": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.", "id": "MONDO:0013236", "name": "Pancreatic cancer, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["PALB2 familial pancreatic carcinoma", "familial pancreatic carcinoma caused by mutation in PALB2", "pancreatic cancer, susceptibility to, 3", "pancreatic cancer, susceptibility to, type 3"], "xref": ["GARD:0027846", "MEDGEN:461897", "OMIM:613348", "UMLS:C3150547"]}
{"category": ["biolink:Disease"], "description": "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.", "id": "MONDO:0013238", "name": "Chromosome 17q23.1-q23.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17q23.1q23.2 microdeletion syndrome", "Del(17)(q23.1q23.2)", "chromosome 17q23.1-q23.2 deletion syndrome", "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases", "monosomy 17q23.1-q23.2", "monosomy 17q23.1q23.2"], "xref": ["DOID:0060405", "GARD:0010936", "MEDGEN:461957", "OMIM:613355", "Orphanet:261279", "SCTID:719584008", "UMLS:C3150607"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.", "id": "MONDO:0013239", "name": "Hereditary spastic paraplegia 41", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG41", "autosomal dominant spastic paraplegia type 41", "hereditary spastic paraplegia type 41"], "xref": ["DOID:0110793", "GARD:0017471", "MEDGEN:854815", "OMIM:613364", "Orphanet:320355", "SCTID:763069002", "UMLS:C3888208"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.", "id": "MONDO:0013240", "name": "Maturity-onset diabetes of the young type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["INS maturity-onset diabetes of the young (disease)", "MODY10", "maturity-onset diabetes of the young (disease) caused by mutation in INS"], "xref": ["DOID:0111108", "GARD:0015652", "MEDGEN:461967", "OMIM:613370", "SCTID:609577006", "UMLS:C3150617"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.", "id": "MONDO:0013241", "name": "Spinocerebellar ataxia type 30", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA30", "spinocerebellar ataxia type 30"], "xref": ["DOID:0050979", "GARD:0004950", "MEDGEN:424821", "MESH:C575214", "OMIM:613371", "Orphanet:211017", "SCTID:719253007", "UMLS:C2936793", "icd11.foundation:716324960"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.", "id": "MONDO:0013242", "name": "Maturity-onset diabetes of the young type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BLK maturity-onset diabetes of the young (disease)", "MODY11", "maturity-onset diabetes of the young (disease) caused by mutation in BLK"], "xref": ["DOID:0111109", "GARD:0015653", "MEDGEN:461968", "OMIM:613375", "SCTID:609578001", "UMLS:C3150618"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.", "id": "MONDO:0013243", "name": "Neuronopathy, distal hereditary motor, type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSPB3 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in HSPB3"], "xref": ["DOID:0111209", "GARD:0018264", "MEDGEN:461969", "OMIM:613376", "UMLS:C3150619"]}
{"category": ["biolink:Disease"], "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.", "id": "MONDO:0013244", "name": "Brachydactyly type e2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDE2", "PTHLH brachydactyly type E", "brachydactyly type E caused by mutation in PTHLH", "brachydactyly type E2"], "xref": ["DOID:0110976", "GARD:0015654", "MEDGEN:461994", "OMIM:613382", "UMLS:C3150644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013245", "name": "Syndromic multisystem autoimmune disease due to itch deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["syndromic multisystem autoimmune disease due to ITCH deficiency"], "xref": ["GARD:0010775", "MEDGEN:461999", "NANDO:2200739", "OMIM:613385", "Orphanet:228426", "UMLS:C3150649", "icd11.foundation:1970749000"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", "id": "MONDO:0013247", "name": "Fanconi renotubular syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fanconi renotubular syndrome 2", "Fanconi renotubular syndrome type 2", "Fanconi syndrome caused by mutation in SLC34A1", "SLC34A1 Fanconi syndrome"], "xref": ["DOID:0080758", "GARD:0015655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", "id": "MONDO:0013248", "name": "Fanconi anemia complementation group o", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCO", "Fanconi Anemia, complementation group type O", "Fanconi anaemia caused by mutation in RAD51C", "Fanconi anaemia caused by mutation in Rad51C", "Fanconi anaemia complementation group type O", "Fanconi anemia caused by mutation in RAD51C", "Fanconi anemia caused by mutation in Rad51C", "Fanconi anemia complementation group type O", "RAD51C Fanconi anaemia", "RAD51C Fanconi anemia", "Rad51C Fanconi anaemia", "Rad51C Fanconi anemia"], "xref": ["DOID:0111096", "GARD:0015656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.", "id": "MONDO:0013249", "name": "Autosomal recessive nonsyndromic hearing loss 84a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 84A"], "xref": ["DOID:0110529", "GARD:0022634", "MEDGEN:462004", "OMIM:613391", "UMLS:C3150654"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.", "id": "MONDO:0013250", "name": "Autosomal recessive nonsyndromic hearing loss 85", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110531", "GARD:0022635", "MEDGEN:463629", "OMIM:613392", "UMLS:C3160740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013251", "name": "Birbeck granule deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Birbeck granule deficiency"], "xref": ["MEDGEN:462007", "OMIM:613393", "UMLS:C3150657"]}
{"category": ["biolink:Disease"], "description": "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.", "id": "MONDO:0013252", "name": "Warsaw breakage syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WABS", "Warsaw breakage syndrome"], "xref": ["DOID:0060535", "GARD:0013708", "ICD9:759.89", "MEDGEN:462008", "NCIT:C164675", "OMIM:613398", "Orphanet:280558", "SCTID:702829000", "UMLS:C3150658", "icd11.foundation:833375162"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.", "id": "MONDO:0013254", "name": "Microcephaly, seizures, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly, seizures, and developmental delay"], "xref": ["DOID:0080457", "GARD:0010933", "MEDGEN:462017", "OMIM:613402", "Orphanet:228418", "UMLS:C3150667"]}
{"category": ["biolink:Disease"], "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.", "id": "MONDO:0013255", "name": "Arthrogryposis, renal dysfunction, and cholestasis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome", "arthrogryposis, renal dysfunction, and cholestasis 2", "arthrogryposis, renal dysfunction, and cholestasis type 2", "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39"], "xref": ["DOID:0111354", "GARD:0015658", "MEDGEN:462022", "OMIM:613404", "UMLS:C3150672"]}
{"category": ["biolink:Disease"], "description": "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.", "id": "MONDO:0013256", "name": "Chromosome 15q24 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["15q24 microdeletion syndrome", "15q24 recurrent microdeletion syndrome", "Del(15)(q24)", "chromosome 15q24 deletion syndrome", "monosomy 15q24"], "xref": ["DECIPHER:66", "DOID:0060395", "GARD:0012219", "MEDGEN:462024", "MESH:C579849", "OMIM:613406", "Orphanet:94065", "SCTID:699308002", "UMLS:C3150674"]}
{"category": ["biolink:Disease"], "description": "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.", "id": "MONDO:0013259", "name": "Oguchi disease-2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSNBO2", "GRK1 Oguchi disease", "Oguchi disease caused by mutation in GRK1", "Oguchi disease type 2"], "xref": ["DOID:0110713", "GARD:0015660", "MEDGEN:462028", "OMIM:613411", "UMLS:C3150678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013260", "name": "Esophagitis, eosinophilic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EOE2", "esophagitis, eosinophilic, 2"], "xref": ["GARD:0024909", "MEDGEN:462029", "OMIM:613412", "UMLS:C3150679"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.", "id": "MONDO:0013261", "name": "Dilated cardiomyopathy 1r", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTC1 familial isolated dilated cardiomyopathy", "CMD1R", "cardiomyopathy, dilated, type 1R", "dilated cardiomyopathy type 1R", "familial isolated dilated cardiomyopathy caused by mutation in ACTC1"], "xref": ["DOID:0110456", "GARD:0015661", "MEDGEN:462031", "OMIM:613424", "UMLS:C3150681"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.", "id": "MONDO:0013262", "name": "Dilated cardiomyopathy 1s", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1S", "MYH7 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1S", "dilated cardiomyopathy type 1S", "familial isolated dilated cardiomyopathy caused by mutation in MYH7"], "xref": ["DOID:0110454", "GARD:0012832", "MEDGEN:371831", "MESH:C563538", "OMIM:613426", "UMLS:C1834481"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.", "id": "MONDO:0013263", "name": "Retinitis pigmentosa 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCARE retinitis pigmentosa", "RP54", "retinitis pigmentosa 54", "retinitis pigmentosa caused by mutation in PCARE", "retinitis pigmentosa type 54"], "xref": ["DOID:0110364", "GARD:0015662", "MEDGEN:462041", "OMIM:613428", "UMLS:C3150691"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.", "id": "MONDO:0013264", "name": "Amyotrophic lateral sclerosis type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS12", "OPTN amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 12", "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia", "amyotrophic lateral sclerosis caused by mutation in OPTN", "amyotrophic lateral sclerosis type 12"], "xref": ["DOID:0060203", "GARD:0015663", "MEDGEN:462042", "OMIM:613435", "UMLS:C3150692"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.", "id": "MONDO:0013266", "name": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MEF2C Deficiency", "MEF2C autosomal dominant non-syndromic intellectual disability", "MEF2C haploinsufficiency syndrome (MCHS)", "MEF2C-related neurodevelopmental disorder", "MEF2C-related syndrome", "MRD20", "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C", "intellectual disability, autosomal dominant 20", "intellectual disability, autosomal dominant type 20", "mental retardation, autosomal dominant 20", "mental retardation, autosomal dominant type 20", "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"], "xref": ["DOID:0070050", "GARD:0024910", "MEDGEN:462050", "NORD:2013", "OMIM:613443", "Orphanet:664410", "UMLS:C3150700"]}
{"category": ["biolink:Disease"], "description": "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.", "id": "MONDO:0013267", "name": "Distal 16p11.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["body mass index QTL16", "chromosome 16p11.2 deletion syndrome, type 220kb", "distal 16p11.2 microdeletion syndrome", "distal del(16)(p11.2)", "distal monosomy 16p11.2"], "xref": ["DOID:0060398", "GARD:0017244", "MEDGEN:462051", "OMIM:613444", "Orphanet:261222", "SCTID:733521003", "UMLS:C3150701"]}
{"category": ["biolink:Disease"], "description": "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.", "id": "MONDO:0013268", "name": "Frontonasal dysplasia with alopecia and genital anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALX4-related FNDAG", "craniofrontonasal dysplasia with alopecia and hypogonadism", "frontonasal dysplasia type 2", "frontonasal dysplasia with alopecia and genital abnomality"], "xref": ["DOID:0081046", "GARD:0012641", "MEDGEN:462053", "OMIM:613451", "Orphanet:228390", "SCTID:725029001", "UMLS:C3150703"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.", "id": "MONDO:0013269", "name": "Autosomal recessive nonsyndromic hearing loss 91", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 91"], "xref": ["DOID:0110536", "GARD:0022636", "MEDGEN:462054", "OMIM:613453", "UMLS:C3150704"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013271", "name": "Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALX1-related frontonasal dysplasia", "frontonasal dysplasia type 3"], "xref": ["DOID:0081047", "GARD:0012640", "MEDGEN:462056", "OMIM:613456", "Orphanet:306542", "UMLS:C3150706"]}
{"category": ["biolink:Disease"], "description": "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.", "id": "MONDO:0013272", "name": "Chromosome 14q11-q22 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["14q11.2 microdeletion syndrome", "Del(14)(q11.2)", "chromosome 14q11-q22 deletion syndrome", "chromosome 14q11-q22 deletion syndrome, isolated cases", "monosomy 14q11.2"], "xref": ["DOID:0060392", "GARD:0017241", "MEDGEN:462057", "OMIM:613457", "Orphanet:261120", "SCTID:719047001", "UMLS:C3150707"]}
{"category": ["biolink:Disease"], "description": "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.", "id": "MONDO:0013273", "name": "Chromosome 16p13.3 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["16p13.3 microduplication syndrome", "chromosome 16p13.3 duplication syndrome", "chromosome 16p13.3 duplication syndrome, isolated cases", "distal duplication 16p", "distal trisomy 16p", "dup(16)(p13.3)", "telomeric duplication 16p", "trisomy 16pter"], "xref": ["DOID:0060431", "GARD:0010755", "MEDGEN:462058", "OMIM:613458", "Orphanet:96078", "SCTID:733473000", "UMLS:C3150708"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.", "id": "MONDO:0013274", "name": "Retinitis pigmentosa 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP51", "TTC8 retinitis pigmentosa", "retinitis pigmentosa 51", "retinitis pigmentosa caused by mutation in TTC8", "retinitis pigmentosa type 51"], "xref": ["DOID:0110398", "GARD:0015665", "MEDGEN:462065", "OMIM:613464", "UMLS:C3150715"]}
{"category": ["biolink:Disease"], "description": "A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.", "id": "MONDO:0013275", "name": "Hemolytic anemia due to glucophosphate isomerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNSHA4", "anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient", "glucosephosphate isomerase deficiency", "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"], "xref": ["DOID:0051005", "GARD:0016541", "MEDGEN:543776", "OMIM:613470", "Orphanet:712", "UMLS:C0272064"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).", "id": "MONDO:0013276", "name": "Reynolds syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reynolds syndrome", "primary biliary cirrhosis and systemic scleroderma"], "xref": ["GARD:0004697", "MEDGEN:450547", "OMIM:613471", "Orphanet:779", "SCTID:715401008", "UMLS:C0748397", "icd11.foundation:1409844299"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.", "id": "MONDO:0013277", "name": "Developmental and epileptic encephalopathy, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE5", "EIEE5", "SPTAN1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 5", "early infantile epileptic encephalopathy caused by mutation in SPTAN1", "epileptic encephalopathy, early infantile, 5", "epileptic encephalopathy, early infantile, type 5"], "xref": ["DOID:0080438", "GARD:0012949", "MEDGEN:462081", "OMIM:613477", "UMLS:C3150731"]}
{"category": ["biolink:Disease"], "description": "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.", "id": "MONDO:0013278", "name": "Lymphatic malformation 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GJC2 hereditary lymphedema", "hereditary lymphedema caused by mutation in GJC2", "lymphedema, hereditary, 1C", "lymphedema, hereditary, type 1C"], "xref": ["DOID:0070208", "GARD:0016456", "MEDGEN:1652857", "OMIM:613480", "UMLS:C4747646"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.", "id": "MONDO:0013279", "name": "Long qt syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KCNJ5 long QT syndrome", "LQT13", "long QT syndrome 13", "long QT syndrome caused by mutation in KCNJ5", "long QT syndrome type 13"], "xref": ["DOID:0110654", "GARD:0015666", "MEDGEN:462083", "OMIM:613485", "UMLS:C3150733"]}
{"category": ["biolink:Disease"], "description": "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.", "id": "MONDO:0013280", "name": "Myxoid liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["myxoid liposarcoma", "myxoid liposarcoma (morphologic abnormality)"], "xref": ["DOID:5363", "DOID:5709", "EFO:0000613", "GARD:0015667", "ICD9:171.9", "ICDO:8852/3", "MEDGEN:104903", "MESH:D018208", "NCIT:C27781", "OMIM:613488", "SCTID:404069006", "UMLS:C0206634"]}
{"category": ["biolink:Disease"], "description": "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.", "id": "MONDO:0013281", "name": "Cog4-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIj", "CDG-IIj", "CDG2J", "COG4-CDG", "COG4-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIj", "congenital disorder of glycosylation type 2j", "congenital disorder of glycosylation type IIj"], "xref": ["DOID:0070262", "GARD:0012412", "MEDGEN:929221", "OMIM:613489", "Orphanet:263501", "SCTID:718751000", "UMLS:C4303552"]}
{"category": ["biolink:Disease"], "description": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.", "id": "MONDO:0013282", "name": "Alpha 1-antitrypsin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["A-1ATD", "A1AD", "AAT deficiency", "Alpha-1 Antitrypsin Deficiency", "alpha 1-antitrypsin deficiency", "deficiency in Alpa-1-proteinase inhibitor", "emphysema due to AAT deficiency", "emphysema-cirrhosis, due to AAT deficiency", "hemorrhagic diathesis due to antithrombin pittsburgh"], "xref": ["DOID:13372", "GARD:0005784", "ICD10CM:E88.01", "ICD9:273.4", "MEDGEN:67461", "MESH:D019896", "MedDRA:10001806", "NANDO:1200755", "NANDO:2100174", "NANDO:2200611", "NCIT:C84397", "NORD:754", "OMIM:613490", "Orphanet:60", "SCTID:30188007", "UMLS:C0221757", "icd11.foundation:824872160"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013283", "name": "Immunodeficiency, common variable, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 3", "immunodeficiency, common variable, type 3"], "xref": ["DOID:0081146", "GARD:0015668", "MEDGEN:462088", "OMIM:613493", "UMLS:C3150738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013284", "name": "Immunodeficiency, common variable, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 4", "immunodeficiency, common variable, type 4"], "xref": ["DOID:0081147", "GARD:0015669", "MEDGEN:462089", "OMIM:613494", "Orphanet:696925", "UMLS:C3150739"]}
{"category": ["biolink:Disease"], "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.", "id": "MONDO:0013285", "name": "Immunodeficiency, common variable, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MS4A1 common variable immunodeficiency", "common variable immunodeficiency caused by mutation in MS4A1", "immunodeficiency, common variable, 5", "immunodeficiency, common variable, type 5"], "xref": ["DOID:0081148", "GARD:0015670", "MEDGEN:462090", "OMIM:613495", "UMLS:C3150740"]}
{"category": ["biolink:Disease"], "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.", "id": "MONDO:0013286", "name": "Immunodeficiency, common variable, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD81 common variable immunodeficiency", "common variable immunodeficiency caused by mutation in CD81", "immunodeficiency, common variable, 6", "immunodeficiency, common variable, type 6"], "xref": ["DOID:0081149", "GARD:0015671", "MEDGEN:462091", "OMIM:613496", "UMLS:C3150741"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.", "id": "MONDO:0013287", "name": "Agammaglobulinemia 2, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGM2", "IGLL1 autosomal agammaglobulinemia", "agammaglobulinemia 2, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to IGLL1 defect", "autosomal agammaglobulinemia caused by mutation in IGLL1", "lambda 5 deficiency"], "xref": ["DOID:0060024", "DOID:0081135", "GARD:0015672", "MEDGEN:462100", "OMIM:613500", "UMLS:C3150750"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.", "id": "MONDO:0013288", "name": "Agammaglobulinemia 3, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CD79A autosomal agammaglobulinemia", "agammaglobulinemia 3, autosomal recessive", "autosomal agammaglobulinemia caused by mutation in CD79A"], "xref": ["DOID:0081137", "GARD:0015673", "MEDGEN:462101", "OMIM:613501", "UMLS:C3150751"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.", "id": "MONDO:0013289", "name": "Agammaglobulinemia 4, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGM4", "B cell linker protein deficiency", "BLNK autosomal agammaglobulinemia", "agammaglobulinemia 4, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to Blnk defect", "autosomal agammaglobulinemia caused by mutation in BLNK"], "xref": ["DOID:0060027", "GARD:0015674", "MEDGEN:462102", "OMIM:613502", "UMLS:C3150752"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.", "id": "MONDO:0013290", "name": "Agammaglobulinemia 5, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LRRC8A autosomal agammaglobulinemia", "agammaglobulinemia 5, autosomal dominant", "autosomal agammaglobulinemia caused by mutation in LRRC8A"], "xref": ["DOID:0080588", "GARD:0015675", "MEDGEN:462103", "OMIM:613506", "UMLS:C3150753"]}
{"category": ["biolink:Disease"], "description": "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.", "id": "MONDO:0013291", "name": "Glycogen storage disease xv", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD type 15", "GSD type XV", "GSD with severe cardiomyopathy due to glycogenin deficiency", "glycogen storage disease XV", "glycogen storage disease type 15", "glycogen storage disease type XV", "glycogenosis type 15", "glycogenosis type XV", "glycogenosis with severe cardiomyopathy due to glycogenin deficiency"], "xref": ["DOID:0050579", "GARD:0017254", "MEDGEN:462104", "NANDO:1200837", "OMIM:613507", "Orphanet:263297", "SCTID:717821004", "UMLS:C3150754"]}
{"category": ["biolink:Disease"], "description": "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.", "id": "MONDO:0013292", "name": "Chromosome 4q21 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["4q21 microdeletion syndrome", "Del(4)(q21)", "chromosome 4q21 deletion syndrome", "chromosome 4q21 deletion syndrome, isolated cases", "monosomy 4q21"], "xref": ["DOID:0060420", "GARD:0017181", "MEDGEN:462106", "OMIM:613509", "Orphanet:238750", "SCTID:719660008", "UMLS:C3150756"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos.", "id": "MONDO:0013293", "name": "Isolated microphthalmia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOP6", "PRSS56 isolated microphthalmia", "PRSS56-related nanophthalmos", "isolated microphthalmia caused by mutation in PRSS56", "isolated microphthalmia type 6", "microphthalmia, isolated type 6"], "xref": ["DOID:0060835", "GARD:0018628", "MEDGEN:462107", "OMIM:613517", "UMLS:C3150757"]}
{"category": ["biolink:Disease"], "description": "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.", "id": "MONDO:0013296", "name": "Myeloid neoplasm associated with fgfr1 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["8p11 myeloproliferative syndrome", "8p11 stem cell leukemia/lymphoma syndrome", "8p11 stem cell syndrome", "chromosome 8p11 myeloproliferative syndrome", "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities", "myeloid and lymphoid neoplasms with FGFR1 rearrangement", "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement", "myeloid/lymphoid neoplasms with FGFR1 rearrangement", "stem cell leukemia/lymphoma"], "xref": ["DOID:0080167", "GARD:0017043", "ICDO:9967/3", "MEDGEN:462123", "NCIT:C84277", "OMIM:613523", "ONCOTREE:MLNFGFR1", "Orphanet:168953", "UMLS:C3150773", "icd11.foundation:2019647878"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.", "id": "MONDO:0013297", "name": "Autosomal dominant limb-girdle muscular dystrophy type 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD1H"], "xref": ["DOID:0110303", "GARD:0012532", "MEDGEN:462136", "OMIM:613530", "Orphanet:238755", "UMLS:C3150786"]}
{"category": ["biolink:Disease"], "description": "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.", "id": "MONDO:0013298", "name": "Chromosome 17q21.31 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17q21.31 microduplication syndrome", "chromosome 17q21.31 duplication syndrome", "dup(17)(q21.31)", "trisomy 17q21.31"], "xref": ["DOID:0060434", "GARD:0017121", "MEDGEN:901723", "OMIM:613533", "Orphanet:217340", "SCTID:716683005", "UMLS:C4274345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013299", "name": "Chromosome 6q11-q14 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 6q11-q14 deletion syndrome", "chromosome 6q11-q14 deletion syndrome, isolated cases"], "xref": ["DOID:0060423", "GARD:0024911", "MEDGEN:462140", "OMIM:613544", "UMLS:C3150790"]}
{"category": ["biolink:Disease"], "description": "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)", "id": "MONDO:0013300", "name": "Commissural facial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["macrostomia"], "xref": ["GARD:0016975", "ICD10CM:Q18.4", "ICD9:744.83", "MEDGEN:462142", "MESH:D008265", "OMIM:613545", "Orphanet:141276", "SCTID:40159009", "UMLS:C3150792", "icd11.foundation:1460924303"]}
{"category": ["biolink:Disease"], "description": "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.", "id": "MONDO:0013301", "name": "Aromatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aromatase deficiency", "congenital estrogen deficiency", "congenital oestrogen deficiency"], "xref": ["GARD:0000365", "MEDGEN:743307", "MESH:C537436", "NCIT:C120144", "OMIM:613546", "Orphanet:91", "UMLS:C1960539", "icd11.foundation:260189446"]}
{"category": ["biolink:Disease"], "description": "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.", "id": "MONDO:0013302", "name": "Nephronophthisis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["NPHP11", "nephronophthisis 11", "nephronophthisis type 11"], "xref": ["DOID:0111118", "GARD:0018080", "MEDGEN:462146", "OMIM:613550", "UMLS:C3150796"]}
{"category": ["biolink:Disease"], "description": "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).", "id": "MONDO:0013304", "name": "Von willebrand disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["VWD2", "von Willebrand disease 2", "von Willebrand disease type 2", "von Willebrand disease, types 2A, 2B, 2M, and 2N", "von Willebrand's disease type 2", "von willebrand's disease 2"], "xref": ["DOID:0060574", "GARD:0017020", "MEDGEN:224736", "MESH:D056728", "OMIM:613554", "Orphanet:166081", "SCTID:128107007", "UMLS:C1264040"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.", "id": "MONDO:0013305", "name": "Autosomal dominant nonsyndromic hearing loss 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 9q21.11 duplication syndrome"], "xref": ["DOID:0110577", "GARD:0018133", "MEDGEN:463625", "OMIM:613558", "UMLS:C3160736"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.", "id": "MONDO:0013306", "name": "Combined oxidative phosphorylation defect type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C12ORF65 combined oxidative phosphorylation deficiency", "C12orf65 combined oxidative phosphorylation deficiency", "COXPD7", "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65", "combined oxidative phosphorylation deficiency caused by mutation in C12orf65", "combined oxidative phosphorylation deficiency type 7", "severe C12ORF65-related COXPD", "severe C12ORF65-related combined oxidative phosphorylation defect"], "xref": ["DOID:0111487", "GARD:0017234", "MEDGEN:462151", "OMIM:613559", "Orphanet:254930", "SCTID:763204003", "UMLS:C3150801"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.", "id": "MONDO:0013307", "name": "Myopathy, lactic acidosis, and sideroblastic anemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["YARS2 mitochondrial myopathy and sideroblastic anaemia", "YARS2 mitochondrial myopathy and sideroblastic anemia", "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2", "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2", "myopathy, lactic acidosis, and sideroblastic Anaemia type 2", "myopathy, lactic acidosis, and sideroblastic Anemia type 2", "myopathy, lactic acidosis, and sideroblastic anemia 2"], "xref": ["DOID:0111186", "GARD:0015676", "MEDGEN:462152", "OMIM:613561", "UMLS:C3150802"]}
{"category": ["biolink:Disease"], "description": "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.", "id": "MONDO:0013308", "name": "Cbl-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CBL-related disorder", "Cbl syndrome", "Noonan syndrome-like disorder with JMML", "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia", "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia", "Noonan-like syndrome"], "xref": ["GARD:0017577", "MEDGEN:462153", "OMIM:613563", "Orphanet:363972", "UMLS:C3150803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013309", "name": "Chromosome 2p12-p11.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 2p12-p11.2 deletion syndrome"], "xref": ["DOID:0060414", "GARD:0024912", "MEDGEN:462154", "OMIM:613564", "UMLS:C3150804"]}
{"category": ["biolink:Disease"], "description": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.", "id": "MONDO:0013310", "name": "Congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["POR deficiency", "PORD", "congenital adrenal hyperplasia due to cytochrome POR deficiency"], "xref": ["DOID:0080925", "GARD:0012664", "MEDGEN:348008", "NANDO:1200402", "NANDO:2200375", "NCIT:C174439", "OMIM:613571", "Orphanet:95699", "SCTID:715733000", "UMLS:C1860042", "icd11.foundation:497412536"]}
{"category": ["biolink:Disease"], "description": "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.", "id": "MONDO:0013311", "name": "Ectodermal dysplasia-syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["EDSS", "EDSS1", "ectodermal dysplasia-syndactyly syndrome type 1"], "xref": ["GARD:0017198", "MEDGEN:1648397", "OMIMPS:613573", "Orphanet:247820", "UMLS:C4749852"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.", "id": "MONDO:0013312", "name": "Retinitis pigmentosa 55", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARL6 retinitis pigmentosa", "RP55", "retinitis pigmentosa 55", "retinitis pigmentosa caused by mutation in ARL6", "retinitis pigmentosa type 55"], "xref": ["DOID:0110370", "GARD:0015677", "MEDGEN:462158", "OMIM:613575", "UMLS:C3150808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013313", "name": "Ectodermal dysplasia-cutaneous syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDCS", "EDSS2"], "xref": ["GARD:0017199", "MEDGEN:462159", "OMIM:613576", "Orphanet:247827", "UMLS:C3150809"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.", "id": "MONDO:0013314", "name": "Retinitis pigmentosa 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPG2 retinitis pigmentosa", "RP56", "retinitis pigmentosa 56", "retinitis pigmentosa caused by mutation in IMPG2", "retinitis pigmentosa type 56"], "xref": ["DOID:0110371", "GARD:0015678", "MEDGEN:462169", "OMIM:613581", "UMLS:C3150819"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.", "id": "MONDO:0013315", "name": "Retinitis pigmentosa 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE6G retinitis pigmentosa", "RP57", "retinitis pigmentosa 57", "retinitis pigmentosa caused by mutation in PDE6G", "retinitis pigmentosa type 57"], "xref": ["DOID:0110407", "GARD:0015679", "MEDGEN:462171", "OMIM:613582", "UMLS:C3150821"]}
{"category": ["biolink:Disease"], "description": "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.", "id": "MONDO:0013316", "name": "Occult macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCMD", "OMD", "occult macular dystrophy"], "xref": ["DOID:0050578", "GARD:0017200", "MEDGEN:462183", "NANDO:1200934", "OMIM:613587", "Orphanet:247834", "UMLS:C3150833", "icd11.foundation:863463706"]}
{"category": ["biolink:Disease"], "description": "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.", "id": "MONDO:0013317", "name": "Torsade-de-pointes syndrome with short coupling interval", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016651", "MEDGEN:462201", "OMIM:613600", "Orphanet:51084", "SCTID:718104007", "UMLS:C3150851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013318", "name": "Early repolarization associated with ventricular fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["early repolarization associated with ventricular fibrillation"], "xref": ["MEDGEN:462202", "OMIM:613601", "UMLS:C3150852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013319", "name": "Chromosome 4q32.1-q32.2 triplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 4Q32.1-q32.2 triplication syndrome"], "xref": ["GARD:0024913", "MEDGEN:462207", "OMIM:613603", "UMLS:C3150857"]}
{"category": ["biolink:Disease"], "description": "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.", "id": "MONDO:0013320", "name": "Chromosome 16p12.2-p11.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["16p11.2-p12.2 microdeletion syndrome", "16p11.2p12.2 microdeletion syndrome", "Del(16)(p11.2p12.2)", "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases", "monosomy 16p11.2-p12.2", "monosomy 16p11.2p12.2"], "xref": ["DECIPHER:68", "DOID:0060400", "GARD:0017243", "MEDGEN:462208", "OMIM:613604", "Orphanet:261211", "SCTID:719576009", "UMLS:C3150858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013321", "name": "Forsythe-wakeling syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FWS"], "xref": ["MEDGEN:462209", "OMIM:613606", "UMLS:C3150859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013322", "name": "Epilepsy, familial adult myoclonic, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FAME3"], "xref": ["DOID:0111695", "GARD:0018084", "MEDGEN:462210", "MESH:C567098", "OMIM:613608", "UMLS:C3150860"]}
{"category": ["biolink:Disease"], "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.", "id": "MONDO:0013323", "name": "Cranioectodermal dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cranioectodermal dysplasia type 2", "WDR35 cranioectodermal dysplasia", "WDR35-related cranioectodermal dysplasia", "cranioectodermal dysplasia 2", "cranioectodermal dysplasia caused by mutation in WDR35"], "xref": ["DOID:0080804", "GARD:0015680", "MEDGEN:462224", "OMIM:613610", "UMLS:C3150874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013324", "name": "Lymphedema-posterior choanal atresia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016898", "MEDGEN:462225", "OMIM:613611", "Orphanet:99141", "UMLS:C3150875"]}
{"category": ["biolink:Disease"], "description": "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.", "id": "MONDO:0013325", "name": "Cog5-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type III", "CDG-III", "CDG2I", "COG5-CDG", "COG5-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type III", "congenital disorder of glycosylation type 2i", "congenital disorder of glycosylation type III"], "xref": ["DOID:0070261", "GARD:0012348", "MEDGEN:462226", "OMIM:613612", "Orphanet:263487", "SCTID:721100009", "UMLS:C3150876"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.", "id": "MONDO:0013326", "name": "Senior-loken syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SDCCAG8 Senior-Loken syndrome", "Senior-Loken syndrome 7", "Senior-Loken syndrome caused by mutation in SDCCAG8", "Senior-Loken syndrome type 7"], "xref": ["DOID:0061281", "GARD:0015681", "MEDGEN:462227", "OMIM:613615", "UMLS:C3150877"]}
{"category": ["biolink:Disease"], "description": "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.", "id": "MONDO:0013327", "name": "Primary hyperoxaluria type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HOGA1 primary hyperoxaluria", "primary hyperoxaluria caused by mutation in HOGA1", "primary hyperoxaluria type III"], "xref": ["DOID:0111672", "GARD:0010738", "MEDGEN:462228", "NCIT:C123214", "OMIM:613616", "Orphanet:93600", "SCTID:734990008", "UMLS:C3150878"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.", "id": "MONDO:0013328", "name": "Retinitis pigmentosa 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP58", "ZNF513 retinitis pigmentosa", "retinitis pigmentosa 58", "retinitis pigmentosa caused by mutation in ZNF513", "retinitis pigmentosa type 58"], "xref": ["DOID:0110362", "GARD:0015682", "MEDGEN:462229", "OMIM:613617", "UMLS:C3150879"]}
{"category": ["biolink:Disease"], "description": "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.", "id": "MONDO:0013329", "name": "Familial clubfoot due to 17q23.1q23.2 microduplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["hereditary clubfoot due to 17q23.1-q23.2 microduplication"], "xref": ["GARD:0017177", "MEDGEN:462230", "OMIM:613618", "Orphanet:238578", "UMLS:C3150880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013330", "name": "Agenesis of the corpus callosum and congenital lymphedema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["agenesis of the corpus callosum and congenital lymphedema"], "xref": ["MEDGEN:462237", "OMIM:613623", "UMLS:C3150887"]}
{"category": ["biolink:Disease"], "description": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.", "id": "MONDO:0013331", "name": "Factor 5 and factor viii, combined deficiency of, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCFD2 combined deficiency of factor V and factor VIII", "combined deficiency of factor V and factor VIII caused by mutation in MCFD2", "factor 5 and Factor VIII, combined deficiency of, 2", "factor 5 and Factor VIII, combined deficiency of, type 2", "factor V and factor VIII, combined deficiency of"], "xref": ["GARD:0018632", "MEDGEN:462239", "OMIM:613625", "UMLS:C3150889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013332", "name": "Brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability", "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation"], "xref": ["MEDGEN:462240", "OMIM:613627", "SCTID:719162001", "UMLS:C3150890"]}
{"category": ["biolink:Disease"], "description": "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.", "id": "MONDO:0013333", "name": "Odontoid hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["odontoid hypoplasia"], "xref": ["GARD:0024914", "MEDGEN:339524", "NCIT:C86969", "OMIM:613628", "UMLS:C1846439"]}
{"category": ["biolink:Disease"], "description": "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.", "id": "MONDO:0013334", "name": "Cocoon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cocoon syndrome", "fetal encasement syndrome", "foetal encasement syndrome"], "xref": ["DOID:0060647", "GARD:0017823", "MEDGEN:462241", "OMIM:613630", "Orphanet:465824", "UMLS:C3150891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013335", "name": "Tuberculin skin test reactivity, absence of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tuberculin skin test reactivity, absence of"], "xref": ["MEDGEN:462242", "OMIM:613636", "UMLS:C3150892"]}
{"category": ["biolink:Disease"], "description": "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).", "id": "MONDO:0013336", "name": "Chromosome 19p13.13 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(19)(p13.13)", "chromosome 19p13.13 deletion syndrome", "monosomy 19p13.13"], "xref": ["DOID:0060426", "GARD:0017542", "MEDGEN:462244", "OMIM:613638", "Orphanet:357001", "SCTID:764440006", "UMLS:C3150894"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.", "id": "MONDO:0013337", "name": "Neuropathy, hereditary sensory and autonomic, type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSAN1C"], "xref": ["DOID:0070157", "GARD:0015683", "MEDGEN:462246", "OMIM:613640", "UMLS:C3150896"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.", "id": "MONDO:0013338", "name": "Charcot-marie-tooth disease recessive intermediate b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTRIB", "Charcot-Marie-Tooth disease caused by mutation in KARS", "Charcot-Marie-Tooth disease recessive intermediate type B", "Charcot-Marie-Tooth disease, recessive Intermediate type B", "KARS Charcot-Marie-Tooth disease", "RI-CMT type B", "RI-CMTB", "autosomal recessive intermediate Charcot-Marie-Tooth disease type B"], "xref": ["DOID:0110204", "GARD:0012454", "MEDGEN:462247", "OMIM:613641", "Orphanet:254334", "UMLS:C3150897"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.", "id": "MONDO:0013339", "name": "Dilated cardiomyopathy 1gg", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1GG", "SDHA familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Gg", "dilated cardiomyopathy type 1GG", "familial isolated dilated cardiomyopathy caused by mutation in SDHA"], "xref": ["DOID:0110435", "GARD:0015684", "MEDGEN:462248", "OMIM:613642", "UMLS:C3150898"]}
{"category": ["biolink:Disease"], "description": "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.", "id": "MONDO:0013341", "name": "Methylmalonic acidemia due to transcobalamin receptor defect", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_biological_anomaly", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD320 methylmalonic acidemia", "methylmalonic acidemia caused by mutation in CD320", "methylmalonic acidemia, TCb1R type", "methylmalonic acidemia, TCbIR type", "methylmalonic aciduria due to transcobalamin receptor defect"], "xref": ["DOID:0060741", "GARD:0016481", "MEDGEN:1670056", "OMIM:613646", "Orphanet:280183", "UMLS:C4749905"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.", "id": "MONDO:0013342", "name": "Hereditary spastic paraplegia 48", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP5Z1 hereditary spastic paraplegia", "SPG48", "autosomal recessive spastic paraplegia type 48", "hereditary spastic paraplegia caused by mutation in AP5Z1", "hereditary spastic paraplegia type 48"], "xref": ["DOID:0110800", "GARD:0017378", "MEDGEN:462251", "OMIM:613647", "Orphanet:306511", "SCTID:763367009", "UMLS:C3150901"]}
{"category": ["biolink:Disease"], "description": "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.", "id": "MONDO:0013343", "name": "C1q deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["C1Q deficiency", "C1QD", "C1q deficiency"], "xref": ["GARD:0012958", "MEDGEN:462252", "NANDO:2200777", "NCIT:C119990", "OMIMPS:613652", "UMLS:C3150902"]}
{"category": ["biolink:Disease"], "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.", "id": "MONDO:0013345", "name": "D-2-hydroxyglutaric aciduria 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["D-2-hydroxyglutaric aciduria caused by mutation in IDH2", "D-2-hydroxyglutaric aciduria type 2", "IDH2 D-2-hydroxyglutaric aciduria", "d-2-hydroxyglutaric aciduria 2"], "xref": ["DOID:0111352", "GARD:0015685", "MEDGEN:462259", "OMIM:613657", "UMLS:C3150909"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.", "id": "MONDO:0013348", "name": "Cone-rod dystrophy 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDHR1 cone-rod dystrophy", "CORD15", "cone-rod dystrophy 15", "cone-rod dystrophy caused by mutation in CDHR1", "cone-rod dystrophy type 15"], "xref": ["DOID:0111021", "GARD:0015686", "MEDGEN:462262", "OMIM:613660", "UMLS:C3150912"]}
{"category": ["biolink:Disease"], "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).", "id": "MONDO:0013349", "name": "Alg11-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG11-CDG", "ALG11-congenital disorder of glycosylation", "CDG syndrome type Ip", "CDG-Ip", "CDG1P", "carbohydrate deficient glycoprotein syndrome type Ip", "congenital disorder of glycosylation type 1p", "congenital disorder of glycosylation type Ip"], "xref": ["DOID:0080567", "GARD:0012396", "MEDGEN:462263", "OMIM:613661", "Orphanet:280071", "SCTID:733085004", "UMLS:C3150913"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013350", "name": "Mitochondrial dna depletion syndrome 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mitochondrial DNA depletion syndrome type 4b"], "xref": ["DOID:0080123", "GARD:0024915", "MEDGEN:462264", "OMIM:613662", "UMLS:C3150914"]}
{"category": ["biolink:Disease"], "description": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.", "id": "MONDO:0013351", "name": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111262", "GARD:0010995", "MEDGEN:462271", "OMIM:613668", "Orphanet:402364", "UMLS:C3150921"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family).", "id": "MONDO:0013352", "name": "Intellectual disability-severe speech delay-mild dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FOXP1 haploinsufficiency", "FOXP1 syndrome", "FOXP1-related neurodevelopmental disorder", "intellectual disability-severe speech delay-mild dysmorphism syndrome"], "xref": ["DOID:0111331", "GARD:0012501", "MEDGEN:862201", "OMIM:613670", "Orphanet:391372", "UMLS:C4013764"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013353", "name": "Intellectual disability, anterior maxillary protrusion, and strabismus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intellectual disability, anterior maxillary protrusion, and strabismus"], "xref": ["GARD:0017997", "MEDGEN:462274", "OMIM:613671", "Orphanet:562559", "UMLS:C3150924"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.", "id": "MONDO:0013354", "name": "Spastic ataxia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTPAP autosomal recessive spastic ataxia", "SPAX4", "autosomal recessive spastic ataxia caused by mutation in MTPAP", "autosomal recessive spastic ataxia type 4", "spastic ataxia type 4"], "xref": ["DOID:0050943", "GARD:0010992", "MEDGEN:462275", "OMIM:613672", "Orphanet:254343", "UMLS:C3150925"]}
{"category": ["biolink:Disease"], "description": "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.", "id": "MONDO:0013355", "name": "Congenital dyserythropoietic anemia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDA IV", "CDA due to KLF1 mutation", "CDA type 4", "CDA type IV", "CDAN4", "congenital dyserythropoietic anemia due to KLF1 mutation", "congenital dyserythropoietic anemia type 4", "dyserythropoietic anemia, congenital, type IV"], "xref": ["DOID:0111400", "GARD:0017344", "MEDGEN:462276", "OMIM:613673", "Orphanet:293825", "SCTID:719453009", "UMLS:C3150926"]}
{"category": ["biolink:Disease"], "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.", "id": "MONDO:0013356", "name": "Vesicoureteral reflux 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SOX17 vesicoureteral reflux (disease)", "vesicoureteral reflux (disease) caused by mutation in SOX17", "vesicoureteral reflux 3", "vesicoureteral reflux type 3"], "xref": ["GARD:0018420", "MEDGEN:462277", "OMIM:613674", "UMLS:C3150927"]}
{"category": ["biolink:Disease"], "description": "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.", "id": "MONDO:0013357", "name": "Chromosome 17q11.2 deletion syndrome, 1.4mb", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["17q11 microdeletion syndrome", "Del(17)(q11)", "MMFD", "NF1 microdeletion syndrome", "RNF135-related overgrowth syndrome", "Van Asperen syndrome", "chromosome 17q11.2 deletion syndrome", "chromosome 17q11.2 deletion syndrome, 1.4-MB", "macrocephaly, macrosomia, and facial dysmorphism syndrome", "monosomy 17q11", "neurofibromatosis 1 microdeletion syndrome", "neurofibromatosis type 1 microdeletion syndrome", "overgrowth-macrocephaly-facial dysmorphism syndrome"], "xref": ["DOID:0060403", "GARD:0005408", "MEDGEN:1726802", "MESH:C563524", "OMIM:613675", "Orphanet:137634", "Orphanet:97685", "SCTID:722122000", "UMLS:C5401456"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.", "id": "MONDO:0013358", "name": "Seckel syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CENPJ Seckel syndrome", "SCKL4", "Seckel syndrome 4", "Seckel syndrome caused by mutation in CENPJ", "Seckel syndrome type 4"], "xref": ["DOID:0070010", "GARD:0015687", "MEDGEN:854819", "OMIM:613676", "UMLS:C3888212"]}
{"category": ["biolink:Disease"], "description": "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.", "id": "MONDO:0013359", "name": "Familial hyperaldosteronism type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FH-III", "FH3", "familial hyperaldosteronism type 3"], "xref": ["DOID:0061248", "GARD:0012362", "MEDGEN:824604", "OMIM:613677", "Orphanet:251274", "SCTID:703234002", "UMLS:C3838758"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.", "id": "MONDO:0013360", "name": "Brachyolmia, maroteaux type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachyolmia type 2", "brachyolmia, Maroteaux type"], "xref": ["GARD:0016816", "MEDGEN:1777254", "OMIM:613678", "Orphanet:93302", "SCTID:389165004", "UMLS:C5399913"]}
{"category": ["biolink:Disease"], "description": "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.", "id": "MONDO:0013361", "name": "Congenital prothrombin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dysprothrombinemia", "congenital prothrombin deficiency", "hereditary prothrombin deficiency"], "xref": ["DOID:2235", "GARD:0002926", "ICD9:286.3", "MEDGEN:124425", "MESH:D007020", "NANDO:2200673", "NCIT:C131737", "OMIM:613679", "Orphanet:325", "SCTID:73975000", "UMLS:C0272317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013362", "name": "Thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBIS", "Beaulieu-Boycott-Innes syndrome"], "xref": ["GARD:0017558", "MEDGEN:462289", "OMIM:613680", "Orphanet:363444", "UMLS:C3150939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013363", "name": "Chromosome 2q31.1 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["2q31.1 microduplication syndrome", "chromosome 2q31.1 duplication syndrome", "dup(2)(q31.1)", "trisomy 2q31.1"], "xref": ["DOID:0060458", "GARD:0015688", "MEDGEN:462290", "OMIM:613681", "Orphanet:294026", "UMLS:C3150940"]}
{"category": ["biolink:Disease"], "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.", "id": "MONDO:0013364", "name": "Rubinstein-taybi syndrome due to ep300 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["EP300 Rubinstein-Taybi syndrome", "Rubinstein-Taybi syndrome caused by mutation in EP300", "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "Rubinstein-Taybi syndrome type 2"], "xref": ["GARD:0017535", "MEDGEN:462291", "NCIT:C153291", "OMIM:613684", "Orphanet:353284", "UMLS:C3150941"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.", "id": "MONDO:0013365", "name": "Autosomal recessive nonsyndromic hearing loss 83", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110528", "GARD:0022637", "MEDGEN:854856", "OMIM:613685", "UMLS:C3888310"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.", "id": "MONDO:0013366", "name": "Spondylocostal dysostosis 4, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HES7 autosomal recessive spondylocostal dysostosis", "Hes7 autosomal recessive spondylocostal dysostosis", "autosomal recessive spondylocostal dysostosis caused by mutation in HES7", "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7", "spondylocostal dysostosis 4, autosomal recessive"], "xref": ["DOID:0112364", "GARD:0004976", "MEDGEN:462292", "OMIM:613686", "UMLS:C3150942"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.", "id": "MONDO:0013367", "name": "Long qt syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["LQT2", "Long QT syndrome, acquired, reduced susceptibility to", "long QT syndrome 2", "long QT syndrome type 2"], "xref": ["DOID:0110645", "GARD:0003285", "HGNC:6251", "MEDGEN:462293", "MESH:C563614", "NCIT:C137957", "OMIM:613688", "UMLS:C3150943"]}
{"category": ["biolink:Disease"], "description": "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.", "id": "MONDO:0013368", "name": "Mammary-digital-nail syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDN syndrome", "mammary-digital-nail syndrome", "onycho-digito-mammary syndrome"], "xref": ["GARD:0017180", "MEDGEN:462296", "OMIM:613689", "Orphanet:238744", "SCTID:718679004", "UMLS:C3150946"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.", "id": "MONDO:0013369", "name": "Hypertrophic cardiomyopathy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH7", "TNNI3 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 7", "cardiomyopathy, hypertrophic, 7", "hypertrophic cardiomyopathy 7", "hypertrophic cardiomyopathy caused by mutation in TNNI3", "hypertrophic cardiomyopathy type 7"], "xref": ["DOID:0110313", "GARD:0024916", "MEDGEN:348695", "OMIM:613690", "UMLS:C1860752"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.", "id": "MONDO:0013370", "name": "Long qt syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNE2 long QT syndrome", "LQT6", "long QT syndrome 6", "long QT syndrome caused by mutation in KCNE2", "long QT syndrome type 6"], "xref": ["DOID:0110648", "GARD:0010434", "HGNC:6242", "MEDGEN:462303", "MESH:C566333", "OMIM:613693", "UMLS:C3150953"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.", "id": "MONDO:0013371", "name": "Dilated cardiomyopathy 1u", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1U", "PSEN1 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1U", "dilated cardiomyopathy type 1U", "familial isolated dilated cardiomyopathy caused by mutation in PSEN1"], "xref": ["DOID:0110455", "GARD:0015689", "MEDGEN:463620", "MESH:C566296", "OMIM:613694", "UMLS:C3160720"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.", "id": "MONDO:0013372", "name": "Long qt syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KCNE1 long QT syndrome", "LQT5", "long QT syndrome 5", "long QT syndrome caused by mutation in KCNE1", "long QT syndrome type 5"], "xref": ["DOID:0110647", "GARD:0010433", "HGNC:6240", "MEDGEN:358092", "MESH:C566766", "NCIT:C172094", "OMIM:613695", "UMLS:C1867904"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.", "id": "MONDO:0013373", "name": "Dilated cardiomyopathy 1v", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1V", "PSEN2 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1V", "dilated cardiomyopathy type 1V", "familial isolated dilated cardiomyopathy caused by mutation in PSEN2"], "xref": ["DOID:0110427", "GARD:0015690", "MEDGEN:462308", "MESH:C566856", "OMIM:613697", "UMLS:C3150958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013374", "name": "Supernumerary der(22)t(8;22) syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["22) syndrome", "supernumerary der(22)t(8", "supernumerary der(22)t(8-22) syndrome"], "xref": ["OMIM:613700"]}
{"category": ["biolink:Disease"], "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.", "id": "MONDO:0013375", "name": "Klippel-feil syndrome 3, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF3 isolated Klippel-Feil syndrome", "Klippel-Feil syndrome 3, autosomal dominant", "isolated Klippel-Feil syndrome caused by mutation in GDF3"], "xref": ["DOID:0080591", "GARD:0015691", "MEDGEN:462317", "OMIM:613702", "UMLS:C3150967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013376", "name": "Microphthalmia, isolated, with coloboma 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microphthalmia with coloboma 6", "microphthalmia with coloboma 6, digenic", "microphthalmia, isolated, with coloboma 6", "microphthalmia, isolated, with coloboma type 6"], "xref": ["GARD:0015692", "MEDGEN:462318", "OMIM:613703", "UMLS:C3150968"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.", "id": "MONDO:0013377", "name": "Isolated microphthalmia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF3 isolated microphthalmia", "MCOP7", "isolated microphthalmia caused by mutation in GDF3", "isolated microphthalmia type 7", "microphthalmia, isolated type 7"], "xref": ["DOID:0060838", "GARD:0024917", "MEDGEN:462319", "OMIM:613704", "UMLS:C3150969"]}
{"category": ["biolink:Disease"], "description": "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.", "id": "MONDO:0013378", "name": "Orofacial cleft 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SUMO1 orofacial cleft", "orofacial cleft 10", "orofacial cleft 10, isolated cases", "orofacial cleft caused by mutation in SUMO1", "orofacial cleft type 10"], "xref": ["DOID:0080403", "GARD:0018306", "MEDGEN:355621", "MESH:C566605", "OMIM:613705", "UMLS:C1866070"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.", "id": "MONDO:0013379", "name": "Noonan syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BRAF Noonan syndrome", "NS7", "Noonan syndrome 7", "Noonan syndrome caused by mutation in BRAF", "Noonan syndrome type 7"], "xref": ["DOID:0060585", "GARD:0015693", "MEDGEN:462320", "NCIT:C176935", "OMIM:613706", "UMLS:C3150970"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.", "id": "MONDO:0013380", "name": "Leopard syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BRAF Noonan syndrome with multiple lentigines", "LEOPARD syndrome 3", "Leopard syndrome type 3", "Noonan syndrome with multiple lentigines caused by mutation in BRAF", "leopard syndrome 3"], "xref": ["DOID:0080550", "GARD:0015694", "MEDGEN:462321", "OMIM:613707", "UMLS:C3150971"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.", "id": "MONDO:0013381", "name": "Neuropathy, hereditary sensory, type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSN1D"], "xref": ["DOID:0070156", "GARD:0015695", "MEDGEN:462322", "OMIM:613708", "UMLS:C3150972"]}
{"category": ["biolink:Disease"], "description": "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.", "id": "MONDO:0013382", "name": "Progressive demyelinating neuropathy with bilateral striatal necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)"], "xref": ["GARD:0017123", "MEDGEN:462323", "OMIM:613710", "Orphanet:217396", "UMLS:C3150973"]}
{"category": ["biolink:Disease"], "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.", "id": "MONDO:0013385", "name": "Treacher collins syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POLR1D Treacher-Collins syndrome", "Treacher Collins syndrome 2", "Treacher Collins syndrome type 2", "Treacher-Collins syndrome caused by mutation in POLR1D"], "xref": ["DOID:0080790", "GARD:0015698", "MEDGEN:462333", "OMIM:613717", "UMLS:C3150983"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.", "id": "MONDO:0013386", "name": "Autosomal recessive nonsyndromic hearing loss 74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110523", "GARD:0022638", "MEDGEN:453237", "OMIM:613718", "UMLS:C2239351"]}
{"category": ["biolink:Disease"], "description": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.", "id": "MONDO:0013387", "name": "Developmental and epileptic encephalopathy, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEE7", "EIEE7", "KCNQ2-NEE", "developmental and epileptic encephalopathy 7", "epileptic encephalopathy, early infantile, 7", "epileptic encephalopathy, early infantile, type 7"], "xref": ["DOID:0080462", "GARD:0013060", "MEDGEN:462336", "OMIM:613720", "Orphanet:439218", "UMLS:C3150986"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.", "id": "MONDO:0013388", "name": "Developmental and epileptic encephalopathy, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE11", "EIEE11", "SCN2A early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 11", "early infantile epileptic encephalopathy caused by mutation in SCN2A", "epileptic encephalopathy, early infantile, 11", "epileptic encephalopathy, early infantile, type 11"], "xref": ["DOID:0080421", "GARD:0015699", "MEDGEN:462337", "OMIM:613721", "UMLS:C3150987"]}
{"category": ["biolink:Disease"], "description": "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.", "id": "MONDO:0013389", "name": "Developmental and epileptic encephalopathy, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE12", "EIEE12", "PLCB1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 12", "developmental and epileptic encephalopathy, 12", "early infantile epileptic encephalopathy 12", "early infantile epileptic encephalopathy caused by mutation in PLCB1", "epileptic encephalopathy, early infantile, 12", "epileptic encephalopathy, early infantile, type 12"], "xref": ["DOID:0080459", "GARD:0013318", "MEDGEN:462338", "OMIM:613722", "UMLS:C3150988"]}
{"category": ["biolink:Disease"], "description": "A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.", "id": "MONDO:0013390", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2q", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2Q", "muscular dystrophy, limb-girdle, autosomal recessive 17", "muscular dystrophy, limb-girdle, type 2Q"], "xref": ["DOID:0110285", "GARD:0012542", "MEDGEN:462339", "OMIM:613723", "Orphanet:254361", "UMLS:C3150989"]}
{"category": ["biolink:Disease"], "description": "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.", "id": "MONDO:0013391", "name": "Sterol carrier protein 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCP2 deficiency", "leukoencephalopathy-dystonia-motor neuropathy syndrome", "sterol carrier protein 2 deficiency"], "xref": ["GARD:0012471", "MEDGEN:462340", "NANDO:1200767", "OMIM:613724", "Orphanet:163684", "UMLS:C3150990"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.", "id": "MONDO:0013392", "name": "Autosomal recessive spinocerebellar ataxia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANO10 autosomal recessive cerebellar ataxia", "SCAR10", "autosomal recessive cerebellar ataxia caused by mutation in ANO10", "autosomal recessive spinocerebellar ataxia type 10", "spinocerebellar ataxia, autosomal recessive type 10"], "xref": ["DOID:0050999", "GARD:0017314", "MEDGEN:462348", "OMIM:613728", "Orphanet:284289", "UMLS:C3150998"]}
{"category": ["biolink:Disease"], "description": "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).", "id": "MONDO:0013393", "name": "Distal 7q11.23 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 7q11.23 deletion syndrome, distal, 1.2mb", "distal del(7)(q11.23)", "distal monosomy 7q11.23"], "xref": ["GARD:0017218", "MEDGEN:462349", "OMIM:613729", "Orphanet:254351", "UMLS:C3150999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013394", "name": "Porencephaly-microcephaly-bilateral congenital cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["porencephaly-microcephaly-bilateral congenital cataract syndrome"], "xref": ["GARD:0017380", "MEDGEN:462350", "OMIM:613730", "Orphanet:306547", "UMLS:C3151000"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.", "id": "MONDO:0013395", "name": "Retinitis pigmentosa 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RHO retinitis pigmentosa", "RP4", "retinitis pigmentosa 4", "retinitis pigmentosa 4, autosomal dominant or recessive", "retinitis pigmentosa caused by mutation in RHO", "retinitis pigmentosa type 4"], "xref": ["DOID:0110372", "GARD:0010405", "HGNC:10012", "MEDGEN:462351", "MESH:C566706", "OMIM:613731", "UMLS:C3151001"]}
{"category": ["biolink:Disease"], "description": "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.", "id": "MONDO:0013396", "name": "Chromosome 1p32-p31 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["1p31p32 microdeletion syndrome", "Del(1)(p31p32)", "chromosome 1p32-p31 deletion syndrome", "monosomy 1p31p32"], "xref": ["DOID:0060409", "GARD:0017668", "MEDGEN:1636078", "Orphanet:401986", "SCTID:766766005", "UMLS:C4707828"]}
{"category": ["biolink:Disease"], "description": "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.", "id": "MONDO:0013397", "name": "Acne inversa, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PSENEN familial acne inversa", "acne inversa, familial, 2", "acne inversa, familial, type 2", "familial acne inversa caused by mutation in PSENEN"], "xref": ["MEDGEN:462387", "OMIM:613736", "UMLS:C3151037"]}
{"category": ["biolink:Disease"], "description": "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.", "id": "MONDO:0013398", "name": "Acne inversa, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PSEN1 familial acne inversa", "acne inversa, familial, 3", "acne inversa, familial, type 3", "familial acne inversa caused by mutation in PSEN1"], "xref": ["MEDGEN:462388", "OMIM:613737", "UMLS:C3151038"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the iCYP11A1/i gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.", "id": "MONDO:0013400", "name": "Congenital adrenal insufficiency with 46, xy sex reversal or 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XY sex reversal-adrenal failure", "XY sex reversal-adrenal failure syndrome", "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete", "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "cholesterol side-chain cleavage deficiency", "p450scc deficiency"], "xref": ["DOID:0050546", "GARD:0017033", "MEDGEN:462405", "MESH:C566130", "NCIT:C131422", "OMIM:613743", "Orphanet:168558", "UMLS:C3151055"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.", "id": "MONDO:0013401", "name": "Hereditary spastic paraplegia 51", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP4E1 hereditary spastic paraplegia", "SPG51", "Spastic Paraplegia 51", "hereditary spastic paraplegia caused by mutation in AP4E1", "hereditary spastic paraplegia type 51"], "xref": ["DOID:0110803", "GARD:0013737", "MEDGEN:462406", "NORD:1990", "OMIM:613744", "UMLS:C3151056"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.", "id": "MONDO:0013402", "name": "Retinitis pigmentosa 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NRL retinitis pigmentosa", "RP27", "retinitis pigmentosa 27", "retinitis pigmentosa caused by mutation in NRL", "retinitis pigmentosa type 27"], "xref": ["DOID:0110397", "GARD:0015700", "MEDGEN:320323", "MESH:C563526", "OMIM:613750", "UMLS:C1834329"]}
{"category": ["biolink:Disease"], "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.", "id": "MONDO:0013403", "name": "Heterotaxy, visceral, 4, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACVR2B visceral heterotaxy", "heterotaxy, visceral, 4, autosomal", "visceral heterotaxy caused by mutation in ACVR2B"], "xref": ["DOID:0051019", "GARD:0024918", "MEDGEN:462407", "OMIM:613751", "UMLS:C3151057"]}
{"category": ["biolink:Disease"], "description": "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.", "id": "MONDO:0013404", "name": "Hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"], "xref": ["DOID:0111039", "GARD:0013177", "MEDGEN:462408", "OMIM:613752", "Orphanet:88618", "SCTID:724039002", "UMLS:C3151058"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.", "id": "MONDO:0013405", "name": "Retinitis pigmentosa 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CNGA1 retinitis pigmentosa", "RP49", "retinitis pigmentosa 49", "retinitis pigmentosa caused by mutation in CNGA1", "retinitis pigmentosa type 49"], "xref": ["DOID:0110377", "GARD:0015701", "MEDGEN:462409", "OMIM:613756", "UMLS:C3151059"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.", "id": "MONDO:0013406", "name": "Age related macular degeneration 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARMD6", "RAX2 age-related macular degeneration", "age related macular degeneration type 6", "age-related macular degeneration caused by mutation in RAX2", "macular Degeneration, age-related, type 6"], "xref": ["DOID:0110018", "GARD:0024919", "MEDGEN:462410", "MESH:C563674", "OMIM:613757", "UMLS:C3151060"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.", "id": "MONDO:0013407", "name": "Retinitis pigmentosa 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP47", "SAG retinitis pigmentosa", "retinitis pigmentosa 47", "retinitis pigmentosa caused by mutation in SAG", "retinitis pigmentosa type 47"], "xref": ["DOID:0110369", "GARD:0015702", "MEDGEN:462411", "OMIM:613758", "UMLS:C3151061"]}
{"category": ["biolink:Disease"], "description": "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.", "id": "MONDO:0013408", "name": "Fadd-related immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FADD-related immunodeficiency", "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"], "xref": ["DOID:0061060", "GARD:0015004", "MEDGEN:462412", "NANDO:2200741", "OMIM:613759", "Orphanet:306550", "SCTID:723334006", "UMLS:C3151062", "icd11.foundation:440676168"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013410", "name": "46,xy sex reversal 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XY Sex reversal type 6", "46,XY sex reversal 6", "46XY sex reversal 6"], "xref": ["DOID:0111769", "GARD:0015703", "MEDGEN:462414", "OMIM:613762", "UMLS:C3151064"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.", "id": "MONDO:0013411", "name": "Cataract 16 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRYAB early-onset non-syndromic cataract", "CTRCT16", "early-onset non-syndromic cataract caused by mutation in CRYAB"], "xref": ["DOID:0110250", "GARD:0024920", "MEDGEN:814707", "MESH:C565134", "OMIM:613763", "UMLS:C3808377"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.", "id": "MONDO:0013412", "name": "Hypertrophic cardiomyopathy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH9", "TTN hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, 9", "cardiomyopathy, familial hypertrophic, type 9", "hypertrophic cardiomyopathy caused by mutation in TTN", "hypertrophic cardiomyopathy type 9"], "xref": ["DOID:0110315", "GARD:0024921", "MEDGEN:348780", "MESH:C566044", "OMIM:613765", "UMLS:C1861065"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.", "id": "MONDO:0013413", "name": "Retinitis pigmentosa 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CNGB1 retinitis pigmentosa", "RP45", "retinitis pigmentosa 45", "retinitis pigmentosa caused by mutation in CNGB1", "retinitis pigmentosa type 45"], "xref": ["DOID:0110402", "GARD:0015704", "MEDGEN:462416", "OMIM:613767", "UMLS:C3151066"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.", "id": "MONDO:0013414", "name": "Retinitis pigmentosa 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RGR retinitis pigmentosa", "RP44", "retinitis pigmentosa 44", "retinitis pigmentosa caused by mutation in RGR", "retinitis pigmentosa type 44"], "xref": ["DOID:0110394", "GARD:0015705", "MEDGEN:462418", "OMIM:613769", "UMLS:C3151068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013415", "name": "Chromosome 17p13.1 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 17p13.1 deletion syndrome"], "xref": ["DOID:0060402", "GARD:0024922", "MEDGEN:462419", "OMIM:613776", "UMLS:C3151069"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.", "id": "MONDO:0013416", "name": "Age related macular degeneration 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD8", "ARMS2 age-related macular degeneration", "age related macular degeneration type 8", "age-related macular degeneration caused by mutation in ARMS2", "macular Degeneration, age-related, type 8"], "xref": ["DOID:0110020", "GARD:0024923", "MEDGEN:462420", "OMIM:613778", "UMLS:C3151070"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.", "id": "MONDO:0013417", "name": "Complement component 3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C3 classic complement early component deficiency", "C3 deficiency", "classic complement early component deficiency caused by mutation in C3"], "xref": ["DOID:8354", "GARD:0016489", "MEDGEN:462421", "MESH:C565169", "NANDO:2200782", "NCIT:C9468", "OMIM:613779", "Orphanet:280133", "UMLS:C3151071"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013418", "name": "Aortic aneurysm, familial thoracic 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["aortic aneurysm, familial thoracic 7", "aortic aneurysm, familial thoracic type 7"], "xref": ["GARD:0015706", "MEDGEN:462427", "OMIM:613780", "UMLS:C3151077"]}
{"category": ["biolink:Disease"], "description": "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.", "id": "MONDO:0013419", "name": "Complement component c1s deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["complement component C1s deficiency"], "xref": ["GARD:0015707", "MEDGEN:462428", "MESH:C565170", "NANDO:2200779", "OMIM:613783", "UMLS:C3151078"]}
{"category": ["biolink:Disease"], "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.", "id": "MONDO:0013420", "name": "Age related macular degeneration 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD12", "CX3CR1 age-related macular degeneration", "age related macular degeneration type 12", "age-related macular degeneration caused by mutation in CX3CR1", "macular Degeneration, age-related, type 12"], "xref": ["DOID:0110024", "GARD:0024924", "MEDGEN:462429", "OMIM:613784", "UMLS:C3151079"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.", "id": "MONDO:0013421", "name": "Type ii complement component 8 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["C8 deficiency, type II", "C8B classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C8B"], "xref": ["DOID:0060302", "GARD:0010625", "HGNC:1353", "MEDGEN:462430", "OMIM:613789", "UMLS:C3151080"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.", "id": "MONDO:0013422", "name": "Type i complement component 8 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C8 deficiency, type I", "C8A classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C8A"], "xref": ["DOID:0060301", "GARD:0010626", "HGNC:1352", "MEDGEN:462431", "OMIM:613790", "UMLS:C3151081"]}
{"category": ["biolink:Disease"], "description": "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.", "id": "MONDO:0013423", "name": "Immunodeficiency due to masp-2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency due to MASP-2 deficiency"], "xref": ["GARD:0017512", "MEDGEN:462435", "MESH:C565360", "NANDO:2200793", "OMIM:613791", "Orphanet:331187", "UMLS:C3151085"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.", "id": "MONDO:0013424", "name": "3p- syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3p- syndrome", "Chromosome 3, Monosomy 3p", "chromosome 3pter-p25 deletion syndrome", "distal 3p deletion", "distal monosomy 3p", "distal monosomy type 3p", "monosomy 3pter", "telomeric monosomy 3p"], "xref": ["DOID:0060417", "GARD:0003750", "MEDGEN:1643555", "MESH:C536804", "NCIT:C41377", "NORD:951", "OMIM:613792", "Orphanet:1620", "SCTID:763528002", "UMLS:C4706503"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.", "id": "MONDO:0013425", "name": "Retinitis pigmentosa 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP20", "RPE65 retinitis pigmentosa", "retinitis pigmentosa 20", "retinitis pigmentosa caused by mutation in RPE65", "retinitis pigmentosa type 20"], "xref": ["DOID:0110353", "GARD:0010404", "HGNC:10294", "MEDGEN:462436", "MESH:C566718", "OMIM:613794", "UMLS:C3151086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013426", "name": "Aneurysm-osteoarthritis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Loeys-Dietz syndrome type 3", "aneurysm-osteoarthritis syndrome"], "xref": ["DOID:0070237", "GARD:0010997", "MEDGEN:462437", "OMIM:613795", "Orphanet:284984", "UMLS:C3151087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013427", "name": "Immunodeficiency 31b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["STAT1 deficiency", "immunodeficiency 31B", "immunodeficiency type 31B"], "xref": ["DOID:0111944", "GARD:0017612", "MEDGEN:462438", "OMIM:613796", "Orphanet:391311", "UMLS:C3151088"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.", "id": "MONDO:0013428", "name": "Meier-gorlin syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Meier-Gorlin syndrome 2", "Meier-Gorlin syndrome caused by mutation in ORC4", "Meier-Gorlin syndrome type 2", "ORC4 Meier-Gorlin syndrome"], "xref": ["DOID:0080513", "GARD:0015708", "MEDGEN:462447", "OMIM:613800", "UMLS:C3151097"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.", "id": "MONDO:0013429", "name": "Retinitis pigmentosa 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE6B retinitis pigmentosa", "RP40", "retinitis pigmentosa 40", "retinitis pigmentosa caused by mutation in PDE6B", "retinitis pigmentosa type 40", "retinitis pigmentosa-40"], "xref": ["DOID:0110375", "GARD:0015709", "MEDGEN:462457", "OMIM:613801", "UMLS:C3151107"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.", "id": "MONDO:0013430", "name": "Meier-gorlin syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Meier-Gorlin syndrome 3", "Meier-Gorlin syndrome caused by mutation in ORC6", "Meier-Gorlin syndrome type 3", "ORC6 Meier-Gorlin syndrome"], "xref": ["DOID:0080514", "GARD:0015710", "MEDGEN:462463", "OMIM:613803", "UMLS:C3151113"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.", "id": "MONDO:0013431", "name": "Meier-gorlin syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDT1 Meier-Gorlin syndrome", "Meier-Gorlin syndrome 4", "Meier-Gorlin syndrome caused by mutation in CDT1", "Meier-Gorlin syndrome type 4"], "xref": ["DOID:0080515", "GARD:0015711", "MEDGEN:462470", "OMIM:613804", "UMLS:C3151120"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.", "id": "MONDO:0013432", "name": "Meier-gorlin syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDC6 Meier-Gorlin syndrome", "Meier-Gorlin syndrome 5", "Meier-Gorlin syndrome caused by mutation in CDC6", "Meier-Gorlin syndrome type 5"], "xref": ["DOID:0080516", "GARD:0015712", "MEDGEN:462476", "OMIM:613805", "UMLS:C3151126"]}
{"category": ["biolink:Disease"], "description": "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.", "id": "MONDO:0013433", "name": "Primary sclerosing cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PSC"], "xref": ["DOID:0060643", "GARD:0001280", "ICD10CM:K83.01", "MEDGEN:107565", "MedDRA:10036732", "NANDO:1200440", "NANDO:2100265", "NCIT:C4828", "NORD:1613", "OMIM:613806", "Orphanet:171", "SCTID:197441003", "UMLS:C0566602", "icd11.foundation:857962451"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.", "id": "MONDO:0013434", "name": "Primary ciliary dyskinesia 14", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC39 primary ciliary dyskinesia", "CILD14", "ciliary dyskinesia, primary, type 14", "primary ciliary dyskinesia 14", "primary ciliary dyskinesia caused by mutation in CCDC39", "primary ciliary dyskinesia type 14"], "xref": ["DOID:0110598", "GARD:0015713", "MEDGEN:462486", "NCIT:C148370", "OMIM:613807", "UMLS:C3151136"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.", "id": "MONDO:0013435", "name": "Primary ciliary dyskinesia 15", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC40 primary ciliary dyskinesia", "CILD15", "ciliary dyskinesia, primary, type 15", "primary ciliary dyskinesia 15", "primary ciliary dyskinesia caused by mutation in CCDC40", "primary ciliary dyskinesia type 15"], "xref": ["DOID:0110623", "GARD:0015714", "MEDGEN:462487", "NCIT:C155999", "OMIM:613808", "UMLS:C3151137"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.", "id": "MONDO:0013436", "name": "Retinitis pigmentosa 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP39", "USH2A retinitis pigmentosa", "retinitis pigmentosa 39", "retinitis pigmentosa caused by mutation in USH2A", "retinitis pigmentosa type 39"], "xref": ["DOID:0110360", "GARD:0015715", "MEDGEN:462488", "OMIM:613809", "UMLS:C3151138"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.", "id": "MONDO:0013437", "name": "Retinitis pigmentosa 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE6A retinitis pigmentosa", "RP43", "retinitis pigmentosa 43", "retinitis pigmentosa caused by mutation in PDE6A", "retinitis pigmentosa type 43"], "xref": ["DOID:0110379", "GARD:0015716", "MEDGEN:462489", "OMIM:613810", "UMLS:C3151139"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.", "id": "MONDO:0013438", "name": "Pontocerebellar hypoplasia type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SEPSECS non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS", "pontocerebellar hypoplasia type 2D"], "xref": ["DOID:0060270", "GARD:0015717", "MEDGEN:462490", "OMIM:613811", "UMLS:C3151140"]}
{"category": ["biolink:Disease"], "description": "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.", "id": "MONDO:0013439", "name": "Congenital bile acid synthesis defect 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BASD3", "CBAS3", "CYP7B1 congenital bile acid synthesis defect", "bile acid synthesis defect, congenital, type 3", "congenital bile acid synthesis defect caused by mutation in CYP7B1", "congenital bile acid synthesis defect type 3", "oxysterol 7-alpha-hydroxylase deficiency"], "xref": ["DOID:0111070", "GARD:0016713", "MEDGEN:462497", "MESH:C566340", "OMIM:613812", "Orphanet:79302", "SCTID:719454003", "UMLS:C3151147"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.", "id": "MONDO:0013440", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2p", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DAG1 autosomal recessive limb-girdle muscular dystrophy", "LGMD2P", "MDDGC9", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1"], "xref": ["DOID:0110293", "GARD:0012541", "MEDGEN:1386785", "OMIM:613818", "Orphanet:280333", "UMLS:C4511963"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.", "id": "MONDO:0013441", "name": "Asphyxiating thoracic dystrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATD4", "SRTD4", "asphyxiating thoracic dystrophy 4", "asphyxiating thoracic dystrophy type 4", "short-rib thoracic dysplasia 4 with or without polydactyly"], "xref": ["DOID:0110088", "GARD:0015718", "MEDGEN:462535", "OMIM:613819", "UMLS:C3151185"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.", "id": "MONDO:0013442", "name": "Nephronophthisis 12", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP12", "TTC21B nephronophthisis (disease)", "nephronophthisis (disease) caused by mutation in TTC21B", "nephronophthisis 12", "nephronophthisis type 12"], "xref": ["DOID:0111119", "GARD:0024925", "MEDGEN:462536", "OMIM:613820", "UMLS:C3151186"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.", "id": "MONDO:0013443", "name": "Seckel syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP152 Seckel syndrome", "SCKL5", "Seckel syndrome 5", "Seckel syndrome caused by mutation in CEP152", "Seckel syndrome type 5"], "xref": ["DOID:0070012", "GARD:0015719", "MEDGEN:462537", "OMIM:613823", "UMLS:C3151187"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.", "id": "MONDO:0013444", "name": "Nephronophthisis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NEK8 nephronophthisis (disease)", "NPHP9", "nephronophthisis (disease) caused by mutation in NEK8", "nephronophthisis 9", "nephronophthisis type 9"], "xref": ["DOID:0111120", "GARD:0024926", "MEDGEN:462538", "OMIM:613824", "UMLS:C3151188"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.", "id": "MONDO:0013445", "name": "Complement component 9 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C9 classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C9", "complement component 9 deficiency"], "xref": ["DOID:0060303", "GARD:0018292", "MEDGEN:462539", "MESH:C565165", "NANDO:2200787", "OMIM:613825", "UMLS:C3151189"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.", "id": "MONDO:0013446", "name": "Leber congenital amaurosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA6", "Leber congenital amaurosis 6", "Leber congenital amaurosis caused by mutation in RPGRIP1", "Leber congenital amaurosis type 6", "RPGRIP1 Leber congenital amaurosis"], "xref": ["DOID:0110329", "GARD:0010490", "HGNC:13436", "MEDGEN:344245", "MESH:C565327", "OMIM:613826", "UMLS:C1854260"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.", "id": "MONDO:0013447", "name": "Retinitis pigmentosa 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GUCA1B retinitis pigmentosa", "RP48", "retinitis pigmentosa 48", "retinitis pigmentosa caused by mutation in GUCA1B", "retinitis pigmentosa type 48"], "xref": ["DOID:0110382", "GARD:0015720", "MEDGEN:462540", "OMIM:613827", "UMLS:C3151190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013448", "name": "Generalized epilepsy with febrile seizures plus, type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFSP8", "generalized epilepsy with febrile seizures plus, type 8"], "xref": ["DOID:0111299", "GARD:0018664", "MEDGEN:462541", "OMIM:613828", "UMLS:C3151191"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.", "id": "MONDO:0013449", "name": "Leber congenital amaurosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRX Leber congenital amaurosis", "LCA7", "Leber congenital amaurosis 7", "Leber congenital amaurosis caused by mutation in CRX", "Leber congenital amaurosis type 7"], "xref": ["DOID:0110333", "GARD:0010880", "MEDGEN:462542", "OMIM:613829", "UMLS:C3151192"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.", "id": "MONDO:0013450", "name": "Congenital stationary night blindness 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1D", "SLC24A1 congenital stationary night blindness", "congenital stationary night blindness 1D", "congenital stationary night blindness caused by mutation in SLC24A1", "congenital stationary night blindness type 1D", "night blindness, congenital stationary (complete), 1D, autosomal recessive"], "xref": ["DOID:0110868", "GARD:0015721", "MEDGEN:462543", "OMIM:613830", "UMLS:C3151193"]}
{"category": ["biolink:Disease"], "description": "A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease.", "id": "MONDO:0013452", "name": "Multisystemic smooth muscle dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACTA2-related smooth muscle dysfunction syndrome", "multisystemic smooth muscle dysfunction syndrome"], "xref": ["GARD:0012811", "MEDGEN:462551", "OMIM:613834", "Orphanet:404463", "UMLS:C3151201"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.", "id": "MONDO:0013453", "name": "Leber congenital amaurosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRB1 Leber congenital amaurosis", "LCA8", "Leber congenital amaurosis 8", "Leber congenital amaurosis caused by mutation in CRB1", "Leber congenital amaurosis type 8"], "xref": ["DOID:0110079", "GARD:0010881", "MEDGEN:462552", "OMIM:613835", "UMLS:C3151202"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.", "id": "MONDO:0013454", "name": "Leber congenital amaurosis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPDH1 Leber congenital amaurosis", "LCA11", "Leber congenital amaurosis 11", "Leber congenital amaurosis caused by mutation in IMPDH1", "Leber congenital amaurosis type 11"], "xref": ["DOID:0110216", "GARD:0010488", "HGNC:6052", "MEDGEN:326698", "MESH:C564140", "OMIM:613837", "UMLS:C1840284"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.", "id": "MONDO:0013455", "name": "Hypertrophic cardiomyopathy 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH16", "MYOZ2 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 16", "cardiomyopathy, hypertrophic, 16", "hypertrophic cardiomyopathy caused by mutation in MYOZ2", "hypertrophic cardiomyopathy type 16"], "xref": ["DOID:0110322", "GARD:0024927", "MEDGEN:462554", "OMIM:613838", "UMLS:C3151204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013456", "name": "Constitutional megaloblastic anemia with severe neurologic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DHFR deficiency", "dihydrofolate reductase deficiency"], "xref": ["GARD:0011000", "MEDGEN:462555", "MESH:C565095", "OMIM:613839", "Orphanet:319651", "SCTID:124178006", "UMLS:C3151205"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.", "id": "MONDO:0013457", "name": "Leber congenital amaurosis 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA15", "Leber congenital amaurosis 15", "Leber congenital amaurosis caused by mutation in TULP1", "Leber congenital amaurosis type 15", "TULP1 Leber congenital amaurosis"], "xref": ["DOID:0110189", "GARD:0010884", "MEDGEN:462556", "OMIM:613843", "UMLS:C3151206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013458", "name": "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HUPRA syndrome", "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"], "xref": ["GARD:0017569", "MEDGEN:462559", "OMIM:613845", "Orphanet:363694", "UMLS:C3151209"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.", "id": "MONDO:0013459", "name": "Osteogenesis imperfecta type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI10", "SERPINH1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SERPINH1"], "xref": ["DOID:0110346", "GARD:0012874", "MEDGEN:462561", "OMIM:613848", "UMLS:C3151211"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.", "id": "MONDO:0013460", "name": "Osteogenesis imperfecta type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI12", "SP7 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SP7"], "xref": ["DOID:0110348", "GARD:0015722", "MEDGEN:462783", "OMIM:613849", "UMLS:C3151433"]}
{"category": ["biolink:Disease"], "description": "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.", "id": "MONDO:0013461", "name": "Inosine triphosphatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["inosine triphosphatase deficiency"], "xref": ["GARD:0027847", "ICD9:277.2", "MEDGEN:452450", "MESH:C564127", "NCIT:C129974", "OMIM:613850", "Orphanet:319684", "SCTID:238011005", "UMLS:C0342800"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013462", "name": "Fucosyltransferase 6 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fucosyltransferase 6 deficiency"], "xref": ["MEDGEN:462569", "OMIM:613852", "UMLS:C3151219"]}
{"category": ["biolink:Disease"], "description": "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.", "id": "MONDO:0013463", "name": "Congenital heart defects, multiple types, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DTGA3", "GDF1 dextro-looped transposition of the great arteries", "congenital heart defects, multiple types, 6", "dextro-looped transposition of the great arteries caused by mutation in GDF1", "dextro-looped transposition of the great arteries type 3", "transposition of the great arteries, dextro-looped type 3"], "xref": ["DOID:0060772", "GARD:0024928", "MEDGEN:462571", "OMIM:613854", "UMLS:C3151221"]}
{"category": ["biolink:Disease"], "description": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.", "id": "MONDO:0013464", "name": "Episodic ataxia type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CACNB4 hereditary episodic ataxia", "hereditary episodic ataxia caused by mutation in CACNB4"], "xref": ["DOID:0050993", "GARD:0017113", "MEDGEN:356142", "MESH:C566601", "OMIM:613855", "Orphanet:211067", "SCTID:718756005", "UMLS:C1866039"]}
{"category": ["biolink:Disease"], "description": "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.", "id": "MONDO:0013465", "name": "Achromatopsia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACHM4", "GNAT2 achromatopsia", "achromatopsia 4", "achromatopsia caused by mutation in GNAT2", "achromatopsia type 4"], "xref": ["DOID:0110010", "GARD:0015723", "MEDGEN:330669", "MESH:C564206", "OMIM:613856", "UMLS:C1841721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013466", "name": "Orofacial cleft 13", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OFC13", "orofacial cleft 13"], "xref": ["DOID:0080406", "MEDGEN:462572", "OMIM:613857", "UMLS:C3151222"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013467", "name": "Immunodeficiency due to ficolin3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017513", "MEDGEN:462576", "NANDO:2200794", "OMIM:613860", "Orphanet:331190", "SCTID:766705006", "UMLS:C3151226"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.", "id": "MONDO:0013468", "name": "Retinitis pigmentosa 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DHDDS retinitis pigmentosa", "RP59", "congenital disorder of glycosylation, type 1bb", "retinitis pigmentosa 59", "retinitis pigmentosa caused by mutation in DHDDS", "retinitis pigmentosa type 59"], "xref": ["DOID:0110352", "GARD:0015724", "MEDGEN:462577", "OMIM:613861", "UMLS:C3151227"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.", "id": "MONDO:0013469", "name": "Retinitis pigmentosa 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MERTK retinitis pigmentosa", "RP38", "retinitis pigmentosa 38", "retinitis pigmentosa caused by mutation in MERTK", "retinitis pigmentosa type 38"], "xref": ["DOID:0110367", "GARD:0015725", "MEDGEN:462578", "OMIM:613862", "UMLS:C3151228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013470", "name": "Generalized epilepsy with febrile seizures plus, type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFSP7", "Gefs+, type 7", "generalized epilepsy with febrile seizures plus, type 7"], "xref": ["DOID:0111295", "GARD:0018665", "MEDGEN:416630", "MESH:C567827", "OMIM:613863", "UMLS:C2751778"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.", "id": "MONDO:0013471", "name": "Autosomal recessive nonsyndromic hearing loss 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110513", "GARD:0022639", "MEDGEN:462580", "OMIM:613865", "UMLS:C3151230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013472", "name": "Fatal infantile hypertonic myofibrillar myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fatal infantile hypertonic myofibrillar myopathy"], "xref": ["DOID:0080309", "GARD:0017296", "MEDGEN:1684001", "OMIM:613869", "Orphanet:280553", "UMLS:C5190691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013473", "name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Hirschsprung disease, cardiac defects, and autonomic dysfunction"], "xref": ["MEDGEN:462587", "MESH:C563939", "OMIM:613870", "UMLS:C3151237"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.", "id": "MONDO:0013474", "name": "Hypertrophic cardiomyopathy 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH17", "JPH2 hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 17", "cardiomyopathy, hypertrophic, 17", "hypertrophic cardiomyopathy caused by mutation in JPH2", "hypertrophic cardiomyopathy type 17"], "xref": ["DOID:0110323", "GARD:0024929", "MEDGEN:462614", "OMIM:613873", "UMLS:C3151264"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.", "id": "MONDO:0013475", "name": "Hypertrophic cardiomyopathy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH18", "PLN hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 18", "cardiomyopathy, hypertrophic, 18", "hypertrophic cardiomyopathy caused by mutation in PLN", "hypertrophic cardiomyopathy type 18"], "xref": ["DOID:0110324", "GARD:0024930", "MEDGEN:462615", "OMIM:613874", "UMLS:C3151265"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.", "id": "MONDO:0013476", "name": "Hypertrophic cardiomyopathy 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CALR3 hypertrophic cardiomyopathy", "CMH19", "cardiomyopathy familial hypertrophic 19", "cardiomyopathy, familial hypertrophic, type 19", "hypertrophic cardiomyopathy caused by mutation in CALR3", "hypertrophic cardiomyopathy type 19"], "xref": ["DOID:0110325", "GARD:0024931", "OMIM:613875"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.", "id": "MONDO:0013477", "name": "Hypertrophic cardiomyopathy 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH20", "NEXN hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 20", "cardiomyopathy, hypertrophic, 20", "hypertrophic cardiomyopathy caused by mutation in NEXN", "hypertrophic cardiomyopathy type 20"], "xref": ["DOID:0110326", "GARD:0024932", "MEDGEN:462617", "OMIM:613876", "UMLS:C3151267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013478", "name": "Plin1-related familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPLD4", "PLIN1-related FPLD"], "xref": ["DOID:0070205", "GARD:0012601", "MEDGEN:1675945", "OMIM:613877", "Orphanet:280356", "UMLS:C5191005"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.", "id": "MONDO:0013479", "name": "Dilated cardiomyopathy 1hh", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BAG3 familial isolated dilated cardiomyopathy", "CMD1HH", "cardiomyopathy, dilated, type 1Hh", "dilated cardiomyopathy type 1HH", "familial isolated dilated cardiomyopathy caused by mutation in BAG3"], "xref": ["DOID:0110448", "GARD:0015726", "MEDGEN:462643", "OMIM:613881", "UMLS:C3151293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013480", "name": "Renal hypomagnesemia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HOMG6", "renal hypomagnesemia type 6"], "xref": ["DOID:0060884", "GARD:0012155", "MEDGEN:462645", "OMIM:613882", "UMLS:C3151295"]}
{"category": ["biolink:Disease"], "description": "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.", "id": "MONDO:0013481", "name": "Chromosome 13q14 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(13)(q14)", "chromosome 13q14 deletion syndrome", "chromosome 13q14 deletion syndrome, isolated cases", "del(13q14)", "deletion 13q14", "monosomy type 13q14"], "xref": ["DOID:0060391", "GARD:0016570", "MEDGEN:462652", "MESH:C535484", "NCIT:C36421", "OMIM:613884", "Orphanet:1587", "UMLS:C3151302"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.", "id": "MONDO:0013482", "name": "Meckel syndrome, type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MKS8", "Meckel syndrome caused by mutation in TCTN2", "Meckel syndrome, type 8", "TCTN2 Meckel syndrome"], "xref": ["DOID:0070122", "GARD:0015727", "MEDGEN:854220", "OMIM:613885", "UMLS:C3836857"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013483", "name": "Obesity, hyperphagia, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["obesity, hyperphagia, and developmental delay"], "xref": ["MEDGEN:462653", "MESH:C563938", "OMIM:613886", "UMLS:C3151303"]}
{"category": ["biolink:Disease"], "description": "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.", "id": "MONDO:0013484", "name": "Cataract 36", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CATC4", "CTRCT36", "TDRD7 cataract (disease)", "cataract (disease) caused by mutation in TDRD7", "cataract 36", "cataract type 36"], "xref": ["DOID:0110247", "MEDGEN:462654", "OMIM:613887", "UMLS:C3151304"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.", "id": "MONDO:0013485", "name": "Spinocerebellar ataxia type 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA35", "spinocerebellar ataxia type 35"], "xref": ["DOID:0050982", "GARD:0012366", "MEDGEN:854733", "OMIM:613908", "Orphanet:276193", "SCTID:719300001", "UMLS:C3888031", "icd11.foundation:1674449075"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.", "id": "MONDO:0013486", "name": "Spinocerebellar ataxia type 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA32", "cerebellar ataxia with azoospermia and intellectual disability"], "xref": ["GARD:0017276", "MEDGEN:462693", "OMIM:613909", "Orphanet:276183", "SCTID:719254001", "UMLS:C3151343", "icd11.foundation:1372046516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013487", "name": "Recurrent neisseria infections due to factor d deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["recurrent Neisseria infections due to factor D deficiency"], "xref": ["GARD:0017055", "ICD9:279.8", "MEDGEN:97989", "MESH:C565027", "NANDO:2200788", "OMIM:613912", "Orphanet:169467", "SCTID:234607008", "UMLS:C0398764", "icd11.foundation:528757185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013488", "name": "Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["APLDC3"], "xref": ["MEDGEN:462697", "OMIM:613913", "UMLS:C3151347"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.", "id": "MONDO:0013489", "name": "Autosomal recessive nonsyndromic hearing loss 89", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 89"], "xref": ["DOID:0110534", "GARD:0022640", "MEDGEN:462701", "OMIM:613916", "UMLS:C3151351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013490", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["megalencephalic leukoencephalopathy with subcortical cysts 2A", "megalencephalic leukoencephalopathy with subcortical cysts type 2A"], "xref": ["DOID:0080318", "GARD:0015728", "MEDGEN:462705", "OMIM:613925", "UMLS:C3151355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013491", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability", "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation"], "xref": ["DOID:0080317", "GARD:0015729", "MEDGEN:462706", "OMIM:613926", "UMLS:C3151356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013492", "name": "Alopecia-intellectual disability syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["APMR3", "alopecia-intellectual disability syndrome 3"], "xref": ["DOID:0080951", "GARD:0015730", "MEDGEN:462712", "OMIM:613930", "UMLS:C3151362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013493", "name": "Acetyl-coa carboxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ACACAD"], "xref": ["MEDGEN:124338", "MESH:C562678", "OMIM:613933", "UMLS:C0268603"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.", "id": "MONDO:0013495", "name": "Autosomal recessive congenital ichthyosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI8", "autosomal recessive congenital ichthyosis type 8", "ichthyosis, congenital, autosomal recessive type 8"], "xref": ["DOID:0060717", "GARD:0016457", "MEDGEN:765943", "OMIM:613943", "UMLS:C3553029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013497", "name": "Okt4 epitope deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Okt4 epitope deficiency"], "xref": ["MEDGEN:462729", "OMIM:613949", "UMLS:C3151379"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.", "id": "MONDO:0013498", "name": "Schizophrenia 15", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["SCZD15", "schizophrenia 15", "schizophrenia type 15"], "xref": ["DOID:0070091", "MEDGEN:462730", "OMIM:613950", "UMLS:C3151380"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", "id": "MONDO:0013499", "name": "Fanconi anemia complementation group p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FANCP", "Fanconi Anemia, complementation group type P", "Fanconi anaemia caused by mutation in SLX4", "Fanconi anaemia caused by mutation in Slx4", "Fanconi anaemia complementation group type P", "Fanconi anemia caused by mutation in SLX4", "Fanconi anemia caused by mutation in Slx4", "Fanconi anemia complementation group type P", "SLX4 Fanconi anaemia", "SLX4 Fanconi anemia", "Slx4 Fanconi anaemia", "Slx4 Fanconi anemia"], "xref": ["DOID:0111092", "GARD:0015731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013500", "name": "Immunodeficiency 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 51"], "xref": ["DOID:0111996", "GARD:0015732", "MEDGEN:934770", "OMIM:613953", "UMLS:C4310803"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.", "id": "MONDO:0013501", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VCP amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis caused by mutation in VCP"], "xref": ["DOID:0060205", "GARD:0015733", "MEDGEN:1759760", "OMIM:613954", "UMLS:C5436279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013502", "name": "Amyloidosis, primary localized cutaneous, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["amyloidosis, primary localised cutaneous, type 2", "amyloidosis, primary localized cutaneous, 2", "amyloidosis, primary localized cutaneous, type 2"], "xref": ["DOID:0080931", "GARD:0018638", "MEDGEN:462754", "OMIM:613955", "UMLS:C3151404"]}
{"category": ["biolink:Disease"], "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.", "id": "MONDO:0013503", "name": "Candidiasis, familial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IL17F familial chronic mucocutaneous candidiasis", "candidiasis, familial, 6", "candidiasis, familial, 6, autosomal dominant", "candidiasis, familial, type 6", "familial chronic mucocutaneous candidiasis caused by mutation in IL17F"], "xref": ["GARD:0015093", "MEDGEN:462755", "OMIM:613956", "UMLS:C3151405"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.", "id": "MONDO:0013504", "name": "Spermatogenic failure 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NR5A1 azoospermia", "azoospermia caused by mutation in NR5A1", "spermatogenic failure 8", "spermatogenic failure type 8"], "xref": ["DOID:0070169", "GARD:0015734", "MEDGEN:462756", "OMIM:613957", "UMLS:C3151406"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.", "id": "MONDO:0013505", "name": "Spermatogenic failure 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DPY19L2 azoospermia", "azoospermia caused by mutation in DPY19L2", "spermatogenic failure 9", "spermatogenic failure type 9"], "xref": ["DOID:0070175", "DOID:0111156", "GARD:0015735", "MEDGEN:462757", "OMIM:613958", "UMLS:C3151407"]}
{"category": ["biolink:Disease"], "description": "A schizophrenia that has material basis in a mutation on chromosome 7q36.3.", "id": "MONDO:0013506", "name": "Schizophrenia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCZD16", "schizophrenia 16", "schizophrenia type 16"], "xref": ["DOID:0070092", "MEDGEN:462758", "OMIM:613959", "UMLS:C3151408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013507", "name": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chronic granulomatous disease 3, autosomal recessive", "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3"], "xref": ["DOID:0070194", "GARD:0015736", "MEDGEN:462759", "NANDO:2201283", "OMIM:613960", "UMLS:C3151409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013508", "name": "Myopia 19, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP19", "myopia 19, autosomal dominant"], "xref": ["MEDGEN:462760", "OMIM:613969", "UMLS:C3151410"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.", "id": "MONDO:0013509", "name": "Intellectual disability, autosomal dominant 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GRIN2B autosomal dominant non-syndromic intellectual disability", "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder", "MRD6", "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B", "intellectual developmental disorder, autosomal dominant 6, with or without seizures", "intellectual disability, autosomal dominant 6", "intellectual disability, autosomal dominant type 6", "mental retardation, autosomal dominant type 6"], "xref": ["DOID:0070036", "GARD:0012851", "MEDGEN:462761", "OMIM:613970", "Orphanet:589547", "UMLS:C3151411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013510", "name": "Melanoma, cutaneous malignant, susceptibility to, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["melanoma, cutaneous malignant, 6", "melanoma, cutaneous malignant, susceptibility to, 6", "melanoma, cutaneous malignant, susceptibility to, type 6"], "xref": ["GARD:0027848", "MEDGEN:462767", "OMIM:613972", "UMLS:C3151417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013511", "name": "Cyanosis, transient neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cyanosis, transient neonatal"], "xref": ["MEDGEN:462771", "OMIM:613977", "UMLS:C3151421"]}
{"category": ["biolink:Disease"], "description": "Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).", "id": "MONDO:0013512", "name": "Hemoglobin h disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-thalassemia intermedia", "HBA1", "HBA2", "HBA2 digenic triallelic hemoglobin H disease", "HBH", "HbH", "HbH disease", "alpha-thalassemia intermedia", "haemoglobin H disease, deletional and nondeletional", "hemoglobin H disease", "hemoglobin H disease caused by triallelic variation in HBA1", "hemoglobin H disease related to triallelic variation in HBA1 and HBA2", "hemoglobin H disease, deletional", "hemoglobin H disease, deletional and nondeletional"], "xref": ["DOID:0110031", "GARD:0016829", "ICD9:282.49", "MEDGEN:468531", "MedDRA:10063435", "NCIT:C95504", "OMIM:613978", "Orphanet:93616", "SCTID:48553001", "UMLS:C3161174", "icd11.foundation:9436211"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.", "id": "MONDO:0013513", "name": "Atrial fibrillation, familial, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNJ2 familial atrial fibrillation", "atrial fibrillation, familial, 9", "atrial fibrillation, familial, type 9", "familial atrial fibrillation caused by mutation in KCNJ2"], "xref": ["GARD:0015737", "MEDGEN:462781", "OMIM:613980", "UMLS:C3151431"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.", "id": "MONDO:0013514", "name": "Hypotrichosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HTSS2", "HYPT3", "Htss2", "KRT74 hypotrichosis", "hypotrichosis 3", "hypotrichosis caused by mutation in KRT74", "hypotrichosis simplex of the scalp 2", "hypotrichosis type 3", "hypt3"], "xref": ["DOID:0110700", "GARD:0018094", "MEDGEN:462782", "OMIM:613981", "UMLS:C3151432"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.", "id": "MONDO:0013515", "name": "Osteogenesis imperfecta type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI6", "SERPINF1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SERPINF1"], "xref": ["DOID:0110350", "GARD:0008700", "MEDGEN:481194", "MESH:C536047", "OMIM:613982", "UMLS:C3279564"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.", "id": "MONDO:0013516", "name": "Retinitis pigmentosa 60", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPF6 retinitis pigmentosa", "RP60", "retinitis pigmentosa 60", "retinitis pigmentosa caused by mutation in PRPF6", "retinitis pigmentosa type 60"], "xref": ["DOID:0110411", "GARD:0015738", "MEDGEN:462784", "OMIM:613983", "UMLS:C3151434"]}
{"category": ["biolink:Disease"], "description": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.", "id": "MONDO:0013517", "name": "Beta-thalassemia hbb/lcrb", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["thalassemia, beta", "thalassemia, hispanic gamma-delta-beta"], "xref": ["GARD:0024933", "OMIM:613985", "SCDO:0000251"]}
{"category": ["biolink:Disease"], "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.", "id": "MONDO:0013518", "name": "Pituitary hormone deficiency, combined, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OTX2 combined pituitary hormone deficiencies, genetic form", "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2", "pituitary hormone deficiency, combined, 6", "pituitary hormone deficiency, combined, type 6"], "xref": ["DOID:0061022", "GARD:0016520", "MEDGEN:462790", "OMIM:613986", "UMLS:C3151440"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.", "id": "MONDO:0013519", "name": "Dyskeratosis congenita, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB2", "dyskeratosis congenita, autosomal recessive 2", "dyskeratosis congenita, autosomal recessive type 2"], "xref": ["DOID:0070017", "GARD:0015739", "MEDGEN:462791", "NCIT:C176926", "OMIM:613987", "UMLS:C3151441"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.", "id": "MONDO:0013520", "name": "Dyskeratosis congenita, autosomal recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB3", "dyskeratosis congenita, autosomal recessive 3", "dyskeratosis congenita, autosomal recessive type 3"], "xref": ["DOID:0070019", "GARD:0015740", "MEDGEN:462792", "NCIT:C176927", "OMIM:613988", "UMLS:C3151442"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.", "id": "MONDO:0013521", "name": "Dyskeratosis congenita, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCA2", "dyskeratosis congenita, autosomal dominant 2", "dyskeratosis congenita, autosomal dominant type 2"], "xref": ["DOID:0070016", "GARD:0015741", "MEDGEN:462793", "NCIT:C176922", "OMIM:613989", "UMLS:C3151443"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.", "id": "MONDO:0013522", "name": "Dyskeratosis congenita, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCA3", "dyskeratosis congenita, autosomal dominant 3", "dyskeratosis congenita, autosomal dominant type 3"], "xref": ["DOID:0070018", "GARD:0015742", "MEDGEN:462795", "NCIT:C176923", "OMIM:613990", "UMLS:C3151445"]}
{"category": ["biolink:Disease"], "description": "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life.", "id": "MONDO:0013523", "name": "Nestor-guillermo progeria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BANF1-related neurodevelopmental syndrome", "NGPS", "Nestor-Guillermo progeria syndrome"], "xref": ["DOID:0081334", "GARD:0011008", "MEDGEN:462796", "OMIM:614008", "Orphanet:280576", "UMLS:C3151446"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.", "id": "MONDO:0013525", "name": "Primary ciliary dyskinesia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD16", "DNAL1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 16", "primary ciliary dyskinesia caused by mutation in DNAL1", "primary ciliary dyskinesia type 16"], "xref": ["DOID:0110613", "GARD:0015743", "MEDGEN:462810", "OMIM:614017", "UMLS:C3151460"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.", "id": "MONDO:0013526", "name": "Progressive myoclonic epilepsy type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPM6", "GOSR2 progressive myoclonic epilepsy", "GOSR2-related progressive myoclonus ataxia", "North Sea progressive myoclonus epilepsy", "PME type 6", "epilepsy, progressive myoclonic 6", "epilepsy, progressive myoclonic, type 6", "progressive myoclonic epilepsy caused by mutation in GOSR2", "progressive myoclonus epilepsy type 6"], "xref": ["DOID:0111449", "GARD:0003872", "MEDGEN:1681379", "OMIM:614018", "Orphanet:280620", "UMLS:C5190805", "icd11.foundation:878291417"]}
{"category": ["biolink:Disease"], "description": "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.", "id": "MONDO:0013527", "name": "Lissencephaly 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NDE1 lissencephaly (disease)", "lissencephaly (disease) caused by mutation in NDE1", "lissencephaly 4", "lissencephaly 4 (with microcephaly)", "lissencephaly type 4"], "xref": ["DOID:0112235", "GARD:0024934", "MEDGEN:462811", "OMIM:614019", "UMLS:C3151461"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.", "id": "MONDO:0013528", "name": "Intellectual disability, autosomal recessive 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TECR autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR", "intellectual disability, autosomal recessive 14", "intellectual disability, autosomal recessive type 14", "mental retardation, autosomal recessive type 14"], "xref": ["DOID:0081188", "GARD:0022549", "MEDGEN:462812", "OMIM:614020", "UMLS:C3151462"]}
{"category": ["biolink:Disease"], "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.", "id": "MONDO:0013529", "name": "Catecholaminergic polymorphic ventricular tachycardia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TECRL catecholaminergic polymorphic ventricular tachycardia", "catecholaminergic polymorphic ventricular tachycardia 3", "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL", "catecholaminergic polymorphic ventricular tachycardia type 3"], "xref": ["DOID:0060677", "GARD:0015744", "MEDGEN:462813", "OMIM:614021", "UMLS:C3151463"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.", "id": "MONDO:0013530", "name": "Atrial fibrillation, familial, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCN5A familial atrial fibrillation", "atrial fibrillation, familial, 10", "atrial fibrillation, familial, type 10", "familial atrial fibrillation caused by mutation in SCN5A"], "xref": ["GARD:0015745", "MEDGEN:462814", "OMIM:614022", "UMLS:C3151464"]}
{"category": ["biolink:Disease"], "description": "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.", "id": "MONDO:0013531", "name": "Psph deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSPH deficiency", "PSPHD", "phosphoserine phosphatase deficiency"], "xref": ["DOID:0050724", "GARD:0016717", "ICD9:277.6", "MEDGEN:452940", "OMIM:614023", "Orphanet:79350", "SCTID:124432005", "UMLS:C1291463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013532", "name": "Protein z deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["protein Z deficiency", "protein z deficiency"], "xref": ["MEDGEN:462815", "OMIM:614024", "UMLS:C3151465"]}
{"category": ["biolink:Disease"], "description": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.", "id": "MONDO:0013533", "name": "Hyperlipidemia due to hepatic triglyceride lipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperlipidemia due to HL deficiency", "hyperlipidemia due to HTGL deficiency", "hyperlipidemia due to hepatic lipase deficiency"], "xref": ["GARD:0012864", "MEDGEN:462816", "OMIM:614025", "Orphanet:140905", "SCTID:720940008", "UMLS:C3151466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013534", "name": "Apolipoprotein c-iii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["apolipoprotein c-III deficiency"], "xref": ["DOID:0111370", "GARD:0018076", "MEDGEN:462817", "MESH:C566270", "OMIM:614028", "UMLS:C3151467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013535", "name": "Hydroxyacyl glutathione hydrolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["glyoxalase II deficiency", "hydroxyacyl glutathione hydrolase deficiency"], "xref": ["MEDGEN:481287", "MESH:C564215", "OMIM:614033", "UMLS:C3279657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013536", "name": "Heme oxygenase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["heme oxygenase 1 deficiency", "heme oxygenase-1 deficiency"], "xref": ["GARD:0017995", "MEDGEN:333882", "MESH:C564200", "OMIM:614034", "Orphanet:562509", "UMLS:C1841651"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.", "id": "MONDO:0013537", "name": "Autosomal recessive nonsyndromic hearing loss 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 29"], "xref": ["DOID:0110487", "GARD:0022641", "MEDGEN:481290", "OMIM:614035", "UMLS:C3279660"]}
{"category": ["biolink:Disease"], "description": "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.", "id": "MONDO:0013539", "name": "Hypotonia-failure to thrive-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LTC4 synthase deficiency", "leukotriene C4 synthase deficiency"], "xref": ["GARD:0016725", "MEDGEN:481292", "MESH:C565439", "OMIM:614037", "Orphanet:79507", "SCTID:717185008", "UMLS:C3279662"]}
{"category": ["biolink:Disease"], "description": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.", "id": "MONDO:0013540", "name": "Deafness-lymphedema-leukemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Emberger syndrome", "deafness-lymphedema-leukemia syndrome"], "xref": ["GARD:0013030", "ICD9:757.0", "MEDGEN:481294", "OMIM:614038", "Orphanet:3226", "SCTID:700057001", "UMLS:C3279664", "icd11.foundation:1818043307"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.", "id": "MONDO:0013541", "name": "Complex cortical dysplasia with other brain malformations 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDCBM1", "TUBB3 complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3", "complex cortical dysplasia with other brain malformations type 1", "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation", "cortical dysplasia, Complex, with Other brain malformations type 1"], "xref": ["DOID:0090137", "GARD:0013032", "MEDGEN:814727", "OMIM:614039", "Orphanet:300570", "UMLS:C3808397"]}
{"category": ["biolink:Disease"], "description": "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.", "id": "MONDO:0013542", "name": "Moyamoya disease 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTA2 Moyamoya disease", "Moyamoya disease 5", "Moyamoya disease caused by mutation in ACTA2", "Moyamoya disease type 5"], "xref": ["GARD:0015746", "MEDGEN:481320", "OMIM:614042", "UMLS:C3279690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013543", "name": "Trypsinogen deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["trypsinogen deficiency"], "xref": ["ICD9:277.89", "MEDGEN:450540", "OMIM:614044", "SCTID:190953007", "UMLS:C0268417"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.", "id": "MONDO:0013544", "name": "Atrial fibrillation, familial, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GJA5 familial atrial fibrillation", "atrial fibrillation, familial, 11", "atrial fibrillation, familial, type 11", "familial atrial fibrillation caused by mutation in GJA5"], "xref": ["GARD:0015747", "MEDGEN:481323", "OMIM:614049", "UMLS:C3279693"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.", "id": "MONDO:0013545", "name": "Atrial fibrillation, familial, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ABCC9 familial atrial fibrillation", "atrial fibrillation, familial, 12", "atrial fibrillation, familial, type 12", "familial atrial fibrillation caused by mutation in ABCC9"], "xref": ["GARD:0015748", "MEDGEN:481325", "OMIM:614050", "UMLS:C3279695"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.", "id": "MONDO:0013546", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MC5DN2", "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2", "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency", "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency", "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency"], "xref": ["DOID:0060331", "GARD:0016561", "MEDGEN:481329", "MESH:C567528", "OMIM:614052", "Orphanet:1194", "SCTID:718212006", "UMLS:C3279699"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.", "id": "MONDO:0013547", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency", "MC5DN3", "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3", "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E"], "xref": ["DOID:0060332", "GARD:0018666", "MEDGEN:481338", "OMIM:614053", "UMLS:C3279708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013548", "name": "Acetyl-coa acetyltransferase-2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ACAT2 deficiency, Isolated cases", "acetyl-CoA acetyltransferase-2 deficiency"], "xref": ["MEDGEN:90995", "MESH:C536005", "OMIM:614055", "UMLS:C0342735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013549", "name": "N-acetylaspartate deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["N-acetylaspartate deficiency"], "xref": ["MEDGEN:481346", "OMIM:614063", "UMLS:C3279716"]}
{"category": ["biolink:Disease"], "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.", "id": "MONDO:0013550", "name": "Distal myopathy with posterior leg and anterior hand involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal ABD-filaminopathy", "myopathy, distal, type 4"], "xref": ["DOID:0111190", "GARD:0016666", "MEDGEN:481352", "OMIM:614065", "Orphanet:63273", "SCTID:733489002", "UMLS:C3279722"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.", "id": "MONDO:0013551", "name": "Hereditary spastic paraplegia 47", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP4B1 hereditary spastic paraplegia", "SPG47", "Spastic Paraplegia 47", "hereditary spastic paraplegia 47", "hereditary spastic paraplegia caused by mutation in AP4B1", "hereditary spastic paraplegia type 47"], "xref": ["DOID:0110799", "GARD:0015749", "MEDGEN:481368", "NCIT:C164224", "NORD:1993", "OMIM:614066", "UMLS:C3279738"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.", "id": "MONDO:0013552", "name": "Hereditary spastic paraplegia 52", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP4S1 hereditary spastic paraplegia", "SPG52", "Spastic Paraplegia 52", "hereditary spastic paraplegia 52", "hereditary spastic paraplegia caused by mutation in AP4S1", "hereditary spastic paraplegia type 52"], "xref": ["DOID:0110804", "GARD:0015750", "MEDGEN:481373", "NORD:1991", "OMIM:614067", "UMLS:C3279743"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.", "id": "MONDO:0013553", "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome", "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2", "immunodeficiency-centromeric instability-facial anomalies syndrome 2", "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24", "immunodeficiency-centromeric instability-facial anomalies syndrome type 2"], "xref": ["DOID:0090009", "GARD:0015751", "MEDGEN:481378", "OMIM:614069", "UMLS:C3279748"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.", "id": "MONDO:0013555", "name": "Hermansky-pudlak syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPS3 Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 3", "Hermansky-Pudlak syndrome caused by mutation in HPS3", "Hermansky-Pudlak syndrome type 3"], "xref": ["DOID:0060541", "GARD:0018333", "MEDGEN:854708", "OMIM:614072", "UMLS:C3888001"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.", "id": "MONDO:0013556", "name": "Hermansky-pudlak syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPS4 Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 4", "Hermansky-Pudlak syndrome caused by mutation in HPS4", "Hermansky-Pudlak syndrome type 4"], "xref": ["DOID:0060542", "GARD:0018332", "MEDGEN:483344", "OMIM:614073", "UMLS:C3484357"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.", "id": "MONDO:0013557", "name": "Hermansky-pudlak syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPS5 Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 5", "Hermansky-Pudlak syndrome caused by mutation in HPS5", "Hermansky-Pudlak syndrome type 5"], "xref": ["DOID:0060543", "GARD:0018334", "MEDGEN:854711", "OMIM:614074", "UMLS:C3888004"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.", "id": "MONDO:0013558", "name": "Hermansky-pudlak syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPS6 Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 6", "Hermansky-Pudlak syndrome caused by mutation in HPS6", "Hermansky-Pudlak syndrome type 6"], "xref": ["DOID:0060544", "GARD:0018335", "MEDGEN:854714", "NCIT:C150369", "OMIM:614075", "UMLS:C3888007"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.", "id": "MONDO:0013559", "name": "Hermansky-pudlak syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DTNBP1 Hermansky-Pudlak syndrome", "HPS7", "Hermansky-Pudlak syndrome 7", "Hermansky-Pudlak syndrome caused by mutation in DTNBP1", "Hermansky-Pudlak syndrome type 7"], "xref": ["DOID:0060545", "GARD:0018336", "MEDGEN:481386", "OMIM:614076", "Orphanet:231531", "UMLS:C3279756"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.", "id": "MONDO:0013560", "name": "Hermansky-pudlak syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BLOC1S3 Hermansky-Pudlak syndrome", "HPS8", "Hermansky-Pudlak syndrome 8", "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3", "Hermansky-Pudlak syndrome type 8"], "xref": ["DOID:0060546", "GARD:0018337", "MEDGEN:854728", "OMIM:614077", "Orphanet:231537", "UMLS:C3888026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013561", "name": "Chondrodysplasia with joint dislocations, gpapp type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chondrodysplasia with joint dislocations, gPAPP type", "gPAPP deficiency"], "xref": ["DOID:0112224", "GARD:0011009", "MEDGEN:481387", "OMIM:614078", "Orphanet:280586", "UMLS:C3279757"]}
{"category": ["biolink:Disease"], "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.", "id": "MONDO:0013563", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "PIGN-CDG", "congenital disorder of glycosylation due to PIGN deficiency", "inherited GPI anchor-deficiency", "multiple congenital anomalies-hypotonia-seizures syndrome 1", "multiple congenital anomalies-hypotonia-seizures syndrome type 1", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN"], "xref": ["DOID:0080138", "GARD:0012781", "MEDGEN:481405", "NCIT:C176896", "OMIM:614080", "Orphanet:280633", "UMLS:C3279775"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013564", "name": "Anhaptoglobinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anhaptoglobinemia", "hypohaptoglobinemia"], "xref": ["MEDGEN:481416", "OMIM:614081", "UMLS:C3279786"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia caused by mutations of the FANCG gene.", "id": "MONDO:0013565", "name": "Fanconi anemia complementation group g", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCG", "Fanconi Anemia, complementation group type G", "Fanconi anaemia complementation group type G", "Fanconi anemia complementation group G", "Fanconi anemia complementation group type G"], "xref": ["DOID:0111086", "GARD:0015753", "MEDGEN:854017", "NCIT:C125708", "OMIM:614082", "UMLS:C3469527"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", "id": "MONDO:0013566", "name": "Fanconi anemia complementation group l", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FANCL", "FANCL Fanconi anaemia", "FANCL Fanconi anemia", "Fanconi Anemia, complementation group type 50", "Fanconi anaemia caused by mutation in FANCL", "Fanconi anaemia complementation group type L", "Fanconi anemia caused by mutation in FANCL", "Fanconi anemia complementation group L", "Fanconi anemia complementation group type L"], "xref": ["DOID:0111082", "GARD:0015754", "MEDGEN:854018", "OMIM:614083", "UMLS:C3469528"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.", "id": "MONDO:0013567", "name": "Atrial septal defect 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD3", "MYH6 atrial heart septal defect", "atrial heart septal defect caused by mutation in MYH6", "atrial heart septal defect type 3", "atrial septal defect 3", "atrial septal defect type 3"], "xref": ["DOID:0110108", "GARD:0015755", "MEDGEN:481420", "MESH:C563540", "OMIM:614089", "UMLS:C3279790"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.", "id": "MONDO:0013569", "name": "Short-rib thoracic dysplasia 7 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SRPS5", "SRTD7", "short rib-polydactyly syndrome type 5", "short rib-polydactyly syndrome, type 5", "short-rib thoracic dysplasia 7 with or without polydactyly"], "xref": ["DOID:0110090", "GARD:0015756", "MEDGEN:481422", "OMIM:614091", "Orphanet:498497", "UMLS:C3279792"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.", "id": "MONDO:0013570", "name": "Combined oxidative phosphorylation defect type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AARS2 combined oxidative phosphorylation deficiency", "COXPD8", "combined oxidative phosphorylation deficiency caused by mutation in AARS2", "combined oxidative phosphorylation deficiency type 8"], "xref": ["DOID:0111479", "GARD:0017452", "MEDGEN:1377817", "OMIM:614096", "Orphanet:319504", "SCTID:733600007", "UMLS:C4518839"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.", "id": "MONDO:0013571", "name": "Acatalasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acatalasemia", "acatalasia", "catalase deficiency"], "xref": ["DOID:2582", "EFO:0004144", "GARD:0000363", "HGNC:1516", "ICD9:277.6", "MEDGEN:75679", "MESH:D020642", "NANDO:1200774", "NCIT:C84526", "OMIM:614097", "Orphanet:926", "SCTID:124202004", "UMLS:C0268419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013572", "name": "Keppen-lubinsky syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Keppen-Lubinsky syndrome", "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome", "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome"], "xref": ["GARD:0017716", "MEDGEN:481430", "OMIM:614098", "Orphanet:435628", "UMLS:C3279800"]}
{"category": ["biolink:Disease"], "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.", "id": "MONDO:0013573", "name": "Cranioectodermal dysplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cranioectodermal dysplasia type 3", "IFT43 cranioectodermal dysplasia", "cranioectodermal dysplasia 3", "cranioectodermal dysplasia caused by mutation in IFT43"], "xref": ["DOID:0080805", "GARD:0015757", "MEDGEN:481437", "OMIM:614099", "UMLS:C3279807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013574", "name": "Cutis laxa - marfanoid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cutis laxa - Marfanoid syndrome"], "xref": ["GARD:0017069", "MEDGEN:96594", "MESH:C563639", "OMIM:614100", "Orphanet:171719", "SCTID:254221009", "UMLS:C0432335", "icd11.foundation:467492754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013575", "name": "Plasma fibronectin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["plasma fibronectin deficiency"], "xref": ["MEDGEN:436433", "OMIM:614101", "UMLS:C2675436"]}
{"category": ["biolink:Disease"], "description": "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.", "id": "MONDO:0013576", "name": "Recurrent infections associated with rare immunoglobulin isotypes deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IgG subclass deficiency with IgA subclass deficiency", "isolated IgG subclass deficiency", "kappa-chain deficiency", "recurrent infections associated with rare immunoglobulin isotypes deficiency"], "xref": ["GARD:0017086", "MEDGEN:481454", "MESH:C564131", "NANDO:2200719", "OMIM:614102", "Orphanet:183675", "UMLS:C3279824"]}
{"category": ["biolink:Disease"], "description": "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.", "id": "MONDO:0013577", "name": "Lipedema", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Lipedema (disease)", "lipedema"], "xref": ["HP:0100695", "MEDGEN:451048", "MESH:D065134", "MedDRA:10063955", "OMIM:614103", "Orphanet:77243", "SCTID:234102003", "UMLS:C0398370"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.", "id": "MONDO:0013578", "name": "Dyrk1a-related intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD7", "autosomal dominant intellectual disability 7", "intellectual disability, autosomal dominant type 7", "mental retardation, autosomal dominant type 7"], "xref": ["DOID:0070037", "GARD:0013527", "MEDGEN:1799566", "OMIM:614104", "Orphanet:464306", "UMLS:C5568143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013579", "name": "Methylmalonate semialdehyde dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["developmental delay due to ALDH6A1 deficiency", "developmental delay due to MMSDH deficiency", "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency", "methylmalonate semialdehyde dehydrogenase deficiency"], "xref": ["GARD:0017322", "MEDGEN:481470", "MESH:C566402", "OMIM:614105", "Orphanet:289307", "UMLS:C3279840", "icd11.foundation:1700759193"]}
{"category": ["biolink:Disease"], "description": "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.", "id": "MONDO:0013580", "name": "Pyruvate dehydrogenase e1-beta deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PDHBD", "pyruvate dehydrogenase E1-beta deficiency", "pyruvate dehydrogenase complex E1 component subunit beta deficiency"], "xref": ["GARD:0017236", "MEDGEN:481471", "MESH:C566729", "OMIM:614111", "Orphanet:255138", "UMLS:C3279841"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.", "id": "MONDO:0013581", "name": "Intellectual disability, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DOCK8 autosomal dominant non-syndromic intellectual disability", "MRD2", "autosomal dominant intellectual disability 2", "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8", "intellectual disability, autosomal dominant 2", "intellectual disability, autosomal dominant type 2", "mental retardation, autosomal dominant type 2"], "xref": ["DOID:0070032", "GARD:0016458", "MEDGEN:481472", "OMIM:614113", "UMLS:C3279842"]}
{"category": ["biolink:Disease"], "description": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.", "id": "MONDO:0013582", "name": "Mosaic variegated aneuploidy syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["CEP57 mosaic variegated aneuploidy syndrome", "Mosaic variegated aneuploidy syndrome type 2", "mosaic variegated aneuploidy syndrome 2", "mosaic variegated aneuploidy syndrome caused by mutation in CEP57", "mosaic variegated aneuploidy syndrome type 2"], "xref": ["DOID:0080142", "GARD:0015758", "MEDGEN:481473", "NCIT:C168989", "OMIM:614114", "UMLS:C3279843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013583", "name": "Occipital pachygyria and polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["occipital MCD", "occipital malformations of cortical development"], "xref": ["GARD:0017299", "MEDGEN:481505", "OMIM:614115", "Orphanet:280640", "UMLS:C3279875"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.", "id": "MONDO:0013584", "name": "Hereditary sensory neuropathy-deafness-dementia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN1E", "HSN1E", "Hereditary Sensory and Autonomic Neuropathy Type 1E", "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"], "xref": ["DOID:0070158", "GARD:0011927", "MEDGEN:481515", "MESH:C580162", "NORD:1903", "OMIM:614116", "Orphanet:456318", "UMLS:C3279885"]}
{"category": ["biolink:Disease"], "description": "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.", "id": "MONDO:0013585", "name": "Hydrolethalus syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF7 hydrolethalus syndrome", "hydrolethalus syndrome 2", "hydrolethalus syndrome caused by mutation in KIF7", "hydrolethalus syndrome type 2"], "xref": ["DOID:0111356", "GARD:0015759", "MEDGEN:481529", "OMIM:614120", "UMLS:C3279899"]}
{"category": ["biolink:Disease"], "description": "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.", "id": "MONDO:0013587", "name": "Glycogen storage disease due to lactate dehydrogenase h-subunit deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to lactate dehydrogenase H-subunit deficiency", "LDH-H subunit deficiency", "glycogenosis due to lactate dehydrogenase H-subunit deficiency", "lactate dehydrogenase B deficiency", "lactate dehydrogenase-B deficiency"], "xref": ["GARD:0003161", "MEDGEN:481534", "MESH:C563641", "OMIM:614128", "Orphanet:284435", "UMLS:C3279904"]}
{"category": ["biolink:Disease"], "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.", "id": "MONDO:0013588", "name": "Perrault syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLPP Perrault syndrome", "Perrault syndrome 3", "Perrault syndrome caused by mutation in CLPP", "Perrault syndrome type 3"], "xref": ["GARD:0015760", "MEDGEN:814744", "OMIM:614129", "UMLS:C3808414"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.", "id": "MONDO:0013589", "name": "Focal segmental glomerulosclerosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSGS6", "MYO1E focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis 6", "focal segmental glomerulosclerosis caused by mutation in MYO1E", "focal segmental glomerulosclerosis type 6"], "xref": ["DOID:0111131", "GARD:0015761", "MEDGEN:481535", "OMIM:614131", "UMLS:C3279905"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.", "id": "MONDO:0013590", "name": "Stickler syndrome, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL9A1 autosomal recessive Stickler syndrome", "autosomal recessive Stickler syndrome caused by mutation in COL9A1"], "xref": ["GARD:0018358", "MEDGEN:481571", "OMIM:614134", "UMLS:C3279941"]}
{"category": ["biolink:Disease"], "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.", "id": "MONDO:0013591", "name": "Epiphyseal dysplasia, multiple, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL9A1 multiple epiphyseal dysplasia (disease)", "epiphyseal dysplasia, multiple, 6", "epiphyseal dysplasia, multiple, type 6", "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1"], "xref": ["DOID:0070301", "GARD:0013376", "MEDGEN:436517", "OMIM:614135", "UMLS:C2675767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013592", "name": "Nonsyndromic congenital nail disorder 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nonsyndromic congenital nail disorder type 9"], "xref": ["DOID:0080087", "GARD:0015762", "ICD9:703.8", "MEDGEN:481577", "OMIM:614149", "SCTID:87065009", "UMLS:C3279947"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.", "id": "MONDO:0013593", "name": "Autosomal dominant nonsyndromic hearing loss 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110585", "GARD:0018134", "MEDGEN:481578", "OMIM:614152", "UMLS:C3279948"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.", "id": "MONDO:0013594", "name": "Spinocerebellar ataxia type 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Asidan", "SCA36", "spinocerebellar ataxia type 36"], "xref": ["DOID:0050983", "GARD:0012367", "MEDGEN:483339", "NANDO:1200048", "NCIT:C148316", "OMIM:614153", "Orphanet:276198", "SCTID:711158005", "UMLS:C3472711", "icd11.foundation:1544814018"]}
{"category": ["biolink:Disease"], "description": "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.", "id": "MONDO:0013595", "name": "Hyperbiliverdinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["green jaundice", "hyperbiliverdinemia"], "xref": ["GARD:0017279", "MEDGEN:481594", "OMIM:614156", "Orphanet:276405", "UMLS:C3279964"]}
{"category": ["biolink:Disease"], "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.", "id": "MONDO:0013597", "name": "Platelet-type bleeding disorder 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDPLT14", "TBXAS1 inherited bleeding disorder, platelet-type", "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1"], "xref": ["DOID:0111047", "GARD:0024935", "MEDGEN:98307", "MESH:C562866", "OMIM:614158", "SCTID:234477002", "UMLS:C0398635"]}
{"category": ["biolink:Disease"], "description": "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.", "id": "MONDO:0013598", "name": "Myostatin-related muscle hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MSLHP"], "xref": ["DOID:0111072", "HGNC:4223", "ICD9:756.89", "MEDGEN:418994", "MESH:C536106", "OMIM:614160", "Orphanet:275534", "SCTID:699185005", "UMLS:C2931112"]}
{"category": ["biolink:Disease"], "description": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.", "id": "MONDO:0013599", "name": "Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant", "immunodeficiency type 31C"], "xref": ["DOID:0111946", "GARD:0012314", "MEDGEN:481620", "OMIM:614162", "Orphanet:391487", "UMLS:C3279990"]}
{"category": ["biolink:Disease"], "description": "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.", "id": "MONDO:0013600", "name": "Insomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["insomnia", "insomnia (disease)"], "xref": ["EFO:0004698", "HP:0100785", "ICD10CM:G47.0", "ICD10WHO:G47.0", "ICD9:780.52", "MEDGEN:214589", "MESH:D007319", "NCIT:C28286", "SCTID:193462001", "UMLS:C0917801"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013601", "name": "Gluthathione peroxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gluthathione peroxidase deficiency", "hemolytic anaemia due to glutathione peroxidase deficiency", "hemolytic anemia due to glutathione peroxidase deficiency"], "xref": ["GARD:0024936", "MEDGEN:473098", "OMIM:614164", "SCTID:234590006", "UMLS:C0398747"]}
{"category": ["biolink:Disease"], "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.", "id": "MONDO:0013602", "name": "Pheochromocytoma/paraganglioma syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SDHA paraganglioma", "paraganglioma caused by mutation in SDHA", "paragangliomas 5", "paragangliomas type 5", "pheochromocytoma/paraganglioma syndrome 5"], "xref": ["DOID:0061220", "GARD:0015763", "MEDGEN:481622", "OMIM:614165", "UMLS:C3279992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013603", "name": "Myopia 20, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP20", "myopia 20, autosomal dominant"], "xref": ["MEDGEN:481626", "OMIM:614166", "UMLS:C3279996"]}
{"category": ["biolink:Disease"], "description": "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.", "id": "MONDO:0013604", "name": "Myopia 21, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ZNF644 myopia (disease)", "myopia (disease) caused by mutation in ZNF644", "myopia 21, autosomal dominant"], "xref": ["MEDGEN:481627", "OMIM:614167", "UMLS:C3279997"]}
{"category": ["biolink:Disease"], "description": "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.", "id": "MONDO:0013605", "name": "Brittle cornea syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRDM5 brittle cornea syndrome", "brittle cornea syndrome 2", "brittle cornea syndrome caused by mutation in PRDM5", "brittle cornea syndrome type 2"], "xref": ["DOID:0080729", "GARD:0015764", "MEDGEN:481641", "OMIM:614170", "UMLS:C3280011"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.", "id": "MONDO:0013606", "name": "Hermansky-pudlak syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BLOC1S6 Hermansky-Pudlak syndrome", "HPS9", "Hermansky-Pudlak syndrome 9", "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6", "Hermansky-Pudlak syndrome type 9"], "xref": ["DOID:0060547", "GARD:0018338", "MEDGEN:481656", "OMIM:614171", "Orphanet:280663", "UMLS:C3280026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013607", "name": "Monocytopenia with susceptibility to infections", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["MonoMAC", "immunodeficiency type 21", "monocytopenia and mycobacterial infection syndrome"], "xref": ["DOID:0111947", "GARD:0010934", "MEDGEN:481660", "OMIM:614172", "Orphanet:228423", "UMLS:C3280030", "icd11.foundation:1077753382"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.", "id": "MONDO:0013608", "name": "Joubert syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS13", "Joubert syndrome 13", "Joubert syndrome caused by mutation in TCTN1", "Joubert syndrome type 13", "TCTN1 Joubert syndrome"], "xref": ["DOID:0110982", "GARD:0015765", "MEDGEN:481661", "OMIM:614173", "UMLS:C3280031"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.", "id": "MONDO:0013609", "name": "Meckel syndrome, type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["B9D2 Meckel syndrome", "Meckel syndrome caused by mutation in B9D2", "Meckel syndrome, type 10", "meckel syndrome 10"], "xref": ["GARD:0024937", "GTR:AN1012156", "GTR:AN1012610", "MEDGEN:481666", "OMIM:614175", "UMLS:C3280036"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.", "id": "MONDO:0013610", "name": "Retinitis pigmentosa 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CLRN1 retinitis pigmentosa", "RP61", "retinitis pigmentosa 61", "retinitis pigmentosa caused by mutation in CLRN1", "retinitis pigmentosa type 61"], "xref": ["DOID:0110373", "GARD:0015766", "MEDGEN:481671", "OMIM:614180", "UMLS:C3280041"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.", "id": "MONDO:0013611", "name": "Retinitis pigmentosa 62", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MAK retinitis pigmentosa", "RP62", "retinitis pigmentosa 62", "retinitis pigmentosa caused by mutation in MAK", "retinitis pigmentosa type 62"], "xref": ["DOID:0110380", "GARD:0015767", "MEDGEN:481672", "OMIM:614181", "UMLS:C3280042"]}
{"category": ["biolink:Disease"], "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.", "id": "MONDO:0013612", "name": "Geleophysic dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FBN1 geleophysic dysplasia", "Geleophysic dysplasia 2", "Geleophysic dysplasia type 2", "geleophysic dysplasia caused by mutation in FBN1"], "xref": ["DOID:0111726", "GARD:0015768", "MEDGEN:481684", "OMIM:614185", "UMLS:C3280054"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.", "id": "MONDO:0013613", "name": "Leber congenital amaurosis 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNJ13 Leber congenital amaurosis", "LCA16", "Leber congenital amaurosis 16", "Leber congenital amaurosis caused by mutation in KCNJ13", "Leber congenital amaurosis type 16"], "xref": ["DOID:0110118", "GARD:0010885", "MEDGEN:481692", "OMIM:614186", "UMLS:C3280062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013614", "name": "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPPD", "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"], "xref": ["GARD:0017351", "MEDGEN:1659106", "OMIM:614187", "Orphanet:293958", "UMLS:C4751125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013615", "name": "Craniosynostosis and dental anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kreiborg-Pakistani syndrome", "craniosynostosis and dental anomalies"], "xref": ["GARD:0017309", "MEDGEN:481703", "OMIM:614188", "Orphanet:284149", "UMLS:C3280073"]}
{"category": ["biolink:Disease"], "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.", "id": "MONDO:0013616", "name": "Pigmented nodular adrenocortical disease, primary, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE8B primary pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary, 3", "pigmented nodular adrenocortical disease, primary, type 3", "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B"], "xref": ["DOID:0070548", "GARD:0015769", "MEDGEN:481724", "OMIM:614190", "UMLS:C3280094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013618", "name": "Craniofacial anomalies and anterior segment dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["craniofacial anomalies and anterior segment dysgenesis syndrome"], "xref": ["MEDGEN:481729", "OMIM:614195", "UMLS:C3280099"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.", "id": "MONDO:0013619", "name": "Nephrotic syndrome, type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PTPRO nephrotic syndrome", "nephrotic syndrome caused by mutation in PTPRO", "nephrotic syndrome, type 6"], "xref": ["DOID:0080384", "GARD:0015770", "MEDGEN:481730", "OMIM:614196", "UMLS:C3280100"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.", "id": "MONDO:0013620", "name": "Congenital myasthenic syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS16", "SCN4A congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in SCN4A", "congenital myasthenic syndrome type 16", "myasthenic syndrome, congenital, type 16"], "xref": ["DOID:0110682", "GARD:0015771", "MEDGEN:481742", "OMIM:614198", "UMLS:C3280112"]}
{"category": ["biolink:Disease"], "description": "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.", "id": "MONDO:0013621", "name": "Lamb2-related infantile-onset nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mesangial sclerosis, diffuse renal, with ocular abnormalities"], "xref": ["DOID:0080380", "GARD:0027849", "MEDGEN:481743", "MESH:C565405", "OMIM:249660", "OMIM:614199", "Orphanet:306507", "UMLS:C3280113"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013622", "name": "Platelet-type bleeding disorder 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT9", "GP Ia deficiency", "collagen platelet receptor deficiency", "glycoprotein Ia deficiency"], "xref": ["DOID:0111045", "GARD:0016868", "MEDGEN:481744", "MESH:C566000", "OMIM:614200", "Orphanet:98886", "UMLS:C3280114"]}
{"category": ["biolink:Disease"], "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene, the gene encoding platelet glycoprotein VI (GPVI), a critical collagen receptor. Affected individuals typically have mild to moderate bleeding, including epistaxis, easy bruising, menorrhagia, or postsurgical bleeding, despite normal platelet morphology. Laboratory findings include absent or markedly reduced GPVI expression, defective platelet activation and aggregation in response to collagen, prolonged bleeding time, and impaired collagen binding.", "id": "MONDO:0013623", "name": "Platelet-type bleeding disorder 11", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT11", "GP6 inherited bleeding disorder, platelet-type", "GP6-related platelet disorder", "inherited bleeding disorder, platelet-type caused by mutation in GP6", "platelet-type bleeding disorder 11"], "xref": ["DOID:0111057", "GARD:0013293", "MEDGEN:481750", "NANDO:2200670", "OMIM:614201", "Orphanet:98885", "SCTID:765977002", "UMLS:C3280120"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.", "id": "MONDO:0013624", "name": "Rafiq syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDG2U", "MAN1B1 autosomal recessive non-syndromic intellectual disability", "RAFQS", "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1", "intellectual disability, autosomal recessive 15", "mental retardation, autosomal recessive 15", "mental retardation, autosomal recessive type 15"], "xref": ["DOID:0081097", "GARD:0022550", "MEDGEN:481757", "OMIM:614202", "UMLS:C3280127"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.", "id": "MONDO:0013625", "name": "Parkinson disease 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["Parkinson disease 17", "Parkinson disease caused by mutation in VPS35", "Parkinson disease type 17", "VPS35 Parkinson disease"], "xref": ["DOID:0060897", "GARD:0018478", "MEDGEN:481763", "OMIM:614203", "UMLS:C3280133"]}
{"category": ["biolink:Disease"], "description": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.", "id": "MONDO:0013626", "name": "Psoriasis 14, pustular", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DITRA", "IL36RN psoriasis", "Interleukin 36 receptor antagonist deficiency", "PSORP", "PSORS14", "acrodermatitis continua of Hallopeau", "acrodermatitis continua suppurativa of Hallopeau", "deficiency of IL-36R antagonist", "deficiency of IL-36Ra", "deficiency of the interleukin-36 receptor antagonist", "familial generalised pustular psoriasis", "psoriasis 14, pustular", "psoriasis caused by mutation in IL36RN"], "xref": ["DOID:0080474", "GARD:0017679", "ICD9:696.1", "MEDGEN:581114", "NANDO:1200244", "NANDO:2200452", "NCIT:C119057", "OMIM:614204", "Orphanet:163931", "Orphanet:404546", "SCTID:83839005", "UMLS:C0392439"]}
{"category": ["biolink:Disease"], "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.", "id": "MONDO:0013627", "name": "3m syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["3-M syndrome 3", "3-M syndrome caused by mutation in CCDC8", "3M syndrome 3", "CCDC8 3-M syndrome", "three M syndrome 3", "three M syndrome type 3"], "xref": ["GARD:0015772", "MEDGEN:481776", "OMIM:614205", "UMLS:C3280146"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.", "id": "MONDO:0013628", "name": "Hyperphosphatasia with intellectual disability syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PGAP2 hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 3", "hyperphosphatasia with intellectual disability syndrome type 3", "hyperphosphatasia with mental retardation syndrome 3", "hyperphosphatasia with mental retardation syndrome type 3", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2"], "xref": ["DOID:0070435", "GARD:0018350", "MEDGEN:481783", "OMIM:614207", "UMLS:C3280153"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013629", "name": "Intellectual disability, autosomal recessive 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT16", "intellectual disability, autosomal recessive 16"], "xref": ["DOID:0081189", "GARD:0022551", "MEDGEN:481784", "OMIM:614208", "UMLS:C3280154"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.", "id": "MONDO:0013630", "name": "Meckel syndrome, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["B9D1 Meckel syndrome", "Meckel syndrome caused by mutation in B9D1", "Meckel syndrome, type 9", "meckel syndrome 9"], "xref": ["GARD:0015773", "MEDGEN:481785", "OMIM:614209", "UMLS:C3280155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013631", "name": "Lung cancer susceptibility 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["LNCR5", "lung cancer susceptibility 5"], "xref": ["GARD:0027850", "MEDGEN:481786", "OMIM:614210", "UMLS:C3280156"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.", "id": "MONDO:0013632", "name": "Autosomal dominant nonsyndromic hearing loss 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110562", "GARD:0018135", "MEDGEN:854638", "OMIM:614211", "UMLS:C3887930"]}
{"category": ["biolink:Disease"], "description": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.", "id": "MONDO:0013634", "name": "Neuropathy, hereditary sensory, type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSN2C", "KIF1A hereditary sensory and autonomic neuropathy type 2", "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A"], "xref": ["DOID:0070147", "GARD:0015774", "MEDGEN:481798", "OMIM:614213", "UMLS:C3280168"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.", "id": "MONDO:0013635", "name": "Adams-oliver syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Adams-Oliver syndrome 2", "Adams-Oliver syndrome caused by mutation in DOCK6", "Adams-Oliver syndrome type 2", "DOCK6 Adams-Oliver syndrome"], "xref": ["GARD:0015775", "MEDGEN:481812", "OMIM:614219", "UMLS:C3280182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013636", "name": "Primary biliary cholangitis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070361", "GARD:0015776", "MEDGEN:481831", "OMIM:614220", "UMLS:C3280201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013637", "name": "Primary biliary cholangitis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070362", "GARD:0015777", "MEDGEN:481832", "OMIM:614221", "UMLS:C3280202"]}
{"category": ["biolink:Disease"], "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.", "id": "MONDO:0013638", "name": "Warburg micro syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAB18 Warburg micro syndrome", "WARBM3", "Warburg micro syndrome 3", "Warburg micro syndrome caused by mutation in RAB18", "Warburg micro syndrome type 3", "micro syndrome 3"], "xref": ["DOID:0110718", "GARD:0015778", "MEDGEN:481833", "OMIM:614222", "UMLS:C3280203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013640", "name": "Familial retinal arterial macroaneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FRAM", "Fram", "retinal arterial macroaneurysm and supravalvular pulmonic stenosis"], "xref": ["GARD:0012779", "MEDGEN:481835", "OMIM:614224", "Orphanet:284247", "SCTID:764452004", "UMLS:C3280205", "icd11.foundation:800928909"]}
{"category": ["biolink:Disease"], "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.", "id": "MONDO:0013641", "name": "Warburg micro syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAB3GAP2 Warburg micro syndrome", "WARBM2", "Warburg micro syndrome 2", "Warburg micro syndrome caused by mutation in RAB3GAP2", "Warburg micro syndrome type 2", "micro syndrome 2"], "xref": ["DOID:0110717", "GARD:0015780", "MEDGEN:481844", "OMIM:614225", "UMLS:C3280214"]}
{"category": ["biolink:Disease"], "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.", "id": "MONDO:0013642", "name": "Holoprosencephaly 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDON holoprosencephaly", "HPE11", "holoprosencephaly 11", "holoprosencephaly caused by mutation in CDON", "holoprosencephaly type 11"], "xref": ["DOID:0110877", "GARD:0024938", "MEDGEN:481845", "OMIM:614226", "UMLS:C3280215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013643", "name": "Hyperuricemic nephropathy, familial juvenile type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HNFJ3"], "xref": ["MEDGEN:481846", "OMIM:614227", "UMLS:C3280216"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.", "id": "MONDO:0013644", "name": "Charcot-marie-tooth disease axonal type 2o", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2O", "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1", "Charcot-Marie-Tooth disease, axonal, type 20", "DYNC1H1 Charcot-Marie-Tooth disease", "autosomal dominant Charcot-Marie-Tooth disease type 2O"], "xref": ["DOID:0110175", "GARD:0012434", "MEDGEN:481850", "OMIM:614228", "Orphanet:284232", "UMLS:C3280220"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.", "id": "MONDO:0013645", "name": "Autosomal recessive spinocerebellar ataxia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR11", "SYT14 autosomal recessive syndromic cerebellar ataxia", "autosomal recessive spinocerebellar ataxia 11", "autosomal recessive spinocerebellar ataxia type 11", "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14", "spinocerebellar ataxia, autosomal recessive type 11"], "xref": ["DOID:0080063", "GARD:0017312", "MEDGEN:1681191", "OMIM:614229", "Orphanet:284271", "UMLS:C5190803"]}
{"category": ["biolink:Disease"], "description": "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.", "id": "MONDO:0013646", "name": "Chromosome 8q21.11 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["8q21.11 microdeletion syndrome", "Del(8)(q21.11)", "chromosome 8q21.11 deletion syndrome", "chromosome 8q21.11 deletion syndrome, isolated cases", "deletion 8q21.11", "monosomy 8q21.11"], "xref": ["DECIPHER:86", "DOID:0060425", "GARD:0017310", "MEDGEN:481861", "OMIM:614230", "Orphanet:284160", "SCTID:718615003", "UMLS:C3280231"]}
{"category": ["biolink:Disease"], "description": "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.", "id": "MONDO:0013648", "name": "Familial progressive hyperpigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["melanosis diffusa congenita", "melanosis universalis hereditaria", "universal melanosis"], "xref": ["GARD:0016706", "OMIM:614233", "Orphanet:79146", "SCTID:715630006", "icd11.foundation:1808730427"]}
{"category": ["biolink:Disease"], "description": "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.", "id": "MONDO:0013649", "name": "Hypotrichosis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT9", "hypotrichosis 9", "hypotrichosis type 9", "hypt9"], "xref": ["DOID:0110706", "GARD:0015781", "MEDGEN:481882", "OMIM:614237", "UMLS:C3280252"]}
{"category": ["biolink:Disease"], "description": "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.", "id": "MONDO:0013650", "name": "Hypotrichosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT10", "hypotrichosis 10", "hypotrichosis type 10", "hypt10"], "xref": ["DOID:0110707", "GARD:0015782", "MEDGEN:481883", "OMIM:614238", "UMLS:C3280253"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.", "id": "MONDO:0013651", "name": "Intellectual disability, autosomal recessive 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MED23 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23", "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy", "intellectual disability, autosomal recessive 18", "intellectual disability, autosomal recessive type 18", "mental retardation, autosomal recessive type 18"], "xref": ["DOID:0081190", "GARD:0022552", "MEDGEN:481895", "OMIM:614249", "UMLS:C3280265"]}
{"category": ["biolink:Disease"], "description": "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.", "id": "MONDO:0013652", "name": "Narcolepsy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MOG narcolepsy", "narcolepsy 7", "narcolepsy caused by mutation in MOG", "narcolepsy type 7"], "xref": ["GARD:0015783", "MEDGEN:481896", "OMIM:614250", "UMLS:C3280266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013654", "name": "Aneurysm, intracranial berry, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANIB11"], "xref": ["DOID:0080974", "GARD:0018329", "MEDGEN:481905", "OMIM:614252", "UMLS:C3280275"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.", "id": "MONDO:0013655", "name": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GRIN1 autosomal dominant non-syndromic intellectual disability", "MRD8", "NDHMSD", "autosomal dominant intellectual disability 8", "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1", "intellectual disability, autosomal dominant 8", "intellectual disability, autosomal dominant type 8", "mental retardation, autosomal dominant 8", "mental retardation, autosomal dominant 8, formerly", "mental retardation, autosomal dominant type 8", "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"], "xref": ["DOID:0070038", "GARD:0013686", "MEDGEN:481912", "OMIM:614254", "UMLS:C3280282"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.", "id": "MONDO:0013656", "name": "Intellectual disability, autosomal dominant 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KIF1A autosomal dominant non-syndromic intellectual disability", "MRD9", "NESCAV syndrome", "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A", "intellectual disability, autosomal dominant 9", "intellectual disability, autosomal dominant type 9", "mental retardation, autosomal dominant type 9"], "xref": ["DOID:0070039", "GARD:0016459", "MEDGEN:1714250", "NCIT:C133742", "OMIM:614255", "Orphanet:662367", "UMLS:C5393830"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.", "id": "MONDO:0013657", "name": "Intellectual disability, autosomal dominant 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CACNG2 autosomal dominant non-syndromic intellectual disability", "MRD10", "autosomal dominant intellectual disability 10", "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2", "intellectual disability, autosomal dominant 10", "intellectual disability, autosomal dominant type 10", "mental retardation, autosomal dominant type 10"], "xref": ["DOID:0070040", "GARD:0016460", "MEDGEN:481914", "OMIM:614256", "UMLS:C3280284"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.", "id": "MONDO:0013658", "name": "Intellectual disability, autosomal dominant 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EPB41L1 autosomal dominant non-syndromic intellectual disability", "MRD11", "autosomal dominant intellectual disability 11", "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1", "intellectual developmental disorder, autosomal dominant 11", "intellectual disability, autosomal dominant 11", "intellectual disability, autosomal dominant type 11", "mental retardation, autosomal dominant type 11"], "xref": ["DOID:0070041", "GARD:0016461", "MEDGEN:481915", "OMIM:614257", "UMLS:C3280285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013659", "name": "Microcephaly-capillary malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MIC-CAP syndrome", "MIC-CM syndrome", "microcephaly-capillary malformation syndrome", "microcephaly-cutaneous capillary malformation syndrome"], "xref": ["GARD:0017354", "ICD9:759.89", "MEDGEN:481926", "OMIM:614261", "Orphanet:294016", "SCTID:703369003", "UMLS:C3280296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013660", "name": "Arthrogryposis, perthes disease, and upward gaze palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arthrogryposis, Perthes disease, and upward gaze palsy"], "xref": ["MEDGEN:481939", "OMIM:614262", "UMLS:C3280309"]}
{"category": ["biolink:Disease"], "description": "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.", "id": "MONDO:0013661", "name": "Combined malonic and methylmalonic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMAMMA", "combined malonic and methylmalonic acidemia", "combined malonic and methylmalonic aciduria"], "xref": ["DOID:0111263", "GARD:0010818", "MEDGEN:481944", "MESH:C580002", "OMIM:614265", "Orphanet:289504", "SCTID:702365002", "UMLS:C3280314"]}
{"category": ["biolink:Disease"], "description": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)", "id": "MONDO:0013662", "name": "Barrett esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["BE", "Barrett esophagus", "Barrett esophagus/esophageal adenocarcinoma", "Barrett's esophagus", "Barrett's oesophagus with esophagitis", "Barrett's ulcer of oesophagus", "CELLO", "CLE", "cello", "columnar epithelial-lined Lower esophagus", "columnar epithelial-lined Lower oesophagus", "columnar-lined esophagus", "columnar-lined oesophagus"], "xref": ["DOID:9206", "EFO:0000280", "ICD10CM:K22.7", "ICD9:530.85", "MEDGEN:2551", "MESH:D001471", "NCIT:C2891", "OMIM:614266", "Orphanet:1232", "SCTID:196609006", "UMLS:C0004763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013663", "name": "Platelet-activating factor acetylhydrolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["platelet-activating factor acetylhydrolase deficiency", "platelet-activating factor acetylhydrolase deficiency (disease)"], "xref": ["HP:0040175", "MEDGEN:481945", "MESH:C566640", "OMIM:614278", "UMLS:C3280315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013664", "name": "46,xy disorder of sex development due to testicular 17,20-desmolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["46,XY sex reversal type 8", "46XY sex reversal 8", "46XY sex reversal 8, modifier of"], "xref": ["DOID:0111773", "GARD:0017752", "MEDGEN:333416", "MESH:C564109", "OMIM:614279", "Orphanet:443087", "SCTID:49013001", "UMLS:C1839840"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.", "id": "MONDO:0013666", "name": "Stickler syndrome, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL9A2 autosomal recessive Stickler syndrome", "autosomal recessive Stickler syndrome caused by mutation in COL9A2"], "xref": ["GARD:0018359", "MEDGEN:481972", "OMIM:614284", "UMLS:C3280342"]}
{"category": ["biolink:Disease"], "description": "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.", "id": "MONDO:0013668", "name": "Tetrasomy 18p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Isochromosome 18p", "tetrasomy 18p", "tetrasomy type 18P", "tetrasomy type 18p"], "xref": ["GARD:0000035", "ICD9:758.89", "MEDGEN:167079", "MESH:C538306", "OMIM:614290", "Orphanet:3307", "SCTID:698849002", "UMLS:C0795868", "icd11.foundation:1182006735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013670", "name": "Myopia, high, with cataract and vitreoretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myopia, high, with cataract and vitreoretinal degeneration"], "xref": ["GARD:0018197", "MEDGEN:481976", "OMIM:614292", "UMLS:C3280346"]}
{"category": ["biolink:Disease"], "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.", "id": "MONDO:0013671", "name": "Hydatidiform mole, recurrent, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KHDC3L complete hydatidiform mole", "complete hydatidiform mole caused by mutation in KHDC3L", "hydatidiform Mole, recurrent, type 2", "hydatidiform mole, recurrent, 2"], "xref": ["GARD:0018366", "MEDGEN:481982", "OMIM:614293", "UMLS:C3280352"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013672", "name": "Chromosome 15q25 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 15q25 deletion syndrome"], "xref": ["DOID:0060396", "GARD:0010990", "MEDGEN:481985", "OMIM:614294", "UMLS:C3280355"]}
{"category": ["biolink:Disease"], "description": "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.", "id": "MONDO:0013673", "name": "Wolfram-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Wolfram-like syndrome"], "xref": ["DOID:0080584", "GARD:0017683", "MEDGEN:481988", "MESH:C565631", "OMIM:614296", "Orphanet:411590", "SCTID:734022008", "UMLS:C3280358"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.", "id": "MONDO:0013674", "name": "Neurodegeneration with brain iron accumulation 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C19orf12 neurodegeneration with brain iron accumulation", "MPAN", "NBIA due to C19orf12 mutation", "NBIA4", "mitochondrial Protein-associated neurodegeneration", "neurodegeneration with brain iron accumulation 4", "neurodegeneration with brain iron accumulation caused by mutation in C19orf12", "neurodegeneration with brain iron accumulation due to C19orf12 mutation", "neurodegeneration with brain iron accumulation type 4"], "xref": ["DOID:0110738", "GARD:0012569", "ICD9:333.0", "MEDGEN:482001", "NANDO:1200540", "NCIT:C175707", "OMIM:614298", "Orphanet:289560", "SCTID:709415008", "UMLS:C3280371"]}
{"category": ["biolink:Disease"], "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.", "id": "MONDO:0013675", "name": "Multiple mitochondrial dysfunctions syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BOLA3 deficiency", "BOLA3 fatal multiple mitochondrial dysfunctions syndrome", "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3", "multiple mitochondrial dysfunctions syndrome 2", "multiple mitochondrial dysfunctions syndrome type 2"], "xref": ["DOID:0080134", "GARD:0017662", "MEDGEN:482008", "OMIM:614299", "Orphanet:401874", "UMLS:C3280378"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.", "id": "MONDO:0013677", "name": "Emery-dreifuss muscular dystrophy 7, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Emery-Dreifuss muscular dystrophy 7, autosomal dominant", "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy", "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43"], "xref": ["DOID:0070252", "GARD:0018208", "MEDGEN:765974", "OMIM:614302", "UMLS:C3553060"]}
{"category": ["biolink:Disease"], "description": "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.", "id": "MONDO:0013678", "name": "Edict syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDICT syndrome", "KTCNCT", "autosomal dominant keratoconus with early-onset anterior polar cataracts", "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome", "familial keratoconus with cataract"], "xref": ["GARD:0017349", "MEDGEN:482022", "OMIM:614303", "Orphanet:293936", "SCTID:722439009", "UMLS:C3280392"]}
{"category": ["biolink:Disease"], "description": "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.", "id": "MONDO:0013679", "name": "Sclerosteosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LRP4 sclerosteosis", "SOST2", "sclerosteosis 2", "sclerosteosis caused by mutation in LRP4", "sclerosteosis type 2"], "xref": ["DOID:0060757", "GARD:0015786", "MEDGEN:482032", "OMIM:614305", "UMLS:C3280402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013680", "name": "Cognitive impairment with or without cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cognitive impairment with or without cerebellar ataxia"], "xref": ["MEDGEN:482045", "OMIM:614306", "UMLS:C3280415"]}
{"category": ["biolink:Disease"], "description": "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.", "id": "MONDO:0013681", "name": "Alpha-methylacyl-coa racemase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMACR", "AMACR deficiency", "alpha-methylacyl-CoA racemase deficiency"], "xref": ["DOID:0060602", "EFO:1001980", "GARD:0015787", "MEDGEN:482058", "MESH:C565768", "NANDO:1200768", "NCIT:C119677", "OMIM:614307", "SCTID:700463002", "UMLS:C3280428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013682", "name": "Vesicoureteral reflux 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VUR4", "vesicoureteral reflux 4"], "xref": ["GARD:0018421", "MEDGEN:482069", "OMIM:614317", "UMLS:C3280439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013683", "name": "Vesicoureteral reflux 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VUR5", "vesicoureteral reflux 5"], "xref": ["GARD:0018422", "MEDGEN:482070", "OMIM:614318", "UMLS:C3280440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013684", "name": "Vesicoureteral reflux 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VUR6", "vesicoureteral reflux 6"], "xref": ["GARD:0018423", "MEDGEN:482071", "OMIM:614319", "UMLS:C3280441"]}
{"category": ["biolink:Disease"], "description": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.", "id": "MONDO:0013685", "name": "Pancreatic cancer, susceptibility to, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BRCA1 familial pancreatic carcinoma", "familial pancreatic carcinoma caused by mutation in BRCA1", "pancreatic cancer, susceptibility to, 4", "pancreatic cancer, susceptibility to, type 4"], "xref": ["GARD:0027851", "MEDGEN:482072", "OMIM:614320", "UMLS:C3280442"]}
{"category": ["biolink:Disease"], "description": "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.", "id": "MONDO:0013686", "name": "Distal myopathy, tateyama type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111191", "GARD:0017900", "MEDGEN:482073", "OMIM:614321", "Orphanet:488650", "SCTID:711265009", "UMLS:C3280443"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.", "id": "MONDO:0013687", "name": "Autosomal recessive spinocerebellar ataxia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR12", "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome", "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX", "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX", "autosomal recessive spinocerebellar ataxia 12", "autosomal recessive spinocerebellar ataxia type 12", "spinocerebellar ataxia, autosomal recessive type 12"], "xref": ["DOID:0080060", "GARD:0017313", "MEDGEN:482082", "OMIM:614322", "Orphanet:284282", "UMLS:C3280452"]}
{"category": ["biolink:Disease"], "description": "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.", "id": "MONDO:0013688", "name": "Linear and whorled nevoid hypermelanosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Becker Nevus", "Becker's Nevus", "linear papular ectodermal-mesodermal hamartoma", "melanosis Neviformis", "pigmented hairy Epidermal Nevus", "pigmented hairy Nevus of Becker", "progressive cribriform and zosteriform hyperpigmentation"], "xref": ["GARD:0011004", "MEDGEN:473394", "NCIT:C3924", "OMIM:614323", "Orphanet:79150", "SCTID:403803002", "UMLS:C1304501"]}
{"category": ["biolink:Disease"], "description": "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.", "id": "MONDO:0013689", "name": "Ovarian dysgenesis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46 XX gonadal dysgenesis caused by mutation in PSMC3IP", "PSMC3IP 46 XX gonadal dysgenesis", "ovarian dysgenesis 3", "ovarian dysgenesis type 3"], "xref": ["DOID:0080495", "GARD:0018041", "MEDGEN:482101", "OMIM:614324", "UMLS:C3280471"]}
{"category": ["biolink:Disease"], "description": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.", "id": "MONDO:0013690", "name": "Pitt-hopkins-like syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NRXN1 Pitt-Hopkins-like syndrome", "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "PTHSL2", "Pitt-Hopkins-like syndrome 2", "Pitt-Hopkins-like syndrome caused by mutation in NRXN1", "Pitt-Hopkins-like syndrome type 2"], "xref": ["DOID:0111332", "GARD:0024939", "MEDGEN:482109", "OMIM:614325", "Orphanet:600663", "UMLS:C3280479"]}
{"category": ["biolink:Disease"], "description": "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.", "id": "MONDO:0013691", "name": "Feingold syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Brunner-Winter syndrome type 2", "FGLDS2", "FS2", "Feingold syndrome type 2", "MMT type 2", "brachydactyly-short stature-microcephaly syndrome", "microcephaly-digital anomalies-normal intelligence syndrome type 2", "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2"], "xref": ["GARD:0017625", "MEDGEN:482119", "OMIM:614326", "Orphanet:391646", "UMLS:C3280489"]}
{"category": ["biolink:Disease"], "description": "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.", "id": "MONDO:0013692", "name": "Bap1-related tumor predisposition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["BAP1-related tumor predisposition syndrome", "tumor susceptibility linked to germline BAP1 mutations", "tumour susceptibility linked to germline BAP1 mutations"], "xref": ["GARD:0013219", "MEDGEN:482122", "NCIT:C172639", "OMIM:614327", "Orphanet:289539", "SCTID:765057007", "UMLS:C3280492"]}
{"category": ["biolink:Disease"], "description": "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.", "id": "MONDO:0013693", "name": "Inflammatory skin and bowel disease, neonatal, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADAM17 neonatal inflammatory skin and bowel disease", "inflammatory skin and bowel disease, neonatal, 1", "inflammatory skin and bowel disease, neonatal, type 1", "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17"], "xref": ["DOID:0061192", "GARD:0018429", "MEDGEN:482131", "OMIM:614328", "UMLS:C3280501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013694", "name": "Intellectual disability, autosomal recessive 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT31", "intellectual disability, autosomal recessive 31"], "xref": ["DOID:0081191", "GARD:0022553", "MEDGEN:482153", "OMIM:614329", "UMLS:C3280523"]}
{"category": ["biolink:Disease"], "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.", "id": "MONDO:0013695", "name": "Colorectal cancer, hereditary nonpolyposis, type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["TGFBR2 hereditary nonpolyposis colon cancer", "colorectal cancer, hereditary nonpolyposis, type 6", "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2"], "xref": ["DOID:0070273", "GARD:0015789", "MEDGEN:348732", "MESH:C566039", "OMIM:614331", "UMLS:C1860896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013696", "name": "Chromosome 2p16.3 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 2P16.3 deletion syndrome", "schizophrenia, susceptibility to, 17"], "xref": ["GARD:0024940", "MEDGEN:814824", "OMIM:614332", "UMLS:C3808494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013697", "name": "Intellectual disability, autosomal recessive 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT29", "intellectual disability, autosomal recessive 29"], "xref": ["DOID:0081192", "GARD:0022554", "MEDGEN:482155", "OMIM:614333", "UMLS:C3280525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013698", "name": "Arthrogryposis, distal, type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["arthrogryposis, distal, type 1B"], "xref": ["DOID:0111598", "GARD:0015790", "MEDGEN:482156", "OMIM:614335", "UMLS:C3280526"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.", "id": "MONDO:0013699", "name": "Lynch syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["PMS2 hereditary nonpolyposis colon cancer", "PMS2-related Lynch syndrome", "colorectal cancer, hereditary nonpolyposis, type 4", "hereditary nonpolyposis colon cancer caused by mutation in PMS2"], "xref": ["DOID:0070275", "GARD:0015791", "MEDGEN:325005", "MESH:C563971", "OMIM:614337", "UMLS:C1838333"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.", "id": "MONDO:0013700", "name": "Pancreatic triacylglycerol lipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pancreatic triglyceride lipase deficiency"], "xref": ["GARD:0017401", "ICD9:277.89", "MEDGEN:482157", "NANDO:2200912", "NCIT:C129030", "OMIM:614338", "Orphanet:309031", "SCTID:78960005", "UMLS:C3280527", "icd11.foundation:349070670"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.", "id": "MONDO:0013702", "name": "Intellectual disability, autosomal recessive 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LINS1 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1", "intellectual developmental disorder, autosomal recessive 27", "intellectual disability, autosomal recessive 27", "intellectual disability, autosomal recessive type 27", "mental retardation, autosomal recessive type 27"], "xref": ["DOID:0081193", "GARD:0022555", "MEDGEN:482168", "OMIM:614340", "UMLS:C3280538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013703", "name": "Intellectual disability, autosomal recessive 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT33", "intellectual disability, autosomal recessive 33"], "xref": ["DOID:0081194", "GARD:0022556", "MEDGEN:482169", "OMIM:614341", "UMLS:C3280539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013704", "name": "Intellectual disability, autosomal recessive 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT30", "intellectual disability, autosomal recessive 30"], "xref": ["DOID:0081195", "GARD:0022557", "MEDGEN:482170", "OMIM:614342", "UMLS:C3280540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013705", "name": "Intellectual disability, autosomal recessive 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT19", "intellectual disability, autosomal recessive 19"], "xref": ["GARD:0022558", "MEDGEN:482171", "OMIM:614343", "UMLS:C3280541"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013706", "name": "Intellectual disability, autosomal recessive 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT23", "intellectual disability, autosomal recessive 23"], "xref": ["DOID:0081196", "GARD:0022559", "MEDGEN:482172", "OMIM:614344", "UMLS:C3280542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013707", "name": "Intellectual disability, autosomal recessive 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT24", "intellectual disability, autosomal recessive 24"], "xref": ["DOID:0081197", "GARD:0022560", "MEDGEN:482173", "OMIM:614345", "UMLS:C3280543"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013708", "name": "Intellectual disability, autosomal recessive 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT25", "intellectual disability, autosomal recessive 25"], "xref": ["DOID:0081198", "GARD:0022561", "MEDGEN:482174", "OMIM:614346", "UMLS:C3280544"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013709", "name": "Intellectual disability, autosomal recessive 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT28", "intellectual disability, autosomal recessive 28"], "xref": ["DOID:0081199", "GARD:0022562", "MEDGEN:482175", "OMIM:614347", "UMLS:C3280545"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.", "id": "MONDO:0013710", "name": "Lynch syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MSH6 hereditary nonpolyposis colon cancer", "MSH6-related Lynch Syndrome", "colorectal cancer, hereditary nonpolyposis, type 5", "hereditary nonpolyposis colon cancer caused by mutation in MSH6"], "xref": ["DOID:0070272", "GARD:0015792", "MEDGEN:318886", "MESH:C563456", "OMIM:614350", "UMLS:C1833477"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013711", "name": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNMHH", "peripheral neuropathy-myopathy-hoarseness-deafness syndrome"], "xref": ["GARD:0017639", "MEDGEN:482186", "OMIM:614369", "Orphanet:397744", "UMLS:C3280556"]}
{"category": ["biolink:Disease"], "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.", "id": "MONDO:0013712", "name": "Surfactant metabolism dysfunction, pulmonary, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSF2RB hereditary pulmonary alveolar proteinosis", "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB", "surfactant metabolism dysfunction, pulmonary, 5", "surfactant metabolism dysfunction, pulmonary, type 5"], "xref": ["GARD:0015793", "MEDGEN:482204", "OMIM:614370", "UMLS:C3280574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013714", "name": "Mannose-binding lectin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["mannose-binding lectin deficiency", "mannose-binding protein deficiency"], "xref": ["GARD:0024941", "ICD9:279.19", "MEDGEN:482216", "MESH:C563602", "OMIM:614372", "SCTID:703538003", "UMLS:C3280586"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.", "id": "MONDO:0013715", "name": "Amyotrophic lateral sclerosis type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS16", "SIGMAR1 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis caused by mutation in SIGMAR1"], "xref": ["DOID:0060207", "GARD:0015794", "MEDGEN:482217", "OMIM:614373", "UMLS:C3280587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013716", "name": "Aortic aneurysm, familial abdominal, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAA4", "aortic aneurysm, familial abdominal, 4"], "xref": ["GARD:0016494", "MEDGEN:482227", "OMIM:614375", "UMLS:C3280597"]}
{"category": ["biolink:Disease"], "description": "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.", "id": "MONDO:0013717", "name": "Asphyxiating thoracic dystrophy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATD5", "Jeune syndrome caused by mutation in WDR19", "SRTD5", "WDR19 Jeune syndrome", "asphyxiating thoracic dystrophy 5", "asphyxiating thoracic dystrophy type 5", "short-rib thoracic dysplasia 5 with or without polydactyly"], "xref": ["DOID:0110089", "GARD:0015795", "MEDGEN:482228", "OMIM:614376", "UMLS:C3280598"]}
{"category": ["biolink:Disease"], "description": "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.", "id": "MONDO:0013718", "name": "Nephronophthisis 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP13", "nephronophthisis 13", "nephronophthisis type 13"], "xref": ["DOID:0111121", "GARD:0024942", "MEDGEN:482242", "OMIM:614377", "UMLS:C3280612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013719", "name": "Cranioectodermal dysplasia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cranioectodermal dysplasia 4", "cranioectodermal dysplasia type 4"], "xref": ["DOID:0080806", "GARD:0015796", "MEDGEN:482246", "OMIM:614378", "UMLS:C3280616"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.", "id": "MONDO:0013720", "name": "Complement component 4b deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C4B classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C4B", "complement component 4b deficiency"], "xref": ["DOID:0060298", "GARD:0015797", "MEDGEN:1830476", "OMIM:614379", "UMLS:C5779962"]}
{"category": ["biolink:Disease"], "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.", "id": "MONDO:0013721", "name": "Complement component 4a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["C4A classic complement early component deficiency", "classic complement early component deficiency caused by mutation in C4A", "complement component 4a deficiency"], "xref": ["DOID:0060297", "GARD:0015798", "MEDGEN:482272", "MESH:C565167", "OMIM:614380", "UMLS:C3280642"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.", "id": "MONDO:0013722", "name": "Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HLD8", "POLR3B leukodystrophy", "endosteal sclerosis-cerebellar hypoplasia syndrome", "leukodystrophy caused by mutation in POLR3B"], "xref": ["DOID:0060797", "GARD:0018624", "MEDGEN:482274", "MESH:C535353", "OMIM:213002", "OMIM:614381", "Orphanet:85186", "UMLS:C3280644"]}
{"category": ["biolink:Disease"], "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.", "id": "MONDO:0013725", "name": "Colorectal cancer, hereditary nonpolyposis, type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MLH3 hereditary nonpolyposis colon cancer", "colorectal cancer, hereditary nonpolyposis, type 7", "hereditary nonpolyposis colon cancer caused by mutation in MLH3"], "xref": ["DOID:0070276", "GARD:0015799", "MEDGEN:346893", "MESH:C565777", "OMIM:614385", "UMLS:C1858380"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013726", "name": "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect", "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "lethal encephalopathy due to mitochondrial and peroxisomal fission defect"], "xref": ["DOID:0070347", "GARD:0017509", "MEDGEN:482290", "OMIM:614388", "Orphanet:330050", "UMLS:C3280660"]}
{"category": ["biolink:Disease"], "description": "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.", "id": "MONDO:0013730", "name": "Graft versus host disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GVH", "GVHD", "GvHD", "disease, graft-versus-host", "disease, graft-vs-host", "diseases, graft-versus-host", "diseases, graft-vs-host", "graft versus host disease", "graft vs host disease", "graft vs. host disease", "graft-versus-host disease", "graft-versus-host-disease", "graft-vs-host disease", "runt disease"], "xref": ["DOID:0081267", "GARD:0016642", "ICD10CM:D89.81", "ICD9:279.50", "MEDGEN:9082", "MESH:D006086", "MedDRA:10018651", "NCIT:C3063", "NORD:1203", "Orphanet:39812", "SCTID:234646005", "UMLS:C0018133", "icd11.foundation:437372167"]}
{"category": ["biolink:Disease"], "description": "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.", "id": "MONDO:0013731", "name": "Megf10-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEGF10 myopathy", "MEGF10-related myopathy", "congenital myopathy 10A, severe variant"], "xref": ["DOID:0111333", "GARD:0012199", "MEDGEN:482309", "OMIM:614399", "Orphanet:439212", "UMLS:C3280679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013732", "name": "Glucocorticoid therapy, response to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["glucocorticoid therapy, response to"], "xref": ["MEDGEN:482319", "OMIM:614400", "UMLS:C3280689"]}
{"category": ["biolink:Disease"], "description": "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.", "id": "MONDO:0013734", "name": "Microphthalmia, syndromic 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VAX1 syndromic microphthalmia", "microphthalmia, syndromic 11", "microphthalmia, syndromic type 11", "syndromic microphthalmia caused by mutation in VAX1"], "xref": ["DOID:0111804", "GARD:0024943", "MEDGEN:765991", "OMIM:614402", "UMLS:C3553077"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.", "id": "MONDO:0013735", "name": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"], "xref": ["GARD:0017502", "MEDGEN:482322", "OMIM:614407", "Orphanet:329332", "UMLS:C3280692"]}
{"category": ["biolink:Disease"], "description": "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.", "id": "MONDO:0013737", "name": "Hereditary spastic paraplegia 46", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GBA2 autosomal recessive complex spastic paraplegia", "SPG46", "autosomal recessive complex spastic paraplegia caused by mutation in GBA2", "autosomal recessive spastic paraplegia type 46", "hereditary spastic paraplegia 46", "hereditary spastic paraplegia type 46"], "xref": ["DOID:0110798", "GARD:0017476", "MEDGEN:473687", "OMIM:614409", "Orphanet:320391", "SCTID:723822009", "UMLS:C2828721"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.", "id": "MONDO:0013738", "name": "Autosomal recessive nonsyndromic hearing loss 96", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110538", "GARD:0022642", "MEDGEN:854865", "OMIM:614414", "UMLS:C3888337"]}
{"category": ["biolink:Disease"], "description": "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.", "id": "MONDO:0013739", "name": "Chilblain lupus 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Chilblain lupus type 2", "SAMHD1 chilblain lupus", "chilblain lupus 2", "chilblain lupus caused by mutation in SAMHD1"], "xref": ["GARD:0018494", "MEDGEN:482351", "OMIM:614415", "UMLS:C3280721"]}
{"category": ["biolink:Disease"], "description": "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.", "id": "MONDO:0013740", "name": "Lethal occipital encephalocele-skeletal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"], "xref": ["GARD:0017348", "MEDGEN:482359", "OMIM:614416", "Orphanet:293925", "UMLS:C3280729"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.", "id": "MONDO:0013741", "name": "Familial temporal lobe epilepsy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETL5", "epilepsy, familial temporal lobe, type 5", "familial temporal lobe epilepsy type 5"], "xref": ["DOID:0060752", "GARD:0018280", "MEDGEN:482360", "OMIM:614417", "UMLS:C3280730"]}
{"category": ["biolink:Disease"], "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.", "id": "MONDO:0013743", "name": "Autosomal systemic lupus erythematosus type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLEB16", "systemic lupus erythematosus 16", "systemic lupus erythematosus related to DNASE1L3", "systemic lupus erythematosus type 16"], "xref": ["GARD:0017368", "MEDGEN:482372", "OMIM:614420", "Orphanet:300345", "UMLS:C3280742"]}
{"category": ["biolink:Disease"], "description": "A cataract that has material basis in variation in the region 12q24.2-q24.3.", "id": "MONDO:0013744", "name": "Cataract 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT37", "cataract 37", "cataract 37, autosomal dominant", "cataract type 37"], "xref": ["DOID:0110252", "GARD:0015800", "MEDGEN:482388", "OMIM:614422", "UMLS:C3280758"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.", "id": "MONDO:0013745", "name": "Joubert syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS14", "Joubert syndrome 14", "Joubert syndrome caused by mutation in TMEM237", "Joubert syndrome type 14", "TMEM237 Joubert syndrome"], "xref": ["DOID:0110983", "GARD:0015801", "MEDGEN:482396", "OMIM:614424", "UMLS:C3280766"]}
{"category": ["biolink:Disease"], "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.", "id": "MONDO:0013746", "name": "Ventricular septal defect 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GATA4 ventricular septal defect (disease)", "ventricular septal defect (disease) caused by mutation in GATA4", "ventricular septal defect 1", "ventricular septal defect type 1"], "xref": ["MEDGEN:482407", "OMIM:614429", "UMLS:C3280777"]}
{"category": ["biolink:Disease"], "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.", "id": "MONDO:0013747", "name": "Atrioventricular septal defect 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GATA4 atrioventricular septal defect", "atrioventricular septal defect 4", "atrioventricular septal defect caused by mutation in GATA4", "atrioventricular septal defect type 4"], "xref": ["GARD:0024944", "MEDGEN:482411", "OMIM:614430", "UMLS:C3280781"]}
{"category": ["biolink:Disease"], "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.", "id": "MONDO:0013748", "name": "Ventricular septal defect 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CITED2 ventricular septal defect (disease)", "ventricular septal defect (disease) caused by mutation in CITED2", "ventricular septal defect 2", "ventricular septal defect type 2"], "xref": ["MEDGEN:482413", "OMIM:614431", "UMLS:C3280783"]}
{"category": ["biolink:Disease"], "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.", "id": "MONDO:0013749", "name": "Ventricular septal defect 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NKX2-5 ventricular septal defect (disease)", "ventricular septal defect (disease) caused by mutation in NKX2-5", "ventricular septal defect 3", "ventricular septal defect type 3"], "xref": ["MEDGEN:482415", "OMIM:614432", "UMLS:C3280785"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.", "id": "MONDO:0013750", "name": "Atrial septal defect 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD8", "CITED2 atrial heart septal defect", "atrial heart septal defect caused by mutation in CITED2", "atrial heart septal defect type 8", "atrial septal defect 8", "atrial septal defect type 8"], "xref": ["DOID:0110113", "GARD:0024945", "MEDGEN:482420", "OMIM:614433", "UMLS:C3280790"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.", "id": "MONDO:0013751", "name": "Cutis laxa, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FBLN5 autosomal dominant cutis laxa", "autosomal dominant cutis laxa caused by mutation in FBLN5", "cutis laxa, autosomal dominant 2", "cutis laxa, autosomal dominant type 2"], "xref": ["DOID:0070136", "GARD:0015802", "MEDGEN:482424", "OMIM:614434", "UMLS:C3280794"]}
{"category": ["biolink:Disease"], "description": "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.", "id": "MONDO:0013752", "name": "Hypoplastic left heart syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NKX2-5 hypoplastic left heart syndrome", "hypoplastic left heart syndrome 2", "hypoplastic left heart syndrome caused by mutation in NKX2-5", "hypoplastic left heart syndrome type 2"], "xref": ["GARD:0015803", "MEDGEN:482425", "MedDRA:10021076", "OMIM:614435", "UMLS:C3280795"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.", "id": "MONDO:0013753", "name": "Charcot-marie-tooth disease axonal type 2p", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2P", "Charcot-Marie-Tooth disease caused by mutation in LRSAM1", "Charcot-Marie-Tooth disease, axonal, type 2P", "Charcot-Marie-Tooth neuropathy, type 2P", "Charcot-Marie-Toothe disease, axonal, type 2P", "LRSAM1 Charcot-Marie-Tooth disease", "autosomal dominant Charcot-Marie-Tooth disease type 2G"], "xref": ["DOID:0110169", "GARD:0012435", "MEDGEN:482427", "OMIM:608591", "OMIM:614436", "Orphanet:300319", "Orphanet:99941", "SCTID:719511005", "UMLS:C3280797"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.", "id": "MONDO:0013754", "name": "Cutis laxa, autosomal recessive, type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCL1B"], "xref": ["DOID:0070133", "GARD:0015804", "MEDGEN:482428", "OMIM:614437", "UMLS:C3280798"]}
{"category": ["biolink:Disease"], "description": "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.", "id": "MONDO:0013755", "name": "Pycr1-related de barsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ARCL3B", "PYCR1 de Barsy syndrome", "PYCR1 deficiency", "de Barsy syndrome caused by mutation in PYCR1", "pyrroline-5-carboxylate reductase 1 deficiency"], "xref": ["DOID:0070138", "GARD:0017340", "MEDGEN:482429", "OMIM:614438", "Orphanet:293633", "UMLS:C3280799"]}
{"category": ["biolink:Disease"], "description": "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.", "id": "MONDO:0013756", "name": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SLCO2A1 primary hypertrophic osteoarthropathy", "hypertrophic osteoarthropathy, primary, autosomal recessive 2", "hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2", "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1"], "xref": ["GARD:0015805", "MEDGEN:482430", "OMIM:614441", "UMLS:C3280800"]}
{"category": ["biolink:Disease"], "description": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.", "id": "MONDO:0013757", "name": "Congenital nongoitrous hypothyroidism 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CHNG6", "THRA hypothyroidism, congenital, nongoitrous", "hypothyroidism, congenital, nongoitrous caused by mutation in THRA", "hypothyroidism, congenital, nongoitrous, 6", "hypothyroidism, congenital, nongoitrous, type 6"], "xref": ["DOID:0070128", "GARD:0024946", "MEDGEN:482447", "OMIM:614450", "UMLS:C3280817"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.", "id": "MONDO:0013758", "name": "Charcot-marie-tooth disease dominant intermediate e", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTDIE", "Charcot-Marie-Tooth disease dominant intermediate E", "Charcot-Marie-Tooth disease dominant intermediate type E", "Charcot-Marie-Tooth disease, dominant Intermediate type E", "Charcot-Marie-Tooth disease-nephropathy syndrome", "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis", "autosomal dominant intermediate Charcot-Marie-Tooth disease type E"], "xref": ["DOID:0110205", "GARD:0012011", "MEDGEN:928336", "OMIM:614455", "Orphanet:93114", "SCTID:722294004", "UMLS:C4302667"]}
{"category": ["biolink:Disease"], "description": "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.", "id": "MONDO:0013759", "name": "Melanoma, cutaneous malignant, susceptibility to, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["MITF-related melanoma and renal cell carcinoma predisposition syndrome", "melanoma, cutaneous malignant, susceptibility to, 8", "melanoma, cutaneous malignant, susceptibility to, type 8"], "xref": ["GARD:0027852", "MEDGEN:463554", "OMIM:614456", "Orphanet:293822", "UMLS:C3152204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013760", "name": "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome"], "xref": ["GARD:0017515", "MEDGEN:482486", "OMIM:614457", "Orphanet:352333", "UMLS:C3280856"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013761", "name": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood encephalopathy due to thiamine pyrophosphokinase deficiency"], "xref": ["GARD:0013571", "MEDGEN:482496", "OMIM:614458", "Orphanet:293955", "UMLS:C3280866"]}
{"category": ["biolink:Disease"], "description": "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0013762", "name": "Lipoic acid synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012678", "MEDGEN:482517", "OMIM:614462", "Orphanet:401859", "UMLS:C3280887"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.", "id": "MONDO:0013763", "name": "Joubert syndrome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP41 Joubert syndrome", "JBTS15", "Joubert syndrome 15", "Joubert syndrome caused by mutation in CEP41", "Joubert syndrome type 15"], "xref": ["DOID:0110984", "GARD:0015806", "MEDGEN:482527", "OMIM:614464", "UMLS:C3280897"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.", "id": "MONDO:0013764", "name": "Joubert syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS16", "Joubert syndrome 16", "Joubert syndrome caused by mutation in TMEM138", "Joubert syndrome type 16", "TMEM138 Joubert syndrome"], "xref": ["DOID:0110985", "GARD:0015807", "MEDGEN:482536", "OMIM:614465", "UMLS:C3280906"]}
{"category": ["biolink:Disease"], "description": "A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.", "id": "MONDO:0013766", "name": "Familial cold autoinflammatory syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FACU", "PLAID", "PLCG2 familial cold autoinflammatory syndrome", "familial atypical cold urticaria", "familial cold autoinflammatory syndrome 3", "familial cold autoinflammatory syndrome caused by mutation in PLCG2", "familial cold autoinflammatory syndrome type 3", "familial cold urticaria with common variable immunodeficiency", "plaid"], "xref": ["DOID:0090064", "GARD:0017369", "MEDGEN:482544", "NANDO:2200455", "OMIM:614468", "Orphanet:300359", "UMLS:C3280914"]}
{"category": ["biolink:Disease"], "description": "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.", "id": "MONDO:0013767", "name": "Autoimmune lymphoproliferative syndrome type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALPS4", "NRAS autoimmune lymphoproliferative syndrome", "RALD", "RAS-associated autoimmune leukoproliferative disease", "RAS-associated autoimmune leukoproliferative disorder", "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic", "autoimmune lymphoproliferative syndrome caused by mutation in NRAS"], "xref": ["DOID:0110117", "GARD:0017262", "MEDGEN:382434", "OMIM:614470", "Orphanet:268114", "SCTID:723508002", "UMLS:C2674723"]}
{"category": ["biolink:Disease"], "description": "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.", "id": "MONDO:0013768", "name": "Arterial calcification, generalized, of infancy, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCC6 arterial calcification of infancy", "arterial calcification of infancy caused by mutation in ABCC6", "arterial calcification, generalized, of infancy, 2", "arterial calcification, generalized, of infancy, type 2"], "xref": ["GARD:0024947", "MEDGEN:477791", "OMIM:614473", "UMLS:C3276161"]}
{"category": ["biolink:Disease"], "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.", "id": "MONDO:0013769", "name": "Atrioventricular septal defect 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GATA6 atrioventricular septal defect", "atrioventricular septal defect 5", "atrioventricular septal defect caused by mutation in GATA6", "atrioventricular septal defect type 5"], "xref": ["GARD:0024948", "MEDGEN:482569", "OMIM:614474", "UMLS:C3280939"]}
{"category": ["biolink:Disease"], "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.", "id": "MONDO:0013770", "name": "Atrial septal defect 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASD9", "GATA6 atrial heart septal defect", "atrial heart septal defect caused by mutation in GATA6", "atrial heart septal defect type 9", "atrial septal defect 9", "atrial septal defect type 9"], "xref": ["DOID:0110114", "GARD:0024949", "MEDGEN:482573", "OMIM:614475", "UMLS:C3280943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013771", "name": "Transient infantile hypertriglyceridemia and hepatosteatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["transient infantile hypertriglyceridemia and fatty liver", "transient infantile hypertriglyceridemia and hepatosteatosis"], "xref": ["GARD:0017363", "MEDGEN:482583", "OMIM:614480", "Orphanet:300293", "UMLS:C3280953"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013772", "name": "Huppke-brendel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Huppke-Brendel syndrome", "acetyl CoA transporter deficiency", "congenital cataract-deafness-severe developmental delay syndrome", "congenital cataracts, hearing loss, and neurodegeneration", "lethal neurodegenerative disorder due to copper transport defect"], "xref": ["GARD:0017365", "MEDGEN:1659966", "OMIM:614482", "Orphanet:300313", "UMLS:C4751114"]}
{"category": ["biolink:Disease"], "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.", "id": "MONDO:0013773", "name": "Brain small vessel disease 2a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL4A2 porencephaly", "brain small vessel disease 2", "porencephaly 2", "porencephaly type 2"], "xref": ["DOID:0112314", "GARD:0015808", "MEDGEN:482600", "OMIM:614483", "UMLS:C3280970"]}
{"category": ["biolink:Disease"], "description": "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.", "id": "MONDO:0013774", "name": "Trigonocephaly 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FREM1 isolated trigonocephaly", "isolated trigonocephaly caused by mutation in FREM1", "trigonocephaly 2", "trigonocephaly type 2"], "xref": ["GARD:0018559", "MEDGEN:482604", "OMIM:614485", "UMLS:C3280974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013775", "name": "Thrombomodulin-related bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["THBD-related bleeding disorder", "THBD-related coagulopathy", "thrombomodulin-related coagulopathy", "thrombophilia 12 due to thrombomodulin defect"], "xref": ["DOID:0111908", "GARD:0017726", "MEDGEN:482606", "MESH:C566057", "OMIM:614486", "Orphanet:436169", "UMLS:C3280976"]}
{"category": ["biolink:Disease"], "description": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.", "id": "MONDO:0013776", "name": "Spastic ataxia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AFG3L2 autosomal recessive spastic ataxia", "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome", "AFG3L2-related spastic ataxia-neuropathy syndrome", "SPAX5", "autosomal recessive spastic ataxia caused by mutation in AFG3L2", "autosomal recessive spastic ataxia type 5", "spastic ataxia type 5"], "xref": ["DOID:0050944", "GARD:0017409", "MEDGEN:482607", "OMIM:614487", "Orphanet:313772", "UMLS:C3280977"]}
{"category": ["biolink:Disease"], "description": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.", "id": "MONDO:0013777", "name": "Pseudohypoaldosteronism type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHA2B", "WNK4 pseudohypoaldosteronism type 2", "pseudohypoaldosteronism type 2 caused by mutation in WNK4"], "xref": ["GARD:0016776", "MEDGEN:374457", "MESH:C564161", "OMIM:614491", "Orphanet:88939", "UMLS:C1840390", "icd11.foundation:853594829"]}
{"category": ["biolink:Disease"], "description": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.", "id": "MONDO:0013778", "name": "Pseudohypoaldosteronism type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PHA2C", "WNK1 pseudohypoaldosteronism type 2", "pseudohypoaldosteronism type 2 caused by mutation in WNK1"], "xref": ["GARD:0016777", "MEDGEN:327089", "MESH:C564162", "OMIM:614492", "Orphanet:88940", "UMLS:C1840391", "icd11.foundation:1052840113"]}
{"category": ["biolink:Disease"], "description": "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.", "id": "MONDO:0013779", "name": "Wiskott-aldrich syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WIPF1 Wiskott-Aldrich syndrome", "Wiskott-Aldrich syndrome 2", "Wiskott-Aldrich syndrome caused by mutation in WIPF1", "Wiskott-Aldrich syndrome type 2"], "xref": ["GARD:0015809", "MEDGEN:482631", "NCIT:C176820", "OMIM:277970", "OMIM:614493", "UMLS:C3281001"]}
{"category": ["biolink:Disease"], "description": "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.", "id": "MONDO:0013780", "name": "Retinitis pigmentosa 63", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP63", "retinitis pigmentosa 63", "retinitis pigmentosa type 63"], "xref": ["DOID:0110385", "GARD:0015810", "MEDGEN:482632", "OMIM:614494", "UMLS:C3281002"]}
{"category": ["biolink:Disease"], "description": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.", "id": "MONDO:0013781", "name": "Pseudohypoaldosteronism type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["KLHL3 pseudohypoaldosteronism type 2", "PHA2D", "pseudohypoaldosteronism type 2 caused by mutation in KLHL3"], "xref": ["GARD:0017372", "MEDGEN:483335", "OMIM:614495", "Orphanet:300525", "UMLS:C3469605", "icd11.foundation:1679339588"]}
{"category": ["biolink:Disease"], "description": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.", "id": "MONDO:0013782", "name": "Pseudohypoaldosteronism type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CUL3 pseudohypoaldosteronism type 2", "Cul3 pseudohypoaldosteronism type 2", "PHA2E", "pseudohypoaldosteronism type 2 caused by mutation in CUL3", "pseudohypoaldosteronism type 2 caused by mutation in Cul3"], "xref": ["GARD:0017373", "MEDGEN:483336", "OMIM:614496", "Orphanet:300530", "UMLS:C3469606", "icd11.foundation:1263491925"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.", "id": "MONDO:0013783", "name": "Microphthalmia, isolated, with coloboma 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ABCB6 microphthalmia, isolated, with coloboma", "microphthalmia, isolated, with coloboma 7", "microphthalmia, isolated, with coloboma caused by mutation in ABCB6", "microphthalmia, isolated, with coloboma type 7"], "xref": ["GARD:0015811", "MEDGEN:482657", "OMIM:614497", "UMLS:C3281027"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene.", "id": "MONDO:0013784", "name": "Neonatal-onset encephalopathy with rigidity and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lethal neonatal rigidity-multifocal seizure syndrome", "lethal neonatal spasticity-epileptic encephalopathy syndrome", "neonatal-onset encephalopathy with rigidity and seizures"], "xref": ["GARD:0017718", "MEDGEN:482659", "OMIM:614498", "Orphanet:435845", "UMLS:C3281029"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.", "id": "MONDO:0013785", "name": "Intellectual disability, autosomal recessive 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRADD autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD", "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly", "intellectual disability, autosomal recessive 34", "intellectual disability, autosomal recessive type 34", "mental retardation, autosomal recessive type 34"], "xref": ["DOID:0081200", "GARD:0022563", "MEDGEN:482674", "NCIT:C153179", "OMIM:614499", "UMLS:C3281044"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.", "id": "MONDO:0013786", "name": "Cone-rod dystrophy 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["C8orf37 cone-rod dystrophy", "CORD16", "cone-rod dystrophy 16", "cone-rod dystrophy caused by mutation in C8orf37", "cone-rod dystrophy type 16", "retinal dystrophy with early macular involvement"], "xref": ["DOID:0111022", "GARD:0015812", "MEDGEN:482675", "OMIM:614500", "UMLS:C3281045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013787", "name": "Psychomotor retardation, epilepsy, and craniofacial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures", "psychomotor retardation, epilepsy, and craniofacial dysmorphism"], "xref": ["MEDGEN:482685", "OMIM:614501", "UMLS:C3281055"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.", "id": "MONDO:0013788", "name": "Usher syndrome type 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HARS Usher syndrome", "USH3B", "Usher syndrome caused by mutation in HARS"], "xref": ["DOID:0110842", "GARD:0015813", "MEDGEN:482696", "OMIM:614504", "UMLS:C3281066"]}
{"category": ["biolink:Disease"], "description": "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).", "id": "MONDO:0013789", "name": "Ddost-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Ir", "CDG-Ir", "CDG1R", "DDOST-CDG", "DDOST-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Ir", "congenital disorder of glycosylation type 1r", "congenital disorder of glycosylation type Ir"], "xref": ["DOID:0080569", "GARD:0012398", "MEDGEN:482714", "OMIM:614507", "Orphanet:300536", "SCTID:733083006", "UMLS:C3281084"]}
{"category": ["biolink:Disease"], "description": "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.", "id": "MONDO:0013790", "name": "Mirror movements 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAD51 familial congenital mirror movements", "familial congenital mirror movements caused by mutation in RAD51", "mirror movements 2", "mirror movements type 2"], "xref": ["DOID:0070637", "GARD:0015814", "MEDGEN:482719", "OMIM:614508", "UMLS:C3281089"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013791", "name": "Thrombophilia due to protein s deficiency, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["thrombophilia 5 due to protein S deficiency, autosomal recessive", "thrombophilia due to protein S deficiency, autosomal recessive"], "xref": ["GARD:0018569", "MEDGEN:482722", "OMIM:614514", "UMLS:C3281092"]}
{"category": ["biolink:Disease"], "description": "A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.", "id": "MONDO:0013792", "name": "Intracerebral hemorrhage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["stroke, hemorrhagic"], "xref": ["EFO:0005669", "ICD9:431", "MEDGEN:423648", "MESH:D002543", "SCTID:274100004", "UMLS:C2937358", "icd11.foundation:873092535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013793", "name": "Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency"], "xref": ["MEDGEN:482736", "OMIM:614520", "UMLS:C3281106"]}
{"category": ["biolink:Disease"], "description": "Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.", "id": "MONDO:0013794", "name": "Thrombocythemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JAK2 familial thrombocytosis", "familial thrombocytosis caused by mutation in JAK2", "thrombocythemia 3", "thrombocythemia 3, autosomal dominant, somatic mutation", "thrombocythemia type 3"], "xref": ["GARD:0024950", "MEDGEN:482755", "OMIM:614521", "UMLS:C3281125"]}
{"category": ["biolink:Disease"], "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.", "id": "MONDO:0013795", "name": "Fibrochondrogenesis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL11A2 fibrochondrogenesis", "fibrochondrogenesis 2", "fibrochondrogenesis caused by mutation in COL11A2", "fibrochondrogenesis type 2"], "xref": ["DOID:0080673", "GARD:0015815", "MEDGEN:482758", "OMIM:614524", "UMLS:C3281128"]}
{"category": ["biolink:Disease"], "description": "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.", "id": "MONDO:0013796", "name": "Chromosome 17q12 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17q12 microduplication syndrome", "chromosome 17q12 duplication syndrome", "dup(17)(q12)", "trisomy 17q12"], "xref": ["DOID:0060433", "GARD:0013296", "MEDGEN:482767", "OMIM:614526", "Orphanet:261272", "SCTID:764435003", "UMLS:C3281137"]}
{"category": ["biolink:Disease"], "description": "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.", "id": "MONDO:0013797", "name": "Chromosome 17q12 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["17q12 microdeletion syndrome", "Del(17)(q12)", "chromosome 17q12 deletion syndrome", "monosomy 17q12"], "xref": ["DOID:0060404", "GARD:0013297", "MEDGEN:482768", "OMIM:614527", "Orphanet:261265", "SCTID:733519008", "UMLS:C3281138"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013798", "name": "Chromosome 16q22 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chromosome 16q22 deletion syndrome", "chromosome 16q22 deletion syndrome, isolated cases"], "xref": ["DOID:0060401", "GARD:0024951", "MEDGEN:482782", "OMIM:614541", "Orphanet:658540", "UMLS:C3281152"]}
{"category": ["biolink:Disease"], "description": "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.", "id": "MONDO:0013800", "name": "Ehlers-danlos syndrome, kyphoscoliotic type, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["EDS with progressive kyphoscoliosis, myopathy, and deafness", "EDS with progressive kyphoscoliosis, myopathy, and hearing loss", "EDS, kyphoscoliotic and hearing loss type", "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness", "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss", "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type", "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type", "Ehlers-Danlos syndrome, kyphoscoliotic type, 2"], "xref": ["GARD:0017361", "MEDGEN:482790", "OMIM:614557", "Orphanet:300179", "SCTID:720859009", "UMLS:C3281160"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.", "id": "MONDO:0013801", "name": "Developmental and epileptic encephalopathy, 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE13", "EIEE13", "SCN8A early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 13", "early infantile epileptic encephalopathy caused by mutation in SCN8A", "early infantile epileptic encephalopathy-13", "epileptic encephalopathy, early infantile, 13", "epileptic encephalopathy, early infantile, type 13"], "xref": ["DOID:0080445", "GARD:0013085", "MEDGEN:482821", "OMIM:614558", "SCTID:765170001", "UMLS:C3281191"]}
{"category": ["biolink:Disease"], "description": "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.", "id": "MONDO:0013802", "name": "Infantile cerebellar-retinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["infantile cerebellar-retinal degeneration"], "xref": ["DOID:0050883", "GARD:0013264", "MEDGEN:482822", "OMIM:614559", "Orphanet:313850", "UMLS:C3281192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013803", "name": "Leukoencephalopathy with calcifications and cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LCC", "leukoencephalopathy, brain calcifications, and cysts"], "xref": ["GARD:0010732", "MEDGEN:482830", "MESH:C000598644", "OMIM:614561", "Orphanet:542310", "UMLS:C3281200"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.", "id": "MONDO:0013805", "name": "Intellectual disability, autosomal dominant 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["DYNC1H1 autosomal dominant non-syndromic intellectual disability", "MRD13", "autosomal dominant intellectual disability 13", "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1", "intellectual disability, autosomal dominant 13", "intellectual disability, autosomal dominant 13, with neuronal migration defects", "intellectual disability, autosomal dominant type 13", "mental retardation, autosomal dominant type 13"], "xref": ["DOID:0061144", "DOID:0070043", "GARD:0016462", "MEDGEN:482832", "OMIM:614563", "UMLS:C3281202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013806", "name": "Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"], "xref": ["GARD:0017413", "MEDGEN:482833", "OMIM:614564", "Orphanet:313846", "UMLS:C3281203"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.", "id": "MONDO:0013807", "name": "Congenital stationary night blindness 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1E", "GPR179 congenital stationary night blindness", "congenital stationary night blindness 1E", "congenital stationary night blindness caused by mutation in GPR179", "congenital stationary night blindness type 1E", "night blindness, congenital stationary (complete), 1E, autosomal recessive"], "xref": ["DOID:0110869", "GARD:0015816", "MEDGEN:482845", "OMIM:614565", "UMLS:C3281215"]}
{"category": ["biolink:Disease"], "description": "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.", "id": "MONDO:0013808", "name": "Maffucci syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Chondroplasia angiomatosis", "Dyschondroplasia and cavernous hemangioma", "Maffucci syndrome", "Maffucci type enchondromatosis", "Maffucci's anomalad", "chondrodysplasia with hemangioma", "enchondromatosis with hemangiomata", "hemangiomata with Dyschondroplasia"], "xref": ["DOID:0060221", "GARD:0006958", "MEDGEN:7437", "NCIT:C3213", "NORD:1393", "OMIM:614569", "Orphanet:163634", "SCTID:46041001", "UMLS:C0024454", "icd11.foundation:548780091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013810", "name": "Cog6-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIL", "CDG-IIL", "CDG2L", "COG6-CDG", "COG6-congenital disorder of glycosylation", "congenital disorder of glycosylation type 2l", "congenital disorder of glycosylation type IIL"], "xref": ["DOID:0070264", "GARD:0010944", "MEDGEN:766144", "OMIM:614576", "Orphanet:464443", "UMLS:C3553230"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.", "id": "MONDO:0013811", "name": "Combined oxidative phosphorylation defect type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD9", "MRPL3 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in MRPL3", "combined oxidative phosphorylation deficiency type 9"], "xref": ["DOID:0111472", "GARD:0017453", "MEDGEN:1634481", "OMIM:614582", "Orphanet:319509", "SCTID:763209008", "UMLS:C4706315"]}
{"category": ["biolink:Disease"], "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.", "id": "MONDO:0013812", "name": "Baraitser-winter syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTG1 Baraitser-Winter cerebrofrontofacial syndrome", "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1", "Baraitser-Winter syndrome type 2", "Baraitser-winter syndrome 2"], "xref": ["DOID:0081113", "GARD:0015817", "MEDGEN:482865", "OMIM:614583", "UMLS:C3281235"]}
{"category": ["biolink:Disease"], "description": "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.", "id": "MONDO:0013813", "name": "Dystonia 21", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT21", "dystonia 21", "dystonia type 21"], "xref": ["DOID:0090046", "GARD:0017383", "MEDGEN:482866", "OMIM:614588", "Orphanet:306734", "UMLS:C3281236"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013815", "name": "Bent bone dysplasia syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FGFR2-related bent bone dysplasia", "perinatal lethal bent bone dysplasia"], "xref": ["DOID:0060992", "GARD:0010965", "MEDGEN:482877", "OMIM:614592", "Orphanet:313855", "UMLS:C3281247"]}
{"category": ["biolink:Disease"], "description": "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.", "id": "MONDO:0013817", "name": "Preeclampsia/eclampsia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORIN preeclampsia", "Corin preeclampsia", "Preeclampsia/eclampsia type 5", "preeclampsia caused by mutation in CORIN", "preeclampsia caused by mutation in Corin", "preeclampsia/eclampsia 5"], "xref": ["GARD:0018393", "MEDGEN:482918", "OMIM:614595", "UMLS:C3281288"]}
{"category": ["biolink:Disease"], "description": "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.", "id": "MONDO:0013818", "name": "Trichohepatoenteric syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SKIV2L tricho-hepato-enteric syndrome", "Trichohepatoenteric syndrome 2", "Trichohepatoenteric syndrome type 2", "tricho-hepato-enteric syndrome caused by mutation in SKIV2L"], "xref": ["DOID:0111416", "GARD:0015819", "MEDGEN:482919", "OMIM:614602", "UMLS:C3281289"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.", "id": "MONDO:0013819", "name": "Intellectual disability, autosomal dominant 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARID1A Coffin-Siris syndrome", "ARID1A-related BAFopathy", "CSS2", "Coffin-Siris syndrome caused by mutation in ARID1A", "MRD14", "autosomal dominant intellectual disability 14", "intellectual disability, autosomal dominant 14", "intellectual disability, autosomal dominant type 14", "mental retardation, autosomal dominant type 14"], "xref": ["DOID:0070044", "GARD:0015820", "MEDGEN:766161", "OMIM:614607", "UMLS:C3553247"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.", "id": "MONDO:0013820", "name": "Intellectual disability, autosomal dominant 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFFIN-SIRIS syndrome 3", "CSS3", "Coffin-Siris syndrome caused by mutation in SMARCB1", "MRD15", "SMARCB1 Coffin-Siris syndrome", "SMARCB1-related BAFopathy", "autosomal dominant intellectual disability 15", "intellectual disability, autosomal dominant 15", "intellectual disability, autosomal dominant type 15", "mental retardation, autosomal dominant type 15"], "xref": ["DOID:0070045", "GARD:0015821", "MEDGEN:766162", "OMIM:614608", "UMLS:C3553248"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.", "id": "MONDO:0013821", "name": "Intellectual disability, autosomal dominant 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFFIN-SIRIS syndrome 4", "CSS4", "Coffin-Siris syndrome caused by mutation in SMARCA4", "MRD16", "SMARCA4 Coffin-Siris syndrome", "SMARCA4-related BAFopathy", "autosomal dominant intellectual disability 16", "intellectual disability, autosomal dominant 16", "intellectual disability, autosomal dominant type 16", "mental retardation, autosomal dominant type 16"], "xref": ["DOID:0070046", "GARD:0015822", "MEDGEN:766163", "OMIM:614609", "UMLS:C3553249"]}
{"category": ["biolink:Disease"], "description": "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.", "id": "MONDO:0013822", "name": "Acrodysostosis 2 with or without hormone resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDE4D acrodysostosis", "acrodysostosis 2 with or without hormone resistance", "acrodysostosis 2, with or without hormone resistance", "acrodysostosis caused by mutation in PDE4D"], "xref": ["GARD:0015823", "MEDGEN:766164", "OMIM:614613", "UMLS:C3553250"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.", "id": "MONDO:0013823", "name": "Autosomal dominant nonsyndromic hearing loss 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110574", "GARD:0018136", "MEDGEN:482927", "OMIM:614614", "UMLS:C3281297"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.", "id": "MONDO:0013824", "name": "Joubert syndrome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPLANE1 Joubert syndrome", "JBTS17", "Joubert syndrome 17", "Joubert syndrome caused by mutation in CPLANE1", "Joubert syndrome type 17"], "xref": ["DOID:0110986", "GARD:0015824", "MEDGEN:766178", "NCIT:C175702", "OMIM:614615", "UMLS:C3553264"]}
{"category": ["biolink:Disease"], "description": "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.", "id": "MONDO:0013825", "name": "Congenital diarrhea 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GUCY2C congenital diarrhea", "GUCY2C congenital diarrhoea", "congenital diarrhea caused by mutation in GUCY2C", "congenital diarrhea type 6", "congenital diarrhoea caused by mutation in GUCY2C", "congenital diarrhoea type 6", "diarrhea type 6", "diarrhoea type 6"], "xref": ["DOID:0060780", "GARD:0017417", "MEDGEN:766184", "OMIM:614616", "Orphanet:314373", "UMLS:C3553270"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.", "id": "MONDO:0013826", "name": "Autosomal recessive nonsyndromic hearing loss 86", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110532", "GARD:0022643", "MEDGEN:760543", "OMIM:614617", "UMLS:C2829265"]}
{"category": ["biolink:Disease"], "description": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.", "id": "MONDO:0013827", "name": "Hyperekplexia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HKPX3", "SLC6A5 hereditary hyperekplexia", "hereditary hyperekplexia caused by mutation in SLC6A5", "hyperekplexia 3", "hyperekplexia type 3"], "xref": ["DOID:0060698", "GARD:0015825", "MEDGEN:766202", "OMIM:614618", "UMLS:C3553288"]}
{"category": ["biolink:Disease"], "description": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.", "id": "MONDO:0013828", "name": "Hyperekplexia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GLRB hereditary hyperekplexia", "HKPX2", "hereditary hyperekplexia caused by mutation in GLRB", "hyperekplexia 2", "hyperekplexia type 2"], "xref": ["DOID:0060697", "GARD:0015826", "MEDGEN:766205", "OMIM:614619", "UMLS:C3553291"]}
{"category": ["biolink:Disease"], "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.", "id": "MONDO:0013829", "name": "Uv-sensitive syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERCC8 UV-sensitive syndrome", "UV-sensitive syndrome 2", "UV-sensitive syndrome caused by mutation in ERCC8", "UV-sensitive syndrome type 2"], "xref": ["GARD:0015827", "MEDGEN:766212", "NCIT:C173110", "OMIM:614621", "UMLS:C3553298"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013830", "name": "Keratoconus 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KTCN5", "keratoconus 5"], "xref": ["GARD:0024952", "MEDGEN:766216", "OMIM:614622", "UMLS:C3553302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013831", "name": "Keratoconus 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KTCN6", "keratoconus 6"], "xref": ["GARD:0024953", "MEDGEN:766220", "OMIM:614623", "UMLS:C3553306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013832", "name": "Keratoconus 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KTCN8", "keratoconus 8"], "xref": ["GARD:0024954", "MEDGEN:766221", "OMIM:614628", "UMLS:C3553307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013833", "name": "Keratoconus 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KTCN7", "keratoconus 7"], "xref": ["GARD:0024955", "MEDGEN:766222", "OMIM:614629", "UMLS:C3553308"]}
{"category": ["biolink:Disease"], "description": "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.", "id": "MONDO:0013834", "name": "Uv-sensitive syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["UV-sensitive syndrome 3", "UV-sensitive syndrome caused by mutation in UVSSA", "UV-sensitive syndrome type 3", "UVSSA UV-sensitive syndrome"], "xref": ["GARD:0015828", "MEDGEN:766242", "NCIT:C173107", "OMIM:614640", "UMLS:C3553328"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.", "id": "MONDO:0013835", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ISPD muscular dystrophy-dystroglycanopathy, type A", "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD"], "xref": ["DOID:0111234", "GARD:0015829", "MEDGEN:766244", "OMIM:614643", "UMLS:C3553330"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013836", "name": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coenzyme Q10 deficiency, primary, type 6"], "xref": ["DOID:0070243", "GARD:0017295", "MEDGEN:766263", "OMIM:614650", "Orphanet:280406", "UMLS:C3553349"]}
{"category": ["biolink:Disease"], "description": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.", "id": "MONDO:0013837", "name": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coenzyme Q10 deficiency, primary, type 2", "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"], "xref": ["DOID:0070239", "GARD:0017230", "MEDGEN:766268", "OMIM:614651", "Orphanet:254898", "UMLS:C3553354"]}
{"category": ["biolink:Disease"], "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.", "id": "MONDO:0013838", "name": "Coenzyme q10 deficiency, primary, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDSS2 coenzyme Q10 deficiency", "coenzyme Q10 deficiency caused by mutation in PDSS2", "coenzyme Q10 deficiency, primary, 3", "coenzyme Q10 deficiency, primary, type 3"], "xref": ["DOID:0070240", "GARD:0018379", "MEDGEN:766272", "OMIM:614652", "UMLS:C3553358"]}
{"category": ["biolink:Disease"], "description": "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.", "id": "MONDO:0013839", "name": "Hereditary sensory and autonomic neuropathy type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DST hereditary sensory and autonomic neuropathy", "HSAN6", "familial dysautonomia with contractures", "hereditary sensory and autonomic neuropathy caused by mutation in DST", "hereditary sensory and autonomic neuropathy type VI"], "xref": ["DOID:0070151", "GARD:0012987", "MEDGEN:761278", "OMIM:614653", "Orphanet:314381", "UMLS:C3539003"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.", "id": "MONDO:0013840", "name": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coenzyme Q10 deficiency, primary, type 5"], "xref": ["DOID:0070242", "GARD:0017470", "MEDGEN:766288", "OMIM:614654", "Orphanet:319678", "UMLS:C3553374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013841", "name": "Stuttering, familial persistent, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["STUT3", "stuttering, familial persistent, 3"], "xref": ["MEDGEN:766295", "OMIM:614655", "UMLS:C3553381"]}
{"category": ["biolink:Disease"], "description": "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.", "id": "MONDO:0013842", "name": "Cortisone reductase deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["11-beta-hydroxysteroid dehydrogenase type 1 deficiency", "CORTRD2", "HSD11B1 cortisone reductase deficiency", "cortisone reductase deficiency 2", "cortisone reductase deficiency caused by mutation in HSD11B1", "cortisone reductase deficiency type 2"], "xref": ["DOID:0090140", "GARD:0015830", "MEDGEN:766296", "NCIT:C131084", "OMIM:614662", "UMLS:C3553382"]}
{"category": ["biolink:Disease"], "description": "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.", "id": "MONDO:0013843", "name": "Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GUCY2C meconium ileus", "meconium ileus caused by mutation in GUCY2C", "meconium ileus due to guanylate cyclase 2C deficiency"], "xref": ["GARD:0017418", "ICD9:777.1", "MEDGEN:1390359", "OMIM:614665", "Orphanet:314376", "SCTID:733447005", "UMLS:C4518781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013844", "name": "Stuttering, familial persistent, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["STUT4", "stuttering, familial persistent, 4"], "xref": ["MEDGEN:766317", "OMIM:614668", "UMLS:C3553403"]}
{"category": ["biolink:Disease"], "description": "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.", "id": "MONDO:0013845", "name": "Auriculocondylar syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Auriculocondylar syndrome 2", "Auriculocondylar syndrome type 2", "PLCB4 auriculocondylar syndrome", "auriculocondylar syndrome caused by mutation in PLCB4"], "xref": ["GARD:0015831", "MEDGEN:766318", "OMIM:614669", "UMLS:C3553404"]}
{"category": ["biolink:Disease"], "description": "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.", "id": "MONDO:0013847", "name": "Chromosome 16p11.2 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:predisposition", "mondo:rare"], "synonym": ["chromosome 16p11.2 duplication syndrome", "proximal 16p11.2 microduplication syndrome", "proximal dup(16)(p11.2)", "proximal trisomy 16p11.2"], "xref": ["DOID:0060430", "GARD:0012388", "MEDGEN:766321", "OMIM:614671", "Orphanet:370079", "SCTID:765142003", "UMLS:C3553407"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.", "id": "MONDO:0013848", "name": "Dilated cardiomyopathy 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2B", "GATAD1 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 2B", "dilated cardiomyopathy 2B", "dilated cardiomyopathy type 2B", "familial isolated dilated cardiomyopathy caused by mutation in GATAD1"], "xref": ["DOID:0110441", "GARD:0015832", "MEDGEN:766323", "OMIM:614672", "UMLS:C3553409"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.", "id": "MONDO:0013849", "name": "Microcephaly 8, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP135 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CEP135", "microcephaly 8, primary, autosomal recessive"], "xref": ["DOID:0070282", "GARD:0015833", "MEDGEN:766328", "OMIM:614673", "UMLS:C3553414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013851", "name": "Autosomal dominant aplasia and myelodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant aplastic anaemia and myelodysplasia", "autosomal dominant aplastic anemia and myelodysplasia", "bone marrow failure syndrome type 1"], "xref": ["GARD:0017420", "MEDGEN:814883", "NANDO:1200301", "OMIM:614675", "Orphanet:314399", "UMLS:C3808553"]}
{"category": ["biolink:Disease"], "description": "A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.", "id": "MONDO:0013852", "name": "Hypertrophic cardiomyopathy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH21", "cardiomyopathy, hypertrophic, 21", "hypertrophic cardiomyopathy type 21"], "xref": ["DOID:0110311", "GARD:0024956", "MEDGEN:766356", "OMIM:614676", "UMLS:C3553442"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.", "id": "MONDO:0013853", "name": "Pontocerebellar hypoplasia type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EXOSC3 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3", "pontocerebellar hypoplasia type 1B"], "xref": ["DOID:0060266", "GARD:0015834", "MEDGEN:766363", "OMIM:614678", "UMLS:C3553449"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.", "id": "MONDO:0013854", "name": "Primary ciliary dyskinesia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC103 primary ciliary dyskinesia", "CILD17", "ciliary dyskinesia, primary, type 17", "primary ciliary dyskinesia 17", "primary ciliary dyskinesia caused by mutation in CCDC103", "primary ciliary dyskinesia type 17"], "xref": ["DOID:0110621", "GARD:0015835", "MEDGEN:762261", "OMIM:614679", "UMLS:C3542550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013856", "name": "Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes", "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes"], "xref": ["MEDGEN:766379", "OMIM:614684", "UMLS:C3553465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013857", "name": "Alar cleft, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alar cleft, isolated"], "xref": ["MEDGEN:766390", "OMIM:614687", "UMLS:C3553476"]}
{"category": ["biolink:Disease"], "description": "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.", "id": "MONDO:0013858", "name": "Pontine tegmental cap dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PTCD", "pontine tegmental cap dysplasia"], "xref": ["GARD:0010919", "MEDGEN:762040", "OMIM:614688", "Orphanet:269229", "UMLS:C3541340"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.", "id": "MONDO:0013859", "name": "Cataract 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGK early-onset non-syndromic cataract", "CATC5", "CTRCT38", "cataract 38", "cataract 38, autosomal recessive", "cataract type 38", "early-onset non-syndromic cataract caused by mutation in AGK"], "xref": ["DOID:0110245", "GARD:0024957", "MEDGEN:766408", "OMIM:614691", "UMLS:C3553494"]}
{"category": ["biolink:Disease"], "description": "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.", "id": "MONDO:0013860", "name": "Idiopathic membranous glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["membranous nephropathy - Idiopathic"], "xref": ["GARD:0009180", "MEDGEN:39226", "NCIT:C123060", "OMIM:614692", "Orphanet:97560", "SCTID:722119002", "UMLS:C0086445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013862", "name": "Immunodeficiency, common variable, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 7", "immunodeficiency, common variable, type 7"], "xref": ["DOID:0081150", "GARD:0015836", "MEDGEN:762276", "NANDO:2200801", "OMIM:614699", "Orphanet:696894", "UMLS:C3542922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013863", "name": "Combined immunodeficiency due to lrba deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to LRBA deficiency", "combined immunodeficiency due to LRBA deficiency"], "xref": ["DOID:0081151", "GARD:0013565", "MEDGEN:766426", "NCIT:C17680", "OMIM:614700", "Orphanet:445018", "UMLS:C3553512"]}
{"category": ["biolink:Disease"], "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.", "id": "MONDO:0013864", "name": "Cornelia de lange syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cornelia De Lange syndrome type 4", "Cornelia de Lange syndrome 4", "Cornelia de Lange syndrome caused by mutation in RAD21", "RAD21 Cornelia de Lange syndrome"], "xref": ["DOID:0080508", "GARD:0015837", "MEDGEN:766431", "OMIM:614701", "UMLS:C3553517"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.", "id": "MONDO:0013865", "name": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD10", "MTO1 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 10", "combined oxidative phosphorylation deficiency caused by mutation in MTO1", "combined oxidative phosphorylation deficiency type 10", "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"], "xref": ["DOID:0111480", "GARD:0017428", "MEDGEN:1664257", "OMIM:614702", "Orphanet:314637", "UMLS:C4749921"]}
{"category": ["biolink:Disease"], "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.", "id": "MONDO:0013866", "name": "Neuronal ceroid lipofuscinosis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN11", "GRN neuronal ceroid lipofuscinosis", "Grn neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, type 11", "neuronal ceroid lipofuscinosis caused by mutation in GRN", "neuronal ceroid lipofuscinosis caused by mutation in Grn", "neuronal ceroid lipofuscinosis type 11"], "xref": ["DOID:0110732", "GARD:0017426", "MEDGEN:761331", "OMIM:614706", "Orphanet:314629", "UMLS:C3539123"]}
{"category": ["biolink:Disease"], "description": "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.", "id": "MONDO:0013867", "name": "Brown-vialetto-van laere syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BVVLS2", "Brown-Vialetto-Van Laere syndrome type 2", "Brown-Vialetto-van Laere syndrome 2", "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2", "SLC52A2 Brown-Vialetto-van Laere syndrome"], "xref": ["DOID:0080786", "GARD:0012861", "HGNC:30224", "MEDGEN:766452", "NCIT:C183529", "OMIM:614707", "Orphanet:572550", "UMLS:C3553538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013868", "name": "Porokeratosis 7, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POROK7", "porokeratosis 7, disseminated superficial actinic type", "porokeratosis 7, multiple types"], "xref": ["GARD:0015838", "MEDGEN:766463", "OMIM:614714", "UMLS:C3553549"]}
{"category": ["biolink:Disease"], "description": "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.", "id": "MONDO:0013869", "name": "Adenine phosphoribosyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2,8-dihydroxyadenine urolithiasis", "2,8-dihydroxyadeninuria disease", "APRT deficiency", "adenine phosphoribosyltransferase deficiency"], "xref": ["DOID:0060350", "GARD:0000546", "MEDGEN:82772", "MESH:C538228", "NANDO:2200587", "NCIT:C121564", "OMIM:614723", "Orphanet:976", "SCTID:124274002", "UMLS:C0268120", "icd11.foundation:753682703"]}
{"category": ["biolink:Disease"], "description": "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).", "id": "MONDO:0013870", "name": "Tmem165-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIk", "CDG-IIk", "CDG2K", "TMEM165-CDG", "TMEM165-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIk", "congenital disorder of glycosylation type 2k", "congenital disorder of glycosylation type IIk"], "xref": ["DOID:0070263", "GARD:0012413", "MEDGEN:766485", "OMIM:614727", "Orphanet:314667", "SCTID:732252005", "UMLS:C3553571"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.", "id": "MONDO:0013871", "name": "Seckel syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP63 Seckel syndrome", "SCKL6", "Seckel syndrome 6", "Seckel syndrome caused by mutation in CEP63", "Seckel syndrome type 6"], "xref": ["DOID:0070006", "GARD:0024958", "MEDGEN:766496", "OMIM:614728", "UMLS:C3553582"]}
{"category": ["biolink:Disease"], "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.", "id": "MONDO:0013872", "name": "Prostate cancer, hereditary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ELAC2 familial prostate cancer", "familial prostate cancer caused by mutation in ELAC2", "prostate cancer, hereditary, 2", "prostate cancer, hereditary, 2, susceptibility to", "prostate cancer, hereditary, type 2"], "xref": ["GARD:0015839", "MEDGEN:761328", "OMIM:614731", "UMLS:C3539120"]}
{"category": ["biolink:Disease"], "description": "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.", "id": "MONDO:0013873", "name": "Image syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMAGe syndrome", "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"], "xref": ["DOID:0050885", "GARD:0012312", "ICD9:759.89", "MEDGEN:337364", "NANDO:1200406", "NCIT:C130988", "OMIM:614732", "Orphanet:85173", "SCTID:702384004", "UMLS:C1846009", "icd11.foundation:1064803315"]}
{"category": ["biolink:Disease"], "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.", "id": "MONDO:0013874", "name": "Glucocorticoid deficiency 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NNT familial glucocorticoid deficiency", "familial glucocorticoid deficiency caused by mutation in NNT", "glucocorticoid deficiency 4", "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency", "glucocorticoid deficiency type 4"], "xref": ["DOID:0061243", "GARD:0015840", "MEDGEN:766501", "NCIT:C131452", "OMIM:614736", "UMLS:C3553587"]}
{"category": ["biolink:Disease"], "description": "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.", "id": "MONDO:0013875", "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria caused by mutation in SERAC1", "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome", "MEGDEL", "MEGDEL syndrome", "MGCA6", "SERAC1 3-methylglutaconic aciduria"], "xref": ["DOID:0110001", "GARD:0012963", "MEDGEN:873604", "OMIM:614739", "Orphanet:352328", "SCTID:711409002", "UMLS:C4040739"]}
{"category": ["biolink:Disease"], "description": "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.", "id": "MONDO:0013876", "name": "Basal cell carcinoma, susceptibility to, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["TP53 skin basal cell carcinoma", "basal cell carcinoma 7", "basal cell carcinoma, susceptibility to, 7", "basal cell carcinoma, susceptibility to, type 7", "skin basal cell carcinoma caused by mutation in TP53"], "xref": ["GARD:0027853", "MEDGEN:766520", "OMIM:614740", "UMLS:C3553606"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.", "id": "MONDO:0013877", "name": "Mitochondrial pyruvate carrier deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial pyruvate carrier deficiency"], "xref": ["DOID:0080363", "GARD:0017771", "MEDGEN:766521", "OMIM:614741", "Orphanet:447784", "UMLS:C3553607"]}
{"category": ["biolink:Disease"], "description": "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.", "id": "MONDO:0013878", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related", "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1"], "xref": ["EFO:1001501", "GARD:0024959", "MEDGEN:766531", "OMIM:614742", "UMLS:C3553617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013879", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2"], "xref": ["GARD:0024960", "MEDGEN:766536", "OMIM:614743", "UMLS:C3553622"]}
{"category": ["biolink:Disease"], "description": "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.", "id": "MONDO:0013880", "name": "Facial paresis, hereditary congenital, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome", "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1", "facial paresis, hereditary congenital, 3", "facial paresis, hereditary congenital, type 3"], "xref": ["GARD:0018437", "MEDGEN:766539", "OMIM:614744", "UMLS:C3553625"]}
{"category": ["biolink:Disease"], "description": "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.", "id": "MONDO:0013881", "name": "Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JEB with respiratory and renal involvement", "JEB-RR", "congenital ILNEB syndrome", "congenital NEP syndrome", "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome", "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome", "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome"], "xref": ["GARD:0017377", "MEDGEN:1388385", "OMIM:614748", "Orphanet:306504", "UMLS:C4518785"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.", "id": "MONDO:0013882", "name": "Hyperphosphatasia with intellectual disability syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIGO hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 2", "hyperphosphatasia with intellectual disability syndrome type 2", "hyperphosphatasia with mental retardation syndrome 2", "hyperphosphatasia with mental retardation syndrome type 2", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO"], "xref": ["DOID:0070434", "GARD:0018351", "MEDGEN:766551", "OMIM:614749", "UMLS:C3553637"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.", "id": "MONDO:0013883", "name": "Congenital myasthenic syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS13", "CMSTA2", "DPAGT1 congenital myasthenic syndromes with glycosylation defect", "congenital myasthenic syndrome type 13", "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1", "myasthenic syndrome, congenital, 13, with tubular aggregates", "myasthenic syndrome, congenital, type 13"], "xref": ["DOID:0110676", "GARD:0018452", "MEDGEN:766559", "OMIM:614750", "UMLS:C3553645"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.", "id": "MONDO:0013884", "name": "Neuronopathy, distal hereditary motor, type 5b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["REEP1 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in REEP1"], "xref": ["DOID:0111205", "GARD:0018267", "MEDGEN:766570", "OMIM:614751", "UMLS:C3553656"]}
{"category": ["biolink:Disease"], "description": "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.", "id": "MONDO:0013885", "name": "Malan overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sotos syndrome 2", "Sotos syndrome type 2"], "xref": ["DOID:0112102", "GARD:0013811", "MEDGEN:766574", "OMIM:614753", "Orphanet:420179", "SCTID:763795006", "UMLS:C3553660"]}
{"category": ["biolink:Disease"], "description": "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).", "id": "MONDO:0013886", "name": "Cerebellar dysfunction with variable cognitive and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAMTA1-related disorder", "CANPMR", "cerebellar ataxia, nonprogressive, with intellectual disability", "cerebellar ataxia, nonprogressive, with mental retardation", "cerebellar dysfunction with variable cognitive and behavioral abnormalities", "non-progressive cerebellar ataxia with intellectual disability", "nonprogressive cerebellar ataxia with intellectual disability"], "xref": ["DOID:0050998", "GARD:0017429", "MEDGEN:766575", "OMIM:614756", "Orphanet:314647", "SCTID:723441001", "UMLS:C3553661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013887", "name": "Heterotaxy, visceral, 6, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["heterotaxy, visceral, 6, autosomal", "heterotaxy, visceral, 6, autosomal recessive"], "xref": ["DOID:0051020", "GARD:0024961", "MEDGEN:766590", "OMIM:614779", "UMLS:C3553676"]}
{"category": ["biolink:Disease"], "description": "Any essential tremor in which the cause of the disease is a mutation in the FUS gene.", "id": "MONDO:0013888", "name": "Tremor, hereditary essential, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FUS essential tremor", "essential tremor caused by mutation in FUS", "essential tremor, hereditary, 4", "tremor, hereditary essential, 4", "tremor, hereditary essential, type 4"], "xref": ["DOID:0111431", "MEDGEN:761337", "OMIM:614782", "UMLS:C3539195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013889", "name": "Short stature-optic atrophy-pelger-huët anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["short stature with optic atrophy and Pelger-Huët anomaly syndrome", "short stature, optic nerve atrophy, and Pelger-Huet anomaly", "short stature-optic atrophy-Pelger-Huët anomaly syndrome", "soph syndrome"], "xref": ["GARD:0010945", "MEDGEN:762020", "OMIM:614800", "Orphanet:391677", "UMLS:C3541319"]}
{"category": ["biolink:Disease"], "description": "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.", "id": "MONDO:0013890", "name": "Congenital myopathy with internal nuclei and atypical cores", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNM4", "centronuclear myopathy type 4", "myopathy, centronuclear, type 4"], "xref": ["DOID:0111224", "GARD:0017443", "MEDGEN:1642424", "OMIM:614807", "Orphanet:319160", "SCTID:764945007", "UMLS:C4707232"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.", "id": "MONDO:0013891", "name": "Amyotrophic lateral sclerosis type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALS18", "PFN1 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 18", "amyotrophic lateral sclerosis caused by mutation in PFN1", "amyotrophic lateral sclerosis type 18"], "xref": ["DOID:0060209", "GARD:0015841", "MEDGEN:766633", "OMIM:614808", "UMLS:C3553719"]}
{"category": ["biolink:Disease"], "description": "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.", "id": "MONDO:0013892", "name": "C3 glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["complement-mediated membranoproliferative glomerulonephritis", "nephropathy due to CFHR5 deficiency"], "xref": ["GARD:0016487", "MEDGEN:884569", "NCIT:C123043", "OMIM:614809", "Orphanet:329931", "UMLS:C4055342"]}
{"category": ["biolink:Disease"], "description": "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.", "id": "MONDO:0013894", "name": "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["soft syndrome"], "xref": ["GARD:0017419", "MEDGEN:762199", "OMIM:614813", "Orphanet:314394", "UMLS:C3542022"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.", "id": "MONDO:0013895", "name": "Adams-oliver syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Adams-Oliver syndrome 3", "Adams-Oliver syndrome caused by mutation in RBPJ", "Adams-Oliver syndrome type 3", "RBPJ Adams-Oliver syndrome"], "xref": ["DOID:0061179", "GARD:0015842", "MEDGEN:766662", "OMIM:614814", "UMLS:C3553748"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.", "id": "MONDO:0013896", "name": "Joubert syndrome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS18", "Joubert syndrome 18", "Joubert syndrome caused by mutation in TCTN3", "Joubert syndrome type 18", "TCTN3 Joubert syndrome"], "xref": ["DOID:0110987", "GARD:0015843", "MEDGEN:766672", "OMIM:614815", "UMLS:C3553758"]}
{"category": ["biolink:Disease"], "description": "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.", "id": "MONDO:0013897", "name": "Loeys-dietz syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Loeys-Dietz syndrome 4", "Loeys-Dietz syndrome caused by mutation in TGFB2", "Loeys-Dietz syndrome type 4", "TGFB2 Loeys-Dietz syndrome"], "xref": ["DOID:0070233", "GARD:0010588", "MEDGEN:766676", "OMIM:614816", "UMLS:C3553762"]}
{"category": ["biolink:Disease"], "description": "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.", "id": "MONDO:0013898", "name": "Karyomegalic interstitial nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAN1 interstitial nephritis", "KIN", "KMIN", "interstitial nephritis caused by mutation in FAN1", "karyomegalic interstitial nephritis", "kin", "systemic karyomegaly"], "xref": ["DOID:0060911", "GARD:0011003", "MEDGEN:766688", "NCIT:C173626", "OMIM:614817", "Orphanet:401996", "UMLS:C3553774"]}
{"category": ["biolink:Disease"], "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.", "id": "MONDO:0013899", "name": "Weill-marchesani syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LTBP2 Weill-Marchesani syndrome", "Weill-Marchesani syndrome 3", "Weill-Marchesani syndrome 3, recessive", "Weill-Marchesani syndrome caused by mutation in LTBP2", "Weill-Marchesani syndrome type 3"], "xref": ["DOID:0061275", "GARD:0015844", "MEDGEN:766699", "OMIM:614819", "UMLS:C3553785"]}
{"category": ["biolink:Disease"], "description": "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.", "id": "MONDO:0013900", "name": "Alternating hemiplegia of childhood 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATP1A3 alternating hemiplegia of childhood", "alternating hemiplegia of childhood 2", "alternating hemiplegia of childhood caused by mutation in ATP1A3", "alternating hemiplegia of childhood type 2"], "xref": ["GARD:0015845", "MEDGEN:766702", "OMIM:614820", "UMLS:C3553788"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.", "id": "MONDO:0013901", "name": "Spermatogenic failure 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SEPT12 azoospermia", "azoospermia caused by mutation in SEPT12", "spermatogenic failure 10", "spermatogenic failure type 10"], "xref": ["DOID:0070178", "GARD:0018401", "MEDGEN:766707", "OMIM:614822", "UMLS:C3553793"]}
{"category": ["biolink:Disease"], "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.", "id": "MONDO:0013902", "name": "Aortic valve disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMAD6 aortic valve disease", "aortic valve disease 2", "aortic valve disease caused by mutation in SMAD6", "aortic valve disease type 2"], "xref": ["DOID:0080334", "GARD:0018471", "MEDGEN:762200", "OMIM:614823", "UMLS:C3542024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013903", "name": "Nystagmus 7, congenital, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NYS7"], "xref": ["DOID:0111791", "MEDGEN:766715", "OMIM:614826", "UMLS:C3553801"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.", "id": "MONDO:0013904", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["POMGNT2 muscular dystrophy-dystroglycanopathy, type A", "muscle-eye-brain-POMGNT2 related", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8", "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2"], "xref": ["DOID:0111231", "GARD:0015846", "MEDGEN:766727", "OMIM:614830", "UMLS:C3553813"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.", "id": "MONDO:0013905", "name": "Autosomal recessive spinocerebellar ataxia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome", "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome", "SCAR13", "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1", "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1", "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency", "autosomal recessive spinocerebellar ataxia 13", "autosomal recessive spinocerebellar ataxia type 13", "spinocerebellar ataxia, autosomal recessive type 13"], "xref": ["DOID:0080062", "GARD:0017481", "MEDGEN:766730", "OMIM:614831", "Orphanet:324262", "UMLS:C3553816"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.", "id": "MONDO:0013906", "name": "Amelogenesis imperfecta hypomaturation type 2a4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AI2A4", "ODAPH amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in ODAPH", "amelogenesis imperfecta, type IIA4"], "xref": ["DOID:0110062", "GARD:0015847", "MEDGEN:766744", "OMIM:614832", "UMLS:C3553830"]}
{"category": ["biolink:Disease"], "description": "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0013907", "name": "Bilateral generalized polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["bilateral generalized polymicrogyria", "microcephaly, short stature, and polymicrogyria with seizures"], "xref": ["DOID:0080920", "GARD:0010786", "MEDGEN:1684616", "Orphanet:208447", "UMLS:C5139324"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.", "id": "MONDO:0013910", "name": "Hypogonadotropic hypogonadism 8 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KISS1R hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 8 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in KISS1R"], "xref": ["DOID:0090074", "GARD:0015849", "MEDGEN:766755", "OMIM:614837", "UMLS:C3553841"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.", "id": "MONDO:0013911", "name": "Hypogonadotropic hypogonadism 9 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NSMF hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 9 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in NSMF"], "xref": ["DOID:0090085", "GARD:0015850", "MEDGEN:766756", "OMIM:614838", "UMLS:C3553842"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.", "id": "MONDO:0013912", "name": "Hypogonadotropic hypogonadism 10 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TAC3 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 10 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in TAC3"], "xref": ["DOID:0090089", "GARD:0018600", "MEDGEN:766757", "OMIM:614839", "UMLS:C3553843"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.", "id": "MONDO:0013913", "name": "Hypogonadotropic hypogonadism 11 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TACR3 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 11 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in TACR3"], "xref": ["DOID:0090071", "GARD:0015851", "MEDGEN:766758", "OMIM:614840", "UMLS:C3553844"]}
{"category": ["biolink:Disease"], "description": "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.", "id": "MONDO:0013914", "name": "Hypogonadotropic hypogonadism 12 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["eunuchoidism, familial hypogonadotropic", "hypogonadotropic hypogonadism 12 with or without anosmia"], "xref": ["DOID:0090072", "GARD:0000276", "MEDGEN:347328", "MESH:C535764", "OMIM:227200", "OMIM:614841", "UMLS:C1856897"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.", "id": "MONDO:0013915", "name": "Hypogonadotropic hypogonadism 13 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KISS1 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 13 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in KISS1"], "xref": ["DOID:0090073", "GARD:0018601", "MEDGEN:762090", "OMIM:614842", "UMLS:C3541462"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.", "id": "MONDO:0013916", "name": "Nephronophthisis 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPHP14", "ZNF423 nephronophthisis (disease)", "nephronophthisis (disease) caused by mutation in ZNF423", "nephronophthisis 14", "nephronophthisis type 14"], "xref": ["DOID:0111122", "GARD:0024962", "MEDGEN:761313", "OMIM:614844", "UMLS:C3539071"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.", "id": "MONDO:0013917", "name": "Nephronophthisis 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP164 nephronophthisis (disease)", "NPHP15", "nephronophthisis (disease) caused by mutation in CEP164", "nephronophthisis 15", "nephronophthisis type 15"], "xref": ["DOID:0111123", "GARD:0015852", "MEDGEN:762112", "OMIM:614845", "UMLS:C3541853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013918", "name": "Distal tetrasomy 15q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["distal tetrasomy type 15q", "tetrasomy 15(q25-qter)", "tetrasomy 15q26", "tetrasomy type 15Q26"], "xref": ["GARD:0017424", "MEDGEN:766772", "OMIM:614846", "Orphanet:314588", "UMLS:C3553858"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.", "id": "MONDO:0013922", "name": "Seckel syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NIN Seckel syndrome", "SCKL7", "Seckel syndrome 7", "Seckel syndrome caused by mutation in NIN", "Seckel syndrome type 7", "microcephalic primordial dwarfism, Dauber type"], "xref": ["DOID:0070011", "GARD:0017469", "MEDGEN:766784", "OMIM:614851", "Orphanet:319675", "UMLS:C3553870"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.", "id": "MONDO:0013923", "name": "Microcephaly 9, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP152 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CEP152", "microcephaly 9, primary, autosomal recessive"], "xref": ["DOID:0070292", "GARD:0015855", "MEDGEN:766800", "OMIM:614852", "UMLS:C3553886"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.", "id": "MONDO:0013924", "name": "Osteogenesis imperfecta type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BMP1 osteogenesis imperfecta", "OI13", "osteogenesis imperfecta caused by mutation in BMP1"], "xref": ["DOID:0110342", "GARD:0015856", "MEDGEN:766801", "OMIM:614856", "UMLS:C3553887"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013925", "name": "Methylmalonic acidemia with homocystinuria, type cblj", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["cblJ defects", "cobalamin J defect", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ", "methylmalonic aciduria with homocystinuria, type cblJ"], "xref": ["GARD:0012621", "MEDGEN:766829", "OMIM:614857", "Orphanet:369955", "UMLS:C3553915"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.", "id": "MONDO:0013926", "name": "Hypogonadotropic hypogonadism 14 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["WDR11 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 14 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in WDR11"], "xref": ["DOID:0090087", "GARD:0015857", "MEDGEN:761703", "OMIM:614858", "UMLS:C3540450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013927", "name": "Peroxisome biogenesis disorder 3a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 3A (Zellweger)"], "xref": ["DOID:0080478", "GARD:0015858", "MEDGEN:766843", "MESH:C566633", "NCIT:C155752", "OMIM:614859", "UMLS:C3553929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013928", "name": "Dystonia 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT23", "dystonia 23", "dystonia type 23"], "xref": ["DOID:0090051", "GARD:0017694", "MEDGEN:761274", "OMIM:614860", "Orphanet:420492", "UMLS:C3538999"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.", "id": "MONDO:0013929", "name": "Autosomal recessive nonsyndromic hearing loss 98", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 98"], "xref": ["DOID:0110540", "GARD:0022644", "MEDGEN:766846", "OMIM:614861", "UMLS:C3553932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013930", "name": "Peroxisome biogenesis disorder 4a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["classic peroxisome biogenesis disorder", "peroxisome biogenesis disorder 4A (Zellweger)"], "xref": ["DOID:0080479", "GARD:0015859", "MEDGEN:766850", "MESH:C563301", "NCIT:C155754", "OMIM:614862", "UMLS:C3553936"]}
{"category": ["biolink:Disease"], "description": "Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.", "id": "MONDO:0013931", "name": "Peroxisome biogenesis disorder 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PBD4B", "SCABD", "SCAR3", "autosomal recessive cerebellar ataxia-blindness-deafness syndrome", "autosomal recessive spinocerebellar ataxia type 3", "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome", "peroxisome biogenesis disorder 4B", "peroxisome biogenesis disorder type 4B", "spinocerebellar ataxia autosomal recessive 3", "spinocerebellar ataxia, autosomal recessive 3"], "xref": ["DOID:0081433", "DOID:0111612", "GARD:0015860", "MEDGEN:766851", "MESH:C537309", "NCIT:C155755", "OMIM:271250", "OMIM:614863", "Orphanet:95433", "UMLS:C3553937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013932", "name": "Peroxisome biogenesis disorder 5a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 5A (Zellweger)"], "xref": ["DOID:0080480", "GARD:0015861", "MEDGEN:766854", "NCIT:C155756", "OMIM:614866", "UMLS:C3553940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013933", "name": "Peroxisome biogenesis disorder 5b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 5B", "peroxisome biogenesis disorder type 5B"], "xref": ["DOID:0081434", "GARD:0015862", "MEDGEN:762202", "NCIT:C155757", "OMIM:614867", "UMLS:C3542026"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).", "id": "MONDO:0013934", "name": "Combined immunodeficiency due to stk4 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to STK4 deficiency", "MST1 deficiency", "STK4 deficiency", "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations", "TIIAC"], "xref": ["GARD:0017430", "MEDGEN:766857", "OMIM:614868", "Orphanet:314689", "UMLS:C3553943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013936", "name": "Peroxisome biogenesis disorder 6a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 6A (Zellweger)"], "xref": ["DOID:0080481", "GARD:0015864", "MEDGEN:766861", "MESH:C566422", "NCIT:C155758", "OMIM:614870", "UMLS:C3553947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013937", "name": "Peroxisome biogenesis disorder 6b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 6B", "peroxisome biogenesis disorder type 6B"], "xref": ["DOID:0081435", "GARD:0015865", "MEDGEN:766862", "NCIT:C155759", "OMIM:614871", "UMLS:C3553948"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013938", "name": "Peroxisome biogenesis disorder 7a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 7A (Zellweger)"], "xref": ["DOID:0080482", "GARD:0015866", "MEDGEN:854881", "OMIM:614872", "UMLS:C3888385"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013939", "name": "Peroxisome biogenesis disorder 7b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 7B", "peroxisome biogenesis disorder type 7B"], "xref": ["DOID:0081436", "GARD:0015867", "MEDGEN:766865", "NCIT:C155761", "OMIM:614873", "UMLS:C3553951"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.", "id": "MONDO:0013940", "name": "Primary ciliary dyskinesia 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD18", "DNAAF5 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 18", "primary ciliary dyskinesia caused by mutation in DNAAF5", "primary ciliary dyskinesia type 18"], "xref": ["DOID:0110604", "GARD:0015868", "MEDGEN:762331", "OMIM:614874", "UMLS:C3543825"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.", "id": "MONDO:0013941", "name": "Metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MC-HGA", "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria", "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria", "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria"], "xref": ["GARD:0016902", "MEDGEN:766872", "OMIM:614875", "Orphanet:99646", "UMLS:C3553958", "icd11.foundation:1777127218"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013942", "name": "Peroxisome biogenesis disorder 8a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 8A (Zellweger)"], "xref": ["DOID:0080483", "GARD:0015869", "MEDGEN:766873", "OMIM:614876", "UMLS:C3553959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013943", "name": "Peroxisome biogenesis disorder 8b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 8B", "peroxisome biogenesis disorder type 8B"], "xref": ["DOID:0081437", "GARD:0015870", "MEDGEN:766874", "NCIT:C155763", "OMIM:614877", "UMLS:C3553960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013944", "name": "Autoinflammation-plcg2-associated antibody deficiency-immune dysregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APLAID"], "xref": ["DOID:0070615", "GARD:0017486", "MEDGEN:766875", "NANDO:2200442", "NANDO:2200451", "OMIM:614878", "Orphanet:324530", "UMLS:C3553961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013945", "name": "Peroxisome biogenesis disorder 9b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 9B", "peroxisome biogenesis disorder type 9B"], "xref": ["DOID:0081438", "GARD:0015871", "MEDGEN:440765", "OMIM:614879", "UMLS:C2749346"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.", "id": "MONDO:0013946", "name": "Hypogonadotropic hypogonadism 15 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["HS6ST1 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 15 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in HS6ST1"], "xref": ["DOID:0090075", "GARD:0015872", "MEDGEN:766891", "OMIM:614880", "UMLS:C3553977"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive distal hereditary motor neuropathy caused by a variation in DNAJB2 gene, characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment.", "id": "MONDO:0013947", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNAJB2-related CMT2", "DSMA5", "autosomal recessive distal spinal muscular atrophy type 5", "dSMA5"], "xref": ["DOID:0111214", "GARD:0017421", "MEDGEN:1667915", "OMIM:614881", "Orphanet:443950", "UMLS:C4749918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013948", "name": "Peroxisome biogenesis disorder 10a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 10A (Zellweger)"], "xref": ["DOID:0080484", "GARD:0015873", "MEDGEN:766913", "OMIM:614882", "UMLS:C3553999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013949", "name": "Peroxisome biogenesis disorder 11a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 11A (Zellweger)"], "xref": ["DOID:0080485", "GARD:0015874", "MEDGEN:766914", "OMIM:614883", "UMLS:C3554000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013950", "name": "Peroxisome biogenesis disorder 11b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 11B", "peroxisome biogenesis disorder type 11B"], "xref": ["DOID:0081439", "GARD:0015875", "MEDGEN:766915", "OMIM:614885", "UMLS:C3554001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013951", "name": "Peroxisome biogenesis disorder 12a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 12A (Zellweger)"], "xref": ["DOID:0080486", "GARD:0015876", "MEDGEN:766916", "OMIM:614886", "UMLS:C3554002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013952", "name": "Peroxisome biogenesis disorder 13a (zellweger)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 13A (Zellweger)"], "xref": ["DOID:0080487", "GARD:0015877", "MEDGEN:766918", "MESH:C566624", "OMIM:614887", "UMLS:C3554004"]}
{"category": ["biolink:Disease"], "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.", "id": "MONDO:0013953", "name": "Immunodeficiency 28", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IFNGR2 primary immunodeficiency disease", "immunodeficiency 28", "immunodeficiency type 28", "primary immunodeficiency disease caused by mutation in IFNGR2"], "xref": ["DOID:0111995", "GARD:0024963", "MEDGEN:862384", "OMIM:614889", "UMLS:C4013947"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.", "id": "MONDO:0013959", "name": "Charcot-marie-tooth disease type 4f", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4F", "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX", "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx", "Charcot-Marie-Tooth disease, type 4F", "PRX Charcot-Marie-Tooth disease type 4", "Prx Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110193", "GARD:0012441", "MEDGEN:761704", "OMIM:614895", "Orphanet:99952", "SCTID:715801001", "UMLS:C3540453", "icd11.foundation:330503211"]}
{"category": ["biolink:Disease"], "description": "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.", "id": "MONDO:0013960", "name": "Sinoatrial node dysfunction and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sinoatrial node dysfunction and deafness"], "xref": ["GARD:0017484", "MEDGEN:766932", "OMIM:614896", "Orphanet:324321", "UMLS:C3554018"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.", "id": "MONDO:0013961", "name": "Hypogonadotropic hypogonadism 16 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["SEMA3A hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 16 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in SEMA3A"], "xref": ["DOID:0090080", "GARD:0015878", "MEDGEN:766935", "OMIM:614897", "UMLS:C3554021"]}
{"category": ["biolink:Disease"], "description": "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.", "id": "MONDO:0013962", "name": "Hereditary spastic paraplegia 53", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG53", "VPS37A autosomal recessive complex spastic paraplegia", "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A", "autosomal recessive spastic paraplegia type 53", "hereditary spastic paraplegia 53", "hereditary spastic paraplegia type 53"], "xref": ["DOID:0110805", "GARD:0017445", "MEDGEN:761340", "OMIM:614898", "Orphanet:319199", "SCTID:723823004", "UMLS:C3539494"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.", "id": "MONDO:0013963", "name": "Autosomal recessive nonsyndromic hearing loss 93", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 93"], "xref": ["DOID:0110537", "GARD:0022645", "MEDGEN:854875", "OMIM:614899", "UMLS:C3888355"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.", "id": "MONDO:0013964", "name": "Diamond-blackfan anemia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 11", "Diamond-Blackfan Anemia type 11", "Diamond-Blackfan anaemia caused by mutation in RPL26", "Diamond-Blackfan anemia 11", "Diamond-Blackfan anemia caused by mutation in RPL26", "RPL26 Diamond-Blackfan anaemia", "RPL26 Diamond-Blackfan anemia"], "xref": ["DOID:0111892", "GARD:0015879", "MEDGEN:766956", "NCIT:C176920", "OMIM:614900", "UMLS:C3554042"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.", "id": "MONDO:0013965", "name": "Lethal congenital contracture syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYBPC1 lethal congenital contracture syndrome", "lethal congenital contracture syndrome 4", "lethal congenital contracture syndrome caused by mutation in MYBPC1", "lethal congenital contracture syndrome type 4"], "xref": ["DOID:0060654", "GARD:0012645", "MEDGEN:766960", "OMIM:614915", "UMLS:C3554046"]}
{"category": ["biolink:Disease"], "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.", "id": "MONDO:0013966", "name": "Catecholaminergic polymorphic ventricular tachycardia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CALM1 catecholaminergic polymorphic ventricular tachycardia", "catecholaminergic polymorphic ventricular tachycardia 4", "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1", "catecholaminergic polymorphic ventricular tachycardia type 4", "ventricular tachycardia, catecholaminergic polymorphic, type 4"], "xref": ["DOID:0060678", "GARD:0015880", "MEDGEN:766961", "OMIM:614916", "UMLS:C3554047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013967", "name": "Peroxisome biogenesis disorder 14b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEX11B peroxisome biogenesis disorder", "peroxisome biogenesis disorder 14B", "peroxisome biogenesis disorder type 14B"], "xref": ["DOID:0081274", "GARD:0015881", "MEDGEN:766969", "OMIM:614920", "UMLS:C3554055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013968", "name": "Pgm1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type It", "CDG-It", "CDG1T", "PGM1-CDG", "PGM1-congenital disorder of glycosylation", "congenital disorder of glycosylation type 1t", "congenital disorder of glycosylation type It", "phosphoglucomutase-1 deficiency"], "xref": ["DOID:0080570", "GARD:0004329", "MEDGEN:414536", "MESH:C567859", "NANDO:1200836", "OMIM:614921", "Orphanet:319646", "UMLS:C2752015", "icd11.foundation:1592319293"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.", "id": "MONDO:0013969", "name": "Combined oxidative phosphorylation defect type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD11", "RMND1 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 11", "combined oxidative phosphorylation deficiency caused by mutation in RMND1", "combined oxidative phosphorylation deficiency type 11"], "xref": ["DOID:0111481", "GARD:0017487", "MEDGEN:1682397", "OMIM:614922", "Orphanet:324535", "UMLS:C5190991"]}
{"category": ["biolink:Disease"], "description": "A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.", "id": "MONDO:0013970", "name": "Branched-chain keto acid dehydrogenase kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCKDK deficiency", "BCKDKD", "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency", "branched-chain keto acid dehydrogenase kinase deficiency"], "xref": ["DOID:0090126", "GARD:0017389", "MEDGEN:766992", "OMIM:614923", "Orphanet:308410", "UMLS:C3554078"]}
{"category": ["biolink:Disease"], "description": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.", "id": "MONDO:0013971", "name": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD12", "EARS2 combined oxidative phosphorylation deficiency", "LTBL", "combined oxidative phosphorylation defect type 12", "combined oxidative phosphorylation deficiency caused by mutation in EARS2", "combined oxidative phosphorylation deficiency type 12", "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"], "xref": ["DOID:0111493", "GARD:0013381", "MEDGEN:1645614", "OMIM:614924", "Orphanet:314051", "SCTID:763366000", "UMLS:C4706421"]}
{"category": ["biolink:Disease"], "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.", "id": "MONDO:0013972", "name": "Perrault syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HARS2 Perrault syndrome", "Perrault syndrome 2", "Perrault syndrome caused by mutation in HARS2", "Perrault syndrome type 2"], "xref": ["DOID:0061117", "GARD:0015882", "MEDGEN:767019", "OMIM:614926", "Orphanet:642976", "UMLS:C3554105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013973", "name": "Ectodermal dysplasia 5, hair/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ECTD5", "ectodermal dysplasia 5, hair/nail type"], "xref": ["DOID:0111657", "GARD:0018063", "MEDGEN:767022", "OMIM:614927", "UMLS:C3554108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013974", "name": "Ectodermal dysplasia 6, hair/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ECTD6", "ectodermal dysplasia 6, hair/nail type"], "xref": ["DOID:0111659", "GARD:0018064", "MEDGEN:767025", "OMIM:614928", "UMLS:C3554111"]}
{"category": ["biolink:Disease"], "description": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.", "id": "MONDO:0013975", "name": "Ectodermal dysplasia 7, hair/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT74 pure hair and nail ectodermal dysplasia", "ectodermal dysplasia 7, hair/nail type", "pure hair and nail ectodermal dysplasia caused by mutation in KRT74"], "xref": ["DOID:0111660", "GARD:0018065", "MEDGEN:767031", "OMIM:614929", "UMLS:C3554117"]}
{"category": ["biolink:Disease"], "description": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.", "id": "MONDO:0013976", "name": "Ectodermal dysplasia 9, hair/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HOXC13 pure hair and nail ectodermal dysplasia", "ectodermal dysplasia 9, hair/nail type", "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13"], "xref": ["DOID:0111656", "GARD:0018066", "MEDGEN:767041", "OMIM:614931", "UMLS:C3554127"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.", "id": "MONDO:0013977", "name": "Combined oxidative phosphorylation defect type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD13", "PNPT1 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in PNPT1", "combined oxidative phosphorylation deficiency type 13"], "xref": ["DOID:0111467", "GARD:0017454", "MEDGEN:1631854", "OMIM:614932", "Orphanet:319514", "SCTID:763110007", "UMLS:C4706283"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.", "id": "MONDO:0013978", "name": "Autosomal recessive nonsyndromic hearing loss 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110521", "GARD:0022646", "MEDGEN:760477", "OMIM:614934", "UMLS:C1824925"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.", "id": "MONDO:0013979", "name": "Primary ciliary dyskinesia 19", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD19", "LRRC6 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 19", "primary ciliary dyskinesia 19", "primary ciliary dyskinesia caused by mutation in LRRC6", "primary ciliary dyskinesia type 19"], "xref": ["DOID:0110608", "GARD:0015883", "MEDGEN:762332", "OMIM:614935", "UMLS:C3543826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013980", "name": "Palmoplantar keratoderma, punctate type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PPKP1B", "keratoderma, palmoplantar, punctate type IB"], "xref": ["GARD:0015884", "MEDGEN:767059", "OMIM:614936", "UMLS:C3554145"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.", "id": "MONDO:0013981", "name": "Myoclonus, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial cortical myoclonus", "familial myoclonus", "myoclonus, familial cortical"], "xref": ["GARD:0017444", "OMIMPS:614937", "Orphanet:319189", "SCTID:763770005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013982", "name": "Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"], "xref": ["DOID:0111653", "GARD:0018592", "MEDGEN:762105", "OMIM:614940", "UMLS:C3541517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013983", "name": "Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"], "xref": ["DOID:0111654", "GARD:0015885", "MEDGEN:761671", "OMIM:614941", "UMLS:C3539920"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.", "id": "MONDO:0013984", "name": "Autosomal recessive nonsyndromic hearing loss 84b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 84B"], "xref": ["DOID:0110530", "GARD:0022647", "MEDGEN:767073", "OMIM:614944", "UMLS:C3554159"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.", "id": "MONDO:0013985", "name": "Autosomal recessive nonsyndromic hearing loss 18b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 18B"], "xref": ["DOID:0110474", "GARD:0022648", "MEDGEN:767077", "OMIM:614945", "UMLS:C3554163"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.", "id": "MONDO:0013986", "name": "Combined oxidative phosphorylation defect type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD14", "FARS2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in FARS2", "combined oxidative phosphorylation deficiency type 14"], "xref": ["DOID:0111477", "GARD:0017455", "MEDGEN:1663069", "OMIM:614946", "Orphanet:319519", "UMLS:C4755312"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.", "id": "MONDO:0013987", "name": "Combined oxidative phosphorylation defect type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD15", "MTFMT combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 15", "combined oxidative phosphorylation deficiency caused by mutation in MTFMT", "combined oxidative phosphorylation deficiency type 15"], "xref": ["DOID:0111491", "GARD:0017456", "MEDGEN:1646555", "OMIM:614947", "Orphanet:319524", "SCTID:763203009", "UMLS:C4706313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013988", "name": "Congenital heart defects, multiple types, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CHTD3", "congenital heart defects, multiple types, 3"], "xref": ["MEDGEN:767108", "OMIM:614954", "UMLS:C3554194"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.", "id": "MONDO:0013989", "name": "Developmental and epileptic encephalopathy, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE14", "EIEE14", "KCNT1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 14", "early infantile epileptic encephalopathy caused by mutation in KCNT1", "epileptic encephalopathy, early infantile, 14", "epileptic encephalopathy, early infantile, type 14"], "xref": ["DOID:0080439", "GARD:0015886", "MEDGEN:767109", "OMIM:614959", "UMLS:C3554195"]}
{"category": ["biolink:Disease"], "description": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.", "id": "MONDO:0013990", "name": "Pontocerebellar hypoplasia type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHMP1A non-syndromic pontocerebellar hypoplasia", "PCH8", "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A", "pontocerebellar hypoplasia due to CHMP1A mutation", "pontocerebellar hypoplasia type 8"], "xref": ["DOID:0060277", "GARD:0017488", "MEDGEN:767123", "OMIM:614961", "Orphanet:324569", "SCTID:718611007", "UMLS:C3554209"]}
{"category": ["biolink:Disease"], "description": "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.", "id": "MONDO:0013991", "name": "Obesity due to congenital leptin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Congenital Leptin Deficiency", "obesity, morbid, due to leptin deficiency"], "xref": ["DOID:0111334", "GARD:0013015", "MEDGEN:767138", "NORD:110641", "OMIM:614962", "Orphanet:66628", "UMLS:C3554224", "icd11.foundation:591009309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013992", "name": "Obesity due to leptin receptor gene deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["LEPR Deficiency", "obesity due to leptin receptor gene deficiency", "obesity, morbid, due to leptin receptor deficiency"], "xref": ["GARD:0017083", "MEDGEN:767139", "NCIT:C120386", "NORD:109401", "OMIM:614963", "Orphanet:179494", "UMLS:C3554225", "icd11.foundation:997823205"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.", "id": "MONDO:0013993", "name": "Pontocerebellar hypoplasia type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH7", "TOE1 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1", "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"], "xref": ["DOID:0060276", "GARD:0017315", "MEDGEN:767140", "OMIM:614969", "Orphanet:284339", "SCTID:718605009", "UMLS:C3554226"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.", "id": "MONDO:0013994", "name": "Joubert syndrome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS20", "Joubert syndrome 20", "Joubert syndrome caused by mutation in TMEM231", "Joubert syndrome type 20", "TMEM231 Joubert syndrome"], "xref": ["DOID:0110989", "GARD:0015887", "MEDGEN:767149", "OMIM:614970", "UMLS:C3554235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0013995", "name": "Cholestasis, intrahepatic, of pregnancy, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cholestasis, intrahepatic, of pregnancy 3", "cholestasis, intrahepatic, of pregnancy type 3"], "xref": ["DOID:0070229", "GARD:0015888", "MEDGEN:767155", "OMIM:614972", "UMLS:C3554241"]}
{"category": ["biolink:Disease"], "description": "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.", "id": "MONDO:0013996", "name": "Focal facial dermal dysplasia type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FFDD type II", "FFDD2", "focal facial dermal dysplasia 2, Brauer-Setleis type"], "xref": ["GARD:0017649", "MEDGEN:767159", "NORD:1704", "OMIM:614973", "Orphanet:398173", "UMLS:C3554245"]}
{"category": ["biolink:Disease"], "description": "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.", "id": "MONDO:0013997", "name": "Focal facial dermal dysplasia type iv", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FFDD type IV", "FFDD4", "focal Facial dermal dysplasia type 4", "focal facial dermal dysplasia 4", "focal facial preauricular dysplasia"], "xref": ["GARD:0017650", "MEDGEN:767160", "OMIM:614974", "Orphanet:398189", "UMLS:C3554246"]}
{"category": ["biolink:Disease"], "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.", "id": "MONDO:0013998", "name": "Megf8-related carpenter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Carpenter syndrome 2", "Carpenter syndrome caused by mutation in MEGF8", "Carpenter syndrome type 2", "MEGF8 Carpenter syndrome"], "xref": ["DOID:0061099", "GARD:0015889", "MEDGEN:767161", "OMIM:614976", "UMLS:C3554247"]}
{"category": ["biolink:Disease"], "description": "A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.", "id": "MONDO:0013999", "name": "ROSAH syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ROSAH", "ROSAH syndrome", "optic nerve edema-splenomegaly syndrome", "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache"], "xref": ["GARD:0017411", "MEDGEN:1662266", "OMIM:614979", "Orphanet:313800", "UMLS:C4749914"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene.", "id": "MONDO:0014000", "name": "Congenital heart defects, multiple types, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TAB2 congenital heart malformation", "TAB2-related syndromic congenital heart disease", "congenital heart defects, multiple types, 2", "congenital heart malformation caused by mutation in TAB2"], "xref": ["GARD:0024964", "MEDGEN:767193", "OMIM:614980", "UMLS:C3554279"]}
{"category": ["biolink:Disease"], "description": "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.", "id": "MONDO:0014001", "name": "Usher syndrome type 1k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["USH1K"], "xref": ["DOID:0110837", "GARD:0015890", "MEDGEN:761332", "OMIM:614990", "UMLS:C3539124"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.", "id": "MONDO:0014002", "name": "Autosomal dominant nocturnal frontal lobe epilepsy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ENFL5", "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy", "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1", "autosomal dominant nocturnal frontal lobe epilepsy type 5", "epilepsy nocturnal frontal lobe, 5", "epilepsy, nocturnal frontal lobe, type 5"], "xref": ["DOID:0060686", "GARD:0015891", "MEDGEN:767220", "OMIM:615005", "UMLS:C3554306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014003", "name": "Developmental and epileptic encephalopathy, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE15", "EIEE15", "developmental and epileptic encephalopathy 15", "epileptic encephalopathy, early infantile, 15", "epileptic encephalopathy, early infantile, type 15"], "xref": ["DOID:0080414", "GARD:0015892", "MEDGEN:767230", "OMIM:615006", "UMLS:C3554316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014004", "name": "Basal ganglia calcification, idiopathic, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basal ganglia calcification, idiopathic, 4", "basal ganglia calcification, idiopathic, type 4"], "xref": ["GARD:0015893", "MEDGEN:767235", "OMIM:615007", "UMLS:C3554321"]}
{"category": ["biolink:Disease"], "description": "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.", "id": "MONDO:0014005", "name": "Immunoglobulin-mediated membranoproliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["Ig-mediated MPGN", "Ig-mediated membranoproliferative glomerulonephritis", "NPHS7", "immune complex mediated membranoproliferative glomerulonephritis", "immunoglobulin-mediated MPGN", "immunoglobulin-mediated membranoproliferative glomerulonephritis", "membranoproliferative glomerulonephritis type I", "mesangiocapillary glomerulonephritis type 1", "nephrotic syndrome, type 7", "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis"], "xref": ["DOID:0080388", "GARD:0017506", "MEDGEN:767244", "NANDO:1200726", "NCIT:C123055", "OMIM:615008", "Orphanet:329903", "UMLS:C3554330"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.", "id": "MONDO:0014006", "name": "Schuurs-hoeijmakers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD17", "SHMS", "Schuurs-Hoeijmakers syndrome", "autosomal dominant intellectual disability 17", "intellectual disability, autosomal dominant type 17", "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", "mental retardation, autosomal dominant type 17"], "xref": ["DOID:0070047", "GARD:0013043", "MEDGEN:767257", "NCIT:C150555", "OMIM:615009", "Orphanet:329224", "UMLS:C3554343"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.", "id": "MONDO:0014007", "name": "Aicardi-goutieres syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADAR Aicardi-Goutieres syndrome", "Adar Aicardi-Goutieres syndrome", "Aicardi-Goutieres syndrome 6", "Aicardi-Goutieres syndrome caused by mutation in ADAR", "Aicardi-Goutieres syndrome caused by mutation in Adar", "Aicardi-Goutieres syndrome type 6"], "xref": ["GARD:0015894", "MEDGEN:761287", "NANDO:2200898", "OMIM:615010", "UMLS:C3539013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014008", "name": "Phosphohydroxylysinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Phosphohydroxylysinuria", "phosphohydroxylysinuria"], "xref": ["MEDGEN:767258", "OMIM:615011", "UMLS:C3554344"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.", "id": "MONDO:0014009", "name": "Autosomal recessive congenital ichthyosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI7", "autosomal recessive congenital ichthyosis type 7"], "xref": ["DOID:0060716", "GARD:0015895", "MEDGEN:767262", "OMIM:615022", "UMLS:C3554348"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.", "id": "MONDO:0014010", "name": "Autosomal recessive congenital ichthyosis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI9", "autosomal recessive congenital ichthyosis 9", "autosomal recessive congenital ichthyosis type 9", "ichthyosis, congenital, autosomal recessive type 9"], "xref": ["DOID:0060718", "GARD:0015896", "MEDGEN:767263", "OMIM:615023", "UMLS:C3554349"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.", "id": "MONDO:0014011", "name": "Autosomal recessive congenital ichthyosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI10", "autosomal recessive congenital ichthyosis type 10", "ichthyosis, congenital, autosomal recessive type 10"], "xref": ["DOID:0060719", "GARD:0015897", "MEDGEN:767269", "OMIM:615024", "UMLS:C3554355"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.", "id": "MONDO:0014012", "name": "Charcot-marie-tooth disease axonal type 2q", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2Q", "Charcot-Marie-Tooth disease caused by mutation in DHTKD1", "DHTKD1 Charcot-Marie-Tooth disease", "autosomal dominant Charcot-Marie-Tooth disease type 2Q"], "xref": ["DOID:0110170", "GARD:0012446", "MEDGEN:767280", "OMIM:615025", "Orphanet:329258", "UMLS:C3554366"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014013", "name": "Maternal riboflavin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["maternal riboflavin deficiency"], "xref": ["GARD:0017686", "MEDGEN:1657395", "Orphanet:411712", "UMLS:C4750953"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014014", "name": "Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EBS-AR exophilin 5", "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive", "epidermolysis bullosa simplex due to exophilin 5 deficiency"], "xref": ["GARD:0017691", "MEDGEN:767281", "OMIM:615028", "Orphanet:412189", "UMLS:C3554367"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.", "id": "MONDO:0014015", "name": "Hereditary spastic paraplegia 56", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CYP2U1 hereditary spastic paraplegia", "SPG56", "autosomal recessive spastic paraplegia type 56", "hereditary spastic paraplegia caused by mutation in CYP2U1", "hereditary spastic paraplegia type 56"], "xref": ["DOID:0110808", "GARD:0017480", "MEDGEN:761343", "OMIM:615030", "Orphanet:320411", "UMLS:C3539507"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.", "id": "MONDO:0014016", "name": "Hereditary spastic paraplegia 49", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG49", "TECPR2 hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 49", "hereditary spastic paraplegia 49", "hereditary spastic paraplegia caused by mutation in TECPR2", "hereditary spastic paraplegia type 49", "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay"], "xref": ["DOID:0110801", "GARD:0013568", "MEDGEN:762260", "OMIM:615031", "Orphanet:320385", "UMLS:C3542549"]}
{"category": ["biolink:Disease"], "description": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.", "id": "MONDO:0014018", "name": "Hereditary spastic paraplegia 54", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DDHD2 autosomal recessive complex spastic paraplegia", "SPG54", "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2", "autosomal recessive spastic paraplegia type 54", "hereditary spastic paraplegia type 54"], "xref": ["DOID:0110806", "GARD:0017475", "MEDGEN:761341", "OMIM:615033", "Orphanet:320380", "SCTID:723824005", "UMLS:C3539495"]}
{"category": ["biolink:Disease"], "description": "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.", "id": "MONDO:0014019", "name": "Dystonia 24", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ANO3 dystonic disorder", "DYT-ANO3", "DYT24", "dystonia 24", "dystonia type 24", "dystonic disorder caused by mutation in ANO3"], "xref": ["DOID:0090052", "GARD:0017693", "MEDGEN:767288", "OMIM:615034", "Orphanet:420485", "UMLS:C3554374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014020", "name": "Hereditary spastic paraplegia 55", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG55", "autosomal recessive spastic paraplegia type 55", "hereditary spastic paraplegia type 55"], "xref": ["DOID:0110807", "GARD:0017474", "MEDGEN:761342", "OMIM:615035", "Orphanet:320375", "SCTID:723825006", "UMLS:C3539506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014021", "name": "Familial episodic pain syndrome with predominantly upper body involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["episodic pain syndrome, familial, type 1"], "xref": ["DOID:0111729", "GARD:0017618", "MEDGEN:814997", "OMIM:615040", "Orphanet:391389", "UMLS:C3808667"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.", "id": "MONDO:0014022", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["RXYLT1 muscular dystrophy-dystroglycanopathy, type A", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10", "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1"], "xref": ["DOID:0111239", "GARD:0015898", "MEDGEN:767295", "OMIM:615041", "UMLS:C3554381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014023", "name": "Congenital muscular dystrophy with intellectual disability and severe epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Iu", "CDG-Iu", "CDG1U", "CMD with intellectual disability and severe epilepsy", "DPM2-CDG", "carbohydrate deficient glycoprotein syndrome type Iu", "congenital disorder of glycosylation type 1u", "congenital disorder of glycosylation type Iu"], "xref": ["DOID:0080571", "GARD:0012416", "MEDGEN:1682844", "OMIM:615042", "Orphanet:329178", "UMLS:C5190603"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.", "id": "MONDO:0014024", "name": "Hereditary spastic paraplegia 43", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C19orf12 autosomal recessive complex spastic paraplegia", "SPG43", "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12", "autosomal recessive spastic paraplegia type 43", "hereditary spastic paraplegia type 43"], "xref": ["DOID:0110795", "GARD:0017473", "MEDGEN:760531", "OMIM:615043", "Orphanet:320370", "SCTID:764736001", "UMLS:C2680446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014025", "name": "Lower motor neuron syndrome with late-adult onset", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081356", "GARD:0017282", "MEDGEN:767312", "OMIM:615048", "Orphanet:276435", "UMLS:C3554398", "icd11.foundation:1650555742"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.", "id": "MONDO:0014026", "name": "Congenital stationary night blindness 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1F", "LRIT3 congenital stationary night blindness", "congenital stationary night blindness caused by mutation in LRIT3", "congenital stationary night blindness type 1F", "night blindness, congenital stationary (complete), 1F, autosomal recessive"], "xref": ["DOID:0110864", "GARD:0015899", "MEDGEN:767313", "OMIM:615058", "UMLS:C3554399"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.", "id": "MONDO:0014027", "name": "Hypotrichosis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT11", "SNRPE hypotrichosis", "hypotrichosis 11", "hypotrichosis caused by mutation in SNRPE", "hypotrichosis type 11", "hypt11"], "xref": ["DOID:0110708", "GARD:0015900", "MEDGEN:767323", "OMIM:615059", "UMLS:C3554409"]}
{"category": ["biolink:Disease"], "description": "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.", "id": "MONDO:0014028", "name": "Distal arthrogryposis type 5d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA5D", "ECEL1 distal arthrogryposis", "distal arthrogryposis caused by mutation in ECEL1", "distal arthrogryposis type 5 without ophthalmoparesis", "distal arthrogryposis type 5 without ophthalmoplegia"], "xref": ["DOID:0111594", "GARD:0013059", "MEDGEN:767329", "OMIM:615065", "Orphanet:329457", "UMLS:C3554415"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.", "id": "MONDO:0014029", "name": "Osteogenesis imperfecta type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI14", "TMEM38B osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in TMEM38B"], "xref": ["DOID:0110343", "GARD:0015901", "MEDGEN:767342", "OMIM:615066", "UMLS:C3554428"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.", "id": "MONDO:0014030", "name": "Primary ciliary dyskinesia 20", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC114 primary ciliary dyskinesia", "CILD20", "ciliary dyskinesia, primary, type 20", "primary ciliary dyskinesia caused by mutation in CCDC114", "primary ciliary dyskinesia type 20"], "xref": ["DOID:0110625", "GARD:0015902", "MEDGEN:761920", "OMIM:615067", "UMLS:C3540844"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.", "id": "MONDO:0014031", "name": "Microcephalic primordial dwarfism, alazami type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alazami syndrome"], "xref": ["GARD:0017468", "MEDGEN:767353", "OMIM:615071", "Orphanet:319671", "UMLS:C3554439"]}
{"category": ["biolink:Disease"], "description": "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.", "id": "MONDO:0014032", "name": "Brachydactyly type a1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDA1C", "GDF5 brachydactyly type A1", "brachydactyly type A1 caused by mutation in GDF5"], "xref": ["DOID:0110977", "GARD:0015903", "MEDGEN:767360", "OMIM:615072", "UMLS:C3554446"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.", "id": "MONDO:0014033", "name": "Dystonia 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GNAL dystonic disorder", "dystonia 25", "dystonia type 25", "dystonic disorder caused by mutation in GNAL"], "xref": ["DOID:0090055", "GARD:0010667", "MEDGEN:930339", "OMIM:615073", "Orphanet:329466", "UMLS:C4304670"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.", "id": "MONDO:0014034", "name": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GAND syndrome", "MRD18", "autosomal dominant intellectual disability 18", "intellectual disability, autosomal dominant type 18", "mental retardation, autosomal dominant type 18", "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"], "xref": ["DOID:0070048", "GARD:0012815", "MEDGEN:767362", "OMIM:615074", "Orphanet:363686", "UMLS:C3554448"]}
{"category": ["biolink:Disease"], "description": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0014035", "name": "Severe intellectual disability-progressive spastic diplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTNNB1 syndrome", "MRD19", "autosomal dominant intellectual disability 19", "intellectual disability, autosomal dominant type 19", "mental retardation, autosomal dominant type 19", "neurodevelopmental disorder with spastic diplegia and visual defects", "severe intellectual disability-progressive spastic diplegia syndrome"], "xref": ["DOID:0070049", "GARD:0003505", "ICD10CM:Q87.88", "MEDGEN:767363", "OMIM:615075", "Orphanet:404473", "UMLS:C3554449"]}
{"category": ["biolink:Disease"], "description": "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.", "id": "MONDO:0014036", "name": "Alzheimer disease 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["AD17", "Alzheimer disease 17", "Alzheimer's disease 17", "Alzheimer's disease type 17"], "xref": ["DOID:0110049", "GARD:0027854", "MEDGEN:767366", "OMIM:615080", "UMLS:C3554452"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.", "id": "MONDO:0014037", "name": "Spermatogenic failure 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["KLHL10 azoospermia", "azoospermia caused by mutation in KLHL10", "spermatogenic failure 11", "spermatogenic failure type 11"], "xref": ["DOID:0070180", "GARD:0015904", "MEDGEN:767367", "OMIM:615081", "UMLS:C3554453"]}
{"category": ["biolink:Disease"], "description": "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.", "id": "MONDO:0014038", "name": "Colorectal cancer, susceptibility to, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["POLE colorectal cancer", "colorectal cancer caused by mutation in POLE", "colorectal cancer, susceptibility to, 12", "colorectal cancer, susceptibility to, type 12"], "xref": ["GARD:0027855", "MEDGEN:767374", "OMIM:615083", "UMLS:C3554460"]}
{"category": ["biolink:Disease"], "description": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.", "id": "MONDO:0014039", "name": "Mitochondrial dna depletion syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MGME1 mitochondrial DNA depletion syndrome", "PEO-myopathy-emaciation syndrome", "mitochondrial DNA depletion syndrome 11", "mitochondrial DNA depletion syndrome caused by mutation in MGME1", "mitochondrial DNA depletion syndrome type 11", "mitochondrial DNA maintenance syndrome due to MGME1 deficiency", "mtDNA maintenance syndrome due to MGME1 deficiency"], "xref": ["DOID:0080129", "GARD:0017517", "MEDGEN:767376", "OMIM:615084", "Orphanet:352447", "UMLS:C3554462"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.", "id": "MONDO:0014040", "name": "Autosomal recessive osteopetrosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPTB8", "SNX10 autosomal recessive malignant osteopetrosis", "SNX10 autosomal recessive osteopetrosis", "autosomal recessive malignant osteopetrosis caused by mutation in SNX10", "autosomal recessive osteopetrosis caused by mutation in SNX10", "autosomal recessive osteopetrosis type 8", "osteopetrosis, autosomal recessive type 8"], "xref": ["DOID:0110940", "GARD:0015905", "MEDGEN:767392", "NCIT:C150556", "OMIM:615085", "UMLS:C3554478"]}
{"category": ["biolink:Disease"], "description": "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.", "id": "MONDO:0014042", "name": "Left ventricular noncompaction 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MIB1 left ventricular noncompaction", "left ventricular noncompaction 7", "left ventricular noncompaction caused by mutation in MIB1", "left ventricular noncompaction type 7"], "xref": ["GARD:0015906", "MEDGEN:767410", "NCIT:C157266", "OMIM:615092", "UMLS:C3554496"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.", "id": "MONDO:0014043", "name": "Microcephalic primordial dwarfism due to znf335 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephalic primordial dwarfism, Walsh type"], "xref": ["DOID:0070294", "GARD:0017498", "MEDGEN:767413", "OMIM:615095", "Orphanet:329228", "SCTID:724141003", "UMLS:C3554499"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.", "id": "MONDO:0014044", "name": "Dysmorphism-conductive hearing loss-heart defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017328", "MEDGEN:767688", "OMIM:615102", "Orphanet:289553", "SCTID:763279007", "UMLS:C3554774"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.", "id": "MONDO:0014045", "name": "Cowden syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in SDHD", "Cowden syndrome 3", "Cowden syndrome type 3", "SDHD Cowden disease"], "xref": ["GARD:0024966", "OMIM:615106"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.", "id": "MONDO:0014046", "name": "Cowden syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in KLLN", "Cowden syndrome 4", "Cowden syndrome type 4", "KLLN Cowden disease"], "xref": ["DOID:0081000", "GARD:0016463", "MEDGEN:767431", "OMIM:615107", "UMLS:C3554517"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.", "id": "MONDO:0014047", "name": "Cowden syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in PIK3CA", "Cowden syndrome 5", "Cowden syndrome type 5", "PIK3CA Cowden disease"], "xref": ["DOID:0081001", "GARD:0016464", "MEDGEN:767432", "OMIM:615108", "UMLS:C3554518"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.", "id": "MONDO:0014048", "name": "Cowden syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AKT1 Cowden disease", "Cowden disease caused by mutation in AKT1", "Cowden syndrome 6", "Cowden syndrome type 6"], "xref": ["DOID:0081002", "GARD:0016465", "MEDGEN:767433", "OMIM:615109", "UMLS:C3554519"]}
{"category": ["biolink:Disease"], "description": "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.", "id": "MONDO:0014049", "name": "Urofacial syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LRIG2 Ochoa syndrome", "Ochoa syndrome caused by mutation in LRIG2", "urofacial syndrome 2", "urofacial syndrome type 2"], "xref": ["GARD:0015907", "MEDGEN:767434", "OMIM:615112", "UMLS:C3554520"]}
{"category": ["biolink:Disease"], "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.", "id": "MONDO:0014050", "name": "Isolated microphthalmia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALDH1A3 isolated microphthalmia", "MCOP8", "isolated microphthalmia 8", "isolated microphthalmia caused by mutation in ALDH1A3", "isolated microphthalmia type 8", "microphthalmia, isolated type 8"], "xref": ["DOID:0060841", "GARD:0024967", "MEDGEN:767438", "OMIM:615113", "UMLS:C3554524"]}
{"category": ["biolink:Disease"], "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.", "id": "MONDO:0014051", "name": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COX15 fatal infantile encephalocardiomyopathy", "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "fatal infantile encephalocardiomyopathy caused by mutation in COX15", "mitochondrial complex IV deficiency, nuclear type 6"], "xref": ["DOID:0080358", "GARD:0018571", "MEDGEN:767448", "OMIM:615119", "UMLS:C3554534"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.", "id": "MONDO:0014052", "name": "Congenital myasthenic syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AGRN congenital myasthenic syndrome", "CMS8", "congenital myasthenic syndrome 8", "congenital myasthenic syndrome caused by mutation in AGRN", "congenital myasthenic syndrome type 8", "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects", "myasthenic syndrome, congenital, type 8"], "xref": ["DOID:0110657", "GARD:0015908", "MEDGEN:815069", "OMIM:615120", "UMLS:C3808739"]}
{"category": ["biolink:Disease"], "description": "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.", "id": "MONDO:0014054", "name": "Lymphoproliferative syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CD27 lymphoproliferative syndrome", "CD27-related lymphoproliferative and immune disorder", "LPFS2", "lymphoproliferative syndrome 2", "lymphoproliferative syndrome caused by mutation in CD27"], "xref": ["DOID:0060708", "GARD:0024968", "MEDGEN:767454", "OMIM:615122", "Orphanet:238505", "UMLS:C3554540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014055", "name": "Epilepsy, familial adult myoclonic, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FAME4", "epilepsy, myoclonic, familial adult, 4"], "xref": ["DOID:0111693", "GARD:0018085", "MEDGEN:767474", "OMIM:615127", "UMLS:C3554560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014056", "name": "Melanoma, cutaneous malignant, susceptibility to, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["melanoma, cutaneous malignant, 9", "melanoma, cutaneous malignant, susceptibility to, 9", "melanoma, cutaneous malignant, susceptibility to, type 9"], "xref": ["GARD:0027856", "MEDGEN:767488", "OMIM:615134", "UMLS:C3554574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014057", "name": "Maple syrup urine disease, mild variant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["maple syrup urine disease, mild variant"], "xref": ["DOID:0061205", "GARD:0018388", "MEDGEN:767489", "OMIM:615135", "UMLS:C3554575"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.", "id": "MONDO:0014058", "name": "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fils syndrome"], "xref": ["GARD:0017528", "MEDGEN:767490", "OMIM:615139", "Orphanet:352712", "UMLS:C3554576"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.", "id": "MONDO:0014059", "name": "Microphthalmia, isolated, with coloboma 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TENM3 microphthalmia, isolated, with coloboma", "microphthalmia, isolated, with coloboma 9", "microphthalmia, isolated, with coloboma caused by mutation in TENM3", "microphthalmia, isolated, with coloboma type 9", "microphthalmia, syndromic 15"], "xref": ["GARD:0015909", "MEDGEN:767506", "OMIM:615145", "UMLS:C3554592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014060", "name": "Progressive retinal dystrophy due to retinol transport defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinol dystrophy-iris coloboma-comedogenic acne syndrome"], "xref": ["GARD:0017529", "MEDGEN:767507", "OMIM:615147", "Orphanet:352718", "UMLS:C3554593"]}
{"category": ["biolink:Disease"], "description": "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.", "id": "MONDO:0014061", "name": "Steel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome", "steel syndrome"], "xref": ["GARD:0017735", "MEDGEN:767508", "OMIM:615155", "Orphanet:438117", "UMLS:C3554594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014062", "name": "Mitochondrial dna deletion syndrome with progressive myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial DNA deletion syndrome with limb-girdle weakness", "mtDNA deletion syndrome with limb-girdle weakness", "mtDNA deletion syndrome with progressive myopathy", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6"], "xref": ["DOID:0111519", "GARD:0017518", "MEDGEN:767513", "OMIM:615156", "Orphanet:352470", "UMLS:C3554599"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.", "id": "MONDO:0014063", "name": "Mitochondrial complex iii deficiency nuclear type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC3DN2", "TTC19 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in TTC19", "mitochondrial complex III deficiency nuclear type 2"], "xref": ["DOID:0060351", "GARD:0015910", "MEDGEN:767519", "OMIM:615157", "UMLS:C3554605"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.", "id": "MONDO:0014064", "name": "Mitochondrial complex iii deficiency nuclear type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["UQCRB mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in UQCRB"], "xref": ["DOID:0080112", "GARD:0015911", "MEDGEN:767520", "OMIM:615158", "UMLS:C3554606"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.", "id": "MONDO:0014065", "name": "Mitochondrial complex iii deficiency nuclear type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["UQCRQ mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in UQCRQ"], "xref": ["DOID:0080113", "GARD:0015912", "MEDGEN:767521", "OMIM:615159", "UMLS:C3554607"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.", "id": "MONDO:0014066", "name": "Mitochondrial complex iii deficiency nuclear type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["UQCRC2 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in UQCRC2"], "xref": ["DOID:0080114", "GARD:0015913", "MEDGEN:767522", "OMIM:615160", "UMLS:C3554608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014067", "name": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081201", "GARD:0017548", "MEDGEN:767523", "OMIM:615162", "Orphanet:357175", "UMLS:C3554609"]}
{"category": ["biolink:Disease"], "description": "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.", "id": "MONDO:0014068", "name": "Cone-rod dystrophy 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD17", "cone-rod dystrophy 17", "cone-rod dystrophy type 17"], "xref": ["DOID:0111023", "GARD:0015914", "MEDGEN:767524", "OMIM:615163", "UMLS:C3554610"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014069", "name": "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome", "Wahab syndrome"], "xref": ["GARD:0017551", "MEDGEN:767525", "OMIM:615170", "Orphanet:357332", "UMLS:C3554611"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.", "id": "MONDO:0014070", "name": "Oculocutaneous albinism type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LRMDA oculocutaneous albinism", "OCA7", "oculocutaneous albinism caused by mutation in LRMDA"], "xref": ["DOID:0070100", "GARD:0017531", "MEDGEN:815116", "OMIM:615179", "Orphanet:352745", "SCTID:722059002", "UMLS:C3808786"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.", "id": "MONDO:0014071", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["B3GALNT2 muscular dystrophy-dystroglycanopathy, type A", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11", "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2"], "xref": ["DOID:0111230", "GARD:0015915", "MEDGEN:767552", "OMIM:615181", "UMLS:C3554638"]}
{"category": ["biolink:Disease"], "description": "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.", "id": "MONDO:0014072", "name": "D,l-2-hydroxyglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["D,L-2-HGA", "D,L-2-hydroxyglutaric acidemia", "D,L-2-hydroxyglutaric aciduria", "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia", "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"], "xref": ["DOID:0111619", "GARD:0017540", "ICD9:270.8", "MEDGEN:1802316", "OMIM:615182", "Orphanet:356978", "SCTID:713401006", "UMLS:C5574940"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.", "id": "MONDO:0014073", "name": "Dilated cardiomyopathy 1ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1II", "CRYAB familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1II", "dilated cardiomyopathy type 1II", "familial isolated dilated cardiomyopathy caused by mutation in CRYAB"], "xref": ["DOID:0110450", "GARD:0015916", "MEDGEN:767563", "OMIM:615184", "UMLS:C3554649"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.", "id": "MONDO:0014074", "name": "Charcot-marie-tooth disease dominant intermediate f", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTDIF", "Charcot-Marie-Tooth disease dominant intermediate type F", "Charcot-Marie-Tooth disease, dominant Intermediate type F", "autosomal dominant intermediate Charcot-Marie-Tooth disease type F"], "xref": ["DOID:0110206", "GARD:0009206", "MEDGEN:1666273", "OMIM:615185", "Orphanet:352670", "UMLS:C4749463"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.", "id": "MONDO:0014075", "name": "Cataract 39 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRYGB early-onset non-syndromic cataract", "CTRCT39", "cataract 39, multiple types, autosomal dominant", "early-onset non-syndromic cataract caused by mutation in CRYGB"], "xref": ["DOID:0110236", "GARD:0024969", "MEDGEN:815130", "OMIM:615188", "UMLS:C3808800"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.", "id": "MONDO:0014076", "name": "Dyskeratosis congenita, autosomal recessive 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB5", "dyskeratosis congenita, autosomal recessive 5", "dyskeratosis congenita, autosomal recessive type 5"], "xref": ["DOID:0070022", "GARD:0015917", "MEDGEN:767570", "NCIT:C176928", "OMIM:615190", "UMLS:C3554656"]}
{"category": ["biolink:Disease"], "description": "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.", "id": "MONDO:0014077", "name": "Cobblestone lissencephaly without muscular or ocular involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cobblestone lissencephaly without muscular or eye involvement", "cobblestone lissencephaly without muscular or ocular involvement", "lissencephaly type 2 without muscular or eye involvement", "lissencephaly type 2 without muscular or ocular involvement", "lissencephaly type 5"], "xref": ["DOID:0112230", "GARD:0017526", "MEDGEN:767571", "OMIM:615191", "Orphanet:352682", "UMLS:C3554657"]}
{"category": ["biolink:Disease"], "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.", "id": "MONDO:0014078", "name": "Platelet-type bleeding disorder 15", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACTN1 inherited bleeding disorder, platelet-type", "BDPLT15", "inherited bleeding disorder, platelet-type caused by mutation in ACTN1", "platelet-type bleeding disorder 15"], "xref": ["DOID:0111053", "GARD:0018272", "MEDGEN:767577", "NANDO:2200665", "OMIM:615193", "UMLS:C3554663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014080", "name": "Osteosclerotic metaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OSMD", "osteosclerotic metaphyseal dysplasia"], "xref": ["DOID:0081111", "GARD:0017931", "MEDGEN:767579", "OMIM:615198", "Orphanet:500548", "UMLS:C3554665"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.", "id": "MONDO:0014081", "name": "Severe combined immunodeficiency due to card11 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 11A", "immunodeficiency type 11"], "xref": ["DOID:0111957", "GARD:0017549", "MEDGEN:767600", "OMIM:615206", "Orphanet:357237", "UMLS:C3554686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014082", "name": "Cryptosporidiosis-chronic cholangitis-liver disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cryptosporidiosis-chronic cholangitis-liver disease syndrome"], "xref": ["DOID:0111982", "GARD:0017550", "MEDGEN:767601", "OMIM:615207", "Orphanet:357329", "UMLS:C3554687"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.", "id": "MONDO:0014083", "name": "Agammaglobulinemia 7, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIK3R1 autosomal agammaglobulinemia", "agammaglobulinemia 7, autosomal recessive", "autosomal agammaglobulinemia caused by mutation in PIK3R1"], "xref": ["DOID:0081139", "GARD:0015918", "MEDGEN:767603", "OMIM:615214", "UMLS:C3554689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014084", "name": "Ataxia with oculomotor apraxia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ataxia-oculomotor apraxia 3", "ataxia-oculomotor apraxia type 3"], "xref": ["DOID:0060557", "GARD:0013112", "MEDGEN:767604", "OMIM:615217", "UMLS:C3554690"]}
{"category": ["biolink:Disease"], "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.", "id": "MONDO:0014085", "name": "Hydrocephalus, nonsyndromic, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MPDZ congenital hydrocephalus", "congenital hydrocephalus caused by mutation in MPDZ", "hydrocephalus, congenital, 2, with or without brain or eye anomalies", "hydrocephalus, nonsyndromic, autosomal recessive 2", "hydrocephalus, nonsyndromic, autosomal recessive type 2"], "xref": ["GARD:0024970", "MEDGEN:767605", "OMIM:615219", "UMLS:C3554691"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.", "id": "MONDO:0014086", "name": "Osteogenesis imperfecta type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI15", "WNT1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in WNT1"], "xref": ["DOID:0110347", "GARD:0015919", "MEDGEN:815174", "OMIM:615220", "UMLS:C3808844"]}
{"category": ["biolink:Disease"], "description": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.", "id": "MONDO:0014087", "name": "Smith-mccort dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAB33B Smith-McCort dysplasia", "Smith-McCort dysplasia 2", "Smith-McCort dysplasia caused by mutation in RAB33B", "Smith-McCort dysplasia type 2"], "xref": ["DOID:0081271", "GARD:0015921", "MEDGEN:811489", "OMIM:615222", "UMLS:C3714896"]}
{"category": ["biolink:Disease"], "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.", "id": "MONDO:0014088", "name": "Advanced sleep phase syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSNK1D advanced sleep phase syndrome", "FASPS2", "advanced sleep phase syndrome caused by mutation in CSNK1D", "advanced sleep phase syndrome type 2", "advanced sleep phase syndrome, familial, type 2", "advanced sleep-phase syndrome, familial, 2"], "xref": ["DOID:0110012", "GARD:0015922", "MEDGEN:815204", "OMIM:615224", "UMLS:C3808874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014089", "name": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSPC", "palmoplantar carcinoma, multiple self-healing"], "xref": ["GARD:0017525", "MEDGEN:815206", "OMIM:615225", "OMIM:616964", "Orphanet:352662", "UMLS:C3808876"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014090", "name": "Polydactyly, postaxial, type a6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A6"], "xref": ["GARD:0018176", "MEDGEN:815219", "OMIM:615226", "UMLS:C3808889"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.", "id": "MONDO:0014091", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATP5F1A mitochondrial complex deficiency", "MC5DN4B", "mitochondrial complex deficiency caused by mutation in ATP5F1A"], "xref": ["DOID:0070462", "GARD:0018667", "MEDGEN:815229", "OMIM:615228", "UMLS:C3808899"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.", "id": "MONDO:0014093", "name": "Retinitis pigmentosa 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RBP3 retinitis pigmentosa", "RP66", "retinitis pigmentosa 66", "retinitis pigmentosa caused by mutation in RBP3", "retinitis pigmentosa type 66"], "xref": ["DOID:0110393", "GARD:0015923", "MEDGEN:811638", "OMIM:615233", "UMLS:C3715216"]}
{"category": ["biolink:Disease"], "description": "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.", "id": "MONDO:0014094", "name": "Severe congenital hypochromic anemia with ringed sideroblasts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anemia, hypochromic microcytic, with iron overload type 2", "severe congenital hypochromic sideroblastic anaemia", "severe congenital hypochromic sideroblastic anemia"], "xref": ["GARD:0017364", "MEDGEN:815250", "OMIM:615234", "Orphanet:300298", "SCTID:725463007", "UMLS:C3808920"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.", "id": "MONDO:0014095", "name": "Dilated cardiomyopathy 1jj", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1JJ", "LAMA4 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Jj", "dilated cardiomyopathy type 1JJ", "familial isolated dilated cardiomyopathy caused by mutation in LAMA4"], "xref": ["DOID:0110438", "GARD:0015924", "MEDGEN:815265", "OMIM:615235", "UMLS:C3808935"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).", "id": "MONDO:0014096", "name": "Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Woods-Crouchman-Huson syndrome"], "xref": ["GARD:0003498", "MEDGEN:490089", "OMIM:615236", "Orphanet:137658", "SCTID:719396000", "UMLS:C0796203"]}
{"category": ["biolink:Disease"], "description": "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.", "id": "MONDO:0014097", "name": "Congenital short bowel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CSBS", "congenital short bowel syndrome"], "xref": ["GARD:0016592", "MEDGEN:1784105", "Orphanet:2301", "SCTID:715201005", "UMLS:C5441717", "icd11.foundation:1672462112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014098", "name": "Cidec-related familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CIDEC-related FPLD", "CIDEC-related familial partial lipodystrophy", "FPLD5"], "xref": ["DOID:0070203", "GARD:0013125", "MEDGEN:815270", "OMIM:615238", "Orphanet:435651", "UMLS:C3808940"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.", "id": "MONDO:0014099", "name": "Nephrotic syndrome, type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARHGDIA nephrotic syndrome", "nephrotic syndrome caused by mutation in ARHGDIA", "nephrotic syndrome, type 8"], "xref": ["DOID:0080389", "GARD:0015925", "MEDGEN:815283", "OMIM:615244", "UMLS:C3808953"]}
{"category": ["biolink:Disease"], "description": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.", "id": "MONDO:0014100", "name": "Dilated cardiomyopathy 1kk", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1KK", "MYPN dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Kk", "cardiomyopathy, hypertrophic, 22", "dilated cardiomyopathy caused by mutation in MYPN", "dilated cardiomyopathy type 1KK"], "xref": ["DOID:0110445", "GARD:0015926", "MEDGEN:811544", "OMIM:615248", "UMLS:C3714995"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.", "id": "MONDO:0014101", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["POMK muscular dystrophy-dystroglycanopathy, type A", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK"], "xref": ["DOID:0111235", "GARD:0015927", "MEDGEN:815294", "OMIM:615249", "UMLS:C3808964"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.", "id": "MONDO:0014102", "name": "Hypogonadotropic hypogonadism 17 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SPRY4 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 17 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in SPRY4"], "xref": ["DOID:0090079", "GARD:0015928", "MEDGEN:815301", "OMIM:615266", "UMLS:C3808971"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.", "id": "MONDO:0014103", "name": "Hypogonadotropic hypogonadism 18 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IL17RD hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 18 with or without anosmia", "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant", "hypogonadotropic hypogonadism caused by mutation in IL17RD"], "xref": ["DOID:0090076", "GARD:0015929", "MEDGEN:815305", "OMIM:615267", "UMLS:C3808975"]}
{"category": ["biolink:Disease"], "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.", "id": "MONDO:0014104", "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATP8A2 dysequilibrium syndrome", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4", "dysequilibrium syndrome caused by mutation in ATP8A2"], "xref": ["DOID:0070559", "GARD:0015930", "MEDGEN:815307", "OMIM:615268", "UMLS:C3808977"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.", "id": "MONDO:0014105", "name": "Hypogonadotropic hypogonadism 19 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DUSP6 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 19 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in DUSP6"], "xref": ["DOID:0090090", "GARD:0015931", "MEDGEN:815311", "OMIM:615269", "UMLS:C3808981"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.", "id": "MONDO:0014106", "name": "Hypogonadotropic hypogonadism 20 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FGF17 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 20 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in FGF17"], "xref": ["DOID:0090082", "GARD:0015932", "MEDGEN:815313", "OMIM:615270", "UMLS:C3808983"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.", "id": "MONDO:0014107", "name": "Hypogonadotropic hypogonadism 21 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FLRT3 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 21 with anosmia", "hypogonadotropic hypogonadism 21 with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in FLRT3"], "xref": ["DOID:0090093", "GARD:0015933", "MEDGEN:815316", "OMIM:615271", "UMLS:C3808986"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.", "id": "MONDO:0014108", "name": "Fanconi anemia complementation group q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERCC4 Fanconi anaemia", "ERCC4 Fanconi anemia", "FANCQ", "Fanconi Anemia, complementation group type Q", "Fanconi anaemia caused by mutation in ERCC4", "Fanconi anaemia complementation group type Q", "Fanconi anemia caused by mutation in ERCC4", "Fanconi anemia complementation group type Q"], "xref": ["DOID:0111093", "GARD:0015934", "MEDGEN:815318", "OMIM:615272", "UMLS:C3808988"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.", "id": "MONDO:0014110", "name": "Cataract 15 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT15", "MIP early-onset non-syndromic cataract", "early-onset non-syndromic cataract caused by mutation in MIP"], "xref": ["DOID:0110251", "GARD:0024971", "MEDGEN:815331", "OMIM:615274", "UMLS:C3809001"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.", "id": "MONDO:0014111", "name": "Cataract 19 multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT19", "LIM2 early-onset non-syndromic cataract", "cataract type 19", "early-onset non-syndromic cataract caused by mutation in LIM2"], "xref": ["DOID:0110263", "GARD:0024972", "MEDGEN:815334", "OMIM:615277", "UMLS:C3809004"]}
{"category": ["biolink:Disease"], "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.", "id": "MONDO:0014112", "name": "Cardiofaciocutaneous syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRAS cardiofaciocutaneous syndrome", "cardiofaciocutaneous syndrome 2", "cardiofaciocutaneous syndrome caused by mutation in KRAS", "cardiofaciocutaneous syndrome caused by mutation in kras", "cardiofaciocutaneous syndrome type 2", "kras cardiofaciocutaneous syndrome"], "xref": ["DOID:0111461", "GARD:0015935", "MEDGEN:815335", "OMIM:615278", "UMLS:C3809005"]}
{"category": ["biolink:Disease"], "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.", "id": "MONDO:0014113", "name": "Cardiofaciocutaneous syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MAP2K1 cardiofaciocutaneous syndrome", "cardiofaciocutaneous syndrome 3", "cardiofaciocutaneous syndrome caused by mutation in MAP2K1", "cardiofaciocutaneous syndrome type 3"], "xref": ["DOID:0111462", "GARD:0015936", "MEDGEN:815336", "OMIM:615279", "UMLS:C3809006"]}
{"category": ["biolink:Disease"], "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.", "id": "MONDO:0014114", "name": "Cardiofaciocutaneous syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MAP2K2 cardiofaciocutaneous syndrome", "cardiofaciocutaneous syndrome 4", "cardiofaciocutaneous syndrome caused by mutation in MAP2K2", "cardiofaciocutaneous syndrome type 4"], "xref": ["DOID:0111463", "GARD:0015937", "MEDGEN:815337", "OMIM:615280", "UMLS:C3809007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014115", "name": "Hypomyelination with brain stem and spinal cord involvement and leg spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HBSL"], "xref": ["GARD:0017554", "MEDGEN:1667792", "OMIM:615281", "Orphanet:363412", "UMLS:C4755254"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.", "id": "MONDO:0014116", "name": "Complex cortical dysplasia with other brain malformations 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CDCBM2", "KIF5C complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C", "complex cortical dysplasia with other brain malformations type 2", "cortical dysplasia, Complex, with Other brain malformations type 2"], "xref": ["DOID:0090133", "MEDGEN:815343", "OMIM:615282", "UMLS:C3809013"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).", "id": "MONDO:0014117", "name": "Charcot-marie-tooth disease type 4b3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4B3", "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1", "Charcot-Marie-Tooth disease with focally folded myelin", "SBF1 Charcot-Marie-Tooth disease type 4"], "xref": ["DOID:0110194", "GARD:0017578", "MEDGEN:811329", "OMIM:615284", "Orphanet:363981", "SCTID:763345008", "UMLS:C3695063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014118", "name": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome", "vps45 deficiency"], "xref": ["DOID:0112132", "GARD:0017585", "MEDGEN:815361", "OMIM:615285", "Orphanet:369852", "UMLS:C3809031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014119", "name": "Intellectual disability-strabismus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive type 36", "mental retardation, autosomal recessive type 36", "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"], "xref": ["DOID:0081099", "GARD:0017563", "MEDGEN:1665943", "OMIM:615286", "Orphanet:363528", "UMLS:C4750838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014120", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a13", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111238", "GARD:0015938", "MEDGEN:815372", "OMIM:615287", "UMLS:C3809042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014121", "name": "Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures", "SMALED2", "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"], "xref": ["DOID:0070349", "GARD:0013222", "MEDGEN:1669929", "OMIM:615290", "Orphanet:363454", "UMLS:C4747715"]}
{"category": ["biolink:Disease"], "description": "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.", "id": "MONDO:0014122", "name": "Myofibromatosis, infantile, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NOTCH3 myofibromatosis", "myofibromatosis caused by mutation in NOTCH3", "myofibromatosis, infantile 2", "myofibromatosis, infantile, 2", "myofibromatosis, infantile, type 2"], "xref": ["DOID:0070667", "GARD:0015939", "MEDGEN:815414", "NCIT:C176944", "OMIM:615293", "UMLS:C3809084"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.", "id": "MONDO:0014123", "name": "Primary ciliary dyskinesia 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD21", "DRC1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 21", "primary ciliary dyskinesia caused by mutation in DRC1", "primary ciliary dyskinesia type 21"], "xref": ["DOID:0110596", "GARD:0015940", "MEDGEN:815417", "OMIM:615294", "UMLS:C3809087"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.", "id": "MONDO:0014124", "name": "Adams-oliver syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Adams-Oliver syndrome 4", "Adams-Oliver syndrome caused by mutation in EOGT", "Adams-Oliver syndrome type 4", "EOGT Adams-Oliver syndrome"], "xref": ["GARD:0015941", "MEDGEN:815422", "OMIM:615297", "UMLS:C3809092"]}
{"category": ["biolink:Disease"], "description": "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.", "id": "MONDO:0014125", "name": "Symphalangism, proximal, 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF5 proximal symphalangism (disease)", "proximal symphalangism (disease) caused by mutation in GDF5", "symphalangism, proximal, 1B", "symphalangism, proximal, type 1B"], "xref": ["DOID:0080788", "GARD:0015942", "MEDGEN:815434", "OMIM:615298", "UMLS:C3809104"]}
{"category": ["biolink:Disease"], "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.", "id": "MONDO:0014126", "name": "Perrault syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LARS2 Perrault syndrome", "Perrault syndrome 4", "Perrault syndrome caused by mutation in LARS2", "Perrault syndrome type 4"], "xref": ["GARD:0015943", "MEDGEN:815435", "OMIM:615300", "UMLS:C3809105"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.", "id": "MONDO:0014127", "name": "Oculocutaneous albinism type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA5"], "xref": ["DOID:0070099", "GARD:0017598", "MEDGEN:854888", "OMIM:615312", "Orphanet:370091", "SCTID:722057000", "UMLS:C3888401"]}
{"category": ["biolink:Disease"], "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.", "id": "MONDO:0014128", "name": "Tcf12-related craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TCF12 craniosynostosis", "TCF12-related craniosynostosis", "craniosynostosis 3", "craniosynostosis caused by mutation in TCF12", "craniosynostosis type 3"], "xref": ["DOID:0061011", "GARD:0018047", "MEDGEN:811568", "OMIM:615314", "Orphanet:672979", "UMLS:C3715051"]}
{"category": ["biolink:Disease"], "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.", "id": "MONDO:0014130", "name": "Dowling-degos disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Dowling-Degos disease 2", "Dowling-Degos disease caused by mutation in POFUT1", "Dowling-Degos disease type 2", "POFUT1 Dowling-Degos disease"], "xref": ["GARD:0015944", "MEDGEN:815477", "OMIM:615327", "UMLS:C3809147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014131", "name": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017562", "MEDGEN:815490", "OMIM:615328", "Orphanet:363523", "UMLS:C3809160"]}
{"category": ["biolink:Disease"], "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.", "id": "MONDO:0014132", "name": "Multiple mitochondrial dysfunctions syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IBA57 deficiency", "IBA57 fatal multiple mitochondrial dysfunctions syndrome", "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57", "multiple mitochondrial dysfunctions syndrome 3", "multiple mitochondrial dysfunctions syndrome type 3"], "xref": ["DOID:0080135", "GARD:0017555", "MEDGEN:815495", "OMIM:615330", "Orphanet:363424", "UMLS:C3809165"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.", "id": "MONDO:0014133", "name": "Developmental and epileptic encephalopathy, 16", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE16", "EIEE16", "developmental and epileptic encephalopathy 16", "epileptic encephalopathy, early infantile, 16", "epileptic encephalopathy, early infantile, type 16"], "xref": ["DOID:0080449", "GARD:0015945", "MEDGEN:815503", "OMIM:615338", "UMLS:C3809173"]}
{"category": ["biolink:Disease"], "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.", "id": "MONDO:0014134", "name": "Pulmonary hypertension, primary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMAD9 primary pulmonary hypertension", "primary pulmonary hypertension caused by mutation in SMAD9", "pulmonary hypertension, primary, 2", "pulmonary hypertension, primary, type 2"], "xref": ["GARD:0018394", "MEDGEN:854709", "OMIM:615342", "UMLS:C3888002"]}
{"category": ["biolink:Disease"], "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.", "id": "MONDO:0014135", "name": "Pulmonary hypertension, primary, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CAV1 primary pulmonary hypertension", "primary pulmonary hypertension caused by mutation in CAV1", "pulmonary hypertension, primary, 3", "pulmonary hypertension, primary, type 3"], "xref": ["GARD:0024973", "MEDGEN:815522", "OMIM:615343", "UMLS:C3809192"]}
{"category": ["biolink:Disease"], "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.", "id": "MONDO:0014136", "name": "Pulmonary hypertension, primary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNK3 primary pulmonary hypertension", "primary pulmonary hypertension caused by mutation in KCNK3", "pulmonary hypertension, primary, 4", "pulmonary hypertension, primary, type 4"], "xref": ["GARD:0024974", "MEDGEN:815528", "OMIM:615344", "UMLS:C3809198"]}
{"category": ["biolink:Disease"], "description": "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.", "id": "MONDO:0014137", "name": "Precocious puberty, central, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MKRN3 central precocious puberty", "central precocious puberty caused by mutation in MKRN3", "precocious puberty, central, 2", "precocious puberty, central, type 2"], "xref": ["DOID:0112309", "GARD:0024975", "MEDGEN:815529", "OMIM:615346", "UMLS:C3809199"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.", "id": "MONDO:0014138", "name": "Nemaline myopathy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["KLHL40 nemaline myopathy", "NEM8", "nemaline myopathy 8", "nemaline myopathy caused by mutation in KLHL40", "nemaline myopathy type 8"], "xref": ["DOID:0110930", "GARD:0015946", "MEDGEN:815539", "NCIT:C129871", "OMIM:615348", "UMLS:C3809209"]}
{"category": ["biolink:Disease"], "description": "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.", "id": "MONDO:0014139", "name": "Ehlers-danlos syndrome, spondylodysplastic type, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["B3GALT6 Ehlers-Danlos syndrome progeroid type", "B3GALT6-related spEDS", "B3GALT6-related spondylodysplastic EDS", "Beta3GalT6-deficient EDS", "EDSP2", "EDSSPD2", "Ehlers-Danlos syndrome progeroid type 2", "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6", "Ehlers-Danlos syndrome, progeroid type, 2", "Ehlers-Danlos syndrome, spondylodysplastic type, 2", "spEDS-B3GALT6"], "xref": ["GARD:0015947", "MEDGEN:815540", "OMIM:615349", "Orphanet:536467", "UMLS:C3809210"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014140", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["muscle-eye-brain-GMPPB related"], "xref": ["DOID:0111233", "GARD:0015948", "MEDGEN:815546", "OMIM:615350", "UMLS:C3809216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014141", "name": "Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type b14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital muscular dystrophy-GMPPB related"], "xref": ["DOID:0112377", "GARD:0024976", "MEDGEN:815551", "OMIM:615351", "UMLS:C3809221"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.", "id": "MONDO:0014142", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2t", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GMPPB autosomal recessive limb-girdle muscular dystrophy", "LGMD-GMPPB related", "LGMD2T", "MDDGC14", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB"], "xref": ["DOID:0110294", "GARD:0012544", "MEDGEN:1377325", "OMIM:615352", "Orphanet:363623", "UMLS:C4518000"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.", "id": "MONDO:0014143", "name": "Noonan syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS8", "Noonan syndrome 8", "Noonan syndrome caused by mutation in RIT1", "Noonan syndrome type 8", "RIT1 Noonan syndrome"], "xref": ["DOID:0060586", "GARD:0015949", "MEDGEN:815563", "NCIT:C176936", "OMIM:615355", "UMLS:C3809233"]}
{"category": ["biolink:Disease"], "description": "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.", "id": "MONDO:0014144", "name": "Autosomal recessive limb-girdle muscular dystrophy type r18", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2S", "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11", "autosomal recessive limb-girdle muscular dystrophy type 2S", "muscular dystrophy, limb-girdle, autosomal recessive 18", "muscular dystrophy, limb-girdle, type 2S"], "xref": ["DOID:0110287", "GARD:0012543", "MEDGEN:1385598", "OMIM:615356", "Orphanet:369840", "UMLS:C4517996"]}
{"category": ["biolink:Disease"], "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.", "id": "MONDO:0014145", "name": "Leber congenital amaurosis 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF6 Leber congenital amaurosis", "LCA17", "Leber congenital amaurosis 17", "Leber congenital amaurosis caused by mutation in GDF6", "Leber congenital amaurosis type 17"], "xref": ["DOID:0110217", "GARD:0015950", "MEDGEN:811616", "OMIM:615360", "UMLS:C3715164"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.", "id": "MONDO:0014146", "name": "Autosomal dominant hypocalcemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HYPOC2", "autosomal dominant hypocalcemia type 2", "hypocalcemia, autosomal dominant type 2"], "xref": ["DOID:0090108", "GARD:0015951", "MEDGEN:815573", "OMIM:615361", "UMLS:C3809243"]}
{"category": ["biolink:Disease"], "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.", "id": "MONDO:0014147", "name": "Neuronal ceroid lipofuscinosis 13", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN13", "CTSF neuronal ceroid lipofuscinosis", "ceroid lipofuscinosis, neuronal, 13 (Kufs type)", "ceroid lipofuscinosis, neuronal, type 13", "neuronal ceroid lipofuscinosis caused by mutation in CTSF", "neuronal ceroid lipofuscinosis type 13"], "xref": ["DOID:0110727", "GARD:0017527", "MEDGEN:811566", "OMIM:615362", "Orphanet:352709", "UMLS:C3715049"]}
{"category": ["biolink:Disease"], "description": "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.", "id": "MONDO:0014148", "name": "Estrogen resistance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016548", "MEDGEN:815580", "OMIM:615363", "Orphanet:785", "SCTID:724555000", "UMLS:C3809250", "icd11.foundation:1267163286"]}
{"category": ["biolink:Disease"], "description": "A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.", "id": "MONDO:0014149", "name": "Fetal akinesia-cerebral and retinal hemorrhage syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lethal congenital contracture syndrome type 5"], "xref": ["DOID:0061261", "GARD:0017553", "MEDGEN:1631944", "OMIM:615368", "Orphanet:363409", "SCTID:763346009", "UMLS:C4706410"]}
{"category": ["biolink:Disease"], "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.", "id": "MONDO:0014150", "name": "Developmental and epileptic encephalopathy 94", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE94", "EEOC", "childhood onset epileptic encephalopathy", "developmental and epileptic encephalopathy 94"], "xref": ["DOID:0081325", "GARD:0013197", "MEDGEN:815608", "OMIM:615369", "UMLS:C3809278"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.", "id": "MONDO:0014152", "name": "Left ventricular noncompaction 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRDM16 familial isolated dilated cardiomyopathy", "familial isolated dilated cardiomyopathy caused by mutation in PRDM16", "left ventricular noncompaction 8", "left ventricular noncompaction type 8"], "xref": ["DOID:0081157", "GARD:0015952", "MEDGEN:815618", "OMIM:615373", "UMLS:C3809288"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.", "id": "MONDO:0014153", "name": "Cone-rod dystrophy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD18", "RAB28 cone-rod dystrophy", "cone-rod dystrophy 18", "cone-rod dystrophy caused by mutation in RAB28", "cone-rod dystrophy type 18"], "xref": ["DOID:0111024", "GARD:0015953", "MEDGEN:815629", "OMIM:615374", "UMLS:C3809299"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.", "id": "MONDO:0014154", "name": "Charcot-marie-tooth disease recessive intermediate c", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMTRIC", "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5", "Charcot-Marie-Tooth disease recessive intermediate type C", "Charcot-Marie-Tooth disease, recessive Intermediate type C", "PLEKHG5 Charcot-Marie-Tooth disease", "RI-CMT type C", "RI-CMTC", "autosomal recessive intermediate Charcot-Marie-Tooth disease type C"], "xref": ["DOID:0110198", "GARD:0017587", "MEDGEN:815639", "OMIM:615376", "Orphanet:369867", "UMLS:C3809309"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.", "id": "MONDO:0014155", "name": "Atrial fibrillation, familial, 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SCN1B familial atrial fibrillation", "atrial fibrillation, familial, 13", "atrial fibrillation, familial, type 13", "familial atrial fibrillation caused by mutation in SCN1B"], "xref": ["GARD:0015954", "MEDGEN:815641", "OMIM:615377", "UMLS:C3809311"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.", "id": "MONDO:0014156", "name": "Atrial fibrillation, familial, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SCN2B familial atrial fibrillation", "atrial fibrillation, familial, 14", "atrial fibrillation, familial, type 14", "familial atrial fibrillation caused by mutation in SCN2B"], "xref": ["GARD:0015955", "MEDGEN:815642", "OMIM:615378", "UMLS:C3809312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014157", "name": "Mandibular hypoplasia-deafness-progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDP syndrome", "mandibular hypoplasia-hearing loss-progeroid syndrome"], "xref": ["GARD:0010989", "MEDGEN:811623", "OMIM:615381", "Orphanet:363649", "UMLS:C3715192"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.", "id": "MONDO:0014158", "name": "Nephronophthisis 16", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANKS6 nephronophthisis (disease)", "NPHP16", "nephronophthisis (disease) caused by mutation in ANKS6", "nephronophthisis 16", "nephronophthisis type 16"], "xref": ["DOID:0111124", "GARD:0018183", "MEDGEN:815650", "OMIM:615382", "SCTID:444558002", "UMLS:C3809320"]}
{"category": ["biolink:Disease"], "description": "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).", "id": "MONDO:0014159", "name": "Autosomal recessive spinocerebellar ataxia 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ataxie spinocérébelleuse à début infantile avec retard psychomoteur", "SCAR14", "SPARCA", "SPARCA1", "SPTBN2 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2", "autosomal recessive cerebellar ataxia-cognitive defect syndrome", "autosomal recessive spinocerebellar ataxia type 14", "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome", "spectrin-associated autosomal recessive cerebellar ataxia type 1", "spinocerebellar ataxia, autosomal recessive type 14"], "xref": ["DOID:0080058", "GARD:0017516", "MEDGEN:1636182", "OMIM:615386", "Orphanet:352403", "SCTID:763351003", "UMLS:C4706415"]}
{"category": ["biolink:Disease"], "description": "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.", "id": "MONDO:0014160", "name": "Tcr-alpha-beta-positive t-cell deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD7", "TCR-alpha-beta+ T-cell deficiency"], "xref": ["DOID:0111977", "GARD:0017646", "MEDGEN:815662", "OMIM:615387", "Orphanet:397959", "UMLS:C3809332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014161", "name": "Vesicoureteral reflux 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VUR7", "vesicoureteral reflux 7"], "xref": ["GARD:0018424", "MEDGEN:815667", "OMIM:615390", "UMLS:C3809337"]}
{"category": ["biolink:Disease"], "description": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.", "id": "MONDO:0014162", "name": "Infantile hypertrophic cardiomyopathy due to mrpl44 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD16", "MRPL44 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 16", "combined oxidative phosphorylation deficiency caused by mutation in MRPL44", "combined oxidative phosphorylation deficiency type 16"], "xref": ["DOID:0111469", "GARD:0012892", "MEDGEN:815669", "OMIM:615395", "Orphanet:352563", "UMLS:C3809339"]}
{"category": ["biolink:Disease"], "description": "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.", "id": "MONDO:0014163", "name": "Left ventricular noncompaction 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYBPC3 left ventricular noncompaction", "left ventricular noncompaction 10", "left ventricular noncompaction caused by mutation in MYBPC3", "left ventricular noncompaction type 10"], "xref": ["GARD:0015956", "MEDGEN:811617", "OMIM:615396", "UMLS:C3715165"]}
{"category": ["biolink:Disease"], "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.", "id": "MONDO:0014164", "name": "Meckel syndrome, type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Meckel syndrome caused by mutation in TMEM231", "Meckel syndrome, type 11", "TMEM231 Meckel syndrome", "meckel syndrome 11"], "xref": ["GARD:0015957", "MEDGEN:815682", "OMIM:615397", "UMLS:C3809352"]}
{"category": ["biolink:Disease"], "description": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.", "id": "MONDO:0014165", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LFSS", "MCAHS type 3", "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "PIGT-CDG", "congenital disorder of glycosylation due to PIGT deficiency", "multiple congenital anomalies-hypotonia-seizures syndrome 3", "multiple congenital anomalies-hypotonia-seizures syndrome type 3", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT"], "xref": ["DOID:0080140", "GARD:0017584", "MEDGEN:815686", "MESH:C566367", "OMIM:603530", "OMIM:615398", "Orphanet:369837", "UMLS:C3809356"]}
{"category": ["biolink:Disease"], "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.", "id": "MONDO:0014166", "name": "Paroxysmal nocturnal hemoglobinuria 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PIGT paroxysmal nocturnal hemoglobinuria", "paroxysmal nocturnal hemoglobinuria 2", "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation", "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT", "paroxysmal nocturnal hemoglobinuria type 2"], "xref": ["GARD:0015958", "MEDGEN:815699", "OMIM:615399", "UMLS:C3809369"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.", "id": "MONDO:0014167", "name": "Epilepsy, familial adult myoclonic, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CNTN2 epilepsy, familial adult myoclonic", "epilepsy, familial adult myoclonic caused by mutation in CNTN2", "epilepsy, familial adult myoclonic, 5", "epilepsy, familial adult myoclonic, type 5", "epilepsy, myoclonic, familial adult, 5"], "xref": ["DOID:0111691", "GARD:0018086", "MEDGEN:815704", "OMIM:615400", "UMLS:C3809374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014168", "name": "Severe combined immunodeficiency due to coro1a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID due to CORO1A deficiency", "SCID due to coronin-1A deficiency", "coronin-1A deficiency", "immunodeficiency type 8", "severe combined immunodeficiency due to CORO1A deficiency", "severe combined immunodeficiency due to coronin-1A deficiency"], "xref": ["DOID:0060019", "GARD:0017144", "MEDGEN:815713", "OMIM:615401", "Orphanet:228003", "UMLS:C3809383", "icd11.foundation:575769539"]}
{"category": ["biolink:Disease"], "description": "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.", "id": "MONDO:0014169", "name": "Dyschromatosis universalis hereditaria 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ABCB6 dyschromatosis universalis hereditaria", "dyschromatosis universalis hereditaria 3", "dyschromatosis universalis hereditaria caused by mutation in ABCB6", "dyschromatosis universalis hereditaria type 3"], "xref": ["GARD:0015959", "MEDGEN:815724", "OMIM:615402", "UMLS:C3809394"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.", "id": "MONDO:0014170", "name": "Complex cortical dysplasia with other brain malformations 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CDCBM3", "KIF2A complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A", "complex cortical dysplasia with other brain malformations type 3", "cortical dysplasia, Complex, with Other brain malformations type 3"], "xref": ["DOID:0090134", "MEDGEN:815744", "OMIM:615411", "UMLS:C3809414"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.", "id": "MONDO:0014171", "name": "Complex cortical dysplasia with other brain malformations 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CDCBM4", "TUBG1 complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1", "complex cortical dysplasia with other brain malformations type 4", "cortical dysplasia, Complex, with Other brain malformations type 4"], "xref": ["DOID:0090138", "MEDGEN:815750", "OMIM:615412", "UMLS:C3809420"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.", "id": "MONDO:0014172", "name": "Spermatogenic failure 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NANOS1 azoospermia", "azoospermia caused by mutation in NANOS1", "spermatogenic failure 12", "spermatogenic failure type 12"], "xref": ["DOID:0070171", "GARD:0015960", "MEDGEN:815757", "OMIM:615413", "UMLS:C3809427"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.", "id": "MONDO:0014173", "name": "Microcephaly 11, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PHC1 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in PHC1", "microcephaly 11, primary, autosomal recessive"], "xref": ["DOID:0070287", "GARD:0024977", "MEDGEN:815761", "OMIM:615414", "UMLS:C3809431"]}
{"category": ["biolink:Disease"], "description": "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.", "id": "MONDO:0014174", "name": "Renal-hepatic-pancreatic dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEK8 renal-hepatic-pancreatic dysplasia", "renal-hepatic-pancreatic dysplasia 2", "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8", "renal-hepatic-pancreatic dysplasia type 2"], "xref": ["GARD:0018432", "MEDGEN:815764", "OMIM:615415", "UMLS:C3809434"]}
{"category": ["biolink:Disease"], "description": "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.", "id": "MONDO:0014175", "name": "Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTDPS12B", "mitochondrial DNA depletion syndrome 12", "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR", "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR", "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"], "xref": ["DOID:0080335", "GARD:0015961", "MEDGEN:815773", "NCIT:C129977", "OMIM:615418", "UMLS:C3809443"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).", "id": "MONDO:0014176", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["IHPRF", "IHPRF syndrome", "hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia-speech impairment-severe cognitive delay syndrome", "infantile hypotonia-psychomotor retardation-characteristic facies syndrome"], "xref": ["GARD:0017609", "MEDGEN:1642314", "OMIMPS:615419", "Orphanet:371364", "UMLS:C4706556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014177", "name": "Myopia 22, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopia 22, autosomal dominant"], "xref": ["MEDGEN:815794", "OMIM:615420", "UMLS:C3809464"]}
{"category": ["biolink:Disease"], "description": "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.", "id": "MONDO:0014178", "name": "Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2"], "xref": ["DOID:0111384", "GARD:0015962", "MEDGEN:815798", "OMIM:615422", "UMLS:C3809468"]}
{"category": ["biolink:Disease"], "description": "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.", "id": "MONDO:0014179", "name": "Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3", "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3"], "xref": ["DOID:0111386", "GARD:0015963", "MEDGEN:815799", "OMIM:615424", "UMLS:C3809469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014180", "name": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DST-related epidermolysis bullosa simplex", "EBS-AR BP230", "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency", "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency", "epidermolysis bullosa simplex due to BP230 deficiency", "epidermolysis bullosa simplex, autosomal recessive type 2"], "xref": ["GARD:0017690", "MEDGEN:815800", "OMIM:615425", "Orphanet:412181", "UMLS:C3809470"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.", "id": "MONDO:0014181", "name": "Amyotrophic lateral sclerosis type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS20", "HNRNPA1 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 20", "amyotrophic lateral sclerosis caused by mutation in HNRNPA1", "amyotrophic lateral sclerosis type 20"], "xref": ["DOID:0060211", "GARD:0015964", "MEDGEN:811608", "OMIM:615426", "UMLS:C3715156"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.", "id": "MONDO:0014182", "name": "Autosomal recessive nonsyndromic hearing loss 88", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110533", "GARD:0022649", "MEDGEN:811084", "OMIM:615429", "UMLS:C2829267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014183", "name": "Myopia 23, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myopia 23, autosomal recessive"], "xref": ["GARD:0018198", "MEDGEN:815812", "OMIM:615431", "UMLS:C3809482"]}
{"category": ["biolink:Disease"], "description": "A communication disorder that involves the processing of linguistic information.", "id": "MONDO:0014184", "name": "Specific language impairment 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar"], "synonym": ["SLI5", "specific language impairment 5", "specific language impairment type 5"], "xref": ["EFO:0005425", "MEDGEN:815813", "OMIM:615432", "UMLS:C3809483"]}
{"category": ["biolink:Disease"], "description": "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.", "id": "MONDO:0014185", "name": "Chromosome 3q13.31 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3q13 microdeletion syndrome", "Del(3)(q13)", "chromosome 3q13.31 deletion syndrome", "monosomy 3q13"], "xref": ["DOID:0060418", "GARD:0016573", "MEDGEN:815820", "MESH:C536808", "OMIM:615433", "Orphanet:1621", "SCTID:726705007", "UMLS:C3809490"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.", "id": "MONDO:0014186", "name": "Retinitis pigmentosa with or without situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARL2BP retinitis pigmentosa", "retinitis pigmentosa caused by mutation in ARL2BP", "retinitis pigmentosa with or without situs inversus"], "xref": ["DOID:0110419", "GARD:0015965", "MEDGEN:1658130", "OMIM:615434", "UMLS:C4747737"]}
{"category": ["biolink:Disease"], "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.", "id": "MONDO:0014187", "name": "Aortic aneurysm, familial thoracic 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRKG1 familial thoracic aortic aneurysm and aortic dissection", "aortic aneurysm, familial thoracic 8", "aortic aneurysm, familial thoracic type 8", "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1"], "xref": ["GARD:0015966", "MEDGEN:815843", "OMIM:615436", "UMLS:C3809513"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.", "id": "MONDO:0014190", "name": "Combined oxidative phosphorylation defect type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD17", "ELAC2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in ELAC2", "combined oxidative phosphorylation deficiency type 17"], "xref": ["DOID:0111496", "GARD:0017589", "MEDGEN:815856", "OMIM:615440", "Orphanet:369913", "UMLS:C3809526"]}
{"category": ["biolink:Disease"], "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.", "id": "MONDO:0014191", "name": "Catecholaminergic polymorphic ventricular tachycardia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TRDN catecholaminergic polymorphic ventricular tachycardia", "cardiac arrhythmia syndrome, with or without skeletal muscle weakness", "catecholaminergic polymorphic ventricular tachycardia 5", "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN", "catecholaminergic polymorphic ventricular tachycardia type 5"], "xref": ["DOID:0060679", "GARD:0015967", "MEDGEN:815866", "OMIM:615441", "UMLS:C3809536"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.", "id": "MONDO:0014192", "name": "Primary ciliary dyskinesia 22", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD22", "ZMYND10 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 22", "primary ciliary dyskinesia caused by mutation in ZMYND10", "primary ciliary dyskinesia type 22"], "xref": ["DOID:0110597", "GARD:0015968", "MEDGEN:815873", "OMIM:615444", "UMLS:C3809543"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.", "id": "MONDO:0014193", "name": "Primary ciliary dyskinesia 23", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARMC4 primary ciliary dyskinesia", "CILD23", "ciliary dyskinesia, primary, type 23", "primary ciliary dyskinesia caused by mutation in ARMC4", "primary ciliary dyskinesia type 23"], "xref": ["DOID:0110609", "GARD:0015969", "MEDGEN:815878", "OMIM:615451", "UMLS:C3809548"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.", "id": "MONDO:0014194", "name": "Mitochondrial complex iii deficiency nuclear type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CYC1 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in CYC1"], "xref": ["DOID:0080115", "GARD:0015970", "MEDGEN:815883", "OMIM:615453", "UMLS:C3809553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014195", "name": "Microcornea-myopic chorioretinal atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMCAT syndrome", "microcornea-myopic chorioretinal atrophy", "microcornea-myopic chorioretinal atrophy-telecanthus syndrome"], "xref": ["GARD:0017593", "MEDGEN:815897", "OMIM:615458", "Orphanet:369970", "UMLS:C3809567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014196", "name": "Hartsfield-bixler-demyer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hartsfield-Bixler-Demyer syndrome", "holoprosencephaly-ectrodactyly-cleft lip palate syndrome", "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome"], "xref": ["GARD:0002725", "MEDGEN:335111", "MESH:C564484", "OMIM:615465", "Orphanet:2117", "SCTID:766032007", "UMLS:C1845146"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.", "id": "MONDO:0014197", "name": "Combined immunodeficiency due to malt1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined immunodeficiency due to MALT1 deficiency", "immunodeficiency type 12"], "xref": ["DOID:0111988", "GARD:0017647", "MEDGEN:815913", "OMIM:615468", "Orphanet:397964", "UMLS:C3809583"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.", "id": "MONDO:0014198", "name": "Mitochondrial dna depletion syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FBXL4 mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome caused by mutation in FBXL4", "mitochondrial DNA depletion syndrome type 13", "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"], "xref": ["DOID:0080131", "GARD:0013298", "MEDGEN:815922", "NCIT:C172095", "OMIM:615471", "Orphanet:369897", "SCTID:765403009", "UMLS:C3809592"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.", "id": "MONDO:0014199", "name": "Developmental and epileptic encephalopathy, 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE17", "EIEE17", "GNAO1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 17", "early infantile epileptic encephalopathy caused by mutation in GNAO1", "early infantile epileptic encephalopathy-17", "epileptic encephalopathy, early infantile, 17", "epileptic encephalopathy, early infantile, type 17"], "xref": ["DOID:0080450", "GARD:0013378", "MEDGEN:815936", "OMIM:615473", "UMLS:C3809606"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects.", "id": "MONDO:0014200", "name": "Aldosterone-producing adenoma with seizures and neurological abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APA with seizures and neurological abnormalities", "Conn adenoma with seizures and neurological abnormalities", "aldosterone-secreting adenoma with seizures and neurological abnormalities", "complex neurodevelopmental disorder with or without aldosteronism", "primary aldosteronism, seizures, and neurologic abnormalities"], "xref": ["GARD:0017591", "MEDGEN:815939", "OMIM:615474", "Orphanet:369929", "UMLS:C3809609"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014201", "name": "Developmental and epileptic encephalopathy, 18", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE18", "EIEE18", "developmental and epileptic encephalopathy 18", "early infantile epileptic encephalopathy without suppression burst", "epileptic encephalopathy, early infantile, 18", "epileptic encephalopathy, early infantile, type 18"], "xref": ["DOID:0080413", "GARD:0013676", "MEDGEN:815954", "OMIM:615476", "Orphanet:369894", "UMLS:C3809624"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.", "id": "MONDO:0014202", "name": "Primary ciliary dyskinesia 24", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD24", "RSPH1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 24", "primary ciliary dyskinesia 24", "primary ciliary dyskinesia caused by mutation in RSPH1", "primary ciliary dyskinesia type 24"], "xref": ["DOID:0110628", "GARD:0015971", "MEDGEN:815964", "OMIM:615481", "UMLS:C3809634"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.", "id": "MONDO:0014203", "name": "Primary ciliary dyskinesia 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD25", "DNAAF4 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 25", "primary ciliary dyskinesia caused by mutation in DNAAF4", "primary ciliary dyskinesia type 25"], "xref": ["DOID:0110615", "GARD:0015972", "MEDGEN:815971", "OMIM:615482", "UMLS:C3809641"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014204", "name": "Basal ganglia calcification, idiopathic, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["basal ganglia calcification, idiopathic, 5", "basal ganglia calcification, idiopathic, type 5"], "xref": ["GARD:0015973", "MEDGEN:815975", "OMIM:615483", "UMLS:C3809645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014205", "name": "Bainbridge-Roppers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASXL3-Related Disorder", "Bainbridge-Roppers syndrome", "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"], "xref": ["DOID:0080893", "GARD:0013259", "MEDGEN:1656239", "NORD:139551", "OMIM:615485", "Orphanet:352577", "UMLS:C4750837"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014206", "name": "Severe early-onset pulmonary alveolar proteinosis due to mars deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAP, Reunion island type", "hereditary pulmonary alveolar proteinosis with hepatic involvement", "interstitial lung and liver disease", "pulmonary alveolar proteinosis, Reunion island type"], "xref": ["GARD:0017746", "MEDGEN:895551", "OMIM:615486", "Orphanet:440427", "UMLS:C4225400"]}
{"category": ["biolink:Disease"], "description": "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.", "id": "MONDO:0014207", "name": "Age related macular degeneration 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ARMD14", "age related macular degeneration type 14", "macular Degeneration, age-related, type 14", "macular degeneration, age-related, 14, reduced risk of, digenic dominant"], "xref": ["DOID:0110026", "GARD:0024978", "MEDGEN:815983", "OMIM:615489", "UMLS:C3809653"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.", "id": "MONDO:0014208", "name": "Charcot-marie-tooth disease type 2r", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2R", "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2", "Charcot-Marie-Tooth disease type 2R", "Charcot-Marie-Tooth disease, type 2R", "TRIM2 Charcot-Marie-Tooth disease type 2"], "xref": ["DOID:0110161", "GARD:0012451", "MEDGEN:815985", "OMIM:615490", "Orphanet:397968", "UMLS:C3809655"]}
{"category": ["biolink:Disease"], "description": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.", "id": "MONDO:0014209", "name": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112344", "GARD:0017523", "MEDGEN:815995", "OMIM:615491", "Orphanet:352654", "UMLS:C3809665"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014210", "name": "Intellectual disability-hypotonia-spasticity-sleep disorder syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive type 37", "mental retardation, autosomal recessive type 37", "mental retardation, autosomal recessive, 37"], "xref": ["DOID:0081202", "GARD:0017541", "MEDGEN:816002", "OMIM:615493", "Orphanet:356996", "UMLS:C3809672"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.", "id": "MONDO:0014211", "name": "Primary ciliary dyskinesia 26", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CFAP298 primary ciliary dyskinesia", "CILD26", "ciliary dyskinesia, primary, type 26", "primary ciliary dyskinesia caused by mutation in CFAP298", "primary ciliary dyskinesia type 26"], "xref": ["DOID:0110627", "GARD:0015974", "MEDGEN:816014", "OMIM:615500", "UMLS:C3809684"]}
{"category": ["biolink:Disease"], "description": "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.", "id": "MONDO:0014212", "name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type c", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MOCOD type C", "MOCODC", "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C", "molybdenum cofactor deficiency C", "molybdenum cofactor deficiency, complementation group type C"], "xref": ["DOID:0111166", "GARD:0017388", "MEDGEN:340761", "MESH:C565374", "OMIM:615501", "Orphanet:308400", "PMID:11095995", "UMLS:C1854990"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.", "id": "MONDO:0014213", "name": "Ctcf-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD21", "intellectual development disorder, autosomal dominant 21", "intellectual disability, autosomal dominant 21", "intellectual disability, autosomal dominant type 21", "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "mental retardation, autosomal dominant 21", "mental retardation, autosomal dominant type 21"], "xref": ["DOID:0070051", "GARD:0017566", "MEDGEN:816016", "OMIM:615502", "Orphanet:363611", "UMLS:C3809686"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.", "id": "MONDO:0014214", "name": "Short-rib thoracic dysplasia 8 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRPS6", "SRTD8", "short-rib thoracic dysplasia 8 with or without polydactyly"], "xref": ["DOID:0110094", "GARD:0015975", "MEDGEN:816021", "OMIM:615503", "UMLS:C3809691"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.", "id": "MONDO:0014215", "name": "Primary ciliary dyskinesia 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC65 primary ciliary dyskinesia", "CILD27", "ciliary dyskinesia, primary, type 27", "primary ciliary dyskinesia caused by mutation in CCDC65", "primary ciliary dyskinesia type 27"], "xref": ["DOID:0110611", "GARD:0015976", "MEDGEN:816031", "OMIM:615504", "UMLS:C3809701"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.", "id": "MONDO:0014216", "name": "Primary ciliary dyskinesia 28", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD28", "SPAG1 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 28", "primary ciliary dyskinesia caused by mutation in SPAG1", "primary ciliary dyskinesia type 28"], "xref": ["DOID:0110607", "GARD:0015977", "MEDGEN:816036", "OMIM:615505", "UMLS:C3809706"]}
{"category": ["biolink:Disease"], "description": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.", "id": "MONDO:0014217", "name": "Telangiectasia, hereditary hemorrhagic, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GDF2 hereditary hemorrhagic telangiectasia", "GDF2 related HHT-like syndrome", "hereditary hemorrhagic telangiectasia caused by mutation in GDF2", "telangiectasia, hereditary hemorrhagic, type 5"], "xref": ["GARD:0015978", "MEDGEN:816040", "OMIM:615506", "UMLS:C3809710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014218", "name": "Severe dermatitis-multiple allergies-metabolic wasting syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SAM syndrome", "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome", "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"], "xref": ["GARD:0017594", "MEDGEN:816049", "OMIM:615508", "Orphanet:369992", "UMLS:C3809719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014219", "name": "Alacrima, achalasia, and intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["alacrima, achalasia, and intellectual disability syndrome", "alacrima, achalasia, and mental retardation syndrome"], "xref": ["DOID:0112321", "GARD:0012404", "MEDGEN:1640947", "OMIM:615510", "UMLS:C4706563"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014220", "name": "Myopathy due to myoadenylate deaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["myopathy due to myoadenylate deaminase deficiency"], "xref": ["GARD:0015248", "MEDGEN:811508", "NCIT:C157504", "OMIM:615511", "UMLS:C3714933"]}
{"category": ["biolink:Disease"], "description": "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.", "id": "MONDO:0014221", "name": "Triosephosphate isomerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemolytic anaemia due to triosephosphate isomerase deficiency", "hemolytic anemia due to triosephosphate isomerase deficiency", "triose phosphate-isomerase deficiency", "triosephosphate isomerase deficiency"], "xref": ["DOID:0050884", "GARD:0005287", "ICD9:282.3", "MEDGEN:349893", "MESH:C566029", "NCIT:C131652", "NORD:1793", "OMIM:615512", "Orphanet:868", "SCTID:234405009", "UMLS:C1860808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014222", "name": "Immunodeficiency 14", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)", "immunodeficiency 14", "immunodeficiency 14A, autosomal dominant", "immunodeficiency type 14"], "xref": ["DOID:0111936", "GARD:0015979", "MEDGEN:811535", "NORD:111933", "OMIM:615513", "Orphanet:693661", "UMLS:C3714976"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.", "id": "MONDO:0014223", "name": "Amyotrophic lateral sclerosis type 19", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS19", "ERBB4 amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 19", "amyotrophic lateral sclerosis caused by mutation in ERBB4", "amyotrophic lateral sclerosis type 19"], "xref": ["DOID:0060210", "GARD:0015980", "MEDGEN:811607", "OMIM:615515", "UMLS:C3715155"]}
{"category": ["biolink:Disease"], "description": "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.", "id": "MONDO:0014224", "name": "Developmental delay with autism spectrum disorder and gait instability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["developmental delay with ASD and gait instability", "intellectual developmental disorder, autosomal recessive 38", "intellectual disability, autosomal recessive type 38", "mental retardation, autosomal recessive type 38"], "xref": ["DOID:0081203", "GARD:0017496", "MEDGEN:816083", "OMIM:615516", "Orphanet:329195", "UMLS:C3809753"]}
{"category": ["biolink:Disease"], "description": "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.", "id": "MONDO:0014225", "name": "Hemochromatosis type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:merged_class", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FTH1 hereditary hemochromatosis", "FTH1-associated iron overload", "FTH1-related iron overload", "HFE5", "hereditary hemochromatosis caused by mutation in FTH1"], "xref": ["DOID:0111031", "GARD:0013472", "MEDGEN:341982", "MESH:C565020", "OMIM:615517", "Orphanet:247790", "Orphanet:447792", "UMLS:C1851316"]}
{"category": ["biolink:Disease"], "description": "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.", "id": "MONDO:0014226", "name": "Idiopathic cd4 lymphocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency type 13"], "xref": ["DOID:0111987", "GARD:0012375", "MEDGEN:816098", "OMIM:615518", "Orphanet:228000", "SCTID:763713000", "UMLS:C3809768", "icd11.foundation:1639000446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014227", "name": "Hypopigmentation-punctate palmoplantar keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cole disease", "guttate hypopigmentation and punctate palmoplantar keratoderma", "hypopigmentation and punctate keratosis of the palms and soles"], "xref": ["GARD:0012384", "ICD9:757.39", "MEDGEN:816111", "OMIM:615522", "Orphanet:324561", "SCTID:711154007", "UMLS:C3809781"]}
{"category": ["biolink:Disease"], "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.", "id": "MONDO:0014228", "name": "Corneal dystrophy, fuchs endothelial, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGBL1 Fuchs' endothelial dystrophy", "Fuchs' endothelial dystrophy caused by mutation in AGBL1", "corneal dystrophy, Fuchs endothelial, 8", "corneal dystrophy, Fuchs endothelial, type 8"], "xref": ["GARD:0018223", "MEDGEN:816128", "OMIM:615523", "UMLS:C3809798"]}
{"category": ["biolink:Disease"], "description": "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.", "id": "MONDO:0014229", "name": "Microphthalmia, syndromic 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RARB syndromic microphthalmia", "microphthalmia, syndromic 12", "microphthalmia, syndromic type 12", "syndromic microphthalmia caused by mutation in RARB"], "xref": ["DOID:0111800", "GARD:0013235", "MEDGEN:816133", "OMIM:615524", "Orphanet:689829", "UMLS:C3809803"]}
{"category": ["biolink:Disease"], "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.", "id": "MONDO:0014230", "name": "Candidiasis, familial, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TRAF3IP2 chronic mucocutaneous candidiasis (disease)", "candidiasis, familial, 8", "candidiasis, familial, type 8", "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2"], "xref": ["GARD:0015981", "MEDGEN:811541", "OMIM:615527", "UMLS:C3714992"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.", "id": "MONDO:0014231", "name": "Juvenile onset parkinson disease 19a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DNAJC6 Parkinson disease", "Parkinson disease caused by mutation in DNAJC6", "juvenile onset Parkinson disease 19A", "juvenile onset Parkinson disease type 19A"], "xref": ["DOID:0060891", "GARD:0018461", "MEDGEN:816141", "OMIM:615528", "UMLS:C3809811"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.", "id": "MONDO:0014233", "name": "Early-onset parkinson disease 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Parkinson disease caused by mutation in SYNJ1", "SYNJ1 Parkinson disease", "early-onset Parkinson disease type 20"], "xref": ["DOID:0060898", "GARD:0018462", "MEDGEN:816154", "OMIM:615530", "UMLS:C3809824"]}
{"category": ["biolink:Disease"], "description": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.", "id": "MONDO:0014234", "name": "Reticulate acropigmentation of kitamura", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["reticulate acropigmentation of Kitamura"], "xref": ["DOID:0060258", "GARD:0017079", "ICD9:709.09", "MEDGEN:98363", "OMIM:615537", "Orphanet:178307", "SCTID:239133004", "UMLS:C0406811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014235", "name": "Chromosome 22q13 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 22q13 duplication syndrome", "chromosome 22q13 duplication syndrome, isolated cases"], "xref": ["DOID:0060437", "GARD:0024979", "MEDGEN:816174", "OMIM:615538", "UMLS:C3809844"]}
{"category": ["biolink:Disease"], "description": "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.", "id": "MONDO:0014236", "name": "Ehlers-danlos syndrome, musculocontractural type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DSE Ehlers-Danlos syndrome, musculocontractural type", "Ehlers-Danlos syndrome, musculocontractural type 2", "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE"], "xref": ["DOID:0080735", "DOID:0080737", "GARD:0015982", "MEDGEN:816175", "OMIM:615539", "UMLS:C3809845"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.", "id": "MONDO:0014237", "name": "Autosomal recessive nonsyndromic hearing loss 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 76"], "xref": ["DOID:0110524", "GARD:0022650", "MEDGEN:811137", "OMIM:615540", "UMLS:C3147083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014238", "name": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive type 39", "mental retardation, autosomal recessive type 39"], "xref": ["DOID:0081204", "GARD:0017611", "MEDGEN:816183", "OMIM:615541", "Orphanet:391307", "UMLS:C3809853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014239", "name": "Testicular anomalies with or without congenital heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["testicular anomalies with or without congenital heart disease"], "xref": ["GARD:0018360", "MEDGEN:816188", "OMIM:615542", "UMLS:C3809858"]}
{"category": ["biolink:Disease"], "description": "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.", "id": "MONDO:0014240", "name": "Periventricular nodular heterotopia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERMARD periventricular nodular heterotopia", "periventricular nodular heterotopia 6", "periventricular nodular heterotopia caused by mutation in ERMARD", "periventricular nodular heterotopia type 6"], "xref": ["DOID:0061269", "GARD:0015983", "MEDGEN:816202", "OMIM:615544", "UMLS:C3809872"]}
{"category": ["biolink:Disease"], "description": "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.", "id": "MONDO:0014241", "name": "Leukemia, acute lymphoblastic, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["PAX5 precursor B-cell acute lymphoblastic leukaemia", "PAX5 precursor B-cell acute lymphoblastic leukemia", "PAX5-related leukemia predisposition", "leukemia, acute lymphoblastic, susceptibility to, 3", "leukemia, acute lymphoblastic, susceptibility to, type 3", "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5", "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5"], "xref": ["GARD:0027857", "MEDGEN:816204", "OMIM:615545", "UMLS:C3809874"]}
{"category": ["biolink:Disease"], "description": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.", "id": "MONDO:0014242", "name": "Van maldergem syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FAT4 van Maldergem syndrome", "Van Maldergem syndrome type 2", "van Maldergem syndrome 2", "van Maldergem syndrome caused by mutation in FAT4"], "xref": ["DOID:0080586", "GARD:0015984", "MEDGEN:816205", "OMIM:615546", "UMLS:C3809875"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014243", "name": "Schaaf-yang syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHFYNG", "Schaaf-Yang syndrome", "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies", "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies"], "xref": ["DOID:0111715", "GARD:0013316", "MEDGEN:1807366", "MESH:C535385", "OMIM:208080", "OMIM:615547", "Orphanet:398069", "UMLS:C5575066"]}
{"category": ["biolink:Disease"], "description": "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'", "id": "MONDO:0014244", "name": "Hereditary sensory and autonomic neuropathy type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CIP with hyperhidrosis and gastrointestinal dysfunction", "HSAN with hyperhidrosis and gastrointestinal dysfunction", "HSAN7", "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy", "SCN11A-CIP", "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A", "congenital insensitivity to pain with gastrointestinal dysfunction", "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction", "hereditary sensory and autonomic neuropathy type VII", "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"], "xref": ["DOID:0070149", "GARD:0012732", "MEDGEN:816212", "NCIT:C125388", "OMIM:615548", "Orphanet:391397", "UMLS:C3809882"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.", "id": "MONDO:0014245", "name": "Diamond-blackfan anemia 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 12", "Diamond-Blackfan Anemia type 12", "Diamond-Blackfan anaemia caused by mutation in RPL15", "Diamond-Blackfan anemia 12", "Diamond-Blackfan anemia caused by mutation in RPL15", "RPL15 Diamond-Blackfan anaemia", "RPL15 Diamond-Blackfan anemia"], "xref": ["DOID:0111882", "GARD:0015985", "MEDGEN:816218", "OMIM:615550", "UMLS:C3809888"]}
{"category": ["biolink:Disease"], "description": "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.", "id": "MONDO:0014246", "name": "Episodic pain syndrome, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCN10A familial episodic pain syndrome", "episodic pain syndrome, familial, 2", "episodic pain syndrome, familial, type 2", "familial episodic pain syndrome caused by mutation in SCN10A"], "xref": ["DOID:0111730", "GARD:0018440", "MEDGEN:816223", "OMIM:615551", "UMLS:C3809893"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.", "id": "MONDO:0014247", "name": "Familial episodic pain syndrome with predominantly lower limb involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["episodic pain syndrome, familial, type 3"], "xref": ["DOID:0111731", "GARD:0017619", "MEDGEN:816229", "NCIT:C125390", "OMIM:615552", "Orphanet:391392", "UMLS:C3809899"]}
{"category": ["biolink:Disease"], "description": "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).", "id": "MONDO:0014248", "name": "Autism spectrum disorder - epilepsy - arthrogryposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLC35A3-CDG", "arthrogryposis, impaired intellectual development, and seizures"], "xref": ["GARD:0017604", "MEDGEN:816240", "OMIM:615553", "Orphanet:370943", "UMLS:C3809910"]}
{"category": ["biolink:Disease"], "description": "Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.", "id": "MONDO:0014249", "name": "Multiple fibroadenoma of the breast", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mammary polyadenomatosis"], "xref": ["GARD:0024980", "MEDGEN:816248", "OMIM:615554", "Orphanet:50920", "UMLS:C3809918"]}
{"category": ["biolink:Disease"], "description": "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.", "id": "MONDO:0014250", "name": "Familial hyperprolactinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial hyperprolactinemia", "familial isolated prolactin receptor deficiency", "hereditary hyperprolactinemia (disease)"], "xref": ["GARD:0017634", "MEDGEN:1645317", "OMIM:615555", "Orphanet:397685", "SCTID:763715007", "UMLS:C4706551"]}
{"category": ["biolink:Disease"], "description": "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.", "id": "MONDO:0014252", "name": "Familial defective apolipoprotein B-100", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["APOB hypobetalipoproteinemia", "FHBL1", "familial hypobetalipoproteinemia 1", "familial hypobetalipoproteinemia type 1", "hypobetalipoproteinemia caused by mutation in APOB", "hypobetalipoproteinemia, familial, type 1"], "xref": ["DOID:0111062", "GARD:0002876", "MEDGEN:1639219", "MESH:C566267", "NANDO:1201037", "OMIM:615558", "SCTID:60193003", "UMLS:C4551990"]}
{"category": ["biolink:Disease"], "description": "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.", "id": "MONDO:0014254", "name": "Otofaciocervical syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PAX1 otofaciocervical syndrome", "otofaciocervical syndrome 2", "otofaciocervical syndrome caused by mutation in PAX1", "otofaciocervical syndrome type 2"], "xref": ["GARD:0016503", "MEDGEN:1782278", "OMIM:615560", "UMLS:C5442121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014255", "name": "Complement factor b deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["complement factor b deficiency"], "xref": ["MEDGEN:816280", "NANDO:2200797", "OMIM:615561", "UMLS:C3809950"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.", "id": "MONDO:0014256", "name": "Retinitis pigmentosa 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NEK2 retinitis pigmentosa", "RP67", "retinitis pigmentosa 67", "retinitis pigmentosa caused by mutation in NEK2", "retinitis pigmentosa type 67"], "xref": ["DOID:0110359", "GARD:0015988", "MEDGEN:816284", "OMIM:615565", "UMLS:C3809954"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.", "id": "MONDO:0014257", "name": "Nephrotic syndrome, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COQ8B nephrotic syndrome", "nephrotic syndrome caused by mutation in COQ8B", "nephrotic syndrome, type 9"], "xref": ["DOID:0080391", "GARD:0015989", "MEDGEN:816295", "OMIM:615573", "UMLS:C3809965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014258", "name": "Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["asparagine synthetase deficiency", "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"], "xref": ["GARD:0017617", "MEDGEN:816301", "OMIM:615574", "Orphanet:391376", "UMLS:C3809971"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.", "id": "MONDO:0014259", "name": "Neuronopathy, distal hereditary motor, type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FBXO38 neuronopathy, distal hereditary motor", "neuronopathy, distal hereditary motor caused by mutation in FBXO38"], "xref": ["DOID:0111210", "GARD:0018265", "MEDGEN:854832", "OMIM:615575", "UMLS:C3888271"]}
{"category": ["biolink:Disease"], "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.", "id": "MONDO:0014260", "name": "Immunodeficiency, common variable, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["NFKB2 common variable immunodeficiency", "common variable immunodeficiency caused by mutation in NFKB2", "immunodeficiency, common variable, 10", "immunodeficiency, common variable, type 10"], "xref": ["DOID:0081152", "GARD:0015990", "MEDGEN:816321", "OMIM:615577", "UMLS:C3809991"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.", "id": "MONDO:0014261", "name": "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SFXN4 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in SFXN4", "combined oxidative phosphorylation deficiency type 18"], "xref": ["DOID:0111484", "GARD:0017615", "MEDGEN:816331", "OMIM:615578", "Orphanet:391348", "UMLS:C3810001"]}
{"category": ["biolink:Disease"], "description": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.", "id": "MONDO:0014262", "name": "Rienhoff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Loeys-Dietz syndrome type 5", "Rienhoff syndrome"], "xref": ["DOID:0070236", "EFO:1000012", "GARD:0012356", "MEDGEN:816342", "OMIM:615582", "UMLS:C3810012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014263", "name": "8q24.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Verheij syndrome"], "xref": ["GARD:0012814", "MEDGEN:816353", "OMIM:615583", "Orphanet:508488", "UMLS:C3810023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014264", "name": "Otosclerosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSC10", "otosclerosis 10"], "xref": ["DOID:0060927", "GARD:0024981", "MEDGEN:854867", "OMIM:615589", "UMLS:C3888339"]}
{"category": ["biolink:Disease"], "description": "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.", "id": "MONDO:0014265", "name": "Alzheimer disease 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["AD18", "ADAM10 Alzheimer disease", "Alzheimer disease 18", "Alzheimer disease caused by mutation in ADAM10", "Alzheimer disease type 18", "Alzheimer's disease 18", "Alzheimer's disease type 18"], "xref": ["DOID:0110050", "GARD:0024982", "MEDGEN:816371", "OMIM:615590", "UMLS:C3810041"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.", "id": "MONDO:0014267", "name": "Severe combined immunodeficiency due to ikk2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID due to IKK2 deficiency", "immunodeficiency 15B", "immunodeficiency type 15"], "xref": ["DOID:0111959", "GARD:0017641", "MEDGEN:1648569", "OMIM:615592", "Orphanet:397787", "UMLS:C4747743"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.", "id": "MONDO:0014268", "name": "Combined immunodeficiency due to ox40 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined immunodeficiency with childhood-onset Kaposi sarcoma", "combined immunodeficiency with impaired immunity to HHV-8", "combined immunodeficiency with impaired immunity to human herpes virus 8", "immunodeficiency type 16"], "xref": ["DOID:0111935", "GARD:0017710", "MEDGEN:816383", "OMIM:615593", "Orphanet:431149", "SCTID:766879006", "UMLS:C3810053"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.", "id": "MONDO:0014269", "name": "Combined oxidative phosphorylation deficiency 19", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LYRM4 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 19", "combined oxidative phosphorylation deficiency caused by mutation in LYRM4", "combined oxidative phosphorylation deficiency type 19"], "xref": ["DOID:0111476", "GARD:0018466", "MEDGEN:816385", "OMIM:615595", "UMLS:C3810055"]}
{"category": ["biolink:Disease"], "description": "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).", "id": "MONDO:0014270", "name": "Stt3a-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type Iw", "CDG-Iw", "CDG1W", "STT3A-CDG", "STT3A-congenital disorder of glycosylation", "congenital disorder of glycosylation type 1w", "congenital disorder of glycosylation type Iw", "congenital disorder of glycosylation, type Iw, autosomal recessive"], "xref": ["DOID:0080572", "GARD:0017602", "MEDGEN:1794145", "OMIM:615596", "Orphanet:370921", "SCTID:733111000", "UMLS:C5561935"]}
{"category": ["biolink:Disease"], "description": "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).", "id": "MONDO:0014271", "name": "Stt3b-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IX", "CDG-Ix", "CDG1X", "STT3B-CDG", "STT3B-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IX", "congenital disorder of glycosylation type 1x", "congenital disorder of glycosylation type IX"], "xref": ["DOID:0080573", "GARD:0017603", "MEDGEN:419309", "MESH:C535751", "OMIM:615597", "Orphanet:370924", "SCTID:733112007", "UMLS:C2931007"]}
{"category": ["biolink:Disease"], "description": "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.", "id": "MONDO:0014272", "name": "Palmoplantar keratoderma, nagashima type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPK, Nagashima type", "palmoplantar hyperkeratosis, Nagashima type", "palmoplantar keratoderma, Nagashima type"], "xref": ["DOID:0070555", "GARD:0016967", "MEDGEN:816402", "OMIM:615598", "Orphanet:140966", "SCTID:722205008", "UMLS:C3810072"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.", "id": "MONDO:0014273", "name": "Microcephaly-thin corpus callosum-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, autosomal recessive 40", "intellectual disability, autosomal recessive type 40", "mental retardation, autosomal recessive type 40", "microcephaly-thin corpus callosum-intellectual disability syndrome"], "xref": ["DOID:0081205", "GARD:0017645", "MEDGEN:816410", "OMIM:615599", "Orphanet:397951", "UMLS:C3810080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014274", "name": "L-ferritin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_biological_anomaly", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["L-ferritin deficiency", "L-ferritin deficiency, dominant and recessive"], "xref": ["GARD:0017748", "MEDGEN:816420", "OMIM:615604", "Orphanet:440731", "UMLS:C3810090"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", "id": "MONDO:0014275", "name": "Fanconi renotubular syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EHHADH Fanconi syndrome", "Fanconi renotubular syndrome 3", "Fanconi renotubular syndrome type 3", "Fanconi syndrome caused by mutation in EHHADH"], "xref": ["DOID:0080759", "GARD:0015991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"]}
{"category": ["biolink:Disease"], "description": "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.", "id": "MONDO:0014276", "name": "Combined immunodeficiency due to cd3gamma deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD3 deficiency", "CD3-gamma deficiency", "CD3gamma deficiency", "IMD17", "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive", "combined immunodeficiency due to CD3gamma deficiency", "immunodeficiency 17", "immunodeficiency type 17"], "xref": ["DOID:0060018", "DOID:0111973", "GARD:0017046", "MEDGEN:816437", "OMIM:615607", "Orphanet:169082", "SCTID:725135004", "UMLS:C3810107"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014277", "name": "Developmental dysplasia of the hip 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DDH2", "developmental dysplasia of the hip 2"], "xref": ["DOID:0060932", "MEDGEN:811575", "OMIM:615612", "UMLS:C3715079"]}
{"category": ["biolink:Disease"], "description": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.", "id": "MONDO:0014278", "name": "Immunodeficiency 18", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD3-Epsilon deficiency", "IMD18", "immunodeficiency 18", "immunodeficiency 18, SCID variant", "immunodeficiency 18, Severe combined immunodeficiency variant", "immunodeficiency type 18"], "xref": ["DOID:0060017", "DOID:0111971", "GARD:0018295", "MEDGEN:816457", "OMIM:615615", "UMLS:C3810127"]}
{"category": ["biolink:Disease"], "description": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.", "id": "MONDO:0014280", "name": "Immunodeficiency 19", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CD3D severe combined immunodeficiency (disease)", "CD3delta deficiency", "immunodeficiency 19", "immunodeficiency type 19", "severe combined immunodeficiency (disease) caused by mutation in CD3D"], "xref": ["DOID:0060016", "DOID:0111972", "GARD:0018296", "MEDGEN:816477", "OMIM:615617", "UMLS:C3810147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014281", "name": "Cholangiocarcinoma, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["cholangiocarcinoma, susceptibility to"], "xref": ["GARD:0027858", "MEDGEN:816486", "OMIM:615619", "UMLS:C3810156"]}
{"category": ["biolink:Disease"], "description": "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.", "id": "MONDO:0014282", "name": "Hereditary spastic paraplegia 72", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["REEP2 pure hereditary spastic paraplegia", "SPG72", "autosomal spastic paraplegia type 72", "hereditary spastic paraplegia type 72", "pure hereditary spastic paraplegia caused by mutation in REEP2"], "xref": ["DOID:0110817", "GARD:0017660", "MEDGEN:1847422", "OMIM:615625", "Orphanet:401849", "UMLS:C5882669"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.", "id": "MONDO:0014283", "name": "Autosomal dominant nonsyndromic hearing loss 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110581", "GARD:0018137", "MEDGEN:816500", "OMIM:615629", "UMLS:C3810170"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.", "id": "MONDO:0014284", "name": "Short-rib thoracic dysplasia 10 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SRTD10", "short-rib thoracic dysplasia 10 with or without polydactyly"], "xref": ["DOID:0110091", "GARD:0015993", "MEDGEN:816505", "OMIM:615630", "UMLS:C3810175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014285", "name": "Congenital dyserythropoietic anemia type type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anemia, congenital dyserythropoietic, type IB", "congenital dyserythropoietic anemia type type 1B", "dyserythropoietic anemia, congenital, type IB"], "xref": ["DOID:0111397", "GARD:0015994", "MEDGEN:816515", "OMIM:615631", "UMLS:C3810185"]}
{"category": ["biolink:Disease"], "description": "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.", "id": "MONDO:0014286", "name": "Neuropathy, hereditary sensory, type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATL3 hereditary sensory and autonomic neuropathy type 1", "HSN1F", "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3", "neuropathy, hereditary sensory, type 1F"], "xref": ["DOID:0070154", "GARD:0015995", "MEDGEN:816524", "OMIM:615632", "UMLS:C3810194"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.", "id": "MONDO:0014287", "name": "Short-rib thoracic dysplasia 11 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRTD11", "short-rib thoracic dysplasia 11 with or without polydactyly"], "xref": ["DOID:0110095", "GARD:0015996", "MEDGEN:816530", "OMIM:615633", "UMLS:C3810200"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.", "id": "MONDO:0014288", "name": "Joubert syndrome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSPP1 Joubert syndrome", "JBTS21", "Joubert syndrome 21", "Joubert syndrome caused by mutation in CSPP1", "Joubert syndrome type 21"], "xref": ["DOID:0110990", "GARD:0015997", "MEDGEN:816542", "OMIM:615636", "UMLS:C3810212"]}
{"category": ["biolink:Disease"], "description": "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.", "id": "MONDO:0014289", "name": "Macrocephaly-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive type 41", "mental retardation, autosomal recessive type 41"], "xref": ["DOID:0081206", "GARD:0017630", "MEDGEN:816555", "OMIM:615637", "Orphanet:397612", "UMLS:C3810225"]}
{"category": ["biolink:Disease"], "description": "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.", "id": "MONDO:0014290", "name": "Neurodegeneration with brain iron accumulation 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COASY neurodegeneration with brain iron accumulation", "CoPAN", "NBIA6", "neurodegeneration with brain iron accumulation 6", "neurodegeneration with brain iron accumulation caused by mutation in COASY", "neurodegeneration with brain iron accumulation due to COASY mutation", "neurodegeneration with brain iron accumulation type 6"], "xref": ["DOID:0110740", "GARD:0012571", "MEDGEN:1387791", "OMIM:615643", "Orphanet:397725", "SCTID:732264002", "UMLS:C4517377"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.", "id": "MONDO:0014291", "name": "Autosomal dominant nonsyndromic hearing loss 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110580", "GARD:0018138", "MEDGEN:854731", "OMIM:615649", "UMLS:C3888029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014292", "name": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017565", "MEDGEN:1638681", "NCIT:C171603", "OMIM:615651", "Orphanet:363540", "SCTID:768663003", "UMLS:C4554120"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.", "id": "MONDO:0014293", "name": "Autosomal dominant nonsyndromic hearing loss 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110582", "GARD:0018139", "MEDGEN:854817", "OMIM:615654", "UMLS:C3888210"]}
{"category": ["biolink:Disease"], "description": "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).", "id": "MONDO:0014294", "name": "Chromosome 15q11.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["15q11.2 BP1-BP2 microdeletion syndrome", "15q11.2 microdeletion syndrome", "Del(15)(q11.2)", "chromosome 15q11.2 deletion syndrome", "monosomy 15q11.2"], "xref": ["DOID:0060393", "GARD:0010525", "MEDGEN:467404", "OMIM:615656", "Orphanet:261183", "UMLS:C3180937"]}
{"category": ["biolink:Disease"], "description": "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.", "id": "MONDO:0014295", "name": "Hereditary spastic paraplegia 57", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG57", "TFG hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 57", "hereditary spastic paraplegia caused by mutation in TFG", "hereditary spastic paraplegia type 57", "spastic paraplegia due to partial TFG deficiency"], "xref": ["DOID:0110809", "GARD:0017712", "MEDGEN:811490", "OMIM:615658", "Orphanet:431329", "SCTID:723826007", "UMLS:C3714897"]}
{"category": ["biolink:Disease"], "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.", "id": "MONDO:0014296", "name": "Warburg micro syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TBC1D20 Warburg micro syndrome", "WARBM4", "Warburg micro syndrome 4", "Warburg micro syndrome caused by mutation in TBC1D20", "Warburg micro syndrome type 4"], "xref": ["DOID:0110719", "GARD:0015998", "MEDGEN:816595", "OMIM:615663", "UMLS:C3810265"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.", "id": "MONDO:0014297", "name": "Joubert syndrome 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS22", "Joubert syndrome 22", "Joubert syndrome caused by mutation in PDE6D", "Joubert syndrome type 22", "PDE6D Joubert syndrome"], "xref": ["DOID:0110991", "GARD:0015999", "MEDGEN:816608", "OMIM:615665", "UMLS:C3810278"]}
{"category": ["biolink:Disease"], "description": "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.", "id": "MONDO:0014298", "name": "Chromosome 5q12 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chromosome 5q12 deletion syndrome"], "xref": ["DOID:0060421", "GARD:0017742", "MEDGEN:816612", "OMIM:615668", "Orphanet:439822", "UMLS:C3810282"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014299", "name": "Lztr1-related schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Schwannomatosis type 2", "schwannomatosis 2"], "xref": ["DOID:0070481", "GARD:0016000", "MEDGEN:816613", "NCIT:C186704", "OMIM:615670", "UMLS:C3810283"]}
{"category": ["biolink:Disease"], "description": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.", "id": "MONDO:0014300", "name": "Proximal myopathy with extrapyramidal signs", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111335", "GARD:0012978", "MEDGEN:816615", "OMIM:615673", "Orphanet:401768", "UMLS:C3810285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014301", "name": "Dowling-degos disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DDD3"], "xref": ["GARD:0016001", "MEDGEN:816616", "OMIM:615674", "UMLS:C3810286"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.", "id": "MONDO:0014302", "name": "Hereditary spastic paraplegia 62", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERLIN1 autosomal recessive pure spastic paraplegia", "SPG62", "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1", "autosomal recessive spastic paraplegia type 62", "hereditary spastic paraplegia type 62", "spastic paraplegia 62, autosomal recessive"], "xref": ["DOID:0110813", "GARD:0017657", "MEDGEN:924879", "OMIM:615681", "Orphanet:401785", "SCTID:765045003", "UMLS:C4284588"]}
{"category": ["biolink:Disease"], "description": "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.", "id": "MONDO:0014303", "name": "Hereditary spastic paraplegia 64", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ENTPD1 autosomal recessive complex spastic paraplegia", "SPG64", "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1", "autosomal recessive spastic paraplegia type 64", "hereditary spastic paraplegia type 64"], "xref": ["DOID:0110815", "GARD:0017659", "MEDGEN:816619", "OMIM:615683", "Orphanet:401810", "SCTID:726609005", "UMLS:C3810289"]}
{"category": ["biolink:Disease"], "description": "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.", "id": "MONDO:0014304", "name": "Hereditary spastic paraplegia 61", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARL6IP1 autosomal recessive complex spastic paraplegia", "SPG61", "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1", "autosomal recessive spastic paraplegia type 61", "hereditary spastic paraplegia 61", "hereditary spastic paraplegia type 61"], "xref": ["DOID:0110812", "GARD:0017656", "MEDGEN:816624", "OMIM:615685", "Orphanet:401780", "SCTID:726611001", "UMLS:C3810294"]}
{"category": ["biolink:Disease"], "description": "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.", "id": "MONDO:0014305", "name": "Hereditary spastic paraplegia 63", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMPD2 autosomal recessive complex spastic paraplegia", "SPG63", "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2", "hereditary spastic paraplegia type 63"], "xref": ["DOID:0110814", "GARD:0017658", "MEDGEN:816625", "OMIM:615686", "Orphanet:401805", "SCTID:726610000", "UMLS:C3810295"]}
{"category": ["biolink:Disease"], "description": "A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.", "id": "MONDO:0014306", "name": "Deficiency of adenosine deaminase 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADA2 deficiency", "DADA2", "adenosine deaminase 2 deficiency", "childhood-onset polyarteritis nodosa", "deficiency of adenosine deaminase 2", "polyarteritis nodosa, childhood-onset", "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome"], "xref": ["GARD:0012383", "MEDGEN:854497", "NANDO:1200995", "NANDO:2200441", "NANDO:2200450", "OMIM:615688", "Orphanet:404553", "UMLS:C3887654"]}
{"category": ["biolink:Disease"], "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.", "id": "MONDO:0014307", "name": "Dowling-degos disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Dowling-Degos disease 4", "Dowling-Degos disease caused by mutation in POGLUT1", "Dowling-Degos disease type 4", "POGLUT1 Dowling-Degos disease"], "xref": ["GARD:0016002", "MEDGEN:816643", "OMIM:615696", "UMLS:C3810313"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.", "id": "MONDO:0014308", "name": "Familial temporal lobe epilepsy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETL6", "familial temporal lobe epilepsy type 6"], "xref": ["DOID:0060749", "GARD:0018281", "MEDGEN:816650", "OMIM:615697", "UMLS:C3810320"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014309", "name": "Obesity due to cep19 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017631", "MEDGEN:816654", "OMIM:615703", "Orphanet:397615", "UMLS:C3810324"]}
{"category": ["biolink:Disease"], "description": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.", "id": "MONDO:0014310", "name": "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["POIKTMP syndrome"], "xref": ["GARD:0013218", "MEDGEN:816655", "OMIM:615704", "Orphanet:221043", "UMLS:C3810325", "icd11.foundation:1585528459"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.", "id": "MONDO:0014311", "name": "Autosomal recessive spinocerebellar ataxia 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome", "SCAR15", "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN", "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN", "autosomal recessive spinocerebellar ataxia type 15", "spinocerebellar ataxia, autosomal recessive type 15"], "xref": ["DOID:0080057", "GARD:0017678", "MEDGEN:816656", "OMIM:615705", "Orphanet:404499", "UMLS:C3810326"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014312", "name": "Auriculocondylar syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Auriculocondylar syndrome 3", "Auriculocondylar syndrome type 3"], "xref": ["GARD:0016003", "MEDGEN:816662", "OMIM:615706", "UMLS:C3810332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014313", "name": "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD16 deficiency", "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity", "immunodeficiency type 20"], "xref": ["DOID:0111941", "GARD:0017732", "MEDGEN:816672", "OMIM:615707", "Orphanet:437552", "UMLS:C3810342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014314", "name": "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017642", "MEDGEN:816673", "OMIM:615709", "Orphanet:397927", "UMLS:C3810343"]}
{"category": ["biolink:Disease"], "description": "Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.", "id": "MONDO:0014316", "name": "Alzheimer disease 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AD19", "Alzheimer disease 19", "Alzheimer disease caused by mutation in PLD3", "Alzheimer disease type 19", "Alzheimer's disease 19", "Alzheimer's disease type 19", "PLD3 Alzheimer disease"], "xref": ["DOID:0110051", "GARD:0024983", "MEDGEN:816679", "OMIM:615711", "UMLS:C3810349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014317", "name": "Pancytopenia-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Trilineage bone marrow failure-developmental delay syndrome", "bone marrow failure syndrome type 2", "pancytopenia-developmental delay syndrome"], "xref": ["GARD:0017655", "MEDGEN:816680", "OMIM:615715", "Orphanet:401764", "UMLS:C3810350"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.", "id": "MONDO:0014318", "name": "Hyperphosphatasia with intellectual disability syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PGAP3 hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 4", "hyperphosphatasia with intellectual disability syndrome type 4", "hyperphosphatasia with mental retardation syndrome 4", "hyperphosphatasia with mental retardation syndrome type 4", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3"], "xref": ["DOID:0070436", "GARD:0018352", "MEDGEN:816684", "OMIM:615716", "UMLS:C3810354"]}
{"category": ["biolink:Disease"], "description": "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.", "id": "MONDO:0014319", "name": "Renal hypodysplasia/aplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FGF20 renal agenesis (disease)", "renal agenesis (disease) caused by mutation in FGF20", "renal hypodysplasia/aplasia 2", "renal hypodysplasia/aplasia type 2"], "xref": ["GARD:0024984", "MEDGEN:816689", "OMIM:615721", "UMLS:C3810359"]}
{"category": ["biolink:Disease"], "description": "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.", "id": "MONDO:0014320", "name": "Bosch-boonstra-schaaf optic atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBSOAS", "Bosch-Boonstra-Schaaf optic atrophy syndrome", "optic atrophy-intellectual disability syndrome"], "xref": ["DOID:0112226", "GARD:0012903", "MEDGEN:816693", "OMIM:615722", "Orphanet:401777", "UMLS:C3810363"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.", "id": "MONDO:0014321", "name": "Premature ovarian failure 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["STAG3 primary ovarian failure", "premature ovarian failure 8", "premature ovarian failure type 8", "primary ovarian failure caused by mutation in STAG3"], "xref": ["DOID:0080865", "GARD:0024985", "MEDGEN:816697", "OMIM:615723", "UMLS:C3810367"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.", "id": "MONDO:0014322", "name": "Premature ovarian failure 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HFM1 primary ovarian failure", "premature ovarian failure 9", "premature ovarian failure type 9", "primary ovarian failure caused by mutation in HFM1"], "xref": ["DOID:0080866", "GARD:0024986", "MEDGEN:816706", "OMIM:615724", "UMLS:C3810376"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.", "id": "MONDO:0014323", "name": "Retinitis pigmentosa 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP68", "SLC7A14 retinitis pigmentosa", "retinitis pigmentosa 68", "retinitis pigmentosa caused by mutation in SLC7A14", "retinitis pigmentosa type 68"], "xref": ["DOID:0110374", "GARD:0016004", "MEDGEN:816710", "OMIM:615725", "UMLS:C3810380"]}
{"category": ["biolink:Disease"], "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.", "id": "MONDO:0014324", "name": "Pachyonychia congenita 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT6A pachyonychia congenita", "pachyonychia congenita 3", "pachyonychia congenita caused by mutation in KRT6A", "pachyonychia congenita type 3"], "xref": ["GARD:0016005", "MEDGEN:811523", "OMIM:615726", "UMLS:C3714948"]}
{"category": ["biolink:Disease"], "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.", "id": "MONDO:0014325", "name": "Pachyonychia congenita 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KRT6B pachyonychia congenita", "pachyonychia congenita 4", "pachyonychia congenita caused by mutation in KRT6B", "pachyonychia congenita type 4"], "xref": ["GARD:0016006", "MEDGEN:811524", "OMIM:615728", "UMLS:C3714949"]}
{"category": ["biolink:Disease"], "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.", "id": "MONDO:0014326", "name": "Nemaline myopathy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["KLHL41 nemaline myopathy", "NEM9", "nemaline myopathy 9", "nemaline myopathy caused by mutation in KLHL41", "nemaline myopathy type 9"], "xref": ["DOID:0110929", "GARD:0016007", "MEDGEN:816714", "OMIM:615731", "UMLS:C3810384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014327", "name": "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering", "palmoplantar keratoderma, nonepidermolytic, focal or diffuse"], "xref": ["DOID:0111710", "GARD:0017669", "MEDGEN:816724", "OMIM:615735", "Orphanet:402003", "UMLS:C3810394"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.", "id": "MONDO:0014328", "name": "Developmental and epileptic encephalopathy, 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE19", "EIEE19", "Early Infantile epileptic encephalopathy 19", "GABRA1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 19", "early infantile epileptic encephalopathy caused by mutation in GABRA1", "epileptic encephalopathy, early infantile, 19", "epileptic encephalopathy, early infantile, type 19"], "xref": ["DOID:0080431", "GARD:0016008", "MEDGEN:816730", "NCIT:C142802", "OMIM:615744", "UMLS:C3810400"]}
{"category": ["biolink:Disease"], "description": "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.", "id": "MONDO:0014329", "name": "Atrial standstill 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NPPA atrial standstill", "atrial standstill 2", "atrial standstill caused by mutation in NPPA", "atrial standstill type 2"], "xref": ["DOID:0080663", "GARD:0018612", "MEDGEN:816731", "OMIM:615745", "UMLS:C3810401"]}
{"category": ["biolink:Disease"], "description": "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.", "id": "MONDO:0014331", "name": "Moyamoya disease with early-onset achalasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["moyamoya 6 with achalasia"], "xref": ["GARD:0017664", "MEDGEN:816733", "OMIM:615750", "Orphanet:401945", "SCTID:718551002", "UMLS:C3810403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014332", "name": "Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CA-VA deficiency", "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "xref": ["GARD:0013201", "MEDGEN:1644778", "OMIM:615751", "Orphanet:401948", "SCTID:764456001", "UMLS:C4706871"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014333", "name": "Polymicrogyria, bilateral perisylvian, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polymicrogyria, bilateral perisylvian", "polymicrogyria, bilateral perisylvian, autosomal recessive"], "xref": ["GARD:0016009", "MEDGEN:816735", "OMIM:615752", "UMLS:C3810405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014334", "name": "Severe combined immunodeficiency due to lck deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID due to LCK deficiency", "SCID due to lymphocyte-specific protein tyrosine kinase deficiency", "immunodeficiency type 22", "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"], "xref": ["DOID:0111937", "GARD:0017288", "MEDGEN:862670", "OMIM:615758", "Orphanet:280142", "UMLS:C4014233", "icd11.foundation:999642330"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014335", "name": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy"], "xref": ["GARD:0017672", "MEDGEN:862676", "OMIM:615760", "Orphanet:404437", "UMLS:C4014239"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014336", "name": "Intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["MRD23", "autosomal dominant intellectual disability 23", "intellectual developmental disorder, autosomal dominant 23", "intellectual disability, autosomal dominant type 23", "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "mental retardation, autosomal dominant type 23"], "xref": ["DOID:0070053", "GARD:0017673", "MEDGEN:816736", "OMIM:615761", "Orphanet:404440", "UMLS:C3810406"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.", "id": "MONDO:0014337", "name": "Complex cortical dysplasia with other brain malformations 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDCBM5", "TUBB2A complex cortical dysplasia with other brain malformations", "TUBB2A-related tubulinopathy", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A", "complex cortical dysplasia with other brain malformations type 5", "cortical dysplasia, Complex, with Other brain malformations type 5"], "xref": ["DOID:0090135", "GARD:0027859", "MEDGEN:816737", "OMIM:615763", "UMLS:C3810407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014338", "name": "Il21-related infantile inflammatory bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IL21-related infantile IBD", "immunodeficiency, common variable, type 11"], "xref": ["DOID:0081153", "GARD:0017852", "MEDGEN:1799211", "NCIT:C176801", "OMIM:615767", "Orphanet:477661", "UMLS:C5567788"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.", "id": "MONDO:0014339", "name": "Autosomal recessive spinocerebellar ataxia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR16", "STUB1 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in STUB1", "autosomal recessive spinocerebellar ataxia 16", "autosomal recessive spinocerebellar ataxia type 16", "spinocerebellar ataxia autosomal recessive type 16", "spinocerebellar ataxia, autosomal recessive type 16"], "xref": ["DOID:0080029", "GARD:0017689", "MEDGEN:1674542", "OMIM:615768", "Orphanet:412057", "UMLS:C5190574"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.", "id": "MONDO:0014340", "name": "Atrial fibrillation, familial, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NUP155 familial atrial fibrillation", "atrial fibrillation 15", "atrial fibrillation, familial, 15", "atrial fibrillation, familial, type 15", "familial atrial fibrillation caused by mutation in NUP155"], "xref": ["GARD:0016010", "MEDGEN:862706", "OMIM:615770", "UMLS:C4014269"]}
{"category": ["biolink:Disease"], "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.", "id": "MONDO:0014341", "name": "Complex cortical dysplasia with other brain malformations 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TUBB complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB", "complex cortical dysplasia with other brain malformations type 6", "cortical dysplasia, Complex, with Other brain malformations type 6"], "xref": ["DOID:0090136", "MEDGEN:862720", "OMIM:615771", "UMLS:C4014283"]}
{"category": ["biolink:Disease"], "description": "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.", "id": "MONDO:0014342", "name": "Female infertility due to zona pellucida defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017675", "MEDGEN:862728", "OMIM:615774", "Orphanet:404466", "UMLS:C4014291"]}
{"category": ["biolink:Disease"], "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.", "id": "MONDO:0014343", "name": "Desbuquois dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baratela-Scott syndrome", "Desbuquois dysplasia 2", "Desbuquois dysplasia caused by mutation in XYLT1", "Desbuquois dysplasia type 2", "XYLT1 Desbuquois dysplasia"], "xref": ["GARD:0016466", "MEDGEN:862731", "OMIM:615777", "UMLS:C4014294"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.", "id": "MONDO:0014344", "name": "Congenital heart defects, multiple types, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NR2F2 congenital heart defects, multiple types", "congenital heart defects, multiple types caused by mutation in NR2F2", "congenital heart defects, multiple types, 4"], "xref": ["GARD:0024987", "MEDGEN:862747", "OMIM:615779", "UMLS:C4014310"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.", "id": "MONDO:0014345", "name": "Retinitis pigmentosa 69", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KIZ retinitis pigmentosa", "RP69", "retinitis pigmentosa 69", "retinitis pigmentosa caused by mutation in KIZ", "retinitis pigmentosa type 69"], "xref": ["DOID:0110410", "GARD:0016011", "MEDGEN:862749", "OMIM:615780", "UMLS:C4014312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014346", "name": "White sponge nevus 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["White sponge Nevus type 2", "white sponge nevus 2"], "xref": ["DOID:0081288", "GARD:0016012", "MEDGEN:862758", "OMIM:615785", "UMLS:C4014321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014347", "name": "Rothmund-thomson syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Rothmund-Thomson syndrome, type 3", "short stature with microcephaly and distinctive facies"], "xref": ["GARD:0027860", "MEDGEN:862776", "OMIM:615789", "UMLS:C4014339"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.", "id": "MONDO:0014348", "name": "Intellectual disability, autosomal recessive 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PGAP1 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1", "intellectual disability, autosomal recessive 42", "intellectual disability, autosomal recessive type 42", "mental retardation, autosomal recessive type 42", "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities"], "xref": ["GARD:0022564", "MEDGEN:862780", "OMIM:615802", "UMLS:C4014343"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.", "id": "MONDO:0014349", "name": "Pontocerebellar hypoplasia type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLP1 non-syndromic pontocerebellar hypoplasia", "CLP1-related pontocerebellar hypoplasia", "PCH10", "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1"], "xref": ["DOID:0060279", "GARD:0017680", "MEDGEN:1676575", "OMIM:615803", "Orphanet:411493", "UMLS:C5190575"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.", "id": "MONDO:0014350", "name": "Seckel syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DNA2 Seckel syndrome", "SCKL8", "Seckel syndrome 8", "Seckel syndrome caused by mutation in DNA2", "Seckel syndrome type 8"], "xref": ["DOID:0070009", "GARD:0016013", "MEDGEN:856014", "OMIM:615807", "UMLS:C3891452"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.", "id": "MONDO:0014351", "name": "Pontocerebellar hypoplasia type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMPD2 non-syndromic pontocerebellar hypoplasia", "PCH9", "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2"], "xref": ["DOID:0060278", "GARD:0017590", "MEDGEN:862791", "OMIM:615809", "Orphanet:369920", "UMLS:C4014354"]}
{"category": ["biolink:Disease"], "description": "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.", "id": "MONDO:0014352", "name": "Abdominal obesity-metabolic syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DYRK1B metabolic syndrome", "abdominal obesity-metabolic syndrome 3", "abdominal obesity-metabolic syndrome type 3", "metabolic syndrome caused by mutation in DYRK1B"], "xref": ["DOID:0060612", "GARD:0024989", "MEDGEN:862798", "OMIM:615812", "UMLS:C4014361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014353", "name": "Immunodeficiency 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to PGM3 deficiency", "IMD23", "PGM3-CDG", "PGM3-EXACT congenital disorder of glycosylation", "combined immunodeficiency due to PGM3 deficiency", "combined inflammatory and immunologic defect", "immunodeficiency 23", "immunodeficiency type 23", "immunodeficiency with hyper IgE and cognitive impairment", "immunodeficiency-vasculitis-myoclonus syndrome", "phosphoglucomutase 3 deficiency", "phosphoglucomutase deficiency type 3"], "xref": ["DOID:0111953", "GARD:0004331", "MEDGEN:862808", "MESH:C565684", "OMIM:216920", "OMIM:615816", "Orphanet:443811", "UMLS:C4014371"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.", "id": "MONDO:0014354", "name": "Intellectual disability, autosomal recessive 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["WASHC4 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4", "intellectual developmental disorder, autosomal recessive 43", "intellectual disability, autosomal recessive 43", "intellectual disability, autosomal recessive type 43", "mental retardation, autosomal recessive type 43"], "xref": ["DOID:0081207", "GARD:0022565", "MEDGEN:862823", "OMIM:615817", "UMLS:C4014386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014355", "name": "Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EKC syndrome", "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis", "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis", "erythrokeratodermia-cardiomyopathy syndrome"], "xref": ["GARD:0016014", "MEDGEN:862830", "OMIM:615821", "Orphanet:476096", "UMLS:C4014393"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.", "id": "MONDO:0014356", "name": "Mitochondrial complex iii deficiency nuclear type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["UQCC2 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in UQCC2"], "xref": ["DOID:0080116", "GARD:0016015", "MEDGEN:862845", "OMIM:615824", "UMLS:C4014408"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.", "id": "MONDO:0014357", "name": "Intellectual disability, autosomal dominant 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEAF1 autosomal dominant non-syndromic intellectual disability", "MRD24", "autosomal dominant intellectual disability 24", "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1", "intellectual disability, autosomal dominant 24", "intellectual disability, autosomal dominant type 24", "mental retardation, autosomal dominant type 24"], "xref": ["DOID:0070054", "GARD:0016467", "MEDGEN:862851", "OMIM:615828", "UMLS:C4014414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014358", "name": "Ahdc1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "Xia-Gibbs syndrome", "autosomal dominant intellectual disability 25"], "xref": ["DOID:0070055", "GARD:0013409", "MEDGEN:862856", "OMIM:615829", "Orphanet:412069", "UMLS:C4014419"]}
{"category": ["biolink:Disease"], "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.", "id": "MONDO:0014359", "name": "Pigmented nodular adrenocortical disease, primary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cushing syndrome, ACTH-independent adrenal, somatic", "PRKACA primary pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary, 4", "pigmented nodular adrenocortical disease, primary, type 4", "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA"], "xref": ["DOID:0070549", "GARD:0016016", "MEDGEN:862862", "OMIM:615830", "UMLS:C4014425"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.", "id": "MONDO:0014360", "name": "Developmental and epileptic encephalopathy, 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE21", "EIEE21", "NECAP1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 21", "early infantile epileptic encephalopathy caused by mutation in NECAP1", "epileptic encephalopathy, early infantile, 21", "epileptic encephalopathy, early infantile, type 21"], "xref": ["DOID:0080443", "GARD:0016017", "MEDGEN:862867", "OMIM:615833", "UMLS:C4014430"]}
{"category": ["biolink:Disease"], "description": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.", "id": "MONDO:0014361", "name": "Autism spectrum disorder due to auts2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASD due to AUTS2 deficiency", "AUTS2 syndrome", "MRD26", "autism spectrum disorder due to AUTS2 deficiency", "intellectual developmental disorder, autosomal dominant 26", "intellectual disability type 26", "mental retardation, autosomal dominant 26", "mental retardation, autosomal dominant type 26"], "xref": ["DOID:0070056", "GARD:0017520", "MEDGEN:862872", "OMIM:615834", "Orphanet:352490", "UMLS:C4014435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014362", "name": "Chromosome 16 inversion, 0.45-mb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 16 inversion, 0.45-Mb"], "xref": ["GARD:0024990", "MEDGEN:862873", "OMIM:615835", "UMLS:C4014436"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.", "id": "MONDO:0014363", "name": "Autosomal recessive nonsyndromic hearing loss 101", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110462", "GARD:0022651", "MEDGEN:856148", "OMIM:615837", "UMLS:C3892049"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.", "id": "MONDO:0014364", "name": "Mitochondrial complex iii deficiency nuclear type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LYRM7 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in LYRM7", "mitochondrial complex III deficiency nuclear type 8"], "xref": ["DOID:0080117", "GARD:0016018", "MEDGEN:862877", "OMIM:615838", "UMLS:C4014440"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.", "id": "MONDO:0014365", "name": "Spermatogenic failure 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TAF4B azoospermia", "azoospermia caused by mutation in TAF4B", "spermatogenic failure 13", "spermatogenic failure type 13"], "xref": ["DOID:0070182", "GARD:0016019", "MEDGEN:862886", "OMIM:615841", "UMLS:C4014449"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.", "id": "MONDO:0014366", "name": "Spermatogenic failure 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ZMYND15 azoospermia", "azoospermia caused by mutation in ZMYND15", "spermatogenic failure 14", "spermatogenic failure type 14"], "xref": ["DOID:0070179", "GARD:0016020", "MEDGEN:862891", "OMIM:615842", "UMLS:C4014454"]}
{"category": ["biolink:Disease"], "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.", "id": "MONDO:0014367", "name": "Aicardi-goutieres syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aicardi-Goutieres syndrome 7", "Aicardi-Goutieres syndrome caused by mutation in IFIH1", "Aicardi-Goutieres syndrome type 7", "IFIH1 Aicardi-Goutieres syndrome"], "xref": ["GARD:0016021", "MEDGEN:854829", "NCIT:C168585", "OMIM:615846", "UMLS:C3888244"]}
{"category": ["biolink:Disease"], "description": "Any hereditary cancer predisposition due to variation(s) in the POT1 gene, which confers a predisposition to development of various types of benign and malignant neoplasms.", "id": "MONDO:0014368", "name": "Tumor predisposition syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CMM10", "GLM9", "POT1 tumor predisposition", "POT1-TPD", "POT1-related tumor predisposition syndrome", "glioma susceptibility 9", "glioma susceptibility type 9", "malignant glioma caused by mutation in POT1", "melanoma, cutaneous malignant, susceptibility to, 10", "melanoma, cutaneous malignant, susceptibility to, type 10"], "xref": ["GARD:0018582", "MEDGEN:862913", "OMIM:615848", "OMIM:616568", "UMLS:C4014476"]}
{"category": ["biolink:Disease"], "description": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.", "id": "MONDO:0014369", "name": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080328", "GARD:0013349", "MEDGEN:862916", "OMIM:615849", "Orphanet:420584", "UMLS:C4014479"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.", "id": "MONDO:0014370", "name": "Pontocerebellar hypoplasia type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VPS53 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53", "pontocerebellar hypoplasia type 2E"], "xref": ["DOID:0060271", "GARD:0018348", "MEDGEN:862925", "OMIM:615851", "UMLS:C4014488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014371", "name": "Developmental and epileptic encephalopathy, 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EIEE23", "developmental and epileptic encephalopathy 23", "developmental and epileptic encephalopathy, 23", "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epileptic encephalopathy, early infantile, 23", "epileptic encephalopathy, early infantile, type 23"], "xref": ["DOID:0080415", "GARD:0017687", "MEDGEN:862929", "OMIM:615859", "Orphanet:411986", "UMLS:C4014492"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.", "id": "MONDO:0014372", "name": "Cone-rod dystrophy 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD19", "TTLL5 cone-rod dystrophy", "cone-rod dystrophy 19", "cone-rod dystrophy caused by mutation in TTLL5", "cone-rod dystrophy type 19"], "xref": ["DOID:0111025", "GARD:0016022", "MEDGEN:862938", "OMIM:615860", "UMLS:C4014501"]}
{"category": ["biolink:Disease"], "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.", "id": "MONDO:0014373", "name": "Nephrotic syndrome, type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EMP2 nephrotic syndrome", "nephrotic syndrome caused by mutation in EMP2", "nephrotic syndrome, type 10"], "xref": ["DOID:0080386", "GARD:0024991", "MEDGEN:862944", "OMIM:615861", "UMLS:C4014507"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.", "id": "MONDO:0014374", "name": "Nephronophthisis 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP83 nephronophthisis (disease)", "NPHP18", "nephronophthisis (disease) caused by mutation in CEP83", "nephronophthisis 18", "nephronophthisis type 18"], "xref": ["DOID:0111125", "GARD:0024992", "MEDGEN:855697", "OMIM:615862", "UMLS:C3890591"]}
{"category": ["biolink:Disease"], "description": "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.", "id": "MONDO:0014375", "name": "Congenital diarrhea 7 with exudative enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DGAT1 congenital diarrhea", "DGAT1 congenital diarrhoea", "congenital chronic diarrhea with exudative enteropathy", "congenital chronic diarrhea with protein-losing enteropathy", "congenital diarrhea caused by mutation in DGAT1", "congenital diarrhoea caused by mutation in DGAT1", "diarrhea 7, protein-losing enteropathy type", "diarrhea type 7", "diarrhoea 7, protein-losing enteropathy type", "diarrhoea type 7"], "xref": ["DOID:0060778", "GARD:0017500", "MEDGEN:862953", "OMIM:615863", "Orphanet:329242", "UMLS:C4014516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014376", "name": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSS9", "Coffin-Siris syndrome 9", "MRD27", "autosomal dominant intellectual disability 27", "intellectual disability, autosomal dominant 27", "intellectual disability, autosomal dominant type 27", "mental retardation, autosomal dominant type 27"], "xref": ["DOID:0070057", "GARD:0016023", "MEDGEN:862965", "OMIM:615866", "UMLS:C4014528"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.", "id": "MONDO:0014377", "name": "Developmental and epileptic encephalopathy, 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE24", "EIEE24", "HCN1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 24", "early infantile epileptic encephalopathy caused by mutation in HCN1", "epileptic encephalopathy, early infantile, 24", "epileptic encephalopathy, early infantile, type 24"], "xref": ["DOID:0080429", "GARD:0016024", "MEDGEN:862968", "OMIM:615871", "UMLS:C4014531"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.", "id": "MONDO:0014378", "name": "Primary ciliary dyskinesia 29", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCNO primary ciliary dyskinesia", "CILD29", "ciliary dyskinesia, primary, type 29", "primary ciliary dyskinesia caused by mutation in CCNO", "primary ciliary dyskinesia type 29"], "xref": ["DOID:0110600", "GARD:0016025", "MEDGEN:862971", "NCIT:C172393", "OMIM:615872", "UMLS:C4014534"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.", "id": "MONDO:0014379", "name": "Adnp-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADNP Syndrome", "ADNP syndrome", "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "HVDAS", "Helsmoortel-Van der Aa syndrome", "autosomal dominant intellectual disability 28"], "xref": ["DOID:0070058", "GARD:0012931", "MEDGEN:862975", "NORD:1965", "OMIM:615873", "Orphanet:404448", "SCTID:766824003", "UMLS:C4014538"]}
{"category": ["biolink:Disease"], "description": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.", "id": "MONDO:0014380", "name": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["microphthalmia, syndromic type 14", "microphthalmia-coloboma-rhizomelic skeletal dysplasia"], "xref": ["DOID:0111802", "GARD:0017707", "MEDGEN:862977", "OMIM:615877", "Orphanet:424099", "UMLS:C4014540"]}
{"category": ["biolink:Disease"], "description": "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.", "id": "MONDO:0014381", "name": "Cholestasis, progressive familial intrahepatic, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["PFIC4", "TJP2 deficit", "TJP2 progressive familial intrahepatic cholestasis", "cholestasis, progressive familial intrahepatic, 4", "cholestasis, progressive familial intrahepatic, type 4", "progressive familial intrahepatic cholestasis caused by mutation in TJP2", "progressive familial intrahepatic cholestasis type 4"], "xref": ["DOID:0070224", "GARD:0009803", "MEDGEN:418976", "NANDO:1201046", "OMIM:615878", "Orphanet:480483", "UMLS:C2931067"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.", "id": "MONDO:0014382", "name": "Tatton-brown-rahman overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNMT3A-related overgrowth syndrome", "Tatton Brown Rahman Syndrome", "Tatton-Brown-Rahman overgrowth syndrome", "tall stature-intellectual disability-facial dysmorphism syndrome"], "xref": ["DOID:0112339", "GARD:0017674", "MEDGEN:862982", "OMIM:615879", "Orphanet:404443", "SCTID:768843007", "UMLS:C4014545"]}
{"category": ["biolink:Disease"], "description": "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.", "id": "MONDO:0014383", "name": "Myopathy, tubular aggregate, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ORAI1 tubular aggregate myopathy", "myopathy, tubular aggregate, 2", "myopathy, tubular aggregate, type 2", "tubular aggregate myopathy caused by mutation in ORAI1"], "xref": ["DOID:0080686", "GARD:0016026", "MEDGEN:862994", "OMIM:615883", "UMLS:C4014557"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.", "id": "MONDO:0014384", "name": "Hypotrichosis 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT12", "RPL21 hypotrichosis", "hypotrichosis 12", "hypotrichosis caused by mutation in RPL21", "hypotrichosis type 12", "hypt12"], "xref": ["DOID:0110709", "GARD:0016027", "MEDGEN:863000", "OMIM:615885", "UMLS:C4014563"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.", "id": "MONDO:0014385", "name": "Amelogenesis imperfecta hypomaturation type 2a5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI2A5", "SLC24A4 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in SLC24A4", "amelogenesis imperfecta, type IIA5"], "xref": ["DOID:0110063", "GARD:0016028", "MEDGEN:863015", "OMIM:615887", "UMLS:C4014578"]}
{"category": ["biolink:Disease"], "description": "A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.", "id": "MONDO:0014386", "name": "Platelet-type bleeding disorder 18", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT18", "RASGRP2 inherited bleeding disorder, platelet-type", "RASGRP2-related platelet disorder", "bleeding disorder due to CalDAG-GEFI deficiency", "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency", "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2", "platelet-type bleeding disorder 18"], "xref": ["DOID:0111051", "GARD:0017695", "MEDGEN:863021", "OMIM:615888", "Orphanet:420566", "UMLS:C4014584"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014387", "name": "Leukoencephalopathy, progressive, with ovarian failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leukoencephalopathy, progressive, with ovarian failure"], "xref": ["DOID:0070396", "GARD:0018252", "MEDGEN:863025", "NANDO:1200952", "OMIM:615889", "UMLS:C4014588"]}
{"category": ["biolink:Disease"], "description": "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.", "id": "MONDO:0014388", "name": "Familial median cleft of the upper and lower lips", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080407", "GARD:0017663", "MEDGEN:863033", "OMIM:615892", "Orphanet:401942", "UMLS:C4014596"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.", "id": "MONDO:0014389", "name": "Polyglucosan body myopathy 1 with or without immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PGBM1", "polyglucosan body myopathy 1 with or without immunodeficiency", "polyglucosan body myopathy type 1", "polyglucosan body myopathy, early-onset, with or without immunodeficiency"], "xref": ["GARD:0017643", "MEDGEN:863042", "NANDO:2200766", "OMIM:615895", "Orphanet:397937", "UMLS:C4014605"]}
{"category": ["biolink:Disease"], "description": "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.", "id": "MONDO:0014390", "name": "Hypotrichosis 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPT13", "KRT71 hypotrichosis", "hypotrichosis 13", "hypotrichosis caused by mutation in KRT71", "hypotrichosis type 13", "hypotrichosis with woolly hair", "hypotrichosis with wooly hair", "hypt13"], "xref": ["DOID:0110710", "GARD:0016029", "MEDGEN:863053", "OMIM:615896", "UMLS:C4014616"]}
{"category": ["biolink:Disease"], "description": "Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.", "id": "MONDO:0014391", "name": "Combined immunodeficiency due to ctps1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTPS1-related combined immunodeficiency", "SCID due to CTPS1 deficiency", "immunodeficiency type 24"], "xref": ["DOID:0111938", "GARD:0017696", "MEDGEN:863054", "OMIM:615897", "Orphanet:420573", "SCTID:763623001", "UMLS:C4014617"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.", "id": "MONDO:0014392", "name": "Developmental and epileptic encephalopathy, 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE25", "EIEE25", "SLC13A5 Citrate Transporter Disorder", "SLC13A5 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy, 25", "early infantile epileptic encephalopathy 25", "early infantile epileptic encephalopathy caused by mutation in SLC13A5", "epileptic encephalopathy, early infantile, 25", "epileptic encephalopathy, early infantile, type 25"], "xref": ["DOID:0080453", "GARD:0012901", "MEDGEN:863058", "NORD:1914", "OMIM:615905", "UMLS:C4014621"]}
{"category": ["biolink:Disease"], "description": "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.", "id": "MONDO:0014393", "name": "Lymphatic malformation 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VEGFC hereditary lymphedema", "hereditary lymphedema caused by mutation in VEGFC", "lymphedema, hereditary, 1D", "lymphedema, hereditary, type 1D"], "xref": ["DOID:0070209", "GARD:0016468", "MEDGEN:1651756", "OMIM:615907", "UMLS:C4747769"]}
{"category": ["biolink:Disease"], "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.", "id": "MONDO:0014394", "name": "Diamond-blackfan anemia 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan Anaemia type 13", "Diamond-Blackfan Anemia type 13", "Diamond-Blackfan anaemia caused by mutation in RPS29", "Diamond-Blackfan anemia 13", "Diamond-Blackfan anemia caused by mutation in RPS29", "RPS29 Diamond-Blackfan anaemia", "RPS29 Diamond-Blackfan anemia"], "xref": ["DOID:0111889", "GARD:0016030", "MEDGEN:863078", "OMIM:615909", "UMLS:C4014641"]}
{"category": ["biolink:Disease"], "description": "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.", "id": "MONDO:0014395", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTDALS2", "frontotemporal dementia and/or amyotrophic lateral sclerosis 2", "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2"], "xref": ["DOID:0060214", "GARD:0018397", "MEDGEN:863085", "OMIM:615911", "UMLS:C4014648"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.", "id": "MONDO:0014396", "name": "Dilated cardiomyopathy 1nn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1NN", "RAF1 familial isolated dilated cardiomyopathy", "cardiomyopathy, dilated, type 1Nn", "dilated cardiomyopathy type 1NN", "familial isolated dilated cardiomyopathy caused by mutation in RAF1"], "xref": ["DOID:0110432", "GARD:0016031", "MEDGEN:863093", "OMIM:615916", "UMLS:C4014656"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.", "id": "MONDO:0014397", "name": "Combined oxidative phosphorylation defect type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COXPD20", "VARS2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in VARS2", "combined oxidative phosphorylation deficiency type 20"], "xref": ["DOID:0111478", "GARD:0017699", "MEDGEN:863097", "OMIM:615917", "Orphanet:420728", "UMLS:C4014660"]}
{"category": ["biolink:Disease"], "description": "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.", "id": "MONDO:0014398", "name": "Combined oxidative phosphorylation defect type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD21", "TARS2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in TARS2", "combined oxidative phosphorylation deficiency type 21"], "xref": ["DOID:0111465", "GARD:0017700", "MEDGEN:1638633", "OMIM:615918", "Orphanet:420733", "SCTID:763211004", "UMLS:C4706316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014399", "name": "Ataxia-telangiectasia-like disorder 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ataxia-telangiectasia-like disorder 2", "ataxia-telangiectasia-like disorder type 2"], "xref": ["DOID:0081385", "GARD:0017736", "MEDGEN:863113", "OMIM:615919", "Orphanet:438134", "UMLS:C4014676"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.", "id": "MONDO:0014400", "name": "Retinitis pigmentosa 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPF4 retinitis pigmentosa", "RP70", "retinitis pigmentosa 70", "retinitis pigmentosa caused by mutation in PRPF4", "retinitis pigmentosa type 70"], "xref": ["DOID:0110392", "GARD:0016032", "MEDGEN:863118", "OMIM:615922", "UMLS:C4014681"]}
{"category": ["biolink:Disease"], "description": "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.", "id": "MONDO:0014401", "name": "Tall stature-scoliosis-macrodactyly of the great toes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tall stature-scoliosis-macrodactyly of the halluces syndrome"], "xref": ["DOID:0070316", "GARD:0017495", "MEDGEN:863127", "OMIM:615923", "Orphanet:329191", "UMLS:C4014690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014402", "name": "Severe neurodegenerative syndrome with lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["severe neurodegenerative syndrome due to BSCL2 deficiency"], "xref": ["GARD:0017552", "MEDGEN:863137", "OMIM:615924", "Orphanet:363400", "UMLS:C4014700"]}
{"category": ["biolink:Disease"], "description": "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.", "id": "MONDO:0014403", "name": "Short stature due to ghsr deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ghrelin receptor deficiency", "short stature due to growth hormone secretagogue receptor deficiency"], "xref": ["GARD:0017436", "MEDGEN:1857733", "OMIM:615925", "Orphanet:314811", "SCTID:766817004", "UMLS:C5887324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014404", "name": "Webb-dattani syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Webb-Dattani syndrome", "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome"], "xref": ["MEDGEN:863145", "OMIM:615926", "Orphanet:370006", "UMLS:C4014708"]}
{"category": ["biolink:Disease"], "description": "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.", "id": "MONDO:0014405", "name": "Sting-associated vasculopathy with onset in infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SAVI"], "xref": ["DOID:0111457", "GARD:0012357", "ICD9:279.8", "MEDGEN:863159", "OMIM:615934", "Orphanet:425120", "SCTID:711164003", "UMLS:C4014722"]}
{"category": ["biolink:Disease"], "description": "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.", "id": "MONDO:0014406", "name": "Pancreatic agenesis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PTF1A pancreatic agenesis", "pancreatic agenesis 2", "pancreatic agenesis caused by mutation in PTF1A", "pancreatic agenesis type 2"], "xref": ["DOID:0060988", "GARD:0016033", "MEDGEN:863174", "OMIM:615935", "UMLS:C4014737"]}
{"category": ["biolink:Disease"], "description": "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.", "id": "MONDO:0014407", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2", "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3"], "xref": ["GARD:0018078", "MEDGEN:863175", "OMIM:615937", "UMLS:C4014738"]}
{"category": ["biolink:Disease"], "description": "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.", "id": "MONDO:0014408", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3", "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2"], "xref": ["GARD:0018079", "MEDGEN:863179", "OMIM:615938", "UMLS:C4014742"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.", "id": "MONDO:0014409", "name": "Intellectual disability, autosomal recessive 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["METTL23 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23", "intellectual disability, autosomal recessive 44", "intellectual disability, autosomal recessive type 44", "mental retardation, autosomal recessive type 44"], "xref": ["DOID:0081208", "GARD:0022566", "MEDGEN:863182", "OMIM:615942", "UMLS:C4014745"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.", "id": "MONDO:0014410", "name": "Spinocerebellar ataxia type 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA37", "spinocerebellar ataxia with altered vertical eye movements"], "xref": ["DOID:0050984", "GARD:0012368", "MEDGEN:855217", "OMIM:615945", "Orphanet:363710", "SCTID:719301002", "UMLS:C3889636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014411", "name": "Myopia 24, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myopia 24, autosomal dominant"], "xref": ["MEDGEN:863199", "OMIM:615946", "UMLS:C4014762"]}
{"category": ["biolink:Disease"], "description": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.", "id": "MONDO:0014412", "name": "Hyperlipoproteinemia, type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["GPIHBP1 familial hyperlipidemia", "familial hyperlipidemia caused by mutation in GPIHBP1", "hyperlipoproteinemia, type 1D"], "xref": ["DOID:0111420", "GARD:0017973", "MEDGEN:863204", "OMIM:615947", "Orphanet:535458", "UMLS:C4014767"]}
{"category": ["biolink:Disease"], "description": "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.", "id": "MONDO:0014413", "name": "Orofaciodigital syndrome type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C2CD3 orofaciodigital syndrome", "OFD14", "microcephaly-cerebral malformation-orofaciodigital syndrome", "oral-facial-digital syndrome type 14", "orofaciodigital syndrome caused by mutation in C2CD3", "orofaciodigital syndrome type 14"], "xref": ["DOID:0060958", "GARD:0013655", "MEDGEN:1635470", "OMIM:615948", "Orphanet:434179", "SCTID:763837007", "UMLS:C4706604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014414", "name": "Stat3-related early-onset multisystem autoimmune disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0061160", "GARD:0017737", "MEDGEN:863232", "NCIT:C157123", "OMIM:615952", "Orphanet:438159", "UMLS:C4014795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014415", "name": "Kallikrein, decreased urinary activity of", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["kallikrein, decreased urinary activity of"], "xref": ["MEDGEN:322759", "MESH:C563653", "OMIM:615953", "UMLS:C1835808"]}
{"category": ["biolink:Disease"], "description": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.", "id": "MONDO:0014416", "name": "Acth-independent macronodular adrenal hyperplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ACTH-independent macronodular adrenal hyperplasia 2", "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation", "ACTH-independent macronodular adrenal hyperplasia type 2", "AIMAH2", "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia", "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5", "primary macronodular adrenal hyperplasia"], "xref": ["DOID:0111624", "GARD:0016034", "MEDGEN:863240", "OMIM:615954", "UMLS:C4014803"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.", "id": "MONDO:0014417", "name": "Spinocerebellar ataxia type 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCA38", "spinocerebellar ataxia type 38"], "xref": ["DOID:0050985", "GARD:0012369", "MEDGEN:1379865", "OMIM:615957", "Orphanet:423296", "SCTID:734021001", "UMLS:C4518337"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.", "id": "MONDO:0014418", "name": "Myopathy, centronuclear, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPEG autosomal recessive centronuclear myopathy", "autosomal recessive centronuclear myopathy caused by mutation in SPEG", "myopathy, centronuclear, 5", "myopathy, centronuclear, type 5"], "xref": ["DOID:0111222", "GARD:0016035", "MEDGEN:863251", "OMIM:615959", "UMLS:C4014814"]}
{"category": ["biolink:Disease"], "description": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.", "id": "MONDO:0014419", "name": "Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Poretti-Boltshauser syndrome", "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"], "xref": ["GARD:0017597", "MEDGEN:863258", "OMIM:615960", "Orphanet:370022", "UMLS:C4014821"]}
{"category": ["biolink:Disease"], "description": "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.", "id": "MONDO:0014420", "name": "Short stature due to primary acid-labile subunit deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acid-labile subunit, deficiency of"], "xref": ["GARD:0016964", "MEDGEN:859716", "OMIM:615961", "Orphanet:140941", "SCTID:721074002", "UMLS:C3900122", "icd11.foundation:29735645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014421", "name": "Glucocorticoid resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002499", "MEDGEN:333960", "MESH:C564221", "NANDO:2200358", "OMIM:615962", "Orphanet:786", "UMLS:C1841972", "icd11.foundation:125216923"]}
{"category": ["biolink:Disease"], "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.", "id": "MONDO:0014422", "name": "Vesicoureteral reflux 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TNXB vesicoureteral reflux (disease)", "vesicoureteral reflux (disease) caused by mutation in TNXB", "vesicoureteral reflux 8", "vesicoureteral reflux type 8"], "xref": ["GARD:0018425", "MEDGEN:863268", "OMIM:615963", "UMLS:C4014831"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.", "id": "MONDO:0014423", "name": "Severe combined immunodeficiency due to dna-pkcs deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCID due to DNA-PKcs deficiency"], "xref": ["DOID:0111961", "GARD:0017441", "MEDGEN:863270", "OMIM:615966", "Orphanet:317425", "SCTID:716871006", "UMLS:C4014833"]}
{"category": ["biolink:Disease"], "description": "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.", "id": "MONDO:0014426", "name": "Nanophthalmos 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TMEM98 nanophthalmia", "nanophthalmia caused by mutation in TMEM98", "nanophthalmos 4", "nanophthalmos type 4"], "xref": ["GARD:0018629", "MEDGEN:863285", "OMIM:615972", "UMLS:C4014848"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.", "id": "MONDO:0014427", "name": "Cone-rod dystrophy 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD20", "POC1B cone-rod dystrophy", "cone-rod dystrophy 20", "cone-rod dystrophy caused by mutation in POC1B", "cone-rod dystrophy type 20"], "xref": ["DOID:0111026", "GARD:0016036", "MEDGEN:863293", "OMIM:615973", "UMLS:C4014856"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.", "id": "MONDO:0014428", "name": "Autosomal recessive nonsyndromic hearing loss 102", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive nonsyndromic hearing loss 102"], "xref": ["DOID:0110463", "GARD:0022652", "MEDGEN:856149", "OMIM:615974", "UMLS:C3892050"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.", "id": "MONDO:0014430", "name": "Intellectual disability, autosomal recessive 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FBXO31 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31", "intellectual disability, autosomal recessive 45", "intellectual disability, autosomal recessive type 45", "mental retardation, autosomal recessive type 45"], "xref": ["DOID:0081209", "GARD:0022567", "MEDGEN:863301", "OMIM:615979", "UMLS:C4014864"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014431", "name": "Lipe-related familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPLD6", "LIPE-related FPLD"], "xref": ["DOID:0070206", "GARD:0013126", "MEDGEN:863306", "OMIM:615980", "Orphanet:435660", "UMLS:C4014869"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.", "id": "MONDO:0014432", "name": "Bardet-biedl syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS2", "BBS2 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 2", "Bardet-Biedl syndrome caused by mutation in BBS2", "Bardet-Biedl syndrome type 2"], "xref": ["DOID:0110124", "GARD:0000821", "MEDGEN:422453", "MESH:C537910", "OMIM:615981", "UMLS:C2936863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014433", "name": "Bardet-biedl syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS4", "Bardet-Biedl syndrome 4", "Bardet-Biedl syndrome type 4"], "xref": ["DOID:0110126", "GARD:0000823", "MEDGEN:423627", "MESH:C537912", "OMIM:615982", "UMLS:C2936864"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.", "id": "MONDO:0014434", "name": "Bardet-biedl syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS5", "BBS5 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 5", "Bardet-Biedl syndrome caused by mutation in BBS5", "Bardet-Biedl syndrome type 5"], "xref": ["DOID:0110127", "GARD:0010204", "MEDGEN:856141", "OMIM:615983", "UMLS:C3892039"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.", "id": "MONDO:0014435", "name": "Bardet-biedl syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS7", "BBS7 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 7", "Bardet-Biedl syndrome caused by mutation in BBS7", "Bardet-Biedl syndrome type 7"], "xref": ["DOID:0110129", "GARD:0010206", "MEDGEN:347180", "MESH:C565916", "OMIM:615984", "UMLS:C1859565"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.", "id": "MONDO:0014436", "name": "Bardet-biedl syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS8", "Bardet-Biedl syndrome 8", "Bardet-Biedl syndrome caused by mutation in TTC8", "Bardet-Biedl syndrome type 8", "TTC8 Bardet-Biedl syndrome"], "xref": ["DOID:0110130", "GARD:0010207", "MEDGEN:347181", "MESH:C565917", "OMIM:615985", "UMLS:C1859566"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.", "id": "MONDO:0014437", "name": "Bardet-biedl syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS9", "BBS9 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 9", "Bardet-Biedl syndrome caused by mutation in BBS9", "Bardet-Biedl syndrome type 9"], "xref": ["DOID:0110131", "GARD:0010208", "MEDGEN:347182", "MESH:C565918", "OMIM:615986", "UMLS:C1859567"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.", "id": "MONDO:0014438", "name": "Bardet-biedl syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS10", "BBS10 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 10", "Bardet-Biedl syndrome caused by mutation in BBS10", "Bardet-Biedl syndrome type 10"], "xref": ["DOID:0110132", "GARD:0010209", "MEDGEN:347909", "MESH:C565919", "OMIM:615987", "UMLS:C1859568"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.", "id": "MONDO:0014439", "name": "Bardet-biedl syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS11", "Bardet-Biedl syndrome 11", "Bardet-Biedl syndrome caused by mutation in TRIM32", "Bardet-Biedl syndrome type 11", "TRIM32 Bardet-Biedl syndrome"], "xref": ["DOID:0110133", "GARD:0010210", "MEDGEN:395295", "MESH:C565920", "OMIM:615988", "UMLS:C1859569"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.", "id": "MONDO:0014440", "name": "Bardet-biedl syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS12", "BBS12 Bardet-Biedl syndrome", "Bardet-Biedl syndrome 12", "Bardet-Biedl syndrome caused by mutation in BBS12", "Bardet-Biedl syndrome type 12"], "xref": ["DOID:0110134", "GARD:0010211", "MEDGEN:347910", "MESH:C565921", "OMIM:615989", "UMLS:C1859570"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.", "id": "MONDO:0014441", "name": "Bardet-biedl syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS13", "Bardet-Biedl syndrome 13", "Bardet-Biedl syndrome caused by mutation in MKS1", "Bardet-Biedl syndrome type 13", "MKS1 Bardet-Biedl syndrome"], "xref": ["DOID:0110135", "GARD:0016037", "MEDGEN:393032", "MESH:C567140", "OMIM:615990", "UMLS:C2673873"]}
{"category": ["biolink:Disease"], "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.", "id": "MONDO:0014442", "name": "Bardet-biedl syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["BBS14", "Bardet-Biedl syndrome 14", "Bardet-Biedl syndrome 14, modifier of", "Bardet-Biedl syndrome type 14"], "xref": ["DOID:0110136", "GARD:0016038", "MEDGEN:393033", "MESH:C567141", "OMIM:615991", "UMLS:C2673874"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.", "id": "MONDO:0014443", "name": "Bardet-biedl syndrome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS15", "Bardet-Biedl syndrome 15", "Bardet-Biedl syndrome caused by mutation in WDPCP", "Bardet-Biedl syndrome type 15", "WDPCP Bardet-Biedl syndrome"], "xref": ["DOID:0110137", "GARD:0016039", "MEDGEN:461477", "OMIM:615992", "UMLS:C3150127"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.", "id": "MONDO:0014444", "name": "Bardet-biedl syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBS16", "Bardet-Biedl syndrome 16", "Bardet-Biedl syndrome caused by mutation in SDCCAG8", "Bardet-Biedl syndrome type 16", "SDCCAG8 Bardet-Biedl syndrome"], "xref": ["DOID:0110138", "GARD:0016040", "MEDGEN:855172", "OMIM:615993", "UMLS:C3889474"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.", "id": "MONDO:0014445", "name": "Bardet-biedl syndrome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS17", "Bardet-Biedl syndrome 17", "Bardet-Biedl syndrome caused by mutation in LZTFL1", "Bardet-Biedl syndrome type 17", "LZTFL1 Bardet-Biedl syndrome"], "xref": ["DOID:0110139", "GARD:0016041", "MEDGEN:811538", "OMIM:615994", "UMLS:C3714980"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.", "id": "MONDO:0014446", "name": "Bardet-biedl syndrome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBIP1 Bardet-Biedl syndrome", "BBS18", "Bardet-Biedl syndrome 18", "Bardet-Biedl syndrome caused by mutation in BBIP1", "Bardet-Biedl syndrome type 18"], "xref": ["DOID:0110140", "GARD:0016042", "MEDGEN:812504", "OMIM:615995", "UMLS:C3806174"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.", "id": "MONDO:0014447", "name": "Bardet-biedl syndrome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS19", "Bardet-Biedl syndrome 19", "Bardet-Biedl syndrome caused by mutation in IFT27", "Bardet-Biedl syndrome type 19", "IFT27 Bardet-Biedl syndrome"], "xref": ["DOID:0110141", "GARD:0016043", "MEDGEN:855173", "OMIM:615996", "UMLS:C3889475"]}
{"category": ["biolink:Disease"], "description": "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.", "id": "MONDO:0014448", "name": "Hyperthyroxinemia, familial dysalbuminemic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bisalbuminemia", "dysalbuminemic hyperthyroxinemia", "dysalbuminemic hypertriiodothyroninemia", "familial Dysalbuminemic hyperthyroidism", "familial Dysalbuminemic hyperthyroxinemia", "hyperthyroxinemia, familial Dysalbuminemic", "hyperthyroxinemia, familial dysalbuminemic"], "xref": ["MEDGEN:90974", "MESH:D050010", "NCIT:C131813", "OMIM:615999", "Orphanet:276271", "SCTID:237547004", "UMLS:C0342185"]}
{"category": ["biolink:Disease"], "description": "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).", "id": "MONDO:0014449", "name": "Congenital analbuminemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0013056", "MEDGEN:930922", "NCIT:C124851", "OMIM:616000", "Orphanet:86816", "SCTID:718721006", "UMLS:C4305253"]}
{"category": ["biolink:Disease"], "description": "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.", "id": "MONDO:0014450", "name": "Breasts and/or nipples, aplasia or hypoplasia of, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTPRF isolated congenital breast hypoplasia/aplasia", "breasts and/or nipples, aplasia or hypoplasia of, 2", "breasts and/or nipples, aplasia or hypoplasia of, type 2", "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF"], "xref": ["GARD:0016044", "MEDGEN:863355", "OMIM:616001", "UMLS:C4014918"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.", "id": "MONDO:0014451", "name": "Focal segmental glomerulosclerosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSGS7", "PAX2 focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis 7", "focal segmental glomerulosclerosis caused by mutation in PAX2", "focal segmental glomerulosclerosis type 7"], "xref": ["DOID:0111132", "GARD:0016045", "MEDGEN:863362", "OMIM:616002", "UMLS:C4014925"]}
{"category": ["biolink:Disease"], "description": "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.", "id": "MONDO:0014452", "name": "Familial dysfibrinogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dysfibrinogenemia", "familial dysfibrinogenemia", "hypodysfibrinogenemia"], "xref": ["GARD:0002004", "ICD9:286.3", "MEDGEN:82901", "NCIT:C131659", "OMIM:616004", "Orphanet:98881", "SCTID:111589005", "UMLS:C0272350"]}
{"category": ["biolink:Disease"], "description": "A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity.", "id": "MONDO:0014453", "name": "Immunodeficiency 36 with lymphoproliferation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APDS2", "IMD36", "activated PI3K-delta syndrome-2", "immunodeficiency 36", "immunodeficiency type 36"], "xref": ["DOID:0111949", "GARD:0016046", "MEDGEN:863371", "OMIM:616005", "Orphanet:693681", "UMLS:C4014934"]}
{"category": ["biolink:Disease"], "description": "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.", "id": "MONDO:0014454", "name": "Hennekam lymphangiectasia-lymphedema syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAT4 Hennekam syndrome", "Hennekam lymphangiectasia-lymphedema syndrome 2", "Hennekam lymphangiectasia-lymphedema syndrome type 2", "Hennekam syndrome caused by mutation in FAT4"], "xref": ["GARD:0016047", "MEDGEN:863376", "OMIM:616006", "UMLS:C4014939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014455", "name": "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAGSSS"], "xref": ["GARD:0017727", "MEDGEN:863379", "OMIM:616007", "Orphanet:436174", "UMLS:C4014942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014456", "name": "Autosomal recessive severe congenital neutropenia due to jagn1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112134", "GARD:0017702", "MEDGEN:863391", "OMIM:616022", "Orphanet:423384", "UMLS:C4014954"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.", "id": "MONDO:0014457", "name": "Hyperphosphatasia with intellectual disability syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PIGW hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 5", "hyperphosphatasia with intellectual disability syndrome type 5", "hyperphosphatasia with mental retardation syndrome 5", "hyperphosphatasia with mental retardation syndrome type 5", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW"], "xref": ["DOID:0070432", "GARD:0018353", "MEDGEN:863395", "OMIM:616025", "UMLS:C4014958"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.", "id": "MONDO:0014458", "name": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "Fanconi syndrome caused by mutation in HNF4A", "HNF4A Fanconi syndrome", "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young"], "xref": ["DOID:0080760", "GARD:0016048", "MEDGEN:863399", "OMIM:616026", "UMLS:C4014962"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.", "id": "MONDO:0014459", "name": "Adams-oliver syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AOS5", "Adams-Oliver syndrome 5", "Adams-Oliver syndrome caused by mutation in NOTCH1", "Adams-Oliver syndrome caused by mutation in Notch1", "Adams-Oliver syndrome type 5"], "xref": ["GARD:0016049", "MEDGEN:863407", "OMIM:616028", "UMLS:C4014970"]}
{"category": ["biolink:Disease"], "description": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.", "id": "MONDO:0014460", "name": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ectodermal dysplasia-short stature syndrome", "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"], "xref": ["GARD:0017703", "MEDGEN:863424", "OMIM:616029", "Orphanet:423454", "UMLS:C4014987"]}
{"category": ["biolink:Disease"], "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.", "id": "MONDO:0014461", "name": "Hypogonadotropic hypogonadism 22 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FEZF1 hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism 22 with or without anosmia", "hypogonadotropic hypogonadism 22, with or without anosmia", "hypogonadotropic hypogonadism caused by mutation in FEZF1"], "xref": ["DOID:0090081", "GARD:0016050", "MEDGEN:863425", "OMIM:616030", "UMLS:C4014988"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.", "id": "MONDO:0014462", "name": "Focal segmental glomerulosclerosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ANLN focal segmental glomerulosclerosis", "FSGS8", "focal segmental glomerulosclerosis 8", "focal segmental glomerulosclerosis caused by mutation in ANLN", "focal segmental glomerulosclerosis type 8"], "xref": ["DOID:0111133", "GARD:0016051", "MEDGEN:863430", "OMIM:616032", "UMLS:C4014993"]}
{"category": ["biolink:Disease"], "description": "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.", "id": "MONDO:0014464", "name": "Progressive encephalopathy with leukodystrophy due to decr deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2,4-dienoyl-CoA reductase deficiency", "DECR deficiency with hyperlysinemia", "progressive encephalopathy with leukodystrophy due to DECR deficiency"], "xref": ["GARD:0010327", "MEDGEN:346552", "MESH:C565624", "OMIM:616034", "Orphanet:431361", "UMLS:C1857252"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.", "id": "MONDO:0014465", "name": "Primary ciliary dyskinesia 30", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CCDC151 primary ciliary dyskinesia", "CILD30", "ciliary dyskinesia, primary, type 30", "primary ciliary dyskinesia caused by mutation in CCDC151", "primary ciliary dyskinesia type 30"], "xref": ["DOID:0110624", "GARD:0016052", "MEDGEN:863453", "OMIM:616037", "UMLS:C4015016"]}
{"category": ["biolink:Disease"], "description": "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.", "id": "MONDO:0014466", "name": "Neu-laxova syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Neu-Laxova syndrome 2", "Neu-Laxova syndrome caused by mutation in PSAT1", "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency", "Neu-Laxova syndrome type 2", "PSAT1 Neu-Laxova syndrome", "phosphoserine aminotransferase deficiency, prenatal form"], "xref": ["DOID:0080075", "GARD:0022335", "MEDGEN:863456", "OMIM:616038", "Orphanet:583602", "UMLS:C4015019"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.", "id": "MONDO:0014467", "name": "Charcot-marie-tooth disease recessive intermediate d", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMTRID", "COX6A1 Charcot-Marie-Tooth disease", "Charcot-Marie-Tooth disease caused by mutation in COX6A1", "Charcot-Marie-Tooth disease recessive intermediate type D", "Charcot-Marie-Tooth disease, recessive Intermediate type D", "RI-CMT type D", "autosomal recessive intermediate Charcot-Marie-Tooth disease type D"], "xref": ["DOID:0110203", "GARD:0017723", "MEDGEN:1800450", "OMIM:616039", "Orphanet:435998", "UMLS:C5569027"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.", "id": "MONDO:0014468", "name": "Congenital myasthenic syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS7", "SYT2 congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in SYT2", "congenital myasthenic syndrome type 7", "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"], "xref": ["DOID:0110659", "GARD:0016053", "MEDGEN:863475", "OMIM:616040", "UMLS:C4015038"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.", "id": "MONDO:0014469", "name": "Autosomal recessive nonsyndromic hearing loss 103", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110464", "GARD:0022653", "MEDGEN:863487", "OMIM:616042", "UMLS:C4015050"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.", "id": "MONDO:0014470", "name": "Autosomal dominant nonsyndromic hearing loss 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0110586", "GARD:0018140", "MEDGEN:856147", "OMIM:616044", "UMLS:C3892048"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).", "id": "MONDO:0014471", "name": "Mitochondrial proton-transporting atp synthase complex deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111143", "GARD:0018649", "MEDGEN:1655626", "OMIMPS:604273", "Orphanet:254913", "UMLS:C4757950", "icd11.foundation:902255625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014472", "name": "Periodic fever-infantile enterocolitis-autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Autoinflammation with Infantile Enterocolitis", "NLRC4-related MAS", "NLRC4-related autoinflammatory syndrome with MAS", "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome", "NLRC4-related infantile enterocolitis-autoinflammatory syndrome", "NLRC4-related macrophage activation syndrome", "autoinflammation with infantile enterocolitis"], "xref": ["GARD:0017725", "MEDGEN:863504", "NANDO:1200994", "NANDO:2200459", "NORD:1939", "OMIM:616050", "Orphanet:436166", "UMLS:C4015067"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.", "id": "MONDO:0014473", "name": "Microcephaly 13, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CENPE autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CENPE", "microcephaly 13, primary, autosomal recessive"], "xref": ["DOID:0070283", "GARD:0016054", "MEDGEN:863517", "OMIM:616051", "UMLS:C4015080"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.", "id": "MONDO:0014474", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2u", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ISPD autosomal recessive limb-girdle muscular dystrophy", "LGMD2U", "MDDGC7", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD"], "xref": ["DOID:0110295", "GARD:0017519", "MEDGEN:1683417", "OMIM:616052", "Orphanet:352479", "UMLS:C5190987"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.", "id": "MONDO:0014475", "name": "Spinocerebellar ataxia type 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCA40", "spinocerebellar ataxia type 40"], "xref": ["DOID:0050986", "GARD:0012371", "MEDGEN:1385103", "OMIM:616053", "Orphanet:423275", "SCTID:734020000", "UMLS:C4518336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014476", "name": "Episodic ataxia type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["episodic ataxia type 8"], "xref": ["DOID:0050996", "GARD:0017665", "MEDGEN:863545", "OMIM:616055", "Orphanet:401953", "UMLS:C4015108"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.", "id": "MONDO:0014477", "name": "Developmental and epileptic encephalopathy, 26", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE26", "EIEE26", "KCNB1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 26", "early infantile epileptic encephalopathy 26", "early infantile epileptic encephalopathy caused by mutation in KCNB1", "epileptic encephalopathy, early infantile, 26", "epileptic encephalopathy, early infantile, type 26"], "xref": ["DOID:0080461", "GARD:0012391", "MEDGEN:863556", "OMIM:616056", "UMLS:C4015119"]}
{"category": ["biolink:Disease"], "description": "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.", "id": "MONDO:0014478", "name": "Mirror movements 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNAL4 familial congenital mirror movements", "familial congenital mirror movements caused by mutation in DNAL4", "mirror movements 3", "mirror movements type 3"], "xref": ["DOID:0070639", "GARD:0016055", "MEDGEN:863561", "OMIM:616059", "UMLS:C4015124"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014479", "name": "Porokeratosis 8, disseminated superficial actinic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["porokeratosis 8, disseminated superficial actinic type"], "xref": ["GARD:0016056", "MEDGEN:863565", "OMIM:616063", "UMLS:C4015128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014480", "name": "46,xy sex reversal 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 9", "46,XY sex reversal 9", "46XY sex reversal 9"], "xref": ["DOID:0111770", "GARD:0018361", "MEDGEN:863566", "OMIM:616067", "UMLS:C4015129"]}
{"category": ["biolink:Disease"], "description": "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.", "id": "MONDO:0014481", "name": "Inflammatory skin and bowel disease, neonatal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EGFR neonatal inflammatory skin and bowel disease", "inflammatory skin and bowel disease, neonatal, 2", "inflammatory skin and bowel disease, neonatal, type 2", "neonatal inflammatory skin and bowel disease caused by mutation in EGFR"], "xref": ["DOID:0061191", "GARD:0018430", "MEDGEN:863567", "OMIM:616069", "UMLS:C4015130"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms.", "id": "MONDO:0014482", "name": "Intellectual disability, autosomal dominant 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD29", "SETBP1 Haploinsufficiency Disorder", "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome", "SETBP1-related complex neurodevelopmental disorder", "autosomal dominant intellectual disability 29", "autosomal dominant mental retardation 29", "intellectual disability, autosomal dominant type 29", "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1", "mental retardation, autosomal dominant type 29"], "xref": ["DOID:0070059", "GARD:0013379", "MEDGEN:863578", "NORD:1958", "OMIM:616078", "UMLS:C4015141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014483", "name": "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinal dystrophy with inner nuclear layer and ganglion cell anomalies"], "xref": ["GARD:0017640", "MEDGEN:863583", "OMIM:616079", "Orphanet:397758", "UMLS:C4015146"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.", "id": "MONDO:0014484", "name": "Microcephaly 12, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDK6 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CDK6", "microcephaly 12, primary, autosomal recessive"], "xref": ["DOID:0070284", "GARD:0016057", "MEDGEN:863593", "OMIM:616080", "UMLS:C4015156"]}
{"category": ["biolink:Disease"], "description": "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.", "id": "MONDO:0014485", "name": "Pontocerebellar hypoplasia, type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EXOSC8 pontocerebellar hypoplasia type 1", "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8", "pontocerebellar hypoplasia, type 1C"], "xref": ["DOID:0112334", "GARD:0016058", "MEDGEN:863597", "OMIM:616081", "UMLS:C4015160"]}
{"category": ["biolink:Disease"], "description": "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.", "id": "MONDO:0014486", "name": "Intellectual disability, autosomal dominant 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRD30", "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome", "autosomal dominant intellectual disability 30", "intellectual disability, autosomal dominant 30", "intellectual disability, autosomal dominant type 30", "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11", "mental retardation, autosomal dominant type 30"], "xref": ["DOID:0070060", "GARD:0013136", "MEDGEN:863604", "OMIM:616083", "Orphanet:694304", "Orphanet:694308", "UMLS:C4015167"]}
{"category": ["biolink:Disease"], "description": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.", "id": "MONDO:0014487", "name": "Congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SIFD", "SIFD syndrome"], "xref": ["DOID:0080209", "GARD:0017586", "MEDGEN:863609", "OMIM:616084", "Orphanet:369861", "UMLS:C4015172"]}
{"category": ["biolink:Disease"], "description": "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.", "id": "MONDO:0014488", "name": "Diabetes mellitus, noninsulin-dependent, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["TBC1D4 type 2 diabetes mellitus", "diabetes mellitus, noninsulin-dependent, 5", "diabetes mellitus, noninsulin-dependent, type 5", "type 2 diabetes mellitus caused by mutation in TBC1D4"], "xref": ["GARD:0024993", "MEDGEN:863620", "OMIM:616087", "UMLS:C4015183"]}
{"category": ["biolink:Disease"], "description": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.", "id": "MONDO:0014489", "name": "Limb-girdle muscular dystrophy due to pomk deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD due to POMK deficiency"], "xref": ["DOID:0112381", "GARD:0017769", "MEDGEN:863621", "OMIM:616094", "Orphanet:445110", "UMLS:C4015184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014490", "name": "Ketoacidosis due to monocarboxylate transporter-1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017733", "MEDGEN:863623", "OMIM:616095", "Orphanet:438075", "UMLS:C4015186"]}
{"category": ["biolink:Disease"], "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.", "id": "MONDO:0014491", "name": "Immunodeficiency 37", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BCL10 primary immunodeficiency disease", "combined immunodeficiency due to BCL10 deficiency", "immunodeficiency 37", "immunodeficiency type 37", "primary immunodeficiency disease caused by mutation in BCL10"], "xref": ["DOID:0111939", "GARD:0024994", "MEDGEN:863632", "OMIM:616098", "UMLS:C4015195"]}
{"category": ["biolink:Disease"], "description": "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.", "id": "MONDO:0014492", "name": "Wooly hair-palmoplantar keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["KWWH type IV", "keratoderma with woolly hair type IV", "keratoderma with wooly hair type IV", "woolly hair-palmoplantar hyperkeratosis syndrome", "wooly hair-palmoplantar hyperkeratosis syndrome"], "xref": ["DOID:0070554", "GARD:0017697", "MEDGEN:863639", "OMIM:616099", "Orphanet:420686", "SCTID:764108000", "UMLS:C4015202"]}
{"category": ["biolink:Disease"], "description": "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.", "id": "MONDO:0014493", "name": "Autoimmune lymphoproliferative syndrome due to ctla4 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALPS due to CTLA4 haploinsufficiency", "ALPS type 5", "ALPS type V", "CHAI", "CTLA-4 haploinsufficiency with autoimmune infiltration disease", "CTLA4 haploinsufficiency", "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency", "autoimmune lymphoproliferative syndrome type 5", "autoimmune lymphoproliferative syndrome type V", "chai", "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"], "xref": ["GARD:0012316", "MEDGEN:863651", "NCIT:C126341", "OMIM:616100", "Orphanet:436159", "UMLS:C4015214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014495", "name": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["retinal dystrophy-juvenile cataract-short stature syndrome"], "xref": ["GARD:0017730", "MEDGEN:863679", "OMIM:616108", "Orphanet:436245", "UMLS:C4015242"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.", "id": "MONDO:0014496", "name": "Mitochondrial complex iii deficiency nuclear type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["UQCC3 mitochondrial complex III deficiency", "mitochondrial complex III deficiency caused by mutation in UQCC3"], "xref": ["DOID:0080118", "GARD:0016060", "MEDGEN:863690", "OMIM:616111", "UMLS:C4015253"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014497", "name": "Polyendocrine-polyneuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["polyendocrine-polyneuropathy syndrome"], "xref": ["GARD:0017787", "MEDGEN:863698", "OMIM:616113", "Orphanet:453533", "UMLS:C4015261"]}
{"category": ["biolink:Disease"], "description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.", "id": "MONDO:0014498", "name": "Familial cold autoinflammatory syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NLRC4 familial cold autoinflammatory syndrome", "NLRC4-related familial cold autoinflammatory syndrome", "familial cold autoinflammatory syndrome 4", "familial cold autoinflammatory syndrome caused by mutation in NLRC4", "familial cold autoinflammatory syndrome type 4"], "xref": ["DOID:0090065", "GARD:0016061", "MEDGEN:863713", "OMIM:616115", "Orphanet:576349", "UMLS:C4015276"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.", "id": "MONDO:0014499", "name": "Intellectual disability, autosomal recessive 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NDST1 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1", "intellectual disability, autosomal recessive 46", "intellectual disability, autosomal recessive type 46", "mental retardation, autosomal recessive type 46"], "xref": ["DOID:0081210", "GARD:0022568", "MEDGEN:863720", "OMIM:616116", "UMLS:C4015283"]}
{"category": ["biolink:Disease"], "description": "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.", "id": "MONDO:0014500", "name": "Atrial conduction disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0005304", "GARD:0017729"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014501", "name": "Macular degeneration, early-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["macular degeneration, early-onset"], "xref": ["GARD:0024995", "MEDGEN:863723", "OMIM:616118", "UMLS:C4015286"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.", "id": "MONDO:0014503", "name": "Autosomal recessive spinocerebellar ataxia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CWF19L1 autosomal recessive congenital cerebellar ataxia", "SCAR17", "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1", "autosomal recessive spinocerebellar ataxia type 17", "spinocerebellar ataxia autosomal recessive type 17", "spinocerebellar ataxia, autosomal recessive type 17"], "xref": ["DOID:0080064", "GARD:0017786", "MEDGEN:863738", "OMIM:616127", "Orphanet:453521", "UMLS:C4015301"]}
{"category": ["biolink:Disease"], "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.", "id": "MONDO:0014504", "name": "Perrault syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Perrault syndrome 5", "Perrault syndrome caused by mutation in TWNK", "Perrault syndrome type 5", "TWNK Perrault syndrome"], "xref": ["GARD:0016062", "MEDGEN:863744", "OMIM:616138", "UMLS:C4015307"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.", "id": "MONDO:0014505", "name": "Developmental and epileptic encephalopathy, 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE27", "EIEE27", "GRIN2B early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 27", "early infantile epileptic encephalopathy caused by mutation in GRIN2B", "epileptic encephalopathy, early infantile, 27", "epileptic encephalopathy, early infantile, type 27"], "xref": ["DOID:0080444", "GARD:0016063", "MEDGEN:863753", "OMIM:616139", "UMLS:C4015316"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.", "id": "MONDO:0014506", "name": "Hypomyelinating leukodystrophy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLD9", "RARS leukodystrophy", "RARS-related autosomal recessive hypomyelinating leukodystrophy", "hypomyelinating leukodystrophy type 9", "leukodystrophy caused by mutation in RARS", "leukodystrophy, hypomyelinating, type 9"], "xref": ["DOID:0060791", "GARD:0017734", "MEDGEN:863760", "OMIM:616140", "Orphanet:438114", "UMLS:C4015323"]}
{"category": ["biolink:Disease"], "description": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.", "id": "MONDO:0014507", "name": "Catel-manzke syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Catel Manzke Syndrome", "Catel-Manzke syndrome", "Palatodigital syndrome, Catel-Manzke type", "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome", "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome", "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome", "index finger anomaly-Pierre Robin syndrome", "micrognathia digital syndrome"], "xref": ["DOID:0081122", "GARD:0000028", "MEDGEN:375536", "MESH:C535347", "NORD:901", "OMIM:302380", "OMIM:616145", "Orphanet:1388", "SCTID:722383001", "UMLS:C1844887", "icd11.foundation:1023183031"]}
{"category": ["biolink:Disease"], "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.", "id": "MONDO:0014508", "name": "Vitelliform macular dystrophy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPG1 vitelliform macular dystrophy", "macular dystrophy, vitelliform, 4", "macular dystrophy, vitelliform, type 4", "vitelliform macular dystrophy caused by mutation in IMPG1"], "xref": ["GARD:0016064", "MEDGEN:863779", "OMIM:616151", "UMLS:C4015342"]}
{"category": ["biolink:Disease"], "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.", "id": "MONDO:0014509", "name": "Vitelliform macular dystrophy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPG2 vitelliform macular dystrophy", "macular dystrophy, vitelliform, 5", "macular dystrophy, vitelliform, type 5", "vitelliform macular dystrophy caused by mutation in IMPG2"], "xref": ["GARD:0016065", "MEDGEN:863780", "OMIM:616152", "UMLS:C4015343"]}
{"category": ["biolink:Disease"], "description": "A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.", "id": "MONDO:0014510", "name": "Fatty acyl-coa reductase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAR1 deficiency", "fatty acyl-CoA reductase 1 deficiency", "fatty acyl-CoA reductase 1 disorder", "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency", "rhizomelic chondrodysplasia punctata type 4", "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency", "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency", "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder"], "xref": ["DOID:0081243", "GARD:0013319", "MEDGEN:863781", "OMIM:616154", "Orphanet:438178", "UMLS:C4015344"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.", "id": "MONDO:0014511", "name": "Charcot-marie-tooth disease axonal type 2s", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2S", "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2", "Charcot-Marie-Tooth disease type 2S", "IGHMBP2 Charcot-Marie-Tooth disease"], "xref": ["DOID:0110171", "GARD:0017751", "MEDGEN:863786", "OMIM:616155", "Orphanet:443073", "UMLS:C4015349"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.", "id": "MONDO:0014512", "name": "PURA syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MRD31", "PURA syndrome", "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation", "autosomal dominant intellectual disability 31", "intellectual disability, autosomal dominant type 31", "mental retardation, autosomal dominant type 31", "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"], "xref": ["DOID:0070061", "GARD:0017740", "OMIM:616158", "Orphanet:438216"]}
{"category": ["biolink:Disease"], "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.", "id": "MONDO:0014513", "name": "Nemaline myopathy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LMOD3 nemaline myopathy", "NEM10", "nemaline myopathy 10", "nemaline myopathy caused by mutation in LMOD3", "nemaline myopathy type 10"], "xref": ["DOID:0110931", "GARD:0016066", "MEDGEN:863797", "OMIM:616165", "UMLS:C4015360"]}
{"category": ["biolink:Disease"], "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.", "id": "MONDO:0014514", "name": "Aortic aneurysm, familial thoracic 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MFAP5 familial thoracic aortic aneurysm and aortic dissection", "aortic aneurysm, familial thoracic 9", "aortic aneurysm, familial thoracic type 9", "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5"], "xref": ["GARD:0016067", "MEDGEN:863805", "OMIM:616166", "UMLS:C4015368"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014515", "name": "Macular dystrophy with central cone involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["macular dystrophy with central cone involvement"], "xref": ["GARD:0024996", "MEDGEN:863808", "OMIM:616170", "UMLS:C4015371"]}
{"category": ["biolink:Disease"], "description": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.", "id": "MONDO:0014516", "name": "Microcephaly and chorioretinopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PLK4 microcephaly and chorioretinopathy", "microcephaly and chorioretinopathy caused by mutation in PLK4", "microcephaly and chorioretinopathy type 2", "microcephaly and chorioretinopathy, autosomal recessive, type 2"], "xref": ["DOID:0080106", "GARD:0024997", "MEDGEN:863825", "OMIM:616171", "UMLS:C4015388"]}
{"category": ["biolink:Disease"], "description": "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.", "id": "MONDO:0014517", "name": "Generalized epilepsy with febrile seizures plus, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STX1B generalised epilepsy with febrile seizures plus", "STX1B generalized epilepsy with febrile seizures plus", "STX1b generalised epilepsy with febrile seizures plus", "STX1b generalized epilepsy with febrile seizures plus", "generalised epilepsy with febrile seizures plus caused by mutation in STX1B", "generalised epilepsy with febrile seizures plus caused by mutation in STX1b", "generalized epilepsy with febrile seizures plus caused by mutation in STX1B", "generalized epilepsy with febrile seizures plus caused by mutation in STX1b", "generalized epilepsy with febrile seizures plus, type 9"], "xref": ["DOID:0111301", "GARD:0018668", "MEDGEN:863832", "OMIM:616172", "UMLS:C4015395"]}
{"category": ["biolink:Disease"], "description": "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.", "id": "MONDO:0014518", "name": "Platelet-type bleeding disorder 19", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT19", "PRKACG isolated hereditary giant platelet disorder", "isolated hereditary giant platelet disorder caused by mutation in PRKACG", "severe autosomal recessive macrothrombocytopenia"], "xref": ["DOID:0111048", "GARD:0017738", "MEDGEN:863842", "OMIM:616176", "Orphanet:438207", "UMLS:C4015405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014520", "name": "46,xx ovarian dysgenesis-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080496", "GARD:0017760", "MEDGEN:863846", "OMIM:616185", "Orphanet:444048", "UMLS:C4015409"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.", "id": "MONDO:0014521", "name": "Progressive myoclonic epilepsy type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EPM7", "KCNC1 progressive myoclonic epilepsy", "MEAK", "PME type 7", "epilepsy, progressive myoclonic type 7", "meak", "myoclonus epilepsy and ataxia due to potassium channel mutation", "progressive myoclonic epilepsy caused by mutation in KCNC1", "progressive myoclonic epilepsy due to KV3.1 deficiency", "progressive myoclonus epilepsy type 7"], "xref": ["DOID:0111447", "GARD:0017715", "MEDGEN:863857", "NCIT:C142804", "OMIM:616187", "Orphanet:435438", "UMLS:C4015420"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014522", "name": "Retinal dystrophy and obesity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinal dystrophy and obesity"], "xref": ["GARD:0024998", "MEDGEN:863861", "OMIM:616188", "UMLS:C4015424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014523", "name": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"], "xref": ["GARD:0017768", "MEDGEN:863873", "OMIM:616192", "Orphanet:445062", "UMLS:C4015436"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.", "id": "MONDO:0014524", "name": "Intellectual disability, autosomal recessive 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FMN2 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2", "intellectual developmental disorder, autosomal recessive 47", "intellectual disability, autosomal recessive 47", "intellectual disability, autosomal recessive type 47", "mental retardation, autosomal recessive type 47"], "xref": ["DOID:0081211", "GARD:0022569", "MEDGEN:863881", "OMIM:616193", "UMLS:C4015444"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.", "id": "MONDO:0014525", "name": "Combined oxidative phosphorylation defect type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD23", "GTPBP3 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3", "combined oxidative phosphorylation deficiency type 23"], "xref": ["DOID:0111500", "GARD:0017759", "MEDGEN:1799166", "OMIM:616198", "Orphanet:444013", "UMLS:C5567743"]}
{"category": ["biolink:Disease"], "description": "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.", "id": "MONDO:0014526", "name": "Polyglucosan body myopathy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GYG1 polyglucosan body myopathy", "polyglucosan body myopathy caused by mutation in GYG1", "polyglucosan body myopathy type 2"], "xref": ["GARD:0017793", "MEDGEN:863889", "OMIM:616199", "Orphanet:456369", "UMLS:C4015452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014527", "name": "Ruijs-Aalfs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["Ruijs-Aalfs syndrome"], "xref": ["DOID:0111264", "GARD:0017722", "MEDGEN:863898", "OMIM:616200", "Orphanet:435953", "UMLS:C4015461"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).", "id": "MONDO:0014528", "name": "Chronic atrial and intestinal dysrhythmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["caid syndrome", "chronic atrial and intestinal dysrhythmia", "chronic atrial dysrhythmia-intestinal motility disorder"], "xref": ["DOID:0060339", "GARD:0012281", "MEDGEN:863911", "OMIM:616201", "Orphanet:435988", "SCTID:720507006", "UMLS:C4015474"]}
{"category": ["biolink:Disease"], "description": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.", "id": "MONDO:0014529", "name": "Cerebellar-facial-dental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cerebellofaciodental syndrome", "cerebellar-facial-dental syndrome"], "xref": ["DOID:0080898", "GARD:0017761", "MEDGEN:863932", "OMIM:616202", "Orphanet:444072", "UMLS:C4015495"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.", "id": "MONDO:0014530", "name": "Autosomal recessive spinocerebellar ataxia 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome", "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome", "SCAR18", "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2", "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2", "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency", "autosomal recessive spinocerebellar ataxia type 18", "spinocerebellar ataxia, autosomal recessive type 18"], "xref": ["DOID:0080042", "GARD:0017557", "MEDGEN:863942", "OMIM:616204", "Orphanet:363432", "UMLS:C4015505"]}
{"category": ["biolink:Disease"], "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.", "id": "MONDO:0014531", "name": "Amyotrophic lateral sclerosis type 22", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS 22", "TUBA4A amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia", "amyotrophic lateral sclerosis caused by mutation in TUBA4A", "amyotrophic lateral sclerosis type 22"], "xref": ["DOID:0060355", "GARD:0016068", "MEDGEN:863949", "OMIM:616208", "UMLS:C4015512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014532", "name": "Autosomal dominant mitochondrial myopathy with exercise intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081357", "GARD:0017794", "MEDGEN:863950", "OMIM:616209", "Orphanet:457050", "UMLS:C4015513"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.", "id": "MONDO:0014533", "name": "Developmental and epileptic encephalopathy, 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE28", "EIEE28", "WOREE syndrome", "WWOX early infantile epileptic encephalopathy", "WWOX-related epileptic encephalopathy", "developmental and epileptic encephalopathy 28", "early infantile epileptic encephalopathy caused by mutation in WWOX", "epileptic encephalopathy, early infantile, 28", "epileptic encephalopathy, early infantile, type 28"], "xref": ["DOID:0080452", "GARD:0016069", "MEDGEN:863956", "OMIM:616211", "UMLS:C4015519"]}
{"category": ["biolink:Disease"], "description": "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.", "id": "MONDO:0014534", "name": "Lissencephaly 6 with microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KATNB1 Microlissencephaly", "KATNB1 microlissencephaly", "Microlissencephaly caused by mutation in KATNB1", "lissencephaly 6 with microcephaly", "lissencephaly 6, with microcephaly", "microlissencephaly caused by mutation in KATNB1"], "xref": ["DOID:0112236", "GARD:0024999", "MEDGEN:863962", "OMIM:616212", "UMLS:C4015525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014535", "name": "Hyperproinsulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperproinsulinemia"], "xref": ["EFO:0009650", "ICD9:250.80", "MEDGEN:137967", "MESH:C562776", "OMIM:616214", "SCTID:237613005", "UMLS:C0342283"]}
{"category": ["biolink:Disease"], "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene that impair transcriptional repression and megakaryocyte maturation. It is characterized by lifelong thrombocytopenia, mild mucocutaneous bleeding, and variable red cell macrocytosis. Affected individuals have a significantly increased susceptibility to hematologic malignancies, including B‑cell ALL, myelodysplastic syndrome, CMML, and mixed‑phenotype acute leukemia, with onset ranging from childhood to adulthood. Functional studies show that pathogenic ETV6 variants disrupt DNA binding, alter nuclear localization, and exert dominant‑negative effects on hematopoiesis, providing a mechanistic basis for both the platelet phenotype and cancer predisposition.", "id": "MONDO:0014536", "name": "Thrombocytopenia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["ETV6 thrombocytopenia", "ETV6-related thrombocytopenia with or without myeloid malignancy", "thrombocytopenia 5", "thrombocytopenia caused by mutation in ETV6"], "xref": ["GARD:0025000", "MEDGEN:863974", "NCIT:C203436", "OMIM:616216", "UMLS:C4015537"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.", "id": "MONDO:0014537", "name": "Nephronophthisis 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DCDC2 nephronophthisis (disease)", "NPHP19", "nephronophthisis (disease) caused by mutation in DCDC2", "nephronophthisis 19", "nephronophthisis type 19"], "xref": ["DOID:0111126", "GARD:0018081", "MEDGEN:863979", "OMIM:616217", "UMLS:C4015542"]}
{"category": ["biolink:Disease"], "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.", "id": "MONDO:0014538", "name": "Fibrosis of extraocular muscles, congenital, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL25A1 congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in COL25A1", "fibrosis of extraocular muscles, congenital, 5", "fibrosis of extraocular muscles, congenital, type 5"], "xref": ["DOID:0081020", "GARD:0018164", "MEDGEN:863989", "OMIM:616219", "UMLS:C4015552"]}
{"category": ["biolink:Disease"], "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.", "id": "MONDO:0014539", "name": "Focal segmental glomerulosclerosis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CRB2 focal segmental glomerulosclerosis", "FSGS9", "focal segmental glomerulosclerosis 9", "focal segmental glomerulosclerosis caused by mutation in CRB2", "focal segmental glomerulosclerosis type 9"], "xref": ["DOID:0111134", "GARD:0016070", "MEDGEN:863992", "OMIM:616220", "UMLS:C4015555"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.", "id": "MONDO:0014540", "name": "Amelogenesis imperfecta type 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1H", "ITGB6 amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in ITGB6"], "xref": ["DOID:0110064", "GARD:0016071", "MEDGEN:863994", "OMIM:616221", "UMLS:C4015557"]}
{"category": ["biolink:Disease"], "description": "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.", "id": "MONDO:0014541", "name": "Motor developmental delay due to 14q32.2 paternally expressed gene defect", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mUPD14 syndrome", "maternal uniparental disomy chromosome 14 syndrome"], "xref": ["DOID:0111713", "GARD:0013431", "MEDGEN:863995", "NCIT:C120409", "OMIM:616222", "Orphanet:254516", "UMLS:C4015558"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.", "id": "MONDO:0014542", "name": "Congenital myasthenic syndrome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALG14 congenital myasthenic syndrome", "CMS15", "congenital myasthenic syndrome caused by mutation in ALG14", "congenital myasthenic syndrome type 15", "myasthenic syndrome, congenital, 15, without tubular aggregates", "myasthenic syndrome, congenital, type 15"], "xref": ["DOID:0110658", "GARD:0018453", "MEDGEN:864033", "OMIM:616227", "UMLS:C4015596"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.", "id": "MONDO:0014543", "name": "Congenital myasthenic syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALG2 congenital myasthenic syndromes with glycosylation defect", "CMS14", "CMSTA3", "congenital myasthenic syndrome 14", "congenital myasthenic syndrome type 14", "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2", "myasthenic syndrome, congenital, 14, with tubular aggregates", "myasthenic syndrome, congenital, type 14"], "xref": ["DOID:0110669", "GARD:0018454", "MEDGEN:864034", "OMIM:616228", "UMLS:C4015597"]}
{"category": ["biolink:Disease"], "description": "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.", "id": "MONDO:0014544", "name": "Osteogenesis imperfecta type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI16"], "xref": ["DOID:0110345", "GARD:0016072", "MEDGEN:864047", "OMIM:616229", "UMLS:C4015610"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.", "id": "MONDO:0014545", "name": "Progressive myoclonic epilepsy type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CERS1 progressive myoclonic epilepsy", "EPM8", "PME type 8", "epilepsy, progressive myoclonic, type 8", "progressive myoclonic epilepsy caused by mutation in CERS1", "progressive myoclonic epilepsy due to CERS1 deficiency", "progressive myoclonus epilepsy type 8"], "xref": ["DOID:0111451", "GARD:0017706", "MEDGEN:1680582", "OMIM:616230", "Orphanet:424027", "UMLS:C5190825"]}
{"category": ["biolink:Disease"], "description": "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.", "id": "MONDO:0014546", "name": "Myopathy due to calsequestrin and serca1 protein overload", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016770", "MEDGEN:864061", "OMIM:616231", "Orphanet:88635", "SCTID:724095006", "UMLS:C4015624"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.", "id": "MONDO:0014547", "name": "Combined oxidative phosphorylation defect type 24", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD24", "NARS2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in NARS2", "combined oxidative phosphorylation deficiency type 24"], "xref": ["DOID:0111485", "GARD:0017765", "MEDGEN:864080", "OMIM:616239", "Orphanet:444458", "UMLS:C4015643"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.", "id": "MONDO:0014548", "name": "Long qt syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CALM1 long QT syndrome", "LQT14", "long QT syndrome 14", "long QT syndrome caused by mutation in CALM1", "long QT syndrome type 14"], "xref": ["DOID:0110655", "GARD:0016073", "MEDGEN:864108", "NCIT:C177534", "OMIM:616247", "UMLS:C4015671"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.", "id": "MONDO:0014549", "name": "Lethal congenital contracture syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZBTB42 lethal congenital contracture syndrome", "lethal congenital contracture syndrome 6", "lethal congenital contracture syndrome caused by mutation in ZBTB42", "lethal congenital contracture syndrome type 6"], "xref": ["DOID:0061262", "GARD:0025001", "MEDGEN:864123", "OMIM:616248", "UMLS:C4015686"]}
{"category": ["biolink:Disease"], "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.", "id": "MONDO:0014550", "name": "Long qt syndrome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CALM2 long QT syndrome", "LQT15", "long QT syndrome 15", "long QT syndrome caused by mutation in CALM2", "long QT syndrome type 15"], "xref": ["DOID:0110656", "GARD:0016074", "MEDGEN:864132", "OMIM:616249", "UMLS:C4015695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014551", "name": "Short stature with nonspecific skeletal abnormalities 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SNSK", "short stature with nonspecific skeletal abnormalities 1"], "xref": ["OMIM:616255"]}
{"category": ["biolink:Disease"], "description": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.", "id": "MONDO:0014552", "name": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Meckel syndrome type 12"], "xref": ["GARD:0017743", "MEDGEN:864138", "OMIM:616258", "Orphanet:439897", "UMLS:C4015701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014553", "name": "Tenorio syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Tenorio syndrome"], "xref": ["MEDGEN:864147", "OMIM:616260", "UMLS:C4015710"]}
{"category": ["biolink:Disease"], "description": "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.", "id": "MONDO:0014555", "name": "Peeling skin syndrome type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSS type A", "generalised deciduous skin type A", "generalised peeling skin syndrome type A", "generalized deciduous skin type A", "generalized peeling skin syndrome type A", "non-inflammatory generalised peeling skin syndrome type A.", "non-inflammatory generalized peeling skin syndrome type A.", "non-inflammatory peeling skin syndrome type A", "peeling skin syndrome type 3"], "xref": ["DOID:0070522", "GARD:0017258", "MEDGEN:864166", "OMIM:616265", "Orphanet:263548", "UMLS:C4015729"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.", "id": "MONDO:0014556", "name": "Congenital contractures of the limbs and face, hypotonia, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLIFAHDD syndrome", "congenital contractures of the limbs and face, hypotonia, and developmental delay", "congenital limbs-face contractures-hypotonia-developmental delay syndrome"], "xref": ["DOID:0081048", "EFO:1001868", "GARD:0016075", "MEDGEN:907234", "OMIM:616266", "Orphanet:562528", "UMLS:C4225398"]}
{"category": ["biolink:Disease"], "description": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.", "id": "MONDO:0014557", "name": "Ataxia - oculomotor apraxia type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AOA4", "PNKP oculomotor apraxia or related oculomotor disease", "ataxia - oculomotor apraxia type 4", "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP"], "xref": ["DOID:0081383", "GARD:0013111", "MEDGEN:902323", "OMIM:616267", "Orphanet:459033", "UMLS:C4225397"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.", "id": "MONDO:0014558", "name": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arboleda-Tham syndrome", "KAT6A Syndrome", "MRD32", "autosomal dominant intellectual disability 32", "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "intellectual disability, autosomal dominant type 32", "mental retardation, autosomal dominant type 32"], "xref": ["DOID:0070062", "GARD:0017797", "MEDGEN:903767", "NORD:1954", "OMIM:616268", "Orphanet:457193", "UMLS:C4225396"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014559", "name": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive type 48", "mental retardation, autosomal recessive type 48"], "xref": ["DOID:0081212", "GARD:0017798", "MEDGEN:895952", "OMIM:616269", "Orphanet:457212", "UMLS:C4225395"]}
{"category": ["biolink:Disease"], "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.", "id": "MONDO:0014560", "name": "Amelogenesis imperfecta type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1F", "AMBN amelogenesis imperfecta", "amelogenesis imperfecta caused by mutation in AMBN"], "xref": ["DOID:0110065", "GARD:0016076", "MEDGEN:898597", "OMIM:616270", "UMLS:C4225394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014561", "name": "3-methylglutaconic aciduria, type viib", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria type 7", "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia", "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome", "CLPB 3-methylglutaconic aciduria", "MEGCANN", "MGA7", "MGCA7"], "xref": ["DOID:0081134", "DOID:0110003", "GARD:0017767", "MEDGEN:1810214", "OMIM:616271", "Orphanet:445038", "SCTID:764860006", "UMLS:C5676893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014562", "name": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COQ4-related neonatal encephalomyopathy", "coenzyme Q10 deficiency, primary, type 7"], "xref": ["DOID:0070244", "GARD:0017796", "MEDGEN:1799985", "OMIM:616276", "Orphanet:457185", "UMLS:C5568562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014563", "name": "Mitochondrial short-chain enoyl-coa hydratase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"], "xref": ["DOID:0070540", "GARD:0013019", "MEDGEN:902729", "OMIM:616277", "Orphanet:653880", "UMLS:C4225391"]}
{"category": ["biolink:Disease"], "description": "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.", "id": "MONDO:0014564", "name": "Congenital bile acid synthesis defect 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ABCD3 congenital bile acid synthesis defect", "CBAS5", "bile acid synthesis defect, congenital, type 5", "congenital bile acid synthesis defect caused by mutation in ABCD3", "congenital bile acid synthesis defect type 5"], "xref": ["DOID:0111066", "GARD:0025002", "MEDGEN:904751", "OMIM:616278", "UMLS:C4225390"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.", "id": "MONDO:0014565", "name": "Cataract 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT43", "UNC45B early-onset non-syndromic cataract", "cataract 43", "cataract type 43", "early-onset non-syndromic cataract caused by mutation in UNC45B"], "xref": ["DOID:0110259", "GARD:0025003", "MEDGEN:901691", "OMIM:616279", "UMLS:C4225389"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.", "id": "MONDO:0014566", "name": "Charcot-marie-tooth disease axonal type 2u", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2U", "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS", "MARS Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation", "autosomal dominant Charcot-Marie-Tooth disease type 2U"], "xref": ["DOID:0110173", "GARD:0017638", "MEDGEN:906504", "OMIM:616280", "Orphanet:397735", "SCTID:765046002", "UMLS:C4084821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014567", "name": "Glutamate pyruvate transaminase 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GPT2 Deficiency", "GPT2 deficiency", "glutamate pyruvate transaminase 2 deficiency", "mental retardation, autosomal recessive 49", "mental retardation, autosomal recessive type 49", "neurodevelopmental disorder with microcephaly and spastic paraplegia", "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"], "xref": ["DOID:0070542", "GARD:0017853", "MEDGEN:906606", "NORD:91168", "OMIM:616281", "Orphanet:477673", "UMLS:C4225388"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.", "id": "MONDO:0014568", "name": "Hereditary spastic paraplegia 73", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPT1C autosomal dominant pure spastic paraplegia", "SPG73", "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C", "autosomal dominant spastic paraplegia type 73", "hereditary spastic paraplegia type 73"], "xref": ["DOID:0110818", "GARD:0017763", "MEDGEN:1800404", "OMIM:616282", "Orphanet:444099", "UMLS:C5568981"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.", "id": "MONDO:0014569", "name": "Lethal congenital contracture syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CNTNAP1 lethal congenital contracture syndrome", "lethal congenital contracture syndrome 7", "lethal congenital contracture syndrome caused by mutation in CNTNAP1", "lethal congenital contracture syndrome type 7"], "xref": ["DOID:0061263", "GARD:0018564", "MEDGEN:894160", "OMIM:616286", "UMLS:C4225386"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.", "id": "MONDO:0014570", "name": "Lethal congenital contracture syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADCY6 lethal congenital contracture syndrome", "lethal congenital contracture syndrome 8", "lethal congenital contracture syndrome caused by mutation in ADCY6", "lethal congenital contracture syndrome type 8"], "xref": ["DOID:0061264", "GARD:0018565", "MEDGEN:896058", "OMIM:616287", "UMLS:C4225385"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014571", "name": "Optic atrophy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACO2 autosomal recessive isolated optic atrophy", "autosomal recessive isolated optic atrophy caused by mutation in ACO2", "optic atrophy 9"], "xref": ["DOID:0111442", "GARD:0018199", "MEDGEN:898858", "OMIM:616289", "UMLS:C4225384"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss.", "id": "MONDO:0014572", "name": "Lichtenstein-knorr syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LIKNS", "Lichtenstein-Knorr syndrome", "SCAR19", "SLC9A1-related spinocerebellar ataxia syndrome", "autosomal recessive spinocerebellar ataxia type 19", "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome", "spinocerebellar ataxia, autosomal recessive 19"], "xref": ["DOID:0080065", "GARD:0017780", "MEDGEN:898996", "OMIM:616291", "Orphanet:448251", "UMLS:C4225383"]}
{"category": ["biolink:Disease"], "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.", "id": "MONDO:0014573", "name": "Cole-carpenter syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Cole-Carpenter syndrome 2", "Cole-Carpenter syndrome caused by mutation in SEC24D", "Cole-Carpenter syndrome type 2", "SEC24D Cole-Carpenter syndrome"], "xref": ["GARD:0016077", "MEDGEN:905199", "OMIM:616294", "UMLS:C4225382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014574", "name": "Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["plack syndrome"], "xref": ["DOID:0070526", "GARD:0017764", "MEDGEN:902464", "OMIM:616295", "Orphanet:444138", "UMLS:C4225381"]}
{"category": ["biolink:Disease"], "description": "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.", "id": "MONDO:0014575", "name": "Singleton-merten syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DDX58 singleton-Merten dysplasia", "singleton-Merten dysplasia caused by mutation in DDX58", "singleton-Merten syndrome 2", "singleton-Merten syndrome type 2"], "xref": ["GARD:0016078", "MEDGEN:907372", "OMIM:616298", "UMLS:C4225380"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014576", "name": "Lipoyl transferase 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012680", "MEDGEN:904073", "OMIM:616299", "Orphanet:401862", "UMLS:C4225379"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.", "id": "MONDO:0014577", "name": "Short-rib thoracic dysplasia 13 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRTD13", "short-rib thoracic dysplasia 13 with or without polydactyly"], "xref": ["DOID:0110093", "GARD:0016079", "MEDGEN:898712", "OMIM:616300", "UMLS:C4225378"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.", "id": "MONDO:0014578", "name": "Congenital myasthenic syndrome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS17", "LRP4 congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in LRP4", "congenital myasthenic syndrome type 17", "myasthenic syndrome, congenital, type 17"], "xref": ["DOID:0110674", "GARD:0016080", "MEDGEN:895078", "OMIM:616304", "UMLS:C4225377"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.", "id": "MONDO:0014579", "name": "Senior-loken syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Senior-Loken syndrome 8", "Senior-Loken syndrome caused by mutation in WDR19", "Senior-Loken syndrome type 8", "WDR19 Senior-Loken syndrome"], "xref": ["DOID:0061282", "GARD:0016081", "MEDGEN:905171", "OMIM:616307", "UMLS:C4225376"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.", "id": "MONDO:0014580", "name": "Intellectual disability, autosomal dominant 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DPP6 autosomal dominant non-syndromic intellectual disability", "MRD33", "autosomal dominant intellectual disability 33", "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6", "intellectual disability, autosomal dominant 33", "intellectual disability, autosomal dominant type 33", "mental retardation, autosomal dominant type 33"], "xref": ["DOID:0070063", "GARD:0016082", "MEDGEN:899389", "OMIM:616311", "UMLS:C4225375"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "id": "MONDO:0014581", "name": "Congenital myasthenic syndrome 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS2A", "congenital myasthenic syndrome type 2A"], "xref": ["DOID:0110681", "GARD:0009895", "MEDGEN:908185", "OMIM:616313", "UMLS:C4225374"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "id": "MONDO:0014582", "name": "Congenital myasthenic syndrome 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS2C", "congenital myasthenic syndrome type 2C"], "xref": ["DOID:0110680", "GARD:0016083", "MEDGEN:903254", "OMIM:616314", "UMLS:C4225373"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.", "id": "MONDO:0014583", "name": "Congenital myasthenic syndrome 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS3A", "congenital myasthenic syndrome type 3A"], "xref": ["DOID:0110666", "GARD:0016084", "MEDGEN:898378", "OMIM:616321", "UMLS:C4225372"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "id": "MONDO:0014584", "name": "Congenital myasthenic syndrome 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS3B", "congenital myasthenic syndrome type 3B"], "xref": ["DOID:0110665", "GARD:0016085", "MEDGEN:909404", "OMIM:616322", "UMLS:C4225371"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "id": "MONDO:0014585", "name": "Congenital myasthenic syndrome 3c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital myasthenic syndrome type 3C"], "xref": ["DOID:0110664", "GARD:0016086", "MEDGEN:903088", "OMIM:616323", "UMLS:C4225370"]}
{"category": ["biolink:Disease"], "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "id": "MONDO:0014586", "name": "Congenital myasthenic syndrome 4b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS4B", "congenital myasthenic syndrome type 4B"], "xref": ["DOID:0110677", "GARD:0016087", "MEDGEN:904424", "OMIM:616324", "UMLS:C4225369"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.", "id": "MONDO:0014587", "name": "Congenital myasthenic syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS9", "MUSK congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in MUSK", "congenital myasthenic syndrome type 9"], "xref": ["DOID:0110670", "GARD:0016088", "MEDGEN:895641", "OMIM:616325", "UMLS:C4225368"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.", "id": "MONDO:0014588", "name": "Congenital myasthenic syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS11", "RAPSN congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in RAPSN", "congenital myasthenic syndrome type 11"], "xref": ["DOID:0110675", "GARD:0016089", "MEDGEN:902189", "MESH:C563831", "OMIM:616326", "UMLS:C4225367"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.", "id": "MONDO:0014589", "name": "Maturity-onset diabetes of the young type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNJ11 maturity-onset diabetes of the young (disease)", "MODY13", "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11"], "xref": ["DOID:0111110", "GARD:0016090", "MEDGEN:897640", "OMIM:616329", "UMLS:C4225365"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.", "id": "MONDO:0014590", "name": "Congenital myasthenic syndrome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS18", "SNAP25 congenital myasthenic syndrome", "SNAP25-DEE", "congenital myasthenic syndrome caused by mutation in SNAP25", "congenital myasthenic syndrome type 18", "myasthenic syndrome, congenital, 18", "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia", "myasthenic syndrome, congenital, type 18"], "xref": ["DOID:0110683", "GARD:0016091", "MEDGEN:906793", "OMIM:616330", "UMLS:C4225364"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.", "id": "MONDO:0014591", "name": "Autosomal dominant robinow syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DRS2", "DVL1 autosomal dominant Robinow syndrome", "Robinow syndrome, autosomal dominant type 2", "autosomal dominant Robinow syndrome caused by mutation in DVL1", "autosomal dominant Robinow syndrome type 2"], "xref": ["DOID:0060765", "GARD:0018548", "MEDGEN:897039", "OMIM:616331", "UMLS:C4225363"]}
{"category": ["biolink:Disease"], "description": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.", "id": "MONDO:0014592", "name": "Microcephaly and chorioretinopathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TUBGCP4 microcephaly and chorioretinopathy", "microcephaly and chorioretinopathy caused by mutation in TUBGCP4", "microcephaly and chorioretinopathy type 3", "microcephaly and chorioretinopathy, autosomal recessive, type 3"], "xref": ["DOID:0080107", "GARD:0018482", "MEDGEN:902924", "OMIM:616335", "UMLS:C4225362"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.", "id": "MONDO:0014593", "name": "Developmental and epileptic encephalopathy, 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AARS early infantile epileptic encephalopathy", "DEE29", "EIEE29", "developmental and epileptic encephalopathy 29", "early infantile epileptic encephalopathy caused by mutation in AARS", "epileptic encephalopathy, early infantile, 29", "epileptic encephalopathy, early infantile, type 29"], "xref": ["DOID:0080451", "GARD:0016092", "MEDGEN:908570", "OMIM:616339", "UMLS:C4225361"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.", "id": "MONDO:0014594", "name": "Autosomal dominant nonsyndromic hearing loss 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110588", "GARD:0018141", "MEDGEN:900413", "OMIM:616340", "UMLS:C4084712"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.", "id": "MONDO:0014595", "name": "Developmental and epileptic encephalopathy, 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE30", "EIEE30", "SIK1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 30", "early infantile epileptic encephalopathy caused by mutation in SIK1", "epileptic encephalopathy, early infantile, 30", "epileptic encephalopathy, early infantile, type 30"], "xref": ["DOID:0080465", "GARD:0016093", "MEDGEN:898954", "OMIM:616341", "UMLS:C4225360"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014596", "name": "Lissencephaly 7 with cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lissencephaly 7 with cerebellar hypoplasia"], "xref": ["DOID:0112231", "GARD:0025004", "MEDGEN:895680", "OMIM:616342", "UMLS:C4225359"]}
{"category": ["biolink:Disease"], "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.", "id": "MONDO:0014597", "name": "Immunodeficiency 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IRF7 primary immunodeficiency disease", "immunodeficiency 39", "immunodeficiency type 39", "predisposition to severe viral infection due to IRF7 deficiency", "primary immunodeficiency disease caused by mutation in IRF7"], "xref": ["DOID:0111969", "GARD:0025005", "ICD10CM:D84.8", "MEDGEN:904167", "OMIM:616345", "Orphanet:574918", "SCTID:1269234000", "UMLS:C4225358"]}
{"category": ["biolink:Disease"], "description": "Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene.", "id": "MONDO:0014598", "name": "Developmental and epileptic encephalopathy, 31a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE31A", "DNM1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 31A, autosomal dominant"], "xref": ["DOID:0080437", "GARD:0016094", "MEDGEN:894942", "OMIM:616346", "UMLS:C4225357"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.", "id": "MONDO:0014599", "name": "Intellectual disability, autosomal dominant 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COL4A3BP autosomal dominant non-syndromic intellectual disability", "MRD34", "autosomal dominant intellectual disability 34", "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP", "intellectual developmental disorder, autosomal dominant 34", "intellectual disability, autosomal dominant 34", "intellectual disability, autosomal dominant type 34", "mental retardation, autosomal dominant type 34"], "xref": ["DOID:0070064", "GARD:0025006", "MEDGEN:907277", "OMIM:616351", "UMLS:C4225156"]}
{"category": ["biolink:Disease"], "description": "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.", "id": "MONDO:0014600", "name": "Dyskeratosis congenita, autosomal recessive 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB6", "PARN dyskeratosis congenita", "dyskeratosis congenita caused by mutation in PARN", "dyskeratosis congenita, autosomal recessive 6", "dyskeratosis congenita, autosomal recessive type 6"], "xref": ["DOID:0070024", "GARD:0016095", "MEDGEN:905452", "NCIT:C176929", "OMIM:616353", "UMLS:C4225356"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.", "id": "MONDO:0014601", "name": "Autosomal recessive spinocerebellar ataxia 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR20", "SNX14 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in SNX14", "autosomal recessive spinocerebellar ataxia type 20", "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome", "spinocerebellar ataxia, autosomal recessive type 20"], "xref": ["DOID:0080066", "GARD:0017636", "MEDGEN:1684324", "OMIM:616354", "Orphanet:397709", "UMLS:C5190595"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.", "id": "MONDO:0014602", "name": "Houge-janssens syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRD35", "autosomal dominant intellectual disability 35", "intellectual disability, autosomal dominant type 35", "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 35"], "xref": ["DOID:0070065", "GARD:0017802", "MEDGEN:1830493", "OMIM:616355", "Orphanet:457279", "UMLS:C5779996"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.", "id": "MONDO:0014603", "name": "Autosomal dominant nonsyndromic hearing loss 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant nonsyndromic hearing loss 40"], "xref": ["DOID:0110566", "GARD:0018142", "MEDGEN:896665", "OMIM:616357", "UMLS:C4084708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014604", "name": "Parkinson disease 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PARK21", "Parkinson disease 21", "Parkinson disease type 21"], "xref": ["DOID:0111251", "GARD:0018480", "MEDGEN:903105", "OMIM:616361", "UMLS:C4225353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014605", "name": "Houge-janssens syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRD36", "autosomal dominant intellectual disability 36", "intellectual disability, autosomal dominant type 36", "mental retardation, autosomal dominant type 36", "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"], "xref": ["DOID:0070066", "GARD:0017803", "MEDGEN:899880", "OMIM:616362", "Orphanet:457284", "UMLS:C4225352"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).", "id": "MONDO:0014606", "name": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD37", "WHSUS", "autosomal dominant intellectual disability 37", "intellectual disability, autosomal dominant type 37", "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 37"], "xref": ["DOID:0070067", "GARD:0013774", "MEDGEN:897984", "OMIM:616364", "Orphanet:468678", "UMLS:C4225351"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.", "id": "MONDO:0014607", "name": "Developmental and epileptic encephalopathy, 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE32", "EIEE32", "KCNA2 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 32", "early infantile epileptic encephalopathy caused by mutation in KCNA2", "epileptic encephalopathy, early infantile, 32", "epileptic encephalopathy, early infantile, type 32"], "xref": ["DOID:0080416", "GARD:0016096", "MEDGEN:909501", "OMIM:616366", "UMLS:C4225350"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.", "id": "MONDO:0014608", "name": "Mandibulofacial dysostosis with alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MFDA", "mandibulofacial dysostosis with alopecia"], "xref": ["DOID:0060365", "GARD:0017758", "MEDGEN:898794", "OMIM:616367", "Orphanet:443995", "UMLS:C4225349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014609", "name": "Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHOPS syndrome"], "xref": ["GARD:0012845", "MEDGEN:894554", "OMIM:616368", "Orphanet:444077", "SCTID:764455002", "UMLS:C4085597"]}
{"category": ["biolink:Disease"], "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.", "id": "MONDO:0014611", "name": "Multiple mitochondrial dysfunctions syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ISCA2 fatal multiple mitochondrial dysfunctions syndrome", "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2", "multiple mitochondrial dysfunctions syndrome 4", "multiple mitochondrial dysfunctions syndrome type 4"], "xref": ["DOID:0080136", "GARD:0017809", "MEDGEN:899010", "OMIM:616370", "Orphanet:457406", "UMLS:C4225348"]}
{"category": ["biolink:Disease"], "description": "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.", "id": "MONDO:0014612", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related", "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4"], "xref": ["GARD:0016097", "MEDGEN:903928", "OMIM:616371", "UMLS:C4225347"]}
{"category": ["biolink:Disease"], "description": "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.", "id": "MONDO:0014613", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related", "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3"], "xref": ["GARD:0016098", "MEDGEN:901644", "OMIM:616373", "UMLS:C4225346"]}
{"category": ["biolink:Disease"], "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.", "id": "MONDO:0014614", "name": "Congenital stationary night blindness 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1G", "congenital stationary night blindness type 1G"], "xref": ["DOID:0110714", "GARD:0016099", "MEDGEN:906532", "OMIM:616389", "UMLS:C4225345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014615", "name": "Trichothiodystrophy 2, photosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["trichothiodystrophy 2, photosensitive"], "xref": ["DOID:0111869", "GARD:0016100", "MEDGEN:905904", "NCIT:C173103", "OMIM:616390", "UMLS:C4225344"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.", "id": "MONDO:0014617", "name": "Intellectual disability, autosomal dominant 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EEF1A2 autosomal dominant non-syndromic intellectual disability", "MRD38", "PRELDS", "autosomal dominant intellectual disability 38", "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2", "intellectual disability, autosomal dominant 38", "intellectual disability, autosomal dominant type 38", "mental retardation, autosomal dominant type 38", "psychomotor retardation, epilepsy, and language disability syndrome"], "xref": ["DOID:0070068", "GARD:0016469", "MEDGEN:895359", "OMIM:616393", "UMLS:C4225343"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.", "id": "MONDO:0014618", "name": "Retinitis pigmentosa 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFT172 retinitis pigmentosa", "RP71", "retinitis pigmentosa 71", "retinitis pigmentosa caused by mutation in IFT172", "retinitis pigmentosa type 71"], "xref": ["DOID:0110363", "GARD:0016101", "MEDGEN:897209", "OMIM:616394", "UMLS:C4225342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014619", "name": "Trichothiodystrophy 3, photosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["trichothiodystrophy 3, photosensitive"], "xref": ["DOID:0111871", "GARD:0016102", "MEDGEN:865608", "NCIT:C173099", "OMIM:616395", "UMLS:C4017171"]}
{"category": ["biolink:Disease"], "description": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.", "id": "MONDO:0014620", "name": "Myoclonic dystonia 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["KCTD17 myoclonus-dystonia syndrome", "myoclonic dystonia type 26", "myoclonus-dystonia syndrome caused by mutation in KCTD17"], "xref": ["DOID:0090036", "GARD:0016103", "MEDGEN:904244", "OMIM:616398", "UMLS:C4225341"]}
{"category": ["biolink:Disease"], "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.", "id": "MONDO:0014621", "name": "Brugada syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRGDA9", "Brugada syndrome 9", "Brugada syndrome caused by mutation in KCND3", "Brugada syndrome type 9", "KCND3 Brugada syndrome"], "xref": ["DOID:0110226", "GARD:0016104", "MEDGEN:903155", "OMIM:616399", "UMLS:C4225340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014622", "name": "Isolated focal non-epidermolytic palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["palmoplantar keratoderma, nonepidermolytic, focal type 2"], "xref": ["DOID:0111708", "DOID:0111711", "GARD:0017781", "MEDGEN:895056", "OMIM:616400", "Orphanet:448264", "UMLS:C4225339"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.", "id": "MONDO:0014623", "name": "Microcephaly 14, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SASS6 autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in SASS6", "microcephaly 14, primary, autosomal recessive"], "xref": ["DOID:0070279", "GARD:0016105", "MEDGEN:906798", "OMIM:616402", "UMLS:C4225338"]}
{"category": ["biolink:Disease"], "description": "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.", "id": "MONDO:0014624", "name": "Brown syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BRWNS", "Brown syndrome", "Brown tendon sheath syndrome", "Brown's (tendon) sheath syndrome", "Brown's sheath syndrome", "Brown's tendon sheath syndrome", "superior oblique tendon sheath syndrome", "tendon sheath adherence, Superior oblique"], "xref": ["DOID:10235", "ICD10CM:H50.61", "ICD9:378.61", "MEDGEN:102332", "OMIM:616407", "SCTID:35929003", "UMLS:C0155339"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.", "id": "MONDO:0014625", "name": "Developmental and epileptic encephalopathy, 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE33", "EEF1A2 early infantile epileptic encephalopathy", "EEF1A2-Related Neurodevelopmental Disorder", "EEF1A2-related neurodevelopmental disorder", "EIEE33", "developmental and epileptic encephalopathy 33", "early infantile epileptic encephalopathy caused by mutation in EEF1A2", "epileptic encephalopathy, early infantile, 33", "epileptic encephalopathy, early infantile, type 33"], "xref": ["DOID:0080463", "GARD:0016106", "MEDGEN:897930", "NORD:111336", "OMIM:616409", "UMLS:C4225337"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.", "id": "MONDO:0014626", "name": "Spinocerebellar ataxia type 41", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCA41", "spinocerebellar ataxia type 41"], "xref": ["DOID:0111744", "GARD:0017810", "MEDGEN:908281", "OMIM:616410", "Orphanet:458798", "UMLS:C4225158"]}
{"category": ["biolink:Disease"], "description": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.", "id": "MONDO:0014627", "name": "Dystonia 27", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COL6A3 dystonic disorder", "dystonia 27", "dystonia type 27", "dystonic disorder caused by mutation in COL6A3"], "xref": ["DOID:0090050", "GARD:0017819", "MEDGEN:907580", "OMIM:616411", "Orphanet:464440", "UMLS:C4225336"]}
{"category": ["biolink:Disease"], "description": "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.", "id": "MONDO:0014628", "name": "Basal ganglia calcification, idiopathic, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["XPR1 bilateral striopallidodentate calcinosis", "basal ganglia calcification, idiopathic, 6", "basal ganglia calcification, idiopathic, type 6", "bilateral striopallidodentate calcinosis caused by mutation in XPR1"], "xref": ["GARD:0016107", "MEDGEN:901404", "OMIM:616413", "UMLS:C4225335"]}
{"category": ["biolink:Disease"], "description": "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.", "id": "MONDO:0014629", "name": "Autoimmune interstitial lung disease-arthritis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COPA Syndrome", "autoinflammation and autoimmunity, systemic, with immune dysregulation"], "xref": ["DOID:0081242", "GARD:0017762", "NORD:1973", "OMIMPS:616414", "Orphanet:444092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014630", "name": "Familial adenomatous polyposis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAP3", "NTHL1-related AFAP", "NTHL1-related attenuated FAP", "NTHL1-related attenuated familial adenomatous polyposis", "familial adenomatous polyposis 3", "familial adenomatous polyposis type 3"], "xref": ["DOID:0080411", "GARD:0017790", "MEDGEN:902388", "OMIM:616415", "Orphanet:454840", "UMLS:C4225157"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014631", "name": "Hypomagnesemia, seizures, and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypomagnesemia, seizures, and intellectual disability", "hypomagnesemia, seizures, and mental retardation"], "xref": ["GARD:0025007", "OMIMPS:616418"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.", "id": "MONDO:0014632", "name": "Hypomyelinating leukodystrophy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLD10", "PYCR2 leukodystrophy", "PYCR2-related microcephaly-progressive leukoencephalopathy", "hypomyelinating leukodystrophy type 10", "leukodystrophy caused by mutation in PYCR2", "leukodystrophy, hypomyelinating, 10", "leukodystrophy, hypomyelinating, type 10"], "xref": ["DOID:0060788", "GARD:0025008", "MEDGEN:904191", "OMIM:616420", "Orphanet:481152", "UMLS:C4225332"]}
{"category": ["biolink:Disease"], "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "id": "MONDO:0014633", "name": "Epilepsy with myoclonic atonic seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Doose syndrome", "EMAS", "EMAtS", "MAE", "Myoclonic Atonic Epilepsy", "epilepsy with myoclonic atonic seizures", "epilepsy with myoclonic-astatic seizures", "epilepsy with myoclonic-atonic seizures", "myoclonic atonic epilepsy", "myoclonic-astatic epilepsy in early childhood", "myoclonic-atonic epilepsy"], "xref": ["DOID:0060475", "GARD:0016108", "ICD9:345.10", "MEDGEN:98284", "OMIM:616421", "Orphanet:1942", "SCTID:230421008", "UMLS:C0393702", "icd11.foundation:951920505"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014634", "name": "46,xy sex reversal 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY Sex reversal type 10", "46,XY sex reversal 10", "46XY sex reversal 10"], "xref": ["DOID:0111775", "GARD:0016109", "MEDGEN:897538", "OMIM:616425", "UMLS:C4225331"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.", "id": "MONDO:0014635", "name": "Microphthalmia, isolated, with coloboma 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RBP4 microphthalmia, isolated, with coloboma", "microphthalmia, isolated, with coloboma 10", "microphthalmia, isolated, with coloboma caused by mutation in RBP4", "microphthalmia, isolated, with coloboma type 10"], "xref": ["GARD:0016110", "MEDGEN:909133", "OMIM:616428", "UMLS:C4225330"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.", "id": "MONDO:0014636", "name": "Combined oxidative phosphorylation defect type 25", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD25", "MARS2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in MARS2", "combined oxidative phosphorylation deficiency type 25"], "xref": ["DOID:0111468", "GARD:0017775", "MEDGEN:1799165", "OMIM:616430", "Orphanet:447954", "UMLS:C5567742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014637", "name": "Dock2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency type 40"], "xref": ["DOID:0111951", "GARD:0012653", "MEDGEN:901370", "OMIM:616433", "Orphanet:447737", "UMLS:C4225328"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", "id": "MONDO:0014638", "name": "Fanconi anemia complementation group t", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCT", "Fanconi Anemia, complementation group type T", "Fanconi anaemia caused by mutation in UBE2T", "Fanconi anaemia complementation group type T", "Fanconi anemia caused by mutation in UBE2T", "Fanconi anemia complementation group type T", "UBE2T Fanconi anaemia", "UBE2T Fanconi anemia"], "xref": ["DOID:0111081", "GARD:0016111", "MEDGEN:896157", "OMIM:616435", "UMLS:C4084840"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.", "id": "MONDO:0014639", "name": "Familial temporal lobe epilepsy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["ETL7", "epilepsy, familial temporal lobe, type 7", "familial temporal lobe epilepsy type 7"], "xref": ["DOID:0060751", "GARD:0016112", "MEDGEN:907609", "OMIM:616436", "UMLS:C4225327"]}
{"category": ["biolink:Disease"], "description": "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.", "id": "MONDO:0014640", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTDALS3", "frontotemporal dementia and/or amyotrophic lateral sclerosis 3", "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3"], "xref": ["DOID:0110068", "GARD:0016113", "MEDGEN:897127", "OMIM:616437", "UMLS:C4225326"]}
{"category": ["biolink:Disease"], "description": "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.", "id": "MONDO:0014641", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FTDALS4", "frontotemporal dementia and/or amyotrophic lateral sclerosis 4", "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4"], "xref": ["DOID:0110069", "GARD:0018398", "MEDGEN:902979", "OMIM:616439", "UMLS:C4225325"]}
{"category": ["biolink:Disease"], "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.", "id": "MONDO:0014642", "name": "Candidiasis, familial, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IL17RC chronic mucocutaneous candidiasis (disease)", "candidiasis, familial, 9", "candidiasis, familial, type 9", "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC"], "xref": ["GARD:0016114", "MEDGEN:906897", "OMIM:616445", "UMLS:C4225324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014643", "name": "Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Basel-Vanagait-Smirin-Yosef syndrome"], "xref": ["GARD:0017821", "MEDGEN:897292", "OMIM:616449", "Orphanet:464738", "UMLS:C4225323"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.", "id": "MONDO:0014644", "name": "Hereditary spastic paraplegia 74", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IBA57 hereditary spastic paraplegia", "SPG74", "hereditary spastic paraplegia caused by mutation in IBA57", "hereditary spastic paraplegia type 74"], "xref": ["DOID:0110819", "GARD:0017842", "MEDGEN:1800260", "OMIM:616451", "Orphanet:468661", "UMLS:C5568837"]}
{"category": ["biolink:Disease"], "description": "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/Nl) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.", "id": "MONDO:0014645", "name": "Benta disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B-cell expansion with NF-kB and T-cell anergy disease"], "xref": ["GARD:0013339", "MEDGEN:1641265", "OMIM:616452", "Orphanet:464336", "UMLS:C4551967"]}
{"category": ["biolink:Disease"], "description": "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.", "id": "MONDO:0014646", "name": "Zimmermann-laband syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ATP6V1B2 Zimmermann-Laband syndrome", "Zimmermann-Laband syndrome 2", "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2", "Zimmermann-Laband syndrome type 2"], "xref": ["GARD:0016115", "MEDGEN:897567", "OMIM:616455", "UMLS:C4225321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014647", "name": "Developmental and epileptic encephalopathy, 50", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAD-CDG", "CDG syndrome type Iz", "CDG-Iz", "CDG1Z", "DEE50", "EIEE50", "carbohydrate deficient glycoprotein syndrome type Iz", "congenital disorder of glycosylation type 1z", "developmental and epileptic encephalopathy 50", "epileptic encephalopathy, early infantile, 50"], "xref": ["DOID:0080419", "GARD:0013621", "MEDGEN:904125", "OMIM:616457", "Orphanet:448010", "UMLS:C4225320"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014648", "name": "Al-raqad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Al-Raqad syndrome"], "xref": ["GARD:0025009", "MEDGEN:897610", "OMIM:616459", "UMLS:C4085595"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.", "id": "MONDO:0014649", "name": "Intellectual disability, autosomal recessive 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EDC3 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3", "intellectual developmental disorder, autosomal recessive 50", "intellectual disability, autosomal recessive 50", "intellectual disability, autosomal recessive type 50", "mental retardation, autosomal recessive type 50"], "xref": ["DOID:0081213", "GARD:0022570", "MEDGEN:906893", "OMIM:616460", "UMLS:C4225319"]}
{"category": ["biolink:Disease"], "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.", "id": "MONDO:0014650", "name": "Familial temporal lobe epilepsy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETL8", "epilepsy, familial temporal lobe, type 8", "familial temporal lobe epilepsy type 8"], "xref": ["DOID:0060754", "GARD:0016116", "MEDGEN:909158", "OMIM:616461", "UMLS:C4225318"]}
{"category": ["biolink:Disease"], "description": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.", "id": "MONDO:0014651", "name": "Acrofacial dysostosis cincinnati type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POLR1A acrofacial dysostosis", "acrofacial dysostosis caused by mutation in POLR1A"], "xref": ["DOID:0060353", "GARD:0016117", "MEDGEN:903483", "OMIM:616462", "UMLS:C4225317"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.", "id": "MONDO:0014652", "name": "Exudative vitreoretinopathy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZNF408 exudative vitreoretinopathy", "exudative vitreoretinopathy 6", "exudative vitreoretinopathy caused by mutation in ZNF408", "exudative vitreoretinopathy type 6"], "xref": ["DOID:0111410", "GARD:0016118", "MEDGEN:902559", "OMIM:616468", "UMLS:C4225316"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.", "id": "MONDO:0014653", "name": "Retinitis pigmentosa 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP72", "ZNF408 retinitis pigmentosa", "retinitis pigmentosa 72", "retinitis pigmentosa caused by mutation in ZNF408", "retinitis pigmentosa type 72"], "xref": ["DOID:0110395", "GARD:0016119", "MEDGEN:895867", "OMIM:616469", "UMLS:C4225315"]}
{"category": ["biolink:Disease"], "description": "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.", "id": "MONDO:0014654", "name": "Ullrich congenital muscular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["COL12A1 Ullrich congenital muscular dystrophy", "Ullrich congenital muscular dystrophy 2", "Ullrich congenital muscular dystrophy caused by mutation in COL12A1", "Ullrich congenital muscular dystrophy type 2"], "xref": ["DOID:0060948", "GARD:0016120", "MEDGEN:899150", "OMIM:616470", "UMLS:C4225314"]}
{"category": ["biolink:Disease"], "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.", "id": "MONDO:0014656", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions", "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2"], "xref": ["DOID:0111515", "GARD:0018450", "MEDGEN:901897", "OMIM:616479", "UMLS:C4225312"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.", "id": "MONDO:0014657", "name": "Primary ciliary dyskinesia 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD32", "RSPH3 primary ciliary dyskinesia", "ciliary dyskinesia, primary, type 32", "primary ciliary dyskinesia caused by mutation in RSPH3", "primary ciliary dyskinesia type 32"], "xref": ["DOID:0110603", "GARD:0016122", "MEDGEN:896106", "OMIM:616481", "UMLS:C4225311"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).", "id": "MONDO:0014658", "name": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SADDAN", "SADDAN dysplasia"], "xref": ["DOID:0111158", "GARD:0009443", "ICD9:757.39", "ICD9:783.40", "MEDGEN:393098", "OMIM:616482", "Orphanet:85165", "PMID:10053006", "SCTID:699870002", "UMLS:C2674173"]}
{"category": ["biolink:Disease"], "description": "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.", "id": "MONDO:0014659", "name": "Infantile liver failure syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ILFS2", "NBAS infantile liver failure", "infantile liver failure caused by mutation in NBAS", "infantile liver failure syndrome 2", "infantile liver failure syndrome type 2"], "xref": ["GARD:0013113", "MEDGEN:815981", "NCIT:C158135", "OMIM:616483", "UMLS:C3809651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014660", "name": "Microcephaly 15, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microcephaly 15, primary, autosomal recessive", "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities"], "xref": ["DOID:0070277", "GARD:0016123", "MEDGEN:895496", "OMIM:616486", "UMLS:C4225310"]}
{"category": ["biolink:Disease"], "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized skin blistering associated with severe nail dystrophy.", "id": "MONDO:0014661", "name": "Epidermolysis bullosa simplex with nail dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive", "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive", "epidermolysis bullosa simplex with nail dystrophy"], "xref": ["GARD:0025010", "MEDGEN:906476", "OMIM:616487", "UMLS:C4225309"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.", "id": "MONDO:0014662", "name": "Congenital insensitivity to pain-hypohidrosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN8", "hereditary sensory and autonomic neuropathy type 8", "hereditary sensory and autonomic neuropathy type VIII"], "xref": ["DOID:0070153", "GARD:0017866", "MEDGEN:894363", "OMIM:616488", "Orphanet:478664", "UMLS:C4225308"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014663", "name": "Silver-russell syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRS3", "growth restriction, severe, with distinctive facies"], "xref": ["GARD:0018463", "MEDGEN:894912", "OMIM:616489", "UMLS:C4225307"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.", "id": "MONDO:0014664", "name": "Joubert syndrome 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS23", "Joubert syndrome 23", "Joubert syndrome caused by mutation in KIAA0586", "Joubert syndrome type 23", "KIAA0586 Joubert syndrome"], "xref": ["DOID:0110992", "GARD:0016124", "MEDGEN:900119", "OMIM:616490", "UMLS:C4084822"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.", "id": "MONDO:0014665", "name": "Charcot-marie-tooth disease axonal type 2v", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2V", "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "NAGLU Charcot-Marie-Tooth disease", "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation", "autosomal dominant Charcot-Marie-Tooth disease type 2V", "hereditary adult-onset painful axonal polyneuropathy"], "xref": ["DOID:0110178", "GARD:0017777", "MEDGEN:1800473", "OMIM:616491", "Orphanet:447964", "UMLS:C5569050"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.", "id": "MONDO:0014666", "name": "Hypomyelinating leukodystrophy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HLD11", "POLR1C leukodystrophy", "hypomyelinating leukodystrophy type 11", "leukodystrophy caused by mutation in POLR1C", "leukodystrophy, hypomyelinating, type 11"], "xref": ["DOID:0060792", "GARD:0018088", "MEDGEN:897960", "OMIM:616494", "UMLS:C4225305"]}
{"category": ["biolink:Disease"], "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.", "id": "MONDO:0014667", "name": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COA5 fatal infantile encephalocardiomyopathy", "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "fatal infantile encephalocardiomyopathy caused by mutation in COA5", "mitochondrial complex IV, deficiency, nuclear type 9"], "xref": ["DOID:0080359", "GARD:0018572", "MEDGEN:903495", "OMIM:616500", "UMLS:C4225154"]}
{"category": ["biolink:Disease"], "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.", "id": "MONDO:0014668", "name": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COA6 fatal infantile encephalocardiomyopathy", "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4", "fatal infantile encephalocardiomyopathy caused by mutation in COA6", "mitochondrial complex IV deficiency, nuclear type 13"], "xref": ["DOID:0080360", "GARD:0018573", "MEDGEN:905398", "OMIM:616501", "UMLS:C4225304"]}
{"category": ["biolink:Disease"], "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.", "id": "MONDO:0014669", "name": "Cone-rod dystrophy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DRAM2 cone-rod dystrophy", "cone-rod dystrophy 21", "cone-rod dystrophy caused by mutation in DRAM2", "cone-rod dystrophy type 21"], "xref": ["DOID:0081447", "GARD:0016125", "MEDGEN:891534", "OMIM:616502", "UMLS:C4049066"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.", "id": "MONDO:0014670", "name": "Lethal congenital contracture syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADGRG6 lethal congenital contracture syndrome", "lethal congenital contracture syndrome 9", "lethal congenital contracture syndrome caused by mutation in ADGRG6", "lethal congenital contracture syndrome type 9"], "xref": ["DOID:0061265", "GARD:0025011", "MEDGEN:903881", "OMIM:616503", "UMLS:C4225303"]}
{"category": ["biolink:Disease"], "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.", "id": "MONDO:0014671", "name": "Neuropathy, hereditary motor and sensory, type 6b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT6B", "Charcot-Marie-Tooth disease, type 6B", "HMSN 6B", "HMSN6B", "SLC25A46 hereditary motor and sensory neuropathy type 6", "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46", "neuropathy, hereditary motor and sensory, type 6B", "neuropathy, hereditary motor and sensory, type VIB"], "xref": ["GARD:0018092", "MEDGEN:895482", "OMIM:616505", "UMLS:C4225302"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.", "id": "MONDO:0014672", "name": "Osteogenesis imperfecta type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OI17", "SPARC osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SPARC"], "xref": ["DOID:0110338", "GARD:0016126", "MEDGEN:903845", "OMIM:616507", "UMLS:C4225301"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.", "id": "MONDO:0014673", "name": "Cataract 44", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT44", "LSS early-onset non-syndromic cataract", "cataract 44", "cataract type 44", "early-onset non-syndromic cataract caused by mutation in LSS"], "xref": ["DOID:0110267", "GARD:0016127", "MEDGEN:907487", "OMIM:616509", "UMLS:C4225300"]}
{"category": ["biolink:Disease"], "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.", "id": "MONDO:0014674", "name": "Maturity-onset diabetes of the young type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["APPL1 maturity-onset diabetes of the young (disease)", "MODY14", "maturity-onset diabetes of the young (disease) caused by mutation in APPL1"], "xref": ["DOID:0111111", "GARD:0016128", "MEDGEN:908119", "OMIM:616511", "UMLS:C4225299"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.", "id": "MONDO:0014675", "name": "Autosomal recessive nonsyndromic hearing loss 104", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110465", "GARD:0022654", "MEDGEN:899775", "OMIM:616515", "UMLS:C4225298"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.", "id": "MONDO:0014676", "name": "Emery-dreifuss muscular dystrophy 3, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA"], "xref": ["DOID:0070248", "GARD:0018209", "MEDGEN:413212", "MESH:C567633", "OMIM:616516", "Orphanet:98855", "UMLS:C2750035"]}
{"category": ["biolink:Disease"], "description": "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.", "id": "MONDO:0014677", "name": "Achromatopsia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACHM7", "ATF6 achromatopsia", "achromatopsia 7", "achromatopsia caused by mutation in ATF6", "achromatopsia type 7"], "xref": ["DOID:0110009", "GARD:0016129", "MEDGEN:904646", "OMIM:616517", "UMLS:C4225297"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.", "id": "MONDO:0014678", "name": "Intellectual disability, autosomal dominant 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MRD39", "MYT1L autosomal dominant non-syndromic intellectual disability", "autosomal dominant intellectual disability 39", "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L", "intellectual developmental disorder, autosomal dominant 39", "intellectual disability, autosomal dominant 39", "intellectual disability, autosomal dominant type 39", "mental retardation, autosomal dominant type 39"], "xref": ["DOID:0070069", "GARD:0027861", "MEDGEN:909304", "OMIM:616521", "UMLS:C4225296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014679", "name": "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"], "xref": ["GARD:0016130", "MEDGEN:899982", "OMIM:616531", "UMLS:C4225295"]}
{"category": ["biolink:Disease"], "description": "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.", "id": "MONDO:0014681", "name": "Thyroid cancer, nonmedullary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["FOXE1 thyroid cancer, nonmedullary", "thyroid cancer, nonmedullary caused by mutation in FOXE1", "thyroid cancer, nonmedullary, 4", "thyroid cancer, nonmedullary, type 4"], "xref": ["GARD:0016132", "MEDGEN:907624", "OMIM:616534", "UMLS:C4225293"]}
{"category": ["biolink:Disease"], "description": "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.", "id": "MONDO:0014682", "name": "Thyroid cancer, nonmedullary, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["HABP2 thyroid cancer, nonmedullary", "thyroid cancer, nonmedullary caused by mutation in HABP2", "thyroid cancer, nonmedullary, 5", "thyroid cancer, nonmedullary, type 5"], "xref": ["GARD:0016133", "MEDGEN:895900", "OMIM:616535", "UMLS:C4225292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014683", "name": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111232", "GARD:0016134", "MEDGEN:902513", "OMIM:616538", "UMLS:C4225291"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.", "id": "MONDO:0014684", "name": "Combined oxidative phosphorylation defect type 26", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD26", "TRMT5 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency caused by mutation in TRMT5", "combined oxidative phosphorylation deficiency type 26"], "xref": ["DOID:0111490", "GARD:0017854", "MEDGEN:1799164", "OMIM:616539", "Orphanet:477684", "UMLS:C5567741"]}
{"category": ["biolink:Disease"], "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.", "id": "MONDO:0014685", "name": "Progressive myoclonic epilepsy type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EPM9", "LMNB2 progressive myoclonic epilepsy", "PME type 9", "epilepsy, progressive myoclonic, type 9", "progressive myoclonic epilepsy caused by mutation in LMNB2", "progressive myoclonic epilepsy due to LMNB2 deficiency", "progressive myoclonus epilepsy type 9"], "xref": ["DOID:0111450", "GARD:0017801", "MEDGEN:901242", "OMIM:616540", "Orphanet:457265", "UMLS:C4225289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014686", "name": "Short stature, microcephaly, and endocrine dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["short stature, microcephaly, and endocrine dysfunction"], "xref": ["GARD:0018483", "MEDGEN:895448", "OMIM:616541", "UMLS:C4225288"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.", "id": "MONDO:0014687", "name": "Retinitis pigmentosa 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HGSNAT retinitis pigmentosa", "RP73", "retinitis pigmentosa 73", "retinitis pigmentosa caused by mutation in HGSNAT", "retinitis pigmentosa type 73"], "xref": ["DOID:0110389", "GARD:0016135", "MEDGEN:907690", "OMIM:616544", "UMLS:C4225287"]}
{"category": ["biolink:Disease"], "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.", "id": "MONDO:0014688", "name": "Short-rib thoracic dysplasia 14 with polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SRTD14", "short-rib thoracic dysplasia 14 with polydactyly"], "xref": ["DOID:0110096", "GARD:0018467", "MEDGEN:901479", "OMIM:616546", "UMLS:C4225286"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014689", "name": "Klippel-feil anomaly-myopathy-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"], "xref": ["DOID:0080592", "GARD:0017778", "MEDGEN:894399", "OMIM:616549", "Orphanet:447974", "UMLS:C4225285"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.", "id": "MONDO:0014690", "name": "Dyskeratosis congenita, autosomal dominant 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCA6", "dyskeratosis congenita, autosomal dominant 6", "dyskeratosis congenita, autosomal dominant type 6"], "xref": ["DOID:0070023", "GARD:0016136", "MEDGEN:904824", "NCIT:C176924", "OMIM:616553", "UMLS:C4225284"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.", "id": "MONDO:0014691", "name": "Noonan syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS9", "Noonan syndrome 9", "Noonan syndrome caused by mutation in SOS2", "Noonan syndrome type 9", "SOS2 Noonan syndrome"], "xref": ["DOID:0060587", "GARD:0016137", "MEDGEN:896352", "NCIT:C176937", "OMIM:616559", "UMLS:C4225282"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.", "id": "MONDO:0014692", "name": "Retinitis pigmentosa 74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BBS2 retinitis pigmentosa", "RP74", "retinitis pigmentosa 74", "retinitis pigmentosa caused by mutation in BBS2", "retinitis pigmentosa type 74"], "xref": ["DOID:0110401", "GARD:0016138", "MEDGEN:906896", "OMIM:616562", "UMLS:C4225281"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.", "id": "MONDO:0014693", "name": "Noonan syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LZTR1 Noonan syndrome", "NS10", "Noonan syndrome 10", "Noonan syndrome caused by mutation in LZTR1", "Noonan syndrome type 10"], "xref": ["DOID:0060588", "GARD:0016139", "MEDGEN:902892", "NCIT:C176938", "OMIM:616564", "UMLS:C4225280"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.", "id": "MONDO:0014694", "name": "Spondylocostal dysostosis 6, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RIPPLY2 autosomal recessive spondylocostal dysostosis", "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2", "spondylocostal dysostosis 6, autosomal recessive"], "xref": ["DOID:0112360", "GARD:0012807", "MEDGEN:899713", "OMIM:616566", "UMLS:C4225279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014696", "name": "Cerebrooculofacioskeletal syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COFS3", "cerebrooculofacioskeletal syndrome 3", "cerebrooculofacioskeletal syndrome type 3"], "xref": ["DOID:0080913", "GARD:0016140", "MEDGEN:342008", "MESH:C565035", "OMIM:616570", "UMLS:C1851443"]}
{"category": ["biolink:Disease"], "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.", "id": "MONDO:0014697", "name": "Immunodeficiency, common variable, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NFKB1 common variable immunodeficiency", "common variable immunodeficiency caused by mutation in NFKB1", "immunodeficiency, common variable, 12", "immunodeficiency, common variable, type 12"], "xref": ["DOID:0081154", "GARD:0016141", "MEDGEN:906018", "OMIM:616576", "Orphanet:696874", "UMLS:C4225277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014698", "name": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome", "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"], "xref": ["GARD:0017804", "MEDGEN:895574", "OMIM:616577", "Orphanet:457351", "UMLS:C4225276"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.", "id": "MONDO:0014699", "name": "Intellectual disability, autosomal dominant 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHAMP1 autosomal dominant non-syndromic intellectual disability", "MRD40", "autosomal dominant intellectual disability 40", "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1", "intellectual disability, autosomal dominant 40", "intellectual disability, autosomal dominant type 40", "mental retardation, autosomal dominant type 40"], "xref": ["DOID:0070070", "GARD:0013539", "MEDGEN:1810363", "OMIM:616579", "Orphanet:692193", "UMLS:C5676894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014700", "name": "Au-kline syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AUKS", "Au-Kline syndrome", "Okamoto syndrome", "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability", "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation", "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation"], "xref": ["GARD:0004064", "MEDGEN:900671", "MESH:C565736", "OMIM:604916", "OMIM:616580", "Orphanet:2729", "Orphanet:453504", "SCTID:722065002", "UMLS:C4225274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014701", "name": "Spondyloepiphyseal dysplasia, stanescu type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SED, Stanescu type", "SEDSTN", "spondyloepiphyseal dysplasia, Stanescu type"], "xref": ["DOID:0112281", "GARD:0017812", "MEDGEN:905084", "OMIM:616583", "Orphanet:459051", "UMLS:C4225273"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.", "id": "MONDO:0014702", "name": "Autosomal recessive complex spastic paraplegia type 9b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ALDH18A1 autosomal recessive complex spastic paraplegia", "AR-SPG9B", "SPG9B", "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1", "hereditary spastic paraplegia type 9B"], "xref": ["DOID:0110825", "GARD:0017770", "MEDGEN:1800403", "OMIM:616586", "Orphanet:447760", "UMLS:C5568980"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.", "id": "MONDO:0014703", "name": "Adams-oliver syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Adams-Oliver syndrome 6", "Adams-Oliver syndrome caused by mutation in DLL4", "Adams-Oliver syndrome type 6", "DLL4 Adams-Oliver syndrome"], "xref": ["GARD:0016142", "MEDGEN:908556", "OMIM:616589", "UMLS:C4225271"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014704", "name": "Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kosaki overgrowth syndrome"], "xref": ["GARD:0017860", "MEDGEN:896409", "OMIM:616592", "Orphanet:477831", "UMLS:C4225270"]}
{"category": ["biolink:Disease"], "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.", "id": "MONDO:0014705", "name": "Craniosynostosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ZIC1 craniosynostosis", "craniosynostosis 6", "craniosynostosis caused by mutation in ZIC1", "craniosynostosis type 6"], "xref": ["DOID:0061008", "GARD:0018048", "MEDGEN:904675", "OMIM:616602", "Orphanet:672985", "UMLS:C4225269"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.", "id": "MONDO:0014706", "name": "Cutis laxa, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADCL3", "cutis laxa, autosomal dominant 3", "cutis laxa, autosomal dominant type 3"], "xref": ["DOID:0070131", "GARD:0016143", "MEDGEN:899774", "OMIM:616603", "UMLS:C4225268"]}
{"category": ["biolink:Disease"], "description": "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.", "id": "MONDO:0014707", "name": "14q32 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(14)q(32)", "predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication", "trisomy 14q32"], "xref": ["GARD:0017890", "MEDGEN:896239", "OMIM:616604", "Orphanet:488280", "UMLS:C4225449"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.", "id": "MONDO:0014708", "name": "Ring chromosome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 14 Ring", "Ring chromosome type 14", "ring chromosome 14 syndrome, isolated cases"], "xref": ["DOID:0070621", "GARD:0006072", "ICD9:758.89", "MEDGEN:419284", "MESH:C535487", "NORD:939", "OMIM:616606", "Orphanet:1440", "SCTID:702345009", "UMLS:C2930916"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.", "id": "MONDO:0014711", "name": "Autosomal dominant charcot-marie-tooth disease type 2w", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2W", "Charcot-Marie-Tooth disease type 2 caused by mutation in HARS", "Charcot-Marie-Tooth disease, axonal, type 2w", "HARS Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation"], "xref": ["DOID:0110162", "GARD:0017891", "MEDGEN:1798909", "OMIM:616625", "Orphanet:488333", "UMLS:C5567486"]}
{"category": ["biolink:Disease"], "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.", "id": "MONDO:0014712", "name": "Senior-loken syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SLSN9", "Senior-Loken syndrome 9", "Senior-Loken syndrome caused by mutation in TRAF3IP1", "Senior-Loken syndrome type 9", "TRAF3IP1 Senior-Loken syndrome"], "xref": ["DOID:0061283", "GARD:0016145", "MEDGEN:899086", "OMIM:616629", "UMLS:C4225263"]}
{"category": ["biolink:Disease"], "description": "Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.", "id": "MONDO:0014713", "name": "Porokeratosis 9, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FDPS porokeratosis (disease)", "POROK9", "porokeratosis (disease) caused by mutation in FDPS", "porokeratosis 9, multiple types"], "xref": ["GARD:0016146", "MEDGEN:894586", "OMIM:616631", "UMLS:C4225262"]}
{"category": ["biolink:Disease"], "description": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.", "id": "MONDO:0014714", "name": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCBMS", "seizures, cortical blindness, microcephaly syndrome"], "xref": ["GARD:0017858", "MEDGEN:1799073", "OMIM:616632", "Orphanet:477814", "UMLS:C5567650"]}
{"category": ["biolink:Disease"], "description": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.", "id": "MONDO:0014715", "name": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD44", "immunodeficiency 44", "immunodeficiency type 44", "primary immunodeficiency with post-MMR vaccine viral infection"], "xref": ["DOID:0111975", "GARD:0017711", "MEDGEN:904009", "NANDO:2200770", "OMIM:616636", "Orphanet:431166", "UMLS:C4225260"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.", "id": "MONDO:0014716", "name": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MINDS syndrome", "Smith-Kingsmore Syndrome", "Smith-Kingsmore syndrome"], "xref": ["GARD:0013636", "MEDGEN:899689", "NORD:91167", "OMIM:616638", "Orphanet:457485", "UMLS:C4225259"]}
{"category": ["biolink:Disease"], "description": "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.", "id": "MONDO:0014717", "name": "Early-onset lafora body disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPM10", "epilepsy, progressive myoclonic, 10", "epilepsy, progressive myoclonic, type 10"], "xref": ["DOID:0111445", "GARD:0017482", "MEDGEN:907932", "OMIM:616640", "Orphanet:324290", "SCTID:733082001", "UMLS:C4225258"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.", "id": "MONDO:0014718", "name": "Developmental and epileptic encephalopathy, 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE34", "EIEE34", "SLC12A5 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 34", "early infantile epileptic encephalopathy caused by mutation in SLC12A5", "epileptic encephalopathy, early infantile, 34", "epileptic encephalopathy, early infantile, type 34"], "xref": ["DOID:0080460", "GARD:0016147", "MEDGEN:899149", "OMIM:616645", "UMLS:C4225257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014719", "name": "Developmental and epileptic encephalopathy, 35", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEE35", "EIEE35", "developmental and epileptic encephalopathy 35", "epileptic encephalopathy, early infantile, 35", "epileptic encephalopathy, early infantile, type 35"], "xref": ["DOID:0080458", "GARD:0017806", "MEDGEN:904159", "OMIM:616647", "Orphanet:457375", "UMLS:C4225256"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.", "id": "MONDO:0014720", "name": "Autosomal dominant optic atrophy plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DOA+", "optic atrophy type 8", "optic atrophy-deafness-polyneuropathy-myopathy syndrome"], "xref": ["DOID:0111340", "GARD:0005243", "Orphanet:1215", "SCTID:715374003", "icd11.foundation:1149710475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014722", "name": "Roifman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RFMN", "Roifman syndrome", "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency", "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome"], "xref": ["GARD:0009163", "MEDGEN:375801", "MESH:C535866", "OMIM:300258", "OMIM:616651", "Orphanet:353298", "UMLS:C1846059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014723", "name": "Pmp22-rai1 contiguous gene duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["17p11.2p12 microduplication syndrome", "YUHAL", "Yuan-Harel-Lupski syndrome", "dup(17)(p11.2p12)", "trisomy 17p11.2-p12", "trisomy 17p11.2p12"], "xref": ["GARD:0017859", "MEDGEN:894862", "OMIM:616652", "Orphanet:477817", "UMLS:C4225255"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.", "id": "MONDO:0014724", "name": "Joubert syndrome 24", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS24", "Joubert syndrome 24", "Joubert syndrome caused by mutation in TCTN2", "Joubert syndrome type 24", "TCTN2 Joubert syndrome"], "xref": ["DOID:0110993", "GARD:0016150", "MEDGEN:905319", "OMIM:616654", "UMLS:C4084841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014725", "name": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASCT1 deficiency", "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome", "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"], "xref": ["DOID:0070537", "GARD:0013425", "MEDGEN:900192", "OMIM:616657", "Orphanet:447997", "UMLS:C4225254"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.", "id": "MONDO:0014726", "name": "Charcot-marie-tooth disease axonal type 2x", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCMT2X", "CMT2X", "Charcot-Marie-Tooth disease caused by mutation in SPG11", "Charcot-Marie-Tooth disease, axonal, type 2x", "SPG11 Charcot-Marie-Tooth disease", "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation"], "xref": ["DOID:0110176", "EFO:1001983", "GARD:0017830", "MEDGEN:1800447", "OMIM:616668", "Orphanet:466775", "UMLS:C5569024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014727", "name": "Immunodeficiency 45", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD45", "immunodeficiency 45", "immunodeficiency type 45"], "xref": ["DOID:0111994", "MEDGEN:901044", "OMIM:616669", "UMLS:C4225252"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.", "id": "MONDO:0014728", "name": "Combined oxidative phosphorylation defect type 27", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CARS2 combined oxidative phosphorylation deficiency", "COXPD27", "combined oxidative phosphorylation deficiency 27", "combined oxidative phosphorylation deficiency caused by mutation in CARS2", "combined oxidative phosphorylation deficiency type 27"], "xref": ["DOID:0111489", "GARD:0017856", "MEDGEN:1799031", "OMIM:616672", "Orphanet:477774", "UMLS:C5567608"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.", "id": "MONDO:0014729", "name": "Hereditary spastic paraplegia 75", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MAG hereditary spastic paraplegia", "SPG75", "autosomal recessive spastic paraplegia type 75", "hereditary spastic paraplegia caused by mutation in MAG", "hereditary spastic paraplegia type 75", "spastic paraplegia 75, autosomal recessive"], "xref": ["DOID:0110820", "GARD:0017813", "MEDGEN:896387", "OMIM:616680", "Orphanet:459056", "UMLS:C4225250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014730", "name": "Microcephaly 16, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCPH16", "microcephaly 16, primary, autosomal recessive"], "xref": ["DOID:0070289", "GARD:0016151", "MEDGEN:898705", "OMIM:616681", "UMLS:C4225249"]}
{"category": ["biolink:Disease"], "description": "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.", "id": "MONDO:0014731", "name": "Seizures-scoliosis-macrocephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SSM syndrome", "SSMS", "seizures, scoliosis, and macrocephaly syndrome"], "xref": ["GARD:0017836", "MEDGEN:909039", "OMIM:616682", "Orphanet:466926", "UMLS:C4225248"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.", "id": "MONDO:0014732", "name": "Hypomyelinating leukodystrophy 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HLD12", "VPS11 leukodystrophy", "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy", "hypomyelinating leukodystrophy type 12", "leukodystrophy caused by mutation in VPS11", "leukodystrophy, hypomyelinating, 12", "leukodystrophy, hypomyelinating, type 12"], "xref": ["DOID:0060796", "GARD:0017837", "MEDGEN:905068", "OMIM:616683", "Orphanet:466934", "UMLS:C4225247"]}
{"category": ["biolink:Disease"], "description": "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).", "id": "MONDO:0014733", "name": "Charcot-marie-tooth disease type 4k", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT4K", "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1", "Charcot-Marie-Tooth disease type 4K", "Charcot-Marie-Tooth disease, type 4k", "SURF1 Charcot-Marie-Tooth disease type 4", "SURF1-related CMT4", "SURF1-related Charcot-Marie-Tooth disease type 4", "SURF1-related severe demyelinating Charcot-Marie-Tooth disease"], "xref": ["DOID:0110187", "GARD:0017616", "MEDGEN:895560", "OMIM:616684", "Orphanet:391351", "SCTID:765047006", "UMLS:C4225246"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.", "id": "MONDO:0014735", "name": "Charcot-marie-tooth disease type 2y", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMT2 due to VCP mutation", "CMT2Y", "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP", "Charcot-Marie-Tooth disease, axonal, type 2y", "Charcot-Marie-Tooth disease, type 2Y", "VCP Charcot-Marie-Tooth disease type 2", "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation"], "xref": ["DOID:0110168", "GARD:0017714", "MEDGEN:1800449", "NCIT:C168974", "OMIM:616687", "Orphanet:435387", "UMLS:C5569026"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.", "id": "MONDO:0014736", "name": "Charcot-marie-tooth disease axonal type 2z", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2Z", "Charcot-Marie-Tooth disease caused by mutation in MORC2", "Charcot-Marie-Tooth disease, axonal, type 2z", "MORC2 Charcot-Marie-Tooth disease", "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation"], "xref": ["DOID:0110181", "GARD:0017829", "MEDGEN:1800448", "OMIM:616688", "Orphanet:466768", "UMLS:C5569025"]}
{"category": ["biolink:Disease"], "description": "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.", "id": "MONDO:0014737", "name": "Dehydrated hereditary stomatocytosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DHS2", "Dehydrated hereditary stomatocytosis 2", "Dehydrated hereditary stomatocytosis type 2", "KCNN4 dehydrated hereditary stomatocytosis", "dehydrated hereditary stomatocytosis 2", "dehydrated hereditary stomatocytosis caused by mutation in KCNN4"], "xref": ["DOID:0111577", "GARD:0016152", "MEDGEN:908701", "OMIM:616689", "UMLS:C4225242"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.", "id": "MONDO:0014738", "name": "Autosomal dominant nonsyndromic hearing loss 69", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110590", "GARD:0018143", "MEDGEN:905882", "OMIM:616697", "UMLS:C4225241"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.", "id": "MONDO:0014739", "name": "Autosomal recessive nonsyndromic hearing loss 97", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110539", "GARD:0022655", "MEDGEN:899875", "OMIM:616705", "UMLS:C4084709"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.", "id": "MONDO:0014740", "name": "Autosomal dominant nonsyndromic hearing loss 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110589", "GARD:0018144", "MEDGEN:898808", "OMIM:616707", "UMLS:C4225240"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014741", "name": "Desanto-shinawi syndrome due to wac point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"], "xref": ["GARD:0017839", "MEDGEN:1841517", "OMIM:616708", "Orphanet:466950", "UMLS:C5681129"]}
{"category": ["biolink:Disease"], "description": "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.", "id": "MONDO:0014742", "name": "Parkinson disease 22, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHCHD2 Parkinson disease", "PARK22", "Parkinson disease 22, autosomal dominant", "Parkinson disease caused by mutation in CHCHD2"], "xref": ["DOID:0080504", "GARD:0025012", "MEDGEN:907886", "OMIM:616710", "UMLS:C4225238"]}
{"category": ["biolink:Disease"], "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.", "id": "MONDO:0014743", "name": "Rhizomelic chondrodysplasia punctata type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PEX5 rhizomelic chondrodysplasia punctata", "RCDP5", "Rcdp5", "rhizomelic chondrodysplasia punctata caused by mutation in PEX5", "rhizomelic chondrodysplasia punctata type 5", "rhizomelic chondrodysplasia punctata, type 5"], "xref": ["DOID:0110854", "GARD:0013320", "MEDGEN:900333", "OMIM:616716", "Orphanet:468717", "UMLS:C4225237"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.", "id": "MONDO:0014744", "name": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCAR21", "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "autosomal recessive spinocerebellar ataxia type 21", "spinocerebellar ataxia, autosomal recessive 21", "spinocerebellar ataxia, autosomal recessive type 21"], "xref": ["DOID:0111155", "GARD:0017833", "MEDGEN:1800507", "OMIM:616719", "Orphanet:466794", "UMLS:C5569084"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.", "id": "MONDO:0014745", "name": "Congenital myasthenic syndrome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS19", "COL13A1 congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in COL13A1", "congenital myasthenic syndrome type 19", "myasthenic syndrome, congenital, 19", "myasthenic syndrome, congenital, type 19"], "xref": ["DOID:0110673", "GARD:0016153", "MEDGEN:897962", "OMIM:616720", "UMLS:C4225235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014746", "name": "Slc39a8-cdg", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIn", "CDG-IIn", "CDG2N", "SLC39A8 deficiency", "carbohydrate deficient glycoprotein syndrome type IIn", "congenital disorder of glycosylation type 2n", "congenital disorder of glycosylation type IIn", "congenital disorder of glycosylation, type IIn"], "xref": ["DOID:0070266", "GARD:0017846", "MEDGEN:899837", "OMIM:616721", "Orphanet:468699", "UMLS:C4225234"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014747", "name": "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["retinal dystrophy and iris coloboma with or without cataract"], "xref": ["GARD:0017888", "MEDGEN:903733", "OMIM:616722", "Orphanet:488197", "UMLS:C4225493"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014748", "name": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SEMDFA", "spondyloepimetaphyseal dysplasia, faden-Alkuraya type"], "xref": ["GARD:0017808", "MEDGEN:1800305", "OMIM:616723", "Orphanet:457395", "UMLS:C5568882"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.", "id": "MONDO:0014749", "name": "Tooth agenesis, selective, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LRP6 tooth agenesis", "STHAG7", "tooth agenesis caused by mutation in LRP6", "tooth agenesis, selective, 7", "tooth agenesis, selective, type 7"], "xref": ["GARD:0018249", "MEDGEN:899184", "OMIM:616724", "UMLS:C4225231"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.", "id": "MONDO:0014750", "name": "Primary ciliary dyskinesia 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD33", "GAS8 primary ciliary dyskinesia", "ciliary dyskinesia, primary, 33", "ciliary dyskinesia, primary, type 33", "primary ciliary dyskinesia caused by mutation in GAS8", "primary ciliary dyskinesia type 33"], "xref": ["DOID:0110619", "GARD:0016154", "MEDGEN:898734", "OMIM:616726", "UMLS:C4225230"]}
{"category": ["biolink:Disease"], "description": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.", "id": "MONDO:0014751", "name": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"], "xref": ["GARD:0017862", "MEDGEN:895943", "OMIM:616728", "Orphanet:477993", "UMLS:C4225229"]}
{"category": ["biolink:Disease"], "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.", "id": "MONDO:0014752", "name": "Nephrotic syndrome, type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS11", "NUP107 familial nephrotic syndrome", "Nup107 familial nephrotic syndrome", "familial nephrotic syndrome caused by mutation in NUP107", "familial nephrotic syndrome caused by mutation in Nup107", "nephrotic syndrome, type 11"], "xref": ["DOID:0080385", "GARD:0016155", "MEDGEN:898622", "OMIM:616730", "UMLS:C4225228"]}
{"category": ["biolink:Disease"], "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.", "id": "MONDO:0014754", "name": "Primary coenzyme q10 deficiency 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COQ10D8", "COQ7 coenzyme Q10 deficiency", "coenzyme Q10 deficiency caused by mutation in COQ7", "coenzyme Q10 deficiency, primary, 8", "coenzyme Q10 deficiency, primary, type 8"], "xref": ["DOID:0070245", "GARD:0025013", "MEDGEN:908648", "OMIM:616733", "UMLS:C4225226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014755", "name": "Skin creases, congenital symmetric circumferential, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSCSC2", "MAPRE2 multiple benign circumferential skin creases on limbs", "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2", "skin creases, congenital symmetric circumferential, 2", "skin creases, congenital symmetric circumferential, type 2", "symmetric circumferential skin creases, congenital, 2"], "xref": ["DOID:0112243", "GARD:0016156", "MEDGEN:902880", "OMIM:616734", "UMLS:C4225225"]}
{"category": ["biolink:Disease"], "description": "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.", "id": "MONDO:0014756", "name": "Tremor, hereditary essential, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ETM5", "TENM4 essential tremor", "essential tremor caused by mutation in TENM4", "essential tremor, hereditary, 5", "tremor, hereditary essential, 5", "tremor, hereditary essential, type 5"], "xref": ["DOID:0111432", "MEDGEN:897748", "OMIM:616736", "UMLS:C4225223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014757", "name": "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Takenouchi-Kosaki syndrome"], "xref": ["GARD:0017884", "MEDGEN:906646", "NANDO:2200985", "OMIM:616737", "Orphanet:487796", "UMLS:C4225222"]}
{"category": ["biolink:Disease"], "description": "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.", "id": "MONDO:0014758", "name": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "RUSAT2", "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM", "radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2"], "xref": ["GARD:0018069", "MEDGEN:901732", "OMIM:616738", "UMLS:C4225221"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.", "id": "MONDO:0014759", "name": "Intellectual disability, autosomal recessive 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HNMT autosomal recessive non-syndromic intellectual disability", "MRT51", "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT", "intellectual developmental disorder, autosomal recessive 51", "intellectual disability, autosomal recessive 51", "intellectual disability, autosomal recessive type 51", "mental retardation, autosomal recessive 51", "mental retardation, autosomal recessive type 51"], "xref": ["DOID:0081214", "GARD:0022571", "MEDGEN:903243", "OMIM:616739", "UMLS:C4225220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014760", "name": "Tfrc-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CID due to TFRC deficiency", "IMD46", "immunodeficiency 46", "immunodeficiency type 46"], "xref": ["DOID:0111948", "GARD:0017849", "MEDGEN:1799556", "OMIM:616740", "Orphanet:476113", "UMLS:C5568133"]}
{"category": ["biolink:Disease"], "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.", "id": "MONDO:0014762", "name": "Heterotaxy, visceral, 7, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HTX7", "MMP21 visceral heterotaxy", "heterotaxy, visceral, 7, autosomal", "visceral heterotaxy caused by mutation in MMP21"], "xref": ["DOID:0051021", "GARD:0025014", "MEDGEN:902629", "OMIM:616749", "UMLS:C4225217"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.", "id": "MONDO:0014764", "name": "Spastic paraplegia-severe developmental delay-epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPPRS syndrome", "spastic paraplegia-psychomotor retardation-seizures syndrome"], "xref": ["GARD:0017816", "MEDGEN:897828", "OMIM:616756", "Orphanet:464282", "UMLS:C4225215"]}
{"category": ["biolink:Disease"], "description": "Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.", "id": "MONDO:0014765", "name": "Wooly hair, autosomal recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARWH3", "KRT25 woolly hair (disease)", "KRT25 wooly hair (disease)", "woolly hair (disease) caused by mutation in KRT25", "woolly hair, autosomal recessive type 3", "wooly hair (disease) caused by mutation in KRT25", "wooly hair, autosomal recessive 3", "wooly hair, autosomal recessive type 3"], "xref": ["DOID:0111574", "GARD:0016157", "MEDGEN:902275", "OMIM:616760", "UMLS:C4225214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014766", "name": "Leukodystrophy and acquired microcephaly with or without dystonia;", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:908888", "OMIM:616763", "UMLS:C4225213"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.", "id": "MONDO:0014767", "name": "Seckel syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCKL9", "Seckel syndrome 9", "Seckel syndrome caused by mutation in TRAIP", "Seckel syndrome type 9", "TRAIP Seckel syndrome"], "xref": ["DOID:0070005", "GARD:0016158", "MEDGEN:907155", "OMIM:616777", "UMLS:C4225212"]}
{"category": ["biolink:Disease"], "description": "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.", "id": "MONDO:0014768", "name": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CADASIL caused by mutation in HTRA1", "CADASIL type 2", "CADASIL2", "HTRA1 CADASIL", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"], "xref": ["DOID:0111036", "GARD:0025015", "MEDGEN:895965", "OMIM:616779", "UMLS:C4225211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014769", "name": "Inherited oocyte maturation defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:prototype_pattern"], "synonym": ["oocyte maturation defect"], "xref": ["OMIMPS:615774"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.", "id": "MONDO:0014770", "name": "Joubert syndrome 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEP104 Joubert syndrome", "JBTS25", "Joubert syndrome 25", "Joubert syndrome caused by mutation in CEP104", "Joubert syndrome type 25"], "xref": ["DOID:0110994", "GARD:0016159", "MEDGEN:895764", "OMIM:616781", "UMLS:C4084842"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.", "id": "MONDO:0014771", "name": "Joubert syndrome 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS26", "Joubert syndrome 26", "Joubert syndrome caused by mutation in KIAA0556", "Joubert syndrome type 26", "KIAA0556 Joubert syndrome"], "xref": ["DOID:0110995", "GARD:0016160", "MEDGEN:900415", "OMIM:616784", "UMLS:C4084843"]}
{"category": ["biolink:Disease"], "description": "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.", "id": "MONDO:0014772", "name": "Orofacial cleft 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DLX4 cleft lip/palate", "OFC15", "cleft lip/palate caused by mutation in DLX4", "orofacial cleft 15", "orofacial cleft type 15"], "xref": ["DOID:0080408", "GARD:0018307", "MEDGEN:909661", "OMIM:616788", "UMLS:C4225209"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects.", "id": "MONDO:0014773", "name": "Cardiac anomalies - developmental delay - facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASRAS", "Asadollahi-Rauch syndrome", "MED13L haploinsufficiency syndrome", "MED13L syndrome", "MED13L-related intellectual disability", "MRFACD", "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "impaired intellectual development and distinctive facial features with or without cardiac defects", "intellectual disability and distinctive facial features with or without cardiac defects", "mental retardation and distinctive Facial features with or without Cardiac defects"], "xref": ["GARD:0017588", "HGNC:22962", "MEDGEN:1675852", "OMIM:616789", "Orphanet:369891", "UMLS:C5192431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014774", "name": "Neuroblastoma, susceptibility to, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["NBLST7", "neuroblastoma, susceptibility to, 7", "neuroblastoma, susceptibility to, type 7"], "xref": ["GARD:0027862", "MEDGEN:899178", "OMIM:616792", "UMLS:C4225207"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.", "id": "MONDO:0014775", "name": "Combined oxidative phosphorylation deficiency 28", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD28", "SLC25A26 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation defect type 28", "combined oxidative phosphorylation deficiency 28", "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26", "combined oxidative phosphorylation deficiency type 28", "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"], "xref": ["DOID:0111470", "GARD:0017831", "MEDGEN:1800504", "OMIM:616794", "Orphanet:466784", "UMLS:C5569081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014776", "name": "Spinocerebellar ataxia type 42", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCA42", "spinocerebellar ataxia 42", "spinocerebellar ataxia type 42"], "xref": ["DOID:0111742", "EFO:0009059", "GARD:0017811", "MEDGEN:902592", "NCIT:C171269", "OMIM:616795", "Orphanet:458803", "UMLS:C4225205"]}
{"category": ["biolink:Disease"], "description": "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.", "id": "MONDO:0014777", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["IHPRF2", "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80", "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2"], "xref": ["GARD:0018458", "MEDGEN:907651", "OMIM:616801", "Orphanet:700333", "UMLS:C4225203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014778", "name": "Lamb-shaffer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LAMSHF", "Lamb-Shaffer syndrome"], "xref": ["GARD:0022211", "MEDGEN:903542", "OMIM:616803", "Orphanet:530983", "UMLS:C4225202"]}
{"category": ["biolink:Disease"], "description": "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.", "id": "MONDO:0014779", "name": "Wilms tumor 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["WT6", "Wilms tumor 6", "Wilms tumor type 6", "Wilms tumour 6", "Wilms tumour type 6"], "xref": ["GARD:0016162", "MEDGEN:855962", "OMIM:616806", "UMLS:C3891301"]}
{"category": ["biolink:Disease"], "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.", "id": "MONDO:0014780", "name": "Hyperphosphatasia with intellectual disability syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPMRS6", "PIGY hyperphosphatasia-intellectual disability syndrome", "hyperphosphatasia with intellectual disability syndrome 6", "hyperphosphatasia with intellectual disability syndrome type 6", "hyperphosphatasia with mental retardation syndrome 6", "hyperphosphatasia with mental retardation syndrome type 6", "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY"], "xref": ["DOID:0070437", "GARD:0018354", "MEDGEN:906509", "OMIM:616809", "UMLS:C4225201"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.", "id": "MONDO:0014781", "name": "Combined oxidative phosphorylation deficiency 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD29", "TXN2 combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 29", "combined oxidative phosphorylation deficiency caused by mutation in TXN2", "combined oxidative phosphorylation deficiency type 29"], "xref": ["DOID:0111501", "GARD:0017863", "MEDGEN:1799030", "OMIM:616811", "Orphanet:478029", "UMLS:C5567607"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.", "id": "MONDO:0014782", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2x", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BVES autosomal recessive limb-girdle muscular dystrophy", "LGMD2X", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES", "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome", "muscular dystrophy, limb-girdle, autosomal recessive 25", "muscular dystrophy, limb-girdle, type 2X", "muscular dystrophy, limb-girdle, type 2x"], "xref": ["DOID:0110290", "GARD:0017847", "MEDGEN:1799561", "OMIM:616812", "Orphanet:476084", "UMLS:C5568138"]}
{"category": ["biolink:Disease"], "description": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.", "id": "MONDO:0014784", "name": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IHPMR", "hypotonia, infantile, with psychomotor retardation"], "xref": ["GARD:0017840", "MEDGEN:902080", "OMIM:616816", "Orphanet:467176", "UMLS:C4225196"]}
{"category": ["biolink:Disease"], "description": "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.", "id": "MONDO:0014785", "name": "Microcephaly, short stature, and impaired glucose metabolism 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MSSGM2", "PPP1R15B microcephaly, short stature, and impaired glucose metabolism", "microcephaly, short stature, and impaired glucose metabolism 2", "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B", "microcephaly, short stature, and impaired glucose metabolism type 2"], "xref": ["GARD:0018460", "MEDGEN:906140", "OMIM:616817", "UMLS:C4225195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014787", "name": "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCAFCA", "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia"], "xref": ["GARD:0017824", "MEDGEN:902346", "OMIM:616819", "Orphanet:466688", "UMLS:C4225193"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.", "id": "MONDO:0014788", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2w", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2W", "LIMS2 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2", "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue", "muscular dystrophy, limb-girdle, type 2W", "muscular dystrophy, limb-girdle, type 2w"], "xref": ["DOID:0110288", "GARD:0017834", "MEDGEN:897675", "OMIM:616827", "Orphanet:466801", "UMLS:C4225192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014789", "name": "Ccdc115-cdg", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIo", "CDG-IIo", "CDG2O", "carbohydrate deficient glycoprotein syndrome type IIo", "congenital disorder of glycosylation type 2o", "congenital disorder of glycosylation type IIo", "congenital disorder of glycosylation, type IIo"], "xref": ["DOID:0070267", "GARD:0017845", "MEDGEN:906792", "OMIM:616828", "Orphanet:468684", "UMLS:C4225191"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014790", "name": "Tmem199-cdg", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG syndrome type IIp", "CDG-IIp", "CDG2P", "carbohydrate deficient glycoprotein syndrome type IIp", "congenital disorder of glycosylation type 2p", "congenital disorder of glycosylation type IIp", "congenital disorder of glycosylation, type IIp"], "xref": ["DOID:0070268", "GARD:0017825", "MEDGEN:895025", "OMIM:616829", "Orphanet:466703", "UMLS:C4225190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014791", "name": "Luscan-lumish syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LLS", "LLs", "Luscan-Lumish syndrome", "SETD2-related overgrowth syndrome"], "xref": ["GARD:0013789", "MEDGEN:898669", "OMIM:616831", "Orphanet:597738", "UMLS:C4085873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014792", "name": "Paget disease of bone 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PDB6", "Paget disease of bone 6", "Paget disease of bone type 6"], "xref": ["DOID:0081369", "MEDGEN:908743", "OMIM:616833", "UMLS:C4085250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014793", "name": "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MCCPD", "microcephaly, congenital cataract, and psoriasiform dermatitis", "smo deficiency", "sterol-C4-methyl oxidase deficiency"], "xref": ["GARD:0017886", "MEDGEN:1798933", "OMIM:616834", "Orphanet:488168", "UMLS:C5567510"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.", "id": "MONDO:0014794", "name": "Meier-gorlin syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GMNN Meier-Gorlin syndrome", "MGORS6", "Meier-Gorlin syndrome 6", "Meier-Gorlin syndrome caused by mutation in GMNN", "Meier-Gorlin syndrome type 6"], "xref": ["DOID:0080517", "GARD:0016163", "MEDGEN:905079", "OMIM:616835", "UMLS:C4225188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014795", "name": "Exercise intolerance, riboflavin-responsive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exercise intolerance, riboflavin-responsive"], "xref": ["MEDGEN:896368", "OMIM:616839", "UMLS:C4225187"]}
{"category": ["biolink:Disease"], "description": "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.", "id": "MONDO:0014796", "name": "Autosomal recessive early-onset parkinson disease 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PARK23", "Parkinson disease 23, autosomal recessive early-onset", "Parkinson disease 23, autosomal recessive, early onset", "VPS13C young-onset Parkinson disease", "autosomal recessive early-onset Parkinson disease 23", "autosomal recessive early-onset Parksinson disease type 23", "young-onset Parkinson disease caused by mutation in VPS13C"], "xref": ["DOID:0060896", "GARD:0018610", "MEDGEN:896607", "OMIM:616840", "UMLS:C4225186"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014797", "name": "Lymphatic malformation 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LMPH3", "PIEZO1-related LRHF/GLD", "PIEZO1-related generalised lymphatic dysplasia with systemic involvement", "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis", "PIEZO1-related generalized lymphatic dysplasia with systemic involvement", "PIEZO1-related lymphatic-related hydrops fetalis", "generalised lymphatic dysplasia of Fotiou", "generalized lymphatic dysplasia of Fotiou", "lymphedema, hereditary, III", "lymphedema, hereditary, type III"], "xref": ["GARD:0022301", "MEDGEN:908120", "OMIM:616843", "Orphanet:568062", "UMLS:C4225184"]}
{"category": ["biolink:Disease"], "description": "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.", "id": "MONDO:0014798", "name": "Brachydactyly type a1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BDA1D", "BMPR1B brachydactyly type A1", "brachydactyly type A1 caused by mutation in BMPR1B", "brachydactyly, type A1, D"], "xref": ["DOID:0110978", "GARD:0016164", "MEDGEN:903193", "OMIM:616849", "UMLS:C4225183"]}
{"category": ["biolink:Disease"], "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.", "id": "MONDO:0014799", "name": "Cataract 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTRCT45", "SIPA1L3 early-onset non-syndromic cataract", "cataract 45", "cataract type 45", "early-onset non-syndromic cataract caused by mutation in SIPA1L3"], "xref": ["DOID:0110262", "GARD:0025016", "MEDGEN:895198", "OMIM:616851", "UMLS:C4225182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014800", "name": "Progressive scapulohumeroperoneal distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myopathy, scapulohumeroperoneal"], "xref": ["GARD:0017779", "MEDGEN:905125", "OMIM:616852", "Orphanet:447977", "UMLS:C4225181"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014801", "name": "Even-plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EVPLS", "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome", "even-plus syndrome"], "xref": ["GARD:0017913", "MEDGEN:904613", "OMIM:616854", "Orphanet:496751", "UMLS:C4225180"]}
{"category": ["biolink:Disease"], "description": "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.", "id": "MONDO:0014802", "name": "Cowden syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cowden disease caused by mutation in SEC23B", "Cowden syndrome 7", "Cowden syndrome type 7", "SEC23B Cowden disease"], "xref": ["DOID:0081003", "GARD:0016470", "MEDGEN:908796", "OMIM:616858", "UMLS:C4225179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014803", "name": "Spasticity-ataxia-gait anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPAHGC", "childhood-onset spasticity with variant non-ketotic hyperglycinemia", "spasticity, childhood-onset, with hyperglycinemia"], "xref": ["GARD:0012681", "MEDGEN:905660", "OMIM:616859", "Orphanet:401866", "UMLS:C4225178"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014804", "name": "Sideroblastic anemia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GLRX5-related sideroblastic anaemia", "GLRX5-related sideroblastic anemia", "SIDBA3", "adult-onset autosomal recessive sideroblastic anaemia", "adult-onset autosomal recessive sideroblastic anemia", "anemia, sideroblastic, 3, pyridoxine-refractory"], "xref": ["DOID:0080343", "GARD:0017235", "MEDGEN:895975", "OMIM:616860", "Orphanet:255132", "SCTID:720465002", "UMLS:C4225155"]}
{"category": ["biolink:Disease"], "description": "A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).", "id": "MONDO:0014805", "name": "Hao-fountain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HAFOUS", "USP7-Related Diseases"], "xref": ["GARD:0025017", "MEDGEN:1719035", "NORD:1917", "Orphanet:643549", "UMLS:C5393908"]}
{"category": ["biolink:Disease"], "description": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.", "id": "MONDO:0014806", "name": "Spinal muscular atrophy with congenital bone fractures 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMABF1", "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures", "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4", "spinal muscular atrophy with congenital bone fractures 1", "spinal muscular atrophy with congenital bone fractures type 1", "spinal muscular atrophy, type I, with congenital bone fractures"], "xref": ["GARD:0004947", "MEDGEN:896011", "MESH:C564805", "OMIM:271225", "OMIM:616866", "UMLS:C4225177"]}
{"category": ["biolink:Disease"], "description": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.", "id": "MONDO:0014807", "name": "Spinal muscular atrophy with congenital bone fractures 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures", "SMABF2", "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1", "spinal muscular atrophy with congenital bone fractures 2", "spinal muscular atrophy with congenital bone fractures type 2"], "xref": ["GARD:0018495", "MEDGEN:907910", "OMIM:616867", "UMLS:C4225176"]}
{"category": ["biolink:Disease"], "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.", "id": "MONDO:0014808", "name": "Congenital secretory sodium diarrhea 8", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DIAR8", "SLC9A3 secretory diarrhea", "SLC9A3 secretory diarrhoea", "congenital secretory sodium diarrhea type 8", "congenital secretory sodium diarrhoea type 8", "diarrhea 8, secretory sodium, congenital", "diarrhoea 8, secretory sodium, congenital", "secretory diarrhea caused by mutation in SLC9A3", "secretory diarrhoea caused by mutation in SLC9A3"], "xref": ["DOID:0060777", "GARD:0018261", "MEDGEN:1783137", "OMIM:616868", "UMLS:C5441928"]}
{"category": ["biolink:Disease"], "description": "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.", "id": "MONDO:0014809", "name": "Ddx41-related hematologic malignancy predisposition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["DDX41 hereditary neoplastic syndrome", "DDX41-related hematologic malignancy predisposition syndrome", "MPLPF", "hereditary neoplastic syndrome caused by mutation in DDX41", "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to"], "xref": ["GARD:0017899", "MEDGEN:895780", "OMIM:616871", "Orphanet:488647", "UMLS:C4225174"]}
{"category": ["biolink:Disease"], "description": "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.", "id": "MONDO:0014810", "name": "Pancytopenia due to ikzf1 mutations", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CVID13", "Cid due to IKAROS deficiency", "IKZF1 syndrome with combined immunodeficiency", "combined immunodeficiency due to IKAROS deficiency", "immunodeficiency, common variable, 13", "immunodeficiency, common variable, type 13", "syndrome with combined immunodeficiency caused by mutation in IKZF1"], "xref": ["DOID:0081155", "GARD:0017442", "MEDGEN:905078", "OMIM:616873", "Orphanet:317473", "UMLS:C4225173", "icd11.foundation:1240674590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014811", "name": "Cerebellar atrophy, visual impairment, and psychomotor retardation;", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081276", "GARD:0027055", "MEDGEN:905041", "OMIM:616875", "UMLS:C4225172"]}
{"category": ["biolink:Disease"], "description": "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.", "id": "MONDO:0014813", "name": "Hypomyelinating leukodystrophy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIKESHI leukodystrophy", "HLD13", "hikeshi leukodystrophy", "hypomyelinating leukodystrophy type 13", "leukodystrophy caused by mutation in HIKESHI", "leukodystrophy caused by mutation in hikeshi", "leukodystrophy, hypomyelinating, 13", "leukodystrophy, hypomyelinating, type 13"], "xref": ["DOID:0060795", "GARD:0025018", "MEDGEN:896545", "OMIM:616881", "UMLS:C4225170"]}
{"category": ["biolink:Disease"], "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.", "id": "MONDO:0014814", "name": "Advanced sleep phase syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FASPS3", "PER3 advanced sleep phase syndrome", "advanced sleep phase syndrome caused by mutation in PER3", "advanced sleep phase syndrome type 3", "advanced sleep phase syndrome, familial, 3", "advanced sleep phase syndrome, familial, type 3"], "xref": ["DOID:0110013", "GARD:0016165", "MEDGEN:909447", "OMIM:616882", "UMLS:C4225169"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.", "id": "MONDO:0014815", "name": "Intellectual disability, autosomal recessive 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMAN2L autosomal recessive non-syndromic intellectual disability", "MRT52", "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L", "intellectual developmental disorder, autosomal recessive 52", "intellectual disability, autosomal recessive 52", "intellectual disability, autosomal recessive type 52", "mental retardation, autosomal recessive 52", "mental retardation, autosomal recessive type 52"], "xref": ["DOID:0081215", "GARD:0022572", "MEDGEN:903181", "OMIM:616887", "UMLS:C4225168"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014816", "name": "Split-foot malformation-mesoaxial polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SFMMP", "split-foot malformation with mesoaxial polydactyly", "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"], "xref": ["GARD:0017889", "MEDGEN:1798910", "OMIM:616890", "Orphanet:488232", "UMLS:C5567487"]}
{"category": ["biolink:Disease"], "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.", "id": "MONDO:0014817", "name": "Nephrotic syndrome, type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS12", "NUP93 familial nephrotic syndrome", "familial nephrotic syndrome caused by mutation in NUP93", "nephrotic syndrome, type 12"], "xref": ["DOID:0080387", "GARD:0016166", "MEDGEN:904365", "OMIM:616892", "UMLS:C4225166"]}
{"category": ["biolink:Disease"], "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.", "id": "MONDO:0014818", "name": "Nephrotic syndrome, type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS13", "NUP205 familial nephrotic syndrome", "familial nephrotic syndrome caused by mutation in NUP205", "nephrotic syndrome, type 13"], "xref": ["DOID:0080381", "GARD:0016167", "MEDGEN:900240", "OMIM:616893", "UMLS:C4225165"]}
{"category": ["biolink:Disease"], "description": "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.", "id": "MONDO:0014819", "name": "Autosomal dominant robinow syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DRS3", "DVL3 Robinow syndrome", "Robinow syndrome caused by mutation in DVL3", "Robinow syndrome, autosomal dominant 3", "Robinow syndrome, autosomal dominant type 3", "autosomal dominant Robinow syndrome type 3"], "xref": ["DOID:0060767", "GARD:0018549", "MEDGEN:907878", "OMIM:616894", "UMLS:C4225164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014820", "name": "Mitochondrial dna depletion syndrome 14b (cardioencephalomyopathic type)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MTDPS14", "OPA1 mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)", "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)", "mitochondrial DNA depletion syndrome caused by mutation in OPA1"], "xref": ["DOID:0080336", "GARD:0025019", "MEDGEN:903789", "OMIM:616896", "UMLS:C4225163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014821", "name": "Complex lethal osteochondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type"], "xref": ["GARD:0017807", "MEDGEN:900688", "OMIM:616897", "Orphanet:457378", "UMLS:C4225162"]}
{"category": ["biolink:Disease"], "description": "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.", "id": "MONDO:0014822", "name": "15q14 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Del(15)(q14)", "monosomy 15q14"], "xref": ["GARD:0017242", "MEDGEN:930899", "OMIM:616898", "Orphanet:261190", "SCTID:719575008", "UMLS:C4305230"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.", "id": "MONDO:0014823", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IHPRF3", "TBCK ID-syndrome", "TBCK syndrome", "TBCK-related encephalopathy", "hypotonia, infantile, with psychomotor retardation and characteristic facies 3"], "xref": ["DOID:0060935", "GARD:0017896", "MEDGEN:1798903", "OMIM:616900", "Orphanet:488632", "UMLS:C5567480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014825", "name": "Chromosome 11p13 deletion syndrome, distal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025020", "MEDGEN:935014", "OMIM:616902", "UMLS:C4311047"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.", "id": "MONDO:0014827", "name": "Autosomal recessive spastic paraplegia type 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAPN1 autosomal recessive complex spastic paraplegia", "SPG76", "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1", "hereditary spastic paraplegia type 76", "spastic paraplegia 76, autosomal recessive"], "xref": ["DOID:0110821", "GARD:0017892", "MEDGEN:1798906", "OMIM:616907", "Orphanet:488594", "UMLS:C5567483"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.", "id": "MONDO:0014828", "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome", "immunodeficiency-centromeric instability-Facial anomalies syndrome 3", "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3", "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7", "immunodeficiency-centromeric instability-facial anomalies syndrome type 3"], "xref": ["DOID:0090010", "GARD:0016168", "MEDGEN:934766", "OMIM:616910", "UMLS:C4310799"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.", "id": "MONDO:0014829", "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HELLS immunodeficiency-centromeric instability-facial anomalies syndrome", "immunodeficiency-centromeric instability-Facial anomalies syndrome 4", "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4", "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS", "immunodeficiency-centromeric instability-facial anomalies syndrome type 4"], "xref": ["DOID:0090011", "GARD:0016169", "MEDGEN:934765", "OMIM:616911", "UMLS:C4310798"]}
{"category": ["biolink:Disease"], "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.", "id": "MONDO:0014830", "name": "Platelet-type bleeding disorder 20", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BDPLT20", "SLFN14 inherited bleeding disorder, platelet-type", "autosomal dominant thrombocytopenia with platelet secretion defect", "bleeding disorder, platelet-type, 20", "inherited bleeding disorder, platelet-type caused by mutation in SLFN14"], "xref": ["DOID:0111055", "GARD:0018491", "MEDGEN:934764", "OMIM:616913", "Orphanet:466806", "UMLS:C4310797"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014831", "name": "Progeroid and marfanoid aspect-lipodystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marfan lipodystrophy syndrome"], "xref": ["GARD:0017371", "MEDGEN:934763", "OMIM:616914", "Orphanet:300382", "UMLS:C4310796"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014832", "name": "Intellectual disability, autosomal recessive 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GPIBD13", "MRT53", "PIGG-CDG", "congenital disorder of glycosylation due to PIGG deficiency", "early-onset epilepsy-intellectual disability-brain anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 13", "intellectual developmental disorder, autosomal recessive 53", "intellectual disability, autosomal recessive 53", "intellectual disability, autosomal recessive type 53", "mental retardation, autosomal recessive 53", "mental retardation, autosomal recessive type 53"], "xref": ["GARD:0017897", "MEDGEN:934761", "OMIM:616917", "Orphanet:488635", "UMLS:C4310794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014833", "name": "Heart and brain malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HBMS", "heart and brain malformation syndrome"], "xref": ["MEDGEN:934760", "OMIM:616920", "UMLS:C4310793"]}
{"category": ["biolink:Disease"], "description": "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.", "id": "MONDO:0014835", "name": "Striatal degeneration, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADSD2", "PDE10A striatal degeneration, autosomal dominant", "striatal Degeneration, autosomal dominant 2", "striatal Degeneration, autosomal dominant type 2", "striatal degeneration, autosomal dominant 2", "striatal degeneration, autosomal dominant caused by mutation in PDE10A"], "xref": ["DOID:0060998", "GARD:0025021", "MEDGEN:934758", "OMIM:616922", "UMLS:C4310791"]}
{"category": ["biolink:Disease"], "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.", "id": "MONDO:0014836", "name": "Charcot-marie-tooth disease axonal type 2cc", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2CC", "Charcot-Marie-Tooth disease axonal type 2CC", "Charcot-Marie-Tooth disease caused by mutation in NEFH", "Charcot-Marie-Tooth disease, axonal, type 2cc", "NEFH Charcot-Marie-Tooth disease"], "xref": ["DOID:0110180", "GARD:0025022", "MEDGEN:934757", "OMIM:616924", "UMLS:C4310790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014837", "name": "Thrombocytopenia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary thrombocytopenia with early-onset myelofibrosis", "thrombocytopenia 6", "thrombocytopenia type 6"], "xref": ["GARD:0017870", "MEDGEN:934756", "OMIM:616937", "Orphanet:480851", "UMLS:C4310789"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.", "id": "MONDO:0014838", "name": "Coffin-siris syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Coffin-Siris syndrome 5", "Coffin-Siris syndrome caused by mutation in SMARCE1", "Coffin-Siris syndrome type 5", "SMARCE1 Coffin-Siris syndrome"], "xref": ["DOID:0112368", "GARD:0016170", "MEDGEN:934755", "OMIM:616938", "UMLS:C4310788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014839", "name": "Chorea, childhood-onset, with psychomotor retardation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["COCPMR", "chorea, childhood-onset, with psychomotor retardation"], "xref": ["MEDGEN:934754", "OMIM:616939", "UMLS:C4310787"]}
{"category": ["biolink:Disease"], "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.", "id": "MONDO:0014840", "name": "Agammaglobulinemia 8, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGM8", "TCF3 autosomal agammaglobulinemia", "agammaglobulinemia 8, autosomal dominant", "autosomal agammaglobulinemia caused by mutation in TCF3"], "xref": ["DOID:0081140", "GARD:0016171", "MEDGEN:934753", "OMIM:616941", "UMLS:C4310786"]}
{"category": ["biolink:Disease"], "description": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.", "id": "MONDO:0014841", "name": "Trichothiodystrophy 6, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GTF2E2 nonphotosensitive trichothiodystrophy", "TTD6", "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2", "trichothiodystrophy 6, nonphotosensitive"], "xref": ["DOID:0111872", "GARD:0016172", "MEDGEN:934752", "OMIM:616943", "UMLS:C4310785"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.", "id": "MONDO:0014842", "name": "Intellectual disability, autosomal dominant 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRD41", "TBL1XR1 autosomal dominant non-syndromic intellectual disability", "autosomal dominant intellectual disability 41", "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1", "intellectual disability, autosomal dominant 41", "intellectual disability, autosomal dominant type 41", "mental retardation, autosomal dominant 41", "mental retardation, autosomal dominant type 41"], "xref": ["DOID:0070071", "GARD:0025023", "MEDGEN:934751", "OMIM:616944", "UMLS:C4310784"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.", "id": "MONDO:0014843", "name": "Premature ovarian failure 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ERCC6 primary ovarian failure", "POF11", "premature ovarian failure 11", "premature ovarian failure type 11", "primary ovarian failure caused by mutation in ERCC6"], "xref": ["DOID:0080868", "DOID:0080869", "GARD:0025024", "MEDGEN:934750", "OMIM:616946", "UMLS:C4310783"]}
{"category": ["biolink:Disease"], "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.", "id": "MONDO:0014844", "name": "Premature ovarian failure 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF12", "SYCE1 primary ovarian failure", "premature ovarian failure 12", "premature ovarian failure type 12", "primary ovarian failure caused by mutation in SYCE1"], "xref": ["GARD:0025025", "MEDGEN:934749", "OMIM:616947", "UMLS:C4310782"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.", "id": "MONDO:0014845", "name": "Spinocerebellar ataxia, autosomal recessive 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCAR22", "VWA3B autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in VWA3B", "spinocerebellar ataxia, autosomal recessive 22", "spinocerebellar ataxia, autosomal recessive type 22"], "xref": ["DOID:0111614", "GARD:0025026", "MEDGEN:934748", "OMIM:616948", "UMLS:C4310781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014846", "name": "Spinocerebellar ataxia, autosomal recessive 23", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR23", "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency", "spinocerebellar ataxia autosomal recessive type 23", "spinocerebellar ataxia, autosomal recessive 23", "spinocerebellar ataxia, autosomal recessive type 23"], "xref": ["DOID:0111613", "GARD:0017677", "MEDGEN:1667331", "OMIM:616949", "Orphanet:404493", "UMLS:C4750914"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.", "id": "MONDO:0014847", "name": "Spermatogenic failure 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPGF15", "SYCE1 azoospermia", "azoospermia caused by mutation in SYCE1", "spermatogenic failure 15", "spermatogenic failure type 15"], "xref": ["DOID:0070172", "GARD:0016173", "MEDGEN:934746", "OMIM:616950", "UMLS:C4310779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014848", "name": "Telo2-related intellectual disability-neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["you-Hoover-Fong syndrome"], "xref": ["GARD:0017898", "MEDGEN:934745", "OMIM:616954", "Orphanet:488642", "UMLS:C4310778"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014850", "name": "Retinitis pigmentosa and erythrocytic microcytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["RPEM", "retinitis pigmentosa and erythrocytic microcytosis"], "xref": ["MEDGEN:934743", "OMIM:616959", "UMLS:C4310776"]}
{"category": ["biolink:Disease"], "description": "Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.", "id": "MONDO:0014851", "name": "Hypercalcemia, infantile, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HCINF2", "SLC34A1 autosomal recessive infantile hypercalcemia", "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1", "hypercalcemia, infantile 2", "hypercalcemia, infantile, 2", "hypercalcemia, infantile, type 2"], "xref": ["DOID:0061135", "GARD:0018435", "MEDGEN:934441", "OMIM:616963", "UMLS:C4310473"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.", "id": "MONDO:0014853", "name": "Autosomal dominant nonsyndromic hearing loss 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant nonsyndromic hearing loss 70"], "xref": ["DOID:0110592", "GARD:0018145", "MEDGEN:934742", "OMIM:616968", "UMLS:C4310775"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.", "id": "MONDO:0014854", "name": "Autosomal dominant nonsyndromic hearing loss 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0110587", "GARD:0018146", "MEDGEN:924418", "OMIM:616969", "UMLS:C4283893"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.", "id": "MONDO:0014855", "name": "Intellectual disability, autosomal dominant 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GNB1-related disorder", "GNB1-related neurodevelopmental disorder", "MRD42", "autosomal dominant intellectual disability 42", "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "intellectual developmental disorder, autosomal dominant 42", "intellectual disability, autosomal dominant 42", "intellectual disability, autosomal dominant type 42", "mental retardation, autosomal dominant 42", "mental retardation, autosomal dominant type 42"], "xref": ["DOID:0070072", "GARD:0018501", "MEDGEN:934741", "OMIM:616973", "Orphanet:488613", "UMLS:C4310774"]}
{"category": ["biolink:Disease"], "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.", "id": "MONDO:0014856", "name": "Combined oxidative phosphorylation defect type 30", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD30", "TRMT10C combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 30", "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C", "combined oxidative phosphorylation deficiency type 30"], "xref": ["DOID:0111471", "GARD:0017864", "MEDGEN:1799028", "OMIM:616974", "Orphanet:478042", "UMLS:C5567605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014857", "name": "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEDBEH", "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "rere-related neurodevelopmental syndrome"], "xref": ["EFO:0009645", "GARD:0017902", "MEDGEN:1798900", "OMIM:616975", "Orphanet:494344", "UMLS:C5567477"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.", "id": "MONDO:0014858", "name": "Intellectual disability, autosomal dominant 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIVEP2 autosomal dominant non-syndromic intellectual disability", "MRD43", "autosomal dominant intellectual disability 43", "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2", "intellectual disability, autosomal dominant 43", "intellectual disability, autosomal dominant type 43", "mental retardation, autosomal dominant 43", "mental retardation, autosomal dominant type 43"], "xref": ["DOID:0070073", "GARD:0013179", "MEDGEN:1640004", "OMIM:616977", "SCTID:765434008", "UMLS:C4707429"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.", "id": "MONDO:0014859", "name": "Developmental and epileptic encephalopathy, 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE37", "EIEE37", "FRRS1L early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 37", "early infantile epileptic encephalopathy caused by mutation in FRRS1L", "epileptic encephalopathy, early infantile, 37", "epileptic encephalopathy, early infantile, type 37"], "xref": ["DOID:0080435", "GARD:0025027", "MEDGEN:934737", "OMIM:616981", "UMLS:C4310770"]}
{"category": ["biolink:Disease"], "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.", "id": "MONDO:0014860", "name": "Polycystic liver disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PCLD2", "polycystic liver disease 2", "polycystic liver disease type 2"], "xref": ["DOID:0060975", "GARD:0016174", "MEDGEN:934736", "OMIM:617004", "UMLS:C4310769"]}
{"category": ["biolink:Disease"], "description": "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.", "id": "MONDO:0014861", "name": "Autoimmune disease, multisystem, infantile-onset, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADMIO2", "ZAP70 autoimmune disease, multisystem, infantile-onset", "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70", "autoimmune disease, multisystem, infantile-onset, 2", "autoimmune disease, multisystem, infantile-onset, type 2"], "xref": ["DOID:0061161", "MEDGEN:934735", "OMIM:617006", "UMLS:C4310768"]}
{"category": ["biolink:Disease"], "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.", "id": "MONDO:0014862", "name": "Cerebral palsy, spastic quadriplegic, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ADD3 spastic quadriplegia", "CPSQ3", "cerebral palsy, spastic quadriplegic, 3", "cerebral palsy, spastic quadriplegic, type 3", "spastic quadriplegia caused by mutation in ADD3"], "xref": ["DOID:0081361", "GARD:0018310", "MEDGEN:934734", "OMIM:617008", "UMLS:C4310767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014863", "name": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MDFPMR", "macrocephaly, dysmorphic facies, and psychomotor retardation"], "xref": ["MEDGEN:934733", "OMIM:617011", "UMLS:C4310766"]}
{"category": ["biolink:Disease"], "description": "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.", "id": "MONDO:0014864", "name": "Hypermanganesemia with dystonia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HMNDYT2", "SLC39A14 hypermanganesemia with dystonia", "hypermanganesemia with dystonia 2", "hypermanganesemia with dystonia caused by mutation in SLC39A14", "hypermanganesemia with dystonia type 2"], "xref": ["DOID:0080537", "GARD:0017958", "MEDGEN:934732", "OMIM:617013", "Orphanet:521406", "SCTID:768554008", "UMLS:C4310765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014865", "name": "Autosomal recessive severe congenital neutropenia due to csf3r deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neutropenia, Severe congenital, 7, autosomal recessive"], "xref": ["DOID:0112129", "GARD:0017698", "MEDGEN:934731", "OMIM:617014", "Orphanet:420702", "UMLS:C4310764"]}
{"category": ["biolink:Disease"], "description": "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.", "id": "MONDO:0014867", "name": "Spinocerebellar ataxia 43", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MME autosomal dominant cerebellar ataxia", "SCA43", "autosomal dominant cerebellar ataxia caused by mutation in MME", "spinocerebellar ataxia 43", "spinocerebellar ataxia type 43"], "xref": ["DOID:0111745", "GARD:0017917", "MEDGEN:934730", "OMIM:617018", "Orphanet:497764", "UMLS:C4310763"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.", "id": "MONDO:0014868", "name": "Developmental and epileptic encephalopathy, 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARV1 early infantile epileptic encephalopathy", "DEE38", "EIEE38", "developmental and epileptic encephalopathy 38", "early infantile epileptic encephalopathy caused by mutation in ARV1", "epileptic encephalopathy, early infantile, 38", "epileptic encephalopathy, early infantile, type 38"], "xref": ["DOID:0080417", "GARD:0016175", "MEDGEN:934729", "OMIM:617020", "UMLS:C4310762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014869", "name": "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HLASA", "hydrops, lactic acidosis, and sideroblastic anaemia", "hydrops, lactic acidosis, and sideroblastic anemia"], "xref": ["GARD:0017966", "MEDGEN:934728", "OMIM:617021", "Orphanet:528091", "UMLS:C4310761"]}
{"category": ["biolink:Disease"], "description": "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.", "id": "MONDO:0014870", "name": "Nek9-related lethal skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LCCS10", "lethal congenital contracture syndrome 10", "lethal congenital contracture syndrome type 10", "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"], "xref": ["DOID:0061266", "GARD:0017818", "MEDGEN:1799564", "OMIM:617022", "Orphanet:464366", "UMLS:C5568141"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.", "id": "MONDO:0014871", "name": "Retinitis pigmentosa 75", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGBL5 retinitis pigmentosa", "RP75", "retinitis pigmentosa 75", "retinitis pigmentosa caused by mutation in AGBL5", "retinitis pigmentosa type 75"], "xref": ["DOID:0110361", "GARD:0016176", "MEDGEN:934726", "OMIM:617023", "UMLS:C4310759"]}
{"category": ["biolink:Disease"], "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.", "id": "MONDO:0014872", "name": "Congenital stationary night blindness 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSNB1H", "GNB3 congenital stationary night blindness", "congenital stationary night blindness caused by mutation in GNB3", "congenital stationary night blindness type 1H", "night blindness, congenital stationary, type 1H"], "xref": ["DOID:0110866", "GARD:0016177", "MEDGEN:934725", "OMIM:617024", "UMLS:C4310758"]}
{"category": ["biolink:Disease"], "description": "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.", "id": "MONDO:0014873", "name": "Nevus comedonicus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nevus comedonicus", "acne Nevus", "acneiform Nevus", "comedo Nevus", "nevus comedonicus, somatic", "pilosebaceous nevoid disorder"], "xref": ["GARD:0013073", "MEDGEN:75592", "NCIT:C3946", "OMIM:617025", "Orphanet:64754", "SCTID:35962006", "UMLS:C0265987"]}
{"category": ["biolink:Disease"], "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.", "id": "MONDO:0014874", "name": "Pontocerebellar hypoplasia, type 2f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCH2F", "TSEN15 non-syndromic pontocerebellar hypoplasia", "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15", "pontocerebellar hypoplasia, type 2F"], "xref": ["DOID:0112329", "GARD:0016178", "MEDGEN:934724", "OMIM:617026", "UMLS:C4310757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014875", "name": "Hyperaldosteronism, familial, type iv", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HALD4", "familial hyperaldosteronism type IV", "hyperaldosteronism, familial, type IV"], "xref": ["DOID:0061250", "GARD:0025028", "MEDGEN:934723", "OMIM:617027", "Orphanet:642671", "UMLS:C4310756"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.", "id": "MONDO:0014876", "name": "Intellectual disability, autosomal recessive 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT54", "TNIK autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK", "intellectual developmental disorder 54", "intellectual disability, autosomal recessive 54", "intellectual disability, autosomal recessive type 54", "mental retardation, autosomal recessive 54", "mental retardation, autosomal recessive type 54"], "xref": ["DOID:0081216", "GARD:0022573", "MEDGEN:934722", "OMIM:617028", "UMLS:C4310755"]}
{"category": ["biolink:Disease"], "description": "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.", "id": "MONDO:0014877", "name": "Adenylosuccinate Synthetase 1 (ADSS1) Myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ADSSL1 distal myopathy", "ADSSL1-related distal myopathy", "MPD5", "adenylosuccinate synthetase-like 1-related distal myopathy", "distal myopathy caused by mutation in ADSSL1", "myopathy, distal, 5", "myopathy, distal, type 5"], "xref": ["GARD:0017878", "MEDGEN:1798944", "OMIM:617030", "Orphanet:482601", "UMLS:C5567521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014878", "name": "Patent ductus arteriosus 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PDA2", "patent ductus arteriosus 2", "patent ductus arteriosus type 2"], "xref": ["GARD:0018489", "MEDGEN:924886", "OMIM:617035", "UMLS:C4284595"]}
{"category": ["biolink:Disease"], "description": "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.", "id": "MONDO:0014880", "name": "Duane retraction syndrome 3 with or without deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DURS3", "Duane retraction syndrome 3 with or without deafness", "Duane retraction syndrome caused by mutation in MAFB", "MAFB Duane retraction syndrome"], "xref": ["DOID:0061029", "GARD:0010691", "MEDGEN:934719", "OMIM:617041", "UMLS:C4310752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014881", "name": "Transketolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TKT deficiency", "short stature-developmental delay-congenital heart defect syndrome"], "xref": ["GARD:0017894", "MEDGEN:1814561", "OMIM:617044", "Orphanet:488618", "UMLS:C5700245"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.", "id": "MONDO:0014882", "name": "Hereditary spastic paraplegia 77", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FARS2 hereditary spastic paraplegia", "SPG77", "hereditary spastic paraplegia caused by mutation in FARS2", "hereditary spastic paraplegia type 77", "spastic paraplegia 77, autosomal recessive"], "xref": ["DOID:0110822", "GARD:0017827", "MEDGEN:1800430", "OMIM:617046", "Orphanet:466722", "UMLS:C5569007"]}
{"category": ["biolink:Disease"], "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.", "id": "MONDO:0014883", "name": "Hypertrophic cardiomyopathy 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMH26", "FLNC hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, 26", "cardiomyopathy, familial hypertrophic, type 26", "cardiomyopathy, familial restrictive 5", "hypertrophic cardiomyopathy caused by mutation in FLNC", "hypertrophic cardiomyopathy type 26"], "xref": ["DOID:0110327", "GARD:0025029", "MEDGEN:934716", "OMIM:617047", "UMLS:C4310749"]}
{"category": ["biolink:Disease"], "description": "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.", "id": "MONDO:0014884", "name": "Cholestasis, progressive familial intrahepatic, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NR1H4 deficiency", "NR1H4 progressive familial intrahepatic cholestasis", "PFIC5", "cholestasis, progressive familial intrahepatic, 5", "cholestasis, progressive familial intrahepatic, type 5", "progressive familial intrahepatic cholestasis caused by mutation in NR1H4"], "xref": ["DOID:0070225", "GARD:0017867", "MEDGEN:934714", "NANDO:1201047", "OMIM:617049", "Orphanet:480476", "UMLS:C4310747"]}
{"category": ["biolink:Disease"], "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.", "id": "MONDO:0014885", "name": "Hermansky-pudlak syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AP3D1 Hermansky-Pudlak syndrome", "HPS10", "Hermansky-Pudlak syndrome 10", "Hermansky-Pudlak syndrome caused by mutation in AP3D1", "Hermansky-Pudlak syndrome type 10"], "xref": ["GARD:0016180", "MEDGEN:934713", "OMIM:617050", "Orphanet:664511", "UMLS:C4310746"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014886", "name": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRT55", "intellectual disability, autosomal recessive 55", "intellectual disability, autosomal recessive type 55", "mental retardation, autosomal recessive 55", "mental retardation, autosomal recessive type 55", "neurodevelopmental disorder with microcephaly and gray sclerae", "neurodevelopmental disorder with microcephaly and grey sclerae"], "xref": ["GARD:0017895", "MEDGEN:934712", "OMIM:617051", "Orphanet:488627", "UMLS:C4310745"]}
{"category": ["biolink:Disease"], "description": "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.", "id": "MONDO:0014887", "name": "Bone marrow failure syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BMFS3", "DNAJC21 bone marrow failure syndrome", "DNAJC21-related bone marrow failure syndrome", "bone marrow failure syndrome 3", "bone marrow failure syndrome caused by mutation in DNAJC21", "bone marrow failure syndrome type 3"], "xref": ["GARD:0025030", "MEDGEN:934711", "OMIM:617052", "UMLS:C4310744"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.", "id": "MONDO:0014888", "name": "Mirage syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MIRAGE", "mirage", "mirage syndrome", "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy", "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome", "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"], "xref": ["GARD:0013108", "MEDGEN:924576", "NCIT:C147530", "OMIM:617053", "Orphanet:494433", "UMLS:C4284088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014889", "name": "Striatonigral degeneration, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lenk-Ploski syndrome", "SNDC", "childhood-onset basal ganglia degeneration syndrome", "striatonigral Degeneration, childhood-onset", "striatonigral degeneration, childhood-onset"], "xref": ["GARD:0017918", "MEDGEN:934710", "OMIM:617054", "Orphanet:497906", "UMLS:C4310743"]}
{"category": ["biolink:Disease"], "description": "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.", "id": "MONDO:0014890", "name": "Perching syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CISS3", "KLHL7 cold-induced sweating syndrome", "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome", "PERCHING", "cold-induced sweating syndrome caused by mutation in KLHL7", "cold-induced sweating syndrome type 3"], "xref": ["DOID:0080331", "GARD:0018278", "MEDGEN:934709", "OMIM:617055", "Orphanet:603684", "UMLS:C4310742"]}
{"category": ["biolink:Disease"], "description": "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.", "id": "MONDO:0014891", "name": "Hyperuricemic nephropathy, familial juvenile type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADTKD-SEC61A1", "HNFJ4", "SEC61A1 familial juvenile hyperuricemic nephropathy", "SEC61A1-related autosomal dominant tubulointerstitial kidney disease", "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1", "hyperuricemic nephropathy, familial juvenile, 4", "hyperuricemic nephropathy, familial juvenile, type 4", "tubulointerstitial kidney disease, autosomal dominant, 5"], "xref": ["DOID:0061120", "MEDGEN:934708", "OMIM:617056", "UMLS:C4310741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014892", "name": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEBAS", "MRD44", "autosomal dominant intellectual disability 44", "intellectual developmental disorder, autosomal dominant 44, with microcephaly", "mercer-Ba syndrome"], "xref": ["DOID:0070074", "GARD:0017850", "MEDGEN:934707", "OMIM:617061", "Orphanet:476126", "UMLS:C4310740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014893", "name": "Okur-chung neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCNDS", "Okur-Chung neurodevelopmental syndrome"], "xref": ["GARD:0015008", "MEDGEN:934706", "OMIM:617062", "Orphanet:689422", "UMLS:C4310739"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.", "id": "MONDO:0014894", "name": "Meier-gorlin syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDC45 Meier-Gorlin syndrome", "MGORS7", "Meier-Gorlin syndrome 7", "Meier-Gorlin syndrome caused by mutation in CDC45", "Meier-Gorlin syndrome type 7"], "xref": ["DOID:0080518", "GARD:0016181", "MEDGEN:934705", "OMIM:617063", "UMLS:C4310738"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.", "id": "MONDO:0014895", "name": "Developmental and epileptic encephalopathy, 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE40", "EIEE40", "GUF1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 40", "early infantile epileptic encephalopathy caused by mutation in GUF1", "epileptic encephalopathy, early infantile, 40", "epileptic encephalopathy, early infantile, type 40"], "xref": ["DOID:0080427", "GARD:0016182", "MEDGEN:934704", "OMIM:617065", "UMLS:C4310737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014896", "name": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MDCDC", "congenital muscular dystrophy, Davignon-Chauveau type", "muscular dystrophy, congenital, Davignon-Chauveau type"], "xref": ["GARD:0017883", "MEDGEN:934703", "OMIM:617066", "Orphanet:486815", "UMLS:C4310736"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.", "id": "MONDO:0014898", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEOB3", "TK2 autosomal recessive progressive external ophthalmoplegia", "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3"], "xref": ["DOID:0111523", "GARD:0016183", "MEDGEN:934701", "OMIM:617069", "UMLS:C4310734"]}
{"category": ["biolink:Disease"], "description": "An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.", "id": "MONDO:0014899", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEOB4", "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4"], "xref": ["DOID:0111516", "GARD:0017501", "MEDGEN:934700", "OMIM:617070", "Orphanet:329314", "SCTID:733599009", "UMLS:C4310733"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.", "id": "MONDO:0014900", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2y", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD2Y", "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1", "autosomal recessive muscular dystrophy due to LAP1B deficiency", "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency", "muscular dystrophy with progressive weakness, distal contractures and rigid spine", "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"], "xref": ["DOID:0110289", "GARD:0017708", "MEDGEN:1385152", "NCIT:C181000", "OMIM:617072", "Orphanet:424261", "SCTID:725907002", "UMLS:C4511482"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.", "id": "MONDO:0014901", "name": "Tooth agenesis, selective, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STHAG8", "WNT10B tooth agenesis", "tooth agenesis caused by mutation in WNT10B", "tooth agenesis, selective, 8", "tooth agenesis, selective, type 8"], "xref": ["GARD:0018250", "MEDGEN:934697", "OMIM:617073", "UMLS:C4310730"]}
{"category": ["biolink:Disease"], "description": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.", "id": "MONDO:0014902", "name": "Nasopharyngeal carcinoma, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["MST1R nasopharyngeal carcinoma", "NPCA3", "nasopharyngeal carcinoma caused by mutation in MST1R", "nasopharyngeal carcinoma, susceptibility to, 3", "nasopharyngeal carcinoma, susceptibility to, type 3"], "xref": ["GARD:0027863", "MEDGEN:934696", "OMIM:617075", "UMLS:C4310729"]}
{"category": ["biolink:Disease"], "description": "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.", "id": "MONDO:0014903", "name": "Seizures, benign familial infantile, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BFIS5", "SCN8A benign familial infantile epilepsy", "benign familial infantile epilepsy caused by mutation in SCN8A", "seizures, benign familial infantile, 5", "seizures, benign familial infantile, type 5"], "xref": ["DOID:0081118", "GARD:0016506", "MEDGEN:934695", "OMIM:617080", "UMLS:C4310728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014904", "name": "Congenital disorder of glycosylation, type iaa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDG1AA", "congenital disorder of glycosylation, type 1aa", "congenital disorder of glycosylation, type IAA"], "xref": ["DOID:0080553", "GARD:0025031", "MEDGEN:934694", "OMIM:617082", "UMLS:C4310727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014905", "name": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["EMPF2", "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome", "MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect", "encephalopathy due to defective mitochondrial and peroxisomal fission 2", "encephalopathy due to defective mitochondrial and peroxisomal fission type 2"], "xref": ["DOID:0060994", "GARD:0017881", "MEDGEN:934693", "OMIM:617086", "Orphanet:485421", "UMLS:C4310726"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.", "id": "MONDO:0014906", "name": "Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b;", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease type 2A2B"], "xref": ["DOID:0111557", "GARD:0025032", "MEDGEN:934692", "NCIT:C150647", "OMIM:617087", "UMLS:C4310725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014907", "name": "Short-rib thoracic dysplasia 15 with polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRTD15", "short-rib thoracic dysplasia 15 with polydactyly"], "xref": ["GARD:0016185", "MEDGEN:934691", "OMIM:617088", "UMLS:C4310724"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.", "id": "MONDO:0014908", "name": "Microcephaly 17, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CIT autosomal recessive primary microcephaly", "MCPH17", "autosomal recessive primary microcephaly caused by mutation in CIT", "autosomal recessive primary microcephaly caused by mutation in cit", "cit autosomal recessive primary microcephaly", "microcephaly 17, primary, autosomal recessive"], "xref": ["DOID:0070288", "GARD:0016186", "MEDGEN:934690", "OMIM:617090", "UMLS:C4310723"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.", "id": "MONDO:0014909", "name": "Primary ciliary dyskinesia 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD34", "DNAJB13 primary ciliary dyskinesia", "ciliary dyskinesia, primary, 34", "ciliary dyskinesia, primary, type 34", "primary ciliary dyskinesia caused by mutation in DNAJB13", "primary ciliary dyskinesia type 34"], "xref": ["DOID:0110610", "GARD:0016187", "MEDGEN:934689", "OMIM:617091", "UMLS:C4310722"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.", "id": "MONDO:0014910", "name": "Primary ciliary dyskinesia 35", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD35", "TTC25 primary ciliary dyskinesia", "ciliary dyskinesia, primary, 35", "ciliary dyskinesia, primary, type 35", "primary ciliary dyskinesia caused by mutation in TTC25", "primary ciliary dyskinesia type 35"], "xref": ["DOID:0110620", "GARD:0016188", "MEDGEN:934688", "OMIM:617092", "UMLS:C4310721"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.", "id": "MONDO:0014911", "name": "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GRIDHH", "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "growth retardation, impaired intellectual development, hypotonia, and hepatopathy", "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"], "xref": ["GARD:0017980", "MEDGEN:934687", "OMIM:617093", "Orphanet:541423", "UMLS:C4310720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014912", "name": "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIPDS", "ORAS", "otulin deficiency", "otulin-related autoinflammatory syndrome", "otulipenia"], "xref": ["DOID:0080163", "GARD:0013198", "MEDGEN:934581", "OMIM:617099", "Orphanet:500062", "SCTID:765435009", "UMLS:C4310614"]}
{"category": ["biolink:Disease"], "description": "Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.", "id": "MONDO:0014914", "name": "Dias-logan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["BCL11A-related BAFopathy", "DILOS", "Dias-Logan syndrome"], "xref": ["MEDGEN:934800", "OMIM:617101", "UMLS:C4310833"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014915", "name": "Short-rib thoracic dysplasia 16 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRTD16", "short-rib thoracic dysplasia 16 with or without polydactyly"], "xref": ["GARD:0016189", "MEDGEN:934685", "OMIM:617102", "UMLS:C4310718"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.", "id": "MONDO:0014916", "name": "Developmental and epileptic encephalopathy, 41", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE41", "EIEE41", "SLC1A2 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 41", "developmental and epileptic encephalopathy, 41", "early infantile epileptic encephalopathy caused by mutation in SLC1A2", "epileptic encephalopathy, early infantile, 41", "epileptic encephalopathy, early infantile, type 41"], "xref": ["DOID:0080442", "GARD:0016190", "MEDGEN:934684", "OMIM:617105", "UMLS:C4310717"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.", "id": "MONDO:0014917", "name": "Developmental and epileptic encephalopathy, 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CACNA1A early infantile epileptic encephalopathy", "DEE42", "EIEE42", "developmental and epileptic encephalopathy 42", "early infantile epileptic encephalopathy caused by mutation in CACNA1A", "epileptic encephalopathy, early infantile, 42", "epileptic encephalopathy, early infantile, type 42"], "xref": ["DOID:0080454", "GARD:0016191", "MEDGEN:934683", "OMIM:617106", "UMLS:C4310716"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014918", "name": "Tall stature-intellectual disability-renal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TROFAS", "Thauvin-robinet-Faivre syndrome"], "xref": ["GARD:0017921", "MEDGEN:934682", "OMIM:617107", "Orphanet:500095", "UMLS:C4310715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014919", "name": "Sessile serrated polyposis cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SSPCS", "sessile serrated polyposis cancer syndrome"], "xref": ["GARD:0025033", "MEDGEN:934681", "OMIM:617108", "UMLS:C4310714"]}
{"category": ["biolink:Disease"], "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.", "id": "MONDO:0014920", "name": "Patterned macular dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MAPKAPK3 patterned macular dystrophy", "MCRPE", "MDPT3", "Martinique crinkled retinal pigment epitheliopathy", "macular dystrophy, patterned, 3", "macular dystrophy, patterned, type 3", "patterned macular dystrophy caused by mutation in MAPKAPK3", "patterned macular dystrophy type 3"], "xref": ["DOID:0060865", "GARD:0017826", "MEDGEN:934680", "OMIM:617111", "Orphanet:466718", "UMLS:C4310713"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.", "id": "MONDO:0014921", "name": "Developmental and epileptic encephalopathy, 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE43", "EIEE43", "GABRB3 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 43", "early infantile epileptic encephalopathy caused by mutation in GABRB3", "epileptic encephalopathy, early infantile, 43", "epileptic encephalopathy, early infantile, type 43"], "xref": ["DOID:0080447", "GARD:0016192", "MEDGEN:934679", "OMIM:617113", "UMLS:C4310712"]}
{"category": ["biolink:Disease"], "description": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.", "id": "MONDO:0014922", "name": "Myofibrillar myopathy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KY myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in KY", "myopathy, myofibrillar, 7", "myopathy, myofibrillar, type 7"], "xref": ["DOID:0080098", "GARD:0025034", "MEDGEN:934678", "OMIM:617114", "UMLS:C4310711"]}
{"category": ["biolink:Disease"], "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.", "id": "MONDO:0014923", "name": "Peeling skin syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PSS5", "SERPINB8 peeling skin syndrome", "peeling skin syndrome 5", "peeling skin syndrome caused by mutation in SERPINB8", "peeling skin syndrome type 5"], "xref": ["DOID:0070524", "GARD:0018427", "MEDGEN:934677", "OMIM:617115", "UMLS:C4310710"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.", "id": "MONDO:0014924", "name": "Epilepsy, familial focal, with variable foci 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FFEVF2", "NPRL2 epilepsy, familial focal, with variable foci", "epilepsy, familial focal, with variable foci 2", "epilepsy, familial focal, with variable foci caused by mutation in NPRL2", "epilepsy, familial focal, with variable foci type 2"], "xref": ["DOID:0081422", "GARD:0018203", "MEDGEN:934676", "OMIM:617116", "UMLS:C4310709"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.", "id": "MONDO:0014925", "name": "Epilepsy, familial focal, with variable foci 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FFEVF3", "NPRL3 epilepsy, familial focal, with variable foci", "epilepsy, familial focal, with variable foci 3", "epilepsy, familial focal, with variable foci caused by mutation in NPRL3", "epilepsy, familial focal, with variable foci type 3"], "xref": ["DOID:0081423", "GARD:0018204", "MEDGEN:934675", "OMIM:617118", "UMLS:C4310708"]}
{"category": ["biolink:Disease"], "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.", "id": "MONDO:0014926", "name": "Bardet-biedl syndrome 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Bardet-Biedl syndrome caused by mutation in IFT74", "IFT74 Bardet-Biedl syndrome"], "xref": ["DOID:0081011", "GARD:0016193", "MEDGEN:1794146", "OMIM:617119", "UMLS:C5561936"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.", "id": "MONDO:0014927", "name": "Joubert syndrome 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["B9D1 Joubert syndrome", "JBTS27", "Joubert syndrome 27", "Joubert syndrome caused by mutation in B9D1", "Joubert syndrome type 27"], "xref": ["DOID:0110996", "GARD:0016194", "MEDGEN:934673", "OMIM:617120", "UMLS:C4310706"]}
{"category": ["biolink:Disease"], "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.", "id": "MONDO:0014928", "name": "Joubert syndrome 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS28", "Joubert syndrome 28", "Joubert syndrome caused by mutation in MKS1", "Joubert syndrome type 28", "MKS1 Joubert syndrome"], "xref": ["DOID:0110997", "GARD:0016195", "MEDGEN:934672", "OMIM:617121", "UMLS:C4310705"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.", "id": "MONDO:0014929", "name": "Retinitis pigmentosa 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POMGNT1 retinitis pigmentosa", "RP76", "retinitis pigmentosa 76", "retinitis pigmentosa caused by mutation in POMGNT1", "retinitis pigmentosa type 76"], "xref": ["DOID:0061103", "GARD:0016196", "MEDGEN:934671", "OMIM:617123", "UMLS:C4310704"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.", "id": "MONDO:0014930", "name": "Intellectual disability, autosomal recessive 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRT56", "ZC3H14 autosomal recessive non-syndromic intellectual disability", "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14", "intellectual developmental disorder, autosomal recessive 56", "intellectual disability, autosomal recessive 56", "intellectual disability, autosomal recessive type 56", "mental retardation, autosomal recessive 56", "mental retardation, autosomal recessive type 56"], "xref": ["DOID:0081217", "GARD:0022574", "MEDGEN:934670", "OMIM:617125", "UMLS:C4310703"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014931", "name": "Alazami-yuan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALYUS", "Alazami-Yuan syndrome"], "xref": ["MEDGEN:934669", "OMIM:617126", "Orphanet:694946", "UMLS:C4310702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014932", "name": "Orofaciodigital syndrome xv", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OFD15", "orofaciodigital syndrome XV", "orofaciodigital syndrome type XV"], "xref": ["GARD:0016197", "MEDGEN:934668", "OMIM:617127", "UMLS:C4310701"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.", "id": "MONDO:0014933", "name": "Developmental and epileptic encephalopathy, 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE44", "EIEE44", "UBA5 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 44", "early infantile epileptic encephalopathy caused by mutation in UBA5", "epileptic encephalopathy, early infantile, 44", "epileptic encephalopathy, early infantile, type 44"], "xref": ["DOID:0080424", "GARD:0016198", "MEDGEN:934667", "OMIM:617132", "UMLS:C4310700"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.", "id": "MONDO:0014934", "name": "Spinocerebellar ataxia, autosomal recessive 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCAR24", "UBA5 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in UBA5", "spinocerebellar ataxia, autosomal recessive 24", "spinocerebellar ataxia, autosomal recessive type 24"], "xref": ["DOID:0111615", "GARD:0025035", "MEDGEN:934666", "OMIM:617133", "UMLS:C4310699"]}
{"category": ["biolink:Disease"], "description": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.", "id": "MONDO:0014935", "name": "Frontometaphyseal dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FMD2", "Frontometaphyseal dysplasia 2", "Frontometaphyseal dysplasia type 2", "MAP3K7 frontometaphyseal dysplasia", "frontometaphyseal dysplasia 2", "frontometaphyseal dysplasia caused by mutation in MAP3K7"], "xref": ["DOID:0111787", "GARD:0016199", "MEDGEN:934664", "OMIM:617137", "UMLS:C4310697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014936", "name": "Zttk syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TOKIMS", "Tokita-Kim syndrome", "ZTTK syndrome"], "xref": ["DOID:0060953", "GARD:0013489", "MEDGEN:934663", "OMIM:617140", "Orphanet:500150", "UMLS:C4310696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014937", "name": "Aniridia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AN2", "aniridia 2", "aniridia type 2"], "xref": ["GARD:0016200", "MEDGEN:138010", "MESH:C536372", "OMIM:617141", "SCTID:253232000", "UMLS:C0344543"]}
{"category": ["biolink:Disease"], "description": "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.", "id": "MONDO:0014938", "name": "Aniridia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AN3", "TRIM44 isolated aniridia", "aniridia 3", "aniridia type 3", "isolated aniridia caused by mutation in TRIM44"], "xref": ["GARD:0016201", "MEDGEN:934662", "OMIM:617142", "UMLS:C4310695"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.", "id": "MONDO:0014939", "name": "Congenital myasthenic syndrome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS20", "SLC5A7 congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in SLC5A7", "congenital myasthenic syndrome type 20", "myasthenic syndrome, congenital, 20, presynaptic"], "xref": ["DOID:0110661", "GARD:0016202", "MEDGEN:934661", "OMIM:617143", "UMLS:C4310694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014940", "name": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NADGP", "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"], "xref": ["DOID:0081364", "GARD:0027264", "MEDGEN:934660", "OMIM:617145", "UMLS:C4310693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014941", "name": "Arthrogryposis, distal, with impaired proprioception and touch", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DAIPT", "arthrogryposis, distal, with impaired proprioception and touch"], "xref": ["GARD:0025036", "MEDGEN:934659", "OMIM:617146", "UMLS:C4310692"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.", "id": "MONDO:0014942", "name": "Developmental and epileptic encephalopathy, 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE45", "EIEE45", "GABRB1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 45", "early infantile epileptic encephalopathy caused by mutation in GABRB1", "epileptic encephalopathy, early infantile, 45", "epileptic encephalopathy, early infantile, type 45"], "xref": ["DOID:0080428", "GARD:0016203", "MEDGEN:934658", "OMIM:617153", "UMLS:C4310691"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.", "id": "MONDO:0014943", "name": "Mitochondrial dna depletion syndrome 15 (hepatocerebral type)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TFAM mitochondrial DNA depletion syndrome", "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)", "mitochondrial DNA depletion syndrome caused by mutation in TFAM"], "xref": ["DOID:0080337", "GARD:0025037", "MEDGEN:934657", "OMIM:617156", "UMLS:C4310690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014944", "name": "Short stature-brachydactyly-obesity-global developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SBIDDS", "short stature, brachydactyly, intellectual developmental disability, and seizures"], "xref": ["GARD:0017817", "MEDGEN:934656", "OMIM:617157", "Orphanet:464288", "UMLS:C4310689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014945", "name": "Myopathy, distal, with rimmed vacuoles", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DMRV", "myopathy, distal, with rimmed vacuoles"], "xref": ["DOID:0081363", "GARD:0016204", "MEDGEN:1728314", "NANDO:1200218", "OMIM:617158", "UMLS:C5399975"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males).", "id": "MONDO:0014946", "name": "Sifrim-hitz-weiss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHD4-related neurodevelopmental disorder", "SIHIWES", "Sifrim-Hitz-Weiss syndrome"], "xref": ["DOID:0070529", "GARD:0025038", "MEDGEN:934655", "OMIM:617159", "Orphanet:653712", "UMLS:C4310688"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.", "id": "MONDO:0014947", "name": "Developmental and epileptic encephalopathy, 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE46", "EIEE46", "GRIN2D early infantile epileptic encephalopathy", "GRIN2D-related DEE", "GRIN2D-related complex neurodevelopmental disorder", "GRIN2D-related developmental and epileptic encephalopathy", "developmental and epileptic encephalopathy 46", "early infantile epileptic encephalopathy caused by mutation in GRIN2D", "epileptic encephalopathy, early infantile, 46", "epileptic encephalopathy, early infantile, type 46"], "xref": ["DOID:0080456", "GARD:0016205", "MEDGEN:934654", "OMIM:617162", "UMLS:C4310687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014948", "name": "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SRMMD", "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"], "xref": ["GARD:0027128", "MEDGEN:934653", "OMIM:617164", "Orphanet:659702", "UMLS:C4310686"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.", "id": "MONDO:0014949", "name": "Developmental and epileptic encephalopathy, 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE47", "EIEE47", "FGF12 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 47", "early infantile epileptic encephalopathy caused by mutation in FGF12", "epileptic encephalopathy, early infantile, 47", "epileptic encephalopathy, early infantile, type 47"], "xref": ["DOID:0080425", "GARD:0016206", "MEDGEN:934652", "OMIM:617166", "UMLS:C4310685"]}
{"category": ["biolink:Disease"], "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.", "id": "MONDO:0014950", "name": "Aortic aneurysm, familial thoracic 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAT10", "LOX familial thoracic aortic aneurysm and aortic dissection", "aortic aneurysm, familial thoracic 10", "aortic aneurysm, familial thoracic type 10", "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX"], "xref": ["GARD:0016207", "MEDGEN:924785", "OMIM:617168", "UMLS:C4284414"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.", "id": "MONDO:0014951", "name": "Intellectual developmental disorder, autosomal recessive 74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["APC2 Sotos syndrome", "Sotos syndrome caused by mutation in APC2", "Sotos syndrome type 3", "intellectual developmental disorder, autosomal recessive 74"], "xref": ["DOID:0081218", "DOID:0112104", "GARD:0016208", "MEDGEN:934651", "OMIM:617169", "UMLS:C4310684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014952", "name": "Intellectual disability-epilepsy-extrapyramidal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"], "xref": ["GARD:0013474", "MEDGEN:934650", "OMIM:617171", "Orphanet:468620", "UMLS:C4310683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014953", "name": "Gnb5-related intellectual disability-cardiac arrhythmia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IDDCA", "intellectual developmental disorder with cardiac arrhythmia"], "xref": ["DOID:0081008", "GARD:0017982", "MEDGEN:1800300", "OMIM:617173", "Orphanet:542306", "UMLS:C5568877"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014954", "name": "Ehlers-danlos syndrome, periodontal type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080987", "GARD:0016209", "MEDGEN:934648", "OMIM:617174", "UMLS:C4310681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014955", "name": "Rcbtb1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RCBTB1-related retinopathy", "RDEOA", "retinal dystrophy with or without extraocular anomalies"], "xref": ["GARD:0018241", "MEDGEN:934647", "OMIM:617175", "UMLS:C4310680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014956", "name": "Chitayat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CHYTS", "Chitayat syndrome"], "xref": ["MEDGEN:934646", "OMIM:617180", "UMLS:C4310679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014957", "name": "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LADCI", "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia", "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia", "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia"], "xref": ["MEDGEN:934645", "OMIM:617182", "UMLS:C4310678"]}
{"category": ["biolink:Disease"], "description": "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.", "id": "MONDO:0014958", "name": "Harel-yoon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HAYOS", "Harel-Yoon syndrome", "optic atrophy-peripheral neuropathy-developmental delay syndrome"], "xref": ["DOID:0081395", "GARD:0017915", "MEDGEN:934644", "OMIM:617183", "Orphanet:496790", "UMLS:C4310677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014959", "name": "Mitochondrial dna depletion syndrome 12a (cardiomyopathic type), autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MTDPS12A", "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD", "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant"], "xref": ["DOID:0080130", "GARD:0025039", "MEDGEN:934643", "OMIM:617184", "UMLS:C4310676"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014960", "name": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEBEL", "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy", "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy"], "xref": ["EFO:0009158", "GARD:0025040", "OMIMPS:617186"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.", "id": "MONDO:0014961", "name": "Spermatogenic failure 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF16", "SUN5 azoospermia", "azoospermia caused by mutation in SUN5", "spermatogenic failure 16", "spermatogenic failure type 16"], "xref": ["DOID:0070184", "MEDGEN:934641", "OMIM:617187", "UMLS:C4310674"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.", "id": "MONDO:0014962", "name": "Intellectual disability, autosomal recessive 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MBOAT7 autosomal recessive non-syndromic intellectual disability", "MRT57", "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7", "intellectual developmental disorder, autosomal recessive 57", "intellectual disability, autosomal recessive 57", "intellectual disability, autosomal recessive type 57", "mental retardation, autosomal recessive 57", "mental retardation, autosomal recessive type 57"], "xref": ["DOID:0081219", "GARD:0022575", "MEDGEN:934640", "OMIM:617188", "UMLS:C4310673"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014963", "name": "Shashi-pena syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHAPNS", "Shashi-Pena syndrome"], "xref": ["GARD:0027359", "MEDGEN:934639", "OMIM:617190", "Orphanet:689408", "UMLS:C4310672"]}
{"category": ["biolink:Disease"], "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.", "id": "MONDO:0014965", "name": "Lethal congenital contracture syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GLDN lethal congenital contracture syndrome", "LCCS11", "lethal congenital contracture syndrome 11", "lethal congenital contracture syndrome caused by mutation in GLDN", "lethal congenital contracture syndrome type 11"], "xref": ["DOID:0061267", "GARD:0013220", "MEDGEN:934637", "OMIM:617194", "UMLS:C4310670"]}
{"category": ["biolink:Disease"], "description": "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.", "id": "MONDO:0014966", "name": "Periventricular nodular heterotopia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NEDD4L periventricular nodular heterotopia", "PVNH7", "periventricular nodular heterotopia 7", "periventricular nodular heterotopia caused by mutation in NEDD4L", "periventricular nodular heterotopia type 7"], "xref": ["DOID:0061270", "GARD:0016210", "MEDGEN:934636", "OMIM:617201", "UMLS:C4310669"]}
{"category": ["biolink:Disease"], "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.", "id": "MONDO:0014967", "name": "Heterotaxy, visceral, 8, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HTX8", "PKD1L1 visceral heterotaxy", "heterotaxy, visceral, 8, autosomal", "visceral heterotaxy caused by mutation in PKD1L1"], "xref": ["DOID:0051022", "GARD:0025041", "MEDGEN:934635", "OMIM:617205", "UMLS:C4310668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014968", "name": "Encephalopathy, progressive, with amyotrophy and optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEAMO", "encephalopathy, progressive, with amyotrophy and optic atrophy"], "xref": ["GARD:0027864", "MEDGEN:934634", "OMIM:617207", "UMLS:C4310667"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014969", "name": "Isolated sedoheptulokinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SHPKD", "isolated SHPK deficiency", "sedoheptulokinase deficiency"], "xref": ["GARD:0018652", "ICD9:277.6", "MEDGEN:713680", "OMIM:617213", "Orphanet:440713", "SCTID:124309005", "UMLS:C1291373"]}
{"category": ["biolink:Disease"], "description": "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.", "id": "MONDO:0014970", "name": "Spermatogenic failure 17", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PLCZ1 azoospermia", "SPGF17", "azoospermia caused by mutation in PLCZ1", "spermatogenic failure 17", "spermatogenic failure type 17"], "xref": ["DOID:0070174", "MEDGEN:934633", "OMIM:617214", "UMLS:C4310666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014971", "name": "Amelogenesis imperfecta, hypomaturation type, iia6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI2A6", "amelogenesis imperfecta, hypomaturation type, IIa6"], "xref": ["DOID:0080960", "GARD:0016211", "MEDGEN:934632", "OMIM:617217", "UMLS:C4310665"]}
{"category": ["biolink:Disease"], "description": "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.", "id": "MONDO:0014972", "name": "Chromosome 19q13.11 deletion syndrome, proximal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025042", "MEDGEN:935013", "OMIM:617219", "UMLS:C4311046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014973", "name": "Sudden cardiac failure, infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PPA2-associated sudden cardiac death", "SCFI", "infantile sudden cardiac failure", "sudden Cardiac failure, infantile", "sudden cardiac failure, infantile"], "xref": ["GARD:0027056", "MEDGEN:934631", "OMIM:617222", "UMLS:C4310664"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014974", "name": "Sudden cardiac failure, alcohol-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCFAI", "sudden Cardiac failure, alcohol-induced", "sudden cardiac failure, alcohol-induced"], "xref": ["MEDGEN:934630", "OMIM:617223", "UMLS:C4310663"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.", "id": "MONDO:0014975", "name": "Autosomal recessive spastic paraplegia type 78", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP13A2 hereditary spastic paraplegia", "SPG78", "hereditary spastic paraplegia caused by mutation in ATP13A2", "spastic paraplegia 78, autosomal recessive"], "xref": ["DOID:0112348", "GARD:0017952", "MEDGEN:1799316", "OMIM:617225", "Orphanet:513436", "UMLS:C5567893"]}
{"category": ["biolink:Disease"], "description": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.", "id": "MONDO:0014976", "name": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COXPD31", "MIPEP combined oxidative phosphorylation deficiency", "combined oxidative phosphorylation deficiency 31", "combined oxidative phosphorylation deficiency caused by mutation in MIPEP", "combined oxidative phosphorylation deficiency type 31"], "xref": ["DOID:0111488", "GARD:0017865", "MEDGEN:934628", "OMIM:617228", "Orphanet:478049", "UMLS:C4310661"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.", "id": "MONDO:0014977", "name": "Autosomal recessive limb-girdle muscular dystrophy type 2r1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LGMD2Z", "POGLUT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1", "autosomal recessive limb-girdle muscular dystrophy type 2Z", "limb-girdle muscular dystrophy type 2Z", "muscular dystrophy, limb-girdle, autosomal recessive 21", "muscular dystrophy, limb-girdle, type 2Z"], "xref": ["DOID:0080762", "GARD:0017869", "MEDGEN:934627", "NCIT:C142082", "OMIM:617232", "Orphanet:480682", "UMLS:C4310660"]}
{"category": ["biolink:Disease"], "description": "A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth.", "id": "MONDO:0014979", "name": "Myoclonus, intractable, neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NEIMY", "myoclonus, intractable, neonatal"], "xref": ["MEDGEN:934625", "OMIM:617235", "UMLS:C4310658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014980", "name": "Cone-rod dystrophy and hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CRDHL", "cone-rod dystrophy and hearing loss"], "xref": ["OMIMPS:617236"]}
{"category": ["biolink:Disease"], "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.", "id": "MONDO:0014981", "name": "Immunodeficiency 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BCL11B primary immunodeficiency disease", "IMD49", "immunodeficiency 49", "immunodeficiency type 49", "primary immunodeficiency disease caused by mutation in BCL11B"], "xref": ["DOID:0111979", "GARD:0025043", "MEDGEN:934623", "OMIM:617237", "UMLS:C4310656"]}
{"category": ["biolink:Disease"], "description": "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.", "id": "MONDO:0014982", "name": "Myopia 25, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP25", "P4HA2 myopia (disease)", "myopia (disease) caused by mutation in P4HA2", "myopia 25, autosomal dominant"], "xref": ["MEDGEN:934622", "OMIM:617238", "UMLS:C4310655"]}
{"category": ["biolink:Disease"], "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.", "id": "MONDO:0014983", "name": "Congenital myasthenic syndrome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS21", "SLC18A3 congenital myasthenic syndrome", "congenital myasthenic syndrome caused by mutation in SLC18A3", "congenital myasthenic syndrome type 21", "myasthenic syndrome, congenital, 21, presynaptic"], "xref": ["DOID:0110672", "GARD:0016212", "MEDGEN:934621", "OMIM:617239", "UMLS:C4310654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014984", "name": "Lung disease, immunodeficiency, and chromosome breakage syndrome;", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:934620", "OMIM:617241", "UMLS:C4310653"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", "id": "MONDO:0014985", "name": "Fanconi anemia complementation group v", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCV", "Fanconi Anemia, complementation group V", "Fanconi Anemia, complementation group type V", "Fanconi anaemia caused by mutation in MAD2L2", "Fanconi anaemia complementation group type V", "Fanconi anemia caused by mutation in MAD2L2", "Fanconi anemia complementation group type V", "MAD2L2 Fanconi anaemia", "MAD2L2 Fanconi anemia"], "xref": ["DOID:0111080", "GARD:0016213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", "id": "MONDO:0014986", "name": "Fanconi anemia complementation group r", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCR", "Fanconi Anemia, complementation group R", "Fanconi Anemia, complementation group type R", "Fanconi anaemia caused by mutation in RAD51", "Fanconi anaemia complementation group type R", "Fanconi anemia caused by mutation in RAD51", "Fanconi anemia complementation group type R", "RAD51 Fanconi anaemia", "RAD51 Fanconi anemia"], "xref": ["DOID:0111090", "GARD:0016214", "MEDGEN:924579", "OMIM:617244", "UMLS:C4284093"]}
{"category": ["biolink:Disease"], "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", "id": "MONDO:0014987", "name": "Fanconi anemia complementation group u", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCU", "Fanconi Anemia, complementation group U", "Fanconi Anemia, complementation group type U", "Fanconi anaemia caused by mutation in XRCC2", "Fanconi anaemia complementation group type U", "Fanconi anemia caused by mutation in XRCC2", "Fanconi anemia complementation group type U", "XRCC2 Fanconi anaemia", "XRCC2 Fanconi anemia"], "xref": ["DOID:0111085", "GARD:0016215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"]}
{"category": ["biolink:Disease"], "description": "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.", "id": "MONDO:0014989", "name": "Uncombable hair syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TGM3 uncombable hair syndrome", "UHS2", "uncombable hair syndrome 2", "uncombable hair syndrome caused by mutation in TGM3", "uncombable hair syndrome type 2"], "xref": ["GARD:0016216", "MEDGEN:934616", "OMIM:617251", "UMLS:C4310649"]}
{"category": ["biolink:Disease"], "description": "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.", "id": "MONDO:0014990", "name": "Uncombable hair syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TCHH uncombable hair syndrome", "UHS3", "uncombable hair syndrome 3", "uncombable hair syndrome caused by mutation in TCHH", "uncombable hair syndrome type 3"], "xref": ["GARD:0016217", "MEDGEN:934615", "OMIM:617252", "UMLS:C4310648"]}
{"category": ["biolink:Disease"], "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.", "id": "MONDO:0014991", "name": "Seckel syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NSMCE2 Seckel syndrome", "SCKL10", "Seckel syndrome 10", "Seckel syndrome caused by mutation in NSMCE2", "Seckel syndrome type 10"], "xref": ["DOID:0070008", "GARD:0018484", "MEDGEN:934614", "OMIM:617253", "UMLS:C4310647"]}
{"category": ["biolink:Disease"], "description": "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.", "id": "MONDO:0014992", "name": "Lissencephaly 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LIS8", "TMTC3 lissencephaly (disease)", "lissencephaly (disease) caused by mutation in TMTC3", "lissencephaly 8", "lissencephaly type 8"], "xref": ["DOID:0112233", "GARD:0025044", "MEDGEN:934613", "OMIM:617255", "UMLS:C4310646"]}
{"category": ["biolink:Disease"], "description": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.", "id": "MONDO:0014993", "name": "Myofibrillar myopathy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PYROXD1 myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in PYROXD1", "myofibrillar myopathy 8", "myopathy, myofibrillar, 8", "myopathy, myofibrillar, type 8"], "xref": ["DOID:0080308", "GARD:0025045", "MEDGEN:934612", "OMIM:617258", "UMLS:C4310645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014994", "name": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GDACCF", "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"], "xref": ["MEDGEN:934611", "OMIM:617260", "UMLS:C4310644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014995", "name": "Neurodevelopmental disorder with hypotonia, seizures, and absent language", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NDHSAL", "neurodevelopmental disorder with hypotonia, seizures, and absent language"], "xref": ["MEDGEN:934610", "OMIM:617268", "UMLS:C4310643"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.", "id": "MONDO:0014996", "name": "Intellectual disability, autosomal recessive 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ELP2 autosomal recessive non-syndromic intellectual disability", "MRT58", "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2", "intellectual developmental disorder, autosomal recessive 58", "intellectual disability, autosomal recessive 58", "intellectual disability, autosomal recessive type 58", "mental retardation, autosomal recessive 58", "mental retardation, autosomal recessive type 58"], "xref": ["DOID:0081220", "GARD:0013361", "MEDGEN:934608", "OMIM:617270", "UMLS:C4310641"]}
{"category": ["biolink:Disease"], "description": "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.", "id": "MONDO:0014997", "name": "Nephronophthisis 20", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MAPKBP1 nephronophthisis (disease)", "NPHP20", "nephronophthisis (disease) caused by mutation in MAPKBP1", "nephronophthisis 20", "nephronophthisis type 20"], "xref": ["DOID:0111127", "GARD:0018181", "MEDGEN:934607", "OMIM:617271", "UMLS:C4310640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0014998", "name": "Glaucoma 3, primary congenital, e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC3E", "glaucoma 3, primary congenital, E", "glaucoma 3, primary congenital, type E"], "xref": ["GARD:0018227", "MEDGEN:934606", "OMIM:617272", "UMLS:C4310639"]}
{"category": ["biolink:Disease"], "description": "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.", "id": "MONDO:0014999", "name": "Tooth agenesis, selective, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GREM2 tooth agenesis", "STHAG9", "tooth agenesis caused by mutation in GREM2", "tooth agenesis, selective, 9", "tooth agenesis, selective, type 9"], "xref": ["GARD:0025046", "MEDGEN:934605", "OMIM:617275", "UMLS:C4310638"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.", "id": "MONDO:0015000", "name": "Developmental and epileptic encephalopathy, 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AP3B2 early infantile epileptic encephalopathy", "DEE48", "EIEE48", "developmental and epileptic encephalopathy 48", "early infantile epileptic encephalopathy caused by mutation in AP3B2", "epileptic encephalopathy, early infantile, 48", "epileptic encephalopathy, early infantile, type 48"], "xref": ["DOID:0080448", "GARD:0016218", "MEDGEN:934604", "OMIM:617276", "UMLS:C4310637"]}
{"category": ["biolink:Disease"], "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.", "id": "MONDO:0015001", "name": "Atrial fibrillation, familial, 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATFB18", "MYL4 familial atrial fibrillation", "atrial fibrillation, familial, 18", "atrial fibrillation, familial, type 18", "familial atrial fibrillation caused by mutation in MYL4"], "xref": ["GARD:0016219", "MEDGEN:934603", "OMIM:617280", "UMLS:C4310636"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.", "id": "MONDO:0015002", "name": "Developmental and epileptic encephalopathy, 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE49", "DENND5A early infantile epileptic encephalopathy", "EIEE49", "developmental and epileptic encephalopathy 49", "early infantile epileptic encephalopathy caused by mutation in DENND5A", "epileptic encephalopathy, early infantile, 49", "epileptic encephalopathy, early infantile, type 49"], "xref": ["DOID:0080441", "GARD:0025047", "MEDGEN:934602", "OMIM:617281", "UMLS:C4310635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015003", "name": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYTOABG", "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"], "xref": ["DOID:0081419", "GARD:0013488", "MEDGEN:934601", "OMIM:617282", "Orphanet:508093", "UMLS:C4310634"]}
{"category": ["biolink:Disease"], "description": "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.", "id": "MONDO:0015004", "name": "Dystonia 28, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DYT28", "KMT2B dystonic disorder", "dystonia 28, childhood-onset", "dystonic disorder caused by mutation in KMT2B"], "xref": ["DOID:0060936", "EFO:0009301", "GARD:0022359", "MEDGEN:934600", "OMIM:617284", "Orphanet:589618", "UMLS:C4310633"]}
{"category": ["biolink:Disease"], "description": "A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.", "id": "MONDO:0015005", "name": "Epilepsy, early-onset, vitamin b6-dependent", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPVB6D", "epilepsy, early-onset, vitamin B6-dependent"], "xref": ["DOID:0080769", "GARD:0025048", "MEDGEN:934599", "OMIM:617290", "UMLS:C4310632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015006", "name": "Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBSSH", "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss", "epidermolysis bullosa simplex, generalized, with scarring and hair loss", "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss", "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss"], "xref": ["GARD:0017951", "MEDGEN:934598", "OMIM:617294", "Orphanet:508529", "UMLS:C4310631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015007", "name": "Spastic paraplegia, intellectual disability, nystagmus, and obesity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spastic paraplegia, intellectual disability, nystagmus, and obesity"], "xref": ["GARD:0017957", "MEDGEN:924883", "OMIM:617296", "Orphanet:521390", "UMLS:C4284592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015008", "name": "Amelogenesis imperfecta, type 1j", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["amelogenesis imperfecta, type 1J"], "xref": ["DOID:0080953", "EFO:0009302", "GARD:0016220", "MEDGEN:934597", "OMIM:617297", "UMLS:C4310630"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015009", "name": "Lymphatic malformation 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:predisposition", "mondo:rare"], "synonym": ["HFASD", "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to"], "xref": ["GARD:0025049", "MEDGEN:934596", "OMIM:617300", "UMLS:C4310629"]}
{"category": ["biolink:Disease"], "description": "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.", "id": "MONDO:0015010", "name": "Atypical glycine encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["atypical NKA", "atypical non-ketotic hyperglycinemia"], "xref": ["GARD:0017334", "MEDGEN:934910", "OMIM:617301", "Orphanet:289863", "UMLS:C4310943", "icd11.foundation:51420481"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.", "id": "MONDO:0015011", "name": "Optic atrophy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPA11", "YME1L1 autosomal recessive isolated optic atrophy", "autosomal recessive isolated optic atrophy caused by mutation in YME1L1", "optic atrophy 11", "optic atrophy type 11"], "xref": ["DOID:0111436", "GARD:0018201", "MEDGEN:934595", "OMIM:617302", "UMLS:C4310628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015012", "name": "Mucopolysaccharidosis-plus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MPSPS", "mucopolysaccharidosis-like plus disease", "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "mucopolysaccharidosis-plus syndrome"], "xref": ["GARD:0017944", "MEDGEN:934594", "OMIM:617303", "Orphanet:505248", "SCTID:1187113001", "UMLS:C4310627"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.", "id": "MONDO:0015013", "name": "Retinitis pigmentosa 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["REEP6 retinitis pigmentosa", "retinitis pigmentosa 77", "retinitis pigmentosa caused by mutation in REEP6", "retinitis pigmentosa type 77"], "xref": ["DOID:0080350", "GARD:0016221", "MEDGEN:934593", "OMIM:617304", "UMLS:C4310626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015014", "name": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COMMAD", "COMMAD syndrome", "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"], "xref": ["GARD:0018021", "MEDGEN:934592", "OMIM:617306", "Orphanet:603494", "UMLS:C4310625"]}
{"category": ["biolink:Disease"], "description": "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.", "id": "MONDO:0015015", "name": "Congenital bile acid synthesis defect 6", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACOX2 congenital bile acid synthesis defect", "CBAS6", "bile acid synthesis defect, congenital, 6", "bile acid synthesis defect, congenital, type 6", "congenital bile acid synthesis defect caused by mutation in ACOX2", "congenital bile acid synthesis defect type 6"], "xref": ["DOID:0111067", "GARD:0025050", "MEDGEN:934591", "OMIM:617308", "UMLS:C4310624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015016", "name": "Anterior segment dysgenesis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASGD6", "anterior segment dysgenesis 6", "anterior segment dysgenesis 6, multiple subtypes", "anterior segment dysgenesis type 6"], "xref": ["DOID:0080611", "GARD:0025051", "MEDGEN:934590", "OMIM:617315", "UMLS:C4310623"]}
{"category": ["biolink:Disease"], "description": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.", "id": "MONDO:0015017", "name": "Anterior segment dysgenesis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ASGD8", "CPAMD8 anterior segment dysgenesis", "CPAMD8-related anterior segment dysgenesis", "anterior segment dysgenesis 8", "anterior segment dysgenesis caused by mutation in CPAMD8", "anterior segment dysgenesis type 8"], "xref": ["DOID:0080613", "GARD:0017954", "MEDGEN:934589", "OMIM:617319", "Orphanet:519388", "UMLS:C4310622"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.", "id": "MONDO:0015018", "name": "Ichthyosis, congenital, autosomal recessive 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCI12", "ichthyosis, congenital, autosomal recessive 12", "ichthyosis, congenital, autosomal recessive type 12"], "xref": ["GARD:0025052", "MEDGEN:934588", "OMIM:617320", "UMLS:C4310621"]}
{"category": ["biolink:Disease"], "description": "An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.", "id": "MONDO:0015019", "name": "Yao syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:otar", "mondo:predisposition"], "synonym": ["YAOS", "Yao syndrome"], "xref": ["MEDGEN:934587", "OMIM:617321", "SCTID:768667002", "UMLS:C4310620"]}
{"category": ["biolink:Disease"], "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.", "id": "MONDO:0015020", "name": "Intellectual disability, autosomal recessive 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMPA1 autosomal recessive non-syndromic intellectual disability", "MRT59", "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1", "intellectual disability, autosomal recessive 59", "intellectual disability, autosomal recessive type 59", "mental retardation, autosomal recessive 59", "mental retardation, autosomal recessive type 59"], "xref": ["DOID:0081221", "GARD:0025053", "MEDGEN:934586", "OMIM:617323", "UMLS:C4310619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015021", "name": "Hypotonia, ataxia, and delayed development syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EBF3 neurodevelopmental disorder", "HADDS", "developmental delay-ataxia-hypotonia-facial dysmorphism syndrome", "hypotonia, ataxia, and delayed development syndrome"], "xref": ["DOID:0081176", "GARD:0025054", "MEDGEN:934585", "OMIM:617330", "Orphanet:658843", "UMLS:C4310618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015022", "name": "Intellectual developmental disorder with dysmorphic facies and ptosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IDDDFP", "intellectual developmental disorder with dysmorphic facies and ptosis"], "xref": ["MEDGEN:934584", "OMIM:617333", "Orphanet:698090", "UMLS:C4310617"]}
{"category": ["biolink:Disease"], "description": "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.", "id": "MONDO:0015023", "name": "Mypn-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MYPN nemaline myopathy", "MYPN-related myopathy", "NEM11", "nemaline myopathy 11", "nemaline myopathy 11, autosomal recessive", "nemaline myopathy caused by mutation in MYPN", "nemaline myopathy type 11"], "xref": ["DOID:0110933", "GARD:0016222", "MEDGEN:1384302", "OMIM:617336", "UMLS:C4479186"]}
{"category": ["biolink:Disease"], "description": "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.", "id": "MONDO:0015024", "name": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ECTD12", "KDF1 ectodermal dysplasia syndrome", "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type", "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "ectodermal dysplasia syndrome caused by mutation in KDF1"], "xref": ["DOID:0111652", "GARD:0018593", "MEDGEN:934583", "OMIM:617337", "UMLS:C4310616"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.", "id": "MONDO:0015025", "name": "Developmental and epileptic encephalopathy, 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE51", "EIEE51", "MDH2 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 51", "early infantile epileptic encephalopathy caused by mutation in MDH2", "epileptic encephalopathy, early infantile, 51", "epileptic encephalopathy, early infantile, type 51"], "xref": ["DOID:0080433", "GARD:0025055", "MEDGEN:1372686", "OMIM:617339", "UMLS:C4479208"]}
{"category": ["biolink:Disease"], "description": "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.", "id": "MONDO:0015026", "name": "Cerebroretinal microangiopathy with calcifications and cysts 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Coats plus syndrome caused by mutation in STN1", "STN1 Coats plus syndrome", "cerebroretinal microangiopathy with calcifications and cysts 2", "cerebroretinal microangiopathy with calcifications and cysts type 2"], "xref": ["GARD:0018442", "MEDGEN:1390862", "OMIM:617341", "UMLS:C4479220"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.", "id": "MONDO:0015027", "name": "Familial isolated hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FIHP", "FIHPT", "familial isolated hyperparathyroidism"], "xref": ["GARD:0016923", "MEDGEN:1643161", "NCIT:C94830", "Orphanet:99879", "UMLS:C4551961", "icd11.foundation:1799621215"]}
{"category": ["biolink:Disease"], "description": "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.", "id": "MONDO:0015028", "name": "48,xxyy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["48, XXYY Syndrome", "48, XXYY syndrome"], "xref": ["GARD:0005677", "ICD9:758.81", "MEDGEN:422434", "MedDRA:10048230", "NCIT:C89801", "NORD:2038", "Orphanet:10", "SCTID:403760006", "UMLS:C2936741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015029", "name": "Reticular perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019728", "MEDGEN:1842718", "Orphanet:100000", "UMLS:C5681810", "icd11.foundation:9105270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015030", "name": "Sclerosing perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019729", "MEDGEN:1843336", "Orphanet:100001", "UMLS:C5681811", "icd11.foundation:924438028"]}
{"category": ["biolink:Disease"], "description": "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.", "id": "MONDO:0015031", "name": "Extraneural perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["soft tissue perineurioma"], "xref": ["GARD:0019730", "MEDGEN:1643216", "NCIT:C6912", "Orphanet:100002", "SCTID:768926005", "UMLS:C4708595", "icd11.foundation:691853283"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.", "id": "MONDO:0015032", "name": "Intraneural perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intraneural perineurioma", "intraneural perineurioma (WHO grade I)"], "xref": ["DOID:4696", "GARD:0010921", "MEDGEN:237162", "NCIT:C6911", "Orphanet:100003", "SCTID:768934004", "UMLS:C1370658", "icd11.foundation:362421359"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.", "id": "MONDO:0015033", "name": "Abeta amyloidosis, dutch type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABetaE22Q amyloidosis", "HCHWA, Dutch type", "HCHWA-D", "cerebral amyloid angiopathy, APP-related, Dutch variant", "hereditary cerebral haemorrhage with amyloidosis, Dutch type", "hereditary cerebral hemorrhage with amyloidosis, Dutch type"], "xref": ["GARD:0016929", "ICD9:277.39", "MEDGEN:419468", "Orphanet:100006", "SCTID:56453003", "UMLS:C2931672", "icd11.foundation:1251572976"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.", "id": "MONDO:0015034", "name": "Lissencephaly with cerebellar hypoplasia type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019731", "MEDGEN:1679234", "Orphanet:100011", "UMLS:C5191423", "icd11.foundation:853428618"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.", "id": "MONDO:0015035", "name": "Lissencephaly with cerebellar hypoplasia type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019732", "MEDGEN:906879", "Orphanet:100012", "SCTID:715819005", "UMLS:C4274993", "icd11.foundation:1056934902"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.", "id": "MONDO:0015036", "name": "Lissencephaly with cerebellar hypoplasia type c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019733", "MEDGEN:900624", "Orphanet:100013", "SCTID:715820004", "UMLS:C4274992", "icd11.foundation:1837040262"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.", "id": "MONDO:0015037", "name": "Lissencephaly with cerebellar hypoplasia type d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019734", "MEDGEN:895252", "Orphanet:100014", "SCTID:715821000", "UMLS:C4274991", "icd11.foundation:1633599738"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.", "id": "MONDO:0015038", "name": "Lissencephaly with cerebellar hypoplasia type e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019735", "MEDGEN:1676990", "Orphanet:100015", "UMLS:C5191422", "icd11.foundation:252327835"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.", "id": "MONDO:0015039", "name": "Lissencephaly with cerebellar hypoplasia type f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019736", "MEDGEN:902647", "Orphanet:100016", "SCTID:715822007", "UMLS:C4274989", "icd11.foundation:468664200"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and 5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)", "id": "MONDO:0015040", "name": "Myelodysplastic syndrome with excess blasts-1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MDS-EB-1", "RAEB-1", "RAEB-I", "myelodysplastic syndrome with Excess blasts-1"], "xref": ["GARD:0019737", "MEDGEN:231145", "NCIT:C7167", "Orphanet:100019", "UMLS:C1318550"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and 10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)", "id": "MONDO:0015041", "name": "Myelodysplastic syndrome with excess blasts-2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MDS-EB-2", "RAEB-2", "RAEB-II", "myelodysplastic syndrome with Excess blasts-2"], "xref": ["GARD:0019738", "MEDGEN:1644740", "NCIT:C7168", "Orphanet:100020", "UMLS:C4704767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015042", "name": "Primary plasmacytoma of the bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019739", "Orphanet:100021"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015043", "name": "Extramedullary soft tissue plasmacytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019740", "MEDGEN:1842608", "Orphanet:100022", "UMLS:C2211567"]}
{"category": ["biolink:Disease"], "description": "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).", "id": "MONDO:0015044", "name": "Mu-heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["mu chain disease", "mu heavy chain disease", "mu-HCD"], "xref": ["DOID:0060128", "GARD:0019741", "ICD9:273.2", "MEDGEN:66875", "NCIT:C3892", "Orphanet:100024", "SCTID:61493004", "UMLS:C0242310", "icd11.foundation:963887455"]}
{"category": ["biolink:Disease"], "description": "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.", "id": "MONDO:0015045", "name": "Alpha-heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Alpha heavy chain disease", "Alpha-HCD", "IPSID", "Immunoproliferative small intestinal disease", "Mediterranean abdominal lymphoma", "Mediterranean lymphoma", "Mediterraneanl lymphoma", "alpha chain disease"], "xref": ["DOID:0060126", "GARD:0019742", "ICDO:9760/3", "ICDO:9764/3", "MEDGEN:7039", "MESH:D007161", "NCIT:C3132", "Orphanet:100025", "UMLS:C0021071", "icd11.foundation:680227490"]}
{"category": ["biolink:Disease"], "description": "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.", "id": "MONDO:0015046", "name": "Gamma-heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Franklin disease", "Franklin's disease", "gamma heavy chain disease", "gamma-HCD"], "xref": ["DOID:0060127", "GARD:0010346", "ICD9:273.2", "MEDGEN:42374", "NCIT:C3083", "Orphanet:100026", "SCTID:109984001", "UMLS:C0018854", "icd11.foundation:705015637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015047", "name": "Amelogenesis imperfecta type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["hypoplastic amelogenesis imperfecta"], "xref": ["GARD:0000645", "ICD9:520.5", "MEDGEN:97992", "Orphanet:100031", "SCTID:109476006", "UMLS:C0399367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015048", "name": "Amelogenesis imperfecta type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["hypomaturation amelogenesis imperfecta"], "xref": ["GARD:0008349", "ICD9:520.5", "MEDGEN:97994", "MESH:C536606", "Orphanet:100033", "SCTID:109475005", "UMLS:C0399372"]}
{"category": ["biolink:Disease"], "description": "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.", "id": "MONDO:0015049", "name": "Solitary necrotic nodule of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hepatic solitary necrotic nodule"], "xref": ["GARD:0019743", "MEDGEN:755361", "Orphanet:100035", "SCTID:447058001", "UMLS:C2960192", "icd11.foundation:209168589"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.", "id": "MONDO:0015050", "name": "Esophageal duplication cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019744", "MEDGEN:929193", "Orphanet:100047", "SCTID:721161005", "UMLS:C4303524"]}
{"category": ["biolink:Disease"], "description": "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.", "id": "MONDO:0015051", "name": "Tubular duplication of the esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019745", "MEDGEN:897945", "Orphanet:100048", "UMLS:C4274729"]}
{"category": ["biolink:Disease"], "description": "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0015053", "name": "Hereditary angioedema type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HAE 1", "HAE-I", "hereditary angioneurotic edema type 1", "hereditary angioneurotic oedema type 1"], "xref": ["GARD:0016933", "ICD9:279.8", "MEDGEN:403466", "Orphanet:100050", "SCTID:234619000", "UMLS:C2717906"]}
{"category": ["biolink:Disease"], "description": "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0015054", "name": "Hereditary angioedema type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HAE 2", "HAE-II", "hereditary angioneurotic edema type 2", "hereditary angioneurotic oedema type 2"], "xref": ["GARD:0016934", "MEDGEN:585077", "Orphanet:100051", "UMLS:C0398776"]}
{"category": ["biolink:Disease"], "description": "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0015055", "name": "Acquired angioedema type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["AAE 2", "AAE II", "acquired angioneurotic edema type 2", "acquired angioneurotic oedema type 2"], "xref": ["GARD:0019747", "MEDGEN:1814461", "Orphanet:100055", "UMLS:C5680381"]}
{"category": ["biolink:Disease"], "description": "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0015056", "name": "Acquired angioedema type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["acquired angioneurotic edema type 1", "acquired angioneurotic oedema type 1"], "xref": ["GARD:0019748", "MEDGEN:1814460", "Orphanet:100056", "UMLS:C5680380"]}
{"category": ["biolink:Disease"], "description": "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.", "id": "MONDO:0015057", "name": "Renin-angiotensin-aldosterone system-blocker-induced angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RAE", "Raas-blocker-induced angioedema", "Raas-blocker-induced angioneurotic edema", "Raas-blocker-induced angioneurotic oedema", "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema", "renin-angiotensin-aldosterone system-blocker-induced angioneurotic oedema"], "xref": ["GARD:0016936", "MEDGEN:725846", "MESH:C535293", "Orphanet:100057", "SCTID:403607004", "UMLS:C1304495"]}
{"category": ["biolink:Disease"], "description": "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.", "id": "MONDO:0015059", "name": "Progressive non-fluent aphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Agramatic variant of PPA", "Agramatic variant of primary progressive aphasia", "Primary Progressive Nonfluent aphasia", "non-fluent variant PPA"], "xref": ["DOID:0081390", "GARD:0010793", "MEDGEN:148373", "MESH:D057178", "MedDRA:10029542", "NCIT:C85025", "Orphanet:100070", "SCTID:716281000", "UMLS:C0751706"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.", "id": "MONDO:0015060", "name": "Mosaic trisomy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 3", "Mosaic trisomy type 3", "trisomy 3 mosaicism"], "xref": ["GARD:0005342", "MEDGEN:1646607", "Orphanet:100071", "SCTID:764627005", "UMLS:C4707012"]}
{"category": ["biolink:Disease"], "description": "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.", "id": "MONDO:0015061", "name": "Neurogenic thoracic outlet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NTOS", "neurogenic TOS", "neurogenic cervical rib syndrome", "neurogenic costoclavicular syndrome", "neurogenic thoracic outlet compression syndrome"], "xref": ["GARD:0019749", "MEDGEN:155880", "Orphanet:100073", "SCTID:2040007", "UMLS:C0751549"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.", "id": "MONDO:0015062", "name": "Gastric neuroendocrine tumor, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GNET", "gastric NET", "gastric NET G1/2", "gastric neuroendocrine tumor", "gastric neuroendocrine tumour", "gastric well differentiated endocrine tumor", "gastric well differentiated endocrine tumor/carcinoma", "gastric well differentiated endocrine tumour"], "xref": ["GARD:0025056", "MEDGEN:474032", "NCIT:C95871", "ONCOTREE:SWDNET", "UMLS:C3272399"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.", "id": "MONDO:0015063", "name": "Duodenal neuroendocrine tumor, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["duodenal neuroendocrine tumor", "duodenal neuroendocrine tumour"], "xref": ["GARD:0019751", "MEDGEN:1619951", "NCIT:C135080", "Orphanet:100076", "UMLS:C4525619"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.", "id": "MONDO:0015064", "name": "Jejunal neuroendocrine tumor, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["jejunal neuroendocrine neoplasm"], "xref": ["GARD:0019752", "MEDGEN:1619460", "NCIT:C135090", "Orphanet:100077", "UMLS:C4525626"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.", "id": "MONDO:0015065", "name": "Ileal neuroendocrine tumor, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ileal neuroendocrine neoplasm"], "xref": ["GARD:0019753", "MEDGEN:1611292", "NCIT:C135092", "Orphanet:100078", "UMLS:C4525628"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.", "id": "MONDO:0015066", "name": "Neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEN of appendix", "appendiceal NEN", "appendiceal neuroendocrine neoplasm", "appendiceal neuroendocrine tumor", "appendiceal neuroendocrine tumour", "appendix NET", "appendix neuroendocrine tumor", "appendix neuroendocrine tumour", "appendix well differentiated endocrine tumor", "appendix well differentiated endocrine tumor/carcinoma", "appendix well differentiated endocrine tumour"], "xref": ["GARD:0019754", "MEDGEN:474400", "NCIT:C96422", "ONCOTREE:AWDNET", "Orphanet:100079", "SCTID:725167001", "UMLS:C3272767", "icd11.foundation:1590340268"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.", "id": "MONDO:0015067", "name": "Neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NET of the colon", "colonic NET"], "xref": ["GARD:0025057", "MEDGEN:1617490", "NCIT:C135212", "UMLS:C4525742"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.", "id": "MONDO:0015068", "name": "Rectal neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neuroendocrine tumor of rectum, well differentiated, low or intermediate grade", "rectal well differentiated neuroendocrine neoplasm", "rectal well-differentiated neuroendocrine neoplasm"], "xref": ["GARD:0025058", "MEDGEN:1810164", "NCIT:C135213", "Orphanet:100081", "UMLS:C5554035"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.", "id": "MONDO:0015069", "name": "Neuroendocrine tumor of the anal canal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NET of anal canal", "NET of the anal canal", "anal NET", "anal Neuroendocrine tumor", "anal Neuroendocrine tumour", "anal canal NET", "anal canal neuroendocrine tumor", "anal canal neuroendocrine tumour", "anal canal well differentiated tumor", "anal canal well differentiated tumor/carcinoma", "anal canal well differentiated tumour", "neuroendocrine neoplasm of the anal canal"], "xref": ["GARD:0019757", "MEDGEN:474482", "NCIT:C96540", "Orphanet:100082", "UMLS:C3272849", "icd11.foundation:1927831331"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.", "id": "MONDO:0015070", "name": "Laryngeal neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["laryngeal neuroendocrine neoplasm", "larynx NET", "larynx neuroendocrine neoplasm", "larynx neuroendocrine tumor", "larynx neuroendocrine tumor, well differentiated, low or intermediate grade", "larynx neuroendocrine tumour", "neuroendocrine neoplasm of larynx", "neuroendocrine neoplasm of the larynx"], "xref": ["DOID:5457", "GARD:0019758", "MEDGEN:232692", "NCIT:C6023", "Orphanet:100083", "SCTID:707625001", "UMLS:C1334374", "icd11.foundation:1502591214"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine neoplasm that involves the middle ear.", "id": "MONDO:0015071", "name": "Middle ear neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["middle ear NET", "middle ear neuroendocrine neoplasm", "middle ear neuroendocrine tumor", "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade", "neuroendocrine neoplasm of middle ear", "neuroendocrine tumor of middle ear", "neuroendocrine tumour of middle ear"], "xref": ["GARD:0019759", "MEDGEN:931137", "Orphanet:100084", "SCTID:717918002", "UMLS:C4305468", "icd11.foundation:1437498002"]}
{"category": ["biolink:Disease"], "description": "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.", "id": "MONDO:0015072", "name": "Liver neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HNEC", "PHNEC", "hepatic neuroendocrine carcinoma", "liver neuroendocrine cancer", "liver neuroendocrine carcinoma", "neuroendocrine carcinoma of liver", "primary hepatic neuroendocrine carcinoma", "primary liver neuroendocrine carcinoma"], "xref": ["GARD:0019760", "MEDGEN:474664", "NCIT:C96787", "Orphanet:100085", "SCTID:716652006", "UMLS:C3273031"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.", "id": "MONDO:0015073", "name": "Gallbladder neuroendocrine tumor, grade 1/2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["gallbladder NET", "gallbladder neuroendocrine tumor", "gallbladder neuroendocrine tumour", "gallbladder well differentiated endocrine tumor", "gallbladder well differentiated endocrine tumor/carcinoma", "gallbladder well differentiated endocrine tumour"], "xref": ["GARD:0019761", "MEDGEN:474749", "NCIT:C96918", "Orphanet:100086", "UMLS:C3273116"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the thyroid gland.", "id": "MONDO:0015074", "name": "Thyroid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of the thyroid", "neoplasm of the thyroid gland", "neoplasm of thyroid", "neoplasm of thyroid gland", "thyroid gland neoplasm", "thyroid gland neoplasm (disease)", "thyroid gland tumor", "thyroid gland tumour", "thyroid neoplasm", "thyroid neoplasms", "thyroid tumor", "tumor of the thyroid", "tumor of the thyroid gland", "tumor of thyroid", "tumor of thyroid gland", "tumour of the thyroid", "tumour of the thyroid gland", "tumour of thyroid", "tumour of thyroid gland"], "xref": ["EFO:0003841", "GARD:0019762", "ICD9:239.7", "MEDGEN:21546", "NCIT:C3414", "ONCOTREE:THYROID", "Orphanet:100087", "SCTID:127018007", "UMLS:C0040136"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.", "id": "MONDO:0015075", "name": "Thyroid gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of the thyroid", "carcinoma of the thyroid gland", "carcinoma of thyroid", "carcinoma of thyroid gland", "thyroid carcinoma", "thyroid gland carcinoma"], "xref": ["DOID:3963", "EFO:0002892", "GARD:0019763", "HP:0002890", "MEDGEN:107811", "MedDRA:10007476", "NANDO:2200074", "NCIT:C4815", "Orphanet:100088", "SCTID:448216007", "UMLS:C0549473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015079", "name": "Multiple polyglandular tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019766", "ICD10WHO:D44.8", "MEDGEN:1863613", "Orphanet:100094", "UMLS:C5848154", "icd11.foundation:1316827435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015082", "name": "Alopecia antibody deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IPP-Gelfand syndrome"], "xref": ["GARD:0018713", "MEDGEN:1683018", "Orphanet:1006", "UMLS:C5190867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015083", "name": "Nuclear oculomotor paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:100932"]}
{"category": ["biolink:Disease"], "description": "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.", "id": "MONDO:0015084", "name": "Fraxf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019769", "MEDGEN:897295", "Orphanet:100974", "SCTID:716708005", "UMLS:C4274329"]}
{"category": ["biolink:Disease"], "description": "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.", "id": "MONDO:0015085", "name": "Bathing suit ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSI"], "xref": ["GARD:0016938", "MEDGEN:1386460", "Orphanet:100976", "SCTID:725588002", "UMLS:C4511230", "icd11.foundation:174005370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015086", "name": "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Benallegue-Lacete syndrome"], "xref": ["GARD:0000853", "MEDGEN:1674171", "Orphanet:100978", "UMLS:C5190852"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of complex hereditary spastic paraplegia.", "id": "MONDO:0015087", "name": "Autosomal dominant complex spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["autosomal dominant complex HSP", "autosomal dominant complex SPG", "autosomal dominant complex hereditary spastic paraplegia", "autosomal dominant complicated HSP", "autosomal dominant complicated SPG", "autosomal dominant complicated spastic paraplegia", "complex hereditary spastic paraplegia, autosomal dominant"], "xref": ["GARD:0019770", "MEDGEN:1842369", "Orphanet:100979", "UMLS:C5680379"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.", "id": "MONDO:0015091", "name": "Autosomal dominant spastic paraplegia type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ALDH18A1 autosomal dominant complex spastic paraplegia", "SPG9", "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1", "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome", "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"], "xref": ["GARD:0025059", "MEDGEN:322007", "Orphanet:100990", "UMLS:C1832669", "icd11.foundation:1867328407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015092", "name": "Cleft hard palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019774", "ICD10CM:Q35.1", "MEDGEN:609341", "Orphanet:101023", "SCTID:448915004", "UMLS:C0432090", "icd11.foundation:1047415764"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015093", "name": "Sub-cortical nodular heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019775", "MEDGEN:1843064", "Orphanet:101029", "UMLS:C5681805", "icd11.foundation:1683302159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015094", "name": "Subependymal nodular heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005050", "ICD9:742.4", "MEDGEN:781340", "MedDRA:10071150", "Orphanet:101030", "SCTID:699812002", "UMLS:C3160906", "icd11.foundation:1752491379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015095", "name": "Peters anomaly-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025060", "MEDGEN:419463", "MESH:C537885", "Orphanet:101033", "UMLS:C2931652"]}
{"category": ["biolink:Disease"], "description": "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.", "id": "MONDO:0015096", "name": "Familial hypofibrinogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002887", "MEDGEN:1826143", "Orphanet:101041", "UMLS:C5681803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015097", "name": "Aortic valve dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019776", "ICD9:746.89", "MEDGEN:576679", "Orphanet:101043", "SCTID:253604004", "UMLS:C0344993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015099", "name": "Unilateral hemispheric polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019777", "MEDGEN:1842283", "Orphanet:101071", "UMLS:C5681804", "icd11.foundation:1318599015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015100", "name": "Aregenerative anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0019778", "MEDGEN:639969", "MedDRA:10054329", "Orphanet:101096", "SCTID:89112009", "UMLS:C0553669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015101", "name": "Marin-amat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019779", "MEDGEN:1842834", "Orphanet:101104", "UMLS:C5681802", "icd11.foundation:727922687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015102", "name": "Non-secreting chemodectoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-secreting chemodectoma"], "xref": ["GARD:0025061", "Orphanet:101106"]}
{"category": ["biolink:Disease"], "description": "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.", "id": "MONDO:0015103", "name": "Pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APV/ADA, Fallot type", "PVA/ADA, Fallot type", "absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome"], "xref": ["GARD:0019780", "MEDGEN:1644090", "Orphanet:101206", "UMLS:C4707896"]}
{"category": ["biolink:Disease"], "description": "The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.", "id": "MONDO:0015104", "name": "Porphyria cutanea tarda", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCT"], "xref": ["DOID:3132", "GARD:0007433", "ICD10CM:E80.1", "MEDGEN:56453", "MESH:D017119", "MedDRA:10036183", "NANDO:1200816", "NANDO:2201267", "NCIT:C27725", "ONCOTREE:PCT", "Orphanet:101330", "SCTID:61860000", "UMLS:C0162566", "icd11.foundation:370983230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015109", "name": "Congenital anomaly of the mitral subvalvular apparatus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019784", "MEDGEN:756923", "Orphanet:101932", "UMLS:C3164517", "icd11.foundation:498751490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015126", "name": "Polyendocrinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019800", "MEDGEN:1826133", "Orphanet:101956", "UMLS:C5681797"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015127", "name": "Pituitary deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019801", "Orphanet:101957", "icd11.foundation:292840069"]}
{"category": ["biolink:Disease"], "description": "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.", "id": "MONDO:0015128", "name": "Primary adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019802", "MEDGEN:854614", "MedDRA:10052381", "NCIT:C113172", "Orphanet:101958", "UMLS:C3887896"]}
{"category": ["biolink:Disease"], "description": "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.", "id": "MONDO:0015129", "name": "Addison disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CPAI", "chronic adrenocorticoid insufficiency", "hypoadrenocorticism, familial", "primary adrenal insufficiency, chronic", "primary hypoadrenalism"], "xref": ["DOID:13774", "GARD:0019803", "ICD9:255.41", "MEDGEN:1324", "MESH:D000224", "MedDRA:10001130", "NANDO:1200411", "NANDO:2200359", "NANDO:2200360", "NCIT:C26689", "OMIM:240200", "Orphanet:101959", "SCTID:373662000", "UMLS:C0001403"]}
{"category": ["biolink:Disease"], "description": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.", "id": "MONDO:0015131", "name": "Combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CID", "congenital combined immunodeficiency"], "xref": ["DOID:0111962", "DOID:628", "GARD:0019806", "ICD9:279.2", "MEDGEN:751396", "NANDO:2100203", "NCIT:C27871", "Orphanet:101972", "UMLS:C2711630", "icd11.foundation:1616506198"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.", "id": "MONDO:0015134", "name": "Constitutional neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital neutropenia", "genetic infantile agranulocytosis", "infantile genetic agranulocytosis"], "xref": ["GARD:0019809", "MEDGEN:1785816", "NCIT:C61242", "Orphanet:101987", "UMLS:C3805116", "icd11.foundation:87096615"]}
{"category": ["biolink:Disease"], "description": "Fevers of unknown etiology recurring over months or years.", "id": "MONDO:0015137", "name": "Periodic fever syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019812", "MEDGEN:855463", "MedDRA:10034533", "NCIT:C118240", "Orphanet:101995", "UMLS:C3889979"]}
{"category": ["biolink:Disease"], "description": "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.", "id": "MONDO:0015140", "name": "Early-onset autosomal dominant alzheimer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EOFAD", "early-onset familial autosomal dominant Alzheimer disease"], "xref": ["GARD:0012798", "Orphanet:1020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015146", "name": "Classic lissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["lissencephaly type 1"], "xref": ["GARD:0005049", "MEDGEN:98463", "NANDO:1201068", "NANDO:1201069", "Orphanet:102009", "UMLS:C0431375", "icd11.foundation:570001324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015148", "name": "Lissencephaly type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112232", "GARD:0019821", "MEDGEN:369910", "Orphanet:102011", "UMLS:C1969029", "icd11.foundation:1533765623"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015149", "name": "Pure hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Pure HSP", "Pure SPG", "Pure familial spastic paraplegia", "uncomplicated HSP", "uncomplicated SPG", "uncomplicated familial spastic paraplegia", "uncomplicated hereditary spastic paraplegia"], "xref": ["GARD:0019822", "MEDGEN:581445", "NANDO:1200053", "Orphanet:102012", "SCTID:230260007", "UMLS:C0393555"]}
{"category": ["biolink:Disease"], "description": "A hereditary spastic paraplegia that is part of a larger syndrome.", "id": "MONDO:0015150", "name": "Complex hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Complex HSP", "Complex SPG", "Complex familial spastic paraplegia", "complicated HSP", "complicated SPG", "complicated familial spastic paraplegia", "complicated hereditary spastic paraplegia", "syndrome associated with hereditary spastic paraplegia", "syndromic hereditary spastic paraplegia"], "xref": ["GARD:0019823", "MEDGEN:581446", "NANDO:1200054", "Orphanet:102013", "SCTID:230261006", "UMLS:C0393556"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of limb-girdle muscular dystrophy.", "id": "MONDO:0015151", "name": "Muscular dystrophy, limb-girdle, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant limb-girdle muscular dystrophy", "limb-girdle muscular dystrophy, autosomal dominant", "muscular dystrophy, limb-girdle, autosomal dominant"], "xref": ["DOID:0110273", "GARD:0019824", "MEDGEN:1826162", "OMIMPS:603511", "Orphanet:102014", "UMLS:C5675009", "icd11.foundation:537908479"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of limb-girdle muscular dystrophy.", "id": "MONDO:0015152", "name": "Autosomal recessive limb-girdle muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive limb-girdle muscular dystrophy", "limb-girdle muscular dystrophy, autosomal recessive", "muscular dystrophy, limb-girdle, autosomal recessive"], "xref": ["DOID:0110274", "GARD:0019825", "MEDGEN:419194", "MESH:C538640", "OMIMPS:253600", "Orphanet:102015", "UMLS:C2931907", "icd11.foundation:319162980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015157", "name": "Human herpesvirus 8-related tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["HHV-8-related disorder"], "xref": ["GARD:0019830", "MEDGEN:1843228", "NCIT:C27697", "Orphanet:102024", "UMLS:C5680371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015158", "name": "Unexplained periodic fever syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019831", "MEDGEN:1842497", "Orphanet:102237", "UMLS:C5681779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015159", "name": "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MCA/MR", "multiple congenital anomalies-intellectual disability with or without dysmorphism", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"], "xref": ["GARD:0019832", "MEDGEN:1826158", "Orphanet:102283", "UMLS:C5680372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015160", "name": "Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MCA/variable MR", "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"], "xref": ["GARD:0025062", "Orphanet:102284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015161", "name": "Multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["MCA without intellectual disability", "multiple congenital anomalies without intellectual disability with or without dysmorphism"], "xref": ["GARD:0019833", "MEDGEN:1842829", "Orphanet:102285", "UMLS:C5680373"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).", "id": "MONDO:0015164", "name": "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML and myelodysplastic syndromes related to alkylating agent"], "xref": ["GARD:0019835", "MEDGEN:233970", "NCIT:C27913", "Orphanet:102379", "UMLS:C1332234", "icd11.foundation:1401970160"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.", "id": "MONDO:0015165", "name": "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"], "xref": ["GARD:0019836", "MEDGEN:1639654", "Orphanet:102381", "UMLS:C4707659", "icd11.foundation:88207494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015166", "name": "Acute myeloid leukemia with t(8;21)(q22;q22) translocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["21)(q22", "AML with t(8", "q22) translocation"], "xref": ["GARD:0019837", "MEDGEN:224862", "Orphanet:102724", "UMLS:C1292774", "icd11.foundation:1075154059"]}
{"category": ["biolink:Disease"], "description": "A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.", "id": "MONDO:0015167", "name": "Amniotic band syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Adam syndrome", "Streeter dysplasia", "amniotic band constriction", "amniotic bands", "amniotic deformity-adhesion-mutilation syndrome", "congenital ring constrictions", "constriction band syndrome", "constriction rings syndrome", "deformity due to amniotic band"], "xref": ["GARD:0000429", "MEDGEN:66322", "MESH:D000652", "NCIT:C84552", "NORD:766", "OMIM:217100", "Orphanet:1034", "Orphanet:295000", "SCTID:440214006", "UMLS:C0220724", "icd11.foundation:1033549095"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.", "id": "MONDO:0015168", "name": "Arthrogryposis multiplex congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AMC", "Arthromyodysplasia congenita", "arthrogryposis multiplex congenita", "congenital arthromyodysplasia", "multiple congenital arthrogryposis", "myodysplasia"], "xref": ["DOID:0080954", "GARD:0000777", "ICD10CM:Q74.3", "MEDGEN:1830310", "MedDRA:10051643", "NORD:810", "OMIMPS:617468", "Orphanet:1037", "UMLS:C5779613", "icd11.foundation:1930990330"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.", "id": "MONDO:0015169", "name": "Chronic diarrhea due to glucoamylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chronic diarrhea due to glucoamylase deficiency", "maltase-glucoamylase deficiency"], "xref": ["GARD:0019838", "MEDGEN:898614", "NANDO:2200911", "Orphanet:103907", "SCTID:716277000", "UMLS:C4275068", "icd11.foundation:2084206046"]}
{"category": ["biolink:Disease"], "description": "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.", "id": "MONDO:0015170", "name": "Congenital sodium diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Na-H exchange deficiency"], "xref": ["GARD:0016945", "MEDGEN:78632", "Orphanet:103908", "SCTID:18805001", "UMLS:C0267663"]}
{"category": ["biolink:Disease"], "description": "Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.", "id": "MONDO:0015171", "name": "Congenital enterocyte heparan sulfate deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019839", "MEDGEN:1373054", "Orphanet:103910", "SCTID:725591002", "UMLS:C4511238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015174", "name": "Autoimmune enteropathy type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:103917", "icd11.foundation:1137579941"]}
{"category": ["biolink:Disease"], "description": "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.", "id": "MONDO:0015175", "name": "Autoimmune pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AIP"], "xref": ["DOID:0040091", "GARD:0010911", "MEDGEN:750633", "MESH:D000081012", "MedDRA:10069002", "NANDO:1200925", "NANDO:2200943", "Orphanet:103919", "SCTID:448542008", "UMLS:C2609129", "icd11.foundation:2057951941"]}
{"category": ["biolink:Disease"], "description": "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.", "id": "MONDO:0015176", "name": "Undetermined colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019840", "MEDGEN:1842621", "Orphanet:103920", "UMLS:C5681748"]}
{"category": ["biolink:Disease"], "description": "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.", "id": "MONDO:0015177", "name": "Metaphyseal anadysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Maroteaux-Verloes-Stanescu syndrome", "regressive metaphyseal dysplasia"], "xref": ["GARD:0003562", "ICD9:756.9", "MEDGEN:96582", "MESH:C537351", "OMIM:309645", "Orphanet:1040", "SCTID:254085009", "UMLS:C0432226", "icd11.foundation:327336919"]}
{"category": ["biolink:Disease"], "description": "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.", "id": "MONDO:0015183", "name": "Short bowel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["short gut syndrome"], "xref": ["DOID:10605", "GARD:0001502", "ICD9:579.3", "MEDGEN:19966", "MESH:D012778", "MedDRA:10049416", "NANDO:2100274", "NANDO:2200944", "NCIT:C99059", "NORD:1708", "Orphanet:104008", "SCTID:26629001", "UMLS:C0036992", "icd11.foundation:780637678"]}
{"category": ["biolink:Disease"], "description": "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.", "id": "MONDO:0015185", "name": "Intestinal polyposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0019847", "MEDGEN:577190", "MedDRA:10057018", "NCIT:C155954", "Orphanet:104010", "SCTID:254589009", "UMLS:C0345891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015191", "name": "Myopathic intestinal pseudoobstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019853", "MEDGEN:1843444", "Orphanet:104077", "UMLS:C5681739", "icd11.foundation:1007742014"]}
{"category": ["biolink:Disease"], "description": "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).", "id": "MONDO:0015193", "name": "Hydrops fetalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HF", "fetal anasarca", "fetal hydrops", "foetal anasarca", "foetal hydrops", "generalised foetal oedema", "generalized fetal edema", "hydrops fetalis", "hydrops fetalis (disease)"], "xref": ["GARD:0002783", "HP:0001789", "MEDGEN:6947", "MESH:D015160", "MedDRA:10020529", "NCIT:C84767", "Orphanet:1041", "SCTID:276508000", "UMLS:C0020305"]}
{"category": ["biolink:Disease"], "description": "A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.", "id": "MONDO:0015194", "name": "Sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["anaemia sideroblastic", "anemia sideroblastic", "sideroblastic anemia"], "xref": ["DOID:8955", "GARD:0018714", "ICD9:285.0", "MEDGEN:8067", "MESH:D000756", "MedDRA:10040661", "NANDO:2100179", "NANDO:2200616", "NCIT:C36078", "Orphanet:1047", "SCTID:41841004", "UMLS:C0002896"]}
{"category": ["biolink:Disease"], "description": "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.", "id": "MONDO:0015195", "name": "Atresia of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atresia of urethra", "atresia of urethra (disease)", "urethral atresia"], "xref": ["GARD:0018678", "HP:0000068", "ICD10CM:Q64.3", "MEDGEN:576882", "MedDRA:10064895", "Orphanet:105", "SCTID:253902002", "UMLS:C0345345"]}
{"category": ["biolink:Disease"], "description": "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.", "id": "MONDO:0015196", "name": "Vein of galen aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["vein of Galen arteriovenous malformations"], "xref": ["GARD:0005467", "MEDGEN:140912", "MESH:C536535", "NCIT:C98642", "Orphanet:1053", "SCTID:253194008", "UMLS:C0431420", "icd11.foundation:1884295064"]}
{"category": ["biolink:Disease"], "description": "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.", "id": "MONDO:0015197", "name": "Aneurysm of sinus of valsalva", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000670", "ICD9:747.29", "MEDGEN:853730", "NANDO:2200293", "Orphanet:1054", "SCTID:54160000", "UMLS:C2239253", "icd11.foundation:364348641"]}
{"category": ["biolink:Disease"], "description": "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0015198", "name": "Aniridia-ptosis-intellectual disability-familial obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000689", "MEDGEN:929405", "Orphanet:1067", "SCTID:720987001", "UMLS:C4303736"]}
{"category": ["biolink:Disease"], "description": "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.", "id": "MONDO:0015199", "name": "Aniridia - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Walker-Dyson syndrome"], "xref": ["GARD:0005530", "MEDGEN:419752", "MESH:C536568", "Orphanet:1068", "UMLS:C2931243"]}
{"category": ["biolink:Disease"], "description": "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.", "id": "MONDO:0015200", "name": "Anisakiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Anisakis simplex infection"], "xref": ["DOID:7033", "EFO:0007146", "GARD:0000693", "ICD10CM:B81.0", "ICD9:127.1", "MEDGEN:102418", "MESH:D017129", "MedDRA:10002533", "NCIT:C128393", "Orphanet:1070", "SCTID:442652006", "UMLS:C0162576", "icd11.foundation:2005274000"]}
{"category": ["biolink:Disease"], "description": "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0015201", "name": "Ankyloblepharon filiforme-imperforate anus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Aughton-Hufnagle syndrome"], "xref": ["GARD:0000697", "MEDGEN:1666000", "Orphanet:1074", "UMLS:C4751231"]}
{"category": ["biolink:Disease"], "description": "A coronary artery disorder characterized by abnormal origin, course, or structure of one or more coronary arteries present at birth.", "id": "MONDO:0015203", "name": "Coronary artery congenital malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital anomaly of coronary artery", "congenital coronary artery anomaly", "coronary artery abnormality [ambiguous]", "coronary artery anomaly", "coronary artery anomaly, congenital"], "xref": ["DOID:11843", "GARD:0001534", "ICD9:746.85", "MEDGEN:1612789", "MedDRA:10061060", "Orphanet:1081", "SCTID:28574005", "UMLS:C4531298", "icd11.foundation:902783759"]}
{"category": ["biolink:Disease"], "description": "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.", "id": "MONDO:0015204", "name": "Microlissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112234", "GARD:0016555", "MEDGEN:365439", "Orphanet:1083", "UMLS:C1956147", "icd11.foundation:169315445"]}
{"category": ["biolink:Disease"], "description": "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.", "id": "MONDO:0015205", "name": "Isolated lissencephaly type 1 without known genetic defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018715", "MEDGEN:895946", "Orphanet:1084", "SCTID:715406003", "UMLS:C4275151", "icd11.foundation:80358651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015206", "name": "Short stature-heart defect-craniofacial anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Rommen-Mueller-Sybert syndrome"], "xref": ["GARD:0004739", "MEDGEN:419321", "MESH:C535871", "Orphanet:1088", "UMLS:C2931050"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015225", "name": "Arthrogryposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["arthrogryposis syndrome"], "xref": ["GARD:0019870", "Orphanet:109007", "icd11.foundation:1692487835"]}
{"category": ["biolink:Disease"], "description": "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).", "id": "MONDO:0015228", "name": "Pentasomy x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["49, XXXXX syndrome", "49,XXXXX syndrome", "Penta X Syndrome", "Pentasomy type X", "XXXXX syndrome", "penta X syndrome", "penta-X", "poly-X"], "xref": ["GARD:0005678", "MEDGEN:423649", "MESH:C535319", "NCIT:C89802", "NORD:1565", "Orphanet:11", "SCTID:43248007", "UMLS:C2937419", "icd11.foundation:2087864894"]}
{"category": ["biolink:Disease"], "description": "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems", "id": "MONDO:0015229", "name": "Bardet-biedl syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBS", "Bardet-Biedl syndrome"], "xref": ["DOID:1935", "GARD:0006866", "ICD9:759.89", "MEDGEN:156019", "MESH:D020788", "MedDRA:10056715", "NANDO:2200414", "NCIT:C118632", "NORD:838", "OMIMPS:209900", "Orphanet:110", "SCTID:5619004", "UMLS:C0752166", "icd11.foundation:255526264"]}
{"category": ["biolink:Disease"], "description": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0015230", "name": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cassia Stocco dos Santos syndrome", "anophthalmia megalocornea cardiopathy skeletal anomalies"], "xref": ["GARD:0000717", "MEDGEN:929704", "Orphanet:1101", "SCTID:720495005", "UMLS:C4304035"]}
{"category": ["biolink:Disease"], "description": "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.", "id": "MONDO:0015231", "name": "Bartter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bartter disease", "Bartter's syndrome", "hypokalemic alkalosis", "renal tubular normotensive hypokalemic alkalosis with hypercalciuria", "salt-losing tubular disorder, Henle's loop type", "salt-wasting tubulopathy, Henle's loop type"], "xref": ["DOID:445", "GARD:0005893", "ICD10CM:E26.81", "ICD9:255.13", "MEDGEN:2172", "MESH:D001477", "MedDRA:10050839", "NANDO:2100021", "NANDO:2200146", "NCIT:C34412", "NORD:842", "OMIMPS:601678", "Orphanet:112", "SCTID:707742001", "UMLS:C0004775", "icd11.foundation:777233947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015232", "name": "Radial deficiency-tibial hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018716", "MEDGEN:1682367", "Orphanet:1121", "UMLS:C5190823"]}
{"category": ["biolink:Disease"], "description": "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.", "id": "MONDO:0015233", "name": "Caudal appendage-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lynch-Lee-Murday syndrome"], "xref": ["GARD:0001163", "MEDGEN:419843", "MESH:C537713", "Orphanet:1123", "SCTID:726621009", "UMLS:C2931593"]}
{"category": ["biolink:Disease"], "description": "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.", "id": "MONDO:0015234", "name": "Arachnodactyly-abnormal ossification-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kosztolanyi syndrome"], "xref": ["GARD:0000381", "MEDGEN:419792", "MESH:C537024", "Orphanet:1129", "SCTID:720501007", "UMLS:C2931398"]}
{"category": ["biolink:Disease"], "description": "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.", "id": "MONDO:0015235", "name": "Arachnodactyly-intellectual disability-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["De Die-Smulders-Vles-Fryns syndrome", "die Smulders Vles Fryns syndrome"], "xref": ["GARD:0000764", "MEDGEN:929699", "Orphanet:1130", "SCTID:720502000", "UMLS:C4304030"]}
{"category": ["biolink:Disease"], "description": "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.", "id": "MONDO:0015236", "name": "Aortic arch defects", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0000741", "MEDGEN:1842770", "Orphanet:1132", "UMLS:C5680872"]}
{"category": ["biolink:Disease"], "description": "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.", "id": "MONDO:0015237", "name": "Arrhinia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nose agenesis", "isolated nose agenesis"], "xref": ["GARD:0000364", "ICD9:748.1", "MEDGEN:120555", "MESH:C537438", "Orphanet:1134", "SCTID:111317000", "UMLS:C0265740", "icd11.foundation:409489963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015239", "name": "Abnormal origin of the pulmonary artery", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018717", "MEDGEN:539573", "Orphanet:1138", "SCTID:68092007", "UMLS:C0265912", "icd11.foundation:953235173"]}
{"category": ["biolink:Disease"], "description": "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.", "id": "MONDO:0015240", "name": "Digitotalar dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA1", "arthrogryposis multiplex congenita distal type 1", "digitotalar dysmorphism", "distal arthrogryposis type 1"], "xref": ["DOID:0111596", "GARD:0000787", "MESH:C565097", "Orphanet:1146", "icd11.foundation:1679749810"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.", "id": "MONDO:0015241", "name": "Arthrogryposis-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kuskokwim disease"], "xref": ["GARD:0003150", "ICD9:719.89", "MEDGEN:349229", "OMIM:208200", "Orphanet:1149", "SCTID:702447002", "UMLS:C1859709"]}
{"category": ["biolink:Disease"], "description": "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.", "id": "MONDO:0015243", "name": "Allergic bronchopulmonary aspergillosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABPA", "Hinson-Pepys disease", "allergic aspergillosis"], "xref": ["DOID:13166", "EFO:0007140", "GARD:0000602", "ICD10CM:B44.81", "ICD9:518.6", "MEDGEN:479932", "MESH:D001229", "MedDRA:10006474", "NCIT:C84547", "OMIM:103920", "Orphanet:1164", "SCTID:37981002", "UMLS:C3278302", "icd11.foundation:1591607082"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.", "id": "MONDO:0015244", "name": "Autosomal recessive cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ARCA", "arca", "cerebellar ataxia, autosomal recessive"], "xref": ["DOID:0050950", "GARD:0018718", "MEDGEN:1843058", "OMIMPS:213200", "Orphanet:1172", "UMLS:C5575375"]}
{"category": ["biolink:Disease"], "description": "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.", "id": "MONDO:0015247", "name": "Opsoclonus-myoclonus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ataxo-opso-myoclonus syndrome", "Kinsbourne syndrome", "OMS", "Opsoclonus-Myoclonus-Ataxia Syndrome", "POMA syndrome", "dancing eye syndrome", "dancing eye-dancing feet syndrome", "oma syndrome", "opsoclonus myoclonus syndrome", "opsoclonus-myoclonus-ataxia syndrome", "paraneoplastic opsoclonus-myoclonus", "paraneoplastic opsoclonus-myoclonus-ataxia syndrome"], "xref": ["EFO:1001383", "GARD:0010009", "ICD9:379.59", "MEDGEN:97955", "MESH:D053578", "MedDRA:10053854", "NCIT:C4686", "NORD:1527", "Orphanet:1183", "SCTID:230350000", "UMLS:C0393626"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0015248", "name": "Ataxia-photosensitivity-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Fenton Wilkinson Toselano syndrome", "Fenton-Wilkinson-Toselano syndrome"], "xref": ["GARD:0002287", "MEDGEN:1655873", "Orphanet:1184", "UMLS:C4751230"]}
{"category": ["biolink:Disease"], "description": "A congenital heart defect characterized by the complete atresia of the mitral valve.", "id": "MONDO:0015249", "name": "Mitral atresia disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital atresia of mitral valve", "congenital mitral valve atresia", "mitral atresia", "mitral valve atresia"], "xref": ["GARD:0003685", "HP:0011560", "MEDGEN:91035", "NCIT:C98992", "Orphanet:1205", "SCTID:23063005", "UMLS:C0344760", "icd11.foundation:6462604"]}
{"category": ["biolink:Disease"], "description": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.", "id": "MONDO:0015250", "name": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hamano-Tsukamoto syndrome"], "xref": ["GARD:0004942", "MEDGEN:419294", "MESH:C535625", "Orphanet:1217", "UMLS:C2930956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015252", "name": "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"], "xref": ["GARD:0003482", "MEDGEN:1682668", "Orphanet:1236", "UMLS:C5190778"]}
{"category": ["biolink:Disease"], "description": "A congenital aregenerative and often macrocytic anemia with erythroblastopenia.", "id": "MONDO:0015253", "name": "Diamond-blackfan anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aase syndrome", "Aase-Smith II syndrome", "Blackfan-Diamond anaemia", "Blackfan-Diamond anemia", "DBA", "Diamond Blackfan Anemia", "Diamond-Blackfan anemia", "chronic constitutional pure red cell anemia", "congenital PRCA", "congenital hypoplastic anaemia", "congenital hypoplastic anemia", "congenital hypoplastic anemia, Blackfan-Diamond type", "congenital pure red cell aplasia", "erythrogenesis imperfecta", "inherited erythroblastopenia"], "xref": ["DOID:1339", "GARD:0006274", "MEDGEN:266045", "MESH:D029503", "MedDRA:10062989", "NANDO:1200890", "NANDO:2200614", "NCIT:C61236", "NORD:773", "OMIMPS:105650", "Orphanet:124", "SCTID:88854002", "UMLS:C1260899"]}
{"category": ["biolink:Disease"], "description": "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.", "id": "MONDO:0015254", "name": "Schistosomiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bilharzia", "bilharziasis", "schistosomiasis", "snail fever"], "xref": ["DOID:1395", "EFO:1001475", "GARD:0009687", "ICD10CM:B65", "ICD9:120.8", "ICD9:120.9", "MEDGEN:48573", "MESH:D012552", "MedDRA:10039603", "NCIT:C35000", "Orphanet:1247", "SCTID:10087007", "UMLS:C0036323", "icd11.foundation:1194562592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015256", "name": "Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "synonym": ["Rodini-Richieri Costa syndrome"], "xref": ["Orphanet:1258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015257", "name": "Sino-auricular heart block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:1260"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).", "id": "MONDO:0015259", "name": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stratton-Garcia-Young syndrome"], "xref": ["GARD:0005036", "MEDGEN:1645467", "Orphanet:1277", "UMLS:C4707567"]}
{"category": ["biolink:Disease"], "description": "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).", "id": "MONDO:0015260", "name": "Diphyllobothriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bothriocephalosis", "Diphyllobothrium caused disease or disorder", "Diphyllobothrium disease or disorder", "Diphyllobothrium infection", "Diphyllobothrium infectious disease", "fish tapeworm"], "xref": ["DOID:10075", "EFO:0007238", "GARD:0000942", "ICD10CM:B70.0", "ICD9:123.4", "MEDGEN:3858", "MESH:D004169", "MedDRA:10013029", "NCIT:C128391", "Orphanet:128", "SCTID:187151009", "UMLS:C0012561", "icd11.foundation:1679215344"]}
{"category": ["biolink:Disease"], "description": "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.", "id": "MONDO:0015261", "name": "Pseudopelade of brocq", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004536", "ICD9:704.09", "MEDGEN:88640", "Orphanet:129", "SCTID:238731001", "UMLS:C0086873"]}
{"category": ["biolink:Disease"], "description": "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.", "id": "MONDO:0015262", "name": "Brachyolmia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050690", "GARD:0010903", "ICD9:756.19", "MEDGEN:96584", "MESH:C537098", "Orphanet:1293", "SCTID:254088006", "UMLS:C0432228", "icd11.foundation:1255949169"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.", "id": "MONDO:0015263", "name": "Brugada syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brugada syndrome", "Brugada type idiopathic ventricular fibrillation", "idiopathic ventricular fibrillation, Brugada type", "right bundle branch block, ST segment elevation, and sudden death syndrome", "sudden unexplained nocturnal death syndrome"], "xref": ["DOID:0050451", "GARD:0001030", "ICD9:746.89", "MEDGEN:222975", "MESH:D053840", "MedDRA:10059027", "NCIT:C142891", "NORD:878", "OMIMPS:601144", "Orphanet:130", "SCTID:418818005", "UMLS:C1142166", "icd11.foundation:1250136584"]}
{"category": ["biolink:Disease"], "description": "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.", "id": "MONDO:0015264", "name": "Cryptogenic organizing pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COP", "Organizing Pneumonia", "bronchiolitis obliterans organizing pneumonia", "cryptogenic organizing pneumonitis", "organising pneumonia", "organizing pneumonia"], "xref": ["DOID:0050157", "EFO:1001300", "GARD:0001620", "ICD10CM:J84.116", "ICD9:516.36", "MEDGEN:116663", "MESH:D018549", "NANDO:1200421", "NCIT:C62586", "NORD:873", "Orphanet:1302", "SCTID:68409003", "SCTID:719218000", "UMLS:C0242770", "icd11.foundation:1937662238"]}
{"category": ["biolink:Disease"], "description": "A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.", "id": "MONDO:0015265", "name": "Bronchiolitis obliterans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["BOOP", "constrictive bronchiolitis", "organised pneumonia", "organized pneumonia"], "xref": ["DOID:2799", "EFO:0007183", "GARD:0005961", "HP:0011946", "ICD9:466.19", "ICD9:491.8", "MEDGEN:665", "NANDO:1200745", "NANDO:2100039", "NANDO:2200209", "Orphanet:1303", "SCTID:40100001", "UMLS:C0006272", "icd11.foundation:592711730"]}
{"category": ["biolink:Disease"], "description": "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.", "id": "MONDO:0015267", "name": "Feingold syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brunner-Winter syndrome", "FGLDS", "FS", "MMT", "MODED syndrome", "ODED syndrome", "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum", "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum", "microcephaly-digital anomalies-normal intelligence syndrome", "microcephaly-intellectual disability-tracheoesophageal fistula syndrome", "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome", "oculo-digito-esophageal-duodenal syndrome"], "xref": ["DOID:0060464", "GARD:0008407", "MEDGEN:163209", "NCIT:C74987", "OMIMPS:164280", "Orphanet:1305", "UMLS:C0796068"]}
{"category": ["biolink:Disease"], "description": "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.", "id": "MONDO:0015268", "name": "Medullary sponge kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cacchi-Ricci disease", "MSK", "Precalicial canalicular ectasia"], "xref": ["GARD:0000232", "ICD9:753.17", "MEDGEN:5970", "MESH:D007691", "MedDRA:10027104", "NANDO:2200173", "NCIT:C34751", "NORD:1421", "Orphanet:1309", "SCTID:236443009", "UMLS:C0022681", "icd11.foundation:1723148250"]}
{"category": ["biolink:Disease"], "description": "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.", "id": "MONDO:0015269", "name": "Symmetrical thalamic calcifications", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bilateral symmetrical thalamic gliosis"], "xref": ["GARD:0005070", "MEDGEN:930583", "Orphanet:1314", "SCTID:719164000", "UMLS:C4304914"]}
{"category": ["biolink:Disease"], "description": "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.", "id": "MONDO:0015270", "name": "Butyrylcholinesterase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["apnea, postanesthetic, susceptibility to, due to BCHE deficiency", "butyrylcholinesterase deficiency"], "xref": ["GARD:0007482", "ICD9:289.89", "MEDGEN:220923", "MESH:C537417", "OMIM:617936", "Orphanet:132", "SCTID:191397007", "UMLS:C1283400", "icd11.foundation:581237559"]}
{"category": ["biolink:Disease"], "description": "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.", "id": "MONDO:0015271", "name": "Idiopathic camptocormia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic camptocormism", "idiopathic progressive lumbar kyphosis"], "xref": ["GARD:0001063", "MEDGEN:120496", "MESH:C537968", "MedDRA:10069646", "Orphanet:1320", "SCTID:13534001", "UMLS:C0264162"]}
{"category": ["biolink:Disease"], "description": "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.", "id": "MONDO:0015272", "name": "Camptodactyly-taurinuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial streblodactyly with amino-aciduria"], "xref": ["GARD:0001069", "MEDGEN:1385639", "MESH:C537972", "Orphanet:1325", "SCTID:733466005", "UMLS:C4518792"]}
{"category": ["biolink:Disease"], "description": "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.", "id": "MONDO:0015273", "name": "Complete atrioventricular canal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAVC", "complete atrioventricular septal defect"], "xref": ["GARD:0001454", "ICD9:745.69", "MEDGEN:65132", "MESH:C535974", "NANDO:2100086", "NANDO:2200269", "Orphanet:1329", "SCTID:360481003", "UMLS:C0221215"]}
{"category": ["biolink:Disease"], "description": "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.", "id": "MONDO:0015274", "name": "Chronic beryllium disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["berylliosis", "chronic berylliosis", "chronic beryllium lung disease"], "xref": ["DOID:10322", "EFO:0007168", "GARD:0000867", "ICD9:503", "MEDGEN:67440", "MESH:D001607", "MedDRA:10004485", "Orphanet:133", "SCTID:18121009", "UMLS:C0221052", "icd11.foundation:212013370"]}
{"category": ["biolink:Disease"], "description": "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.", "id": "MONDO:0015275", "name": "Partial atrioventricular canal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PAVC", "partial atrioventricular canal defect"], "xref": ["GARD:0004229", "MEDGEN:868879", "MESH:C536112", "NANDO:2200268", "Orphanet:1330", "SCTID:718216009", "UMLS:C4023290"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.", "id": "MONDO:0015277", "name": "Medullary thyroid gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C cell carcinoma", "MTC", "carcinoma of parafollicular cell", "carcinoma, C-cell, malignant", "medullary carcinoma", "medullary carcinoma of the thyroid", "medullary carcinoma of the thyroid gland", "medullary carcinoma of thyroid", "medullary carcinoma of thyroid gland", "medullary thyroid cancer", "medullary thyroid carcinoma", "medullary thyroid gland carcinoma", "parafollicular cell carcinoma", "thyroid gland medullary cancer", "thyroid gland medullary carcinoma", "thyroid gland neuroendocrine carcinoma", "thyroid medullary carcinoma"], "xref": ["DOID:3973", "GARD:0007004", "HP:0002865", "MEDGEN:66772", "MedDRA:10027101", "NANDO:2201054", "NCIT:C3879", "ONCOTREE:THME", "Orphanet:1332", "SCTID:255032005", "UMLS:C0238462", "icd11.foundation:578519098"]}
{"category": ["biolink:Disease"], "description": "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.", "id": "MONDO:0015278", "name": "Familial pancreatic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial pancreatic cancer", "familial pancreatic carcinoma", "hereditary exocrine pancreatic carcinoma", "hereditary pancreatic cancer", "hereditary pancreatic carcinoma", "pancreatic cancer, somatic", "pancreatic carcinoma, somatic"], "xref": ["GARD:0004206", "MEDGEN:419700", "MESH:C535837", "NCIT:C43298", "OMIM:260350", "Orphanet:1333", "SCTID:715414009", "UMLS:C2931038", "icd11.foundation:1385362916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015279", "name": "Chronic mucocutaneous candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CANDF", "CMC", "chronic mucocutaneous candidiasis", "chronic mucocutaneous candidiasis (disease)", "familial CMC", "familial candidiasis", "familial chronic mucocutaneous candidiasis"], "xref": ["DOID:2058", "GARD:0001077", "HP:0002728", "MEDGEN:2426", "MESH:D002178", "MedDRA:10009007", "NANDO:1200363", "NANDO:2200764", "NCIT:C34444", "OMIMPS:114580", "Orphanet:1334", "SCTID:234568006", "UMLS:C0006845", "icd11.foundation:2120780687"]}
{"category": ["biolink:Disease"], "description": "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.", "id": "MONDO:0015280", "name": "Cardiofaciocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CFC", "CFC syndrome", "cardiofaciocutaneous (CFC) syndrome", "cardiofaciocutaneous syndrome"], "xref": ["DOID:0060233", "GARD:0009146", "MEDGEN:266149", "MESH:C535579", "NANDO:1200462", "NANDO:2200967", "NCIT:C84617", "NORD:891", "OMIMPS:115150", "Orphanet:1340", "SCTID:403770008", "UMLS:C1275081"]}
{"category": ["biolink:Disease"], "description": "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.", "id": "MONDO:0015281", "name": "Atrial standstill", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atrial cardiomyopathy with heart block"], "xref": ["GARD:0016564", "ICD9:426.6", "MEDGEN:639047", "MESH:C563984", "Orphanet:1344", "SCTID:450919004", "UMLS:C0541782", "icd11.foundation:483869734"]}
{"category": ["biolink:Disease"], "description": "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0015282", "name": "Cardiomyopathy-cataract-hip spine disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Krasnow-Qazi syndrome"], "xref": ["GARD:0001102", "MEDGEN:419439", "MESH:C537616", "Orphanet:1345", "SCTID:720609003", "UMLS:C2931548"]}
{"category": ["biolink:Disease"], "description": "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.", "id": "MONDO:0015283", "name": "Maternally-inherited cardiomyopathy and hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["maternally-inherited cardiomyopathy and deafness", "tRNA-LYS-related cardiomyopathy-hearing loss syndrome"], "xref": ["GARD:0018719", "MEDGEN:1376897", "Orphanet:1349", "UMLS:C4510409"]}
{"category": ["biolink:Disease"], "description": "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).", "id": "MONDO:0015284", "name": "Heart-hand syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tabatznik syndrome", "atriodigital dysplasia type 2"], "xref": ["GARD:0009847", "MEDGEN:444030", "MESH:C536784", "Orphanet:1350", "SCTID:721010003", "UMLS:C2931323", "icd11.foundation:2111612055"]}
{"category": ["biolink:Disease"], "description": "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.", "id": "MONDO:0015285", "name": "Carney complex", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNC", "Carney complex", "Carney syndrome", "Carney's syndrome", "LAMB", "Myxoma-spotty pigmentation-endocrine overactivity syndrome", "atrial myxoma with lentigines", "lamb", "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome", "nevi, atrial myxoma, skin myxoma, ephelides syndrome"], "xref": ["DOID:0050471", "GARD:0001119", "ICD10CM:D44.8", "MEDGEN:140810", "MESH:D056733", "NANDO:1200756", "NCIT:C4705", "Orphanet:1359", "SCTID:733491005", "UMLS:C0406810", "icd11.foundation:1051158630"]}
{"category": ["biolink:Disease"], "description": "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.", "id": "MONDO:0015286", "name": "Congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CDG", "carbohydrate deficient glycoprotein syndrome", "carbohydrate-deficient glycoprotein syndrome", "congenital disorder of glycosylation"], "xref": ["DOID:5212", "GARD:0010307", "ICD9:271.8", "MEDGEN:76469", "MESH:D018981", "NCIT:C84615", "Orphanet:137", "SCTID:238049009", "UMLS:C0282577"]}
{"category": ["biolink:Disease"], "description": "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)", "id": "MONDO:0015288", "name": "Herpes simplex virus keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HSV keratitis", "Simplexvirus caused keratitis", "Simplexvirus keratitis", "dendritic keratitis", "herpetic keratitis"], "xref": ["DOID:0080158", "EFO:0007308", "GARD:0025063", "MEDGEN:5534", "NCIT:C34743", "Orphanet:137586", "SCTID:9389005", "UMLS:C0019357"]}
{"category": ["biolink:Disease"], "description": "Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.", "id": "MONDO:0015289", "name": "Infectious epithelial keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019877", "MEDGEN:1660649", "Orphanet:137593", "UMLS:C4749790", "icd11.foundation:2103923676"]}
{"category": ["biolink:Disease"], "description": "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.", "id": "MONDO:0015290", "name": "Neurotrophic keratopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neurotrophic keratitis"], "xref": ["GARD:0019878", "MEDGEN:87384", "MedDRA:10069732", "Orphanet:137596", "SCTID:128080005", "UMLS:C0339296", "icd11.foundation:1257534118"]}
{"category": ["biolink:Disease"], "description": "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.", "id": "MONDO:0015291", "name": "Stromal keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019879", "MEDGEN:727306", "Orphanet:137599", "UMLS:C1318020", "icd11.foundation:1665288755"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the endothelium.", "id": "MONDO:0015292", "name": "Endotheliitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["endothelium inflammation", "inflammation of endothelium"], "xref": ["GARD:0019880", "MEDGEN:602202", "Orphanet:137602", "UMLS:C0423262", "icd11.foundation:1363910196"]}
{"category": ["biolink:Disease"], "description": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.", "id": "MONDO:0015293", "name": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SOLAMEN syndrome"], "xref": ["GARD:0019881", "MEDGEN:1637405", "Orphanet:137608", "SCTID:763867001", "UMLS:C4706610"]}
{"category": ["biolink:Disease"], "description": "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.", "id": "MONDO:0015294", "name": "Nephrogenic systemic fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nephrogenic fibrosing dermopathy"], "xref": ["GARD:0009725", "ICD9:588.89", "MEDGEN:854737", "MESH:D054989", "MedDRA:10067467", "NCIT:C84920", "NORD:1498", "Orphanet:137617", "SCTID:424114000", "UMLS:C3888044", "icd11.foundation:1537082562"]}
{"category": ["biolink:Disease"], "description": "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.", "id": "MONDO:0015295", "name": "Intractable diarrhea-choanal atresia-eye anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019882", "MEDGEN:929976", "Orphanet:137622", "UMLS:C4304307"]}
{"category": ["biolink:Disease"], "description": "Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.", "id": "MONDO:0015296", "name": "Cardiac anomalies-heterotaxy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019883", "MEDGEN:929639", "Orphanet:137628", "UMLS:C4303970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015298", "name": "Pellucid marginal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0011895", "MEDGEN:573069", "Orphanet:137672", "UMLS:C0339288", "icd11.foundation:1662005062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015299", "name": "Asherman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Asherman syndrome", "Asherman's Syndrome", "intrauterine adhesions", "intrauterine synechiae"], "xref": ["GARD:0005853", "ICD10CM:N85.6", "MEDGEN:57629", "MedDRA:10022821", "MedDRA:10053868", "NORD:811", "Orphanet:137686", "SCTID:48236007", "UMLS:C0156372", "icd11.foundation:2022431339"]}
{"category": ["biolink:Disease"], "description": "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.", "id": "MONDO:0015300", "name": "Cataract - microcornea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001155", "MESH:C538287", "Orphanet:1377"]}
{"category": ["biolink:Disease"], "description": "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.", "id": "MONDO:0015301", "name": "Primary cutaneous amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["primary localised cutaneous amyloidosis", "primary localized cutaneous amyloidosis"], "xref": ["DOID:0050639", "GARD:0000132", "MEDGEN:120635", "MESH:C562642", "MedDRA:10011659", "NCIT:C199391", "Orphanet:137807", "SCTID:282834007", "UMLS:C0268397"]}
{"category": ["biolink:Disease"], "description": "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.", "id": "MONDO:0015302", "name": "Nodular cutaneous amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLCNA", "amyloidosis nodular localised cutaneous", "amyloidosis nodular localized cutaneous", "primary localised cutaneous nodular amyloidosis", "primary localized cutaneous nodular amyloidosis"], "xref": ["EFO:1001882", "GARD:0010562", "MEDGEN:900275", "MedDRA:10056953", "Orphanet:137810", "SCTID:716704007", "UMLS:C4274331"]}
{"category": ["biolink:Disease"], "description": "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.", "id": "MONDO:0015303", "name": "Macular amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019885", "MEDGEN:1372504", "Orphanet:137814", "UMLS:C0544839", "icd11.foundation:1192013809"]}
{"category": ["biolink:Disease"], "description": "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.", "id": "MONDO:0015304", "name": "Arachnoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adhesive arachnoiditis", "arachnoid mater inflammation", "chronic arachnoiditis", "inflammation of arachnoid mater"], "xref": ["DOID:12156", "GARD:0005839", "MEDGEN:8175", "MESH:D001100", "MedDRA:10003074", "NCIT:C37913", "NORD:800", "Orphanet:137817", "SCTID:13980006", "UMLS:C0003708", "icd11.foundation:414817254"]}
{"category": ["biolink:Disease"], "description": "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.", "id": "MONDO:0015306", "name": "Lemierre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Lemierre postanginal sepsis", "Lemierre syndrome", "postanginal sepsis secondary to orophyngeal infection", "septic phlebitis of the internal jugular vein"], "xref": ["DOID:11337", "GARD:0006882", "ICD9:040.3", "MEDGEN:6541", "MESH:D057831", "MedDRA:10065552", "Orphanet:137839", "SCTID:52542005", "UMLS:C0027537"]}
{"category": ["biolink:Disease"], "description": "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.", "id": "MONDO:0015307", "name": "Madras motor neuron disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMND"], "xref": ["GARD:0019887", "MEDGEN:581442", "Orphanet:137867", "UMLS:C0393551", "icd11.foundation:1764644031"]}
{"category": ["biolink:Disease"], "description": "Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.", "id": "MONDO:0015308", "name": "Laminopathy type decaudain-vigouroux", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laminopathy with severe metabolic syndrome and myopathy"], "xref": ["MEDGEN:1375333", "Orphanet:137871", "SCTID:724205009", "UMLS:C4518324", "icd11.foundation:815630778"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.", "id": "MONDO:0015311", "name": "Autism-facial port-wine stain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0010303", "Orphanet:137911"]}
{"category": ["biolink:Disease"], "description": "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.", "id": "MONDO:0015312", "name": "Choanal atresia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019889", "MEDGEN:1843076", "Orphanet:137917", "UMLS:C5680630", "icd11.foundation:1247369366"]}
{"category": ["biolink:Disease"], "description": "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.", "id": "MONDO:0015313", "name": "Choanal atresia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019890", "MEDGEN:870857", "Orphanet:137920", "UMLS:C4025317", "icd11.foundation:1138913171"]}
{"category": ["biolink:Disease"], "description": "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.", "id": "MONDO:0015314", "name": "Primary laryngeal lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019891", "MEDGEN:1634144", "Orphanet:137926", "SCTID:763617006", "UMLS:C4706521"]}
{"category": ["biolink:Disease"], "description": "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.", "id": "MONDO:0015315", "name": "Neonatal brainstem dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019892", "MEDGEN:1665998", "Orphanet:137929", "UMLS:C4749374"]}
{"category": ["biolink:Disease"], "description": "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.", "id": "MONDO:0015316", "name": "Congenital laryngeal palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital vocal cord paralysis"], "xref": ["GARD:0012713", "MEDGEN:96003", "Orphanet:137932", "UMLS:C0396058", "icd11.foundation:1508780420"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015317", "name": "Laryngotracheal angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019893", "ICD9:228.09", "MEDGEN:825419", "NCIT:C99086", "Orphanet:137935", "SCTID:703199001", "UMLS:C3839574"]}
{"category": ["biolink:Disease"], "description": "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.", "id": "MONDO:0015324", "name": "Cataract-intellectual disability-anal atresia-urinary defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Karandikar-Maria-Kamble syndrome"], "xref": ["GARD:0000192", "MEDGEN:419068", "MESH:C537009", "Orphanet:1381", "SCTID:715989002", "UMLS:C2931391"]}
{"category": ["biolink:Disease"], "description": "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.", "id": "MONDO:0015325", "name": "Cataract-deafness-hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Schaap-Taylor-Baraitser syndrome"], "xref": ["GARD:0000248", "MEDGEN:419760", "MESH:C536626", "Orphanet:1383", "SCTID:722378009", "UMLS:C2931269"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).", "id": "MONDO:0015326", "name": "Night blindness-skeletal anomalies-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hunter-Thompson-Reed syndrome"], "xref": ["GARD:0003994", "MEDGEN:1814437", "Orphanet:1390", "UMLS:C5679607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015327", "name": "Developmental anomaly of metabolic origin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019900", "MEDGEN:1826093", "Orphanet:139009", "UMLS:C5680623"]}
{"category": ["biolink:Disease"], "description": "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.", "id": "MONDO:0015333", "name": "Progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["progeria", "progeria or progeroid syndrome"], "xref": ["DOID:0081332", "GARD:0019906", "MEDGEN:1864204", "MESH:D011371", "NANDO:2100221", "OMIMPS:176670", "Orphanet:139033", "UMLS:C5848146", "icd11.foundation:926151882"]}
{"category": ["biolink:Disease"], "description": "A craniosynostosis that is not part of a larger syndrome.", "id": "MONDO:0015337", "name": "Isolated craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["nonsyndromic craniosynostosis"], "xref": ["MEDGEN:1863457", "NANDO:2200843", "Orphanet:139390", "UMLS:C5848302"]}
{"category": ["biolink:Disease"], "description": "A craniosynostosis that is part of a larger syndrome.", "id": "MONDO:0015338", "name": "Syndromic craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["syndrome associated with craniosynostosis", "syndromic craniosynostosis"], "xref": ["GARD:0019911", "MEDGEN:1842203", "Orphanet:139393", "UMLS:C5680624"]}
{"category": ["biolink:Disease"], "description": "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.", "id": "MONDO:0015339", "name": "Adrenomyeloneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AMN", "adrenomyeloneuropathy"], "xref": ["GARD:0010614", "ICD10CM:E71.522", "MEDGEN:315918", "NANDO:1200168", "NANDO:2201248", "Orphanet:139399", "SCTID:65389002", "UMLS:C1527231", "icd11.foundation:1214673956"]}
{"category": ["biolink:Disease"], "description": "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.", "id": "MONDO:0015340", "name": "Drug rash with eosinophilia and systemic symptoms", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DHS", "DRESS", "DRESS syndrome", "Drug hypersensitivity syndrome", "Drug reaction with eosinophilia and Systemic symptoms", "dress", "drug reaction eosinophilic systemic syndrome"], "xref": ["GARD:0013629", "ICD10CM:D72.12", "MEDGEN:762193", "MESH:D063926", "MedDRA:10058919", "NCIT:C112208", "Orphanet:139402", "SCTID:702809001", "UMLS:C3541994", "icd11.foundation:516577496"]}
{"category": ["biolink:Disease"], "description": "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.", "id": "MONDO:0015341", "name": "Congenital panfollicular nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital panfollicular nevus", "congenital panfollicular nevus (disease)"], "xref": ["GARD:0019912", "HP:0025471", "MEDGEN:1381094", "Orphanet:139414", "UMLS:C4476799"]}
{"category": ["biolink:Disease"], "description": "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).", "id": "MONDO:0015342", "name": "Acute transverse myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019913", "ICD9:323.9", "ICD9:341.20", "MEDGEN:82847", "MESH:D009188", "NCIT:C128378", "Orphanet:139417", "SCTID:47000000", "UMLS:C0270627"]}
{"category": ["biolink:Disease"], "description": "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.", "id": "MONDO:0015344", "name": "Idiopathic acute transverse myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ATM/TM"], "xref": ["GARD:0019914", "Orphanet:139423"]}
{"category": ["biolink:Disease"], "description": "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.", "id": "MONDO:0015345", "name": "Perioral myoclonia with absences", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["POMA"], "xref": ["GARD:0019915", "MEDGEN:1637328", "Orphanet:139426", "SCTID:766815007", "UMLS:C4707846", "icd11.foundation:1067045592"]}
{"category": ["biolink:Disease"], "description": "A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.", "id": "MONDO:0015346", "name": "Epilepsy with eyelid myoclonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EEM", "EMA", "EMEA", "Epilepsy with Eyelid Myoclonia", "Jeavons syndrome", "epilepsy with eyelid myoclonias", "eyelid myoclonia with and without absences"], "xref": ["GARD:0019916", "MEDGEN:901966", "MedDRA:10084303", "Orphanet:139431", "SCTID:716278005", "UMLS:C4274731", "icd11.foundation:262814036"]}
{"category": ["biolink:Disease"], "description": "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.", "id": "MONDO:0015347", "name": "Multicentric reticulohistiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["giant cell histiocytomatosis", "lipoid dermatoarthritis", "multicentric reticulohistiocytosis"], "xref": ["DOID:11824", "GARD:0007103", "ICD10CM:E78.81", "ICD9:272.8", "ICD9:713.0", "MEDGEN:86315", "MedDRA:10070595", "NCIT:C27896", "Orphanet:139436", "SCTID:84241008", "UMLS:C0311284", "icd11.foundation:977116795"]}
{"category": ["biolink:Disease"], "description": "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.", "id": "MONDO:0015348", "name": "Leukoencephalopathy with bilateral anterior temporal lobe cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019917", "MEDGEN:930413", "Orphanet:139444", "UMLS:C4304744", "icd11.foundation:138159250"]}
{"category": ["biolink:Disease"], "description": "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.", "id": "MONDO:0015349", "name": "Progressive cavitating leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019918", "MEDGEN:930509", "Orphanet:139447", "SCTID:719267003", "UMLS:C4304840", "icd11.foundation:340540374"]}
{"category": ["biolink:Disease"], "description": "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.", "id": "MONDO:0015350", "name": "17q11.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Grisart-Destree syndrome", "Grisart-Destrée syndrome", "Nf1 Microduplication Syndrome", "chromosome 17q11.2 duplication syndrome, 1.4-mb", "dup(17)(q11.2)", "trisomy 17q11.2"], "xref": ["GARD:0016952", "MEDGEN:501218", "OMIM:618874", "Orphanet:139474", "SCTID:719583002", "UMLS:C3495679"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.", "id": "MONDO:0015351", "name": "Neuropathy with hearing impairment", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019919", "MEDGEN:1375726", "Orphanet:139512", "SCTID:723497003", "UMLS:C4509933", "icd11.foundation:129297527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015352", "name": "Distal hereditary motor neuropathy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dHMN2", "dSMA2", "distal spinal muscular atrophy type 2"], "xref": ["DOID:0111206", "GARD:0016954", "MEDGEN:777992", "MESH:C580044", "Orphanet:139525", "UMLS:C3711384", "icd11.foundation:152961055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015353", "name": "Neuronopathy, distal hereditary motor, type 5a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HMN 5A", "HMN5A", "dHMN 5A", "neuronopathy, distal hereditary motor, type 5A", "neuronopathy, distal hereditary motor, type VA", "neuropathy, distal hereditary motor, type 5A", "spinal muscular atrophy, distal, type 5A", "spinal muscular atrophy, distal, with upper limb predominance"], "xref": ["DOID:0111204", "GARD:0018266", "OMIM:600794"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.", "id": "MONDO:0015354", "name": "Hereditary sensory and autonomic neuropathy with deafness and global delay", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HSAN with deafness and global delay"], "xref": ["GARD:0019920", "MEDGEN:929235", "Orphanet:139573", "SCTID:717826009", "UMLS:C4303566"]}
{"category": ["biolink:Disease"], "description": "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.", "id": "MONDO:0015355", "name": "Distal hereditary motor neuropathy type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dHMN7", "distal spinal muscular atrophy with vocal cord paralysis"], "xref": ["DOID:0111199", "GARD:0016960", "MEDGEN:1662655", "Orphanet:139589", "UMLS:C4749653", "icd11.foundation:80361835"]}
{"category": ["biolink:Disease"], "description": "The inherited predisposition toward getting a tumor.", "id": "MONDO:0015356", "name": "Hereditary neoplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["cancer syndrome, hereditary", "cancer syndromes, hereditary", "familial neoplastic syndrome", "familial tumor syndrome", "familial tumour syndrome", "hereditary cancer syndrome", "hereditary cancer syndromes", "hereditary neoplastic syndrome", "hereditary neoplastic syndromes", "hereditary tumor syndrome", "hereditary tumour syndrome", "inherited cancer syndrome", "inherited cancer-predisposing syndrome", "neoplastic syndrome, hereditary", "syndrome, hereditary cancer", "syndrome, hereditary neoplastic", "syndromes, hereditary cancer", "syndromes, hereditary neoplastic"], "xref": ["GARD:0019921", "MEDGEN:14326", "MESH:D009386", "NCIT:C3266", "Orphanet:140162", "SCTID:699346009", "UMLS:C0027672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015357", "name": "Secondary hypoparathyroidism due to impaired parathormon secretion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019922", "MEDGEN:931097", "Orphanet:140286", "UMLS:C4305428", "icd11.foundation:1229357339"]}
{"category": ["biolink:Disease"], "description": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)", "id": "MONDO:0015358", "name": "Hereditary motor and sensory neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HMSN"], "xref": ["GARD:0012685", "ICD10CM:G60.0", "MEDGEN:45066", "MESH:D015417", "NANDO:2200855", "Orphanet:140450", "SCTID:398100001", "UMLS:C0027888", "icd11.foundation:1538134578"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of distal hereditary motor neuropathy.", "id": "MONDO:0015362", "name": "Neuronopathy, distal hereditary motor, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant dHMN", "autosomal dominant distal hereditary motor neuropathy", "autosomal dominant distal spinal muscular atrophy", "distal hereditary motor neuropathy, autosomal dominant"], "xref": ["DOID:0111198", "GARD:0019926", "MEDGEN:1787720", "OMIMPS:182960", "Orphanet:140465", "UMLS:C5548212"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of distal hereditary motor neuropathy.", "id": "MONDO:0015363", "name": "Neuronopathy, distal hereditary motor, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive dHMN", "autosomal recessive dSMA", "autosomal recessive distal hereditary motor neuropathy", "autosomal recessive distal spinal muscular atrophy", "distal hereditary motor neuropathy, autosomal recessive"], "xref": ["DOID:0111197", "GARD:0019927", "MEDGEN:1779821", "OMIMPS:604320", "Orphanet:140468", "UMLS:C5548369"]}
{"category": ["biolink:Disease"], "description": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0015364", "name": "Hereditary sensory and autonomic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HSAN", "hereditary sensory and autonomic neuropathy", "hereditary sensory neuropathy", "hereditary sensory peripheral neuropathy"], "xref": ["DOID:0050548", "GARD:0012688", "ICD9:356.2", "MEDGEN:14355", "MESH:D009477", "OMIMPS:162400", "Orphanet:140471", "SCTID:11442006", "UMLS:C0027889", "icd11.foundation:1091217288"]}
{"category": ["biolink:Disease"], "description": "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.", "id": "MONDO:0015367", "name": "Charlie m syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001261", "MEDGEN:1379887", "Orphanet:1406", "SCTID:733034007", "UMLS:C4518555", "icd11.foundation:1284734481"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.", "id": "MONDO:0015369", "name": "Joubert syndrome and related disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["JSRD", "Joubert syndrome and related disorders"], "xref": ["GARD:0019931", "MEDGEN:1826007", "NANDO:1200661", "NANDO:2100218", "NANDO:2200824", "Orphanet:140874", "UMLS:C5679612"]}
{"category": ["biolink:Disease"], "description": "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.", "id": "MONDO:0015371", "name": "Linear atrophoderma of moulin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019932", "MEDGEN:698076", "Orphanet:140933", "SCTID:403395007", "UMLS:C1274753", "icd11.foundation:1116101506"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.", "id": "MONDO:0015372", "name": "Autosomal dominant macrothrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016965", "MEDGEN:929690", "Orphanet:140957", "SCTID:720521008", "UMLS:C4304021"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015374", "name": "Primary central nervous system vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PACNS", "PCNSV", "isolated angiitis of the central nervous system", "primary angiitis of the central nervous system", "primary central nervous system vasculitis", "primary vasculitis of the central nervous system"], "xref": ["GARD:0008703", "MEDGEN:419271", "MESH:C537295", "Orphanet:140989", "UMLS:C2930862", "icd11.foundation:2130738127"]}
{"category": ["biolink:Disease"], "description": "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.", "id": "MONDO:0015375", "name": "Orofaciodigital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["OFD", "Oral-Facial-Digital Syndrome", "oral-facial-digital syndrome", "orofaciodigital syndrome"], "xref": ["DOID:4501", "GARD:0010692", "ICD9:759.89", "MEDGEN:14518", "MESH:D009958", "NANDO:1201051", "NORD:1529", "OMIMPS:311200", "Orphanet:140997", "SCTID:52868006", "UMLS:C0029294", "icd11.foundation:1405407847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015376", "name": "First branchial cleft anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["first branchial cleft cyst", "first branchial cleft fistula"], "xref": ["GARD:0019934", "MEDGEN:848144", "Orphanet:141013", "SCTID:73371000119103", "UMLS:C3874320", "icd11.foundation:1956658224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015377", "name": "Third branchial cleft anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["third branchial cleft cyst", "third branchial cleft fistula"], "xref": ["GARD:0019935", "MEDGEN:850398", "Orphanet:141030", "SCTID:73391000119102", "UMLS:C3874314"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015378", "name": "Fourth branchial cleft anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fourth branchial cleft cyst", "fourth branchial cleft fistula"], "xref": ["GARD:0019936", "MEDGEN:837698", "Orphanet:141037", "SCTID:707234001", "UMLS:C3873490"]}
{"category": ["biolink:Disease"], "description": "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.", "id": "MONDO:0015379", "name": "Cervical dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dermoid cyst of the neck"], "xref": ["GARD:0019937", "MEDGEN:1643725", "Orphanet:141046", "SCTID:763129001", "UMLS:C4706299"]}
{"category": ["biolink:Disease"], "description": "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.", "id": "MONDO:0015380", "name": "Facial dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dermoid cyst of the face"], "xref": ["GARD:0019938", "MEDGEN:1646552", "Orphanet:141051", "SCTID:763220008", "UMLS:C4706321"]}
{"category": ["biolink:Disease"], "description": "A rare otorhinolaryngologic disease characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.", "id": "MONDO:0015381", "name": "Commissural lip fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cysts and fistulae of the face and oral cavity of labial commissure", "labial commissure cysts and fistulae of the face and oral cavity"], "xref": ["GARD:0019939", "MEDGEN:1809431", "Orphanet:141061", "UMLS:C5680634", "icd11.foundation:27017896"]}
{"category": ["biolink:Disease"], "description": "A rare otorhinolaryngologic disease characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.", "id": "MONDO:0015382", "name": "Lower lip fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cysts and fistulae of the face and oral cavity of lower lip", "lower lip cysts and fistulae of the face and oral cavity"], "xref": ["GARD:0019940", "MEDGEN:698113", "Orphanet:141064", "UMLS:C1274792", "icd11.foundation:230523092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015383", "name": "Cervicofacial fibrochondroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervicofacial enchondroma"], "xref": ["GARD:0019941", "MEDGEN:1684766", "Orphanet:141067", "UMLS:C5231314", "icd11.foundation:427530222"]}
{"category": ["biolink:Disease"], "description": "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.", "id": "MONDO:0015384", "name": "Digestive duplication cyst of the tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cysts and fistulae of the face and oral cavity of tongue", "enteric duplication cyst of the tongue", "foregut duplication cyst of the tongue", "gastric duplication cyst of the tongue", "tongue cysts and fistulae of the face and oral cavity"], "xref": ["GARD:0019942", "MEDGEN:1393450", "Orphanet:141071", "UMLS:C4512051"]}
{"category": ["biolink:Disease"], "description": "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.", "id": "MONDO:0015386", "name": "Epignathus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Epignathus", "epignathus (disease)", "oropharyngeal teratoma"], "xref": ["GARD:0019943", "HP:0030767", "MEDGEN:540117", "Orphanet:141077", "SCTID:31248004", "UMLS:C0266725", "icd11.foundation:7319064"]}
{"category": ["biolink:Disease"], "description": "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.", "id": "MONDO:0015387", "name": "Nasolacrimal duct cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dacryocele", "nasolacrimal mucocele"], "xref": ["GARD:0019944", "MEDGEN:1810477", "Orphanet:141083", "UMLS:C5575612"]}
{"category": ["biolink:Disease"], "description": "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.", "id": "MONDO:0015388", "name": "Polyrrhinia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Double nose", "Polyrhinia"], "xref": ["GARD:0019945", "MEDGEN:894825", "Orphanet:141091", "SCTID:716279002", "UMLS:C4274730", "icd11.foundation:142812177"]}
{"category": ["biolink:Disease"], "description": "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.", "id": "MONDO:0015389", "name": "Supernumerary nostril", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["accessory nostril", "supernumerary naris"], "xref": ["GARD:0019946", "HP:0009934", "MEDGEN:867014", "Orphanet:141096", "SCTID:719163006", "UMLS:C4021372", "icd11.foundation:306735786"]}
{"category": ["biolink:Disease"], "description": "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.", "id": "MONDO:0015390", "name": "Proboscis lateralis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital tubular nose"], "xref": ["GARD:0019947", "MEDGEN:900031", "Orphanet:141099", "SCTID:715828006", "UMLS:C4274985", "icd11.foundation:646148612"]}
{"category": ["biolink:Disease"], "description": "A teratoma that involves the nasopharynx.", "id": "MONDO:0015391", "name": "Nasopharyngeal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["nasopharynx teratoma", "teratoma of the nasopharynx"], "xref": ["GARD:0019948", "MEDGEN:1625954", "NCIT:C202982", "Orphanet:141107", "UMLS:C4531264", "icd11.foundation:1597380817"]}
{"category": ["biolink:Disease"], "description": "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.", "id": "MONDO:0015392", "name": "Nasal glial heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nasal glioma"], "xref": ["GARD:0019949", "ICD9:748.1", "MEDGEN:539951", "Orphanet:141112", "SCTID:5645008", "UMLS:C0266490", "icd11.foundation:1449384774"]}
{"category": ["biolink:Disease"], "description": "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.", "id": "MONDO:0015393", "name": "Nasal ganglioglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019950", "MEDGEN:1786513", "Orphanet:141115", "UMLS:C5548206", "icd11.foundation:40917416"]}
{"category": ["biolink:Disease"], "description": "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.", "id": "MONDO:0015394", "name": "Nasal encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019951", "MEDGEN:507680", "Orphanet:141118", "SCTID:65455002", "UMLS:C0014066", "icd11.foundation:884932601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015395", "name": "Congenital subglottic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019952", "ICD10CM:Q31.1", "ICD9:748.3", "MEDGEN:97973", "NANDO:1201004", "NANDO:2200190", "Orphanet:141121", "SCTID:204552001", "UMLS:C0396051", "icd11.foundation:76585642"]}
{"category": ["biolink:Disease"], "description": "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.", "id": "MONDO:0015396", "name": "Congenital laryngeal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019953", "MEDGEN:451040", "Orphanet:141124", "SCTID:765763007", "UMLS:C0339880", "icd11.foundation:591042640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015397", "name": "Craniofacial microsomia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Expanded spectrum hemifacial microsomia", "Expanded spectrum of hemifacial microsomia", "Goldenhar disease", "Goldenhar syndrome", "HFM", "Laterofacial microsomia", "OAV dysplasia", "OAV spectrum", "OAVS", "facioauriculovertebral dysplasia", "first branchial arch syndrome", "hemifacial microsomia", "oculo-auriculo-vertebral spectrum", "oculoauriculovertebral dysplasia", "oculoauriculovertebral spectrum", "oculoauriculovertebral syndrome", "otomandibular syndrome", "unilateral or bilateral and asymmetric otomandibular dysplasia"], "xref": ["DOID:2907", "GARD:0012074", "ICD9:759.89", "MEDGEN:75554", "MESH:D006053", "NCIT:C84740", "OMIMPS:164210", "Orphanet:141132", "Orphanet:141136", "Orphanet:374", "SCTID:109393007", "SCTID:367462009", "UMLS:C0265240"]}
{"category": ["biolink:Disease"], "description": "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.", "id": "MONDO:0015399", "name": "Glossopalatine ankylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cosack syndrome"], "xref": ["GARD:0019954", "MEDGEN:929238", "Orphanet:141163", "SCTID:717814004", "UMLS:C4303569", "icd11.foundation:1608847387"]}
{"category": ["biolink:Disease"], "description": "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.", "id": "MONDO:0015400", "name": "Frontonasal arteriovenous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019955", "MEDGEN:824839", "Orphanet:141168", "UMLS:C3838993", "icd11.foundation:1779519580"]}
{"category": ["biolink:Disease"], "description": "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.", "id": "MONDO:0015401", "name": "Maxillary arteriovenous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["arteriovenous malformation of maxilla"], "xref": ["GARD:0019956", "MEDGEN:825655", "Orphanet:141171", "SCTID:703335004", "UMLS:C3839810", "icd11.foundation:1755286955"]}
{"category": ["biolink:Disease"], "description": "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.", "id": "MONDO:0015402", "name": "Mandibular arteriovenous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["arteriovenous malformation of mandible"], "xref": ["GARD:0019957", "MEDGEN:825297", "Orphanet:141174", "SCTID:703334000", "UMLS:C3839452", "icd11.foundation:113998538"]}
{"category": ["biolink:Disease"], "description": "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).", "id": "MONDO:0015403", "name": "Non-involuting congenital hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NICH", "noninvoluting congenital hemangioma"], "xref": ["GARD:0010890", "MEDGEN:698685", "NCIT:C172208", "Orphanet:141179", "SCTID:703295003", "UMLS:C1275417"]}
{"category": ["biolink:Disease"], "description": "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.", "id": "MONDO:0015404", "name": "Rapidly involuting congenital hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RICH", "rich"], "xref": ["DOID:0080895", "GARD:0019958", "MEDGEN:698687", "NCIT:C172207", "Orphanet:141184", "SCTID:703294004", "UMLS:C1275421"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.", "id": "MONDO:0015405", "name": "Cerebrofacial arteriovenous metameric syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAMS"], "xref": ["GARD:0012662", "MEDGEN:825110", "Orphanet:141189", "SCTID:703266007", "UMLS:C3839265", "icd11.foundation:1402414905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015406", "name": "Cerebrofacial arteriovenous metameric syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CAMS1"], "xref": ["GARD:0019959", "MEDGEN:825947", "Orphanet:141194", "SCTID:703267003", "UMLS:C3840102", "icd11.foundation:796738143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015407", "name": "Cerebrofacial arteriovenous metameric syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CAMS3"], "xref": ["GARD:0019960", "MEDGEN:824537", "Orphanet:141199", "SCTID:703268008", "UMLS:C3838691", "icd11.foundation:1048965538"]}
{"category": ["biolink:Disease"], "description": "A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.", "id": "MONDO:0015408", "name": "Diffuse lymphatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GLA", "Gla", "diffuse lymphangioma", "diffuse lymphangiomatosis", "disseminated lymphangioma", "disseminated lymphangiomatosis", "disseminated lymphatic malformation", "generalised lymphatic anomaly", "generalized lymphatic anomaly"], "xref": ["DOID:0081031", "GARD:0019961", "MEDGEN:825766", "NANDO:1200879", "NANDO:2201033", "Orphanet:141209", "SCTID:703298001", "UMLS:C3839921", "icd11.foundation:913891613"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.", "id": "MONDO:0015409", "name": "Isolated congenital syngnathia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated congenital maxillomandibular fusion"], "xref": ["GARD:0019962", "MEDGEN:1635309", "Orphanet:141214", "SCTID:763317002", "UMLS:C4706392"]}
{"category": ["biolink:Disease"], "description": "A rare otorhinolaryngologic disease characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.", "id": "MONDO:0015410", "name": "Nasal dorsum fistula/cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019963", "MEDGEN:573381", "Orphanet:141219", "UMLS:C0339853"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.", "id": "MONDO:0015411", "name": "Facial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cleft face", "craniofacial cleft"], "xref": ["GARD:0019964", "MEDGEN:146898", "NCIT:C124510", "Orphanet:141229", "SCTID:92821006", "UMLS:C0685787", "icd11.foundation:11389088"]}
{"category": ["biolink:Disease"], "description": "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.", "id": "MONDO:0015413", "name": "Median cleft of the upper lip and maxilla", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019966", "MEDGEN:784645", "Orphanet:141239", "UMLS:C3697381"]}
{"category": ["biolink:Disease"], "description": "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.", "id": "MONDO:0015414", "name": "Paramedian nasal cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Tessier number 1 cleft", "alar cleft", "alar rim cleft", "cleft nose", "isolated cleft of the ala nasi", "isolated coloboma of the nose"], "xref": ["GARD:0016973", "ICD9:748.1", "MEDGEN:1681273", "Orphanet:141242", "SCTID:204521002", "UMLS:C4759655", "icd11.foundation:1147502981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015416", "name": "Tessier number 5 facial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019968", "MEDGEN:609364", "Orphanet:141261", "UMLS:C0432119", "icd11.foundation:2138256187"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015417", "name": "Tessier number 6 facial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019969", "MEDGEN:609365", "Orphanet:141265", "UMLS:C0432120", "icd11.foundation:1934815559"]}
{"category": ["biolink:Disease"], "description": "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.", "id": "MONDO:0015419", "name": "Midline cervical cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019971", "ICD9:744.89", "MEDGEN:1374384", "Orphanet:141288", "SCTID:403557001", "UMLS:C4479645", "icd11.foundation:1138096311"]}
{"category": ["biolink:Disease"], "description": "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.", "id": "MONDO:0015420", "name": "Cleft lip and alveolus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016976", "ICD9:525.8", "MEDGEN:720590", "Orphanet:141291", "SCTID:373643003", "UMLS:C1298692", "icd11.foundation:1653169553"]}
{"category": ["biolink:Disease"], "description": "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.", "id": "MONDO:0015421", "name": "Orofaciodigital syndrome type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Moran-Barroso syndrome", "OFD12", "oral-facial-digital syndrome type 12"], "xref": ["GARD:0010693", "MEDGEN:420948", "MESH:C548034", "Orphanet:141327", "SCTID:763834000", "UMLS:C2932679"]}
{"category": ["biolink:Disease"], "description": "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.", "id": "MONDO:0015425", "name": "Lethal recessive chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Maroteaux-Stanescu-Cousin syndrome", "chondrodysplasia lethal recessive"], "xref": ["GARD:0003399", "MEDGEN:930414", "Orphanet:1423", "SCTID:719404009", "UMLS:C4304745", "icd11.foundation:550352998"]}
{"category": ["biolink:Disease"], "description": "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.", "id": "MONDO:0015426", "name": "Desbuquois dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DBQD", "Desbuquois dysplasia", "desbuquois syndrome"], "xref": ["DOID:0060462", "GARD:0001818", "ICD9:756.9", "MEDGEN:98479", "NCIT:C124056", "OMIMPS:251450", "Orphanet:1425", "SCTID:254099008", "UMLS:C0432242"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).", "id": "MONDO:0015427", "name": "Paroxysmal dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["paroxysmal choreoathetosis", "paroxysmal dystonic choreoathetosis"], "xref": ["GARD:0018721", "ICD9:333.5", "MEDGEN:156242", "Orphanet:1431", "SCTID:49949003", "UMLS:C0752210"]}
{"category": ["biolink:Disease"], "description": "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.", "id": "MONDO:0015428", "name": "Choroidal atrophy-alopecia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moloney syndrome", "regional choroidal atrophy and alopecia"], "xref": ["GARD:0003704", "MEDGEN:419316", "MESH:C535810", "Orphanet:1433", "SCTID:720850008", "UMLS:C2931026"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.", "id": "MONDO:0015430", "name": "Ring chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring 1", "Ring chromosome type 1", "r(1) syndrome"], "xref": ["GARD:0001320", "GTR:AN0102272", "MEDGEN:539215", "MESH:C535361", "NCIT:C36474", "Orphanet:1437", "SCTID:47017007", "UMLS:C0265395"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.", "id": "MONDO:0015431", "name": "Ring chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 10"], "xref": ["GARD:0001322", "MEDGEN:539252", "MESH:C538086", "Orphanet:1438", "SCTID:86997002", "UMLS:C0265438"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.", "id": "MONDO:0015432", "name": "Ring chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type 12"], "xref": ["GARD:0001325", "MEDGEN:162879", "MESH:C538298", "Orphanet:1439", "UMLS:C0795843"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.", "id": "MONDO:0015433", "name": "Ring chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 17"], "xref": ["GARD:0004724", "MEDGEN:419477", "MESH:C538046", "Orphanet:1441", "UMLS:C2931714"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.", "id": "MONDO:0015434", "name": "Ring chromosome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 18 Ring", "Ring chromosome type 18"], "xref": ["GARD:0006077", "MEDGEN:539285", "MESH:C538304", "NORD:943", "Orphanet:1442", "SCTID:88154004", "UMLS:C0265475"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.", "id": "MONDO:0015435", "name": "Ring chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 19"], "xref": ["GARD:0001333", "MEDGEN:419501", "MESH:C538310", "Orphanet:1443", "SCTID:765484001", "UMLS:C2931812"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.", "id": "MONDO:0015436", "name": "Ring chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ring chromosome 20 syndrome", "ring chromosome type 20"], "xref": ["DOID:0070622", "GARD:0001334", "ICD9:758.89", "MEDGEN:489853", "MESH:C580424", "NANDO:1200597", "NCIT:C169001", "Orphanet:1444", "SCTID:23686004", "UMLS:C0265482"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.", "id": "MONDO:0015437", "name": "Ring chromosome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 21 Ring", "Ring chromosome type 21", "chromosome 21 en anneau"], "xref": ["GARD:0006083", "MEDGEN:419409", "MESH:C537109", "NORD:947", "Orphanet:1445", "SCTID:31325007", "UMLS:C2931422"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.", "id": "MONDO:0015438", "name": "Ring chromosome 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 22 Ring", "Ring chromosome type 22", "r(22) syndrome"], "xref": ["GARD:0001336", "MEDGEN:539299", "MESH:C536795", "NORD:948", "Orphanet:1446", "SCTID:13555004", "UMLS:C0265492"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.", "id": "MONDO:0015439", "name": "Ring chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type 4", "r(4) syndrome", "rose cluster 4", "syndrome r(4)"], "xref": ["GARD:0001339", "MEDGEN:75571", "MESH:C537636", "NCIT:C121983", "NORD:1671", "Orphanet:1447", "SCTID:81678004", "UMLS:C0265407"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.", "id": "MONDO:0015440", "name": "Ring chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 6 Ring", "Ring chromosome type 6", "rose cluster 6"], "xref": ["GARD:0006095", "MEDGEN:167069", "MESH:C537763", "NCIT:C121985", "NORD:958", "Orphanet:1448", "SCTID:765488003", "UMLS:C0795814"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).", "id": "MONDO:0015441", "name": "Ring chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type 7", "rose cluster 7"], "xref": ["GARD:0001345", "MEDGEN:419454", "MESH:C537813", "NCIT:C121986", "Orphanet:1449", "SCTID:765489006", "UMLS:C2931622"]}
{"category": ["biolink:Disease"], "description": "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.", "id": "MONDO:0015443", "name": "Chromosome 8-derived supernumerary ring/marker", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring 8", "r(8) syndrome", "ring chromosome 8", "rose cluster 8", "supernumerary ring/marker 8"], "xref": ["GARD:0001347", "GTR:AN0101479", "GTR:AN0101480", "MEDGEN:895673", "MESH:C537824", "NCIT:C121988", "Orphanet:1450", "SCTID:715983001", "UMLS:C4274902"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of aorta coarctation.", "id": "MONDO:0015445", "name": "Autosomal dominant coarctation of aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["aorta coarctation, autosomal dominant", "autosomal dominant aorta coarctation"], "xref": ["GARD:0018722", "MEDGEN:443900", "Orphanet:1455", "UMLS:C2930803"]}
{"category": ["biolink:Disease"], "description": "Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).", "id": "MONDO:0015446", "name": "Atypical coarctation of aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Midaortic syndrome", "coarctation of the abdominal aorta", "mid-aortic dysplastic syndrome", "mid-aortic syndrome", "middle aortic syndrome"], "xref": ["GARD:0018723", "MEDGEN:758831", "NANDO:2200284", "Orphanet:1456", "SCTID:471268000", "UMLS:C3496579", "icd11.foundation:480830042"]}
{"category": ["biolink:Disease"], "description": "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.", "id": "MONDO:0015447", "name": "Differentiated thyroid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["differentiated thyroid cancer", "differentiated thyroid carcinoma", "differentiated thyroid gland cancer", "differentiated thyroid gland carcinoma", "papillary or follicular thyroid carcinoma", "thyroid gland differentiated carcinoma", "thyroid gland well differentiated carcinoma", "well differentiated thyroid carcinoma", "well differentiated thyroid gland carcinoma", "well-differentiated thyroid cancer", "well-differentiated thyroid carcinoma"], "xref": ["DOID:0080525", "EFO:1002017", "GARD:0012027", "MEDGEN:277876", "NCIT:C7153", "ONCOTREE:WDTC", "Orphanet:146", "UMLS:C1337013"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).", "id": "MONDO:0015448", "name": "Mitochondrial complex iii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated CoQ-cytochrome C reductase deficiency", "isolated coenzyme Q-cytochrome C reductase deficiency", "isolated mitochondrial respiratory chain complex III deficiency", "isolated ubiquinone-cytochrome C reductase deficiency", "mitochondrial respiratory chain complex III deficiency"], "xref": ["DOID:0111139", "GARD:0008295", "MEDGEN:377658", "Orphanet:1460", "UMLS:C1852372"]}
{"category": ["biolink:Disease"], "description": "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.", "id": "MONDO:0015449", "name": "Criss-cross heart", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["criss-cross atrioventricular relationships", "superoinferior ventricles", "twisted atrioventricular connections"], "xref": ["GARD:0018724", "ICD9:746.89", "MEDGEN:8181", "MESH:D003420", "Orphanet:1461", "SCTID:253269002", "UMLS:C0010334", "icd11.foundation:856695997"]}
{"category": ["biolink:Disease"], "description": "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.", "id": "MONDO:0015450", "name": "Triatrial heart", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Cor Triatriatum", "Cor triatriatum"], "xref": ["GARD:0006194", "ICD10CM:Q24.2", "ICD9:746.82", "MEDGEN:3238", "NANDO:2100083", "NANDO:2200263", "NCIT:C84651", "NORD:1007", "Orphanet:1463", "SCTID:55510008", "UMLS:C0009995"]}
{"category": ["biolink:Disease"], "description": "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.", "id": "MONDO:0015451", "name": "Univentricular heart", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Double inlet left ventricle"], "xref": ["GARD:0018725", "ICD9:746.89", "MEDGEN:488862", "MESH:D000080039", "MedDRA:10045545", "NANDO:1200704", "NANDO:2200250", "Orphanet:1464", "SCTID:253283000", "UMLS:C0344622", "icd11.foundation:1786413029"]}
{"category": ["biolink:Disease"], "description": "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.", "id": "MONDO:0015452", "name": "Coffin-siris syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CSS", "Coffin-Siris syndrome"], "xref": ["DOID:1925", "GARD:0006124", "ICD9:759.89", "MEDGEN:75565", "MESH:C536436", "NANDO:1200670", "NANDO:2200977", "NCIT:C35321", "NORD:984", "OMIMPS:135900", "Orphanet:1465", "SCTID:10007009", "UMLS:C0265338", "icd11.foundation:734451870"]}
{"category": ["biolink:Disease"], "description": "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.", "id": "MONDO:0015453", "name": "Cogan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cogan syndrome"], "xref": ["DOID:0060216", "GARD:0001421", "MEDGEN:82871", "MESH:D055952", "MedDRA:10056667", "Orphanet:1467", "SCTID:405810005", "UMLS:C0271270", "icd11.foundation:2098089327"]}
{"category": ["biolink:Disease"], "description": "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.", "id": "MONDO:0015454", "name": "Multiple carboxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MCD", "multiple carboxylase deficiency"], "xref": ["DOID:857", "GARD:0003824", "ICD10CM:D81.81", "ICD10CM:D81.819", "MEDGEN:10119", "MESH:D009100", "MedDRA:10028176", "NANDO:1200820", "NANDO:2200500", "Orphanet:148", "UMLS:C0026755", "icd11.foundation:1133091451"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.", "id": "MONDO:0015455", "name": "Gonococcal conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["conjunctivitis gonococcal", "gonococcal ophthalmia neonatorum"], "xref": ["GARD:0002546", "ICD10CM:A54.31", "MEDGEN:1830271", "NCIT:C116816", "Orphanet:1482", "SCTID:231858009", "UMLS:C5779547", "icd11.foundation:884042621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015457", "name": "Corpus callosum agenesis-double urinary collecting system syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Ben Ari-Shuper-Mimouni syndrome", "corpus callosum agenesis-double urinary collecting system syndrome"], "xref": ["GARD:0001536", "MEDGEN:419659", "MESH:C535427", "Orphanet:1492", "UMLS:C2930897"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.", "id": "MONDO:0015458", "name": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Da Silva syndrome"], "xref": ["GARD:0012487", "MEDGEN:928199", "Orphanet:1495", "SCTID:722455002", "UMLS:C4302530"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.", "id": "MONDO:0015459", "name": "Nasopharyngeal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NPC", "carcinoma of nasopharynx", "carcinoma of the nasopharynx", "nasopharyngeal carcinoma", "nasopharynx carcinoma", "squamous cell carcinoma of the nasopharynx"], "xref": ["DOID:9261", "GARD:0007163", "ICD9:147", "ICD9:147.0", "ICD9:147.1", "ICD9:147.2", "ICD9:147.3", "MEDGEN:419909", "MESH:C538339", "MESH:D00007727", "MESH:D000077274", "MedDRA:10028793", "NCIT:C3871", "ONCOTREE:NPC", "Orphanet:150", "SCTID:363398003", "UMLS:C2931822", "icd11.foundation:1883313543"]}
{"category": ["biolink:Disease"], "description": "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).", "id": "MONDO:0015461", "name": "Short rib-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018726", "ICD9:756.3", "MEDGEN:11412", "MESH:D012779", "NCIT:C85065", "Orphanet:1505", "SCTID:205484001", "UMLS:C0036996", "icd11.foundation:960900212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015462", "name": "Thin ribs-tubular bones-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sharma-Kapoor-Ramji syndrome"], "xref": ["GARD:0018727", "MEDGEN:419105", "MESH:C537595", "Orphanet:1506", "UMLS:C2931543"]}
{"category": ["biolink:Disease"], "description": "Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.", "id": "MONDO:0015463", "name": "Craniodigital syndrome-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Scott craniodigital syndrome", "Scott-Bryant-Graham syndrome"], "xref": ["GARD:0004776", "MEDGEN:333293", "MESH:C537528", "OMIM:312860", "Orphanet:1514", "SCTID:763665007", "UMLS:C1839311"]}
{"category": ["biolink:Disease"], "description": "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.", "id": "MONDO:0015464", "name": "Craniofrontonasal dysplasia-poland anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Webster-Deming syndrome"], "xref": ["GARD:0000428", "MEDGEN:929528", "Orphanet:1521", "SCTID:720757001", "UMLS:C4303859"]}
{"category": ["biolink:Disease"], "description": "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.", "id": "MONDO:0015465", "name": "Craniometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080033", "GARD:0015013", "ICD9:756.89", "MEDGEN:82702", "NANDO:2201366", "NORD:1013", "OMIMPS:123000", "Orphanet:1522", "SCTID:36601008", "UMLS:C0265292", "icd11.foundation:305860050"]}
{"category": ["biolink:Disease"], "description": "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.", "id": "MONDO:0015466", "name": "Cranio-osteoarthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Currarino disease", "Currarino idiopathic osteoarthropathy", "Reginato-Schiapachasse syndrome"], "xref": ["GARD:0001564", "MEDGEN:394824", "Orphanet:1525", "SCTID:720753002", "UMLS:C2678439", "icd11.foundation:225223076"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.", "id": "MONDO:0015467", "name": "Craniosynostosis, philadelphia type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001601", "MEDGEN:321988", "MESH:C563368", "Orphanet:1527", "SCTID:720818003", "UMLS:C1832590", "icd11.foundation:234032200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015468", "name": "Craniosynostosis-cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["Orphanet:1530"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.", "id": "MONDO:0015469", "name": "Craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["craniosynostosis syndrome", "premature closure of cranial sutures"], "xref": ["DOID:2340", "GARD:0006209", "ICD10CM:Q75.0", "MEDGEN:1163", "MESH:D003398", "MedDRA:10048907", "MedDRA:10049889", "NANDO:2100227", "NCIT:C84655", "OMIMPS:123100", "Orphanet:1531", "UMLS:C0010278", "icd11.foundation:458033798"]}
{"category": ["biolink:Disease"], "description": "A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.", "id": "MONDO:0015471", "name": "Benign focal seizures of adolescence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adolescent benign focal crisis"], "xref": ["GARD:0018728", "MEDGEN:896830", "Orphanet:1544", "SCTID:715425000", "UMLS:C4275141", "icd11.foundation:1800285392"]}
{"category": ["biolink:Disease"], "description": "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.", "id": "MONDO:0015473", "name": "Cryptorchidism-arachnodactyly-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Van Benthem-Driessen-Hanveld syndrome"], "xref": ["GARD:0000860", "MEDGEN:1647147", "Orphanet:1548", "UMLS:C4707233"]}
{"category": ["biolink:Disease"], "description": "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.", "id": "MONDO:0015474", "name": "Cryptosporidiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cryptosporidium caused disease or disorder", "Cryptosporidium disease or disorder", "Cryptosporidium infection", "Cryptosporidium infectious disease", "intestinal cryptosporidiosis"], "xref": ["DOID:1733", "ICD10CM:A07.2", "ICD9:007.4", "MEDGEN:41362", "MESH:D003457", "MedDRA:10011502", "NCIT:C128408", "Orphanet:1549", "Orphanet:697096", "SCTID:66160001", "UMLS:C0010418", "icd11.foundation:1837013982"]}
{"category": ["biolink:Disease"], "description": "An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas.", "id": "MONDO:0015476", "name": "Cysts and fistulae of the face and oral cavity", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019973", "MEDGEN:1843131", "Orphanet:155835", "UMLS:C5680632"]}
{"category": ["biolink:Disease"], "description": "A rare otorhinolaryngological disease characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.", "id": "MONDO:0015477", "name": "Pinnae fistula or cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019974", "MEDGEN:1842452", "Orphanet:155838", "UMLS:C5680633"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015479", "name": "Submucosal cleft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019976", "MEDGEN:98472", "Orphanet:155878", "UMLS:C0432103", "icd11.foundation:1848627578"]}
{"category": ["biolink:Disease"], "description": "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.", "id": "MONDO:0015480", "name": "Coloboma of superior eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["superior palpebral coloboma"], "xref": ["GARD:0019977", "MEDGEN:350283", "Orphanet:155884", "SCTID:763132003", "UMLS:C1863872"]}
{"category": ["biolink:Disease"], "description": "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.", "id": "MONDO:0015481", "name": "Coloboma of inferior eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Inferior palpebral coloboma"], "xref": ["GARD:0019978", "MEDGEN:373417", "Orphanet:155889", "SCTID:763133008", "UMLS:C1837826"]}
{"category": ["biolink:Disease"], "description": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)", "id": "MONDO:0015483", "name": "Mandibulofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["bilateral and symmetric oto-mandibular dysplasia"], "xref": ["GARD:0019980", "ICD10CM:Q75.4", "MESH:D008342", "MedDRA:10051456", "Orphanet:155899", "icd11.foundation:470731247"]}
{"category": ["biolink:Disease"], "description": "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.", "id": "MONDO:0015484", "name": "Cysticercosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tapeworm infection: [intestinal taenia solium] or [pork]", "tapeworm infection: intestinal taenia solum", "tapeworm infection: pork"], "xref": ["DOID:10079", "EFO:0007231", "GARD:0008194", "ICD10CM:B69", "ICD10WHO:B69", "ICD9:123.1", "MEDGEN:4122", "MESH:D003551", "MedDRA:10011775", "NCIT:C34520", "NORD:1027", "Orphanet:1560", "SCTID:59051007", "UMLS:C0010678", "icd11.foundation:1324863907"]}
{"category": ["biolink:Disease"], "description": "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.", "id": "MONDO:0015486", "name": "Keratoconus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["keratoconus", "keratoconus (disease)"], "xref": ["DOID:10126", "HP:0000563", "ICD10CM:H18.6", "ICD9:371.6", "ICD9:371.60", "MEDGEN:44015", "MESH:D007640", "MedDRA:10023353", "NCIT:C26806", "OMIMPS:148300", "Orphanet:156071", "Orphanet:2335", "SCTID:65636009", "UMLS:C0022578", "icd11.foundation:945228622"]}
{"category": ["biolink:Disease"], "description": "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.", "id": "MONDO:0015487", "name": "Fatal infantile encephalocardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fatal infantile COX deficiency", "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency", "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"], "xref": ["DOID:0050713", "GARD:0016569", "MEDGEN:903874", "Orphanet:1561", "SCTID:718124006", "UMLS:C4273730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015491", "name": "Immune complex mediated vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019984", "MEDGEN:1842565", "Orphanet:156149", "UMLS:C5680655"]}
{"category": ["biolink:Disease"], "description": "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.", "id": "MONDO:0015492", "name": "Anti-neutrophil cytoplasmic antibody-associated vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AAV", "ANCA-associated vasculitis", "antineutrophil cytoplasmic antibody-associated vasculitis"], "xref": ["GARD:0013011", "MEDGEN:403453", "MESH:D056648", "Orphanet:156152", "UMLS:C2717865", "icd11.foundation:1404622826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015493", "name": "Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009990", "Orphanet:156156"]}
{"category": ["biolink:Disease"], "description": "A dystonia (disease) that is not part of a larger syndrome.", "id": "MONDO:0015494", "name": "Isolated dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Pure dystonia", "isolated dystonic disorder", "nonsyndromic dystonia (disease)", "nonsyndromic dystonic disorder"], "xref": ["GARD:0019985", "MEDGEN:1842310", "Orphanet:156159", "UMLS:C5679608"]}
{"category": ["biolink:Disease"], "description": "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)", "id": "MONDO:0015496", "name": "Macroglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003342", "MEDGEN:44236", "MESH:D008260", "MedDRA:10025391", "Orphanet:156207", "UMLS:C0024421", "icd11.foundation:670519908"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015498", "name": "Oromandibular-limb anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019996", "MEDGEN:1842880", "Orphanet:156215", "UMLS:C5680663", "icd11.foundation:1868700139"]}
{"category": ["biolink:Disease"], "description": "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.", "id": "MONDO:0015500", "name": "Facial arteriovenous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0012663", "MEDGEN:1842762", "Orphanet:156230", "UMLS:C5680665", "icd11.foundation:926860967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015514", "name": "Hereditary endocrine growth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic endocrine growth disease", "growth disorder"], "xref": ["GARD:0020012", "MEDGEN:1842942", "MESH:D006130", "Orphanet:156643", "UMLS:C5680637"]}
{"category": ["biolink:Disease"], "description": "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.", "id": "MONDO:0015515", "name": "Carnitine palmitoyltransferase ii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPT II deficiency", "CPT2", "CPTII", "Carnitine palmitoyltransferase deficiency type 2", "carnitine palmitoyltransferase II deficiency"], "xref": ["DOID:0060235", "GARD:0001121", "HGNC:2330", "ICD9:277.85", "MEDGEN:137978", "MESH:C535589", "NANDO:1200971", "NANDO:2200510", "NANDO:2201133", "NANDO:2201134", "NCIT:C114766", "Orphanet:157", "SCTID:238002005", "UMLS:C0342790", "icd11.foundation:204058632"]}
{"category": ["biolink:Disease"], "description": "A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.", "id": "MONDO:0015516", "name": "Symbrachydactyly of hands and feet", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["De Smet-Fabry-Fryns syndrome", "frints de Smet Fabry Fryns syndrome", "symbrachydactyly of the hand and foot"], "xref": ["GARD:0001680", "MEDGEN:419146", "MESH:C538062", "Orphanet:1570", "UMLS:C2931719", "icd11.foundation:159463685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015517", "name": "Common variable immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Common Variable Immune Deficiency", "primary antibody deficiency", "primary hypogammaglobulinemia", "secondary hypogammaglobulinemia"], "xref": ["DOID:12177", "GARD:0006140", "ICD10CM:D83", "ICD10WHO:D83", "ICD9:279.06", "MEDGEN:40407", "MESH:D017074", "MedDRA:10021449", "NANDO:1200344", "NANDO:2200717", "NCIT:C26725", "NORD:990", "OMIMPS:607594", "Orphanet:1572", "SCTID:23238000", "UMLS:C0009447", "icd11.foundation:1908371517"]}
{"category": ["biolink:Disease"], "description": "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.", "id": "MONDO:0015518", "name": "Infantile bilateral striatal necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["IBSN", "infantile bilateral striatal necrosis", "infantile striatonigral degeneration", "infantile striatonigral necrosis"], "xref": ["GARD:0005040", "MEDGEN:167090", "NANDO:2100242", "NANDO:2200888", "Orphanet:1576", "SCTID:718174008", "UMLS:C0795996", "icd11.foundation:1947032348"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015519", "name": "Congenital or early infantile cach syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016978", "MEDGEN:1842419", "Orphanet:157713", "UMLS:C5680650", "icd11.foundation:2136523495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015520", "name": "Late infantile cach syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016979", "MEDGEN:1826172", "Orphanet:157716", "UMLS:C5680648", "icd11.foundation:1635638032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015521", "name": "Juvenile or adult cach syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016980", "MEDGEN:1826173", "Orphanet:157719", "UMLS:C5680649", "icd11.foundation:1400114953"]}
{"category": ["biolink:Disease"], "description": "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.", "id": "MONDO:0015523", "name": "Epithelioid hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epithelioid angioendothelioma", "epithelioid angiosarcoma", "epithelioid hemangioendothelioma", "malignant epithelioid hemangioendothelioma"], "xref": ["DOID:0080190", "GARD:0020014", "ICDO:9130/3", "ICDO:9133/1", "ICDO:9133/3", "MEDGEN:569676", "MESH:D018323", "NCIT:C3800", "NORD:124536", "ONCOTREE:EHAE", "Orphanet:157791", "SCTID:403981003", "SCTID:54124005", "UMLS:C0334538"]}
{"category": ["biolink:Disease"], "description": "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.", "id": "MONDO:0015524", "name": "Hyperplastic polyposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["serrated polyposis"], "xref": ["GARD:0016982", "MEDGEN:1645454", "NCIT:C165469", "Orphanet:157798", "SCTID:763536006", "UMLS:C4296896", "icd11.foundation:1344352020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015525", "name": "Congenital pseudoarthrosis of the limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the limbs"], "xref": ["GARD:0020015", "MEDGEN:1680202", "MESH:C535762", "Orphanet:157808", "UMLS:C5190522"]}
{"category": ["biolink:Disease"], "description": "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.", "id": "MONDO:0015526", "name": "Cold-induced sweating syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CISS"], "xref": ["DOID:0060294", "GARD:0016983", "MEDGEN:321950", "OMIMPS:272430", "Orphanet:157820", "SCTID:702363009", "UMLS:C1832409", "icd11.foundation:1884908195"]}
{"category": ["biolink:Disease"], "description": "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.", "id": "MONDO:0015528", "name": "Congenital epulis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Neumann tumor", "Neumann tumour", "congenital epulis", "congenital gingival cell tumor", "congenital gingival cell tumour", "congenital granular cell tumor", "congenital granular cell tumour"], "xref": ["DOID:7280", "DOID:8303", "GARD:0020016", "MEDGEN:83962", "MESH:D005887", "NCIT:C4675", "Orphanet:157826", "SCTID:360525006", "UMLS:C0376319", "icd11.foundation:1616915738"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.", "id": "MONDO:0015529", "name": "Paroxysmal hemicrania", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001822", "GARD:0010794", "ICD9:339.03", "MEDGEN:235603", "MESH:D051302", "MedDRA:10019461", "Orphanet:157835", "SCTID:443094001", "UMLS:C1399352", "icd11.foundation:959737563"]}
{"category": ["biolink:Disease"], "description": "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.", "id": "MONDO:0015530", "name": "Trigeminal autonomic cephalalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020017", "ICD9:339.09", "MEDGEN:327950", "MESH:D051303", "NCIT:C117074", "Orphanet:157843", "SCTID:449814007", "UMLS:C1565172", "icd11.foundation:607078588"]}
{"category": ["biolink:Disease"], "description": "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).", "id": "MONDO:0015531", "name": "Non-langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["non-Langerhans-cell histiocytosis"], "xref": ["DOID:4330", "GARD:0008231", "ICD9:288.4", "MEDGEN:9265", "MESH:D015616", "Orphanet:157987", "SCTID:127069007", "UMLS:C0019624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015532", "name": "Generalized eruptive histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["generalised eruptive histiocytoma", "generalized eruptive histiocytoma"], "xref": ["GARD:0020018", "MEDGEN:578001", "Orphanet:157991", "SCTID:110980006", "UMLS:C0347404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015533", "name": "Benign cephalic histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020019", "ICD9:216.8", "MEDGEN:578000", "Orphanet:157997", "SCTID:255192005", "UMLS:C0347403", "icd11.foundation:339468256"]}
{"category": ["biolink:Disease"], "description": "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.", "id": "MONDO:0015534", "name": "Juvenile xanthogranuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JXG", "juvenile xanthogranuloma"], "xref": ["DOID:4424", "EFO:1000311", "GARD:0020020", "MEDGEN:12179", "MESH:D014972", "NANDO:2200037", "NCIT:C3451", "Orphanet:158000", "SCTID:400204000", "UMLS:C0043324", "icd11.foundation:98595592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015535", "name": "Xanthoma disseminatum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Montgomery syndrome"], "xref": ["GARD:0013186", "MEDGEN:12178", "MedDRA:10052575", "Orphanet:158003", "SCTID:399970005", "UMLS:C0043322", "icd11.foundation:1785140754"]}
{"category": ["biolink:Disease"], "description": "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.", "id": "MONDO:0015536", "name": "Papular xanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020021", "MEDGEN:1636485", "Orphanet:158008", "SCTID:765221009", "UMLS:C4707373", "icd11.foundation:1137782407"]}
{"category": ["biolink:Disease"], "description": "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.", "id": "MONDO:0015537", "name": "Necrobiotic xanthogranuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001376", "GARD:0010951", "ICD9:709.8", "MEDGEN:266158", "MESH:D058252", "Orphanet:158011", "SCTID:404164003", "UMLS:C1275339", "icd11.foundation:2138563851"]}
{"category": ["biolink:Disease"], "description": "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.", "id": "MONDO:0015538", "name": "Indeterminate dendritic cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["indeterminate Dendritic cell tumor", "indeterminate Dendritic cell tumour", "indeterminate cell histiocytosis", "indeterminate dendritic cell tumor"], "xref": ["GARD:0020022", "MEDGEN:415159", "NCIT:C81767", "ONCOTREE:IDCT", "Orphanet:158019", "SCTID:721313009", "UMLS:C2825741"]}
{"category": ["biolink:Disease"], "description": "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.", "id": "MONDO:0015539", "name": "Progressive nodular histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020023", "MEDGEN:1647278", "Orphanet:158022", "SCTID:765141005", "UMLS:C4707331", "icd11.foundation:1576286064"]}
{"category": ["biolink:Disease"], "description": "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).", "id": "MONDO:0015540", "name": "Hemophagocytic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HLH", "Hemophagocytic Lymphohistiocytosis", "hemophagocytic lymphohistiocytosis", "hemophagocytic syndrome"], "xref": ["DOID:0050120", "GARD:0020024", "ICD10CM:D76.1", "ICD9:288.8", "MEDGEN:854411", "MedDRA:10058125", "NANDO:2200032", "NCIT:C34792", "NCIT:C35439", "NORD:1938", "Orphanet:158032", "SCTID:234437005", "UMLS:C3887558"]}
{"category": ["biolink:Disease"], "description": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0015541", "name": "Hereditary hemophagocytic lymphohistiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial hemophagocytic lymphohistiocytosis", "genetic hemophagocytic lymphohistiocytosis", "genetic hemophagocytic syndrome", "primary hemophagocytic lymphohistiocytosis"], "xref": ["GARD:0006589", "ICD9:238.79", "MEDGEN:78797", "MedDRA:10070904", "OMIMPS:267700", "Orphanet:540", "SCTID:398250003", "UMLS:C0272199"]}
{"category": ["biolink:Disease"], "description": "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.", "id": "MONDO:0015542", "name": "Secondary hemophagocytic lymphohistiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired hemophagocytic lymphohistiocytosis", "acquired hemophagocytic syndrome", "reactive hemophagocytic syndrome"], "xref": ["GARD:0020026", "MEDGEN:883550", "NCIT:C121184", "Orphanet:158041", "UMLS:C4054044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015544", "name": "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020027", "MEDGEN:1683300", "Orphanet:158057", "UMLS:C5190710"]}
{"category": ["biolink:Disease"], "description": "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.", "id": "MONDO:0015545", "name": "Macrophage activation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAS", "reactive hemophagocytic lymphohistiocytosis"], "xref": ["EFO:1001806", "GARD:0012124", "MEDGEN:242753", "MESH:D055501", "MedDRA:10053867", "NCIT:C114471", "Orphanet:158061", "SCTID:430478003", "UMLS:C1096155"]}
{"category": ["biolink:Disease"], "description": "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.", "id": "MONDO:0015546", "name": "Non-distal monosomy 10q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-distal deletion 10q", "non-distal monosomy type 10q", "non-telomeric monosomy 10q"], "xref": ["GARD:0018729", "MEDGEN:1657787", "Orphanet:1581", "UMLS:C4749375"]}
{"category": ["biolink:Disease"], "description": "An instance of dementia that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0015547", "name": "Hereditary dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic dementia"], "xref": ["GARD:0020028", "MEDGEN:1842422", "Orphanet:158124", "UMLS:C5680680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015548", "name": "Huntington disease-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Huntington disease phenocopy syndrome"], "xref": ["GARD:0020029", "ICD9:333.99", "MEDGEN:777988", "MESH:C580174", "Orphanet:158266", "SCTID:702376003", "UMLS:C3711380"]}
{"category": ["biolink:Disease"], "description": "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.", "id": "MONDO:0015550", "name": "Suprabasal epidermolysis bullosa simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epidermis suprabasal layer epidermolysis bullosa simplex", "epidermolysis bullosa simplex of epidermis suprabasal layer"], "xref": ["GARD:0025064", "MEDGEN:1388459", "Orphanet:158661", "SCTID:724840004", "UMLS:C4511300", "icd11.foundation:1980336421"]}
{"category": ["biolink:Disease"], "description": "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.", "id": "MONDO:0015552", "name": "Acral dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DEB, acral", "DEB-ac"], "xref": ["GARD:0020031", "MEDGEN:1387925", "Orphanet:158673", "SCTID:733638006", "UMLS:C4518087"]}
{"category": ["biolink:Disease"], "description": "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.", "id": "MONDO:0015553", "name": "Dystrophic epidermolysis bullosa, nails only", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DEB-na", "nails-only DDEB", "nails-only DEB"], "xref": ["GARD:0020032", "MEDGEN:928216", "Orphanet:158676", "SCTID:722436002", "UMLS:C4302547"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015554", "name": "Typical urticaria pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020033", "MEDGEN:1843439", "Orphanet:158766", "UMLS:C5680683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015555", "name": "Plaque-form urticaria pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020034", "MEDGEN:1843438", "Orphanet:158769", "UMLS:C5680682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015556", "name": "Nodular urticaria pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020035", "MEDGEN:1843440", "Orphanet:158772", "UMLS:C5680684"]}
{"category": ["biolink:Disease"], "description": "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.", "id": "MONDO:0015557", "name": "Smouldering systemic mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020036", "MEDGEN:856636", "NCIT:C115460", "Orphanet:158775", "UMLS:C3897042", "icd11.foundation:481663898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015558", "name": "Isolated bone marrow mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020037", "MEDGEN:1672479", "NCIT:C198573", "Orphanet:158778", "UMLS:C4509020", "icd11.foundation:922733413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015559", "name": "Lymphoadenopathic mastocytosis with eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:158793", "icd11.foundation:809306056"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).", "id": "MONDO:0015562", "name": "Distal monosomy 17q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal 17q deletion", "distal monosomy type 17q", "monosomy 17qter", "telomeric deletion 17q"], "xref": ["GARD:0010972", "MEDGEN:895716", "Orphanet:1597", "SCTID:715365000", "UMLS:C4275171"]}
{"category": ["biolink:Disease"], "description": "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.", "id": "MONDO:0015564", "name": "Castleman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AFLH", "Castleman disease", "Castleman's disease", "Castleman's tumor", "Castleman's tumour", "GLNH", "angiofollicular ganglionic hyperplasia", "angiofollicular lymph hyperplasia", "angiofollicular lymph node hyperplasia", "angiofollicular lymphoid hyperplasia", "giant lymph node hyperplasia"], "xref": ["DOID:0111157", "GARD:0012656", "ICD10CM:D47.Z2", "MEDGEN:42211", "MESH:D005871", "MedDRA:10050251", "NCIT:C3056", "NORD:898", "Orphanet:160", "SCTID:207036003", "UMLS:C0017531", "icd11.foundation:1940989685"]}
{"category": ["biolink:Disease"], "description": "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.", "id": "MONDO:0015565", "name": "Cap polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cap inflammatory polyposis", "eroded polypoid hyperplasia", "inflammatory myoglandular polyps", "polypoid prolapsing folds"], "xref": ["GARD:0020038", "MEDGEN:929640", "Orphanet:160148", "SCTID:720604008", "UMLS:C4303971", "icd11.foundation:1387262691"]}
{"category": ["biolink:Disease"], "description": "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.", "id": "MONDO:0015566", "name": "2q24 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Del(2)(q24)", "monosomy 2q24"], "xref": ["GARD:0003746", "MEDGEN:419168", "MESH:C538316", "Orphanet:1617", "SCTID:719658006", "UMLS:C2931816"]}
{"category": ["biolink:Disease"], "description": "Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.", "id": "MONDO:0015567", "name": "Cataract-glaucoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cataract - glaucoma"], "xref": ["GARD:0001160", "MEDGEN:930800", "Orphanet:162", "SCTID:718851007", "UMLS:C4305131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015568", "name": "Isolated congenital nasal pyriform aperture stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated apertura pyriformis stenosis", "isolated nasal pyriform aperture hypoplasia"], "xref": ["GARD:0020039", "Orphanet:162516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015569", "name": "Congenital nasal pyriform aperture stenosis with holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "synonym": ["apertura pyriformis with holoprosencephaly"], "xref": ["MEDGEN:1747766", "Orphanet:162521", "UMLS:C5437790"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.", "id": "MONDO:0015570", "name": "Isolated congenital auditory ossicle malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital auditory ossicle malformation without external ear abnormality"], "xref": ["GARD:0020040", "MEDGEN:510593", "Orphanet:162526", "UMLS:C0158587"]}
{"category": ["biolink:Disease"], "description": "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.", "id": "MONDO:0015571", "name": "Deletion 5q35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del (5)(q35)", "Del (5)(qter)", "deletion type 5q35", "distal 5q deletion", "monosomy 5q35", "telomeric deletion 5q"], "xref": ["GARD:0018730", "MEDGEN:419838", "MESH:C537647", "Orphanet:1627", "SCTID:721158009", "UMLS:C2931574"]}
{"category": ["biolink:Disease"], "description": "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.", "id": "MONDO:0015573", "name": "Subacute cutaneous lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020042", "ICD10CM:L93.1", "MEDGEN:7403", "MedDRA:10057903", "NCIT:C117111", "Orphanet:163525", "SCTID:239891002", "UMLS:C0024140", "icd11.foundation:192274757"]}
{"category": ["biolink:Disease"], "description": "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.", "id": "MONDO:0015574", "name": "Chronic cutaneous lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cutaneous lupus erythematosus, chronic"], "xref": ["GARD:0020043", "MedDRA:10057929", "Orphanet:163531", "icd11.foundation:1849568465"]}
{"category": ["biolink:Disease"], "description": "Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).", "id": "MONDO:0015579", "name": "Hb bart's hydrops fetalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-thalassemia major", "HBA1", "HBA2", "HBA2 digenic quadallelic Hb Bart’s hydrops fetalis", "Haemoglobin Bart's hydrops fetalis", "Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1", "Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2", "Hemoglobin Bart's hydrops fetalis", "alpha-thalassemia hydrops fetalis", "homozygous alpha0-thalassemia"], "xref": ["GARD:0016992", "ICD9:282.49", "MEDGEN:543726", "Orphanet:163596", "SCTID:5300004", "UMLS:C0272005"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.", "id": "MONDO:0015580", "name": "Distal monosomy 7q36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal deletion 7q36", "distal monosomy type 7q36", "monosomy 7qter", "telomeric deletion 7q36"], "xref": ["GARD:0018731", "MEDGEN:1642679", "Orphanet:1636", "SCTID:763529005", "UMLS:C4706504"]}
{"category": ["biolink:Disease"], "description": "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.", "id": "MONDO:0015583", "name": "2p21 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["2p21 deletion syndrome", "2p21 microdeletion syndrome", "Del(2)(p21)", "monosomy 2p21"], "xref": ["DECIPHER:87", "GARD:0016999", "MEDGEN:930206", "Orphanet:163693", "SCTID:719652007", "UMLS:C4304537"]}
{"category": ["biolink:Disease"], "description": "A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.", "id": "MONDO:0015584", "name": "Febrile infection-related epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AERRPS", "DESC syndrome", "FIRES", "Febrile Infection-Related Epilepsy Syndrome (FIRES)", "acute encephalitis with refractory repetitive partial seizures", "acute non-herpetic encephalitis with severe refractory status epilepticus", "devastating epileptic encephalopathy in school-aged children", "fever-induced refractory epileptic encephalopathy in school-aged children", "idiopathic catastrophic epileptic encephalopathy", "severe refractory status epilepticus owing to presumed encephalitis"], "xref": ["GARD:0011005", "MEDGEN:1381987", "NANDO:1200600", "NANDO:2100249", "NANDO:2200903", "NORD:1889", "Orphanet:163703", "SCTID:725413002", "UMLS:C4049262", "icd11.foundation:1316435973"]}
{"category": ["biolink:Disease"], "description": "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.", "id": "MONDO:0015585", "name": "Cryptogenic late-onset epileptic spasms", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["late-onset infantile spasms"], "xref": ["GARD:0020050", "MEDGEN:1666207", "Orphanet:163708", "UMLS:C4755310", "icd11.foundation:457378168"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.", "id": "MONDO:0015587", "name": "Rolandic epilepsy-speech dyspraxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017002", "MEDGEN:1633042", "Orphanet:163721", "UMLS:C4707308", "icd11.foundation:288052868"]}
{"category": ["biolink:Disease"], "description": "A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.", "id": "MONDO:0015588", "name": "Limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080741", "GARD:0008742", "ICD9:323.9", "MEDGEN:137895", "MESH:D020363", "Orphanet:163892", "SCTID:230192003", "UMLS:C0338430"]}
{"category": ["biolink:Disease"], "description": "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.", "id": "MONDO:0015589", "name": "Paraneoplastic limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025065", "ICD9:323.81", "NCIT:C4350", "Orphanet:163895", "SCTID:445014002", "icd11.foundation:1147819644"]}
{"category": ["biolink:Disease"], "description": "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.", "id": "MONDO:0015590", "name": "Classic paraneoplastic limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classic paraneoplastic limbic encephalitis, with or without intracellular antigens"], "xref": ["GARD:0025066", "Orphanet:163898"]}
{"category": ["biolink:Disease"], "description": "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.", "id": "MONDO:0015592", "name": "Limbic encephalitis with lgi1 antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies"], "xref": ["GARD:0013406", "MEDGEN:1645969", "Orphanet:163908", "SCTID:763794005", "UMLS:C4706583"]}
{"category": ["biolink:Disease"], "description": "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.", "id": "MONDO:0015595", "name": "Posttransplant acute limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PALE", "pale"], "xref": ["GARD:0020051", "MEDGEN:1657779", "Orphanet:163921", "UMLS:C4750744"]}
{"category": ["biolink:Disease"], "description": "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.", "id": "MONDO:0015596", "name": "Non-herpetic acute limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025067", "MEDGEN:1646654", "Orphanet:163924", "SCTID:764998005", "UMLS:C4707262"]}
{"category": ["biolink:Disease"], "description": "A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.", "id": "MONDO:0015597", "name": "Palmoplantar pustulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LPP", "PPP", "Palmoplantar Pustulosis", "localised pustular psoriasis", "localized pustular psoriasis", "palmoplantar pustulosis", "pustulosis of palm and sole", "pustulosis palmaris et plantaris"], "xref": ["DOID:4398", "GARD:0012820", "ICD10CM:L40.3", "ICD9:696.1", "MEDGEN:45290", "MedDRA:10050185", "NCIT:C34888", "NORD:2008", "Orphanet:163927", "SCTID:27520001", "SCTID:81271001", "UMLS:C0030246", "icd11.foundation:877172115"]}
{"category": ["biolink:Disease"], "description": "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.", "id": "MONDO:0015599", "name": "Atopic keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020053", "ICD9:370.49", "MEDGEN:698110", "MedDRA:10069664", "Orphanet:163934", "SCTID:403434009", "UMLS:C1274788", "icd11.foundation:1941631830"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).", "id": "MONDO:0015600", "name": "X-linked intellectual disability, cilliers type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked intellectual disability-microcephaly-testicular failure syndrome"], "xref": ["GARD:0020054", "MEDGEN:930693", "Orphanet:163971", "SCTID:719013004", "UMLS:C4305024"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.", "id": "MONDO:0015601", "name": "X-linked intellectual disability, van esch type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VEODS", "Van Esch-O'Driscoll syndrome", "Van Esch-O'Driscoll syndrome, X-linked recessive", "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type"], "xref": ["DOID:0111840", "GARD:0017008", "MEDGEN:930741", "OMIM:301030", "Orphanet:163976", "SCTID:718914002", "UMLS:C4305072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015604", "name": "Middle ear anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020056", "MEDGEN:540027", "MedDRA:10060957", "Orphanet:164004", "UMLS:C0266599"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.", "id": "MONDO:0015605", "name": "Distal monosomy 9p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal deletion 9p", "distal monosomy type 9p", "monosomy 9pter", "telomeric deletion 9p"], "xref": ["GARD:0018732", "MEDGEN:539240", "MESH:C538025", "Orphanet:1642", "SCTID:763530000", "UMLS:C0265425"]}
{"category": ["biolink:Disease"], "description": "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.", "id": "MONDO:0015606", "name": "Xp22.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(X)(p23)"], "xref": ["GARD:0018733", "MEDGEN:1388343", "Orphanet:1643", "SCTID:726733007", "UMLS:C4512072"]}
{"category": ["biolink:Disease"], "description": "A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.", "id": "MONDO:0015607", "name": "Partial chromosome y deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Male sterility due to chromosome Y deletion"], "xref": ["GARD:0016574", "HGNC:11311", "MEDGEN:267211", "MESH:C536297", "Orphanet:1646", "SCTID:717158001", "UMLS:C1507149"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.", "id": "MONDO:0015608", "name": "Acute myeloid leukemia and myelodysplastic syndromes related to radiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML and myelodysplastic syndromes related to radiation"], "xref": ["GARD:0020057", "MEDGEN:1637827", "Orphanet:164726", "UMLS:C4707660"]}
{"category": ["biolink:Disease"], "description": "A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.", "id": "MONDO:0015609", "name": "Advanced sleep phase syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FASPS", "familial advanced sleep-phase syndrome"], "xref": ["DOID:0050628", "GARD:0009242", "MEDGEN:348956", "OMIMPS:604348", "Orphanet:164736", "SCTID:715829003", "UMLS:C1858496"]}
{"category": ["biolink:Disease"], "description": "An instance of aplastic anemia that is acquired during the lifetime of the individual.", "id": "MONDO:0015610", "name": "Acquired aplastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["acquired aplastic anemia"], "xref": ["GARD:0020058", "MEDGEN:543648", "NANDO:2201277", "Orphanet:164823", "SCTID:55907008", "UMLS:C0271907"]}
{"category": ["biolink:Disease"], "description": "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.", "id": "MONDO:0015611", "name": "Neutral lipid storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["lipidosis with triglyceride storage disease"], "xref": ["DOID:0050729", "GARD:0003262", "MEDGEN:1853293", "NANDO:1200622", "NANDO:2200997", "Orphanet:165", "UMLS:C5848057", "icd11.foundation:621440298"]}
{"category": ["biolink:Disease"], "description": "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.", "id": "MONDO:0015612", "name": "Dent disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dent syndrome", "X-linked recessive hypercalciuric hypophosphatemic rickets", "X-linked recessive hypophosphatemic rickets", "X-linked recessive nephrolithiasis", "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis", "renal Fanconi syndrome with nephrocalcinosis and renal stones"], "xref": ["DOID:0050699", "GARD:0013105", "MEDGEN:168056", "MESH:D057973", "MedDRA:10069199", "NCIT:C123260", "NORD:1040", "OMIMPS:300009", "Orphanet:1652", "SCTID:444645005", "UMLS:C0878681", "icd11.foundation:1762998355"]}
{"category": ["biolink:Disease"], "description": "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.", "id": "MONDO:0015613", "name": "Dentin dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DD"], "xref": ["DOID:701", "GARD:0016575", "ICD9:520.5", "MEDGEN:8310", "MESH:D003805", "Orphanet:1653", "SCTID:109492001", "UMLS:C0011430", "icd11.foundation:1262020657"]}
{"category": ["biolink:Disease"], "description": "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.", "id": "MONDO:0015614", "name": "Dermatitis herpetiformis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duhring's disease", "Durhing-Brocq disease", "dermatitis herpetiformis"], "xref": ["DOID:8505", "EFO:1000684", "GARD:0010075", "ICD10CM:L13.0", "ICD9:694.0", "MEDGEN:8327", "MESH:D003874", "MedDRA:10012468", "NCIT:C26742", "Orphanet:1656", "SCTID:111196000", "UMLS:C0011608", "Wikipedia:Dermatitis_herpetiformis", "icd11.foundation:286313127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015622", "name": "Wound myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["traumatic myiasis"], "xref": ["GARD:0020065", "ICD10CM:B87.1", "ICD9:998.89", "MEDGEN:576044", "Orphanet:165955", "SCTID:240880004", "UMLS:C0344061", "icd11.foundation:894204357"]}
{"category": ["biolink:Disease"], "description": "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.", "id": "MONDO:0015623", "name": "Cavitary myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020066", "MEDGEN:1631496", "Orphanet:165958", "SCTID:764811001", "UMLS:C4707154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015624", "name": "Diazoxide-sensitive diffuse hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"], "xref": ["GARD:0020067", "MEDGEN:1842739", "Orphanet:165985", "UMLS:C5679570"]}
{"category": ["biolink:Disease"], "description": "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.", "id": "MONDO:0015625", "name": "Diazoxide-resistant diffuse hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"], "xref": ["GARD:0020068", "MEDGEN:1843355", "Orphanet:165988", "UMLS:C5679569"]}
{"category": ["biolink:Disease"], "description": "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.", "id": "MONDO:0015626", "name": "Charcot-marie-tooth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMT", "CMT/HMSN", "Charcot Marie Tooth muscular atrophy", "Charcot-Marie-Tooth disease", "Charcot-Marie-Tooth hereditary neuropathy", "peroneal muscular atrophy"], "xref": ["DOID:10595", "GARD:0006034", "ICD9:356.1", "MEDGEN:2980", "MESH:D002607", "MedDRA:10034699", "NANDO:1200016", "NANDO:2200855", "NCIT:C75467", "NORD:919", "OMIMPS:118220", "Orphanet:166", "UMLS:C0007959"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.", "id": "MONDO:0015627", "name": "Multiple epiphyseal dysplasia due to collagen 9 anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070305", "GARD:0015024", "MEDGEN:1647610", "NANDO:2201016", "Orphanet:166002", "SCTID:766717008", "UMLS:C4707798", "icd11.foundation:741183905"]}
{"category": ["biolink:Disease"], "description": "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.", "id": "MONDO:0015628", "name": "Von willebrand disease type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["von Willebrand disease, type 2A"], "xref": ["GARD:0017021", "MEDGEN:220920", "NCIT:C131686", "Orphanet:166084", "SCTID:359714009", "UMLS:C1282968", "icd11.foundation:1009291548"]}
{"category": ["biolink:Disease"], "description": "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.", "id": "MONDO:0015629", "name": "Von willebrand disease type 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["von Willebrand disease type 2B", "von Willebrand disease, type 2B"], "xref": ["GARD:0017022", "MEDGEN:224831", "NCIT:C131687", "Orphanet:166087", "SCTID:359717002", "SCTID:359721009", "UMLS:C1282971", "icd11.foundation:1383884415"]}
{"category": ["biolink:Disease"], "description": "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.", "id": "MONDO:0015630", "name": "Von willebrand disease type 2m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["von Willebrand disease, type 2M"], "xref": ["GARD:0017023", "MEDGEN:266186", "NCIT:C131688", "Orphanet:166090", "SCTID:359725000", "SCTID:359729006", "UMLS:C1282974", "icd11.foundation:1358085002"]}
{"category": ["biolink:Disease"], "description": "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).", "id": "MONDO:0015631", "name": "Von willebrand disease type 2n", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["von Willebrand disease Normandy variant", "von Willebrand disease, type 2N"], "xref": ["GARD:0017024", "MEDGEN:266187", "NCIT:C131689", "Orphanet:166093", "SCTID:359732009", "UMLS:C1282975", "icd11.foundation:1091176565"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015632", "name": "Fastkd2-related infantile mitochondrial encephalomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017026", "MEDGEN:1665220", "Orphanet:166105", "UMLS:C4755278", "icd11.foundation:356231901"]}
{"category": ["biolink:Disease"], "description": "A osteopoikilosis (disease) that is not part of a larger syndrome.", "id": "MONDO:0015634", "name": "Isolated osteopoikilosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated osteopoikilosis (disease)", "nonsyndromic osteopoikilosis (disease)"], "xref": ["GARD:0017027", "MEDGEN:318940", "Orphanet:166119", "UMLS:C1833699"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.", "id": "MONDO:0015635", "name": "Porokeratotic eccrine ostial and dermal duct nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Porokeratotic eccrine duct and hair follicle Nevus", "Porokeratotic eccrine nevus", "comedo nevus of the palm", "linear eccrine Nevus with comedones"], "xref": ["GARD:0020070", "MEDGEN:96880", "NCIT:C4740", "Orphanet:166286", "SCTID:239118007", "UMLS:C0473579"]}
{"category": ["biolink:Disease"], "description": "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.", "id": "MONDO:0015636", "name": "Dirofilariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dirofilaria caused disease or disorder", "Dirofilaria disease or disorder", "infection by Dirofilaria"], "xref": ["DOID:1082", "EFO:0007239", "GARD:0011908", "ICD9:125.6", "MEDGEN:4344", "MESH:D004184", "Orphanet:166291", "SCTID:73328005", "UMLS:C0012602", "icd11.foundation:1349492056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015637", "name": "Benign non-familial infantile seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020071", "Orphanet:166295"]}
{"category": ["biolink:Disease"], "description": "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.", "id": "MONDO:0015638", "name": "Benign partial epilepsy of infancy with complex partial seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020072", "MEDGEN:1654146", "Orphanet:166299", "UMLS:C4749347", "icd11.foundation:147618459"]}
{"category": ["biolink:Disease"], "description": "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.", "id": "MONDO:0015639", "name": "Benign partial epilepsy with secondarily generalized seizures in infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020073", "MEDGEN:1656339", "Orphanet:166302", "UMLS:C4749728", "icd11.foundation:413225821"]}
{"category": ["biolink:Disease"], "description": "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.", "id": "MONDO:0015640", "name": "Benign infantile seizures associated with mild gastroenteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020074", "MEDGEN:1647397", "Orphanet:166305", "SCTID:765756007", "UMLS:C4707564", "icd11.foundation:839512399"]}
{"category": ["biolink:Disease"], "description": "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.", "id": "MONDO:0015641", "name": "Benign infantile focal epilepsy with midline spikes and wave during sleep", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BIMSE"], "xref": ["GARD:0020075", "MEDGEN:1663004", "Orphanet:166308", "UMLS:C4749346"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015642", "name": "Benign partial infantile seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020076", "MEDGEN:1842641", "Orphanet:166311", "UMLS:C5680426"]}
{"category": ["biolink:Disease"], "description": "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.", "id": "MONDO:0015643", "name": "Photosensitive epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["photoparoxysmal response"], "xref": ["DOID:0060281", "GARD:0005648", "ICD9:345.80", "MEDGEN:98285", "OMIMPS:132100", "Orphanet:166409", "SCTID:95208000", "UMLS:C0393720", "icd11.foundation:946957931"]}
{"category": ["biolink:Disease"], "description": "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).", "id": "MONDO:0015644", "name": "Audiogenic seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020077", "MEDGEN:155927", "Orphanet:166415", "SCTID:765216006", "UMLS:C0751791"]}
{"category": ["biolink:Disease"], "description": "A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.", "id": "MONDO:0015645", "name": "Eating seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["eating epilepsy"], "xref": ["GARD:0020078", "MEDGEN:581543", "Orphanet:166418", "SCTID:230450001", "UMLS:C0393725"]}
{"category": ["biolink:Disease"], "description": "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.", "id": "MONDO:0015646", "name": "Orgasm-induced seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020079", "MEDGEN:1633277", "Orphanet:166421", "UMLS:C4706598"]}
{"category": ["biolink:Disease"], "description": "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.", "id": "MONDO:0015647", "name": "Thinking seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020080", "MEDGEN:1647683", "Orphanet:166424", "SCTID:763622006", "UMLS:C4706523"]}
{"category": ["biolink:Disease"], "description": "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.", "id": "MONDO:0015648", "name": "Startle epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020081", "MEDGEN:1633187", "Orphanet:166427", "SCTID:763632004", "UMLS:C4706527", "icd11.foundation:1012101161"]}
{"category": ["biolink:Disease"], "description": "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.", "id": "MONDO:0015649", "name": "Micturation-induced seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020082", "MEDGEN:1646690", "Orphanet:166430", "UMLS:C4706587"]}
{"category": ["biolink:Disease"], "description": "A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology.", "id": "MONDO:0015650", "name": "Epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["epileptic syndrome", "syndromic epilepsy"], "xref": ["GARD:0020083", "MEDGEN:1371141", "Orphanet:166463", "UMLS:C4505072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015653", "name": "Monogenic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["monogenic disease with epilepsy"], "xref": ["GARD:0020086", "MEDGEN:1842675", "Orphanet:166472", "UMLS:C5680430"]}
{"category": ["biolink:Disease"], "description": "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.", "id": "MONDO:0015660", "name": "Sporadic fetal brain disruption sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018734", "MEDGEN:1636968", "Orphanet:1665", "SCTID:763717004", "UMLS:C4706553"]}
{"category": ["biolink:Disease"], "description": "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.", "id": "MONDO:0015661", "name": "Dextrocardia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dextrocardia", "dextrocardia (disease)"], "xref": ["DOID:9565", "GARD:0001827", "HP:0001651", "ICD10CM:Q24.0", "ICD9:746.87", "MEDGEN:4255", "MESH:D003914", "MedDRA:10012592", "NCIT:C84669", "Orphanet:1666", "SCTID:27637000", "UMLS:C0011813", "icd11.foundation:1472687600"]}
{"category": ["biolink:Disease"], "description": "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.", "id": "MONDO:0015663", "name": "Diencephalic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Russell diencephalic cachexia", "Russell syndrome", "diencephalic cachexia", "diencephalic syndrome of childhood", "diencephalic syndrome of emaciation", "diencephalic syndrome of infancy"], "xref": ["GARD:0006276", "ICD9:253.8", "MEDGEN:90981", "NCIT:C116955", "NORD:1052", "Orphanet:1672", "SCTID:237733001", "UMLS:C0342436", "icd11.foundation:879659089"]}
{"category": ["biolink:Disease"], "description": "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.", "id": "MONDO:0015664", "name": "Idiopathic pulmonary artery dilatation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0006757", "MEDGEN:1842555", "Orphanet:1676", "UMLS:C1384816"]}
{"category": ["biolink:Disease"], "description": "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.", "id": "MONDO:0015665", "name": "Scleromyxedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Arndt-Gottron disease", "Scleromyxedema", "generalised lichenoid papular eruption", "generalised papular and sclerodermoid lichen myxedematosus", "generalized lichenoid papular eruption", "generalized papular and sclerodermoid lichen myxedematosus", "scleromyxoedema"], "xref": ["GARD:0007615", "ICD9:701.8", "MEDGEN:120476", "MESH:D053718", "MedDRA:10055046", "NCIT:C85061", "Orphanet:167635", "SCTID:402468007", "UMLS:C0263390"]}
{"category": ["biolink:Disease"], "description": "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.", "id": "MONDO:0015666", "name": "Familial idiopathic dilatation of the right atrium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial idiopathic dilatation of the right atrium (disease)"], "xref": ["GARD:0018735", "MEDGEN:901482", "Orphanet:1677", "SCTID:716773002", "UMLS:C4274283", "icd11.foundation:2067836926"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.", "id": "MONDO:0015667", "name": "Acute myeloid leukemia by fab classification", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AML, NOS", "acute myeloid leukaemia NOS", "acute myeloid leukaemia not otherwise categorised", "acute myeloid leukaemia not otherwise specified", "acute myeloid leukemia NOS", "acute myeloid leukemia not otherwise categorized", "acute myeloid leukemia not otherwise specified", "acute myeloid leukemia, NOS", "unclassified AML", "unclassified acute myeloid leukaemia", "unclassified acute myeloid leukemia"], "xref": ["GARD:0012760", "MEDGEN:1842303", "NCIT:C27753", "Orphanet:167714", "UMLS:C5679583"]}
{"category": ["biolink:Disease"], "description": "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.", "id": "MONDO:0015672", "name": "Diprosopus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Diprosopia", "craniofacial duplication"], "xref": ["GARD:0001876", "MEDGEN:540123", "Orphanet:1681", "SCTID:62192003", "UMLS:C0266731"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.", "id": "MONDO:0015674", "name": "Late infantile neuronal ceroid lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jansky-Bielschowsky disease", "LINCL", "late infantile NCL", "late-infantile neuronal ceroid lipofuscinosis"], "xref": ["GARD:0017032", "MEDGEN:9589", "NANDO:1200153", "NANDO:2201242", "Orphanet:168491", "SCTID:14637005", "UMLS:C0022340", "icd11.foundation:1923920542"]}
{"category": ["biolink:Disease"], "description": "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.", "id": "MONDO:0015675", "name": "Distomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["distomiasis", "fluke infection"], "xref": ["GARD:0001891", "ICD9:121.8", "ICD9:121.9", "MEDGEN:21251", "Orphanet:1685", "SCTID:26089000", "UMLS:C0040820"]}
{"category": ["biolink:Disease"], "description": "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.", "id": "MONDO:0015677", "name": "Cardiac diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cardiac diverticulum", "cardiac diverticulum (disease)"], "xref": ["GARD:0001094", "HP:0100571", "MEDGEN:903640", "NANDO:2200234", "Orphanet:1686", "UMLS:C0546315"]}
{"category": ["biolink:Disease"], "description": "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.", "id": "MONDO:0015678", "name": "Dysplasia of head of femur, meyer type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020098", "MEDGEN:909364", "Orphanet:168621", "SCTID:715861004", "UMLS:C4274970", "icd11.foundation:381445908"]}
{"category": ["biolink:Disease"], "description": "A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.", "id": "MONDO:0015681", "name": "Childhood disintegrative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood disintegrative disease", "dementia infantilis", "disintegrative psychosis", "heller syndrome"], "xref": ["DOID:13487", "GARD:0006040", "ICD9:299.1", "MEDGEN:472967", "MedDRA:10008522", "NCIT:C97164", "Orphanet:168782", "SCTID:61831009", "SCTID:71961003", "UMLS:C0236791", "icd11.foundation:1460615954"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.", "id": "MONDO:0015686", "name": "Primary peritoneal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EOPPC", "Extra-ovarian primary peritoneal carcinoma", "PPC", "primary peritoneal cancer", "primary peritoneal carcinoma", "primary peritoneal carcinoma (disease)", "primary peritoneal serous carcinoma", "serous surface papillary carcinoma"], "xref": ["GARD:0020103", "HP:0030406", "MEDGEN:269516", "NCIT:C40022", "Orphanet:168829", "UMLS:C1514428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015687", "name": "Chronic eosinophilic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CEL", "CEL/hypereosinophilic syndrome", "chronic eosinophilic leukemia", "chronic eosinophilic leukemia/hypereosinophilic syndrome", "eosinophilic leukaemia", "eosinophilic leukemia"], "xref": ["DOID:0080367", "GARD:0020104", "ICDO:9964/3", "MEDGEN:91106", "MESH:C580364", "MedDRA:10065854", "NCIT:C4563", "ONCOTREE:CELNOS", "Orphanet:168940", "SCTID:188733003", "UMLS:C0346421"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015688", "name": "Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1", "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1", "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2", "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2", "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement", "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"], "xref": ["DOID:0080164", "GARD:0020105", "MEDGEN:417664", "NCIT:C84270", "Orphanet:168943", "UMLS:C2827356"]}
{"category": ["biolink:Disease"], "description": "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.", "id": "MONDO:0015689", "name": "Myeloid neoplasm associated with pdgfra rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myeloid and lymphoid neoplasms associated with PDGFRA rearrangement", "myeloid and lymphoid neoplasms with PDGFRA rearrangement", "myeloid/lymphoid neoplasms with PDGFRA rearrangement"], "xref": ["DOID:0080165", "GARD:0020106", "ICDO:9965/3", "MEDGEN:1620600", "NCIT:C84275", "ONCOTREE:MLNPDGFRA", "Orphanet:168947", "SCTID:738527001", "UMLS:C4545381", "icd11.foundation:833355630"]}
{"category": ["biolink:Disease"], "description": "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.", "id": "MONDO:0015690", "name": "Myeloid neoplasm associated with pdgfrb rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myeloid and lymphoid neoplasms with PDGFRB rearrangement", "myeloid neoplasms associated with PDGFRB rearrangement", "myeloid neoplasms with PDGFRB rearrangement", "myeloid/lymphoid neoplasms with PDGFRB rearrangement"], "xref": ["DOID:0080166", "GARD:0020107", "ICDO:9966/3", "MEDGEN:758646", "NCIT:C84276", "ONCOTREE:MLNPDGFRB", "Orphanet:168950", "SCTID:724642009", "UMLS:C3472621", "icd11.foundation:625932159"]}
{"category": ["biolink:Disease"], "description": "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.", "id": "MONDO:0015691", "name": "Hypereosinophilic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HES", "hypereosinophilic disease", "hypereosinophilic disorder", "hypereosinophilic syndrome"], "xref": ["DOID:999", "EFO:1001467", "GARD:0002804", "ICD10CM:D72.11", "ICD9:288.3", "ICDO:9964/3", "MEDGEN:280990", "MESH:D017681", "MedDRA:10048643", "NANDO:2200805", "NANDO:2200806", "NCIT:C27038", "Orphanet:168956", "SCTID:419455006", "UMLS:C1540912", "icd11.foundation:110429919"]}
{"category": ["biolink:Disease"], "description": "Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.", "id": "MONDO:0015692", "name": "Refractory anemia with excess blasts in transformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RAEB-T", "RAEB-t"], "xref": ["GARD:0020108", "ICD9:238.73", "ICDO:9984/3", "MEDGEN:124692", "MedDRA:10038271", "NCIT:C27080", "Orphanet:168960", "SCTID:110000005", "UMLS:C0280028"]}
{"category": ["biolink:Disease"], "description": "A melanoma (disease) that involves the mucosa.", "id": "MONDO:0015694", "name": "Malignant melanoma of the mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["melanoma (disease) of mucosa", "mucosa melanoma", "mucosa melanoma (disease)"], "xref": ["GARD:0020110", "MEDGEN:1676191", "Orphanet:168999", "UMLS:C5191057"]}
{"category": ["biolink:Disease"], "description": "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.", "id": "MONDO:0015695", "name": "Combined immunodeficiency due to crac channel dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immune dysfunction due to T-cell inactivation due to calcium entry defect"], "xref": ["GARD:0017048", "MEDGEN:929240", "Orphanet:169090", "SCTID:717811007", "UMLS:C4303571", "icd11.foundation:1641826886"]}
{"category": ["biolink:Disease"], "description": "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.", "id": "MONDO:0015696", "name": "Good syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["thymoma-immunodeficiency", "thymoma-immunodeficiency syndrome"], "xref": ["DOID:0060028", "GARD:0008622", "MEDGEN:67437", "Orphanet:169105", "SCTID:9893005", "UMLS:C0221027", "icd11.foundation:812332735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015697", "name": "Immunoglobulin heavy chain deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020111", "ICD9:279.03", "MEDGEN:98309", "Orphanet:169110", "SCTID:234539005", "UMLS:C0398692", "icd11.foundation:960006636"]}
{"category": ["biolink:Disease"], "description": "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.", "id": "MONDO:0015698", "name": "Transient hypogammaglobulinemia of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["THI", "transient hypogammaglobulinemia of infancy"], "xref": ["DOID:624", "GARD:0020112", "ICD10CM:D80.7", "ICD9:279.09", "MEDGEN:124421", "MedDRA:10044388", "NANDO:1200349", "NANDO:2200722", "NCIT:C27071", "Orphanet:169139", "SCTID:88714009", "UMLS:C0272238", "icd11.foundation:1686370790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015699", "name": "Immunodeficiency due to a classical component pathway complement deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency due to C1, C4, or C2 component complement deficiency", "immunodeficiency due to a C1, C4, or C2 component complement deficiency", "immunodeficiency due to an early component of complement deficiency"], "xref": ["GARD:0015025", "MEDGEN:585054", "Orphanet:169147", "UMLS:C0398750", "icd11.foundation:327609494"]}
{"category": ["biolink:Disease"], "description": "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.", "id": "MONDO:0015700", "name": "Immunodeficiency due to a late component of complement deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deficiency of complement of terminal pathway", "immunodeficiency due to C5 to C9 component complement deficiency", "immunodeficiency due to a C5 to C9 component complement deficiency", "terminal complement pathway deficiency"], "xref": ["GARD:0017050", "MEDGEN:585067", "Orphanet:169150", "UMLS:C0398765", "icd11.foundation:531050218"]}
{"category": ["biolink:Disease"], "description": "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.", "id": "MONDO:0015701", "name": "T-b+ severe combined immunodeficiency due to il-7ralpha deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IL-7R", "IL-7Ralpha deficiency", "T-B+ SCID due to IL-7Ralpha deficiency"], "xref": ["DOID:0060015", "GARD:0017051", "MEDGEN:1842915", "Orphanet:169154", "UMLS:C5679577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015702", "name": "T-b+ severe combined immunodeficiency due to cd45 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD45 deficiency", "T-B+ SCID due to CD45 deficiency"], "xref": ["DOID:0060014", "GARD:0017052", "MEDGEN:1842877", "Orphanet:169157", "UMLS:C5679579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015703", "name": "T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"], "xref": ["GARD:0017053", "MEDGEN:1842819", "Orphanet:169160", "UMLS:C5679578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015704", "name": "Familial scaphocephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020113", "MEDGEN:797875", "MedDRA:10072229", "Orphanet:169163", "UMLS:C3267076"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.", "id": "MONDO:0015705", "name": "Autosomal recessive centronuclear myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CNM", "centronuclear myopathy, autosomal recessive"], "xref": ["DOID:0111216", "GARD:0012718", "MEDGEN:771131", "Orphanet:169186", "SCTID:240081004", "UMLS:C3645536", "icd11.foundation:1844602815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015706", "name": "Mosaic trisomy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 1", "Mosaic trisomy type 1", "trisomy 1 mosaicism"], "xref": ["GARD:0018736", "MEDGEN:1709039", "Orphanet:1692", "UMLS:C5394675"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015708", "name": "Immuno-osseous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020115", "MEDGEN:609410", "Orphanet:169349", "SCTID:254067002", "UMLS:C0432218", "icd11.foundation:1948303413"]}
{"category": ["biolink:Disease"], "description": "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.", "id": "MONDO:0015712", "name": "Non-distal trisomy 10q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-distal duplication 10q", "non-distal trisomy type 10q", "non-telomeric trisomy 10q"], "xref": ["GARD:0018737", "MEDGEN:1664181", "Orphanet:1695", "UMLS:C4749376"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015713", "name": "Idiopathic central precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "xref": ["ICD9:259.1", "MEDGEN:575094", "NCIT:C120372", "Orphanet:169615", "SCTID:237817008", "UMLS:C0342544"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015714", "name": "Secondary central precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "xref": ["GARD:0027865", "Orphanet:169618"]}
{"category": ["biolink:Disease"], "description": "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015715", "name": "Severe hemophilia b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["severe factor IX deficiency", "severe haemophilia type B", "severe hemophilia type B"], "xref": ["GARD:0017056", "MEDGEN:1826004", "Orphanet:169793", "UMLS:C5679576"]}
{"category": ["biolink:Disease"], "description": "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015716", "name": "Moderately severe hemophilia b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["moderately severe factor IX deficiency", "moderately severe haemophilia type B", "moderately severe hemophilia type B"], "xref": ["GARD:0017057", "MEDGEN:1842225", "Orphanet:169796", "UMLS:C5679575"]}
{"category": ["biolink:Disease"], "description": "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015717", "name": "Mild hemophilia b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mild factor IX deficiency", "mild haemophilia type B", "mild hemophilia type B"], "xref": ["GARD:0017058", "MEDGEN:1826003", "Orphanet:169799", "UMLS:C5679574"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.", "id": "MONDO:0015718", "name": "Mosaic trisomy 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 12", "Mosaic trisomy type 12", "trisomy 12 mosaicism"], "xref": ["GARD:0005304", "MEDGEN:1631133", "Orphanet:1698", "SCTID:764463001", "UMLS:C4706889"]}
{"category": ["biolink:Disease"], "description": "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015719", "name": "Severe hemophilia a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["severe factor VIII deficiency", "severe haemophilia type A", "severe hemophilia type A"], "xref": ["GARD:0017059", "MEDGEN:543973", "Orphanet:169802", "SCTID:16872008", "UMLS:C0272322"]}
{"category": ["biolink:Disease"], "description": "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015720", "name": "Moderately severe hemophilia a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["moderately severe factor VIII deficiency", "moderately severe haemophilia type A", "moderately severe hemophilia type A"], "xref": ["GARD:0017060", "MEDGEN:543974", "Orphanet:169805", "UMLS:C0272323"]}
{"category": ["biolink:Disease"], "description": "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.", "id": "MONDO:0015721", "name": "Mild hemophilia a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mild factor VIII deficiency", "mild haemophilia type A", "mild hemophilia type A"], "xref": ["GARD:0017061", "MEDGEN:543975", "Orphanet:169808", "SCTID:26029002", "UMLS:C0272324"]}
{"category": ["biolink:Disease"], "description": "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.", "id": "MONDO:0015722", "name": "Congenital vitamin k-dependent coagulation factors deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital vitamin K-dependent coagulation factors combined deficiency", "vitamin K-dependent clotting factors, combined deficiency of"], "xref": ["DOID:0112172", "GARD:0020121", "MEDGEN:1378036", "OMIMPS:277450", "Orphanet:169826", "Orphanet:98434", "UMLS:C4510617", "icd11.foundation:54644599"]}
{"category": ["biolink:Disease"], "description": "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.", "id": "MONDO:0015723", "name": "Trisomy 12p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 12p", "trisomy type 12p"], "xref": ["GARD:0005305", "MEDGEN:162880", "MESH:C538299", "Orphanet:1699", "UMLS:C0795845"]}
{"category": ["biolink:Disease"], "description": "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.", "id": "MONDO:0015724", "name": "Non-distal trisomy 13q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-distal duplication 13q", "non-distal trisomy type 13q", "non-telomeric trisomy 13q"], "xref": ["GARD:0018738", "MEDGEN:1637117", "Orphanet:1702", "SCTID:764996009", "UMLS:C4707260"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.", "id": "MONDO:0015725", "name": "Mosaic trisomy 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy type 14"], "xref": ["GARD:0001327", "MEDGEN:418947", "MESH:C535489", "NCIT:C116319", "Orphanet:1703", "SCTID:764466009", "UMLS:C2930917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015726", "name": "Distal trisomy 14q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal duplication 14q", "distal trisomy type 14q", "telomeric duplication 14q", "trisomy 14qter"], "xref": ["GARD:0018739", "MEDGEN:444122", "MESH:C538034", "Orphanet:1705", "UMLS:C2931702"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.", "id": "MONDO:0015727", "name": "Mosaic trisomy 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 15", "Mosaic trisomy type 15", "trisomy 15 mosaicism"], "xref": ["GARD:0005313", "MEDGEN:419475", "MESH:C538037", "Orphanet:1706", "SCTID:764619001", "UMLS:C2931707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015728", "name": "Distal trisomy 15q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 15, Distal Trisomy 15q", "distal duplication 15q", "distal trisomy type 15q", "telomeric duplication 15q", "trisomy 15qter"], "xref": ["GARD:0018740", "MEDGEN:419879", "MESH:C538036", "NORD:942", "Orphanet:1707", "UMLS:C2931705"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.", "id": "MONDO:0015729", "name": "Mosaic trisomy 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 16", "Mosaic trisomy type 16", "trisomy 16 mosaicism"], "xref": ["GARD:0018741", "MEDGEN:1633950", "MESH:C538041", "Orphanet:1708", "SCTID:764621006", "UMLS:C4707009"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.", "id": "MONDO:0015730", "name": "Mosaic trisomy 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 17", "Mosaic trisomy type 17", "trisomy 17 mosaicism"], "xref": ["GARD:0005317", "MEDGEN:202107", "MESH:C538044", "NCIT:C37865", "Orphanet:1711", "SCTID:764622004", "UMLS:C1096168"]}
{"category": ["biolink:Disease"], "description": "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.", "id": "MONDO:0015731", "name": "High anorectal malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:751.5", "MEDGEN:576820", "Orphanet:171201", "SCTID:253771003", "UMLS:C0345210", "icd11.foundation:1409973552"]}
{"category": ["biolink:Disease"], "description": "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.", "id": "MONDO:0015732", "name": "Intermediate anorectal malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1371993", "Orphanet:171208", "SCTID:734024009", "UMLS:C4518340", "icd11.foundation:1224425167"]}
{"category": ["biolink:Disease"], "description": "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.", "id": "MONDO:0015733", "name": "Low anorectal malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:751.5", "MEDGEN:473082", "NCIT:C98975", "Orphanet:171215", "SCTID:253772005", "UMLS:C0345218", "icd11.foundation:1155202227"]}
{"category": ["biolink:Disease"], "description": "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.", "id": "MONDO:0015734", "name": "Rectal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020122", "MEDGEN:1393874", "Orphanet:171220", "SCTID:725910009", "UMLS:C4511483", "icd11.foundation:1354283575"]}
{"category": ["biolink:Disease"], "description": "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.", "id": "MONDO:0015735", "name": "Severe congenital nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012821", "MEDGEN:1805110", "Orphanet:171430", "UMLS:C5680451", "icd11.foundation:1025202057"]}
{"category": ["biolink:Disease"], "description": "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.", "id": "MONDO:0015736", "name": "Intermediate nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012823", "MEDGEN:1803914", "Orphanet:171433", "UMLS:C5680452", "icd11.foundation:1667070006"]}
{"category": ["biolink:Disease"], "description": "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.", "id": "MONDO:0015737", "name": "Typical nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012822", "MEDGEN:1806265", "Orphanet:171436", "UMLS:C5680453", "icd11.foundation:1105111633"]}
{"category": ["biolink:Disease"], "description": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.", "id": "MONDO:0015738", "name": "Childhood-onset nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mild nemaline myopathy"], "xref": ["GARD:0007171", "MEDGEN:154265", "Orphanet:171439", "UMLS:C0546125"]}
{"category": ["biolink:Disease"], "description": "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.", "id": "MONDO:0015739", "name": "Adult-onset nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012824", "MEDGEN:154264", "Orphanet:171442", "UMLS:C0546123", "icd11.foundation:1610331066"]}
{"category": ["biolink:Disease"], "description": "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.", "id": "MONDO:0015740", "name": "Trisomy 18p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 18p", "Duplication of the short arm of chromosome 18", "trisomy of the short arm of chromosome 18", "trisomy type 18p"], "xref": ["GARD:0005323", "MEDGEN:419907", "MESH:C538307", "Orphanet:1715", "UMLS:C2931811", "icd11.foundation:2079728626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015741", "name": "Distal trisomy 18q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal duplication 18q", "distal trisomy type 18q", "telomeric duplication 18q", "trisomy 18qter"], "xref": ["GARD:0018742", "MEDGEN:1674040", "Orphanet:1716", "UMLS:C5190516"]}
{"category": ["biolink:Disease"], "description": "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.", "id": "MONDO:0015742", "name": "Periventricular leukomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:13088", "EFO:1001101", "ICD9:742.8", "ICD9:779.7", "MEDGEN:6072", "MESH:D007969", "MedDRA:10052594", "NCIT:C99013", "Orphanet:171676", "SCTID:230769007", "UMLS:C0023529"]}
{"category": ["biolink:Disease"], "description": "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.", "id": "MONDO:0015743", "name": "Idiopathic bilateral vestibulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020124", "MEDGEN:1622940", "Orphanet:171684", "SCTID:737580004", "UMLS:C4545229", "icd11.foundation:1394072237"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.", "id": "MONDO:0015744", "name": "Distal trisomy 19q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 19q", "distal trisomy type 19q", "telomeric duplication 19q", "trisomy 19qter"], "xref": ["GARD:0018743", "MEDGEN:1646863", "Orphanet:1717", "SCTID:766052008", "UMLS:C4707664"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.", "id": "MONDO:0015745", "name": "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020125", "MEDGEN:1653942", "Orphanet:171703", "UMLS:C4750772"]}
{"category": ["biolink:Disease"], "description": "A male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida following intercourse or IVF thus fertilization fails. Fertilization efficiency is also very low following intracytoplasmic spem injection due to the absence of the oocyte activation factor protein PLCzeta.", "id": "MONDO:0015746", "name": "Male infertility due to globozoospermia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Male infertility due to round-headed spermatozoa", "male infertility due to globozoospermia", "male infertility due to round-headed spermatozoa", "round-headed sperm syndrome"], "xref": ["DOID:0112312", "GARD:0012502", "MEDGEN:1826006", "Orphanet:171709", "UMLS:C5679591"]}
{"category": ["biolink:Disease"], "description": "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.", "id": "MONDO:0015748", "name": "White sponge nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["White sponge nevus of Cannon", "hereditary mucosal leukokeratosis", "white sponge nevus", "white sponge nevus of Cannon"], "xref": ["DOID:0050448", "GARD:0008501", "ICD9:528.6", "MEDGEN:328433", "MESH:D053529", "NCIT:C84760", "OMIMPS:193900", "Orphanet:171723", "SCTID:389203001", "UMLS:C1721005"]}
{"category": ["biolink:Disease"], "description": "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.", "id": "MONDO:0015749", "name": "6q16 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(6)(q16)", "Prader-Willi-like syndrome due to deletion 6q16", "monosomy 6q16"], "xref": ["GARD:0020126", "MEDGEN:1759989", "Orphanet:171829", "UMLS:C5438727"]}
{"category": ["biolink:Disease"], "description": "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.", "id": "MONDO:0015751", "name": "Craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Berant syndrome", "Capra-DeMarco syndrome", "familial scaphocephaly-radioulnar synostosis syndrome"], "xref": ["GARD:0020127", "MEDGEN:923699", "Orphanet:171839", "SCTID:720815000", "UMLS:C3267187"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.", "id": "MONDO:0015752", "name": "Intellectual disability-cataracts-kyphosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:171860"]}
{"category": ["biolink:Disease"], "description": "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.", "id": "MONDO:0015753", "name": "Cap myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cap disease"], "xref": ["GARD:0011915", "MEDGEN:777197", "MESH:C579969", "Orphanet:171881", "SCTID:703532002", "UMLS:C3710589"]}
{"category": ["biolink:Disease"], "description": "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.", "id": "MONDO:0015755", "name": "Myopathy with hexagonally cross-linked tubular arrays", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020129", "MEDGEN:1636081", "Orphanet:171889", "SCTID:764994007", "UMLS:C4707259", "icd11.foundation:1953170361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015756", "name": "Myeloid hemopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020130", "MEDGEN:1842523", "Orphanet:171895", "UMLS:C5680514"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015757", "name": "Lymphoid hemopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020131", "MEDGEN:1842533", "Orphanet:171898", "UMLS:C5680515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015758", "name": "Primary cutaneous t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0006226", "MEDGEN:36336", "MedDRA:10011677", "Orphanet:171901", "UMLS:C0079773"]}
{"category": ["biolink:Disease"], "description": "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003", "id": "MONDO:0015759", "name": "B-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["B-cell NHL", "B-cell lymphoma", "B-cell non Hodgkin's lymphoma", "B-cell non-Hodgkin lymphoma", "B-cell non-Hodgkin's lymphoma", "lymphomas non-Hodgkin's B-cell", "non-Hodgkin's B-cell lymphoma", "non-Hodgkin's lymphoma B-cell"], "xref": ["EFO:1001938", "GARD:0020132", "NANDO:2200020", "NCIT:C3457", "Orphanet:171915"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003", "id": "MONDO:0015760", "name": "T-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["T cell lymphoma", "T-cell NHL", "T-cell and NK-cell non-Hodgkin lymphoma", "T-cell and NK-cell non-Hodgkin's lymphoma", "T-cell lymphoma", "T-cell non-Hodgkin lymphoma", "T-cell non-Hodgkin's lymphoma", "non-Hodgkin's T-cell lymphoma"], "xref": ["DOID:0081312", "GARD:0020133", "ICD9:202.70", "MEDGEN:86957", "MESH:D016399", "MedDRA:10042971", "NCIT:C3466", "Orphanet:171918", "SCTID:109978004", "UMLS:C0079772"]}
{"category": ["biolink:Disease"], "description": "Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.", "id": "MONDO:0015761", "name": "Trisomy 10p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["trisomy type 10p"], "xref": ["GARD:0005299", "MEDGEN:904688", "MESH:C538290", "Orphanet:171929", "SCTID:717157006", "UMLS:C4082793"]}
{"category": ["biolink:Disease"], "description": "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.", "id": "MONDO:0015762", "name": "Progressive familial intrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PFIC", "cholestasis, progressive familial intrahepatic"], "xref": ["DOID:0070221", "GARD:0015255", "MEDGEN:75668", "NANDO:1201042", "NANDO:2200933", "NCIT:C84453", "OMIMPS:211600", "Orphanet:172", "UMLS:C0268312", "icd11.foundation:1457142642"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.", "id": "MONDO:0015763", "name": "Mosaic trisomy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 2", "Mosaic trisomy type 2", "trisomy 2 mosaicism"], "xref": ["GARD:0005331", "MEDGEN:1631294", "Orphanet:1723", "SCTID:764623009", "UMLS:C4707010"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.", "id": "MONDO:0015764", "name": "Mosaic trisomy 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 20", "Mosaic trisomy type 20"], "xref": ["GARD:0018744", "MEDGEN:1876689", "Orphanet:1724", "UMLS:C5979884"]}
{"category": ["biolink:Disease"], "description": "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.", "id": "MONDO:0015766", "name": "Cholera", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Vibrio cholerae caused disease or disorder", "Vibrio cholerae disease or disorder", "Vibrio cholerae infectious disease", "cholera due to Vibrio cholerae"], "xref": ["DOID:1498", "GARD:0006043", "ICD10CM:A00", "ICD10WHO:A00", "ICD9:001", "ICD9:001.0", "ICD9:001.9", "MEDGEN:40263", "MESH:D002771", "MedDRA:10008631", "NCIT:C157812", "NORD:928", "Orphanet:173", "SCTID:63650001", "UMLS:C0008354", "icd11.foundation:257068234"]}
{"category": ["biolink:Disease"], "description": "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.", "id": "MONDO:0015767", "name": "Trisomy 4p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 4p", "Duplication of the short arm of chromosome 4", "trisomy of the short arm of chromosome 4", "trisomy type 4p"], "xref": ["GARD:0006091", "MEDGEN:419836", "MESH:C537643", "Orphanet:1738", "UMLS:C2931571"]}
{"category": ["biolink:Disease"], "description": "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.", "id": "MONDO:0015768", "name": "Trisomy 5p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 5, Trisomy 5p", "Duplication 5p", "Duplication of the short arm of chromosome 5", "trisomy of the short arm of chromosome 5", "trisomy type 5p"], "xref": ["GARD:0006093", "MEDGEN:1672500", "NORD:957", "Orphanet:1742", "UMLS:C0812464"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.", "id": "MONDO:0015769", "name": "Distal trisomy 6p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal duplication 6p", "distal trisomy type 6p", "telomeric duplication 6p", "trisomy 6pter"], "xref": ["GARD:0018745", "MEDGEN:928220", "Orphanet:1745", "SCTID:722430008", "UMLS:C4302551"]}
{"category": ["biolink:Disease"], "description": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).", "id": "MONDO:0015770", "name": "Congenital hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020135", "MEDGEN:859097", "NANDO:1200383", "NCIT:C120162", "Orphanet:174590", "SCTID:722944006", "UMLS:C3899503", "icd11.foundation:1752075408"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.", "id": "MONDO:0015771", "name": "Mosaic trisomy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy type 7"], "xref": ["GARD:0005354", "MEDGEN:419125", "MESH:C537822", "Orphanet:1747", "SCTID:764630003", "UMLS:C2931631"]}
{"category": ["biolink:Disease"], "description": "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.", "id": "MONDO:0015772", "name": "Trisomy 8q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 8q", "trisomy type 8q"], "xref": ["GARD:0005362", "MEDGEN:162775", "MESH:C538020", "NCIT:C36428", "Orphanet:1752", "UMLS:C0795829", "icd11.foundation:573390171"]}
{"category": ["biolink:Disease"], "description": "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.", "id": "MONDO:0015773", "name": "Fibular dimelia-diplopodia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["leg duplication-mirror foot syndrome"], "xref": ["GARD:0018746", "MEDGEN:929427", "Orphanet:1757", "SCTID:720953006", "UMLS:C4303758"]}
{"category": ["biolink:Disease"], "description": "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.", "id": "MONDO:0015774", "name": "Thoraco-abdominal enteric duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005181", "MEDGEN:1372227", "Orphanet:1759", "SCTID:733628001", "UMLS:C4518084", "icd11.foundation:1267632171"]}
{"category": ["biolink:Disease"], "description": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.", "id": "MONDO:0015775", "name": "Non-rhizomelic chondrodysplasia punctata", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018679", "MEDGEN:1842643", "Orphanet:176", "UMLS:C5681009"]}
{"category": ["biolink:Disease"], "description": "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.", "id": "MONDO:0015776", "name": "Rhizomelic chondrodysplasia punctata", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RCDP", "rhizomelic chondrodysplasia punctata", "rhizomelic chondrodysplasia punctata syndrome", "rhizomelic dwarfism"], "xref": ["DOID:2580", "GARD:0013160", "ICD10CM:E71.540", "MEDGEN:79471", "MESH:D018902", "NCIT:C85047", "OMIMPS:215100", "Orphanet:177", "SCTID:56692003", "UMLS:C0282529", "icd11.foundation:260357080"]}
{"category": ["biolink:Disease"], "description": "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.", "id": "MONDO:0015779", "name": "45,x/46,xy mixed gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["45,X/46,XY MGD", "45,X/46,XY disorder of Sex development", "45,X/46,XY gonadal dysgenesis", "45,X0/46,XY MGD", "45,X0/46,XY mixed gonadal dysgenesis", "XY/X0"], "xref": ["DOID:0080656", "GARD:0018747", "NANDO:2200388", "NCIT:C120199", "Orphanet:1772"]}
{"category": ["biolink:Disease"], "description": "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.", "id": "MONDO:0015780", "name": "Dyskeratosis congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DC", "DKC", "Zinsser-Engman-Cole syndrome", "dyskeratosis congenita"], "xref": ["DOID:2729", "GARD:0010905", "MEDGEN:78580", "MESH:D019871", "MedDRA:10062759", "NANDO:1200304", "NANDO:1200342", "NANDO:2200715", "NCIT:C111802", "NORD:1071", "OMIMPS:127550", "Orphanet:1775", "SCTID:74911008", "UMLS:C0265965", "icd11.foundation:1531033936"]}
{"category": ["biolink:Disease"], "description": "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.", "id": "MONDO:0015781", "name": "Facial dysmorphism-shawl scrotum-joint laxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Seaver-Cassidy syndrome"], "xref": ["GARD:0004778", "MEDGEN:419099", "MESH:C537529", "Orphanet:1778", "SCTID:716337006", "UMLS:C2931522"]}
{"category": ["biolink:Disease"], "description": "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.", "id": "MONDO:0015782", "name": "Dysmorphism-cleft palate-loose skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002009", "MEDGEN:1642311", "Orphanet:1779", "UMLS:C4706366"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015783", "name": "Prader-willi syndrome due to paternal deletion of 15q11q13 type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Prader-Willi syndrome (Type 1)"], "xref": ["DECIPHER:14", "GARD:0020138", "MEDGEN:1826083", "Orphanet:177901", "UMLS:C5680507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015784", "name": "Prader-willi syndrome due to paternal deletion of 15q11q13 type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Prader-Willi Syndrome (Type 2)"], "xref": ["DECIPHER:53", "GARD:0020139", "MEDGEN:1826084", "Orphanet:177904", "UMLS:C5680508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015785", "name": "Prader-willi syndrome due to translocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017074", "MEDGEN:1826085", "Orphanet:177907", "UMLS:C5680509"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015786", "name": "Prader-willi syndrome due to imprinting mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017075", "MEDGEN:1826086", "Orphanet:177910", "UMLS:C5680510"]}
{"category": ["biolink:Disease"], "description": "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.", "id": "MONDO:0015787", "name": "Symptomatic form of hemophilia a in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017076", "MEDGEN:1843218", "Orphanet:177926", "UMLS:C5680504"]}
{"category": ["biolink:Disease"], "description": "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.", "id": "MONDO:0015788", "name": "Symptomatic form of hemophilia b in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017077", "MEDGEN:1843014", "Orphanet:177929", "UMLS:C5680505"]}
{"category": ["biolink:Disease"], "description": "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).", "id": "MONDO:0015790", "name": "Central diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CDI", "neurogenic diabetes insipidus"], "xref": ["DOID:0081055", "GARD:0006015", "HP:0000863", "MEDGEN:146919", "MedDRA:10068587", "NANDO:1200375", "NANDO:2200324", "Orphanet:178029", "UMLS:C0687720", "icd11.foundation:1009553897"]}
{"category": ["biolink:Disease"], "description": "Precocious puberty caused by sex hormones.", "id": "MONDO:0015791", "name": "Peripheral precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GIPP", "gonadotropin independent precocious puberty", "gonadotropin-independent precocious puberty", "precocious pseudopuberty"], "xref": ["GARD:0020141", "MEDGEN:1842596", "NANDO:2200378", "Orphanet:178040", "SCTID:736606009", "UMLS:C5680513", "icd11.foundation:1495024153"]}
{"category": ["biolink:Disease"], "description": "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.", "id": "MONDO:0015792", "name": "Transient congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["THOP", "hypothyroxinemia of prematurity", "transient hypothyroxinemia of prematurity"], "xref": ["GARD:0020142", "MEDGEN:820541", "NCIT:C113171", "Orphanet:178045", "SCTID:119181000119104", "UMLS:C3827793", "icd11.foundation:592246939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015793", "name": "Moderate multiminicore disease with hand involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017078", "MEDGEN:396213", "Orphanet:178145", "UMLS:C1861753"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015794", "name": "Antenatal multiminicore disease with arthrogryposis multiplex congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020143", "MEDGEN:334470", "Orphanet:178148", "UMLS:C1843691"]}
{"category": ["biolink:Disease"], "description": "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.", "id": "MONDO:0015795", "name": "Undifferentiated embryonal sarcoma of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UES", "embryonal sarcoma of the liver", "undifferentiated sarcoma of the liver"], "xref": ["GARD:0020145", "MEDGEN:902204", "ONCOTREE:UESL", "Orphanet:178315", "SCTID:716648006", "UMLS:C2205345"]}
{"category": ["biolink:Disease"], "description": "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).", "id": "MONDO:0015796", "name": "Acute lung injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0004610", "MESH:D055371", "MedDRA:10069351", "NCIT:C155766", "Orphanet:178320", "SCTID:315345002"]}
{"category": ["biolink:Disease"], "description": "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.", "id": "MONDO:0015797", "name": "Uv-sensitive syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060240", "GARD:0010947", "ICD9:702.8", "MEDGEN:322222", "MESH:C563466", "OMIMPS:600630", "Orphanet:178338", "SCTID:698253007", "UMLS:C1833561"]}
{"category": ["biolink:Disease"], "description": "A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.", "id": "MONDO:0015798", "name": "Inflammatory myofibroblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMT", "inflammatory fibrosarcoma", "inflammatory myofibroblastic neoplasm", "inflammatory myofibroblastic tumor", "inflammatory pseudotumor"], "xref": ["DOID:0050905", "GARD:0007146", "ICDO:8825/1", "MEDGEN:137723", "MESH:D006104", "MedDRA:10067917", "NCIT:C6481", "ONCOTREE:IMT", "Orphanet:178342", "UMLS:C0334121"]}
{"category": ["biolink:Disease"], "description": "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.", "id": "MONDO:0015799", "name": "Smith-mccort dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060247", "GARD:0010620", "MEDGEN:375887", "MESH:C564589", "OMIMPS:607326", "Orphanet:178355", "SCTID:715862006", "UMLS:C1846431", "icd11.foundation:1800275830"]}
{"category": ["biolink:Disease"], "description": "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.", "id": "MONDO:0015800", "name": "Osteosclerosis-developmental delay-craniosynostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020147", "MEDGEN:928487", "Orphanet:178377", "SCTID:722117000", "UMLS:C4302818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015801", "name": "Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020148", "MEDGEN:1675899", "Orphanet:178396", "UMLS:C5190706", "icd11.foundation:59972355"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of non-syndromic intellectual disability.", "id": "MONDO:0015802", "name": "Autosomal dominant non-syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant non-syndromic intellectual disability", "non-syndromic intellectual disability, autosomal dominant"], "xref": ["DOID:0060307", "GARD:0012107", "MEDGEN:1826082", "Orphanet:178469", "UMLS:C5680502"]}
{"category": ["biolink:Disease"], "description": "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.", "id": "MONDO:0015803", "name": "Wound botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["cutaneous infectious botulism", "cutaneous toxin-mediated botulism", "inoculation botulism", "skin infectious botulism", "skin toxin-mediated botulism"], "xref": ["DOID:0050353", "GARD:0020149", "ICD10CM:A48.52", "ICD9:040.42", "MEDGEN:224933", "NCIT:C128342", "Orphanet:178475", "SCTID:398530003", "UMLS:C1306794", "icd11.foundation:1674998448"]}
{"category": ["biolink:Disease"], "description": "A botulism that occurs between 28 days to one year of life..", "id": "MONDO:0015804", "name": "Infant botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["botulism of infancy", "infant intestinal botulism", "infant intestinal toxaemia botulism", "infant intestinal toxemia botulism", "infant intestinal toxin-mediated botulism", "infantile botulism", "infantile onset botulism"], "xref": ["DOID:0050354", "GARD:0020150", "ICD10CM:A48.51", "MEDGEN:68649", "NCIT:C128343", "Orphanet:178478", "SCTID:414488002", "UMLS:C0238027"]}
{"category": ["biolink:Disease"], "description": "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).", "id": "MONDO:0015805", "name": "Intestinal botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["intestinal colonisation botulism", "intestinal colonization botulism", "intestinal toxaemia botulism", "intestinal toxemia botulism", "intestinal toxin-mediated botulism"], "xref": ["DOID:0050141", "GARD:0020151", "MEDGEN:731170", "Orphanet:178481", "SCTID:409563004", "UMLS:C1443901"]}
{"category": ["biolink:Disease"], "description": "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.", "id": "MONDO:0015806", "name": "Adult intestinal botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["adult intestinal colonisation botulism", "adult intestinal colonization botulism", "adult intestinal toxaemia botulism", "adult intestinal toxemia botulism", "adult intestinal toxin-mediated botulism", "infant-like botulism", "intestinal botulism of adults"], "xref": ["GARD:0020152", "MEDGEN:927523", "NCIT:C128344", "Orphanet:178487", "UMLS:C4289991", "icd11.foundation:1601222948"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015807", "name": "Myopic macular degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["myopic maculopathy"], "xref": ["EFO:0009201", "GARD:0020153", "MEDGEN:676480", "Orphanet:178493", "SCTID:312898002", "UMLS:C0730271"]}
{"category": ["biolink:Disease"], "description": "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.", "id": "MONDO:0015808", "name": "Folliculotropic mycosis fungoides", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["follicular mucinosis type mycosis fungoides", "follicular mycosis fungoides", "folliculotropic mycosis fungoides", "mycosis fungoides-associated follicular mucinosis"], "xref": ["GARD:0020154", "ICD9:701.8", "MEDGEN:302080", "NCIT:C35685", "Orphanet:178512", "SCTID:404109006", "UMLS:C1627767", "icd11.foundation:1335995469"]}
{"category": ["biolink:Disease"], "description": "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.", "id": "MONDO:0015809", "name": "Localized pagetoid reticulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["localised reticulosis", "localized reticulosis", "pagetoid reticulosis", "pagetoid reticulosis, Woringer-Kolopp type"], "xref": ["GARD:0020155", "ICD9:202.70", "MEDGEN:699349", "MESH:D056267", "NCIT:C35794", "Orphanet:178517", "SCTID:404120006", "UMLS:C1276140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015810", "name": "Primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020156", "MEDGEN:1842165", "Orphanet:178522", "UMLS:C5680503"]}
{"category": ["biolink:Disease"], "description": "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.", "id": "MONDO:0015811", "name": "Primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Berti lymphoma", "primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma"], "xref": ["GARD:0020157", "MEDGEN:1388716", "NCIT:C45339", "Orphanet:178528", "SCTID:765136002", "UMLS:C4518232"]}
{"category": ["biolink:Disease"], "description": "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.", "id": "MONDO:0015812", "name": "Primary cutaneous gamma/delta-positive t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020158", "Orphanet:178533"]}
{"category": ["biolink:Disease"], "description": "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.", "id": "MONDO:0015813", "name": "Primary cutaneous marginal zone b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C-MALT", "PCMZL", "Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue", "Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue", "Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue", "cutaneous Immunocytoma", "marginal zone B cell lymphoma of skin", "marginal zone B cell lymphoma of the skin", "salt lymphoma", "skin-associated lymphoid tissue lymphoma"], "xref": ["GARD:0020159", "MEDGEN:698594", "NCIT:C7230", "Orphanet:178536", "SCTID:404140004", "UMLS:C1275321"]}
{"category": ["biolink:Disease"], "description": "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.", "id": "MONDO:0015814", "name": "Primary cutaneous follicle center lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Crosti's disease", "PCFCL", "Reticulohistiocytoma of the dorsum", "cutaneous follicle center lymphoma", "cutaneous follicle centre lymphoma"], "xref": ["GARD:0013701", "ICD10CM:C82.6", "ICDO:9597/3", "MEDGEN:234180", "NCIT:C7217", "ONCOTREE:PCFCL", "Orphanet:178540", "SCTID:404143002", "UMLS:C1333171", "icd11.foundation:77501812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015816", "name": "Indolent primary cutaneous t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020161", "MEDGEN:1843370", "Orphanet:178548", "UMLS:C5680498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015819", "name": "Indolent primary cutaneous b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020164", "MEDGEN:1843003", "Orphanet:178557", "UMLS:C5680499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015820", "name": "Primary cutaneous b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020165", "ICD9:202.80", "MEDGEN:697651", "NCIT:C6858", "Orphanet:178563", "SCTID:402881008", "UMLS:C1274310"]}
{"category": ["biolink:Disease"], "description": "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.", "id": "MONDO:0015821", "name": "Mycosis fungoides and variants", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020166", "Orphanet:178566", "icd11.foundation:2036068731"]}
{"category": ["biolink:Disease"], "description": "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.", "id": "MONDO:0015824", "name": "Oculomaxillofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Richieri-Costa-Gorlin syndrome"], "xref": ["GARD:0004046", "MEDGEN:333072", "MESH:C537736", "Orphanet:1794", "SCTID:763830009", "UMLS:C1838348", "icd11.foundation:921026296"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.", "id": "MONDO:0015826", "name": "Autosomal dominant spondylocostal dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant spondylocostal dysplasia", "spondylocostal dysostosis, autosomal dominant"], "xref": ["GARD:0012806", "MEDGEN:902919", "Orphanet:1797", "SCTID:716232002", "UMLS:C4274761"]}
{"category": ["biolink:Disease"], "description": "A kidney disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis is often associated with hypokalemia whereas acquired form may be associated with hypokalemia, hyperkalemia or normokalemia.", "id": "MONDO:0015827", "name": "Distal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Primary Distal Renal Tubular Acidosis", "classic RTA", "dRTA", "distal renal tubular acidosis (disease)", "familial distal primary acidosis", "renal tubular acidosis type 1"], "xref": ["GARD:0004667", "HP:0008341", "ICD9:588.89", "MEDGEN:853429", "MedDRA:10045224", "NORD:1969", "Orphanet:18", "SCTID:236461000", "UMLS:C1704380"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015830", "name": "Partial bilateral aplasia of the mullerian ducts", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["incomplete bilateral aplasia of the Mullerian ducts", "incomplete bilateral aplasia of the Müllerian ducts"], "xref": ["GARD:0020172", "MEDGEN:1843187", "Orphanet:180068", "UMLS:C5679589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015831", "name": "Unilateral aplasia of the mullerian ducts", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["unicornuate uterus"], "xref": ["GARD:0020173", "MEDGEN:78600", "Orphanet:180071", "UMLS:C0266389"]}
{"category": ["biolink:Disease"], "description": "True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.", "id": "MONDO:0015832", "name": "True unicornuate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["complete unilateral Mullerian aplasia", "complete unilateral Müllerian aplasia", "complete unilateral aplasia of the Mullerian ducts", "complete unilateral aplasia of the Müllerian ducts", "unicornuate uterus without rudimentary horn"], "xref": ["GARD:0020174", "MEDGEN:1863468", "Orphanet:180074", "UMLS:C5848180", "icd11.foundation:113532659"]}
{"category": ["biolink:Disease"], "description": "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.", "id": "MONDO:0015833", "name": "Pseudounicornuate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["incomplete unilateral Mullerian aplasia", "incomplete unilateral Müllerian aplasia", "incomplete unilateral aplasia of the Mullerian ducts", "incomplete unilateral aplasia of the Müllerian ducts", "unicornuate uterus with rudimentary horn"], "xref": ["GARD:0020175", "MEDGEN:1657403", "Orphanet:180079", "UMLS:C4749300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015834", "name": "Didelphys uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Bicervical bicornuate uterus"], "xref": ["GARD:0020176", "ICD9:752.2", "MEDGEN:82740", "MedDRA:10012770", "Orphanet:180086", "SCTID:15545001", "UMLS:C0266393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015835", "name": "Bicervical bicornuate uterus and blind hemivagina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020177", "MEDGEN:1842173", "Orphanet:180106", "UMLS:C5680489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015836", "name": "Bicervical bicornuate uterus with patent cervix and vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020178", "MEDGEN:1842271", "Orphanet:180111", "UMLS:C5680491", "icd11.foundation:1145216664"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015838", "name": "Cordiform uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly"], "synonym": ["uterus arcuatus", "uterus cordiformis"], "xref": ["MEDGEN:539891", "Orphanet:180118", "SCTID:14689000", "UMLS:C0266397", "icd11.foundation:282476394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015839", "name": "Septate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020180", "MEDGEN:56272", "MedDRA:10062606", "Orphanet:180122", "SCTID:22504001", "UMLS:C0152240", "icd11.foundation:1959106408"]}
{"category": ["biolink:Disease"], "description": "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.", "id": "MONDO:0015840", "name": "Complete septate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["total septate uterus"], "xref": ["GARD:0020181", "MEDGEN:1672501", "Orphanet:180126", "UMLS:C2957116"]}
{"category": ["biolink:Disease"], "description": "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.", "id": "MONDO:0015841", "name": "Partial septate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["subtotal septate uterus", "uterus subseptus"], "xref": ["GARD:0020182", "MEDGEN:539894", "Orphanet:180129", "SCTID:5364006", "UMLS:C0266401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015842", "name": "Bicornuate uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020183", "MEDGEN:78599", "MedDRA:10004550", "Orphanet:180134", "SCTID:31401003", "UMLS:C0266387", "icd11.foundation:1965739367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015843", "name": "Uterine hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020184", "MEDGEN:120575", "MedDRA:10063146", "Orphanet:180139", "UMLS:C0266399", "icd11.foundation:1858530341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015844", "name": "Agenesis and aplasia of uterine body", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020185", "MEDGEN:1687110", "Orphanet:180142", "UMLS:C5230999", "icd11.foundation:25664922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015845", "name": "Uterine cervical aplasia and agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020186", "MEDGEN:1673872", "Orphanet:180145", "UMLS:C5190813", "icd11.foundation:1670353767"]}
{"category": ["biolink:Disease"], "description": "A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.", "id": "MONDO:0015849", "name": "Longitudinal vaginal septum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020190", "HP:0008740", "ICD10CM:Q52.12", "MEDGEN:331104", "Orphanet:180157", "UMLS:C1841680", "icd11.foundation:1594393492"]}
{"category": ["biolink:Disease"], "description": "A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.", "id": "MONDO:0015850", "name": "Transverse vaginal septum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020191", "HP:0000145", "ICD10CM:Q52.11", "MEDGEN:341032", "Orphanet:180160", "UMLS:C1856006", "icd11.foundation:1265288464"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015854", "name": "Supernumerary breasts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["accessory breasts", "polymastia"], "xref": ["GARD:0020195", "MEDGEN:78583", "MedDRA:10049786", "Orphanet:180182", "UMLS:C0266010", "icd11.foundation:1458532658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015855", "name": "Isolated congenital breast hypoplasia/aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["breasts and/or nipples, aplasia or hypoplasia of", "isolated congenital amastia"], "xref": ["GARD:0009489", "MEDGEN:98489", "OMIMPS:113700", "Orphanet:180188", "UMLS:C0432357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015856", "name": "Syndromic breast hypoplasia/aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020196", "MEDGEN:1842220", "Orphanet:180193", "UMLS:C5680482"]}
{"category": ["biolink:Disease"], "description": "Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.", "id": "MONDO:0015863", "name": "Polyembryoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009621", "MEDGEN:83160", "NANDO:2200068", "NCIT:C66776", "Orphanet:180229", "UMLS:C0334518"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.", "id": "MONDO:0015864", "name": "Mixed germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined germ cell neoplasm", "combined germ cell tumor", "combined germ cell tumour", "mixed germ cell cancer", "mixed germ cell neoplasm", "mixed germ cell tumor"], "xref": ["DOID:3306", "GARD:0020202", "ICDO:9085/3", "MEDGEN:87257", "NANDO:2200071", "NCIT:C4290", "Orphanet:180234", "UMLS:C0334524"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.", "id": "MONDO:0015867", "name": "Vaginal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of the vagina", "carcinoma of vagina", "vagina carcinoma", "vaginal carcinoma"], "xref": ["DOID:0050918", "GARD:0009348", "MEDGEN:82653", "NCIT:C3917", "Orphanet:180247", "UMLS:C0262659"]}
{"category": ["biolink:Disease"], "description": "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.", "id": "MONDO:0015871", "name": "Benign breast phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["benign breast phyllodes tumor", "benign phyllodes neoplasm of breast", "benign phyllodes neoplasm of the breast", "benign phyllodes tumor of breast", "benign phyllodes tumor of the breast", "benign phyllodes tumour of breast", "benign phyllodes tumour of the breast", "breast benign phyllodes neoplasm", "breast phyllodes tumor, benign", "cystosarcoma phyllode of the breast", "cystosarcoma phylloide of the breast", "phylloide tumor of the breast", "phylloide tumour of the breast"], "xref": ["DOID:1631", "GARD:0009514", "MEDGEN:231438", "MedDRA:10011813", "NCIT:C5196", "ONCOTREE:BPT", "Orphanet:180261", "SCTID:720344007", "UMLS:C1332533", "icd11.foundation:827143668"]}
{"category": ["biolink:Disease"], "description": "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.", "id": "MONDO:0015873", "name": "Paget disease of the nipple", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Paget disease of the nipple", "Paget's disease of nipple", "Paget's disease of the nipple", "nipple Paget's disease"], "xref": ["GARD:0007303", "MEDGEN:352830", "MedDRA:10033367", "NCIT:C3301", "NORD:1544", "ONCOTREE:PD", "Orphanet:180275", "SCTID:403946000", "UMLS:C1704323", "icd11.foundation:1295910447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015874", "name": "Benign ductal tumor of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:180284"]}
{"category": ["biolink:Disease"], "description": "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.", "id": "MONDO:0015883", "name": "Hidrotic ectodermal dysplasia, halal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Halal-Setton-Wang syndrome", "ectodermal dysplasia with skin anomalies and intellectual disability", "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome"], "xref": ["GARD:0000280", "MEDGEN:443941", "MESH:C535621", "Orphanet:1809", "SCTID:721147000", "UMLS:C2930953", "icd11.foundation:1668450131"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of hypohidrotic ectodermal dysplasia.", "id": "MONDO:0015884", "name": "Autosomal dominant hypohidrotic ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AD-HED", "autosomal dominant anhidrotic ectodermal dysplasia", "hypohidrotic ectodermal dysplasia, autosomal dominant"], "xref": ["GARD:0002048", "MEDGEN:539190", "Orphanet:1810", "UMLS:C0265331", "icd11.foundation:222258115"]}
{"category": ["biolink:Disease"], "description": "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.", "id": "MONDO:0015892", "name": "Growth hormone insensitivity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GHIS", "Growth hormone insensitivity syndromes", "short stature due to a defect in growth hormone receptor or post-receptor pathway"], "xref": ["GARD:0003924", "MEDGEN:1384226", "NANDO:2100114", "NANDO:2200321", "NCIT:C129867", "Orphanet:181393", "UMLS:C4318479"]}
{"category": ["biolink:Disease"], "description": "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.", "id": "MONDO:0015898", "name": "Adrenogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["adrenogenital disorder", "adrenogenital syndrome", "androgenital syndrome"], "xref": ["GARD:0020226", "ICD9:255.2", "MEDGEN:86215", "MESH:D047808", "MedDRA:10061630", "Orphanet:181412", "SCTID:267395000", "UMLS:C0302280", "icd11.foundation:131153029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015900", "name": "Hypoaldosteronism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["rare hypoaldosteronism"], "xref": ["GARD:0020228", "MEDGEN:208996", "MESH:D006994", "NANDO:2100132", "Orphanet:181419", "SCTID:60086000", "UMLS:C0857899"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.", "id": "MONDO:0015903", "name": "Hyperalphalipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HALP1"], "xref": ["GARD:0020230", "ICD9:272.4", "MEDGEN:87465", "NCIT:C128806", "Orphanet:181428", "SCTID:238080004", "UMLS:C0342883", "icd11.foundation:1599779547"]}
{"category": ["biolink:Disease"], "description": "A inherited lipid metabolism disorder that is part of a larger syndrome.", "id": "MONDO:0015905", "name": "Syndromic dyslipidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["complex dyslipidaemia", "complex dyslipidemia", "syndrome associated with inherited lipid metabolism disorder", "syndromic inherited lipid metabolism disorder"], "xref": ["GARD:0020232", "MEDGEN:1826171", "Orphanet:181437", "SCTID:109041000119107", "UMLS:C5680608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015907", "name": "Epimetaphyseal skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:1819"]}
{"category": ["biolink:Disease"], "description": "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.", "id": "MONDO:0015908", "name": "Chromomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromomycosis", "chromoblastomycosis", "chromomycosis"], "xref": ["DOID:1562", "EFO:0007207", "GARD:0001319", "ICD9:117.2", "MEDGEN:3434", "MESH:D002862", "MedDRA:10008803", "Orphanet:182", "SCTID:187079000", "UMLS:C0008582", "icd11.foundation:1438584733"]}
{"category": ["biolink:Disease"], "description": "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.", "id": "MONDO:0015909", "name": "Aplastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:12449", "GARD:0020234", "ICD9:284.8", "ICD9:284.9", "MEDGEN:8063", "MESH:D000741", "NANDO:1200295", "NANDO:1200301", "NANDO:2100201", "NANDO:2200693", "NCIT:C2870", "OMIM:609135", "Orphanet:182040", "SCTID:306058006", "UMLS:C0002874"]}
{"category": ["biolink:Disease"], "description": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.", "id": "MONDO:0015912", "name": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Epstein syndrome", "FTNS", "Fechtner syndrome", "MATINS", "MHA", "MYH9 related disorders", "MYH9-RD", "MYH9-related disease", "MYH9-related disorder", "MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing loss", "MYH9-related syndrome", "MYH9-related syndromic thrombocytopenia", "May-Hegglin anomaly", "SBS", "Sebastian platelet syndrome", "Sebastian syndrome", "giant platelet syndrome with thrombocytopenia", "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "macrothrombocytopenia and progressive sensorineural deafness", "macrothrombocytopenia progressive deafness"], "xref": ["DOID:0060651", "EFO:0009646", "GARD:0000180", "ICD9:287.33", "ICD9:582.89", "ICD9:759.89", "MEDGEN:1704278", "MESH:C537831", "NCIT:C131646", "NCIT:C158788", "OMIM:153640", "OMIM:155100", "OMIM:600208", "OMIM:605249", "Orphanet:1019", "Orphanet:182050", "Orphanet:1984", "Orphanet:807", "Orphanet:850", "SCTID:234484005", "SCTID:234485006", "SCTID:236422008", "SCTID:712922002", "UMLS:C5200934"]}
{"category": ["biolink:Disease"], "description": "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.", "id": "MONDO:0015914", "name": "Primary orthostatic hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["MEDGEN:1842969", "Orphanet:182058", "UMLS:C5680599"]}
{"category": ["biolink:Disease"], "description": "An instance of peripheral neuropathy that is acquired during the lifetime of the individual.", "id": "MONDO:0015923", "name": "Acquired peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired peripheral neuropathy"], "xref": ["MEDGEN:1842976", "Orphanet:182086", "UMLS:C5680596"]}
{"category": ["biolink:Disease"], "description": "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure 20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).", "id": "MONDO:0015924", "name": "Pulmonary arterial hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAH", "pulmonary arterial hypertension"], "xref": ["EFO:0001361", "GARD:0007501", "MEDGEN:425404", "MESH:D000081029", "MedDRA:10064911", "NANDO:1200425", "NANDO:2100103", "NANDO:2200298", "NORD:1634", "Orphanet:182090", "Orphanet:422", "SCTID:11399002", "UMLS:C2973725", "icd11.foundation:1931148955"]}
{"category": ["biolink:Disease"], "description": "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.", "id": "MONDO:0015925", "name": "Interstitial lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["ILD", "interstitial lung disease"], "xref": ["DOID:3082", "EFO:0004244", "ICD10CM:J80-J84", "MEDGEN:1788738", "MESH:D017563", "MedDRA:10022611", "NCIT:C164315", "Orphanet:182095", "SCTID:233703007", "UMLS:C5441745"]}
{"category": ["biolink:Disease"], "description": "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.", "id": "MONDO:0015926", "name": "Pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:10316", "GARD:0020245", "ICD9:505", "MEDGEN:19360", "MESH:D011009", "MedDRA:10035653", "NCIT:C26861", "Orphanet:182098", "SCTID:40122008", "UMLS:C0032273", "icd11.foundation:611962875"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015927", "name": "Idiopathic eosinophilic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020246", "MEDGEN:836928", "Orphanet:182101", "SCTID:708031000", "UMLS:C3872845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015929", "name": "Thoracic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1842414", "NANDO:2201008", "Orphanet:182108", "UMLS:C5680597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015935", "name": "Extragonadal germinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0002005", "MEDGEN:1673080", "MedDRA:10018207", "Orphanet:182127", "UMLS:C5190513"]}
{"category": ["biolink:Disease"], "description": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0015941", "name": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Finucane-Kurtz-Scott syndrome"], "xref": ["GARD:0002178", "MEDGEN:1643947", "Orphanet:1825", "SCTID:766870005", "UMLS:C4707857"]}
{"category": ["biolink:Disease"], "description": "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.", "id": "MONDO:0015942", "name": "Frontometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["frontometaphyseal dysplasia"], "xref": ["DOID:0111785", "GARD:0000826", "ICD9:759.89", "MEDGEN:82703", "MESH:C538064", "OMIMPS:305620", "Orphanet:1826", "SCTID:62803002", "UMLS:C0265293", "icd11.foundation:1767187670"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.", "id": "MONDO:0015943", "name": "Eosinophilic granulomatosis with polyangiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CSS", "Churg Strauss Syndrome", "Churg Strauss syndrome", "Churg-Strauss syndrome", "Churg-Strauss vasculitis", "EGPA", "allergic angiitides", "allergic angiitides, granulomatous", "allergic angiitis", "allergic angiitis and granulomatosis", "allergic angiitis, granulomatous", "allergic granulomatoses", "allergic granulomatosis", "allergic granulomatous Angiitides", "allergic granulomatous and angiitis", "allergic granulomatous angiitis", "angiitides, allergic", "angiitides, allergic granulomatous", "angiitides, granulomatous allergic", "angiitis, allergic", "angiitis, allergic granulomatous", "angiitis, granulomatous allergic", "eosinophilic granulomatous Vasculitides", "eosinophilic granulomatous vasculitis", "granulomatoses, allergic", "granulomatosis, allergic", "granulomatous allergic Angiitides", "granulomatous allergic angiitis", "granulomatous angiitides, allergic", "granulomatous angiitis, allergic", "granulomatous vasculitides, eosinophilic", "granulomatous vasculitis, eosinophilic", "syndrome, Churg-Strauss", "vasculitides, eosinophilic granulomatous", "vasculitis, Churg Strauss", "vasculitis, Churg-Strauss", "vasculitis, eosinophilic granulomatous"], "xref": ["DOID:3049", "EFO:0007208", "GARD:0006111", "ICD10CM:M30.1", "MEDGEN:3088", "MESH:D015267", "MedDRA:10048594", "NANDO:1200264", "NANDO:2200427", "NCIT:C34481", "NORD:973", "Orphanet:183", "SCTID:82275008", "UMLS:C0008728", "icd11.foundation:835880885"]}
{"category": ["biolink:Disease"], "description": "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.", "id": "MONDO:0015944", "name": "Axial mesodermal dysplasia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Russell-Weaver-Bull syndrome", "blastogenesis defect"], "xref": ["GARD:0000213", "MEDGEN:419853", "MESH:C537790", "Orphanet:1834", "SCTID:765755006", "UMLS:C2931613"]}
{"category": ["biolink:Disease"], "description": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.", "id": "MONDO:0015947", "name": "Inherited ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital ichthyosis of skin", "genetic ichthyosis", "hereditary ichthyosis (disease)", "inherited genetic ichthyosis"], "xref": ["GARD:0020261", "ICD10CM:Q80", "ICD9:757.1", "MEDGEN:797407", "MedDRA:10021202", "NANDO:1200609", "NANDO:2100283", "Orphanet:183435", "SCTID:13059002", "UMLS:C0856562"]}
{"category": ["biolink:Disease"], "description": "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.", "id": "MONDO:0015951", "name": "Hereditary photodermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic photosensitivity", "genetic skin photosensitivity"], "xref": ["GARD:0020277", "MEDGEN:1842494", "Orphanet:183490", "UMLS:C5679594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015962", "name": "Inherited renal tubular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020306", "MEDGEN:1826140", "Orphanet:183592", "UMLS:C5680544"]}
{"category": ["biolink:Disease"], "description": "Diabetes mellitus that is caused by mutations in a single gene.", "id": "MONDO:0015967", "name": "Monogenic diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["monogenic diabetes", "rare genetic diabetes mellitus"], "xref": ["EFO:1001511", "MEDGEN:1392102", "NCIT:C129739", "Orphanet:183625", "UMLS:C3888631"]}
{"category": ["biolink:Disease"], "description": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.", "id": "MONDO:0015974", "name": "Severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["SCID", "severe combined immunodeficiency", "severe combined immunodeficiency (disease)", "severe combined immunodeficiency disease"], "xref": ["DOID:627", "GARD:0007628", "HP:0004430", "MEDGEN:88328", "MESH:D016511", "MedDRA:10069566", "NCIT:C3472", "NORD:1706", "Orphanet:183660", "SCTID:31323000", "UMLS:C0085110", "icd11.foundation:963193284"]}
{"category": ["biolink:Disease"], "description": "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.", "id": "MONDO:0015977", "name": "Agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["agammaglobulinemia"], "xref": ["DOID:2583", "GARD:0020320", "ICD9:279.00", "MEDGEN:168", "MESH:D000361", "MedDRA:10001471", "OMIMPS:601495", "Orphanet:183669", "UMLS:C0001768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015978", "name": "Functional neutrophil defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["neutrophil disease", "neutrophilopathy"], "xref": ["GARD:0020321", "MEDGEN:1863601", "Orphanet:183681", "SCTID:105600002", "UMLS:C5924997", "icd11.foundation:808756909"]}
{"category": ["biolink:Disease"], "description": "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.", "id": "MONDO:0015986", "name": "Bilateral renal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Renal Agenesis, Bilateral"], "xref": ["DOID:0080200", "GARD:0016579", "ICD10CM:Q60.1", "MEDGEN:296299", "NCIT:C101219", "NORD:1656", "Orphanet:1848", "UMLS:C1609433"]}
{"category": ["biolink:Disease"], "description": "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.", "id": "MONDO:0015987", "name": "Scimitar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Epibronchial right pulmonary vein syndrome", "Halasz syndrome", "congenital pulmonary venolobar syndrome", "hypogenetic lung syndrome"], "xref": ["EFO:1001167", "GARD:0018680", "ICD9:747.49", "MEDGEN:20675", "MESH:D012587", "MedDRA:10051951", "NCIT:C85056", "Orphanet:185", "SCTID:39905002", "UMLS:C0036400", "icd11.foundation:1321054364"]}
{"category": ["biolink:Disease"], "description": "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.", "id": "MONDO:0015988", "name": "Multicystic dysplastic kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCDK", "multicystic renal dysplasia"], "xref": ["GARD:0018748", "ICD9:753.19", "MEDGEN:811388", "MESH:D021782", "NANDO:2200158", "NCIT:C123031", "Orphanet:1851", "SCTID:204962002", "UMLS:C3714581", "icd11.foundation:1178642763"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.", "id": "MONDO:0015990", "name": "Focal, segmental or multifocal dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018749", "MEDGEN:1842644", "Orphanet:1866", "UMLS:C5680914"]}
{"category": ["biolink:Disease"], "description": "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).", "id": "MONDO:0015991", "name": "Citrullinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["deficiency of citrulline-aspartate ligase"], "xref": ["DOID:9273", "GARD:0016522", "ICD10CM:E72.23", "MEDGEN:104491", "MESH:D020159", "NCIT:C84639", "OMIMPS:215700", "Orphanet:187", "SCTID:124711003", "UMLS:C0175683", "icd11.foundation:640937125"]}
{"category": ["biolink:Disease"], "description": "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.", "id": "MONDO:0015993", "name": "Cone-rod dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRD"], "xref": ["DOID:0050572", "GARD:0010790", "MEDGEN:896366", "MESH:D000071700", "NANDO:1200937", "OMIMPS:120970", "Orphanet:1872", "UMLS:C4085590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0015994", "name": "Muscular dystrophy-white matter spongiosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003854", "Orphanet:1877"]}
{"category": ["biolink:Disease"], "description": "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.", "id": "MONDO:0015995", "name": "Melorheostosis with osteopoikilosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSBD syndrome", "mixed sclerosing bone dystrophy"], "xref": ["GARD:0003690", "MEDGEN:461045", "MESH:C563593", "Orphanet:1879", "UMLS:C3149695", "icd11.foundation:152942585"]}
{"category": ["biolink:Disease"], "description": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.", "id": "MONDO:0015997", "name": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["noble-Bass-Sherman syndrome"], "xref": ["GARD:0003999", "MEDGEN:419715", "MESH:C536124", "Orphanet:1884", "SCTID:722437006", "UMLS:C2931115"]}
{"category": ["biolink:Disease"], "description": "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.", "id": "MONDO:0015998", "name": "Isolated ectopia lentis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ectopia lentis syndrome", "familial ectopia lentis", "isolated lens position anomaly", "nonsyndromic lens position anomaly"], "xref": ["DOID:0111148", "GARD:0012251", "MEDGEN:342716", "MESH:C536184", "MedDRA:10014145", "NCIT:C34566", "Orphanet:1885", "PMID:20141359", "SCTID:74969002", "UMLS:C1851286"]}
{"category": ["biolink:Disease"], "description": "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).", "id": "MONDO:0015999", "name": "Primary pigmented nodular adrenocortical disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPNAD", "pigmented nodular adrenocortical disease", "pigmented nodular adrenocortical disease, primary", "primary pigmented nodular adrenal dysplasia"], "xref": ["DOID:0060280", "GARD:0010906", "MEDGEN:930501", "NCIT:C131196", "OMIMPS:610489", "Orphanet:189439", "SCTID:719274008", "UMLS:C4304832", "icd11.foundation:2003695246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016000", "name": "Familial isolated hypoparathyroidism due to impaired pth secretion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017088", "MEDGEN:1843283", "Orphanet:189466", "UMLS:C5680524"]}
{"category": ["biolink:Disease"], "description": "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.", "id": "MONDO:0016001", "name": "2-hydroxyglutaric aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["2-hydroxyglutaric acidemia", "2-hydroxyglutaric aciduria"], "xref": ["DOID:0050573", "GARD:0010761", "ICD9:270.8", "MEDGEN:412535", "MESH:C535306", "NCIT:C128187", "Orphanet:19", "SCTID:698870008", "UMLS:C2746066"]}
{"category": ["biolink:Disease"], "description": "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.", "id": "MONDO:0016002", "name": "Ehlers-danlos syndrome, kyphoscoliotic type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["EDS 6", "EDS, kyphoscoliotic type", "EDS, oculoscoliotic type", "EDS6", "Ehlers-Danlos syndrome kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type 1", "Ehlers-Danlos syndrome, oculoscoliotic type", "Ehlers-Danlos syndrome, type 6", "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency", "nevo syndrome"], "xref": ["DOID:0080734", "GARD:0022216", "MEDGEN:75672", "MESH:C536198", "NANDO:1200649", "NANDO:2201259", "NCIT:C125700", "OMIM:225400", "Orphanet:1900", "SCTID:718211004", "UMLS:C0268342"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Ehrlichia.", "id": "MONDO:0016003", "name": "Ehrlichiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:10242", "GARD:0002092", "ICD10CM:A77.4", "ICD9:082.4", "ICD9:082.40", "MEDGEN:39039", "MESH:D016873", "Orphanet:1902", "SCTID:240626005", "UMLS:C0085399", "icd11.foundation:1116297863"]}
{"category": ["biolink:Disease"], "description": "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.", "id": "MONDO:0016004", "name": "Aminopterin/methotrexate embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aminopterin embryopathy syndrome", "fetal aminopterin syndrome", "foetal aminopterin syndrome"], "xref": ["ICD9:759.89", "MEDGEN:98491", "MedDRA:10071183", "NCIT:C98928", "Orphanet:1908", "SCTID:65986000", "UMLS:C0432367"]}
{"category": ["biolink:Disease"], "description": "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.", "id": "MONDO:0016005", "name": "Indomethacin embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fetal indomethacin syndrome", "foetal indomethacin syndrome"], "xref": ["MEDGEN:903069", "Orphanet:1909", "SCTID:715430001", "UMLS:C4275138", "icd11.foundation:1929563114"]}
{"category": ["biolink:Disease"], "description": "A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.", "id": "MONDO:0016006", "name": "Cockayne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2962", "GARD:0006122", "ICD9:759.89", "MEDGEN:40363", "MESH:D003057", "MedDRA:10009835", "NANDO:1200677", "NANDO:2200832", "NCIT:C9460", "NORD:982", "Orphanet:191", "SCTID:21086008", "UMLS:C0009207", "icd11.foundation:1206275070"]}
{"category": ["biolink:Disease"], "description": "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.", "id": "MONDO:0016007", "name": "Cocaine embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fetal cocaine syndrome", "foetal cocaine syndrome"], "xref": ["ICD9:760.75", "MEDGEN:140937", "Orphanet:1911", "SCTID:254250002", "UMLS:C0432371", "icd11.foundation:1604796846"]}
{"category": ["biolink:Disease"], "description": "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.", "id": "MONDO:0016008", "name": "Fetal hydantoin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FHS", "fetal dihydantoin syndrome", "foetal dihydantoin syndrome", "phenytoin embryofetopathy"], "xref": ["ICD10CM:Q86.1", "ICD9:759.89", "MEDGEN:75569", "MESH:C537922", "MedDRA:10016508", "NCIT:C98927", "NORD:1139", "Orphanet:1912", "SCTID:70065001", "UMLS:C0265372", "icd11.foundation:1894344911"]}
{"category": ["biolink:Disease"], "description": "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.", "id": "MONDO:0016009", "name": "Fetal trimethadione syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["ICD9:759.89", "MEDGEN:120538", "MESH:C537798", "Orphanet:1913", "SCTID:66351003", "UMLS:C0265373", "icd11.foundation:1743242235"]}
{"category": ["biolink:Disease"], "description": "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.", "id": "MONDO:0016010", "name": "Vitamin k-antagonist embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["di Sala syndrome", "fetal Coumadin syndrome", "fetal warfarin syndrome", "foetal Coumadin syndrome", "foetal warfarin syndrome", "vitamin K antagonist embryopathy", "vitamin K-antagonist embryofetopathy", "vitamin K-antagonist embryopathy", "warfarin embryofetopathy", "warfarin embryopathy"], "xref": ["ICD9:759.89", "MEDGEN:75570", "MESH:C536683", "MedDRA:10051445", "NCIT:C98906", "Orphanet:1914", "SCTID:38323006", "UMLS:C0265374", "icd11.foundation:71579696"]}
{"category": ["biolink:Disease"], "description": "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height 10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).", "id": "MONDO:0016011", "name": "Fetal alcohol syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ARBD", "ARND", "FAS", "alcohol-related neurodevelopmental disorder"], "xref": ["DOID:0050665", "DOID:0050667", "ICD10CM:Q86.0", "MEDGEN:8820", "MedDRA:10016845", "NCIT:C84713", "Orphanet:1915", "SCTID:205788004", "UMLS:C0015923", "icd11.foundation:362980699"]}
{"category": ["biolink:Disease"], "description": "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.", "id": "MONDO:0016012", "name": "Diethylstilbestrol syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DES embryofetopathy", "DES syndrome", "Distilbene embryofetopathy", "diethylstilbestrol embryofetopathy"], "xref": ["DOID:0051077", "MEDGEN:799290", "MedDRA:10012780", "NCIT:C113422", "Orphanet:1916", "SCTID:716005004", "UMLS:C0853695", "icd11.foundation:1134098724"]}
{"category": ["biolink:Disease"], "description": "Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.", "id": "MONDO:0016013", "name": "Fetal methylmercury syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Methyl mercury antenatal infection"], "xref": ["GARD:0003575", "ICD9:759.89", "MEDGEN:82710", "MESH:D020262", "Orphanet:1917", "SCTID:62110005", "UMLS:C0265376", "icd11.foundation:1975519045"]}
{"category": ["biolink:Disease"], "description": "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.", "id": "MONDO:0016014", "name": "Fetal minoxidil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["minoxidil antenatal infection"], "xref": ["ICD9:760.79", "MEDGEN:96601", "Orphanet:1918", "SCTID:254251003", "UMLS:C0432373", "icd11.foundation:4930572"]}
{"category": ["biolink:Disease"], "description": "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.", "id": "MONDO:0016015", "name": "Phenobarbital embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:895102", "Orphanet:1919", "SCTID:715431002", "UMLS:C4275281", "icd11.foundation:1602901948"]}
{"category": ["biolink:Disease"], "description": "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.", "id": "MONDO:0016016", "name": "Toluene embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["toluene embryopathy"], "xref": ["GARD:0018751", "MEDGEN:444131", "MESH:C538114", "Orphanet:1920", "UMLS:C2931737", "icd11.foundation:1446076607"]}
{"category": ["biolink:Disease"], "description": "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.", "id": "MONDO:0016017", "name": "Methimazole embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MMI/CMZ embryofetopathy", "MMI/CMZ embryopathy", "Methimazole/carbimazole embryofetopathy", "Methimazole/carbimazole embryopathy", "methimazole embryofetopathy"], "xref": ["MEDGEN:1388574", "Orphanet:1923", "SCTID:724144006", "UMLS:C4510379", "icd11.foundation:1204409156"]}
{"category": ["biolink:Disease"], "description": "Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.", "id": "MONDO:0016018", "name": "Diabetic embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016580", "MEDGEN:823266", "NCIT:C113485", "Orphanet:1926", "SCTID:716020005", "UMLS:C3830518", "icd11.foundation:778367655"]}
{"category": ["biolink:Disease"], "description": "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.", "id": "MONDO:0016019", "name": "Rasmussen subacute encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CFE", "Rasmussen Encephalitis", "Rasmussen encephalitis", "Rasmussen syndrome", "Rasmussen’s encephalitis", "Rasmussen’s syndrome", "chronic focal encephalitis"], "xref": ["GARD:0018752", "ICD9:323.9", "MEDGEN:418934", "MESH:C535291", "NANDO:1200598", "NANDO:2100246", "NANDO:2200900", "NCIT:C125384", "NORD:1649", "Orphanet:1929", "SCTID:230191005", "UMLS:C2930868"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016020", "name": "Frontal encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["anterior encephalocele"], "xref": ["GARD:0018753", "ICD10CM:Q01.0", "MEDGEN:98460", "Orphanet:1931", "SCTID:253103006", "UMLS:C0431289", "icd11.foundation:1375023725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016024", "name": "Shoulder and thorax deformity-congenital heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0004859", "Orphanet:1940"]}
{"category": ["biolink:Disease"], "description": "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.", "id": "MONDO:0016026", "name": "Infant epilepsy with migrant focal crisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002995", "MEDGEN:1390817", "Orphanet:1943", "SCTID:724274009", "UMLS:C4510564"]}
{"category": ["biolink:Disease"], "description": "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.", "id": "MONDO:0016027", "name": "Benign neonatal seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BFNS", "benign familal neonatal seizures", "benign familial convulsion", "benign familial convulsions", "benign familial neonatal convulsions", "benign familial neonatal epilepsy", "benign familial neonatal seizures", "seizures, benign familial neonatal"], "xref": ["DOID:14264", "DOID:14777", "GARD:0001519", "MEDGEN:65082", "MedDRA:10067866", "NCIT:C117307", "OMIMPS:121200", "Orphanet:1949", "SCTID:279953009", "SCTID:38281008", "UMLS:C0220669"]}
{"category": ["biolink:Disease"], "description": "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.", "id": "MONDO:0016028", "name": "Erythromelalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "xref": ["DOID:9240", "ICD10CM:I73.81", "ICD9:443.82", "MEDGEN:8687", "MESH:D004916", "MedDRA:10015284", "NCIT:C34593", "Orphanet:1956", "SCTID:37151006", "UMLS:C0014804", "icd11.foundation:838760425"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.", "id": "MONDO:0016029", "name": "Esthesioneuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002197", "MEDGEN:60217", "Orphanet:1957", "SCTID:422886007", "UMLS:C0206717"]}
{"category": ["biolink:Disease"], "description": "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.", "id": "MONDO:0016030", "name": "Evans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Evans' syndrome", "autoimmune hemolytic anaemia and autoimmune thrombocytopenia", "autoimmune hemolytic anemia and autoimmune thrombocytopenia", "immune pancytopenia"], "xref": ["DOID:8931", "GARD:0006389", "ICD10CM:D69.41", "ICD9:287.32", "MEDGEN:75773", "MESH:C536380", "MedDRA:10053873", "NANDO:1200310", "NCIT:C61284", "NORD:1112", "Orphanet:1959", "SCTID:75331009", "UMLS:C0272126", "icd11.foundation:1048228553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016031", "name": "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Friedman-Goodman syndrome", "faces syndrome"], "xref": ["GARD:0002221", "MEDGEN:419355", "MESH:C536384", "Orphanet:1969", "UMLS:C2931183"]}
{"category": ["biolink:Disease"], "description": "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.", "id": "MONDO:0016032", "name": "Femoral agenesis/hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital short femur", "femoral intercalary meromelia"], "xref": ["GARD:0001503", "ICD9:755.34", "MEDGEN:87499", "Orphanet:1987", "SCTID:93255008", "UMLS:C0345375", "icd11.foundation:662157487"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.", "id": "MONDO:0016033", "name": "Cornelia de lange syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Brachmann-de Lange syndrome", "Cornelia de Lange syndrome"], "xref": ["DOID:11725", "GARD:0010109", "MEDGEN:78752", "MedDRA:10056354", "NANDO:1200960", "NANDO:2200958", "NCIT:C75016", "NORD:1009", "OMIMPS:122470", "Orphanet:199", "UMLS:C0270972", "icd11.foundation:1801560012"]}
{"category": ["biolink:Disease"], "description": "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.", "id": "MONDO:0016035", "name": "Nelson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nelson's syndrome"], "xref": ["DOID:4968", "GARD:0007170", "ICD10CM:E24.1", "MEDGEN:342174", "MESH:C531754", "MESH:D009347", "MedDRA:10028913", "NCIT:C84917", "NORD:1492", "Orphanet:199244", "SCTID:43019009", "UMLS:C1852159", "icd11.foundation:1945677910"]}
{"category": ["biolink:Disease"], "description": "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.", "id": "MONDO:0016037", "name": "Superficial fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["superficial Fibromatosis"], "xref": ["EFO:1000556", "ICD9:729.99", "MEDGEN:140804", "NCIT:C6814", "Orphanet:199257", "SCTID:238853007", "UMLS:C0406571"]}
{"category": ["biolink:Disease"], "description": "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.", "id": "MONDO:0016038", "name": "Calcified aponeurotic fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Juvenile aponeurotic fibroma", "Juvenile aponeurotic fibrosis", "Keasby tumor", "Keasby tumour", "juvenile aponeurotic fibromatosis"], "xref": ["GARD:0020329", "MEDGEN:107818", "NCIT:C4818", "Orphanet:199260", "SCTID:703614006", "UMLS:C0553647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016039", "name": "Infantile digital fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Reye tumor", "Reye tumour", "Reye's tumor", "Reye's tumour", "digital fibrous tumor of Reye", "digital fibrous tumour of Reye", "inclusion body fibromatosis", "inclusion body fibromatosis (disease)", "infantile digital fibroma/fibromatosis", "infantile digital fibromatosis", "recurring digital fibrous tumor of childhood", "recurring digital fibrous tumour of childhood"], "xref": ["GARD:0008487", "HP:0025197", "ICD9:238.8", "MEDGEN:232929", "NCIT:C3456", "Orphanet:199267", "SCTID:399903008", "UMLS:C1318562", "icd11.foundation:246280296"]}
{"category": ["biolink:Disease"], "description": "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.", "id": "MONDO:0016040", "name": "Harlequin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["progressive isolated segmental anhidrosis"], "xref": ["GARD:0008610", "ICD9:705.89", "MEDGEN:384475", "MESH:C535634", "Orphanet:199282", "SCTID:14070001000004105", "UMLS:C2029348"]}
{"category": ["biolink:Disease"], "description": "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.", "id": "MONDO:0016041", "name": "Congenital microgastria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020330", "ICD9:750.7", "MEDGEN:82732", "Orphanet:199293", "SCTID:83714006", "UMLS:C0266150", "icd11.foundation:1695007532"]}
{"category": ["biolink:Disease"], "description": "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.", "id": "MONDO:0016042", "name": "Late-onset isolated acth deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020331", "MEDGEN:1651973", "Orphanet:199299", "UMLS:C4751433", "icd11.foundation:1651831896"]}
{"category": ["biolink:Disease"], "description": "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.", "id": "MONDO:0016043", "name": "Isolated cleft lip", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated cleft lip (disease)", "nonsyndromic cleft lip (disease)"], "xref": ["GARD:0017091", "MEDGEN:40327", "MedDRA:10009259", "Orphanet:199302", "UMLS:C0008924", "icd11.foundation:172183323"]}
{"category": ["biolink:Disease"], "description": "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.", "id": "MONDO:0016044", "name": "Cleft lip/palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FLP", "alveolar cleft lip and palate", "cleft lip and palate", "cleft lip-alveolus-palate syndrome"], "xref": ["GARD:0017092", "ICD10CM:Q35-Q37", "ICD9:749.20", "ICD9:749.25", "MEDGEN:57640", "MedDRA:10009260", "Orphanet:199306", "SCTID:66948001", "UMLS:C0158646"]}
{"category": ["biolink:Disease"], "description": "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.", "id": "MONDO:0016045", "name": "Tetragametic chimerism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XX/46,XY chimerism"], "xref": ["GARD:0020332", "MEDGEN:609542", "Orphanet:199310", "UMLS:C0432480"]}
{"category": ["biolink:Disease"], "description": "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.", "id": "MONDO:0016046", "name": "Familial clubfoot with or without associated lower limb anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017093", "MEDGEN:1843133", "Orphanet:199315", "UMLS:C5680522"]}
{"category": ["biolink:Disease"], "description": "An infectious process affecting the internal structures of the eye.", "id": "MONDO:0016047", "name": "Endophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4692", "GARD:0020333", "ICD9:360.19", "MEDGEN:8633", "MESH:D009877", "MedDRA:10014801", "NCIT:C34586", "Orphanet:199323", "SCTID:1847009", "UMLS:C0014236", "icd11.foundation:1211141166"]}
{"category": ["biolink:Disease"], "description": "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.", "id": "MONDO:0016048", "name": "Isolated autosomal dominant hypomagnesemia, glaudemans type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020334", "MEDGEN:930824", "Orphanet:199326", "SCTID:722008003", "UMLS:C4305155"]}
{"category": ["biolink:Disease"], "description": "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.", "id": "MONDO:0016049", "name": "Congenital myopathy, paradas type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020335", "MEDGEN:1388555", "Orphanet:199329", "UMLS:C4511057"]}
{"category": ["biolink:Disease"], "description": "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.", "id": "MONDO:0016051", "name": "Cleft lip-retinopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ausems-Wittebol Post-Hennekam syndrome", "cleft lip-cone rod dystrophy syndrome", "cleft lip-progressive retinopathy syndrome"], "xref": ["GARD:0000435", "MEDGEN:419494", "MESH:C538272", "Orphanet:1995", "UMLS:C2931789"]}
{"category": ["biolink:Disease"], "description": "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '", "id": "MONDO:0016052", "name": "Atypical autism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060042", "GARD:0020336", "ICD9:299.80", "MEDGEN:572882", "MedDRA:10003747", "Orphanet:199627", "SCTID:231536004", "UMLS:C0338986", "icd11.foundation:2136163538"]}
{"category": ["biolink:Disease"], "description": "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.", "id": "MONDO:0016053", "name": "Isolated cerebellar vermis hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020337", "MEDGEN:1638500", "Orphanet:199630", "SCTID:766709000", "UMLS:C4707794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016056", "name": "Isolated congenital microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["microcephaly, primary"], "xref": ["DOID:0070297", "GARD:0003603", "MEDGEN:44422", "MedDRA:10027534", "Orphanet:199642", "UMLS:C0025958"]}
{"category": ["biolink:Disease"], "description": "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.", "id": "MONDO:0016057", "name": "Isolated encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0006333", "MEDGEN:1830107", "MedDRA:10014617", "NORD:1089", "Orphanet:199647", "UMLS:C5680519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016058", "name": "Paroxysmal dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020340", "ICD9:333.99", "MEDGEN:97951", "Orphanet:200037", "SCTID:230310003", "UMLS:C0393588", "icd11.foundation:2047715743"]}
{"category": ["biolink:Disease"], "description": "Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.", "id": "MONDO:0016059", "name": "Cleft lip/palate-deafness-sacral lipoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lowry-Yong syndrome"], "xref": ["GARD:0018755", "MEDGEN:905203", "Orphanet:2003", "SCTID:716007007", "UMLS:C4274888"]}
{"category": ["biolink:Disease"], "description": "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.", "id": "MONDO:0016060", "name": "Laryngotracheoesophageal cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LC", "LTEC", "Larnygeotracheoesophageal cleft", "congenital cleft larynx", "laryngeal cleft", "laryngo-tracheo-esophageal cleft", "laryngo-tracheo-esophageal diastema", "tracheal cleft"], "xref": ["GARD:0003188", "MESH:C537875", "NCIT:C98622", "Orphanet:2004", "SCTID:232461002", "icd11.foundation:271795917"]}
{"category": ["biolink:Disease"], "description": "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.", "id": "MONDO:0016062", "name": "Median cleft lip/mandibule", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["median cleft lower facial stage"], "xref": ["GARD:0018756", "MEDGEN:1389145", "Orphanet:2006", "SCTID:723383005", "UMLS:C4518460"]}
{"category": ["biolink:Disease"], "description": "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.", "id": "MONDO:0016063", "name": "Cowden disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Cowden disease", "Cowden syndrome", "Cowden's disease", "multiple hamartoma syndrome"], "xref": ["DOID:6457", "GARD:0006202", "MEDGEN:5420", "MESH:D006223", "MedDRA:10051906", "NANDO:2200918", "NCIT:C3076", "OMIMPS:158350", "Orphanet:201", "SCTID:58037000", "UMLS:C0018553"]}
{"category": ["biolink:Disease"], "description": "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.", "id": "MONDO:0016064", "name": "Cleft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["palatoschisis", "uranostaphyloschisis"], "xref": ["DOID:674", "ICD10CM:Q35", "ICD10WHO:Q35", "ICD9:749.0", "ICD9:749.00", "MEDGEN:756015", "MESH:D002972", "MedDRA:10009269", "NCIT:C87069", "Orphanet:2014", "SCTID:63567004", "UMLS:C2981150", "icd11.foundation:2129534948"]}
{"category": ["biolink:Disease"], "description": "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.", "id": "MONDO:0016065", "name": "Cleft palate-short stature-vertebral anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mathieu-De Broca-Bony syndrome"], "xref": ["GARD:0001392", "MEDGEN:930373", "Orphanet:2015", "SCTID:719466009", "UMLS:C4304704"]}
{"category": ["biolink:Disease"], "description": "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.", "id": "MONDO:0016066", "name": "Sternal cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cleft sternum", "sternum bifidum"], "xref": ["GARD:0005012", "ICD9:756.3", "MEDGEN:419096", "MESH:C537489", "Orphanet:2017", "SCTID:54008006", "UMLS:C2931507", "icd11.foundation:1308914573"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.", "id": "MONDO:0016067", "name": "Crandall syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["alopecia-deafness-hypogonadism syndrome", "alopecia-sensorineural deafness-hypogonadism syndrome"], "xref": ["GARD:0001561", "ICD9:704.8", "MEDGEN:96597", "Orphanet:202", "SCTID:278098005", "UMLS:C0432348"]}
{"category": ["biolink:Disease"], "description": "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.", "id": "MONDO:0016068", "name": "Fibrochondrogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060465", "GARD:0002321", "MEDGEN:82700", "MESH:C562524", "NANDO:2201016", "OMIMPS:228520", "Orphanet:2021", "SCTID:17144009", "UMLS:C0265282", "icd11.foundation:1412541453"]}
{"category": ["biolink:Disease"], "description": "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.", "id": "MONDO:0016070", "name": "Hereditary gingival fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant gingival fibromatosis", "autosomal dominant gingival hyperplasia", "hereditary gingival fibromatosis", "hereditary gingival hyperplasia"], "xref": ["DOID:0060466", "GARD:0016582", "MEDGEN:140775", "OMIMPS:135300", "Orphanet:2024", "SCTID:109620006", "UMLS:C0399440", "icd11.foundation:1911315646"]}
{"category": ["biolink:Disease"], "description": "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.", "id": "MONDO:0016071", "name": "Juvenile hyaline fibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Molluscum fibrosum", "Murray-Puretic-Drescher syndrome", "Puretic syndrome", "mesenchymal dysplasia"], "xref": ["GARD:0016583", "ICD9:733.29", "MEDGEN:411197", "NCIT:C98297", "Orphanet:2028", "SCTID:238861002", "UMLS:C2745948", "icd11.foundation:1890146024"]}
{"category": ["biolink:Disease"], "description": "A microphthalmia that is part of a larger syndrome.", "id": "MONDO:0016073", "name": "Syndromic microphthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["microphthalmia, syndromic", "syndrome associated with microphthalmia", "syndromic microphthalmia"], "xref": ["DOID:0080636", "GARD:0020342", "MEDGEN:1826052", "OMIMPS:309800", "Orphanet:202948", "UMLS:C5679782"]}
{"category": ["biolink:Disease"], "description": "A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.", "id": "MONDO:0016075", "name": "Filariasis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:1080", "GARD:0018757", "ICD10CM:B74", "ICD10WHO:B74", "ICD9:125.9", "MEDGEN:4706", "MESH:D005368", "MedDRA:10016674", "NCIT:C34611", "NORD:1148", "Orphanet:2034", "SCTID:105706003", "UMLS:C0016085", "icd11.foundation:1975325075"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016077", "name": "Congenital aortopulmonary window", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital aortopulmonary artery fistula", "congenital aortopulmonary septal defect"], "xref": ["GARD:0000738", "MEDGEN:419119", "MESH:C537782", "Orphanet:2037", "UMLS:C2931610", "icd11.foundation:1988278118"]}
{"category": ["biolink:Disease"], "description": "A rare, potentially life-threatening, vascular disease characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.", "id": "MONDO:0016078", "name": "Congenital systemic arteriovenous fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018758", "MEDGEN:1679454", "Orphanet:2039", "UMLS:C5191839"]}
{"category": ["biolink:Disease"], "description": "A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.", "id": "MONDO:0016079", "name": "Sporadic creutzfeldt-jakob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["sporadic CJD"], "xref": ["GARD:0006956", "ICD9:046.19", "MEDGEN:377682", "MedDRA:10011384", "NANDO:1200187", "Orphanet:204", "SCTID:713060000", "UMLS:C1852467", "icd11.foundation:1553463690"]}
{"category": ["biolink:Disease"], "description": "A rare congenital respiratory disorder characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.", "id": "MONDO:0016080", "name": "Congenital bronchobiliary fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001475", "MEDGEN:930385", "Orphanet:2040", "SCTID:719452004", "UMLS:C4304716", "icd11.foundation:420429663"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by an abnormal connection between one or more of the coronary arteries and a cardiac chamber or great vessel.", "id": "MONDO:0016081", "name": "Coronary arterial fistulas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Coronaro-cardiac fistula", "coronary arterial malformations"], "xref": ["GARD:0001533", "MEDGEN:488822", "MedDRA:10069441", "NANDO:2200296", "Orphanet:2041", "UMLS:C0265898"]}
{"category": ["biolink:Disease"], "description": "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.", "id": "MONDO:0016083", "name": "Flotch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"], "xref": ["GARD:0002346", "MEDGEN:419074", "MESH:C537065", "Orphanet:2045", "UMLS:C2931411"]}
{"category": ["biolink:Disease"], "description": "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).", "id": "MONDO:0016085", "name": "Cole-carpenter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"], "xref": ["DOID:0060438", "GARD:0001425", "MEDGEN:350614", "MESH:C535963", "NCIT:C130985", "OMIMPS:112240", "Orphanet:2050", "UMLS:C1862178", "icd11.foundation:1458793358"]}
{"category": ["biolink:Disease"], "description": "A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.", "id": "MONDO:0016086", "name": "Osteochondritis of tarsal/metatarsal bone", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kohler disease", "Kohler's disease", "Osteochondrosis of the tarsal bone", "aseptic necrosis of the tarsal bone", "juvenile osteochondrosis of foot", "osteochondritis of tarsal/metatarsal bone"], "xref": ["DOID:11760", "GARD:0006842", "ICD9:732.5", "MEDGEN:510539", "Orphanet:2054", "Orphanet:563991", "SCTID:203392007", "UMLS:C0158444"]}
{"category": ["biolink:Disease"], "description": "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.", "id": "MONDO:0016087", "name": "Progressive non-infectious anterior vertebral fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Copenhagen syndrome"], "xref": ["GARD:0018759", "MEDGEN:930508", "Orphanet:2062", "SCTID:719268008", "UMLS:C4304839"]}
{"category": ["biolink:Disease"], "description": "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.", "id": "MONDO:0016088", "name": "Hypoxanthine-guanine phosphoribosyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HPRT deficiency", "HPRT1 deficiency", "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency"], "xref": ["GARD:0002943", "ICD9:277.6", "MEDGEN:1852368", "NANDO:2200586", "Orphanet:206428", "SCTID:124275001", "UMLS:C5848153", "icd11.foundation:1293396861"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016089", "name": "Infantile krabbe disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Krabbe disease, classic form", "Krabbe disease, early-onset", "early onset Krabbe disease", "early symptomatic Krabbe disease", "early-onset Krabbe disease", "infantile onset Krabbe disease", "infantile-onset Krabbe disease"], "xref": ["GARD:0020343", "MEDGEN:148270", "NANDO:1200075", "NANDO:2201216", "Orphanet:206436", "SCTID:238030005", "UMLS:C0751273", "icd11.foundation:999546344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016090", "name": "Late-infantile/juvenile krabbe disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Krabbe disease, late-onset"], "xref": ["GARD:0020344", "Orphanet:206443", "SCTID:41142009"]}
{"category": ["biolink:Disease"], "description": "A Krabbe disease that occurs in an adult.", "id": "MONDO:0016091", "name": "Adult krabbe disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Krabbe disease of adults"], "xref": ["GARD:0020345", "MEDGEN:120623", "NANDO:1200077", "NANDO:2201219", "Orphanet:206448", "UMLS:C0268252", "icd11.foundation:699668826"]}
{"category": ["biolink:Disease"], "description": "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.", "id": "MONDO:0016092", "name": "Serous or mucinous cystadenoma of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020346", "MEDGEN:1803886", "Orphanet:206470", "UMLS:C5679785"]}
{"category": ["biolink:Disease"], "description": "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.", "id": "MONDO:0016093", "name": "Borderline epithelial tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["borderline epithelial neoplasm of ovary", "borderline epithelial neoplasm of the ovary", "borderline epithelial tumor of ovary", "borderline epithelial tumor of the ovary", "borderline epithelial tumour of the ovary", "borderline ovarian epithelial neoplasm", "borderline ovarian epithelial tumor", "borderline ovarian epithelial tumour", "borderline ovarian surface epithelial-stromal tumor", "borderline ovarian surface epithelial-stromal tumour", "epithelial neoplasm of ovary of borderline malignancy", "epithelial neoplasm of the ovary of borderline malignancy", "epithelial ovarian neoplasm of borderline malignancy", "epithelial ovarian tumor of borderline malignancy", "epithelial ovarian tumour of borderline malignancy", "epithelial tumor of ovary of borderline malignancy", "epithelial tumor of the ovary of borderline malignancy", "epithelial tumour of ovary of borderline malignancy", "epithelial tumour of the ovary of borderline malignancy", "low malignant potential ovarian tumor", "low malignant potential ovarian tumour", "ovarian borderline malignant tumor", "ovarian borderline malignant tumour", "ovarian low malignant potential tumor", "ovarian low malignant potential tumour", "ovarian tum. of low malig. poten.", "ovarian tumor of low malignant potential", "ovarian tumors of low malignant potential", "ovarian tumour of low malignant potential", "ovarian tumours of low malignant potential"], "xref": ["EFO:1000140", "GARD:0009363", "MEDGEN:777110", "NCIT:C4783", "Orphanet:206473", "SCTID:764791008", "UMLS:C3665489"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that involves the vagina.", "id": "MONDO:0016094", "name": "Vaginal germ cell malignant tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["vagina malignant germ cell tumor", "vagina malignant germ cell tumour", "vaginal germ cell cancer"], "xref": ["GARD:0020347", "MEDGEN:1670250", "Orphanet:206489", "UMLS:C4749402"]}
{"category": ["biolink:Disease"], "description": "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.", "id": "MONDO:0016095", "name": "Vaginal rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["rhabdomyosarcoma (disease) of vagina", "vagina rhabdomyosarcoma", "vagina rhabdomyosarcoma (disease)", "vaginal rhabdomyosarcoma"], "xref": ["GARD:0020348", "MEDGEN:925567", "NCIT:C128080", "Orphanet:206492", "SCTID:766759009", "UMLS:C4288035"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor other than dysgerminoma that arises from the ovary.", "id": "MONDO:0016096", "name": "Malignant non-dysgerminomatous germ cell tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["non-dysgerminomatous germ cell cancer of ovary", "ovarian Nondysgerminomatous germ cell tumor", "ovarian Nondysgerminomatous germ cell tumour", "ovarian non-dysgerminomatous germ cell tumor", "ovarian non-dysgerminomatous germ cell tumour"], "xref": ["GARD:0020349", "MEDGEN:1826164", "NCIT:C102870", "Orphanet:206538", "UMLS:C5679783"]}
{"category": ["biolink:Disease"], "description": "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.", "id": "MONDO:0016097", "name": "Symptomatic form of muscular dystrophy of duchenne and becker in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020350", "MEDGEN:1631985", "Orphanet:206546", "SCTID:765197008", "UMLS:C4707359"]}
{"category": ["biolink:Disease"], "description": "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.", "id": "MONDO:0016098", "name": "Immune-mediated necrotizing myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMNM", "NAM", "anti-HMG-CoA myopathy", "anti-SRP myopathy", "autoimmune necrotizing myositis", "immune myopathy with myocyte necrosis"], "xref": ["GARD:0020351", "MEDGEN:899492", "Orphanet:206569", "SCTID:715863001", "UMLS:C3267047"]}
{"category": ["biolink:Disease"], "description": "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.", "id": "MONDO:0016099", "name": "Overlap myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adult-onset overlap myositis", "non-specific myositis"], "xref": ["GARD:0020352", "MEDGEN:1814440", "Orphanet:206572", "UMLS:C5679784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016100", "name": "Rippling muscle disease with myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Rmd-MG", "immune-mediated rippling muscle disease"], "xref": ["GARD:0020353", "MEDGEN:1657345", "Orphanet:206575", "UMLS:C4749335", "icd11.foundation:327350590"]}
{"category": ["biolink:Disease"], "description": "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.", "id": "MONDO:0016101", "name": "Neurolymphomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020354", "MEDGEN:1642312", "MESH:D000077162", "MESH:D008380", "Orphanet:206586", "SCTID:766752000", "UMLS:C4553088", "icd11.foundation:177999927"]}
{"category": ["biolink:Disease"], "description": "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).", "id": "MONDO:0016102", "name": "Subacute inflammatory demyelinating polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SIDP", "subacute inflammatory demyelinating polyradiculoneuropathy"], "xref": ["GARD:0020355", "MEDGEN:629329", "Orphanet:206594", "SCTID:277189006", "UMLS:C0456517", "icd11.foundation:1692167541"]}
{"category": ["biolink:Disease"], "description": "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.", "id": "MONDO:0016103", "name": "Isolated asymptomatic elevation of creatine phosphokinase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_biological_anomaly", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperCKmia", "idiopathic asymptomatic hyperCKemia", "isolated asymptomatic hyperCKemia", "isolated hyperCKemia"], "xref": ["DOID:0111338", "GARD:0020356", "MEDGEN:1668524", "NCIT:C148327", "Orphanet:206599", "UMLS:C4751434"]}
{"category": ["biolink:Disease"], "description": "An instance of skeletal muscle disease that is acquired during the lifetime of the individual.", "id": "MONDO:0016105", "name": "Acquired skeletal muscle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["acquired skeletal muscle disease"], "xref": ["MEDGEN:1842576", "Orphanet:206638", "UMLS:C5680799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016106", "name": "Progressive muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["progressive muscular dystrophy"], "xref": ["GARD:0020360", "MEDGEN:1633060", "Orphanet:206644", "UMLS:C4551827"]}
{"category": ["biolink:Disease"], "description": "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.", "id": "MONDO:0016107", "name": "Myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inherited myotonic dystrophy"], "xref": ["DOID:450", "GARD:0010419", "ICD10CM:G71.11", "ICD9:359.2", "MEDGEN:10239", "MESH:D009223", "MedDRA:10068871", "NANDO:1200495", "NANDO:2200864", "NCIT:C84914", "OMIMPS:160900", "Orphanet:206647", "SCTID:240104008", "UMLS:C0027126", "icd11.foundation:192087511"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of distal myopathy.", "id": "MONDO:0016108", "name": "Autosomal dominant distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["distal myopathy, autosomal dominant"], "xref": ["GARD:0020361", "MEDGEN:1826097", "Orphanet:206650", "UMLS:C5680803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016112", "name": "Hereditary inclusion-body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inclusion myopathy"], "xref": ["GARD:0020364", "MEDGEN:1843174", "Orphanet:206662", "UMLS:C5680794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016113", "name": "Bulbospinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["SBMA", "bulbospinal muscular atrophy", "spinal and bulbal muscular atrophy", "spinal-bulbar muscular atrophy"], "xref": ["GARD:0020365", "MEDGEN:95977", "NANDO:1200001", "Orphanet:206701", "SCTID:230253001", "UMLS:C0393547", "icd11.foundation:1604214898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016120", "name": "Myotonic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020372", "MEDGEN:107510", "MESH:D020967", "MedDRA:10028658", "Orphanet:206970", "UMLS:C0553604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016122", "name": "Periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["periodic paralysis", "periodic paralysis (disease)"], "xref": ["GARD:0020374", "HP:0003768", "ICD10CM:G72.3", "MEDGEN:488958", "MedDRA:10016208", "Orphanet:206976", "UMLS:C1279412", "icd11.foundation:577112387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016126", "name": "Viral myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020377", "ICD9:729.1", "MEDGEN:508472", "MedDRA:10051512", "Orphanet:206991", "SCTID:240105009", "UMLS:C0150005", "icd11.foundation:864399177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016127", "name": "Bacterial myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020378", "MEDGEN:538237", "Orphanet:206994", "SCTID:30330001", "UMLS:C0263979", "icd11.foundation:1277815767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016128", "name": "Parasitic myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020379", "ICD9:728.2", "MEDGEN:538249", "Orphanet:206997", "SCTID:60970005", "UMLS:C0263997", "icd11.foundation:110646208"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.", "id": "MONDO:0016129", "name": "Eosinophilic gastroenteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EGE", "eosinophilic enteritis", "eosinophilic gastroenteritis", "eosinophilic gastroenterocolitis"], "xref": ["DOID:4031", "GARD:0009142", "ICD10CM:K52.81", "ICD9:558.41", "MEDGEN:220382", "MedDRA:10017902", "NANDO:1200457", "NCIT:C35330", "NORD:1097", "Orphanet:2070", "SCTID:359804008", "UMLS:C1262481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016130", "name": "Fungal myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020380", "MEDGEN:592951", "Orphanet:207000", "SCTID:240111007", "UMLS:C0410251", "icd11.foundation:1054267564"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016139", "name": "Qualitative or quantitative protein defects in neuromuscular diseases", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020388", "MEDGEN:1842598", "Orphanet:207049", "UMLS:C5680807"]}
{"category": ["biolink:Disease"], "description": "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.", "id": "MONDO:0016140", "name": "Sarcoglycanopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["qualitative or quantitative defects of sarcoglycan"], "xref": ["GARD:0020389", "MEDGEN:424705", "MESH:D058088", "Orphanet:207052", "UMLS:C2936331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016141", "name": "Qualitative or quantitative defects of alpha-sarcoglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020390", "MEDGEN:1842296", "Orphanet:207060", "UMLS:C5680808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016142", "name": "Qualitative or quantitative defects of beta-sarcoglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["beta-sarcoglycanopathy"], "xref": ["GARD:0020391", "HGNC:10806", "MEDGEN:418943", "MESH:C535435", "Orphanet:207063", "UMLS:C2930900"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016143", "name": "Qualitative or quantitative defects of gamma-sarcoglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020392", "MEDGEN:1842385", "Orphanet:207067", "UMLS:C5680805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016144", "name": "Qualitative or quantitative defects of delta-sarcoglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["delta-sarcoglycanopathy"], "xref": ["GARD:0020393", "MEDGEN:1826098", "Orphanet:207070", "UMLS:C5680806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016145", "name": "Neuromuscular disease caused by qualitative or quantitative defects of dysferlin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dysferlinopathy", "qualitative or quantitative defects of dysferlin"], "xref": ["GARD:0002003", "MEDGEN:419874", "MESH:C537995", "Orphanet:207073", "UMLS:C2931687"]}
{"category": ["biolink:Disease"], "description": "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals", "id": "MONDO:0016146", "name": "Caveolinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["qualitative or quantitative defects of caveolin-3"], "xref": ["GARD:0020394", "MEDGEN:1826055", "Orphanet:207078", "UMLS:C5679790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016147", "name": "Neuromuscular disease caused by qualitative or quantitative defects of dystrophin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dystrophinopathy", "qualitative or quantitative defects of dystrophin"], "xref": ["GARD:0002031", "MEDGEN:1826053", "NANDO:1200487", "Orphanet:207085", "UMLS:C5679787"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016151", "name": "Neuromuscular disease caused by qualitative or quantitative defects of perlecan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["qualitative or quantitative defects of perlecan"], "xref": ["GARD:0020398", "MEDGEN:1842752", "Orphanet:207101", "UMLS:C5680831"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016153", "name": "Neuromuscular disease caused by qualitative or quantitative defects of trim32", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of TRIM32"], "xref": ["GARD:0020400", "MEDGEN:1843261", "Orphanet:207107", "UMLS:C5680829"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016155", "name": "Qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["secondary alpha-dystroglycanopathy", "secondary dystroglycanopathy"], "xref": ["GARD:0020402", "MEDGEN:1842564", "Orphanet:207113", "UMLS:C5679795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016156", "name": "Qualitative or quantitative defects of fkrp", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020403", "MEDGEN:1842706", "Orphanet:207119", "UMLS:C5680827"]}
{"category": ["biolink:Disease"], "description": "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).", "id": "MONDO:0016158", "name": "Narcolepsy-cataplexy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gelineau disease", "Gelineau syndrome", "Gelineau's syndrome", "Gélineau disease", "narcolepsy type 1", "narcolepsy with cataplexy", "narcolepsy-cataplexy syndrome"], "xref": ["GARD:0007162", "ICD10CM:G47.4", "ICD10CM:G47.411", "ICD9:347.0", "MEDGEN:199638", "MedDRA:10028713", "Orphanet:2073", "UMLS:C0751362", "icd11.foundation:1851015159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016159", "name": "Gemignani syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia-amyotrophy-deafness syndrome"], "xref": ["GARD:0002451", "MEDGEN:444093", "MESH:C537678", "Orphanet:2074", "UMLS:C2931587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016160", "name": "X-linked intellectual disability-epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0016584", "MEDGEN:1842841", "Orphanet:2076", "UMLS:C5680771"]}
{"category": ["biolink:Disease"], "description": "Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.", "id": "MONDO:0016161", "name": "Cerebral gigantism-jaw cysts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Cramer-Niederdellmann syndrome"], "xref": ["GARD:0001206", "Orphanet:2081", "SCTID:725418006"]}
{"category": ["biolink:Disease"], "description": "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016162", "name": "Bilateral frontal polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080921", "GARD:0010783", "MEDGEN:1754014", "Orphanet:208444", "UMLS:C5437679", "icd11.foundation:688947844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016163", "name": "Spinocerebellar ataxia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADCA2", "ADCAII", "ATXN7 autosomal dominant cerebellar ataxia type II", "SCA7", "ataxia with pigmentary retinopathy", "autosomal dominant cerebellar ataxia type 2", "autosomal dominant cerebellar ataxia type II", "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7", "cerebellar syndrome-pigmentary maculopathy syndrome", "spinocerebellar ataxia 7", "spinocerebellar ataxia type 7"], "xref": ["DOID:0050958", "GARD:0020405", "MEDGEN:156006", "NCIT:C126562", "OMIM:164500", "Orphanet:208508", "Orphanet:94147", "SCTID:715726000", "UMLS:C0752125"]}
{"category": ["biolink:Disease"], "description": "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.", "id": "MONDO:0016164", "name": "Herpetiform pemphigus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020406", "MEDGEN:1655315", "Orphanet:208524", "UMLS:C4749730"]}
{"category": ["biolink:Disease"], "description": "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0016165", "name": "Hereditary hypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic hypoparathyroidism"], "xref": ["GARD:0020407", "MEDGEN:1842344", "Orphanet:208593", "UMLS:C5680825"]}
{"category": ["biolink:Disease"], "description": "An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0016166", "name": "Hereditary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic hyperparathyroidism"], "xref": ["GARD:0020408", "MEDGEN:1843372", "OMIMPS:145000", "Orphanet:208596", "UMLS:C5680826"]}
{"category": ["biolink:Disease"], "description": "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).", "id": "MONDO:0016167", "name": "Optic pathway glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["glioma of optic tract", "glioma of the optic tract", "glioma of the visual pathway", "glioma of visual pathway", "optic pathway glioma", "optic tract glioma", "visual pathway glioma"], "xref": ["GARD:0004107", "MEDGEN:162950", "NCIT:C8567", "Orphanet:2086", "UMLS:C0796418", "icd11.foundation:1000103370"]}
{"category": ["biolink:Disease"], "description": "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).", "id": "MONDO:0016168", "name": "Cryopyrin-associated periodic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Cryopyrinopathy"], "xref": ["GARD:0010927", "ICD9:759.89", "MEDGEN:412215", "MESH:D056587", "MedDRA:10068850", "NANDO:1200465", "NANDO:2200432", "NCIT:C84657", "Orphanet:208650", "SCTID:430079001", "UMLS:C2316212", "icd11.foundation:2139918612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016171", "name": "Polyradiculoneuropathy associated with igg/iga/igm monoclonal gammopathy without known antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020411", "Orphanet:208981"]}
{"category": ["biolink:Disease"], "description": "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.", "id": "MONDO:0016175", "name": "Cutis laxa", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cutis laxa", "elastolysis"], "xref": ["DOID:3144", "GARD:0006227", "MEDGEN:8206", "MESH:D003483", "MedDRA:10011692", "NCIT:C84663", "NORD:1022", "Orphanet:209", "SCTID:58588007", "UMLS:C0010495", "icd11.foundation:1227401566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016176", "name": "Axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020415", "MEDGEN:1876718", "Orphanet:209004", "UMLS:C6012217"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016184", "name": "Qualitative or quantitative defects of protein o-mannosyltransferase 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of protein O-mannosyltransferase type 1"], "xref": ["GARD:0020423", "MEDGEN:1842612", "Orphanet:209030", "UMLS:C5680849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016185", "name": "Qualitative or quantitative defects of protein o-mannosyltransferase 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of protein O-mannosyltransferase type 2"], "xref": ["GARD:0020424", "MEDGEN:1842845", "Orphanet:209033", "UMLS:C5680852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016186", "name": "Neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of myofibrillar proteins"], "xref": ["GARD:0020425", "MEDGEN:1842566", "Orphanet:209038", "UMLS:C5680851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016187", "name": "Qualitative or quantitative defects of desmin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020426", "MEDGEN:1842905", "Orphanet:209041", "UMLS:C5680839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016188", "name": "Qualitative or quantitative defects of alphab-cristallin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020427", "MEDGEN:1843314", "Orphanet:209044", "UMLS:C5680838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016189", "name": "Qualitative or quantitative defects of filamin c", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of filamin type C"], "xref": ["GARD:0020428", "MEDGEN:1843024", "Orphanet:209047", "UMLS:C5680841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016190", "name": "Qualitative or quantitative defects of protein zasp", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020429", "MEDGEN:1842575", "Orphanet:209050", "UMLS:C5680840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016191", "name": "Neuromuscular disease caused by qualitative or quantitative defects of titin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of titin"], "xref": ["GARD:0020430", "MEDGEN:1843244", "Orphanet:209053", "UMLS:C5680843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016192", "name": "Neuromuscular disease caused by qualitative or quantitative defects of telethonin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of telethonin"], "xref": ["GARD:0020431", "MEDGEN:1842233", "Orphanet:209056", "UMLS:C5680842"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016193", "name": "Neuromuscular disease caused by qualitative or quantitative defects of alpha-actin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of alpha-actin"], "xref": ["GARD:0020432", "MEDGEN:1842305", "Orphanet:209059", "UMLS:C5680845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016194", "name": "Neuromuscular disease caused by qualitative or quantitative defects of nebulin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of nebulin"], "xref": ["GARD:0020433", "MEDGEN:1842429", "Orphanet:209182", "UMLS:C5680844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016195", "name": "Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (myh7)", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"], "xref": ["GARD:0020434", "MEDGEN:1842636", "Orphanet:209185", "UMLS:C5680832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016197", "name": "Neuromuscular disease caused by qualitative or quantitative defects of selenoprotein n1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of selenoprotein N1"], "xref": ["GARD:0020436", "MEDGEN:1842545", "Orphanet:209193", "UMLS:C5680834"]}
{"category": ["biolink:Disease"], "description": "A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy.", "id": "MONDO:0016198", "name": "Neuromuscular disease caused by qualitative or quantitative defects of plectin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["qualitative or quantitative defects of plectin"], "xref": ["GARD:0020437", "MEDGEN:1842345", "Orphanet:209196", "UMLS:C5680835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016199", "name": "Neuromuscular disease caused by qualitative or quantitative defects of protein serca1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of protein SERCA1"], "xref": ["GARD:0020438", "MEDGEN:1843114", "Orphanet:209199", "UMLS:C5680836"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of rhegmatogenous retinal detachment.", "id": "MONDO:0016202", "name": "Autosomal dominant rhegmatogenous retinal detachment", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DRRD", "rhegmatogenous retinal detachment, autosomal dominant"], "xref": ["GARD:0017104", "MEDGEN:322821", "Orphanet:209867", "UMLS:C1836081", "icd11.foundation:1308905567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016203", "name": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020441", "MEDGEN:1653798", "Orphanet:209902", "UMLS:C4751204"]}
{"category": ["biolink:Disease"], "description": "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.", "id": "MONDO:0016204", "name": "Idiopathic copper-associated cirrhosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["non-Wilsonian hepatic copper toxicosis of infancy and childhood"], "xref": ["GARD:0017106", "MEDGEN:907284", "Orphanet:209919", "SCTID:715864007", "UMLS:C4274853", "icd11.foundation:1692504835"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016205", "name": "Irvan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"], "xref": ["GARD:0012868", "MEDGEN:1435227", "Orphanet:209943", "UMLS:C3665812", "icd11.foundation:498393228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016206", "name": "Idiopathic uveal effusion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020442", "MEDGEN:1669541", "Orphanet:209956", "UMLS:C4755300", "icd11.foundation:1481963661"]}
{"category": ["biolink:Disease"], "description": "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.", "id": "MONDO:0016207", "name": "Phacoanaphylactic uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Phacoallergic endophthalmitis", "Phacoantigenic endophthalmitis", "Phako-anaphylactic endophthalmitis", "endophthalmitis phacoanaphylactica", "lens-induced endophthalmitis", "lens-induced uveitis"], "xref": ["GARD:0020443", "MEDGEN:731803", "Orphanet:209959", "SCTID:410494003", "UMLS:C1444621"]}
{"category": ["biolink:Disease"], "description": "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.", "id": "MONDO:0016208", "name": "Solitary rectal ulcer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020444", "MEDGEN:906337", "Orphanet:209964", "SCTID:716685003", "UMLS:C4274343", "icd11.foundation:1677843970"]}
{"category": ["biolink:Disease"], "description": "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.", "id": "MONDO:0016209", "name": "Benign familial nocturnal alternating hemiplegia of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["benign familial nocturnal alternating hemiplegia in childhood"], "xref": ["GARD:0020445", "MEDGEN:1668716", "Orphanet:209973", "UMLS:C4749822", "icd11.foundation:447920235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016210", "name": "Alternating hemiplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020446", "MEDGEN:124456", "Orphanet:209978", "SCTID:404689008", "UMLS:C0278110", "icd11.foundation:774373615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016211", "name": "Non-papillary transitional cell carcinoma of the bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["non-papillary urothelial carcinoma"], "xref": ["GARD:0020447", "Orphanet:209989", "icd11.foundation:1541108245"]}
{"category": ["biolink:Disease"], "description": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.", "id": "MONDO:0016213", "name": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020448", "MEDGEN:1654873", "Orphanet:210133", "UMLS:C4751169"]}
{"category": ["biolink:Disease"], "description": "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.", "id": "MONDO:0016214", "name": "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020449", "MEDGEN:1385709", "Orphanet:210136", "UMLS:C4510085"]}
{"category": ["biolink:Disease"], "description": "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.", "id": "MONDO:0016215", "name": "Spastic quadriplegic cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["inherited congenital spastic quadriplegia", "quadriplegic infantile cerebral palsy", "spastic quadriplegia", "spastic quadriplegic cerebral palsy", "spastic tetraplegia cerebral palsy", "tetraplegic infantile cerebral palsy"], "xref": ["DOID:10970", "GARD:0017109", "ICD10CM:G80.0", "ICD9:343.2", "ICD9:344.09", "MEDGEN:98433", "NCIT:C116904", "OMIMPS:603513", "OMIMPS:612900", "Orphanet:210141", "SCTID:192965001", "UMLS:C0426970", "icd11.foundation:1155284708"]}
{"category": ["biolink:Disease"], "description": "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.", "id": "MONDO:0016216", "name": "Adult hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adult HCC", "adult hepatocellular carcinoma", "adult hepatoma", "adult primary carcinoma of liver cell", "adult primary carcinoma of the liver cell", "adult primary hepatocellular carcinoma", "adult primary hepatoma", "adult primary liver cell carcinoma", "hepatocellular carcinoma of adults"], "xref": ["DOID:0070328", "GARD:0006608", "MEDGEN:124633", "NCIT:C7956", "Orphanet:210159", "UMLS:C0279607"]}
{"category": ["biolink:Disease"], "description": "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.", "id": "MONDO:0016217", "name": "Mal de debarquement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MDD", "MdDS", "disembarkment syndrome", "sickness of disembarkment"], "xref": ["GARD:0006959", "MEDGEN:345629", "MESH:C537840", "MedDRA:10064924", "NORD:1394", "Orphanet:210272", "SCTID:446079007", "UMLS:C1608983", "icd11.foundation:459420954"]}
{"category": ["biolink:Disease"], "description": "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.", "id": "MONDO:0016218", "name": "Guillain-barre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GBS", "Guillain Barre syndrome", "Guillain Barré syndrome", "Guillain-Barre-Strohl syndrome", "Guillain-Barré syndrome", "Guillain-Barré-Strohl syndrome"], "xref": ["DOID:12842", "EFO:0007292", "GARD:0006554", "ICD10CM:G61.0", "MEDGEN:5399", "MESH:D020275", "MedDRA:10018767", "NCIT:C116345", "Orphanet:2103", "SCTID:40956001", "UMLS:C0018378"]}
{"category": ["biolink:Disease"], "description": "Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.", "id": "MONDO:0016219", "name": "Dysmorphism-pectus carinatum-joint laxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Guízar Vázquez-Sánchez-Manzano syndrome", "dysmorphism-pectus carinatum-joint laxity syndrome"], "xref": ["GARD:0018760", "MEDGEN:1385827", "Orphanet:2104", "UMLS:C4518558"]}
{"category": ["biolink:Disease"], "description": "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.", "id": "MONDO:0016220", "name": "Congenital temporomandibular joint ankylosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital trismus"], "xref": ["GARD:0020450", "MEDGEN:1638477", "Orphanet:210576", "SCTID:763215008", "UMLS:C4706319"]}
{"category": ["biolink:Disease"], "description": "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.", "id": "MONDO:0016222", "name": "Spindle cell hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCH", "SCh", "spindle -cell hemangioma", "spindle cell hemangioendothelioma", "spindle cell hemangioma"], "xref": ["DOID:496", "GARD:0020452", "ICDO:9136/0", "ICDO:9136/1", "MEDGEN:224916", "NCIT:C4754", "Orphanet:210584", "SCTID:403967000", "UMLS:C1304508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016223", "name": "Infantile hemangioma of rare localization", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020453", "MEDGEN:825458", "Orphanet:210589", "SCTID:703270004", "UMLS:C3839613"]}
{"category": ["biolink:Disease"], "description": "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)", "id": "MONDO:0016225", "name": "Specific learning disability", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["specific learning difficulty", "specific learning disorder"], "xref": ["MEDGEN:871302", "MESH:D000067559", "Orphanet:211047", "UMLS:C4025790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016226", "name": "Specific language disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dysphasia", "specific language disorder"], "xref": ["MEDGEN:1631585", "MESH:D000080888", "Orphanet:211053", "UMLS:C4553954"]}
{"category": ["biolink:Disease"], "description": "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.", "id": "MONDO:0016227", "name": "Hereditary episodic ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["episodic ataxia"], "xref": ["DOID:963", "GARD:0020457", "MEDGEN:314033", "OMIMPS:160120", "Orphanet:211062", "SCTID:421455009", "UMLS:C1720189", "icd11.foundation:423095680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016231", "name": "Capillary malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["MEDGEN:90955", "Orphanet:211247", "SCTID:234118009", "UMLS:C0340803"]}
{"category": ["biolink:Disease"], "description": "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.", "id": "MONDO:0016236", "name": "Kaposiform hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaposiform hemangioendothelioma"], "xref": ["GARD:0003077", "MEDGEN:234548", "MESH:C537007", "NCIT:C27510", "Orphanet:2122", "SCTID:403983000", "UMLS:C1367420"]}
{"category": ["biolink:Disease"], "description": "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.", "id": "MONDO:0016237", "name": "Diffuse neonatal hemangiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001861", "MEDGEN:96888", "Orphanet:2123", "SCTID:254782003", "UMLS:C0474965"]}
{"category": ["biolink:Disease"], "description": "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).", "id": "MONDO:0016238", "name": "Solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SFT", "localised fibrous mesothelioma", "localised fibrous tumour", "localized fibrous mesothelioma", "localized fibrous tumor", "solitary fibrous tumor", "submesothelial fibroma"], "xref": ["GARD:0015014", "ICD9:238.1", "ICDO:8815/0", "ICDO:8815/1", "ICDO:9051/0", "MEDGEN:224764", "MESH:D054364", "MedDRA:10018825", "NCIT:C7634", "ONCOTREE:SFT", "Orphanet:2126", "UMLS:C1266119"]}
{"category": ["biolink:Disease"], "description": "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.", "id": "MONDO:0016239", "name": "Cystinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Protein defect of cystin transport", "cystine storage disease", "cystinosis"], "xref": ["DOID:1064", "GARD:0006236", "ICD10CM:E72.04", "MEDGEN:1384792", "MESH:D003554", "MedDRA:10011777", "NANDO:1200161", "NANDO:2200571", "NCIT:C2976", "NORD:1028", "Orphanet:213", "SCTID:190681003", "UMLS:C4316899", "icd11.foundation:733715856"]}
{"category": ["biolink:Disease"], "description": "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.", "id": "MONDO:0016240", "name": "Hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["longitudinal meromelia"], "xref": ["GARD:0018761", "MEDGEN:9194", "MedDRA:10019464", "NCIT:C34674", "Orphanet:2130", "SCTID:33076008", "UMLS:C0018987"]}
{"category": ["biolink:Disease"], "description": "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.", "id": "MONDO:0016241", "name": "Alternating hemiplegia of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHC", "adrenal hypoplasia congenita", "alternating hemiplegia of childhood", "childhood alternating hemiplegia", "congenital adrenal Hypoplasia", "congenital adrenal gland hypoplasia", "paediatric alternating hemiplegia", "pediatric alternating hemiplegia"], "xref": ["DOID:0050635", "GARD:0000011", "MEDGEN:90925", "MESH:C536589", "NANDO:1200403", "NANDO:1200525", "NANDO:2100239", "NANDO:2200357", "NANDO:2200883", "NCIT:C35261", "NORD:758", "OMIMPS:104290", "Orphanet:2131", "SCTID:230466004", "UMLS:C0338488", "icd11.foundation:301329822"]}
{"category": ["biolink:Disease"], "description": "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).", "id": "MONDO:0016242", "name": "Hemoglobin c disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2859", "GARD:0027866", "ICD9:282.7", "MEDGEN:6789", "MESH:C531699", "MESH:D006445", "MedDRA:10018883", "NANDO:2200635", "NCIT:C34675", "Orphanet:2132", "SCTID:51053007", "UMLS:C0019021"]}
{"category": ["biolink:Disease"], "description": "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.", "id": "MONDO:0016243", "name": "Hemoglobin e disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemoglobin E disease"], "xref": ["DOID:5379", "GARD:0002641", "ICD9:282.7", "MEDGEN:68658", "MedDRA:10053215", "NCIT:C35287", "Orphanet:2133", "SCTID:25065001", "UMLS:C0238159", "icd11.foundation:1898135714"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.", "id": "MONDO:0016244", "name": "Atypical hemolytic-uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Atypical Hemolytic Uremic Syndrome", "D-HUS", "aHUS", "atypical HUS", "atypical hemolytic uremic syndrome", "hemolytic-uremic syndrome without diarrhea", "hemolytic-uremic syndrome without diarrhoea", "non-diarrhea-associated hemolytic uremic syndrome"], "xref": ["DOID:0080301", "GARD:0008702", "MEDGEN:444141", "MESH:D065766", "NANDO:1200473", "NANDO:1200474", "NANDO:2200131", "NANDO:2200641", "NCIT:C123223", "NORD:822", "Orphanet:2134", "UMLS:C2931788"]}
{"category": ["biolink:Disease"], "description": "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0016248", "name": "Familial ovarian cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["familial ovarian cancer", "familial ovarian malignant tumor", "familial ovarian malignant tumour", "hereditary ovarian cancer"], "xref": ["GARD:0020467", "MEDGEN:1803368", "Orphanet:213517", "UMLS:C5679802", "icd11.foundation:1484739866"]}
{"category": ["biolink:Disease"], "description": "Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.", "id": "MONDO:0016249", "name": "Hereditary site-specific ovarian cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020468", "Orphanet:213524", "icd11.foundation:123305976"]}
{"category": ["biolink:Disease"], "description": "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.", "id": "MONDO:0016255", "name": "Uterine corpus mixed epithelial and mesenchymal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["body of uterus mixed neoplasm", "uterine corpus mixed epithelial and mesenchymal neoplasm", "uterine corpus mixed epithelial and mesenchymal tumor", "uterine corpus mixed epithelial and mesenchymal tumour"], "xref": ["GARD:0020472", "MEDGEN:311425", "NCIT:C40181", "Orphanet:213589", "UMLS:C1519858"]}
{"category": ["biolink:Disease"], "description": "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.", "id": "MONDO:0016256", "name": "Hennekam syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hennekam lymphangiectasia lymphedema syndrome", "Hennekam lymphangiectasia-lymphedema syndrome", "lymphedema-lymphangiectasia-intellectual disability syndrome"], "xref": ["DOID:0060366", "GARD:0003318", "ICD9:457.1", "MEDGEN:137946", "OMIMPS:235510", "Orphanet:2136", "SCTID:234146006", "UMLS:C0340834", "icd11.foundation:162216708"]}
{"category": ["biolink:Disease"], "description": "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.", "id": "MONDO:0016258", "name": "Uterine corpus carcinofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["uterine corpus Carcinofibroma"], "xref": ["GARD:0020474", "ICDO:8934/3", "MEDGEN:364874", "NCIT:C40182", "Orphanet:213605", "UMLS:C1883485"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.", "id": "MONDO:0016259", "name": "Carcinosarcoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["body of uterus carcinosarcoma", "carcinosarcoma of corpus uteri", "carcinosarcoma of the corpus uteri", "carcinosarcoma of the uterine body", "carcinosarcoma of the uterine corpus", "carcinosarcoma of uterine body", "carcinosarcoma of uterine corpus", "carcinosarcoma of uterus", "corpus uteri malignant mixed mesodermal tumor", "corpus uteri malignant mixed mesodermal tumour", "malignant mixed Mullerian tumor of the corpus uteri", "malignant mixed Mullerian tumour of the corpus uteri", "malignant mixed Müllerian tumor of the corpus uteri", "malignant mixed Müllerian tumour of the corpus uteri", "malignant mixed mesodermal neoplasm of the uterine body", "malignant mixed mesodermal neoplasm of the uterine corpus", "malignant mixed mesodermal neoplasm of the uterus", "malignant mixed mesodermal neoplasm of uterine body", "malignant mixed mesodermal neoplasm of uterine corpus", "malignant mixed mesodermal neoplasm of uterus", "malignant mixed mesodermal tumor of the uterine body", "malignant mixed mesodermal tumor of the uterine corpus", "malignant mixed mesodermal tumor of the uterus", "malignant mixed mesodermal tumor of uterine body", "malignant mixed mesodermal tumor of uterine corpus", "malignant mixed mesodermal tumor of uterus", "malignant mixed mesodermal tumour of the uterine body", "malignant mixed mesodermal tumour of the uterine corpus", "malignant mixed mesodermal tumour of the uterus", "malignant mixed mesodermal tumour of uterine body", "malignant mixed mesodermal tumour of uterine corpus", "malignant mixed mesodermal tumour of uterus", "mixed Mullerian cancer of corpus uteri", "mixed Mullerian sarcoma of the uterus", "mixed Mullerian sarcoma of uterus", "mixed Müllerian cancer of corpus uteri", "mixed Müllerian sarcoma of the uterus", "mixed Müllerian sarcoma of uterus", "uterine body carcinosarcoma", "uterine body malignant mixed mesodermal neoplasm", "uterine body malignant mixed mesodermal tumor", "uterine body malignant mixed mesodermal tumour", "uterine corpus carcinosarcoma", "uterine corpus malignant mixed Mullerian neoplasm", "uterine corpus malignant mixed Mullerian tumor", "uterine corpus malignant mixed Mullerian tumour", "uterine corpus malignant mixed Müllerian neoplasm", "uterine corpus malignant mixed Müllerian tumor", "uterine corpus malignant mixed Müllerian tumour", "uterine corpus malignant mixed mesodermal (Mullerian) tumor", "uterine corpus malignant mixed mesodermal (Mullerian) tumour", "uterine corpus malignant mixed mesodermal (Müllerian) tumor", "uterine corpus malignant mixed mesodermal (Müllerian) tumour", "uterine corpus malignant mixed mesodermal neoplasm", "uterine corpus malignant mixed mesodermal tumor", "uterine corpus malignant mixed mesodermal tumour", "uterine malignant mixed mesodermal neoplasm", "uterine malignant mixed mesodermal tumor", "uterine malignant mixed mesodermal tumour", "uterine mixed Mullerian sarcoma", "uterine mixed Müllerian sarcoma"], "xref": ["GARD:0012335", "MEDGEN:316458", "NCIT:C9180", "Orphanet:213610", "UMLS:C1704376"]}
{"category": ["biolink:Disease"], "description": "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.", "id": "MONDO:0016260", "name": "Uterine corpus rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["body of uterus rhabdomyosarcoma", "body of uterus rhabdomyosarcoma (disease)", "rhabdomyosarcoma (disease) of body of uterus", "uterine corpus rhabdomyosarcoma"], "xref": ["GARD:0020475", "MEDGEN:925579", "NCIT:C127058", "Orphanet:213615", "UMLS:C4288047"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.", "id": "MONDO:0016262", "name": "Leiomyosarcoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Uterine Leiomyosarcoma", "body of uterus leiomyosarcoma", "corpus uteri leiomyosarcoma", "leiomyosarcoma - uterus", "leiomyosarcoma of body of uterus", "leiomyosarcoma of corpus uteri", "leiomyosarcoma of the body of uterus", "leiomyosarcoma of the corpus uteri", "leiomyosarcoma of the uterine body", "leiomyosarcoma of the uterine corpus", "leiomyosarcoma of the uterus", "leiomyosarcoma of uterine body", "leiomyosarcoma of uterine corpus", "leiomyosarcoma of uterus", "uterine body leiomyosarcoma", "uterine corpus leiomyosarcoma"], "xref": ["DOID:5289", "EFO:1001974", "GARD:0020477", "MEDGEN:83679", "NCIT:C6340", "NORD:1817", "ONCOTREE:ULMS", "Orphanet:213625", "SCTID:447389009", "UMLS:C0280631"]}
{"category": ["biolink:Disease"], "description": "A primitive neuroectodermal tumor that involves the body of uterus.", "id": "MONDO:0016263", "name": "Primitive neuroectodermal tumor of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus primitive neuroectodermal tumor", "body of uterus primitive neuroectodermal tumour", "malignant peripheral neuroectodermal tumor of the corpus uteri", "malignant peripheral neuroectodermal tumour of the corpus uteri", "peripheral neuroectodermal cancer of the corpus uteri", "primitive neuroectodermal tumor of body of uterus", "primitive neuroectodermal tumour of body of uterus"], "xref": ["GARD:0020478", "MEDGEN:1640822", "Orphanet:213630", "UMLS:C4707724"]}
{"category": ["biolink:Disease"], "description": "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.", "id": "MONDO:0016264", "name": "Autoimmune hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autoimmune hepatitis"], "xref": ["DOID:2048", "EFO:0005676", "GARD:0005871", "ICD10CM:K75.4", "ICD9:571.42", "MEDGEN:1666753", "MESH:D019693", "MedDRA:10003827", "NANDO:1200441", "NANDO:1200442", "NANDO:2100264", "NCIT:C27029", "NORD:1897", "Orphanet:2137", "SCTID:408335007", "UMLS:C4721555", "icd11.foundation:1235727122"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the body of uterus.", "id": "MONDO:0016266", "name": "Squamous cell carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus squamous cell carcinoma"], "xref": ["GARD:0020479", "MEDGEN:1633992", "Orphanet:213716", "UMLS:C4707099"]}
{"category": ["biolink:Disease"], "description": "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.", "id": "MONDO:0016267", "name": "Undifferentiated carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus undifferentiated carcinoma"], "xref": ["GARD:0020480", "ICD10CM:C54.9", "MEDGEN:1638762", "Orphanet:213721", "UMLS:C4707822"]}
{"category": ["biolink:Disease"], "description": "A papillary carcinoma that involves the body of uterus.", "id": "MONDO:0016268", "name": "Papillary carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus papillary carcinoma", "endometrial capillary carcinoma"], "xref": ["GARD:0020481", "MEDGEN:1805139", "Orphanet:213726", "UMLS:C5679804"]}
{"category": ["biolink:Disease"], "description": "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.", "id": "MONDO:0016269", "name": "High-grade neuroendocrine carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["high-grade neuroendocrine carcinoma of the uterine corpus", "poorly differentiated neuroendocrine carcinoma of the corpus uteri", "poorly differentiated neuroendocrine carcinoma of the endometrium"], "xref": ["GARD:0020482", "MEDGEN:1664315", "Orphanet:213731", "UMLS:C4751234"]}
{"category": ["biolink:Disease"], "description": "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.", "id": "MONDO:0016270", "name": "Low-grade neuroendocrine tumor of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["low-grade neuroendocrine tumor of the uterine corpus", "low-grade neuroendocrine tumour of the uterine corpus", "well-differentiated neuroendocrine neoplasm of the endometrium", "well-differentiated neuroendocrine tumor of the corpus uteri", "well-differentiated neuroendocrine tumor of the endometrium", "well-differentiated neuroendocrine tumour of the corpus uteri", "well-differentiated neuroendocrine tumour of the endometrium"], "xref": ["GARD:0020483", "MEDGEN:1672976", "NCIT:C126773", "Orphanet:213736", "UMLS:C5190779"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the body of uterus.", "id": "MONDO:0016271", "name": "Adenoid cystic carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["body of uterus adenoid cystic carcinoma", "endometrial adenoid cystic carcinoma"], "xref": ["Orphanet:213741", "icd11.foundation:350868040"]}
{"category": ["biolink:Disease"], "description": "A transitional cell carcinoma that involves the body of uterus.", "id": "MONDO:0016272", "name": "Transitional cell carcinoma of the corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus transitional cell carcinoma"], "xref": ["GARD:0020484", "MEDGEN:1676303", "Orphanet:213746", "UMLS:C5191668"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that involves the body of uterus.", "id": "MONDO:0016273", "name": "Malignant germ cell tumor of corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["body of uterus malignant germ cell tumor", "body of uterus malignant germ cell tumour", "germ cell cancer of corpus uteri", "germ cell cancer of the corpus uteri"], "xref": ["GARD:0020485", "MEDGEN:1655229", "Orphanet:213751", "UMLS:C4750753"]}
{"category": ["biolink:Disease"], "description": "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.", "id": "MONDO:0016276", "name": "High-grade neuroendocrine carcinoma of the cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["high-grade neuroendocrine carcinoma of the uterine cervix", "poorly differentiated neuroendocrine carcinoma of the cervix uteri", "poorly differentiated neuroendocrine cervical carcinoma"], "xref": ["GARD:0020489", "MEDGEN:1668378", "NCIT:C128045", "Orphanet:213777", "UMLS:C4751235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016277", "name": "Malignant mixed epithelial and mesenchymal tumor of cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["cervical malignant mixed epithelial and mesenchymal tumor", "cervical malignant mixed epithelial and mesenchymal tumour", "mixed epithelial and mesenchymal cancer of cervix uteri"], "xref": ["GARD:0020490", "MEDGEN:1843195", "NCIT:C40228", "Orphanet:213782", "UMLS:C5679806"]}
{"category": ["biolink:Disease"], "description": "A sarcoma involving a uterine cervix.", "id": "MONDO:0016280", "name": "Sarcoma of cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["cervical malignant mesenchymal tumor", "cervical malignant mesenchymal tumour", "cervical sarcoma", "malignant mesenchymal tumor of cervix uteri", "malignant mesenchymal tumour of cervix uteri", "sarcoma of uterine cervix", "uterine cervix sarcoma"], "xref": ["GARD:0020493", "MEDGEN:1842604", "Orphanet:213797", "UMLS:C5679807"]}
{"category": ["biolink:Disease"], "description": "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.", "id": "MONDO:0016281", "name": "46,xx ovotesticular disorder of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XX ovotesticular DSD", "ovotesticular DSD", "ovotesticular differences of sex development", "ovotesticular disorders of sex development"], "xref": ["GARD:0016585", "MEDGEN:1814438", "MESH:D050090", "NANDO:2200387", "NCIT:C127167", "Orphanet:2138", "SCTID:18978002", "UMLS:C5679613"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.", "id": "MONDO:0016282", "name": "Rhabdomyosarcoma of the cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervical rhabdomyosarcoma", "rhabdomyosarcoma (disease) of uterine cervix", "uterine cervix rhabdomyosarcoma", "uterine cervix rhabdomyosarcoma (disease)"], "xref": ["GARD:0020494", "MEDGEN:927341", "NCIT:C128048", "ONCOTREE:CERMS", "Orphanet:213802", "SCTID:763408003", "UMLS:C4289809"]}
{"category": ["biolink:Disease"], "description": "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.", "id": "MONDO:0016283", "name": "Leiomyosarcoma of the cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervical leiomyosarcoma", "leiomyosarcoma of uterine cervix", "uterine cervix leiomyosarcoma"], "xref": ["GARD:0020495", "MEDGEN:927349", "NCIT:C128047", "ONCOTREE:CELI", "Orphanet:213807", "SCTID:763771009", "UMLS:C4289817"]}
{"category": ["biolink:Disease"], "description": "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.", "id": "MONDO:0016284", "name": "Primitive neuroectodermal tumor of the cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervical malignant peripheral neuroectodermal tumor", "cervical malignant peripheral neuroectodermal tumour", "cervical peripheral neuroectodermal cancer", "malignant peripheral neuroectodermal tumor of the cervix uteri", "malignant peripheral neuroectodermal tumour of the cervix uteri", "peripheral neuroectodermal cancer of cervix uteri"], "xref": ["GARD:0020496", "MEDGEN:1636418", "Orphanet:213812", "UMLS:C4707725"]}
{"category": ["biolink:Disease"], "description": "A papillary carcinoma that involves the uterine cervix.", "id": "MONDO:0016285", "name": "Papillary carcinoma of the cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cervical papillary carcinoma", "uterine cervix papillary carcinoma"], "xref": ["GARD:0020497", "Orphanet:213817"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that involves the uterine cervix.", "id": "MONDO:0016289", "name": "Malignant germ cell tumor of cervix uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cervical germ cell cancer", "cervical malignant germ cell tumor", "cervical malignant germ cell tumour", "germ cell cancer of cervix uteri", "germ cell cancer of the cervix uteri", "uterine cervix malignant germ cell tumor", "uterine cervix malignant germ cell tumour"], "xref": ["GARD:0020501", "MEDGEN:1662294", "Orphanet:213837", "UMLS:C4750752"]}
{"category": ["biolink:Disease"], "description": "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.", "id": "MONDO:0016290", "name": "Hernández-aguirre negrete syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability-epilepsy-bulbous nose syndrome"], "xref": ["GARD:0003491", "MEDGEN:419481", "MESH:C538112", "Orphanet:2139", "SCTID:721146009", "UMLS:C2931736"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0016291", "name": "Craniosynostosis, herrmann-opitz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018762", "MEDGEN:1633959", "Orphanet:2145", "UMLS:C4706536", "icd11.foundation:2048918601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016292", "name": "Nodular neuronal heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["genetic nodular heterotopia", "nodular heterotopia"], "xref": ["GARD:0016586", "MEDGEN:1842941", "Orphanet:2149", "SCTID:253151003", "UMLS:C5680679", "icd11.foundation:143592859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016293", "name": "Congenital stationary night blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital essential nyctalopia", "congenital night blindness", "hereditary night blindness", "night blindness, congenital stationary"], "xref": ["DOID:0050534", "DOID:8498", "GARD:0025068", "ICD9:368.61", "MEDGEN:83289", "MESH:C536122", "OMIMPS:310500", "Orphanet:215", "SCTID:193687000", "SCTID:232061009", "UMLS:C0339535", "icd11.foundation:122338861", "icd11.foundation:587494652"]}
{"category": ["biolink:Disease"], "description": "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.", "id": "MONDO:0016294", "name": "Hirschsprung disease-type d brachydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hirschsprung disease with type d brachydactyly"], "xref": ["GARD:0002700", "MEDGEN:375339", "MESH:C538319", "OMIM:306980", "Orphanet:2150", "UMLS:C1844017"]}
{"category": ["biolink:Disease"], "description": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.", "id": "MONDO:0016295", "name": "Neuronal ceroid lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NCL", "ceroid lipofuscinoses", "neuronal ceroid lipofuscinosis"], "xref": ["DOID:14503", "GARD:0010739", "ICD10CM:E75.4", "MEDGEN:10326", "NANDO:1200150", "NANDO:2200573", "NCIT:C61257", "OMIMPS:256730", "Orphanet:216", "SCTID:42012007", "UMLS:C0027877", "icd11.foundation:1568332253"]}
{"category": ["biolink:Disease"], "description": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.", "id": "MONDO:0016296", "name": "Holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPE", "holoprosencephaly sequence"], "xref": ["DOID:4621", "GARD:0006665", "ICD10CM:Q04.2", "MEDGEN:38214", "MESH:D016142", "MedDRA:10056304", "NANDO:2200819", "NCIT:C74988", "NORD:1247", "OMIMPS:236100", "Orphanet:2162", "SCTID:30915001", "UMLS:C0079541", "icd11.foundation:1712699129"]}
{"category": ["biolink:Disease"], "description": "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.", "id": "MONDO:0016297", "name": "Prelingual non-syndromic genetic hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["prelingual non-syndromic genetic hearing loss"], "xref": ["GARD:0025069", "MEDGEN:1647959", "Orphanet:216445", "SCTID:764098007", "UMLS:C4706679"]}
{"category": ["biolink:Disease"], "description": "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.", "id": "MONDO:0016298", "name": "Postlingual non-syndromic genetic hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025070", "MEDGEN:1641874", "Orphanet:216452", "SCTID:764097002", "UMLS:C4706678"]}
{"category": ["biolink:Disease"], "description": "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).", "id": "MONDO:0016299", "name": "Holoprosencephaly-caudal dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002722", "MEDGEN:1653112", "Orphanet:2165", "UMLS:C4749731"]}
{"category": ["biolink:Disease"], "description": "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.", "id": "MONDO:0016301", "name": "Congenitally corrected transposition of the great arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Double discordance", "L-transposition of the great arteries", "L-transposition of the great vessels", "congenitally corrected transposition of the great vessels", "discordant ventriculoarterial and atrioventricular connections", "levo-transposition of the great arteries", "levo-transposition of the great vessels", "ventricular inversion", "ventriculoarterial and atrioventricular discordance"], "xref": ["GARD:0001544", "ICD9:745.12", "MEDGEN:87489", "MESH:D000080041", "MedDRA:10011120", "NANDO:1200699", "NANDO:1200701", "NANDO:1200703", "NANDO:2100079", "NANDO:2200259", "NCIT:C98902", "Orphanet:216694", "SCTID:83799000", "UMLS:C0344616", "icd11.foundation:254915185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016302", "name": "Isolated congenitally uncorrected transposition of the great arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["isolated congenitally uncorrected transposition of the great vessels"], "xref": ["GARD:0020502", "MEDGEN:1842921", "Orphanet:216718", "UMLS:C5679810"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016303", "name": "Congenitally uncorrected transposition of the great arteries with cardiac malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["TGA with cardiac malformation", "congenitally uncorrected transposition of the great vessels with cardiac malformation"], "xref": ["GARD:0020503", "MEDGEN:1843053", "NANDO:1200701", "Orphanet:216729", "UMLS:C5679811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016304", "name": "Classic pantothenate kinase-associated neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["NBIA1, classic form", "PKAN, classic form", "neurodegeneration with brain iron accumulation type 1, classic form"], "xref": ["GARD:0017114", "MEDGEN:1826057", "NANDO:1200535", "Orphanet:216866", "UMLS:C5679812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016305", "name": "Atypical pantothenate kinase-associated neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["NBIA1, atypical form", "PKAN, atypical form", "neurodegeneration with brain iron accumulation type 1, atypical form"], "xref": ["GARD:0017115", "MEDGEN:1800044", "NANDO:1200536", "Orphanet:216873", "UMLS:C5568621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016306", "name": "Niemann-pick disease type c, severe perinatal form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020504", "MEDGEN:1842349", "Orphanet:216972", "UMLS:C5680866"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016307", "name": "Niemann-pick disease type c, severe early infantile neurologic onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020505", "MEDGEN:1842400", "Orphanet:216975", "UMLS:C5680868", "icd11.foundation:587642791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016308", "name": "Niemann-pick disease type c, late infantile neurologic onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020506", "MEDGEN:1843353", "Orphanet:216978", "UMLS:C5680867", "icd11.foundation:2075382821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016309", "name": "Niemann-pick disease type c, juvenile neurologic onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Niemann-Pick disease type C, classic form"], "xref": ["GARD:0020507", "MEDGEN:1842257", "Orphanet:216981", "UMLS:C5679813", "icd11.foundation:2006062681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016310", "name": "Niemann-pick disease type c, adult neurologic onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020508", "MEDGEN:1826101", "NANDO:1200065", "NANDO:2201209", "Orphanet:216986", "UMLS:C5680869", "icd11.foundation:77127214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016311", "name": "Bockenheimer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["genuine diffuse phlebectasia"], "xref": ["GARD:0013063", "MEDGEN:1843091", "Orphanet:217008", "UMLS:C5679814", "icd11.foundation:1659229633"]}
{"category": ["biolink:Disease"], "description": "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.", "id": "MONDO:0016312", "name": "5-fluorouracil poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["5-fluorouracil intoxication"], "xref": ["MESH:C531667", "Orphanet:217064"]}
{"category": ["biolink:Disease"], "description": "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.", "id": "MONDO:0016315", "name": "Mucopolysaccharidosis type 2, severe form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hunter syndrome type A", "MPS2A", "MPSIIA", "iduronate 2-sulfatase deficiency type A", "mucopolysaccharidosis type 2, severe form", "mucopolysaccharidosis type 2A", "mucopolysaccharidosis type II, severe form", "mucopolysaccharidosis type IIA"], "xref": ["GARD:0017118", "MEDGEN:575246", "NANDO:1200098", "NANDO:2201173", "Orphanet:217085", "SCTID:73146005", "UMLS:C0342841"]}
{"category": ["biolink:Disease"], "description": "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.", "id": "MONDO:0016316", "name": "Mucopolysaccharidosis type 2, attenuated form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hunter syndrome type B", "MPS2B", "MPSIIB", "iduronate 2-sulfatase deficiency type B", "mucopolysaccharidosis type 2, attenuated form", "mucopolysaccharidosis type 2B", "mucopolysaccharidosis type II, attenuated form", "mucopolysaccharidosis type IIB"], "xref": ["GARD:0017119", "MEDGEN:1826165", "NANDO:1200099", "NANDO:2201171", "NANDO:2201172", "Orphanet:217093", "SCTID:5667009", "UMLS:C5679815"]}
{"category": ["biolink:Disease"], "description": "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).", "id": "MONDO:0016318", "name": "Progressive multifocal leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PML", "progressive multifocal leukoencephalitis"], "xref": ["DOID:643", "EFO:0007455", "GARD:0007468", "ICD10CM:A81.2", "ICD9:046.3", "MEDGEN:7327", "MESH:D007968", "MedDRA:10036807", "NANDO:1200205", "NCIT:C26815", "NORD:1616", "Orphanet:217260", "SCTID:22255007", "UMLS:C0023524", "icd11.foundation:902939755"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016319", "name": "Congenital insensitivity to pain with hyperhidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of pain with hyperhidrosis", "congenital analgesia with hyperhidrosis", "congenital indifference to pain with hyperhidrosis", "congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"], "xref": ["GARD:0020514", "MEDGEN:1830087", "Orphanet:217399", "UMLS:C5679817"]}
{"category": ["biolink:Disease"], "description": "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).", "id": "MONDO:0016321", "name": "Pulmonary interstitial glycogenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PIG", "infantile cellular interstitial pneumonitis", "pig"], "xref": ["GARD:0020516", "ICD10CM:J84.842", "MEDGEN:838075", "Orphanet:217557", "SCTID:707551007", "UMLS:C3161106", "icd11.foundation:1386580655"]}
{"category": ["biolink:Disease"], "description": "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.", "id": "MONDO:0016322", "name": "Neuroendocrine cell hyperplasia of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTI", "NCHI", "NEHI", "chronic tachypnoe of infancy"], "xref": ["GARD:0020517", "ICD10CM:J84.841", "MEDGEN:837309", "NCIT:C120169", "Orphanet:217560", "SCTID:707435002", "UMLS:C3161105", "icd11.foundation:1641999159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016323", "name": "Chronic respiratory distress with surfactant metabolism deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017127", "MEDGEN:1679491", "Orphanet:217566", "UMLS:C5190853"]}
{"category": ["biolink:Disease"], "description": "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.", "id": "MONDO:0016330", "name": "Non-familial hypertrophic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["acquired hypertrophic cardiomyopathy"], "xref": ["MEDGEN:1843178", "Orphanet:217598", "UMLS:C5680883"]}
{"category": ["biolink:Disease"], "description": "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.", "id": "MONDO:0016331", "name": "Infantile systemic hyalinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0006807", "MEDGEN:1803732", "OMIM:236490", "Orphanet:2176", "SCTID:238867003", "UMLS:C5574678", "icd11.foundation:2089325724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016332", "name": "Hypertrophic cardiomyopathy due to intensive athletic training", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025071", "Orphanet:217601", "icd11.foundation:183927358"]}
{"category": ["biolink:Disease"], "description": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.", "id": "MONDO:0016333", "name": "Familial dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary dilated cardiomyopathy"], "xref": ["GARD:0020525", "MEDGEN:90951", "MESH:C536231", "OMIMPS:115200", "Orphanet:217607", "UMLS:C0340427", "icd11.foundation:423719003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016338", "name": "Non-familial dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020530", "MEDGEN:1843057", "Orphanet:217629", "UMLS:C5681849", "icd11.foundation:1782708952"]}
{"category": ["biolink:Disease"], "description": "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0016340", "name": "Familial restrictive cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary restrictive cardiomyopathy"], "xref": ["GARD:0020532", "ICD9:425.4", "MEDGEN:468561", "OMIMPS:115210", "Orphanet:217635", "SCTID:233878008", "UMLS:C0340429"]}
{"category": ["biolink:Disease"], "description": "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.", "id": "MONDO:0016342", "name": "Familial isolated arrhythmogenic right ventricular dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial isolated ARVC", "familial isolated ARVD", "familial isolated arrhythmogenic right ventricular cardiomyopathy", "familial isolated arrhythmogenic right ventricular dysplasia", "familial isolated arrhythmogenic ventricular cardiomyopathy", "familial isolated arrhythmogenic ventricular dysplasia"], "xref": ["GARD:0017129", "MEDGEN:901869", "OMIMPS:107970", "Orphanet:217656", "SCTID:715865008", "UMLS:C4274968", "icd11.foundation:460188584"]}
{"category": ["biolink:Disease"], "description": "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.", "id": "MONDO:0016344", "name": "Hydranencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hydranencephaly", "hydranencephaly (disease)"], "xref": ["DOID:4626", "GARD:0006681", "HP:0002324", "MEDGEN:6937", "MESH:D006832", "NCIT:C98949", "NORD:1258", "Orphanet:2177", "SCTID:30023002", "UMLS:C0020225", "icd11.foundation:1963574608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016345", "name": "Non-familial restrictive cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020535", "MEDGEN:1843079", "NANDO:1200294", "Orphanet:217720", "UMLS:C5680885", "icd11.foundation:2097520643"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.", "id": "MONDO:0016346", "name": "Hydrocephalus-obesity-hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Sengers-Hamel-Otten syndrome"], "xref": ["GARD:0002775", "MEDGEN:929145", "Orphanet:2183", "SCTID:721231007", "UMLS:C4303476"]}
{"category": ["biolink:Disease"], "description": "Hydrocephalus that is present at birth.", "id": "MONDO:0016349", "name": "Congenital hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital hydrocephalus"], "xref": ["GARD:0006682", "ICD10CM:Q03", "ICD10WHO:Q03", "MEDGEN:9336", "MedDRA:10010506", "NANDO:2200822", "NCIT:C98876", "OMIMPS:236600", "Orphanet:2185", "SCTID:47032000", "UMLS:C0020256", "icd11.foundation:1878746673"]}
{"category": ["biolink:Disease"], "description": "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.", "id": "MONDO:0016350", "name": "Hydrocephalus-blue sclerae-nephropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Daentl-Townsend-Siegel syndrome", "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome", "hydrocephalus blue sclera nephropathy"], "xref": ["GARD:0000236", "MEDGEN:418960", "MESH:C535768", "Orphanet:2186", "UMLS:C2931014"]}
{"category": ["biolink:Disease"], "description": "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.", "id": "MONDO:0016351", "name": "Anti-hla hyperimmunization", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0000730", "MEDGEN:929703", "Orphanet:2194", "UMLS:C4304034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016353", "name": "Palmoplantar keratoderma-spastic paralysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Powell-Venencie-Gordon syndrome", "palmoplantar hyperkeratosis-spastic paralysis syndrome"], "xref": ["GARD:0003095", "MEDGEN:444152", "MESH:C538358", "Orphanet:2201", "UMLS:C2931828"]}
{"category": ["biolink:Disease"], "description": "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).", "id": "MONDO:0016354", "name": "Xeroderma pigmentosum-cockayne syndrome complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XP/CS complex"], "xref": ["GARD:0017130", "MEDGEN:930080", "NCIT:C156031", "Orphanet:220295", "UMLS:C4304411", "icd11.foundation:2002862606"]}
{"category": ["biolink:Disease"], "description": "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).", "id": "MONDO:0016356", "name": "Diffuse cutaneous systemic sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["dSSc", "diffuse cutaneous systemic scleroderma", "progressive cutaneous systemic scleroderma", "progressive cutaneous systemic sclerosis"], "xref": ["GARD:0009751", "NANDO:1201010", "NCIT:C116791", "Orphanet:220393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016357", "name": "Dysplastic cortical hyperostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0025072", "MEDGEN:1683894", "Orphanet:646139", "UMLS:C5190839", "icd11.foundation:607086753"]}
{"category": ["biolink:Disease"], "description": "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.", "id": "MONDO:0016358", "name": "Limited cutaneous systemic sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["limited cutaneous systemic scleroderma", "limited scleroderma"], "xref": ["DOID:1577", "GARD:0001053", "MEDGEN:148187", "MESH:D045745", "NANDO:1201011", "Orphanet:220402", "SCTID:298285004", "SCTID:299276009", "UMLS:C0748540"]}
{"category": ["biolink:Disease"], "description": "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.", "id": "MONDO:0016359", "name": "Limited systemic sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["SSC without skin involvement", "systemic sclerosis sine scleroderma", "systemic sclerosis without skin involvement"], "xref": ["GARD:0009749", "MEDGEN:220934", "NCIT:C116789", "Orphanet:220407", "SCTID:128461001", "UMLS:C1290138", "icd11.foundation:187455179"]}
{"category": ["biolink:Disease"], "description": "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.", "id": "MONDO:0016360", "name": "Marcothrombocytopenia with mitral valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020538", "MEDGEN:1649052", "Orphanet:220448", "UMLS:C4749648"]}
{"category": ["biolink:Disease"], "description": "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.", "id": "MONDO:0016362", "name": "Attenuated familial adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["AAPC", "AFAP", "HFAS", "attenuated FAP", "attenuated adenomatous polyposis coli", "attenuated familial adenomatous polyposis", "attenuated familial polyposis coli", "hereditary flat adenoma syndrome"], "xref": ["GARD:0008532", "MEDGEN:436213", "MESH:C538265", "NCIT:C6729", "Orphanet:220460", "SCTID:715866009", "UMLS:C2674616", "icd11.foundation:1023083906"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.", "id": "MONDO:0016364", "name": "Joubert syndrome with ocular defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JS-O", "Joubert syndrome with retinopathy"], "xref": ["GARD:0010168", "MEDGEN:909607", "Orphanet:220493", "SCTID:716998009", "UMLS:C4274118", "icd11.foundation:1358617785"]}
{"category": ["biolink:Disease"], "description": "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0016365", "name": "Familial primary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hereditary primary hyperparathyroidism (disease)"], "xref": ["GARD:0002837", "MEDGEN:543605", "Orphanet:2207", "UMLS:C0271846", "icd11.foundation:1186866066"]}
{"category": ["biolink:Disease"], "description": "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.", "id": "MONDO:0016366", "name": "Maternal phenylketonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperphenylalaninemic embryopathy", "maternal PKU", "maternal hyperphenylalaninemia", "phenylketonuric embryopathy"], "xref": ["GARD:0003413", "MEDGEN:88435", "MESH:D017042", "Orphanet:2209", "UMLS:C0085547", "icd11.foundation:1509230254"]}
{"category": ["biolink:Disease"], "description": "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.", "id": "MONDO:0016367", "name": "Dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DM", "dermatomyositis", "dermatopolymyositis"], "xref": ["DOID:10223", "EFO:0000398", "GARD:0006263", "ICD10CM:M33", "ICD9:710.3", "MEDGEN:8331", "MESH:D003882", "MedDRA:10012503", "NANDO:1200274", "NCIT:C26744", "NORD:1048", "Orphanet:221", "SCTID:396230008", "UMLS:C0011633", "icd11.foundation:739030149"]}
{"category": ["biolink:Disease"], "description": "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.", "id": "MONDO:0016368", "name": "Rothmund-thomson syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RTS1", "Rothmund-Thomson syndrome, type 1", "poikiloderma of Rothmund-Thomson type 1"], "xref": ["GARD:0017134", "MEDGEN:1684764", "NCIT:C178826", "OMIM:618625", "Orphanet:221008", "UMLS:C5231433", "icd11.foundation:717855330"]}
{"category": ["biolink:Disease"], "description": "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.", "id": "MONDO:0016369", "name": "Rothmund-thomson syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RTS2", "Rothmund-Thomson syndrome, type 2", "poikiloderma of Rothmund-Thomson type 2"], "xref": ["GARD:0017135", "MEDGEN:1684753", "NCIT:C178827", "OMIM:268400", "Orphanet:221016", "UMLS:C5203410", "icd11.foundation:2111040755"]}
{"category": ["biolink:Disease"], "description": "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.", "id": "MONDO:0016370", "name": "Marchiafava-bignami disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marchiafava Bignami disease"], "xref": ["EFO:1001809", "GARD:0006971", "ICD9:341.8", "MEDGEN:65955", "MESH:D054319", "MedDRA:10026828", "Orphanet:221074", "SCTID:386766007", "UMLS:C0238265", "icd11.foundation:1694687314"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016371", "name": "Combined hyperactive dysfunction syndrome of the cranial nerves", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020541", "MEDGEN:1677292", "Orphanet:221078", "UMLS:C5190851", "icd11.foundation:457686735"]}
{"category": ["biolink:Disease"], "description": "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.", "id": "MONDO:0016372", "name": "Glossopharyngeal neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Glossovasopharyngeal neuralgia", "glossopharyngeal nerve neuralgia", "glossopharyngeal neuralgia", "neuralgia of glossopharyngeal nerve"], "xref": ["DOID:14423", "GARD:0006519", "ICD9:352.1", "MEDGEN:57595", "MedDRA:10018391", "Orphanet:221098", "SCTID:43763009", "UMLS:C0154731"]}
{"category": ["biolink:Disease"], "description": "A condition that consists of spontaneous, gentle, constant, rippling contractions that spread through the affected striated muscle.", "id": "MONDO:0016373", "name": "Isolated facial myokymia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G51.4", "MEDGEN:78741", "Orphanet:221106", "UMLS:C0270871"]}
{"category": ["biolink:Disease"], "description": "A neuralgia that involves the cranial neuron projection bundle.", "id": "MONDO:0016374", "name": "Cranial neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["cranial neuron projection bundle neuralgia", "neuralgia of cranial neuron projection bundle"], "xref": ["GARD:0020542", "MEDGEN:507603", "Orphanet:221109", "SCTID:23096007", "UMLS:C0010269"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016376", "name": "Confetti-like macular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020544", "MEDGEN:1803272", "Orphanet:221142", "UMLS:C5687155"]}
{"category": ["biolink:Disease"], "description": "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.", "id": "MONDO:0016377", "name": "Pitt-hopkins-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PTHSL"], "xref": ["GARD:0011967", "MEDGEN:1648432", "Orphanet:221150", "UMLS:C4751168"]}
{"category": ["biolink:Disease"], "description": "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.", "id": "MONDO:0016378", "name": "Maternal hyperthermia induced birth defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002856", "MEDGEN:1631447", "Orphanet:2216", "SCTID:765138001", "UMLS:C4707329", "icd11.foundation:1917022285"]}
{"category": ["biolink:Disease"], "description": "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.", "id": "MONDO:0016379", "name": "Erosive pustular dermatosis of the scalp", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002188", "MEDGEN:96057", "Orphanet:222", "SCTID:238733003", "UMLS:C0406464", "icd11.foundation:982719772"]}
{"category": ["biolink:Disease"], "description": "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.", "id": "MONDO:0016380", "name": "Acquired hypertrichosis lanuginosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002864", "ICD10CM:L68.1", "MEDGEN:87468", "Orphanet:2221", "SCTID:25967007", "UMLS:C0343072", "icd11.foundation:1885858920"]}
{"category": ["biolink:Disease"], "description": "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.", "id": "MONDO:0016381", "name": "Hypertrichosis lanuginosa congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypertrichosis lanuginosa congenita", "hypertrichosis universalis"], "xref": ["GARD:0002865", "MEDGEN:66727", "MESH:C538389", "OMIM:145700", "Orphanet:2222", "SCTID:201163007", "UMLS:C0235864", "icd11.foundation:199539869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016382", "name": "Hereditary poikiloderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020545", "MEDGEN:1842934", "Orphanet:222628", "UMLS:C5680891"]}
{"category": ["biolink:Disease"], "description": "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children.", "id": "MONDO:0016383", "name": "Nephrogenic diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:12387", "GARD:0007178", "ICD10CM:N25.1", "ICD9:588.1", "MEDGEN:57876", "MESH:D018500", "MedDRA:10029147", "NANDO:1200742", "NANDO:2200326", "NCIT:C84919", "NORD:1497", "Orphanet:223", "SCTID:111395007", "UMLS:C0162283", "icd11.foundation:1417669099"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.", "id": "MONDO:0016384", "name": "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Salti-Salem syndrome"], "xref": ["GARD:0000324", "MEDGEN:928748", "Orphanet:2230", "SCTID:721842008", "UMLS:C4303079"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.", "id": "MONDO:0016385", "name": "Hypogonadism-mitral valve prolapse-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cantalamessa-Baldini-Ambrosi syndrome"], "xref": ["GARD:0001078", "MEDGEN:444117", "MESH:C537981", "Orphanet:2233", "SCTID:721841001", "UMLS:C2931685"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.", "id": "MONDO:0016386", "name": "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chang-Davidson-Carlson syndrome"], "xref": ["GARD:0001234", "MEDGEN:419479", "MESH:C538075", "Orphanet:2235", "UMLS:C2931722"]}
{"category": ["biolink:Disease"], "description": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.", "id": "MONDO:0016387", "name": "Mitochondrial oxidative phosphorylation disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["OXPHOS disease", "OXPHOS system deficiency"], "xref": ["GARD:0020546", "MEDGEN:1825947", "Orphanet:223713", "UMLS:C5679825", "icd11.foundation:1204111545"]}
{"category": ["biolink:Disease"], "description": "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.", "id": "MONDO:0016390", "name": "Familial hypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Familial Isolated Hypoparathyroidism", "familial isolated hypoparathyroidism", "hypoparathyroidism familial isolated", "hypoparathyroidism, familial", "hypoparathyroidism, familial isolated"], "xref": ["DOID:0111387", "GARD:0002910", "MEDGEN:322005", "MESH:C537156", "NORD:1128", "OMIMPS:146200", "Orphanet:2238", "SCTID:725036000", "UMLS:C1832648", "icd11.foundation:1907423603"]}
{"category": ["biolink:Disease"], "description": "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.", "id": "MONDO:0016391", "name": "Neonatal diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NDM", "congenital diabetes mellitus", "diabetes mellitus syndrome in newborn infant"], "xref": ["DOID:11717", "GARD:0018682", "ICD10CM:P70.2", "ICD9:775.1", "MEDGEN:57645", "MedDRA:10028933", "NANDO:2200463", "NCIT:C99248", "Orphanet:224", "SCTID:49817004", "UMLS:C0158981", "icd11.foundation:1217915084"]}
{"category": ["biolink:Disease"], "description": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.", "id": "MONDO:0016392", "name": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0070339", "GARD:0001196", "MEDGEN:902621", "Orphanet:2246", "UMLS:C4275139"]}
{"category": ["biolink:Disease"], "description": "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.", "id": "MONDO:0016394", "name": "Sporadic infantile bilateral striatal necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABSN", "acute bilateral striatal necrosis", "sporadic IBSN", "sporadic infantile striatonigral degeneration", "sporadic infantile striatonigral necrosis"], "xref": ["GARD:0020549", "MEDGEN:1672494", "Orphanet:225147", "UMLS:C4087175", "icd11.foundation:1174703901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016395", "name": "Foveal hypoplasia-presenile cataract syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["O'Donnell-Pappas syndrome"], "xref": ["GARD:0000406", "MEDGEN:419129", "MESH:C537858", "Orphanet:2253", "UMLS:C2931644"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.", "id": "MONDO:0016396", "name": "Pontocerebellar hypoplasia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRT32", "Norman disease", "PCH1"], "xref": ["DOID:0112322", "GARD:0010704", "MEDGEN:1780208", "MESH:C548069", "Orphanet:2254", "SCTID:718610008", "UMLS:C5442006", "icd11.foundation:1227773923"]}
{"category": ["biolink:Disease"], "description": "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.", "id": "MONDO:0016407", "name": "Oligomeganephronia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Oligomeganephronic renal hypoplasia"], "xref": ["DOID:0111142", "GARD:0004066", "MEDGEN:609100", "NANDO:2200159", "NCIT:C123202", "Orphanet:2260", "SCTID:18417009", "UMLS:C0431694", "icd11.foundation:1283447040"]}
{"category": ["biolink:Disease"], "description": "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.", "id": "MONDO:0016408", "name": "Permanent congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020560", "MEDGEN:1843186", "Orphanet:226292", "UMLS:C5680893", "icd11.foundation:801729371"]}
{"category": ["biolink:Disease"], "description": "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.", "id": "MONDO:0016410", "name": "Central congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TSH deficiency", "central hypothyroidism", "hypothalamic-pituitary hypothyroidism", "secondary hypothyroidism", "thyroid stimulating hormone deficiency", "thyrotropin deficiency"], "xref": ["GARD:0012280", "MEDGEN:927869", "NANDO:1200390", "NANDO:2200332", "NANDO:2200340", "NCIT:C113144", "Orphanet:226298", "UMLS:C4302200", "icd11.foundation:848364569"]}
{"category": ["biolink:Disease"], "description": "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.", "id": "MONDO:0016411", "name": "Hypothyroidism due to deficient transcription factors involved in pituitary development or function", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020562", "MEDGEN:900830", "Orphanet:226307", "UMLS:C4273672"]}
{"category": ["biolink:Disease"], "description": "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.", "id": "MONDO:0016412", "name": "Peripheral hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025073", "MEDGEN:1843430", "Orphanet:226310", "UMLS:C5704669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016413", "name": "Congenital hypothyroidism due to maternal intake of antithyroid drugs", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020563", "MEDGEN:1673658", "Orphanet:226313", "UMLS:C5190849"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.", "id": "MONDO:0016414", "name": "Hypotrichosis-intellectual disability, lopes type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lopes-Marques de Faria syndrome"], "xref": ["GARD:0018763", "MEDGEN:1371854", "Orphanet:2266", "UMLS:C4509839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016416", "name": "Diphallia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001872", "ICD9:752.69", "MEDGEN:450542", "Orphanet:227", "SCTID:253851000", "UMLS:C0345322", "icd11.foundation:1465839134"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016417", "name": "Congenital ichthyosis-microcephalus-tetraplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital ichthyosis-microcephalus-quadriplegia syndrome"], "xref": ["GARD:0001489", "MEDGEN:1809863", "Orphanet:2271", "UMLS:C5679626"]}
{"category": ["biolink:Disease"], "description": "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).", "id": "MONDO:0016418", "name": "Multiple system atrophy, cerebellar type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MSA, cerebellar type", "MSA-c", "sporadic OPCA type 1", "sporadic olivopontocerebellar atrophy type 1"], "xref": ["GARD:0020565", "MEDGEN:1843304", "NANDO:1200035", "Orphanet:227510", "UMLS:C5554234", "icd11.foundation:1585600114"]}
{"category": ["biolink:Disease"], "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "id": "MONDO:0016419", "name": "Hereditary breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["breast cancer susceptibility, autosomal dominant, somatic mutation", "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "breast cancer, lobular, somatic", "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "breast cancer, protection against, autosomal dominant, somatic mutation", "breast cancer, somatic", "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "familial breast cancer", "familial breast carcinoma", "familial cancer of breast", "familial cancer of the breast", "hereditary breast cancer", "hereditary breast carcinoma"], "xref": ["GARD:0017142", "MEDGEN:87542", "MESH:C562840", "NCIT:C4503", "OMIM:114480", "Orphanet:227535", "SCTID:254843006", "UMLS:C0346153"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016420", "name": "Familial flecked retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["hereditary flecked retinopathy"], "xref": ["Orphanet:227786", "icd11.foundation:979898273"]}
{"category": ["biolink:Disease"], "description": "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.", "id": "MONDO:0016421", "name": "Toxic oil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020566", "MedDRA:10051222", "Orphanet:227972", "SCTID:239910001"]}
{"category": ["biolink:Disease"], "description": "A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.", "id": "MONDO:0016422", "name": "Autoimmune polyendocrinopathy type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APS type 3", "APS3", "autoimmune polyendocrine syndrome type 3", "autoimmune polyglandular syndrome type 3"], "xref": ["GARD:0010980", "ICD9:258.1", "MEDGEN:453060", "Orphanet:227982", "SCTID:449731009", "UMLS:C1535942", "icd11.foundation:1361747293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016423", "name": "Autoimmune polyendocrinopathy type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APS type 4", "APS4", "autoimmune polyendocrine syndrome type 4", "autoimmune polyglandular syndrome type 4"], "xref": ["GARD:0020567", "ICD9:258.1", "MEDGEN:757804", "Orphanet:227990", "SCTID:449730005", "UMLS:C3266026", "icd11.foundation:1561026337"]}
{"category": ["biolink:Disease"], "description": "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.", "id": "MONDO:0016424", "name": "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome", "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome", "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"], "xref": ["GARD:0017145", "MEDGEN:930500", "Orphanet:228012", "UMLS:C4304831"]}
{"category": ["biolink:Disease"], "description": "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.", "id": "MONDO:0016425", "name": "Hughes-stovin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020569", "MEDGEN:929147", "Orphanet:228116", "SCTID:721226005", "UMLS:C4303478", "icd11.foundation:1047123748"]}
{"category": ["biolink:Disease"], "description": "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.", "id": "MONDO:0016426", "name": "Fusariosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fusarium caused disease or disorder", "Fusarium disease or disorder", "Fusarium infection", "Fusarium infectious disease"], "xref": ["DOID:0050289", "EFO:1001795", "GARD:0020570", "MEDGEN:452375", "MESH:D060585", "MedDRA:10051919", "Orphanet:228119", "SCTID:64250002", "UMLS:C0276758", "icd11.foundation:565900954"]}
{"category": ["biolink:Disease"], "description": "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.", "id": "MONDO:0016429", "name": "Marburg acute multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acute multiple sclerosis, Marburg type", "acute multiple sclerosis, Marburg variant"], "xref": ["GARD:0020572", "MEDGEN:1641985", "Orphanet:228157", "SCTID:766246000", "UMLS:C4707723", "icd11.foundation:113448281"]}
{"category": ["biolink:Disease"], "description": "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.", "id": "MONDO:0016430", "name": "Balo concentric sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Balo Disease", "Balo concentric sclerosis", "Balo's concentric sclerosis", "concentric demyelination"], "xref": ["DOID:0060215", "GARD:0005885", "MEDGEN:498", "MedDRA:10010252", "NANDO:1200028", "NORD:835", "Orphanet:228165", "SCTID:230380005", "UMLS:C0004712"]}
{"category": ["biolink:Disease"], "description": "A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.", "id": "MONDO:0016431", "name": "Autosomal dominant charcot-marie-tooth disease type 2m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2M"], "xref": ["GARD:0017147", "MEDGEN:930341", "Orphanet:228179", "SCTID:719514002", "UMLS:C4304672", "icd11.foundation:1601555981"]}
{"category": ["biolink:Disease"], "description": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.", "id": "MONDO:0016432", "name": "Heart-hand syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["atriodigital dysplasia"], "xref": ["GARD:0020573", "MEDGEN:1853290", "Orphanet:228184", "UMLS:C5848054"]}
{"category": ["biolink:Disease"], "description": "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.", "id": "MONDO:0016433", "name": "Dysmorphism-short stature-deafness-disorder of sex development syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome"], "xref": ["GARD:0018764", "MEDGEN:1383129", "Orphanet:2282", "UMLS:C4518561"]}
{"category": ["biolink:Disease"], "description": "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.", "id": "MONDO:0016437", "name": "Late-onset focal dermal elastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PXE-like late-onset focal dermal elastosis", "pseudoxanthoma-like late-onset focal dermal elastosis"], "xref": ["GARD:0020578", "MEDGEN:1658281", "Orphanet:228227", "UMLS:C4751167"]}
{"category": ["biolink:Disease"], "description": "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.", "id": "MONDO:0016438", "name": "Linear focal dermal elastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Elastotic striae"], "xref": ["GARD:0020579", "MEDGEN:1666729", "Orphanet:228236", "UMLS:C4751166"]}
{"category": ["biolink:Disease"], "description": "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.", "id": "MONDO:0016439", "name": "Elastoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012716", "ICD9:701.8", "MEDGEN:590504", "Orphanet:228240", "SCTID:238832003", "UMLS:C0406555", "icd11.foundation:1880397739"]}
{"category": ["biolink:Disease"], "description": "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.", "id": "MONDO:0016440", "name": "Elastofibroma dorsi", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Elastofibroma"], "xref": ["GARD:0020580", "ICDO:8820/0", "MEDGEN:87247", "NCIT:C4245", "Orphanet:228243", "UMLS:C0334460"]}
{"category": ["biolink:Disease"], "description": "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.", "id": "MONDO:0016441", "name": "Acquired pseudoxanthoma elasticum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acquired Gronblad-Strandberg-Touraine syndrome", "acquired PXE", "acquired pseudoxanthoma elasticum", "acquired pseudoxanthoma elasticum (inherited or acquired)", "localised acquired cutaneous pseudoxanthoma elasticum", "localized acquired cutaneous pseudoxanthoma elasticum"], "xref": ["GARD:0020581", "ICD9:757.39", "MEDGEN:698082", "Orphanet:228247", "SCTID:403401007", "UMLS:C1274759", "icd11.foundation:2017339816"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016442", "name": "Elastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nevus elasticus", "Weidman juvenile elastoma", "juvenile elastoma without osteopoikilosis"], "xref": ["GARD:0020582", "ICD9:215.9", "MEDGEN:473177", "Orphanet:228254", "SCTID:239140003", "UMLS:C0473583", "icd11.foundation:1464650282"]}
{"category": ["biolink:Disease"], "description": "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.", "id": "MONDO:0016443", "name": "Papular elastorrhexis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nevus anelasticus", "disseminated nevus anelasticus", "eruptive collagenoma"], "xref": ["GARD:0020583", "MEDGEN:1813032", "NCIT:C4707", "Orphanet:228264", "SCTID:239138008", "UMLS:C5680907", "icd11.foundation:1231672259"]}
{"category": ["biolink:Disease"], "description": "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.", "id": "MONDO:0016444", "name": "Primary anetoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["primary macular atrophy"], "xref": ["GARD:0020584", "MEDGEN:98029", "MESH:D057088", "Orphanet:228272", "SCTID:238829001", "UMLS:C0406550", "icd11.foundation:308286033"]}
{"category": ["biolink:Disease"], "description": "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.", "id": "MONDO:0016445", "name": "Familial anetoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary anetoderma", "hereditary macular atrophy"], "xref": ["GARD:0020585", "MEDGEN:1387956", "Orphanet:228277", "SCTID:733467001", "UMLS:C4518793"]}
{"category": ["biolink:Disease"], "description": "An instance of cutis laxa that is acquired during the lifetime of the individual.", "id": "MONDO:0016446", "name": "Acquired cutis laxa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acquired cutis laxa", "cutis laxa acquisita"], "xref": ["GARD:0020586", "MEDGEN:590500", "Orphanet:228285", "SCTID:19726003", "UMLS:C0406549", "icd11.foundation:807277512"]}
{"category": ["biolink:Disease"], "description": "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.", "id": "MONDO:0016447", "name": "White fibrous papulosis of the neck", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020587", "MEDGEN:1647664", "Orphanet:228290", "UMLS:C4706484", "icd11.foundation:1989852752"]}
{"category": ["biolink:Disease"], "description": "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.", "id": "MONDO:0016448", "name": "Pseudoxanthoma elasticum-like papillary dermal elastolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PXE-PDE", "PXE-like papillary dermal elastolysis"], "xref": ["GARD:0020588", "MEDGEN:1638395", "Orphanet:228293", "SCTID:764105002", "UMLS:C4049455", "icd11.foundation:704601885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016449", "name": "Mid-dermal elastolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020589", "MEDGEN:1672488", "Orphanet:228299", "UMLS:C4728147", "icd11.foundation:1379952112"]}
{"category": ["biolink:Disease"], "description": "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).", "id": "MONDO:0016450", "name": "Autoimmune hemolytic anemia, cold type", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cAHA", "cAIHA", "cold AIHA"], "xref": ["GARD:0020590", "MEDGEN:104501", "Orphanet:228312", "UMLS:C0175816", "icd11.foundation:1836938544"]}
{"category": ["biolink:Disease"], "description": "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.", "id": "MONDO:0016451", "name": "Idiopathic hypersomnia with long sleep time", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025074", "ICD10CM:G47.11", "ICD9:327.11", "MEDGEN:750832", "Orphanet:228315", "SCTID:442416002", "UMLS:C2711059"]}
{"category": ["biolink:Disease"], "description": "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.", "id": "MONDO:0016452", "name": "Idiopathic hypersomnia without long sleep time", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025075", "ICD10CM:G47.12", "ICD9:327.12", "MEDGEN:736092", "Orphanet:228318", "SCTID:442292004", "UMLS:C1561855"]}
{"category": ["biolink:Disease"], "description": "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.", "id": "MONDO:0016453", "name": "Foodborne botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["intoxication botulism"], "xref": ["DOID:0050352", "GARD:0020591", "ICD9:005.1", "MEDGEN:320728", "NCIT:C128341", "Orphanet:228371", "SCTID:398523009", "UMLS:C1739094", "icd11.foundation:2033726602"]}
{"category": ["biolink:Disease"], "description": "A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.", "id": "MONDO:0016454", "name": "Charcot-marie-tooth disease type 2b5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT2B5", "Charcot-Marie-Tooth disease type 2B5", "SEOAN due to NEFL deficiency", "autosomal recessive Charcot-Marie-Tooth disease type 2B5", "severe early-onset axonal neuropathy due to NEFL deficiency", "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency"], "xref": ["GARD:0017153", "MEDGEN:1668955", "Orphanet:228374", "UMLS:C4749824", "icd11.foundation:1603286685"]}
{"category": ["biolink:Disease"], "description": "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.", "id": "MONDO:0016455", "name": "Virus-associated trichodysplasia spinulosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cyclosporine-induced folliculodystrophy", "TS", "VATS", "pilomatrix dysplasia", "trichodysplasia spinulosa"], "xref": ["GARD:0020592", "MEDGEN:1432798", "Orphanet:228379", "UMLS:C3267126"]}
{"category": ["biolink:Disease"], "description": "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.", "id": "MONDO:0016456", "name": "5q14.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Del(5)(q14.3)", "monosomy 5q14.3"], "xref": ["GARD:0012166", "MEDGEN:930198", "Orphanet:228384", "SCTID:719661007", "UMLS:C4304529"]}
{"category": ["biolink:Disease"], "description": "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.", "id": "MONDO:0016457", "name": "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020593", "MEDGEN:1378529", "Orphanet:228396", "UMLS:C4510249"]}
{"category": ["biolink:Disease"], "description": "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.", "id": "MONDO:0016458", "name": "8q12 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(8)(q12)", "trisomy 8q12"], "xref": ["GARD:0012816", "MEDGEN:930173", "Orphanet:228399", "SCTID:719684000", "UMLS:C4304504"]}
{"category": ["biolink:Disease"], "description": "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.", "id": "MONDO:0016459", "name": "2q23.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(2)(q23.1)", "monosomy 2q23.1", "pseudo-Angelman syndrome"], "xref": ["GARD:0010998", "MEDGEN:930201", "Orphanet:228402", "SCTID:719657001", "UMLS:C4304532"]}
{"category": ["biolink:Disease"], "description": "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.", "id": "MONDO:0016460", "name": "Polyvalvular heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHD syndrome"], "xref": ["GARD:0020594", "MEDGEN:1376905", "Orphanet:228410", "SCTID:723448007", "UMLS:C4509918"]}
{"category": ["biolink:Disease"], "description": "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.", "id": "MONDO:0016461", "name": "5q35 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(5)(q35)", "trisomy 5q35"], "xref": ["GARD:0020595", "MEDGEN:930195", "Orphanet:228415", "SCTID:719665003", "UMLS:C4304526"]}
{"category": ["biolink:Disease"], "description": "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.", "id": "MONDO:0016462", "name": "Isolated agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated hypogammaglobulinemia", "nonsyndromic agammaglobulinemia"], "xref": ["GARD:0017155", "MEDGEN:1639972", "Orphanet:229717", "SCTID:764858009", "UMLS:C4707181"]}
{"category": ["biolink:Disease"], "description": "A agammaglobulinemia that is part of a larger syndrome.", "id": "MONDO:0016463", "name": "Syndromic agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["syndrome associated with agammaglobulinemia", "syndromic agammaglobulinemia", "syndromic hypogammaglobulinemia"], "xref": ["GARD:0020596", "MEDGEN:1843258", "NCIT:C26931", "Orphanet:229720", "UMLS:C5680904"]}
{"category": ["biolink:Disease"], "description": "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.", "id": "MONDO:0016464", "name": "Insulin-resistance syndrome type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003009", "MEDGEN:574967", "Orphanet:2298", "UMLS:C0342337", "icd11.foundation:408487090"]}
{"category": ["biolink:Disease"], "description": "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.", "id": "MONDO:0016466", "name": "Asbestosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["asbestos dust pneumoconiosis", "asbestos pneumoconiosis", "asbestosis", "pneumoconiosis from asbestos dust"], "xref": ["CSP:2596-4484", "DOID:10320", "EFO:0007153", "GARD:0005852", "ICD9:501", "MEDGEN:2462", "MESH:D001195", "NCIT:C84573", "Orphanet:2302", "SCTID:22607003", "UMLS:C0003949", "icd11.foundation:898495881"]}
{"category": ["biolink:Disease"], "description": "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.", "id": "MONDO:0016467", "name": "Isotretinoin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Fetal Retinoid Syndrome", "Isotretinoin embryopathy", "Retinoids embryopathy", "fetal isotretinoin syndrome", "fetal retinoid syndrome", "foetal isotretinoin syndrome", "foetal retinoid syndrome", "retinoic acid embryopathy"], "xref": ["MEDGEN:419683", "MESH:C535670", "NCIT:C98929", "NORD:1140", "Orphanet:2305", "SCTID:36871005", "UMLS:C2930972"]}
{"category": ["biolink:Disease"], "description": "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).", "id": "MONDO:0016468", "name": "Toxin-mediated infectious botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["toxin-mediated infective botulism"], "xref": ["GARD:0020597", "MEDGEN:1842703", "Orphanet:230800", "UMLS:C5679843", "icd11.foundation:1373611689"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.", "id": "MONDO:0016469", "name": "Ehlers-danlos syndrome, vascular-like type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EDS, vascular-like type"], "xref": ["GARD:0025076", "Orphanet:230845", "SCTID:720862007", "icd11.foundation:240424885"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.", "id": "MONDO:0016470", "name": "Ehlers-danlos/osteogenesis imperfecta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS/OI syndrome"], "xref": ["GARD:0017156", "MEDGEN:1386497", "MESH:C565178", "OMIMPS:619115", "Orphanet:230857", "UMLS:C4518787"]}
{"category": ["biolink:Disease"], "description": "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.", "id": "MONDO:0016471", "name": "Pachyonychia congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PC"], "xref": ["DOID:0050449", "GARD:0010753", "MEDGEN:78556", "MESH:D053549", "NCIT:C84986", "NORD:1542", "OMIMPS:167200", "Orphanet:2309", "UMLS:C0265334", "icd11.foundation:1446983705"]}
{"category": ["biolink:Disease"], "description": "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).", "id": "MONDO:0016472", "name": "Dracunculiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dracunculosis", "Dracunculus medinensis caused disease or disorder", "Dracunculus medinensis disease or disorder", "Dracunculus medinensis infectious disease", "Guinea worm disease", "Medina worm disease", "dracontiasis", "medinensis"], "xref": ["DOID:14418", "EFO:0007241", "GARD:0006286", "ICD10CM:B72", "ICD10WHO:B72", "ICD9:125.7", "MEDGEN:41653", "MESH:D004320", "MedDRA:10013618", "NCIT:C84677", "NORD:1060", "Orphanet:231", "SCTID:396334002", "UMLS:C0013100", "icd11.foundation:1662537619"]}
{"category": ["biolink:Disease"], "description": "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.", "id": "MONDO:0016473", "name": "Familial rhabdoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RTPS", "familial posterior fossa brain tumor syndrome of infancy", "familial posterior fossa brain tumour syndrome of infancy", "familial rhabdoid tumor", "hereditary rhabdoid tumor", "hereditary rhabdoid tumour", "rhabdoid predisposition syndrome", "rhabdoid tumor predisposition syndrome", "rhabdoid tumour predisposition syndrome"], "xref": ["DOID:0070617", "GARD:0017159", "MEDGEN:457750", "NCIT:C93268", "OMIMPS:609322", "Orphanet:231108", "UMLS:C2985524"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.", "id": "MONDO:0016474", "name": "Drug-induced lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DILE", "drug induced lupus", "drug induced lupus erythematosus", "drug-induced lupus"], "xref": ["DOID:0040093", "GARD:0020599", "MEDGEN:537988", "MedDRA:10013706", "NCIT:C114354", "Orphanet:231111", "SCTID:80258006", "UMLS:C0263591", "icd11.foundation:1239818910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016475", "name": "Beckwith-wiedemann syndrome due to imprinting defect of 11p15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15"], "xref": ["GARD:0020600", "MEDGEN:1842606", "Orphanet:231117", "UMLS:C5680922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016476", "name": "Beckwith-wiedemann syndrome due to cdkn1c mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0017160", "MEDGEN:1826157", "Orphanet:231120", "UMLS:C5680918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016477", "name": "Beckwith-wiedemann syndrome due to 11p15 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0020601", "MEDGEN:1826104", "Orphanet:231127", "UMLS:C5680919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016478", "name": "Beckwith-wiedemann syndrome due to 11p15 translocation/inversion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0020602", "MEDGEN:1826105", "Orphanet:231130", "UMLS:C5680920"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016479", "name": "Silver-russell syndrome due to 7p11.2p13 microduplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Silver-Russell syndrome due to 7p11.2-p13 microduplication", "Silver-Russell syndrome due to dup(7)(p11.2p13)", "Silver-Russell syndrome due to trisomy 7p11.2-p13", "Silver-Russell syndrome due to trisomy 7p11.2p13"], "xref": ["GARD:0020603", "MEDGEN:1826059", "Orphanet:231137", "UMLS:C5679840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016480", "name": "Silver-russell syndrome due to an imprinting defect of 11p15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Silver-Russell syndrome due to an imprinting defect of type 11p15"], "xref": ["GARD:0020604", "MEDGEN:1826102", "Orphanet:231140", "UMLS:C5680916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016481", "name": "Silver-russell syndrome due to 11p15 microduplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020605", "MEDGEN:1826103", "Orphanet:231144", "UMLS:C5680917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016482", "name": "Silver-russell syndrome due to maternal uniparental disomy of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11", "UPD(11)mat"], "xref": ["GARD:0020606", "MEDGEN:1843295", "Orphanet:231147", "UMLS:C5679841"]}
{"category": ["biolink:Disease"], "description": "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.", "id": "MONDO:0016483", "name": "Intracranial berry aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aneurysm, intracranial berry", "familial aneurysmal subarachnoid haemorrhage", "familial berry aneurysm", "familial intracranial saccular aneurysm"], "xref": ["DOID:0060228", "GARD:0017161", "HP:0007029", "MEDGEN:825711", "OMIMPS:105800", "Orphanet:231160", "SCTID:703226008", "UMLS:C3839866", "icd11.foundation:59881644"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.", "id": "MONDO:0016484", "name": "Usher syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["USH2", "Usher syndrome type 2"], "xref": ["DOID:0110827", "GARD:0005440", "MEDGEN:83288", "NANDO:1200943", "NCIT:C126328", "Orphanet:231178", "SCTID:232058008", "UMLS:C0339534", "icd11.foundation:33632175"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.", "id": "MONDO:0016485", "name": "Usher syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["USH3", "Usher syndrome type 3"], "xref": ["DOID:0110828", "GARD:0005442", "MEDGEN:339336", "NANDO:1200944", "NCIT:C126329", "Orphanet:231183", "UMLS:C1568248", "icd11.foundation:1734357568"]}
{"category": ["biolink:Disease"], "description": "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.", "id": "MONDO:0016486", "name": "Beta-thalassemia major", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Beta thalassemia Major", "Cooley anaemia", "Cooley anemia", "Cooley's Anaemia", "Cooley's Anemia", "Mediterranean anaemia", "Mediterranean anemia"], "xref": ["DOID:0080771", "GARD:0017162", "ICD9:282.49", "MEDGEN:283", "NCIT:C129699", "Orphanet:231214", "SCTID:26682008", "UMLS:C0002875"]}
{"category": ["biolink:Disease"], "description": "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.", "id": "MONDO:0016487", "name": "Beta-thalassemia intermedia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080772", "GARD:0017163", "ICD9:282.49", "MEDGEN:450544", "MedDRA:10062923", "Orphanet:231222", "SCTID:191189009", "UMLS:C0472767"]}
{"category": ["biolink:Disease"], "description": "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.", "id": "MONDO:0016489", "name": "Delta-beta-thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080773", "GARD:0017165", "ICD10CM:D56.2", "ICD9:282.49", "MEDGEN:78790", "MESH:C562716", "MedDRA:10012236", "NCIT:C172823", "Orphanet:231237", "SCTID:16360009", "UMLS:C0271985"]}
{"category": ["biolink:Disease"], "description": "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.", "id": "MONDO:0016490", "name": "Hemoglobin c-beta-thalassemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C-beta-thalassemia", "HBC-beta-thalassemia syndrome"], "xref": ["GARD:0020608", "MEDGEN:526128", "Orphanet:231242", "UMLS:C0221020"]}
{"category": ["biolink:Disease"], "description": "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.", "id": "MONDO:0016491", "name": "Hemoglobin e-beta-thalassemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["E-beta-thalassemia", "HbE-beta-thalassemia syndrome"], "xref": ["GARD:0020609", "MEDGEN:632783", "Orphanet:231249", "UMLS:C0472777"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016496", "name": "Pharyngeal-cervical-brachial variant of guillain-barre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PCB variant of GBS", "PCB variant of Guillain-Barre syndrome", "PCB variant of Guillain-Barré syndrome", "pharyngeal-cervical-brachial weakness", "pharyngo-cervico-brachial variant of GBS", "pharyngo-cervico-brachial variant of Guillain-Barre syndrome", "pharyngo-cervico-brachial variant of Guillain-Barré syndrome"], "xref": ["GARD:0020614", "MEDGEN:1682775", "Orphanet:231426", "UMLS:C5190783"]}
{"category": ["biolink:Disease"], "description": "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.", "id": "MONDO:0016497", "name": "Paraparetic variant of guillain-barre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["paraparetic variant of GBS"], "xref": ["GARD:0020615", "MEDGEN:1644763", "Orphanet:231445", "UMLS:C4707803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016498", "name": "Acute pure sensory neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acute pure sensory GBS", "acute pure sensory Guillain-Barre syndrome", "acute pure sensory Guillain-Barré syndrome"], "xref": ["GARD:0020616", "MEDGEN:1682724", "Orphanet:231450", "UMLS:C5190881"]}
{"category": ["biolink:Disease"], "description": "A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.", "id": "MONDO:0016499", "name": "Autoimmune autonomic ganglionopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AAG", "acute panautonomic GBS", "acute panautonomic Guillain-Barre syndrome", "acute panautonomic Guillain-Barré syndrome", "acute panautonomic neuropathy", "acute pandysautonomia", "autoimmune autonomic neuropathy", "idiopathic subacute autonomic neuropathy"], "xref": ["GARD:0020617", "MEDGEN:746161", "Orphanet:231457", "SCTID:430042004", "UMLS:C2315246"]}
{"category": ["biolink:Disease"], "description": "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.", "id": "MONDO:0016500", "name": "Acute sensory ataxic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ASAN", "acute sensory ataxic GBS", "acute sensory ataxic Guillain-Barre syndrome", "acute sensory ataxic Guillain-Barré syndrome"], "xref": ["GARD:0020618", "MEDGEN:1641312", "Orphanet:231466", "SCTID:766049000", "UMLS:C4707661", "icd11.foundation:1951716831"]}
{"category": ["biolink:Disease"], "description": "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.", "id": "MONDO:0016501", "name": "Hermansky-pudlak syndrome with pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HPS with pulmonary fibrosis"], "xref": ["GARD:0017168", "MEDGEN:1843223", "Orphanet:231500", "UMLS:C5679834", "icd11.foundation:1086187623"]}
{"category": ["biolink:Disease"], "description": "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.", "id": "MONDO:0016502", "name": "Hermansky-pudlak syndrome without pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HPS without pulmonary fibrosis"], "xref": ["GARD:0017169", "MEDGEN:1842321", "Orphanet:231512", "UMLS:C5679833", "icd11.foundation:1363499932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016503", "name": "Congenital erosive and vesicular dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CEVD", "congenital erosive and vesicular dermatosis with reticulated supple scarring"], "xref": ["GARD:0020619", "MEDGEN:1669240", "Orphanet:231573", "UMLS:C4751164", "icd11.foundation:2106762282"]}
{"category": ["biolink:Disease"], "description": "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.", "id": "MONDO:0016504", "name": "Primary unilateral adrenal hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PUAH"], "xref": ["GARD:0020620", "MEDGEN:905007", "Orphanet:231580", "SCTID:715868005", "UMLS:C4274967", "icd11.foundation:1653668765"]}
{"category": ["biolink:Disease"], "description": "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.", "id": "MONDO:0016505", "name": "Aldosterone-producing adrenal cortex adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APAC", "Pure APAC", "Pure aldosterone-producing adrenocortical carcinoma", "Pure aldosterone-secreting adrenocortical carcinoma", "aldosterone producing adrenal cortex adenoma", "aldosterone producing adrenal cortical adenoma", "aldosterone-producing adrenal cortex adenoma"], "xref": ["EFO:1000015", "GARD:0020621", "MEDGEN:353374", "MedDRA:10056950", "NCIT:C48451", "Orphanet:231625", "UMLS:C1706762"]}
{"category": ["biolink:Disease"], "description": "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.", "id": "MONDO:0016506", "name": "Ectopic aldosterone-producing tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Extra-adrenal aldosterone-producing tumor", "Extra-adrenal aldosterone-producing tumour"], "xref": ["GARD:0020622", "MEDGEN:1654612", "Orphanet:231632", "UMLS:C4755311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016509", "name": "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MPPC syndrome"], "xref": ["GARD:0010938", "MEDGEN:1667341", "Orphanet:231736", "UMLS:C4751163"]}
{"category": ["biolink:Disease"], "description": "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.", "id": "MONDO:0016510", "name": "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020625", "MEDGEN:1808551", "Orphanet:231742", "UMLS:C5680927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016511", "name": "Infectious embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1736309", "Orphanet:232035", "UMLS:C5439342"]}
{"category": ["biolink:Disease"], "description": "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.", "id": "MONDO:0016512", "name": "Kabuki syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KMS", "Kabuki make-up syndrome", "Niikawa-Kuroki syndrome"], "xref": ["DOID:0060473", "GARD:0006810", "MEDGEN:162897", "MESH:C537705", "MedDRA:10063935", "NANDO:1200672", "NANDO:2200956", "NCIT:C124837", "NORD:1318", "OMIMPS:147920", "Orphanet:2322", "SCTID:313426007", "UMLS:C0796004", "icd11.foundation:1104246467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016514", "name": "Epidermolysis bullosa simplex with anodontia/hypodontia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gamborg-Nielsen syndrome", "Kallin syndrome"], "xref": ["GARD:0018766", "MEDGEN:609450", "Orphanet:2325", "UMLS:C0432313"]}
{"category": ["biolink:Disease"], "description": "Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.", "id": "MONDO:0016515", "name": "Kallmann syndrome-heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018767", "MEDGEN:928566", "Orphanet:2326", "UMLS:C4302897"]}
{"category": ["biolink:Disease"], "description": "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.", "id": "MONDO:0016516", "name": "Kenny-caffey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kenny syndrome"], "xref": ["DOID:0080724", "GARD:0016594", "ICD9:759.89", "MEDGEN:75560", "MESH:C537020", "NCIT:C130991", "NORD:1325", "OMIMPS:127000", "Orphanet:2333", "SCTID:82837002", "UMLS:C0265291"]}
{"category": ["biolink:Disease"], "description": "Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.", "id": "MONDO:0016521", "name": "Muscular pseudohypertrophy-hypothyroidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0008270", "MEDGEN:82860", "Orphanet:2349", "SCTID:716338001", "UMLS:C0270958"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.", "id": "MONDO:0016522", "name": "Kousseff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["sacral meningocele-conotruncal heart defects syndrome"], "xref": ["GARD:0004752", "MEDGEN:444057", "MESH:C537223", "Orphanet:2351", "SCTID:726083008", "UMLS:C2931444"]}
{"category": ["biolink:Disease"], "description": "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.", "id": "MONDO:0016523", "name": "Bronchogenic cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bronchogenic cyst", "bronchogenic cyst (disease)"], "xref": ["GARD:0001025", "HP:0100730", "MEDGEN:668", "MESH:D001994", "MedDRA:10064585", "Orphanet:2357", "UMLS:C0006281", "icd11.foundation:355400995"]}
{"category": ["biolink:Disease"], "description": "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.", "id": "MONDO:0016525", "name": "Familial hyperaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["FH", "genetic hyperaldosteronism", "hereditary hyperaldosteronism"], "xref": ["DOID:0061247", "GARD:0020630", "MEDGEN:780028", "MESH:C580087", "NANDO:2200602", "NCIT:C127160", "OMIMPS:103900", "Orphanet:235936", "Orphanet:371861", "SCTID:703231005", "UMLS:C3713420", "icd11.foundation:1586992015"]}
{"category": ["biolink:Disease"], "description": "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.", "id": "MONDO:0016526", "name": "Trisomy 9p", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["9p duplication", "9p trisomy", "Duplication 9p", "Duplication of the short arm of chromosome 9", "chromosome 9p duplication", "partial duplication of chromosome 9p", "partial duplication of the short arm of chromosome 9", "partial trisomy 9p", "partial trisomy of chromosome 9p", "partial trisomy of the short arm of chromosome 9", "partial trisomy of the short arm of chromosome type 9", "trisomy of the short arm of chromosome 9", "trisomy type 9p"], "xref": ["GARD:0020866", "MEDGEN:120539", "Orphanet:236", "Orphanet:262767", "UMLS:C0265428", "icd11.foundation:1126301219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016527", "name": "Glycogen storage disease due to lactate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to lactate dehydrogenase deficiency", "LDH deficiency", "glycogenosis due to lactate dehydrogenase deficiency"], "xref": ["GARD:0003159", "MEDGEN:1805539", "MESH:C580233", "Orphanet:2364", "UMLS:C5575057", "icd11.foundation:1092207912"]}
{"category": ["biolink:Disease"], "description": "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.", "id": "MONDO:0016528", "name": "Limb body wall complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LBWC syndrome"], "xref": ["GARD:0003251", "MEDGEN:906212", "Orphanet:2369", "SCTID:716106000", "UMLS:C4274839", "icd11.foundation:353005375"]}
{"category": ["biolink:Disease"], "description": "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.", "id": "MONDO:0016529", "name": "Duplication of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001975", "ICD9:753.8", "MEDGEN:75609", "Orphanet:237", "SCTID:69015003", "UMLS:C0266348", "icd11.foundation:2069509755"]}
{"category": ["biolink:Disease"], "description": "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.", "id": "MONDO:0016530", "name": "Laryngocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003191", "ICD10CM:Q31.3", "ICD9:748.3", "MEDGEN:452345", "MESH:D059608", "MedDRA:10023885", "NCIT:C97062", "Orphanet:2372", "SCTID:51523009", "UMLS:C0265761", "icd11.foundation:360056769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016531", "name": "Digestive duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0018684", "MEDGEN:451018", "Orphanet:238", "UMLS:C0266019"]}
{"category": ["biolink:Disease"], "description": "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.", "id": "MONDO:0016532", "name": "Lennox-gastaut syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGS"], "xref": ["DOID:0050561", "GARD:0009912", "ICD10CM:G40.81", "MEDGEN:116044", "MESH:D065768", "MedDRA:10048816", "NANDO:1200591", "NANDO:2200879", "NCIT:C84816", "NORD:1358", "OMIM:606369", "Orphanet:2382", "SCTID:230418006", "UMLS:C0238111", "icd11.foundation:651135242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016533", "name": "Apolipoprotein a-ii amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AApoAII amyloidosis", "familial amyloid nephropathy due to apolipoprotein A-II variant", "familial renal amyloidosis due to apolipoprotein A-II variant", "hereditary amyloid nephropathy due to apolipoprotein A-II variant", "hereditary renal amyloidosis due to apolipoprotein A-II variant"], "xref": ["GARD:0020631", "MEDGEN:1842484", "Orphanet:238269", "UMLS:C5679845"]}
{"category": ["biolink:Disease"], "description": "A hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.", "id": "MONDO:0016534", "name": "Infundibulo-neurohypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020632", "MEDGEN:1683829", "Orphanet:238305", "UMLS:C5190834"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).", "id": "MONDO:0016535", "name": "Hypohidrotic ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HED", "anhidrotic ectodermal dysplasia", "anhidrotic ectodermal dysplasia 1", "anhidrotic ectodermal dysplasia 3", "ectodermal dysplasia 1, Anhydrotic", "hypohidrotic X-linked ectodermal dysplasia"], "xref": ["DOID:14793", "GARD:0000076", "HP:0007607", "MEDGEN:1853123", "NANDO:2201005", "NCIT:C84562", "NORD:1272", "Orphanet:238468", "UMLS:C5848103", "icd11.foundation:673167184"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).", "id": "MONDO:0016537", "name": "Lymphoproliferative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lymphoproliferative disorder", "lymphoproliferative syndrome"], "xref": ["DOID:0060704", "GARD:0020633", "MEDGEN:6162", "MESH:D008232", "NCIT:C9308", "OMIMPS:308240", "Orphanet:238510", "SCTID:277466009", "UMLS:C0024314"]}
{"category": ["biolink:Disease"], "description": "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).", "id": "MONDO:0016539", "name": "Atypical hypotonia-cystinuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atypical HCS"], "xref": ["GARD:0017175", "MEDGEN:1668791", "Orphanet:238523", "UMLS:C4755274", "icd11.foundation:1982772708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016540", "name": "Congenital secondary polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital secondary erythrocytosis"], "xref": ["GARD:0020635", "MEDGEN:1843354", "Orphanet:238536", "UMLS:C5679848"]}
{"category": ["biolink:Disease"], "description": "An instance of secondary polycythemia that is acquired during the lifetime of the individual.", "id": "MONDO:0016541", "name": "Acquired secondary polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["acquired secondary erythrocytosis", "acquired secondary polycythemia"], "xref": ["GARD:0020636", "Orphanet:238547"]}
{"category": ["biolink:Disease"], "description": "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.", "id": "MONDO:0016542", "name": "Il10-related early-onset inflammatory bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IL10-related early-onset IBD", "IL10-related early-onset inflammatory bowel disease", "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"], "xref": ["GARD:0013016", "MEDGEN:1661450", "NANDO:2200446", "Orphanet:238569", "UMLS:C4749850"]}
{"category": ["biolink:Disease"], "description": "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.", "id": "MONDO:0016543", "name": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperphenylalaninemia due to BH4 deficiency", "hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "non-phenylketonuric hyperphenylalaninemia"], "xref": ["GARD:0007751", "MEDGEN:199656", "NANDO:1200786", "NANDO:2200594", "NANDO:2201076", "Orphanet:238583", "SCTID:68528007", "UMLS:C0751436"]}
{"category": ["biolink:Disease"], "description": "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).", "id": "MONDO:0016544", "name": "Igg4-related mesenteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Mesenteric Panniculitis", "isolated mesenteric lipodystrophy", "lipomatous mesenteritis", "liposclerotic mesenteritis", "mesenteric lipogranuloma", "mesenteric panniculitis", "sclerosing mesenteritis"], "xref": ["GARD:0008169", "MEDGEN:75639", "Orphanet:238593", "SCTID:1092381000119100", "UMLS:C0267770", "icd11.foundation:1312565896"]}
{"category": ["biolink:Disease"], "description": "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.", "id": "MONDO:0016545", "name": "Leukoencephalopathy-palmoplantar keratoderma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003232", "MEDGEN:1652044", "Orphanet:2386", "UMLS:C4749769"]}
{"category": ["biolink:Disease"], "description": "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.", "id": "MONDO:0016546", "name": "Primary orthostatic tremor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["POT", "pot"], "xref": ["GARD:0008563", "MEDGEN:164206", "MESH:C536418", "NORD:1612", "Orphanet:238606", "SCTID:715902009", "UMLS:C0878578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016547", "name": "Beckwith-wiedemann syndrome due to nsd1 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0017178", "MEDGEN:1825953", "Orphanet:238613", "UMLS:C5680933"]}
{"category": ["biolink:Disease"], "description": "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.", "id": "MONDO:0016548", "name": "Megacystis-megaureter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["megaureter-megacystis syndrome"], "xref": ["GARD:0020638", "MEDGEN:609133", "Orphanet:238637", "SCTID:253904001", "UMLS:C0431752", "icd11.foundation:1872503107"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016549", "name": "Primary megaureter, adult-onset form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020639", "MEDGEN:1842492", "Orphanet:238642", "UMLS:C5680937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016550", "name": "Congenital primary megaureter, obstructed form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020640", "MEDGEN:1842695", "Orphanet:238646", "UMLS:C5680936", "icd11.foundation:342813504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016551", "name": "Congenital primary megaureter, refluxing form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020641", "MEDGEN:1842549", "Orphanet:238650", "UMLS:C5680935", "icd11.foundation:1229028805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016552", "name": "Congenital primary megaureter, nonrefluxing and unobstructed form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020642", "MEDGEN:1843330", "Orphanet:238654", "UMLS:C5680934", "icd11.foundation:1090144962"]}
{"category": ["biolink:Disease"], "description": "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.", "id": "MONDO:0016553", "name": "Isolated congenital hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nonsyndromic congenital hypogonadotropic hypogonadism"], "xref": ["GARD:0020643", "MEDGEN:1842176", "Orphanet:238666", "UMLS:C5679849"]}
{"category": ["biolink:Disease"], "description": "A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.", "id": "MONDO:0016554", "name": "Neonatal iodine exposure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020644", "MEDGEN:1669806", "Orphanet:238688", "UMLS:C4751432"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016555", "name": "Transient congenital hypothyroidism due to maternal factor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020645", "MEDGEN:1842783", "Orphanet:238696", "UMLS:C5680929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016556", "name": "Transient congenital hypothyroidism due to neonatal factor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020646", "MEDGEN:1842815", "Orphanet:238699", "UMLS:C5680930"]}
{"category": ["biolink:Disease"], "description": "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.", "id": "MONDO:0016557", "name": "Leukonychia totalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009759", "MEDGEN:1641555", "MESH:C535889", "Orphanet:2387", "SCTID:763792009", "UMLS:C4551625"]}
{"category": ["biolink:Disease"], "description": "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.", "id": "MONDO:0016558", "name": "Familial congenital mirror movements", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial congenital controlateral synkinesia", "familial congenital mirror movements", "hereditary congenital controlateral synkinesia", "hereditary congenital mirror movements", "isolated congenital controlateral synkinesia", "isolated congenital mirror movements"], "xref": ["DOID:0111153", "GARD:0012551", "MEDGEN:473166", "OMIMPS:157600", "Orphanet:238722", "SCTID:229247004", "UMLS:C0454455", "icd11.foundation:1966778637"]}
{"category": ["biolink:Disease"], "description": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.", "id": "MONDO:0016559", "name": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["megalocornea-spherophakia-secondary glaucoma syndrome"], "xref": ["GARD:0010942", "MEDGEN:1674483", "Orphanet:238763", "UMLS:C5190883"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016560", "name": "Ptosis-syndactyly-learning difficulties syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0025077", "Orphanet:238766"]}
{"category": ["biolink:Disease"], "description": "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.", "id": "MONDO:0016561", "name": "1q44 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(1)(q44)", "monosomy 1q44"], "xref": ["GARD:0010943", "MEDGEN:930209", "Orphanet:238769", "SCTID:719649004", "UMLS:C4304540"]}
{"category": ["biolink:Disease"], "description": "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.", "id": "MONDO:0016562", "name": "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSP-PAGF", "PSP-pure akinesia with gait freezing"], "xref": ["GARD:0020647", "MEDGEN:1843032", "Orphanet:240094", "UMLS:C5679851"]}
{"category": ["biolink:Disease"], "description": "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.", "id": "MONDO:0016563", "name": "Progressive supranuclear palsy-corticobasal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSP-CBS", "PSP-corticobasal syndrome"], "xref": ["GARD:0020648", "MEDGEN:1781130", "Orphanet:240103", "UMLS:C5548189"]}
{"category": ["biolink:Disease"], "description": "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.", "id": "MONDO:0016564", "name": "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PSP-AOS", "PSP-PNFA", "progressive supranuclear palsy-apraxia of speech syndrome"], "xref": ["GARD:0020649", "MEDGEN:1842806", "Orphanet:240112", "UMLS:C5679850"]}
{"category": ["biolink:Disease"], "description": "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.", "id": "MONDO:0016566", "name": "Loiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:13523", "EFO:1000729", "GARD:0003283", "ICD10CM:B74.3", "ICD9:125.2", "MEDGEN:6132", "MESH:D008118", "MedDRA:10024797", "NCIT:C34784", "Orphanet:2404", "SCTID:44250009", "UMLS:C0023968", "icd11.foundation:709184369"]}
{"category": ["biolink:Disease"], "description": "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.", "id": "MONDO:0016567", "name": "Locked-in syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cerebromedullospinal disconnection", "Locked In Syndrome", "locked-in state"], "xref": ["DOID:12697", "GARD:0006919", "ICD10CM:G83.5", "ICD9:344.81", "MEDGEN:7378", "MESH:D000080422", "MedDRA:10024792", "NORD:1376", "Orphanet:2406", "SCTID:38023001", "UMLS:C0023944", "icd11.foundation:17562655"]}
{"category": ["biolink:Disease"], "description": "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0016568", "name": "Lowe-kohn-cohen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["deafness-nephritis-ano-rectal malformation syndrome"], "xref": ["GARD:0001695", "MEDGEN:1646729", "MESH:C535996", "Orphanet:2408", "SCTID:766249007", "UMLS:C4707726", "icd11.foundation:2061193977"]}
{"category": ["biolink:Disease"], "description": "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).", "id": "MONDO:0016570", "name": "Primary pulmonary lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018770", "MEDGEN:903876", "MedDRA:10037418", "Orphanet:2420", "SCTID:718200007", "UMLS:C4273669", "icd11.foundation:1042489672"]}
{"category": ["biolink:Disease"], "description": "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.", "id": "MONDO:0016571", "name": "Macrocephaly-short stature-paraplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Volcke Soekarman syndrome", "Volcke-Soekarman syndrome", "macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations"], "xref": ["GARD:0000172", "MEDGEN:419845", "MESH:C537718", "Orphanet:2427", "SCTID:722033000", "UMLS:C2931595"]}
{"category": ["biolink:Disease"], "description": "Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.", "id": "MONDO:0016572", "name": "Central bilateral macrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025078", "MEDGEN:929618", "Orphanet:2431", "SCTID:720632004", "UMLS:C4303949", "icd11.foundation:67804763"]}
{"category": ["biolink:Disease"], "description": "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.", "id": "MONDO:0016573", "name": "Acute fatty liver of pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AFLP"], "xref": ["GARD:0009578", "MEDGEN:264102", "MESH:C537957", "MedDRA:10000746", "Orphanet:243367", "SCTID:716379000", "UMLS:C1455728", "icd11.foundation:1226221530"]}
{"category": ["biolink:Disease"], "description": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.", "id": "MONDO:0016574", "name": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Westerhof-Beemer-Cormane syndrome"], "xref": ["GARD:0003347", "MEDGEN:371988", "MESH:C537836", "OMIM:154000", "Orphanet:2435", "SCTID:733469003", "UMLS:C1835172"]}
{"category": ["biolink:Disease"], "description": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).", "id": "MONDO:0016575", "name": "Primary ciliary dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kartagener syndrome", "Kartagener's syndrome", "PCD"], "xref": ["DOID:0050144", "DOID:9562", "GARD:0004484", "MEDGEN:3467", "MESH:D002925", "MESH:D007619", "MedDRA:10069713", "NANDO:2100034", "NANDO:2200203", "NANDO:2200204", "NCIT:C84797", "NORD:1605", "OMIMPS:244400", "Orphanet:244", "SCTID:42402006", "SCTID:86204009", "UMLS:C0008780", "icd11.foundation:1713839459"]}
{"category": ["biolink:Disease"], "description": "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.", "id": "MONDO:0016576", "name": "Split hand-foot malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FEWER digits", "SHFM", "Split Hand/Split Foot Malformation", "ectrodactyly", "split hand foot malformation", "split-hand/foot malformation"], "xref": ["DOID:0090020", "GARD:0006319", "MEDGEN:78566", "NCIT:C75000", "NORD:1731", "OMIMPS:183600", "Orphanet:2440", "SCTID:81208006", "UMLS:C0265554"]}
{"category": ["biolink:Disease"], "description": "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.", "id": "MONDO:0016577", "name": "Biliary atresia with splenic malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BASM syndrome"], "xref": ["GARD:0020652", "MEDGEN:907806", "Orphanet:244283", "SCTID:717156002", "UMLS:C4274029"]}
{"category": ["biolink:Disease"], "description": "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.", "id": "MONDO:0016580", "name": "Congenital pulmonary airway malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCAM", "CPAM", "congenital cystic adenomatoid malformation of lung", "congenital cystic adenomatoid malformation of the lung", "congenital cystic adenomatous malformation of the lung", "congenital cystic disease of the lung"], "xref": ["GARD:0018772", "MEDGEN:8225", "MESH:D015615", "NCIT:C98892", "Orphanet:2444", "SCTID:111318005", "UMLS:C0010668", "icd11.foundation:2091138945"]}
{"category": ["biolink:Disease"], "description": "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).", "id": "MONDO:0016581", "name": "Conotruncal heart malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Taussig-Bing syndrome or defect", "conotruncal heart malformations", "conotruncal heart malformations, variable"], "xref": ["GARD:0008189", "ICD9:747.11", "MEDGEN:341803", "NANDO:2200275", "OMIM:217095", "Orphanet:2445", "SCTID:218728005", "UMLS:C1857586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016582", "name": "Congenital mitral malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0001495", "MEDGEN:1842184", "Orphanet:2447", "UMLS:C5680882"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016583", "name": "Stalker-Chitayat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Stalker-Chitayat syndrome"], "xref": ["Orphanet:2454"]}
{"category": ["biolink:Disease"], "description": "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.", "id": "MONDO:0016584", "name": "Mandibuloacral dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAD", "mandibuloacral dysplasia with lipodystrophy"], "xref": ["DOID:0081127", "GARD:0011893", "MEDGEN:98485", "NORD:1398", "OMIMPS:248370", "Orphanet:2457", "UMLS:C0432291", "icd11.foundation:1687046570"]}
{"category": ["biolink:Disease"], "description": "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.", "id": "MONDO:0016586", "name": "Systemic mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["systemic mastocytosis", "systemic tissue Mast cell disease", "systemic tissue mast cell disease"], "xref": ["DOID:349", "GARD:0008616", "ICD10CM:D47.02", "MEDGEN:67436", "MedDRA:10042949", "NCIT:C9235", "ONCOTREE:SM", "Orphanet:2467", "SCTID:397016004", "UMLS:C0221013", "icd11.foundation:1144812971"]}
{"category": ["biolink:Disease"], "description": "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.", "id": "MONDO:0016587", "name": "Arrhythmogenic right ventricular cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ARVD", "arrhythmogenic RVD", "arrhythmogenic right ventricular cardiomyopathy", "arrhythmogenic right ventricular dysplasia", "right ventricular dysplasia"], "xref": ["DOID:0050431", "GARD:0005847", "ICD9:425.4", "MEDGEN:87618", "MESH:D019571", "MedDRA:10058093", "NANDO:2100055", "NANDO:2200230", "NCIT:C84571", "Orphanet:247", "SCTID:281170005", "UMLS:C0349788", "icd11.foundation:1931494126"]}
{"category": ["biolink:Disease"], "description": "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.", "id": "MONDO:0016588", "name": "Infantile mercury poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Feer disease", "Swift disease", "Swift-Feer disease", "erythroedema polyneuritis", "infantile acrodynia", "infantile mercury intoxication", "pink disease"], "xref": ["GARD:0020653", "MESH:D000170", "Orphanet:247165", "SCTID:66695004"]}
{"category": ["biolink:Disease"], "description": "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.", "id": "MONDO:0016591", "name": "Sporadic adult-onset ataxia of unknown etiology", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SAOA", "idiopathic late-onset cerebellar ataxia"], "xref": ["GARD:0020654", "MEDGEN:1383968", "Orphanet:247234", "SCTID:734023003", "UMLS:C4518339"]}
{"category": ["biolink:Disease"], "description": "A type of ataxia that is acquired during the lifetime of the individual.", "id": "MONDO:0016593", "name": "Acquired ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired ataxia"], "xref": ["GARD:0020656", "MEDGEN:927781", "Orphanet:247242", "SCTID:722968003", "UMLS:C4302112", "icd11.foundation:71197968"]}
{"category": ["biolink:Disease"], "description": "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.", "id": "MONDO:0016594", "name": "Superficial siderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hemosiderosis of the central nervous system", "superficial hemosiderosis of the CNS", "superficial hemosiderosis of the central nervous system", "superficial siderosis of the CNS", "superficial siderosis of the central nervous system"], "xref": ["GARD:0009484", "MEDGEN:1371500", "NANDO:1200543", "Orphanet:247245", "UMLS:C2938918"]}
{"category": ["biolink:Disease"], "description": "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.", "id": "MONDO:0016595", "name": "Inhalational anthrax", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["inhalation anthrax disease", "pulmonary anthrax", "respiratory anthrax", "respiratory anthrax disease"], "xref": ["DOID:0050160", "GARD:0020657", "ICD10CM:A22.1", "ICD9:022.1", "MEDGEN:57841", "MESH:C571912", "MedDRA:10035667", "Orphanet:247257", "SCTID:11389007", "UMLS:C0155866"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016596", "name": "Hyperphosphatasia-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPMR", "Mabry syndrome", "hyperphosphatasia with intellectual disability syndrome", "hyperphosphatasia with mental retardation syndrome"], "xref": ["DOID:0070431", "GARD:0017188", "MEDGEN:383800", "OMIMPS:239300", "Orphanet:247262", "SCTID:33982008", "UMLS:C1855923"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016598", "name": "Autosomal recessive secondary polycythemia not associated with vhl gene", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive secondary erythrocytosis not associated with VHL gene", "autosomal recessive secondary erythrocytosis, non-Chuvash type", "autosomal recessive secondary polycythemia, non-Chuvash type"], "xref": ["GARD:0020658", "Orphanet:247378"]}
{"category": ["biolink:Disease"], "description": "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.", "id": "MONDO:0016600", "name": "Acute neonatal citrullinemia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["acute neonatal citrullinemia type 1", "classic citrullinemia type 1", "classic citrullinemia type I"], "xref": ["GARD:0020659", "MEDGEN:1843387", "NANDO:2201094", "Orphanet:247546", "UMLS:C5679618"]}
{"category": ["biolink:Disease"], "description": "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.", "id": "MONDO:0016601", "name": "Adult-onset citrullinemia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["adult-onset citrullinemia type 1", "late-onset citrullinemia type 1", "late-onset citrullinemia type I"], "xref": ["GARD:0020660", "MEDGEN:541357", "NANDO:2201095", "Orphanet:247573", "UMLS:C0268546"]}
{"category": ["biolink:Disease"], "description": "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).", "id": "MONDO:0016602", "name": "Citrin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["citrin deficiency"], "xref": ["GARD:0020661", "MEDGEN:372684", "NANDO:1200978", "NANDO:2200483", "Orphanet:247582", "SCTID:429735007", "UMLS:C1997910", "icd11.foundation:348535193"]}
{"category": ["biolink:Disease"], "description": "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.", "id": "MONDO:0016603", "name": "Citrullinemia type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTLN2", "adult-onset citrin deficiency", "adult-onset type 2 citrullinemia", "adult-onset type II citrullinemia", "citrullinemia type 2", "citrullinemia type II"], "xref": ["GARD:0010215", "MEDGEN:350276", "NANDO:1200980", "NCIT:C150603", "Orphanet:247585", "SCTID:716863007", "UMLS:C1863844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016604", "name": "Dysraphism-cleft lip/palate-limb reduction defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Medeira-Dennis-Donnai syndrome"], "xref": ["GARD:0003438", "MEDGEN:1809965", "Orphanet:2476", "UMLS:C5679624"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.", "id": "MONDO:0016605", "name": "Perinatal lethal hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HPPN", "perinatal lethal Rathburn disease", "perinatal lethal phosphoethanolaminuria"], "xref": ["GARD:0017191", "MEDGEN:392928", "Orphanet:247623", "UMLS:C2673477"]}
{"category": ["biolink:Disease"], "description": "A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. It can inherited via either autosomal dominant or autosomal recessive inheritance.", "id": "MONDO:0016607", "name": "Odontohypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HPPO", "odonto-HPP"], "xref": ["GARD:0017194", "MEDGEN:326709", "MESH:C564146", "NCIT:C131309", "Orphanet:247685", "SCTID:708672004", "UMLS:C1840322"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).", "id": "MONDO:0016608", "name": "Megalencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["macroencephaly", "megalencephaly", "megalencephaly (disease)"], "xref": ["GARD:0016601", "HP:0001355", "ICD10CM:Q04.5", "ICD9:742.4", "MEDGEN:65141", "MESH:D058627", "MedDRA:10050183", "SCTID:9740002", "UMLS:C0221355", "icd11.foundation:368780653"]}
{"category": ["biolink:Disease"], "description": "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.", "id": "MONDO:0016609", "name": "Inflammatory myopathy with abundant macrophages", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMAM", "imam"], "xref": ["GARD:0020663", "MEDGEN:1638939", "Orphanet:247718", "SCTID:766706007", "UMLS:C4707791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016610", "name": "Idiopathic eosinophilic myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic eosinophilia-associated myopathy"], "xref": ["GARD:0020664", "MEDGEN:1659844", "Orphanet:247724", "UMLS:C4755301"]}
{"category": ["biolink:Disease"], "description": "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.", "id": "MONDO:0016611", "name": "Lipoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["embryonic lipoma", "fetal lipoma", "foetal lipoma", "infantile lipoma"], "xref": ["GARD:0012015", "MEDGEN:220362", "MESH:D062689", "NCIT:C27483", "Orphanet:247762", "SCTID:400102008", "UMLS:C1260965", "icd11.foundation:581420938"]}
{"category": ["biolink:Disease"], "description": "X-linked form of cerebellar ataxia.", "id": "MONDO:0016612", "name": "X-linked cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["X-linked hereditary ataxia", "cerebellar ataxia, X-linked", "hereditary ataxia, X-linked"], "xref": ["DOID:0050953", "DOID:0111828", "GARD:0020665", "Orphanet:247765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016613", "name": "Apc-related attenuated familial adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["APC-related AFAP", "APC-related attenuated FAP", "APC-related attenuated familial adenomatous polyposis", "APC-related attenuated familial polyposis coli"], "xref": ["GARD:0017197", "Orphanet:247806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016614", "name": "Autosomal recessive ataxia due to pex10 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mild peroxismal disorder due to PEX10 deficiency"], "xref": ["GARD:0020666", "MEDGEN:1843173", "Orphanet:247815", "UMLS:C5679614"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016615", "name": "Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["oligoarticular JIA with anti-nuclear antibodies", "pauciarticular chronic arthritis with anti-nuclear antibodies"], "xref": ["GARD:0025079", "Orphanet:247839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016616", "name": "Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["oligoarticular JIA without anti-nuclear antibodies", "pauciarticular chronic arthritis without anti-nuclear antibodies"], "xref": ["GARD:0025080", "Orphanet:247846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016617", "name": "Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies", "polyarthritis without rheumatoid factor with anti-nuclear antibodies", "rheumatoid factor-negative JIA with anti-nuclear antibodies"], "xref": ["GARD:0025081", "Orphanet:247854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016618", "name": "Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies", "polyarthritis without rheumatoid factor without anti-nuclear antibodies", "rheumatoid factor-negative JIA without anti-nuclear antibodies"], "xref": ["GARD:0025082", "Orphanet:247861"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.", "id": "MONDO:0016619", "name": "Autosomal recessive hypohidrotic ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AR-HED", "autosomal recessive anhidrotic ectodermal dysplasia", "hypohidrotic ectodermal dysplasia, autosomal recessive"], "xref": ["GARD:0002057", "MEDGEN:96067", "MESH:D053360", "NCIT:C84580", "Orphanet:248", "SCTID:27025001", "UMLS:C0406702", "icd11.foundation:7083042"]}
{"category": ["biolink:Disease"], "description": "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.", "id": "MONDO:0016620", "name": "Primary hypertrophic osteoarthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PDP", "PHO", "Touraine Solente Gole syndrome", "Touraine-Solente-Gole syndrome", "hypertrophic osteoarthropathy, primary", "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1", "hypertropic osteoarthropathy, primary", "idiopathic hypertrophic osteoarthropathy", "pachydermoperiostosis", "pachydermoperiostosis of nail [ambiguous]"], "xref": ["DOID:14283", "GARD:0020667", "MEDGEN:18210", "MESH:D010004", "MedDRA:10051686", "NANDO:1200642", "NANDO:2100288", "NANDO:2201004", "NCIT:C85023", "OMIMPS:259100", "Orphanet:248095", "Orphanet:2796", "SCTID:88220006", "UMLS:C0029411", "icd11.foundation:792225761"]}
{"category": ["biolink:Disease"], "description": "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.", "id": "MONDO:0016621", "name": "Juvenile huntington disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JHD", "juvenile Huntington chorea"], "xref": ["GARD:0010510", "MEDGEN:155518", "NCIT:C147072", "Orphanet:248111", "SCTID:230299004", "UMLS:C0751208"]}
{"category": ["biolink:Disease"], "description": "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.", "id": "MONDO:0016622", "name": "Melhem-fahl syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003462", "MEDGEN:444059", "MESH:C537238", "Orphanet:2482", "SCTID:732263008", "UMLS:C2931453", "icd11.foundation:999539082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016624", "name": "Hereditary anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["constitutional deficiency anemia", "constitutional rare deficiency anaemia", "constitutional rare deficiency anemia", "inherited deficiency anemia"], "xref": ["GARD:0020669", "MEDGEN:1842172", "Orphanet:248296", "UMLS:C5680695"]}
{"category": ["biolink:Disease"], "description": "An instance of deficiency anemia that is acquired during the lifetime of the individual.", "id": "MONDO:0016625", "name": "Acquired deficiency anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["rare acquired deficiency anaemia", "rare acquired deficiency anemia"], "xref": ["MEDGEN:1842907", "Orphanet:248302", "UMLS:C5680693"]}
{"category": ["biolink:Disease"], "description": "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.", "id": "MONDO:0016630", "name": "Isolated delta-storage pool disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated delta-SPD", "isolated dense-SPD", "isolated dense-storage pool disease"], "xref": ["GARD:0020674", "Orphanet:248340", "icd11.foundation:2133567182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016638", "name": "Familial hypodysfibrinogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017202", "MEDGEN:347987", "Orphanet:248408", "UMLS:C1859970"]}
{"category": ["biolink:Disease"], "description": "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.", "id": "MONDO:0016639", "name": "Lower limb deficiency-hypospadias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Fried-Goldberg-Mundel syndrome"], "xref": ["GARD:0018773", "MEDGEN:418952", "MESH:C535640", "Orphanet:2487", "UMLS:C2930962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016641", "name": "Limb transversal defect-cardiac anomaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hecht-Scott syndrome"], "xref": ["GARD:0025083", "MEDGEN:419705", "MESH:C535856", "Orphanet:2492", "UMLS:C2931047"]}
{"category": ["biolink:Disease"], "description": "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)", "id": "MONDO:0016642", "name": "Meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["meningioma", "meningioma (disease)"], "xref": ["DOID:3565", "GARD:0007015", "HP:0002858", "ICDO:9530/0", "MEDGEN:7532", "MESH:D008579", "MedDRA:10027191", "NANDO:2200094", "NCIT:C3230", "NORD:1434", "ONCOTREE:MNG", "Orphanet:2495", "SCTID:302820008", "UMLS:C0025286", "icd11.foundation:672106711"]}
{"category": ["biolink:Disease"], "description": "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.", "id": "MONDO:0016643", "name": "Frontonasal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["median cleft face syndrome"], "xref": ["DOID:0081044", "GARD:0002392", "MEDGEN:406292", "MESH:C538065", "NORD:1165", "OMIMPS:136760", "Orphanet:250", "SCTID:86610004", "UMLS:C1876203", "icd11.foundation:782645776"]}
{"category": ["biolink:Disease"], "description": "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.", "id": "MONDO:0016644", "name": "Logopenic progressive aphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LPA", "Logopenic primary progressive aphasia", "Logopenic variant PPA"], "xref": ["DOID:0081389", "GARD:0010791", "MEDGEN:907332", "Orphanet:250831", "SCTID:716380002", "UMLS:C4274665"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.", "id": "MONDO:0016646", "name": "Autosomal dominant optic atrophy and peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020686", "MEDGEN:895207", "Orphanet:250932", "UMLS:C4273829"]}
{"category": ["biolink:Disease"], "description": "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.", "id": "MONDO:0016648", "name": "Multiple epiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Dominant Multiple Epiphyseal Dysplasia", "EDM", "MED", "Polyepiphyseal dysplasia", "multiple epiphyseal dysplasia", "multiple epiphyseal dysplasia (disease)", "polyepiphyseal dysplasia"], "xref": ["DOID:12721", "GARD:0010756", "HP:0002654", "ICD9:756.56", "MEDGEN:6461", "MedDRA:10028197", "NORD:1468", "OMIMPS:132400", "Orphanet:251", "SCTID:59708000", "UMLS:C0026760", "icd11.foundation:2009123831"]}
{"category": ["biolink:Disease"], "description": "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.", "id": "MONDO:0016649", "name": "Warburg micro syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WARBM", "Warburg micro syndrome", "micro syndrome"], "xref": ["DOID:0060237", "GARD:0005534", "MEDGEN:1781286", "NORD:1898", "OMIMPS:600118", "Orphanet:2510", "UMLS:C5442005"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.", "id": "MONDO:0016650", "name": "Paternal uniparental disomy of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(1)pat", "paternal uniparental disomy of chromosome type 1"], "xref": ["GARD:0020688", "MEDGEN:1636519", "Orphanet:251004", "SCTID:766719006", "UMLS:C4707800", "icd11.foundation:1239235576"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.", "id": "MONDO:0016651", "name": "Maternal uniparental disomy of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(1)mat", "maternal uniparental disomy of chromosome type 1"], "xref": ["GARD:0020689", "MEDGEN:1665577", "Orphanet:251009", "UMLS:C4749302", "icd11.foundation:351448323"]}
{"category": ["biolink:Disease"], "description": "2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.", "id": "MONDO:0016652", "name": "2q31.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(2)(q31.1)", "monosomy 2q31.1"], "xref": ["GARD:0020690", "MEDGEN:899856", "Orphanet:251014", "SCTID:716387004", "UMLS:C4274647"]}
{"category": ["biolink:Disease"], "description": "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.", "id": "MONDO:0016653", "name": "2q33.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Del(2)(q33.1)", "monosomy 2q33.1"], "xref": ["DECIPHER:51", "GARD:0017204", "MEDGEN:1645054", "Orphanet:251028", "SCTID:763062006", "UMLS:C4706258"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).", "id": "MONDO:0016654", "name": "Ring chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type 5", "rose cluster 5"], "xref": ["GARD:0010841", "MEDGEN:881956", "NCIT:C121984", "Orphanet:251043", "SCTID:765487008", "UMLS:C4050064"]}
{"category": ["biolink:Disease"], "description": "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.", "id": "MONDO:0016655", "name": "6p22 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(6)(p22)", "monosomy 6p22"], "xref": ["GARD:0020691", "MEDGEN:930197", "Orphanet:251046", "SCTID:719662000", "UMLS:C4304528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016656", "name": "7q31 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(7)(q31)", "monosomy 7q31"], "xref": ["GARD:0020692", "MEDGEN:1664416", "Orphanet:251061", "UMLS:C4750783"]}
{"category": ["biolink:Disease"], "description": "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.", "id": "MONDO:0016657", "name": "8p11.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(8)(p11.2)", "monosomy 8p11.2"], "xref": ["GARD:0020693", "MEDGEN:930174", "Orphanet:251066", "SCTID:719646006", "UMLS:C4304505"]}
{"category": ["biolink:Disease"], "description": "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.", "id": "MONDO:0016658", "name": "8p23.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(8)(p23.1)", "monosomy 8p23.1"], "xref": ["DECIPHER:39", "GARD:0003769", "MEDGEN:419458", "MESH:C537827", "Orphanet:251071", "SCTID:716381003", "UMLS:C2931638"]}
{"category": ["biolink:Disease"], "description": "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).", "id": "MONDO:0016659", "name": "8p23.1 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(8)(p23.1p23.1)", "trisomy 8p23.1"], "xref": ["DECIPHER:85", "GARD:0010304", "MEDGEN:1645138", "Orphanet:251076", "SCTID:765140006", "UMLS:C4707330"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.", "id": "MONDO:0016660", "name": "Autosomal recessive primary microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MCPH", "microcephalia vera", "microcephaly vera", "microcephaly, primary autosomal recessive", "microcephaly, primary, autosomal recessive"], "xref": ["DOID:0070296", "GARD:0012117", "MEDGEN:777995", "MESH:C579935", "OMIMPS:251200", "Orphanet:2512", "SCTID:715981004", "UMLS:C3711387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016661", "name": "Infantile onset panniculitis with uveitis and systemic granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020694", "MEDGEN:1670295", "Orphanet:251304", "UMLS:C4750785", "icd11.foundation:1145994427"]}
{"category": ["biolink:Disease"], "description": "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.", "id": "MONDO:0016662", "name": "Idiopathic recurrent pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic relapsing pericarditis"], "xref": ["GARD:0020695", "MEDGEN:1642945", "Orphanet:251307", "SCTID:766704005", "UMLS:C4707790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016663", "name": "Overlapping connective tissue disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020696", "MedDRA:10027754", "Orphanet:251312"]}
{"category": ["biolink:Disease"], "description": "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.", "id": "MONDO:0016664", "name": "Drug-induced vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["drug induced cutaneous vasculitis", "drug induced vasculitis"], "xref": ["GARD:0020697", "MEDGEN:573879", "NCIT:C112204", "Orphanet:251325", "UMLS:C0340672", "icd11.foundation:1376183765", "icd11.foundation:395268449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016666", "name": "Unexplained long-lasting fever/inflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020699", "MEDGEN:1842329", "Orphanet:251332", "UMLS:C5679630"]}
{"category": ["biolink:Disease"], "description": "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.", "id": "MONDO:0016668", "name": "Sickle cell-beta-thalassemia disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hb S-Beta thalassemia", "HbS-beta-thalassemia syndrome", "S-Beta thalassemia", "sickle cell-Beta thalassemia", "sickle cell-Beta-thalassemia", "sickle cell-beta-thalassemia disease syndrome"], "xref": ["GARD:0010333", "MEDGEN:452211", "MedDRA:10040655", "MedDRA:10055579", "NCIT:C95539", "Orphanet:251359", "SCTID:127041004", "UMLS:C0221019"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.", "id": "MONDO:0016669", "name": "Sickle cell-hemoglobin c disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HbSC disease"], "xref": ["GARD:0006584", "MEDGEN:5496", "MedDRA:10057072", "Orphanet:251365", "UMLS:C0019034"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121GluGln.", "id": "MONDO:0016670", "name": "Sickle cell-hemoglobin d disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HbSD disease"], "xref": ["GARD:0012458", "MEDGEN:452366", "MedDRA:10056724", "Orphanet:251370", "UMLS:C0272084"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glulys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).", "id": "MONDO:0016671", "name": "Sickle cell-hemoglobin e disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["HbSE disease"], "xref": ["GARD:0020700", "MEDGEN:1669602", "Orphanet:251375", "UMLS:C1112747"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.", "id": "MONDO:0016672", "name": "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPFH-sickle cell disease syndrome"], "xref": ["GARD:0018648", "HGNC:3627", "HGNC:5153", "MEDGEN:1679967", "Orphanet:251380", "UMLS:C5190890"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.", "id": "MONDO:0016673", "name": "Localized junctional epidermolysis bullosa, non-herlitz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JEB-nH loc"], "xref": ["GARD:0012923", "MEDGEN:1814511", "Orphanet:251393", "UMLS:C5700116"]}
{"category": ["biolink:Disease"], "description": "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.", "id": "MONDO:0016674", "name": "46,xy partial gonadal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XY PGD", "46,XY partial testicular dysgenesis"], "xref": ["GARD:0017211", "MEDGEN:1388250", "Orphanet:251510", "SCTID:725045004", "UMLS:C4510744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016675", "name": "Distal arthrogryposis type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA10", "distal arthrogryposis type 10", "plantar flexion contracture", "short Achilles tendon", "short tendo calcaneus"], "xref": ["DOID:0111593", "GARD:0017212", "MEDGEN:349990", "MESH:C566069", "OMIM:187370", "Orphanet:251515", "SCTID:275336002", "UMLS:C1861238"]}
{"category": ["biolink:Disease"], "description": "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.", "id": "MONDO:0016677", "name": "Toxic or drug-related embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1843068", "MESH:D000014", "Orphanet:251529", "UMLS:C5680710", "icd11.foundation:293076727"]}
{"category": ["biolink:Disease"], "description": "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).", "id": "MONDO:0016680", "name": "High grade astrocytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["high grade astrocytic neoplasm", "high grade astrocytic tumor", "high-grade astrocytic neoplasm", "high-grade astrocytic tumor", "high-grade astrocytic tumour"], "xref": ["GARD:0020704", "MEDGEN:769639", "NCIT:C102897", "Orphanet:251561", "UMLS:C3640999"]}
{"category": ["biolink:Disease"], "description": "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).", "id": "MONDO:0016681", "name": "Gliosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["glioblastoma with a sarcomatous component", "gliosarcoma"], "xref": ["DOID:3071", "EFO:1001465", "GARD:0005653", "ICDO:9442/3", "MEDGEN:64638", "MESH:D018316", "MedDRA:10018340", "NCIT:C3796", "ONCOTREE:GSARC", "Orphanet:251576", "UMLS:C0206726"]}
{"category": ["biolink:Disease"], "description": "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)", "id": "MONDO:0016682", "name": "Giant cell glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Monstrocellular sarcoma [obs]"], "xref": ["DOID:3074", "GARD:0020705", "ICDO:9441/3", "MEDGEN:83169", "NCIT:C4325", "Orphanet:251579", "UMLS:C0334588", "icd11.foundation:565094124"]}
{"category": ["biolink:Disease"], "description": "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)", "id": "MONDO:0016683", "name": "Gliomatosis cerebri", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["astrocytosis cerebri", "gliomatosis", "gliomatosis cerebri", "gliomatosis cerebri (morphologic abnormality)"], "xref": ["DOID:6128", "GARD:0006514", "ICDO:9381/3", "MEDGEN:87267", "MedDRA:10066254", "NCIT:C4318", "Orphanet:251582", "UMLS:C0334576", "icd11.foundation:373131154"]}
{"category": ["biolink:Disease"], "description": "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.", "id": "MONDO:0016684", "name": "Anaplastic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic astrocytoma", "astrocytoma, anaplastic, malignant", "grade III astrocytic neoplasm", "grade III astrocytic tumor", "grade III astrocytic tumour", "grade III astrocytoma", "malignant astrocytoma"], "xref": ["DOID:3078", "EFO:0002499", "GARD:0005860", "ICDO:9401/3", "MEDGEN:137784", "MedDRA:10002224", "MedDRA:10060971", "NANDO:2200086", "NCIT:C9477", "NORD:769", "ONCOTREE:AASTR", "Orphanet:251589", "UMLS:C0334579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016685", "name": "Low-grade astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020706", "MEDGEN:727259", "MedDRA:10065869", "Orphanet:251592", "UMLS:C1314694"]}
{"category": ["biolink:Disease"], "description": "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.", "id": "MONDO:0016686", "name": "Diffuse astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["WHO grade II astrocytoma", "astrocytoma, diffuse", "astrocytoma, diffuse, malignant", "diffuse astrocytoma", "grade II astrocytic neoplasm", "grade II astrocytic tumor", "grade II astrocytic tumour", "grade II astrocytoma"], "xref": ["DOID:4857", "GARD:0005907", "MEDGEN:83708", "NANDO:2200085", "NCIT:C7173", "ONCOTREE:DASTR", "Orphanet:251595", "UMLS:C0280785"]}
{"category": ["biolink:Disease"], "description": "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)", "id": "MONDO:0016687", "name": "Protoplasmic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["protoplasmic astrocytic tumour", "protoplasmic astrocytoma", "protoplasmic astrocytoma (morphologic abnormality)"], "xref": ["DOID:7008", "GARD:0020707", "ICDO:9410/3", "MEDGEN:87268", "NCIT:C4320", "Orphanet:251598", "UMLS:C0334580"]}
{"category": ["biolink:Disease"], "description": "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)", "id": "MONDO:0016688", "name": "Fibrillary astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["fibrillary astrocytic tumours", "fibrillary astrocytoma"], "xref": ["DOID:6726", "GARD:0020708", "ICDO:9420/3", "MEDGEN:87270", "MedDRA:10065889", "NCIT:C4322", "Orphanet:251601", "UMLS:C0334582"]}
{"category": ["biolink:Disease"], "description": "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)", "id": "MONDO:0016689", "name": "Gemistocytic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Gemistocytoma", "gemistocytic astrocytic tumour", "gemistocytic astrocytoma", "gemistocytic astrocytoma (morphologic abnormality)"], "xref": ["DOID:7005", "GARD:0020709", "ICDO:9411/3", "MEDGEN:87269", "NCIT:C4321", "Orphanet:251604", "UMLS:C0334581"]}
{"category": ["biolink:Disease"], "description": "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.", "id": "MONDO:0016690", "name": "Pleomorphic xanthoastrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PXA", "pleomorphic Xantho-astrocytoma"], "xref": ["DOID:4852", "GARD:0010631", "ICDO:9424/3", "MEDGEN:137786", "NCIT:C4323", "ONCOTREE:PXA", "Orphanet:251607", "UMLS:C0334586"]}
{"category": ["biolink:Disease"], "description": "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.", "id": "MONDO:0016691", "name": "Pilocytic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma, benign", "astrocytoma, pilocytic, benign", "grade I astrocytic neoplasm", "grade I astrocytic tumor", "grade I astrocytic tumour", "grade I astrocytoma", "pilocytic astrocytoma"], "xref": ["DOID:4851", "GARD:0009808", "ICDO:9421/1", "MEDGEN:87271", "NANDO:2200084", "NCIT:C4047", "ONCOTREE:PAST", "Orphanet:251612", "SCTID:763865009", "UMLS:C0334583"]}
{"category": ["biolink:Disease"], "description": "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.", "id": "MONDO:0016692", "name": "Pilomyxoid astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:4845", "GARD:0020710", "ICDO:9425/3", "MEDGEN:276757", "NCIT:C40315", "ONCOTREE:PMA", "Orphanet:251615", "UMLS:C1519086"]}
{"category": ["biolink:Disease"], "description": "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)", "id": "MONDO:0016693", "name": "Subependymal giant cell astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEGA", "subependymal giant cell astrocytic neoplasm", "subependymal giant cell astrocytic tumor", "subependymal giant cell astrocytic tumour", "subependymal giant cell astrocytoma (morphologic abnormality)"], "xref": ["DOID:5077", "GARD:0010632", "ICDO:9384/1", "MEDGEN:61446", "NCIT:C3696", "Orphanet:251618", "SCTID:449799008", "UMLS:C0205768"]}
{"category": ["biolink:Disease"], "description": "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)", "id": "MONDO:0016695", "name": "Oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade II oligodendroglial neoplasm", "WHO grade II oligodendroglial tumor", "WHO grade II oligodendroglial tumour", "oligodendroglioma", "well differentiated oligodendroglial tumor", "well differentiated oligodendroglial tumour", "well differentiated oligodendroglioma"], "xref": ["DOID:3181", "EFO:0000632", "GARD:0009953", "ICDO:9450/3", "MEDGEN:45190", "MESH:D009837", "MedDRA:10030286", "NANDO:2200089", "NCIT:C3288", "ONCOTREE:ODG", "Orphanet:251627", "UMLS:C0028945"]}
{"category": ["biolink:Disease"], "description": "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).", "id": "MONDO:0016696", "name": "Anaplastic oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade III oligodendroglial neoplasm", "WHO grade III oligodendroglial tumor", "WHO grade III oligodendroglial tumour", "anaplastic oligodendroglioma", "malignant oligodendroglioma", "oligodendroglioma, anaplastic, malignant", "oligodendroglioma, malignant", "undifferentiated oligodendroglioma"], "xref": ["DOID:7154", "EFO:0002501", "GARD:0009472", "ICDO:9451/3", "MEDGEN:90812", "MedDRA:10026659", "NCIT:C4326", "ONCOTREE:AODG", "Orphanet:251630", "UMLS:C0334590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016697", "name": "Low grade ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "xref": ["Orphanet:251633", "icd11.foundation:641455939"]}
{"category": ["biolink:Disease"], "description": "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)", "id": "MONDO:0016698", "name": "Ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_histopathological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["benign ependymoma", "ependymoma"], "xref": ["DOID:4844", "EFO:1000028", "GARD:0006353", "ICDO:9391/3", "MEDGEN:41825", "MESH:D004806", "MedDRA:10014967", "NANDO:2200088", "NCIT:C3017", "ONCOTREE:EPM", "Orphanet:251636", "UMLS:C0014474"]}
{"category": ["biolink:Disease"], "description": "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.", "id": "MONDO:0016699", "name": "Myxopapillary ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_histopathological_subtype", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ependymoma, benign", "myxopapillary ependymoma", "myxopapillary ependymoma (morphologic abnormality)"], "xref": ["DOID:5075", "GARD:0010633", "ICDO:9394/1", "MEDGEN:104717", "NCIT:C3697", "ONCOTREE:MPE", "Orphanet:251643", "UMLS:C0205769"]}
{"category": ["biolink:Disease"], "description": "Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.", "id": "MONDO:0016700", "name": "Anaplastic ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade III ependymal neoplasm", "WHO grade III ependymal tumor", "WHO grade III ependymal tumour", "anaplastic ependymal neoplasm", "anaplastic ependymal tumor", "anaplastic ependymal tumour", "anaplastic ependymoma", "ependymoma, anaplastic, malignant", "ependymoma, malignant", "high-grade ependymoma", "malignant ependymoma", "undifferentiated ependymal neoplasm", "undifferentiated ependymal tumor", "undifferentiated ependymal tumour", "undifferentiated ependymoma"], "xref": ["DOID:5074", "DOID:5889", "GARD:0010634", "ICDO:9392/3", "MEDGEN:128891", "MedDRA:10014968", "NCIT:C4049", "ONCOTREE:APE", "Orphanet:251646", "UMLS:C0280788"]}
{"category": ["biolink:Disease"], "description": "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)", "id": "MONDO:0016702", "name": "Oligoastrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOA", "WHO grade II mixed glioma", "glioma, mixed, benign", "mixed astrocytic-oligodendroglial neoplasm", "mixed astrocytic-oligodendroglial tumor", "mixed astrocytic-oligodendroglial tumour", "mixed astrocytoma-oligodendroglioma", "mixed oligo-astrocytoma", "mixed oligoastrocytoma", "mixed oligodendroglioma-astrocytoma", "oligoastrocytoma"], "xref": ["DOID:7912", "EFO:0000630", "GARD:0009769", "MEDGEN:154285", "MedDRA:10027744", "NCIT:C4050", "ONCOTREE:OAST", "Orphanet:251656", "SCTID:716647001", "UMLS:C0547065"]}
{"category": ["biolink:Disease"], "description": "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.", "id": "MONDO:0016703", "name": "Anaplastic oligoastrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade III mixed glioma", "aMOA", "anaplastic mixed glioma", "anaplastic oligoastrocytoma"], "xref": ["EFO:0002500", "GARD:0010637", "MEDGEN:96556", "NCIT:C6959", "ONCOTREE:AOAST", "Orphanet:251663", "UMLS:C0431108"]}
{"category": ["biolink:Disease"], "description": "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.", "id": "MONDO:0016705", "name": "Angiocentric glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Monomorphus angiocentric glioma", "angiocentric glioma (WHO grade I)", "angiocentric neuroepithelial tumor", "angiocentric neuroepithelial tumour"], "xref": ["DOID:0081261", "GARD:0020714", "ICDO:9431/1", "MEDGEN:453267", "NCIT:C92552", "ONCOTREE:ANGL", "Orphanet:251671", "UMLS:C2363903"]}
{"category": ["biolink:Disease"], "description": "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.", "id": "MONDO:0016706", "name": "Chordoid glioma of the third ventricle", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chordoid glioma", "chordoid glioma (morphologic abnormality)", "chordoid glioma of 3rd ventricle", "chordoid glioma of the 3rd ventricle", "chordoid glioma of the third ventricle", "chordoid glioma of the third ventricle (WHO grade II)", "chordoid glioma of third ventricle", "third ventricle chordoid glioma"], "xref": ["DOID:3773", "DOID:3774", "GARD:0020715", "ICDO:9444/1", "MEDGEN:232956", "NCIT:C5592", "ONCOTREE:CHGL", "Orphanet:251674", "SCTID:715900001", "UMLS:C1322252"]}
{"category": ["biolink:Disease"], "description": "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.", "id": "MONDO:0016707", "name": "Astroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["astroblastoma", "astroblastoma (morphologic abnormality)"], "xref": ["DOID:7305", "GARD:0010635", "ICDO:9430/3", "MEDGEN:90811", "NCIT:C4324", "ONCOTREE:ASTB", "Orphanet:251679", "UMLS:C0334587", "icd11.foundation:2011571705", "icd11.foundation:96344074"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.", "id": "MONDO:0016709", "name": "Anaplastic/large cell medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["large cell/anaplastic medulloblastoma"], "xref": ["GARD:0020717", "MEDGEN:1389864", "NCIT:C129436", "ONCOTREE:AMBL", "Orphanet:251855", "UMLS:C4330531"]}
{"category": ["biolink:Disease"], "description": "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.", "id": "MONDO:0016710", "name": "Medulloblastoma with extensive nodularity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MBEN", "cerebellar neuroblastoma", "medulloblastoma with extensive nodularity", "medulloblastoma with extensive nodularity and advanced neuronal differentiation", "nodular medulloblastoma"], "xref": ["DOID:3873", "GARD:0017214", "ICDO:9471/3", "MEDGEN:233759", "NCIT:C5407", "ONCOTREE:MBEN", "Orphanet:251858", "UMLS:C1334970"]}
{"category": ["biolink:Disease"], "description": "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.", "id": "MONDO:0016711", "name": "Desmoplastic/nodular medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Desmoplastic medulloblastoma", "desmoplastic medulloblastoma", "desmoplastic nodular medulloblastoma", "desmoplastic/nodular medulloblastoma"], "xref": ["GARD:0017215", "ICDO:9471/3", "MEDGEN:148272", "NCIT:C4956", "ONCOTREE:DMBL", "Orphanet:251863", "UMLS:C0751291"]}
{"category": ["biolink:Disease"], "description": "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.", "id": "MONDO:0016712", "name": "Classic medulloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic medulloblastoma"], "xref": ["GARD:0017216", "MEDGEN:353541", "NCIT:C54039", "Orphanet:251867", "SCTID:699704002", "UMLS:C1707400", "icd11.foundation:1548011794"]}
{"category": ["biolink:Disease"], "description": "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.", "id": "MONDO:0016713", "name": "Central nervous system ewing sarcoma/peripheral primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor"], "xref": ["GARD:0020718", "MEDGEN:1389430", "MedDRA:10057846", "NCIT:C129537", "Orphanet:251870", "UMLS:C4329632"]}
{"category": ["biolink:Disease"], "description": "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.", "id": "MONDO:0016715", "name": "Ependymoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ETMR, C19MC-altered", "embryonal tumor with Multilayered Rosettes with C19MC amplification", "embryonal tumor with Multilayered Rosettes, C19MC-altered", "embryonal tumor with abundant neuropil and true Rosettes", "embryonal tumour with Multilayered Rosettes", "embryonal tumour with Multilayered Rosettes with C19MC amplification", "embryonal tumour with Multilayered Rosettes, C19MC-altered", "embryonal tumour with abundant neuropil and true Rosettes", "ependymoblastoma"], "xref": ["DOID:0080903", "DOID:4794", "GARD:0020720", "MEDGEN:152150", "MedDRA:10014966", "NCIT:C4915", "ONCOTREE:ETANTR", "Orphanet:251880", "SCTID:715901002", "UMLS:C0700367"]}
{"category": ["biolink:Disease"], "description": "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.", "id": "MONDO:0016717", "name": "Choroid plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["choroid plexus neoplasm", "choroid plexus tumor", "choroid plexus tumour", "neoplasm of choroid plexus", "neoplasm of the choroid plexus", "tumor of choroid plexus", "tumor of the choroid plexus", "tumour of choroid plexus", "tumour of the choroid plexus"], "xref": ["GARD:0020722", "MEDGEN:38980", "NCIT:C3473", "ONCOTREE:CPT", "Orphanet:251896", "SCTID:254942002", "UMLS:C0085138", "icd11.foundation:1959912502"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)", "id": "MONDO:0016718", "name": "Choroid plexus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anaplastic choroid plexus papilloma", "carcinoma of choroid plexus", "carcinoma of the choroid plexus", "carcinoma, choroid plexus, malignant", "choroid plexus carcinoma", "choroid plexus carcinoma (morphologic abnormality)"], "xref": ["DOID:5648", "GARD:0008238", "ICDO:9390/3", "MEDGEN:96557", "MESH:C562943", "MedDRA:10067478", "NCIT:C4715", "ONCOTREE:CPC", "Orphanet:251899", "SCTID:188292007", "UMLS:C0431109", "icd11.foundation:1128449352"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.", "id": "MONDO:0016719", "name": "Microcephaly-seizures-intellectual disability-heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018774", "MEDGEN:419830", "MESH:C537544", "Orphanet:2519", "UMLS:C2931529"]}
{"category": ["biolink:Disease"], "description": "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.", "id": "MONDO:0016722", "name": "Pineoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNET of pineal gland", "PNET of the pineal gland", "pineal PNET", "pineal gland PNET", "pineal gland primitive neuroectodermal neoplasm", "pineal gland primitive neuroectodermal tumor", "pineal gland primitive neuroectodermal tumour", "pineal primitive neuroectodermal neoplasm", "pineal primitive neuroectodermal tumor", "pineal primitive neuroectodermal tumour", "pineoblastoma", "pineoblastoma (WHO grade IV)", "pineoblastoma, malignant", "primitive neuroectodermal neoplasm of pineal gland", "primitive neuroectodermal neoplasm of the pineal gland", "primitive neuroectodermal tumor of pineal gland", "primitive neuroectodermal tumor of the pineal gland", "primitive neuroectodermal tumour of pineal gland", "primitive neuroectodermal tumour of the pineal gland"], "xref": ["DOID:1664", "EFO:1000475", "GARD:0009369", "ICDO:9362/3", "MEDGEN:104745", "MedDRA:10050487", "NCIT:C9344", "ONCOTREE:PBL", "Orphanet:251909", "UMLS:C0205898"]}
{"category": ["biolink:Disease"], "description": "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.", "id": "MONDO:0016723", "name": "Pineocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pineocytoma (WHO grade I)", "benign pinealoma", "pinealocytoma", "pineocytoma", "pineocytoma (disease)", "pineocytoma, benign"], "xref": ["DOID:0081248", "EFO:1000476", "GARD:0008207", "HP:0030407", "ICDO:9361/1", "MEDGEN:183004", "MedDRA:10035059", "NANDO:2200092", "NCIT:C6966", "ONCOTREE:PINC", "Orphanet:251912", "SCTID:255045009", "UMLS:C0917890", "icd11.foundation:2055142333"]}
{"category": ["biolink:Disease"], "description": "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.", "id": "MONDO:0016724", "name": "Papillary tumor of the pineal region", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PTPR"], "xref": ["DOID:0081251", "GARD:0020725", "ICDO:9395/3", "MEDGEN:457445", "NCIT:C92624", "ONCOTREE:PTPR", "Orphanet:251915", "UMLS:C2985219"]}
{"category": ["biolink:Disease"], "description": "Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.", "id": "MONDO:0016727", "name": "Extraventricular neurocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EVN", "extraventricular neurocytoma (WHO grade II)"], "xref": ["DOID:0081314", "GARD:0020727", "ICDO:9506/1", "MEDGEN:457401", "NCIT:C92555", "ONCOTREE:EVN", "Orphanet:251927", "SCTID:716787002", "UMLS:C2985175"]}
{"category": ["biolink:Disease"], "description": "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)", "id": "MONDO:0016729", "name": "Mixed neuronal-glial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["neuronal and Glio-neuronal neoplasm", "neuronal and Glio-neuronal tumor", "neuronal and Glio-neuronal tumour", "neuronal and mixed neuronal-glial tumor", "neuronal and mixed neuronal-glial tumors", "neuronal and mixed neuronal-glial tumour", "neuronal and mixed neuronal-glial tumours"], "xref": ["GARD:0020728", "MEDGEN:105377", "NCIT:C4747", "Orphanet:251934", "UMLS:C0474844", "icd11.foundation:1792897751"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.", "id": "MONDO:0016730", "name": "Gangliocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2426", "GARD:0010638", "ICDO:9492/0", "MEDGEN:1830324", "MESH:D005729", "NANDO:2200097", "NCIT:C6934", "ONCOTREE:GNC", "Orphanet:251937", "UMLS:C5779630"]}
{"category": ["biolink:Disease"], "description": "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.", "id": "MONDO:0016731", "name": "Desmoplastic infantile astrocytoma/ganglioglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DIA/DIG"], "xref": ["GARD:0020729", "MEDGEN:1665232", "Orphanet:251940", "UMLS:C4757951"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)", "id": "MONDO:0016733", "name": "Ganglioglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ganglioglioma"], "xref": ["DOID:5078", "EFO:0003094", "GARD:0002430", "ICDO:9505/1", "MEDGEN:60216", "MESH:D018303", "MedDRA:10017701", "NANDO:2200096", "NCIT:C3788", "ONCOTREE:GNG", "Orphanet:251949", "SCTID:87191000119100", "UMLS:C0206716", "icd11.foundation:1287417975"]}
{"category": ["biolink:Disease"], "description": "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)", "id": "MONDO:0016734", "name": "Anaplastic ganglioglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010639", "ICDO:9505/3", "MEDGEN:140906", "NCIT:C4717", "ONCOTREE:AGNG", "Orphanet:251957", "UMLS:C0431112"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.", "id": "MONDO:0016735", "name": "Papillary glioneuronal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PGNT", "papillary glioneuronal tumor (WHO grade I)", "papillary glioneuronal tumour (WHO grade I)", "pseudopapillary ganglioglioneurocytoma", "pseudopapillary neurocytoma with glial differentiation"], "xref": ["DOID:0081283", "GARD:0020730", "ICDO:9509/1", "MEDGEN:457400", "NCIT:C92554", "ONCOTREE:PGNT", "Orphanet:251962", "UMLS:C2985174"]}
{"category": ["biolink:Disease"], "description": "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.", "id": "MONDO:0016736", "name": "Rosette-forming glioneuronal tumor of fourth ventricule", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNT of the cerebellum", "RGNT", "dysembryoplastic neuroepithelial tumor of cerebellum", "dysembryoplastic neuroepithelial tumour of cerebellum", "rosette-forming glioneuronal tumor"], "xref": ["DOID:0081284", "GARD:0013593", "MEDGEN:1377578", "NCIT:C129431", "Orphanet:251975", "UMLS:C4331262"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)", "id": "MONDO:0016739", "name": "Yolk sac tumor of central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CNS yolk Sac tumor", "CNS yolk Sac tumour", "central nervous system yolk Sac tumor", "central nervous system yolk Sac tumour", "endodermal sinus tumor of CNS", "endodermal sinus tumor of central nervous system", "endodermal sinus tumour of CNS", "endodermal sinus tumour of central nervous system", "intracranial endodermal sinus tumor", "intracranial endodermal sinus tumour", "intracranial yolk sac tumor", "intracranial yolk sac tumour", "yolk Sac tumor of CNS", "yolk Sac tumor of central nervous system", "yolk Sac tumor of the CNS", "yolk Sac tumor of the central nervous system", "yolk Sac tumour of CNS", "yolk Sac tumour of central nervous system", "yolk Sac tumour of the CNS", "yolk Sac tumour of the central nervous system", "yolk sac tumor of CNS", "yolk sac tumour of CNS"], "xref": ["GARD:0020733", "MEDGEN:234492", "NCIT:C7011", "Orphanet:252006", "UMLS:C1337040", "icd11.foundation:1023155823"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)", "id": "MONDO:0016740", "name": "Choriocarcinoma of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["central nervous system choriocarcinoma", "central nervous system choriocarcinoma (disease)", "choriocarcinoma of CNS", "choriocarcinoma of the CNS"], "xref": ["GARD:0020734", "MEDGEN:234100", "NCIT:C7012", "Orphanet:252015", "UMLS:C1332876", "icd11.foundation:511691786"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.", "id": "MONDO:0016742", "name": "Mixed germ cell tumor of central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CNS mixed germ cell tumor", "CNS mixed germ cell tumour", "central nervous system mixed germ cell tumor", "central nervous system mixed germ cell tumour", "mixed germ cell neoplasm of the central nervous system", "mixed germ cell tumor of CNS", "mixed germ cell tumor of the CNS", "mixed germ cell tumor of the central nervous system", "mixed germ cell tumour of CNS", "mixed germ cell tumour of the CNS", "mixed germ cell tumour of the central nervous system"], "xref": ["GARD:0020736", "MEDGEN:233713", "NCIT:C7016", "Orphanet:252021", "UMLS:C1334785"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.", "id": "MONDO:0016743", "name": "Tumor of meninges", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["meningeal cluster neoplasm", "meningeal cluster neoplasm (disease)", "meningeal cluster rare nervous system tumor", "meningeal cluster rare nervous system tumour", "meningeal cluster tumor", "meningeal cluster tumour", "meningeal neoplasm", "meningeal neoplasms", "meningeal tumor", "meningeal tumour", "meninges neoplasm", "meninges tumor", "meninges tumour", "neoplasm of meningeal cluster", "neoplasm of meninges", "neoplasm of the meninges", "tumor of meningeal cluster", "tumor of meninges", "tumor of the meninges", "tumour of meningeal cluster", "tumour of the meninges"], "xref": ["EFO:0003851", "GARD:0020737", "ICD9:239.7", "MEDGEN:44353", "MedDRA:10061282", "NCIT:C3229", "ONCOTREE:MNGT", "Orphanet:252025", "SCTID:126965008", "UMLS:C0025284"]}
{"category": ["biolink:Disease"], "description": "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.", "id": "MONDO:0016745", "name": "Diffuse leptomeningeal melanocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DLM"], "xref": ["GARD:0020739", "MEDGEN:1651380", "Orphanet:252031", "UMLS:C4749348"]}
{"category": ["biolink:Disease"], "description": "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.", "id": "MONDO:0016746", "name": "Meningeal melanocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["leptomeningeal melanocytoma", "melanocytoma of meninges", "melanocytoma of the meninges", "meninges melanocytoma"], "xref": ["DOID:5900", "GARD:0020740", "ICDO:8728/1", "MEDGEN:226842", "NCIT:C4662", "Orphanet:252046", "SCTID:277527003", "UMLS:C1266113"]}
{"category": ["biolink:Disease"], "description": "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.", "id": "MONDO:0016747", "name": "Primary melanoma of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNS melanoma", "Central nervous system melanoma", "central nervous system melanoma", "central nervous system melanoma (disease)", "melanoma (disease) of central nervous system", "melanoma of CNS", "melanoma of central nervous system", "melanoma of the CNS", "melanoma of the Central nervous system"], "xref": ["GARD:0012016", "MEDGEN:578849", "NCIT:C5505", "ONCOTREE:PCNSM", "Orphanet:252050", "UMLS:C0349626", "icd11.foundation:539210076"]}
{"category": ["biolink:Disease"], "description": "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.", "id": "MONDO:0016748", "name": "Hemangioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["angioblastoma", "capillary hemangioblastoma", "hemangioblastoma"], "xref": ["DOID:5241", "GARD:0008232", "ICDO:9161/1", "MEDGEN:104929", "MESH:D018325", "MedDRA:10018813", "NCIT:C3801", "ONCOTREE:HMBL", "Orphanet:252054", "UMLS:C0206734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016749", "name": "Tumor of cranial and spinal nerves", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["rare tumor of cranial and spinal nerves", "rare tumour of cranial and spinal nerves"], "xref": ["GARD:0012697", "MEDGEN:1842705", "Orphanet:252057", "UMLS:C5679636"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.", "id": "MONDO:0016750", "name": "Microcephaly-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Halal syndrome"], "xref": ["GARD:0008623", "MEDGEN:419293", "MESH:C535622", "Orphanet:2521", "SCTID:719394002", "UMLS:C2930954"]}
{"category": ["biolink:Disease"], "description": "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.", "id": "MONDO:0016751", "name": "Malignant perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["malignant peripheral nerve sheath tumor with perineurial differentiation", "malignant peripheral nerve sheath tumour with perineurial differentiation", "perineurial malignant peripheral nerve sheath tumor", "perineurial malignant peripheral nerve sheath tumour", "perineurioma, malignant"], "xref": ["GARD:0020741", "ICDO:9571/3", "MEDGEN:220432", "NCIT:C66845", "Orphanet:252128", "SCTID:761958009", "UMLS:C1266188", "icd11.foundation:986576766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016752", "name": "Benign peripheral nerve sheath tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["BPNST"], "xref": ["GARD:0007180", "MEDGEN:1843306", "Orphanet:252131", "UMLS:C5577926"]}
{"category": ["biolink:Disease"], "description": "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.", "id": "MONDO:0016755", "name": "Neurofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neurofibroma", "neurofibroma (WHO grade I)", "neurofibroma, benign"], "xref": ["DOID:962", "GARD:0007191", "ICD9:215.9", "ICDO:9540/0", "MEDGEN:45058", "MESH:D009455", "MedDRA:10029267", "NCIT:C3272", "ONCOTREE:NFIB", "Orphanet:252183", "SCTID:404029005", "UMLS:C0027830", "icd11.foundation:221014277"]}
{"category": ["biolink:Disease"], "description": "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.", "id": "MONDO:0016757", "name": "Malignant triton tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPNST with rhabdomyosarcoma", "MPNST with rhabdomyosarcomatous differentiation", "MTT", "malignant Triton tumor", "malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma", "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma", "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma", "malignant peripheral nerve sheath tumor with rhabdomyosarcoma", "malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation", "malignant peripheral nerve sheath tumour with rhabdomyosarcoma", "malignant peripheral nerve sheath tumour with rhabdomyosarcomatous differenciation", "malignant tumor of peripheral nerve sheath with rhabdomyosarcoma", "malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma", "malignant tumour of peripheral nerve sheath with rhabdomyosarcoma", "malignant tumour of the peripheral nerve sheath with rhabdomyosarcoma"], "xref": ["DOID:6707", "GARD:0020743", "ICD9:171.9", "ICDO:9561/3", "MEDGEN:90816", "NCIT:C4335", "Orphanet:252212", "SCTID:404040002", "UMLS:C0334616"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.", "id": "MONDO:0016758", "name": "Microcephaly-brain defect-spasticity-hypernatremia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Franek-Bocker-Kahlen syndrome"], "xref": ["GARD:0003607", "MEDGEN:1668792", "Orphanet:2523", "UMLS:C4749368"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.", "id": "MONDO:0016759", "name": "Pontocerebellar hypoplasia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH2"], "xref": ["DOID:0112328", "GARD:0010705", "MEDGEN:420956", "MESH:C548070", "NCIT:C124057", "Orphanet:2524", "SCTID:715463008", "UMLS:C2932714", "icd11.foundation:1158649247"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.", "id": "MONDO:0016760", "name": "Microcephaly-microcornea syndrome, seemanova type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Seemanova-Lesny syndrome"], "xref": ["GARD:0003627", "MEDGEN:419433", "MESH:C537539", "Orphanet:2528", "SCTID:715464002", "UMLS:C2931524", "icd11.foundation:1197077842"]}
{"category": ["biolink:Disease"], "description": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.", "id": "MONDO:0016761", "name": "Spondyloepiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SED", "spondyloepiphyseal dysplasia"], "xref": ["DOID:0112280", "GARD:0007687", "ICD10CM:Q77.7", "ICD9:756.9", "MEDGEN:20916", "MedDRA:10062920", "Orphanet:252", "UMLS:C0038015"]}
{"category": ["biolink:Disease"], "description": "Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.", "id": "MONDO:0016762", "name": "Microcornea-corectopia-macular hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "xref": ["MEDGEN:444078", "MESH:C537551", "Orphanet:2535", "UMLS:C2931531"]}
{"category": ["biolink:Disease"], "description": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.", "id": "MONDO:0016763", "name": "Spondylometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["spondylometaphyseal dysplasia"], "xref": ["DOID:0112295", "GARD:0018685", "MEDGEN:1674850", "OMIMPS:184255", "Orphanet:254", "UMLS:C4759767", "icd11.foundation:181781948"]}
{"category": ["biolink:Disease"], "description": "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.", "id": "MONDO:0016764", "name": "Isolated anophthalmia-microphthalmia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MAC spectrum", "microphthalmia-anophthalmia-coloboma spectrum", "nonsyndromic anophthalmia-microphthalmia syndrome"], "xref": ["GARD:0012085", "MEDGEN:1826144", "Orphanet:2542", "UMLS:C5679828"]}
{"category": ["biolink:Disease"], "description": "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.", "id": "MONDO:0016765", "name": "19p13.12 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(19)(p13.12)", "monosomy 19p13.12"], "xref": ["GARD:0010991", "MEDGEN:930248", "Orphanet:254346", "SCTID:719597005", "UMLS:C4304579"]}
{"category": ["biolink:Disease"], "description": "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.", "id": "MONDO:0016769", "name": "Linear lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Blaschkoid LP", "Blaschkoid lichen planus", "linear LP"], "xref": ["GARD:0011898", "MEDGEN:507921", "Orphanet:254379", "SCTID:44509000", "UMLS:C0023650", "icd11.foundation:7180779"]}
{"category": ["biolink:Disease"], "description": "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.", "id": "MONDO:0016770", "name": "Actinic lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["actinic LP", "lichen planus actinus", "lichen planus subtropicus", "lichen planus tropicus", "lichenoid melanodermatitis", "summertime actinic lichenoid eruption"], "xref": ["GARD:0012673", "MEDGEN:590348", "Orphanet:254395", "SCTID:200999007", "UMLS:C0406365", "icd11.foundation:365229579"]}
{"category": ["biolink:Disease"], "description": "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.", "id": "MONDO:0016771", "name": "Annular atrophic lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["annular atrophic LP"], "xref": ["GARD:0012676", "MEDGEN:929706", "Orphanet:254411", "SCTID:720493003", "UMLS:C4304037"]}
{"category": ["biolink:Disease"], "description": "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.", "id": "MONDO:0016772", "name": "Annular lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["annular LP"], "xref": ["GARD:0012674", "MEDGEN:590346", "Orphanet:254424", "SCTID:201000006", "UMLS:C0406363", "icd11.foundation:206328727"]}
{"category": ["biolink:Disease"], "description": "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.", "id": "MONDO:0016773", "name": "Atrophic lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["atrophic LP"], "xref": ["GARD:0012675", "MEDGEN:9754", "MedDRA:10056959", "NCIT:C34777", "Orphanet:254449", "SCTID:25858008", "UMLS:C0023647", "icd11.foundation:1633911307"]}
{"category": ["biolink:Disease"], "description": "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.", "id": "MONDO:0016774", "name": "Lichen planus pigmentosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LP pigmentosa", "LP pigmentosus", "lichen planus pigmentosa", "lichen planus pigmentosus inversus"], "xref": ["GARD:0010816", "MEDGEN:590349", "Orphanet:254463", "SCTID:717061002", "UMLS:C0406366", "icd11.foundation:1235685123"]}
{"category": ["biolink:Disease"], "description": "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.", "id": "MONDO:0016775", "name": "Lichen planus pemphigoides", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LP pemphigoides"], "xref": ["GARD:0012677", "MEDGEN:590352", "Orphanet:254478", "SCTID:238653005", "UMLS:C0406369", "icd11.foundation:1373932539"]}
{"category": ["biolink:Disease"], "description": "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.", "id": "MONDO:0016776", "name": "Frontal fibrosing alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FFA"], "xref": ["GARD:0010886", "MEDGEN:899012", "Orphanet:254492", "SCTID:717055000", "UMLS:C4255374", "icd11.foundation:1257078333"]}
{"category": ["biolink:Disease"], "description": "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).", "id": "MONDO:0016777", "name": "Inhalational botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["inhalation botulism"], "xref": ["GARD:0020746", "MEDGEN:731169", "Orphanet:254504", "SCTID:409562009", "UMLS:C1443900", "icd11.foundation:1881625139"]}
{"category": ["biolink:Disease"], "description": "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.", "id": "MONDO:0016778", "name": "Iatrogenic botulism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_iatrogenic_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["accidental botulism", "inadvertent botulism"], "xref": ["GARD:0020747", "MEDGEN:926454", "NCIT:C128345", "Orphanet:254509", "UMLS:C4288922", "icd11.foundation:230654666"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.", "id": "MONDO:0016779", "name": "Kagami-Ogata syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kagami-Ogata syndrome", "MCA due to 14q32.2 maternally expressed gene defect"], "xref": ["DOID:0111712", "GARD:0017219", "MEDGEN:1830421", "Orphanet:254519", "UMLS:C5779872"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016780", "name": "Paternal 14q32.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["paternal del(14)(q32.2)", "paternal monosomy 14q32.2"], "xref": ["GARD:0017220", "MEDGEN:1842589", "Orphanet:254525", "UMLS:C5679639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016781", "name": "Maternal 14q32.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["maternal del(14)(q32.2)", "maternal monosomy 14q32.2"], "xref": ["GARD:0017221", "MEDGEN:1842712", "Orphanet:254528", "UMLS:C5679640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016782", "name": "Paternal 14q32.2 hypomethylation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017222", "MEDGEN:1842839", "Orphanet:254531", "UMLS:C5680721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016783", "name": "Maternal 14q32.2 hypermethylation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017223", "MEDGEN:1843365", "Orphanet:254534", "UMLS:C5680720"]}
{"category": ["biolink:Disease"], "description": "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.", "id": "MONDO:0016785", "name": "Complete hydatidiform mole", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classical hydatidiform Mole", "complete Mole", "complete hydatid Mole", "complete molar pregnancy"], "xref": ["GARD:0017224", "MEDGEN:195706", "NCIT:C4871", "ONCOTREE:CHM", "Orphanet:254688", "SCTID:237249000", "UMLS:C0678213", "icd11.foundation:1338299833"]}
{"category": ["biolink:Disease"], "description": "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.", "id": "MONDO:0016786", "name": "Partial hydatidiform mole", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["incomplete hydatid Mole", "incomplete hydatidiform mole", "incomplete molar pregnancy", "partial Mole", "partial hydatid Mole", "partial molar pregnancy"], "xref": ["GARD:0020749", "ICDO:9103/0", "MEDGEN:87258", "NCIT:C4293", "ONCOTREE:PHM", "Orphanet:254693", "SCTID:237250000", "UMLS:C0334529", "icd11.foundation:714020909"]}
{"category": ["biolink:Disease"], "description": "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.", "id": "MONDO:0016787", "name": "Epithelioid trophoblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["epithelioid trophoblastic tumor"], "xref": ["DOID:3593", "GARD:0020750", "ICDO:9105/3", "MEDGEN:266107", "NCIT:C6900", "ONCOTREE:ETT", "Orphanet:254698", "SCTID:609515005", "UMLS:C1266159"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.", "id": "MONDO:0016789", "name": "Pyruvate metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of pyruvate metabolic process", "inborn pyruvate metabolic process disorder", "rare inborn error of pyruvate metabolic process"], "xref": ["GARD:0020752", "MEDGEN:1842590", "Orphanet:254746", "UMLS:C0268192"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.", "id": "MONDO:0016790", "name": "Tricarboxylic acid cycle disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Krebs cycle disorder", "TCA cycle disorder", "citric acid cycle disorder", "inborn error of tricarboxylic acid cycle", "inborn tricarboxylic acid cycle disorder", "rare inborn error of tricarboxylic acid cycle"], "xref": ["GARD:0020753", "MEDGEN:1843282", "Orphanet:254749", "UMLS:C5679646"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.", "id": "MONDO:0016796", "name": "Mitochondrial dna depletion syndrome, encephalomyopathic form", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["mtDNA depletion syndrome, encephalomyopathic form"], "xref": ["GARD:0017225", "MEDGEN:1637084", "Orphanet:254803", "UMLS:C4707428", "icd11.foundation:113380609"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016798", "name": "Ataxia neuropathy spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020759", "MEDGEN:777176", "MESH:C579922", "Orphanet:254818", "UMLS:C3683791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016800", "name": "Mitochondrial membrane transport disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020761", "MEDGEN:1842228", "Orphanet:254827", "UMLS:C5680718", "icd11.foundation:1340308055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016801", "name": "Mitochondrial substrate carrier disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020762", "MEDGEN:1842923", "Orphanet:254830", "UMLS:C5680716", "icd11.foundation:1118834100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016802", "name": "Mitochondrial protein import disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020763", "MEDGEN:1843384", "Orphanet:254834", "UMLS:C5680717", "icd11.foundation:112110122"]}
{"category": ["biolink:Disease"], "description": "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.", "id": "MONDO:0016806", "name": "Maternally-inherited mitochondrial dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020767", "MEDGEN:907850", "Orphanet:254851", "SCTID:717054001", "UMLS:C4274074"]}
{"category": ["biolink:Disease"], "description": "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.", "id": "MONDO:0016807", "name": "Pure mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020768", "MEDGEN:1375079", "Orphanet:254854", "SCTID:732245008", "UMLS:C4517289", "icd11.foundation:141365898"]}
{"category": ["biolink:Disease"], "description": "A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.", "id": "MONDO:0016809", "name": "Spinocerebellar ataxia with epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MSCAE", "SCAE", "mitochondrial spinocerebellar ataxia with epilepsy"], "xref": ["GARD:0017229", "MEDGEN:334510", "MESH:C564395", "Orphanet:254881", "UMLS:C1843852", "icd11.foundation:1238648682"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of progressive external ophthalmoplegia.", "id": "MONDO:0016810", "name": "Autosomal recessive progressive external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["arPEO", "progressive external ophthalmoplegia, autosomal recessive"], "xref": ["GARD:0001191", "MEDGEN:340509", "MESH:C564926", "Orphanet:254886", "UMLS:C1850303"]}
{"category": ["biolink:Disease"], "description": "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.", "id": "MONDO:0016811", "name": "Renal tubulopathy-encephalopathy-liver failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017231", "MEDGEN:900319", "Orphanet:254902", "UMLS:C4274075"]}
{"category": ["biolink:Disease"], "description": "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.", "id": "MONDO:0016812", "name": "Dopa-responsive dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["DYT5 dystonia", "HPD with diurnal fluctuation", "Segawa's disease", "dopa-responsive dystonia", "hereditary progressive dystonia with diurnal fluctuation"], "xref": ["GARD:0012144", "MESH:C538007", "NANDO:1200516", "NANDO:2200885", "NCIT:C116719", "Orphanet:255", "SCTID:230332007", "icd11.foundation:1534901505"]}
{"category": ["biolink:Disease"], "description": "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.", "id": "MONDO:0016814", "name": "Maternally-inherited leigh syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MILS", "maternally-inherited Leigh disease", "maternally-inherited infantile subacute necrotizing encephalopathy"], "xref": ["GARD:0003671", "MEDGEN:443976", "MESH:C536035", "Orphanet:255210", "SCTID:717052002", "UMLS:C2931092"]}
{"category": ["biolink:Disease"], "description": "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).", "id": "MONDO:0016817", "name": "Meier-gorlin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meier-Gorlin syndrome", "ear-patella-short stature syndrome"], "xref": ["DOID:0060306", "GARD:0002033", "MEDGEN:401501", "MESH:C538012", "MedDRA:10070612", "NORD:1077", "OMIMPS:224690", "Orphanet:2554", "UMLS:C1868684"]}
{"category": ["biolink:Disease"], "description": "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).", "id": "MONDO:0016818", "name": "Mikati-najjar-sahli syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["microcephaly-hypergonadotropic hypogonadism-short stature syndrome"], "xref": ["GARD:0003617", "MEDGEN:1376092", "Orphanet:2558", "UMLS:C4518578"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.", "id": "MONDO:0016819", "name": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moebius axonal neuropathy hypogonadism"], "xref": ["GARD:0003698", "MEDGEN:419697", "MESH:C535806", "Orphanet:2560", "UMLS:C2931024"]}
{"category": ["biolink:Disease"], "description": "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.", "id": "MONDO:0016820", "name": "Moyamoya disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["idiopathic Moyamoya disease", "progressive intracranial arterial occlusion"], "xref": ["DOID:13099", "GARD:0007064", "ICD10CM:I67.5", "MEDGEN:7726", "MESH:D009072", "MedDRA:10028047", "NANDO:1200183", "NANDO:2100228", "NANDO:2200850", "NCIT:C84895", "NORD:1457", "OMIMPS:252350", "Orphanet:2573", "SCTID:89142007", "UMLS:C0026654", "icd11.foundation:1746892088", "icd11.foundation:369231682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016821", "name": "Shoulder and girdle defects-familial intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:2580"]}
{"category": ["biolink:Disease"], "description": "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.", "id": "MONDO:0016822", "name": "Myalgia-eosinophilia syndrome associated with tryptophan", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018775", "MEDGEN:698358", "MedDRA:10014952", "Orphanet:2582", "UMLS:C1275050"]}
{"category": ["biolink:Disease"], "description": "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.", "id": "MONDO:0016823", "name": "Mycetoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Madura foot"], "xref": ["GARD:0003862", "ICD10CM:B47", "ICD10WHO:B47", "MEDGEN:44241", "MESH:D008271", "MedDRA:10028427", "NCIT:C85505", "Orphanet:2583", "SCTID:410039003", "UMLS:C0024449"]}
{"category": ["biolink:Disease"], "description": "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.", "id": "MONDO:0016824", "name": "Infantile myofibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["infantile hemangiopericytoma", "infantile myofibromatosis", "multicentric myofibromatosis", "myofibromatosis"], "xref": ["DOID:0080109", "GARD:0002998", "ICDO:8824/1", "MEDGEN:140933", "MESH:D018224", "NCIT:C3742", "NORD:1301", "OMIMPS:228550", "ONCOTREE:IMS", "Orphanet:2591", "UMLS:C0432284"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.", "id": "MONDO:0016825", "name": "Mitochondrial myopathy-lactic acidosis-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial myopathy with lactic acidosis", "mitochondrial myopathy-lactic acidosis-hearing loss syndrome"], "xref": ["GARD:0003682", "MEDGEN:343245", "MESH:C537476", "OMIM:251950", "Orphanet:2597", "UMLS:C1855033"]}
{"category": ["biolink:Disease"], "description": "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).", "id": "MONDO:0016826", "name": "Methylmalonic aciduria and homocystinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["combined defect in adenosylcobalamin and methylcobalamin synthesis", "methylmalonic aciduria with homocystinuria"], "xref": ["GARD:0003579", "MEDGEN:1864102", "MESH:C537359", "OMIMPS:277400", "Orphanet:26", "UMLS:C5848324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016827", "name": "Myopathy-growth delay-intellectual disability-hypospadias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:2601"]}
{"category": ["biolink:Disease"], "description": "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.", "id": "MONDO:0016828", "name": "Autosomal recessive sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARSA", "sideroblastic anemia, autosomal recessive"], "xref": ["GARD:0017240", "MEDGEN:895586", "Orphanet:260305", "SCTID:717050005", "UMLS:C4274077"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.", "id": "MONDO:0016829", "name": "Familial visceral myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial hollow visceral myopathy", "hereditary hollow visceral myopathy", "megaduodenum and/or megacystis"], "xref": ["GARD:0003443", "ICD9:359.89", "MEDGEN:120590", "OMIMPS:155310", "Orphanet:2604", "SCTID:63684002", "UMLS:C0266833", "icd11.foundation:1838806574"]}
{"category": ["biolink:Disease"], "description": "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.", "id": "MONDO:0016830", "name": "Emery-dreifuss muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDMD", "Emery Dreifuss Muscular Dystrophy", "Emery-Dreifuss muscular dystrophy"], "xref": ["DOID:11726", "GARD:0006329", "MEDGEN:96078", "MESH:D020389", "NANDO:1200492", "NANDO:2200857", "NCIT:C84685", "NORD:1084", "OMIMPS:310300", "Orphanet:261", "SCTID:111508004", "UMLS:C0410189", "icd11.foundation:749295636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016831", "name": "Linear verrucous nevus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["linear hamartoma syndrome"], "xref": ["GARD:0003259", "MEDGEN:1806291", "Orphanet:2611", "UMLS:C5679838"]}
{"category": ["biolink:Disease"], "description": "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.", "id": "MONDO:0016832", "name": "Distal 7q11.23 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Dup7q11.23D", "distal dup(7)(q11.23)", "distal trisomy 7q11.23"], "xref": ["GARD:0020770", "MEDGEN:1662568", "Orphanet:261102", "UMLS:C4750782"]}
{"category": ["biolink:Disease"], "description": "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.", "id": "MONDO:0016833", "name": "14q12 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Del(14)(q12)", "monosomy 14q12"], "xref": ["GARD:0020771", "MEDGEN:930909", "Orphanet:261144", "SCTID:719574007", "UMLS:C4305240"]}
{"category": ["biolink:Disease"], "description": "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.", "id": "MONDO:0016834", "name": "16p11.2p12.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["16p11.2 microduplication syndrome", "16p11.2-p12.2 microduplication syndrome", "dup(16)(p11.2p12.2)", "trisomy 16p11.2p12.2"], "xref": ["DECIPHER:78", "DECIPHER:96", "GARD:0020772", "MEDGEN:1377902", "Orphanet:261204", "SCTID:733518000", "UMLS:C4518821"]}
{"category": ["biolink:Disease"], "description": "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.", "id": "MONDO:0016835", "name": "14q11.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(14)(q11.2)", "trisomy 14q11.2"], "xref": ["GARD:0020773", "MEDGEN:1657429", "Orphanet:261229", "UMLS:C4749855"]}
{"category": ["biolink:Disease"], "description": "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.", "id": "MONDO:0016836", "name": "16p13.11 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)", "Del(16)(p13.11)", "monosomy 16p13.11"], "xref": ["DECIPHER:79", "GARD:0020774", "MEDGEN:930265", "Orphanet:261236", "SCTID:719577000", "UMLS:C4304596"]}
{"category": ["biolink:Disease"], "description": "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.", "id": "MONDO:0016837", "name": "16p13.11 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)", "dup(16)(p13.11)", "trisomy 16p13.11"], "xref": ["DECIPHER:80", "GARD:0020775", "MEDGEN:930264", "Orphanet:261243", "SCTID:719578005", "UMLS:C4304595"]}
{"category": ["biolink:Disease"], "description": "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.", "id": "MONDO:0016838", "name": "16q24.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(16)(q24.3)", "monosomy 16q24.3"], "xref": ["GARD:0010935", "MEDGEN:930263", "Orphanet:261250", "SCTID:719580004", "UMLS:C4304594"]}
{"category": ["biolink:Disease"], "description": "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.", "id": "MONDO:0016839", "name": "Distal 17p13.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal del(17)(p13.3)", "distal monosomy 17p13.3"], "xref": ["GARD:0020776", "MEDGEN:1643975", "Orphanet:261257", "SCTID:764696007", "UMLS:C4707092"]}
{"category": ["biolink:Disease"], "description": "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.", "id": "MONDO:0016840", "name": "Trisomy 17p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(17p)", "trisomy type 17p"], "xref": ["GARD:0005318", "MEDGEN:167078", "MESH:C538048", "Orphanet:261290", "SCTID:717049005", "UMLS:C0795865"]}
{"category": ["biolink:Disease"], "description": "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.", "id": "MONDO:0016841", "name": "20p12.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(20)(p12.3)", "monosomy 20p12.3"], "xref": ["GARD:0012492", "MEDGEN:930208", "Orphanet:261295", "SCTID:719650004", "UMLS:C4304539"]}
{"category": ["biolink:Disease"], "description": "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.", "id": "MONDO:0016842", "name": "Paternal 20q13.2q13.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["paternal 20q13.2-q13.3 microdeletion syndrome", "paternal del(20)(q13.2q13.3)", "paternal monosomy 20q13.2-q13.3", "paternal monosomy 20q13.2q13.3"], "xref": ["GARD:0020777", "MEDGEN:1390091", "Orphanet:261304", "SCTID:724070005", "UMLS:C4510306"]}
{"category": ["biolink:Disease"], "description": "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.", "id": "MONDO:0016843", "name": "20q13.33 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(20)(q13.33)", "monosomy 20q13.33"], "xref": ["GARD:0020778", "MEDGEN:1384661", "Orphanet:261311", "SCTID:733520002", "UMLS:C4518823"]}
{"category": ["biolink:Disease"], "description": "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.", "id": "MONDO:0016844", "name": "Trisomy 20p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication of 20p", "dup(20p)", "partial duplication of chromosome 20p", "partial duplication of the short arm of chromosome 20", "partial trisomy of chromosome 20p", "partial trisomy of the short arm of chromosome 20", "trisomy 20p", "trisomy type 20p"], "xref": ["GARD:0005333", "ICD9:758.5", "MEDGEN:418939", "MESH:C535371", "Orphanet:261318", "SCTID:111311004", "UMLS:C2930888"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016845", "name": "21q22.11q22.12 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["21q22.11-q22.12 microdeletion syndrome", "Del(21)(q22.11q22.12)", "monosomy 21q22.11-q22.12", "monosomy 21q22.11q22.12"], "xref": ["GARD:0020779", "MEDGEN:1681958", "Orphanet:261323", "UMLS:C5192593"]}
{"category": ["biolink:Disease"], "description": "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.", "id": "MONDO:0016846", "name": "Distal 22q11.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal dup(22)(q11.2)", "distal trisomy 22q11.2"], "xref": ["GARD:0020780", "MEDGEN:1637660", "Orphanet:261337", "SCTID:764524005", "UMLS:C4706942"]}
{"category": ["biolink:Disease"], "description": "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.", "id": "MONDO:0016847", "name": "Trisomy 1q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 1q", "trisomy type 1q"], "xref": ["GARD:0020781", "MEDGEN:1636619", "Orphanet:261344", "SCTID:768927001", "UMLS:C4708596"]}
{"category": ["biolink:Disease"], "description": "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.", "id": "MONDO:0016848", "name": "Juvenile temporal arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["JTA", "non-giant cell granulomatous temporal arteritis with eosinophilia"], "xref": ["GARD:0003068", "MEDGEN:155583", "Orphanet:26137", "SCTID:722020006", "UMLS:C0751547", "icd11.foundation:135739104"]}
{"category": ["biolink:Disease"], "description": "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.", "id": "MONDO:0016850", "name": "Atypical norrie disease due to monosomy xp11.3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["atypical Norrie disease due to Xp11.3 microdeletion", "atypical Norrie disease due to del(X)(p11.3)"], "xref": ["GARD:0020782", "MEDGEN:1377538", "Orphanet:261501", "SCTID:733626002", "UMLS:C4518083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016851", "name": "Maternal uniparental disomy of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(X)mat", "maternal uniparental disomy of chromosome type X"], "xref": ["GARD:0020783", "MEDGEN:1673747", "Orphanet:261519", "UMLS:C5191056", "icd11.foundation:573923144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016852", "name": "Paternal uniparental disomy of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(X)pat", "paternal uniparental disomy of chromosome type X"], "xref": ["GARD:0020784", "MEDGEN:1683101", "Orphanet:261524", "UMLS:C5191049", "icd11.foundation:444322860"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.", "id": "MONDO:0016853", "name": "Ring chromosome y", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type Y", "r(Y)"], "xref": ["GARD:0020785", "MEDGEN:1631964", "Orphanet:261529", "SCTID:763407008", "UMLS:C4706450", "icd11.foundation:388539343"]}
{"category": ["biolink:Disease"], "description": "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016854", "name": "49,xxxyy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010922", "MEDGEN:1667231", "Orphanet:261534", "UMLS:C4749586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016855", "name": "Mowat-wilson syndrome due to monosomy 2q22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hirschsprung disease and intellectual disability due to 2q22 microdeletion", "Hirschsprung disease and intellectual disability due to del(2)(q22)", "Hirschsprung disease and intellectual disability due to monosomy 2q22", "Mowat-Wilson syndrome due to 2q22 microdeletion", "Mowat-Wilson syndrome due to del(2)q(22)", "Mowat-Wilson syndrome due to monosomy type 2q22"], "xref": ["GARD:0017248", "MEDGEN:1723926", "Orphanet:261537", "UMLS:C5437617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016856", "name": "Mowat-wilson syndrome due to a zeb2 point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hirschsprung disease and intellectual disability due to a ZEB2 point mutation"], "xref": ["GARD:0017249", "MEDGEN:1842263", "Orphanet:261552", "UMLS:C5679681"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.", "id": "MONDO:0016857", "name": "Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_etiological_subtype", "mondo:rare"], "xref": ["Orphanet:261559"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.", "id": "MONDO:0016858", "name": "Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["blepharophimosis types 1 and 2 due to a point mutation"], "xref": ["Orphanet:261572"]}
{"category": ["biolink:Disease"], "description": "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.", "id": "MONDO:0016859", "name": "Blepharophimosis-epicanthus inversus-ptosis due to copy number variations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["blepharophimosis types 1 and 2 due to copy number variations", "blepharophimosis-epicanthus inversus-ptosis due to a CNV"], "xref": ["Orphanet:261579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016860", "name": "Familial adenomatous polyposis due to 5q22.2 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAP due to monosomy 5q22.2", "colorectal adenomatous polyposis due to monosomy 5q22.2", "familial adenomatous polyposis due to del(5)(q22.2)", "familial adenomatous polyposis due to monosomy 5q22.2", "familial polyposis coli due to monosomy 5q22.2"], "xref": ["GARD:0020786", "MEDGEN:1788749", "Orphanet:261584", "UMLS:C5548205", "icd11.foundation:990238909"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016861", "name": "Alagille syndrome due to 20p12 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alagille syndrome due to del(20)(p12)", "Alagille syndrome due to monosomy 20p12", "Alagille-Watson syndrome due to monosomy 20p12", "Arteriohepatic dysplasia due to monosomy 20p12", "syndromic bile duct paucity due to monosomy 20p12"], "xref": ["GARD:0017250", "MEDGEN:1826025", "Orphanet:261600", "UMLS:C5679679"]}
{"category": ["biolink:Disease"], "description": "Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.", "id": "MONDO:0016862", "name": "Alagille syndrome due to a jag1 point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alagille syndrome due to a JAG1 point mutation", "Alagille syndrome type 1", "Alagille syndrome-JAG1", "Alagille-Watson syndrome due to a JAG1 point mutation", "arteriohepatic dysplasia due to a JAG1 point mutation", "syndromic bile duct paucity due to a JAG1 point mutation"], "xref": ["GARD:0017251", "MEDGEN:365434", "OMIM:118450", "Orphanet:261619", "UMLS:C1956125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016863", "name": "Okihiro syndrome due to 20q13 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Duane-radial ray syndrome due to monosomy 20q13", "Okihiro syndrome due to del(20)(q13)", "Okihiro syndrome due to monosomy 20q13"], "xref": ["GARD:0020787", "MEDGEN:1826026", "Orphanet:261638", "UMLS:C5679682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016864", "name": "Okihiro syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Duane-radial ray syndrome due to a point mutation"], "xref": ["GARD:0020788", "MEDGEN:1842838", "Orphanet:261647", "UMLS:C5679683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016865", "name": "Kleefstra syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017253", "MEDGEN:1826146", "Orphanet:261652", "UMLS:C5680724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016866", "name": "Partial deletion of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 1", "partial monosomy of chromosome 1"], "xref": ["MEDGEN:1825957", "Orphanet:261766", "UMLS:C5679647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016867", "name": "Partial deletion of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 2", "partial monosomy of chromosome 2"], "xref": ["MEDGEN:1825960", "Orphanet:261771", "UMLS:C5679650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016868", "name": "Partial deletion of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 3", "partial monosomy of chromosome 3"], "xref": ["MEDGEN:1826012", "Orphanet:261776", "UMLS:C5679651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016869", "name": "Partial deletion of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 4", "partial monosomy of chromosome 4"], "xref": ["MEDGEN:1825958", "Orphanet:261781", "UMLS:C5679648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016870", "name": "Partial deletion of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 5", "partial monosomy of chromosome 5"], "xref": ["MEDGEN:1825959", "Orphanet:261786", "UMLS:C5679649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016871", "name": "Partial deletion of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 6", "partial monosomy of chromosome 6"], "xref": ["MEDGEN:1826013", "Orphanet:261791", "UMLS:C5679654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016872", "name": "Partial deletion of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 7", "partial monosomy of chromosome 7"], "xref": ["MEDGEN:1825962", "Orphanet:261796", "UMLS:C5679655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016873", "name": "Partial deletion of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 8", "partial monosomy of chromosome 8"], "xref": ["MEDGEN:1825961", "Orphanet:261801", "UMLS:C5679652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016874", "name": "Partial deletion of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 9", "partial monosomy of chromosome 9"], "xref": ["MEDGEN:1825996", "Orphanet:261806", "UMLS:C5679653"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016875", "name": "Partial deletion of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial monosomy of chromosome 10"], "xref": ["MEDGEN:1826016", "Orphanet:261811", "UMLS:C5679658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016876", "name": "Partial deletion of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 11", "partial monosomy of chromosome 11"], "xref": ["MEDGEN:1826017", "Orphanet:261816", "UMLS:C5679659"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016877", "name": "Partial deletion of the long arm of chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 12q", "partial deletion of the long arm of chromosome type 12", "partial monosomy of chromosome 12q", "partial monosomy of the long arm of chromosome 12"], "xref": ["MEDGEN:1826014", "Orphanet:261821", "UMLS:C5679656", "icd11.foundation:1206066048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016878", "name": "Partial deletion of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 16", "partial monosomy of chromosome 16"], "xref": ["MEDGEN:1826015", "Orphanet:261826", "UMLS:C5679657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016879", "name": "Partial deletion of chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 17", "partial monosomy of chromosome 17"], "xref": ["MEDGEN:1825963", "Orphanet:261831", "UMLS:C5679661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016880", "name": "Partial deletion of chromosome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial deletion of chromosome type 18", "partial monosomy of chromosome 18"], "xref": ["MEDGEN:1826018", "Orphanet:261836", "UMLS:C5679660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016881", "name": "Partial deletion of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 19", "partial monosomy of chromosome 19"], "xref": ["MEDGEN:1825965", "Orphanet:261841", "UMLS:C5679663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016882", "name": "Partial deletion of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 20", "partial monosomy of chromosome 20"], "xref": ["MEDGEN:1825964", "Orphanet:261846", "UMLS:C5679662"]}
{"category": ["biolink:Disease"], "description": "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016883", "name": "Partial deletion of the short arm of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 1p", "partial deletion of the short arm of chromosome type 1", "partial monosomy of chromosome 1p", "partial monosomy of the short arm of chromosome 1"], "xref": ["MEDGEN:208633", "MESH:C535591", "NCIT:C36501", "Orphanet:261857", "UMLS:C0795796", "icd11.foundation:1004815242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016884", "name": "Partial deletion of the short arm of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 2p", "partial deletion of the short arm of chromosome type 2", "partial monosomy of chromosome 2p", "partial monosomy of the short arm of chromosome 2"], "xref": ["MEDGEN:1826019", "Orphanet:261866", "UMLS:C5679664", "icd11.foundation:1610083208"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016885", "name": "Partial deletion of the short arm of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 3p", "partial deletion of the short arm of chromosome type 3", "partial monosomy of chromosome 3p", "partial monosomy of the short arm of chromosome 3"], "xref": ["MEDGEN:1826020", "Orphanet:261875", "UMLS:C5679666", "icd11.foundation:551346575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016887", "name": "Partial deletion of the short arm of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 5p", "partial deletion of the short arm of chromosome type 5", "partial monosomy of chromosome 5p", "partial monosomy of the short arm of chromosome 5"], "xref": ["MEDGEN:1788277", "Orphanet:261893", "UMLS:C5547451", "icd11.foundation:1109271336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016888", "name": "Partial deletion of the short arm of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial deletion of chromosome 6p", "partial deletion of the short arm of chromosome type 6", "partial monosomy of chromosome 6p", "partial monosomy of the short arm of chromosome 6"], "xref": ["GARD:0020810", "MEDGEN:1825966", "Orphanet:261902", "UMLS:C5679667", "icd11.foundation:241036989"]}
{"category": ["biolink:Disease"], "description": "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016889", "name": "Partial deletion of the short arm of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["partial deletion of chromosome 7p", "partial deletion of the short arm of chromosome type 7", "partial monosomy of chromosome 7p", "partial monosomy of the short arm of chromosome 7"], "xref": ["MEDGEN:1826021", "Orphanet:261911", "UMLS:C5679668", "icd11.foundation:1523142467"]}
{"category": ["biolink:Disease"], "description": "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016890", "name": "Partial deletion of the short arm of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 8p", "partial deletion of the short arm of chromosome type 8", "partial monosomy of chromosome 8p", "partial monosomy of the short arm of chromosome 8"], "xref": ["MEDGEN:444105", "MESH:C537826", "Orphanet:261920", "UMLS:C2931635", "icd11.foundation:635585868"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016892", "name": "Partial deletion of the short arm of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 10p", "partial deletion of the short arm of chromosome type 10", "partial monosomy of chromosome 10p", "partial monosomy of the short arm of chromosome 10"], "xref": ["MEDGEN:162776", "Orphanet:261938", "UMLS:C0795836", "icd11.foundation:350543001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016893", "name": "Partial deletion of the short arm of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 11p", "partial deletion of the short arm of chromosome type 11", "partial monosomy of chromosome 11p", "partial monosomy of the short arm of chromosome 11"], "xref": ["MEDGEN:419498", "Orphanet:261947", "UMLS:C2931801", "icd11.foundation:127054483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016894", "name": "Partial deletion of the short arm of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 16p", "partial deletion of the short arm of chromosome type 16", "partial monosomy of chromosome 16p", "partial monosomy of the short arm of chromosome 16"], "xref": ["MEDGEN:1825967", "Orphanet:261956", "UMLS:C5679670", "icd11.foundation:934406879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016897", "name": "Partial deletion of the short arm of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 19p", "partial deletion of the short arm of chromosome type 19", "partial monosomy of chromosome 19p", "partial monosomy of the short arm of chromosome 19"], "xref": ["MEDGEN:1826022", "Orphanet:261983", "UMLS:C5679672", "icd11.foundation:1325170119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016898", "name": "Partial monosomy of the short arm of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["Pure partial 20p deletion", "partial deletion of chromosome 20p", "partial deletion of the short arm of chromosome 20", "partial monosomy of chromosome 20p", "partial monosomy of the short arm of chromosome type 20"], "xref": ["MEDGEN:1826023", "MESH:C535370", "Orphanet:261992", "UMLS:C5679673", "icd11.foundation:274545745"]}
{"category": ["biolink:Disease"], "description": "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016901", "name": "Partial deletion of the long arm of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 2q", "partial deletion of the long arm of chromosome type 2", "partial monosomy of chromosome 2q", "partial monosomy of the long arm of chromosome 2"], "xref": ["MEDGEN:162770", "MESH:C538315", "Orphanet:262010", "UMLS:C0795804", "icd11.foundation:754787315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016902", "name": "Partial deletion of the long arm of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 3q", "partial deletion of the long arm of chromosome type 3", "partial monosomy of chromosome 3q", "partial monosomy of the long arm of chromosome 3"], "xref": ["MEDGEN:1825968", "Orphanet:262019", "UMLS:C5679675", "icd11.foundation:1054533453"]}
{"category": ["biolink:Disease"], "description": "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016903", "name": "Partial deletion of the long arm of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 4q", "partial deletion of the long arm of chromosome type 4", "partial monosomy of chromosome 4q", "partial monosomy of the long arm of chromosome 4"], "xref": ["MEDGEN:468967", "MESH:C537639", "Orphanet:262029", "UMLS:C0265404", "icd11.foundation:855319857"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016904", "name": "Partial deletion of the long arm of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 5q", "partial deletion of the long arm of chromosome type 5", "partial monosomy of chromosome 5q", "partial monosomy of the long arm of chromosome 5"], "xref": ["Orphanet:262038", "icd11.foundation:285885131"]}
{"category": ["biolink:Disease"], "description": "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016905", "name": "Partial deletion of the long arm of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 6q", "partial deletion of the long arm of chromosome type 6", "partial monosomy of chromosome 6q", "partial monosomy of the long arm of chromosome 6"], "xref": ["MEDGEN:162772", "MESH:C537807", "Orphanet:262047", "UMLS:C0795816", "icd11.foundation:41692353"]}
{"category": ["biolink:Disease"], "description": "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016906", "name": "Partial deletion of the long arm of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 7q", "partial deletion of the long arm of chromosome type 7", "partial monosomy of chromosome 7q", "partial monosomy of the long arm of chromosome 7"], "xref": ["MEDGEN:1825969", "NCIT:C36408", "Orphanet:262056", "UMLS:C5679676", "icd11.foundation:1458081087"]}
{"category": ["biolink:Disease"], "description": "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016907", "name": "Partial deletion of the long arm of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 8q", "partial deletion of the long arm of chromosome type 8", "partial monosomy of chromosome 8q", "partial monosomy of the long arm of chromosome 8"], "xref": ["MEDGEN:208638", "MESH:C537828", "Orphanet:262065", "UMLS:C0795828", "icd11.foundation:653068448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016908", "name": "Partial monosomy of the long arm of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 9q", "partial deletion of the long arm of chromosome 9", "partial monosomy of chromosome 9q", "partial monosomy of the long arm of chromosome type 9"], "xref": ["MEDGEN:1826024", "Orphanet:262074", "UMLS:C5679677", "icd11.foundation:1051626600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016909", "name": "Partial monosomy of the long arm of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 10q", "partial deletion of the long arm of chromosome 10", "partial monosomy of chromosome 10q", "partial monosomy of the long arm of chromosome type 10"], "xref": ["MEDGEN:162778", "Orphanet:262083", "UMLS:C0795839", "icd11.foundation:376045936"]}
{"category": ["biolink:Disease"], "description": "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.", "id": "MONDO:0016910", "name": "Partial deletion of the long arm of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 11q", "partial deletion of the long arm of chromosome type 11", "partial monosomy of chromosome 11q", "partial monosomy of the long arm of chromosome 11"], "xref": ["GTR:AN0100478", "GTR:AN0100479", "GTR:AN0100480", "MEDGEN:419905", "MESH:C538296", "NCIT:C37312", "Orphanet:262092", "UMLS:C2931804", "icd11.foundation:237602200"]}
{"category": ["biolink:Disease"], "description": "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.", "id": "MONDO:0016911", "name": "Partial deletion of the long arm of chromosome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 13q", "partial deletion of the long arm of chromosome type 13", "partial monosomy of chromosome 13q", "partial monosomy of the long arm of chromosome 13"], "xref": ["MEDGEN:120541", "MESH:C535449", "NCIT:C36497", "Orphanet:262101", "UMLS:C0265451"]}
{"category": ["biolink:Disease"], "description": "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.", "id": "MONDO:0016912", "name": "Partial deletion of the long arm of chromosome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 14q", "partial deletion of the long arm of chromosome type 14", "partial monosomy of chromosome 14q", "partial monosomy of the long arm of chromosome 14"], "xref": ["MEDGEN:444119", "Orphanet:262110", "UMLS:C2931697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016913", "name": "Partial deletion of the long arm of chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 15q", "partial deletion of the long arm of chromosome type 15", "partial monosomy of chromosome 15q", "partial monosomy of the long arm of chromosome 15"], "xref": ["MEDGEN:444123", "MESH:C538038", "Orphanet:262119", "UMLS:C2931708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016914", "name": "Partial deletion of the long arm of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 16q", "partial deletion of the long arm of chromosome type 16", "partial monosomy of chromosome 16q", "partial monosomy of the long arm of chromosome 16"], "xref": ["MEDGEN:1790033", "Orphanet:262128", "UMLS:C4736186", "icd11.foundation:324314539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016915", "name": "Partial deletion of the long arm of chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 17q", "partial deletion of the long arm of chromosome type 17", "partial monosomy of chromosome 17q", "partial monosomy of the long arm of chromosome 17"], "xref": ["MEDGEN:1826046", "Orphanet:262137", "UMLS:C5679727", "icd11.foundation:186065235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016917", "name": "Partial deletion of the long arm of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 19q", "partial deletion of the long arm of chromosome type 19", "partial monosomy of chromosome 19q", "partial monosomy of the long arm of chromosome 19"], "xref": ["MEDGEN:1826047", "Orphanet:262155", "UMLS:C5679729", "icd11.foundation:434506582"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016918", "name": "Partial deletion of the long arm of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 20q", "partial deletion of the long arm of chromosome type 20", "partial monosomy of chromosome 20q", "partial monosomy of the long arm of chromosome 20"], "xref": ["MEDGEN:1826048", "Orphanet:262164", "UMLS:C5679730", "icd11.foundation:27627438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016919", "name": "Partial deletion of the long arm of chromosome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome 21q", "partial deletion of the long arm of chromosome type 21", "partial monosomy of chromosome 21q", "partial monosomy of the long arm of chromosome 21"], "xref": ["MEDGEN:1825976", "Orphanet:262173", "UMLS:C5679731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016921", "name": "Partial duplication of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 1", "partial trisomy of chromosome 1"], "xref": ["MEDGEN:1379629", "Orphanet:262191", "SCTID:726338000", "UMLS:C4518488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016922", "name": "Partial duplication of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 2", "partial trisomy of chromosome 2"], "xref": ["MEDGEN:1372476", "Orphanet:262196", "SCTID:726340005", "UMLS:C4518490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016923", "name": "Partial duplication of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 3", "partial trisomy of chromosome 3"], "xref": ["MEDGEN:1372547", "Orphanet:262201", "SCTID:726341009", "UMLS:C4518491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016924", "name": "Partial duplication of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 4", "partial trisomy of chromosome 4"], "xref": ["MEDGEN:1392317", "Orphanet:262206", "SCTID:726342002", "UMLS:C4518492"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016925", "name": "Partial trisomy/tetrasomy of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication/triplication of chromosome 5", "partial trisomy/tetrasomy of chromosome type 5"], "xref": ["MEDGEN:1841547", "Orphanet:262211", "UMLS:C5816686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016927", "name": "Partial duplication of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 6", "partial trisomy of chromosome 6"], "xref": ["MEDGEN:1379251", "Orphanet:262628", "SCTID:726345000", "UMLS:C4518495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016928", "name": "Partial duplication of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 7", "partial trisomy of chromosome 7"], "xref": ["MEDGEN:1383136", "Orphanet:262633", "SCTID:726346004", "UMLS:C4518496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016929", "name": "Partial duplication of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome type 8", "partial trisomy of chromosome 8"], "xref": ["GARD:0020849", "MEDGEN:419136", "MESH:C537941", "Orphanet:262638", "SCTID:726347008", "UMLS:C2931671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016930", "name": "Partial trisomy/tetrasomy of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication/triplication of chromosome 9", "partial trisomy/tetrasomy of chromosome type 9"], "xref": ["GARD:0020850", "MEDGEN:1841529", "Orphanet:262643", "UMLS:C5816685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016931", "name": "Partial duplication of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial trisomy of chromosome 10"], "xref": ["MEDGEN:1384114", "Orphanet:262648", "SCTID:726349006", "UMLS:C4518498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016932", "name": "Partial duplication of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 11", "partial trisomy of chromosome 11"], "xref": ["DOID:0070614", "MEDGEN:1386777", "Orphanet:262653", "SCTID:726350006", "UMLS:C4518499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016933", "name": "Partial trisomy/tetrasomy of the short arm of chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication/triplication of chromosome 12p", "partial duplication/triplication of the short arm of chromosome 12", "partial trisomy/tetrasomy of chromosome 12p", "partial trisomy/tetrasomy of the short arm of chromosome type 12"], "xref": ["MEDGEN:1826045", "Orphanet:262658", "UMLS:C5679724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016934", "name": "Partial duplication of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 16", "partial trisomy of chromosome 16"], "xref": ["MEDGEN:1379206", "Orphanet:262672", "SCTID:726355001", "UMLS:C4518504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016935", "name": "Partial duplication of chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 17", "partial trisomy of chromosome 17"], "xref": ["MEDGEN:1387434", "Orphanet:262677", "SCTID:726356000", "UMLS:C4518505"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.", "id": "MONDO:0016936", "name": "Partial trisomy/tetrasomy of chromosome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication/triplication of chromosome 18", "partial trisomy/tetrasomy of chromosome type 18"], "xref": ["MEDGEN:1841544", "Orphanet:262682", "UMLS:C5816684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016937", "name": "Partial duplication of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type 19", "partial trisomy of chromosome 19"], "xref": ["MEDGEN:1379548", "Orphanet:262687", "SCTID:726358004", "UMLS:C4518507"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016938", "name": "Partial trisomy of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 20", "partial trisomy of chromosome type 20"], "xref": ["MEDGEN:1377617", "Orphanet:262692", "SCTID:726360002", "UMLS:C4518509"]}
{"category": ["biolink:Disease"], "description": "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016939", "name": "Partial duplication of the short arm of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 2p", "partial duplication of the short arm of chromosome type 2", "partial trisomy of chromosome 2p"], "xref": ["MEDGEN:208635", "MESH:C538318", "Orphanet:262698", "UMLS:C0795803", "icd11.foundation:232544112"]}
{"category": ["biolink:Disease"], "description": "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016940", "name": "Partial duplication of the short arm of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 3p", "partial duplication of the short arm of chromosome type 3", "partial trisomy of chromosome 3p", "partial trisomy of the short arm of chromosome 3"], "xref": ["MEDGEN:1826042", "MESH:C536811", "Orphanet:262707", "UMLS:C5679720", "icd11.foundation:514472294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016941", "name": "Partial duplication of the short arm of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 4p", "partial duplication of the short arm of chromosome type 4", "partial trisomy of chromosome 4p", "partial trisomy of the short arm of chromosome 4"], "xref": ["MEDGEN:1826041", "Orphanet:262716", "UMLS:C5679719", "icd11.foundation:1245616284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016942", "name": "Partial trisomy/tetrasomy of the short arm of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication/triplication of chromosome 5p", "partial duplication/triplication of the short arm of chromosome 5", "partial trisomy/tetrasomy of chromosome 5p", "partial trisomy/tetrasomy of the short arm of chromosome type 5"], "xref": ["MEDGEN:1826044", "Orphanet:262725", "UMLS:C5679722"]}
{"category": ["biolink:Disease"], "description": "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016943", "name": "Partial duplication of the short arm of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 6p", "partial duplication of the short arm of chromosome type 6", "partial trisomy of chromosome 6p", "partial trisomy of the short arm of chromosome 6"], "xref": ["MEDGEN:1826043", "MESH:C537811", "Orphanet:262740", "UMLS:C5679721", "icd11.foundation:657610285"]}
{"category": ["biolink:Disease"], "description": "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016944", "name": "Partial duplication of the short arm of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 7p", "partial duplication of the short arm of chromosome type 7", "partial trisomy of chromosome 7p", "partial trisomy of the short arm of chromosome 7"], "xref": ["MEDGEN:162875", "MESH:C537819", "Orphanet:262749", "UMLS:C0795820", "icd11.foundation:79901143"]}
{"category": ["biolink:Disease"], "description": "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016945", "name": "Partial duplication of the short arm of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome 8p", "partial duplication of the short arm of chromosome type 8", "partial trisomy of chromosome 8p", "partial trisomy of the short arm of chromosome 8"], "xref": ["MEDGEN:1632060", "Orphanet:262758", "UMLS:C4708597", "icd11.foundation:1325415519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016947", "name": "Partial duplication of the short arm of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 10p", "partial trisomy of chromosome 10p", "partial trisomy of the short arm of chromosome 10"], "xref": ["MEDGEN:1826038", "Orphanet:262776", "UMLS:C5679712", "icd11.foundation:1720386511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016948", "name": "Partial duplication of the short arm of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 11p", "partial duplication of the short arm of chromosome type 11", "partial trisomy of chromosome 11p", "partial trisomy of the short arm of chromosome 11"], "xref": ["MEDGEN:1825972", "Orphanet:262785", "UMLS:C5679716"]}
{"category": ["biolink:Disease"], "description": "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016949", "name": "Partial duplication of the short arm of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 16p", "partial duplication of the short arm of chromosome type 16", "partial trisomy of chromosome 16p", "partial trisomy of the short arm of chromosome 16"], "xref": ["MEDGEN:208643", "Orphanet:262794", "UMLS:C0795861", "icd11.foundation:325064766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016950", "name": "Partial duplication of the short arm of chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 17p", "partial duplication of the short arm of chromosome type 17", "partial trisomy of chromosome 17p", "partial trisomy of the short arm of chromosome 17"], "xref": ["MEDGEN:1826039", "Orphanet:262803", "UMLS:C5679714", "icd11.foundation:1672849162"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016951", "name": "Partial trisomy/tetrasomy of the short arm of chromosome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication/triplication of chromosome 18p", "partial duplication/triplication of the short arm of chromosome 18", "partial trisomy/tetrasomy of chromosome 18p", "partial trisomy/tetrasomy of the short arm of chromosome type 18"], "xref": ["MEDGEN:1826040", "Orphanet:262812", "UMLS:C5679715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016952", "name": "Partial duplication of the long arm of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 1q", "partial duplication of the long arm of chromosome type 1", "partial trisomy of chromosome 1q", "partial trisomy of the long arm of chromosome 1"], "xref": ["MEDGEN:1642329", "NANDO:1200958", "NCIT:C36521", "Orphanet:262833", "UMLS:C4708598", "icd11.foundation:73883755"]}
{"category": ["biolink:Disease"], "description": "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016953", "name": "Partial duplication of the long arm of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 2q", "partial duplication of the long arm of chromosome type 2", "partial trisomy of chromosome 2q", "partial trisomy of the long arm of chromosome 2"], "xref": ["MEDGEN:162771", "MESH:C535367", "Orphanet:262842", "UMLS:C0795805", "icd11.foundation:472179859"]}
{"category": ["biolink:Disease"], "description": "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016954", "name": "Partial duplication of the long arm of chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 3q", "partial duplication of the long arm of chromosome type 3", "partial trisomy of chromosome 3q"], "xref": ["MEDGEN:208636", "MESH:C536813", "Orphanet:262851", "UMLS:C0795809", "icd11.foundation:1132834719"]}
{"category": ["biolink:Disease"], "description": "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016955", "name": "Partial duplication of the long arm of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 4q", "partial duplication of the long arm of chromosome type 4", "partial trisomy of chromosome 4q", "partial trisomy of the long arm of chromosome 4"], "xref": ["DOID:0111159", "MEDGEN:162874", "MESH:C537644", "Orphanet:262860", "UMLS:C0795812", "icd11.foundation:959729903"]}
{"category": ["biolink:Disease"], "description": "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016956", "name": "Partial trisomy of the long arm of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 5q", "partial duplication of the long arm of chromosome 5", "partial trisomy of chromosome 5q", "partial trisomy of the long arm of chromosome type 5"], "xref": ["MEDGEN:315659", "MESH:C537650", "Orphanet:262869", "UMLS:C1802398", "icd11.foundation:722703441"]}
{"category": ["biolink:Disease"], "description": "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016957", "name": "Partial duplication of the long arm of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 6q", "partial duplication of the long arm of chromosome type 6", "partial trisomy of chromosome 6q", "partial trisomy of the long arm of chromosome 6"], "xref": ["MEDGEN:1826037", "MESH:C537812", "Orphanet:262878", "UMLS:C5679708", "icd11.foundation:149091243"]}
{"category": ["biolink:Disease"], "description": "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016958", "name": "Partial duplication of the long arm of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 7q", "partial duplication of the long arm of chromosome type 7", "partial trisomy of chromosome 7q", "partial trisomy of the long arm of chromosome 7"], "xref": ["MEDGEN:208637", "MESH:C537821", "Orphanet:262887", "UMLS:C0795821", "icd11.foundation:462724513"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016959", "name": "Partial duplication of the long arm of chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome 8q", "partial duplication of the long arm of chromosome type 8", "partial trisomy of chromosome 8q", "partial trisomy of the long arm of chromosome 8"], "xref": ["MEDGEN:1826035", "Orphanet:262896", "UMLS:C5679703", "icd11.foundation:397762525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016960", "name": "Partial trisomy of the long arm of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome 9q", "partial duplication of the long arm of chromosome 9", "partial trisomy of chromosome 9q", "partial trisomy of the long arm of chromosome type 9"], "xref": ["MEDGEN:1826034", "Orphanet:262905", "UMLS:C5679702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016961", "name": "Partial duplication of the long arm of chromosome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 10q", "partial trisomy of chromosome 10q", "partial trisomy of the long arm of chromosome 10"], "xref": ["MEDGEN:539251", "Orphanet:262914", "UMLS:C0265437", "icd11.foundation:2004070452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016964", "name": "Partial duplication of the long arm of chromosome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome 14q", "partial duplication of the long arm of chromosome type 14", "partial trisomy of chromosome 14q", "partial trisomy of the long arm of chromosome 14"], "xref": ["GARD:0020884", "MEDGEN:1826036", "Orphanet:262941", "UMLS:C5679704"]}
{"category": ["biolink:Disease"], "description": "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0016965", "name": "Partial duplication of the long arm of chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["partial duplication of chromosome 15q", "partial duplication of the long arm of chromosome type 15", "partial trisomy of chromosome 15q", "partial trisomy of the long arm of chromosome 15"], "xref": ["MEDGEN:167076", "MESH:C538040", "Orphanet:262950", "UMLS:C0795858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016966", "name": "Partial trisomy of the long arm of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 16q", "partial duplication of the long arm of chromosome 16", "partial trisomy of chromosome 16q", "partial trisomy of the long arm of chromosome type 16"], "xref": ["MEDGEN:1797784", "MESH:C538042", "Orphanet:262959", "UMLS:C5566361", "icd11.foundation:126160943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016967", "name": "Partial duplication of the long arm of chromosome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 17q", "partial duplication of the long arm of chromosome type 17", "partial trisomy of chromosome 17q", "partial trisomy of the long arm of chromosome 17"], "xref": ["MEDGEN:1826032", "Orphanet:262968", "UMLS:C5679698", "icd11.foundation:1871996278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016968", "name": "Partial trisomy of the long arm of chromosome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome 18q", "partial duplication of the long arm of chromosome 18", "partial trisomy of chromosome 18q", "partial trisomy of the long arm of chromosome type 18"], "xref": ["MEDGEN:167200", "MESH:C538308", "Orphanet:262977", "UMLS:C0809935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016969", "name": "Partial duplication of the long arm of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 19q", "partial duplication of the long arm of chromosome type 19", "partial trisomy of chromosome 19q", "partial trisomy of the long arm of chromosome 19"], "xref": ["MEDGEN:162782", "MESH:C538311", "Orphanet:262986", "UMLS:C0795871", "icd11.foundation:1595108486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016970", "name": "Partial trisomy of the long arm of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 20q", "partial duplication of the long arm of chromosome 20", "partial trisomy of chromosome 20q", "partial trisomy of the long arm of chromosome type 20"], "xref": ["MEDGEN:1826031", "Orphanet:262995", "UMLS:C5679695", "icd11.foundation:1196484734"]}
{"category": ["biolink:Disease"], "description": "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.", "id": "MONDO:0016971", "name": "Limb-girdle muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["LGMD", "Leyden-Mobius muscular dystrophy", "limb-girdle muscular dystrophy"], "xref": ["DOID:11724", "GARD:0006907", "MEDGEN:151940", "MESH:D049288", "NANDO:1200490", "NANDO:2200858", "NCIT:C84828", "Orphanet:263", "SCTID:78468005", "UMLS:C0686353", "icd11.foundation:887807212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016972", "name": "Partial duplication of the long arm of chromosome 22", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 22q", "partial duplication of the long arm of chromosome type 22", "partial trisomy of chromosome 22q", "partial trisomy of the long arm of chromosome 22"], "xref": ["MEDGEN:1826033", "Orphanet:263004", "UMLS:C5679699"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.", "id": "MONDO:0016974", "name": "Thymoma type b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Dendritic cell thymoma", "dendritic cell thymoma", "dendritic cell thymoma (disease)", "epithelioid thymoma", "plump cell thymoma", "primary thymic epithelial neoplasm type B", "primary thymic epithelial tumor type B", "primary thymic epithelial tumour type B", "thymoma type B"], "xref": ["DOID:3282", "GARD:0020893", "MEDGEN:231253", "NCIT:C7114", "Orphanet:263317", "UMLS:C1328042"]}
{"category": ["biolink:Disease"], "description": "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.", "id": "MONDO:0016975", "name": "Thymoma type ab", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mixed type thymoma", "primary thymic epithelial neoplasm type AB", "primary thymic epithelial tumor type AB", "primary thymic epithelial tumour type AB", "thymoma type AB"], "xref": ["DOID:3280", "EFO:1000582", "GARD:0020894", "ICDO:8582/1", "MEDGEN:220414", "NCIT:C6885", "Orphanet:263324", "UMLS:C1266092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016976", "name": "Well-differentiated thymic neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020895", "MEDGEN:931134", "Orphanet:263331", "SCTID:717922007", "UMLS:C4305465", "icd11.foundation:2004515128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016977", "name": "Moderately-differentiated thymic neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020896", "MEDGEN:1843377", "Orphanet:263335", "UMLS:C5680730", "icd11.foundation:1165208895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016978", "name": "Poorly differentiated thymic neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020897", "MEDGEN:931135", "Orphanet:263339", "SCTID:717921000", "UMLS:C4305466"]}
{"category": ["biolink:Disease"], "description": "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.", "id": "MONDO:0016979", "name": "Mrcs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"], "xref": ["GARD:0017255", "MEDGEN:1666962", "Orphanet:263347", "UMLS:C4749856", "icd11.foundation:392681472"]}
{"category": ["biolink:Disease"], "description": "A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability.", "id": "MONDO:0016980", "name": "Atr-x-related syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ATR-X-related syndrome"], "xref": ["Orphanet:263355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016981", "name": "Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020899", "MEDGEN:1675231", "Orphanet:263410", "UMLS:C5190692"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.", "id": "MONDO:0016982", "name": "Angiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["angiosarcoma", "angiosarcoma (disease)", "blood vessel sarcoma", "hemangiosarcoma", "hemangiosarcoma, malignant", "malignant angioendothelioma", "malignant hemangioendothelioma", "sarcoma of blood vessel", "vascular sarcoma"], "xref": ["DOID:0001816", "EFO:0003968", "GARD:0020900", "HP:0200058", "ICD9:171.9", "ICDO:9120/3", "MEDGEN:42385", "MESH:D006394", "MedDRA:10002476", "NCIT:C3088", "ONCOTREE:ANGS", "Orphanet:263413", "SCTID:403977003", "UMLS:C0018923"]}
{"category": ["biolink:Disease"], "description": "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)", "id": "MONDO:0016983", "name": "Bartter syndrome with hypocalcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bartter syndrome type 5", "Bartter syndrome type V"], "xref": ["GARD:0025084", "MEDGEN:1645787", "Orphanet:263417", "UMLS:C4552089"]}
{"category": ["biolink:Disease"], "description": "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.", "id": "MONDO:0016984", "name": "Nevus of ota", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nevus fusculoceruleus ophthalmomaxillaris", "Ota's Nevus", "oculocutaneous melanocytic Nevus", "oculodermal melanocytosis"], "xref": ["EFO:1000396", "GARD:0020901", "ICD9:224.0", "MEDGEN:14363", "MESH:D009507", "MedDRA:10051713", "NCIT:C7583", "Orphanet:263425", "SCTID:414929001", "UMLS:C0027961"]}
{"category": ["biolink:Disease"], "description": "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.", "id": "MONDO:0016985", "name": "Nevus of ito", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ito's Nevus", "nevi of Ito", "nevus fuscocaeruleus acromiodeltoideus"], "xref": ["EFO:1000395", "GARD:0010830", "NCIT:C7582", "Orphanet:263432"]}
{"category": ["biolink:Disease"], "description": "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.", "id": "MONDO:0016986", "name": "Congenital smooth muscle hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020902", "ICD9:759.6", "MEDGEN:590701", "Orphanet:263435", "SCTID:239144007", "UMLS:C0406819"]}
{"category": ["biolink:Disease"], "description": "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.", "id": "MONDO:0016987", "name": "Neuroacanthocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050765", "GARD:0010902", "MESH:D054546", "NANDO:1200013", "NCIT:C84926", "NORD:1501", "Orphanet:263440", "icd11.foundation:1012724153"]}
{"category": ["biolink:Disease"], "description": "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).", "id": "MONDO:0016988", "name": "Hyperinsulinism due to hnf4a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to HNF4A deficiency"], "xref": ["GARD:0020903", "MEDGEN:894506", "Orphanet:263455", "SCTID:717048002", "UMLS:C4274078"]}
{"category": ["biolink:Disease"], "description": "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.", "id": "MONDO:0016989", "name": "Fuchs heterochromic iridocyclitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FHI", "Fuchs heterochromic cyclitis", "Fuchs heterochromic uveitis", "Fuchs' heterochromic cyclitis", "Fuchs' heterochromic uveitis"], "xref": ["DOID:9375", "GARD:0006791", "ICD10CM:H20.81", "ICD9:364.21", "MEDGEN:507742", "MedDRA:10017406", "Orphanet:263479", "SCTID:11226001", "UMLS:C0016782"]}
{"category": ["biolink:Disease"], "description": "An instance of prothrombin deficiency that is acquired during the lifetime of the individual.", "id": "MONDO:0016990", "name": "Acquired prothrombin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acquired hypoprothrombinemia", "acquired prothrombin deficiency"], "xref": ["GARD:0000475", "MEDGEN:140275", "MESH:C538174", "NCIT:C131622", "Orphanet:26348", "SCTID:4152002", "UMLS:C0392610"]}
{"category": ["biolink:Disease"], "description": "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.", "id": "MONDO:0016991", "name": "Acute necrotizing encephalopathy of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ANEC", "isolated ANE", "isolated acute necrotizing encephalopathy"], "xref": ["GARD:0017257", "MEDGEN:1641610", "Orphanet:263524", "SCTID:763310000", "UMLS:C4706387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0016993", "name": "Generalized peeling skin syndrome type c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["generalised deciduous skin type C", "generalized deciduous skin type C"], "xref": ["GARD:0020904", "Orphanet:263558"]}
{"category": ["biolink:Disease"], "description": "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.", "id": "MONDO:0016994", "name": "Microcephalic osteodysplastic primordial dwarfism types i and iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MOPD types I and III", "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type", "primordial microcephalic dwarfism, Crachami type"], "xref": ["GARD:0005120", "MEDGEN:1380769", "Orphanet:2636", "SCTID:725461009", "UMLS:C4319565"]}
{"category": ["biolink:Disease"], "description": "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.", "id": "MONDO:0016995", "name": "Familial multiple meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017260", "MEDGEN:1644853", "Orphanet:263662", "UMLS:C4707361", "icd11.foundation:160795085"]}
{"category": ["biolink:Disease"], "description": "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.", "id": "MONDO:0016996", "name": "Nk-cell enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020905", "MEDGEN:1379183", "Orphanet:263665", "SCTID:723496007", "UMLS:C4509932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017003", "name": "Partial deletion of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type X", "partial monosomy of chromosome X"], "xref": ["MEDGEN:1826030", "Orphanet:263726", "UMLS:C5679690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017004", "name": "Partial monosomy of the short arm of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome Xp", "partial deletion of the short arm of chromosome X", "partial monosomy of chromosome Xp", "partial monosomy of the short arm of chromosome type X"], "xref": ["MEDGEN:1826029", "Orphanet:263731", "UMLS:C5679689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017007", "name": "Partial deletion of the long arm of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome Xq", "partial deletion of the long arm of chromosome type X", "partial monosomy of chromosome Xq", "partial monosomy of the long arm of chromosome X"], "xref": ["MEDGEN:1826028", "Orphanet:263756", "UMLS:C5679688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017008", "name": "Partial duplication of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome type X", "partial trisomy of chromosome X"], "xref": ["MEDGEN:1825971", "Orphanet:263768", "UMLS:C5679687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017009", "name": "Partial duplication of the short arm of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome Xp", "partial duplication of the short arm of chromosome type X", "partial trisomy of chromosome Xp", "partial trisomy of the short arm of chromosome X"], "xref": ["MEDGEN:1826027", "Orphanet:263775", "UMLS:C5679686"]}
{"category": ["biolink:Disease"], "description": "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0017010", "name": "Partial duplication of the long arm of chromosome x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial duplication of chromosome Xq", "partial duplication of the long arm of chromosome type X", "partial trisomy of chromosome Xq", "partial trisomy of the long arm of chromosome X"], "xref": ["GARD:0005369", "MEDGEN:162887", "MESH:C536732", "Orphanet:263783", "UMLS:C0795891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017012", "name": "Partial duplication of the short arm of chromosome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 1p", "partial duplication of the short arm of chromosome type 1", "partial trisomy of chromosome 1p"], "xref": ["MEDGEN:1826050", "Orphanet:264431", "UMLS:C5679751", "icd11.foundation:774713494"]}
{"category": ["biolink:Disease"], "description": "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.", "id": "MONDO:0017013", "name": "Trisomy 8p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication 8p", "trisomy type 8p"], "xref": ["GARD:0020920", "MEDGEN:167072", "MESH:C538019", "Orphanet:264450", "UMLS:C0795825"]}
{"category": ["biolink:Disease"], "description": "A interstitial lung disease that occurs during childhood.", "id": "MONDO:0017014", "name": "Interstitial lung disease specific to childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["ILD specific to childhood", "childhood interstitial lung disease", "interstitial lung disease of childhood", "paediatric interstitial lung disease", "pediatric interstitial lung disease"], "xref": ["MEDGEN:1842412", "Orphanet:264656", "SCTID:328661000119108", "UMLS:C5679752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017015", "name": "Primary interstitial lung disease specific to childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["primary ILD specific to childhood", "primary interstitial lung disease specific to childhood"], "xref": ["GARD:0010559", "MEDGEN:853969", "Orphanet:264665", "UMLS:C3161253", "icd11.foundation:1408868257"]}
{"category": ["biolink:Disease"], "description": "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.", "id": "MONDO:0017018", "name": "Isolated pulmonary capillaritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020924", "ICD9:448.9", "MEDGEN:842738", "Orphanet:264691", "SCTID:707436001", "UMLS:C3873357", "icd11.foundation:1607123556", "icd11.foundation:1610022220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017019", "name": "Interstitial lung disease specific to infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["ILD specific to infancy"], "xref": ["MEDGEN:1842984", "Orphanet:264694", "UMLS:C5679737"]}
{"category": ["biolink:Disease"], "description": "Langerhans cell histiocytosis that occurs during childhood.", "id": "MONDO:0017025", "name": "Langerhans cell histiocytosis specific to childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Langerhans cell granulomatosis specific to childhood", "childhood Langerhans cell histiocytosis", "histiocytosis X specific to childhood"], "xref": ["GARD:0025085", "MEDGEN:859249", "NANDO:2200031", "NCIT:C114483", "Orphanet:264724", "UMLS:C3899655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017026", "name": "Interstitial lung disease specific to adulthood", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["ILD specific to adulthood"], "xref": ["MEDGEN:1842399", "Orphanet:264735", "UMLS:C5679743"]}
{"category": ["biolink:Disease"], "description": "Langerhans cell histiocytosis that occurs during adulthood.", "id": "MONDO:0017029", "name": "Langerhans cell histiocytosis specific to adulthood", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Langerhans cell granulomatosis specific to adulthood", "adult Langerhans cell histiocytosis", "histiocytosis X specific to adulthood"], "xref": ["GARD:0025086", "MEDGEN:859694", "NANDO:2200031", "NCIT:C114929", "Orphanet:264750", "UMLS:C3900100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017039", "name": "Drug or radiation exposure-related interstitial lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020942", "MEDGEN:1843006", "Orphanet:264978", "UMLS:C5680746"]}
{"category": ["biolink:Disease"], "description": "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.", "id": "MONDO:0017041", "name": "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome"], "xref": ["GARD:0018776", "Orphanet:2653", "SCTID:722108000"]}
{"category": ["biolink:Disease"], "description": "A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.", "id": "MONDO:0017042", "name": "Thanatophoric dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FGFR3-related thanatophoric dysplasia", "TD", "thanatophoric dwarfism"], "xref": ["DOID:13481", "GARD:0000085", "ICD9:259.4", "MEDGEN:21124", "MESH:D013796", "MedDRA:10049808", "NANDO:1200874", "NCIT:C85187", "Orphanet:2655", "SCTID:29352008", "UMLS:C0039743", "icd11.foundation:1668919215"]}
{"category": ["biolink:Disease"], "description": "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.", "id": "MONDO:0017043", "name": "Congenital mesoblastic nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMN", "CMn", "congenital mesoblastic nephroma", "stromal nephroma, malignant"], "xref": ["DOID:4773", "GARD:0001493", "ICDO:8960/1", "MEDGEN:232058", "MedDRA:10070665", "NCIT:C6569", "Orphanet:2665", "UMLS:C1332965", "icd11.foundation:2001572901"]}
{"category": ["biolink:Disease"], "description": "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.", "id": "MONDO:0017044", "name": "Adult familial nephronophthisis-spastic quadriparesia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018777", "MEDGEN:1385988", "Orphanet:2666", "UMLS:C4518090"]}
{"category": ["biolink:Disease"], "description": "Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.", "id": "MONDO:0017045", "name": "Neuroectodermal-endocrine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Oerter-Friedman-Anderson syndrome"], "xref": ["GARD:0003959", "Orphanet:2676", "SCTID:724090001"]}
{"category": ["biolink:Disease"], "description": "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.", "id": "MONDO:0017046", "name": "Neuroepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003963", "Orphanet:2677", "icd11.foundation:841824628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017047", "name": "Infantile axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "xref": ["Orphanet:2679"]}
{"category": ["biolink:Disease"], "description": "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.", "id": "MONDO:0017048", "name": "Pseudomyxoma peritonei", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Adenomucinosis", "Myxoma peritonei", "PMP", "gelatinous ascites", "mucinous ascites", "peritoneal cavity pseudomyxoma peritonei", "pseudomyxoma peritonei", "pseudomyxoma peritonei (morphologic abnormality)", "well differentiated peritoneal mucinous adenocarcinoma"], "xref": ["DOID:3559", "GARD:0007488", "ICDO:8480/6", "MEDGEN:18726", "MESH:D011553", "MedDRA:10037138", "NCIT:C3345", "NORD:1628", "Orphanet:26790", "SCTID:307601000", "UMLS:C0033822", "icd11.foundation:1849365560"]}
{"category": ["biolink:Disease"], "description": "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.", "id": "MONDO:0017050", "name": "Intraocular medulloepithelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intraocular medulloepithelioma", "orbital medulloepithelioma"], "xref": ["GARD:0020945", "MEDGEN:408140", "NCIT:C66806", "Orphanet:268139", "UMLS:C1883694"]}
{"category": ["biolink:Disease"], "description": "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.", "id": "MONDO:0017051", "name": "Classic maple syrup urine disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic BCKD deficiency", "classic MSUD", "classic branched-chain 2-ketoacid dehydrogenase deficiency", "classic branched-chain alpha-ketoacid dehydrogenase deficiency", "classic branched-chain ketoaciduria", "classic maple syrup urine disease"], "xref": ["GARD:0017263", "MEDGEN:78689", "NANDO:2201078", "Orphanet:268145", "UMLS:C0268568"]}
{"category": ["biolink:Disease"], "description": "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.", "id": "MONDO:0017052", "name": "Intermediate maple syrup urine disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Intermediate BCKD deficiency", "Intermediate MSUD", "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency", "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency", "intermediate maple syrup urine disease"], "xref": ["GARD:0017264", "MEDGEN:301223", "NANDO:2201079", "Orphanet:268162", "SCTID:405287008", "UMLS:C1621920"]}
{"category": ["biolink:Disease"], "description": "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.", "id": "MONDO:0017053", "name": "Intermittent maple syrup urine disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["intermittent BCKD deficiency", "intermittent MSUD", "intermittent branched-chain 2-ketoacid dehydrogenase deficiency", "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency", "intermittent maple syrup urine disease"], "xref": ["GARD:0017265", "MEDGEN:78690", "NANDO:2201080", "Orphanet:268173", "SCTID:405288003", "UMLS:C0268569"]}
{"category": ["biolink:Disease"], "description": "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.", "id": "MONDO:0017054", "name": "Thiamine-responsive maple syrup urine disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["thiamine-responsive BCKD deficiency", "thiamine-responsive MSUD", "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency", "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency", "thiamine-responsive maple syrup urine disease"], "xref": ["GARD:0017266", "MEDGEN:199627", "NANDO:2201081", "Orphanet:268184", "UMLS:C0751285"]}
{"category": ["biolink:Disease"], "description": "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.", "id": "MONDO:0017055", "name": "Mycophenolate mofetil embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MMF embryopathy"], "xref": ["MEDGEN:1387699", "Orphanet:268249", "SCTID:723406000", "UMLS:C4509879", "icd11.foundation:2111105927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017056", "name": "Dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["21q22.13-q22.2 microdeletion syndrome", "21q22.13q22.2 microdeletion syndrome", "Del(21)(q22.13q22.2)", "monosomy 21q22.13-q22.2", "monosomy 21q22.13q22.2"], "xref": ["GARD:0020947", "MEDGEN:1673021", "Orphanet:268261", "UMLS:C5191008"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.", "id": "MONDO:0017058", "name": "Autosomal recessive intermediate charcot-marie-tooth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["RI-CMT", "autosomal recessive intermediate Charcot-Marie-Tooth disease", "intermediate Charcot-Marie-Tooth disease, autosomal recessive"], "xref": ["GARD:0012452", "MEDGEN:1843095", "Orphanet:268337", "UMLS:C5679732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017060", "name": "Open iniencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020949", "MEDGEN:608900", "Orphanet:268363", "SCTID:203928008", "UMLS:C0431285", "icd11.foundation:1778329323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017061", "name": "Closed iniencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020950", "MEDGEN:608901", "Orphanet:268366", "SCTID:203927003", "UMLS:C0431286", "icd11.foundation:1780502952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017062", "name": "Spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020951", "MEDGEN:181490", "Orphanet:268369", "SCTID:58557008", "UMLS:C0917813", "icd11.foundation:187581000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017063", "name": "Total spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020952", "Orphanet:268377", "icd11.foundation:910194123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017064", "name": "Thoracolumbosacral spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020953", "MEDGEN:1732917", "Orphanet:268384", "UMLS:C5439435", "icd11.foundation:2108603667"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017065", "name": "Lumbosacral spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020954", "MEDGEN:1748032", "Orphanet:268388", "UMLS:C5439434", "icd11.foundation:417689735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017066", "name": "Cervical spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020955", "ICD9:741.91", "MEDGEN:743641", "Orphanet:268392", "SCTID:425687007", "UMLS:C1960883", "icd11.foundation:151252460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017067", "name": "Cervicothoracic spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020956", "MEDGEN:1770642", "Orphanet:268397", "UMLS:C5439433", "icd11.foundation:572666703"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017068", "name": "Upper thoracic spina bifida aperta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020957", "MEDGEN:1741862", "Orphanet:268740", "UMLS:C5439507", "icd11.foundation:772010291"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.", "id": "MONDO:0017069", "name": "Spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["meningomyelocele"], "xref": ["GARD:0020958", "MEDGEN:21277", "MESH:D016137", "MedDRA:10071011", "NANDO:1200509", "NANDO:2100215", "NANDO:2200814", "NCIT:C101201", "Orphanet:268744", "UMLS:C0037917", "icd11.foundation:979482551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017070", "name": "Total spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020959", "Orphanet:268748"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017071", "name": "Thoracolumbosacral spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020960", "Orphanet:268752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017072", "name": "Lumbosacral spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020961", "Orphanet:268758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017073", "name": "Cervical spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020962", "Orphanet:268762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017074", "name": "Cervicothoracic spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020963", "Orphanet:268766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017075", "name": "Upper thoracic spina bifida cystica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0020964", "Orphanet:268770"]}
{"category": ["biolink:Disease"], "description": "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.", "id": "MONDO:0017076", "name": "Posterior meningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020965", "MEDGEN:1806905", "Orphanet:268810", "UMLS:C5680741", "icd11.foundation:1464755755"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017077", "name": "Myelocystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0020966", "MEDGEN:1639659", "Orphanet:268813", "SCTID:203994003", "UMLS:C4551677", "icd11.foundation:863949070"]}
{"category": ["biolink:Disease"], "description": "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.", "id": "MONDO:0017078", "name": "Cephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cephalocele", "cephalocele (disease)", "cranium bifidum", "encephalocele"], "xref": ["GARD:0020967", "HP:0011815", "ICD10CM:Q01", "ICD9:742.0", "MEDGEN:4934", "NCIT:C84687", "Orphanet:268817", "SCTID:55999004", "UMLS:C0014065", "icd11.foundation:1520916568"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which the meninges protrude through a defect in the cranium.", "id": "MONDO:0017079", "name": "Meningoencephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain meninx cephalocele (disease)", "cephalocele (disease) of brain meninx", "meningoencephalocele"], "xref": ["GARD:0020968", "MEDGEN:82743", "NANDO:2200813", "NCIT:C124517", "Orphanet:268820", "SCTID:52330001", "UMLS:C0266456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017080", "name": "Occipital encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020969", "ICD10CM:Q01.2", "MEDGEN:4935", "Orphanet:268823", "SCTID:42376006", "UMLS:C0014067", "icd11.foundation:1075031814"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017081", "name": "Parietal encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020970", "MEDGEN:488903", "Orphanet:268826", "SCTID:253109005", "UMLS:C0431294", "icd11.foundation:1122294944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017082", "name": "Basal encephalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020971", "MEDGEN:868771", "Orphanet:268829", "UMLS:C4023176", "icd11.foundation:533416539"]}
{"category": ["biolink:Disease"], "description": "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.", "id": "MONDO:0017084", "name": "Leptomyelolipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0020973", "MEDGEN:1657711", "Orphanet:268838", "UMLS:C4749649", "icd11.foundation:1479116207"]}
{"category": ["biolink:Disease"], "description": "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.", "id": "MONDO:0017086", "name": "Primary tethered cord syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tethered Cord Syndrome", "primary tethered spinal cord syndrome"], "xref": ["GARD:0004018", "MEDGEN:1636724", "NORD:1762", "Orphanet:268861", "SCTID:70534000", "UMLS:C4708602", "icd11.foundation:66705662"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017087", "name": "Neurenteric cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020975", "MEDGEN:14343", "Orphanet:268865", "UMLS:C0027806", "icd11.foundation:172158971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017088", "name": "Isolated amyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020976", "MEDGEN:451024", "Orphanet:268868", "UMLS:C0266510", "icd11.foundation:1787577133"]}
{"category": ["biolink:Disease"], "description": "A megalencephaly (disease) that is not part of a larger syndrome.", "id": "MONDO:0017089", "name": "Isolated megalencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated macrencephaly", "isolated megalencephaly (disease)", "nonsyndromic megalencephaly (disease)"], "xref": ["GARD:0020977", "MEDGEN:439426", "Orphanet:2477", "Orphanet:268920", "UMLS:C2720434"]}
{"category": ["biolink:Disease"], "description": "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.", "id": "MONDO:0017091", "name": "Bilateral polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017269", "MEDGEN:1647593", "Orphanet:268940", "SCTID:765757003", "UMLS:C4707565", "icd11.foundation:422828750"]}
{"category": ["biolink:Disease"], "description": "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.", "id": "MONDO:0017092", "name": "Unilateral polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020980", "MEDGEN:870513", "Orphanet:268943", "SCTID:715905006", "UMLS:C4024960", "icd11.foundation:782302128"]}
{"category": ["biolink:Disease"], "description": "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.", "id": "MONDO:0017093", "name": "Unilateral focal polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080919", "GARD:0020981", "MEDGEN:1842371", "Orphanet:268947", "UMLS:C5680773", "icd11.foundation:1006662041"]}
{"category": ["biolink:Disease"], "description": "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.", "id": "MONDO:0017094", "name": "Cerebral cortical dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["brain cortical dysplasia", "cortical dysplasia"], "xref": ["GARD:0020982", "MEDGEN:98129", "MESH:D054220", "NCIT:C42088", "Orphanet:268950", "SCTID:253153000", "UMLS:C0431380", "icd11.foundation:1352548261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017095", "name": "Isolated focal cortical dysplasia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FCD type I"], "xref": ["GARD:0020983", "MEDGEN:1843077", "Orphanet:268961", "UMLS:C5679772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017096", "name": "Isolated focal cortical dysplasia type ia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FCD type Ia"], "xref": ["GARD:0020984", "MEDGEN:1843115", "NANDO:1200565", "Orphanet:268973", "UMLS:C5679767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017097", "name": "Isolated focal cortical dysplasia type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["FCD type IB"], "xref": ["GARD:0020985", "MEDGEN:1842666", "NANDO:1200566", "Orphanet:268980", "UMLS:C5679765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017098", "name": "Isolated focal cortical dysplasia type ic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["FCD type Ic"], "xref": ["GARD:0020986", "MEDGEN:1842276", "NANDO:1200567", "Orphanet:268987", "UMLS:C5679766"]}
{"category": ["biolink:Disease"], "description": "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.", "id": "MONDO:0017100", "name": "Neutropenia-monocytopenia-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0003982", "MEDGEN:1383523", "Orphanet:2690", "UMLS:C4518430"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017101", "name": "Isolated focal cortical dysplasia type iia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FCD type IIa"], "xref": ["GARD:0017270", "MEDGEN:375876", "NANDO:1200568", "Orphanet:269001", "UMLS:C1846386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017102", "name": "Isolated focal cortical dysplasia type iib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FCD type IIb"], "xref": ["GARD:0017271", "MEDGEN:1842232", "NANDO:1200569", "Orphanet:269008", "UMLS:C5679768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017103", "name": "Encephaloclastic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0020987", "MEDGEN:1843179", "Orphanet:269190", "UMLS:C5680772", "icd11.foundation:1436588898"]}
{"category": ["biolink:Disease"], "description": "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).", "id": "MONDO:0017105", "name": "Glioependymal/ependymal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020989", "MEDGEN:90929", "Orphanet:269197", "UMLS:C0338599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017106", "name": "Retrocerebellar cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["Retrocerebellar arachnoid cyst", "Retrocerebellar cyst", "retrocerebellar cyst (disease)"], "xref": ["GARD:0025087", "HP:0006951", "MEDGEN:335172", "Orphanet:269200", "UMLS:C1845370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017107", "name": "Isolated cerebellar vermis agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020990", "MEDGEN:1814464", "Orphanet:269203", "UMLS:C5680776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017108", "name": "Isolated total cerebellar vermis agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020991", "MEDGEN:1842540", "Orphanet:269206", "UMLS:C5680781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017109", "name": "Isolated partial cerebellar vermis agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020992", "MEDGEN:1842645", "Orphanet:269209", "UMLS:C5680780"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017110", "name": "Isolated dandy-walker malformation with hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0020993", "MEDGEN:1842616", "Orphanet:269212", "UMLS:C5680779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017111", "name": "Isolated dandy-walker malformation without hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020994", "MEDGEN:1842486", "Orphanet:269215", "UMLS:C5680778"]}
{"category": ["biolink:Disease"], "description": "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.", "id": "MONDO:0017112", "name": "Isolated unilateral hemispheric cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020995", "MEDGEN:1638819", "Orphanet:269218", "SCTID:766934006", "UMLS:C4707885", "icd11.foundation:1960392411"]}
{"category": ["biolink:Disease"], "description": "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.", "id": "MONDO:0017113", "name": "Isolated bilateral hemispheric cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020996", "MEDGEN:1657026", "Orphanet:269221", "UMLS:C4749791", "icd11.foundation:1366151963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017116", "name": "Congenital communicating hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["congenital non-obstructive hydrocephalus"], "xref": ["GARD:0020998", "MEDGEN:1842324", "Orphanet:269505", "UMLS:C5679774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017117", "name": "Congenital non-communicating hydrocephalus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["congenital obstructive hydrocephalus"], "xref": ["GARD:0017272", "MEDGEN:1616373", "Orphanet:269510", "SCTID:762295002", "UMLS:C4546092"]}
{"category": ["biolink:Disease"], "description": "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.", "id": "MONDO:0017123", "name": "Arthrogryposis-renal dysfunction-cholestasis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARC syndrome", "arthrogryposis, renal dysfunction, and cholestasis"], "xref": ["DOID:0050763", "GARD:0000794", "MEDGEN:1647210", "MESH:C535382", "OMIMPS:208085", "Orphanet:2697", "SCTID:720513002", "UMLS:C4551984"]}
{"category": ["biolink:Disease"], "description": "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.", "id": "MONDO:0017124", "name": "Noma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cancrum oris", "gangrenous stomatitis"], "xref": ["DOID:9672", "EFO:1001063", "GARD:0004001", "ICD10CM:A69.0", "ICD9:528.1", "MEDGEN:10366", "MESH:D009625", "MedDRA:10029502", "NCIT:C34852", "Orphanet:2700", "SCTID:18116006", "UMLS:C0028271", "icd11.foundation:340823130"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017126", "name": "Oculo-skeletal-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:2716"]}
{"category": ["biolink:Disease"], "description": "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.", "id": "MONDO:0017134", "name": "Odonto-onycho dysplasia-alopecia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004051", "MEDGEN:1648007", "Orphanet:2722", "UMLS:C4706599"]}
{"category": ["biolink:Disease"], "description": "Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.", "id": "MONDO:0017135", "name": "Olivopontocerebellar atrophy-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004070", "MEDGEN:905095", "Orphanet:2732", "UMLS:C4275113"]}
{"category": ["biolink:Disease"], "description": "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.", "id": "MONDO:0017136", "name": "Omodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060288", "GARD:0016608", "MEDGEN:1388973", "OMIMPS:258315", "Orphanet:2733", "SCTID:725164008", "UMLS:C4510897", "icd11.foundation:1081897527"]}
{"category": ["biolink:Disease"], "description": "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.", "id": "MONDO:0017137", "name": "Onchocerciasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Onchocerca volvulus infection", "infection by Onchocerca volvulus", "onchocerciasis"], "xref": ["DOID:11678", "EFO:0007402", "GARD:0007252", "ICD10CM:B73", "ICD10WHO:B73", "ICD9:125.3", "MEDGEN:14477", "MESH:D009855", "MedDRA:10030314", "MedDRA:10039202", "NCIT:C34861", "Orphanet:2737", "SCTID:38539003", "UMLS:C0029001", "icd11.foundation:106136071"]}
{"category": ["biolink:Disease"], "description": "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).", "id": "MONDO:0017138", "name": "Opitz g/bbb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Opitz G syndrome", "Opitz G/BBB syndrome", "Opitz GBBB syndrome", "Opitz syndrome", "Opitz-Frias syndrome", "Opitz-GBBB syndrome", "hypertelorism-oesophageal abnormality-hypospadias syndrome", "hypospadias-dysphagia syndrome", "hypospadias-hypertelorism syndrome"], "xref": ["DOID:0050780", "DOID:0080697", "GARD:0000193", "ICD9:758.89", "NCIT:C125487", "OMIMPS:300000", "Orphanet:2745", "SCTID:81771002"]}
{"category": ["biolink:Disease"], "description": "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).", "id": "MONDO:0017139", "name": "Oromandibular-limb hypogenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Oroacral syndrome"], "xref": ["GARD:0004116", "MEDGEN:1843329", "Orphanet:2749", "UMLS:C5679764", "icd11.foundation:1665391511"]}
{"category": ["biolink:Disease"], "description": "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.", "id": "MONDO:0017140", "name": "L1 syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRASH syndrome", "L1 syndrome", "L1CAM syndrome", "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome"], "xref": ["GARD:0012524", "MEDGEN:1830362", "NORD:1343", "Orphanet:275543", "UMLS:C5779710", "icd11.foundation:1457804873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017145", "name": "Beta-thalassemia and related diseases", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021023", "MEDGEN:1826095", "Orphanet:275749", "UMLS:C5680748"]}
{"category": ["biolink:Disease"], "description": "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.", "id": "MONDO:0017148", "name": "Heritable pulmonary arterial hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["FPAH", "HPAH", "HpaH", "familial pulmonary arterial hypertension", "hereditary pulmonary arterial hypertension"], "xref": ["GARD:0011914", "MEDGEN:90953", "NANDO:2201047", "NCIT:C121945", "OMIMPS:178600", "Orphanet:275777", "SCTID:697897003", "UMLS:C0340543", "icd11.foundation:943760810"]}
{"category": ["biolink:Disease"], "description": "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.", "id": "MONDO:0017149", "name": "Drug- or toxin-induced pulmonary arterial hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["drug- or toxin-induced PAH"], "xref": ["EFO:0009192", "GARD:0021026", "MEDGEN:573792", "Orphanet:275786", "UMLS:C0340544"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017157", "name": "Pulmonary hypertension owing to lung disease and/or hypoxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["PH due to lung disease and/or hypoxia", "PH owing to lung disease and/or hypoxia", "pulmonary hypertension due to lung disease and/or hypoxia"], "xref": ["GARD:0021034", "ICD9:416.8", "MEDGEN:785400", "Orphanet:275837", "SCTID:697910001", "UMLS:C3698136"]}
{"category": ["biolink:Disease"], "description": "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.", "id": "MONDO:0017160", "name": "Behavioral variant of frontotemporal dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bv-FTD"], "xref": ["GARD:0007392", "MEDGEN:860225", "NANDO:1200549", "Orphanet:275864", "SCTID:716994006", "UMLS:C4011788"]}
{"category": ["biolink:Disease"], "description": "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.", "id": "MONDO:0017161", "name": "Frontotemporal dementia with motor neuron disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FTD-ALS", "FTD-MND", "FTDALS", "frontotemporal dementia with ALS", "frontotemporal dementia with amyotrophic lateral sclerosis"], "xref": ["GARD:0017273", "MEDGEN:854771", "MESH:C566288", "OMIMPS:105550", "Orphanet:275872", "UMLS:C3888102", "icd11.foundation:1171850356"]}
{"category": ["biolink:Disease"], "description": "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.", "id": "MONDO:0017162", "name": "Imperforate oropharynx-costo vetebral anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Seghers syndrome"], "xref": ["GARD:0002989", "MEDGEN:1663228", "Orphanet:2759", "UMLS:C4749770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017164", "name": "Hemolytic disease of the newborn with kell alloimmunization", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anti-K HDN", "maternal anti-Kell alloimmunization"], "xref": ["GARD:0021038", "MEDGEN:632769", "Orphanet:275944", "UMLS:C0472751"]}
{"category": ["biolink:Disease"], "description": "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.", "id": "MONDO:0017165", "name": "Bile acid coa ligase deficiency and defective amidation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021041", "MEDGEN:905864", "Orphanet:276066", "SCTID:717047007", "UMLS:C4274079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017167", "name": "Malignant epithelial tumor of salivary glands", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021043", "MEDGEN:1674486", "Orphanet:276145", "UMLS:C5190832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017168", "name": "Benign epithelial tumor of salivary glands", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017274", "MEDGEN:1684009", "Orphanet:276148", "UMLS:C5190858"]}
{"category": ["biolink:Disease"], "description": "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.", "id": "MONDO:0017169", "name": "Multiple endocrine neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MEN", "men syndrome", "men syndromes", "multiple endocrine adenomatosis", "multiple endocrine neoplasia", "multiple endocrine neoplasia syndrome", "multiple endocrine neoplasia syndrome(s)"], "xref": ["DOID:3125", "GARD:0021044", "ICD10CM:E31.2", "ICD9:258.0", "ICDO:8360/1", "MEDGEN:45036", "MESH:D009377", "MedDRA:10061299", "NANDO:2100148", "NCIT:C6432", "OMIMPS:131100", "Orphanet:276161", "SCTID:46724008", "UMLS:C0027662"]}
{"category": ["biolink:Disease"], "description": "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.", "id": "MONDO:0017170", "name": "Idiopathic recurrent stupor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021045", "MEDGEN:1645620", "Orphanet:276174", "SCTID:763739002", "UMLS:C4706562", "icd11.foundation:1473114049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017171", "name": "Mucopolysaccharidosis type 6, rapidly progressing", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPS6, rapidly progressing", "MPSVI, rapidly progressing", "arylsulfatase B deficiency, rapidly progressing", "mucopolysaccharidosis type VI, rapidly progressing"], "xref": ["GARD:0021046", "MEDGEN:1842485", "Orphanet:276212", "SCTID:58263000", "UMLS:C5679781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017172", "name": "Mucopolysaccharidosis type 6, slowly progressing", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MPS6, slowly progressing", "MPSVI, slowly progressing", "arylsulfatase B deficiency, slowly progressing", "mucopolysaccharidosis type VI, slowly progressing"], "xref": ["GARD:0021047", "MEDGEN:1842694", "Orphanet:276223", "SCTID:67854007", "UMLS:C5679780"]}
{"category": ["biolink:Disease"], "description": "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.", "id": "MONDO:0017174", "name": "Machado-joseph disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SCA3, Joseph type", "azorean disease, type i", "spinocerebellar ataxia type 3, Joseph type"], "xref": ["GARD:0021048", "MEDGEN:155610", "Orphanet:276238", "SCTID:91953003", "UMLS:C0751668", "icd11.foundation:1094680019"]}
{"category": ["biolink:Disease"], "description": "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.", "id": "MONDO:0017175", "name": "Machado-joseph disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SCA3, Thomas type", "azorean disease, type ii", "spinocerebellar ataxia, Thomas type"], "xref": ["GARD:0021049", "MEDGEN:199707", "Orphanet:276241", "SCTID:91954009", "UMLS:C0751669", "icd11.foundation:1775824880"]}
{"category": ["biolink:Disease"], "description": "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.", "id": "MONDO:0017176", "name": "Machado-joseph disease type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SCA3, Machado type", "azorean disease, type iii", "spinocerebellar ataxia type 3, Machado type"], "xref": ["GARD:0021050", "MEDGEN:155611", "Orphanet:276244", "SCTID:91955005", "UMLS:C0751670", "icd11.foundation:1540439031"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.", "id": "MONDO:0017177", "name": "Hemihyperplasia-multiple lipomatosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHML"], "xref": ["GARD:0021051", "MEDGEN:1651269", "Orphanet:276280", "UMLS:C4749904"]}
{"category": ["biolink:Disease"], "description": "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.", "id": "MONDO:0017178", "name": "Osteochondritis dissecans", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Koenig disease", "Konig disease", "König disease", "OD", "osteochondritis dissecans", "osteochondritis dissecans (disease)"], "xref": ["DOID:84", "GARD:0012703", "HP:0010886", "ICD10CM:M93.2", "ICD9:732.7", "MEDGEN:10494", "MESH:D010008", "MedDRA:10031231", "NCIT:C34878", "NORD:111730", "Orphanet:2764", "SCTID:82562007", "UMLS:C0029421", "icd11.foundation:467851106"]}
{"category": ["biolink:Disease"], "description": "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.", "id": "MONDO:0017179", "name": "Limbic encephalitis with caspr2 antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025088", "MEDGEN:1634906", "Orphanet:276402", "SCTID:763793004", "UMLS:C4706582"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017180", "name": "10q22.3q23.3 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(10)(q22.3q23.3)", "trisomy 10q22.3q23.3"], "xref": ["GARD:0021052", "MEDGEN:1682781", "Orphanet:276422", "UMLS:C5190512"]}
{"category": ["biolink:Disease"], "description": "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.", "id": "MONDO:0017181", "name": "Hypnic headache", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hypnic headache", "hypnic headache (disease)"], "xref": ["GARD:0010796", "HP:0012459", "ICD10CM:G44.81", "ICD9:339.81", "MEDGEN:156012", "MESH:D051270", "Orphanet:276429", "SCTID:122711000119109", "UMLS:C0752150", "icd11.foundation:468065426"]}
{"category": ["biolink:Disease"], "description": "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017182", "name": "Familial hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["FHI", "HHI", "familial hyperinsulinemic hypoglycemia", "hereditary hyperinsulinism (disease)", "hyperinsulinemia of infancy", "neonatal hyperinsulinism", "nesidioblastosis"], "xref": ["GARD:0021053", "MEDGEN:854723", "NANDO:2100143", "NANDO:2200399", "NCIT:C131425", "Orphanet:276525", "UMLS:C3888018"]}
{"category": ["biolink:Disease"], "description": "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.", "id": "MONDO:0017183", "name": "Hyperinsulinism due to ucp2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to UCP2 deficiency"], "xref": ["GARD:0021054", "MEDGEN:928751", "Orphanet:276556", "SCTID:721834007", "UMLS:C4303082"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).", "id": "MONDO:0017184", "name": "Autosomal dominant hyperinsulinism due to sur1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"], "xref": ["GARD:0017283", "MEDGEN:900764", "Orphanet:276575", "SCTID:717046003", "UMLS:C4274080"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).", "id": "MONDO:0017185", "name": "Autosomal dominant hyperinsulinism due to kir6.2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency", "dominant KATP hyperinsulinism due to Kir6.2 deficiency"], "xref": ["GARD:0017284", "MEDGEN:903936", "Orphanet:276580", "SCTID:717045004", "UMLS:C4274081"]}
{"category": ["biolink:Disease"], "description": "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.", "id": "MONDO:0017186", "name": "Diazoxide-resistant hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["diazoxide-resistant hyperinsulinemic hypoglycemia"], "xref": ["GARD:0021055", "MEDGEN:1842507", "Orphanet:276585", "UMLS:C5679778"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017187", "name": "Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"], "xref": ["GARD:0017285", "MEDGEN:1683284", "Orphanet:276598", "UMLS:C5191059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017188", "name": "Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"], "xref": ["GARD:0017286", "MEDGEN:1673560", "Orphanet:276603", "UMLS:C5191060"]}
{"category": ["biolink:Disease"], "description": "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide", "id": "MONDO:0017189", "name": "Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NI-PHH"], "xref": ["GARD:0021056", "MEDGEN:907576", "Orphanet:276608", "SCTID:717044000", "UMLS:C4274082"]}
{"category": ["biolink:Disease"], "description": "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.", "id": "MONDO:0017190", "name": "Sporadic pheochromocytoma/secreting paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0007385", "MEDGEN:1636854", "Orphanet:276621", "UMLS:C4707333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017191", "name": "Sporadic pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025089", "Orphanet:276624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017192", "name": "Sporadic secreting paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025090", "Orphanet:276627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017193", "name": "Symptomatic form of coffin-lowry syndrome in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021057", "MEDGEN:1814465", "Orphanet:276630", "UMLS:C5680787"]}
{"category": ["biolink:Disease"], "description": "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.", "id": "MONDO:0017194", "name": "Blount disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Blount disease", "Blount's disease", "Osteochondrosis deformans tibiae", "infantile tibia vara", "tibia vara Blount"], "xref": ["DOID:14798", "GARD:0000916", "ICD9:736.89", "MEDGEN:104499", "MESH:C536237", "MedDRA:10072255", "NCIT:C118460", "Orphanet:2768", "SCTID:79353000", "UMLS:C0175756", "icd11.foundation:138830223"]}
{"category": ["biolink:Disease"], "description": "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.", "id": "MONDO:0017195", "name": "Bruck syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["osteogenesis imperfecta-congenital joint contractures syndrome"], "xref": ["DOID:0060231", "GARD:0001029", "ICD9:733.99", "MEDGEN:609420", "MedDRA:10063718", "OMIMPS:259450", "Orphanet:2771", "SCTID:254113006", "UMLS:C0432253", "icd11.foundation:1783996418"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.", "id": "MONDO:0017196", "name": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Al Gazali-Nair syndrome"], "xref": ["GARD:0000587", "MEDGEN:928493", "MESH:C535617", "Orphanet:2773", "SCTID:722110003", "UMLS:C4302824"]}
{"category": ["biolink:Disease"], "description": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.", "id": "MONDO:0017197", "name": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Whyte-Murphy syndrome"], "xref": ["GARD:0005562", "MEDGEN:419711", "MESH:C536054", "Orphanet:2779", "UMLS:C2931096"]}
{"category": ["biolink:Disease"], "description": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.", "id": "MONDO:0017198", "name": "Osteopetrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Albers-Schonberg disease", "marble bone disease", "marble bones", "osteopetrosis", "osteopetrosis (disease)"], "xref": ["DOID:13533", "GARD:0004155", "HP:0011002", "ICD10CM:Q78.2", "ICD9:756.52", "MEDGEN:18223", "MESH:D010022", "MedDRA:10031280", "NANDO:1200998", "NANDO:2201013", "NCIT:C26840", "NORD:1538", "Orphanet:2781", "SCTID:1926006", "UMLS:C0029454", "icd11.foundation:1498426606"]}
{"category": ["biolink:Disease"], "description": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.", "id": "MONDO:0017199", "name": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["Heide syndrome"], "xref": ["GARD:0018778", "Orphanet:2787", "SCTID:716189005"]}
{"category": ["biolink:Disease"], "description": "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.", "id": "MONDO:0017200", "name": "Polycystic ovaries-urethral sphincter dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fowler-Christmas-Chapple syndrome"], "xref": ["GARD:0002365", "MEDGEN:419813", "MESH:C537271", "Orphanet:2795", "UMLS:C2931462"]}
{"category": ["biolink:Disease"], "description": "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.", "id": "MONDO:0017201", "name": "Spasmus nutans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Spasmus nutans", "Spasmus nutans (disease)"], "xref": ["GARD:0021058", "HP:0010533", "MEDGEN:154280", "MedDRA:10059593", "Orphanet:279882", "SCTID:400948003", "UMLS:C0546878", "icd11.foundation:1868433558"]}
{"category": ["biolink:Disease"], "description": "Acute form of endophthalmitis.", "id": "MONDO:0017202", "name": "Acute endophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["endophthalmitis, acute"], "xref": ["DOID:11752", "GARD:0021059", "ICD9:360.01", "MEDGEN:509652", "MedDRA:10000730", "Orphanet:279888", "SCTID:1493002", "UMLS:C0154773"]}
{"category": ["biolink:Disease"], "description": "Chronic form of endophthalmitis.", "id": "MONDO:0017203", "name": "Chronic endophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["endophthalmitis, chronic"], "xref": ["DOID:10697", "GARD:0021060", "ICD9:360.03", "MEDGEN:509653", "MedDRA:10008864", "Orphanet:279891", "SCTID:13978000", "UMLS:C0154774"]}
{"category": ["biolink:Disease"], "description": "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.", "id": "MONDO:0017204", "name": "Toxic maculopathy due to antimalarial drugs", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1636117", "Orphanet:279894", "SCTID:763621004", "UMLS:C4706522"]}
{"category": ["biolink:Disease"], "description": "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.", "id": "MONDO:0017205", "name": "Primary oculocerebral lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["primary oculocerebral non-Hodgkin lymphoma"], "xref": ["GARD:0021062", "MEDGEN:1814439", "Orphanet:279897", "UMLS:C5679779", "icd11.foundation:446504143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017207", "name": "Primary organ-specific lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021064", "MEDGEN:1826175", "NCIT:C7185", "Orphanet:279911", "UMLS:C5680788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017209", "name": "Infectious posterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021066", "MEDGEN:1701702", "Orphanet:279919", "UMLS:C5230265", "icd11.foundation:1722408748"]}
{"category": ["biolink:Disease"], "description": "An infectious disease involving a pathogenic inflammatory response in the anterior uvea.", "id": "MONDO:0017210", "name": "Infectious anterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["secondary iridocyclitis, infectious"], "xref": ["DOID:9389", "GARD:0021067", "ICD9:364.03", "MEDGEN:509716", "Orphanet:279922", "SCTID:193487008", "UMLS:C0154911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017211", "name": "Infectious panuveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021068", "MEDGEN:1684863", "Orphanet:279925", "UMLS:C5230354", "icd11.foundation:1709165622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017212", "name": "Paraneoplastic uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021069", "MEDGEN:1830109", "Orphanet:279928", "UMLS:C5680786"]}
{"category": ["biolink:Disease"], "description": "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.", "id": "MONDO:0017213", "name": "Postorgasmic illness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["POIS"], "xref": ["GARD:0010809", "MEDGEN:1663577", "Orphanet:279947", "UMLS:C4749582", "icd11.foundation:1094271130"]}
{"category": ["biolink:Disease"], "description": "An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).", "id": "MONDO:0017214", "name": "Vitamin b12-responsive methylmalonic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenosylcobalamin deficiency", "vitamin B12-responsive methylmalonic aciduria"], "xref": ["GARD:0012623", "MEDGEN:575193", "Orphanet:28", "SCTID:69614003", "UMLS:C0342720"]}
{"category": ["biolink:Disease"], "description": "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.", "id": "MONDO:0017215", "name": "Calciphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:4734", "GARD:0005980", "ICD9:275.49", "MEDGEN:2404", "MESH:D002115", "MedDRA:10051714", "NCIT:C84607", "Orphanet:280062", "SCTID:237900002", "UMLS:C0006666", "icd11.foundation:574291789"]}
{"category": ["biolink:Disease"], "description": "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.", "id": "MONDO:0017216", "name": "Calciphylaxis cutis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021070", "MEDGEN:900547", "Orphanet:280065", "SCTID:717043006", "UMLS:C4274083"]}
{"category": ["biolink:Disease"], "description": "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.", "id": "MONDO:0017217", "name": "Visceral calciphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021071", "MEDGEN:1664968", "Orphanet:280068", "UMLS:C4749793"]}
{"category": ["biolink:Disease"], "description": "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.", "id": "MONDO:0017219", "name": "Microform holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPE, minor form", "HPE-L", "HoloprosencC)phalie, minor form", "Holoprosencéphalie, minor form", "Microform HPE", "holoprosencephaly-like"], "xref": ["DOID:0111380", "GARD:0017290", "MEDGEN:1711978", "Orphanet:280200", "UMLS:C5393309", "icd11.foundation:44293173"]}
{"category": ["biolink:Disease"], "description": "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.", "id": "MONDO:0017220", "name": "Laryngotracheoesophageal cleft type 0", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LTEC0", "laryngo-tracheo-esophageal cleft type 0"], "xref": ["GARD:0021072", "MEDGEN:1760178", "Orphanet:280205", "UMLS:C5438977"]}
{"category": ["biolink:Disease"], "description": "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.", "id": "MONDO:0017221", "name": "Pelizaeus-merzbacher disease, connatal form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Pelizaeus-Merzbacher disease type II", "connatal PMD", "severe PMD"], "xref": ["GARD:0017291", "MEDGEN:1842817", "Orphanet:280210", "UMLS:C5679776", "icd11.foundation:1118374715"]}
{"category": ["biolink:Disease"], "description": "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.", "id": "MONDO:0017222", "name": "Pelizaeus-merzbacher disease, classic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic PMD"], "xref": ["GARD:0021073", "MEDGEN:155959", "Orphanet:280219", "SCTID:87607002", "UMLS:C0751916", "icd11.foundation:1613420896"]}
{"category": ["biolink:Disease"], "description": "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.", "id": "MONDO:0017223", "name": "Pelizaeus-merzbacher disease, transitional form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["transitional PMD"], "xref": ["GARD:0021074", "MEDGEN:199764", "Orphanet:280224", "UMLS:C0751917", "icd11.foundation:1471805474"]}
{"category": ["biolink:Disease"], "description": "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).", "id": "MONDO:0017224", "name": "Pelizaeus-merzbacher disease in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021075", "MEDGEN:1753109", "Orphanet:280229", "UMLS:C5438815", "icd11.foundation:1751389523"]}
{"category": ["biolink:Disease"], "description": "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.", "id": "MONDO:0017225", "name": "Null syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PLP1 null syndrome", "Pelizaeus-Merzbacher disease, null syndrome"], "xref": ["GARD:0017292", "MEDGEN:1740046", "Orphanet:280234", "UMLS:C5439441", "icd11.foundation:1663254692"]}
{"category": ["biolink:Disease"], "description": "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).", "id": "MONDO:0017226", "name": "Pelizaeus-merzbacher-like disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PMLD"], "xref": ["GARD:0012300", "MEDGEN:894734", "NANDO:1200577", "NANDO:2201289", "Orphanet:280270", "SCTID:717042001", "UMLS:C4274084", "icd11.foundation:1101042369"]}
{"category": ["biolink:Disease"], "description": "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.", "id": "MONDO:0017227", "name": "Lymphoplasmacytic sclerosing pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AIP type 1", "IgG4-related pancreatitis", "autoimmune pancreatitis type 1", "lymphoplasmacytic sclerosing pancreatitis"], "xref": ["EFO:1000780", "GARD:0021076", "MEDGEN:927912", "Orphanet:280302", "PMID:25985088", "SCTID:722872000", "UMLS:C4302243"]}
{"category": ["biolink:Disease"], "description": "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.", "id": "MONDO:0017228", "name": "Duct-centric pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AIP type 2", "duct-centric pancreatitis"], "xref": ["GARD:0021077", "MEDGEN:1679984", "Orphanet:280315", "UMLS:C5197785"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.", "id": "MONDO:0017229", "name": "Distal monosomy 12p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["12p13.33 microdeletion syndrome", "Del(12)(p13.33)", "distal deletion 12p", "distal monosomy type 12p"], "xref": ["GARD:0021078", "MEDGEN:1648932", "Orphanet:280325", "UMLS:C4749581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017230", "name": "Autosomal semi-dominant severe lipodystrophic laminopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021080", "MEDGEN:1808090", "Orphanet:280365", "UMLS:C5680783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017231", "name": "Erythropoietic uroporphyria associated with myeloid malignancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010948", "MEDGEN:1679887", "Orphanet:280379", "UMLS:C5191004"]}
{"category": ["biolink:Disease"], "description": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.", "id": "MONDO:0017232", "name": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IDMDC"], "xref": ["GARD:0021083", "MEDGEN:1659846", "Orphanet:280384", "UMLS:C4749580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017233", "name": "Familial alzheimer-like prion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021084", "MEDGEN:929151", "Orphanet:280397", "SCTID:721219005", "UMLS:C4303482", "icd11.foundation:1297025427"]}
{"category": ["biolink:Disease"], "description": "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.", "id": "MONDO:0017235", "name": "Familial omphalocele syndrome with facial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021086", "MEDGEN:1655514", "Orphanet:280403", "UMLS:C4749579"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.", "id": "MONDO:0017236", "name": "Rapidly progressive glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RPGN"], "xref": ["DOID:4776", "GARD:0025091", "ICD9:580.4", "ICD9:582.4", "ICD9:583.4", "MEDGEN:113155", "MedDRA:10018378", "NANDO:1200714", "NANDO:1200723", "NCIT:C35264", "Orphanet:280569", "SCTID:236392004", "UMLS:C0221239"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017237", "name": "Hereditary sensorimotor neuropathy with hyperelastic skin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0011010", "MEDGEN:1678654", "Orphanet:280598", "UMLS:C5190690", "icd11.foundation:691133799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017238", "name": "Hemoglobinopathy toms river", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["transient neonatal cyanosis and anaemia due to Toms River Haemoglobin", "transient neonatal cyanosis and anemia due to Toms River Hemoglobin"], "xref": ["GARD:0017297", "MEDGEN:1683555", "Orphanet:280615", "UMLS:C5190689"]}
{"category": ["biolink:Disease"], "description": "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.", "id": "MONDO:0017239", "name": "Familial progressive hyper- and hypopigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FPHH"], "xref": ["GARD:0017298", "MEDGEN:1643385", "Orphanet:280628", "UMLS:C4706423", "icd11.foundation:1229773662"]}
{"category": ["biolink:Disease"], "description": "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.", "id": "MONDO:0017242", "name": "Cutaneous collagenous vasculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCV"], "xref": ["GARD:0012428", "MEDGEN:930992", "Orphanet:280779", "SCTID:718634003", "UMLS:C4305323", "icd11.foundation:878108553"]}
{"category": ["biolink:Disease"], "description": "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.", "id": "MONDO:0017243", "name": "Bullous diffuse cutaneous mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["bullous DCM"], "xref": ["GARD:0021088", "MEDGEN:1781582", "Orphanet:280785", "UMLS:C5546764", "icd11.foundation:227748867"]}
{"category": ["biolink:Disease"], "description": "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.", "id": "MONDO:0017244", "name": "Pseudoxanthomatous diffuse cutaneous mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Pseudoxanthomatous DCM", "infiltrative small vesicular DCM", "infiltrative small vesicular diffuse cutaneous mastocytosis"], "xref": ["GARD:0021089", "MEDGEN:1842453", "Orphanet:280794", "UMLS:C5679949"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017245", "name": "Intralobar congenital pulmonary sequestration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital intrapulmonary sequestration", "intralobar congenital bronchopulmonary sequestration"], "xref": ["GARD:0021090", "MEDGEN:1842539", "Orphanet:280802", "UMLS:C5679950"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017246", "name": "Extralobar congenital pulmonary sequestration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital extrapulmonary sequestration", "extralobar congenital bronchopulmonary sequestration"], "xref": ["GARD:0021091", "MEDGEN:1843113", "Orphanet:280811", "UMLS:C5679951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017247", "name": "Communicating congenital bronchopulmonary-foregut malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021092", "MEDGEN:539496", "Orphanet:280821", "UMLS:C0265790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017248", "name": "Congenital pulmonary airway malformation type 0", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CPAM type 0", "congenital cystic adenomatoid malformation of the lung type 0", "congenital cystic adenomatous malformation of the lung type 0"], "xref": ["GARD:0021093", "MEDGEN:1776488", "Orphanet:280827", "UMLS:C5437764", "icd11.foundation:1763273166"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017249", "name": "Congenital pulmonary airway malformation type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CCAM type 1", "CPAM type 1", "congenital cystic adenomatoid malformation of the lung type 1", "congenital cystic adenomatous malformation of the lung type 1", "congenital cystic disease of the lung type 1"], "xref": ["GARD:0021094", "MEDGEN:1760964", "Orphanet:280832", "UMLS:C5437763", "icd11.foundation:1455719613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017250", "name": "Congenital pulmonary airway malformation type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CCAM type 2", "CPAM type 2", "congenital cystic adenomatoid malformation of the lung type 2", "congenital cystic adenomatous malformation of the lung type 2", "congenital cystic disease of the lung type 2"], "xref": ["GARD:0021095", "MEDGEN:1738105", "Orphanet:280840", "UMLS:C5437761", "icd11.foundation:1921224131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017251", "name": "Congenital pulmonary airway malformation type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CCAM type 3", "CPAM type 3", "congenital cystic adenomatoid malformation of the lung type 3", "congenital cystic adenomatous malformation of the lung type 3", "congenital cystic disease of the lung type 3"], "xref": ["GARD:0021096", "MEDGEN:1741544", "Orphanet:280847", "UMLS:C5437762", "icd11.foundation:1342201768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017252", "name": "Congenital pulmonary airway malformation type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CPAM type 4", "congenital cystic adenomatoid malformation of the lung type 4", "congenital cystic adenomatous malformation of the lung type 4"], "xref": ["GARD:0021097", "MEDGEN:1777484", "Orphanet:280854", "UMLS:C5437760", "icd11.foundation:1737719514"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.", "id": "MONDO:0017255", "name": "Panuveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["diffuse uveitis", "panuveitis", "panuveitis (disease)", "total uveitis"], "xref": ["DOID:12030", "EFO:1001082", "GARD:0008577", "HP:0012121", "ICD10CM:H44.11", "ICD9:360.12", "MEDGEN:45303", "MESH:D015864", "MedDRA:10033687", "NCIT:C84989", "Orphanet:280898", "SCTID:75614007", "UMLS:C0030343", "icd11.foundation:1125547814"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017256", "name": "Idiopathic anterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027265", "MEDGEN:573079", "Orphanet:280914", "SCTID:231947004", "UMLS:C0339315"]}
{"category": ["biolink:Disease"], "description": "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.", "id": "MONDO:0017257", "name": "Idiopathic posterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021099", "MEDGEN:1657160", "Orphanet:280917", "UMLS:C4751435"]}
{"category": ["biolink:Disease"], "description": "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.", "id": "MONDO:0017258", "name": "Idiopathic panuveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021100", "MEDGEN:1633708", "Orphanet:280921", "SCTID:766933000", "UMLS:C4707884"]}
{"category": ["biolink:Disease"], "description": "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.", "id": "MONDO:0017264", "name": "Syndromic recessive x-linked ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["recessive X-linked ichthyosis with extracutaneous manifestations", "syndrome associated with recessive X-linked ichthyosis", "syndromic RXLI", "syndromic X-linked ichthyosis", "syndromic recessive X-linked ichthyosis"], "xref": ["GARD:0017302", "MEDGEN:904038", "Orphanet:281090", "SCTID:717041008", "UMLS:C4274085"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of inherited ichthyosis.", "id": "MONDO:0017265", "name": "Autosomal recessive congenital ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ARCI", "autosomal recessive inherited ichthyosis", "ichthyosis, congenital, autosomal recessive", "inherited ichthyosis, autosomal recessive"], "xref": ["DOID:0060655", "GARD:0021106", "MEDGEN:697564", "NANDO:1200615", "NANDO:2200991", "OMIMPS:242300", "Orphanet:281097", "UMLS:C1274215", "icd11.foundation:430849255"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017266", "name": "Keratinopathic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["KPI"], "xref": ["GARD:0021107", "MEDGEN:1393111", "NANDO:1200610", "NANDO:2200987", "Orphanet:281103", "SCTID:724837004", "UMLS:C4511307", "icd11.foundation:992865924"]}
{"category": ["biolink:Disease"], "description": "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.", "id": "MONDO:0017267", "name": "Self-healing collodion baby", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHCB", "SICI", "self-improving congenital ichthyosis"], "xref": ["GARD:0017303", "MEDGEN:383772", "MESH:C565473", "Orphanet:281122", "SCTID:718632004", "UMLS:C1855789", "icd11.foundation:34721911"]}
{"category": ["biolink:Disease"], "description": "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.", "id": "MONDO:0017268", "name": "Acral self-healing collodion baby", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acral SHCB"], "xref": ["GARD:0021108", "MEDGEN:930993", "Orphanet:281127", "SCTID:718633009", "UMLS:C4305324", "icd11.foundation:897773833"]}
{"category": ["biolink:Disease"], "description": "X-linked form of inherited ichthyosis syndromic form.", "id": "MONDO:0017269", "name": "X-linked ichthyosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["X-linked inherited ichthyosis syndromic form", "inherited ichthyosis syndromic form, X-linked"], "xref": ["GARD:0021109", "MedDRA:10048063", "Orphanet:281210"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0017275", "name": "Spastic paraplegia-facial-cutaneous lesions syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bahemuka-Brown syndrome"], "xref": ["GARD:0000806", "MEDGEN:419453", "MESH:C537797", "Orphanet:2819", "SCTID:763403007", "UMLS:C2931617"]}
{"category": ["biolink:Disease"], "description": "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.", "id": "MONDO:0017276", "name": "Frontotemporal dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["FTD"], "xref": ["DOID:9255", "GARD:0008436", "ICD10CM:G31.0", "MEDGEN:83266", "MESH:D057180", "MedDRA:10068968", "NANDO:1200548", "NCIT:C84719", "Orphanet:282", "UMLS:C0338451", "icd11.foundation:831337417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017277", "name": "Partial deletion of chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial deletion of chromosome type 12", "partial monosomy of chromosome 12"], "xref": ["MEDGEN:1826080", "Orphanet:282124", "UMLS:C5680422"]}
{"category": ["biolink:Disease"], "description": "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.", "id": "MONDO:0017278", "name": "Autoimmune polyendocrinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["APS", "Antiphospholipid Syndrome", "autoimmune polyendocrine syndrome", "autoimmune polyendocrinopathy", "autoimmune polyendocrinopathy syndrome", "autoimmune polyglandular failure", "autoimmune polyglandular syndrome", "autoimmune polyglandular syndrome(s)", "polyglandular autoimmune syndrome"], "xref": ["DOID:14040", "GARD:0021116", "ICD10CM:E31.0", "ICD9:258.8", "MEDGEN:39042", "NANDO:2100125", "NCIT:C129726", "NCIT:C84576", "NORD:790", "Orphanet:282196", "SCTID:41864002", "UMLS:C0085409", "icd11.foundation:548357900"]}
{"category": ["biolink:Disease"], "description": "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.", "id": "MONDO:0017279", "name": "Young-onset parkinson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["YOPD", "early-onset Parkinson disease"], "xref": ["DOID:0060894", "GARD:0016610", "MEDGEN:907947", "Orphanet:2828", "SCTID:715345007", "UMLS:C4275179"]}
{"category": ["biolink:Disease"], "description": "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.", "id": "MONDO:0017280", "name": "Demodicidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Demodex caused disease or disorder", "Demodex disease or disorder", "Demodex infectious disease", "Demodicosis", "demodectic mange", "red mange"], "xref": ["GARD:0001802", "MEDGEN:581217", "Orphanet:283", "UMLS:C0392666", "icd11.foundation:1473144548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017281", "name": "Renal caliceal diverticuli-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004655", "MEDGEN:1676118", "Orphanet:2838", "UMLS:C5190738"]}
{"category": ["biolink:Disease"], "description": "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.", "id": "MONDO:0017282", "name": "Alveolar echinococcosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Echinococcus multilocularis caused disease or disorder", "Echinococcus multilocularis disease or disorder", "Echinococcus multilocularis infection", "Echinococcus multilocularis infectious disease"], "xref": ["DOID:12148", "GARD:0000207", "ICD9:122.7", "MEDGEN:508867", "MESH:C536591", "MedDRA:10053042", "Orphanet:284", "SCTID:21009004", "UMLS:C0152069", "icd11.foundation:1407575161"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017283", "name": "Desanto-shinawi syndrome due to 10p11.21p12.31 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["10p12p11 microdeletion syndrome", "Del(10)(p11.21p12.31)", "deletion 10p11.21p12.31", "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion", "monosomy 10p11.21p12.31"], "xref": ["GARD:0017311", "MEDGEN:1681325", "Orphanet:284169", "UMLS:C5190804"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017284", "name": "Xp22.13p22.2 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication Xp22", "dup(X)(p22)", "dup(X)(p22.13p22.2)"], "xref": ["GARD:0021117", "MEDGEN:1684472", "Orphanet:284180", "UMLS:C5190686"]}
{"category": ["biolink:Disease"], "description": "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).", "id": "MONDO:0017285", "name": "Penoscrotal transposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital penoscrotal transposition", "penoscrotal transposition", "penoscrotal transposition (disease)"], "xref": ["GARD:0004273", "HP:0100600", "MEDGEN:357036", "MESH:C536650", "MedDRA:10067287", "NCIT:C99010", "Orphanet:2842", "SCTID:312005008", "UMLS:C1868854", "icd11.foundation:1417779551"]}
{"category": ["biolink:Disease"], "description": "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.", "id": "MONDO:0017286", "name": "Tempi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome"], "xref": ["GARD:0010962", "MEDGEN:886502", "NCIT:C121656", "Orphanet:284227", "SCTID:718614004", "UMLS:C3854394"]}
{"category": ["biolink:Disease"], "description": "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.", "id": "MONDO:0017287", "name": "Immunoglobulin g4-related sclerosing disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IgG4-RD", "IgG4-related disease", "IgG4-related sclerosing disease", "IgG4-related systemic disease", "immunoglobulin G4-related sclerosing disease"], "xref": ["DOID:0080356", "GARD:0012521", "MEDGEN:473761", "MedDRA:10071569", "NANDO:1200923", "NANDO:1200924", "NCIT:C95992", "Orphanet:284264", "Orphanet:596448", "UMLS:C3203653", "icd11.foundation:99883782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017289", "name": "Fetal lung interstitial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["FLIT", "flit", "immature interstitial mesenchymal tumor", "immature interstitial mesenchymal tumour"], "xref": ["GARD:0021118", "MEDGEN:1830091", "NCIT:C190105", "Orphanet:284362", "UMLS:C5679952"]}
{"category": ["biolink:Disease"], "description": "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017290", "name": "Familial intrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary intrahepatic cholestasis"], "xref": ["GARD:0021119", "ICD9:576.8", "Orphanet:284385", "SCTID:74162007"]}
{"category": ["biolink:Disease"], "description": "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.", "id": "MONDO:0017291", "name": "Reversible cerebral vasoconstriction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RCVS"], "xref": ["GARD:0012768", "ICD9:437.8", "MEDGEN:811291", "Orphanet:284388", "SCTID:700467001", "UMLS:C3544214", "icd11.foundation:1474881372"]}
{"category": ["biolink:Disease"], "description": "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.", "id": "MONDO:0017292", "name": "Well-differentiated fetal adenocarcinoma of the lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WDFA", "fetal adenocarcinoma", "fetal lung adenocarcinoma", "foetal adenocarcinoma", "foetal lung adenocarcinoma", "pulmonary adenocarcinoma of fetal type", "pulmonary adenocarcinoma of foetal type", "pulmonary endodermal tumor resembling fetal lung", "pulmonary endodermal tumour resembling foetal lung", "well-differentiated fetal lung adenocarcinoma", "well-differentiated foetal lung adenocarcinoma"], "xref": ["GARD:0021120", "ICDO:8333/3", "MEDGEN:843585", "NCIT:C45509", "Orphanet:284395", "UMLS:C3873372"]}
{"category": ["biolink:Disease"], "description": "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.", "id": "MONDO:0017294", "name": "Glycerol kinase deficiency, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025092", "Orphanet:284408"]}
{"category": ["biolink:Disease"], "description": "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.", "id": "MONDO:0017295", "name": "Glycerol kinase deficiency, juvenile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017316", "MEDGEN:1842281", "Orphanet:284411", "UMLS:C5681029"]}
{"category": ["biolink:Disease"], "description": "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.", "id": "MONDO:0017296", "name": "Glycerol kinase deficiency, adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017317", "MEDGEN:1842796", "Orphanet:284414", "UMLS:C5681013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017297", "name": "Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CLIPPERS", "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"], "xref": ["GARD:0010779", "MEDGEN:1433964", "Orphanet:284448", "UMLS:C3854437", "icd11.foundation:913443626"]}
{"category": ["biolink:Disease"], "description": "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.", "id": "MONDO:0017298", "name": "Acute zonal occult outer retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AZOOR"], "xref": ["GARD:0008640", "ICD9:362.10", "MEDGEN:196452", "MESH:C538223", "Orphanet:284454", "SCTID:312929003", "UMLS:C0730298", "icd11.foundation:2011657601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017299", "name": "Acute annular outer retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AAOR"], "xref": ["GARD:0021121", "MEDGEN:1684428", "Orphanet:284460", "UMLS:C5191002"]}
{"category": ["biolink:Disease"], "description": "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).", "id": "MONDO:0017300", "name": "Congenital pericardium anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018779", "ICD9:746.89", "MEDGEN:672640", "Orphanet:2846", "SCTID:93018000", "UMLS:C0685699", "icd11.foundation:1188459532"]}
{"category": ["biolink:Disease"], "description": "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.", "id": "MONDO:0017301", "name": "Pericardial and diaphragmatic defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018780", "MEDGEN:1373904", "Orphanet:2847", "UMLS:C4510305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017303", "name": "Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["qualitative or quantitative defects of tropomyosin"], "xref": ["GARD:0021123", "MEDGEN:1842978", "Orphanet:284790", "UMLS:C5681012"]}
{"category": ["biolink:Disease"], "description": "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.", "id": "MONDO:0017304", "name": "Ocular albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ocular albinism", "ocular albinism (disease)"], "xref": ["DOID:0050633", "GARD:0021124", "HP:0001107", "ICD10CM:E70.31", "ICD9:270.2", "MEDGEN:38147", "MESH:D016117", "MedDRA:10065276", "NORD:1516", "Orphanet:284804", "SCTID:26399002", "UMLS:C0078917", "icd11.foundation:1147926040"]}
{"category": ["biolink:Disease"], "description": "A oculocutaneous albinism that is part of a larger syndrome.", "id": "MONDO:0017305", "name": "Syndromic oculocutaneous albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["syndrome associated with oculocutaneous albinism", "syndromic oculocutaneous albinism"], "xref": ["GARD:0021125", "MEDGEN:1843078", "Orphanet:284811", "UMLS:C5681016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017306", "name": "Disorder of phenylalanine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021126", "ICD9:270.8", "MEDGEN:541325", "Orphanet:284814", "SCTID:12957008", "UMLS:C0268461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017307", "name": "Disorder of tyrosine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021127", "ICD9:270.2", "MEDGEN:541330", "Orphanet:284818", "SCTID:37200009", "UMLS:C0268482", "icd11.foundation:1842978338"]}
{"category": ["biolink:Disease"], "description": "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.", "id": "MONDO:0017309", "name": "Neonatal marfan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neonatal MFS"], "xref": ["GARD:0021128", "MEDGEN:864491", "Orphanet:284979", "SCTID:763839005", "UMLS:C4016054", "icd11.foundation:1102890898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017310", "name": "Marfan and marfan-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021129", "MEDGEN:1842966", "Orphanet:284993", "UMLS:C5681015"]}
{"category": ["biolink:Disease"], "description": "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.", "id": "MONDO:0017312", "name": "Perrault syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Perrault syndrome", "XX gonodal dysgenesis-deafness syndrome"], "xref": ["DOID:0050857", "GARD:0002542", "MEDGEN:151934", "NORD:2031", "OMIMPS:233400", "Orphanet:2855", "SCTID:93466004", "UMLS:C0685838", "icd11.foundation:256968598"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017313", "name": "Disorder of folate metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021131", "MEDGEN:1842423", "Orphanet:285657", "UMLS:C5681010", "icd11.foundation:2081529009"]}
{"category": ["biolink:Disease"], "description": "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.", "id": "MONDO:0017314", "name": "Ehlers-danlos syndrome, vascular type", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDS IV", "EDS type 4", "Ehlers-Danlos syndrome type 4", "Ehlers-Danlos syndrome type IV", "Ehlers-Danlos syndrome, type IV", "Ehlers-Danlos syndrome, vascular type", "sack-Barabas syndrome"], "xref": ["GARD:0002082", "MEDGEN:82790", "NANDO:1200648", "NANDO:2201258", "NCIT:C125699", "Orphanet:286", "SCTID:17025000", "UMLS:C0268338", "icd11.foundation:1202686415"]}
{"category": ["biolink:Disease"], "description": "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.", "id": "MONDO:0017315", "name": "Short stature-webbed neck-heart disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Al Gazali-Aziz-Salem syndrome"], "xref": ["GARD:0000583", "MEDGEN:419677", "MESH:C535613", "Orphanet:2865", "SCTID:721073008", "UMLS:C2930950"]}
{"category": ["biolink:Disease"], "description": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).", "id": "MONDO:0017316", "name": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thong-Douglas-Ferrante syndrome"], "xref": ["GARD:0004841", "MEDGEN:906653", "Orphanet:2866", "SCTID:716192009", "UMLS:C4274785"]}
{"category": ["biolink:Disease"], "description": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.", "id": "MONDO:0017317", "name": "Phakomatosis pigmentokeratotica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004311", "MEDGEN:419860", "MESH:C537893", "Orphanet:2874", "SCTID:723455009", "UMLS:C2931658", "icd11.foundation:960559196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017318", "name": "Phakomatosis pigmentovascularis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["phakomatosis pigmentovascularis", "port-wine stain with oculocutaneous melanosis"], "xref": ["GARD:0004312", "ICD9:709.09", "MEDGEN:220888", "MESH:C537894", "Orphanet:2875", "SCTID:403545005", "UMLS:C1274879", "icd11.foundation:1768130414"]}
{"category": ["biolink:Disease"], "description": "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.", "id": "MONDO:0017319", "name": "Hereditary elliptocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HE", "Hashimoto Encephalopathy", "congenital elliptocytosis", "hereditary ovalocytosis", "ovalocytosis"], "xref": ["DOID:2373", "GARD:0006621", "ICD10CM:D58.1", "MEDGEN:41747", "MESH:D004612", "MedDRA:10014490", "NANDO:2200630", "NCIT:C35882", "NORD:1935", "Orphanet:288", "SCTID:178935009", "UMLS:C0013902", "icd11.foundation:679955609"]}
{"category": ["biolink:Disease"], "description": "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.", "id": "MONDO:0017320", "name": "Phosphoenolpyruvate carboxykinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEPCK deficiency", "phosphoenolpyruvate carboxykinase (GTP) deficiency"], "xref": ["GARD:0016613", "ICD9:277.89", "MEDGEN:120618", "MESH:C536654", "NANDO:2200536", "NCIT:C99015", "Orphanet:2880", "SCTID:5335002", "UMLS:C0268194", "icd11.foundation:1350463176"]}
{"category": ["biolink:Disease"], "description": "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.", "id": "MONDO:0017321", "name": "Pili torti-onychodysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004364", "MEDGEN:1375227", "Orphanet:2890", "UMLS:C4509919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017322", "name": "Disorders of vitamin d metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021132", "MEDGEN:1842308", "Orphanet:289098", "UMLS:C5681017"]}
{"category": ["biolink:Disease"], "description": "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).", "id": "MONDO:0017323", "name": "Hypocalcemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Calciopenic rickets", "calcium deficiency rickets"], "xref": ["GARD:0021133", "MEDGEN:927864", "NCIT:C131421", "Orphanet:289103", "SCTID:722947004", "UMLS:C4302195"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.", "id": "MONDO:0017324", "name": "Autosomal recessive hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARHR", "autosomal recessive hereditary hypophosphatemic rickets", "hereditary hypophosphatemic rickets, autosomal recessive", "hypophosphatemic rickets, autosomal recessive"], "xref": ["DOID:0050949", "GARD:0017320", "MEDGEN:137975", "Orphanet:289176", "SCTID:90505000", "UMLS:C0342643"]}
{"category": ["biolink:Disease"], "description": "A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.", "id": "MONDO:0017325", "name": "Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation", "epilepsy, focal, with speech disorder and with or without impaired intellectual development"], "xref": ["GARD:0021134", "MEDGEN:1663334", "OMIM:245570", "OMIM:613971", "Orphanet:289266", "UMLS:C4749281", "icd11.foundation:1655554340"]}
{"category": ["biolink:Disease"], "description": "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.", "id": "MONDO:0017326", "name": "Infective dermatitis associated with htlv-1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IDH", "IDH Gene family", "infective dermatitis associated with human T-lymphotropic virus type 1", "infective dermatitis associated with human T-lymphotropic virus type I", "isocitrate dehydrogenase Gene family"], "xref": ["GARD:0021135", "MEDGEN:895843", "NCIT:C129260", "Orphanet:289347", "UMLS:C4274291"]}
{"category": ["biolink:Disease"], "description": "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.", "id": "MONDO:0017327", "name": "Primary non-gestational choriocarcinoma of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NGCO", "primary non-gestational ovarian choriocarcinoma"], "xref": ["GARD:0021136", "MEDGEN:906353", "Orphanet:289356", "SCTID:716588005", "UMLS:C4274424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017328", "name": "Non-central nervous system-localized embryonal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["non-CNS-localized embryonal carcinoma"], "xref": ["GARD:0021137", "MEDGEN:1842755", "Orphanet:289362", "UMLS:C5679946"]}
{"category": ["biolink:Disease"], "description": "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.", "id": "MONDO:0017329", "name": "Familial vesicoureteral reflux", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial VUR", "hereditary vesicoureteral reflux (disease)"], "xref": ["GARD:0017323", "MEDGEN:1637583", "OMIMPS:193000", "Orphanet:289365", "SCTID:763716008", "UMLS:C4706552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017330", "name": "Malignancy diagnosed during pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cancer diagnosed during pregnancy"], "xref": ["GARD:0021138", "MEDGEN:1830090", "Orphanet:289385", "UMLS:C5679948"]}
{"category": ["biolink:Disease"], "description": "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.", "id": "MONDO:0017331", "name": "Pilotto syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "xref": ["MEDGEN:419091", "MESH:C537400", "Orphanet:2894", "UMLS:C2931484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017332", "name": "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pash syndrome"], "xref": ["GARD:0021139", "MEDGEN:1681766", "Orphanet:289478", "UMLS:C5191642"]}
{"category": ["biolink:Disease"], "description": "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.", "id": "MONDO:0017334", "name": "12q15q21.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Del(12)(q15)(q21.1)", "deletion 12q15q21.1", "monosomy 12q15q21.1"], "xref": ["GARD:0021141", "MEDGEN:1383455", "Orphanet:289513", "SCTID:734030009", "UMLS:C4518344"]}
{"category": ["biolink:Disease"], "description": "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.", "id": "MONDO:0017335", "name": "Microtriplication 11q24.1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["tetrasomy 11q24.1"], "xref": ["GARD:0021142", "MEDGEN:1656562", "Orphanet:289522", "UMLS:C4749373"]}
{"category": ["biolink:Disease"], "description": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.", "id": "MONDO:0017337", "name": "Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021143", "MEDGEN:1643960", "Orphanet:289548", "SCTID:764960005", "UMLS:C4707238"]}
{"category": ["biolink:Disease"], "description": "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.", "id": "MONDO:0017338", "name": "Fatal multiple mitochondrial dysfunctions syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["multiple mitochondrial dysfunctions syndrome"], "xref": ["DOID:0070330", "GARD:0012632", "MEDGEN:502474", "MESH:C565304", "OMIMPS:605711", "Orphanet:289573", "SCTID:720827002", "UMLS:C3502075"]}
{"category": ["biolink:Disease"], "description": "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.", "id": "MONDO:0017339", "name": "Exfoliative ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive exfoliative ichthyosis", "exfoliative ichthyosis", "ichthyosis exfoliativa"], "xref": ["GARD:0017329", "MEDGEN:325027", "Orphanet:289586", "UMLS:C1838440"]}
{"category": ["biolink:Disease"], "description": "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.", "id": "MONDO:0017340", "name": "Juvenile nasopharyngeal angiofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["JNA", "juvenile nasopharyngeal angiofibroma", "juvenile nasopharyngeal angiofibroma (disease)", "nasopharyngeal angiofibroma", "nasopharyngeal juvenile angiofibroma"], "xref": ["GARD:0021144", "HP:0030429", "MEDGEN:237137", "NCIT:C27479", "Orphanet:289596", "SCTID:716590006", "UMLS:C1367536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017341", "name": "Virus associated tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["MEDGEN:1842723", "Orphanet:289635", "UMLS:C5681008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017342", "name": "Epstein-barr virus-related tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["EBV-related tumor", "EBV-related tumour"], "xref": ["GARD:0021146", "MEDGEN:1842315", "Orphanet:289638", "UMLS:C5679942"]}
{"category": ["biolink:Disease"], "description": "A range of lymphoproliferative diseases characterized by uncontrolled proliferation of B cells, T cells, or NK cells infected with Epstein-Barr virus. Depending on host immunity and viral factors, viral persistence in host cells can induce lymphoproliferation with a diverse clinical spectrum ranging from simple reactive hyperplasia to aggressive lymphoma/leukemia with unique clinical and pathological presentations.", "id": "MONDO:0017343", "name": "Epstein-barr virus-associated lymphoproliferative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["EBV-associated lymphoproliferative disorder"], "xref": ["GARD:0021147", "MEDGEN:797800", "MedDRA:10068349", "Orphanet:289644", "UMLS:C2363744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017344", "name": "Epstein-barr virus-associated carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["EBV-associated carcinoma"], "xref": ["GARD:0021148", "MEDGEN:1842328", "NCIT:C27690", "Orphanet:289651", "UMLS:C5679940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017345", "name": "Epstein-barr virus-associated mesenchymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["EBV-associated mesenchymal tumor", "EBV-associated mesenchymal tumour"], "xref": ["GARD:0021149", "MEDGEN:1843096", "Orphanet:289656", "UMLS:C5679941"]}
{"category": ["biolink:Disease"], "description": "A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.", "id": "MONDO:0017346", "name": "Epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBV Positive diffuse large B-cell lymphoma of the elderly", "EBV-Positive diffuse large B-cell lymphoma, NOS", "EBV-positive DLBCL of the elderly", "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly", "Senile EBV-associated B-cell lymphoproliferative disorder", "age-related EBV Positive B-cell lymphoproliferative disorder"], "xref": ["GARD:0021150", "ICDO:9680/3", "MEDGEN:397690", "NCIT:C80281", "Orphanet:289661", "SCTID:716788007", "UMLS:C2700007", "icd11.foundation:407807101"]}
{"category": ["biolink:Disease"], "description": "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.", "id": "MONDO:0017347", "name": "Plasmablastic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PBL", "Plasmablastic lymphoma"], "xref": ["DOID:0080779", "GARD:0012125", "ICDO:9684/3", "ICDO:9735/3", "MEDGEN:483338", "MESH:D000069293", "MedDRA:10065039", "NCIT:C7224", "ONCOTREE:PLBL", "Orphanet:289666", "SCTID:724648008", "UMLS:C3472614", "icd11.foundation:803046659"]}
{"category": ["biolink:Disease"], "description": "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.", "id": "MONDO:0017348", "name": "Lymphoepithelial-like carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021151", "Orphanet:289682"]}
{"category": ["biolink:Disease"], "description": "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.", "id": "MONDO:0017349", "name": "Myopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["solitary myofibroma"], "xref": ["GARD:0021152", "ICDO:8713/1", "MEDGEN:224912", "MESH:D000077777", "NCIT:C50401", "ONCOTREE:MPC", "Orphanet:289685", "UMLS:C1302808"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.", "id": "MONDO:0017350", "name": "Inborn disorder of tryptophan metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of tryptophan metabolic process", "inborn tryptophan metabolic process disorder", "rare inborn error of tryptophan metabolic process"], "xref": ["GARD:0021154", "ICD9:270.2", "MEDGEN:22506", "Orphanet:289829", "SCTID:5181007", "UMLS:C0041254", "icd11.foundation:282654317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017351", "name": "Inborn disorder of lysine and hydroxylysine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021155", "ICD10CM:E72.3", "ICD9:270.7", "ICD9:270.8", "MEDGEN:541359", "Orphanet:289832", "SCTID:237929000", "UMLS:C0268552", "icd11.foundation:367868681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017352", "name": "Disorder of glutamine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021156", "ICD9:270.7", "MEDGEN:575171", "Orphanet:289841", "SCTID:190724004", "UMLS:C0342669"]}
{"category": ["biolink:Disease"], "description": "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.", "id": "MONDO:0017353", "name": "Neonatal glycine encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic glycine encephalopathy", "neonatal NKH", "neonatal non-ketotic hyperglycinemia"], "xref": ["GARD:0017332", "MEDGEN:1785446", "NANDO:1200985", "Orphanet:289857", "UMLS:C5548200", "icd11.foundation:414151121"]}
{"category": ["biolink:Disease"], "description": "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.", "id": "MONDO:0017354", "name": "Infantile glycine encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["glycine encephalopathy of infancy", "infantile NKH", "infantile non-ketotic hyperglycinemia", "infantile onset glycine encephalopathy"], "xref": ["GARD:0017333", "MEDGEN:1781124", "NANDO:1200986", "Orphanet:289860", "UMLS:C5548209", "icd11.foundation:563302182"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.", "id": "MONDO:0017355", "name": "Inborn disorder of proline metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of proline metabolism", "inborn error of proline metabolic process", "inborn proline metabolic process disorder", "rare inborn error of proline metabolic process"], "xref": ["GARD:0021157", "MEDGEN:1842611", "Orphanet:289866", "UMLS:C5681004", "icd11.foundation:1707028291"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.", "id": "MONDO:0017356", "name": "Inborn disorder of ornithine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of ornithine metabolism", "inborn error of ornithine metabolic process", "inborn ornithine metabolic process disorder", "rare inborn error of ornithine metabolic process"], "xref": ["GARD:0021158", "MEDGEN:575181", "Orphanet:289869", "SCTID:237928008", "UMLS:C0342690", "icd11.foundation:1711515805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017357", "name": "Transient hyperammonemia of the newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021159", "MEDGEN:541358", "Orphanet:289877", "UMLS:C0268549"]}
{"category": ["biolink:Disease"], "description": "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.", "id": "MONDO:0017359", "name": "3-methylglutaconic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060336", "GARD:0012966", "ICD10CM:E71.111", "MEDGEN:777186", "MESH:C579867", "NANDO:1200989", "NANDO:2200496", "NCIT:C98678", "OMIMPS:250950", "Orphanet:289902", "SCTID:237950009", "UMLS:C3696376", "icd11.foundation:1008261602"]}
{"category": ["biolink:Disease"], "description": "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.", "id": "MONDO:0017360", "name": "Vitamin b12-unresponsive methylmalonic acidemia type mut0", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["complete deficiency of methylmalonyl-CoA mutase", "vitamin B12-unresponsive methylmalonic aciduria type mut0"], "xref": ["GARD:0017335", "MEDGEN:575191", "Orphanet:289916", "SCTID:237945003", "UMLS:C0342718"]}
{"category": ["biolink:Disease"], "description": "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.", "id": "MONDO:0017361", "name": "Congenital rubella syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRS", "Rubella, Congenital", "congenital rubella", "congenital rubella syndrome", "fetal rubella syndrome", "foetal rubella syndrome", "mother-to-child transmission of rubella syndrome", "rubella congenital"], "xref": ["EFO:0007218", "GARD:0004744", "ICD10CM:P35.0", "ICD9:771.0", "MEDGEN:19841", "MESH:D012410", "MedDRA:10010618", "NANDO:2200890", "NCIT:C34992", "NORD:1681", "Orphanet:290", "SCTID:1857005", "UMLS:C0035921", "icd11.foundation:1059053724"]}
{"category": ["biolink:Disease"], "description": "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.", "id": "MONDO:0017362", "name": "Neuralgic amyotrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Parsonage Turner Syndrome", "acute brachial plexus neuritis", "immune brachial plexus neuropathy", "mononeuritis multiplex with brachial predilection", "neuralgic shoulder amyotrophy"], "xref": ["GARD:0004228", "ICD10CM:G54.5", "MEDGEN:307145", "MedDRA:10063020", "NORD:1560", "Orphanet:2901", "UMLS:C1510479", "icd11.foundation:302246011"]}
{"category": ["biolink:Disease"], "description": "A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).", "id": "MONDO:0017363", "name": "Idiopathic chronic eosinophilic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001130", "MEDGEN:443938", "MESH:C535590", "NORD:967", "Orphanet:2902", "UMLS:C2930941", "icd11.foundation:958353326"]}
{"category": ["biolink:Disease"], "description": "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.", "id": "MONDO:0017364", "name": "Poems syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Crow-Fukase syndrome", "PEP syndrome", "POEMS syndrome", "Takatsuki syndrome", "osteosclerotic myeloma", "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome"], "xref": ["DOID:14039", "EFO:1001115", "GARD:0007411", "MEDGEN:39276", "MESH:D016878", "MedDRA:10053869", "NANDO:1200033", "NCIT:C80303", "NORD:1586", "Orphanet:2905", "SCTID:79268002", "UMLS:C0085404", "icd11.foundation:1555299114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017365", "name": "Hereditary acrokeratotic poikiloderma, weary type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital poikiloderma with bullae, Weary type"], "xref": ["GARD:0018781", "MEDGEN:96059", "Orphanet:2907", "UMLS:C0406556", "icd11.foundation:837824031"]}
{"category": ["biolink:Disease"], "description": "Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).", "id": "MONDO:0017366", "name": "Hereditary pheochromocytoma-paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["familial pheochromocytoma-paraganglioma", "hereditary paraganglioma-pheochromocytoma syndrome", "hereditary pheochromocytoma-paraganglioma"], "xref": ["GARD:0011984", "MEDGEN:895844", "OMIMPS:168000", "Orphanet:29072", "UMLS:C4274332"]}
{"category": ["biolink:Disease"], "description": "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.", "id": "MONDO:0017372", "name": "Congenital varicella syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["antenatal varicella virus infection", "mother-to-child transmission of varicella syndrome"], "xref": ["GARD:0000045", "ICD9:771.2", "MEDGEN:87473", "NCIT:C116800", "NORD:1003", "Orphanet:291", "SCTID:277644009", "UMLS:C0343560", "icd11.foundation:2071159826"]}
{"category": ["biolink:Disease"], "description": "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.", "id": "MONDO:0017373", "name": "Poliomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Polia", "acute poliomyelitis", "polio", "poliomyelitis"], "xref": ["DOID:4953", "EFO:0007450", "GARD:0007413", "ICD9:045", "ICD9:045.9", "ICD9:045.90", "ICD9:045.92", "MEDGEN:18545", "MESH:D011051", "MedDRA:10036012", "NCIT:C35550", "Orphanet:2912", "SCTID:398102009", "UMLS:C0032371", "icd11.foundation:588527933"]}
{"category": ["biolink:Disease"], "description": "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.", "id": "MONDO:0017375", "name": "Congenital enterovirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["antenatal enterovirus infection", "congenital enterovirus infection", "congenital enterovirus infectious disease", "congenital infection caused by enterovirus", "mother-to-child transmission of enterovirus infection"], "xref": ["GARD:0002130", "MEDGEN:904399", "Orphanet:292", "SCTID:716865000", "UMLS:C4274223", "icd11.foundation:1981771784"]}
{"category": ["biolink:Disease"], "description": "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.", "id": "MONDO:0017376", "name": "Reactive arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fiessinger-Leroy disease", "Fiessinger-Leroy-Reiter syndrome", "Reiter syndrome", "Reiter's disease", "Reiter's syndrome", "arthritis urethritica", "polyarthritis enterica", "reactive arthritis", "venereal arthritis"], "xref": ["DOID:6196", "EFO:0007460", "GARD:0005693", "ICD9:099.3", "ICD9:711.3", "ICD9:711.30", "ICD9:711.40", "MEDGEN:39047", "MESH:D016918", "MedDRA:10003267", "MedDRA:10038294", "NCIT:C128332", "NORD:1650", "Orphanet:29207", "SCTID:129133005", "UMLS:C0085435"]}
{"category": ["biolink:Disease"], "description": "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.", "id": "MONDO:0017377", "name": "Preaxial polydactyly-colobomata-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer-Mayer syndrome"], "xref": ["GARD:0004304", "MEDGEN:444110", "MESH:C537888", "Orphanet:2921", "SCTID:733088002", "UMLS:C2931655"]}
{"category": ["biolink:Disease"], "description": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.", "id": "MONDO:0017379", "name": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lundberg syndrome"], "xref": ["GARD:0004424", "MEDGEN:1665486", "Orphanet:2928", "UMLS:C4749397"]}
{"category": ["biolink:Disease"], "description": "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.", "id": "MONDO:0017380", "name": "Juvenile polyposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["JIP", "JPS", "jPS", "juvenile gastrointestinal polyposis", "juvenile intestinal polyposis", "juvenile multiple polyps syndrome", "juvenile polyposis", "juvenile polyposis syndrome", "polyposis, juvenile intestinal"], "xref": ["GARD:0003065", "MEDGEN:87518", "NANDO:2200916", "NCIT:C7754", "NORD:280170", "OMIM:174900", "Orphanet:2929", "SCTID:9273005", "UMLS:C0345893", "icd11.foundation:1020795563"]}
{"category": ["biolink:Disease"], "description": "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.", "id": "MONDO:0017381", "name": "Congenital herpes simplex virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Simplexvirus caused infectious embryofetopathy", "Simplexvirus infectious embryofetopathy", "antenatal herpes simplex virus infection", "congenital herpes simplex", "mother-to-child transmission of herpes simplex virus infection"], "xref": ["GARD:0018687", "ICD9:771.2", "MEDGEN:82910", "NANDO:2200889", "Orphanet:293", "SCTID:91576008", "UMLS:C0276225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017382", "name": "Familial clubfoot due to 5q31 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["hereditary clubfoot due to 5q31 microdeletion"], "xref": ["GARD:0017336", "MEDGEN:1826065", "Orphanet:293144", "UMLS:C5679944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017383", "name": "Familial clubfoot due to pitx1 point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["hereditary clubfoot due to PITX1 point mutation"], "xref": ["GARD:0017337", "MEDGEN:1814442", "Orphanet:293150", "UMLS:C5679943"]}
{"category": ["biolink:Disease"], "description": "A widespread acute rash characterized by fever and multiple small pustules on a reddish background.", "id": "MONDO:0017384", "name": "Acute generalized exanthematous pustulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AGEP", "pustular drug eruption", "toxic pustuloderma"], "xref": ["GARD:0021164", "ICD9:709.8", "MEDGEN:209091", "MESH:D056150", "MedDRA:10048799", "NCIT:C112122", "Orphanet:293173", "SCTID:702617007", "UMLS:C0877055"]}
{"category": ["biolink:Disease"], "description": "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.", "id": "MONDO:0017385", "name": "Malignant migrating partial seizures of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EIMFS", "MMPEI", "MMPSI", "MPEI", "epilepsy of infancy with migrating focal seizures", "malignant migrating Partial seizures in infancy", "malignant migrating partial epilepsy of infancy", "migrating Partial seizures in infancy", "migrating partial epilepsy of infancy", "migrating partial seizures of infancy"], "xref": ["GARD:0012919", "NANDO:1200595", "NCIT:C125387", "Orphanet:293181", "SCTID:733195008", "SCTID:784345005", "icd11.foundation:1727727812"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.", "id": "MONDO:0017386", "name": "Pleomorphic rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["pleomorphic rhabdomyosarcoma"], "xref": ["DOID:3250", "GARD:0021165", "ICD9:171.9", "MEDGEN:137770", "NCIT:C4258", "ONCOTREE:PLRMS", "Orphanet:293199", "SCTID:404054005", "UMLS:C0334480"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).", "id": "MONDO:0017387", "name": "Epithelioid sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ES", "epithelioid cell sarcoma", "epithelioid sarcoma"], "xref": ["DOID:6193", "GARD:0010181", "ICDO:8804/3", "MEDGEN:104753", "MedDRA:10015099", "NCIT:C3714", "ONCOTREE:EPIS", "Orphanet:293202", "UMLS:C0205944"]}
{"category": ["biolink:Disease"], "description": "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.", "id": "MONDO:0017388", "name": "Celiac trunk compression syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dunbar syndrome", "Median Arcuate Ligament Syndrome", "celiac artery compression syndrome", "celiac artery stenosis from compression by median arcuate ligament of diaphragm", "coeliac artery compression syndrome", "median arcuate ligament syndrome", "median arcuate ligament syndromic disease", "syndromic disease of median arcuate ligament"], "xref": ["DOID:9892", "GARD:0012308", "ICD10CM:I77.4", "ICD9:447.4", "MESH:C566151", "NORD:1957", "OMIM:116870", "Orphanet:293208", "SCTID:9250002", "icd11.foundation:1666443751"]}
{"category": ["biolink:Disease"], "description": "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.", "id": "MONDO:0017389", "name": "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BH4-responsive HPA/PKU", "BH4-responsive hyperphenylalaninemia/phenylketonuria", "tetrahydrobiopterin-responsive HPA/PKU"], "xref": ["GARD:0021166", "MEDGEN:1842546", "NANDO:1200787", "NANDO:2201077", "Orphanet:293284", "UMLS:C5679945"]}
{"category": ["biolink:Disease"], "description": "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.", "id": "MONDO:0017391", "name": "Grayson-wilbrandt corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GWCD"], "xref": ["GARD:0021167", "MEDGEN:931248", "Orphanet:293375", "SCTID:717286002", "UMLS:C4305579", "icd11.foundation:1667542240"]}
{"category": ["biolink:Disease"], "description": "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.", "id": "MONDO:0017392", "name": "Pre-descemet corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PDCD"], "xref": ["GARD:0021168", "ICD9:371.56", "MEDGEN:573065", "Orphanet:293462", "SCTID:231934009", "UMLS:C0339282", "icd11.foundation:2027634766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017393", "name": "Blepharophimosis - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["BMRS"], "xref": ["GARD:0010892", "MEDGEN:1698793", "Orphanet:293642", "UMLS:C5229849"]}
{"category": ["biolink:Disease"], "description": "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.", "id": "MONDO:0017394", "name": "Ketamine-induced biliary dilatation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1380193", "Orphanet:293807", "SCTID:726613003", "UMLS:C4512018"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017395", "name": "Fixed pigmented erythema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fixed drug eruption"], "xref": ["GARD:0021170", "MEDGEN:526203", "MedDRA:10048796", "Orphanet:293812", "SCTID:73692007", "UMLS:C0221242", "icd11.foundation:20014644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017396", "name": "Toxic dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021171", "MEDGEN:1842825", "Orphanet:293815", "UMLS:C5680999"]}
{"category": ["biolink:Disease"], "description": "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.", "id": "MONDO:0017398", "name": "3mc syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Malpuech-Michels-Mingarelli-Carnevale syndrome", "craniofacial-ulnar-renal syndrome"], "xref": ["DOID:0060225", "GARD:0001118", "MEDGEN:929529", "NANDO:2200792", "OMIMPS:257920", "Orphanet:293843", "SCTID:720756005", "UMLS:C4303860", "icd11.foundation:1294329406"]}
{"category": ["biolink:Disease"], "description": "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.", "id": "MONDO:0017399", "name": "Frontotemporal dementia, right temporal atrophy variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RTLA", "rvFTD"], "xref": ["GARD:0025093", "Orphanet:293848", "SCTID:716667005"]}
{"category": ["biolink:Disease"], "description": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.", "id": "MONDO:0017400", "name": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mitchell-Riley syndrome", "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"], "xref": ["GARD:0005237", "MEDGEN:411637", "OMIM:615710", "Orphanet:293864", "UMLS:C2748662"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017401", "name": "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form"], "xref": ["DOID:0070534", "GARD:0017345", "MEDGEN:1863454", "Orphanet:293888", "UMLS:C5925017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017402", "name": "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form"], "xref": ["DOID:0070535", "GARD:0017346", "MEDGEN:1864265", "Orphanet:293899", "UMLS:C5925016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017403", "name": "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial isolated arrhythmogenic ventricular cardiomyopathy, classic form", "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form", "familial isolated arrhythmogenic ventricular dysplasia, classic form"], "xref": ["GARD:0017347", "MEDGEN:1864032", "Orphanet:293910", "UMLS:C5925015"]}
{"category": ["biolink:Disease"], "description": "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.", "id": "MONDO:0017404", "name": "Distal xq28 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Xq28 Microduplication", "distal dup(X)q(28)", "distal trisomy Xq28"], "xref": ["DECIPHER:88", "GARD:0017350", "MEDGEN:1655645", "Orphanet:293939", "UMLS:C4751127"]}
{"category": ["biolink:Disease"], "description": "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.", "id": "MONDO:0017405", "name": "1p21.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(1)p(21.3)", "monosomy 1p21.3"], "xref": ["GARD:0021173", "MEDGEN:930247", "Orphanet:293948", "SCTID:719600006", "UMLS:C4304578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017406", "name": "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome"], "xref": ["GARD:0021174", "MEDGEN:1663043", "Orphanet:293967", "UMLS:C4751123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017407", "name": "David syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["David syndrome"], "xref": ["GARD:0017353", "MEDGEN:1666981", "Orphanet:293978", "UMLS:C4751122"]}
{"category": ["biolink:Disease"], "description": "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.", "id": "MONDO:0017408", "name": "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ROHHAD", "ROHHAD syndrome", "ROHHADNET", "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation", "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome", "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome", "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation", "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome"], "xref": ["GARD:0010407", "MEDGEN:1670711", "NCIT:C121944", "NORD:1648", "Orphanet:293987", "UMLS:C4751121"]}
{"category": ["biolink:Disease"], "description": "An infection with the Cytomegalovirus that is present from birth.", "id": "MONDO:0017409", "name": "Fetal cytomegalovirus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["antenatal CMV infection", "antenatal cytomegalovirus infection", "congenital Cytomegaloviral infection", "mother-to-child transmission of cytomegalovirus syndrome"], "xref": ["GARD:0001480", "MEDGEN:578789", "NANDO:2200891", "NCIT:C122427", "Orphanet:294", "SCTID:276701009", "UMLS:C0349499", "icd11.foundation:1515465998"]}
{"category": ["biolink:Disease"], "description": "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.", "id": "MONDO:0017410", "name": "Porencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060263", "GARD:0007430", "HP:0002132", "MEDGEN:901502", "MESH:D065708", "MedDRA:10036172", "NANDO:1201074", "Orphanet:2940", "UMLS:C4082173", "icd11.foundation:137059367"]}
{"category": ["biolink:Disease"], "description": "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.", "id": "MONDO:0017411", "name": "Neonatal inflammatory skin and bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["inflammatory skin and bowel disease, neonatal"], "xref": ["GARD:0017355", "MEDGEN:1648296", "OMIMPS:614328", "Orphanet:294023", "UMLS:C4751120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017413", "name": "Reunion island larsen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RLS", "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome"], "xref": ["GARD:0025094", "Orphanet:294049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017415", "name": "Multiple pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Pterygium Syndrome, Multiple"], "xref": ["DOID:0080110", "GARD:0021177", "ICD9:755.8", "MEDGEN:1852087", "MESH:C537377", "NORD:1632", "Orphanet:294060", "SCTID:205819008", "UMLS:C5848053", "icd11.foundation:834369371"]}
{"category": ["biolink:Disease"], "description": "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.", "id": "MONDO:0017416", "name": "Postpoliomyelitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Post Polio Syndrome", "postpolio sequelae", "postpolio syndrome", "postpoliomyelitic syndrome", "postpoliomyelitis sequelae", "postpoliomyelitis syndrome"], "xref": ["DOID:4952", "EFO:0007454", "GARD:0004454", "ICD10CM:G14", "MEDGEN:36363", "MESH:D016262", "NORD:1600", "Orphanet:2942", "SCTID:31097004", "UMLS:C0080040", "icd11.foundation:2018885243"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.", "id": "MONDO:0017417", "name": "Renal-hepatic-pancreatic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ivemark II syndrome", "Renohepaticopancreatic dysplasia"], "xref": ["DOID:0060259", "GARD:0017356", "MEDGEN:382215", "OMIMPS:208540", "Orphanet:294415", "SCTID:763891005", "UMLS:C2673883"]}
{"category": ["biolink:Disease"], "description": "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).", "id": "MONDO:0017418", "name": "Chronic intestinal failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CIF"], "xref": ["GARD:0021178", "MEDGEN:909276", "Orphanet:294422", "SCTID:716665002", "UMLS:C4274352"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation characterized by the complete absence of all limbs.", "id": "MONDO:0017419", "name": "Non-syndromic amelia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["nonsyndromic amelia"], "xref": ["GARD:0021179", "HP:0009827", "MEDGEN:8014", "MedDRA:10001926", "NCIT:C34370", "Orphanet:294925", "SCTID:62588002", "UMLS:C0002447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017424", "name": "Non-syndromic brachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nonsyndromic brachydactyly"], "xref": ["Orphanet:294937"]}
{"category": ["biolink:Disease"], "description": "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.", "id": "MONDO:0017425", "name": "Preaxial polydactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["preaxial polydactyly of hand"], "xref": ["GARD:0012767", "MEDGEN:87498", "OMIMPS:174400", "Orphanet:294939", "UMLS:C0345354", "icd11.foundation:1066753144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017426", "name": "Postaxial polydactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["postaxial polydactyly of hand"], "xref": ["GARD:0012460", "MEDGEN:609221", "Orphanet:294942", "SCTID:205131007", "UMLS:C0431904", "icd11.foundation:1146378807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017427", "name": "Congenital deformities of limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021181", "MEDGEN:60222", "MedDRA:10024500", "Orphanet:294944", "UMLS:C0206762"]}
{"category": ["biolink:Disease"], "description": "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.", "id": "MONDO:0017435", "name": "Popliteal pterygium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PPS"], "xref": ["DOID:0060055", "GARD:0021189", "ICD9:756.89", "MEDGEN:78543", "MESH:C562509", "NCIT:C118786", "Orphanet:294963", "SCTID:66783006", "UMLS:C0265259", "icd11.foundation:543218573"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.", "id": "MONDO:0017436", "name": "Lethal congenital contracture syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["LCCS"], "xref": ["DOID:0060558", "GARD:0012643", "MEDGEN:1863860", "OMIMPS:253310", "Orphanet:294965", "UMLS:C5848326", "icd11.foundation:1866017256"]}
{"category": ["biolink:Disease"], "description": "A non-syndromic amelia that involves the forelimb.", "id": "MONDO:0017437", "name": "Amelia of upper limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["forelimb non-syndromic amelia", "non-syndromic amelia of forelimb"], "xref": ["GARD:0021190", "HP:0009812", "MEDGEN:539335", "Orphanet:294967", "SCTID:205306000", "UMLS:C0265570", "icd11.foundation:565435388"]}
{"category": ["biolink:Disease"], "description": "A non-syndromic amelia that involves the hindlimb.", "id": "MONDO:0017438", "name": "Amelia of lower limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hindlimb non-syndromic amelia", "non-syndromic amelia of hindlimb"], "xref": ["GARD:0021191", "HP:0009818", "MEDGEN:539370", "Orphanet:294969", "SCTID:265798000", "UMLS:C0265621", "icd11.foundation:540310468"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017439", "name": "Tetra-amelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["total amelia"], "xref": ["GARD:0005148", "HP:0003057", "MEDGEN:444004", "MESH:C536498", "Orphanet:294971", "SCTID:702313004", "UMLS:C2931216"]}
{"category": ["biolink:Disease"], "description": "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.", "id": "MONDO:0017440", "name": "Humeral agenesis/hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of humerus", "congenital hypoplasia of humerus", "humeral intercalary meromelia"], "xref": ["GARD:0021192", "MEDGEN:672328", "Orphanet:294973", "UMLS:C0685375", "icd11.foundation:1431381856"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation in which the upper portion of a limb is either shortened or absent.", "id": "MONDO:0017441", "name": "Congenital absence of upper arm and forearm with hand present", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["humero-radio-ulnar intercalary transverse meromelia", "phocomelia"], "xref": ["GARD:0012123", "ICD10CM:Q71.1", "MEDGEN:539337", "NCIT:C34928", "Orphanet:294975", "SCTID:22841008", "UMLS:C0265574", "icd11.foundation:1157109358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017442", "name": "Congenital absence of thigh and lower leg with foot present", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Femorotibiofibular intercalary transverse meromelia"], "xref": ["GARD:0021193", "ICD10CM:Q72.1", "ICD9:755.33", "MEDGEN:539373", "Orphanet:294977", "SCTID:55852007", "UMLS:C0265626", "icd11.foundation:1165997650"]}
{"category": ["biolink:Disease"], "description": "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.", "id": "MONDO:0017443", "name": "Congenital absence of both forearm and hand", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["radio-ulnar terminal transverse meromelia"], "xref": ["GARD:0021194", "ICD10CM:Q71.2", "MEDGEN:727129", "Orphanet:294979", "UMLS:C1306663", "icd11.foundation:810894993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017444", "name": "Congenital absence of both lower leg and foot", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["tibiofibular terminal transverse meromelia"], "xref": ["GARD:0021195", "ICD10CM:Q72.2", "MEDGEN:609276", "Orphanet:294981", "SCTID:278532000", "UMLS:C0431991", "icd11.foundation:835905199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017445", "name": "Acheiria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of hand"], "xref": ["GARD:0021196", "MEDGEN:488815", "Orphanet:294983", "SCTID:371199008", "UMLS:C0265594", "icd11.foundation:1428065029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017446", "name": "Apodia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of foot"], "xref": ["GARD:0021197", "MEDGEN:488816", "Orphanet:294986", "SCTID:371197005", "UMLS:C0265624", "icd11.foundation:1419324219"]}
{"category": ["biolink:Disease"], "description": "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.", "id": "MONDO:0017449", "name": "Split hand", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["ectrodactyly of hand", "split hand", "split hand (disease)"], "xref": ["GARD:0025095", "HP:0001171", "MEDGEN:397570", "Orphanet:294992", "UMLS:C2699510", "icd11.foundation:924222970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017450", "name": "Split foot", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["split foot", "split foot (disease)"], "xref": ["GARD:0025096", "HP:0001839", "ICD10CM:Q72.7", "MEDGEN:140919", "Orphanet:294994", "SCTID:205358006", "UMLS:C0432028", "icd11.foundation:1406855248"]}
{"category": ["biolink:Disease"], "description": "A non-syndromic brachydactyly that involves the manus.", "id": "MONDO:0017451", "name": "Non-syndromic brachydactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_morphological_anomaly"], "synonym": ["manus non-syndromic brachydactyly", "non-syndromic brachydactyly of manus", "short fingers"], "xref": ["Orphanet:294996"]}
{"category": ["biolink:Disease"], "description": "A non-syndromic brachydactyly that involves the pes.", "id": "MONDO:0017452", "name": "Non-syndromic brachydactyly of toes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly"], "synonym": ["non-syndromic brachydactyly of pes", "pes non-syndromic brachydactyly", "short toes"], "xref": ["ICD9:755.66", "MEDGEN:609304", "Orphanet:294998", "SCTID:205346006", "UMLS:C0432029"]}
{"category": ["biolink:Disease"], "description": "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.", "id": "MONDO:0017453", "name": "Fetal parvovirus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Human parvovirus B19 caused infectious embryofetopathy", "Human parvovirus B19 infectious embryofetopathy", "Parvovirus antenatal infection", "mother-to-child transmission of parvovirus syndrome"], "xref": ["GARD:0004236", "MEDGEN:443992", "MESH:C536301", "Orphanet:295", "SCTID:715197005", "UMLS:C2931167", "icd11.foundation:648536096"]}
{"category": ["biolink:Disease"], "description": "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.", "id": "MONDO:0017454", "name": "Triphalangeal thumb-polysyndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["TPT-PS syndrome"], "xref": ["GARD:0025097", "MEDGEN:1830424", "OMIM:190605", "Orphanet:2950", "UMLS:C5779878"]}
{"category": ["biolink:Disease"], "description": "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.", "id": "MONDO:0017455", "name": "Hyperphalangy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["supernumerary phalanges", "supernumerary phalanx"], "xref": ["GARD:0021199", "MEDGEN:1639275", "Orphanet:295002", "SCTID:763535005", "UMLS:C4706507", "icd11.foundation:177215174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017456", "name": "Central polydactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["central polydactyly of hand", "mesoaxial polydactyly", "mesoaxial polydactyly of fingers", "mirror hand"], "xref": ["GARD:0021200", "MEDGEN:609220", "Orphanet:295004", "SCTID:205130008", "UMLS:C0431903", "icd11.foundation:243366415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017457", "name": "Preaxial polydactyly of toes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["bifid great toes", "bifid halluces", "bifid hallux", "preaxial polydactyly of foot"], "xref": ["GARD:0012771", "MEDGEN:609309", "Orphanet:295006", "SCTID:205132000", "UMLS:C0432036", "icd11.foundation:1685587490"]}
{"category": ["biolink:Disease"], "description": "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.", "id": "MONDO:0017460", "name": "Syndactyly type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["mitten hand", "syndactyly, mitten type", "unilateral syndactyly of digits 2-5"], "xref": ["GARD:0021201", "MEDGEN:1635950", "Orphanet:295012", "SCTID:763624007", "UMLS:C4706525", "icd11.foundation:2105806379"]}
{"category": ["biolink:Disease"], "description": "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.", "id": "MONDO:0017461", "name": "Familial isolated clinodactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021202", "MEDGEN:120550", "Orphanet:295014", "SCTID:763691008", "UMLS:C0265610"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.", "id": "MONDO:0017462", "name": "Congenital pseudoarthrosis of the tibia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the tibia", "congenital pseudarthrosis of tibia"], "xref": ["GARD:0021203", "MEDGEN:539398", "NCIT:C132080", "Orphanet:295018", "SCTID:55379003", "UMLS:C0265661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017463", "name": "Congenital pseudoarthrosis of the femur", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the femur"], "xref": ["GARD:0021204", "MEDGEN:1843312", "Orphanet:295020", "UMLS:C5679939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017464", "name": "Congenital pseudoarthrosis of the fibula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the fibula"], "xref": ["GARD:0021205", "MEDGEN:1842656", "Orphanet:295022", "UMLS:C5679935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017465", "name": "Congenital pseudoarthrosis of the radius", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the radius"], "xref": ["GARD:0021206", "MEDGEN:1842721", "Orphanet:295024", "UMLS:C5679936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017466", "name": "Congenital pseudoarthrosis of the ulna", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital pseudarthrosis of the ulna"], "xref": ["GARD:0021207", "MEDGEN:1843296", "Orphanet:295026", "UMLS:C5679937"]}
{"category": ["biolink:Disease"], "description": "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.", "id": "MONDO:0017467", "name": "Tibio-fibular synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Tibio-fibular fusion"], "xref": ["GARD:0021208", "MEDGEN:1616659", "Orphanet:295028", "SCTID:737581000", "UMLS:C4545230", "icd11.foundation:1756900121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017468", "name": "Congenital shoulder dislocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021209", "ICD9:755.59", "MEDGEN:539331", "Orphanet:295030", "SCTID:23876003", "UMLS:C0265562", "icd11.foundation:1926945459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017469", "name": "Congenital elbow dislocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital radial head dislocation", "isolated congenital elbow dislocation"], "xref": ["GARD:0021210", "MEDGEN:539330", "Orphanet:295032", "UMLS:C0265561", "icd11.foundation:1593186141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017470", "name": "Congenital knee dislocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital knee dislocation", "congenital knee dislocation (disease)"], "xref": ["GARD:0021211", "HP:0005191", "ICD9:754.41", "MEDGEN:75582", "MedDRA:10010520", "Orphanet:295034", "SCTID:59068006", "UMLS:C0265669", "icd11.foundation:1229590493"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017471", "name": "Congenital patella dislocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009692", "MEDGEN:91041", "MESH:C538081", "Orphanet:295036", "SCTID:205067002", "UMLS:C0345360", "icd11.foundation:1383302301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017472", "name": "Patella aplasia/hypoplasia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017473", "name": "Patella aplasia/hypoplasia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017474", "name": "Macrodactyly of fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["macrodactyly of hand"], "xref": ["GARD:0008529", "HP:0100746", "MEDGEN:107892", "MESH:C537720", "Orphanet:295044", "SCTID:297195000", "UMLS:C0574044", "icd11.foundation:1647254435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017475", "name": "Macrodactyly of toes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["macrodactyly of foot"], "xref": ["GARD:0006951", "HP:0100747", "MEDGEN:510644", "MESH:C537719", "Orphanet:295047", "UMLS:C0158768", "icd11.foundation:1196147958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017476", "name": "Upper limb hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021212", "MEDGEN:488921", "Orphanet:295049", "UMLS:C0575518", "icd11.foundation:663591902"]}
{"category": ["biolink:Disease"], "description": "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.", "id": "MONDO:0017477", "name": "Lower limb hypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021213", "MEDGEN:451056", "Orphanet:295051", "UMLS:C0431928", "icd11.foundation:601080430"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017478", "name": "Amelia of upper limb, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295053", "icd11.foundation:790781203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017479", "name": "Amelia of upper limb, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295055", "icd11.foundation:587439983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017480", "name": "Amelia of lower limb, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295057", "icd11.foundation:1342789404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017481", "name": "Amelia of lower limb, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025098", "MEDGEN:1775586", "Orphanet:295059", "UMLS:C2910294", "icd11.foundation:1627185647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017482", "name": "Humeral agenesis/hypoplasia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["humeral intercalary meromelia, unilateral"], "xref": ["Orphanet:295061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017483", "name": "Humeral agenesis/hypoplasia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["humeral intercalary meromelia, bilateral"], "xref": ["Orphanet:295063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017484", "name": "Femoral agenesis/hypoplasia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["femoral intercalary meromelia, unilateral"], "xref": ["Orphanet:295065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017485", "name": "Femoral agenesis/hypoplasia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["femoral intercalary meromelia, bilateral"], "xref": ["Orphanet:295067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017486", "name": "Radial hemimelia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["radial longitidinal meromelia, unilateral"], "xref": ["Orphanet:295069", "icd11.foundation:1956537587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017487", "name": "Radial hemimelia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["radial longitidinal meromelia, bilateral"], "xref": ["Orphanet:295071", "icd11.foundation:1701238542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017488", "name": "Ulnar hemimelia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["ulnar longitudinal meromelia, bilateral"], "xref": ["Orphanet:295073", "icd11.foundation:837973744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017489", "name": "Ulnar hemimelia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["ulnar longitudinal meromelia, unilateral"], "xref": ["Orphanet:295075", "icd11.foundation:1826480139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017490", "name": "Tibial hemimelia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["tibial longitudinal meromelia, unilateral"], "xref": ["Orphanet:295077", "icd11.foundation:863808263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017491", "name": "Tibial hemimelia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tibial longitudinal meromelia, bilateral"], "xref": ["GARD:0025099", "MEDGEN:1776601", "Orphanet:295079", "UMLS:C5438440", "icd11.foundation:1562926182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017492", "name": "Fibular hemimelia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["fibular longitudinal meromelia, unilateral"], "xref": ["Orphanet:295081", "icd11.foundation:1359584794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017493", "name": "Fibular hemimelia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["fibular longitudinal meromelia, bilateral"], "xref": ["Orphanet:295083", "icd11.foundation:1479927692"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017496", "name": "Congenital absence of thigh and lower leg with foot present, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["Femorotibiofibular intercalary transverse meromelia, unilateral"], "xref": ["Orphanet:295089"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017497", "name": "Congenital absence of thigh and lower leg with foot present, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Femorotibiofibular intercalary transverse meromelia, bilateral"], "xref": ["GARD:0025100", "ICD10CM:Q72.13", "MEDGEN:1843495", "Orphanet:295091", "UMLS:C2910297"]}
{"category": ["biolink:Disease"], "description": "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.", "id": "MONDO:0017498", "name": "Congenital absence of both forearm and hand, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["radio-ulnar terminal transverse meromelia, unilateral"], "xref": ["Orphanet:295093", "icd11.foundation:2019491585"]}
{"category": ["biolink:Disease"], "description": "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.", "id": "MONDO:0017499", "name": "Congenital absence of both forearm and hand, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["radio-ulnar terminal transverse meromelia, bilateral"], "xref": ["GARD:0025101", "ICD10CM:Q71.23", "MEDGEN:1843505", "Orphanet:295095", "UMLS:C2910270", "icd11.foundation:1524444518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017500", "name": "Congenital absence of both lower leg and foot, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["tibiofibular terminal transverse meromelia, unilateral"], "xref": ["Orphanet:295097", "icd11.foundation:608099172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017501", "name": "Congenital absence of both lower leg and foot, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tibiofibular terminal transverse meromelia, bilateral"], "xref": ["GARD:0025102", "ICD10CM:Q72.23", "MEDGEN:1759560", "Orphanet:295099", "UMLS:C2910300", "icd11.foundation:113051911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017502", "name": "Acheiria, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["congenital absence of hand, unilateral"], "xref": ["Orphanet:295101", "icd11.foundation:1906312110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017503", "name": "Acheiria, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital absence of hand, bilateral"], "xref": ["GARD:0025103", "MEDGEN:672347", "Orphanet:295103", "SCTID:371189003", "UMLS:C0685394", "icd11.foundation:1430605018"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017504", "name": "Apodia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["congenital absence of foot, unilateral"], "xref": ["Orphanet:295105", "icd11.foundation:1499762342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017505", "name": "Apodia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital absence of foot, bilateral"], "xref": ["GARD:0025104", "MEDGEN:672391", "Orphanet:295107", "UMLS:C0685440", "icd11.foundation:1292290082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017509", "name": "Adactyly of foot, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["congenital absence of toes, unilateral"], "xref": ["Orphanet:295116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017510", "name": "Adactyly of foot, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital absence of toes, bilateral"], "xref": ["GARD:0025105", "MEDGEN:1718340", "Orphanet:295118", "UMLS:C5395377"]}
{"category": ["biolink:Disease"], "description": "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.", "id": "MONDO:0017511", "name": "Split hand, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295120", "icd11.foundation:1675694993"]}
{"category": ["biolink:Disease"], "description": "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.", "id": "MONDO:0017512", "name": "Split hand, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025106", "MEDGEN:1752875", "Orphanet:295122", "UMLS:C5438934", "icd11.foundation:1096991220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017513", "name": "Split foot, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295124", "icd11.foundation:1995563146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017514", "name": "Split foot, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025107", "ICD10CM:Q72.73", "MEDGEN:1757565", "Orphanet:295126", "UMLS:C2910315", "icd11.foundation:1227623929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017515", "name": "Brachydactyly of fingers, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["short fingers, unilateral"], "xref": ["Orphanet:295128", "icd11.foundation:825108601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017516", "name": "Brachydactyly of fingers, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["short fingers, bilateral"], "xref": ["MEDGEN:1665318", "Orphanet:295130", "UMLS:C4751023", "icd11.foundation:412618992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017517", "name": "Brachydactyly of toes, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["short toes, unilateral"], "xref": ["Orphanet:295132", "icd11.foundation:714196201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017518", "name": "Brachydactyly of toes, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["short toes, bilateral"], "xref": ["MEDGEN:1702894", "Orphanet:295134", "UMLS:C5229808", "icd11.foundation:357312922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017519", "name": "Symbrachydactyly of hand and foot, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017520", "name": "Symbrachydactyly of hand and foot, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025108", "MEDGEN:754111", "Orphanet:295138", "UMLS:C2919807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017521", "name": "Hyperphalangy, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["hyperphalangy in digits 2-5", "supernumerary phalanges, unilateral", "supernumerary phalanx, unilateral"], "xref": ["Orphanet:295140", "icd11.foundation:1023621052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017522", "name": "Hyperphalangy, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["supernumerary phalanges, bilateral", "supernumerary phalanx, bilateral"], "xref": ["Orphanet:295142", "icd11.foundation:528541151"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017523", "name": "Polydactyly of a biphalangeal thumb, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 1, unilateral"], "xref": ["Orphanet:295144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017524", "name": "Polydactyly of a biphalangeal thumb, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 1, bilateral"], "xref": ["Orphanet:295146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017525", "name": "Polydactyly of a triphalangeal thumb, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 2, unilateral", "unilateral PPD2"], "xref": ["Orphanet:295148", "icd11.foundation:71240015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017526", "name": "Polydactyly of a triphalangeal thumb, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["bilateral PPD2", "preaxial polydactyly type 2, bilateral"], "xref": ["Orphanet:295150", "icd11.foundation:866920497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017527", "name": "Polydactyly of an index finger, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 3, unilateral"], "xref": ["Orphanet:295152", "icd11.foundation:734031453"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017528", "name": "Polydactyly of an index finger, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["preaxial polydactyly type 3, bilateral"], "xref": ["GARD:0025109", "MEDGEN:1727346", "Orphanet:295154", "UMLS:C5438861", "icd11.foundation:806174152"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017529", "name": "Polysyndactyly, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 4, unilateral"], "xref": ["Orphanet:295159", "icd11.foundation:127802550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017530", "name": "Polysyndactyly, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["preaxial polydactyly type 4, bilateral"], "xref": ["Orphanet:295161", "icd11.foundation:622710483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017531", "name": "Postaxial polydactyly type a, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295163", "icd11.foundation:471986216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017532", "name": "Postaxial polydactyly type a, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295165", "icd11.foundation:1050812995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017533", "name": "Postaxial polydactyly type b, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295167", "icd11.foundation:154207037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017534", "name": "Postaxial polydactyly type b, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295169", "icd11.foundation:921497168"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017535", "name": "Central polydactyly of fingers, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["mesoaxial polydactyly of fingers, unilateral", "mirror hand, unilateral"], "xref": ["Orphanet:295171", "icd11.foundation:738371690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017536", "name": "Central polydactyly of fingers, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mesoaxial polydactyly of fingers, bilateral", "mirror hand, bilateral"], "xref": ["GARD:0025110", "MEDGEN:1747972", "Orphanet:295173", "UMLS:C5437814", "icd11.foundation:462522644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017537", "name": "Preaxial polydactyly of toes, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["bifid great toes, unilateral", "bifid halluces, unilateral", "bifid hallux, unilateral"], "xref": ["Orphanet:295175", "icd11.foundation:841462147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017538", "name": "Preaxial polydactyly of toes, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bifid great toes, bilateral", "bifid halluces, bilateral", "bifid hallux, bilateral"], "xref": ["GARD:0025111", "MEDGEN:1741594", "Orphanet:295177", "UMLS:C5437916", "icd11.foundation:3040646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017543", "name": "Zygodactyly type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SD1, Lueken type", "SD1b", "Zygodactyly, Lueken type", "syndactyly type 1, Lueken type", "syndactyly type 1b"], "xref": ["GARD:0021214", "MEDGEN:1842290", "Orphanet:295189", "UMLS:C5679982", "icd11.foundation:1092417894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017544", "name": "Zygodactyly type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SD1, Montagu type", "SD1c", "Zygodactyly, Montagu type", "syndactyly type 1, Montagu type", "syndactyly type 1c"], "xref": ["GARD:0021215", "MEDGEN:1843229", "Orphanet:295191", "UMLS:C5679983", "icd11.foundation:1831534806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017545", "name": "Zygodactyly type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["SD1, Castilla type", "SD1d", "Zygodactyly, Castilla type", "syndactyly type 1, Castilla type", "syndactyly type 1d"], "xref": ["GARD:0021216", "MEDGEN:1843119", "Orphanet:295193", "UMLS:C5679981", "icd11.foundation:1391914407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017546", "name": "Congenital vertical talus, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021217", "MEDGEN:1842526", "Orphanet:295201", "UMLS:C5681089", "icd11.foundation:2123428798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017547", "name": "Congenital vertical talus, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021218", "MEDGEN:349821", "Orphanet:295203", "UMLS:C1860446", "icd11.foundation:1224987332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017548", "name": "Humero-radio-ulnar synostosis, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["humero-radio-ulnar fusion, unilateral"], "xref": ["Orphanet:295205", "icd11.foundation:322904301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017549", "name": "Humero-radio-ulnar synostosis, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["humero-radio-ulnar fusion, bilateral"], "xref": ["GARD:0025112", "MEDGEN:1744773", "Orphanet:295207", "UMLS:C5438978", "icd11.foundation:557249772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017550", "name": "Humero-radial synostosis, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["humero-radial fusion, unilateral"], "xref": ["Orphanet:295209", "icd11.foundation:695744743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017551", "name": "Humero-radial synostosis, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["humero-radial fusion, bilateral"], "xref": ["Orphanet:295211", "icd11.foundation:1424025632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017552", "name": "Humero-ulnar synostosis, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["humero-ulnar fusion, unilateral"], "xref": ["GARD:0021219", "Orphanet:295213", "icd11.foundation:1726561305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017553", "name": "Humero-ulnar synostosis, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["humero-ulnar fusion, bilateral"], "xref": ["GARD:0021220", "MEDGEN:1776945", "Orphanet:295215", "UMLS:C5438980", "icd11.foundation:1331627150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017554", "name": "Radio-ulnar synostosis, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["radio-ulnar fusion, unilateral"], "xref": ["GARD:0021221", "Orphanet:295217", "icd11.foundation:2026644976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017555", "name": "Radio-ulnar synostosis, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["radio-ulnar fusion, bilateral"], "xref": ["GARD:0021222", "Orphanet:295219", "icd11.foundation:1515190165"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017556", "name": "Madelung deformity, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295221", "icd11.foundation:1964514438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017557", "name": "Madelung deformity, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025113", "MEDGEN:1723370", "Orphanet:295223", "UMLS:C5437754", "icd11.foundation:1577029287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017558", "name": "Congenital elbow dislocation, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021223", "MEDGEN:1842743", "Orphanet:295225", "UMLS:C5681091", "icd11.foundation:1630272046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017559", "name": "Congenital elbow dislocation, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021224", "MEDGEN:1757455", "Orphanet:295227", "UMLS:C5437776", "icd11.foundation:1454955344"]}
{"category": ["biolink:Disease"], "description": "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.", "id": "MONDO:0017560", "name": "Congenital genu recurvatum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["genu recurvatum", "hyperextension deformity of knee", "hyperextension of knee deformity"], "xref": ["GARD:0021225", "ICD9:754.40", "MEDGEN:508941", "NCIT:C103184", "Orphanet:295229", "SCTID:205063003", "UMLS:C0152235", "icd11.foundation:1709221347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017561", "name": "Congenital genu flexum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021226", "MEDGEN:1842651", "Orphanet:295232", "UMLS:C5681090", "icd11.foundation:830907514"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017562", "name": "Congenital patella dislocation, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:295234", "icd11.foundation:1894799098"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017563", "name": "Congenital patella dislocation, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025114", "MEDGEN:1741152", "Orphanet:295237", "UMLS:C5437898", "icd11.foundation:1604828649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017564", "name": "Macrodactyly of fingers, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["macrodactyly of hand, unilateral"], "xref": ["GARD:0021227", "MEDGEN:1843434", "Orphanet:295239", "UMLS:C5679987", "icd11.foundation:128394973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017565", "name": "Macrodactyly of fingers, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["macrodactyly of hand, bilateral"], "xref": ["GARD:0021228", "MEDGEN:1730289", "Orphanet:295241", "UMLS:C5437813", "icd11.foundation:514958635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017566", "name": "Macrodactyly of toes, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["macrodactyly of foot, unilateral"], "xref": ["GARD:0021229", "MEDGEN:1843435", "Orphanet:295243", "UMLS:C5679988", "icd11.foundation:1009940304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017567", "name": "Macrodactyly of toes, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["macrodactyly of foot, bilateral"], "xref": ["GARD:0021230", "MEDGEN:1740751", "Orphanet:295245", "UMLS:C5437810", "icd11.foundation:84822459"]}
{"category": ["biolink:Disease"], "description": "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.", "id": "MONDO:0017568", "name": "Prata-liberal-goncalves syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acrodysplasia scoliosis", "brachydactyly-scoliosis-carpal fusion syndrome"], "xref": ["GARD:0000491", "MEDGEN:419156", "Orphanet:2956", "UMLS:C2931761"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.", "id": "MONDO:0017569", "name": "De barsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["De Barsy syndrome", "cutis laxa-corneal clouding-intellectual disability syndrome", "progeroid syndrome, De Barsy type"], "xref": ["DOID:0070143", "GARD:0000049", "MEDGEN:82794", "MESH:C535990", "NORD:1034", "Orphanet:2962", "PMID:18388779", "SCTID:238826008", "UMLS:C0268354"]}
{"category": ["biolink:Disease"], "description": "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.", "id": "MONDO:0017570", "name": "Leukocyte adhesion deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:6612", "GARD:0016616", "MEDGEN:124419", "NANDO:1200355", "NANDO:2200755", "NCIT:C27874", "Orphanet:2968", "SCTID:77358003", "UMLS:C0272187", "icd11.foundation:317341989"]}
{"category": ["biolink:Disease"], "description": "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.", "id": "MONDO:0017571", "name": "Proteus-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Cohen-Hayden syndrome"], "xref": ["GARD:0012801", "MEDGEN:356222", "NCIT:C179930", "Orphanet:2969", "SCTID:716862002", "UMLS:C1866398"]}
{"category": ["biolink:Disease"], "description": "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.", "id": "MONDO:0017572", "name": "Tick-borne encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TBE", "Tick-borne viral encephalitis"], "xref": ["DOID:0050175", "EFO:1001309", "GARD:0005216", "ICD10CM:A84", "ICD9:063.2", "MEDGEN:4034", "MESH:D004675", "MedDRA:10043848", "NCIT:C34579", "Orphanet:297", "UMLS:C0014061", "icd11.foundation:835129952"]}
{"category": ["biolink:Disease"], "description": "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.", "id": "MONDO:0017573", "name": "46,xx disorder of sex development-anorectal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["female pseudohermaphroditism-anorectal anomalies syndrome"], "xref": ["GARD:0018782", "MEDGEN:1382292", "Orphanet:2973", "UMLS:C4518078"]}
{"category": ["biolink:Disease"], "description": "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.", "id": "MONDO:0017574", "name": "Chronic intestinal pseudoobstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CIPO", "Chronic Intestinal Pseudo-Obstruction", "chronic intestinal pseudo-obstruction", "cipo", "intestinal pseudo-obstruction, chronic"], "xref": ["GARD:0012744", "MEDGEN:536759", "NANDO:1200458", "NANDO:2200946", "NORD:970", "Orphanet:2978", "SCTID:235828008", "UMLS:C0238062"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.", "id": "MONDO:0017575", "name": "Mitochondrial neurogastrointestinal encephalomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MNGIE", "Mitochondrial Neurogastrointestinal Encephalopathy", "Mitochondrial neurogastrointestinal encephalopathy", "mitochondrial Neurogastrointestingal encephalopathy"], "xref": ["GARD:0009920", "MEDGEN:167876", "MESH:C537477", "NCIT:C119678", "NORD:1449", "Orphanet:298", "SCTID:718214007", "UMLS:C0872218"]}
{"category": ["biolink:Disease"], "description": "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.", "id": "MONDO:0017576", "name": "46,xx disorder of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["46,XX DSD", "46,XX differences of Sex development", "46,XX disorders of Sex development", "female pseudohermaphroditism"], "xref": ["GARD:0018783", "MEDGEN:424728", "MESH:D058489", "NCIT:C127169", "Orphanet:2982", "SCTID:8800006", "UMLS:C2936403"]}
{"category": ["biolink:Disease"], "description": "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.", "id": "MONDO:0017577", "name": "Spontaneous periodic hypothermia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Shapiro syndrome", "episodic spontaneous hypothermia"], "xref": ["GARD:0004815", "MEDGEN:419438", "MESH:C537594", "Orphanet:29822", "UMLS:C2931542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017578", "name": "Disorder of thiamine metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021231", "MEDGEN:1842558", "Orphanet:298644", "UMLS:C5681092"]}
{"category": ["biolink:Disease"], "description": "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.", "id": "MONDO:0017579", "name": "Baraitser-winter cerebrofrontofacial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baraitser-Winter syndrome"], "xref": ["DOID:0060229", "GARD:0005279", "ICD9:759.89", "MEDGEN:340016", "OMIMPS:243310", "Orphanet:2995", "SCTID:702410002", "UMLS:C1853623"]}
{"category": ["biolink:Disease"], "description": "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.", "id": "MONDO:0017580", "name": "11p15.4 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(11)p(15.4)", "trisomy 11p15.4"], "xref": ["GARD:0021232", "MEDGEN:1660019", "Orphanet:300305", "UMLS:C4749508"]}
{"category": ["biolink:Disease"], "description": "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.", "id": "MONDO:0017582", "name": "Pituitary adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of pituitary", "carcinoma of pituitary gland", "carcinoma of the pituitary", "carcinoma of the pituitary gland", "pituitary adenocarcinoma (disease)", "pituitary carcinoma", "pituitary gland adenocarcinoma", "pituitary gland carcinoma"], "xref": ["DOID:4916", "GARD:0009371", "HP:0011763", "ICDO:8272/3", "MEDGEN:91096", "NCIT:C4536", "ONCOTREE:PTCA", "Orphanet:300385", "SCTID:254955001", "UMLS:C0346300"]}
{"category": ["biolink:Disease"], "description": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.", "id": "MONDO:0017583", "name": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018784", "MEDGEN:904039", "Orphanet:3004", "UMLS:C4275100"]}
{"category": ["biolink:Disease"], "description": "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face", "id": "MONDO:0017584", "name": "Sagliker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021233", "MEDGEN:1808631", "Orphanet:300493", "UMLS:C5681093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017585", "name": "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0011006", "MEDGEN:1650687", "Orphanet:300501", "UMLS:C4751109"]}
{"category": ["biolink:Disease"], "description": "Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.", "id": "MONDO:0017586", "name": "Onychocytic matricoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acanthoma of the nail matrix"], "xref": ["GARD:0011007", "MEDGEN:1662490", "Orphanet:300504", "UMLS:C4751108"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a UBERON:0002283.", "id": "MONDO:0017587", "name": "Onychomatricoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nail matrix neoplasm", "nail matrix tumor", "nail matrix tumour", "neoplasm of nail matrix", "tumor of nail matrix", "tumour of nail matrix"], "xref": ["GARD:0021234", "MEDGEN:1667118", "Orphanet:300512", "UMLS:C4751078"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a nail.", "id": "MONDO:0017588", "name": "Nail tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["nail neoplasm", "nail neoplasm (disease)", "nail tumor", "neoplasm of nail", "tumor of nail", "tumour of nail"], "xref": ["GARD:0021235", "MEDGEN:867576", "Orphanet:300515", "UMLS:C4021961"]}
{"category": ["biolink:Disease"], "description": "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.", "id": "MONDO:0017589", "name": "Follicular cholangitis and pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["follicular pancreatocholangitis"], "xref": ["GARD:0021236", "MEDGEN:1667817", "Orphanet:300552", "UMLS:C4749906"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.", "id": "MONDO:0017590", "name": "Carcinoma of the ampulla of vater", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ampulloma", "ampulla of Vater carcinoma", "ampullary carcinoma", "carcinoma of ampulla of vater", "carcinoma of hepatopancreatic ampulla", "hepatopancreatic ampulla carcinoma"], "xref": ["DOID:4932", "EFO:1000079", "GARD:0021237", "MEDGEN:120461", "MedDRA:10048853", "NCIT:C3908", "ONCOTREE:AMPCA", "Orphanet:300557", "SCTID:254609000", "UMLS:C0262401", "icd11.foundation:267067189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017591", "name": "Combined pulmonary fibrosis-emphysema syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CPFE"], "xref": ["GARD:0021238", "MEDGEN:838971", "Orphanet:300564", "UMLS:C3872815", "icd11.foundation:1361267223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017592", "name": "Staphylococcal toxemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021239", "MEDGEN:799765", "MedDRA:10041932", "Orphanet:300579", "UMLS:C0854511"]}
{"category": ["biolink:Disease"], "description": "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.", "id": "MONDO:0017593", "name": "Juvenile amyotrophic lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JALS", "juvenile Charcot disease", "juvenile Lou Gehrig disease"], "xref": ["GARD:0011901", "MEDGEN:923704", "Orphanet:300605", "SCTID:718555006", "UMLS:C3468114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017594", "name": "Indolent b-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["indolent B-cell NHL"], "xref": ["GARD:0021244", "MEDGEN:1741600", "NCIT:C171299", "Orphanet:300842", "UMLS:C5419078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017595", "name": "Aggressive b-cell non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["aggressive B-cell NHL"], "xref": ["GARD:0021245", "MEDGEN:1791561", "NCIT:C178541", "Orphanet:300846", "UMLS:C5555120"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma arising from the central nervous system.", "id": "MONDO:0017596", "name": "Diffuse large b-cell lymphoma of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CNS DLBCL", "DLBCL of the CNS", "central nervous system diffuse large B-cell lymphoma", "diffuse large B-cell lymphoma of central nervous system", "primary DLBCL of the CNS", "primary diffuse large B-cell lymphoma of the central nervous system"], "xref": ["DOID:0081313", "GARD:0021246", "ICDO:9680/3", "MEDGEN:378339", "NCIT:C71720", "Orphanet:300849", "SCTID:734066005", "UMLS:C2026186", "icd11.foundation:1029172881"]}
{"category": ["biolink:Disease"], "description": "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.", "id": "MONDO:0017597", "name": "T-cell/histiocyte rich large b cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["T-cell rich/histiocyte-rich large B-cell lymphoma", "T-cell/histiocyte rich lymphoma", "T-cell/histiocyte-rich large B-cell lymphoma", "THRLBCL"], "xref": ["GARD:0012257", "ICDO:9680/3", "ICDO:9688/3", "MEDGEN:232943", "NCIT:C9496", "ONCOTREE:THRLBCL", "Orphanet:300857", "UMLS:C1321547", "icd11.foundation:257833622"]}
{"category": ["biolink:Disease"], "description": "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.", "id": "MONDO:0017598", "name": "Primary cutaneous anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ALCL, cutaneous", "C-ALCL", "anaplastic large-cell lymphoma, primary cutaneous type", "primary C-ALCL", "primary anaplastic large cell lymphoma of skin", "primary anaplastic large cell lymphoma of the skin", "primary cutaneous CD30 Positive anaplastic large cell lymphoma", "primary cutaneous CD30+ ALCL", "primary cutaneous CD30+ anaplastic large cell lymphoma", "regressive atypical histiocytosis"], "xref": ["GARD:0021247", "MEDGEN:266255", "MESH:D054446", "MedDRA:10065863", "NCIT:C6860", "ONCOTREE:PCALCL", "Orphanet:300865", "UMLS:C1301362", "icd11.foundation:1972636482"]}
{"category": ["biolink:Disease"], "description": "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.", "id": "MONDO:0017599", "name": "Splenic diffuse red pulp small b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SDRPL", "splenic diffuse red pulp lymphoma"], "xref": ["GARD:0021248", "ICDO:9591/3", "MEDGEN:397437", "NCIT:C80309", "ONCOTREE:SDRPL", "Orphanet:300869", "SCTID:763884007", "UMLS:C2699508", "icd11.foundation:1970934986"]}
{"category": ["biolink:Disease"], "description": "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).", "id": "MONDO:0017600", "name": "Hairy cell leukemia variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HCL-V", "HCL-v", "hairy cell leukemia variant", "leukemic reticuloendotheliosis variant", "prolymphocytic variant of HCL", "prolymphocytic variant of hairy cell leukaemia", "prolymphocytic variant of hairy cell leukemia"], "xref": ["DOID:713", "GARD:0021249", "ICDO:9591/3", "MEDGEN:91160", "MedDRA:10019054", "NCIT:C7401", "Orphanet:300878", "SCTID:277568007", "UMLS:C0349633"]}
{"category": ["biolink:Disease"], "description": "An Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.", "id": "MONDO:0017601", "name": "Diffuse large b-cell lymphoma with chronic inflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DLBCL with chronic inflammation"], "xref": ["GARD:0021250", "MEDGEN:1374328", "NCIT:C80289", "Orphanet:300888", "UMLS:C4511460"]}
{"category": ["biolink:Disease"], "description": "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).", "id": "MONDO:0017602", "name": "Alk-positive anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ALCL, ALK+", "ALK+ ALCL", "ALK+ anaplastic large cell lymphoma", "ALK-positive anaplastic large cell lymphoma", "ALKoma", "anaplastic large cell lymphoma, ALK-positive"], "xref": ["GARD:0021251", "ICD10CM:C84.6", "ICDO:9714/3", "MEDGEN:233117", "NCIT:C37193", "Orphanet:300895", "UMLS:C1332079"]}
{"category": ["biolink:Disease"], "description": "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).", "id": "MONDO:0017603", "name": "Alk-negative anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ALCL, ALK-", "ALK- ALCL", "ALK- anaplastic large cell lymphoma", "ALK-negative anaplastic large cell lymphoma", "anaplastic large cell lymphoma, ALK-negative"], "xref": ["EFO:1000083", "GARD:0021252", "ICD10CM:C84.7", "ICDO:9702/3", "MEDGEN:272266", "NCIT:C37194", "Orphanet:300903", "UMLS:C1332078"]}
{"category": ["biolink:Disease"], "description": "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.", "id": "MONDO:0017604", "name": "Marginal zone lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MZBCL", "MZL", "lymphoma of marginal zone B cell", "marginal zone B cell lymphoma", "marginal zone B-cell lymphoma", "marginal zone lymphoma"], "xref": ["DOID:0050748", "EFO:1000630", "GARD:0013237", "ICDO:9699/3", "MEDGEN:277950", "NCIT:C4341", "ONCOTREE:MZL", "Orphanet:300912", "SCTID:447100004", "UMLS:C1367654"]}
{"category": ["biolink:Disease"], "description": "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.", "id": "MONDO:0017607", "name": "Caudal regression sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Caudal Regression Syndrome", "caudal dysplasia", "sacral agenesis syndrome", "sacral regression syndrome"], "xref": ["DOID:0080700", "GARD:0006007", "MEDGEN:81254", "MedDRA:10054842", "MedDRA:10059387", "MedDRA:10068896", "NCIT:C124505", "NORD:902", "Orphanet:3027", "UMLS:C0300948", "icd11.foundation:269997265"]}
{"category": ["biolink:Disease"], "description": "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.", "id": "MONDO:0017609", "name": "Renal tubular dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["primitive renal tubule syndrome", "renotubular dysgenesis"], "xref": ["GARD:0000379", "MEDGEN:82738", "Orphanet:3033", "SCTID:702397002", "UMLS:C0266313", "icd11.foundation:191424358"]}
{"category": ["biolink:Disease"], "description": "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.", "id": "MONDO:0017610", "name": "Epidermolysis bullosa simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["EBS", "EEB", "epidermolysis bullosa simplex"], "xref": ["DOID:4644", "GARD:0010752", "ICD10CM:Q81.0", "ICD9:757.39", "MEDGEN:86896", "MESH:D016110", "NANDO:1200235", "NANDO:2201341", "NANDO:2201375", "NCIT:C84692", "OMIMPS:131760", "Orphanet:304", "SCTID:67144006", "UMLS:C0079298", "icd11.foundation:1860717527"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.", "id": "MONDO:0017611", "name": "Pituitary tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of pituitary", "neoplasm of pituitary gland", "neoplasm of the pituitary", "neoplasm of the pituitary gland", "pituitary gland neoplasm", "pituitary gland tumor", "pituitary gland tumour", "pituitary neoplasm", "pituitary tumor", "tumor of pituitary", "tumor of pituitary gland", "tumor of the pituitary", "tumor of the pituitary gland", "tumour of pituitary", "tumour of pituitary gland", "tumour of the pituitary", "tumour of the pituitary gland"], "xref": ["GARD:0021253", "ICD9:239.7", "MEDGEN:19326", "NCIT:C3330", "Orphanet:304055", "SCTID:127024001", "UMLS:C0032019"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.", "id": "MONDO:0017612", "name": "Junctional epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["EBJ", "JEB", "epidermolysis bullosa atrophicans", "junctional epidermolysis bullosa"], "xref": ["DOID:3209", "GARD:0002152", "MEDGEN:86898", "MESH:D016109", "NANDO:1200236", "NANDO:2201342", "NCIT:C90598", "OMIMPS:226650", "Orphanet:305", "SCTID:79855003", "UMLS:C0079301", "icd11.foundation:1501260457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017613", "name": "Intellectual disability-hypotonia-skin hyperpigmentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["Medrano-Roldan syndrome"], "xref": ["Orphanet:3050"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.", "id": "MONDO:0017614", "name": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Young-Hughes syndrome"], "xref": ["GARD:0000345", "MEDGEN:162925", "MESH:C536715", "Orphanet:3055", "UMLS:C0796264"]}
{"category": ["biolink:Disease"], "description": "A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.", "id": "MONDO:0017615", "name": "Benign familial infantile epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BFIE", "BFIS", "benign familial infantile convulsions", "benign familial infantile seizures", "seizures, benign familial infantile"], "xref": ["DOID:0060169", "GARD:0000857", "ICD9:V17.2", "MEDGEN:1806836", "OMIMPS:601764", "Orphanet:306", "SCTID:230410004", "UMLS:C5575231", "icd11.foundation:1944845279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017616", "name": "X-linked intellectual disability, schutz type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:3062"]}
{"category": ["biolink:Disease"], "description": "A acquired immunodeficiency that occurs in an adult.", "id": "MONDO:0017617", "name": "Acquired adult-onset immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acquired immunodeficiency of adults", "adult acquired immunodeficiency", "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"], "xref": ["GARD:0011992", "MEDGEN:1684214", "Orphanet:306431", "UMLS:C5191336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017618", "name": "Congenital sucrase-isomaltase deficiency with starch intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSID with starch intolerance", "congenital sucrase-isomaltose malabsorption with starch intolerance", "congenital sucrose intolerance with starch intolerance", "disaccharide intolerance with starch intolerance"], "xref": ["GARD:0025115", "Orphanet:306436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017619", "name": "Congenital sucrase-isomaltase deficiency with minimal starch tolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSID with minimal starch tolerance", "congenital sucrase-isomaltose malabsorption with minimal starch tolerance", "congenital sucrose intolerance with minimal starch tolerance", "disaccharide intolerance with minimal starch tolerance"], "xref": ["GARD:0025116", "Orphanet:306446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017620", "name": "Congenital sucrase-isomaltase deficiency without starch intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSID without starch intolerance", "congenital sucrase-isomaltose malabsorption without starch intolerance", "congenital sucrose intolerance without starch intolerance", "disaccharide intolerance without starch intolerance"], "xref": ["GARD:0025117", "Orphanet:306462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017621", "name": "Congenital sucrase-isomaltase deficiency with starch and lactose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSID with starch and lactose intolerance", "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance", "congenital sucrose intolerance with starch and lactose intolerance", "disaccharide intolerance with starch and lactose intolerance"], "xref": ["GARD:0025118", "Orphanet:306474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017622", "name": "Congenital sucrase-isomaltase deficiency without sucrose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CSID without sucrose intolerance", "congenital sucrose-isomaltose malabsorption without sucrose intolerance", "disaccharide intolerance without sucrose intolerance"], "xref": ["GARD:0025119", "Orphanet:306486"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.", "id": "MONDO:0017623", "name": "Pten hamartoma tumor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["PHTS", "PTEN hamartoma tumor syndrome", "PTEN-related Hamartoma tumor syndrome"], "xref": ["DOID:0080191", "GARD:0012800", "MEDGEN:368366", "NCIT:C179915", "NORD:1631", "Orphanet:306498", "SCTID:722859001", "UMLS:C1959582"]}
{"category": ["biolink:Disease"], "description": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).", "id": "MONDO:0017624", "name": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHHNC", "Michellis-Castrillo syndrome"], "xref": ["GARD:0021254", "MEDGEN:1843047", "Orphanet:306516", "UMLS:C5679977"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017625", "name": "Familial primary hypomagnesemia with hypocalcuria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025120", "Orphanet:306519", "SCTID:711151004"]}
{"category": ["biolink:Disease"], "description": "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.", "id": "MONDO:0017626", "name": "Familial primary hypomagnesemia with normocalcuria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025121", "Orphanet:306522"]}
{"category": ["biolink:Disease"], "description": "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.", "id": "MONDO:0017627", "name": "Congenital hereditary facial paralysis-variable hearing loss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital hereditary facial palsy with variable deafness", "congenital hereditary facial palsy with variable hearing loss", "congenital hereditary facial paralysis with variable deafness", "congenital hereditary facial paralysis-variable deafness syndrome"], "xref": ["GARD:0017379", "MEDGEN:928261", "Orphanet:306530", "SCTID:722389002", "UMLS:C4302592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017628", "name": "Myospherulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spherulocytosis", "subcutaneous spherulocystic disease"], "xref": ["GARD:0021255", "ICD9:136.8", "MEDGEN:507970", "Orphanet:306553", "SCTID:81139004", "UMLS:C0027123"]}
{"category": ["biolink:Disease"], "description": "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.", "id": "MONDO:0017630", "name": "X-linked complicated spastic paraplegia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["SPG1"], "xref": ["GARD:0012525", "MEDGEN:1843445", "Orphanet:306617", "UMLS:C5779711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017634", "name": "Non-infectious anterior uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["non-infectious iridocyclitis"], "xref": ["GARD:0021260", "MEDGEN:573080", "Orphanet:306648", "SCTID:267619000", "UMLS:C0339317"]}
{"category": ["biolink:Disease"], "description": "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.", "id": "MONDO:0017636", "name": "Hemiparkinsonism-hemiatrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hp-HA syndrome"], "xref": ["GARD:0021262", "MEDGEN:1627807", "Orphanet:306669", "UMLS:C4545231", "icd11.foundation:193784690"]}
{"category": ["biolink:Disease"], "description": "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (Parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)", "id": "MONDO:0017638", "name": "Manganese poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Manganism", "manganese intoxication"], "xref": ["EFO:1001808", "GARD:0021264", "ICD9:503", "MESH:D020149", "MedDRA:10058951", "Orphanet:306682", "SCTID:88687001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017639", "name": "Carbon monoxide-induced parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CO-induced parkinsonism"], "xref": ["GARD:0021265", "MEDGEN:581450", "Orphanet:306686", "SCTID:230293003", "UMLS:C0393565"]}
{"category": ["biolink:Disease"], "description": "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.", "id": "MONDO:0017640", "name": "Cyanide-induced parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021266", "MEDGEN:1639789", "Orphanet:306692", "SCTID:766872002", "UMLS:C4707859", "icd11.foundation:1717111858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017642", "name": "Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:3067"]}
{"category": ["biolink:Disease"], "description": "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.", "id": "MONDO:0017648", "name": "Sydenham chorea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0007716", "MEDGEN:57506", "MedDRA:10042732", "NCIT:C168445", "Orphanet:306731", "UMLS:C0152113", "icd11.foundation:1295812812"]}
{"category": ["biolink:Disease"], "description": "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.", "id": "MONDO:0017649", "name": "Hemidystonia-hemiatrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HD-HA syndrome"], "xref": ["GARD:0021273", "MEDGEN:1386711", "Orphanet:306741", "UMLS:C4510649"]}
{"category": ["biolink:Disease"], "description": "A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia", "id": "MONDO:0017658", "name": "Hyperekplexia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021281", "MEDGEN:488800", "MESH:D000071017", "Orphanet:306773", "UMLS:C0234166"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017659", "name": "Sporadic hyperekplexia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021282", "MEDGEN:1683565", "Orphanet:306776", "UMLS:C5191042"]}
{"category": ["biolink:Disease"], "description": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.", "id": "MONDO:0017666", "name": "Diffuse palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["diffuse PPK", "diffuse keratosis palmoplantaris", "diffuse palmoplantar hyperkeratosis"], "xref": ["GARD:0021289", "HP:0007435", "ICD9:757.39", "MEDGEN:7201", "Orphanet:307141", "SCTID:400123002", "UMLS:C0022584", "icd11.foundation:1259583500"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.", "id": "MONDO:0017668", "name": "Intellectual disability-short stature-hypertelorism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stoll-GC)raudel-Chauvin syndrome"], "xref": ["GARD:0003514", "MEDGEN:1665709", "Orphanet:3074", "UMLS:C4749650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017672", "name": "Focal palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["focal PPK", "focal keratosis palmoplantaris", "focal palmoplantar hyperkeratosis"], "xref": ["GARD:0021294", "MEDGEN:419939", "Orphanet:307837", "UMLS:C2931923", "icd11.foundation:1676945961"]}
{"category": ["biolink:Disease"], "description": "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.", "id": "MONDO:0017675", "name": "Punctate palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["punctate PPK", "punctate keratosis palmoplantaris", "punctate palmoplantar hyperkeratosis"], "xref": ["DOID:0060361", "GARD:0021297", "MEDGEN:870406", "Orphanet:307967", "SCTID:402773000", "UMLS:C4024851", "icd11.foundation:1212361548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017677", "name": "Focal acral hyperkeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPKP3 without elastoidosis", "PPPK3 without elastoidosis", "punctate palmoplantar hyperkeratosis type 3 without elastoidosis", "punctate palmoplantar keratoderma type 3 without elastoidosis"], "xref": ["GARD:0021299", "MEDGEN:724380", "Orphanet:308013", "SCTID:400115004", "UMLS:C1302839"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.", "id": "MONDO:0017682", "name": "Intellectual disability-polydactyly-uncombable hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kozlowski-Krajewska syndrome"], "xref": ["GARD:0003141", "MEDGEN:444082", "MESH:C537615", "Orphanet:3082", "UMLS:C2931547"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017683", "name": "Methylcobalamin deficiency type cbldv1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["functional methionine synthase deficiency type cblDv1"], "xref": ["GARD:0017385", "MEDGEN:1826168", "Orphanet:308380", "UMLS:C5679956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017684", "name": "Disorder of beta and omega amino acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021303", "ICD9:270.8", "MEDGEN:575186", "Orphanet:308407", "SCTID:237940008", "UMLS:C0342707", "icd11.foundation:446569334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017685", "name": "Vitamin b12-responsive methylmalonic acidemia, type cbldv2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["vitamin B12-responsive methylmalonic aciduria, type cblDv2"], "xref": ["GARD:0017391", "MEDGEN:376388", "Orphanet:308442", "UMLS:C1848554"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.", "id": "MONDO:0017686", "name": "Inborn aminoacylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn aminoacylase activity disorder", "inborn error of aminoacylase activity", "rare inborn error of aminoacylase activity"], "xref": ["GARD:0021304", "MEDGEN:1842952", "Orphanet:308448", "UMLS:C5681074"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.", "id": "MONDO:0017687", "name": "Disorder of neutral amino acid transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of neutral amino acid transport", "inborn neutral amino acid transport disorder", "rare inborn error of neutral amino acid transport"], "xref": ["GARD:0021305", "MEDGEN:1863589", "Orphanet:308451", "UMLS:C5848149"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017688", "name": "Disorder of glycolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021306", "MEDGEN:1825948", "Orphanet:308459", "UMLS:C5681073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017689", "name": "Disorder of fructose metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021307", "MEDGEN:575202", "Orphanet:308463", "SCTID:39452003", "UMLS:C0342744", "icd11.foundation:596254627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017690", "name": "Disorder of galactose metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021308", "MEDGEN:575203", "Orphanet:308467", "SCTID:237963003", "UMLS:C0342745", "icd11.foundation:1462194012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017691", "name": "Erythrocyte galactose epimerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["erythrocyte GALE deficiency", "erythrocyte GALE-D", "erythrocyte UDP-galactose-4-epimerase deficiency", "erythrocyte epimerase deficiency galactosemia", "erythrocyte uridine diphosphate galactose-4-epimerase deficiency"], "xref": ["GARD:0017392", "MEDGEN:657805", "Orphanet:308473", "SCTID:297238008", "UMLS:C0574090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017692", "name": "Generalized galactose epimerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["generalised GALE deficiency", "generalised GALE-D", "generalised UDP-galactose-4-epimerase deficiency", "generalised epimerase deficiency galactosemia", "generalised uridine diphosphate galactose-4-epimerase deficiency", "generalized GALE deficiency", "generalized GALE-D", "generalized UDP-galactose-4-epimerase deficiency", "generalized epimerase deficiency galactosemia", "generalized uridine diphosphate galactose-4-epimerase deficiency"], "xref": ["GARD:0017393", "MEDGEN:657804", "Orphanet:308487", "SCTID:297237003", "UMLS:C0574089"]}
{"category": ["biolink:Disease"], "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.", "id": "MONDO:0017694", "name": "Glycogen storage disease due to acid maltase deficiency, infantile onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GSD due to acid maltase deficiency, infantile onset", "GSD type 2, infantile onset", "GSD type II, infantile onset", "Pompe disease, infantile onset", "alpha-1,4-glucosidase acid deficiency, infantile onset", "glycogen storage disease type 2, infantile onset", "glycogen storage disease type II, infantile onset", "glycogenosis due to acid maltase deficiency, infantile onset", "glycogenosis type 2, infantile onset", "glycogenosis type II, infantile onset"], "xref": ["GARD:0021310", "MEDGEN:923868", "NANDO:1200139", "NANDO:2201229", "OMIM:232300", "Orphanet:308552", "SCTID:722302009", "UMLS:C3888924", "icd11.foundation:1496243702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017695", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, progressive hepatic form", "GSD due to glycogen branching enzyme deficiency, progressive hepatic form", "GSD type 4, progressive hepatic form", "GSDIV, progressive hepatic form", "glycogen storage disease type 4, progressive hepatic form", "glycogen storage disease type IV, progressive hepatic form", "glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form", "glycogenosis type 4, progressive hepatic form", "glycogenosis type IV, progressive hepatic form"], "xref": ["GARD:0017394", "MEDGEN:1826169", "NANDO:2201159", "Orphanet:308621", "UMLS:C5679972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017696", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, non progressive hepatic form", "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form", "GSD type 4, non progressive hepatic form", "GSDIV, non progressive hepatic form", "glycogen storage disease type 4, non progressive hepatic form", "glycogen storage disease type IV, non progressive hepatic form", "glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form", "glycogenosis type 4, non progressive hepatic form", "glycogenosis type IV, non progressive hepatic form"], "xref": ["GARD:0017395", "MEDGEN:344701", "NANDO:2201160", "Orphanet:308638", "UMLS:C1856302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017697", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, fatal perinatal neuromuscular form", "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form", "GSD type 4, fatal perinatal neuromuscular form", "GSDIV, fatal perinatal neuromuscular form", "glycogen storage disease type 4, fatal perinatal neuromuscular form", "glycogen storage disease type IV, fatal perinatal neuromuscular form", "glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form", "glycogenosis type 4, fatal perinatal neuromuscular form", "glycogenosis type IV, fatal perinatal neuromuscular form"], "xref": ["GARD:0017396", "MEDGEN:383883", "NANDO:2201161", "Orphanet:308655", "UMLS:C1856303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017698", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, congenital neuromuscular form", "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form", "GSD type 4, congenital neuromuscular form", "GSDIV, congenital neuromuscular form", "glycogen storage disease type 4, congenital neuromuscular form", "glycogen storage disease type IV, congenital neuromuscular form", "glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form", "glycogenosis type 4, congenital neuromuscular form", "glycogenosis type IV, congenital neuromuscular form"], "xref": ["GARD:0017397", "MEDGEN:343523", "Orphanet:308670", "UMLS:C1856304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017699", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, childhood combined hepatic and myopathic form", "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form", "GSD type 4, childhood combined hepatic and myopathic form", "GSDIV, childhood combined hepatic and myopathic form", "glycogen storage disease type 4, childhood combined hepatic and myopathic form", "glycogen storage disease type IV, childhood combined hepatic and myopathic form", "glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form", "glycogenosis type 4, childhood combined hepatic and myopathic form", "glycogenosis type IV, childhood combined hepatic and myopathic form"], "xref": ["GARD:0017398", "MEDGEN:1842442", "MedDRA:10053250", "NANDO:2201162", "Orphanet:308684", "UMLS:C5679969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017700", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, childhood neuromuscular form", "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form", "GSD type 4, childhood neuromuscular form", "GSDIV, childhood neuromuscular form", "glycogen storage disease type 4, childhood neuromuscular form", "glycogen storage disease type IV, childhood neuromuscular form", "glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form", "glycogenosis type 4, childhood neuromuscular form", "glycogenosis type IV, childhood neuromuscular form"], "xref": ["GARD:0017399", "MEDGEN:343524", "Orphanet:308698", "UMLS:C1856305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017701", "name": "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GBE deficiency, adult neuromuscular form", "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form", "GSD type 4, adult neuromuscular form", "GSDIV, adult neuromuscular form", "glycogen storage disease type 4, adult neuromuscular form", "glycogen storage disease type IV, adult neuromuscular form", "glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form", "glycogenosis type 4, adult neuromuscular form", "glycogenosis type IV, adult neuromuscular form"], "xref": ["GARD:0017400", "MEDGEN:343525", "Orphanet:308712", "UMLS:C1856306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017703", "name": "Disorder of glyoxylate metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of glyoxylate metabolism"], "xref": ["GARD:0021312", "MEDGEN:1842247", "Orphanet:308998", "UMLS:C5681070", "icd11.foundation:1800430868"]}
{"category": ["biolink:Disease"], "description": "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017704", "name": "Familial partial epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["familial focal epilepsy", "hereditary partial epilepsy"], "xref": ["GARD:0002173", "MEDGEN:1826100", "Orphanet:309", "UMLS:C5680862"]}
{"category": ["biolink:Disease"], "description": "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.", "id": "MONDO:0017705", "name": "Congenital pulmonary venous return anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital pulmonary venous connection anomaly"], "xref": ["GARD:0004599", "MEDGEN:539577", "Orphanet:3090", "UMLS:C0265916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017706", "name": "Disorder of carbohydrate transmembrane transport and absorption", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of carbohydrate absorption and transport"], "xref": ["GARD:0021313", "MEDGEN:1842168", "Orphanet:309001", "UMLS:C5681069", "icd11.foundation:1315315105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017708", "name": "Mevalonate kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021315", "MEDGEN:87453", "MESH:D054078", "MedDRA:10072221", "NANDO:2200436", "NORD:1260", "Orphanet:309025", "UMLS:C0342731", "icd11.foundation:772056052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017711", "name": "Pancreatic colipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017402", "ICD9:277.89", "MEDGEN:452357", "Orphanet:309108", "SCTID:69478001", "UMLS:C0268241", "icd11.foundation:11281354"]}
{"category": ["biolink:Disease"], "description": "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.", "id": "MONDO:0017712", "name": "Combined pancreatic lipase-colipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017403", "MEDGEN:1631148", "Orphanet:309111", "UMLS:C4706317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017713", "name": "Disorder of fatty acid oxidation and ketogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021317", "MEDGEN:1843280", "Orphanet:309115", "UMLS:C5681071", "icd11.foundation:1861994414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017714", "name": "Acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021318", "MEDGEN:541378", "Orphanet:309120", "SCTID:82319005", "UMLS:C0268635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017715", "name": "3-hydroxyacyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021319", "MEDGEN:266222", "MESH:C535310", "OMIM:231530", "Orphanet:309127", "UMLS:C1291230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017716", "name": "Disorder of carnitine cycle and carnitine transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021320", "MEDGEN:1842227", "NANDO:1200969", "Orphanet:309130", "UMLS:C5681080", "icd11.foundation:890605309"]}
{"category": ["biolink:Disease"], "description": "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.", "id": "MONDO:0017719", "name": "Gangliosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:2368", "GARD:0012510", "MEDGEN:42149", "Orphanet:309144", "SCTID:50967008", "UMLS:C0017083", "icd11.foundation:797306953"]}
{"category": ["biolink:Disease"], "description": "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.", "id": "MONDO:0017720", "name": "Gm2 gangliosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis", "gangliosidosis GM2"], "xref": ["DOID:3321", "GARD:0021323", "ICD10CM:E75.0", "MEDGEN:78656", "MESH:D020143", "NANDO:1200070", "NANDO:2200559", "Orphanet:309152", "SCTID:33316007", "UMLS:C0268274", "icd11.foundation:1513691830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017721", "name": "Sandhoff disease, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hexosaminidases A and B deficiency, infantile form", "infantile GM2 gangliosidosis 0 variant"], "xref": ["GARD:0007604", "MEDGEN:199669", "Orphanet:309155", "SCTID:238018004", "UMLS:C0751490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017722", "name": "Sandhoff disease, juvenile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hexosaminidases A and B deficiency, juvenile form", "juvenile GM2 gangliosidosis 0 variant"], "xref": ["GARD:0017404", "MEDGEN:148320", "Orphanet:309162", "SCTID:238019007", "UMLS:C0751491"]}
{"category": ["biolink:Disease"], "description": "A Sandhoff disease that occurs in an adult.", "id": "MONDO:0017723", "name": "Sandhoff disease, adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Hexosaminidases A and B deficiency, adult form", "Sandhoff disease of adults", "adult GM2 gangliosidosis 0 variant", "adult Sandhoff disease"], "xref": ["GARD:0017405", "MEDGEN:148319", "Orphanet:309169", "SCTID:238020001", "UMLS:C0751489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017724", "name": "Tay-sachs disease, b variant, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis, B variant, infantile form", "hexosaminidase A deficiency, infantile form"], "xref": ["GARD:0021324", "MEDGEN:1863558", "Orphanet:309178", "SCTID:238021002", "UMLS:C5925031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017725", "name": "Tay-sachs disease, b variant, juvenile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis, B variant, juvenile form", "hexosaminidase A deficiency, juvenile form"], "xref": ["GARD:0021325", "MEDGEN:1863740", "Orphanet:309185", "SCTID:238022009", "UMLS:C5925030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017726", "name": "Tay-sachs disease, b variant, adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis, B variant, adult form", "hexosaminidase A deficiency, adult form"], "xref": ["GARD:0021326", "MEDGEN:336450", "Orphanet:309192", "SCTID:238023004", "UMLS:C1848914"]}
{"category": ["biolink:Disease"], "description": "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.", "id": "MONDO:0017727", "name": "Fixed subaortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016619", "MEDGEN:539538", "Orphanet:3092", "UMLS:C0265853", "icd11.foundation:1471062257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017728", "name": "Tay-sachs disease, b1 variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GM2 gangliosidosis, B1 variant", "hexosaminidase A deficiency, B1 variant"], "xref": ["GARD:0021327", "MEDGEN:336452", "Orphanet:309239", "SCTID:238024005", "UMLS:C1848916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017729", "name": "Metachromatic leukodystrophy, late infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MLD, late infantile form", "arylsulfatase A deficiency, late infantile form"], "xref": ["GARD:0021328", "MEDGEN:155529", "NANDO:1200079", "NANDO:2201202", "Orphanet:309256", "SCTID:47683004", "UMLS:C0751278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017730", "name": "Metachromatic leukodystrophy, adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MLD, adult form", "arylsulfatase A deficiency, adult form"], "xref": ["GARD:0021330", "MEDGEN:199625", "NANDO:1200081", "NANDO:2201204", "Orphanet:309271", "SCTID:24326000", "UMLS:C0751279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017731", "name": "Glycoproteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0010670", "MEDGEN:1842769", "Orphanet:309279", "UMLS:C5681075", "icd11.foundation:979972142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017732", "name": "Alpha-mannosidosis, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["lysosomal alpha-D-mannosidase deficiency, infantile form"], "xref": ["GARD:0017407", "MEDGEN:575250", "NANDO:1200127", "NANDO:2201188", "Orphanet:309282", "UMLS:C0342847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017733", "name": "Alpha-mannosidosis, adult form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["lysosomal alpha-D-mannosidase deficiency, adult form"], "xref": ["GARD:0017408", "GTR:AN0103810", "GTR:AN0103811", "MEDGEN:1843432", "NANDO:1200128", "NANDO:2201189", "Orphanet:309288", "SCTID:58112007", "UMLS:C5679974"]}
{"category": ["biolink:Disease"], "description": "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.", "id": "MONDO:0017734", "name": "Sialidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021331", "MEDGEN:120621", "MedDRA:10058800", "NANDO:1200116", "NANDO:2200556", "NORD:1713", "Orphanet:309294", "SCTID:38795005", "UMLS:C0268226", "icd11.foundation:1180347697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017735", "name": "Congenital aortic valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018786", "ICD9:746.3", "MEDGEN:509030", "MedDRA:10010371", "Orphanet:3093", "SCTID:18546004", "UMLS:C0152417", "icd11.foundation:1824398514"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017736", "name": "Disorder of sialic acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021332", "ICD9:277.89", "MEDGEN:575253", "Orphanet:309319", "SCTID:238050009", "UMLS:C0342851", "icd11.foundation:1709765980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017737", "name": "Intermediate severe salla disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010871", "MEDGEN:1843217", "NANDO:1200148", "NANDO:2201238", "Orphanet:309331", "UMLS:C5681076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017738", "name": "Lysosomal glycogen storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021333", "MEDGEN:1842699", "Orphanet:309337", "UMLS:C5681077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017739", "name": "Disorder of lysosomal-related organelles", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021334", "MEDGEN:1826110", "Orphanet:309340", "UMLS:C5681043"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of protein N-linked glycosylation.", "id": "MONDO:0017740", "name": "Disorder of protein n-glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of protein N-linked glycosylation", "protein N-linked glycosylation disease"], "xref": ["GARD:0021335", "MEDGEN:1826111", "Orphanet:309347", "UMLS:C5681044", "icd11.foundation:292641586"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of protein O-linked glycosylation.", "id": "MONDO:0017741", "name": "Disorder of protein o-glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of protein O-linked glycosylation", "protein O-linked glycosylation disease"], "xref": ["GARD:0021336", "MEDGEN:1842631", "Orphanet:309447", "UMLS:C5681041", "icd11.foundation:1883085871"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).", "id": "MONDO:0017746", "name": "Atypical rett syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rett syndrome variant", "atypical RTT"], "xref": ["GARD:0004694", "MEDGEN:440664", "NANDO:1200605", "Orphanet:3095", "SCTID:718393002", "UMLS:C2748910", "icd11.foundation:605088126"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017747", "name": "Disorder of fucoglycosan synthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021341", "MEDGEN:1843205", "Orphanet:309505", "UMLS:C5681046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017748", "name": "Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of glycosphingolipid and GPI-anchored proteins glycosylation"], "xref": ["GARD:0021342", "MEDGEN:1842274", "Orphanet:309515", "UMLS:C5679954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017749", "name": "Disorder of multiple glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021343", "MEDGEN:1843364", "Orphanet:309526", "UMLS:C5681039", "icd11.foundation:684473574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017750", "name": "Defect in conserved oligomeric golgi complex", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["defect in COG complex"], "xref": ["GARD:0021344", "MEDGEN:1843352", "Orphanet:309568", "UMLS:C5679953"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017752", "name": "Defect in v-atpase", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021345", "MEDGEN:1842740", "Orphanet:309778", "UMLS:C5681038"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.", "id": "MONDO:0017754", "name": "Inborn disorder of porphyrin metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn disorder of porphyrin and haem metabolism", "inborn error of porphyrin-containing compound metabolic process", "inborn porphyrin-containing compound metabolic process disorder", "inherited disorder of porphyrin metabolism", "rare inborn error of porphyrin-containing compound metabolic process"], "xref": ["GARD:0021346", "Orphanet:309813", "SCTID:403832004"]}
{"category": ["biolink:Disease"], "description": "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017755", "name": "Inborn disorder of bilirubin metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of bilirubin metabolism and excretion", "hereditary bilirubin metabolism disease", "inborn disorder of bilirubin metabolism and excretion"], "xref": ["GARD:0021347", "MEDGEN:1671515", "Orphanet:309816", "UMLS:C0349427", "icd11.foundation:1297666279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017757", "name": "Disorder of metabolite absorption and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021349", "MEDGEN:1842202", "Orphanet:309824", "UMLS:C5681033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017758", "name": "Disorder of vitamin and non-protein cofactor absorption and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of vitamin and non-protein cofactor absorption and transport"], "xref": ["GARD:0021350", "MEDGEN:1842689", "Orphanet:309827", "UMLS:C5681037", "icd11.foundation:1112006621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017759", "name": "Disorder of catecholamine synthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021351", "ICD9:270.8", "MEDGEN:575179", "Orphanet:309830", "SCTID:237921002", "UMLS:C0342685", "icd11.foundation:1382276026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017761", "name": "Disorder of mineral absorption and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021353", "MEDGEN:1842552", "Orphanet:309836", "UMLS:C5681035", "icd11.foundation:1833416892"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.", "id": "MONDO:0017762", "name": "Disorder of copper metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn cellular copper ion homeostasis disorder", "inborn error of cellular copper ion homeostasis", "rare inborn error of cellular copper ion homeostasis"], "xref": ["GARD:0021354", "ICD9:275.1", "MEDGEN:507647", "MedDRA:10061091", "Orphanet:309839", "SCTID:79886009", "UMLS:C0012714", "icd11.foundation:1926278296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017763", "name": "Disorder of iron metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021355", "MEDGEN:1826109", "Orphanet:309842", "UMLS:C5681031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017764", "name": "Disorder of zinc metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021356", "ICD9:275.8", "MEDGEN:541182", "MedDRA:10048260", "Orphanet:309845", "SCTID:46727001", "UMLS:C0268085"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.", "id": "MONDO:0017765", "name": "Disorder of magnesium transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of magnesium ion transport", "inborn magnesium ion transport disorder", "rare inborn error of magnesium ion transport"], "xref": ["GARD:0021357", "MEDGEN:1842842", "Orphanet:309848", "UMLS:C5681030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017766", "name": "Disorder of manganese transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021358", "MEDGEN:1843191", "Orphanet:309851", "UMLS:C5681032"]}
{"category": ["biolink:Disease"], "description": "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.", "id": "MONDO:0017767", "name": "Rheumatic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARF", "acute rheumatic fever"], "xref": ["DOID:1586", "EFO:1001160", "GARD:0005699", "ICD10CM:I00-I02", "ICD9:390", "ICD9:390-392", "MEDGEN:48448", "MESH:D012213", "MedDRA:10039054", "NCIT:C34984", "NORD:1668", "Orphanet:3099", "SCTID:58718002", "UMLS:C0035436"]}
{"category": ["biolink:Disease"], "description": "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).", "id": "MONDO:0017768", "name": "Reflex epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:2548", "EFO:1001146", "GARD:0018688", "ICD9:345.10", "MEDGEN:75726", "MESH:D020195", "NCIT:C85041", "Orphanet:310", "SCTID:79745005", "UMLS:C0270857", "icd11.foundation:276807111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017769", "name": "Acquired immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021359", "MEDGEN:1843453", "Orphanet:310050", "UMLS:C0596032", "icd11.foundation:609223181"]}
{"category": ["biolink:Disease"], "description": "Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).", "id": "MONDO:0017771", "name": "Mayer-rokitansky-kuster-hauser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRKH", "MRKH syndrome", "Mayer-Rokitansky-Küster-Hauser Syndrome", "Mullerian aplasia/dysgenesis", "Rokitansky Kuster Hauser syndrome", "Rokitansky syndrome"], "xref": ["DOID:0112177", "GARD:0005445", "MEDGEN:140915", "MedDRA:10065148", "NCIT:C124853", "NORD:1412", "Orphanet:3109", "SCTID:8793008", "UMLS:C0431648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017772", "name": "Oral erosive lichen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:31142"]}
{"category": ["biolink:Disease"], "description": "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.", "id": "MONDO:0017773", "name": "Hypoalphalipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018801", "MEDGEN:57731", "MESH:D052456", "MedDRA:10065156", "NANDO:2200605", "NCIT:C84774", "Orphanet:31153", "SCTID:190785000", "UMLS:C0151691", "icd11.foundation:1731667610"]}
{"category": ["biolink:Disease"], "description": "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.", "id": "MONDO:0017774", "name": "Hypobetalipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:1390", "GARD:0018802", "MEDGEN:6978", "MESH:D006995", "Orphanet:31154", "SCTID:190786004", "UMLS:C0020597", "icd11.foundation:1934975006"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.", "id": "MONDO:0017775", "name": "Melioidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Burkholderia pseudomallei caused disease or disorder", "Burkholderia pseudomallei disease or disorder", "Burkholderia pseudomallei infectious disease", "pseudoglanders"], "xref": ["DOID:5052", "GARD:0009546", "ICD9:025", "MEDGEN:44346", "MESH:D008554", "MedDRA:10069748", "NCIT:C128336", "Orphanet:31202", "SCTID:186312003", "UMLS:C0025229", "icd11.foundation:2129350166"]}
{"category": ["biolink:Disease"], "description": "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.", "id": "MONDO:0017776", "name": "Nocardiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nocardia caused disease or disorder", "Nocardia disease or disorder"], "xref": ["DOID:2312", "EFO:0007397", "GARD:0007210", "ICD10CM:A43", "ICD10WHO:A43", "MEDGEN:18067", "MESH:D009617", "MedDRA:10029444", "NCIT:C171147", "NORD:1510", "Orphanet:31204", "SCTID:29227009", "UMLS:C0028242", "icd11.foundation:6555116"]}
{"category": ["biolink:Disease"], "description": "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.", "id": "MONDO:0017778", "name": "Lamellar ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LI", "classic lamellar ichthyosis", "congenital lamellar ichthyosis"], "xref": ["GARD:0010803", "ICD10CM:Q80.2", "MEDGEN:1852191", "MedDRA:10023686", "NANDO:1200617", "NCIT:C84805", "NORD:1289", "Orphanet:313", "UMLS:C5848247", "icd11.foundation:600146417"]}
{"category": ["biolink:Disease"], "description": "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.", "id": "MONDO:0017779", "name": "Alpha-n-acetylgalactosaminidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NAGA deficiency", "Schindler disease", "alpha-N-acetylgalactosaminidase activity disease", "disorder of alpha-N-acetylgalactosaminidase activity"], "xref": ["DOID:0112317", "GARD:0016621", "ICD9:277.89", "MEDGEN:1845666", "NANDO:1200134", "NORD:1693", "Orphanet:3137", "SCTID:238048001", "UMLS:C5848084", "icd11.foundation:1647881428"]}
{"category": ["biolink:Disease"], "description": "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.", "id": "MONDO:0017780", "name": "20p13 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["20p subtelomeric deletion syndrome", "Del(20)(p13)", "monosomy 20p13"], "xref": ["GARD:0021360", "MEDGEN:1655817", "Orphanet:313781", "UMLS:C4750789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017781", "name": "12p12.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Del(12)(p12.1)", "monosomy 12p12.1"], "xref": ["GARD:0017414", "MEDGEN:1652598", "Orphanet:313884", "UMLS:C4755260"]}
{"category": ["biolink:Disease"], "description": "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).", "id": "MONDO:0017782", "name": "Developmental and speech delay due to sox5 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017415", "MEDGEN:1660895", "Orphanet:313892", "UMLS:C4749915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017783", "name": "Congenital pancreatic cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neonatal congenital pancreatic cyst", "true congenital pancreatic cyst"], "xref": ["GARD:0021361", "ICD10CM:Q45.2", "MEDGEN:574418", "Orphanet:313906", "SCTID:204808002", "UMLS:C0341480", "icd11.foundation:981856956"]}
{"category": ["biolink:Disease"], "description": "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.", "id": "MONDO:0017784", "name": "Epstein-barr virus-associated gastric carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EBV-associated gastric carcinoma", "EBVaGC"], "xref": ["GARD:0021362", "MEDGEN:896878", "NCIT:C162304", "Orphanet:313920", "SCTID:716586009", "UMLS:C4274414"]}
{"category": ["biolink:Disease"], "description": "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.", "id": "MONDO:0017785", "name": "Pens syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["papular epidermal nevi with skyline basal cell layers syndrome"], "xref": ["GARD:0013447", "MEDGEN:1654469", "Orphanet:313936", "UMLS:C4749916"]}
{"category": ["biolink:Disease"], "description": "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.", "id": "MONDO:0017786", "name": "2q23.1 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(2)(q23.1)", "trisomy 2q23.1"], "xref": ["GARD:0021363", "MEDGEN:1647644", "Orphanet:313947", "SCTID:766816008", "UMLS:C4707847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017787", "name": "Erythroderma desquamativum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leiner disease"], "xref": ["GARD:0006878", "HGNC:1331", "MEDGEN:1790529", "MESH:C535512", "Orphanet:314", "UMLS:C5551904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017788", "name": "Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dinno syndrome"], "xref": ["GARD:0021364", "MEDGEN:1661787", "Orphanet:314002", "UMLS:C4751075"]}
{"category": ["biolink:Disease"], "description": "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.", "id": "MONDO:0017789", "name": "Idiopathic linear interstitial keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021365", "MEDGEN:1653609", "Orphanet:314017", "UMLS:C4751438"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by specific pathogenic variants in the APC gene promoter, characterized by proximal gastric polyposis and an increased risk of gastric adenocarcinoma.", "id": "MONDO:0017790", "name": "Gastric adenocarcinoma and proximal polyposis of the stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APC-related gastric adenocarcinoma and proximal polyposis of the stomach", "GAPPS", "familial fundic gland polyposis with gastric cancer", "fundic gland polyposis", "polyposis of gastric fundus without polyposis coli", "polyposis, gastric", "polyposis, gastric, Dos Santos and de Magalhaes 1980"], "xref": ["GARD:0017416", "MEDGEN:1657285", "MESH:C566775", "NCIT:C172989", "OMIM:175505", "OMIM:619182", "Orphanet:314022", "UMLS:C4749917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017791", "name": "High bone mass osteogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["high bone mass OI"], "xref": ["GARD:0021366", "MEDGEN:1672817", "Orphanet:314029", "UMLS:C5190607"]}
{"category": ["biolink:Disease"], "description": "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.", "id": "MONDO:0017792", "name": "7p22.1 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(7)(p22.1)", "trisomy 7p22.1"], "xref": ["GARD:0021367", "MEDGEN:1641886", "Orphanet:314034", "SCTID:764703002", "UMLS:C4707093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017793", "name": "Marfanoid habitus-inguinal hernia-advanced bone age syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021368", "MEDGEN:1684094", "Orphanet:314041", "UMLS:C5190606"]}
{"category": ["biolink:Disease"], "description": "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.", "id": "MONDO:0017794", "name": "Xq12-q13.3 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(X)(q12-q13.3)"], "xref": ["GARD:0021369", "MEDGEN:1648034", "Orphanet:314389", "SCTID:764711007", "UMLS:C4707094"]}
{"category": ["biolink:Disease"], "description": "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.", "id": "MONDO:0017795", "name": "Ameloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ameloblastoma", "ameloblastoma of jaw"], "xref": ["DOID:0050894", "GARD:0005747", "ICDO:9310/0", "MEDGEN:1457", "MESH:D000564", "MedDRA:10066796", "NCIT:C4313", "NORD:764", "Orphanet:314419", "SCTID:285311001", "UMLS:C0002448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017798", "name": "Spigelian hernia-cryptorchidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021371", "MEDGEN:1662076", "Orphanet:314432", "UMLS:C4751074"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.", "id": "MONDO:0017799", "name": "Meigs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Demons-Meigs syndrome", "Meigs' syndrome"], "xref": ["GARD:0021372", "ICD9:629.89", "MEDGEN:6287", "MESH:D008539", "MedDRA:10027139", "NCIT:C3223", "Orphanet:314451", "SCTID:63402005", "UMLS:C0025184", "icd11.foundation:1050919535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017800", "name": "Pseudo-meigs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pseudo-Demons-Meigs syndrome"], "xref": ["GARD:0021373", "MEDGEN:1678402", "Orphanet:314459", "UMLS:C5190824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017801", "name": "Atypical meigs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["atypical Demons-Meigs syndrome", "incomplete Meigs syndrome"], "xref": ["GARD:0021374", "MEDGEN:1676202", "Orphanet:314466", "UMLS:C5190605"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).", "id": "MONDO:0017802", "name": "Ovarian fibrothecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021376", "MEDGEN:1635957", "Orphanet:314478", "SCTID:765190005", "UMLS:C4707356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017803", "name": "Primary progressive apraxia of speech", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPAOS"], "xref": ["GARD:0021377", "MEDGEN:1876485", "Orphanet:314566", "UMLS:C5979991"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.", "id": "MONDO:0017804", "name": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021378", "MEDGEN:1654941", "Orphanet:314572", "UMLS:C4749919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017805", "name": "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021379", "MEDGEN:1655593", "Orphanet:314575", "UMLS:C4751073"]}
{"category": ["biolink:Disease"], "description": "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.", "id": "MONDO:0017806", "name": "15q overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["15q26 overgrowth syndrome"], "xref": ["DECIPHER:81", "GARD:0017423", "MEDGEN:1661769", "Orphanet:314585", "UMLS:C4749920"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.", "id": "MONDO:0017807", "name": "Growing teratoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GTS"], "xref": ["GARD:0021380", "MEDGEN:856083", "NCIT:C118370", "Orphanet:314613", "UMLS:C3891714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017808", "name": "Duplication of the pituitary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DPG-plus syndrome", "Duplication of the pituitary gland-plus syndrome", "hypophyseal duplication"], "xref": ["GARD:0021381", "MEDGEN:1663161", "Orphanet:314621", "UMLS:C4755258"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017809", "name": "Parkinsonism due to atp13a2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLN12 disease"], "xref": ["GARD:0017427", "MEDGEN:1687881", "Orphanet:314632", "SCTID:789657008", "UMLS:C5230619"]}
{"category": ["biolink:Disease"], "description": "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.", "id": "MONDO:0017810", "name": "Variant abeta2m amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant beta2-microglobulinic amyloidosis"], "xref": ["DOID:0080929", "GARD:0021382", "MEDGEN:928338", "Orphanet:314652", "SCTID:722292000", "UMLS:C4302669", "icd11.foundation:1466418791"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.", "id": "MONDO:0017811", "name": "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["5q31.3 microdeletion syndrome", "Del(5)(q31.3)", "monosomy 5q31.3"], "xref": ["GARD:0021383", "MEDGEN:1636705", "Orphanet:314655", "SCTID:768555009", "UMLS:C4708510"]}
{"category": ["biolink:Disease"], "description": "A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.", "id": "MONDO:0017812", "name": "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021384", "MEDGEN:1673986", "Orphanet:314662", "UMLS:C5192432"]}
{"category": ["biolink:Disease"], "description": "A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.", "id": "MONDO:0017813", "name": "Van maldergem syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Van Maldergem syndrome"], "xref": ["DOID:0060238", "GARD:0005456", "MEDGEN:318616", "OMIMPS:601390", "Orphanet:314679", "UMLS:C1832390"]}
{"category": ["biolink:Disease"], "description": "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.", "id": "MONDO:0017814", "name": "Primary bone lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bone tissue lymphoma", "lymphoma of bone tissue", "primary lymphoma of bone", "primary lymphoma of the bone"], "xref": ["DOID:6759", "GARD:0021385", "MEDGEN:231451", "NCIT:C6620", "Orphanet:314684", "SCTID:766935007", "UMLS:C1332582"]}
{"category": ["biolink:Disease"], "description": "An instance of porencephaly that is acquired during the lifetime of the individual.", "id": "MONDO:0017815", "name": "Acquired porencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["acquired porencephaly"], "xref": ["GARD:0021386", "MEDGEN:508833", "Orphanet:314697", "SCTID:38837006", "UMLS:C0151860"]}
{"category": ["biolink:Disease"], "description": "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.", "id": "MONDO:0017816", "name": "Primary systemic amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["systemic AL amyloidosis", "systemic Immunoglobulin Light chain amyloidosis", "systemic amyloidosis"], "xref": ["GARD:0017431", "MEDGEN:129028", "NANDO:1200209", "NCIT:C8299", "Orphanet:314701", "SCTID:89449005", "UMLS:C0281479"]}
{"category": ["biolink:Disease"], "description": "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.", "id": "MONDO:0017817", "name": "Primary localized amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["localised AL amyloidosis", "localized AL amyloidosis"], "xref": ["GARD:0021387", "MEDGEN:107462", "Orphanet:314709", "UMLS:C0544840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017818", "name": "Lethal arteriopathy syndrome due to fibulin-4 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017432", "MEDGEN:1673111", "Orphanet:314718", "UMLS:C5190604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017819", "name": "Atypical dentin dysplasia due to smoc2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dentin dysplasia type 1 with microdontia and shape anomalies", "dentin dysplasia, type IA"], "xref": ["GARD:0017433", "MEDGEN:1673452", "OMIM:125400", "Orphanet:314721", "UMLS:C5190802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017822", "name": "Mixed functioning pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["mixed secreting pituitary adenoma"], "xref": ["GARD:0021390", "MEDGEN:577354", "Orphanet:314759", "SCTID:254961003", "UMLS:C0346305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017823", "name": "Somatomammotropinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GH and PRL cosecreting pituitary adenoma", "Growth hormone and prolactin cosecreting pituitary adenoma", "Somatolactotropinoma", "Somatoprolactinoma"], "xref": ["GARD:0021391", "MEDGEN:1649254", "NCIT:C45928", "Orphanet:314769", "UMLS:C4755297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017824", "name": "Familial isolated pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FIPA"], "xref": ["GARD:0010959", "MEDGEN:436629", "OMIMPS:102200", "Orphanet:314777", "SCTID:702375004", "UMLS:C2676191"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017825", "name": "Silent pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021392", "MEDGEN:90850", "Orphanet:314786", "UMLS:C0338078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017826", "name": "Null pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021393", "MEDGEN:1813085", "NCIT:C45924", "Orphanet:314790", "UMLS:C5680967"]}
{"category": ["biolink:Disease"], "description": "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.", "id": "MONDO:0017827", "name": "Malignant peripheral nerve sheath tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPNST", "Malig. periph. nerve sheath tum.", "malignant neoplasm of peripheral nerve sheath", "malignant neurilemmoma", "malignant neurilemoma", "malignant neurofibroma", "malignant peripheral nerve sheath neoplasm", "malignant peripheral nerve sheath tumor", "malignant peripheral nerve sheath tumor (morphologic abnormality)", "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)", "malignant peripheral nerve sheath tumour (morphologic abnormality)", "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)", "malignant schwannoma", "malignant tumor of peripheral nerve sheath", "malignant tumor of the peripheral nerve sheath", "malignant tumour of peripheral nerve sheath", "malignant tumour of the peripheral nerve sheath", "neurofibrosarcoma, malignant", "neurogenic sarcoma", "schwannoma, malignant"], "xref": ["DOID:5940", "EFO:0000760", "GARD:0010872", "ICD9:171.9", "ICDO:9540/3", "ICDO:9560/3", "MEDGEN:155614", "MedDRA:10029236", "NANDO:2200102", "NCIT:C3798", "ONCOTREE:MPNST", "Orphanet:3148", "SCTID:404037002", "UMLS:C0751690", "icd11.foundation:71413945"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.", "id": "MONDO:0017829", "name": "Autosomal dominant proximal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["AD pRTA", "proximal renal tubular acidosis, autosomal dominant"], "xref": ["GARD:0021394", "MEDGEN:1842780", "Orphanet:314889", "UMLS:C5679902"]}
{"category": ["biolink:Disease"], "description": "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.", "id": "MONDO:0017830", "name": "Severe canavan disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["infantile Canavan disease", "neonatal Canavan disease"], "xref": ["GARD:0017437", "MEDGEN:1826002", "Orphanet:314911", "UMLS:C5575558"]}
{"category": ["biolink:Disease"], "description": "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.", "id": "MONDO:0017831", "name": "Mild canavan disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["juvenile Canavan disease"], "xref": ["GARD:0017438", "MEDGEN:865564", "Orphanet:314918", "UMLS:C4017127"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Mycobacterium xenopi.", "id": "MONDO:0017832", "name": "Mycobacterium xenopi infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Mycobacterium xenopi caused disease or disorder", "Mycobacterium xenopi disease or disorder", "Mycobacterium xenopi infectious disease"], "xref": ["GARD:0010550", "MEDGEN:546776", "Orphanet:314946", "UMLS:C0275715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017833", "name": "Primary hypereosinophilic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HES-M", "HES-N", "clonal hypereosinophilic syndrome", "neoplastic hypereosinophilic syndrome", "primary HES"], "xref": ["GARD:0021395", "MEDGEN:1830089", "Orphanet:314950", "UMLS:C5679898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017834", "name": "Secondary hypereosinophilic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HES-R", "reactive hypereosinophilic syndrome", "secondary HES"], "xref": ["GARD:0021396", "MEDGEN:1814441", "Orphanet:314962", "UMLS:C5679897"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017835", "name": "Lymphocytic hypereosinophilic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HES-L", "lymphocytic variant HES", "lymphoid HES"], "xref": ["GARD:0021397", "MEDGEN:1714468", "Orphanet:314970", "UMLS:C5396402", "icd11.foundation:367714724"]}
{"category": ["biolink:Disease"], "description": "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.", "id": "MONDO:0017836", "name": "Erythrokeratoderma en cocardes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Degos genodermatosis", "Degos genodermatosis \"en cocardes\""], "xref": ["GARD:0001722", "ICD9:447.8", "MEDGEN:1845700", "Orphanet:315", "SCTID:239062001", "UMLS:C5848050"]}
{"category": ["biolink:Disease"], "description": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.", "id": "MONDO:0017837", "name": "Multiple sclerosis-ichthyosis-factor viii deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018787", "MEDGEN:1391655", "Orphanet:3151", "UMLS:C4518551"]}
{"category": ["biolink:Disease"], "description": "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.", "id": "MONDO:0017838", "name": "Sclerosteosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cortical hyperostosis with syndactyly", "cortical hyperostosis-syndactyly syndrome"], "xref": ["DOID:0060251", "GARD:0004771", "ICD9:756.59", "MEDGEN:120530", "MESH:C537525", "NANDO:2201369", "NCIT:C131133", "OMIMPS:269500", "Orphanet:3152", "SCTID:17568006", "UMLS:C0265301", "icd11.foundation:371637416"]}
{"category": ["biolink:Disease"], "description": "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.", "id": "MONDO:0017839", "name": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic 21-OHD CAH, salt wasting form"], "xref": ["GARD:0021398", "MEDGEN:1826062", "Orphanet:315306", "UMLS:C5679896"]}
{"category": ["biolink:Disease"], "description": "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.", "id": "MONDO:0017840", "name": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic 21-OHD CAH, simple virilizing form"], "xref": ["GARD:0021399", "MEDGEN:1826061", "Orphanet:315311", "UMLS:C5679895"]}
{"category": ["biolink:Disease"], "description": "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.", "id": "MONDO:0017842", "name": "Senior-loken syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLSN", "nephronophthisis with retinal dystrophy", "renal dysplasia-retinal aplasia syndrome"], "xref": ["DOID:0050576", "GARD:0000322", "MEDGEN:96045", "MESH:C537580", "NANDO:1201049", "NCIT:C168588", "OMIMPS:266900", "Orphanet:3156", "UMLS:C0403553", "icd11.foundation:1975732692"]}
{"category": ["biolink:Disease"], "description": "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.", "id": "MONDO:0017843", "name": "Congenital pulmonary sequestration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bronchopulmonary sequestration", "congenital bronchopulmonary sequestration", "congenital sequestration of lung", "pulmonary sequestration", "sequestered lobe (pulmonary sequestration)"], "xref": ["GARD:0004593", "MEDGEN:892881", "MESH:D001998", "NCIT:C97124", "Orphanet:3161", "SCTID:18620009", "UMLS:C4020703", "icd11.foundation:1833083626"]}
{"category": ["biolink:Disease"], "description": "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).", "id": "MONDO:0017844", "name": "Sezary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CTCL / Sezary syndrome", "SC)zary syndrome", "Sezary disease", "Sezary lymphoma", "Sezary syndrome", "Sezary's disease", "Sézary lymphoma", "Sézary syndrome", "cutaneous T-cell lymphoma/Sezary syndrome"], "xref": ["DOID:8541", "EFO:1000785", "GARD:0007629", "ICD9:202.2", "ICDO:9701/3", "MEDGEN:19959", "MESH:D012751", "MedDRA:10040493", "MedDRA:10040500", "NCIT:C3366", "NORD:1707", "ONCOTREE:SS", "Orphanet:3162", "SCTID:118611004", "UMLS:C0036920", "icd11.foundation:1358020385"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017845", "name": "Spastic ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["SPAX"], "xref": ["DOID:0050952", "GARD:0021401", "MEDGEN:376528", "MESH:C564815", "OMIMPS:108600", "Orphanet:316226", "UMLS:C1849156"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of spastic ataxia.", "id": "MONDO:0017846", "name": "Autosomal dominant spastic ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AD-SPAX", "spastic ataxia, autosomal dominant"], "xref": ["GARD:0021402", "MEDGEN:1842682", "Orphanet:316235", "UMLS:C5679899", "icd11.foundation:1327229348"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of spastic ataxia.", "id": "MONDO:0017847", "name": "Autosomal recessive spastic ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AR-SPAX", "spastic ataxia, autosomal recessive"], "xref": ["GARD:0021403", "MEDGEN:1826141", "Orphanet:316240", "UMLS:C5679900"]}
{"category": ["biolink:Disease"], "description": "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.", "id": "MONDO:0017849", "name": "Siegler-brewer-carey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004867", "MEDGEN:419088", "MESH:C537335", "Orphanet:3167", "SCTID:721076000", "UMLS:C2931473"]}
{"category": ["biolink:Disease"], "description": "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.", "id": "MONDO:0017850", "name": "Sirenomelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["symmelia"], "xref": ["GARD:0007652", "MEDGEN:52357", "MedDRA:10049216", "NCIT:C118455", "NORD:1720", "Orphanet:3169", "SCTID:67254002", "UMLS:C0037205", "icd11.foundation:473306797"]}
{"category": ["biolink:Disease"], "description": "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.", "id": "MONDO:0017851", "name": "Erythrokeratodermia variabilis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Darier-Gottron disease", "EKV", "Ichthyosis, Erythrokeratodermia Variabilis", "erythrokeratodermia progressiva symmetrica", "erythrokeratodermia variabilis", "erythrokeratodermia variabilis, Mendes da Costa type", "progressive symmetric erythrokeratodermia", "progressive symmetric erythrokeratodermia, Gottron type"], "xref": ["DOID:0050467", "GARD:0016528", "MEDGEN:75587", "MESH:C536154", "MESH:D056266", "MedDRA:10049048", "NCIT:C84696", "NORD:1285", "OMIMPS:133200", "Orphanet:308166", "Orphanet:316", "Orphanet:317", "SCTID:70041004", "UMLS:C0265961", "icd11.foundation:551200965"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.", "id": "MONDO:0017852", "name": "Infantile spasms-broad thumbs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tsao-Ellingson syndrome"], "xref": ["GARD:0003002", "MEDGEN:1667345", "Orphanet:3173", "UMLS:C4749287"]}
{"category": ["biolink:Disease"], "description": "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.", "id": "MONDO:0017853", "name": "Hypersensitivity pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HP", "allergic form of pneumonitis", "allergic pneumonitis", "exogen allergic alveolitis", "extrinsic allergic alveolitis", "hypersensitivity pneumonitis"], "xref": ["DOID:841", "GARD:0000012", "ICD9:495", "ICD9:495.8", "ICD9:495.9", "MEDGEN:1446", "MESH:D000542", "MedDRA:10001890", "NCIT:C34369", "NORD:761", "Orphanet:31740", "SCTID:37471005", "UMLS:C0002390"]}
{"category": ["biolink:Disease"], "description": "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.", "id": "MONDO:0017855", "name": "T-b- severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["T-B- SCID"], "xref": ["GARD:0021406", "MEDGEN:1842252", "Orphanet:317419", "UMLS:C5679893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017856", "name": "X-linked spasticity-intellectual disability-epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016622", "MEDGEN:1376165", "Orphanet:3175", "UMLS:C4510949"]}
{"category": ["biolink:Disease"], "description": "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.", "id": "MONDO:0017857", "name": "Spina bifida-hypospadias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004940", "MEDGEN:1638294", "Orphanet:3176", "UMLS:C4706660"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)", "id": "MONDO:0017858", "name": "Acute erythroid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AEL", "AML M6", "FAB M6", "M6 acute myeloid leukaemia", "M6 acute myeloid leukemia", "acute erythroblastic leukaemia", "acute erythroblastic leukemia", "acute erythroid leukemia", "acute myeloid leukaemia M6", "acute myeloid leukemia M6", "erythroblastic leukaemia", "erythroblastic leukemia", "leukemia, erythroid, malignant"], "xref": ["DOID:0080780", "EFO:0000218", "GARD:0009620", "ICD10CM:C94.0", "ICD9:205.80", "ICD9:207.00", "ICDO:9840/3", "MEDGEN:7316", "MESH:D004915", "NANDO:2200010", "NCIT:C8923", "Orphanet:318", "SCTID:93451002", "UMLS:C0023440", "icd11.foundation:538743484", "icd11.foundation:631263622"]}
{"category": ["biolink:Disease"], "description": "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.", "id": "MONDO:0017859", "name": "Colchicine poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["ICD9:974.7", "Orphanet:31824", "SCTID:24354007", "icd11.foundation:1617857912"]}
{"category": ["biolink:Disease"], "description": "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).", "id": "MONDO:0017860", "name": "Methanol poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018804", "Orphanet:31825"]}
{"category": ["biolink:Disease"], "description": "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.", "id": "MONDO:0017861", "name": "Ethylene glycol poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018805", "ICD9:982.8", "Orphanet:31826", "SCTID:426692001"]}
{"category": ["biolink:Disease"], "description": "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.", "id": "MONDO:0017862", "name": "Paraquat poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018806", "Orphanet:31827"]}
{"category": ["biolink:Disease"], "description": "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.", "id": "MONDO:0017863", "name": "Digitalis poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:31828", "SCTID:12876009"]}
{"category": ["biolink:Disease"], "description": "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.", "id": "MONDO:0017864", "name": "Congenital pulmonary veins atresia or stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0004598", "MEDGEN:1826176", "NANDO:1200964", "NANDO:2200273", "Orphanet:3188", "SCTID:234062003", "UMLS:C5680865", "icd11.foundation:469101490"]}
{"category": ["biolink:Disease"], "description": "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).", "id": "MONDO:0017865", "name": "Congenital pulmonary valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016623", "ICD10CM:Q22.1", "MEDGEN:511533", "MedDRA:10037451", "Orphanet:3189", "UMLS:C0162164", "icd11.foundation:353180069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017866", "name": "Subpulmonary stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0005051", "MEDGEN:757434", "Orphanet:3190", "SCTID:448476001", "UMLS:C3165028", "icd11.foundation:1393194578"]}
{"category": ["biolink:Disease"], "description": "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.", "id": "MONDO:0017867", "name": "Distal 17p13.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal del(17)(p13.1)"], "xref": ["GARD:0010996", "MEDGEN:1657963", "Orphanet:319171", "UMLS:C4749349"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.", "id": "MONDO:0017868", "name": "Diencephalic-mesencephalic junction dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["diencephalic-mesencephalic junction dysplasia syndrome"], "xref": ["GARD:0021407", "MEDGEN:1641855", "OMIMPS:251280", "Orphanet:319192", "UMLS:C4707858"]}
{"category": ["biolink:Disease"], "description": "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.", "id": "MONDO:0017869", "name": "Chondroectodermal dysplasia with night blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021408", "MEDGEN:1641815", "Orphanet:319195", "UMLS:C4706300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017870", "name": "Supravalvular pulmonary stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0004594", "MEDGEN:481842", "NANDO:2200278", "Orphanet:3192", "UMLS:C3280212"]}
{"category": ["biolink:Disease"], "description": "A serious adrenal gland disorder characterized by acute bleeding into both adrenal glands. It is associated with illnesses such as severe sepsis, congestive heart failure, autoimmune etiologies such as antiphospholipid syndrome, the use of anticoagulants; especially in the setting of heparin-induced thrombocytopenia, as well as severe physical stress such as trauma and surgery.", "id": "MONDO:0017871", "name": "Bilateral massive adrenal hemorrhage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BMAH", "bilateral adrenal haemorrhage", "bilateral adrenal hemorrhage"], "xref": ["GARD:0021409", "MEDGEN:1843030", "Orphanet:319205", "UMLS:C5679892"]}
{"category": ["biolink:Disease"], "description": "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.", "id": "MONDO:0017872", "name": "Lujo hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Zambian hemorrhagic fever"], "xref": ["DOID:0050202", "GARD:0021410", "MEDGEN:905662", "Orphanet:319213", "SCTID:716585008", "UMLS:C4274433"]}
{"category": ["biolink:Disease"], "description": "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.", "id": "MONDO:0017874", "name": "Argentine hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Argentinian hemorrhagic fever", "Junin hemorrhagic fever"], "xref": ["DOID:0050194", "GARD:0021411", "ICD10CM:A96.0", "MEDGEN:9211", "Orphanet:319223", "SCTID:58868000", "UMLS:C0019097", "icd11.foundation:257166193"]}
{"category": ["biolink:Disease"], "description": "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.", "id": "MONDO:0017875", "name": "Bolivian hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Machupo hemorrhagic fever"], "xref": ["DOID:0050195", "GARD:0021412", "ICD10CM:A96.1", "MEDGEN:76386", "MedDRA:10005932", "Orphanet:319229", "SCTID:67247008", "UMLS:C0282192", "icd11.foundation:1780467429"]}
{"category": ["biolink:Disease"], "description": "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.", "id": "MONDO:0017876", "name": "Venezuelan hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Guanarito hemorrhagic fever"], "xref": ["DOID:0050196", "GARD:0021413", "MEDGEN:508283", "Orphanet:319234", "SCTID:359673001", "UMLS:C0042470", "icd11.foundation:356743940"]}
{"category": ["biolink:Disease"], "description": "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.", "id": "MONDO:0017877", "name": "Brazilian hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Sabia hemorrhagic fever"], "xref": ["DOID:0050197", "GARD:0021414", "MEDGEN:575736", "Orphanet:319239", "SCTID:240524001", "UMLS:C0343633"]}
{"category": ["biolink:Disease"], "description": "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.", "id": "MONDO:0017878", "name": "Chapare hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0050198", "GARD:0021415", "MEDGEN:900792", "Orphanet:319244", "SCTID:716584007", "UMLS:C4274434"]}
{"category": ["biolink:Disease"], "description": "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.", "id": "MONDO:0017879", "name": "Hantavirus pulmonary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:14472", "EFO:0007296", "GARD:0000069", "ICD9:480.8", "MEDGEN:66205", "MESH:D018804", "MedDRA:10019143", "NCIT:C84747", "NORD:1216", "Orphanet:319247", "SCTID:120639003", "UMLS:C0243025", "icd11.foundation:582624609"]}
{"category": ["biolink:Disease"], "description": "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.", "id": "MONDO:0017880", "name": "Rift valley fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RVF"], "xref": ["DOID:1328", "GARD:0021416", "ICD10CM:A92.4", "MEDGEN:20589", "MESH:D012295", "MedDRA:10039143", "NCIT:C128419", "Orphanet:319251", "SCTID:402917003", "UMLS:C0035613", "icd11.foundation:854137188"]}
{"category": ["biolink:Disease"], "description": "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.", "id": "MONDO:0017881", "name": "Kyasanur forest disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kyasanur forest disease virus caused disease or disorder", "Kyasanur forest disease virus disease or disorder", "Kyasanur forest disease virus infectious disease", "Kyasanur hemorrhagic fever"], "xref": ["DOID:11320", "GARD:0008257", "ICD10CM:A98.2", "ICD9:065.2", "MEDGEN:5982", "MESH:D007733", "MedDRA:10023505", "Orphanet:319254", "SCTID:23097003", "UMLS:C0022810", "icd11.foundation:1288604967"]}
{"category": ["biolink:Disease"], "description": "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.", "id": "MONDO:0017882", "name": "Omsk hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:992", "GARD:0008254", "ICD10CM:A98.1", "ICD9:065.1", "MEDGEN:9212", "MESH:D006481", "MedDRA:10030310", "Orphanet:319266", "SCTID:48113006", "UMLS:C0019103", "icd11.foundation:946068954"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.", "id": "MONDO:0017884", "name": "Papillary renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPRCC", "chromophil carcinoma of kidney", "chromophil carcinoma of the kidney", "chromophil renal cell carcinoma", "papillary (chromophil) renal cell carcinoma", "papillary renal cell adenocarcinoma", "papillary renal cell cancer", "papillary renal cell carcinoma", "renal cell carcinoma, papillary, type 1"], "xref": ["DOID:4465", "EFO:0000640", "GARD:0009572", "MEDGEN:266300", "NCIT:C6975", "ONCOTREE:PRCC", "Orphanet:319298", "SCTID:733608000", "UMLS:C1306837"]}
{"category": ["biolink:Disease"], "description": "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.", "id": "MONDO:0017885", "name": "Chromophobe renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chromophobe adenocarcinoma", "chromophobe carcinoma", "chromophobe carcinoma of kidney", "chromophobe carcinoma of the kidney", "chromophobe cell carcinoma of kidney", "chromophobe cell carcinoma of the kidney", "chromophobe renal cell adenocarcinoma", "chromophobe renal cell cancer", "chromophobe renal cell carcinoma", "renal cell carcinoma, chromophobe type"], "xref": ["DOID:4471", "EFO:0000335", "GARD:0006064", "ICDO:8270/3", "ICDO:8317/3", "MEDGEN:266091", "NCIT:C4146", "ONCOTREE:CHRCC", "Orphanet:319303", "SCTID:733471003", "UMLS:C1266042"]}
{"category": ["biolink:Disease"], "description": "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.", "id": "MONDO:0017886", "name": "Mit family translocation renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["carcinoma associated with MITF/TFE translocation", "translocation renal cell carcinoma"], "xref": ["DOID:0081413", "GARD:0017446", "MEDGEN:1376834", "NCIT:C154494", "Orphanet:319308", "SCTID:764694005", "UMLS:C4518356"]}
{"category": ["biolink:Disease"], "description": "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.", "id": "MONDO:0017887", "name": "Renal cell carcinoma associated with neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_histopathological_subtype", "mondo:rare"], "synonym": ["renal cell cancer associated with neuroblastoma", "renal cell carcinoma after neuroblastoma", "renal cell carcinoma associated with neuroblastoma"], "xref": ["GARD:0025123", "MEDGEN:473928", "NCIT:C100051", "Orphanet:319314", "UMLS:C3272295"]}
{"category": ["biolink:Disease"], "description": "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.", "id": "MONDO:0017890", "name": "Tubulocystic renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Tubulocystic renal cell cancer"], "xref": ["GARD:0021419", "MEDGEN:925623", "NCIT:C126303", "Orphanet:319325", "SCTID:733603009", "UMLS:C4288091"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.", "id": "MONDO:0017892", "name": "Autosomal recessive myogenic arthrogryposis multiplex congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SYNE1-related AMC", "SYNE1-related arthrogryposis multiplex congenita", "autosomal recessive myogenic AMC"], "xref": ["GARD:0017447", "MEDGEN:1647450", "Orphanet:319332", "SCTID:764812008", "UMLS:C4707155"]}
{"category": ["biolink:Disease"], "description": "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017893", "name": "Inherited acute myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pure familial AML", "Pure familial acute myeloid leukaemia", "Pure familial acute myeloid leukemia", "familial AML", "hereditary acute myeloid leukaemia", "hereditary acute myeloid leukemia", "inherited AML"], "xref": ["GARD:0017450", "MEDGEN:1634915", "NCIT:C7175", "Orphanet:319465", "SCTID:764940002", "UMLS:C4707228"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).", "id": "MONDO:0017894", "name": "Acute myeloid leukemia with cebpa somatic mutations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML with CEBPA somatic mutations", "AML with mutated CEBPA", "acute myeloid Leukaemia with mutated CEBPA", "acute myeloid Leukaemia with non-germline mutated CEBPA", "acute myeloid Leukemia with mutated CEBPA", "acute myeloid Leukemia with non-germline mutated CEBPA", "non-familial acute myeloid leukaemia with mutated CEBPA", "non-familial acute myeloid leukemia with mutated CEBPA"], "xref": ["DOID:0081095", "GARD:0017451", "MEDGEN:1640289", "NCIT:C82433", "Orphanet:319480", "SCTID:764855007", "UMLS:C4707178"]}
{"category": ["biolink:Disease"], "description": "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.", "id": "MONDO:0017895", "name": "Familial papillary or follicular thyroid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FNMTC", "familial nonmedullary thyroid gland carcinoma", "familial pure nonmedullary thyroid carcinoma"], "xref": ["GARD:0008488", "MEDGEN:1681657", "NCIT:C118829", "Orphanet:319487", "UMLS:C5191836"]}
{"category": ["biolink:Disease"], "description": "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.", "id": "MONDO:0017896", "name": "Familial nonmedullary thyroid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["thyroid cancer, nonmedullary"], "xref": ["GARD:0021421", "MEDGEN:502247", "OMIMPS:188550", "Orphanet:319494", "UMLS:C3501843"]}
{"category": ["biolink:Disease"], "description": "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.", "id": "MONDO:0017904", "name": "Steroid dehydrogenase deficiency-dental anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lyngstadaas syndrome"], "xref": ["GARD:0005015", "MEDGEN:419431", "MESH:C537490", "Orphanet:3196", "SCTID:723583009", "UMLS:C2931508"]}
{"category": ["biolink:Disease"], "description": "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.", "id": "MONDO:0017906", "name": "Amyloidosis cutis dyschromia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["amyloidosis cutis dyschromica"], "xref": ["DOID:0080932", "GARD:0017466", "MEDGEN:1641859", "Orphanet:319635", "UMLS:C4554601"]}
{"category": ["biolink:Disease"], "description": "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.", "id": "MONDO:0017907", "name": "Primary lymphoma of the conjunctiva", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["conjunctiva lymphoma", "conjunctiva primary organ-specific lymphoma", "lymphoma of conjunctiva", "primary lymphoid conjunctival tumor", "primary lymphoid conjunctival tumour", "primary organ-specific lymphoma of conjunctiva"], "xref": ["GARD:0021426", "MEDGEN:1635420", "NCIT:C175432", "Orphanet:319667", "SCTID:763477007", "UMLS:C4706485"]}
{"category": ["biolink:Disease"], "description": "Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.", "id": "MONDO:0017909", "name": "Inherited glutathione synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["5-oxoprolinuria", "GSSD", "glutathione synthetase deficiency", "inborn error of glutathione synthase activity", "inborn glutathione synthase activity disorder", "inherited glutathione synthetase deficiency", "pyroglutamic aciduria", "pyroglutamicaciduria", "rare inborn error of glutathione synthase activity"], "xref": ["DOID:0080699", "GARD:0010047", "MEDGEN:1876682", "MESH:C536835", "NCIT:C128193", "Orphanet:32", "SCTID:234589002", "UMLS:C5979912"]}
{"category": ["biolink:Disease"], "description": "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.", "id": "MONDO:0017910", "name": "Dehydrated hereditary stomatocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary xerocytosis"], "xref": ["DOID:0111575", "GARD:0005623", "MEDGEN:124415", "NANDO:2200633", "Orphanet:3202", "SCTID:715526002", "UMLS:C0272051", "icd11.foundation:799088159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017913", "name": "Pure or complex hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Pure or complex familial spastic paraplegia", "Pure or complicated familial spastic paraplegia", "Pure or complicated hereditary spastic paraplegia"], "xref": ["GARD:0021429", "MEDGEN:1843255", "Orphanet:320335", "UMLS:C5679885"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.", "id": "MONDO:0017917", "name": "Maternally-inherited spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MT-ATP6-related mitochondrial spastic paraplegia", "maternally-inherited SPG"], "xref": ["GARD:0021433", "MEDGEN:1663227", "Orphanet:320360", "UMLS:C4755299"]}
{"category": ["biolink:Disease"], "description": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.", "id": "MONDO:0017918", "name": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Curatolo-Cilio-Pessagno syndrome"], "xref": ["GARD:0012488", "MEDGEN:419038", "MESH:C536701", "Orphanet:3207", "UMLS:C2931292"]}
{"category": ["biolink:Disease"], "description": "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.", "id": "MONDO:0017919", "name": "Exstrophy-epispadias complex", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EEC", "OEIS complex", "OEIS syndrome"], "xref": ["DOID:0080173", "GARD:0002207", "MEDGEN:338020", "NCIT:C99142", "OMIM:258040", "Orphanet:322", "UMLS:C1850321"]}
{"category": ["biolink:Disease"], "description": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).", "id": "MONDO:0017920", "name": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer-Kapferer syndrome"], "xref": ["GARD:0004303", "MEDGEN:419464", "MESH:C537887", "Orphanet:3224", "SCTID:721086004", "UMLS:C2931654"]}
{"category": ["biolink:Disease"], "description": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.", "id": "MONDO:0017921", "name": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tungland-Bellman syndrome"], "xref": ["GARD:0018788", "MEDGEN:419395", "MESH:C536927", "Orphanet:3225", "SCTID:716239006", "UMLS:C2931369"]}
{"category": ["biolink:Disease"], "description": "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.", "id": "MONDO:0017923", "name": "Multiple synostoses syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WL syndrome", "deafness-Hermann type symphalangism syndrome", "facio-audio-symphalangism", "symphalangism-brachydactyly syndrome"], "xref": ["DOID:0050794", "GARD:0003836", "MEDGEN:511579", "OMIMPS:186500", "Orphanet:3237", "UMLS:C0175700", "icd11.foundation:248917534"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.", "id": "MONDO:0017924", "name": "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Yoshimura-Takeshita syndrome"], "xref": ["GARD:0018789", "MEDGEN:1384620", "Orphanet:3240", "UMLS:C4512024"]}
{"category": ["biolink:Disease"], "description": "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.", "id": "MONDO:0017925", "name": "T-cell immunodeficiency with epidermodysplasia verruciformis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["T-cell immunodeficiency due to RHOH deficiency"], "xref": ["GARD:0017483", "MEDGEN:1648416", "Orphanet:324294", "UMLS:C4749500"]}
{"category": ["biolink:Disease"], "description": "A syndrome caused by early postzygotic mosaic gain-of-function mutations in EPAS1 (encoding hypoxia-inducible factor 2 alpha, HIF-2alpha), characterized by multiple paragangliomas, somatostatinomas, and polycythemia, with variable vascular malformations and neural tube defects.", "id": "MONDO:0017926", "name": "Multiple paragangliomas associated with polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EPAS1 gain-of-function mutation syndrome", "EPAS1-related polycythemia-paraganglioma syndrome", "Mosaic HIF2A gain-of-function disorder", "Pacak-Zhuang syndrome", "multiple paragangliomas associated with erythrocytosis", "paraganglioma-somatostatinoma-polycythemia syndrome", "polycythemia-paraganglioma-somatostatinoma syndrome"], "xref": ["GARD:0021435", "MEDGEN:1812993", "Orphanet:324299", "UMLS:C5679884"]}
{"category": ["biolink:Disease"], "description": "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.", "id": "MONDO:0017927", "name": "Severe lateral tibial bowing with short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021436", "MEDGEN:1634340", "Orphanet:324307", "SCTID:766819001", "UMLS:C4707850"]}
{"category": ["biolink:Disease"], "description": "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).", "id": "MONDO:0017928", "name": "9p13 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(9)(p13)", "monosomy 9p13"], "xref": ["GARD:0021437", "MEDGEN:1635922", "Orphanet:324313", "SCTID:764725008", "UMLS:C4707097"]}
{"category": ["biolink:Disease"], "description": "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.", "id": "MONDO:0017929", "name": "Congenital achiasma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021438", "MEDGEN:1392790", "Orphanet:324353", "SCTID:734031008", "UMLS:C4518345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017930", "name": "Mixed sclerosing bone dystrophy with extra-skeletal manifestations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021439", "MEDGEN:1676501", "Orphanet:324364", "UMLS:C5191052"]}
{"category": ["biolink:Disease"], "description": "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.", "id": "MONDO:0017931", "name": "Hereditary inclusion body myopathy type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIBM4"], "xref": ["GARD:0021440", "MEDGEN:1669421", "Orphanet:324381", "UMLS:C4749501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017932", "name": "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021441", "MEDGEN:1665387", "Orphanet:324416", "UMLS:C4751007"]}
{"category": ["biolink:Disease"], "description": "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.", "id": "MONDO:0017933", "name": "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation"], "xref": ["GARD:0021442", "MEDGEN:1650300", "Orphanet:324525", "UMLS:C4749942"]}
{"category": ["biolink:Disease"], "description": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.", "id": "MONDO:0017934", "name": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome", "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome"], "xref": ["GARD:0021443", "MEDGEN:1651057", "Orphanet:324540", "UMLS:C4751006"]}
{"category": ["biolink:Disease"], "description": "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.", "id": "MONDO:0017935", "name": "Hyperinsulinism due to hnf1a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia due to HNF1A deficiency"], "xref": ["GARD:0021444", "MEDGEN:929144", "Orphanet:324575", "SCTID:721234004", "UMLS:C4303475"]}
{"category": ["biolink:Disease"], "description": "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.", "id": "MONDO:0017936", "name": "Benign samaritan congenital myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021445", "MEDGEN:1666762", "Orphanet:324581", "UMLS:C4749502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017937", "name": "Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021446", "MEDGEN:1650625", "Orphanet:324585", "UMLS:C4755257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017939", "name": "Classic multiminicore myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic multiminicore myopathy"], "xref": ["GARD:0013661", "HP:0003789", "MEDGEN:1826166", "Orphanet:324604", "UMLS:C5679883"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.", "id": "MONDO:0017940", "name": "Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2 due to KIF5A mutation"], "xref": ["GARD:0021447", "MEDGEN:1633598", "Orphanet:324611", "SCTID:764730007", "UMLS:C4707173"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.", "id": "MONDO:0017941", "name": "Chikungunya", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chikungunya fever", "Chikungunya virus caused disease or disorder", "Chikungunya virus disease or disorder", "Chikungunya virus infectious disease"], "xref": ["DOID:0050012", "GARD:0006038", "MEDGEN:3362", "MESH:D065632", "NCIT:C128422", "NORD:924", "Orphanet:324625", "SCTID:111864006", "UMLS:C0008055", "icd11.foundation:900389391"]}
{"category": ["biolink:Disease"], "description": "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.", "id": "MONDO:0017942", "name": "Hendra virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hendra henipavirus caused disease or disorder", "Hendra henipavirus disease or disorder", "Hendra henipavirus infectious disease"], "xref": ["GARD:0021448", "MEDGEN:1388276", "Orphanet:324632", "UMLS:C4505487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017943", "name": "Autoerythrocyte sensitization syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GDS", "Gardner-Diamond syndrome", "painful bruising syndrome", "psychogenic purpura"], "xref": ["GARD:0006481", "ICD9:287.2", "MEDGEN:90141", "MESH:C535645", "Orphanet:324636", "SCTID:275446004", "UMLS:C0301928"]}
{"category": ["biolink:Disease"], "description": "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.", "id": "MONDO:0017944", "name": "Invasive non-typhoidal salmonellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["iNTS disease", "invasive non-typhoidal salmonella disease"], "xref": ["GARD:0021449", "MEDGEN:1638286", "Orphanet:324648", "SCTID:763772002", "UMLS:C4706572"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.", "id": "MONDO:0017945", "name": "Abetal34v amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABeta amyloidosis, Piedmont type", "ABetaL34V-related amyloidosis", "HCHWA, Piedmont type", "hereditary cerebral haemorrhage with amyloidosis, Piedmont type", "hereditary cerebral hemorrhage with amyloidosis, Piedmont type"], "xref": ["GARD:0017489", "MEDGEN:1842835", "Orphanet:324703", "UMLS:C5679882"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.", "id": "MONDO:0017946", "name": "Abeta amyloidosis, iowa type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABetaD23N amyloidosis", "HCHWA, Iowa type", "cerebral amyloid angiopathy, APP-related, Iowa variant", "hereditary cerebral haemorrhage with amyloidosis, Iowa type", "hereditary cerebral hemorrhage with amyloidosis, Iowa type"], "xref": ["GARD:0017490", "MEDGEN:854855", "Orphanet:324708", "UMLS:C3888309"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.", "id": "MONDO:0017947", "name": "Abeta amyloidosis, italian type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABetaE22K amyloidosis", "HCHWA, Italian type", "cerebral amyloid angiopathy, APP-related, Italian variant", "hereditary cerebral haemorrhage with amyloidosis, Italian type", "hereditary cerebral hemorrhage with amyloidosis, Italian type"], "xref": ["GARD:0017491", "MEDGEN:854854", "Orphanet:324713", "UMLS:C3888308"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.", "id": "MONDO:0017948", "name": "Abetaa21g amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABeta amyloidosis, Flemish type", "ABetaA21G-related amyloidosis", "HCHWA, Flemish type", "cerebral amyloid angiopathy, APP-related, Flemish variant", "hereditary cerebral haemorrhage with amyloidosis, Flemish type", "hereditary cerebral hemorrhage with amyloidosis, Flemish type"], "xref": ["GARD:0017492", "MEDGEN:854853", "Orphanet:324718", "UMLS:C3888307"]}
{"category": ["biolink:Disease"], "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.", "id": "MONDO:0017949", "name": "Abeta amyloidosis, arctic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ABetaE22G amyloidosis", "HCHWA, Arctic type", "cerebral amyloid angiopathy, APP-related, Arctic variant", "hereditary cerebral haemorrhage with amyloidosis, Arctic type", "hereditary cerebral hemorrhage with amyloidosis, Arctic type"], "xref": ["GARD:0017493", "MEDGEN:414032", "Orphanet:324723", "UMLS:C2751494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017951", "name": "Trichorhinophalangeal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TRPS"], "xref": ["GARD:0021451", "ICD9:759.89", "MEDGEN:539179", "OMIMPS:190350", "Orphanet:324764", "SCTID:18077009", "UMLS:C0265255"]}
{"category": ["biolink:Disease"], "description": "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0017953", "name": "Hereditary periodic fever syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary periodic fever syndrome"], "xref": ["GARD:0021453", "MEDGEN:199651", "MESH:D056660", "Orphanet:324924", "UMLS:C0751422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017958", "name": "Magic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["mouth and genital ulcers with inflamed cartilage"], "xref": ["GARD:0013371", "MEDGEN:590513", "Orphanet:324972", "UMLS:C0406568"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017967", "name": "Testicular agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bilateral anorchia"], "xref": ["GARD:0005819", "MEDGEN:98344", "Orphanet:325124", "SCTID:371015003", "UMLS:C0405582", "icd11.foundation:1382370664"]}
{"category": ["biolink:Disease"], "description": "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.", "id": "MONDO:0017968", "name": "46,xy ovotesticular disorder of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XY ovotesticular DSD"], "xref": ["GARD:0021469", "MEDGEN:394582", "Orphanet:325345", "SCTID:763683004", "UMLS:C2697358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017972", "name": "Classic congenital lipoid adrenal hyperplasia due to star deficency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic CLAH"], "xref": ["GARD:0021473", "MEDGEN:1842881", "Orphanet:325524", "UMLS:C5679869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017973", "name": "Non-classic congenital lipoid adrenal hyperplasia due to star deficency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021474", "MEDGEN:1842170", "Orphanet:325529", "UMLS:C5680948"]}
{"category": ["biolink:Disease"], "description": "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.", "id": "MONDO:0017975", "name": "Sex chromosome disorder of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["Sex chromosome DSD"], "xref": ["MEDGEN:423530", "MESH:D058533", "Orphanet:325546", "UMLS:C2936421"]}
{"category": ["biolink:Disease"], "description": "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.", "id": "MONDO:0017979", "name": "Autoimmune lymphoproliferative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALPS", "ALPS (autoimmune lymphoproliferative syndrome)", "Canale-Smith syndrome", "FAS deficiency"], "xref": ["CSP:1560-5548", "DOID:6688", "GARD:0008686", "ICD10CM:D89.82", "MESH:D056735", "MedDRA:10069521", "NANDO:1200352", "NANDO:2200726", "NCIT:C37864", "Orphanet:3261", "icd11.foundation:1072688797"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017980", "name": "Syngnathia multiple anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dobrow syndrome", "syngnathia-multiple anomalies syndrome"], "xref": ["GARD:0005092", "MEDGEN:1678646", "Orphanet:3262", "UMLS:C5190737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017981", "name": "Syngnathia-cleft palate syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005091", "MEDGEN:1842763", "Orphanet:3263", "UMLS:C5680792"]}
{"category": ["biolink:Disease"], "description": "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.", "id": "MONDO:0017983", "name": "Humero-radio-ulnar synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["humero-radio-ulnar fusion"], "xref": ["GARD:0002749", "MEDGEN:1656946", "Orphanet:3266", "UMLS:C4751207", "icd11.foundation:1798339866"]}
{"category": ["biolink:Disease"], "description": "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.", "id": "MONDO:0017985", "name": "Congenital radioulnar synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["radioulnar fusion", "radioulnar synostosis", "radioulnar synostosis (disease)"], "xref": ["DOID:9827", "GARD:0010876", "HP:0002974", "ICD9:755.53", "MEDGEN:57861", "MESH:C562408", "Orphanet:3269", "SCTID:33313004", "UMLS:C0158761", "icd11.foundation:1098526181"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017986", "name": "Disorder of plasmalogens biosynthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of plasmalogens biosynthesis"], "xref": ["GARD:0018790", "MEDGEN:1842510", "NANDO:1200770", "Orphanet:3276", "UMLS:C5681192"]}
{"category": ["biolink:Disease"], "description": "Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).", "id": "MONDO:0017987", "name": "Syringomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:327", "GARD:0007725", "MEDGEN:21449", "MESH:D013595", "MedDRA:10042928", "NANDO:1200506", "NANDO:1200507", "NCIT:C85179", "NORD:1755", "Orphanet:3280", "SCTID:111496009", "UMLS:C0039144", "icd11.foundation:1161887622"]}
{"category": ["biolink:Disease"], "description": "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.", "id": "MONDO:0017988", "name": "Multifocal atrial tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MAT", "chaotic atrial tachycardia", "multifocal atrial tachycardia", "multifocal atrial tachycardia (disease)"], "xref": ["GARD:0001235", "HP:0011701", "ICD9:427.89", "MEDGEN:66362", "Orphanet:3282", "SCTID:49982000", "UMLS:C0221158", "icd11.foundation:262929566"]}
{"category": ["biolink:Disease"], "description": "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.", "id": "MONDO:0017989", "name": "His bundle tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JET", "junctional ectopic tachycardia"], "xref": ["GARD:0002706", "ICD9:427.89", "MEDGEN:21066", "MESH:D013613", "NCIT:C111646", "Orphanet:3283", "SCTID:233901002", "UMLS:C0039235", "icd11.foundation:962827983"]}
{"category": ["biolink:Disease"], "description": "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.", "id": "MONDO:0017990", "name": "Catecholaminergic polymorphic ventricular tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPVT", "bidirectional tachycardia induced by catecholamine", "catecholaminergic polymorphic ventricular tachycardia", "double tachycardia induced by catecholamines", "malignant paroxysmal ventricular tachycardia", "multifocal ventricular premature beats", "ventricular tachycardia, catecholaminergic polymorphic"], "xref": ["DOID:0060674", "GARD:0004421", "MEDGEN:1803763", "MESH:C536334", "NANDO:2200216", "NANDO:2200221", "OMIMPS:604772", "Orphanet:3286", "SCTID:419671004", "UMLS:C5574922", "icd11.foundation:976309888"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.", "id": "MONDO:0017991", "name": "Takayasu arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arteritis, Takayasu", "Takayasu arteritis", "Takayasu's arteritis", "Takayasu's disease", "aortic arch arteritis", "aortic arch syndrome", "cervical aortic arch", "idiopathic aortitis", "pharyngeal arch artery syndromic disease"], "xref": ["DOID:2508", "EFO:1001857", "GARD:0007730", "ICD10CM:M31.4", "ICD9:446.7", "MEDGEN:21458", "MESH:D013625", "MedDRA:10043097", "NANDO:1200251", "NANDO:2200423", "NCIT:C34391", "NCIT:C35062", "NORD:806", "OMIM:207600", "Orphanet:3287", "Orphanet:99079", "SCTID:239937004", "UMLS:C0039263", "icd11.foundation:1327645131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017992", "name": "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017494", "MEDGEN:1720168", "Orphanet:329173", "UMLS:C5394674"]}
{"category": ["biolink:Disease"], "description": "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.", "id": "MONDO:0017993", "name": "Cerebral sinovenous thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CSVT"], "xref": ["GARD:0021485", "MEDGEN:572643", "Orphanet:329217", "UMLS:C0338573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017994", "name": "Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021486", "MEDGEN:1674241", "Orphanet:329249", "UMLS:C5190989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0017995", "name": "Spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025124", "MEDGEN:1665083", "Orphanet:329252", "UMLS:C4751002"]}
{"category": ["biolink:Disease"], "description": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.", "id": "MONDO:0017997", "name": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018791", "Orphanet:3293"]}
{"category": ["biolink:Disease"], "description": "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.", "id": "MONDO:0017998", "name": "Pla2g6-associated neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PLA2G6 neurodegeneration with brain iron accumulation", "PLAN", "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6"], "xref": ["GARD:0012567", "NORD:1302", "Orphanet:329303"]}
{"category": ["biolink:Disease"], "description": "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.", "id": "MONDO:0017999", "name": "Fatty acid hydroxylase-associated neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FAHN"], "xref": ["GARD:0010810", "MEDGEN:777150", "MESH:C580102", "NANDO:1200541", "Orphanet:329308", "UMLS:C3668943"]}
{"category": ["biolink:Disease"], "description": "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.", "id": "MONDO:0018000", "name": "Hereditary thrombocytosis with transverse limb defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial thrombocytosis with transverse limb defect"], "xref": ["GARD:0021487", "MEDGEN:1653707", "Orphanet:329319", "UMLS:C4749944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018001", "name": "Inverse klippel-trenaunay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cutaneous hemangioma with muscle or bone atrophy"], "xref": ["GARD:0021488", "Orphanet:329324"]}
{"category": ["biolink:Disease"], "description": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.", "id": "MONDO:0018002", "name": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adult-onset CPEO with mitochondrial myopathy"], "xref": ["GARD:0017503", "MEDGEN:1393682", "Orphanet:329336", "SCTID:725464001", "UMLS:C4511138"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018003", "name": "Limbic encephalitis with dpp6 antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["limbic encephalitis with DPPX antibodies", "limbic encephalitis with dipeptidyl-peptidase 6 antibodies"], "xref": ["GARD:0025125", "MEDGEN:1664407", "Orphanet:329341", "UMLS:C4750833"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018004", "name": "Acute megakaryoblastic leukemia without down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["non-DS-AMKL"], "xref": ["GARD:0021490", "MEDGEN:1843134", "Orphanet:329469", "UMLS:C5679860"]}
{"category": ["biolink:Disease"], "description": "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.", "id": "MONDO:0018005", "name": "Spastic paraplegia-paget disease of bone syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021491", "MEDGEN:1388986", "Orphanet:329475", "UMLS:C4511969"]}
{"category": ["biolink:Disease"], "description": "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.", "id": "MONDO:0018006", "name": "Adult-onset distal myopathy due to vcp mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021492", "MEDGEN:1660404", "Orphanet:329478", "UMLS:C4749506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018007", "name": "Mosaic genome-wide paternal uniparental disomy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic genome-wide paternal UPD", "androgenetic/biparental mosaicism", "genome-wide paternal uniparental disomy mosaicism"], "xref": ["GARD:0021493", "MEDGEN:1679626", "Orphanet:329813", "UMLS:C5190828"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018008", "name": "Idiopathic giant cell myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IGCM"], "xref": ["GARD:0021494", "MEDGEN:82685", "Orphanet:329874", "UMLS:C0264856"]}
{"category": ["biolink:Disease"], "description": "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.", "id": "MONDO:0018009", "name": "Non-hypoproteinemic hypertrophic gastropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hypertrophic gastropathy without hypoproteinemia"], "xref": ["GARD:0021495", "MEDGEN:1654450", "Orphanet:329883", "UMLS:C4750834"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018010", "name": "Juvenile idiopathic inflammatory myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["JIIM"], "xref": ["GARD:0021496", "MEDGEN:1842624", "Orphanet:329888", "UMLS:C5679857"]}
{"category": ["biolink:Disease"], "description": "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.", "id": "MONDO:0018011", "name": "Juvenile overlap myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021497", "MEDGEN:1634026", "Orphanet:329894", "SCTID:766252004", "UMLS:C4707728"]}
{"category": ["biolink:Disease"], "description": "A rare primary membranoproliferative glomerulonephritis characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples.", "id": "MONDO:0018013", "name": "Complement 3 glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["C3 glomerulopathy", "C3G", "non-Ig-mediated MPGN", "non-Ig-mediated membranoproliferative glomerulonephritis", "non-immunoglobulin-mediated MPGN", "non-immunoglobulin-mediated membranoproliferative glomerulonephritis"], "xref": ["GARD:0017507", "MEDGEN:1672497", "Orphanet:329918", "UMLS:C4087273"]}
{"category": ["biolink:Disease"], "description": "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.", "id": "MONDO:0018014", "name": "Transient neonatal multiple acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["transient neonatal MAD deficiency", "transient neonatal MADD", "transient neonatal glutaric acidemia type 2", "transient neonatal glutaric aciduria type 2"], "xref": ["GARD:0021498", "MEDGEN:1373921", "Orphanet:329942", "SCTID:723552005", "UMLS:C4509950"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018015", "name": "Intermittent hydrarthrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021499", "ICD10CM:M12.4", "MEDGEN:508453", "Orphanet:329967", "SCTID:711286009", "UMLS:C0149910", "icd11.foundation:1855039383"]}
{"category": ["biolink:Disease"], "description": "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.", "id": "MONDO:0018016", "name": "Classic neuroendocrine tumor of appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["classic appendiceal neuroendocrine tumor", "classic appendiceal neuroendocrine tumour", "classic appendix neuroendocrine tumor", "classic appendix neuroendocrine tumour"], "xref": ["GARD:0021500", "MEDGEN:1843245", "Orphanet:329977", "UMLS:C5679854"]}
{"category": ["biolink:Disease"], "description": "An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.", "id": "MONDO:0018017", "name": "Goblet cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["GCC", "Goblet Cell Adenocarcinoma", "appendix adenocarcinoid tumor", "appendix adenocarcinoid tumour", "appendix goblet cell carcinoid", "appendix goblet cell carcinoid tumor", "appendix goblet cell carcinoid tumour", "appendix mixed carcinoid-adenocarcinoma", "carcinoma of goblet cell", "goblet cell adenocarcinoid", "goblet cell carcinoid", "goblet cell carcinoid of appendix", "goblet cell carcinoid of the appendix", "goblet cell carcinoid tumor", "goblet cell carcinoid tumour", "goblet cell carcinoma", "goblet cell tumor", "goblet cell tumour", "mucinous carcinoid tumor", "mucinous carcinoid tumour"], "xref": ["GARD:0010414", "ICDO:8243/3", "MEDGEN:60007", "NCIT:C3689", "NORD:1931", "ONCOTREE:GCCAP", "Orphanet:329984", "UMLS:C0205695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018018", "name": "Wild type attr amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ATTRwt amyloidosis", "ATTRwt-related amyloidosis", "SSA", "Senile systemic amyloidosis", "wild type ATTR-related amyloidosis"], "xref": ["DOID:0080937", "GARD:0021501", "ICD10CM:E85.82", "ICD9:277.39", "MEDGEN:87446", "NANDO:1200212", "Orphanet:330001", "SCTID:237877004", "UMLS:C0342623", "icd11.foundation:25699053"]}
{"category": ["biolink:Disease"], "description": "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.", "id": "MONDO:0018019", "name": "Lead poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Lead intoxication", "plumbism", "saturnism"], "xref": ["GARD:0021503", "ICD9:984.8", "ICD9:984.9", "MESH:D007855", "Orphanet:330015", "SCTID:38342005"]}
{"category": ["biolink:Disease"], "description": "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.", "id": "MONDO:0018020", "name": "Mercury poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mercury intoxication", "hydrargyria", "mercurialism"], "xref": ["EFO:1001810", "GARD:0007021", "ICD9:985.0", "MESH:D008630", "Orphanet:330021", "SCTID:85180002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018021", "name": "Hypotrichosis-deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021504", "MEDGEN:1679303", "Orphanet:330029", "UMLS:C5190988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018022", "name": "Hemoglobin lepore-beta-thalassemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HbLepore-beta-thalassemia syndrome", "Lepore-beta-thalassemia syndrome"], "xref": ["GARD:0021505", "MEDGEN:1826060", "Orphanet:330032", "UMLS:C5679855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018023", "name": "Hemoglobin m disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["M hemoglobinopathy", "methemoglobinemia, beta type"], "xref": ["GARD:0013007", "MEDGEN:777099", "MESH:C581942", "OMIM:617971", "Orphanet:330041", "SCTID:74912001", "UMLS:C3665425"]}
{"category": ["biolink:Disease"], "description": "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.", "id": "MONDO:0018024", "name": "Hydroa vacciniforme", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009654", "MEDGEN:5661", "MESH:D006837", "NCIT:C84766", "Orphanet:330058", "SCTID:200837006", "UMLS:C0020241", "icd11.foundation:2053786485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018025", "name": "Chronic actinic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["actinic reticuloid", "chronic photosensitivity dermatitis"], "xref": ["GARD:0021506", "ICD10CM:L57.1", "ICD9:692.73", "MEDGEN:76406", "Orphanet:330064", "SCTID:52636001", "UMLS:C0282309", "icd11.foundation:248339081"]}
{"category": ["biolink:Disease"], "description": "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.", "id": "MONDO:0018026", "name": "Tetraploidy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["tetraploidy"], "xref": ["GARD:0005151", "MEDGEN:163193", "MESH:D057891", "Orphanet:3305", "SCTID:726363000", "UMLS:C0795884", "icd11.foundation:1705084192"]}
{"category": ["biolink:Disease"], "description": "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0018027", "name": "Duplication/inversion 15q11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Duplication/inversion type 15q11", "Inv dup(15)", "Invdup(15)", "Isodicentric 15 chromosome", "duplication/inversion 15q11", "idic(15)", "non-distal tetrasomy 15q", "non-telomeric tetrasomy 15q"], "xref": ["GARD:0005153", "MEDGEN:777984", "MESH:C580205", "Orphanet:3306", "SCTID:723332005", "UMLS:C3711376"]}
{"category": ["biolink:Disease"], "description": "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).", "id": "MONDO:0018028", "name": "Tetrasomy 5p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Isochromosome 5p", "tetrasomy type 5p"], "xref": ["GARD:0018792", "MEDGEN:1638801", "Orphanet:3309", "SCTID:766755003", "UMLS:C0795813"]}
{"category": ["biolink:Disease"], "description": "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.", "id": "MONDO:0018029", "name": "Congenital factor xiii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2211", "GARD:0010766", "ICD9:286.3", "MEDGEN:4639", "NANDO:2200681", "NCIT:C131633", "Orphanet:331", "SCTID:50189006", "UMLS:C0015530"]}
{"category": ["biolink:Disease"], "description": "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).", "id": "MONDO:0018030", "name": "Tetrasomy 9p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 9, Tetrasomy 9p", "Isochromosome 9p", "tetrasomy type 9p"], "xref": ["GARD:0000042", "MEDGEN:162876", "MESH:C538027", "NORD:964", "Orphanet:3310", "SCTID:715530004", "UMLS:C0795832", "icd11.foundation:1426428869"]}
{"category": ["biolink:Disease"], "description": "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.", "id": "MONDO:0018031", "name": "Granulomatous slack skin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["granulomatous slack skin"], "xref": ["GARD:0010986", "MEDGEN:99139", "NCIT:C35464", "Orphanet:33111", "SCTID:277796003", "UMLS:C0457002"]}
{"category": ["biolink:Disease"], "description": "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.", "id": "MONDO:0018034", "name": "Thalidomide embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fetal thalidomide syndrome", "foetal thalidomide syndrome", "thalidomide embryopathy syndrome", "thalidomide-induced birth defect"], "xref": ["ICD9:759.89", "MEDGEN:98490", "MedDRA:10071249", "NCIT:C99082", "Orphanet:3312", "SCTID:36193003", "UMLS:C0432365", "icd11.foundation:299085643"]}
{"category": ["biolink:Disease"], "description": "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.", "id": "MONDO:0018037", "name": "Hyper-ige syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HIES", "hyper-IgE recurrent infection syndrome", "hyperimmunoglobulin E syndrome"], "xref": ["DOID:0080545", "GARD:0010956", "MEDGEN:854488", "NANDO:1200340", "NANDO:2200713", "NCIT:C3144", "OMIMPS:147060", "Orphanet:331223", "UMLS:C3887645", "icd11.foundation:223461798"]}
{"category": ["biolink:Disease"], "description": "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.", "id": "MONDO:0018039", "name": "Selective igm deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["selective IgM deficiency disease", "selective immunoglobulin M deficiency"], "xref": ["DOID:0050222", "GARD:0012547", "ICD9:279.02", "MEDGEN:57820", "Orphanet:331235", "SCTID:190980000", "UMLS:C0154275"]}
{"category": ["biolink:Disease"], "description": "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.", "id": "MONDO:0018043", "name": "Thomas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Potter sequence-cleft lip/palate-cardiopathy syndrome"], "xref": ["GARD:0005175", "MEDGEN:419362", "MESH:C536514", "Orphanet:3316", "SCTID:716740009", "UMLS:C2931225"]}
{"category": ["biolink:Disease"], "description": "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.", "id": "MONDO:0018044", "name": "Idiopathic hypersomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["primary hypersomnia"], "xref": ["GARD:0008737", "ICD10CM:F51.11", "MEDGEN:155626", "MESH:D020177", "NCIT:C116343", "Orphanet:33208", "SCTID:3731000119107", "UMLS:C0751757", "icd11.foundation:631826564"]}
{"category": ["biolink:Disease"], "description": "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.", "id": "MONDO:0018045", "name": "Hoyeraal-hreidarsson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"], "xref": ["GARD:0000346", "MEDGEN:337518", "MESH:C536068", "Orphanet:3322", "SCTID:707276009", "UMLS:C1846142", "icd11.foundation:340127408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018046", "name": "Thrombocytopenia-robin sequence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "xref": ["MEDGEN:419058", "MESH:C536898", "Orphanet:3323", "UMLS:C2931364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018047", "name": "Familial thrombomodulin anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005195", "HGNC:11784", "MEDGEN:419059", "MESH:C536900", "Orphanet:3324", "UMLS:C2931365"]}
{"category": ["biolink:Disease"], "description": "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.", "id": "MONDO:0018048", "name": "Heparin-induced thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HAT", "HIT", "heparin-associated thrombocytopenia", "heparin-induced thrombocytopenia", "heparin-induced thrombocytopenia (disease)", "heparin-induced thrombocytopenia type 2"], "xref": ["GARD:0002650", "HP:0011874", "ICD9:289.84", "MEDGEN:124423", "MedDRA:10062506", "NANDO:2200648", "Orphanet:3325", "SCTID:73397007", "UMLS:C0272285", "icd11.foundation:1143142333"]}
{"category": ["biolink:Disease"], "description": "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.", "id": "MONDO:0018050", "name": "Tibial aplasia-ectrodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SHFLD syndrome", "SHFM associated with aplasia of long bones", "TH-SHFM", "aplasia of tibia with split-hand/split-foot deformity", "split hand/foot malformation with long bone deficiency", "split-hand/foot malformation associated with aplasia of long bones", "tibial hemimelia with split hand/foot malformation", "tibial hemimelia-ectrodactyly syndrome"], "xref": ["GARD:0001369", "MEDGEN:1639878", "Orphanet:3329", "UMLS:C4551989"]}
{"category": ["biolink:Disease"], "description": "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.", "id": "MONDO:0018051", "name": "Jessner lymphocytic infiltration of the skin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Jessner-Kanof lymphocytic infiltration of the skin", "Lymphocytic Infiltrate of Jessner"], "xref": ["GARD:0006940", "MEDGEN:663150", "NORD:1384", "Orphanet:33314", "UMLS:C0580181", "icd11.foundation:1624135677"]}
{"category": ["biolink:Disease"], "description": "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).", "id": "MONDO:0018053", "name": "Trichothiodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["trichothiodystrophy syndrome"], "xref": ["DOID:0111866", "GARD:0012109", "MEDGEN:363064", "MedDRA:10044628", "NANDO:1200627", "NCIT:C4924", "NORD:1292", "OMIMPS:601675", "Orphanet:33364", "SCTID:723551003", "UMLS:C1955934", "icd11.foundation:1366758649"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.", "id": "MONDO:0018054", "name": "Familial atrial fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary atrial fibrillation (disease)"], "xref": ["DOID:0050650", "GARD:0009740", "MEDGEN:894635", "OMIMPS:608583", "Orphanet:334", "SCTID:715395008", "UMLS:C3468561", "icd11.foundation:45855978"]}
{"category": ["biolink:Disease"], "description": "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.", "id": "MONDO:0018055", "name": "Pediatric hepatocellular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Paediatric carcinoma of the liver cell", "Pediatric carcinoma of the liver cell", "childhood carcinoma of the liver cell", "childhood hepatocellular carcinoma", "childhood-onset HCC", "childhood-onset hepatocellular carcinoma", "paediatric HCC", "pediatric HCC"], "xref": ["DOID:0070322", "GARD:0009331", "MEDGEN:75999", "NCIT:C7955", "Orphanet:33402", "UMLS:C0279606"]}
{"category": ["biolink:Disease"], "description": "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.", "id": "MONDO:0018056", "name": "Bullous lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018808", "ICD10CM:L43.1", "MEDGEN:9755", "MedDRA:10056960", "NCIT:C34778", "Orphanet:33408", "SCTID:6111009", "UMLS:C0023648", "icd11.foundation:606709958"]}
{"category": ["biolink:Disease"], "description": "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.", "id": "MONDO:0018058", "name": "Tracheal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of trachea", "tracheal absence"], "xref": ["GARD:0005233", "MEDGEN:266059", "MESH:C536975", "NCIT:C35376", "Orphanet:3346", "SCTID:3987009", "UMLS:C1261567"]}
{"category": ["biolink:Disease"], "description": "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.", "id": "MONDO:0018059", "name": "Meningococcal meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080176", "EFO:1001040", "GARD:0018809", "ICD10CM:A39.0", "ICD9:036.0", "MEDGEN:6299", "MESH:D008585", "MedDRA:10027249", "MedDRA:10027276", "NORD:1438", "Orphanet:33475", "SCTID:192644005", "UMLS:C0025294", "icd11.foundation:516585689"]}
{"category": ["biolink:Disease"], "description": "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).", "id": "MONDO:0018060", "name": "Congenital fibrinogen deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital fibrinogen deficiency"], "xref": ["GARD:0002320", "MEDGEN:9230", "Orphanet:335", "UMLS:C0019250", "icd11.foundation:1452989457"]}
{"category": ["biolink:Disease"], "description": "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.", "id": "MONDO:0018061", "name": "Trichodermodysplasia-dental alterations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pinheiro-Freire Maia-Miranda syndrome"], "xref": ["GARD:0004369", "MEDGEN:419092", "MESH:C537402", "Orphanet:3353", "UMLS:C2931485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018062", "name": "Autosomal dominant trichoodontoonychodysplasia-syndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["Trueb-Burg-Bottani syndrome"], "xref": ["GARD:0005376", "MEDGEN:419366", "MESH:C536565", "Orphanet:3357", "UMLS:C2931239"]}
{"category": ["biolink:Disease"], "description": "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.", "id": "MONDO:0018063", "name": "Nodular non-suppurative panniculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer-Weber-Christian syndrome", "Relapsing febrile nodular nonsuppurative panniculitis", "Relapsing febrile nodular panniculitis", "WCD", "Weber-Christian disease", "Weber-Christian panniculitis", "idiopathic lobular panniculitis", "idiopathic nodular panniculitis", "nodular nonsuppurative panniculitis"], "xref": ["DOID:1525", "EFO:1000742", "GARD:0007879", "MEDGEN:10559", "MESH:D010201", "MedDRA:10047883", "Orphanet:33577", "SCTID:33760009", "UMLS:C0030328"]}
{"category": ["biolink:Disease"], "description": "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.", "id": "MONDO:0018064", "name": "Trigonocephaly-broad thumbs syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hunter-Rudd-Hoffmann syndrome"], "xref": ["GARD:0002756", "MEDGEN:930637", "Orphanet:3365", "SCTID:719949001", "UMLS:C4304968"]}
{"category": ["biolink:Disease"], "description": "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.", "id": "MONDO:0018065", "name": "Isolated trigonocephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-syndromic metopic craniosynostosis", "nonsyndromic trigonocephaly"], "xref": ["GARD:0016626", "MEDGEN:1812049", "NANDO:2201305", "OMIMPS:190440", "Orphanet:3366", "UMLS:C5575700"]}
{"category": ["biolink:Disease"], "description": "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).", "id": "MONDO:0018066", "name": "Trisomy x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["47,XXX", "47,XXX syndrome", "Triplo-X syndrome", "XXX syndrome", "triple X syndrome", "trisomy X", "trisomy type X"], "xref": ["GARD:0005672", "MEDGEN:113140", "MESH:C535318", "NCIT:C129718", "NORD:1798", "Orphanet:3375", "SCTID:35111009", "UMLS:C0221033", "icd11.foundation:423644907"]}
{"category": ["biolink:Disease"], "description": "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0018067", "name": "Triploidy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005295", "ICD9:758.89", "MEDGEN:90711", "MESH:D057885", "NCIT:C85204", "NORD:1794", "Orphanet:3376", "SCTID:66651005", "UMLS:C0333693", "icd11.foundation:1900317965"]}
{"category": ["biolink:Disease"], "description": "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.", "id": "MONDO:0018068", "name": "Trisomy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Patau syndrome", "Patau's syndrome", "Trisomy 13 Syndrome", "trisomy 13", "trisomy type 13"], "xref": ["DOID:11665", "GARD:0007341", "ICD9:758.1", "MEDGEN:56261", "MESH:C536305", "MedDRA:10044686", "NANDO:2200964", "NCIT:C101223", "NCIT:C36529", "NORD:1796", "Orphanet:3378", "SCTID:21111006", "UMLS:C0152095", "icd11.foundation:1435958084"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.", "id": "MONDO:0018069", "name": "Distal trisomy 17q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal duplication 17q", "distal trisomy type 17q", "telomeric duplication 17q", "trisomy 17qter"], "xref": ["GARD:0018794", "MEDGEN:1635674", "Orphanet:3379", "SCTID:766051001", "UMLS:C4707663"]}
{"category": ["biolink:Disease"], "description": "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.", "id": "MONDO:0018070", "name": "Familial multiple fibrofolliculoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0003831", "Orphanet:338", "SCTID:723361006"]}
{"category": ["biolink:Disease"], "description": "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.", "id": "MONDO:0018071", "name": "Trisomy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["E3 trisomy", "Edwards syndrome", "chromosome 18 duplication", "complete trisomy 18 syndrome", "trisomy 18", "trisomy type 18"], "xref": ["DOID:1085", "GARD:0006321", "ICD9:758.2", "MEDGEN:1384417", "MESH:C580500", "MedDRA:10053884", "NANDO:2200963", "NCIT:C36626", "NORD:1797", "Orphanet:3380", "SCTID:51500006", "UMLS:C4317091", "icd11.foundation:1505179968"]}
{"category": ["biolink:Disease"], "description": "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.", "id": "MONDO:0018072", "name": "Persistent truncus arteriosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TAC", "Truncus Arteriosus", "common aorticopulmonary trunk", "common arterial trunk", "common truncus arteriosus", "persistent truncus arteriosus", "persistent truncus arteriosus (disease)", "truncus arteriosus"], "xref": ["GARD:0016627", "ICD10CM:Q20.0", "MEDGEN:52867", "MESH:D014339", "NANDO:1200693", "NANDO:2200261", "NCIT:C98880", "NORD:1800", "Orphanet:3384", "UMLS:C0041207", "icd11.foundation:1832500366"]}
{"category": ["biolink:Disease"], "description": "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.", "id": "MONDO:0018075", "name": "Neural tube defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NTD", "spinal dysraphism"], "xref": ["DOID:0080074", "GARD:0018796", "ICD9:742.8", "MEDGEN:18009", "MESH:D009436", "NCIT:C84923", "Orphanet:3388", "SCTID:253098009", "UMLS:C0027794"]}
{"category": ["biolink:Disease"], "description": "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.", "id": "MONDO:0018076", "name": "Tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["tuberculosis disease"], "xref": ["DOID:399", "GARD:0007827", "ICD10CM:A15-A19", "ICD10WHO:A15-A19", "ICD9:017.90", "ICD9:017.92", "ICD9:017.94", "ICD9:017.96", "MEDGEN:22513", "MESH:D014376", "MedDRA:10044755", "NCIT:C3423", "NORD:1801", "Orphanet:3389", "SCTID:56717001", "UMLS:C0041296", "icd11.foundation:2072728114"]}
{"category": ["biolink:Disease"], "description": "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.", "id": "MONDO:0018077", "name": "Tularemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Francisella tularensis caused disease or disorder", "Francisella tularensis disease or disorder", "Francisella tularensis infectious disease"], "xref": ["DOID:2123", "EFO:1001444", "GARD:0000396", "ICD10CM:A21", "ICD9:021.8", "ICD9:021.9", "MEDGEN:22520", "MESH:D014406", "MedDRA:10045146", "NCIT:C85208", "NORD:1803", "Orphanet:3392", "SCTID:19265001", "UMLS:C0041351"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.", "id": "MONDO:0018078", "name": "Soft tissue sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["connective tissue sarcoma", "malignant mesenchymal tumor", "malignant mesenchymal tumour", "non-Rhabdo. soft tissue sarcoma", "sarcoma of soft tissue", "sarcoma of the soft tissue", "soft part sarcoma", "soft tissue sarcoma"], "xref": ["DOID:0070663", "EFO:1001968", "GARD:0004898", "MEDGEN:1642116", "NCIT:C9306", "NORD:1953", "Orphanet:3394", "SCTID:424952003", "UMLS:C4551687"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.", "id": "MONDO:0018079", "name": "Thymic epithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TEN", "Thymus epithelial neoplasm", "Thymus epithelial tumor", "Thymus epithelial tumour", "epithelial neoplasm of Thymus", "epithelial neoplasm of the Thymus", "epithelial tumor of Thymus", "epithelial tumor of the Thymus", "epithelial tumour of Thymus", "epithelial tumour of the Thymus", "thymic epithelial tumor", "thymic epithelial tumour", "thymic epithelium neoplasm", "thymus epithelial neoplasm"], "xref": ["GARD:0005201", "MEDGEN:220416", "MESH:C536905", "NCIT:C6450", "ONCOTREE:TET", "Orphanet:3398", "UMLS:C1266101"]}
{"category": ["biolink:Disease"], "description": "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.", "id": "MONDO:0018081", "name": "Hemorrhagic fever-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hantavirosis", "Hantavirus fever"], "xref": ["GARD:0018689", "MEDGEN:42408", "MESH:C535630", "MedDRA:10023484", "Orphanet:340", "UMLS:C0019101", "icd11.foundation:1059069619"]}
{"category": ["biolink:Disease"], "description": "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.", "id": "MONDO:0018082", "name": "Aorto-ventricular tunnel", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aorto-ventricular tunnel", "aorto-ventricular tunnel (disease)"], "xref": ["GARD:0018798", "HP:0011627", "MEDGEN:868852", "MESH:D000082903", "Orphanet:3400", "UMLS:C4023262", "icd11.foundation:470594532"]}
{"category": ["biolink:Disease"], "description": "A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.", "id": "MONDO:0018083", "name": "Transient tyrosinemia of the newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["transient neonatal tyrosinemia", "transient tyrosinemia of the neonate"], "xref": ["GARD:0005388", "MEDGEN:541331", "Orphanet:3402", "UMLS:C0268485"]}
{"category": ["biolink:Disease"], "description": "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.", "id": "MONDO:0018084", "name": "Uhl anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005393", "MEDGEN:78576", "MESH:C536932", "MedDRA:10048951", "Orphanet:3403", "UMLS:C0265857", "icd11.foundation:240652322"]}
{"category": ["biolink:Disease"], "description": "Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage.", "id": "MONDO:0018085", "name": "Umbilical cord ulceration-intestinal atresia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005403", "MEDGEN:419062", "MESH:C536938", "Orphanet:3405", "UMLS:C2931371"]}
{"category": ["biolink:Disease"], "description": "Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.", "id": "MONDO:0018086", "name": "Ulerythema ophryogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005395", "MEDGEN:1813086", "Orphanet:3406", "UMLS:C5700076"]}
{"category": ["biolink:Disease"], "description": "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.", "id": "MONDO:0018087", "name": "Viral hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["VHF", "VHFs", "haemorrhagic fevers, viral", "viral haemorrhagic fever"], "xref": ["GARD:0005494", "MEDGEN:9213", "MESH:D006482", "NCIT:C36170", "Orphanet:341", "SCTID:240523007", "UMLS:C0019104"]}
{"category": ["biolink:Disease"], "description": "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.", "id": "MONDO:0018088", "name": "Familial mediterranean fever", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FMF", "Fiebre mediterránea familiar", "benign paroxysmal peritonitis", "benign recurrent polyserositis", "familial paroxysmal polyserositis", "periodic disease"], "xref": ["DOID:2987", "GARD:0006421", "ICD9:277.31", "MEDGEN:45811", "MESH:D010505", "MedDRA:10016207", "NANDO:1200863", "NANDO:2200431", "NCIT:C84707", "NORD:1130", "Orphanet:342", "SCTID:12579009", "UMLS:C0031069", "icd11.foundation:1373335705"]}
{"category": ["biolink:Disease"], "description": "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.", "id": "MONDO:0018089", "name": "Double outlet right ventricle", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DORV", "double outlet right ventricle"], "xref": ["DOID:6406", "GARD:0001908", "ICD10CM:Q20.1", "MEDGEN:41649", "MESH:D004310", "MedDRA:10013611", "NANDO:1200710", "NANDO:2100076", "NANDO:2200256", "NCIT:C98916", "Orphanet:3426", "SCTID:204299009", "UMLS:C0013069", "icd11.foundation:141717788"]}
{"category": ["biolink:Disease"], "description": "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.", "id": "MONDO:0018090", "name": "Double outlet left ventricle", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DOLV", "Double outlet left ventricle", "double outlet left ventricle (disease)"], "xref": ["GARD:0001907", "HP:0011581", "ICD10CM:Q20.2", "ICD9:745.19", "MEDGEN:120558", "NANDO:2100077", "NANDO:2200257", "Orphanet:3427", "SCTID:7368005", "UMLS:C0265809", "icd11.foundation:2094997989"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.", "id": "MONDO:0018091", "name": "Microcephaly-brachydactyly-kyphoscoliosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Viljoen-Kallis-Voges syndrome"], "xref": ["GARD:0005490", "MEDGEN:419731", "MESH:C536349", "Orphanet:3433", "SCTID:719378009", "UMLS:C2931177"]}
{"category": ["biolink:Disease"], "description": "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.", "id": "MONDO:0018092", "name": "Vogt-koyanagi-harada disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Harada's disease", "Uveomenigitic syndrome", "Vogt-Koyanagi syndrome", "uveomeningoencephalitic syndrome"], "xref": ["DOID:12297", "GARD:0007862", "ICD10CM:H20.82", "ICD10CM:H30.81", "ICD9:363.22", "ICD9:364.24", "MEDGEN:22599", "MESH:D014607", "NCIT:C85218", "NORD:1829", "Orphanet:3437", "SCTID:193497004", "UMLS:C0042170"]}
{"category": ["biolink:Disease"], "description": "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.", "id": "MONDO:0018093", "name": "Arbovirus fever", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["arbovirus fever"], "xref": ["GARD:0018690", "MEDGEN:1826163", "Orphanet:344", "UMLS:C1388359"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.", "id": "MONDO:0018094", "name": "Waardenburg syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Waardenburg syndrome", "Waardenburg's syndrome"], "xref": ["DOID:9258", "GARD:0005525", "MEDGEN:473809", "MESH:D014849", "MedDRA:10069203", "NCIT:C85222", "NORD:1832", "OMIMPS:193500", "Orphanet:3440", "SCTID:715952000", "UMLS:C3266898", "icd11.foundation:304883627"]}
{"category": ["biolink:Disease"], "description": "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.", "id": "MONDO:0018095", "name": "Weaver-williams syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005545", "MEDGEN:1392915", "Orphanet:3448", "UMLS:C0796198"]}
{"category": ["biolink:Disease"], "description": "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.", "id": "MONDO:0018096", "name": "Weill-marchesani syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Weill Marchesani Syndrome", "spherophakia-brachymorphia syndrome"], "xref": ["DOID:0050475", "GARD:0004936", "ICD9:759.89", "MEDGEN:82705", "MESH:D056846", "MedDRA:10064963", "NCIT:C85226", "NORD:1842", "OMIMPS:277600", "Orphanet:3449", "SCTID:2884008", "UMLS:C0265313"]}
{"category": ["biolink:Disease"], "description": "A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.", "id": "MONDO:0018097", "name": "Infantile spasms", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IESS", "West syndrome", "West's syndrome", "infantile epileptic spasms syndrome", "infantile spasms", "infantile spasms syndrome", "intellectual disability-hypsarrhythmia syndrome"], "xref": ["DOID:0050562", "GARD:0007887", "ICD9:345.60", "ICD9:348.89", "MEDGEN:11519", "MedDRA:10021750", "NANDO:1200592", "NANDO:2200878", "NCIT:C84788", "NORD:1848", "Orphanet:3451", "Orphanet:697160", "SCTID:28055006", "UMLS:C0037769", "icd11.foundation:1023597213"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.", "id": "MONDO:0018098", "name": "Autosomal dominant limb-girdle muscular dystrophy type 1e (des)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LGMD1E"], "xref": ["GARD:0012529", "MEDGEN:929970", "Orphanet:34517", "UMLS:C4304301"]}
{"category": ["biolink:Disease"], "description": "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.", "id": "MONDO:0018100", "name": "Familial primary hypomagnesemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["familial primary hypomagnesemia"], "xref": ["DOID:0060879", "GARD:0025126", "MEDGEN:57481", "NCIT:C123263", "OMIMPS:602014", "Orphanet:34526", "SCTID:80710001", "UMLS:C0151723"]}
{"category": ["biolink:Disease"], "description": "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.", "id": "MONDO:0018101", "name": "Familial primary hypomagnesemia with normocalciuria and normocalcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025127", "MEDGEN:1390277", "Orphanet:34527", "SCTID:725031005", "UMLS:C4510731"]}
{"category": ["biolink:Disease"], "description": "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.", "id": "MONDO:0018102", "name": "Corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["corneal dystrophy", "corneal dystrophy (disease)"], "xref": ["DOID:2566", "GARD:0027867", "HP:0001131", "ICD9:371.5", "ICD9:371.50", "MEDGEN:3619", "MESH:D003317", "MedDRA:10011005", "NCIT:C34513", "Orphanet:34533", "SCTID:5587004", "UMLS:C0010036", "icd11.foundation:1291475891"]}
{"category": ["biolink:Disease"], "description": "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.", "id": "MONDO:0018103", "name": "Quinquaud's folliculitis decalvans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000373", "ICD9:704.09", "MEDGEN:750617", "Orphanet:346", "SCTID:53593008", "UMLS:C2608043", "icd11.foundation:1454811046"]}
{"category": ["biolink:Disease"], "description": "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).", "id": "MONDO:0018105", "name": "Wolfram syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIDMOAD", "DIDMOAD syndrome", "Wolfram syndrome", "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome", "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome", "diabetes mellitus and insipidus with optic atrophy and deafness"], "xref": ["DOID:10632", "GARD:0007898", "ICD9:250.80", "MEDGEN:21923", "MESH:D014929", "NANDO:1200757", "NCIT:C35133", "Orphanet:3463", "SCTID:70694009", "UMLS:C0043207", "icd11.foundation:151381747"]}
{"category": ["biolink:Disease"], "description": "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.", "id": "MONDO:0018106", "name": "Hereditary xanthinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["classic xanthinuria", "hereditary xanthinuria", "xanthic urolithiasis", "xanthine stone disease"], "xref": ["DOID:0060236", "GARD:0016628", "HP:0010934", "ICD9:277.2", "MEDGEN:1830243", "OMIMPS:278300", "Orphanet:3467", "SCTID:54627004", "UMLS:C5779508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018108", "name": "Idiopathic disseminated cytomegalovirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic disseminated CMV infection"], "xref": ["GARD:0018811", "MEDGEN:1826159", "Orphanet:35062", "UMLS:C5680152"]}
{"category": ["biolink:Disease"], "description": "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.", "id": "MONDO:0018109", "name": "Fulminant viral hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018812", "MEDGEN:547442", "MedDRA:10019772", "Orphanet:35063", "UMLS:C0276624", "icd11.foundation:369649302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018111", "name": "Idiopathic severe pneumococcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:35065"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.", "id": "MONDO:0018115", "name": "Epidermal nevus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Epidermal hamartoma syndrome"], "xref": ["GARD:0018813", "MEDGEN:1847175", "MedDRA:10014985", "Orphanet:35125", "SCTID:239112008", "UMLS:C5848385"]}
{"category": ["biolink:Disease"], "description": "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.", "id": "MONDO:0018116", "name": "Galactosemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["galactosemia"], "xref": ["DOID:9870", "GARD:0002424", "ICD10CM:E74.21", "ICD9:271.1", "MEDGEN:8943", "MESH:D005693", "MedDRA:10017604", "NCIT:C84723", "NORD:1170", "OMIMPS:230400", "Orphanet:352", "SCTID:190745006", "UMLS:C0016952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018117", "name": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021516", "MEDGEN:1843236", "Orphanet:352301", "UMLS:C5680990"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.", "id": "MONDO:0018121", "name": "Mitochondrial dna maintenance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn error of mitochondrial genome maintenance", "inborn mitochondrial genome maintenance disorder", "mtDNA maintenance syndrome", "rare inborn error of mitochondrial genome maintenance"], "xref": ["GARD:0021520", "MEDGEN:1826064", "Orphanet:352456", "UMLS:C5679930"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018122", "name": "Digital anomalies-intellectual disability-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:352487"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.", "id": "MONDO:0018123", "name": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive intellectual disability due to TRAPPC9 deficiency", "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"], "xref": ["GARD:0021521", "MEDGEN:1644787", "Orphanet:352530", "UMLS:C4706414"]}
{"category": ["biolink:Disease"], "description": "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.", "id": "MONDO:0018124", "name": "Oncogenic osteomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Oncogenic hypophosphatemic osteomalacia", "TIO", "tumor-induced osteomalacia"], "xref": ["GARD:0009652", "MEDGEN:226893", "MESH:C537751", "NCIT:C67235", "Orphanet:352540", "SCTID:392559009", "UMLS:C1274103"]}
{"category": ["biolink:Disease"], "description": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.", "id": "MONDO:0018125", "name": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["focal epilepsy-intellectual disability-dysarthria-ataxia syndrome"], "xref": ["GARD:0021522", "MEDGEN:1640999", "Orphanet:352587", "UMLS:C4707306"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.", "id": "MONDO:0018126", "name": "Progressive myoclonic epilepsy with dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PMED", "progressive myoclonus epilepsy with dystonia"], "xref": ["GARD:0017522", "MEDGEN:1642042", "Orphanet:352596", "SCTID:763349002", "UMLS:C4706413"]}
{"category": ["biolink:Disease"], "description": "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).", "id": "MONDO:0018127", "name": "16q24.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(16)(q24.1)", "monosomy 16q24.1"], "xref": ["GARD:0021523", "MEDGEN:1653385", "Orphanet:352629", "UMLS:C4749464"]}
{"category": ["biolink:Disease"], "description": "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.", "id": "MONDO:0018128", "name": "Phalangeal microgeodic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["phalangeal osteolysis"], "xref": ["GARD:0021524", "MEDGEN:1658987", "Orphanet:352636", "UMLS:C4749465"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.", "id": "MONDO:0018129", "name": "Autosomal recessive cerebellar ataxia with late-onset spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive cerebellar ataxia due to GBA2 deficiency"], "xref": ["GARD:0021525", "MEDGEN:1635411", "Orphanet:352641", "SCTID:763348005", "UMLS:C4706412"]}
{"category": ["biolink:Disease"], "description": "An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.", "id": "MONDO:0018130", "name": "Brain dopamine-serotonin vesicular transport disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PKDYS2", "parkinsonism-dystonia, infantile, 2"], "xref": ["DOID:0070490", "GARD:0013594", "MEDGEN:929215", "OMIM:618049", "Orphanet:352649", "SCTID:717942003", "UMLS:C4303546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018131", "name": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["9q21 microdeletion syndrome", "Del(9)(q21)"], "xref": ["GARD:0021526", "MEDGEN:1842292", "Orphanet:352665", "UMLS:C5679925"]}
{"category": ["biolink:Disease"], "description": "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.", "id": "MONDO:0018133", "name": "Attenuated chédiak-higashi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["attenuated Chediak-Higashi syndrome", "atypical Chediak-Higashi syndrome", "atypical Chédiak-Higashi syndrome"], "xref": ["GARD:0021527", "MEDGEN:929691", "Orphanet:352723", "SCTID:720520009", "UMLS:C4304022"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018134", "name": "Disorder of melanin metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021528", "MEDGEN:1842889", "Orphanet:352728", "UMLS:C5680988"]}
{"category": ["biolink:Disease"], "description": "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).", "id": "MONDO:0018135", "name": "Oculocutaneous albinism type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA1", "oculocutaneous albinism type 1"], "xref": ["GARD:0004037", "MEDGEN:82809", "MESH:C537728", "Orphanet:352731", "SCTID:765146000", "UMLS:C0268494"]}
{"category": ["biolink:Disease"], "description": "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.", "id": "MONDO:0018136", "name": "Minimal pigment oculocutaneous albinism type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MP OCA type 1", "OCA1-MP"], "xref": ["GARD:0021529", "ICD9:270.2", "MEDGEN:1842241", "Orphanet:352734", "SCTID:237919007", "UMLS:C5679923"]}
{"category": ["biolink:Disease"], "description": "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).", "id": "MONDO:0018137", "name": "Temperature-sensitive oculocutaneous albinism type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["OCA1-TS", "TS OCA type 1"], "xref": ["GARD:0017530", "MEDGEN:337736", "Orphanet:352737", "UMLS:C1847132"]}
{"category": ["biolink:Disease"], "description": "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.", "id": "MONDO:0018141", "name": "Pyruvate carboxylase deficiency, infantile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["pyruvate carboxylase deficiency type A"], "xref": ["GARD:0017536", "MEDGEN:1842180", "Orphanet:353308", "UMLS:C5679928"]}
{"category": ["biolink:Disease"], "description": "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.", "id": "MONDO:0018142", "name": "Pyruvate carboxylase deficiency, severe neonatal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["pyruvate carboxylase deficiency type B"], "xref": ["GARD:0017537", "MEDGEN:1842956", "Orphanet:353314", "UMLS:C5679929"]}
{"category": ["biolink:Disease"], "description": "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.", "id": "MONDO:0018143", "name": "Pyruvate carboxylase deficiency, benign type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["pyruvate carboxylase deficiency type C"], "xref": ["GARD:0017538", "MEDGEN:1842785", "Orphanet:353320", "UMLS:C5679927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018145", "name": "Congenital retinal arteriovenous communication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital arteriovenous anastomoses of the retina", "congenital arteriovenous communication of the retina", "congenital retinal arteriovenous anastomoses"], "xref": ["GARD:0021530", "MEDGEN:105478", "Orphanet:353334", "UMLS:C0521570"]}
{"category": ["biolink:Disease"], "description": "A rare, acquired, macular telangiectasia characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.", "id": "MONDO:0018146", "name": "Macular telangiectasia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aneurysmal telangiectasia", "idiopathic macular telangiectasia type 1", "visible and exudative idiopathic juxtafoveolar retinal telangiectasis"], "xref": ["GARD:0021531", "MEDGEN:1653394", "Orphanet:353344", "UMLS:C4751437"]}
{"category": ["biolink:Disease"], "description": "A rare, acquired, macular telangiectasia characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.", "id": "MONDO:0018147", "name": "Macular telangiectasia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic macular telangiectasia type 3", "occlusive idiopathic juxtafoveolar retinal telangiectasis"], "xref": ["GARD:0021532", "MEDGEN:1658435", "Orphanet:353351", "UMLS:C4751436"]}
{"category": ["biolink:Disease"], "description": "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.", "id": "MONDO:0018148", "name": "Vasoproliferative tumor of retina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["VPTR", "retinal vasoproliferative tumor", "retinal vasoproliferative tumour", "vasoproliferative tumor of ocular fundus", "vasoproliferative tumor of the ocular fundus", "vasoproliferative tumour of ocular fundus", "vasoproliferative tumour of the ocular fundus"], "xref": ["GARD:0021533", "MEDGEN:1652844", "Orphanet:353356", "UMLS:C4749792"]}
{"category": ["biolink:Disease"], "description": "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.", "id": "MONDO:0018149", "name": "Gm1 gangliosidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Beta-galactosidase-1 deficiency", "GLB1 deficiency", "GM1 gangliosidosis", "Landing disease", "Landing syndrome", "gangliosidosis GM1"], "xref": ["DOID:3322", "GARD:0010891", "ICD9:277.6", "MEDGEN:43107", "MESH:D016537", "NANDO:1200066", "NANDO:2200558", "NCIT:C84739", "Orphanet:354", "SCTID:124465002", "SCTID:238025006", "UMLS:C0085131", "icd11.foundation:401105928"]}
{"category": ["biolink:Disease"], "description": "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).", "id": "MONDO:0018150", "name": "Gaucher disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gaucher disease", "Gaucher syndrome", "acid beta-glucosidase deficiency", "glucocerebrosidase deficiency", "glucocerebrosidosis", "glucosylceramidase deficiency", "glucosylceramide beta-glucosidase deficiency", "lipoid histiocytosis (kerasin type)"], "xref": ["DOID:1926", "GARD:0008233", "ICD10CM:E75.22", "MEDGEN:42164", "MESH:D005776", "MedDRA:10018048", "NANDO:1200056", "NANDO:2200562", "NCIT:C61268", "NORD:1177", "Orphanet:355", "SCTID:190794006", "UMLS:C0017205", "icd11.foundation:1923566939"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.", "id": "MONDO:0018151", "name": "Coenzyme q10 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CoQ10 deficiency", "coenzyme Q10 deficiency disease", "coenzyme Q10 deficiency, primary"], "xref": ["DOID:0050730", "GARD:0010423", "MEDGEN:334528", "MESH:C564403", "NCIT:C142083", "OMIMPS:607426", "Orphanet:35656", "SCTID:724575009", "UMLS:C1843920", "icd11.foundation:1251664337"]}
{"category": ["biolink:Disease"], "description": "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.", "id": "MONDO:0018152", "name": "Serpiginous choroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Choroiditis, Serpiginous", "geographic helicoid peripapillary choroidopathy"], "xref": ["GARD:0000031", "ICD9:363.8", "MEDGEN:152674", "NORD:933", "Orphanet:35686", "SCTID:312491004", "UMLS:C0729842", "icd11.foundation:1404422398"]}
{"category": ["biolink:Disease"], "description": "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.", "id": "MONDO:0018153", "name": "Erdheim-chester disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Erdheim Chester Disease", "Erdheim-Chester disease", "lipogranulomatosis", "polyostotic sclerosing histiocytosis"], "xref": ["DOID:4329", "EFO:1000926", "GARD:0006369", "ICD9:277.89", "MEDGEN:163902", "MESH:D031249", "MedDRA:10060801", "NANDO:2200038", "NCIT:C53972", "NORD:1102", "ONCOTREE:ECD", "Orphanet:35687", "SCTID:699537002", "UMLS:C0878675", "icd11.foundation:1395439137", "icd11.foundation:146718003"]}
{"category": ["biolink:Disease"], "description": "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.", "id": "MONDO:0018154", "name": "Madelung deformity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0012973", "ICD9:755.54", "MEDGEN:57537", "MESH:C562398", "MedDRA:10007700", "Orphanet:35688", "SCTID:4530000", "UMLS:C0152441", "icd11.foundation:1398663515"]}
{"category": ["biolink:Disease"], "description": "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.", "id": "MONDO:0018155", "name": "Lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLS", "adult-onset PLS", "adult-onset primary lateral sclerosis", "primary lateral sclerosis"], "xref": ["DOID:230", "GARD:0010684", "ICD10CM:G12.23", "ICD9:335.24", "MEDGEN:57591", "MedDRA:10036704", "NANDO:1200008", "NCIT:C129933", "Orphanet:35689", "SCTID:81211007", "UMLS:C0154682", "icd11.foundation:1686688462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018156", "name": "3q26q27 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["3q26-q27microdeletion syndrome", "Del(3)(q26q27)", "monosomy 3q26-q27", "monosomy 3q26q27"], "xref": ["GARD:0021534", "MEDGEN:1668723", "Orphanet:356947", "UMLS:C4755255"]}
{"category": ["biolink:Disease"], "description": "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.", "id": "MONDO:0018158", "name": "Mitochondrial dna depletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["mtDNA depletion syndrome"], "xref": ["DOID:0070329", "GARD:0013643", "MEDGEN:452449", "MedDRA:10059396", "NANDO:2200523", "NANDO:2200528", "OMIMPS:603041", "Orphanet:35698", "UMLS:C0342782", "icd11.foundation:1159345506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018159", "name": "Atypical hemolytic-uremic syndrome with dgke deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHUS with DGKE deficiency", "D-HUS with DGKE deficiency", "atypical HUS with DGKE deficiency", "hemolytic-uremic syndrome without diarrhea with DGKE deficiency", "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency"], "xref": ["GARD:0017543", "MEDGEN:1826167", "Orphanet:357008", "UMLS:C5679921"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood.", "id": "MONDO:0018160", "name": "Hereditary retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["RB1", "RB1-related retinoblastoma predisposition", "familial retinoblastoma", "hereditary retinoblastoma", "retinoblastoma, autosomal dominant, somatic mutation", "retinoblastoma, trilateral, autosomal dominant, somatic mutation"], "xref": ["DOID:4648", "GARD:0017544", "MEDGEN:155869", "NCIT:C8495", "OMIM:180200", "Orphanet:357027", "UMLS:C0751483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018161", "name": "Non-hereditary retinoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["EFO:0005717", "GARD:0017545", "MEDGEN:1842255", "Orphanet:357034", "UMLS:C5680987"]}
{"category": ["biolink:Disease"], "description": "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.", "id": "MONDO:0018162", "name": "Neurometabolic disorder due to serine deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["neurometabolic disorder due to serine deficiency", "serine deficiency"], "xref": ["GARD:0018815", "MEDGEN:1842451", "Orphanet:35705", "UMLS:C5680148"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.", "id": "MONDO:0018163", "name": "Autosomal recessive cutis laxa type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCL2A", "autosomal recessive cutis laxa type 2A", "cutis laxa with Joint laxity and retarded development", "cutis laxa with bone dystrophy", "cutis laxa with congenital disorder of glycosylation", "cutis laxa with growth and developmental delay", "cutis laxa, autosomal recessive type 2A", "cutis laxa, autosomal recessive, type 2A", "cutis laxa, autosomal recessive, type IIA", "cutis laxa, debre type"], "xref": ["DOID:0070134", "GARD:0001638", "MEDGEN:82795", "OMIM:219200", "Orphanet:357058", "UMLS:C0268355"]}
{"category": ["biolink:Disease"], "description": "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.", "id": "MONDO:0018164", "name": "Arterial thoracic outlet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ATOS", "arterial TOS", "arterial cervical rib syndrome", "arterial costoclavicular syndrome", "arterial hyperabduction syndrome", "arterial scalenus anticus syndrome", "arterial thoracic outlet compression syndrome"], "xref": ["GARD:0021535", "MEDGEN:365116", "Orphanet:357107", "SCTID:8051000119105", "UMLS:C1956395"]}
{"category": ["biolink:Disease"], "description": "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.", "id": "MONDO:0018165", "name": "Venous thoracic outlet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Paget-Schrotter disease", "VTOS", "Venous TOS", "Venous cervical rib syndrome", "Venous costoclavicular syndrome", "Venous hyperabduction syndrome", "Venous scalenus anticus syndrome", "Venous thoracic outlet compression syndrome", "effort subclavian vein thrombosis"], "xref": ["GARD:0021536", "MEDGEN:408326", "Orphanet:357131", "SCTID:25981000119102", "UMLS:C1956396"]}
{"category": ["biolink:Disease"], "description": "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.", "id": "MONDO:0018166", "name": "Oral submucous fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OSMF", "oral cavity submucous fibrosis", "oral submucosal fibrosis, including of tongue"], "xref": ["DOID:5773", "EFO:1001818", "GARD:0007264", "ICD10CM:K13.5", "ICD9:528.8", "MEDGEN:45213", "MESH:D009914", "NCIT:C34866", "Orphanet:357154", "SCTID:32883009", "UMLS:C0029172", "icd11.foundation:1798376929"]}
{"category": ["biolink:Disease"], "description": "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.", "id": "MONDO:0018167", "name": "Primary essential cutis verticis gyrata", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021537", "MEDGEN:1632625", "Orphanet:357220", "SCTID:765135003", "UMLS:C4707327", "icd11.foundation:895947895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018168", "name": "Primary non-essential cutis verticis gyrata", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021538", "MEDGEN:1653253", "Orphanet:357225", "UMLS:C4755295", "icd11.foundation:129937701"]}
{"category": ["biolink:Disease"], "description": "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.", "id": "MONDO:0018169", "name": "Morning glory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ectasic coloboma", "Volubilis syndrome"], "xref": ["GARD:0013354", "MEDGEN:767635", "MedDRA:10027974", "Orphanet:35737", "UMLS:C3554721"]}
{"category": ["biolink:Disease"], "description": "Nephrotic syndrome for which no cause has been identified.", "id": "MONDO:0018170", "name": "Idiopathic nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021539", "MEDGEN:501252", "NANDO:1200719", "NCIT:C122796", "Orphanet:357502", "UMLS:C3496337"]}
{"category": ["biolink:Disease"], "description": "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.", "id": "MONDO:0018171", "name": "Malignant germ cell tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MOGCT", "malignant germ cell neoplasm of ovary", "malignant germ cell neoplasm of the ovary", "malignant germ cell tumor of ovary", "malignant germ cell tumor of the ovary", "malignant germ cell tumour of the ovary", "malignant ovarian germ cell neoplasm", "malignant ovarian germ cell tumor", "malignant ovarian germ cell tumour", "ovarian germ cell cancer", "ovary malignant germ cell tumor", "ovary malignant germ cell tumour"], "xref": ["DOID:2155", "GARD:0009330", "MEDGEN:87544", "NCIT:C4514", "Orphanet:35807", "SCTID:254869000", "UMLS:C0346180"]}
{"category": ["biolink:Disease"], "description": "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.", "id": "MONDO:0018172", "name": "Malignant sex cord stromal tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["malignant Sex cord-stromal tumor of ovary", "malignant Sex cord-stromal tumor of the ovary", "malignant Sex cord-stromal tumour of ovary", "malignant Sex cord-stromal tumour of the ovary", "malignant ovarian SCST", "malignant ovarian Sex cord-stromal neoplasm", "malignant ovarian Sex cord-stromal tumor", "malignant ovarian Sex cord-stromal tumour", "malignant ovarian sex cord-stromal tumor", "malignant ovarian sex cord-stromal tumour", "ovarian sex cord-stromal tumor, malignant"], "xref": ["GARD:0018816", "MEDGEN:233667", "NCIT:C8053", "Orphanet:35808", "UMLS:C1334609"]}
{"category": ["biolink:Disease"], "description": "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.", "id": "MONDO:0018173", "name": "Acute opioid poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:35889", "icd11.foundation:1395283456"]}
{"category": ["biolink:Disease"], "description": "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.", "id": "MONDO:0018174", "name": "Hereditary glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary glaucoma (disease)"], "xref": ["GARD:0002486", "MEDGEN:777991", "MESH:C580055", "Orphanet:359", "UMLS:C3711383"]}
{"category": ["biolink:Disease"], "description": "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.", "id": "MONDO:0018175", "name": "Combined deficiency of factor v and factor viii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["F5F8D", "FV and FVIII combined deficiency", "combined deficiency of factor V and factor type VIII", "familial multiple coagulation factor deficiency"], "xref": ["GARD:0016639", "MEDGEN:384006", "NANDO:2200686", "Orphanet:35909", "SCTID:715559004", "UMLS:C1856883", "icd11.foundation:184219764"]}
{"category": ["biolink:Disease"], "description": "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)", "id": "MONDO:0018177", "name": "Glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GBM", "GBM (glioblastoma)", "WHO grade IV glioma", "glioblastoma", "glioblastoma (disease)", "glioblastoma multiforme", "glioblastoma multiforme (disease)", "grade IV astrocytic neoplasm", "grade IV astrocytic tumor", "grade IV astrocytic tumour", "grade IV astrocytoma", "spongioblastoma multiforme"], "xref": ["DOID:3068", "EFO:0000519", "GARD:0002491", "HP:0012174", "HP:0100843", "ICDO:9440/3", "MEDGEN:42228", "MESH:D005909", "MedDRA:10018336", "MedDRA:10018337", "NANDO:2200087", "NCIT:C3058", "NORD:1187", "ONCOTREE:GB", "ONCOTREE:GBM", "Orphanet:360", "SCTID:393563007", "UMLS:C0017636"]}
{"category": ["biolink:Disease"], "description": "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.", "id": "MONDO:0018178", "name": "Intestinal lymphangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["intestinal lymphangiectasia", "intestinal lymphangiectasia (disease)"], "xref": ["GARD:0012331", "HP:0002593", "ICD9:457.1", "MEDGEN:9828", "MedDRA:10025213", "NANDO:2100256", "NANDO:2200914", "Orphanet:36204", "SCTID:197260007", "UMLS:C0024215", "icd11.foundation:1255239964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018180", "name": "Staphylococcal scarlet fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018819", "MEDGEN:1853264", "Orphanet:36235", "UMLS:C5848379", "icd11.foundation:449652676"]}
{"category": ["biolink:Disease"], "description": "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.", "id": "MONDO:0018181", "name": "Staphylococcal scalded skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ritter disease", "Ritter's disease", "SSSS", "generalised exfoliative disease", "generalized exfoliative disease", "staphylococcal scalded skin syndrome"], "xref": ["DOID:9063", "EFO:0007473", "GARD:0013158", "ICD10CM:L00", "ICD10WHO:L00", "ICD9:695.81", "MEDGEN:52484", "MESH:D013206", "MedDRA:10041929", "NCIT:C85077", "NORD:1781", "Orphanet:36236", "SCTID:200946001", "SCTID:277475006", "UMLS:C0038165", "icd11.foundation:1554593739"]}
{"category": ["biolink:Disease"], "description": "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.", "id": "MONDO:0018182", "name": "Bullous impetigo", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018820", "ICD10CM:L01.03", "MEDGEN:507838", "MedDRA:10006563", "Orphanet:36237", "SCTID:399183005", "UMLS:C0021100", "icd11.foundation:1398484288"]}
{"category": ["biolink:Disease"], "description": "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.", "id": "MONDO:0018183", "name": "Staphylococcal necrotizing pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018821", "MEDGEN:1637863", "Orphanet:36238", "SCTID:763888005", "UMLS:C4706659"]}
{"category": ["biolink:Disease"], "description": "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.", "id": "MONDO:0018184", "name": "Gastric linitis plastica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Borrmann gastric cancer type 4", "leather-bottle stomach", "linitis plastica", "linitis plastica (morphologic abnormality)", "linitis plastica of the stomach"], "xref": ["DOID:4023", "GARD:0018822", "ICDO:8142/3", "MEDGEN:7345", "MESH:D008039", "NCIT:C3190", "Orphanet:36273", "SCTID:721629005", "UMLS:C0023743", "icd11.foundation:1165754036"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.", "id": "MONDO:0018189", "name": "Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017556", "MEDGEN:1644588", "Orphanet:363429", "UMLS:C4706388"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018190", "name": "Autosomal dominant childhood-onset proximal spinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMALED", "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy"], "xref": ["DOID:0070348", "GARD:0017559", "MEDGEN:322470", "OMIMPS:158600", "Orphanet:363447", "UMLS:C1834690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018192", "name": "Paratesticular adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adenocarcinoma of paratestis", "adenocarcinoma of the paratestis"], "xref": ["GARD:0021550", "MEDGEN:1678623", "Orphanet:363478", "UMLS:C5190800"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018193", "name": "Testicular teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["teratoma of testis", "teratoma of the testis", "testicular teratoma", "testicular teratoma (disease)"], "xref": ["EFO:1000573", "GARD:0017560", "HP:0100616", "MEDGEN:68669", "NCIT:C3877", "Orphanet:363483", "UMLS:C0238451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018197", "name": "Mitochondrial dna depletion syndrome, hepatocerebrorenal form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mtDNA depletion syndrome, hepatocerebrorenal form"], "xref": ["GARD:0017564", "MEDGEN:1674910", "Orphanet:363534", "UMLS:C5190602"]}
{"category": ["biolink:Disease"], "description": "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.", "id": "MONDO:0018198", "name": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AESD", "AIEF", "acute infantile encephalopathy predominantly affecting the frontal lobes"], "xref": ["GARD:0021552", "MEDGEN:1645136", "NANDO:1200552", "NANDO:2100247", "NANDO:2200901", "Orphanet:363549", "SCTID:766044005", "UMLS:C4707658"]}
{"category": ["biolink:Disease"], "description": "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.", "id": "MONDO:0018199", "name": "New-onset refractory status epilepticus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NORSE", "Norse"], "xref": ["GARD:0012244", "MEDGEN:1657271", "Orphanet:363558", "UMLS:C4749462"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).", "id": "MONDO:0018201", "name": "Extragonadal germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["extragonadal germ cell neoplasm", "extragonadal germ cell neoplasms", "extragonadal germ cell tumor", "neoplasm of extragonadal germ cell", "neoplasm of the extragonadal germ cell", "primary extragonadal germ cell tumor", "primary extragonadal germ cell tumour", "tumor of extragonadal germ cell", "tumor of the extragonadal germ cell", "tumour of extragonadal germ cell", "tumour of the extragonadal germ cell"], "xref": ["GARD:0009325", "MEDGEN:75506", "NCIT:C3918", "Orphanet:363579", "UMLS:C0262963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018202", "name": "Gonadal germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021554", "Orphanet:363582"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.", "id": "MONDO:0018203", "name": "Lmna-related cardiocutaneous progeria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCPS"], "xref": ["GARD:0021555", "MEDGEN:1667690", "Orphanet:363618", "UMLS:C4750858"]}
{"category": ["biolink:Disease"], "description": "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.", "id": "MONDO:0018204", "name": "20q11.2 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["dup(20)(q11.2)"], "xref": ["GARD:0021556", "MEDGEN:1639138", "Orphanet:363659", "SCTID:763061004", "UMLS:C4706257"]}
{"category": ["biolink:Disease"], "description": "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.", "id": "MONDO:0018205", "name": "Distal monosomy 1q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal deletion 1q", "distal monosomy type 1q", "monosomy 1qter", "telomeric deletion 1q"], "xref": ["GARD:0016640", "MEDGEN:900126", "Orphanet:36367", "SCTID:717633007", "UMLS:C4273897"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper  lower, proximal  distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.", "id": "MONDO:0018206", "name": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017568", "MEDGEN:1673410", "Orphanet:363677", "UMLS:C5192594"]}
{"category": ["biolink:Disease"], "description": "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.", "id": "MONDO:0018207", "name": "2p13.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(2)(p13.2)"], "xref": ["GARD:0021557", "MEDGEN:1662313", "Orphanet:363680", "UMLS:C4749460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018208", "name": "Neurofibromatosis type 1 due to nf1 mutation or intragenic deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Von Recklinghausen disease due to NF1 mutation or intragenic deletion"], "xref": ["GARD:0017570", "MEDGEN:1842855", "Orphanet:363700", "UMLS:C5779636"]}
{"category": ["biolink:Disease"], "description": "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.", "id": "MONDO:0018209", "name": "Alexander disease type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AxD type I"], "xref": ["GARD:0017572", "MEDGEN:1820954", "NANDO:1200555", "Orphanet:363717", "UMLS:C5769581"]}
{"category": ["biolink:Disease"], "description": "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.", "id": "MONDO:0018210", "name": "Alexander disease type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AxD type II"], "xref": ["GARD:0017573", "MEDGEN:1842714", "NANDO:1200556", "Orphanet:363722", "UMLS:C5679914"]}
{"category": ["biolink:Disease"], "description": "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.", "id": "MONDO:0018211", "name": "Balint syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Balint-Holmes syndrome", "optic ataxia-gaze apraxia-simultanagnosia syndrome", "psychic paralysis of visual fixation"], "xref": ["GARD:0021558", "MEDGEN:1646315", "Orphanet:363746", "SCTID:765212008", "UMLS:C4707368", "icd11.foundation:491228434"]}
{"category": ["biolink:Disease"], "description": "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0018212", "name": "Familial cervical artery dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial CAD", "hereditary CAD", "hereditary cervical artery dissection"], "xref": ["GARD:0018823", "MEDGEN:1659372", "Orphanet:36382", "UMLS:C4755308"]}
{"category": ["biolink:Disease"], "description": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.", "id": "MONDO:0018213", "name": "Hereditary sensory and autonomic neuropathy type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN1", "Hereditary Sensory Neuropathy Type I", "hereditary sensory and autonomic neuropathy type I"], "xref": ["DOID:0070162", "GARD:0006635", "MEDGEN:5645", "NORD:1237", "Orphanet:36386", "PMID:18348718", "SCTID:397734008", "UMLS:C0020071", "icd11.foundation:1989773046"]}
{"category": ["biolink:Disease"], "description": "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).", "id": "MONDO:0018214", "name": "Generalized epilepsy with febrile seizures plus", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GEFS+", "epilepsy, generalized, with febrile seizures plus", "generalised epilepsy with febrile seizures-plus", "generalized epilepsy with febrile seizures plus", "genetic epilepsy with febrile seizures plus", "genetic epilepsy with febrile seizures-plus"], "xref": ["DOID:0060170", "GARD:0018641", "MEDGEN:503203", "MESH:C565808", "NCIT:C122811", "OMIMPS:604233", "Orphanet:36387", "SCTID:699688008", "UMLS:C3502809"]}
{"category": ["biolink:Disease"], "description": "A paraneoplastic syndrome that involves the nervous system.", "id": "MONDO:0018215", "name": "Paraneoplastic neurologic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PCD", "PNS", "nervous system paraneoplastic syndrome", "paraneoplastic syndrome of nervous system"], "xref": ["GARD:0007326", "ICD9:331.89", "MEDGEN:155656", "MedDRA:10072106", "Orphanet:36388", "SCTID:192877007", "UMLS:C0751911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018216", "name": "Koolen-de vries syndrome due to 17q21.31 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["17q21.31 recurrent microdeletion syndrome", "Del(17)(q21.31)", "monosomy 17q21.31"], "xref": ["DECIPHER:57", "DOID:0050880", "DOID:0070076", "GARD:0017576", "MESH:C566476", "Orphanet:363958", "SCTID:717338006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018217", "name": "Koolen-de vries syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021559", "MEDGEN:1843302", "Orphanet:363965", "UMLS:C5680974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018218", "name": "Autosomal recessive cerebral atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021560", "MEDGEN:1653890", "Orphanet:363969", "UMLS:C4755252"]}
{"category": ["biolink:Disease"], "description": "Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.", "id": "MONDO:0018221", "name": "Immune hydrops fetalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["IHF", "immune HF", "immune fetal edema", "immune fetal hydrops", "immune foetal hydrops", "immune foetal oedema"], "xref": ["GARD:0021561", "ICD9:773.3", "MEDGEN:105328", "NCIT:C111904", "Orphanet:364013", "SCTID:15539009", "UMLS:C0455990", "icd11.foundation:1589938690"]}
{"category": ["biolink:Disease"], "description": "A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.", "id": "MONDO:0018223", "name": "Systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["systemic EBV+ T-cell LPD of childhood", "systemic EBV-positive T-cell lymphoma of childhood", "systemic EBV-positive T-cell lymphoproliferative disease of childhood", "systemic EBV-positive T-cell lymphoproliferative disorder of childhood"], "xref": ["DOID:0070324", "GARD:0021562", "ICDO:9724/3", "MEDGEN:397492", "NCIT:C80374", "Orphanet:364033", "SCTID:721311006", "UMLS:C2699747"]}
{"category": ["biolink:Disease"], "description": "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.", "id": "MONDO:0018224", "name": "Hydroa vacciniforme-like lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HVLL", "angiocentric cutaneous T-cell lymphoma of childhood", "hV-like lymphoma", "hydroa vacciniforme-like cutaneous T-cell lymphoma", "hydroa vacciniforme-like lymphoma", "hydroa vacciniforme-like lymphoproliferative disorder", "hydroa-like cutaneous T-cell lymphoma"], "xref": ["GARD:0021563", "ICDO:9725/3", "MEDGEN:317758", "NCIT:C45327", "Orphanet:364039", "SCTID:763719001", "UMLS:C1708397"]}
{"category": ["biolink:Disease"], "description": "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.", "id": "MONDO:0018225", "name": "Alk-positive large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ALK+ LBCL", "ALK+ large B-cell lymphoma", "ALK-DLBCL", "ALK-positive large B-cell lymphoma", "diffuse large B-cell lymphoma with expression of full-length ALK", "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase"], "xref": ["GARD:0021564", "ICDO:9737/3", "MEDGEN:232429", "NCIT:C7225", "Orphanet:364043", "SCTID:715950008", "UMLS:C1333294", "icd11.foundation:2077559619"]}
{"category": ["biolink:Disease"], "description": "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.", "id": "MONDO:0018226", "name": "Infantile epileptic-dyskinetic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017582", "MEDGEN:1637882", "MESH:C567924", "Orphanet:364063", "UMLS:C4552072"]}
{"category": ["biolink:Disease"], "description": "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.", "id": "MONDO:0018227", "name": "Hypocomplementemic urticarial vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mac Duffie hypocomplementemic urticarial vasculitis", "Mac Duffie syndrome", "McDuffie hypocomplementemic urticarial vasculitis", "McDuffie syndrome", "anti-C1q vasculitis"], "xref": ["GARD:0006725", "MEDGEN:83360", "Orphanet:36412", "SCTID:239945009", "UMLS:C0343206", "icd11.foundation:629572966"]}
{"category": ["biolink:Disease"], "description": "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.", "id": "MONDO:0018228", "name": "Bipartite talus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021566", "MEDGEN:1631166", "Orphanet:364198", "SCTID:763128009", "UMLS:C4706298"]}
{"category": ["biolink:Disease"], "description": "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.", "id": "MONDO:0018229", "name": "Stevens-johnson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Dermatostomatitis, Stevens Johnson type", "Stevens Johnson syndrome"], "xref": ["DOID:0050426", "EFO:0004276", "GARD:0007700", "ICD10CM:L51.1", "ICD9:695.12", "ICD9:695.13", "MEDGEN:20955", "MESH:D013262", "MedDRA:10042033", "NANDO:1200245", "NANDO:2100290", "NANDO:2201006", "NCIT:C79484", "OMIM:608579", "Orphanet:36426", "SCTID:73442001", "UMLS:C0038325", "icd11.foundation:450167795"]}
{"category": ["biolink:Disease"], "description": "Any Mendelian diseases that affects growth and development of the skeleton.", "id": "MONDO:0018230", "name": "Skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia"], "xref": ["MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528"]}
{"category": ["biolink:Disease"], "description": "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.", "id": "MONDO:0018233", "name": "Otopalatodigital syndrome spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["OPD spectrum disorder", "OPSD"], "xref": ["DOID:0111782", "GARD:0021570", "MEDGEN:411701", "Orphanet:364541", "UMLS:C2748918"]}
{"category": ["biolink:Disease"], "description": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.", "id": "MONDO:0018234", "name": "Dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["dysostosis"], "xref": ["DOID:1934", "ICD9:756.9", "MEDGEN:4430", "MESH:D004413", "NCIT:C34560", "Orphanet:364559", "SCTID:109420003", "UMLS:C0013393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018237", "name": "Acrofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060379", "GARD:0021574", "MEDGEN:272278", "NCIT:C35795", "Orphanet:364574", "UMLS:C1332140", "icd11.foundation:1702160042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018240", "name": "Trpv4-related bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TRPV4-related skeletal dysplasia"], "xref": ["GARD:0021577", "MEDGEN:1842686", "NANDO:2201021", "Orphanet:364820", "UMLS:C5680977"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of hypoparathyroidism.", "id": "MONDO:0018242", "name": "Autoimmune hypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autoimmune hypoparathyroidism", "autoimmune hypoparathyroidism (disease)"], "xref": ["GARD:0018824", "HP:0011771", "MEDGEN:488838", "Orphanet:36913", "SCTID:75316000", "UMLS:C0271865", "icd11.foundation:1790437089"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018243", "name": "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021579", "MEDGEN:1683856", "Orphanet:369847", "UMLS:C5192595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018244", "name": "Obesity due to sim1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021580", "MEDGEN:1680592", "Orphanet:369873", "UMLS:C5191050"]}
{"category": ["biolink:Disease"], "description": "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.", "id": "MONDO:0018245", "name": "2p21 microdeletion syndrome without cystinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(2)(p21) without cystinuria"], "xref": ["GARD:0021581", "MEDGEN:1666351", "Orphanet:369881", "UMLS:C4749458"]}
{"category": ["biolink:Disease"], "description": "CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).", "id": "MONDO:0018247", "name": "Cadds", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CADDS", "Zellweger-like contiguous gene deletion syndrome", "contiguous ABCD1 DXS1357E deletion syndrome"], "xref": ["GARD:0012472", "Orphanet:369942"]}
{"category": ["biolink:Disease"], "description": "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.", "id": "MONDO:0018248", "name": "Intellectual disability-seizures-macrocephaly-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["12)", "Der(8)t(8"], "xref": ["GARD:0021583", "MEDGEN:1650833", "Orphanet:369950", "UMLS:C4749455"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018249", "name": "Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021584", "MEDGEN:1673147", "Orphanet:369979", "UMLS:C5190599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018250", "name": "Diffuse palmoplantar keratoderma with painful fissures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017595", "MEDGEN:1660049", "Orphanet:369999", "UMLS:C4755309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018252", "name": "Focal palmoplantar keratoderma with joint keratoses", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017596", "MEDGEN:1667811", "Orphanet:370002", "UMLS:C4755302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018253", "name": "Intellectual disability-facial dysmorphism-hand anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021585", "MEDGEN:1655582", "Orphanet:370010", "UMLS:C4750848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018254", "name": "Spondyloepimetaphyseal dysplasia, isidor type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021586", "MEDGEN:1676518", "Orphanet:370015", "UMLS:C5190629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018255", "name": "Spondylometaphyseal dysplasia, czarny-ratajczak type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0021587", "Orphanet:370019"]}
{"category": ["biolink:Disease"], "description": "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.", "id": "MONDO:0018256", "name": "Acute myeloid leukemia with t(8;16)(p11;p13) translocation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["16)(p11", "AML with t(8", "p13) translocation"], "xref": ["DOID:0070630", "GARD:0021588", "MEDGEN:1376688", "NCIT:C200421", "Orphanet:370026", "SCTID:725390002", "UMLS:C4511003"]}
{"category": ["biolink:Disease"], "description": "An instance of syringomyelia that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0018257", "name": "Familial syringomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["hereditary syringomyelia"], "xref": ["GARD:0021589", "MEDGEN:1842994", "Orphanet:370034", "UMLS:C5680970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018258", "name": "Angora hair nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Schauder syndrome"], "xref": ["GARD:0021590", "MEDGEN:1667925", "Orphanet:370039", "UMLS:C4751601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018259", "name": "Didymosis aplasticosebacea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aplasia cutis congenita-nevus sebaceus syndrome"], "xref": ["GARD:0021591", "MEDGEN:1650408", "Orphanet:370046", "UMLS:C4751600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018260", "name": "Scalp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome", "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome"], "xref": ["GARD:0021592", "MEDGEN:1665599", "Orphanet:370052", "UMLS:C4751599"]}
{"category": ["biolink:Disease"], "description": "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.", "id": "MONDO:0018261", "name": "Nevada syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nevus epidermicus verrucosus with angiodysplasia and aneurysms"], "xref": ["GARD:0021593", "MEDGEN:1667994", "Orphanet:370059", "UMLS:C4751431"]}
{"category": ["biolink:Disease"], "description": "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.", "id": "MONDO:0018263", "name": "Fetal carbamazepine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["ICD9:760.8", "MEDGEN:609479", "Orphanet:370076", "SCTID:254249002", "UMLS:C0432370"]}
{"category": ["biolink:Disease"], "description": "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.", "id": "MONDO:0018264", "name": "Oculocutaneous albinism type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCA6"], "xref": ["DOID:0080614", "GARD:0017599", "MEDGEN:811705", "OMIM:113750", "Orphanet:370097", "SCTID:722058005", "UMLS:C3805375"]}
{"category": ["biolink:Disease"], "description": "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.", "id": "MONDO:0018266", "name": "Ataxia - telangiectasia variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["v-AT"], "xref": ["GARD:0021597", "MEDGEN:406286", "Orphanet:370109", "UMLS:C1876175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018267", "name": "Combined cervical dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025128", "Orphanet:370114"]}
{"category": ["biolink:Disease"], "description": "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.", "id": "MONDO:0018268", "name": "Medich giant platelet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Medich macrothrombocytopenia"], "xref": ["GARD:0021598", "MEDGEN:931044", "Orphanet:370127", "SCTID:718554005", "UMLS:C4305375"]}
{"category": ["biolink:Disease"], "description": "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.", "id": "MONDO:0018269", "name": "White platelet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009282", "MEDGEN:419379", "MESH:C536702", "Orphanet:370131", "SCTID:718553004", "UMLS:C2931293"]}
{"category": ["biolink:Disease"], "description": "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.", "id": "MONDO:0018270", "name": "Extraskeletal ewing sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EOE", "Extra-osseous Ewing's sarcoma", "extraosseous Ewing sarcoma", "extraosseous Ewing tumor", "extraosseous Ewing tumour", "extraosseous Ewing's sarcoma", "extraosseous Ewing's tumor", "extraosseous Ewing's tumour", "extraskeletal Ewing sarcoma", "extraskeletal Ewing tumor", "extraskeletal Ewing tumour", "extraskeletal Ewing's sarcoma"], "xref": ["DOID:4232", "GARD:0017600", "MEDGEN:76053", "NCIT:C7135", "Orphanet:370334", "UMLS:C0279980", "icd11.foundation:489162074"]}
{"category": ["biolink:Disease"], "description": "A small round cell tumor with neural differentiation arising from the soft tissues or bone.", "id": "MONDO:0018271", "name": "Peripheral primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPNET", "pPNET", "peripheral PNET", "peripheral neuroectodermal neoplasm", "peripheral neuroectodermal tumor", "peripheral neuroectodermal tumour", "peripheral neuroepithelioma", "peripheral primitive neuroectodermal neoplasm", "peripheral primitive neuroectodermal tumor"], "xref": ["GARD:0017601", "ICDO:9364/3", "MEDGEN:151926", "NANDO:2200054", "NANDO:2200055", "NCIT:C9341", "Orphanet:370348", "UMLS:C0684337"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018273", "name": "Xylt1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation", "XYLT1-congenital disorder of glycosylation", "XYLT18-CDG"], "xref": ["GARD:0021599", "MEDGEN:1659170", "Orphanet:370930", "UMLS:C4750849"]}
{"category": ["biolink:Disease"], "description": "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.", "id": "MONDO:0018274", "name": "Gm3 synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Amish infantile epilepsy syndrome", "GM3 synthase deficiency", "SPDRS", "ST3GAL5-CDG", "disorder of lactosylceramide alpha-2,3-sialyltransferase activity", "epilepsy syndrome, infantile-onset symptomatic", "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness", "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome", "lactosylceramide alpha-2,3-sialyltransferase activity disease", "salt & pepper syndrome", "salt and pepper developmental regression syndrome"], "xref": ["DOID:0060470", "GARD:0012059", "MEDGEN:323005", "OMIM:609056", "Orphanet:171714", "Orphanet:370933", "Orphanet:370938", "SCTID:722762005", "UMLS:C1836824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018276", "name": "Muscular dystrophy-dystroglycanopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMD due to dystroglycanopathy", "muscular dystrophy-dystroglycanopathy"], "xref": ["DOID:0112374", "GARD:0012584", "MEDGEN:1842215", "Orphanet:370953", "UMLS:C5679911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018278", "name": "Congenital muscular dystrophy with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMD with intellectual disability", "CMD-MR"], "xref": ["GARD:0017606", "MEDGEN:1683413", "Orphanet:370968", "UMLS:C5190846"]}
{"category": ["biolink:Disease"], "description": "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.", "id": "MONDO:0018280", "name": "Muscle-eye-brain disease with bilateral multicystic leucodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEB disease with bilateral multicystic leucodystrophy"], "xref": ["GARD:0017608", "MEDGEN:1675257", "Orphanet:370997", "UMLS:C5191414"]}
{"category": ["biolink:Disease"], "description": "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.", "id": "MONDO:0018281", "name": "Congenital muscular dystrophy with hyperlaxity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMDH"], "xref": ["GARD:0021600", "MEDGEN:1633415", "Orphanet:371007", "SCTID:763314009", "UMLS:C4706389"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018282", "name": "Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["alpha-dystroglycanopathy", "dystroglycanopathy", "qualitative or quantitative defects of alpha-dystroglycan"], "xref": ["GARD:0021601", "MEDGEN:423526", "Orphanet:371024", "UMLS:C2936406"]}
{"category": ["biolink:Disease"], "description": "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.", "id": "MONDO:0018298", "name": "Multicentric osteolysis-nodulosis-arthropathy spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MONA spectrum"], "xref": ["GARD:0017610", "MEDGEN:342428", "Orphanet:371428", "SCTID:716868003", "UMLS:C1850155"]}
{"category": ["biolink:Disease"], "description": "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.", "id": "MONDO:0018301", "name": "Interstitial cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IC/BPS", "IC/PBS", "bladder pain syndrome", "chronic interstitial cystitis", "interstitial cystitis, chronic", "interstitial cystitis/bladder pain syndrome", "interstitial cystitis/painful bladder syndrome", "painful bladder syndrome"], "xref": ["DOID:13949", "DOID:1678", "EFO:0008507", "GARD:0018825", "ICD10CM:N30.1", "ICD9:595.1", "MEDGEN:129176", "MESH:D018856", "MedDRA:10008927", "MedDRA:10011796", "NANDO:1200743", "NCIT:C27189", "Orphanet:37202", "SCTID:111409009", "SCTID:197834003", "UMLS:C0282488", "icd11.foundation:1650709285"]}
{"category": ["biolink:Disease"], "description": "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.", "id": "MONDO:0018302", "name": "Acquired kinky hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018826", "MEDGEN:537918", "Orphanet:37559", "UMLS:C0263486"]}
{"category": ["biolink:Disease"], "description": "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.", "id": "MONDO:0018304", "name": "Schnitzler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chronic urticaria with gammopathy", "chronic urticaria with macroglobulinemia"], "xref": ["DOID:4371", "EFO:1001165", "GARD:0012390", "ICD9:708.8", "MEDGEN:141892", "MESH:D019873", "MedDRA:10062908", "NORD:1696", "Orphanet:37748", "SCTID:402415001", "UMLS:C0524988", "icd11.foundation:1867840545"]}
{"category": ["biolink:Disease"], "description": "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.", "id": "MONDO:0018305", "name": "Chronic granulomatous disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CGD", "chronic septic granulomatosis"], "xref": ["DOID:3265", "GARD:0006100", "MEDGEN:5377", "MESH:D006105", "MedDRA:10008906", "NANDO:1200357", "NANDO:2200757", "NCIT:C26788", "NORD:968", "OMIMPS:306400", "Orphanet:379", "SCTID:387759001", "UMLS:C0018203", "icd11.foundation:1329764681"]}
{"category": ["biolink:Disease"], "description": "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).", "id": "MONDO:0018306", "name": "Griscelli syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ChC)diak-Higashi-like syndrome", "Chédiak-Higashi-like syndrome", "Ch��diak-Higashi-like syndrome", "Griscelli-PruniC)ras syndrome", "Griscelli-Pruniéras syndrome", "Griscelli-Pruni��ras syndrome", "partial albinism-immunodeficiency syndrome"], "xref": ["DOID:0060831", "GARD:0010913", "ICD9:270.2", "MEDGEN:585090", "NANDO:1200640", "OMIMPS:214450", "Orphanet:381", "SCTID:37548006", "UMLS:C0398794"]}
{"category": ["biolink:Disease"], "description": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.", "id": "MONDO:0018307", "name": "Neurodegeneration with brain iron accumulation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NBIA", "neurodegeneration with brain iron accumulation"], "xref": ["DOID:0110734", "GARD:0011899", "MEDGEN:444156", "MESH:C538421", "NANDO:2100241", "OMIMPS:234200", "Orphanet:385", "UMLS:C2931845", "icd11.foundation:440483530"]}
{"category": ["biolink:Disease"], "description": "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.", "id": "MONDO:0018308", "name": "Liver mesenchymal hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MHL", "VMC", "Von Meyenburg complexes disease", "biliary hamartoma", "hepatic mesenchymal hamartoma", "liver MH", "liver mesenchymal hamartoma", "mesenchymal hamartoma of liver", "mesenchymal hamartoma of the liver"], "xref": ["GARD:0002651", "MEDGEN:232278", "NCIT:C5751", "Orphanet:386", "SCTID:715397000", "UMLS:C1333971", "icd11.foundation:1416010483"]}
{"category": ["biolink:Disease"], "description": "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.", "id": "MONDO:0018309", "name": "Hirschsprung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSCR", "Hirschsprung disease", "Hirschsprung disease susceptibility", "Hirschsprung's disease", "aganglionic megacolon", "congenital intestinal aganglionosis", "congenital megacolon", "pelvirectal achalasia"], "xref": ["DOID:10487", "GARD:0006660", "ICD10CM:Q43.1", "MEDGEN:5559", "MESH:D006627", "MedDRA:10010539", "NANDO:1200903", "NANDO:2200945", "NANDO:2200948", "NCIT:C34700", "NORD:1244", "OMIMPS:142623", "Orphanet:388", "SCTID:204739008", "UMLS:C0019569", "icd11.foundation:1772690306"]}
{"category": ["biolink:Disease"], "description": "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.", "id": "MONDO:0018310", "name": "Langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCH", "Langerhans cell granulomatosis", "Langerhans cell histiocytosis", "Langerhans cell histiocytosis, NOS", "Langerhans cell histiocytosis, Not otherwise specified", "histiocytosis X"], "xref": ["DOID:2571", "EFO:1000318", "GARD:0006858", "ICD9:202.5", "ICD9:277.89", "ICDO:9751/1", "ICDO:9751/3", "ICDO:9752/1", "ICDO:9753/1", "ICDO:9754/3", "MEDGEN:5568", "MedDRA:10069698", "NANDO:2200031", "NCIT:C3107", "NORD:1348", "OMIM:604856", "ONCOTREE:LCH", "Orphanet:389", "SCTID:65399007", "UMLS:C0019621", "icd11.foundation:1388720498", "icd11.foundation:216625985"]}
{"category": ["biolink:Disease"], "description": "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.", "id": "MONDO:0018311", "name": "Acromelanosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004500", "ICD9:709.09", "MEDGEN:98038", "Orphanet:39", "SCTID:239089006", "UMLS:C0406779"]}
{"category": ["biolink:Disease"], "description": "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.", "id": "MONDO:0018312", "name": "Histoplasmosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Histoplasma caused disease or disorder", "Histoplasma disease or disorder", "Histoplasma infectious disease", "darling disease"], "xref": ["DOID:1731", "EFO:0007310", "GARD:0018692", "ICD10CM:B39", "ICD10WHO:B39", "ICD9:115", "ICD9:115.9", "ICD9:115.90", "ICD9:115.99", "MEDGEN:42468", "MESH:D006660", "MedDRA:10020141", "MedDRA:10021808", "NCIT:C77201", "Orphanet:390", "SCTID:12962009", "UMLS:C0019655", "icd11.foundation:1303003466", "icd11.foundation:1553838370"]}
{"category": ["biolink:Disease"], "description": "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.", "id": "MONDO:0018314", "name": "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021619", "MEDGEN:1654958", "Orphanet:391316", "UMLS:C4750853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018315", "name": "X-linked osteoporosis with fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017614", "MEDGEN:1674557", "Orphanet:391330", "UMLS:C5190610"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018316", "name": "Fatal post-viral neurodegenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021620", "MEDGEN:1657472", "Orphanet:391343", "UMLS:C4751597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018317", "name": "Growth retardation-mild developmental delay-chronic hepatitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021621", "MEDGEN:1654119", "Orphanet:391366", "UMLS:C4751595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018319", "name": "Familial episodic pain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FEPS"], "xref": ["DOID:0111728", "GARD:0012684", "MEDGEN:1682682", "OMIMPS:615040", "Orphanet:391384", "UMLS:C5190598"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018320", "name": "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017620", "MEDGEN:1675765", "Orphanet:391408", "UMLS:C5190597"]}
{"category": ["biolink:Disease"], "description": "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.", "id": "MONDO:0018321", "name": "Atypical juvenile parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017621", "MEDGEN:1380105", "Orphanet:391411", "SCTID:725146001", "UMLS:C4510873"]}
{"category": ["biolink:Disease"], "description": "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.", "id": "MONDO:0018322", "name": "Hsd10 disease, infantile type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["2-methyl-3-hydroxybutyric aciduria, classic type", "2-methyl-3-hydroxybutyric aciduria, infantile type", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type", "HSD10 deficiency, classic type", "HSD10 deficiency, infantile type", "HSD10 disease, classic type", "MHBD deficiency, classic type", "MHBD deficiency, infantile type"], "xref": ["GARD:0017622", "MEDGEN:1843150", "Orphanet:391428", "UMLS:C5680025"]}
{"category": ["biolink:Disease"], "description": "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.", "id": "MONDO:0018323", "name": "Hsd10 disease, neonatal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["2-methyl-3-hydroxybutyric aciduria, neonatal type", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type", "HSD10 deficiency, neonatal type", "MHBD deficiency, neonatal type"], "xref": ["GARD:0017623", "MEDGEN:1842355", "Orphanet:391457", "UMLS:C5680026"]}
{"category": ["biolink:Disease"], "description": "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.", "id": "MONDO:0018324", "name": "Adult-onset myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["adult-onset acquired myasthenia", "adult-onset autoimmune myasthenia gravis"], "xref": ["EFO:1001490", "GARD:0021623", "MEDGEN:1843050", "Orphanet:391490", "UMLS:C5680024"]}
{"category": ["biolink:Disease"], "description": "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.", "id": "MONDO:0018325", "name": "Juvenile myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["childhood myasthenia gravis", "juvenile acquired myasthenia", "juvenile autoimmune myasthenia gravis", "myasthenia gravis of childhood", "paediatric myasthenia gravis", "pediatric myasthenia gravis"], "xref": ["GARD:0021624", "MEDGEN:1842990", "Orphanet:391497", "UMLS:C5680023"]}
{"category": ["biolink:Disease"], "description": "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.", "id": "MONDO:0018326", "name": "Transient neonatal myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NMG", "transient neonatal acquired myasthenia", "transient neonatal autoimmune myasthenia gravis"], "xref": ["GARD:0021625", "ICD10CM:P94.0", "MEDGEN:96918", "NCIT:C117308", "Orphanet:391504", "UMLS:C0495465", "icd11.foundation:2096990223"]}
{"category": ["biolink:Disease"], "description": "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.", "id": "MONDO:0018327", "name": "Glomus tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["glomus neoplasm", "glomus tumor"], "xref": ["DOID:2431", "GARD:0021626", "ICD9:239.7", "ICDO:8711/0", "MEDGEN:4903", "MESH:D005918", "NCIT:C3060", "Orphanet:391651", "SCTID:403969002", "UMLS:C0017653"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018328", "name": "Homozygous familial hypercholesterolemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HoFH", "homozygous familial hypercholesterolemia"], "xref": ["GARD:0010416", "MEDGEN:575266", "MESH:D000090542", "NANDO:1200394", "NANDO:2201255", "Orphanet:391665", "SCTID:238078005", "UMLS:C0342881"]}
{"category": ["biolink:Disease"], "description": "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.", "id": "MONDO:0018330", "name": "Mucinous adenocarcinoma of the appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["appendiceal mucinous adenocarcinoma", "appendix mucinous adenocarcinoma", "vermiform appendix mucinous adenocarcinoma"], "xref": ["GARD:0021629", "MEDGEN:317382", "NCIT:C43558", "ONCOTREE:MAAP", "Orphanet:391723", "UMLS:C1706832", "icd11.foundation:425095558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018332", "name": "Multiple acyl-coa dehydrogenase deficiency, severe neonatal type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MAD deficiency, severe neonatal type", "MADD, severe neonatal type", "glutaric aciduria type 2, severe neonatal type"], "xref": ["GARD:0017626", "MEDGEN:1842925", "Orphanet:394529", "UMLS:C5680029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018333", "name": "Multiple acyl-coa dehydrogenase deficiency, mild type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MAD deficiency, mild type", "MADD, mild type", "glutaric aciduria type 2, mild type"], "xref": ["GARD:0017627", "MEDGEN:1843108", "Orphanet:394532", "UMLS:C5680028"]}
{"category": ["biolink:Disease"], "description": "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.", "id": "MONDO:0018334", "name": "Chronic hiccup", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hiccups, Chronic"], "xref": ["GARD:0006657", "HP:0100247", "MEDGEN:900733", "NORD:1242", "Orphanet:396", "SCTID:716771000", "UMLS:C0744898", "icd11.foundation:1300687612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018338", "name": "Activated pi3k-delta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["APDS", "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"], "xref": ["GARD:0011983", "ICD9:279.8", "MESH:C585640", "Orphanet:397596", "SCTID:711480000"]}
{"category": ["biolink:Disease"], "description": "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.", "id": "MONDO:0018339", "name": "Prp systemic amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chronic diarrhea with HSAN", "chronic diarrhea with hereditary sensory and autonomic neuropathy", "chronic diarrhoea with HSAN", "chronic diarrhoea with hereditary sensory and autonomic neuropathy", "prion protein systemic amyloidosis"], "xref": ["GARD:0021632", "MEDGEN:1377371", "Orphanet:397606", "SCTID:733422008", "UMLS:C4518776"]}
{"category": ["biolink:Disease"], "description": "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.", "id": "MONDO:0018341", "name": "3q27.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(3)(q27.3)"], "xref": ["GARD:0021633", "MEDGEN:1651953", "Orphanet:397695", "UMLS:C4749427"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.", "id": "MONDO:0018342", "name": "Joubert syndrome with jeune asphyxiating thoracic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JBTS with JATD", "Joubert syndrome with JATD"], "xref": ["GARD:0017637", "MEDGEN:1371401", "Orphanet:397715", "SCTID:733418003", "UMLS:C4518774"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018343", "name": "Periodic paralysis with later-onset distal motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021634", "MEDGEN:1670241", "Orphanet:397750", "UMLS:C4751573"]}
{"category": ["biolink:Disease"], "description": "Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.", "id": "MONDO:0018346", "name": "Ferro-cerebro-cutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FCCS", "cerebro-cutaneous syndrome with iron overload"], "xref": ["GARD:0021637", "MEDGEN:1658844", "OMIM:301072", "Orphanet:397922", "UMLS:C4751570"]}
{"category": ["biolink:Disease"], "description": "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).", "id": "MONDO:0018349", "name": "Man1b1-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAN1B1-CDG", "MAN1B1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency", "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency", "congenital disorder of glycosylation type II due to MAN1B1 deficiency", "intellectual disability-truncal obesity syndrome"], "xref": ["GARD:0012417", "MEDGEN:1375785", "Orphanet:397941", "SCTID:733450008", "UMLS:C4518783"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)", "id": "MONDO:0018352", "name": "Squamous cell carcinoma of penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of penis", "epidermoid carcinoma of the penis", "epidermoid cell carcinoma of penis", "epidermoid cell carcinoma of the penis", "penile epidermoid carcinoma", "penile epidermoid cell carcinoma", "penile squamous car.(epidermoid)", "penile squamous carcinoma (epidermoid)", "penile squamous cell cancer", "penile squamous cell carcinoma", "penis squamous cell carcinoma", "squamous cell carcinoma of penis", "squamous cell carcinoma of the penis"], "xref": ["DOID:5518", "GARD:0021639", "MEDGEN:116057", "NCIT:C7729", "ONCOTREE:PSCC", "Orphanet:398058", "SCTID:403468003", "UMLS:C0238348", "icd11.foundation:186592209"]}
{"category": ["biolink:Disease"], "description": "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.", "id": "MONDO:0018353", "name": "Refractory celiac disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intractable celiac sprue", "intractable coeliac sprue", "refractory CD", "refractory sprue"], "xref": ["EFO:0009266", "GARD:0021640", "MEDGEN:1670595", "NORD:1653", "Orphanet:398063", "UMLS:C4749333"]}
{"category": ["biolink:Disease"], "description": "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.", "id": "MONDO:0018354", "name": "Prader-willi-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PWS-like"], "xref": ["GARD:0021641", "MEDGEN:816207", "Orphanet:398073", "UMLS:C3809877"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018355", "name": "Sim1-related prader-willi-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SIM1-related PWLS"], "xref": ["GARD:0021642", "MEDGEN:1802084", "Orphanet:398079", "UMLS:C5680040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018356", "name": "Secondary neonatal autoimmune disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Transplacentally acquired neonatal autoimmune disease"], "xref": ["GARD:0021643", "MEDGEN:1842254", "Orphanet:398091", "UMLS:C5680041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018357", "name": "Neonatal antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neonatal Hughes syndrome", "neonatal antiphospholipid antibody syndrome"], "xref": ["GARD:0021644", "MEDGEN:1664921", "Orphanet:398097", "UMLS:C4751518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018358", "name": "Neonatal autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neonatal AHA", "neonatal AIHA"], "xref": ["GARD:0021645", "MEDGEN:1662969", "Orphanet:398109", "UMLS:C4751517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018359", "name": "Neonatal dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neonatal DM"], "xref": ["GARD:0021646", "MEDGEN:1649267", "Orphanet:398117", "UMLS:C4751516"]}
{"category": ["biolink:Disease"], "description": "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.", "id": "MONDO:0018360", "name": "Neonatal lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Neonatal Lupus"], "xref": ["EFO:0004537", "GARD:0021647", "MEDGEN:98372", "MESH:C536397", "NCIT:C99236", "NORD:1495", "Orphanet:398124", "SCTID:95609003", "UMLS:C0409979", "icd11.foundation:213855225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018361", "name": "Neonatal scleroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021648", "MEDGEN:1652107", "Orphanet:398127", "UMLS:C4509425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018362", "name": "Persistent idiopathic facial pain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AFP", "PIFP", "atypical facial pain"], "xref": ["GARD:0021649", "ICD10CM:G50.1", "MEDGEN:1673850", "Orphanet:398147", "UMLS:C5191641", "icd11.foundation:1799118131"]}
{"category": ["biolink:Disease"], "description": "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.", "id": "MONDO:0018363", "name": "Focal facial dermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FFDD"], "xref": ["GARD:0008416", "MEDGEN:445408", "MESH:C537068", "OMIMPS:136500", "Orphanet:398166", "UMLS:C2936827", "icd11.foundation:1200544726"]}
{"category": ["biolink:Disease"], "description": "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.", "id": "MONDO:0018364", "name": "Malignant epithelial tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["epithelial cancer of ovary", "malignant ovarian epithelial tumor", "malignant ovarian epithelial tumour", "malignant ovarian surface epithelial-stromal neoplasm", "malignant ovarian surface epithelial-stromal tumor", "malignant ovarian surface epithelial-stromal tumour", "ovarian epithelial cancer", "ovarian epithelial tumor, malignant", "ovarian malignant epithelial tumor", "ovarian malignant epithelial tumour", "ovarian stromal cancer"], "xref": ["DOID:2151", "GARD:0009362", "MEDGEN:577291", "MESH:C538090", "NCIT:C40026", "Orphanet:398934", "SCTID:254849005", "UMLS:C0346161"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018365", "name": "Malignant non-epithelial tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["non-epithelial cancer of ovary", "ovarian malignant non-epithelial tumor", "ovarian malignant non-epithelial tumour", "ovarian non-epithelial cancer"], "xref": ["GARD:0021650", "MEDGEN:1843209", "Orphanet:398940", "UMLS:C5680039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018368", "name": "Primary peritoneal serous/papillary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PPSPC", "peritoneal serous papillary adenocarcinoma", "primary peritoneal serous papillary adenocarcinoma", "primary peritoneal serous papillary carcinoma", "primary serous papillary carcinoma of peritoneum"], "xref": ["DOID:6228", "GARD:0021653", "MEDGEN:237154", "NCIT:C7695", "Orphanet:398980", "UMLS:C1368918"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.", "id": "MONDO:0018369", "name": "Immature ovarian teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["immature germ cell teratoma of ovary", "immature germ cell teratoma of the ovary", "immature ovarian teratoma", "immature teratoma of ovary", "immature teratoma of the ovary", "malignant germ cell teratoma of ovary", "malignant germ cell teratoma of the ovary", "malignant ovarian germ cell teratoma", "malignant ovarian teratoma", "malignant teratoma of ovary", "malignant teratoma of the ovary", "ovarian germ cell immature teratoma", "ovarian immature germ cell teratoma", "ovarian immature teratoma", "ovarian malignant teratoma", "ovary malignant teratoma"], "xref": ["DOID:6331", "GARD:0021654", "MEDGEN:138044", "NCIT:C39995", "NCIT:C8111", "ONCOTREE:OIMT", "Orphanet:398987", "SCTID:254871000", "UMLS:C0346182", "icd11.foundation:551209361"]}
{"category": ["biolink:Disease"], "description": "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.", "id": "MONDO:0018370", "name": "Klhl9-related early-onset distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021655", "MEDGEN:1647584", "Orphanet:399081", "SCTID:763776004", "UMLS:C4706574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018371", "name": "Nebulin-related early-onset distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021656", "MEDGEN:1677937", "Orphanet:399103", "UMLS:C5190827"]}
{"category": ["biolink:Disease"], "description": "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.", "id": "MONDO:0018373", "name": "Avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AVN", "avascular necrosis of bone"], "xref": ["GARD:0021658", "MEDGEN:10200", "NCIT:C34841", "Orphanet:399164", "SCTID:397758007", "UMLS:C0027543"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018374", "name": "Secondary avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["secondary AVN"], "xref": ["GARD:0021659", "MEDGEN:1842971", "Orphanet:399169", "UMLS:C5680036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018375", "name": "Traumatic avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["traumatic AVN"], "xref": ["GARD:0021660", "MEDGEN:1802844", "Orphanet:399175", "UMLS:C5680037", "icd11.foundation:822486319"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018376", "name": "Secondary non-traumatic avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["secondary non-traumatic AVN"], "xref": ["GARD:0021661", "MEDGEN:1684106", "Orphanet:399180", "UMLS:C5192430"]}
{"category": ["biolink:Disease"], "description": "An area of necrotic bone in the mandible or maxilla.", "id": "MONDO:0018378", "name": "Osteonecrosis of the jaw", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ONJ", "jaw osteonecrosis", "osteonecrosis of jaw"], "xref": ["GARD:0021663", "ICD9:733.45", "MEDGEN:751019", "NCIT:C63924", "Orphanet:399293", "SCTID:441809006", "UMLS:C2711248"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018379", "name": "Primary avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["primary AVN"], "xref": ["GARD:0021664", "MEDGEN:1842421", "Orphanet:399302", "UMLS:C5680038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018380", "name": "Idiopathic avascular necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic AVN"], "xref": ["GARD:0021665", "MEDGEN:1805758", "Orphanet:399307", "UMLS:C1404767", "icd11.foundation:551598148"]}
{"category": ["biolink:Disease"], "description": "A condition that is characterized by defective bone growth that affects the growth centers of bone.", "id": "MONDO:0018381", "name": "Osteochondrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["osteochondrosis not specified as adult or juvenile, of unspecified site"], "xref": ["DOID:8125", "GARD:0012704", "ICD10CM:M42", "ICD9:732.6", "MEDGEN:18216", "MESH:D055034", "NCIT:C34879", "Orphanet:399319", "SCTID:19579005", "UMLS:C0029429", "icd11.foundation:1446309782"]}
{"category": ["biolink:Disease"], "description": "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).", "id": "MONDO:0018382", "name": "Epiphysiolysis of the hip", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCFE", "SUFE", "SufE", "epiphysiolysis capitis femoris", "epiphysiolysis of the upper femur", "femoral head epiphysiolysis", "slipped capital femoral epiphysis", "slipped femoral capital epiphyses", "slipped upper femoral epiphysis"], "xref": ["GARD:0021666", "ICD10CM:M93.0", "MEDGEN:57704", "MESH:D060048", "OMIM:182260", "Orphanet:399329", "SCTID:26460006", "UMLS:C0149887"]}
{"category": ["biolink:Disease"], "description": "An instance of osteonecrosis that is caused by a modification of the individual's genome.", "id": "MONDO:0018383", "name": "Osteonecrosis of genetic origin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["bone necrosis of genetic origin", "genetic osteonecrosis"], "xref": ["GARD:0021667", "MEDGEN:1842788", "Orphanet:399380", "UMLS:C5680035"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.", "id": "MONDO:0018394", "name": "Male infertility with teratozoospermia due to single gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017654", "MEDGEN:1643966", "Orphanet:399808", "SCTID:764096006", "UMLS:C4706677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018408", "name": "Cystic echinococcosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hydatidosis", "hydatid disease"], "xref": ["DOID:1495", "GARD:0002764", "ICD9:122.4", "MEDGEN:1639841", "MedDRA:10014096", "Orphanet:400", "SCTID:721822004", "UMLS:C4553297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018416", "name": "Autosomal recessive spastic paraplegia type 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG59"], "xref": ["GARD:0021695", "MEDGEN:1669596", "Orphanet:401795", "UMLS:C4750857"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018417", "name": "Autosomal recessive spastic paraplegia type 60", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG60"], "xref": ["GARD:0021696", "MEDGEN:1683240", "Orphanet:401800", "UMLS:C5190589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018418", "name": "Autosomal recessive spastic paraplegia type 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG66"], "xref": ["GARD:0021697", "MEDGEN:1675102", "Orphanet:401815", "UMLS:C5190590"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.", "id": "MONDO:0018419", "name": "Autosomal recessive spastic paraplegia type 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG67"], "xref": ["GARD:0021698", "MEDGEN:1644708", "Orphanet:401820", "SCTID:766767001", "UMLS:C4707829"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018420", "name": "Autosomal recessive spastic paraplegia type 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPG68"], "xref": ["GARD:0025129", "Orphanet:401825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018421", "name": "Autosomal recessive spastic paraplegia type 69", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG69"], "xref": ["GARD:0021699", "MEDGEN:1679277", "Orphanet:401830", "UMLS:C5190577"]}
{"category": ["biolink:Disease"], "description": "A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.", "id": "MONDO:0018422", "name": "Autosomal recessive spastic paraplegia type 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG70", "autosomal recessive spastic paraplegia type 70", "spastic paraplegia 70, autosomal recessive"], "xref": ["DOID:0070454", "GARD:0021700", "MEDGEN:1655287", "OMIM:620323", "Orphanet:401835", "UMLS:C4749431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018423", "name": "Autosomal recessive spastic paraplegia type 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG71"], "xref": ["GARD:0021701", "MEDGEN:1680976", "Orphanet:401840", "UMLS:C5190578"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.", "id": "MONDO:0018424", "name": "Inherited lipoic acid biosynthesis defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of lipoate biosynthetic process", "inborn lipoate biosynthetic process disorder", "lipoate biosynthesis defect", "rare inborn error of lipoate biosynthetic process"], "xref": ["GARD:0012679", "MEDGEN:1843250", "Orphanet:401854", "UMLS:C5680006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018425", "name": "Huntington disease-like syndrome due to c9orf72 expansions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["C9ORF72-related Huntington disease phenocopy", "C9ORF72-related Huntington disease-like syndrome", "Huntington disease phenocopy due to C9ORF72 expansions"], "xref": ["GARD:0021702", "MEDGEN:1676144", "Orphanet:401901", "UMLS:C5190586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018426", "name": "Axin2-related attenuated familial adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["AXIN2-related AFAP", "AXIN2-related attenuated FAP", "AXIN2-related attenuated familial polyposis coli"], "xref": ["GARD:0021703", "MEDGEN:1826067", "Orphanet:401911", "UMLS:C5680012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018428", "name": "9q31.1q31.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(9)(q31.1q31.3)", "monosomy 9q31.1q31.3"], "xref": ["GARD:0021705", "MEDGEN:1665719", "Orphanet:401923", "UMLS:C4750910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018429", "name": "14q24.1q24.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(14)(q24.1q24.3)", "monosomy 14q24.1q24.3"], "xref": ["GARD:0021706", "MEDGEN:1668571", "Orphanet:401935", "UMLS:C4750911"]}
{"category": ["biolink:Disease"], "description": "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.", "id": "MONDO:0018430", "name": "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021707", "MEDGEN:1660429", "Orphanet:401959", "UMLS:C4750913"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018431", "name": "Cold-induced sweating syndrome - hyperthermia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:ordo_inheritance_inconsistent", "mondo:rare"], "xref": ["GARD:0021708", "MEDGEN:1842440", "Orphanet:401993", "UMLS:C5681139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018432", "name": "Lichen myxedematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["lichen myxoedematosus"], "xref": ["GARD:0021709", "ICD9:701.8", "MEDGEN:1848864", "Orphanet:402007", "SCTID:111197009", "UMLS:C5848049"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.", "id": "MONDO:0018433", "name": "Acute myeloid leukemia with t(6;9)(p23;q34)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["9)(p23", "AML with t(6", "q34)"], "xref": ["GARD:0021710", "MEDGEN:1376401", "Orphanet:402014", "UMLS:C4518837"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018434", "name": "Acute myeloid leukemia with t(9;11)(p22;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["11)(p22", "AML with t(9", "q23)"], "xref": ["GARD:0021711", "MEDGEN:753997", "Orphanet:402017", "UMLS:C2919692"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.", "id": "MONDO:0018435", "name": "Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["3)(p21", "3)(q21", "AML with inv3(p21", "AML with inv3(q21", "q26.2)", "q26.2) or t(3"], "xref": ["GARD:0012759", "MEDGEN:415269", "NCIT:C82426", "Orphanet:402020", "UMLS:C2826172"]}
{"category": ["biolink:Disease"], "description": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.", "id": "MONDO:0018436", "name": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["22)(p13", "megakaryoblastic AML with t(1", "q13)"], "xref": ["GARD:0021712", "MEDGEN:1638466", "Orphanet:402023", "SCTID:763796007", "UMLS:C4706584"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.", "id": "MONDO:0018437", "name": "Acute myeloid leukemia with npm1 somatic mutations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML with NPM1 somatic mutations"], "xref": ["GARD:0021713", "MEDGEN:1633725", "Orphanet:402026", "SCTID:763309005", "UMLS:C4706386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018438", "name": "Eosinophilic gastrointestinal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["EGID", "primary eosinophilic gastrointestinal disease"], "xref": ["GARD:0021714", "MEDGEN:1826142", "NANDO:1200454", "NANDO:2200807", "Orphanet:402029", "UMLS:C5680014"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the colon that is characterized by eosinic infiltration.", "id": "MONDO:0018439", "name": "Eosinophilic colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021715", "ICD10CM:K52.82", "ICD9:558.42", "MEDGEN:75633", "NCIT:C27053", "Orphanet:402035", "SCTID:29120000", "UMLS:C0267448", "icd11.foundation:1169803773"]}
{"category": ["biolink:Disease"], "description": "The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.", "id": "MONDO:0018440", "name": "Autosomal recessive distal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AR dRTA", "autosomal recessive distal RTA", "autosomal recessive distal renal tubular acidosis (disease)", "distal renal tubular acidosis (disease), autosomal recessive"], "xref": ["GARD:0004666", "MEDGEN:351142", "Orphanet:402041", "UMLS:C1864498"]}
{"category": ["biolink:Disease"], "description": "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.", "id": "MONDO:0018442", "name": "Acitretin/etretinate embryopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["fetal acitretin/etretinate syndrome", "foetal acitretin/etretinate syndrome", "retinoid embryopathy"], "xref": ["MEDGEN:1386157", "MESH:C538169", "Orphanet:40366", "SCTID:725287006", "UMLS:C4510941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018443", "name": "Fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021717", "MEDGEN:1650412", "Orphanet:404451", "UMLS:C4751506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018445", "name": "Global developmental delay - lung cysts - overgrowth - wilms tumor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GLOW", "GLOW syndrome, somatic mosaic", "global developmental delay, lung cysts, overgrowth, and wilms tumor", "global developmental delay, lung cysts, overgrowth, and wilms tumour", "glow syndrome"], "xref": ["GARD:0017676", "MEDGEN:1648360", "OMIM:618272", "Orphanet:404476", "UMLS:C4748924"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018446", "name": "Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021719", "MEDGEN:1843349", "Orphanet:404481", "UMLS:C5681145"]}
{"category": ["biolink:Disease"], "description": "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.", "id": "MONDO:0018447", "name": "Chondromyxoid fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chondromyxoid fibroma"], "xref": ["EFO:0000332", "GARD:0021720", "ICDO:9241/0", "MEDGEN:66375", "NCIT:C3830", "Orphanet:404507", "UMLS:C0221290"]}
{"category": ["biolink:Disease"], "description": "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.", "id": "MONDO:0018448", "name": "Clear cell papillary renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021721", "MEDGEN:1388623", "NCIT:C121955", "ONCOTREE:CCPRC", "Orphanet:404511", "SCTID:734015000", "UMLS:C4518333"]}
{"category": ["biolink:Disease"], "description": "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.", "id": "MONDO:0018449", "name": "Acquired cystic disease-associated renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021722", "MEDGEN:1644241", "NCIT:C157718", "Orphanet:404514", "UMLS:C4707179"]}
{"category": ["biolink:Disease"], "description": "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.", "id": "MONDO:0018450", "name": "Spinal muscular atrophy with respiratory distress type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMARD2", "X-linked spinal muscular atrophy with respiratory distress", "diaphragmatic spinal muscular atrophy type 2", "severe infantile axonal neuropathy with respiratory failure type 2"], "xref": ["GARD:0021723", "MEDGEN:1658540", "Orphanet:404521", "UMLS:C4749434"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018453", "name": "Familial atypical multiple mole melanoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAMM syndrome", "FAMM-PC syndrome", "FAMMM syndrome", "familial Clark nevus syndrome", "familial atypical mole melanoma syndrome", "familial atypical mole syndrome", "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome", "familial dysplastic nevus syndrome"], "xref": ["GARD:0009281", "MEDGEN:389220", "NCIT:C27264", "Orphanet:404560", "UMLS:C2314896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018456", "name": "Polyarticular juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["juvenile polyarthritis", "juvenile polyarticular arthritis", "polyarticular JIA"], "xref": ["EFO:0009730", "GARD:0021729", "MEDGEN:1622195", "Orphanet:404580", "SCTID:16044751000119106", "UMLS:C4521004"]}
{"category": ["biolink:Disease"], "description": "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.", "id": "MONDO:0018458", "name": "Familial hypocalciuric hypercalcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial benign hypercalcemia", "familial benign hypocalciuric hypercalcemia"], "xref": ["DOID:0060699", "GARD:0010828", "MEDGEN:369200", "NCIT:C123262", "OMIMPS:145980", "Orphanet:405", "SCTID:237885008", "UMLS:C1809471", "icd11.foundation:81374726"]}
{"category": ["biolink:Disease"], "description": "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).", "id": "MONDO:0018459", "name": "Isolated glycerol kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperglycerolemia", "isolated inborn glycerol kinase deficiency", "nonsyndromic glycerol kinase deficiency", "nonsyndromic inborn glycerol kinase deficiency"], "xref": ["GARD:0002807", "MEDGEN:657821", "Orphanet:408", "UMLS:C0574108", "icd11.foundation:542432712"]}
{"category": ["biolink:Disease"], "description": "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.", "id": "MONDO:0018460", "name": "Eales disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic retinal perivasculitis", "idiopathic retinal vasculitis"], "xref": ["GARD:0006309", "MEDGEN:75733", "MESH:C538011", "MedDRA:10057429", "NORD:1076", "Orphanet:40923", "SCTID:54122009", "UMLS:C0271073", "icd11.foundation:945788847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018461", "name": "Angelman syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021732", "MEDGEN:1842258", "Orphanet:411511", "UMLS:C5681146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018462", "name": "Angelman syndrome due to imprinting defect in 15q11-q13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021733", "MEDGEN:1826135", "Orphanet:411515", "UMLS:C5681834"]}
{"category": ["biolink:Disease"], "description": "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.", "id": "MONDO:0018463", "name": "Mild phosphoribosylpyrophosphate synthetase superactivity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["mild PRPP synthetase superactivity", "mild PRPS1 superactivity"], "xref": ["GARD:0017681", "MEDGEN:1843112", "Orphanet:411536", "UMLS:C5680016"]}
{"category": ["biolink:Disease"], "description": "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.", "id": "MONDO:0018464", "name": "Severe phosphoribosylpyrophosphate synthetase superactivity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["severe PRPP synthetase superactivity", "severe PRPS1 superactivity"], "xref": ["GARD:0017682", "MEDGEN:1843045", "Orphanet:411543", "UMLS:C5680017"]}
{"category": ["biolink:Disease"], "description": "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.", "id": "MONDO:0018465", "name": "Insulin autoimmune syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hirata disease"], "xref": ["DOID:0040100", "GARD:0010808", "ICD9:279.49", "MEDGEN:678528", "Orphanet:411593", "SCTID:408539000", "UMLS:C0854359"]}
{"category": ["biolink:Disease"], "description": "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.", "id": "MONDO:0018467", "name": "Nephropathic infantile cystinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["cystinosis, infantile nephropathic", "nephropathic infantile cystinosis"], "xref": ["GARD:0009755", "MEDGEN:760976", "NANDO:1200162", "NANDO:2201234", "Orphanet:411629", "SCTID:62332007", "UMLS:C3537440"]}
{"category": ["biolink:Disease"], "description": "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.", "id": "MONDO:0018468", "name": "Proton-pump inhibitor-responsive esophageal eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPI-REE", "PPI-responsive esophageal eosinophilia", "PPIRee"], "xref": ["GARD:0021735", "MEDGEN:1669432", "Orphanet:411696", "UMLS:C4749332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018469", "name": "Pulmonary non-tuberculous mycobacterial infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nontuberculous Mycobacterial Lung Disease", "non-tuberculous mycobacterial lung disease"], "xref": ["GARD:0012829", "MEDGEN:758704", "NORD:1887", "Orphanet:411703", "UMLS:C3472679", "icd11.foundation:1798822437"]}
{"category": ["biolink:Disease"], "description": "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).", "id": "MONDO:0018470", "name": "Renal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["absent/small kidney", "absent/underdeveloped kidney", "renal agenesis", "renal agenesis (disease)", "renal agenesis/hypoplasia"], "xref": ["DOID:14766", "GARD:0009228", "HP:0000104", "HP:0008678", "MEDGEN:154237", "NANDO:2200156", "NCIT:C99041", "OMIMPS:191830", "Orphanet:411709", "SCTID:204942005", "UMLS:C0542519", "icd11.foundation:683319223"]}
{"category": ["biolink:Disease"], "description": "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.", "id": "MONDO:0018471", "name": "Generalized eruptive keratoacanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GEKA", "Grzybowski syndrome", "generalised eruptive keratoacanthomas of Grzybowski", "generalized eruptive keratoacanthomas of Grzybowski"], "xref": ["GARD:0021736", "MEDGEN:577226", "Orphanet:411777", "SCTID:254664008", "UMLS:C0345985"]}
{"category": ["biolink:Disease"], "description": "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.", "id": "MONDO:0018472", "name": "Familial isolated trichomegaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111566", "GARD:0013167", "MEDGEN:1639703", "Orphanet:411788", "SCTID:764523004", "UMLS:C4706941", "icd11.foundation:1611595637"]}
{"category": ["biolink:Disease"], "description": "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.", "id": "MONDO:0018473", "name": "Hyperlipoproteinemia type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Broad-betalipoproteinemia", "HLP type 3", "dyslipidaemia type 3", "dyslipidemia type 3", "familial dysbetalipoproteinemia", "familial hyperlipoproteinemia type 3", "hyperlipidemia type 3", "hyperlipoproteinemia type III", "remnant disease"], "xref": ["DOID:3145", "GARD:0006703", "MEDGEN:9364", "MedDRA:10060751", "OMIM:617347", "Orphanet:412", "SCTID:398796005", "UMLS:C0020479"]}
{"category": ["biolink:Disease"], "description": "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.", "id": "MONDO:0018474", "name": "13q12.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(13)(q12.3)", "monosomy 13q12.3"], "xref": ["GARD:0021737", "MEDGEN:1657124", "Orphanet:412035", "UMLS:C4750951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018475", "name": "Prkar1b-related neurodegenerative dementia with intermediate filaments", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021738", "MEDGEN:1654800", "Orphanet:412066", "UMLS:C4751505"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018476", "name": "Dystonia-aphonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021739", "MEDGEN:1675660", "Orphanet:412217", "UMLS:C5190573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018477", "name": "Bilirubin encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["bilirubin encephalopathy", "kernicterus"], "xref": ["DOID:2382", "GARD:0006830", "ICD10CM:P57", "MEDGEN:44018", "MESH:D007647", "MedDRA:10023376", "NCIT:C84799", "Orphanet:415286", "SCTID:50143004", "UMLS:C0022610"]}
{"category": ["biolink:Disease"], "description": "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.", "id": "MONDO:0018479", "name": "Congenital adrenal hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CAH", "adrenal hyperplasia, congenital", "congenital adrenal gland hyperplasia"], "xref": ["DOID:0050811", "GARD:0001467", "ICD9:255.2", "MEDGEN:7900", "MESH:D000312", "MedDRA:10010323", "NANDO:1200396", "NANDO:1200397", "NANDO:2100134", "NANDO:2200370", "NCIT:C34360", "NORD:992", "Orphanet:418", "SCTID:237751000", "UMLS:C0001627", "icd11.foundation:172733763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018480", "name": "Carcinoma of esophagus, salivary gland type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["esophageal carcinoma, salivary gland type"], "xref": ["GARD:0021741", "MEDGEN:1678006", "Orphanet:418945", "UMLS:C5190854"]}
{"category": ["biolink:Disease"], "description": "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.", "id": "MONDO:0018481", "name": "Undifferentiated carcinoma of esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["esophageal undifferentiated carcinoma", "esophagus undifferentiated carcinoma", "oesophagus undifferentiated carcinoma", "undifferentiated esophageal cancer", "undifferentiated esophageal carcinoma"], "xref": ["GARD:0021742", "MEDGEN:412163", "NCIT:C27422", "Orphanet:418951", "UMLS:C2188058"]}
{"category": ["biolink:Disease"], "description": "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.", "id": "MONDO:0018483", "name": "Secondary pulmonary alveolar proteinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPAP", "secondary PAP"], "xref": ["GARD:0021744", "MEDGEN:845105", "NANDO:1200749", "Orphanet:420259", "SCTID:707510005", "UMLS:C3873302", "icd11.foundation:1480338606"]}
{"category": ["biolink:Disease"], "description": "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.", "id": "MONDO:0018484", "name": "Semicircular canal dehiscence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Minor's syndrome", "Minorbs syndrome", "SCD syndrome", "Superior Semicircular Canal Dehiscence"], "xref": ["DOID:0080193", "GARD:0021745", "MEDGEN:1642474", "NORD:1891", "Orphanet:420402", "SCTID:717799003", "UMLS:C4708600"]}
{"category": ["biolink:Disease"], "description": "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.", "id": "MONDO:0018485", "name": "Glycogen storage disease due to acid maltase deficiency, late-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Alpha-1,4-glucosidase acid deficiency, late onset", "Alpha-1,4-glucosidase acid deficiency, late-onset", "GSD due to acid maltase deficiency, late onset", "GSD due to acid maltase deficiency, late-onset", "GSD type 2, late onset", "GSD type 2, late-onset", "GSD type II, late onset", "GSD type II, late-onset", "LOPD", "Pompe disease, late onset", "Pompe disease, late-onset", "glycogen storage disease type 2, late onset", "glycogen storage disease type 2, late-onset", "glycogen storage disease type II, late onset", "glycogen storage disease type II, late-onset", "glycogenosis type 2, late onset", "glycogenosis type 2, late-onset", "glycogenosis type II, late onset", "glycogenosis type II, late-onset"], "xref": ["GARD:0021746", "MEDGEN:575206", "OMIM:621314", "Orphanet:420429", "SCTID:722343009", "UMLS:C0342753"]}
{"category": ["biolink:Disease"], "description": "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.", "id": "MONDO:0018486", "name": "Visual snow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012062", "MEDGEN:1661883", "NORD:1929", "Orphanet:420556", "UMLS:C4324662", "icd11.foundation:806322116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018487", "name": "Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021747", "MEDGEN:1682018", "Orphanet:420699", "UMLS:C5190862"]}
{"category": ["biolink:Disease"], "description": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.", "id": "MONDO:0018489", "name": "Anti-IgLON5 disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anti-IgLON5 disease", "anti-IgLON5 syndrome"], "xref": ["GARD:0021749", "MEDGEN:1644256", "Orphanet:420789", "SCTID:765751002", "UMLS:C4707562"]}
{"category": ["biolink:Disease"], "description": "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.", "id": "MONDO:0018490", "name": "Cono-spondylar dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome"], "xref": ["GARD:0021750", "MEDGEN:1638945", "Orphanet:420794", "SCTID:766874001", "UMLS:C4707860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018491", "name": "3-phosphoglycerate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025130", "ICD9:270.7", "MEDGEN:663158", "Orphanet:422519", "SCTID:303098002", "UMLS:C0580190", "icd11.foundation:460538363"]}
{"category": ["biolink:Disease"], "description": "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.", "id": "MONDO:0018492", "name": "Hereditary clear cell renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hereditary clear cell renal cell cancer", "hereditary clear cell renal carcinoma", "hereditary clear cell renal cell adenocarcinoma", "hereditary clear cell renal cell carcinoma", "hereditary conventional (clear cell) renal cell carcinoma"], "xref": ["DOID:7192", "GARD:0009571", "MEDGEN:234343", "NCIT:C36260", "Orphanet:422526", "SCTID:764961009", "UMLS:C1333985"]}
{"category": ["biolink:Disease"], "description": "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.", "id": "MONDO:0018493", "name": "Malignant hyperthermia of anesthesia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["anaesthesia related hyperthermia", "hyperthermia of anaesthesia", "hyperthermia of anesthesia", "malignant hyperpyrexia", "malignant hyperpyrexia due to anaesthesia", "malignant hyperthermia", "malignant hyperthermia of anesthesia", "malignant hyperthermia syndrome"], "xref": ["DOID:8545", "GARD:0006964", "HP:0002047", "ICD9:995.86", "MEDGEN:9867", "MESH:D008305", "MedDRA:10020844", "NCIT:C84869", "Orphanet:423", "SCTID:405501007", "UMLS:C0024591"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.", "id": "MONDO:0018494", "name": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021751", "MEDGEN:1659920", "Orphanet:423306", "UMLS:C4749647"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.", "id": "MONDO:0018495", "name": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021752", "MEDGEN:1374000", "Orphanet:423479", "UMLS:C4517296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018498", "name": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DORV with subaortic or doubly committed VSD"], "xref": ["GARD:0021755", "MEDGEN:1843284", "Orphanet:423693", "UMLS:C5680070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018499", "name": "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy"], "xref": ["GARD:0021756", "MEDGEN:1842277", "Orphanet:423712", "UMLS:C5680071"]}
{"category": ["biolink:Disease"], "description": "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.", "id": "MONDO:0018500", "name": "Cutaneous larva migrans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0001629", "ICD9:126.9", "MEDGEN:107487", "MESH:D007815", "Orphanet:423717", "SCTID:19362000", "UMLS:C0546999", "icd11.foundation:657025682"]}
{"category": ["biolink:Disease"], "description": "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.", "id": "MONDO:0018502", "name": "Hereditary gastric cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary cancer of stomach", "hereditary gastric cancer"], "xref": ["GARD:0021758", "MEDGEN:1843054", "Orphanet:423776", "UMLS:C5680075"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018503", "name": "Carcinoma of stomach, salivary gland type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["gastric carcinoma, salivary gland type"], "xref": ["Orphanet:423781"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.", "id": "MONDO:0018504", "name": "Undifferentiated carcinoma of stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Gastric undifferentiated carcinoma", "anaplastic carcinoma of stomach", "anaplastic carcinoma of the stomach", "anaplastic gastric carcinoma", "stomach undifferentiated carcinoma", "undifferentiated carcinoma of stomach", "undifferentiated carcinoma of the stomach", "undifferentiated gastric (stomach) cancer", "undifferentiated gastric carcinoma"], "xref": ["GARD:0021759", "MEDGEN:237029", "NCIT:C5476", "ONCOTREE:USTAD", "Orphanet:423786", "SCTID:766757006", "UMLS:C1336858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018506", "name": "Mesenchymal tumor of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["mesenchymal tumor of small bowel", "mesenchymal tumour of small bowel"], "xref": ["GARD:0021761", "MEDGEN:1843104", "Orphanet:423798", "UMLS:C5680077"]}
{"category": ["biolink:Disease"], "description": "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.", "id": "MONDO:0018507", "name": "Microcephaly-complex motor and sensory axonal neuropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021762", "MEDGEN:1637079", "Orphanet:423894", "UMLS:C4706585"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.", "id": "MONDO:0018509", "name": "Squamous cell carcinoma of the small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["small intestinal squamous cell cancer", "small intestinal squamous cell carcinoma", "small intestine squamous cell carcinoma", "squamous cell carcinoma of the small bowel"], "xref": ["GARD:0021764", "MEDGEN:313711", "NCIT:C43534", "Orphanet:423968", "UMLS:C1710111"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0018510", "name": "Small intestine neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NET of the small intestine", "neuroendocrine neoplasm of small intestine", "neuroendocrine neoplasm of the small intestine", "neuroendocrine tumor of small bowel", "neuroendocrine tumour of small bowel", "small intestinal neuroendocrine neoplasm", "small intestine NET", "small intestine neuroendocrine neoplasm", "small intestine neuroendocrine tumor", "small intestine neuroendocrine tumour"], "xref": ["DOID:4434", "EFO:1001928", "GARD:0021765", "MEDGEN:233453", "NCIT:C5803", "Orphanet:423975", "UMLS:C1336005"]}
{"category": ["biolink:Disease"], "description": "A epithelial neoplasm that involves the vermiform appendix.", "id": "MONDO:0018511", "name": "Epithelial tumor of the appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["appendiceal epithelial tumor", "appendiceal epithelial tumour", "vermiform appendix epithelial neoplasm"], "xref": ["GARD:0021766", "MEDGEN:1842930", "Orphanet:423982", "UMLS:C5680073"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the colon.", "id": "MONDO:0018513", "name": "Squamous cell carcinoma of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["colon epidermoid carcinoma", "colon squamous cell cancer", "colon squamous cell carcinoma", "colonic epidermoid carcinoma", "colonic squamous cell carcinoma", "epidermoid carcinoma of colon", "epidermoid carcinoma of the colon", "squamous cell carcinoma of colon", "squamous cell carcinoma of the colon", "squamous cell colon carcinoma"], "xref": ["DOID:5519", "GARD:0021768", "MEDGEN:272494", "NCIT:C5490", "Orphanet:423994", "SCTID:766981007", "UMLS:C1333100"]}
{"category": ["biolink:Disease"], "description": "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.", "id": "MONDO:0018515", "name": "Squamous cell carcinoma of rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["rectal squamous carcinoma", "rectal squamous cell cancer", "rectal squamous cell carcinoma", "rectum squamous cell carcinoma", "squamous carcinoma of rectum", "squamous carcinoma of the rectum", "squamous cell carcinoma of rectum", "squamous cell carcinoma of the rectum"], "xref": ["DOID:5528", "GARD:0021770", "MEDGEN:235534", "NCIT:C5554", "Orphanet:424002", "SCTID:766979005", "UMLS:C1335690"]}
{"category": ["biolink:Disease"], "description": "A epithelial neoplasm that involves the anal canal.", "id": "MONDO:0018516", "name": "Epithelial tumor of anal canal", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["anal canal epithelial neoplasm"], "xref": ["GARD:0021771", "MEDGEN:1842505", "Orphanet:424010", "UMLS:C5681209"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the pancreas.", "id": "MONDO:0018521", "name": "Squamous cell carcinoma of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pancreas squamous cell carcinoma", "pancreatic squamous cell carcinoma"], "xref": ["DOID:0080323", "GARD:0021776", "MEDGEN:393937", "NCIT:C173813", "Orphanet:424039", "UMLS:C2675993"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.", "id": "MONDO:0018523", "name": "Pancreatic mucinous cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreas mucinous cystadenoma", "pancreatic mucinous cystadenoma"], "xref": ["DOID:7235", "DOID:7735", "GARD:0021778", "MEDGEN:277492", "NCIT:C5718", "Orphanet:424053", "UMLS:C1335309"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.", "id": "MONDO:0018525", "name": "Solid pseudopapillary carcinoma of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreatic solid pseudopapillary carcinoma", "solid pseudopapillary carcinoma of pancreas", "solid pseudopapillary carcinoma of the pancreas"], "xref": ["DOID:6827", "GARD:0021780", "ICDO:8452/3", "MEDGEN:236832", "NCIT:C5728", "Orphanet:424065", "UMLS:C1336029"]}
{"category": ["biolink:Disease"], "description": "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.", "id": "MONDO:0018528", "name": "Congenital myopathy with myasthenic-like onset", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital myopathy with myasthenic-like onset"], "xref": ["GARD:0021783", "MEDGEN:1642781", "Orphanet:424107", "SCTID:763315005", "UMLS:C4706390"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.", "id": "MONDO:0018531", "name": "Carcinoma of liver and intrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of liver and IBT", "liver and intrahepatic bile duct carcinoma", "liver and intrahepatic biliary tract cancer", "liver and intrahepatic biliary tract carcinoma", "primary liver carcinoma"], "xref": ["GARD:0021786", "MEDGEN:78921", "NCIT:C7927", "ONCOTREE:HCCIHCH", "Orphanet:424936", "UMLS:C0279000"]}
{"category": ["biolink:Disease"], "description": "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.", "id": "MONDO:0018533", "name": "Undifferentiated carcinoma of liver and intrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["undifferentiated carcinoma of liver and IBT"], "xref": ["GARD:0021788", "MEDGEN:1656437", "Orphanet:424970", "UMLS:C4749401"]}
{"category": ["biolink:Disease"], "description": "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.", "id": "MONDO:0018534", "name": "Squamous cell carcinoma of liver and intrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["squamous cell carcinoma of liver and IBT"], "xref": ["GARD:0021789", "MEDGEN:1668494", "Orphanet:424975", "UMLS:C4749400"]}
{"category": ["biolink:Disease"], "description": "A cystadenocarcinoma that involves the biliary tree.", "id": "MONDO:0018535", "name": "Biliary cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intrahepatic bile duct cystadenocarcinoma"], "xref": ["GARD:0021790", "MEDGEN:473526", "Orphanet:424982", "UMLS:C2064409"]}
{"category": ["biolink:Disease"], "description": "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.", "id": "MONDO:0018536", "name": "Adenocarcinoma of gallbladder and extrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adenocarcinoma of gallbladder and EBT", "adenocarcinoma of the gallbladder and EBT", "adenocarcinoma of the gallbladder and extrahepatic biliary tract"], "xref": ["GARD:0021791", "MEDGEN:1633887", "Orphanet:424991", "SCTID:765741003", "UMLS:C4707555"]}
{"category": ["biolink:Disease"], "description": "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.", "id": "MONDO:0018537", "name": "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["squamous cell carcinoma of gallblader and EBT"], "xref": ["GARD:0021792", "MEDGEN:1635098", "Orphanet:424996", "SCTID:766978002", "UMLS:C4707898"]}
{"category": ["biolink:Disease"], "description": "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.", "id": "MONDO:0018540", "name": "Pfapa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marshall syndrome with periodic fever", "PFAPA", "periodic fever, aphthous stomatitis, pharyngitis and adenitis", "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome", "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"], "xref": ["DOID:0081451", "GARD:0005657", "MEDGEN:909507", "NCIT:C116917", "Orphanet:42642", "SCTID:717231003", "UMLS:C4082167"]}
{"category": ["biolink:Disease"], "description": "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).", "id": "MONDO:0018541", "name": "Familial hypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016532", "MEDGEN:899592", "Orphanet:427", "SCTID:715343000", "UMLS:C4275180", "icd11.foundation:712299654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018542", "name": "Severe congenital neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["SCN", "Severe Chronic Neutropenia", "neutropenia, severe congenital"], "xref": ["DOID:0050590", "GARD:0013592", "ICD9:288.01", "MEDGEN:343974", "MedDRA:10052210", "NANDO:1200353", "NANDO:2200745", "NCIT:C166152", "NORD:1705", "OMIMPS:202700", "Orphanet:42738", "SCTID:89655007", "UMLS:C1853118"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.", "id": "MONDO:0018543", "name": "Autosomal dominant hypocalcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AD hypocalcemia", "hypocalcemia, autosomal dominant"], "xref": ["DOID:0090109", "GARD:0002877", "MEDGEN:884527", "OMIMPS:601198", "Orphanet:428", "SCTID:711152006", "UMLS:C4048195"]}
{"category": ["biolink:Disease"], "description": "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.", "id": "MONDO:0018544", "name": "Adrenoleukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABCD1 deficiency", "ALD", "Bronze-Schilder disease", "Siemerling-Creutzfeldt disease", "X-ALD", "X-Linked Adrenoleukodystrophy", "X-linked ALD", "X-linked adrenoleukodystrophy", "adrenoleukodystrophy", "adrenoleukodystrophy, X-linked", "adrenoleukodystrophy, X-linked recessive", "adrenomyeloneuropathy, adult", "adrenomyeloneuropathy, adult, X-linked recessive", "diffuse cerebral sclerosis of Schilder"], "xref": ["DOID:10588", "GARD:0005758", "MEDGEN:57667", "MESH:D000326", "MedDRA:10051260", "NANDO:1200165", "NANDO:2200576", "NCIT:C61252", "NORD:736", "OMIM:300100", "Orphanet:43", "UMLS:C0162309", "icd11.foundation:1085655586"]}
{"category": ["biolink:Disease"], "description": "Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).", "id": "MONDO:0018546", "name": "Serotonin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["serotonergic syndrome", "serotonin storm", "serotonin toxicity", "serotonin toxidrome"], "xref": ["EFO:1001842", "GARD:0018828", "ICD9:333.99", "MEDGEN:152119", "MESH:D020230", "MedDRA:10040108", "Orphanet:43116", "SCTID:371089000", "UMLS:C0699828", "icd11.foundation:678764364"]}
{"category": ["biolink:Disease"], "description": "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.", "id": "MONDO:0018547", "name": "Acute tricyclic antidepressant poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1830115", "Orphanet:43117", "UMLS:C5681319"]}
{"category": ["biolink:Disease"], "description": "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.", "id": "MONDO:0018548", "name": "Acute poisoning by drugs with membrane-stabilizing effect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:43119"]}
{"category": ["biolink:Disease"], "description": "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.", "id": "MONDO:0018551", "name": "Patent urachus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["patent urachus", "patent urachus (disease)"], "xref": ["GARD:0021798", "HP:0010479", "MEDGEN:75610", "NCIT:C99005", "Orphanet:431341", "SCTID:398316009", "UMLS:C0266357", "icd11.foundation:1391202028"]}
{"category": ["biolink:Disease"], "description": "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.", "id": "MONDO:0018552", "name": "Urachal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021799", "MEDGEN:758682", "Orphanet:431344", "SCTID:451030007", "UMLS:C3472657", "icd11.foundation:1174996735"]}
{"category": ["biolink:Disease"], "description": "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.", "id": "MONDO:0018553", "name": "Urachal diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Vesicourachal diverticulum"], "xref": ["GARD:0021800", "MEDGEN:609128", "NCIT:C123254", "Orphanet:431347", "SCTID:253899000", "UMLS:C0431743", "icd11.foundation:1816352256"]}
{"category": ["biolink:Disease"], "description": "A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.", "id": "MONDO:0018554", "name": "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PVOD and/or PCH"], "xref": ["EFO:0009199", "GARD:0021801", "MEDGEN:785618", "NANDO:1200426", "NANDO:1200428", "Orphanet:431353", "UMLS:C3698354"]}
{"category": ["biolink:Disease"], "description": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.", "id": "MONDO:0018555", "name": "Hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Normosmic idiopathic hypogonadotropic hypogonadism", "central hypogonadism", "gonadotropic deficiency", "hypogonadism, hypogonadotropic", "hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism with or without anosmia", "low gonadotropins (secondary hypogonadism)", "nIHH", "normosmic congenital hypogonadotropic hypogonadism", "secondary hypogonadism"], "xref": ["DOID:0090070", "DOID:7455", "GARD:0016533", "HP:0000044", "ICD9:253.4", "MEDGEN:82883", "NANDO:1200388", "NANDO:2100138", "NANDO:2200382", "NCIT:C113347", "OMIMPS:147950", "Orphanet:432", "SCTID:33927004", "UMLS:C0271623"]}
{"category": ["biolink:Disease"], "description": "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).", "id": "MONDO:0018556", "name": "Lambert-eaton myasthenic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Eaton Lambert syndrome", "Eaton-Lambert syndrome", "Lambert Eaton myasthenic syndrome", "Lambert Eaton syndrome", "Lambert-Eaton syndrome", "myasthenic syndrome of Lambert-Eaton", "myasthenic-myopathic syndrome of Lambert-Eaton"], "xref": ["DOID:0050214", "GARD:0006851", "ICD9:358.3", "MEDGEN:6005", "MESH:D015624", "MedDRA:10067685", "NCIT:C3155", "NORD:1346", "Orphanet:43393", "SCTID:56989000", "UMLS:C0022972", "icd11.foundation:796417193"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018559", "name": "Fetal lower urinary tract obstruction", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["LUTO"], "xref": ["GARD:0021804", "MEDGEN:931214", "Orphanet:435365", "SCTID:717752005", "UMLS:C4305545", "icd11.foundation:1661120971"]}
{"category": ["biolink:Disease"], "description": "A precocious puberty that involves the female organism.", "id": "MONDO:0018561", "name": "Precocious puberty in female", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["female organism precocious puberty", "precocious puberty of female organism"], "xref": ["HP:0010465", "MEDGEN:543449", "Orphanet:435561", "UMLS:C0271616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018563", "name": "Adactyly of foot", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["congenital absence of toes"], "xref": ["GARD:0025131", "MEDGEN:539387", "Orphanet:435623", "SCTID:66345008", "UMLS:C0265641"]}
{"category": ["biolink:Disease"], "description": "A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.", "id": "MONDO:0018564", "name": "3p25.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(3)p(25.3)", "intellectual disability-epilepsy-stereotypic hand movement syndrome", "monosomy 3p25.3"], "xref": ["GARD:0021813", "MEDGEN:1733655", "Orphanet:435638", "UMLS:C5437630"]}
{"category": ["biolink:Disease"], "description": "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.", "id": "MONDO:0018565", "name": "Congenital urachal anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021814", "MEDGEN:1433102", "Orphanet:435743", "UMLS:C1739100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018566", "name": "Short stature-advanced bone age-early-onset osteoarthritis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017717", "MEDGEN:1811782", "Orphanet:435804", "UMLS:C5681177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018567", "name": "Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMT2 due to TFG mutation"], "xref": ["GARD:0021815", "MEDGEN:1800451", "Orphanet:435819", "UMLS:C5569028"]}
{"category": ["biolink:Disease"], "description": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.", "id": "MONDO:0018569", "name": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017721", "MEDGEN:1812501", "Orphanet:435938", "UMLS:C5681178"]}
{"category": ["biolink:Disease"], "description": "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).", "id": "MONDO:0018570", "name": "Hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPP", "Rathburn disease", "deficiency of alkaline phosphatase (disorder) [ambiguous]", "phosphoethanolaminuria"], "xref": ["DOID:14213", "GARD:0006734", "ICD9:277.6", "MEDGEN:43799", "MESH:D007014", "MedDRA:10049933", "NANDO:1200656", "NANDO:2201012", "NCIT:C26798", "Orphanet:436", "SCTID:360792001", "UMLS:C0020630", "icd11.foundation:422012968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018571", "name": "Contractures-developmental delay-pierre robin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["5q23 microdeletion syndrome"], "xref": ["GARD:0021816", "MEDGEN:1805516", "Orphanet:436003", "UMLS:C5680042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018572", "name": "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021817", "MEDGEN:1808836", "Orphanet:436141", "UMLS:C5681179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018573", "name": "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021818", "MEDGEN:1801791", "Orphanet:436144", "UMLS:C5681180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018576", "name": "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021819", "MEDGEN:1806079", "Orphanet:436271", "UMLS:C5688227"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018577", "name": "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PXE-like syndrome with retinitis pigmentosa"], "xref": ["GARD:0021820", "MEDGEN:1810682", "Orphanet:436274", "UMLS:C5680045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018581", "name": "Progressive encephalomyelitis with rigidity and myoclonus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["PERM", "progressive encephalomyelitis with rigidity"], "xref": ["GARD:0013110", "MEDGEN:349287", "Orphanet:438266", "UMLS:C1861457"]}
{"category": ["biolink:Disease"], "description": "A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.", "id": "MONDO:0018582", "name": "Gcgr-related hyperglucagonemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MVAH", "Mahvash disease", "alpha-cell hyperplasia with glucagonemia", "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor", "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour", "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor", "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour"], "xref": ["DOID:0112306", "GARD:0010460", "MEDGEN:1677024", "OMIM:619290", "Orphanet:438274", "UMLS:C4763635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018583", "name": "Human infection by orthopoxvirus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021822", "MEDGEN:734973", "Orphanet:438279", "UMLS:C1532229"]}
{"category": ["biolink:Disease"], "description": "A rare ischemic disease characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue.", "id": "MONDO:0018585", "name": "Pediatric arterial ischemic stroke", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["childhood AIS", "childhood arterial ischaemic stroke", "childhood arterial ischemic stroke", "paediatric AIS", "pediatric AIS"], "xref": ["GARD:0021824", "MEDGEN:1803840", "Orphanet:439175", "SCTID:1197363004", "UMLS:C5680049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018586", "name": "Zinc-responsive necrolytic acral erythema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NAE", "necrolytic acral erythema"], "xref": ["GARD:0021825", "MEDGEN:1613901", "Orphanet:439196", "SCTID:762543009", "UMLS:C4546437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018587", "name": "Non-recovering obstetric brachial plexus lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chronic obstetric brachial plexus injury", "chronic obstetric brachial plexus palsy", "non-recovering OBPI", "non-recovering OBPL"], "xref": ["GARD:0021826", "MEDGEN:1810145", "Orphanet:439202", "UMLS:C5680048"]}
{"category": ["biolink:Disease"], "description": "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.", "id": "MONDO:0018588", "name": "Alect2 amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LECT2 amyloidosis", "leukocyte chemotactic factor-2 amyloidosis"], "xref": ["GARD:0021827", "MEDGEN:1801621", "Orphanet:439224", "UMLS:C5680047", "icd11.foundation:1363099940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018589", "name": "Aapoaiv amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["apolipoprotein A-IV amyloidosis"], "xref": ["DOID:0080927", "GARD:0021828", "MEDGEN:1800228", "Orphanet:439232", "UMLS:C5568805", "icd11.foundation:1235542353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018590", "name": "Abeta2m amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Beta2-microglobulinic amyloidosis"], "xref": ["DOID:0080928", "GARD:0021829", "MEDGEN:1842860", "Orphanet:439246", "UMLS:C5680053", "icd11.foundation:448754119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018591", "name": "Itm2b amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ITM2B-related amyloidosis", "ITM2B-related cerebral amyloid angiopathy", "familial cerebral amyloid angiopathy"], "xref": ["GARD:0017741", "ICD9:277.39", "MEDGEN:82800", "Orphanet:439254", "SCTID:45639009", "UMLS:C0268393", "icd11.foundation:503091580"]}
{"category": ["biolink:Disease"], "description": "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.", "id": "MONDO:0018592", "name": "Cutaneous polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["cutaneous PAN", "cutaneous periarteritis nodosa"], "xref": ["GARD:0007415", "ICD9:709.8", "MEDGEN:83358", "NCIT:C117295", "Orphanet:439729", "SCTID:239926000", "UMLS:C0343190", "icd11.foundation:1752423171"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018593", "name": "Primary polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["primary PAN", "primary periarteritis nodosa"], "xref": ["GARD:0021830", "MEDGEN:1842954", "Orphanet:439737", "UMLS:C5680052"]}
{"category": ["biolink:Disease"], "description": "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).", "id": "MONDO:0018594", "name": "Secondary polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Secondary PAN", "secondary PAN", "secondary periarteritis nodosa"], "xref": ["GARD:0021831", "MEDGEN:1843373", "Orphanet:439746", "UMLS:C5680050"]}
{"category": ["biolink:Disease"], "description": "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.", "id": "MONDO:0018595", "name": "Single-organ polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["single-organ PAN", "single-organ periarteritis nodosa"], "xref": ["GARD:0021832", "MEDGEN:1842346", "Orphanet:439755", "UMLS:C5680051"]}
{"category": ["biolink:Disease"], "description": "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.", "id": "MONDO:0018596", "name": "Systemic polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["systemic PAN", "systemic periarteritis nodosa"], "xref": ["GARD:0021833", "MEDGEN:1863875", "Orphanet:439762", "UMLS:C5848156"]}
{"category": ["biolink:Disease"], "description": "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.", "id": "MONDO:0018597", "name": "Plastic bronchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["croupous bronchitis", "fibrinous bronchitis", "pseudo-membranous bronchitis"], "xref": ["GARD:0021835", "MEDGEN:538495", "Orphanet:439881", "SCTID:53926002", "UMLS:C0264342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018599", "name": "Congenital oculomotor nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital CNIII lesion", "congenital third cranial nerve palsy"], "xref": ["GARD:0021836", "MEDGEN:1804232", "Orphanet:440221", "UMLS:C5680054", "icd11.foundation:2135160463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018600", "name": "Congenital abducens nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["benign congenital sixth cranial nerve palsy", "congenital CNVI palsy"], "xref": ["GARD:0021837", "MEDGEN:724505", "Orphanet:440233", "UMLS:C1302994"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018601", "name": "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021838", "MEDGEN:1801714", "Orphanet:440354", "UMLS:C5680056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018602", "name": "Necrotizing soft tissue infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NSTI"], "xref": ["GARD:0021839", "ICD9:136.9", "ICD9:729.99", "MEDGEN:752585", "Orphanet:440368", "SCTID:443928008", "UMLS:C2732890"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018603", "name": "Sftpc-related interstitial lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SFTPC-related ILD", "interstitial lung disease due to SP-C deficiency"], "xref": ["GARD:0017744", "Orphanet:440392"]}
{"category": ["biolink:Disease"], "description": "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.", "id": "MONDO:0018604", "name": "Familial colorectal cancer type x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FCCTX", "familial colorectal cancer type X"], "xref": ["GARD:0021840", "MEDGEN:856172", "NCIT:C120084", "Orphanet:440437", "UMLS:C3896578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018605", "name": "Disorders of pentose/polyol metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021841", "MEDGEN:1843151", "Orphanet:440701", "UMLS:C5681188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018606", "name": "Extensive peripapillary myelinated nerve fibers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021842", "MEDGEN:1842279", "Orphanet:440724", "UMLS:C5681187"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018607", "name": "Combined hamartoma of the retina and retinal pigment epithelium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHR-RPE", "combined hamartoma of the retina and RPE"], "xref": ["GARD:0021843", "MEDGEN:396281", "NCIT:C174548", "Orphanet:440727", "UMLS:C1862062"]}
{"category": ["biolink:Disease"], "description": "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.", "id": "MONDO:0018608", "name": "Pure autonomic failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Bradbury Eggleston syndrome", "Bradbury-Eggleston syndrome", "PAF", "Pure dysautonomia", "Pure idiopatic dysautonomia", "idiopathic orthostatic hypotension"], "xref": ["GARD:0010428", "MEDGEN:98293", "MESH:D054970", "NORD:1948", "Orphanet:441", "SCTID:84438001", "UMLS:C0393911", "icd11.foundation:734022291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018610", "name": "Early-onset posterior subcapsular cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021846", "MEDGEN:1842187", "Orphanet:441447", "UMLS:C5681190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018611", "name": "Early-onset lamellar cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0013155", "MEDGEN:1843303", "Orphanet:441452", "UMLS:C5681191"]}
{"category": ["biolink:Disease"], "description": "A thyroid hormone deficiency present from birth.", "id": "MONDO:0018612", "name": "Congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital hypothyroidism", "congenital iodine deficiency syndrome"], "xref": ["DOID:0050328", "GARD:0001487", "ICD9:243", "ICD9:269.3", "ICD9:759.89", "MEDGEN:41344", "MESH:D003409", "MedDRA:10010510", "NANDO:2200333", "NCIT:C26734", "Orphanet:442", "SCTID:190268003", "SCTID:217710005", "UMLS:C0010308", "icd11.foundation:602450215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018613", "name": "Ah amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["heavy chain amyloidosis"], "xref": ["DOID:0080934", "GARD:0021847", "MEDGEN:1684787", "NCIT:C158962", "Orphanet:442582", "UMLS:C5204115", "icd11.foundation:1511136608"]}
{"category": ["biolink:Disease"], "description": "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.", "id": "MONDO:0018614", "name": "Undetermined early-onset epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["non-specific early-onset epileptic encephalopathy", "undetermined EOEE", "undetermined early-onset epileptic encephalopathy"], "xref": ["GARD:0015028", "MEDGEN:1826068", "Orphanet:442835", "UMLS:C5680057"]}
{"category": ["biolink:Disease"], "description": "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.", "id": "MONDO:0018615", "name": "Hemicrania continua", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010795", "ICD10CM:G44.51", "ICD9:339.41", "MEDGEN:748511", "Orphanet:443070", "SCTID:443095000", "UMLS:C2349425", "icd11.foundation:1093161847"]}
{"category": ["biolink:Disease"], "description": "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.", "id": "MONDO:0018616", "name": "Central serous chorioretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CSC", "CSCR", "central serous retinopathy"], "xref": ["GARD:0000200", "ICD10CM:H35.71", "ICD9:362.41", "MEDGEN:147591", "MESH:D056833", "NCIT:C115124", "Orphanet:443079", "SCTID:312956001", "UMLS:C0730328", "icd11.foundation:1623925689"]}
{"category": ["biolink:Disease"], "description": "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.", "id": "MONDO:0018617", "name": "Baroreflex failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010664", "MEDGEN:742620", "Orphanet:443084", "UMLS:C1959798", "icd11.foundation:880662615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018620", "name": "Hypothalamic adipsic hypernatraemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021850", "MEDGEN:1814472", "NANDO:2200325", "Orphanet:443101", "UMLS:C5681196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018621", "name": "Lymphoplasmacytic lymphoma without igm production", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lymphoplasmacytic lymphoma without Immunoglobulin M production"], "xref": ["GARD:0021851", "MEDGEN:1814446", "Orphanet:443159", "UMLS:C5680061"]}
{"category": ["biolink:Disease"], "description": "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.", "id": "MONDO:0018623", "name": "Postpartum psychosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["puerperal psychosis"], "xref": ["GARD:0021853", "ICD10CM:F53", "ICD10CM:F53.1", "ICD9:648.44", "MEDGEN:636162", "Orphanet:443173", "SCTID:18260003", "UMLS:C0520678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018624", "name": "Spontaneous intracranial hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spontaneous cerebrospinal fluid leak"], "xref": ["GARD:0021854", "MEDGEN:155914", "NORD:1901", "Orphanet:443180", "UMLS:C0751731", "icd11.foundation:1304151002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018625", "name": "Classic stiff person syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["classic SPS"], "xref": ["GARD:0017754", "MEDGEN:1842410", "Orphanet:443192", "UMLS:C5680058"]}
{"category": ["biolink:Disease"], "description": "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.", "id": "MONDO:0018626", "name": "Paratyphoid fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:3055", "EFO:0007420", "GARD:0021855", "ICD9:002.1", "ICD9:002.2", "ICD9:002.3", "ICD9:002.9", "MEDGEN:18303", "MESH:D010284", "NCIT:C34897", "Orphanet:443227", "SCTID:51254007", "UMLS:C0030528", "icd11.foundation:1780040028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018628", "name": "Hiv-associated cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HIV-related cancer"], "xref": ["GARD:0021857", "MEDGEN:1843219", "NCIT:C4046", "Orphanet:443291", "UMLS:C5680059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018629", "name": "Focal stiff limb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Stiff leg syndrome", "focal stiff-person syndrome"], "xref": ["GARD:0017756", "MEDGEN:1672496", "Orphanet:443804", "UMLS:C4324606"]}
{"category": ["biolink:Disease"], "description": "A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.", "id": "MONDO:0018630", "name": "Hereditary nonpolyposis colon cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["HNPCC", "Hereditary nonpolyposis colorectal cancer (HNPCC)", "colorectal cancer, hereditary nonpolyposis", "familial nonpolyposis colon cancer", "familial nonpolyposis colorectal cancer", "hereditary nonpolyposis colon cancer", "hereditary nonpolyposis colorectal cancer"], "xref": ["GARD:0025132", "MEDGEN:232602", "NCIT:C120083", "OMIMPS:120435", "Orphanet:443909", "SCTID:315058005", "UMLS:C1333990", "icd11.foundation:8113015"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.", "id": "MONDO:0018631", "name": "Marie unna hereditary hypotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HR hypotrichosis", "MUHH", "Marie Unna congenital hypotrichosis", "hypotrichosis caused by mutation in HR", "hypotrichosis, Marie Unna type"], "xref": ["GARD:0003390", "MEDGEN:419706", "MESH:C535912", "Orphanet:444", "UMLS:C2931059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018632", "name": "11q22.2q22.3 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["11q22.2-q22.3 deletion syndrome", "Del(11)(q22.2q22.3)", "monosomy 11q22.2-q22.3", "monosomy 11q22.2q22.3"], "xref": ["GARD:0021858", "MEDGEN:1805294", "Orphanet:444002", "UMLS:C5680062"]}
{"category": ["biolink:Disease"], "description": "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.", "id": "MONDO:0018633", "name": "20q11.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(20)(q11.2)", "monosomy 20q11"], "xref": ["GARD:0021859", "MEDGEN:1810637", "Orphanet:444051", "UMLS:C5680063"]}
{"category": ["biolink:Disease"], "description": "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.", "id": "MONDO:0018634", "name": "Hereditary amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["amyloidosis, Familial", "hereditary amyloidosis (disease)"], "xref": ["GARD:0006611", "MEDGEN:148146", "MESH:D028226", "NCIT:C84555", "Orphanet:444116", "SCTID:367601000119103", "UMLS:C0740340", "icd11.foundation:1152878652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018635", "name": "Idiopathic phalangeal acro-osteolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic phalangeal acroosteolysis"], "xref": ["GARD:0021860", "MEDGEN:1803504", "Orphanet:444316", "UMLS:C5680064"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018636", "name": "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Evans syndrome associated with primary immunodeficiency", "TPPII deficiency", "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease", "triangle disease", "tripeptidyl-peptidase II deficiency"], "xref": ["GARD:0017766", "Orphanet:444463"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function.", "id": "MONDO:0018637", "name": "Familial chylomicronemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111417", "GARD:0006414", "MEDGEN:1778100", "Orphanet:444490", "UMLS:C5442313"]}
{"category": ["biolink:Disease"], "description": "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.", "id": "MONDO:0018638", "name": "Pseudohypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:4479", "GARD:0021861", "ICD9:255.8", "MEDGEN:18721", "MESH:D011546", "NANDO:2100133", "NANDO:2200367", "NCIT:C85034", "Orphanet:444916", "SCTID:77098009", "UMLS:C0033805"]}
{"category": ["biolink:Disease"], "description": "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.", "id": "MONDO:0018639", "name": "Caudal regression-sirenomelia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021862", "MEDGEN:1843168", "Orphanet:444941", "UMLS:C5681198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018640", "name": "Secondary vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021863", "MEDGEN:1842960", "Orphanet:445197", "UMLS:C5681200"]}
{"category": ["biolink:Disease"], "description": "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).", "id": "MONDO:0018642", "name": "Nik deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MAP3K14 non-severe combined immunodeficiency", "non-severe combined immunodeficiency caused by mutation in MAP3K14", "primary immunodeficiency with multifaceted aberrant lymphoid immunity"], "xref": ["GARD:0021864", "MEDGEN:1808868", "Orphanet:447731", "UMLS:C5680065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018644", "name": "Autosomal dominant complex spastic paraplegia type 9b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AD-SPG9B"], "xref": ["GARD:0021866", "MEDGEN:1800402", "Orphanet:447757", "UMLS:C5568979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018645", "name": "Igg4-related sclerosing cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021867", "MEDGEN:927778", "NANDO:1200928", "Orphanet:447764", "SCTID:722870008", "UMLS:C4302109", "icd11.foundation:1676971795"]}
{"category": ["biolink:Disease"], "description": "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.", "id": "MONDO:0018646", "name": "Sclerosing cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["sclerosing cholangitis", "sclerosing cholangitis (disease)"], "xref": ["DOID:14268", "EFO:0004268", "GARD:0021868", "HP:0030991", "MEDGEN:3036", "NANDO:1200440", "NANDO:2100265", "Orphanet:447771", "SCTID:235917005", "UMLS:C0008313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018647", "name": "Secondary sclerosing cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021869", "MEDGEN:586530", "Orphanet:447774", "SCTID:197442005", "UMLS:C0400978"]}
{"category": ["biolink:Disease"], "description": "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.", "id": "MONDO:0018648", "name": "Keratocystic odontogenic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KTOC", "odontogenic Keratocyst", "odontogenic keratocystoma"], "xref": ["GARD:0021870", "MEDGEN:313330", "NCIT:C54302", "Orphanet:447777", "SCTID:713277006", "UMLS:C1708604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018653", "name": "Polymerase proofreading-related adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["PPAP", "Polymerase proofreading-related adenomatous polyposis"], "xref": ["GARD:0017772", "MEDGEN:1687472", "NCIT:C162484", "Orphanet:447877", "UMLS:C5202613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018654", "name": "Idiopathic dropped head syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated neck extensor myopathy"], "xref": ["EFO:1001987", "GARD:0021874", "Orphanet:447881"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018655", "name": "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0017773", "MEDGEN:1842862", "NANDO:1200583", "NANDO:2201295", "Orphanet:447893", "UMLS:C5681201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018656", "name": "Tremor-ataxia-central hypomyelination syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["TACH syndrome"], "xref": ["GARD:0017774", "MEDGEN:1842823", "Orphanet:447896", "UMLS:C5680067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018657", "name": "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017776", "MEDGEN:1807813", "OMIM:618373", "Orphanet:447961", "UMLS:C5681108"]}
{"category": ["biolink:Disease"], "description": "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.", "id": "MONDO:0018658", "name": "19p13.3 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dup(19)(p13.13)"], "xref": ["GARD:0021875", "MEDGEN:1807189", "Orphanet:447980", "UMLS:C5679996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018659", "name": "Partial duplication of the short arm of chromosome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["partial duplication of chromosome 19p", "partial duplication of the short arm of chromosome type 19", "partial trisomy of chromosome 19p", "partial trisomy of the short arm of chromosome 19"], "xref": ["MEDGEN:1380854", "Orphanet:447985", "UMLS:C4518508"]}
{"category": ["biolink:Disease"], "description": "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.", "id": "MONDO:0018660", "name": "Hemophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hemophilia"], "xref": ["DOID:0061030", "GARD:0010418", "MEDGEN:146334", "MedDRA:10061992", "NCIT:C3093", "Orphanet:448", "SCTID:90935002", "UMLS:C0684275"]}
{"category": ["biolink:Disease"], "description": "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.", "id": "MONDO:0018661", "name": "Zika virus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ZikV infection", "Zika", "Zika virus caused disease or disorder", "Zika virus disease", "Zika virus disease or disorder", "Zika virus infection", "Zika virus infectious disease"], "xref": ["DOID:0060478", "GARD:0012894", "ICD10CM:A92.5", "MEDGEN:547236", "MESH:D000071243", "NCIT:C128423", "Orphanet:448237", "SCTID:3928002", "UMLS:C0276289", "icd11.foundation:1401438580"]}
{"category": ["biolink:Disease"], "description": "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.", "id": "MONDO:0018662", "name": "Autosomal recessive brachyolmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachyolmia, Hobaek/Toledo type", "brachyolmia, autosomal recessive"], "xref": ["GARD:0013171", "MEDGEN:1675807", "Orphanet:448242", "UMLS:C4760908", "icd11.foundation:625421044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018663", "name": "Regressive spondylometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pelger-Huet anomaly with mild skeletal anomalies", "regressive spondylometaphyseal dysplasia"], "xref": ["GARD:0017782", "MEDGEN:1648288", "OMIM:618019", "Orphanet:448267", "UMLS:C4747922"]}
{"category": ["biolink:Disease"], "description": "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.", "id": "MONDO:0018664", "name": "Ectopia cordis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ectopia cordis", "ectopia cordis (disease)"], "xref": ["GARD:0021877", "HP:0001683", "ICD9:746.87", "MEDGEN:41703", "MESH:D054083", "NCIT:C111643", "Orphanet:448270", "SCTID:78250005", "UMLS:C0013580", "icd11.foundation:285576893"]}
{"category": ["biolink:Disease"], "description": "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.", "id": "MONDO:0018666", "name": "Hepatoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HBL", "hepatoblastoma", "hepatoblastoma, malignant", "paediatric embryonal hepatoma", "paediatric hepatoblastoma", "pediatric embryonal hepatoma", "pediatric hepatoblastoma"], "xref": ["DOID:687", "EFO:1000292", "GARD:0002657", "ICD10CM:C22.2", "ICDO:8970/3", "MEDGEN:61644", "MESH:D018197", "MedDRA:10062001", "NANDO:2200046", "NCIT:C3728", "ONCOTREE:LIHB", "Orphanet:449", "UMLS:C0206624", "icd11.foundation:1241693063", "icd11.foundation:1556608523"]}
{"category": ["biolink:Disease"], "description": "The presence of pus in the thoracic cavity, between the visceral and parietal pleura.", "id": "MONDO:0018667", "name": "Pleural empyema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pleural empyema", "pleural empyema (disease)"], "xref": ["DOID:3798", "EFO:0009680", "GARD:0021879", "HP:0011919", "MEDGEN:4928", "MESH:D016724", "Orphanet:449266", "SCTID:405950009", "UMLS:C0014013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018668", "name": "Scedosporiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021880", "MEDGEN:1713603", "MESH:C000656924", "Orphanet:449280", "UMLS:C1142170", "icd11.foundation:807637046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018669", "name": "Snakebite envenomation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["poisoning by venomous snake"], "xref": ["GARD:0021881", "Orphanet:449285", "SCTID:61288004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018670", "name": "Symptomatic form of fragile x syndrome in female carrier", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0017783", "MEDGEN:1814467", "Orphanet:449291", "UMLS:C5681104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018671", "name": "Igg4-related kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0021882", "MEDGEN:1708840", "NANDO:1200930", "Orphanet:449395", "UMLS:C5392056", "icd11.foundation:1877692678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018672", "name": "Igg4-related aortitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["IgG4-related periaortitis"], "xref": ["GARD:0021883", "MEDGEN:1800431", "Orphanet:449400", "UMLS:C5569008", "icd11.foundation:593151236"]}
{"category": ["biolink:Disease"], "description": "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.", "id": "MONDO:0018673", "name": "Igg4-related pachymeningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["idiopathic hypertrophic pachymeningitis"], "xref": ["GARD:0013256", "MEDGEN:1627405", "Orphanet:449427", "SCTID:762282007", "UMLS:C4545992", "icd11.foundation:1140264879"]}
{"category": ["biolink:Disease"], "description": "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.", "id": "MONDO:0018674", "name": "Igg4-related submandibular gland disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["IgG4-related sialadenitis", "Kuttner tumor", "Kuttner tumour", "Kuttner's tumor", "Kuttner's tumour", "Küttner tumor", "Küttner tumour", "chronic sclerosing sialadenitis"], "xref": ["GARD:0021884", "MEDGEN:1830092", "NCIT:C82887", "Orphanet:449432", "SCTID:448131008", "UMLS:C5679995", "icd11.foundation:588811750"]}
{"category": ["biolink:Disease"], "description": "A IgG4-related disease that involves the eye.", "id": "MONDO:0018675", "name": "Igg4-related ophthalmic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["IgG4-related disease of eye", "eye IgG4-related disease"], "xref": ["GARD:0021885", "MEDGEN:1800432", "Orphanet:449563", "UMLS:C5569009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018676", "name": "Eosinophilic angiocentric fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IgG4-related eosinophilic angiocentric fibrosis", "eosinophilic angiocentric fibrosis"], "xref": ["GARD:0021886", "MEDGEN:1814179", "Orphanet:449566", "UMLS:C5578050", "icd11.foundation:57609544"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.", "id": "MONDO:0018677", "name": "Visceral heterotaxy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["heterotaxia", "heterotaxia syndrome", "heterotaxy syndrome", "heterotaxy, visceral", "incomplete situs inversus", "lateralization defect", "partial situs inversus", "situs ambiguous", "situs ambiguus", "visceral heterotaxy"], "xref": ["DOID:0050545", "GARD:0010875", "MEDGEN:465273", "MedDRA:10059119", "MedDRA:10067265", "NCIT:C117273", "OMIMPS:306955", "Orphanet:157769", "Orphanet:450", "SCTID:14821001", "UMLS:C3178805", "icd11.foundation:780273165"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018678", "name": "Polyclonal hyperviscosity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021887", "MEDGEN:1814466", "Orphanet:450322", "UMLS:C5681102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018679", "name": "Primary cutaneous plasmacytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021888", "MEDGEN:1672491", "Orphanet:451602", "UMLS:C4736227", "icd11.foundation:1669369613"]}
{"category": ["biolink:Disease"], "description": "A pseudolymphoma of the skin.", "id": "MONDO:0018680", "name": "Cutaneous pseudolymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lymphadenosis Benigna cutis", "lymphocytoma cutis", "pseudolymphoma of Spiegler"], "xref": ["GARD:0021889", "MEDGEN:81385", "NCIT:C62776", "Orphanet:451607", "SCTID:128862000", "UMLS:C0311220", "icd11.foundation:1620802923"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018681", "name": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"], "xref": ["GARD:0017785", "Orphanet:453499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018682", "name": "Congenital insensitivity to pain with severe intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of pain with severe intellectual disability", "congenital analgesia with severe intellectual disability", "congenital insensitivity to pain with preserved temperature sensation", "congenital insensitivity to pain with severe non-progressive cognitive delay"], "xref": ["GARD:0021890", "MEDGEN:1814444", "Orphanet:453510", "UMLS:C5679994"]}
{"category": ["biolink:Disease"], "description": "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.", "id": "MONDO:0018683", "name": "Acquired ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acquired ichthyosis", "acquired ichthyosis (disease)", "ichthyosis acquisita"], "xref": ["GARD:0000476", "ICD10CM:L85.0", "MEDGEN:78092", "MESH:C538175", "NCIT:C112831", "Orphanet:454", "SCTID:8691004", "UMLS:C0263386", "icd11.foundation:1504032289"]}
{"category": ["biolink:Disease"], "description": "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.", "id": "MONDO:0018684", "name": "Idiopathic neonatal atrial flutter", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neonatal cardiac dysrhythmia"], "xref": ["GARD:0018831", "ICD10CM:P29.1", "MEDGEN:904097", "Orphanet:45452", "SCTID:715560009", "UMLS:C4275090", "icd11.foundation:208964573"]}
{"category": ["biolink:Disease"], "description": "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.", "id": "MONDO:0018685", "name": "Incessant infant ventricular tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018832", "MEDGEN:573762", "Orphanet:45453", "SCTID:233908008", "UMLS:C0340487", "icd11.foundation:1364925734"]}
{"category": ["biolink:Disease"], "description": "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.", "id": "MONDO:0018686", "name": "Acquired creutzfeldt-jakob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired CJD", "acquired Creutzfeldt Jacob disease"], "xref": ["GARD:0017788", "MEDGEN:1826177", "MESH:C538481", "NANDO:1200192", "Orphanet:454700", "UMLS:C5681100"]}
{"category": ["biolink:Disease"], "description": "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.", "id": "MONDO:0018687", "name": "Progressive muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PMA"], "xref": ["DOID:318", "GARD:0021891", "ICD9:335.21", "MEDGEN:906831", "NCIT:C85027", "Orphanet:454706", "SCTID:88923002", "UMLS:C4082951", "icd11.foundation:1282359533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018688", "name": "Anti-p200 pemphigoid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021892", "MEDGEN:1802806", "Orphanet:454710", "UMLS:C5681099"]}
{"category": ["biolink:Disease"], "description": "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.", "id": "MONDO:0018689", "name": "Plasma cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCL", "leukaemia plasmacytic", "leukemia plasmacytic", "plasma cell leukemia", "plasmacytic leukaemia", "plasmacytic leukemia"], "xref": ["DOID:9513", "EFO:0006475", "GARD:0009373", "ICD10CM:C90.1", "ICD9:203.1", "ICD9:203.10", "ICDO:9733/3", "MEDGEN:9733", "MESH:D007952", "NCIT:C3180", "Orphanet:454714", "SCTID:95210003", "UMLS:C0023484", "icd11.foundation:2048216430"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.", "id": "MONDO:0018690", "name": "Holmes-adie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Adie Syndrome", "Adie pupil", "Adie syndrome", "Adie's pupil", "Holmes-Adie syndrome", "tonic pupil", "tonic pupil-tendon areflexia syndrome"], "xref": ["DOID:11549", "EFO:0004126", "GARD:0005749", "MEDGEN:138", "MESH:D000270", "NCIT:C34357", "NORD:735", "OMIM:103100", "Orphanet:454718", "SCTID:24225004", "UMLS:C0001519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018692", "name": "Variably protease-sensitive prionopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021894", "MEDGEN:929196", "Orphanet:454742", "SCTID:721165001", "UMLS:C4303527", "icd11.foundation:172957869"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital, esophageal disorder characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.", "id": "MONDO:0018694", "name": "Isolated tracheo-esophageal fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["H-type tracheoesophageal fistula", "tracheo-esophageal fistula", "tracheoesophageal fistula"], "xref": ["GARD:0021895", "NCIT:C35080", "Orphanet:454750"]}
{"category": ["biolink:Disease"], "description": "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.", "id": "MONDO:0018695", "name": "Avian influenza", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4492", "EFO:0005222", "GARD:0021897", "MEDGEN:42091", "MESH:D005585", "Orphanet:454836", "SCTID:55604004", "UMLS:C0016627"]}
{"category": ["biolink:Disease"], "description": "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.", "id": "MONDO:0018696", "name": "Corticobasal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081392", "GARD:0013168", "MEDGEN:1801322", "Orphanet:454887", "UMLS:C5575119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018697", "name": "1p35.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(1)(p35.2)", "deletion 1p35.2", "monosomy 1p35.2"], "xref": ["GARD:0021898", "MEDGEN:1807819", "Orphanet:456298", "UMLS:C5679992"]}
{"category": ["biolink:Disease"], "description": "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0018698", "name": "Hereditary neuroendocrine tumor of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary neuroendocrine tumor of small bowel", "hereditary neuroendocrine tumor of the small intestine", "hereditary neuroendocrine tumour of small bowel", "hereditary neuroendocrine tumour of the small intestine", "hereditary small intestine neuroendocrine neoplasm"], "xref": ["GARD:0021899", "MEDGEN:1826066", "Orphanet:456333", "UMLS:C5679993"]}
{"category": ["biolink:Disease"], "description": "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly", "id": "MONDO:0018702", "name": "Castleman-kojima disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TAFRO syndrome", "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"], "xref": ["GARD:0021902", "MEDGEN:1672503", "Orphanet:457077", "UMLS:C4552543", "icd11.foundation:1505841618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018703", "name": "Isolated splenogonadal fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SGF"], "xref": ["GARD:0021903", "MEDGEN:82748", "Orphanet:457083", "UMLS:C0266636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018705", "name": "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ANOAC", "axonal neuropathy-optic atrophy-cognitive deficit syndrome"], "xref": ["GARD:0021904", "MEDGEN:1814445", "Orphanet:457205", "UMLS:C5680002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018708", "name": "Squamous cell carcinoma of the oral tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OTSCC", "oral tongue squamous cell carcinoma"], "xref": ["GARD:0025133", "NCIT:C8169", "Orphanet:457252"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018709", "name": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012715", "MEDGEN:1814468", "Orphanet:457260", "UMLS:C5681121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018710", "name": "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017805", "MEDGEN:1814470", "Orphanet:457359", "UMLS:C5681123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018711", "name": "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021906", "MEDGEN:1805563", "Orphanet:457365", "UMLS:C5681124"]}
{"category": ["biolink:Disease"], "description": "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.", "id": "MONDO:0018712", "name": "Composite hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["composite hemangioendothelioma"], "xref": ["GARD:0021907", "MEDGEN:220987", "NCIT:C45475", "Orphanet:458758", "SCTID:403984006", "UMLS:C1304513"]}
{"category": ["biolink:Disease"], "description": "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.", "id": "MONDO:0018713", "name": "Retiform hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hobnail hemangioendothelioma", "retiform hemangioendothelioma"], "xref": ["GARD:0021908", "MEDGEN:266274", "NCIT:C27511", "Orphanet:458763", "SCTID:403982005", "UMLS:C1304512"]}
{"category": ["biolink:Disease"], "description": "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.", "id": "MONDO:0018714", "name": "Primary intralymphatic angioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dabska tumor", "Dabska tumour", "PILA", "malignant endothelial papillary angioendothelioma", "papillary Endovascular angioendothelioma", "papillary intralymphatic angioendothelioma", "pila"], "xref": ["GARD:0021909", "ICDO:9135/1", "MEDGEN:138037", "NCIT:C7526", "Orphanet:458768", "UMLS:C0346087", "icd11.foundation:432094068"]}
{"category": ["biolink:Disease"], "description": "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).", "id": "MONDO:0018715", "name": "Congenital hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital hemangioma"], "xref": ["GARD:0021910", "MEDGEN:65912", "NCIT:C3841", "Orphanet:458775", "SCTID:32361000119104", "UMLS:C0235753"]}
{"category": ["biolink:Disease"], "description": "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion", "id": "MONDO:0018716", "name": "Partially involuting congenital hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PICH"], "xref": ["GARD:0021911", "MEDGEN:1672492", "NCIT:C172209", "Orphanet:458785", "UMLS:C4733501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018717", "name": "Mixed cystic lymphatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["mixed cystic lymphangioma"], "xref": ["GARD:0021912", "MEDGEN:1805965", "Orphanet:458792", "UMLS:C5680000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018724", "name": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017815", "MEDGEN:1811349", "Orphanet:459070", "UMLS:C5687848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018725", "name": "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["7q36.3 microduplication syndrome", "dup(7)(q36.3)"], "xref": ["GARD:0021918", "MEDGEN:1801729", "Orphanet:459074", "UMLS:C5679998"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018733", "name": "Intellectual disability syndrome due to a dyrk1a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DYRK1A-related intellectual disability syndrome due to a point mutation"], "xref": ["GARD:0021926", "MEDGEN:1826160", "Orphanet:464311", "UMLS:C5679991"]}
{"category": ["biolink:Disease"], "description": "A skin hemangioma characterized by the presence of epidermal hyperplasia.", "id": "MONDO:0018734", "name": "Verrucous hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["verrucous keratotic hemangioma", "verrucous keratotic hemangioma (morphologic abnormality)"], "xref": ["DOID:470", "GARD:0021927", "ICDO:9142/0", "MEDGEN:90802", "NCIT:C4299", "Orphanet:464318", "UMLS:C0334540"]}
{"category": ["biolink:Disease"], "description": "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.", "id": "MONDO:0018735", "name": "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DKFZp434L132", "MALT1 wt allele", "MLT", "MLT1", "cutaneovisceral angiomatosis-thrombocytopenia syndrome", "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele", "multifocal lymphangioendotheliomatosis with thrombocytopenia"], "xref": ["GARD:0010467", "MEDGEN:1804470", "NCIT:C60672", "Orphanet:464321", "UMLS:C5575322"]}
{"category": ["biolink:Disease"], "description": "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.", "id": "MONDO:0018736", "name": "Kaposiform lymphangiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0013451", "MEDGEN:1807991", "Orphanet:464329", "UMLS:C5681097", "icd11.foundation:1139222402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018737", "name": "Catastrophic antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAPS", "caps", "catastrophic APS"], "xref": ["GARD:0009820", "ICD9:289.81", "MEDGEN:783641", "NANDO:1200270", "Orphanet:464343", "SCTID:609329007", "UMLS:C3662487"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the metanephros.", "id": "MONDO:0018738", "name": "Benign metanephric tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021928", "MEDGEN:1830110", "NCIT:C157748", "Orphanet:464359", "UMLS:C5681098"]}
{"category": ["biolink:Disease"], "description": "A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.", "id": "MONDO:0018739", "name": "Neonatal alloimmune neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021929", "MEDGEN:543869", "Orphanet:464370", "SCTID:14333004", "UMLS:C0272176"]}
{"category": ["biolink:Disease"], "description": "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).", "id": "MONDO:0018740", "name": "Drug-induced methemoglobinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["drug induced methemoglobinemia"], "xref": ["GARD:0021930", "MEDGEN:632786", "NCIT:C101045", "Orphanet:464453", "SCTID:191390009", "UMLS:C0472781", "icd11.foundation:746336827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018741", "name": "Paracetamol poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acetaminophen poisoning"], "xref": ["ICD9:965.4", "Orphanet:464458", "SCTID:70273001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018742", "name": "Familial gastric type 1 neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["familial type 1 gNET", "hereditary type 1 gNET"], "xref": ["GARD:0021932", "MEDGEN:1826112", "Orphanet:464756", "UMLS:C5681095"]}
{"category": ["biolink:Disease"], "description": "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).", "id": "MONDO:0018744", "name": "Oligodendroglial tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["oligodendroglial neoplasm", "oligodendroglial tumor"], "xref": ["GARD:0013156", "MEDGEN:233266", "NCIT:C6960", "Orphanet:46484", "UMLS:C1335110"]}
{"category": ["biolink:Disease"], "description": "Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.", "id": "MONDO:0018746", "name": "Mucous membrane pemphigoid", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mucosynechial pemphigoid", "benign mucous Membrane pemphigoid", "cicatricial pemphigoid", "mucosal pemphigoid"], "xref": ["DOID:11656", "EFO:1000680", "GARD:0005913", "ICD10CM:L12.1", "ICD9:694.6", "ICD9:694.61", "MEDGEN:10619", "MedDRA:10057052", "NANDO:1200634", "NCIT:C34907", "Orphanet:46486", "SCTID:34250006", "SCTID:76092003", "UMLS:C0030804", "icd11.foundation:1456138933"]}
{"category": ["biolink:Disease"], "description": "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.", "id": "MONDO:0018747", "name": "Acquired epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBA", "acquired epidermolysis bullosa", "epidermolysis bullosa Aquisita", "epidermolysis bullosa acquisita"], "xref": ["DOID:4313", "EFO:1000691", "GARD:0006360", "ICD10CM:L12.3", "ICD9:695.19", "MEDGEN:37178", "MESH:D016107", "MedDRA:10056508", "NANDO:1200635", "NCIT:C84690", "Orphanet:46487", "SCTID:2772003", "UMLS:C0079293", "icd11.foundation:2034586329"]}
{"category": ["biolink:Disease"], "description": "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).", "id": "MONDO:0018748", "name": "Linear iga dermatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0009313", "GARD:0018834", "MEDGEN:473106", "MESH:D062027", "MedDRA:10024515", "Orphanet:46488", "SCTID:95330001", "UMLS:C0406650", "icd11.foundation:1802341051"]}
{"category": ["biolink:Disease"], "description": "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.", "id": "MONDO:0018749", "name": "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPFH-beta-thalassemia syndrome"], "xref": ["GARD:0018642", "HGNC:3627", "HGNC:5153", "MEDGEN:543715", "Orphanet:46532", "UMLS:C0271994", "icd11.foundation:418601307"]}
{"category": ["biolink:Disease"], "description": "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.", "id": "MONDO:0018751", "name": "Hereditary otorhinolaryngologic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic otorhinolaryngologic disease"], "xref": ["GARD:0021935", "MEDGEN:1842579", "Orphanet:466084", "UMLS:C5681130"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018752", "name": "Exercise-induced malignant hyperthermia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Exertional heat stroke"], "xref": ["GARD:0021936", "MEDGEN:1814609", "Orphanet:466650", "SCTID:735907005", "UMLS:C5700399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018754", "name": "Cyanide poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["ICD9:989.0", "Orphanet:466670", "SCTID:66207005"]}
{"category": ["biolink:Disease"], "description": "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.", "id": "MONDO:0018755", "name": "Scorpion envenomation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["poisoning caused by scorpion venom", "poisoning due to scorpion venom", "toxic effect of venom of scorpion"], "xref": ["GARD:0021939", "ICD10CM:T63.2", "Orphanet:466677", "SCTID:217670007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018756", "name": "Euthyroid graves orbitopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["euthyroid Graves ophthalmopathy"], "xref": ["DOID:0081120", "GARD:0021940", "MEDGEN:1803712", "Orphanet:466682", "UMLS:C5680004"]}
{"category": ["biolink:Disease"], "description": "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.", "id": "MONDO:0018757", "name": "Supratip dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021941", "MEDGEN:1807664", "Orphanet:466695", "UMLS:C5681127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018759", "name": "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021942", "MEDGEN:1800286", "Orphanet:466921", "UMLS:C5568863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018760", "name": "Desanto-shinawi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"], "xref": ["DOID:0081126", "GARD:0017838", "MEDGEN:908218", "Orphanet:466943", "UMLS:C4225239"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018761", "name": "Smarca4-deficient sarcoma of thorax", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SMARCA4-deficient thoracic sarcoma"], "xref": ["DOID:0080532", "GARD:0021943", "MEDGEN:1806595", "NCIT:C183115", "Orphanet:466962", "UMLS:C5554190"]}
{"category": ["biolink:Disease"], "description": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.", "id": "MONDO:0018762", "name": "Non-acquired combined pituitary hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital combined pituitary hormone deficiency", "congenital hypopituitarism"], "xref": ["GARD:0002252", "MEDGEN:1842250", "NANDO:2200312", "Orphanet:467", "UMLS:C5680091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018763", "name": "Tubulinopathy-associated dysgyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"], "xref": ["GARD:0021944", "MEDGEN:1800273", "Orphanet:467166", "UMLS:C5568850"]}
{"category": ["biolink:Disease"], "description": "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.", "id": "MONDO:0018764", "name": "Microcephalic primordial dwarfism due to rttn deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017841", "MEDGEN:766745", "OMIM:614833", "Orphanet:468631", "UMLS:C3553831"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018765", "name": "Cryptogenic multifocal ulcerous stenosing enteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMUSE"], "xref": ["GARD:0021945", "MEDGEN:927932", "Orphanet:468635", "SCTID:722849002", "UMLS:C4302263", "icd11.foundation:1401898155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018766", "name": "Chronic enteropathy associated with slco2a1 gene", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CEAS"], "xref": ["GARD:0021946", "MEDGEN:1800261", "NANDO:2100261", "NANDO:2200925", "Orphanet:468641", "UMLS:C5568838"]}
{"category": ["biolink:Disease"], "description": "Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.", "id": "MONDO:0018767", "name": "Severe primary trimethylaminuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080361", "GARD:0006447", "HP:0003614", "MEDGEN:1814174", "MESH:C536561", "OMIM:602079", "Orphanet:468726", "UMLS:C5575503"]}
{"category": ["biolink:Disease"], "description": "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.", "id": "MONDO:0018768", "name": "Familial cold autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FCAS", "FCU", "familial cold autoinflammatory syndrome"], "xref": ["DOID:0090061", "GARD:0009535", "MEDGEN:137986", "MedDRA:10064570", "NANDO:1200466", "NANDO:2200449", "NANDO:2200454", "NANDO:2201068", "NCIT:C119053", "NORD:1122", "OMIMPS:120100", "Orphanet:47045", "UMLS:C0343068", "icd11.foundation:1932140025"]}
{"category": ["biolink:Disease"], "description": "An intestinal infection with Isospora belli.", "id": "MONDO:0018769", "name": "Isosporiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cystoisospora belli caused disease or disorder", "Cystoisospora belli disease or disorder", "Cystoisospora belli infectious disease", "Isosporosis", "cystoisosporiasis"], "xref": ["DOID:2112", "EFO:0007232", "GARD:0003033", "ICD10CM:A07.3", "MEDGEN:90233", "MESH:D021865", "MedDRA:10023076", "NCIT:C4076", "Orphanet:472", "SCTID:371423007", "UMLS:C0311386", "icd11.foundation:137713224"]}
{"category": ["biolink:Disease"], "description": "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes.", "id": "MONDO:0018770", "name": "Jeune syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Asphyxiating Thoracic Dystrophy", "JATD", "Jeune asphyxiating thoracic dystrophy", "Jeune syndrome", "asphyxiating thoracic dystrophy of the newborn", "short-rib thoracic dysplasia", "thoracic pelvic phalangeal dystrophy"], "xref": ["DOID:0050592", "GARD:0003049", "MEDGEN:78548", "MESH:C537571", "MedDRA:10057621", "NCIT:C84794", "NORD:1074", "OMIMPS:208500", "Orphanet:474", "SCTID:75049004", "UMLS:C0265275", "icd11.foundation:554018956"]}
{"category": ["biolink:Disease"], "description": "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", "id": "MONDO:0018772", "name": "Joubert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPD IV", "Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "cerebelloparenchymal disorder IV", "classic Joubert syndrome", "pure Joubert syndrome"], "xref": ["DOID:0050777", "GARD:0006802", "MEDGEN:1876534", "NCIT:C74996", "NORD:1312", "OMIMPS:213300", "Orphanet:475", "SCTID:716997004", "UMLS:C5979921", "icd11.foundation:1414756318"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018776", "name": "Demyelinating hereditary motor and sensory neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["demyelinating HMSN", "demyelinating hereditary motor and sensory neuropathy"], "xref": ["GARD:0021952", "MEDGEN:1843348", "Orphanet:476116", "UMLS:C5680106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018777", "name": "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021953", "MEDGEN:1800225", "Orphanet:476119", "UMLS:C5568802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018778", "name": "Intermediate charcot-marie-tooth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease intermediate type", "Intermediate hereditary motor and sensory neuropathy"], "xref": ["DOID:0050543", "GARD:0021954", "MEDGEN:1826149", "NANDO:1200019", "Orphanet:476123", "UMLS:C5680108", "icd11.foundation:1389094589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018780", "name": "Congenital generalized hypercontractile muscle stiffness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021956", "MEDGEN:1799212", "Orphanet:476406", "UMLS:C5567789"]}
{"category": ["biolink:Disease"], "description": "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.", "id": "MONDO:0018781", "name": "Kid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KID/HID syndrome", "Keratitis Ichthyosis Deafness Syndrome", "Senter syndrome", "ichthyosis hystrix Rheydt type", "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome"], "xref": ["GARD:0003113", "ICD9:759.89", "MEDGEN:777082", "MESH:C536168", "MedDRA:10048786", "NANDO:1200621", "NANDO:2200996", "NORD:1326", "OMIMPS:148210", "Orphanet:477", "SCTID:2625009", "UMLS:C3665333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018783", "name": "Fibroblastic rheumatism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021958", "ICD9:729.0", "MEDGEN:724307", "Orphanet:477650", "SCTID:399964004", "UMLS:C1302753", "icd11.foundation:112300601"]}
{"category": ["biolink:Disease"], "description": "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.", "id": "MONDO:0018784", "name": "Pediatric multiple sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010443", "MEDGEN:1799994", "Orphanet:477738", "UMLS:C5568571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018793", "name": "Primary condylar hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["type 1 condylar hyperplasia"], "xref": ["GARD:0021966", "MEDGEN:1799993", "Orphanet:477781", "UMLS:C5568570"]}
{"category": ["biolink:Disease"], "description": "An inherited bleeding disorder caused by a variation in the PLA2G4A gene, characterized by impaired arachidonic acid release, leading to markedly reduced thromboxane A2 and eicosanoid production, which causes dysfunctional platelet aggregation and mucocutaneous bleeding. Affected individuals develop early-onset gastrointestinal ulceration with recurrent bleeding, alongside laboratory evidence of impaired collagen-induced aggregation that is rescued by exogenous arachidonic acid. Loss-of-function PLA2G4A variants abolish cPLA2alpha activity in platelets and other cells, and functional studies demonstrate absent AA-dependent eicosanoid synthesis and prolonged bleeding time.", "id": "MONDO:0018794", "name": "Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PLA2G4A-related platelet dysfunction", "PLA2G4A-related platelet dysfunction with gastrointestinal ulceration", "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"], "xref": ["GARD:0017857", "MEDGEN:1799074", "OMIM:618372", "Orphanet:477787", "UMLS:C5567651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018795", "name": "Syndromic constitutional thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["syndromic constitutional thrombocytopenia"], "xref": ["GARD:0021967", "MEDGEN:1843101", "Orphanet:477794", "UMLS:C5681257"]}
{"category": ["biolink:Disease"], "description": "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).", "id": "MONDO:0018800", "name": "Kallmann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Olfacto-genital pathological sequence", "congenital hypogonadotropic hypogonadism with anosmia", "hypogonadotropic hypogonadism with anosmia"], "xref": ["DOID:3614", "GARD:0010771", "ICD9:253.4", "MEDGEN:102469", "MESH:D017436", "MedDRA:10053142", "NANDO:2200381", "NCIT:C75479", "NORD:1319", "Orphanet:478", "SCTID:93559003", "UMLS:C0162809"]}
{"category": ["biolink:Disease"], "description": "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.", "id": "MONDO:0018801", "name": "Congenital bilateral absence of vas deferens", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital bilateral agenesis of vas deferens", "congenital bilateral aplasia of vas deferens"], "xref": ["DOID:0111862", "GARD:0005461", "ICD9:752.89", "MEDGEN:400764", "MedDRA:10010670", "OMIMPS:277180", "Orphanet:48", "SCTID:275416002", "UMLS:C1865433"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018804", "name": "Myo5b-related progressive familial intrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MYO5B deficiency"], "xref": ["GARD:0021972", "MEDGEN:1826070", "Orphanet:480491", "UMLS:C5680100"]}
{"category": ["biolink:Disease"], "description": "Cystic dilatation of the hepatic duct or bile duct.", "id": "MONDO:0018805", "name": "Bile duct cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bile duct cysts", "choledochal cyst", "choledochal cysts", "choledochocele", "congenital cystic dilatation of the biliary tract"], "xref": ["DOID:899", "GARD:0021973", "ICD10CM:Q44.4", "ICD9:576.8", "ICD9:751.69", "MEDGEN:3037", "MESH:D015529", "OMIM:603003", "Orphanet:480501", "SCTID:397868007", "UMLS:C0008340", "icd11.foundation:819487805"]}
{"category": ["biolink:Disease"], "description": "A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes.", "id": "MONDO:0018806", "name": "Primary intrahepatic lithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PIHL", "primary hepatolithiasis"], "xref": ["GARD:0021974", "MEDGEN:1814175", "Orphanet:480506", "UMLS:C5576557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018807", "name": "Idiopathic ductopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IAD", "idiopathic adult ductopenia"], "xref": ["GARD:0021975", "MEDGEN:1814697", "Orphanet:480512", "UMLS:C5702661"]}
{"category": ["biolink:Disease"], "description": "A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.", "id": "MONDO:0018808", "name": "Caroli syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0081394", "GARD:0021976", "MEDGEN:1814547", "NANDO:2200934", "Orphanet:480520", "UMLS:C5700203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018809", "name": "Idiopathic peliosis hepatis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic peliosis hepatitis"], "xref": ["GARD:0021977", "MEDGEN:1814452", "Orphanet:480524", "UMLS:C5680101"]}
{"category": ["biolink:Disease"], "description": "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.", "id": "MONDO:0018810", "name": "Lethal hydranencephaly-diaphragmatic hernia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021978", "MEDGEN:1798950", "Orphanet:480528", "UMLS:C5567527"]}
{"category": ["biolink:Disease"], "description": "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.", "id": "MONDO:0018811", "name": "Congenital portosystemic shunt", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital portosystemic venous fistula"], "xref": ["GARD:0021979", "MEDGEN:712860", "Orphanet:480531", "UMLS:C1290495", "icd11.foundation:682625970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018813", "name": "High grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021980", "MEDGEN:1617477", "Orphanet:480541", "UMLS:C4524190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018814", "name": "Non-scid combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["non-SCID", "non-severe combined immunodeficiency"], "xref": ["MEDGEN:1842865", "Orphanet:480549", "UMLS:C5680098"]}
{"category": ["biolink:Disease"], "description": "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.", "id": "MONDO:0018815", "name": "Aneurysmal bone cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ABC", "aneurysmal bone cyst", "aneurysmal bone cyst (disease)", "aneurysmal bone cysts", "aneurysmal cyst of bone", "aneurysmal cyst of the bone"], "xref": ["EFO:1001760", "GARD:0021982", "HP:0012063", "ICD10CM:M85.5", "ICD9:733.22", "MEDGEN:57758", "MESH:D017824", "NCIT:C3516", "OMIM:606179", "Orphanet:480553", "SCTID:203468000", "UMLS:C0152244", "icd11.foundation:1603788294"]}
{"category": ["biolink:Disease"], "description": "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.", "id": "MONDO:0018816", "name": "Isolated neonatal sclerosing cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021983", "MEDGEN:1393230", "OMIM:617394", "Orphanet:480556", "UMLS:C4479344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018818", "name": "Facial diplegia with paresthesias", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["facial diplegia with paresthesias variant of GBS", "facial diplegia with paresthesias variant of Guillain-Barre syndrome", "facial diplegia with paresthesias variant of Guillain-Barré syndrome"], "xref": ["GARD:0021984", "MEDGEN:1798949", "Orphanet:480701", "UMLS:C5567526"]}
{"category": ["biolink:Disease"], "description": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.", "id": "MONDO:0018820", "name": "TANGO2 deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MECRCN", "TANGO2 Deficiency Disorder", "TANGO2 deficiency", "transport and golgi organisation protein 2 (TANGO2) deficiency", "transport and golgi organization protein 2 (TANGO2) deficiency"], "xref": ["DOID:0081386", "GARD:0013423", "MEDGEN:1798947", "NORD:1944", "OMIM:616878", "Orphanet:480864", "UMLS:C5567524"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018821", "name": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females", "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females"], "xref": ["GARD:0013638", "MEDGEN:1798946", "Orphanet:480880", "UMLS:C5567523"]}
{"category": ["biolink:Disease"], "description": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).", "id": "MONDO:0018822", "name": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017871", "MEDGEN:1798945", "Orphanet:480898", "UMLS:C5567522"]}
{"category": ["biolink:Disease"], "description": "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.", "id": "MONDO:0018824", "name": "Pyoderma gangrenosum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:8553", "GARD:0007510", "ICD10CM:L88", "ICD10WHO:L88", "ICD9:686.01", "MEDGEN:43224", "MESH:D017511", "MedDRA:10037635", "NANDO:2200437", "NORD:1638", "Orphanet:48104", "SCTID:74578003", "UMLS:C0085652", "icd11.foundation:2120746218"]}
{"category": ["biolink:Disease"], "description": "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.", "id": "MONDO:0018826", "name": "Lewis-sumner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MADSAM", "multifocal acquired demyelinating sensory and motor neuropathy"], "xref": ["GARD:0013070", "MEDGEN:798498", "MedDRA:10065580", "Orphanet:48162", "UMLS:C1695985"]}
{"category": ["biolink:Disease"], "description": "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0018827", "name": "Familial chilblain lupus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary Chilblain lupus", "hereditary chilblain lupus"], "xref": ["GARD:0017874", "MEDGEN:1807766", "OMIMPS:610448", "Orphanet:481662", "UMLS:C5688224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018828", "name": "Pseudo-torch syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pseudo-TORCH syndrome 2"], "xref": ["GARD:0017875", "MEDGEN:1373355", "OMIM:617397", "Orphanet:481665", "UMLS:C4479376"]}
{"category": ["biolink:Disease"], "description": "An instance of schizencephaly that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0018829", "name": "Familial schizencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial schizencephaly", "hereditary schizencephaly"], "xref": ["GARD:0017876", "MEDGEN:419186", "MESH:C538514", "Orphanet:481986", "UMLS:C2931870"]}
{"category": ["biolink:Disease"], "description": "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.", "id": "MONDO:0018830", "name": "Kimura disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kimura's disease", "eosinophilic lymphogranuloma"], "xref": ["DOID:7365", "EFO:1000722", "GARD:0006835", "MEDGEN:46183", "MESH:D000082242", "MESH:D000796", "MedDRA:10048640", "NCIT:C26867", "Orphanet:482", "UMLS:C0033838", "Wikipedia:Kimura's_disease", "icd11.foundation:1229046951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018832", "name": "Htra1-related autosomal dominant cerebral small vessel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HTRA1-related autosomal dominant cerebral angiopathy"], "xref": ["GARD:0017877", "MEDGEN:1799991", "Orphanet:482077", "UMLS:C5568568"]}
{"category": ["biolink:Disease"], "description": "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.", "id": "MONDO:0018835", "name": "Nodular regenerative hyperplasia of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["non-cirrhotic nodulation"], "xref": ["GARD:0010929", "ICD9:573.8", "MEDGEN:1830387", "Orphanet:48372", "SCTID:715140008", "UMLS:C5779783", "icd11.foundation:1642018758"]}
{"category": ["biolink:Disease"], "description": "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.", "id": "MONDO:0018837", "name": "Postinfectious vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018835", "MEDGEN:1376009", "Orphanet:48435", "SCTID:724063005", "UMLS:C4510302"]}
{"category": ["biolink:Disease"], "description": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.", "id": "MONDO:0018838", "name": "Lissencephaly spectrum disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Lissencephaly", "lissencephaly", "lissencephaly (disease)", "lissencephaly spectrum disorders"], "xref": ["DOID:0050453", "GARD:0012291", "HP:0001339", "MEDGEN:78604", "MESH:D054082", "MedDRA:10048911", "NANDO:1200574", "NANDO:2200817", "NCIT:C103921", "NORD:1374", "OMIMPS:607432", "Orphanet:48471", "SCTID:204036008", "UMLS:C0266463"]}
{"category": ["biolink:Disease"], "description": "An instance of schizencephaly that is acquired during the lifetime of the individual.", "id": "MONDO:0018839", "name": "Acquired schizencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["acquired schizencephaly"], "xref": ["GARD:0017879", "MEDGEN:1825983", "Orphanet:485275", "UMLS:C5681246"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.", "id": "MONDO:0018840", "name": "Isolated congenital hepatic fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Congenital Hepatic Fibrosis", "congenital hepatic fibrosis", "nonsyndromic congenital hepatic fibrosis"], "xref": ["GARD:0021995", "ICD9:777.8", "MEDGEN:40449", "MESH:C562378", "NANDO:2100267", "NANDO:2200936", "NCIT:C97071", "NORD:1225", "Orphanet:485426", "SCTID:79607001", "UMLS:C0009714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018841", "name": "Congenital bile acid synthesis defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["BASD", "bile acid synthesis defect, congenital"], "xref": ["DOID:0050674", "EFO:0009039", "GARD:0021996", "MEDGEN:1826069", "OMIMPS:607765", "Orphanet:485631", "UMLS:C5680095"]}
{"category": ["biolink:Disease"], "description": "A large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).", "id": "MONDO:0018842", "name": "Primary effusion lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEL", "body cavity-based lymphoma", "primary Effusion Lymphoma"], "xref": ["EFO:1000491", "GARD:0009247", "ICD9:202.80", "ICDO:9678/3", "MEDGEN:220953", "MESH:D054685", "MedDRA:10065857", "NCIT:C6915", "ONCOTREE:PEL", "Orphanet:48686", "SCTID:713516007", "UMLS:C1292753", "icd11.foundation:697911710"]}
{"category": ["biolink:Disease"], "description": "A embryonal carcinoma that involves the central nervous system.", "id": "MONDO:0018843", "name": "Embryonal carcinoma of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["central nervous system embryonal carcinoma", "embryonal carcinoma of CNS", "embryonal carcinoma of the CNS", "embryonal carcinoma of the central nervous system"], "xref": ["DOID:7232", "GARD:0018836", "MEDGEN:272566", "NCIT:C7010", "ONCOTREE:BEC", "Orphanet:48736", "UMLS:C1333377"]}
{"category": ["biolink:Disease"], "description": "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.", "id": "MONDO:0018844", "name": "Urachal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["urachal cyst", "urachal cyst (disease)"], "xref": ["GARD:0005425", "HP:0012618", "MEDGEN:21770", "MESH:D014496", "MedDRA:10065375", "NCIT:C85216", "Orphanet:488", "SCTID:17234001", "UMLS:C0041915", "icd11.foundation:1125432593"]}
{"category": ["biolink:Disease"], "description": "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.", "id": "MONDO:0018845", "name": "Focal myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["focal nodular myositis", "inflammatory pseudotumor of skeletal muscle"], "xref": ["GARD:0018837", "ICD9:729.1", "MEDGEN:592748", "Orphanet:48918", "SCTID:240119009", "UMLS:C0409988", "icd11.foundation:708931518"]}
{"category": ["biolink:Disease"], "description": "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.", "id": "MONDO:0018846", "name": "Penile agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Aphallia", "Aphallus", "congenital absence of penis", "penis agenesis"], "xref": ["GARD:0004272", "MEDGEN:278031", "MESH:C536649", "NCIT:C99009", "Orphanet:49", "SCTID:59981001", "UMLS:C1387005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018847", "name": "Omphalomesenteric cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004081", "MEDGEN:120570", "Orphanet:490", "SCTID:80880002", "UMLS:C0266180"]}
{"category": ["biolink:Disease"], "description": "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.", "id": "MONDO:0018848", "name": "Igg4-related retroperitoneal fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Ormond disease", "Retroperitoneal Fibrosis", "idiopathic retroperitoneal fibrosis", "retroperitoneal fibrosis"], "xref": ["GARD:0009568", "ICD9:593.4", "MEDGEN:20554", "MESH:D012185", "MedDRA:10038979", "NCIT:C26876", "NORD:1665", "Orphanet:49041", "SCTID:197808006", "UMLS:C0035357", "icd11.foundation:900354709"]}
{"category": ["biolink:Disease"], "description": "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.", "id": "MONDO:0018849", "name": "Dentinogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DGI", "DGI without OI", "DI", "dentinogenesis imperfecta", "dentinogenesis imperfecta (disease)", "dentinogenesis imperfecta without osteogenesis imperfecta", "non-syndromic DGI", "non-syndromic dentinogenesis imperfecta", "opalescent teeth without OI", "opalescent teeth without osteogenesis imperfecta"], "xref": ["DOID:4154", "GARD:0006258", "HP:0000703", "ICD9:520.5", "MEDGEN:8313", "MESH:D003811", "MedDRA:10054013", "NCIT:C84667", "Orphanet:49042", "SCTID:196286005", "UMLS:C0011436", "icd11.foundation:2090257992"]}
{"category": ["biolink:Disease"], "description": "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.", "id": "MONDO:0018850", "name": "Proliferating trichilemmal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Pilar cyst", "Pilar tumor", "Pilar tumour", "proliferating Pilar tumor", "proliferating Pilar tumour", "proliferating Tricholemmal tumor", "proliferating Tricholemmal tumour", "proliferating trichilemmal tumor", "proliferating trichilemmal tumour"], "xref": ["GARD:0004509", "ICDO:8103/0", "ICDO:8103/1", "MEDGEN:754766", "NCIT:C27125", "ONCOTREE:PPCT", "Orphanet:492", "SCTID:254678009", "UMLS:C2959585"]}
{"category": ["biolink:Disease"], "description": "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.", "id": "MONDO:0018851", "name": "Familial keratoacanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary keratoacanthoma", "multiple keratoacanthoma"], "xref": ["GARD:0018693", "MEDGEN:1843863", "Orphanet:493", "SCTID:716774008", "UMLS:C5848325"]}
{"category": ["biolink:Disease"], "description": "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.", "id": "MONDO:0018852", "name": "Achromatopsia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACHM", "Pingelapese blindness", "Rod monochromacy", "Rod monochromatism", "achromatopsia", "complete or incomplete color blindness", "complete or incomplete colour blindness", "total color blindness", "total colour blindness"], "xref": ["DOID:13911", "GARD:0015015", "ICD10CM:H53.51", "ICD9:368.54", "MEDGEN:57751", "MedDRA:10000454", "NCIT:C84528", "Orphanet:49382", "SCTID:102450007", "UMLS:C0152200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018853", "name": "Transgrediens et progrediens palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Greither disease", "keratosis extremitatum hereditaria progrediens", "keratosis palmoplantaris transgrediens et progrediens", "progressive diffuse PPK", "progressive diffuse palmoplantar keratoderma", "transgrediens et progrediens PPK"], "xref": ["GARD:0003096", "MEDGEN:338702", "Orphanet:495", "UMLS:C1851480"]}
{"category": ["biolink:Disease"], "description": "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.", "id": "MONDO:0018854", "name": "Acquired purpura fulminans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acquired PF", "acquired purpura fulminans"], "xref": ["GARD:0018838", "MEDGEN:1377273", "MedDRA:10037556", "Orphanet:49566", "SCTID:725157006", "UMLS:C4510896"]}
{"category": ["biolink:Disease"], "description": "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.", "id": "MONDO:0018855", "name": "Keratosis pilaris atrophicans", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["keratosis pilaris atrophicans"], "xref": ["DOID:0080751", "GARD:0018694", "ICD9:757.39", "MEDGEN:75520", "MESH:C537412", "OMIM:604093", "Orphanet:498", "SCTID:400059005", "UMLS:C0263428", "icd11.foundation:273325594"]}
{"category": ["biolink:Disease"], "description": "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.", "id": "MONDO:0018856", "name": "Lichen amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["amyloid lichen", "lichen amyloidosus"], "xref": ["GARD:0018839", "MEDGEN:1830282", "Orphanet:49804", "SCTID:718105008", "UMLS:C5779561"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018857", "name": "Creeping myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["migratory myiasis"], "xref": ["GARD:0001609", "MEDGEN:287068", "MedDRA:10059547", "Orphanet:504", "SCTID:417441005", "UMLS:C1562462", "icd11.foundation:1282509430"]}
{"category": ["biolink:Disease"], "description": "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.", "id": "MONDO:0018858", "name": "Graham little-piccardi-lassueur syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Graham Little syndrome", "Piccardi-Lassueur-Little syndrome"], "xref": ["GARD:0003195", "MEDGEN:905915", "Orphanet:505", "SCTID:718215008", "UMLS:C4273658"]}
{"category": ["biolink:Disease"], "description": "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.", "id": "MONDO:0018860", "name": "Microlissencephaly-micromelia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Basel-Vanagaite-Sirota syndrome"], "xref": ["GARD:0018840", "MEDGEN:1377242", "Orphanet:50810", "UMLS:C4509878"]}
{"category": ["biolink:Disease"], "description": "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.", "id": "MONDO:0018861", "name": "Zellweger-like syndrome without peroxisomal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AHN-Lerman-Sagie syndrome"], "xref": ["GARD:0018841", "MEDGEN:930773", "Orphanet:50812", "SCTID:718880003", "UMLS:C4305104", "icd11.foundation:697302760"]}
{"category": ["biolink:Disease"], "description": "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.", "id": "MONDO:0018864", "name": "Kikuchi-fujimoto disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kikuchi disease", "histiocytic necrotizing lymphadenitis"], "xref": ["GARD:0006834", "MEDGEN:97979", "MESH:D020042", "NCIT:C71719", "Orphanet:50918", "SCTID:127217009", "UMLS:C0398367"]}
{"category": ["biolink:Disease"], "description": "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.", "id": "MONDO:0018865", "name": "Striate palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["keratosis palmoplantaris striata", "keratosis palmoplantaris striata et areata", "keratosis palmoplantaris varians of Wachters"], "xref": ["DOID:0081105", "GARD:0015016", "MEDGEN:1631598", "Orphanet:50942", "SCTID:764958008", "UMLS:C4707237", "icd11.foundation:1171134598"]}
{"category": ["biolink:Disease"], "description": "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.", "id": "MONDO:0018866", "name": "Aicardi-goutieres syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Aicardi Goutieres syndrome", "Aicardi-Goutières Syndrome", "Cree encephalitis", "encephalopathy with basal ganglia calcification", "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid"], "xref": ["DOID:0050629", "GARD:0000575", "ICD9:333.0", "MEDGEN:97953", "MESH:C535607", "NANDO:1200996", "NANDO:2100244", "NANDO:2200893", "NORD:111728", "OMIMPS:225750", "Orphanet:51", "SCTID:230312006", "UMLS:C0393591"]}
{"category": ["biolink:Disease"], "description": "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.", "id": "MONDO:0018868", "name": "Metachromatic leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MLD", "arylsulfatase A deficiency"], "xref": ["DOID:10581", "GARD:0003230", "ICD10CM:E75.25", "MEDGEN:6071", "MESH:D007966", "MedDRA:10067609", "NANDO:1200078", "NANDO:2200560", "NCIT:C61251", "NORD:1369", "Orphanet:512", "SCTID:238031009", "SCTID:396338004", "SCTID:66521008", "UMLS:C0023522", "icd11.foundation:172326564"]}
{"category": ["biolink:Disease"], "description": "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.", "id": "MONDO:0018869", "name": "Cobblestone lissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["lissencephaly type 2"], "xref": ["GARD:0003277", "MEDGEN:96562", "MESH:D054222", "NANDO:1201072", "Orphanet:51577", "SCTID:253149002", "UMLS:C0431376"]}
{"category": ["biolink:Disease"], "description": "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.", "id": "MONDO:0018870", "name": "Arterial calcification of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Generalized Arterial Calcification of Infancy", "generalised arterial calcification of infancy", "generalized arterial calcification of infancy", "idiopathic infantile arterial calcification", "idiopathic obliterative arteriopathy", "infantile arteriosclerosis", "occlusive infantile arteriopathy"], "xref": ["DOID:0050644", "GARD:0008380", "MEDGEN:395331", "MESH:C537440", "NORD:2001", "OMIMPS:208000", "Orphanet:51608", "UMLS:C1859727", "icd11.foundation:934461548"]}
{"category": ["biolink:Disease"], "description": "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)", "id": "MONDO:0018871", "name": "Acute myelomonocytic leukemia m4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AML M4", "AMML", "AMMoL", "acute M4 myeloid leukaemia", "acute M4 myeloid leukemia", "acute myelomonocytic leukaemia", "acute myelomonocytic leukaemia (FAB type M4)", "acute myelomonocytic leukemia", "acute myelomonocytic leukemia (FAB type M4)"], "xref": ["DOID:0081082", "EFO:0000223", "GARD:0000529", "ICD10CM:C92.5", "ICDO:9867/3", "MEDGEN:9732", "MedDRA:10000890", "NCIT:C7463", "ONCOTREE:AMML", "Orphanet:517", "SCTID:110005000", "UMLS:C0023479", "icd11.foundation:1613358778"]}
{"category": ["biolink:Disease"], "description": "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.", "id": "MONDO:0018872", "name": "Acute megakaryoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMKL", "AML M7", "FAB M7", "acute M7 myeloid leukaemia", "acute M7 myeloid leukemia", "acute megakaryoblastic leukaemia (FAB type M7)", "acute megakaryoblastic leukemia", "acute megakaryoblastic leukemia (FAB type M7)", "acute megakaryoblastic leukemia, FAB M7", "acute megakaryocytic leukaemia", "acute megakaryocytic leukemia", "acute megakaryocytic leukemias", "acute myeloid leukaemia M7", "acute myeloid leukemia M7", "leukemia, megakaryocytic, malignant", "thrombocytic leukemia"], "xref": ["DOID:8761", "EFO:0003025", "GARD:0000524", "ICD10CM:C94.2", "ICD9:207.2", "ICDO:9910/3", "MEDGEN:44124", "MESH:D007947", "MedDRA:10060556", "NANDO:2200011", "NCIT:C3170", "ONCOTREE:AMKL", "Orphanet:518", "SCTID:277602003", "UMLS:C0023462", "Wikipedia:Acute_megakaryoblastic_leukemia", "icd11.foundation:2057381869"]}
{"category": ["biolink:Disease"], "description": "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.", "id": "MONDO:0018873", "name": "Anterior cutaneous nerve entrapment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ACNES", "intercostal nerve syndrome", "rectus abdominis syndrome"], "xref": ["GARD:0018843", "MEDGEN:581659", "Orphanet:51890", "UMLS:C0393899"]}
{"category": ["biolink:Disease"], "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.", "id": "MONDO:0018874", "name": "Acute myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AML", "AML - acute myeloid leukaemia", "AML - acute myeloid leukemia", "ANLL", "acute Nonlymphocytic leukaemia", "acute Nonlymphocytic leukemia", "acute granulocytic leukaemia", "acute granulocytic leukemia", "acute myeloblastic leukemia", "acute myelocytic leukaemia", "acute myelocytic leukemia", "acute myelogenous leukemia", "acute myelogenous leukemias", "acute myeloid leukaemia (AML)", "acute myeloid leukemia", "acute myeloid leukemia (AML)", "acute myeloid leukemia, somatic", "acute nonlymphocytic leukaemia", "acute nonlymphocytic leukemia", "hematopoeitic - acute Myleogenous leukaemia (AML)", "hematopoeitic - acute Myleogenous leukemia (AML)", "leukemia, acute myeloid, autosomal dominant, somatic mutation", "leukemia, acute myeloid, reduced survival in, somatic", "leukemia, acute myeloid, somatic", "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "leukemia, myelocytic, acute", "myeloid leukemia, acute", "myeloid leukemia, acute, M4/M4Eo subtype, somatic"], "xref": ["DOID:9119", "EFO:0000222", "GARD:0012757", "ICD10CM:C92.0", "ICD9:205.0", "ICD9:205.00", "ICDO:9861/3", "MEDGEN:9730", "MESH:D015470", "MedDRA:10000880", "NCIT:C3171", "NORD:1905", "OMIM:601626", "ONCOTREE:AML", "Orphanet:519", "SCTID:91861009", "UMLS:C0023467"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.", "id": "MONDO:0018875", "name": "Li-fraumeni syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["LFS", "Li Fraumeni syndrome", "Li-Fraumeni familial cancer susceptibility syndrome", "Li-Fraumeni syndrome", "Li-Fraumeni syndrome caused by mutation in TP53", "SBLA syndrome", "TP53 Li-Fraumeni syndrome", "TP53-related Li-Fraumeni syndrome", "sarcoma, breast, leukemia and adrenal gland syndrome"], "xref": ["DOID:0111503", "DOID:3012", "GARD:0006902", "ICD9:V84.01", "MEDGEN:88399", "MESH:D016864", "MedDRA:10066795", "NCIT:C3476", "NORD:1913", "OMIM:151623", "OMIM:609266", "Orphanet:524", "SCTID:428850001", "UMLS:C0085390", "icd11.foundation:1968061860"]}
{"category": ["biolink:Disease"], "description": "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.", "id": "MONDO:0018876", "name": "Mantle cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCM", "MCL", "classical mantle cell lymphoma", "mantle cell lymphoma", "mantle zone lymphoma"], "xref": ["DOID:0050746", "EFO:1001469", "GARD:0006969", "ICD10CM:C83.1", "ICD9:200.40", "ICDO:9673/3", "MEDGEN:1668377", "MESH:D020522", "MedDRA:10061275", "NCIT:C4337", "NORD:1399", "ONCOTREE:MCL", "Orphanet:52416", "SCTID:443487006", "UMLS:C4721414", "icd11.foundation:1804127841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018877", "name": "Retinitis punctata albescens", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016655", "MEDGEN:278050", "Orphanet:52427", "SCTID:715562001", "UMLS:C1405854", "icd11.foundation:567796529"]}
{"category": ["biolink:Disease"], "description": "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).", "id": "MONDO:0018878", "name": "Branchiootic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060232", "GARD:0010148", "MEDGEN:1636666", "MESH:C537104", "NANDO:1200675", "OMIMPS:602588", "Orphanet:52429", "SCTID:764810000", "UMLS:C4273131"]}
{"category": ["biolink:Disease"], "description": "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.", "id": "MONDO:0018879", "name": "Lichen planopilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LPP", "follicular lichen planus", "lichen follicularis", "lichen planus follicularis"], "xref": ["GARD:0003247", "ICD10CM:L66.1", "MEDGEN:44150", "MESH:C535892", "Orphanet:525", "SCTID:64540004", "UMLS:C0023645", "icd11.foundation:572258139"]}
{"category": ["biolink:Disease"], "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)", "id": "MONDO:0018881", "name": "Myelodysplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MDS", "MDS, unclassifiable", "MDS-U", "Myelodysplastic Syndromes", "dysmyelopoietic syndrome", "hematopoeitic - myelodysplastic syndrome (MDS)", "myelodysplasia", "myelodysplastic neoplasm", "myelodysplastic syndrome", "myelodysplastic syndrome, somatic", "myelodysplastic syndrome, unclassifiable", "myelodysplastic syndrome/neoplasm", "myelodysplastic syndromes", "oligoblastic leukaemia", "oligoblastic leukemia", "preleukemia", "smoldering leukemia", "smouldering leukaemia"], "xref": ["DOID:0050908", "EFO:0000198", "GARD:0007132", "ICD10CM:D46", "ICD9:238.7", "ICD9:238.75", "ICDO:9989/3", "MEDGEN:483005", "MedDRA:10028532", "NANDO:2100003", "NANDO:2200019", "NCIT:C3247", "NORD:1480", "OMIM:614286", "ONCOTREE:MDS", "Orphanet:52688", "SCTID:109995007", "UMLS:C3463824"]}
{"category": ["biolink:Disease"], "description": "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.", "id": "MONDO:0018882", "name": "Vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:865", "EFO:0006803", "GARD:0018844", "MEDGEN:12054", "MESH:D014657", "MedDRA:10036023", "MedDRA:10047115", "NCIT:C26912", "Orphanet:52759", "SCTID:31996006", "UMLS:C0042384", "Wikipedia:Vasculitis", "icd11.foundation:572581721"]}
{"category": ["biolink:Disease"], "description": "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.", "id": "MONDO:0018883", "name": "Berardinelli-seip congenital lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSCL", "Beradinelli-Seip syndrome", "Berardinelli Seip syndrome", "Berardinelli lipodystrophy syndrome", "Brunzell syndrome", "GCL", "Seip-Bernardinelli syndrome", "generalised congenital lipodystrophy", "generalized congenital lipodystrophy", "total lipodystrophy"], "xref": ["GARD:0013388", "ICD9:250.80", "MedDRA:10024603", "NANDO:1200859", "NANDO:2200465", "NCIT:C84594", "Orphanet:528", "icd11.foundation:1628738474", "icd11.foundation:641763399"]}
{"category": ["biolink:Disease"], "description": "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.", "id": "MONDO:0018884", "name": "Roch-leri mesosomatous lipomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004733", "MEDGEN:896565", "Orphanet:529", "SCTID:716772007", "UMLS:C4274284"]}
{"category": ["biolink:Disease"], "description": "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.", "id": "MONDO:0018885", "name": "Orbital leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018845", "MEDGEN:930669", "Orphanet:52994", "SCTID:719045009", "UMLS:C4305000", "icd11.foundation:614302400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018889", "name": "Hyaline body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["myosin storage myopathy"], "xref": ["DOID:0111267", "GARD:0007148", "Orphanet:53698", "icd11.foundation:352828432"]}
{"category": ["biolink:Disease"], "description": "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.", "id": "MONDO:0018890", "name": "Lyell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0018696", "Orphanet:537"]}
{"category": ["biolink:Disease"], "description": "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.", "id": "MONDO:0018891", "name": "Familial tumoral calcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0009385", "GARD:0010877", "MEDGEN:452340", "MedDRA:10059364", "Orphanet:53715", "UMLS:C0263628"]}
{"category": ["biolink:Disease"], "description": "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.", "id": "MONDO:0018892", "name": "Wyburn-mason syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CAMS2", "Cerebrofacial arteriovenous metameric syndrome type 2", "bonnet-Dechaume-Blanc syndrome"], "xref": ["GARD:0007900", "MEDGEN:120534", "MESH:C536752", "MedDRA:10048661", "NORD:1863", "Orphanet:53719", "SCTID:6729006", "UMLS:C0265321"]}
{"category": ["biolink:Disease"], "description": "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.", "id": "MONDO:0018893", "name": "Cobb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Cobb's syndrome", "SAMS 1-31", "cutaneomeningospinal angiomatosis", "spinal arteriovenous metameric syndrome"], "xref": ["GARD:0011892", "ICD9:239.2", "MEDGEN:91079", "MedDRA:10068841", "NCIT:C4485", "Orphanet:53721", "SCTID:254774003", "UMLS:C0346068", "icd11.foundation:1451924695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018894", "name": "Distal hereditary motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dHMN", "dSMA", "distal spinal muscular atrophy", "neuronopathy, distal hereditary motor"], "xref": ["GARD:0012683", "MEDGEN:98274", "Orphanet:53739", "SCTID:230247001", "UMLS:C0393541"]}
{"category": ["biolink:Disease"], "description": "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.", "id": "MONDO:0018895", "name": "Plummer-vinson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kelly-Paterson syndrome", "Sideropenic dysphagia"], "xref": ["GARD:0008259", "ICD10CM:D50.1", "ICD9:280.8", "MEDGEN:45967", "MESH:D011004", "MedDRA:10040664", "NCIT:C85016", "Orphanet:54028", "SCTID:80126007", "UMLS:C0032249", "icd11.foundation:1568337509"]}
{"category": ["biolink:Disease"], "description": "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.", "id": "MONDO:0018896", "name": "Thrombotic thrombocytopenic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Moschcowitz disease", "Moschowitz disease", "TTP"], "xref": ["DOID:10772", "GARD:0016659", "MEDGEN:48266", "MESH:D011697", "MedDRA:10043648", "NANDO:1200316", "NANDO:2100189", "NANDO:2200649", "NCIT:C78797", "NORD:1769", "Orphanet:54057", "SCTID:78129009", "UMLS:C0034155", "icd11.foundation:1708277768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018897", "name": "Primary cutaneous cd30+ t-cell lymphoproliferative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["primary cutaneous Ki-1+ T-cell lymphoproliferative disease"], "xref": ["GARD:0018697", "MEDGEN:1843249", "MedDRA:10065863", "NCIT:C7195", "Orphanet:541", "UMLS:C5679826", "icd11.foundation:1046496266"]}
{"category": ["biolink:Disease"], "description": "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.", "id": "MONDO:0018898", "name": "Primary cutaneous lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cutaneous (skin) lymphoma", "primary cutaneous lymphoma", "primary skin lymphoma"], "xref": ["GARD:0018698", "MEDGEN:220981", "MedDRA:10051708", "NCIT:C7162", "Orphanet:542", "SCTID:400001003", "UMLS:C1302772"]}
{"category": ["biolink:Disease"], "description": "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.", "id": "MONDO:0018899", "name": "Posterior cortical atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Benson syndrome", "PCA", "biparietal Alzheimer disease"], "xref": ["GARD:0018846", "MEDGEN:909667", "Orphanet:54247", "SCTID:715574002", "UMLS:C4275079", "icd11.foundation:377572273"]}
{"category": ["biolink:Disease"], "description": "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.", "id": "MONDO:0018900", "name": "Corticosteroid-sensitive aseptic abscess syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aseptic abscesses syndrome", "aseptic systemic abscesses", "disseminated aseptic abscesses"], "xref": ["GARD:0010946", "MEDGEN:929532", "Orphanet:54251", "SCTID:720751000", "UMLS:C4303863"]}
{"category": ["biolink:Disease"], "description": "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.", "id": "MONDO:0018901", "name": "Left ventricular noncompaction", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LVNC", "Lv non-compaction syndrome", "left ventricular hypertrabeculation", "left ventricular non-compaction cardiomyopathy", "left ventricular non-compaction syndrome", "left ventricular noncompaction (disease)", "spongy myocardium"], "xref": ["DOID:0060480", "GARD:0010985", "MEDGEN:450531", "NANDO:2200231", "NCIT:C99544", "OMIMPS:604169", "Orphanet:54260", "UMLS:C1960469"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.", "id": "MONDO:0018902", "name": "Hepatocellular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCA", "adenoma of liver cells", "adenoma of the liver cells", "adenoma, hepatocellular, benign", "hepatocellular adenoma", "liver cell adenoma"], "xref": ["DOID:0050868", "EFO:0000762", "GARD:0018847", "ICDO:8170/0", "MEDGEN:61655", "MESH:D018248", "MedDRA:10019827", "NCIT:C3758", "ONCOTREE:LIAD", "Orphanet:54272", "UMLS:C0206669", "icd11.foundation:1481070735"]}
{"category": ["biolink:Disease"], "description": "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.", "id": "MONDO:0018903", "name": "Sarcocystosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sarcosporidiosis"], "xref": ["DOID:9640", "EFO:0007476", "GARD:0018848", "ICD9:136.5", "MEDGEN:48559", "MESH:D012523", "MedDRA:10039483", "Orphanet:54368", "SCTID:88905005", "UMLS:C0036231", "icd11.foundation:261748740"]}
{"category": ["biolink:Disease"], "description": "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.", "id": "MONDO:0018904", "name": "Primary membranoproliferative glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPGN", "Mesangiocapillary glomerulonephritis"], "xref": ["GARD:0011982", "ICD9:583.2", "MedDRA:10018370", "NANDO:1200725", "NANDO:2200123", "Orphanet:54370"]}
{"category": ["biolink:Disease"], "description": "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.", "id": "MONDO:0018905", "name": "Diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["DLBCL", "diffuse large B-cell lymphoma"], "xref": ["DOID:0050745", "EFO:0000403", "GARD:0003178", "ICD10CM:C83.3", "ICD9:200.7", "ICDO:9680/3", "MEDGEN:86954", "MESH:D016403", "MedDRA:10012818", "NCIT:C8851", "Orphanet:544", "UMLS:C0079744", "icd11.foundation:1946973604"]}
{"category": ["biolink:Disease"], "description": "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.", "id": "MONDO:0018906", "name": "Follicular lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["follicle center lymphoma", "follicle centre lymphoma", "follicular center cell lymphoma", "follicular centre cell lymphoma", "follicular non-Hodgkin lymphoma", "follicular non-Hodgkin's lymphoma", "lymphoma, follicular center cell", "lymphoma, follicular centre cell", "lymphoma, follicular, malignant"], "xref": ["DOID:0050873", "GARD:0002356", "HGNC:990", "ICD10CM:C82", "ICD10WHO:C82", "ICDO:9690/3", "MEDGEN:7417", "MESH:D008224", "NCIT:C3209", "NORD:1983", "ONCOTREE:FL", "Orphanet:545", "SCTID:308121000", "UMLS:C0024301", "icd11.foundation:797822185"]}
{"category": ["biolink:Disease"], "description": "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)", "id": "MONDO:0018907", "name": "Craniopharyngioma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rathke pouch neoplasm", "Rathke pouch tumor", "Rathke pouch tumour", "Rathke's pouch neoplasm", "Rathke's pouch tumor", "Rathke's pouch tumour", "craniopharyngioma (WHO grade I)", "craniopharyngioma (morphologic abnormality)", "craniopharyngioma, benign", "neoplasm of Rathke's pouch", "tumor of Rathke's pouch", "tumour of Rathke's pouch"], "xref": ["DOID:3840", "EFO:1000209", "GARD:0010486", "ICD9:237.0", "ICDO:9350/1", "MEDGEN:41339", "MESH:D003397", "MedDRA:10011318", "NANDO:2200091", "NCIT:C2964", "NORD:1996", "Orphanet:54595", "SCTID:189179009", "UMLS:C0010276"]}
{"category": ["biolink:Disease"], "description": "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.", "id": "MONDO:0018908", "name": "Non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NHL", "non-Hodgkin lymphoma", "non-Hodgkin's lymphoma", "non-Hodgkin's lymphoma (NHL)", "non-Hodgkins lymphoma"], "xref": ["DOID:0060060", "EFO:0005952", "ICDO:9591/3", "MEDGEN:6160", "MESH:D008228", "MedDRA:10029547", "NCIT:C3211", "ONCOTREE:NHL", "Orphanet:547", "UMLS:C0024305"]}
{"category": ["biolink:Disease"], "description": "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.", "id": "MONDO:0018910", "name": "Oculocutaneous albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["OCA", "non-syndromic oculocutaneous albinism", "nonsyndromic oculocutaneous albinism"], "xref": ["DOID:0050632", "GARD:0010958", "ICD10CM:E70.32", "ICD9:270.2", "MEDGEN:36250", "MESH:D016115", "NANDO:1200637", "NANDO:1200641", "NANDO:2200986", "NCIT:C84941", "NORD:1522", "OMIMPS:203100", "Orphanet:55", "SCTID:63844009", "UMLS:C0078918", "icd11.foundation:1189424097"]}
{"category": ["biolink:Disease"], "description": "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.", "id": "MONDO:0018911", "name": "Maturity-onset diabetes of the young", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MODY", "maturity onset diabetes of the young", "maturity-onset diabetes of the young", "maturity-onset diabetes of the young (disease)"], "xref": ["DOID:0050524", "GARD:0003697", "HP:0004904", "MEDGEN:87433", "MESH:C562772", "NANDO:2200462", "NCIT:C114769", "OMIM:606391", "OMIMPS:125850", "Orphanet:552", "SCTID:609561005", "UMLS:C0342276"]}
{"category": ["biolink:Disease"], "description": "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.", "id": "MONDO:0018912", "name": "Cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cushing syndrome", "Cushing's syndrome", "cortisol Excess", "hyperadrenocorticism", "pituitary basophilism", "suprarenogenic syndrome"], "xref": ["EFO:0003099", "GARD:0006224", "ICD10CM:E24", "ICD10WHO:E24", "ICD9:255.0", "MEDGEN:3681", "MESH:D003480", "MedDRA:10011652", "MedDRA:10020562", "MedDRA:10020564", "MedDRA:10020610", "NCIT:C2969", "Orphanet:553", "UMLS:C0010481", "icd11.foundation:1654321425"]}
{"category": ["biolink:Disease"], "description": "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.", "id": "MONDO:0018913", "name": "Malakoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:1001807", "GARD:0006960", "MEDGEN:44257", "MESH:D008287", "NCIT:C84833", "Orphanet:556", "SCTID:716766007", "UMLS:C0024525"]}
{"category": ["biolink:Disease"], "description": "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.", "id": "MONDO:0018914", "name": "Hypotrichosis simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009170", "MEDGEN:344257", "MESH:C537160", "Orphanet:55654", "SCTID:723362004", "UMLS:C1854310"]}
{"category": ["biolink:Disease"], "description": "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.", "id": "MONDO:0018918", "name": "Carcinoma of gallbladder and extrahepatic biliary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["carcinoma of gallbladder and EBT"], "xref": ["GARD:0018850", "MEDGEN:1797980", "MedDRA:10007426", "Orphanet:56044", "UMLS:C5566557"]}
{"category": ["biolink:Disease"], "description": "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).", "id": "MONDO:0018919", "name": "Mccune-albright syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Albright's disease", "MAS", "McCune Albright Syndrome", "McCune Albright syndrome", "gonadotropin-independent female-limited sexual precocity", "mccune-albright syndrome, somatic, mosaic"], "xref": ["DOID:1858", "GARD:0006995", "MEDGEN:69164", "NANDO:2200412", "NCIT:C48627", "NORD:1413", "OMIM:174800", "Orphanet:562", "SCTID:726029005", "UMLS:C0242292", "icd11.foundation:132749439"]}
{"category": ["biolink:Disease"], "description": "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.", "id": "MONDO:0018920", "name": "Peripartum cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["peripartum cardiomyopathy", "postpartum cardiomyopathy"], "xref": ["DOID:9997", "EFO:0002628", "GARD:0000220", "ICD10CM:O90.3", "ICD9:674.5", "ICD9:674.54", "MEDGEN:163756", "MedDRA:10049430", "NCIT:C171602", "Orphanet:563", "SCTID:62377009", "UMLS:C0877208", "icd11.foundation:1218807936"]}
{"category": ["biolink:Disease"], "description": "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.", "id": "MONDO:0018921", "name": "Meckel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meckel-Gruber syndrome"], "xref": ["DOID:0050778", "GARD:0003436", "ICD9:753.1", "ICD9:753.10", "ICD9:759.89", "MEDGEN:120513", "NCIT:C98978", "OMIMPS:249000", "Orphanet:564", "SCTID:29076005", "UMLS:C0265215", "icd11.foundation:695796893"]}
{"category": ["biolink:Disease"], "description": "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).", "id": "MONDO:0018922", "name": "Cold agglutinin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAD", "CAS", "chronic cold agglutinin disease", "cold agglutinin syndrome"], "xref": ["GARD:0006130", "ICD10CM:D59.12", "MEDGEN:688249", "NANDO:1200307", "NANDO:2200618", "NORD:775", "Orphanet:56425", "SCTID:127055007", "UMLS:C1264008"]}
{"category": ["biolink:Disease"], "description": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.", "id": "MONDO:0018923", "name": "22q11.2 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["22q11DS", "Cayler cardiofacial syndrome", "Chromosome 22q11.2 Deletion Syndrome", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "catch 22", "conotruncal anomaly face syndrome", "microdeletion 22q11.2", "monosomy 22q11"], "xref": ["DECIPHER:16", "GARD:0010299", "MedDRA:10012979", "MedDRA:10066430", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NORD:853", "Orphanet:567", "icd11.foundation:1868156761"]}
{"category": ["biolink:Disease"], "description": "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.", "id": "MONDO:0018924", "name": "Microphthalmia, lenz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lenz microphthalmia"], "xref": ["GARD:0000087", "NORD:1359", "Orphanet:568", "icd11.foundation:678242327"]}
{"category": ["biolink:Disease"], "description": "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).", "id": "MONDO:0018925", "name": "Familial or sporadic hemiplegic migraine", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hemiplegic Migraine", "familial or sporadic hemiplegic migraine", "hemiplegic migraine"], "xref": ["GARD:0010768", "ICD10CM:G43.4", "ICD9:346.30", "MEDGEN:78740", "NORD:1979", "Orphanet:569", "SCTID:59292006", "UMLS:C0270862", "icd11.foundation:1957063016"]}
{"category": ["biolink:Disease"], "description": "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms ( 5%) include iatrogenic CJD and variant CJD (vCDJ).", "id": "MONDO:0018926", "name": "Human prion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["TSE", "transmissible spongiform encephalopathy"], "xref": ["GARD:0018851", "Orphanet:56970"]}
{"category": ["biolink:Disease"], "description": "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).", "id": "MONDO:0018927", "name": "Sunct syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SUNCT headache", "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing", "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing"], "xref": ["GARD:0009257", "MEDGEN:224724", "MESH:D050798", "MedDRA:10061981", "NCIT:C85174", "Orphanet:57145", "SCTID:725058003", "UMLS:C1262087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018929", "name": "Medial condensing osteitis of the clavicle", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["condensing osteitis of the clavicle", "condensing osteitis of the medial clavicle", "osteitis condensans of the clavicle"], "xref": ["GARD:0010910", "MEDGEN:1710994", "Orphanet:57196", "UMLS:C5396729"]}
{"category": ["biolink:Disease"], "description": "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.", "id": "MONDO:0018930", "name": "Monosomy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["21q deletion syndrome", "21q- syndrome", "monosomy type 21", "partial 21q monosomy"], "xref": ["GARD:0010860", "MEDGEN:162883", "MESH:C537108", "NCIT:C36469", "Orphanet:574", "UMLS:C0795875"]}
{"category": ["biolink:Disease"], "description": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.", "id": "MONDO:0018931", "name": "Mucolipidosis type iii, alpha/beta", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ML 3 alpha/beta", "ML III alpha/beta", "MLIII", "Pseudo Hurler Polydystrophy", "mucolipidosis type 3 alpha/beta", "mucolipidosis type III", "pseudo-Hurler polydystrophy"], "xref": ["DOID:0080071", "GARD:0017704", "MEDGEN:10988", "NANDO:1200125", "NANDO:2200568", "NORD:1624", "OMIM:252600", "Orphanet:423461", "Orphanet:577", "SCTID:65764006", "UMLS:C0033788"]}
{"category": ["biolink:Disease"], "description": "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.", "id": "MONDO:0018932", "name": "Cirrhotic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0018852", "MEDGEN:1391593", "Orphanet:57777", "SCTID:725416005", "UMLS:C4511053", "icd11.foundation:1268082489"]}
{"category": ["biolink:Disease"], "description": "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.", "id": "MONDO:0018933", "name": "Mazabraud syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Myxoma with fibrous dysplasia"], "xref": ["GARD:0018853", "ICD9:215.9", "ICD9:733.29", "MEDGEN:784403", "Orphanet:57782", "SCTID:699251001", "UMLS:C3697137", "icd11.foundation:1153435718"]}
{"category": ["biolink:Disease"], "description": "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.", "id": "MONDO:0018935", "name": "Hairy cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCL", "HCL-C", "hairy cell leukemia", "leukemic reticuloendotheliosis"], "xref": ["DOID:285", "EFO:1000956", "GARD:0006560", "ICD10CM:C91.4", "ICD9:202.4", "ICDO:9940/3", "MEDGEN:9727", "MESH:D007943", "MedDRA:10019053", "MedDRA:10019055", "NCIT:C7402", "NORD:1213", "ONCOTREE:HCL", "Orphanet:58017", "SCTID:118613001", "UMLS:C0023443", "icd11.foundation:82152208"]}
{"category": ["biolink:Disease"], "description": "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.", "id": "MONDO:0018936", "name": "Osteoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["giant osteoid osteoma", "ossifying giant cell tumor", "ossifying giant cell tumour", "osteoblastoma", "osteoblastoma (disease)", "osteoblastoma, benign"], "xref": ["DOID:0060098", "GARD:0018854", "HP:0011846", "ICDO:9200/0", "MEDGEN:18212", "MESH:D018215", "MedDRA:10004430", "NCIT:C3294", "Orphanet:58040", "UMLS:C0029417", "icd11.foundation:1948326341"]}
{"category": ["biolink:Disease"], "description": "A lysosomal disease characterized by progressive neurocognitive decline, severe  intellectual deterioration, loss of functional abilities, and premature death.", "id": "MONDO:0018937", "name": "Mucopolysaccharidosis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPS3", "MPSIII", "Mucopoly-saccharidosis type 3", "Mucopolysaccharidosis Type III", "Sanfilippo disease", "Sanfilippo syndrome", "heparan sulphate sulfatase deficiency", "mucopolysaccharidosis type III"], "xref": ["DOID:12801", "GARD:0003807", "MEDGEN:6452", "MedDRA:10056890", "NANDO:1200100", "NANDO:2200549", "NCIT:C61262", "NORD:1463", "Orphanet:581", "SCTID:88393000", "UMLS:C0026706", "icd11.foundation:1477250013"]}
{"category": ["biolink:Disease"], "description": "A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.", "id": "MONDO:0018938", "name": "Mucopolysaccharidosis type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPS4", "MPSIV", "Morquio disease", "Morquio syndrome", "Mucopolysaccharidosis IV", "eccentro-osteochondrodysplasia", "eccentrochondrodysplasia", "eccentroosteochondrodysplasia", "mucopolysaccharidosis IV", "mucopolysaccharidosis type 4", "mucopolysaccharidosis type IV"], "xref": ["DOID:12804", "GARD:0012562", "MEDGEN:44513", "MedDRA:10028095", "NANDO:1200105", "NANDO:2200550", "NCIT:C61263", "NORD:1455", "Orphanet:582", "SCTID:378007", "UMLS:C0026707", "icd11.foundation:2078241550"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.", "id": "MONDO:0018939", "name": "Muscle-eye-brain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEB syndrome", "Santavuori congenital muscular dystrophy", "muscle-eye-brain syndrome"], "xref": ["GARD:0000156", "ICD9:742.4", "MEDGEN:105341", "Orphanet:588", "SCTID:277950001", "UMLS:C0457133"]}
{"category": ["biolink:Disease"], "description": "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.", "id": "MONDO:0018940", "name": "Congenital myasthenic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMS", "Congenital Myasthenic Syndromes", "myasthenic syndrome, congenital"], "xref": ["DOID:3635", "GARD:0011902", "ICD9:358.00", "ICD9:V17.89", "MEDGEN:155650", "MESH:D020294", "NANDO:1200021", "NCIT:C84647", "NORD:1893", "OMIMPS:601462", "Orphanet:590", "SCTID:230672006", "UMLS:C0751882", "icd11.foundation:1515367530"]}
{"category": ["biolink:Disease"], "description": "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).", "id": "MONDO:0018941", "name": "Furuncular myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["furunculoid myiasis", "furunculous myiasis"], "xref": ["GARD:0002418", "MEDGEN:419893", "MESH:C538194", "Orphanet:591", "UMLS:C2931766", "icd11.foundation:1861376017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018942", "name": "Macrophagic myofasciitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MMF"], "xref": ["GARD:0000176", "MEDGEN:419858", "MESH:C537829", "Orphanet:592", "SCTID:718175009", "UMLS:C2931639"]}
{"category": ["biolink:Disease"], "description": "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.", "id": "MONDO:0018943", "name": "Myofibrillar myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["myofibrillar myopathy", "myofibrillar myopathy (disease)"], "xref": ["DOID:0080307", "GARD:0010529", "HP:0003715", "ICD9:359.89", "MEDGEN:395532", "MESH:C580316", "NCIT:C83009", "OMIMPS:601419", "Orphanet:593", "SCTID:699269005", "UMLS:C2678065", "icd11.foundation:125656853"]}
{"category": ["biolink:Disease"], "description": "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.", "id": "MONDO:0018944", "name": "Gestational trophoblastic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["GTN", "GTT", "gestational trophoblastic tumor", "gestational trophoblastic tumour"], "xref": ["DOID:3590", "GARD:0006498", "ICD9:630", "MEDGEN:210107", "MedDRA:10061988", "NCIT:C4699", "Orphanet:59305", "SCTID:609519004", "UMLS:C1135868", "icd11.foundation:1972855304"]}
{"category": ["biolink:Disease"], "description": "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.", "id": "MONDO:0018945", "name": "Xk-related neurodegenerative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MLS", "McLeod neuroacanthocytosis syndrome", "McLeod syndrome", "X-linked McLeod syndrome", "XK disease"], "xref": ["DOID:0112107", "GARD:0010731", "ICD9:289.89", "MEDGEN:140765", "MESH:C564038", "NANDO:1200015", "OMIM:300842", "Orphanet:59306", "SCTID:234411007", "UMLS:C0398568", "icd11.foundation:1749275115"]}
{"category": ["biolink:Disease"], "description": "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.", "id": "MONDO:0018946", "name": "Rhombencephalosynapsis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018855", "ICD9:742.4", "MEDGEN:356456", "Orphanet:59315", "SCTID:442300000", "UMLS:C1866130", "icd11.foundation:2112180041"]}
{"category": ["biolink:Disease"], "description": "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.", "id": "MONDO:0018947", "name": "Centronuclear myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CNM", "centronuclear myopathy", "myopathy, centronuclear"], "xref": ["DOID:14717", "GARD:0000101", "ICD10CM:G71.22", "MEDGEN:104495", "NANDO:1200481", "NANDO:1200482", "NANDO:2200867", "NORD:909", "OMIMPS:160150", "Orphanet:595", "SCTID:82077006", "UMLS:C0175709", "icd11.foundation:742097637"]}
{"category": ["biolink:Disease"], "description": "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.", "id": "MONDO:0018948", "name": "Multiminicore myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MmD", "multicore disease", "multicore myopathy", "multiminicore disease"], "xref": ["DOID:0080991", "GARD:0016536", "MEDGEN:75731", "NANDO:1200480", "NANDO:2200871", "Orphanet:598", "SCTID:55133004", "UMLS:C0270962"]}
{"category": ["biolink:Disease"], "description": "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.", "id": "MONDO:0018949", "name": "Distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["distal muscular dystrophy", "distal myopathy"], "xref": ["DOID:11720", "GARD:0018699", "MEDGEN:155541", "NANDO:1200216", "NCIT:C84675", "OMIMPS:160500", "Orphanet:599", "SCTID:58795000", "UMLS:C0751336", "icd11.foundation:596283352"]}
{"category": ["biolink:Disease"], "description": "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.", "id": "MONDO:0018950", "name": "3-methylcrotonyl-coa carboxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-MCC deficiency", "3-methylcrotonyl-CoA carboxylase deficiency", "3-methylcrotonylglycinuria", "MCC deficiency", "MCCD", "Methylcrotonyl-CoA carboxylase deficiency"], "xref": ["DOID:0050710", "GARD:0010954", "MEDGEN:1633312", "NANDO:2200495", "NCIT:C98674", "OMIMPS:210200", "Orphanet:6", "SCTID:13144005", "UMLS:C4551505"]}
{"category": ["biolink:Disease"], "description": "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.", "id": "MONDO:0018951", "name": "Distal myopathy with vocal cord weakness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MATR3-related distal myopathy", "VCPDM"], "xref": ["GARD:0001887", "MEDGEN:342950", "Orphanet:600", "UMLS:C1853723", "icd11.foundation:1133125258"]}
{"category": ["biolink:Disease"], "description": "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).", "id": "MONDO:0018952", "name": "Argyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Silver staining"], "xref": ["GARD:0018856", "MESH:D001129", "MedDRA:10003094", "Orphanet:60014", "icd11.foundation:609692407"]}
{"category": ["biolink:Disease"], "description": "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.", "id": "MONDO:0018953", "name": "Parietal foramina", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["catlin marks", "enlarged parietal foramina", "fenestrae parietales symmetricae", "foramina parietalia permagna", "hereditary cranium bifidum", "parietal foramina", "symmetric parietal foramina"], "xref": ["DOID:0060285", "GARD:0016662", "HP:0002697", "MESH:C566826", "OMIMPS:168500", "Orphanet:60015", "SCTID:718099006", "icd11.foundation:905361904"]}
{"category": ["biolink:Disease"], "description": "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.", "id": "MONDO:0018954", "name": "Loeys-dietz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Loeys-Dietz syndrome", "aortic aneurysm syndrome due to TGF-beta receptors anomalies"], "xref": ["DOID:0050466", "GARD:0010788", "ICD9:759.89", "MEDGEN:395827", "MESH:D055947", "NANDO:2200969", "NCIT:C75006", "NORD:91173", "OMIMPS:609192", "Orphanet:60030", "SCTID:446263001", "UMLS:C2697932"]}
{"category": ["biolink:Disease"], "description": "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.", "id": "MONDO:0018955", "name": "Recurrent respiratory papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RRP", "recurrent respiratory papillomatosis"], "xref": ["GARD:0000111", "ICD9:078.19", "MEDGEN:216998", "MESH:C535297", "MedDRA:10059314", "NCIT:C128637", "NORD:1651", "Orphanet:60032", "SCTID:472827002", "UMLS:C1168198", "icd11.foundation:151039887"]}
{"category": ["biolink:Disease"], "description": "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).", "id": "MONDO:0018956", "name": "Idiopathic bronchiectasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016664", "MEDGEN:573462", "Orphanet:60033", "SCTID:233629001", "UMLS:C0339985"]}
{"category": ["biolink:Disease"], "description": "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.", "id": "MONDO:0018957", "name": "Pudendal neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Alcock syndrome", "Pudendalgia", "neuralgia of pudendal nerve", "pudendal algia", "pudendal nerve entrapment syndrome", "pudendal nerve neuralgia", "pudendal neuralgia by pudendal nerve entrapment"], "xref": ["GARD:0010713", "ICD9:729.2", "MEDGEN:372681", "MESH:D060545", "Orphanet:60039", "SCTID:427972000", "UMLS:C1997249", "icd11.foundation:1492963618"]}
{"category": ["biolink:Disease"], "description": "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.", "id": "MONDO:0018958", "name": "Nemaline myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["NEM", "NM", "nemaline body disease", "nemaline myopathy", "nemaline rod myopathy", "rod myopathy"], "xref": ["DOID:3191", "GARD:0012033", "ICD10CM:G71.21", "MEDGEN:61528", "MESH:D017696", "NANDO:1200478", "NANDO:2200869", "OMIMPS:256030", "Orphanet:607", "SCTID:75072002", "UMLS:C0206157", "icd11.foundation:1996502540"]}
{"category": ["biolink:Disease"], "description": "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.", "id": "MONDO:0018959", "name": "Potassium-aggravated myotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["K+-aggravated myotonia", "K-aggravated myotonia", "PAM", "Potassium aggravated myotonia", "myotonia congenita, atypical, acetazolamide-responsive"], "xref": ["GARD:0004459", "MEDGEN:444151", "MESH:C538353", "NANDO:1200500", "NCIT:C122788", "OMIM:608390", "Orphanet:612", "SCTID:702355008", "UMLS:C2931826", "icd11.foundation:1707250468"]}
{"category": ["biolink:Disease"], "description": "An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.", "id": "MONDO:0018960", "name": "Congenital primary megaureter", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital primary megalo-ureter"], "xref": ["GARD:0018700", "MEDGEN:903364", "NANDO:2200184", "Orphanet:617", "SCTID:717459000", "UMLS:C4273898", "icd11.foundation:566805920"]}
{"category": ["biolink:Disease"], "description": "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.", "id": "MONDO:0018961", "name": "Familial melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary melanoma (disease)"], "xref": ["DOID:6846", "GARD:0003460", "MEDGEN:268851", "NCIT:C8498", "Orphanet:618", "UMLS:C1512419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018962", "name": "Common mesentery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly"], "synonym": ["universal mesentery"], "xref": ["MEDGEN:539782", "Orphanet:620", "SCTID:52159006", "UMLS:C0266235", "icd11.foundation:2101515260"]}
{"category": ["biolink:Disease"], "description": "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.", "id": "MONDO:0018963", "name": "Hereditary methemoglobinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive methemoglobinemia", "congenital methemoglobinemia", "hereditary methemoglobinemia"], "xref": ["GARD:0002659", "ICD10CM:D74.0", "MEDGEN:473013", "MESH:C580280", "NCIT:C98898", "Orphanet:621", "SCTID:267550008", "UMLS:C0272087", "icd11.foundation:586921197"]}
{"category": ["biolink:Disease"], "description": "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).", "id": "MONDO:0018964", "name": "Homocystinuria without methylmalonic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["functional methionine synthase deficiency", "homocystinuria without methylmalonic aciduria", "methylcobalamin deficiency"], "xref": ["GARD:0016537", "MEDGEN:929148", "OMIMPS:236270", "Orphanet:622", "SCTID:721225009", "UMLS:C4303479", "icd11.foundation:726186034"]}
{"category": ["biolink:Disease"], "description": "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.", "id": "MONDO:0018965", "name": "Alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alport deafness-nephropathy", "Alport syndrome", "Alport's syndrome"], "xref": ["DOID:10983", "GARD:0005785", "ICD10CM:Q87.81", "MEDGEN:339209", "MedDRA:10001843", "NANDO:1200712", "NANDO:2200126", "NCIT:C34842", "NORD:756", "OMIMPS:301050", "Orphanet:63", "UMLS:C1567741", "icd11.foundation:1170919425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018967", "name": "Short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016538", "Orphanet:632"]}
{"category": ["biolink:Disease"], "description": "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.", "id": "MONDO:0018968", "name": "Iniencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010506", "ICD10CM:Q00.2", "ICD9:740.2", "MEDGEN:57756", "MedDRA:10022034", "NCIT:C124549", "Orphanet:63259", "SCTID:2438005", "UMLS:C0152234", "icd11.foundation:1558931335"]}
{"category": ["biolink:Disease"], "description": "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.", "id": "MONDO:0018969", "name": "Craniorachischisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["cranial rachischisis", "craniorachischisis", "craniorachischisis (disease)"], "xref": ["GARD:0010504", "HP:0030770", "ICD10CM:Q00.1", "ICD9:740.1", "MEDGEN:56290", "MedDRA:10011321", "NCIT:C98907", "Orphanet:63260", "SCTID:32219008", "UMLS:C0152426", "icd11.foundation:675690362"]}
{"category": ["biolink:Disease"], "description": "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.", "id": "MONDO:0018971", "name": "Isolated oxycephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "synonym": ["acrocephaly", "hypsicephaly", "hypsocephaly", "pyrgocephaly", "turricephaly"], "xref": ["GARD:0025134", "MEDGEN:1726910", "Orphanet:63440", "SCTID:48069004", "UMLS:C5399823"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018973", "name": "Patterned dystrophy of the retinal pigment epithelium", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009821", "MEDGEN:357005", "MESH:C536309", "Orphanet:63454", "UMLS:C1868569"]}
{"category": ["biolink:Disease"], "description": "Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.", "id": "MONDO:0018974", "name": "Paraneoplastic pemphigus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080852", "EFO:0008602", "GARD:0018858", "ICD10CM:L10.81", "MEDGEN:798302", "MedDRA:10057056", "NANDO:1200231", "Orphanet:63455", "UMLS:C1112570", "icd11.foundation:104197957"]}
{"category": ["biolink:Disease"], "description": "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.", "id": "MONDO:0018975", "name": "Neurofibromatosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["NF1", "Neurofibromatosis 1", "Nf1-Microdeletion syndrome", "neurofibromatosis 1", "neurofibromatosis type 1", "neurofibromatosis type i", "neurofibromatosis, type 1", "nonmosaic NF1", "nonmosaic neurofibromatosis type 1", "peripheral neurofibromatosis"], "xref": ["DECIPHER:15", "DOID:0111253", "GARD:0007866", "ICD10CM:Q85.01", "ICD9:237.71", "MEDGEN:18013", "MESH:C538607", "MESH:D009456", "MedDRA:10047712", "NANDO:1200225", "NANDO:1200226", "NANDO:2100287", "NANDO:2201003", "NCIT:C3273", "NORD:1502", "OMIM:162200", "Orphanet:636", "SCTID:92824003", "UMLS:C0027831", "icd11.foundation:337970533"]}
{"category": ["biolink:Disease"], "description": "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.", "id": "MONDO:0018976", "name": "Schisis association", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000246", "MEDGEN:444017", "MESH:C536633", "Orphanet:63862", "SCTID:718095000", "UMLS:C2931271"]}
{"category": ["biolink:Disease"], "description": "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.", "id": "MONDO:0018977", "name": "Polyneuropathy associated with igm monoclonal gammapathy with anti-mag", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anti-MAG neuropathy", "neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein"], "xref": ["GARD:0013173", "MEDGEN:1434346", "Orphanet:639", "UMLS:C1736154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0018978", "name": "Igg4-related mediastinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Fibrosing Mediastinitis", "fibrosing mediastinitis", "mediastinal fibrosis", "sclerosing mediastinitis"], "xref": ["GARD:0008337", "MEDGEN:82683", "MESH:C536136", "MedDRA:10027074", "NORD:1146", "Orphanet:63999", "UMLS:C0264573", "icd11.foundation:123840075", "icd11.foundation:791747341"]}
{"category": ["biolink:Disease"], "description": "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.", "id": "MONDO:0018979", "name": "Multifocal motor neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MMN", "MMNCB", "multifocal motor neuropathy with conduction block"], "xref": ["GARD:0011011", "ICD10CM:G61.82", "ICD9:357.89", "MEDGEN:581615", "NANDO:1200031", "NORD:1952", "Orphanet:641", "SCTID:230591002", "UMLS:C0393847"]}
{"category": ["biolink:Disease"], "description": "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.", "id": "MONDO:0018980", "name": "Acrofacial dysostosis, kennedy-teebi type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kennedy-Teebi syndrome"], "xref": ["GARD:0018859", "MEDGEN:929763", "Orphanet:64542", "SCTID:720427009", "UMLS:C4304094"]}
{"category": ["biolink:Disease"], "description": "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.", "id": "MONDO:0018981", "name": "Benign idiopathic neonatal seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BINS", "benign nonfamilial neonatal seizures"], "xref": ["GARD:0018860", "MEDGEN:140738", "Orphanet:64545", "UMLS:C0393693", "icd11.foundation:1131336245"]}
{"category": ["biolink:Disease"], "description": "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.", "id": "MONDO:0018982", "name": "Niemann-pick disease type c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Niemann Pick Disease Type C"], "xref": ["GARD:0007207", "ICD10CM:E75.242", "MEDGEN:67399", "MESH:D052556", "NANDO:1200063", "NORD:1509", "Orphanet:646", "SCTID:66751000", "UMLS:C0220756", "icd11.foundation:812702125"]}
{"category": ["biolink:Disease"], "description": "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.", "id": "MONDO:0018983", "name": "Tolosa-hunt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tolosa Hunt Syndrome", "Tolosa Hunt syndrome", "Tolosa-Hunt syndrome", "painful ophthalmoplegia"], "xref": ["DOID:1278", "GARD:0007777", "MEDGEN:21197", "MESH:D020333", "MedDRA:10051526", "NCIT:C85193", "NORD:1774", "Orphanet:64686", "SCTID:95794005", "UMLS:C0040381", "icd11.foundation:969826782"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.", "id": "MONDO:0018984", "name": "Oroya fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Bartonella bacilliformis caused disease or disorder", "Bartonella bacilliformis disease or disorder", "Bartonella bacilliformis infectious disease", "Carrion disease", "Carrion's disease", "Carrión disease", "Oroya fever", "bartonellosis due to Bartonella bacilliformis infection"], "xref": ["DOID:0050398", "GARD:0018861", "MEDGEN:45234", "NCIT:C128441", "Orphanet:64692", "Orphanet:659756", "SCTID:240453002", "SCTID:262461007", "UMLS:C0029307", "icd11.foundation:1031219789"]}
{"category": ["biolink:Disease"], "description": "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.", "id": "MONDO:0018987", "name": "Granulomatous mastitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic granulomatous mastitis"], "xref": ["GARD:0018863", "ICD10CM:N61.2", "MEDGEN:98343", "MESH:D058890", "Orphanet:64722", "SCTID:237444008", "UMLS:C0405469"]}
{"category": ["biolink:Disease"], "description": "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications", "id": "MONDO:0018988", "name": "Iridocorneal endothelial syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ICE syndrome"], "xref": ["GARD:0000060", "MEDGEN:242751", "MESH:D057129", "MedDRA:10053678", "NCIT:C84792", "Orphanet:64734", "SCTID:129623003", "UMLS:C1096100", "icd11.foundation:265074385"]}
{"category": ["biolink:Disease"], "description": "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.", "id": "MONDO:0018989", "name": "Recurrent acute pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:489943", "MedDRA:10033657", "NCIT:C184324", "Orphanet:64740", "SCTID:197458008", "UMLS:C0267937", "icd11.foundation:300900170"]}
{"category": ["biolink:Disease"], "description": "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.", "id": "MONDO:0018991", "name": "Hepatoportal sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["obliterative portal venopathy"], "xref": ["GARD:0018865", "MEDGEN:1391122", "Orphanet:64743", "SCTID:718096004", "UMLS:C4476911"]}
{"category": ["biolink:Disease"], "description": "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occurring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.", "id": "MONDO:0018992", "name": "Igg4-related thyroid disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Riedel disease", "Riedel fibrosing thyroiditis", "Riedel thyroiditis", "Riedel's fibrosing thyroiditis"], "xref": ["DOID:14351", "GARD:0018866", "MEDGEN:509536", "MedDRA:10039142", "NCIT:C35827", "Orphanet:64744", "SCTID:89024000", "UMLS:C0154162", "icd11.foundation:1357889668"]}
{"category": ["biolink:Disease"], "description": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.", "id": "MONDO:0018993", "name": "Charcot-marie-tooth disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMT2", "autosomal dominant axonal Charcot-Marie-Tooth disease", "hereditary motor and sensory neuropathy type 2"], "xref": ["DOID:0050539", "GARD:0012431", "ICD9:356.0", "MEDGEN:124378", "NANDO:1200018", "Orphanet:64746", "SCTID:715665006", "UMLS:C0270914", "icd11.foundation:403896648"]}
{"category": ["biolink:Disease"], "description": "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.", "id": "MONDO:0018994", "name": "Charcot-marie-tooth disease type x", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMTX", "COWCK", "X-linked hereditary motor and sensory neuropathy"], "xref": ["DOID:0050542", "GARD:0012444", "ICD9:356.9", "MEDGEN:1637021", "Orphanet:64747", "SCTID:230552007", "UMLS:C4551551"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.", "id": "MONDO:0018995", "name": "Charcot-marie-tooth disease type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT1", "CMT4", "autosomal recessive demyelinating Charcot-Marie-Tooth"], "xref": ["DOID:0050541", "GARD:0012440", "MEDGEN:905419", "Orphanet:64749", "SCTID:715795005", "UMLS:C4082197"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.", "id": "MONDO:0018996", "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AOA2", "SCAN 2", "SCAN2", "ataxia with oculomotor apraxia type 2", "ataxia-ocular apraxia 2", "ataxia-oculomotor apraxia 2", "ataxia-oculomotor apraxia type 2", "spinocerebellar ataxia with axonal neuropathy type 2", "spinocerebellar ataxia, autosomal recessive 1", "spinocerebellar ataxia, autosomal recessive type 1"], "xref": ["DOID:0050755", "GARD:0012860", "MEDGEN:340052", "MESH:C537308", "NCIT:C165500", "OMIM:606002", "Orphanet:64753", "SCTID:725408001", "UMLS:C1853761"]}
{"category": ["biolink:Disease"], "description": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.", "id": "MONDO:0018997", "name": "Noonan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Noonan syndrome", "Noonan's syndrome"], "xref": ["DOID:3490", "GARD:0010955", "ICD9:759.89", "MEDGEN:18073", "MESH:D009634", "MedDRA:10029748", "NANDO:1200680", "NANDO:2200413", "NCIT:C34854", "NORD:1513", "OMIMPS:163950", "Orphanet:648", "SCTID:205824006", "UMLS:C0028326", "icd11.foundation:1044395354"]}
{"category": ["biolink:Disease"], "description": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.", "id": "MONDO:0018998", "name": "Leber congenital amaurosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leber congenital amaurosis", "amaurosis congenita of Leber"], "xref": ["DOID:14791", "GARD:0000634", "MEDGEN:137922", "MESH:D057130", "MedDRA:10070667", "NCIT:C129075", "NORD:1351", "OMIMPS:204000", "Orphanet:65", "SCTID:193413001", "UMLS:C0339527", "icd11.foundation:650490256"]}
{"category": ["biolink:Disease"], "description": "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.", "id": "MONDO:0018999", "name": "Lcat deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lecithin-cholesterol acyltransferase deficiency"], "xref": ["GARD:0016539", "MEDGEN:1830326", "NANDO:1200852", "Orphanet:650", "SCTID:49227001", "UMLS:C5779633"]}
{"category": ["biolink:Disease"], "description": "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.", "id": "MONDO:0019000", "name": "Perineural cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Tarlov cyst"], "xref": ["GARD:0027868", "ICD10CM:G96.191", "MEDGEN:105457", "MESH:D052958", "Orphanet:65250", "SCTID:81634008", "UMLS:C0520720", "icd11.foundation:881909739"]}
{"category": ["biolink:Disease"], "description": "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.", "id": "MONDO:0019002", "name": "Lhermitte-duclos disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["LDD", "dysplastic cerebellar gangliocytoma", "dysplastic gangliocytoma of cerebellum", "dysplastic gangliocytoma of the cerebellum"], "xref": ["GARD:0006901", "ICDO:9493/0", "MEDGEN:140251", "NCIT:C8419", "Orphanet:65285", "UMLS:C0391826"]}
{"category": ["biolink:Disease"], "description": "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).", "id": "MONDO:0019003", "name": "Multiple endocrine neoplasia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MEN2", "multiple endocrine neoplasia type 2"], "xref": ["GARD:0003830", "ICD9:194.8", "ICD9:258.02", "MEDGEN:887211", "MedDRA:10028191", "NANDO:2200406", "NCIT:C123329", "NORD:1467", "Orphanet:653", "SCTID:61808009", "UMLS:C4048306", "icd11.foundation:1837913809"]}
{"category": ["biolink:Disease"], "description": "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.", "id": "MONDO:0019004", "name": "Kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Wilms tumor of the kidney", "Wilms tumour of the kidney", "Wilms' Tumor", "Wilms' tumor of the kidney", "Wilms' tumour of the kidney", "kidney Wilms tumor", "nephroblastoma", "nephroblastoma, malignant", "renal Wilms tumor", "renal Wilms tumour", "renal Wilms' tumor", "renal embryonic tumor", "renal embryonic tumour"], "xref": ["DOID:2154", "DOID:5176", "GARD:0007892", "ICDO:8960/3", "MedDRA:10029145", "NANDO:2200043", "NCIT:C40407", "NORD:1855", "ONCOTREE:WT", "Orphanet:654", "SCTID:302849000"]}
{"category": ["biolink:Disease"], "description": "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.", "id": "MONDO:0019005", "name": "Nephronophthisis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["medullary cystic kidney", "nephronophthisis", "nephronophthisis (disease)"], "xref": ["DOID:12712", "GARD:0000206", "HP:0000090", "MEDGEN:146912", "NANDO:1201036", "NANDO:2100015", "NANDO:2200140", "NANDO:2200170", "NCIT:C123200", "OMIMPS:256100", "Orphanet:655", "UMLS:C0687120", "icd11.foundation:158151813"]}
{"category": ["biolink:Disease"], "description": "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.", "id": "MONDO:0019006", "name": "Familial idiopathic steroid-resistant nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial idiopathic nephrotic syndrome"], "xref": ["GARD:0003946", "MEDGEN:902527", "Orphanet:656", "SCTID:718141008", "UMLS:C4273714", "icd11.foundation:1385860879"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019007", "name": "Vaginal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018867", "HP:0000148", "MEDGEN:232948", "MedDRA:10046879", "Orphanet:65681", "UMLS:C1321884", "icd11.foundation:1126562070"]}
{"category": ["biolink:Disease"], "description": "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).", "id": "MONDO:0019008", "name": "Benign recurrent intrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BRIC", "Bric", "Summerskill-Walshe-Tygstrup syndrome", "cholestasis, benign recurrent intrahepatic"], "xref": ["DOID:0070230", "GARD:0012185", "MEDGEN:57703", "OMIMPS:243300", "Orphanet:65682", "SCTID:31155007", "UMLS:C0149841", "icd11.foundation:288945286"]}
{"category": ["biolink:Disease"], "description": "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.", "id": "MONDO:0019009", "name": "Isolated focal cortical dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epilepsy due to FCD"], "xref": ["GARD:0016671", "MEDGEN:1645432", "NANDO:1200564", "Orphanet:65683", "SCTID:766710005", "UMLS:C4707795"]}
{"category": ["biolink:Disease"], "description": "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.", "id": "MONDO:0019010", "name": "Congenital isolated hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Congenital Hyperinsulinism", "PHHI", "chi", "persistent hyperinsulinemic hypoglycemia of infancy"], "xref": ["GARD:0003947", "NCIT:C122923", "NORD:999", "Orphanet:657"]}
{"category": ["biolink:Disease"], "description": "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.", "id": "MONDO:0019011", "name": "Charcot-marie-tooth disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMT1", "Charcot-Marie-Tooth neuropathy type 1", "autosomal dominant demyelinating Charcot-Marie-Tooth disease", "hereditary motor and sensory neuropathy type 1"], "xref": ["DOID:0050538", "GARD:0012433", "MEDGEN:155486", "NANDO:1200017", "Orphanet:65753", "SCTID:398040009", "UMLS:C0751036"]}
{"category": ["biolink:Disease"], "description": "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.", "id": "MONDO:0019012", "name": "Carpenter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACPS2", "Carpenter 's syndrome", "Carpenter syndrome", "acrocephalopolysyndactyly type 2", "acrocephalopolysyndactyly type II", "type II Acrocephalopolysyndactyly"], "xref": ["DOID:0060234", "GARD:0006003", "MEDGEN:226897", "NANDO:2200847", "NCIT:C98873", "NORD:897", "OMIMPS:201000", "Orphanet:65759", "SCTID:403767009", "UMLS:C1275078", "icd11.foundation:2132713612"]}
{"category": ["biolink:Disease"], "description": "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.", "id": "MONDO:0019013", "name": "Non-histaminic angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["angioneurotic edema", "angioneurotic oedema", "bradykinine-induced angioedema", "non histamine-induced angioedema"], "xref": ["GARD:0018701", "ICD9:995.1", "Orphanet:658", "SCTID:41291007"]}
{"category": ["biolink:Disease"], "description": "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.", "id": "MONDO:0019015", "name": "Omphalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital omphalocele", "exomphalos", "omphalocele", "omphalocele (disease)"], "xref": ["DOID:0060327", "GARD:0016540", "HP:0001539", "ICD9:756.72", "MEDGEN:162756", "MedDRA:10030308", "NCIT:C98997", "Orphanet:660", "SCTID:18735004", "UMLS:C0795690", "icd11.foundation:1168696429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019016", "name": "Maternally-inherited progressive external ophthalmoplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["maternally-inherited CPEO", "maternally-inherited chronic progressive external ophthalmoplegia"], "xref": ["GARD:0016479", "Orphanet:663"]}
{"category": ["biolink:Disease"], "description": "A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.", "id": "MONDO:0019017", "name": "Short fifth metacarpals-insulin resistance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018868", "MEDGEN:929290", "Orphanet:66518", "UMLS:C4303621"]}
{"category": ["biolink:Disease"], "description": "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.", "id": "MONDO:0019018", "name": "Tako-tsubo cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tako-Tsubo syndrome", "Takotsubo Cardiomyopathy", "Takotsubo cardiomyopathy", "Takotsubo syndrome", "ampulla cardiomyopathy", "apical ballooning syndrome", "ballooning cardiomyopathy", "broken heart syndrome", "stress cardiomyopathy", "transient left ventricular apical ballooning syndrome"], "xref": ["EFO:1002000", "GARD:0009400", "ICD10CM:I51.81", "ICD9:429.83", "MEDGEN:366029", "MESH:D054549", "NCIT:C85181", "NORD:2006", "Orphanet:66529", "SCTID:441541008", "UMLS:C1739395", "icd11.foundation:478139552"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.", "id": "MONDO:0019019", "name": "Osteogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lobstein disease", "OI", "Osteopsathyrosis", "Porak and Durante disease", "brittle bone disease", "glass bone disease"], "xref": ["DOID:12347", "GARD:0001017", "ICD10CM:Q78.0", "ICD9:756.51", "MEDGEN:45246", "MESH:D010013", "MedDRA:10031243", "NANDO:1200873", "NANDO:2201011", "NCIT:C26837", "NORD:1535", "OMIMPS:166200", "Orphanet:666", "SCTID:78314001", "UMLS:C0029434", "icd11.foundation:1219932551"]}
{"category": ["biolink:Disease"], "description": "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.", "id": "MONDO:0019020", "name": "Pandas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["paediatric autoimmune disorders associated with Streptococcus infections", "paediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections", "pediatric autoimmune disorders associated with Streptococcus infections", "pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections"], "xref": ["GARD:0007312", "MEDGEN:419798", "MESH:C537163", "Orphanet:66624", "UMLS:C2931429"]}
{"category": ["biolink:Disease"], "description": "Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.", "id": "MONDO:0019022", "name": "Sensorineural hearing loss-early graying-essential tremor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018869", "MEDGEN:1389497", "Orphanet:66633", "UMLS:C4510044"]}
{"category": ["biolink:Disease"], "description": "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.", "id": "MONDO:0019023", "name": "Cutaneous mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CM", "cutaneous (skin) mastocytosis", "cutaneous mastocytosis", "cutaneous mastocytosis (disease)", "mastocytosis, cutaneous", "mastocytosis, systemic, somatic"], "xref": ["DOID:3663", "EFO:1000886", "GARD:0007842", "HP:0200151", "ICD10CM:D47.01", "ICDO:9740/1", "MEDGEN:210143", "MESH:D034701", "NCIT:C7137", "OMIM:154800", "ONCOTREE:CMCD", "Orphanet:66646", "SCTID:397012002", "UMLS:C1136033", "icd11.foundation:1300710062"]}
{"category": ["biolink:Disease"], "description": "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)", "id": "MONDO:0019024", "name": "Mast cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCS", "mast cell sarcoma", "mast-cell sarcoma", "sarcoma of mast cell"], "xref": ["DOID:355", "EFO:1000364", "GARD:0018870", "ICD10CM:C96.22", "ICD9:202.6", "ICDO:9740/3", "MEDGEN:11322", "MESH:D012515", "NCIT:C9348", "ONCOTREE:MCSL", "Orphanet:66661", "SCTID:118615008", "UMLS:C0036221", "icd11.foundation:1993363632", "icd11.foundation:233404891"]}
{"category": ["biolink:Disease"], "description": "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003", "id": "MONDO:0019025", "name": "Extracutaneous mastocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["extracutaneous mastocytoma"], "xref": ["DOID:4659", "GARD:0018871", "ICDO:9740/1", "MEDGEN:75774", "NCIT:C7136", "Orphanet:66662", "SCTID:63175003", "UMLS:C0272202", "icd11.foundation:29932455"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.", "id": "MONDO:0019026", "name": "Autosomal recessive osteopetrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPTB", "autosomal recessive malignant osteopetrosis", "autosomal recessive osteopetrosis", "autosomal recessive osteopetrosis (disease)", "infantile malignant osteopetrosis", "osteopetrosis (disease), autosomal recessive"], "xref": ["GARD:0015012", "MEDGEN:1385510", "NCIT:C129733", "OMIMPS:259700", "Orphanet:667", "SCTID:367489004", "UMLS:C4272578"]}
{"category": ["biolink:Disease"], "description": "A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.", "id": "MONDO:0019027", "name": "Otopalatodigital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["oto-palatal-digital syndrome", "oto-palato-digital syndrome"], "xref": ["GARD:0007293", "MEDGEN:1843451", "Orphanet:669", "SCTID:767130007", "UMLS:C5779873", "icd11.foundation:1506946342"]}
{"category": ["biolink:Disease"], "description": "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.", "id": "MONDO:0019028", "name": "Amoebiasis due to entamoeba histolytica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018675", "MEDGEN:443898", "MESH:C531613", "Orphanet:67", "UMLS:C2930799"]}
{"category": ["biolink:Disease"], "description": "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.", "id": "MONDO:0019029", "name": "Segmental odontomaxillary dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SOD"], "xref": ["GARD:0018872", "ICD9:524.89", "MEDGEN:785795", "NANDO:1200561", "Orphanet:67039", "SCTID:699756005", "UMLS:C3698531", "icd11.foundation:1309035766"]}
{"category": ["biolink:Disease"], "description": "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.", "id": "MONDO:0019031", "name": "Thrombocytopenia with congenital dyserythropoietic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked congenital dyserythropoietic anaemia with thrombocytopenia", "X-linked congenital dyserythropoietic anemia with thrombocytopenia", "XDAT", "congenital dyserythropoietic anaemia with thombocytopenia", "congenital dyserythropoietic anemia with thombocytopenia"], "xref": ["GARD:0016676", "MEDGEN:928177", "Orphanet:67044", "SCTID:722475006", "UMLS:C4302508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019032", "name": "X-linked intellectual disability with isolated growth hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MRGH"], "xref": ["GARD:0016677", "MEDGEN:341145", "Orphanet:67045", "UMLS:C1848068"]}
{"category": ["biolink:Disease"], "description": "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).", "id": "MONDO:0019033", "name": "Primary cutis verticis gyrata", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cutis verticis gyrata"], "xref": ["GARD:0001643", "ICD9:757.39", "MEDGEN:78095", "Orphanet:671", "SCTID:51603000", "UMLS:C0263417", "icd11.foundation:71926572"]}
{"category": ["biolink:Disease"], "description": "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.", "id": "MONDO:0019034", "name": "Accessory pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000454", "MEDGEN:82737", "MESH:C536003", "Orphanet:674", "SCTID:79037006", "UMLS:C0266268", "icd11.foundation:240534435"]}
{"category": ["biolink:Disease"], "description": "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.", "id": "MONDO:0019035", "name": "Pancreatoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreatoblastoma (morphologic abnormality)"], "xref": ["DOID:6823", "GARD:0004210", "MEDGEN:87250", "MESH:C537162", "NANDO:2200082", "NCIT:C4265", "ONCOTREE:PB", "Orphanet:677", "UMLS:C0334489", "icd11.foundation:1310236105", "icd11.foundation:733863058"]}
{"category": ["biolink:Disease"], "description": "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.", "id": "MONDO:0019036", "name": "Amoebiasis due to free-living amoebae", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012650", "MEDGEN:509253", "Orphanet:68", "UMLS:C0153326"]}
{"category": ["biolink:Disease"], "description": "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.", "id": "MONDO:0019037", "name": "Progressive supranuclear palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PSP syndrome", "Steele-Richardson-Olszewski disease", "Steele-Richardson-Olszewski syndrome", "progressive supranuclear ophthalmoplegia"], "xref": ["DOID:678", "GARD:0007471", "ICD10CM:G23.1", "ICD9:333.0", "MEDGEN:21026", "MESH:D013494", "MedDRA:10036813", "NANDO:1200009", "NCIT:C85028", "NORD:1619", "OMIMPS:601104", "Orphanet:683", "SCTID:192976002", "SCTID:28978003", "UMLS:C0038868", "icd11.foundation:1493396558"]}
{"category": ["biolink:Disease"], "description": "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)", "id": "MONDO:0019040", "name": "Chromosomal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare_grouping"], "synonym": ["chromosomal disease", "chromosomal disorder", "chromosomal disorders", "chromosome disorder", "disorder, chromosomal", "disorder, chromosome", "disorders, chromosomal", "disorders, chromosome"], "xref": ["DOID:0080014", "ICD10CM:Q90-Q99", "ICD9:758.89", "MEDGEN:3441", "MESH:D025063", "NANDO:1100014", "NANDO:2100279", "NANDO:2100280", "NCIT:C34470", "Orphanet:68335", "SCTID:409709004", "UMLS:C0008626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019042", "name": "Multiple congenital anomalies/dysmorphic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018876", "MEDGEN:1843247", "Orphanet:68341", "UMLS:C5681310"]}
{"category": ["biolink:Disease"], "description": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.", "id": "MONDO:0019046", "name": "Leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:merged_class", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hypomyelinating leukodystrophy"], "xref": ["DOID:0050987", "DOID:0060786", "DOID:10579", "GARD:0006895", "ICD9:330.0", "MEDGEN:6070", "MedDRA:10024381", "NANDO:1200575", "NANDO:2200836", "NCIT:C61253", "NORD:1367", "OMIMPS:312080", "Orphanet:68356", "SCTID:192781003", "UMLS:C0023520", "icd11.foundation:468040251"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.", "id": "MONDO:0019050", "name": "Inherited hemoglobinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Hemoglobinopathies / iron metabolism", "hereditary hemoglobinopathy"], "xref": ["DOID:2860", "GARD:0018883", "ICD9:282.7", "MESH:D006453", "MedDRA:10060892", "NCIT:C3092", "Orphanet:68364", "SCTID:427306008"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.", "id": "MONDO:0019052", "name": "Inborn errors of metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital metabolic disorder", "congenital metabolism disorder", "hereditary metabolic disease", "inborn disorders of metabolism", "inborn error of metabolism", "inborn errors of metabolism", "inborn metabolic disorder", "inherited disorder of metabolism", "inherited disorders of metabolism", "inherited metabolic disorder"], "xref": ["DOID:655", "GARD:0022508", "MEDGEN:6323", "MESH:D008661", "MedDRA:10058097", "MedDRA:10062018", "NANDO:2100159", "NCIT:C34816", "Orphanet:68367", "SCTID:86095007", "UMLS:C0025521", "icd11.foundation:733825440"]}
{"category": ["biolink:Disease"], "description": "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.", "id": "MONDO:0019053", "name": "Peroxisomal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["disorder of peroxisomal function", "peroxisomal disease", "peroxisomal disorder", "peroxisomal function disorder"], "xref": ["DOID:906", "GARD:0018885", "ICD9:277.86", "ICD9:277.89", "MEDGEN:129185", "NANDO:1200758", "NANDO:2100166", "NCIT:C85005", "Orphanet:68373", "SCTID:238059005", "UMLS:C0282528", "icd11.foundation:782299726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019054", "name": "Congenital limb malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["congenital limb malformation"], "xref": ["Orphanet:68378"]}
{"category": ["biolink:Disease"], "description": "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions", "id": "MONDO:0019056", "name": "Neuromuscular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["nerve and muscle disorder", "neuromuscular disease"], "xref": ["DOID:440", "EFO:1001902", "ICD9:358", "ICD9:358.9", "MEDGEN:10323", "MESH:D009468", "MedDRA:10029323", "NANDO:1100001", "NANDO:2100214", "Orphanet:68381", "UMLS:C0027868"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.", "id": "MONDO:0019060", "name": "Bone neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["bone neoplasm", "bone neoplasms", "bone tissue neoplasm", "bone tissue tumor", "bone tissue tumour", "bone tumor", "bone tumors", "bone tumour", "bone tumours", "neoplasm of bone", "neoplasm of bone tissue", "neoplasm of the bone", "osseous neoplasm", "osseous tumor", "osseous tumour", "tumor of bone", "tumor of bone tissue", "tumor of the bone", "tumour of bone", "tumour of bone tissue", "tumour of the bone"], "xref": ["EFO:0003820", "GARD:0018892", "ICD10CM:C40-C41", "MEDGEN:488993", "NCIT:C9343", "ONCOTREE:BONE", "Orphanet:68411", "UMLS:C2732838"]}
{"category": ["biolink:Disease"], "description": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.", "id": "MONDO:0019064", "name": "Hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HSP", "SPG", "Strümpell-Lorrain disease", "familial spastic paraplegia", "hereditary spastic paraparesis"], "xref": ["DOID:2476", "GARD:0006637", "ICD10CM:G11.4", "ICD9:334.1", "MEDGEN:20844", "MESH:D015419", "MedDRA:10019903", "NANDO:1200052", "NCIT:C140267", "NORD:1238", "OMIMPS:303350", "Orphanet:685", "SCTID:39912006", "UMLS:C0037773", "icd11.foundation:810807375"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.", "id": "MONDO:0019065", "name": "Amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["amyloid", "amyloid disease", "amyloidoses", "amyloidosis", "amyloidosis (disease)"], "xref": ["DOID:9120", "EFO:1001875", "GARD:0018676", "HP:0011034", "ICD10CM:E85", "ICD10WHO:E85", "ICD9:277.3", "ICD9:277.30", "MEDGEN:272", "MESH:D000686", "MedDRA:10002022", "NANDO:2200138", "NCIT:C2868", "ONCOTREE:MIDDA", "Orphanet:69", "SCTID:17602002", "UMLS:C0002726", "icd11.foundation:2078467774"]}
{"category": ["biolink:Disease"], "description": "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.", "id": "MONDO:0019067", "name": "Idiopathic steroid-sensitive nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016678", "Orphanet:69061"]}
{"category": ["biolink:Disease"], "description": "A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.", "id": "MONDO:0019068", "name": "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FMAIG", "alloimmune neonatal renal disease", "fetomaternal alloimmunization with antenatal glomerulopathies", "neonatal glomerulopathy due to Neprilysin alloimmunization", "neonatal glomerulopathy due to neprilysin alloimmunization", "neonatal membranous glomerulopathy with maternal NEP deficiency", "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency"], "xref": ["GARD:0018896", "MEDGEN:1384031", "Orphanet:69063", "SCTID:725592009", "UMLS:C4511239"]}
{"category": ["biolink:Disease"], "description": "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.", "id": "MONDO:0019071", "name": "Pure hair and nail ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HNED", "PHNED", "hair-nail ectodermal dysplasia"], "xref": ["DOID:0111655", "GARD:0016680", "MEDGEN:1875649", "Orphanet:69084", "UMLS:C5979821"]}
{"category": ["biolink:Disease"], "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.", "id": "MONDO:0019072", "name": "Intrahepatic cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:1852", "MEDGEN:3042", "MESH:D002780", "SCTID:235888006", "UMLS:C0008372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019073", "name": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"], "xref": ["DOID:0111360", "GARD:0002492", "MEDGEN:1373459", "MESH:C536825", "OMIM:137940", "UMLS:C4317151"]}
{"category": ["biolink:Disease"], "description": "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.", "id": "MONDO:0019074", "name": "Bilateral acute depigmentation of the iris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BADI"], "xref": ["GARD:0018897", "MEDGEN:929727", "Orphanet:69736", "SCTID:720460007", "UMLS:C4304058"]}
{"category": ["biolink:Disease"], "description": "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.", "id": "MONDO:0019075", "name": "Bosley-salih-alorainy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BSAS"], "xref": ["GARD:0016684", "MEDGEN:321908", "Orphanet:69737", "UMLS:C1832216", "icd11.foundation:1771217937"]}
{"category": ["biolink:Disease"], "description": "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.", "id": "MONDO:0019076", "name": "Circumscribed palmoplantar hypokeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018898", "MEDGEN:590662", "Orphanet:69744", "UMLS:C0406762"]}
{"category": ["biolink:Disease"], "description": "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.", "id": "MONDO:0019077", "name": "Warty dyskeratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["follicular dyskeratoma", "isolated follicular keratosis"], "xref": ["GARD:0018899", "MEDGEN:137717", "MedDRA:10068856", "NCIT:C4087", "Orphanet:69745", "SCTID:254676008", "UMLS:C0334063", "icd11.foundation:1427186445"]}
{"category": ["biolink:Disease"], "description": "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.", "id": "MONDO:0019078", "name": "Ritscher-schinzel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3C syndrome", "CCC dysplasia", "Craniocerebellocardiac dysplasia", "Ritscher-Schinzel syndrome", "craniocerebellocardiac dysplasia"], "xref": ["DOID:0060565", "GARD:0005666", "MEDGEN:163220", "MESH:C535313", "OMIMPS:220210", "Orphanet:7", "SCTID:718556007", "UMLS:C0796137"]}
{"category": ["biolink:Disease"], "description": "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.", "id": "MONDO:0019079", "name": "Proximal spinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMA"], "xref": ["GARD:0004531", "MEDGEN:870510", "NANDO:2100231", "NORD:1729", "Orphanet:70", "UMLS:C4024957"]}
{"category": ["biolink:Disease"], "description": "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.", "id": "MONDO:0019080", "name": "Alopecia totalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["alopecia totalis"], "xref": ["GARD:0000613", "ICD9:704.09", "MEDGEN:75525", "MedDRA:10001766", "Orphanet:700", "SCTID:19754005", "UMLS:C0263504", "icd11.foundation:1633035058"]}
{"category": ["biolink:Disease"], "description": "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.", "id": "MONDO:0019082", "name": "Bullous pemphigoid", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["bullous pemphigoid"], "xref": ["DOID:8506", "EFO:0007187", "GARD:0005972", "ICD10CM:L12.0", "ICD9:694.5", "MEDGEN:10620", "MESH:D010391", "NANDO:1200632", "NANDO:1200633", "NCIT:C84389", "Orphanet:703", "SCTID:77090002", "UMLS:C0030805", "icd11.foundation:233308710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019083", "name": "Leigh syndrome with cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leigh disease with myopathy", "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency", "cardiomyopathy with myopathy due to COX deficiency"], "xref": ["GARD:0016685", "Orphanet:70474", "icd11.foundation:583594497"]}
{"category": ["biolink:Disease"], "description": "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.", "id": "MONDO:0019084", "name": "Radiation proctitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018900", "ICD10CM:K62.7", "ICD9:569.49", "MEDGEN:586421", "MedDRA:10037766", "NORD:1615", "Orphanet:70475", "SCTID:235760009", "UMLS:C0400827", "icd11.foundation:177305885"]}
{"category": ["biolink:Disease"], "description": "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.", "id": "MONDO:0019085", "name": "Vernal keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Spring catarrh", "Vernal Keratonconjunctivitis"], "xref": ["GARD:0007854", "MEDGEN:9622", "NORD:1826", "Orphanet:70476", "SCTID:317349009", "UMLS:C0022577", "icd11.foundation:670300288"]}
{"category": ["biolink:Disease"], "description": "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).", "id": "MONDO:0019086", "name": "Carcinoma of esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of esophagus", "carcinoma of the esophagus", "carcinoma of the oesophagus", "esophageal carcinoma", "esophagus carcinoma", "oesophagus carcinoma"], "xref": ["DOID:1107", "EFO:0002916", "GARD:0006383", "MEDGEN:56256", "MedDRA:10030155", "NCIT:C3513", "Orphanet:70482", "SCTID:372138000", "UMLS:C0152018"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.", "id": "MONDO:0019087", "name": "Cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CC", "CCA", "Cholangiocar.- intra/extrahepatic", "Cholangiocellular carcinoma", "cholangiocarcinoma", "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)", "cholangiocarcinoma, malignant"], "xref": ["DOID:4947", "EFO:0005221", "GARD:0009304", "ICDO:8160/3", "MEDGEN:60210", "MESH:D018281", "MedDRA:10004593", "MedDRA:10008593", "NCIT:C4436", "NORD:926", "ONCOTREE:CHOL", "Orphanet:70567", "SCTID:312104005", "UMLS:C0206698", "icd11.foundation:2110597275"]}
{"category": ["biolink:Disease"], "description": "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)", "id": "MONDO:0019088", "name": "Post-transplant lymphoproliferative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PTLD", "post-transplant lymphoproliferative disorder"], "xref": ["GARD:0009553", "ICD10CM:D47.Z1", "ICDO:9971/1", "MEDGEN:98160", "MedDRA:10051358", "NCIT:C4727", "NORD:1950", "Orphanet:70568", "SCTID:254290004", "UMLS:C0432487"]}
{"category": ["biolink:Disease"], "description": "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.", "id": "MONDO:0019091", "name": "Bronchopulmonary dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BPD"], "xref": ["DOID:11650", "GARD:0005962", "MEDGEN:1864458", "MESH:D001997", "MedDRA:10006475", "NCIT:C90599", "NORD:874", "Orphanet:70589", "SCTID:67569000", "UMLS:C0495402", "icd11.foundation:1462855296"]}
{"category": ["biolink:Disease"], "description": "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.", "id": "MONDO:0019092", "name": "Infantile apnea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["apnea of infancy"], "xref": ["GARD:0006779", "MEDGEN:1378556", "Orphanet:70590", "SCTID:724229002", "UMLS:C0745261"]}
{"category": ["biolink:Disease"], "description": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).", "id": "MONDO:0019093", "name": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0011903", "MEDGEN:1747183", "Orphanet:70593", "SCTID:234556002", "UMLS:C5399780", "icd11.foundation:849949348"]}
{"category": ["biolink:Disease"], "description": "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.", "id": "MONDO:0019094", "name": "Congenital epstein-barr virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["antenatal EBV infection", "antenatal Epstein-Barr virus infection", "congenital EBV infection", "mother-to-child transmission of Epstein-Barr virus infection"], "xref": ["GARD:0018903", "MEDGEN:908580", "Orphanet:70596", "SCTID:716660007", "UMLS:C4274357", "icd11.foundation:1861788994"]}
{"category": ["biolink:Disease"], "description": "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.", "id": "MONDO:0019095", "name": "Plague", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["plague"], "xref": ["DOID:3482", "EFO:0009425", "GARD:0018702", "ICD10CM:A20", "ICD10WHO:A20", "ICD9:020", "ICD9:020.9", "ICD9:136.8", "MEDGEN:10785", "MESH:D010930", "MedDRA:10035148", "MedDRA:10061416", "NCIT:C85015", "NORD:1583", "Orphanet:707", "SCTID:58750007", "UMLS:C0032064", "icd11.foundation:1596449540"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of thrombocytopenia.", "id": "MONDO:0019098", "name": "Autoimmune thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018906", "MEDGEN:116621", "MedDRA:10050245", "Orphanet:71203", "SCTID:128091003", "UMLS:C0242584"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.", "id": "MONDO:0019100", "name": "Neuromyelitis optica", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Devic disease", "Neuromyelitis Optica Spectrum Disorder"], "xref": ["DOID:8869", "EFO:0004256", "GARD:0006267", "ICD10CM:G36.0", "ICD9:341.0", "MEDGEN:45063", "MESH:D009471", "MedDRA:10029322", "NANDO:1200027", "NANDO:2201322", "NCIT:C84934", "NORD:1505", "Orphanet:71211", "SCTID:25044007", "UMLS:C0027873", "icd11.foundation:744293382"]}
{"category": ["biolink:Disease"], "description": "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.", "id": "MONDO:0019101", "name": "Retinal capillary malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018908", "Orphanet:71213"]}
{"category": ["biolink:Disease"], "description": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.", "id": "MONDO:0019102", "name": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018909", "MEDGEN:929261", "Orphanet:71267", "SCTID:721089006", "UMLS:C4303592"]}
{"category": ["biolink:Disease"], "description": "Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.", "id": "MONDO:0019103", "name": "Benign exophthalmos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bes"], "xref": ["MEDGEN:930337", "Orphanet:71269", "SCTID:719519007", "UMLS:C4304668", "icd11.foundation:1241377630"]}
{"category": ["biolink:Disease"], "description": "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.", "id": "MONDO:0019104", "name": "Sandifer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0009684", "MEDGEN:90922", "MESH:C537234", "MedDRA:10066142", "NCIT:C113397", "Orphanet:71272", "SCTID:230314007", "UMLS:C0338465"]}
{"category": ["biolink:Disease"], "description": "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.", "id": "MONDO:0019105", "name": "Renal nutcracker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RNS", "left renal vein entrapment syndrome"], "xref": ["EFO:1001838", "GARD:0011971", "MEDGEN:465238", "MESH:D059228", "Orphanet:71273", "SCTID:717267005", "UMLS:C3178770"]}
{"category": ["biolink:Disease"], "description": "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.", "id": "MONDO:0019107", "name": "Rh deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Rh deficiency syndrome", "Rh-null syndrome", "anemia, hemolytic, Rh-null, regulator type"], "xref": ["DOID:0050641", "GARD:0012916", "MEDGEN:75772", "MESH:C562717", "OMIM:268150", "Orphanet:71275", "SCTID:37272000", "UMLS:C0272052", "icd11.foundation:1554765420"]}
{"category": ["biolink:Disease"], "description": "Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.", "id": "MONDO:0019108", "name": "Silent sinus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Imploding antrum syndrome"], "xref": ["GARD:0018910", "ICD9:478.19", "MEDGEN:785359", "Orphanet:71276", "SCTID:699802009", "UMLS:C3698095", "icd11.foundation:1204931989"]}
{"category": ["biolink:Disease"], "description": "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.", "id": "MONDO:0019109", "name": "Canomad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome", "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies"], "xref": ["GARD:0009778", "MEDGEN:419872", "MESH:C537980", "Orphanet:71279", "SCTID:715624006", "UMLS:C2931684"]}
{"category": ["biolink:Disease"], "description": "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.", "id": "MONDO:0019111", "name": "Familial thrombocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["THCYT", "familial thrombocythemia", "hereditary thrombocythemia", "hereditary thrombocytosis", "hereditary thrombocytosis disease"], "xref": ["GARD:0016688", "MEDGEN:929430", "OMIMPS:187950", "Orphanet:71493", "SCTID:720950009", "UMLS:C4303761", "icd11.foundation:1695088249"]}
{"category": ["biolink:Disease"], "description": "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.", "id": "MONDO:0019112", "name": "Cancer-associated retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAR syndrome", "paraneoplastic retinopathy"], "xref": ["GARD:0018912", "ICD9:362.10", "MEDGEN:729915", "MESH:D059545", "Orphanet:71505", "SCTID:404663008", "UMLS:C1321315", "icd11.foundation:1216073790"]}
{"category": ["biolink:Disease"], "description": "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.", "id": "MONDO:0019113", "name": "Benign paroxysmal torticollis of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018913", "MEDGEN:782128", "Orphanet:71518", "SCTID:719521002", "UMLS:C3494934", "icd11.foundation:545726308"]}
{"category": ["biolink:Disease"], "description": "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.", "id": "MONDO:0019114", "name": "Psychogenic movement disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["psychogenic dystonia"], "xref": ["GARD:0018914", "MEDGEN:155722", "MedDRA:10072376", "Orphanet:71519", "UMLS:C0752208", "icd11.foundation:1905355308"]}
{"category": ["biolink:Disease"], "description": "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.", "id": "MONDO:0019115", "name": "Obesity due to melanocortin 4 receptor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MC4R deficiency"], "xref": ["GARD:0016690", "MEDGEN:903905", "NCIT:C120394", "Orphanet:71529", "SCTID:717269008", "UMLS:C4273958"]}
{"category": ["biolink:Disease"], "description": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0019118", "name": "Inherited retinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["familial retinal dystrophy", "genetic retinal dystrophy", "hereditary retinal degeneration", "hereditary retinal dystrophy", "inherited retinal dystrophy", "retinal dystrophy"], "xref": ["DOID:8500", "DOID:8501", "GARD:0018916", "HP:0000556", "ICD10CM:H35.5", "ICD9:362.7", "ICD9:362.70", "ICD9:362.72", "ICD9:362.75", "MEDGEN:208903", "MESH:D058499", "MedDRA:10038857", "NCIT:C35194", "NCIT:C35625", "Orphanet:71862", "SCTID:314407005", "SCTID:41799005", "UMLS:C0854723"]}
{"category": ["biolink:Disease"], "description": "A channelopathy that involves the muscle tissue.", "id": "MONDO:0019119", "name": "Muscular channelopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["channelopathy of muscle tissue", "muscle tissue channelopathy"], "xref": ["GARD:0018917", "MEDGEN:1842600", "Orphanet:71864", "UMLS:C5681306"]}
{"category": ["biolink:Disease"], "description": "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.", "id": "MONDO:0019120", "name": "Pili bifurcati", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018703", "MEDGEN:1812698", "Orphanet:720", "SCTID:717360009", "UMLS:C5574653", "icd11.foundation:674923489"]}
{"category": ["biolink:Disease"], "description": "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.", "id": "MONDO:0019121", "name": "Pneumocystosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCP", "PJP", "Pneumocystis", "Pneumocystis Pneumonia", "Pneumocystis carinii pneumonia", "Pneumocystis jirovecii pneumonia", "Pneumocystis pneumonia", "pneumocystosis"], "xref": ["DOID:11339", "EFO:0007448", "GARD:0004386", "ICD10CM:B59", "ICD9:136.3", "MEDGEN:777048", "MESH:D011020", "NCIT:C3334", "NORD:1923", "Orphanet:723", "SCTID:415125002", "UMLS:C1535939", "icd11.foundation:404370038"]}
{"category": ["biolink:Disease"], "description": "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.", "id": "MONDO:0019122", "name": "Idiopathic acute eosinophilic pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Acute Eosinophilic Pneumonia", "IAEP", "Loeffler syndrome", "Loffler syndrome", "Loffler's syndrome", "Löffler syndrome"], "xref": ["DOID:9503", "GARD:0000519", "MEDGEN:1371970", "NCIT:C35301", "NORD:728", "Orphanet:724", "SCTID:64936001", "UMLS:C4518469", "icd11.foundation:1455309767"]}
{"category": ["biolink:Disease"], "description": "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.", "id": "MONDO:0019124", "name": "Microscopic polyangiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPA", "Micropolyangiitis", "microscopic polyarteritis"], "xref": ["EFO:1000784", "GARD:0003652", "ICD10CM:M31.7", "MEDGEN:389393", "MESH:D055953", "MedDRA:10063344", "NANDO:1200262", "NANDO:2200426", "NCIT:C70549", "Orphanet:727", "SCTID:239928004", "UMLS:C2347126", "icd11.foundation:999231798"]}
{"category": ["biolink:Disease"], "description": "A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.", "id": "MONDO:0019125", "name": "Relapsing polychondritis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2556", "EFO:1001148", "GARD:0007417", "ICD10CM:M94.1", "ICD9:733.99", "MEDGEN:45995", "MESH:D011081", "MedDRA:10038304", "NANDO:1200283", "NANDO:2100154", "NANDO:2200428", "NCIT:C157268", "NORD:1655", "Orphanet:728", "SCTID:72275000", "UMLS:C0032453", "icd11.foundation:1412888287"]}
{"category": ["biolink:Disease"], "description": "A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.", "id": "MONDO:0019127", "name": "Polymyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PM", "polymyositis"], "xref": ["DOID:0080745", "EFO:0003063", "GARD:0007425", "ICD10CM:M33.2", "ICD9:710.4", "MEDGEN:39086", "MESH:D017285", "MedDRA:10036102", "NANDO:1200276", "NCIT:C26925", "Orphanet:732", "SCTID:31384009", "UMLS:C0085655", "Wikipedia:Polymyositis", "icd11.foundation:1157134196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019128", "name": "Mullerian aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Mullerian duct failure", "Müllerian duct failure", "aplasia of the Mullerian ducts", "aplasia of the Müllerian ducts"], "xref": ["GARD:0007100", "MEDGEN:98466", "MESH:C537371", "Orphanet:73217", "SCTID:253828000", "UMLS:C0431637"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies.", "id": "MONDO:0019129", "name": "Global developmental delay-osteopenia-ectodermal defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018919", "MEDGEN:929239", "Orphanet:73223", "SCTID:717813005", "UMLS:C4303570"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.", "id": "MONDO:0019130", "name": "Tubular renal disease-cardiomyopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018920", "MEDGEN:930068", "Orphanet:73224", "UMLS:C4304399"]}
{"category": ["biolink:Disease"], "description": "Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.", "id": "MONDO:0019131", "name": "Ossification anomalies-psychomotor developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018921", "MEDGEN:928495", "Orphanet:73230", "UMLS:C4302826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019132", "name": "Spinal muscular atrophy-dandy-walker malformation-cataracts syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018922", "MEDGEN:1393821", "Orphanet:73245", "UMLS:C4509964"]}
{"category": ["biolink:Disease"], "description": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).", "id": "MONDO:0019133", "name": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018923", "MEDGEN:930071", "Orphanet:73246", "UMLS:C4304402"]}
{"category": ["biolink:Disease"], "description": "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.", "id": "MONDO:0019134", "name": "Central neurocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["central neurocytoma (WHO grade II)"], "xref": ["DOID:14174", "GARD:0010641", "ICDO:9506/1", "MEDGEN:104924", "MESH:D018306", "NCIT:C3791", "ONCOTREE:CNC", "Orphanet:73256", "UMLS:C0206719", "icd11.foundation:1247650801", "icd11.foundation:2039766091"]}
{"category": ["biolink:Disease"], "description": "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.", "id": "MONDO:0019136", "name": "Zygomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mucormycosis", "Zygomycota infectious disease", "mucormycosis"], "xref": ["DOID:8485", "EFO:0007380", "GARD:0010224", "ICD10CM:B46", "ICD10WHO:B46", "ICD9:117.7", "MEDGEN:12207", "MESH:D009091", "MESH:D020096", "MedDRA:10028098", "MedDRA:10061418", "NCIT:C77212", "NORD:1946", "Orphanet:73263", "SCTID:59277005", "SCTID:76627001", "UMLS:C0043541", "icd11.foundation:1676389165"]}
{"category": ["biolink:Disease"], "description": "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.", "id": "MONDO:0019137", "name": "Non-24-hour sleep-wake syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Non-24-Hour Sleep-Wake Disorder", "circadian rhythm sleep disorder, free running type", "circadian rhythm sleep disorder, free-running type", "hypernychthemeral syndrome", "non-24"], "xref": ["GARD:0010949", "ICD10CM:G47.24", "MEDGEN:148383", "NORD:1511", "Orphanet:73267", "SCTID:230496009", "UMLS:C0751759"]}
{"category": ["biolink:Disease"], "description": "Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.", "id": "MONDO:0019139", "name": "Acquired hemophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acquired hemophilia", "hemophilia, acquired"], "xref": ["GARD:0010350", "ICD10CM:D68.311", "MEDGEN:204253", "MedDRA:10053745", "NANDO:1200898", "Orphanet:73274", "UMLS:C1096116"]}
{"category": ["biolink:Disease"], "description": "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.", "id": "MONDO:0019140", "name": "Acute ackee fruit intoxication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Jamaican vomiting sickness", "Jamaican vomiting syndrome", "acute intoxication by Blighia sapida"], "xref": ["GARD:0009299", "ICD9:988.2", "MESH:C537562", "Orphanet:73423", "SCTID:49434001"]}
{"category": ["biolink:Disease"], "description": "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.", "id": "MONDO:0019141", "name": "Porokeratosis of mibelli", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0004438", "ICD9:757.39", "MEDGEN:181842", "Orphanet:735", "SCTID:80432009", "UMLS:C0949506"]}
{"category": ["biolink:Disease"], "description": "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.", "id": "MONDO:0019142", "name": "Inherited porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hereditary porphyria"], "xref": ["DOID:13268", "GARD:0010353", "MEDGEN:698423", "MedDRA:10036181", "MedDRA:10061356", "NANDO:2200610", "Orphanet:738", "SCTID:371628009", "UMLS:C1275125"]}
{"category": ["biolink:Disease"], "description": "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.", "id": "MONDO:0019143", "name": "Angiostrongyliasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0050256", "GARD:0000683", "ICD9:128.8", "MEDGEN:98230", "MESH:C536369", "MedDRA:10069517", "NCIT:C128394", "Orphanet:74", "SCTID:61750000", "UMLS:C0392662", "icd11.foundation:1768378720"]}
{"category": ["biolink:Disease"], "description": "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.", "id": "MONDO:0019144", "name": "Hereditary thrombophilia due to congenital protein s deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive thrombophilia due to congenital protein S deficiency", "hereditary thrombophilia due to congenital protein S deficiency"], "xref": ["DOID:0111905", "GARD:0016543", "MEDGEN:748876", "Orphanet:743", "UMLS:C2584611", "icd11.foundation:1305244529"]}
{"category": ["biolink:Disease"], "description": "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.", "id": "MONDO:0019145", "name": "Hereditary thrombophilia due to congenital protein c deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Protein C Deficiency", "Protein C deficiency", "Protein C deficiency disease", "hereditary thrombophilia due to congenital protein C deficiency", "protein C deficiency", "severe hereditary thrombophilia due to congenital protein C deficiency"], "xref": ["DOID:3756", "GARD:0016544", "MEDGEN:671121", "MESH:C535424", "MESH:D020151", "NANDO:1201080", "NANDO:2100197", "NANDO:2200689", "NCIT:C99025", "NORD:1899", "Orphanet:745", "SCTID:76407009", "UMLS:C0598221", "icd11.foundation:2021932081"]}
{"category": ["biolink:Disease"], "description": "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.", "id": "MONDO:0019147", "name": "Myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["infestation by fly larvae", "infestation by maggots", "maggot infestation", "myiasis, unspecified"], "xref": ["DOID:11080", "EFO:0007389", "GARD:0018924", "ICD10CM:B87", "ICD10WHO:B87", "ICD9:134.0", "MEDGEN:10148", "MESH:D009198", "MedDRA:10028586", "NCIT:C128400", "Orphanet:75110", "SCTID:60412004", "UMLS:C0027030", "icd11.foundation:1367149207"]}
{"category": ["biolink:Disease"], "description": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.", "id": "MONDO:0019148", "name": "Wolman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Wolman disease with hypolipoproteinemia and acanthocytosis", "Wolman's disease"], "xref": ["DOID:14497", "GARD:0007899", "MEDGEN:53088", "MESH:C564736", "MESH:D015223", "MedDRA:10053687", "NANDO:1200142", "NANDO:1200143", "NANDO:2200570", "NANDO:2201232", "NCIT:C61271", "NORD:1862", "OMIM:620151", "Orphanet:75233", "SCTID:238074007", "SCTID:82500001", "UMLS:C0043208", "icd11.foundation:520367511"]}
{"category": ["biolink:Disease"], "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.", "id": "MONDO:0019149", "name": "Cholesteryl ester storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["LAL deficiency, partial", "LIPA deficiency, partial", "cholesterol ester hydrolase deficiency, partial", "cholesterol ester storage disease", "lysosomal acid lipase deficiency, partial"], "xref": ["DOID:14502", "GARD:0012099", "MEDGEN:40266", "NANDO:1200144", "NANDO:2201233", "NORD:929", "OMIM:278000", "Orphanet:75234", "SCTID:57218003", "UMLS:C0008384", "icd11.foundation:894336362"]}
{"category": ["biolink:Disease"], "description": "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.", "id": "MONDO:0019151", "name": "Oligocone trichromacy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oligocone syndrome"], "xref": ["GARD:0018925", "MEDGEN:928545", "Orphanet:75378", "SCTID:722066001", "UMLS:C4302876", "icd11.foundation:645985320"]}
{"category": ["biolink:Disease"], "description": "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.", "id": "MONDO:0019152", "name": "Oguchi disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oguchi disease", "Oguchi syndrome", "congenital stationary night blindness, Oguchi type"], "xref": ["GARD:0010118", "MEDGEN:224927", "MESH:C537743", "Orphanet:75382", "UMLS:C1306122", "icd11.foundation:1759055065"]}
{"category": ["biolink:Disease"], "description": "Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.", "id": "MONDO:0019153", "name": "Brain malformation-congenital heart disease-postaxial polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goossens-Devriendt syndrome"], "xref": ["GARD:0018926", "MEDGEN:929214", "Orphanet:75389", "SCTID:717943008", "UMLS:C4303545"]}
{"category": ["biolink:Disease"], "description": "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).", "id": "MONDO:0019154", "name": "Androgen insensitivity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Goldberg-Maxwell syndrome", "Morris syndrome", "androgen insensitivity syndrome", "androgen insensitivity, X-linked recessive", "androgen resistance syndrome", "testicular feminization syndrome"], "xref": ["DOID:4674", "GARD:0005803", "ICD10CM:E34.5", "ICD9:259.5", "ICD9:259.51", "ICD9:259.8", "MEDGEN:21102", "MESH:D013734", "MedDRA:10056292", "NANDO:2200391", "NCIT:C27226", "OMIM:300068", "Orphanet:754", "SCTID:12313004", "UMLS:C0039585"]}
{"category": ["biolink:Disease"], "description": "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.", "id": "MONDO:0019155", "name": "Leydig cell hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XY DSD due to LH resistance or LHB deficiency", "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "46,XY disorder of sex development due to LH resistance or LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "Male pseudohermaphroditism due to LH resistance or LHB deficiency", "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"], "xref": ["DOID:0112259", "GARD:0003244", "MEDGEN:449533", "MESH:C562567", "MedDRA:10024406", "Orphanet:755", "UMLS:C0860158", "icd11.foundation:472787488"]}
{"category": ["biolink:Disease"], "description": "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.", "id": "MONDO:0019156", "name": "Angioosteohypotrophic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Phlebectatic osteohypoplastic angiodysplasia", "Servelle-Martorell syndrome"], "xref": ["GARD:0018927", "MEDGEN:1641209", "Orphanet:75508", "SCTID:765750001", "UMLS:C4707561"]}
{"category": ["biolink:Disease"], "description": "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.", "id": "MONDO:0019157", "name": "Myelodysplastic syndrome with ring sideroblasts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AISA", "MDS with ring sideroblasts", "MDS-RS", "Pure sideroblastic Anaemia", "Pure sideroblastic Anemia", "RARS", "acquired idiopathic sideroblastic anaemia", "acquired idiopathic sideroblastic anemia", "myelodysplastic syndrome with Ring sideroblasts", "primary acquired sideroblastic anaemia", "primary acquired sideroblastic anemia", "refractory Anaemia with Ring sideroblasts", "refractory Anaemia with ringed sideroblasts", "refractory Anemia with Ring sideroblasts", "refractory Anemia with ringed sideroblasts", "refractory anaemia with ringed sideroblasts", "refractory anemia with ringed sideroblasts"], "xref": ["EFO:0003812", "GARD:0008249", "ICD10CM:D46.1", "ICD9:238.72", "ICDO:9982/3", "MEDGEN:865038", "NCIT:C4036", "Orphanet:75564", "SCTID:109998009", "UMLS:C4016601", "icd11.foundation:1793160341"]}
{"category": ["biolink:Disease"], "description": "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.", "id": "MONDO:0019158", "name": "Tropical endomyocardial fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Davies disease", "TEMF"], "xref": ["GARD:0018928", "MEDGEN:909153", "Orphanet:75565", "SCTID:715626008", "UMLS:C2882252"]}
{"category": ["biolink:Disease"], "description": "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.", "id": "MONDO:0019159", "name": "Loeffler endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["eosinophilic endocarditis", "eosinophilic endomyocardial disease"], "xref": ["DOID:396", "GARD:0018929", "MEDGEN:104788", "MedDRA:10052841", "NCIT:C27044", "Orphanet:75566", "SCTID:449829009", "UMLS:C0206143", "icd11.foundation:1223390562"]}
{"category": ["biolink:Disease"], "description": "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.", "id": "MONDO:0019160", "name": "Primary progressive freezing gait", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PPFG"], "xref": ["GARD:0018930", "MEDGEN:894846", "Orphanet:75567", "SCTID:715627004", "UMLS:C4275078", "icd11.foundation:431694225"]}
{"category": ["biolink:Disease"], "description": "A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.", "id": "MONDO:0019161", "name": "Pseudohypoaldosteronism type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PHA type 1", "pseudohypoaldosteronism, type I"], "xref": ["GARD:0016545", "ICD9:275.8", "MEDGEN:82805", "NANDO:2200368", "NCIT:C123251", "OMIMPS:177735", "Orphanet:756", "SCTID:43941006", "UMLS:C0268436", "icd11.foundation:1576878036"]}
{"category": ["biolink:Disease"], "description": "A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.", "id": "MONDO:0019162", "name": "Pseudohypoaldosteronism type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gordon hyperkalemia-hypertension syndrome", "PHA2", "PHAII", "Spitzer-Weinstein syndrome", "chloride shunt syndrome", "familial hyperkalemic hypertension", "hyperkalemia-hypertension syndrome, Gordon type", "hypertensive hyperkalemia", "mineralocorticoid resistant hyperkalemia", "pseudohypoaldosteronism, type 2", "pseudohypoaldosteronism, type II"], "xref": ["GARD:0004553", "ICD9:588.89", "MEDGEN:259599", "NANDO:2200369", "NCIT:C123252", "OMIMPS:145260", "Orphanet:757", "SCTID:15689008", "UMLS:C1449844", "icd11.foundation:715347509"]}
{"category": ["biolink:Disease"], "description": "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.", "id": "MONDO:0019164", "name": "6q terminal deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018931", "MEDGEN:930183", "Orphanet:75857", "SCTID:719666002", "UMLS:C4304514"]}
{"category": ["biolink:Disease"], "description": "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).", "id": "MONDO:0019165", "name": "Central precocious puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["gonadotropin-dependant precocious puberty", "gonadotropin-dependent precocious puberty", "precocious puberty, central"], "xref": ["DOID:0112308", "EFO:0009029", "GARD:0016546", "ICD9:259.1", "MEDGEN:90985", "MESH:C562787", "NANDO:1200381", "NANDO:2200377", "OMIMPS:176400", "Orphanet:650063", "Orphanet:759", "SCTID:237816004", "UMLS:C0342543", "icd11.foundation:1749914533"]}
{"category": ["biolink:Disease"], "description": "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.", "id": "MONDO:0019167", "name": "Immunoglobulin a vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HSP", "IgA vasculitis", "Schoenlein-Henoch purpura", "allergic purpura", "anaphylactoid purpura", "purpura rheumatica", "rheumatoid purpura"], "xref": ["DOID:11123", "GARD:0008204", "ICD10CM:D69.0", "ICD9:287.0", "MEDGEN:48265", "MESH:D011695", "NCIT:C34963", "Orphanet:761", "SCTID:191306005", "SCTID:86074002", "UMLS:C0034152", "icd11.foundation:1629105375"]}
{"category": ["biolink:Disease"], "description": "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.", "id": "MONDO:0019168", "name": "Pyomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PM", "myositis purulenta tropica", "myositis tropicans", "suppurative myositis", "tropical pyomyositis"], "xref": ["DOID:876", "EFO:1001409", "GARD:0004614", "ICD9:040.81", "MEDGEN:52862", "MESH:D052880", "MedDRA:10037652", "NCIT:C128382", "Orphanet:764", "SCTID:65110003", "UMLS:C0041188", "icd11.foundation:856598467"]}
{"category": ["biolink:Disease"], "description": "A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.", "id": "MONDO:0019169", "name": "Pyruvate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PDH", "PDHC", "Pyruvate Dehydrogenase Complex Deficiency", "pyruvate decarboxylase deficiency", "pyruvate dehydrogenase complex deficiency", "pyruvate dehydrogenase deficiency"], "xref": ["DOID:3649", "GARD:0007513", "ICD9:277.89", "MEDGEN:19610", "NANDO:2200518", "NCIT:C103968", "NORD:1641", "OMIMPS:312170", "Orphanet:765", "SCTID:46683007", "UMLS:C0034345", "icd11.foundation:1124597954"]}
{"category": ["biolink:Disease"], "description": "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.", "id": "MONDO:0019170", "name": "Polyarteritis nodosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Küssmaul-Maier disease", "PAN", "classic polyarteritis nodosa", "classical polyarteritis nodosa", "panarteritis nodosa", "periarteritis nodosa", "polyarteritis nodosa"], "xref": ["DOID:9810", "GARD:0007360", "ICD10CM:M30.0", "ICD9:446.0", "MEDGEN:14681", "MESH:D010488", "MedDRA:10036024", "NANDO:1200261", "NANDO:2200425", "NCIT:C26847", "NORD:1588", "Orphanet:767", "SCTID:155441006", "UMLS:C0031036", "icd11.foundation:1419332129"]}
{"category": ["biolink:Disease"], "description": "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.", "id": "MONDO:0019171", "name": "Familial long qt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_group_of_disorders", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LQTS", "Romano-Ward long QT syndrome", "Romano-Ward syndrome", "Ward-Romano syndrome", "congenital long QT syndrome", "familial long QT syndrome", "hereditary long QT syndrome"], "xref": ["GARD:0016547", "MEDGEN:685787", "MedDRA:10057926", "NANDO:2200228", "NORD:1675", "OMIMPS:192500", "Orphanet:101016", "Orphanet:768", "SCTID:442917000", "UMLS:C1141890", "icd11.foundation:1208831985"]}
{"category": ["biolink:Disease"], "description": "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).", "id": "MONDO:0019172", "name": "Aniridia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["aplasia of iris"], "xref": ["DOID:12271", "GARD:0027869", "ICD10CM:Q13.1", "ICD9:743.45", "MEDGEN:1941", "MESH:D015783", "MedDRA:10002532", "NANDO:1201001", "NCIT:C84563", "Orphanet:77", "SCTID:69278003", "UMLS:C0003076", "icd11.foundation:970699895"]}
{"category": ["biolink:Disease"], "description": "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.", "id": "MONDO:0019173", "name": "Rabies", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lyssa"], "xref": ["DOID:11260", "GARD:0007516", "ICD10CM:A82", "ICD10WHO:A82", "ICD9:071", "MEDGEN:48308", "MESH:D011818", "MedDRA:10037742", "NCIT:C28182", "NORD:1644", "Orphanet:770", "SCTID:14168008", "UMLS:C0034494", "icd11.foundation:854762584"]}
{"category": ["biolink:Disease"], "description": "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.", "id": "MONDO:0019175", "name": "Primary lymphedema", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Troncular lymphatic malformation", "primary lymphedema"], "xref": ["GARD:0018932", "MEDGEN:1804666", "NANDO:2201031", "NCIT:C48829", "Orphanet:77240", "UMLS:C5576443", "icd11.foundation:794588197"]}
{"category": ["biolink:Disease"], "description": "A leukodystrophy characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.", "id": "MONDO:0019177", "name": "Odontoleukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dentoleukoencephalopathy", "leukodystrophy with oligodontia"], "xref": ["GARD:0009632", "MEDGEN:502456", "Orphanet:77295", "SCTID:722064003", "UMLS:C3502054"]}
{"category": ["biolink:Disease"], "description": "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.", "id": "MONDO:0019178", "name": "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018933", "MEDGEN:1378358", "Orphanet:77300", "UMLS:C4518478"]}
{"category": ["biolink:Disease"], "description": "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.", "id": "MONDO:0019179", "name": "Monosomy 9q22.3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["microdeletion 9q22.3"], "xref": ["GARD:0018934", "MEDGEN:777998", "MESH:C579873", "Orphanet:77301", "SCTID:724098008", "UMLS:C3711390"]}
{"category": ["biolink:Disease"], "description": "A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.", "id": "MONDO:0019180", "name": "Hereditary hemorrhagic telangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HHT", "Osler-Weber-Rendu disease", "Rendu-Osler disease", "Rendu-Osler-Weber disease", "hereditary hemorrhagic telangiectasia", "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler", "telangiectasia, hereditary hemorrhagic"], "xref": ["DOID:1270", "GARD:0006626", "ICD10CM:I78.0", "ICD9:448.0", "MEDGEN:52657", "MESH:D013683", "MedDRA:10019883", "NANDO:1200744", "NANDO:2100296", "NANDO:2201034", "NCIT:C35064", "NORD:1229", "OMIMPS:187300", "Orphanet:774", "SCTID:21877004", "UMLS:C0039445", "icd11.foundation:714406192"]}
{"category": ["biolink:Disease"], "description": "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.", "id": "MONDO:0019181", "name": "Non-syndromic x-linked intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["X-linked non-specific intellectual disability", "X-linked non-syndromic intellectual disability", "intellectual disability, X-linked, nonsyndromic", "intellectual disability, nonsyndromic, X-linked", "mental retardation, X-linked, nonsyndromic", "mental retardation, nonsyndromic, X-linked", "non-specific X-linked intellectual disability", "non-syndromic X-linked intellectual disability", "non-syndromic intellectual disability, X-linked", "nonsyndromic X-linked intellectual disability"], "xref": ["DOID:0050776", "GARD:0018640", "MEDGEN:502019", "MESH:C564490", "OMIMPS:309530", "Orphanet:777", "UMLS:C3501611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019182", "name": "Inherited obesity", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic obesity", "genetic obesity (disease)", "leanness, inherited, autosomal recessive", "monogenic obesity", "obesity, association with, Autosomal recessive", "obesity, early-onset, susceptibility to, Autosomal recessive", "obesity, late-onset, Autosomal recessive", "obesity, mild, early-onset, Autosomal recessive", "obesity, severe, Autosomal recessive", "obesity, severe, and type II diabetes, Autosomal recessive", "obesity, susceptibility to, Autosomal recessive"], "xref": ["GARD:0018935", "MEDGEN:885912", "OMIM:601665", "Orphanet:77828", "UMLS:C4054476"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.", "id": "MONDO:0019186", "name": "Q fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Coxiella burnetii caused disease or disorder", "Coxiella burnetii disease or disorder", "Coxiella burnetii infectious disease", "Coxiellosis", "infection due to Coxiella burnetii", "nine Mile fever", "quadrilateral fever", "query fever"], "xref": ["DOID:11100", "EFO:0005224", "GARD:0007515", "ICD10CM:A78", "ICD10WHO:A78", "ICD9:083.0", "MEDGEN:48290", "MESH:D011778", "MedDRA:10037688", "MedDRA:10037731", "NCIT:C34970", "NORD:1643", "Orphanet:781", "SCTID:186788009", "UMLS:C0034362", "icd11.foundation:2113860626"]}
{"category": ["biolink:Disease"], "description": "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.", "id": "MONDO:0019187", "name": "Axenfeld-rieger syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARS", "Axenfeld syndrome", "Axenfeldt-Rieger syndrome", "Rieger syndrome"], "xref": ["DOID:14686", "GARD:0005701", "ICD9:743.44", "MEDGEN:501192", "MESH:C535679", "MedDRA:10059255", "NCIT:C131001", "NORD:1670", "OMIMPS:180500", "Orphanet:782", "SCTID:47507006", "UMLS:C3495488"]}
{"category": ["biolink:Disease"], "description": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.", "id": "MONDO:0019188", "name": "Rubinstein-taybi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein-Taybi Syndrome"], "xref": ["DECIPHER:7", "DOID:1933", "GARD:0007593", "ICD9:759.89", "MEDGEN:48517", "MESH:D012415", "MedDRA:10039281", "NANDO:1200461", "NANDO:2200955", "NCIT:C75466", "NORD:1682", "OMIMPS:180849", "Orphanet:783", "SCTID:45582004", "UMLS:C0035934", "icd11.foundation:692585833"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019189", "name": "Inborn disorder of amino acid and other organic acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of amino acid and organic acid metabolism"], "xref": ["GARD:0018937", "ICD9:270.8", "MEDGEN:575169", "Orphanet:79062", "SCTID:237911005", "UMLS:C0342666"]}
{"category": ["biolink:Disease"], "description": "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.", "id": "MONDO:0019190", "name": "Juvenile polyposis of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["infantile juvenile polyposis syndrome", "infantile onset juvenile polyposis syndrome", "juvenile polyposis syndrome of infancy"], "xref": ["GARD:0016696", "MEDGEN:1778573", "Orphanet:79076", "UMLS:C5445164", "icd11.foundation:378686036"]}
{"category": ["biolink:Disease"], "description": "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.", "id": "MONDO:0019191", "name": "Igg4-related dacryoadenitis and sialadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Mikulicz disease", "chronic dacryoadenitis and sialadenitis"], "xref": ["DOID:12900", "GARD:0007043", "MEDGEN:6399", "MESH:D008882", "MedDRA:10051457", "MedDRA:10052317", "NANDO:1200929", "NCIT:C34819", "Orphanet:79078", "SCTID:7826003", "UMLS:C0026103", "icd11.foundation:796087277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019192", "name": "Akt2-related familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AKT2-related FPLD"], "xref": ["GARD:0012599", "MEDGEN:1810936", "Orphanet:79085", "UMLS:C5680134"]}
{"category": ["biolink:Disease"], "description": "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).", "id": "MONDO:0019193", "name": "Acquired generalized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Lawrence syndrome", "Lawrence-Seip syndrome", "acquired generalized lipodystrophy", "acquired lipoatrophic diabetes"], "xref": ["DOID:0080300", "GARD:0012603", "MEDGEN:543499", "NANDO:1200860", "NCIT:C131089", "Orphanet:79086", "SCTID:86907008", "UMLS:C0271693"]}
{"category": ["biolink:Disease"], "description": "Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.", "id": "MONDO:0019194", "name": "Localized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["focal lipodystrophy"], "xref": ["GARD:0005867", "MEDGEN:1385527", "NCIT:C131814", "Orphanet:79088", "UMLS:C4329999"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.", "id": "MONDO:0019195", "name": "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIBM3", "IBM3", "hereditary inclusion body myopathy type 3", "inclusion body myopathy type 3"], "xref": ["GARD:0009494", "MEDGEN:1382737", "Orphanet:79091", "SCTID:724349009", "UMLS:C4510610"]}
{"category": ["biolink:Disease"], "description": "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterized by progressive ascending deficit over a period of several months or years.", "id": "MONDO:0019196", "name": "Foix-alajouanine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Subacute angiohypertrophic myelomalacia", "Subacute ascending necrotizing myelitis", "Subacute necrotizing myelitis", "angiodysgenetic necrotizing myelopathy", "familial osteosclerosis with abnormalities of the nervous system and meninges"], "xref": ["GARD:0004163", "ICD9:323.9", "MEDGEN:141629", "Orphanet:79093", "SCTID:230379007", "UMLS:C0472347", "icd11.foundation:937824238"]}
{"category": ["biolink:Disease"], "description": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.", "id": "MONDO:0019197", "name": "Folinic acid-responsive seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Folinic acid responsive seizures"], "xref": ["GARD:0018938", "MEDGEN:908191", "Orphanet:79097", "SCTID:717276003", "UMLS:C4273952", "icd11.foundation:723504178"]}
{"category": ["biolink:Disease"], "description": "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.", "id": "MONDO:0019198", "name": "Sympathetic ophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["sympathetic ophthalmia", "sympathetic uveitis"], "xref": ["DOID:12029", "EFO:1001205", "GARD:0018939", "ICD10CM:H44.13", "ICD9:360.11", "MEDGEN:45203", "MESH:D009879", "MedDRA:10042742", "Orphanet:79098", "SCTID:75315001", "UMLS:C0029077", "icd11.foundation:1639718137"]}
{"category": ["biolink:Disease"], "description": "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.", "id": "MONDO:0019199", "name": "Interstitial granulomatous dermatitis with arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ackerman dermatitis syndrome", "IGDA"], "xref": ["GARD:0018940", "MEDGEN:1658052", "Orphanet:79099", "UMLS:C4751206"]}
{"category": ["biolink:Disease"], "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.", "id": "MONDO:0019200", "name": "Retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["retinitis pigmentosa"], "xref": ["DOID:10584", "GARD:0005694", "MEDGEN:20551", "MESH:D012174", "MedDRA:10038914", "NANDO:1200431", "NCIT:C85045", "NORD:1661", "OMIM:268000", "OMIMPS:268000", "Orphanet:791", "SCTID:28835009", "UMLS:C0035334"]}
{"category": ["biolink:Disease"], "description": "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.", "id": "MONDO:0019201", "name": "Thyrotoxic periodic paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["thyrotoxic hypokalemic periodic paralysis"], "xref": ["GARD:0010814", "MEDGEN:120639", "MedDRA:10043788", "OMIMPS:188580", "Orphanet:79102", "SCTID:30967002", "UMLS:C0268446", "icd11.foundation:1457837313"]}
{"category": ["biolink:Disease"], "description": "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.", "id": "MONDO:0019202", "name": "Myxofibrosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fibromyxosarcoma", "myxofibrosarcoma", "myxoid MFH", "myxoid fibrous histiocytoma", "myxoid malignant fibrous histiocytoma"], "xref": ["DOID:0080534", "GARD:0018941", "ICDO:8811/3", "MEDGEN:811359", "MedDRA:10066948", "NCIT:C6496", "ONCOTREE:MFS", "Orphanet:79105", "SCTID:253042009", "UMLS:C3714524", "icd11.foundation:405689402"]}
{"category": ["biolink:Disease"], "description": "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.", "id": "MONDO:0019203", "name": "Acute interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AIP", "Hamman-rich syndrome", "acute interstitial pneumonitis"], "xref": ["DOID:2800", "GARD:0012835", "ICD10CM:J84.114", "ICD9:516.33", "MEDGEN:39340", "MedDRA:10066728", "NANDO:1200420", "NCIT:C35806", "Orphanet:79126", "SCTID:236302005", "UMLS:C0085786", "icd11.foundation:2116884221"]}
{"category": ["biolink:Disease"], "description": "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.", "id": "MONDO:0019204", "name": "Respiratory bronchiolitis-interstitial lung disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RB-ILD"], "xref": ["GARD:0018942", "MEDGEN:1672485", "MedDRA:10066393", "Orphanet:79127", "UMLS:C1735355", "icd11.foundation:822500243"]}
{"category": ["biolink:Disease"], "description": "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.", "id": "MONDO:0019205", "name": "Trichodysplasia-amelogenesis imperfecta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018943", "MEDGEN:930013", "Orphanet:79129", "UMLS:C4304344"]}
{"category": ["biolink:Disease"], "description": "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.", "id": "MONDO:0019207", "name": "Dend syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["K ATP associated developmental delay, epilepsy and neonatal diabetes", "developmental delay-epilepsy-neonatal diabetes syndrome"], "xref": ["GARD:0016701", "MEDGEN:929262", "NCIT:C131845", "Orphanet:79134", "SCTID:721088003", "UMLS:C4303593"]}
{"category": ["biolink:Disease"], "description": "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).", "id": "MONDO:0019208", "name": "Bickerstaff brainstem encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018944", "ICD9:323.81", "MEDGEN:743311", "NANDO:1200551", "Orphanet:79138", "SCTID:427086003", "UMLS:C1960543", "icd11.foundation:163316971"]}
{"category": ["biolink:Disease"], "description": "A disease due to a virus transmitted by an arthropod).", "id": "MONDO:0019209", "name": "Japanese encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Encephalitis, Japanese", "Japanese B encephalitis"], "xref": ["DOID:10844", "EFO:0007332", "GARD:0006797", "ICD10CM:A83.0", "ICD9:062.0", "MEDGEN:4032", "MESH:D004672", "MedDRA:10014596", "NCIT:C34577", "NORD:1088", "Orphanet:79139", "SCTID:52947006", "UMLS:C0014057", "icd11.foundation:961032639"]}
{"category": ["biolink:Disease"], "description": "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).", "id": "MONDO:0019210", "name": "Cutaneous neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MCC", "Merkel Cell Carcinoma", "Merkel cell cancer", "Merkel cell carcinoma", "Merkel cell tumor", "Merkel cell tumour", "carcinoma of Merkel cell", "cutaneous APUDoma", "cutaneous neuroendocrine carcinoma", "neuroendocrine carcinoma of skin", "neuroendocrine carcinoma of the skin", "neuroendocrine skin carcinoma", "trabecular cancer", "trabecular skin carcinoma"], "xref": ["GARD:0009266", "ICD10CM:C4A", "ICD9:209.36", "ICDO:8247/3", "MEDGEN:2843", "MESH:D015266", "NCIT:C9231", "NORD:1947", "ONCOTREE:MCC", "Orphanet:79140", "SCTID:253001006", "UMLS:C0007129", "icd11.foundation:680322043"]}
{"category": ["biolink:Disease"], "description": "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.", "id": "MONDO:0019211", "name": "Isolated congenital anonychia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated anonychia"], "xref": ["GARD:0010048", "MEDGEN:120563", "Orphanet:79143", "UMLS:C0265998"]}
{"category": ["biolink:Disease"], "description": "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.", "id": "MONDO:0019212", "name": "Disseminated superficial actinic porokeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0010983", "ICD10CM:L56.5", "ICD9:692.75", "MEDGEN:120561", "Orphanet:79152", "SCTID:41495000", "UMLS:C0265970", "icd11.foundation:1828294192"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.", "id": "MONDO:0019214", "name": "Inborn carbohydrate metabolic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["carbohydrate metabolism disorder", "inborn carbohydrate metabolic process disorder", "inborn error of carbohydrate metabolic process", "rare inborn error of carbohydrate metabolic process"], "xref": ["DOID:2978", "GARD:0018946", "ICD9:271.8", "MEDGEN:2825", "MESH:D002239", "MedDRA:10061023", "NANDO:2100164", "NCIT:C97089", "Orphanet:79161", "UMLS:C0007001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019215", "name": "Classic organic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018947", "MEDGEN:1842457", "Orphanet:79163", "UMLS:C5681291", "icd11.foundation:1879509617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019216", "name": "Inborn disorder of amino acid transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn disorder of amino acid absorption and transport"], "xref": ["GARD:0018948", "ICD9:270.0", "MEDGEN:541381", "Orphanet:79166", "SCTID:16784003", "UMLS:C0268641", "icd11.foundation:1631611896"]}
{"category": ["biolink:Disease"], "description": "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.", "id": "MONDO:0019218", "name": "Inborn disorder of bile acid synthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Bile Acid Synthesis Disorders", "inborn bile acid biosynthetic process disorder", "inborn error of bile acid biosynthetic process", "rare inborn error of bile acid biosynthetic process"], "xref": ["GARD:0018949", "GTR:AN0923838", "MEDGEN:98324", "NANDO:2200506", "NORD:854", "Orphanet:79168", "UMLS:C0400973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019219", "name": "Inborn disorder of neurotransmitter metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018950", "MEDGEN:1842206", "Orphanet:79169", "UMLS:C5681289"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.", "id": "MONDO:0019220", "name": "Inborn disorder of cobalamin metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn disorder of cobalamin metabolism and transport", "inborn error of cobalamin metabolic process", "inborn vitamin B12 deficiency (disease)", "rare inborn error of cobalamin metabolic process"], "xref": ["DOID:0050731", "GARD:0018951", "MEDGEN:1826150", "Orphanet:79171", "UMLS:C5681844", "icd11.foundation:936546617"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.", "id": "MONDO:0019222", "name": "Inborn disorder of methionine cycle and sulfur amino acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["cytosolic methyl group transfer or sulfur amino acid metabolism disorder", "cytosolic methyl group transfer or sulphur amino acid metabolism disorder", "inborn error of sulfur amino acid metabolic process", "inborn error of sulphur amino acid metabolic process", "inborn sulfur amino acid metabolic process disorder", "inborn sulphur amino acid metabolic process disorder", "rare inborn error of sulfur amino acid metabolic process", "rare inborn error of sulphur amino acid metabolic process"], "xref": ["GARD:0018953", "ICD9:270.4", "MEDGEN:1842381", "Orphanet:79173", "SCTID:28882002", "UMLS:C5680126", "icd11.foundation:67872354"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019223", "name": "Disorder of fatty acid and ketone body metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn disorder of fatty acid oxidation and ketone body metabolism"], "xref": ["GARD:0018954", "MEDGEN:1842462", "Orphanet:79174", "UMLS:C5681281"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.", "id": "MONDO:0019225", "name": "Disorder of gluconeogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["gluconeogenesis disorder", "inborn error of gluconeogenesis", "inborn gluconeogenesis disorder", "rare inborn error of gluconeogenesis"], "xref": ["GARD:0018956", "MEDGEN:1843360", "Orphanet:79177", "UMLS:C1398833"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of glucose transport.", "id": "MONDO:0019226", "name": "Glucose transport disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn error of glucose transport"], "xref": ["GARD:0018957", "MEDGEN:1842427", "Orphanet:79178", "UMLS:C5389835"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.", "id": "MONDO:0019228", "name": "Inborn disorder of histidine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of histidine metabolic process", "disorder of histidine metabolism", "disturbance of histidine metabolism", "histidine metabolic process disease", "histidine metabolism disease", "inborn disorder of histidine metabolism", "inborn error of histidine metabolic process", "inborn error of histidine metabolism", "inborn histidine metabolic process disorder", "rare inborn error of histidine metabolic process"], "xref": ["DOID:9265", "GARD:0018959", "ICD10CM:E70.40", "ICD9:270.5", "MEDGEN:541342", "Orphanet:79181", "SCTID:44176004", "UMLS:C0268512", "icd11.foundation:543162269"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.", "id": "MONDO:0019229", "name": "Inborn disorder of ketolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of ketone body catabolic process", "inborn ketone body catabolic process disorder", "rare inborn error of ketone body catabolic process"], "xref": ["GARD:0018960", "MEDGEN:1842927", "Orphanet:79183", "UMLS:C5681845", "icd11.foundation:1454722246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019230", "name": "Inborn disorder of ornithine or proline metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018961", "MEDGEN:1842760", "Orphanet:79185", "UMLS:C5681278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019231", "name": "Inborn disorder of pentose phosphate metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018962", "MEDGEN:1842861", "Orphanet:79186", "UMLS:C5681279", "icd11.foundation:2067324607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019232", "name": "Inborn disorder of peptide metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018963", "MEDGEN:1843166", "Orphanet:79187", "UMLS:C4736193", "icd11.foundation:1488430462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019233", "name": "Disorder of peroxisomal beta oxidation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of peroxisomal beta oxidation"], "xref": ["GARD:0012470", "MEDGEN:1843097", "NANDO:1200764", "Orphanet:79188", "UMLS:C5681280"]}
{"category": ["biolink:Disease"], "description": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).", "id": "MONDO:0019234", "name": "Peroxisome biogenesis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PBD, ZSS", "PBD-ZSD", "peroxisomal biogenesis disorders", "peroxisomal biogenesis disorders, Zellweger syndrome spectrum", "peroxisome biogenesis disorder", "peroxisome biogenesis disorder spectrum", "peroxisome biogenesis disorder-Zellweger syndrome spectrum", "peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "xref": ["DOID:0080377", "GARD:0011890", "MEDGEN:330407", "MESH:C531857", "MESH:C536664", "NANDO:1200759", "NANDO:2200575", "NCIT:C146639", "NCIT:C155747", "OMIMPS:214100", "Orphanet:79189", "SCTID:742876007", "UMLS:C1832200", "icd11.foundation:1919322367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019235", "name": "Inborn disorder of phenylalanine and tyrosine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn disorder of phenylalanin or tyrosine metabolism"], "xref": ["GARD:0018964", "MEDGEN:1842953", "Orphanet:79190", "UMLS:C5681284"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.", "id": "MONDO:0019236", "name": "Inborn disorder of purine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of purine nucleobase metabolic process", "inborn purine nucleobase metabolic process disorder", "rare inborn error of purine nucleobase metabolic process"], "xref": ["GARD:0018965", "MedDRA:10061476", "Orphanet:79191", "icd11.foundation:1958565793"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.", "id": "MONDO:0019237", "name": "Inborn disorder of pyridoxine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of pyridoxine metabolic process", "inborn pyridoxine metabolic process disorder", "rare inborn error of pyridoxine metabolic process"], "xref": ["GARD:0018966", "MEDGEN:1842882", "Orphanet:79192", "UMLS:C5681285", "icd11.foundation:1860570911"]}
{"category": ["biolink:Disease"], "description": "ANPM", "id": "MONDO:0019238", "name": "Inborn disorder of pyrimidine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of pyrimidine nucleobase metabolic process", "inborn pyrimidine nucleobase metabolic process disorder", "pyrimidine metabolic disorder", "rare inborn error of pyrimidine nucleobase metabolic process"], "xref": ["DOID:0050832", "GARD:0018967", "MEDGEN:541208", "MedDRA:10070969", "Orphanet:79193", "UMLS:C0268127", "icd11.foundation:771608363"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.", "id": "MONDO:0019239", "name": "Inborn disorder of serine family metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn disorder of serine or glycine metabolism", "inborn error of serine family amino acid metabolic process", "inborn serine family amino acid metabolic process disorder", "rare inborn error of serine family amino acid metabolic process"], "xref": ["GARD:0018968", "MEDGEN:1842840", "Orphanet:79194", "UMLS:C5681286"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.", "id": "MONDO:0019240", "name": "Sterol biosynthesis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of sterol biosynthetic process", "inborn sterol biosynthetic process disorder", "rare inborn error of sterol biosynthetic process"], "xref": ["GARD:0018969", "MEDGEN:1843040", "Orphanet:79195", "UMLS:C5681287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019241", "name": "Inborn disorder of the gamma-glutamyl cycle", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018970", "MEDGEN:541345", "Orphanet:79196", "SCTID:9128006", "UMLS:C0268517", "icd11.foundation:34853044"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.", "id": "MONDO:0019242", "name": "Inborn disorder of branched-chain amino acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["disorder of branched-chain amino acid metabolism", "inborn branched-chain amino acid metabolic process disorder", "inborn disorder of branched-chain amino acid metabolism", "inborn error of branched-chain amino acid metabolic process", "rare inborn error of branched-chain amino acid metabolic process"], "xref": ["GARD:0018971", "MEDGEN:87452", "Orphanet:79197", "SCTID:116020001", "UMLS:C0342712", "icd11.foundation:5456505"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.", "id": "MONDO:0019243", "name": "Inborn disorder of energy metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of generation of precursor metabolites and energy", "inborn generation of precursor metabolites and energy disorder", "rare inborn error of generation of precursor metabolites and energy"], "xref": ["GARD:0018972", "MEDGEN:1842265", "Orphanet:79200", "UMLS:C5681282"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.", "id": "MONDO:0019245", "name": "Lysosomal lipid storage disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inborn error of lipid storage", "lipid storage disease", "lipoid storage disease", "lipoid storage disorder", "rare inborn error of lipid storage"], "xref": ["DOID:9455", "GARD:0012511", "ICD9:272.7", "ICD9:272.8", "MEDGEN:9780", "MESH:D008064", "Orphanet:79204", "SCTID:10741005", "UMLS:C0023794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019246", "name": "Inborn disorder of lysosomal amino acid transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018974", "MEDGEN:1842266", "Orphanet:79207", "UMLS:C5681276"]}
{"category": ["biolink:Disease"], "description": "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.", "id": "MONDO:0019248", "name": "Mucolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080488", "GARD:0018975", "MEDGEN:7731", "MESH:D009081", "NCIT:C61267", "Orphanet:79212", "SCTID:70528007", "UMLS:C0026697", "icd11.foundation:714623911"]}
{"category": ["biolink:Disease"], "description": "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.", "id": "MONDO:0019249", "name": "Mucopolysaccharidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Mucopolysaccharidoses", "mucopolysaccharidoses", "mucopolysaccharidosis"], "xref": ["DOID:12798", "GARD:0007065", "ICD9:277.5", "MEDGEN:7733", "MESH:D009083", "MedDRA:10028093", "NCIT:C61259", "NORD:1461", "OMIMPS:607014", "Orphanet:79213", "SCTID:11380006", "UMLS:C0026703", "icd11.foundation:1596128696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019250", "name": "Inborn disorder of biogenic amine metabolism and transport", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018976", "MEDGEN:1842301", "Orphanet:79214", "UMLS:C5681274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019251", "name": "Oligosaccharidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018977", "MEDGEN:1787409", "Orphanet:79215", "SCTID:1155842003", "UMLS:C5547641", "icd11.foundation:1805681916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019253", "name": "Metabolic disease involving other neurotransmitter deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0018979", "MEDGEN:1843271", "Orphanet:79219", "UMLS:C5681275", "icd11.foundation:946446904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019254", "name": "Inborn disorder of purine or pyrimidine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn purine-pyrimidine metabolic disorder"], "xref": ["DOID:653", "GARD:0018980", "ICD9:277.2", "MEDGEN:48263", "MESH:D011686", "MedDRA:10037546", "Orphanet:79224", "UMLS:C0034139"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.", "id": "MONDO:0019255", "name": "Sphingolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:1927", "GARD:0007672", "MEDGEN:52453", "MESH:D013106", "NCIT:C117254", "Orphanet:79225", "SCTID:238028008", "UMLS:C0037899", "icd11.foundation:1875237176"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.", "id": "MONDO:0019256", "name": "Sterol metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["inborn error of sterol metabolic process", "inborn sterol metabolic process disorder", "rare inborn error of sterol metabolic process"], "xref": ["GARD:0018981", "MEDGEN:1842986", "Orphanet:79226", "UMLS:C5681277"]}
{"category": ["biolink:Disease"], "description": "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.", "id": "MONDO:0019257", "name": "Hemochromatosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Juvenile Hemochromatosis", "juvenile hemochromatosis"], "xref": ["DOID:0111034", "GARD:0010092", "MEDGEN:82769", "MESH:C537247", "NORD:1315", "Orphanet:79230", "SCTID:50855007", "UMLS:C0268060"]}
{"category": ["biolink:Disease"], "description": "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.", "id": "MONDO:0019258", "name": "Mild phenylketonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mPKU", "mild PKU", "variant PKU", "variant phenylketonuria"], "xref": ["GARD:0010324", "MEDGEN:1842357", "Orphanet:79253", "UMLS:C5680203"]}
{"category": ["biolink:Disease"], "description": "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.", "id": "MONDO:0019259", "name": "Classic phenylketonuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["classic PKU"], "xref": ["GARD:0018982", "MEDGEN:199655", "MedDRA:10034875", "Orphanet:79254", "UMLS:C0751434", "icd11.foundation:2084504393"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.", "id": "MONDO:0019260", "name": "Adult neuronal ceroid lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANCL", "Kufs disease", "adult NCL", "adult neuronal ceroid lipofuscinosis", "neuronal ceroid lipofuscinosis of adults"], "xref": ["GARD:0010973", "MEDGEN:7230", "NANDO:1200155", "NANDO:2201244", "NORD:1341", "Orphanet:79262", "SCTID:62009002", "UMLS:C0022797", "icd11.foundation:1460031344"]}
{"category": ["biolink:Disease"], "description": "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.", "id": "MONDO:0019261", "name": "Infantile neuronal ceroid lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Classic Infantile CLN1 Disease", "Hagberg-Santavuori disease", "INCL", "Santavuori disease", "Santavuori-Haltia disease", "infantile NCL"], "xref": ["GARD:0009447", "MEDGEN:75666", "NANDO:1200152", "NANDO:2201241", "NORD:1689", "Orphanet:79263", "SCTID:58258004", "UMLS:C0268281", "icd11.foundation:797123687"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.", "id": "MONDO:0019262", "name": "Batten disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["JNCL", "Spielmeyer-Vogt disease", "batten disease", "juvenile NCL", "juvenile neuronal ceroid lipofuscinosis"], "xref": ["DOID:0050756", "GARD:0004938", "MedDRA:10052073", "NANDO:1200154", "NANDO:2201243", "Orphanet:79264", "SCTID:61663001", "icd11.foundation:1716107919"]}
{"category": ["biolink:Disease"], "description": "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.", "id": "MONDO:0019263", "name": "Autosomal erythropoietic protoporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPP"], "xref": ["GARD:0004527", "MedDRA:10015289", "NANDO:1200815", "Orphanet:79278"]}
{"category": ["biolink:Disease"], "description": "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.", "id": "MONDO:0019264", "name": "Alpha-n-acetylgalactosaminidase deficiency type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["NAGA deficiency type 3", "Schindler disease type 3"], "xref": ["DOID:0112320", "GARD:0003903", "MEDGEN:1772900", "NANDO:1200137", "Orphanet:79281", "SCTID:880066000", "UMLS:C5437471", "icd11.foundation:1639349183"]}
{"category": ["biolink:Disease"], "description": "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.", "id": "MONDO:0019265", "name": "Diazoxide-resistant focal hyperinsulinism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"], "xref": ["GARD:0018983", "MEDGEN:1843436", "Orphanet:79298", "UMLS:C5680204"]}
{"category": ["biolink:Disease"], "description": "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.", "id": "MONDO:0019266", "name": "Sapho syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPHS", "Pustulo-psoriatic hyperostotic Spondyloarthritis", "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome", "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"], "xref": ["DOID:13677", "EFO:1001164", "GARD:0007606", "ICD9:706.1", "MEDGEN:120490", "MESH:D020083", "MedDRA:10051316", "NCIT:C119049", "Orphanet:793", "SCTID:60684003", "UMLS:C0263859", "icd11.foundation:1901494067"]}
{"category": ["biolink:Disease"], "description": "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.", "id": "MONDO:0019267", "name": "Vitamin b12-unresponsive methylmalonic acidemia type mut-", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["partial deficiency of methylmalonyl-CoA mutase", "vitamin B12-unresponsive methylmalonic aciduria type mut-"], "xref": ["GARD:0016714", "MEDGEN:575192", "Orphanet:79312", "SCTID:237946002", "UMLS:C0342719"]}
{"category": ["biolink:Disease"], "description": "A skin disease that involves the epidermis.", "id": "MONDO:0019268", "name": "Epidermal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["epidermal disease", "rare epidermal disease"], "xref": ["MEDGEN:1842776", "Orphanet:79353", "UMLS:C5681492"]}
{"category": ["biolink:Disease"], "description": "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.", "id": "MONDO:0019269", "name": "Ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["DOC", "disorder of cornification", "fish scale disease", "fish skin disease", "ichthyosis", "ichthyosis (disease)"], "xref": ["DOID:1697", "GARD:0018985", "HP:0008064", "MEDGEN:7002", "MESH:D007057", "MedDRA:10021198", "NANDO:1200618", "NCIT:C84776", "Orphanet:79354", "UMLS:C0020757"]}
{"category": ["biolink:Disease"], "description": "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.", "id": "MONDO:0019270", "name": "Erythrokeratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018986", "ICD9:757.39", "MEDGEN:609461", "MedDRA:10015280", "Orphanet:79355", "SCTID:254215005", "UMLS:C0432330"]}
{"category": ["biolink:Disease"], "description": "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0019272", "name": "Hereditary palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary PPK", "hereditary keratosis palmoplantaris", "hereditary palmoplantar hyperkeratosis", "hereditary palmoplantar keratosis"], "xref": ["GARD:0018988", "ICD9:757.39", "MEDGEN:590657", "Orphanet:79357", "SCTID:239066003", "UMLS:C0406757", "icd11.foundation:1941547119"]}
{"category": ["biolink:Disease"], "description": "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.", "id": "MONDO:0019276", "name": "Inherited epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["epidermolysis bullosa hereditaria", "hereditary epidermolysis bullosa"], "xref": ["GARD:0018992", "ICD9:757.39", "MEDGEN:697573", "Orphanet:79361", "SCTID:402781004", "UMLS:C1274224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019278", "name": "Hair anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:539624", "Orphanet:79363", "UMLS:C0265991"]}
{"category": ["biolink:Disease"], "description": "Excessive hair growth anywhere on the body.", "id": "MONDO:0019280", "name": "Hypertrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["hypertrichosis", "hypertrichosis (disease)"], "xref": ["DOID:420", "HP:0000998", "ICD10WHO:L68", "MEDGEN:43787", "MESH:D006983", "MedDRA:10020864", "Orphanet:79365", "SCTID:29966009", "UMLS:C0020555", "icd11.foundation:2042627850"]}
{"category": ["biolink:Disease"], "description": "A epidermal appendage anomaly that involves the nail.", "id": "MONDO:0019283", "name": "Nail anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["epidermal appendage anomaly of nail", "nail epidermal appendage anomaly"], "xref": ["MEDGEN:539627", "MedDRA:10028684", "Orphanet:79368", "UMLS:C0265997"]}
{"category": ["biolink:Disease"], "description": "A nail anomaly that is not part of a larger syndrome.", "id": "MONDO:0019284", "name": "Inherited isolated nail anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["nail disorder, nonsyndromic congenital", "nonsyndromic nail anomaly"], "xref": ["DOID:0080683", "GARD:0019000", "MEDGEN:1843192", "OMIMPS:161050", "Orphanet:79369", "UMLS:C5681477"]}
{"category": ["biolink:Disease"], "description": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.", "id": "MONDO:0019287", "name": "Ectodermal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia", "ectodermal dysplasia (select examples)"], "xref": ["DOID:2121", "GARD:0006317", "ICD9:757.31", "MEDGEN:8544", "MESH:D004476", "MedDRA:10010452", "NCIT:C84683", "OMIMPS:305100", "Orphanet:79373", "SCTID:8654005", "UMLS:C0013575", "icd11.foundation:1156567558"]}
{"category": ["biolink:Disease"], "description": "A pigmentation disease that involves the zone of skin.", "id": "MONDO:0019288", "name": "Skin pigmentation disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["pigmentation anomaly of the skin", "pigmentation disease of zone of skin", "zone of skin pigmentation disease"], "xref": ["DOID:10123", "ICD9:709.09", "MEDGEN:316465", "MESH:D010859", "NCIT:C34557", "Orphanet:79374", "UMLS:C1704421"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019289", "name": "Hyperpigmentation of the skin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["HP:0000953", "ICD9:709.09", "MEDGEN:57992", "Orphanet:79375", "SCTID:49765009", "UMLS:C0162834"]}
{"category": ["biolink:Disease"], "description": "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.", "id": "MONDO:0019290", "name": "Hypopigmentation of the skin", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["hypopigmentation of the skin", "hypopigmentation of the skin (disease)"], "xref": ["HP:0001010", "MEDGEN:102477", "MESH:D017496", "MedDRA:10040868", "Orphanet:79376", "UMLS:C0162835"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the superficial vasculature.", "id": "MONDO:0019293", "name": "Skin vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["skin vascular disorder", "superficial vasculature disease", "vascular disease of the skin", "vascular skin disease", "vasculature skin disease"], "xref": ["DOID:9540", "ICD9:709.1", "MEDGEN:102473", "MESH:D017445", "MedDRA:10062171", "NCIT:C35254", "Orphanet:79379", "SCTID:11263005", "UMLS:C0162819"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019294", "name": "Mixed dermis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1842502", "Orphanet:79380", "UMLS:C5681484"]}
{"category": ["biolink:Disease"], "description": "A disease involving the superficial fascia.", "id": "MONDO:0019296", "name": "Subcutaneous tissue disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of superficial fascia", "disease or disorder of superficial fascia", "disorder of superficial fascia", "superficial fascia disease", "superficial fascia disease or disorder"], "xref": ["MEDGEN:712397", "Orphanet:79382", "UMLS:C1290008"]}
{"category": ["biolink:Disease"], "description": "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.", "id": "MONDO:0019297", "name": "Lymphedema", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lymphatic edema (morphologic abnormality)", "lymphatic oedema", "lymphatic oedema (morphologic abnormality)"], "xref": ["DOID:4977", "ICD9:457.1", "MEDGEN:6155", "MESH:D008209", "MedDRA:10025282", "NCIT:C3207", "Orphanet:79383", "SCTID:234097001", "UMLS:C0024236"]}
{"category": ["biolink:Disease"], "description": "Changes in the organism associated with senescence, occurring at an accelerated rate.", "id": "MONDO:0019303", "name": "Premature aging syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019017", "MEDGEN:65416", "MESH:D019588", "MedDRA:10063493", "Orphanet:79389", "UMLS:C0231341"]}
{"category": ["biolink:Disease"], "description": "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.", "id": "MONDO:0019306", "name": "Congenital non-bullous ichthyosiform erythroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CIE", "alligator skin", "congenital ichthyosiform erythroderma", "congenital ichthyosiform erythroderma (disease)", "congenital non bullous ichthyosiform erythroderma", "erythrodermic ichthyosis", "ichthyosiform erythroderma", "non-bullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosiform erythroderma"], "xref": ["DOID:1699", "GARD:0009736", "HP:0007431", "MEDGEN:38180", "NANDO:1200616", "NANDO:1200617", "Orphanet:79394", "SCTID:205550003", "UMLS:C0079154", "icd11.foundation:546439698"]}
{"category": ["biolink:Disease"], "description": "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.", "id": "MONDO:0019307", "name": "Generalized junctional epidermolysis bullosa non-herlitz type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JEB, generalised intermediate", "JEB, generalized intermediate", "generalised atrophic benign epidermolysis bullosa", "generalised junctional epidermolysis bullosa, non-Herlitz type", "generalized atrophic benign epidermolysis bullosa", "generalized junctional epidermolysis bullosa, non-Herlitz type", "junctional epidermolysis bullosa generalisata mitis", "junctional epidermolysis bullosa, Disentis type"], "xref": ["DOID:0060738", "GARD:0012922", "MEDGEN:609458", "Orphanet:79402", "SCTID:724225008", "UMLS:C0432326"]}
{"category": ["biolink:Disease"], "description": "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.", "id": "MONDO:0019308", "name": "Junctional epidermolysis bullosa inversa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EBJ-I", "JEB-I", "inverse JEB"], "xref": ["GARD:0002143", "MEDGEN:382142", "Orphanet:79405", "UMLS:C2673609", "icd11.foundation:1191822552"]}
{"category": ["biolink:Disease"], "description": "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.", "id": "MONDO:0019309", "name": "Late-onset junctional epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EB progressive", "JEB-lo"], "xref": ["GARD:0012921", "MEDGEN:930393", "Orphanet:79406", "SCTID:719432000", "UMLS:C4304724"]}
{"category": ["biolink:Disease"], "description": "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.", "id": "MONDO:0019310", "name": "Recessive dystrophic epidermolysis bullosa inversa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RDEB-I", "dystrophic epidermolysis bullosa inversa", "inverse RDEB", "inverse recessive dystrophic epidermolysis bullosa"], "xref": ["GARD:0016720", "MEDGEN:698413", "Orphanet:79409", "UMLS:C1275113", "icd11.foundation:495465277"]}
{"category": ["biolink:Disease"], "description": "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.", "id": "MONDO:0019311", "name": "Wooly hair nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["wooly hair nevus"], "xref": ["GARD:0013025", "MEDGEN:575391", "Orphanet:79414", "SCTID:239124001", "UMLS:C0343114"]}
{"category": ["biolink:Disease"], "description": "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.", "id": "MONDO:0019312", "name": "Hermansky-pudlak syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPS"], "xref": ["DOID:3753", "GARD:0006643", "ICD10CM:E70.331", "ICD9:270.2", "MEDGEN:36313", "MESH:D022861", "MedDRA:10071775", "NANDO:1200638", "NCIT:C37261", "NORD:1918", "OMIMPS:203300", "Orphanet:79430", "SCTID:9311003", "UMLS:C0079504", "icd11.foundation:2089801290"]}
{"category": ["biolink:Disease"], "description": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.", "id": "MONDO:0019313", "name": "Lymphatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary lymphedema", "lymphedema, hereditary"], "xref": ["DOID:0050580", "GARD:0013057", "ICD10CM:Q82.0", "ICD9:757.0", "MEDGEN:140763", "OMIMPS:153100", "SCTID:254199006", "UMLS:C0398368"]}
{"category": ["biolink:Disease"], "description": "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.", "id": "MONDO:0019314", "name": "Cutaneous mastocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cutaneous local mastocytoma", "multiple mastocytoma", "solitary mastocytoma"], "xref": ["GARD:0012687", "MEDGEN:83357", "Orphanet:79455", "UMLS:C0343115", "icd11.foundation:1853236564"]}
{"category": ["biolink:Disease"], "description": "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).", "id": "MONDO:0019315", "name": "Diffuse cutaneous mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diffuse cutaneous maculopapulous mastocytosis", "diffuse cutaneous mastocytosis"], "xref": ["DOID:3665", "GARD:0012686", "ICDO:9740/1", "MEDGEN:44303", "MedDRA:10012812", "NCIT:C3218", "Orphanet:79456", "UMLS:C0024901", "icd11.foundation:193128939"]}
{"category": ["biolink:Disease"], "description": "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.", "id": "MONDO:0019316", "name": "Maculopapular cutaneous mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UP/MPCM", "urticaria pigmentosa", "urticaria pigmentosa/maculopapular cutaneous mastocytosis"], "xref": ["DOID:12309", "EFO:1001229", "GARD:0016723", "ICD9:708.8", "ICDO:9740/1", "MEDGEN:22588", "MedDRA:10046752", "NCIT:C3433", "Orphanet:79457", "SCTID:78745000", "UMLS:C0042111", "icd11.foundation:245322245"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019317", "name": "Follicular atrophoderma-basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025135", "Orphanet:79459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019318", "name": "Inflammatory linear verrucous epidermal nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ILVEN"], "xref": ["GARD:0005484", "MEDGEN:96878", "Orphanet:79466", "SCTID:399995006", "UMLS:C0473574"]}
{"category": ["biolink:Disease"], "description": "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.", "id": "MONDO:0019319", "name": "Verrucous nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["verrucous Epidermal Nevus"], "xref": ["GARD:0019020", "MEDGEN:83927", "NCIT:C4674", "Orphanet:79467", "SCTID:398723007", "UMLS:C0362030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019320", "name": "Acanthokeratolytic verrucous nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0005485", "MEDGEN:1826155", "Orphanet:79468", "UMLS:C5681486"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.", "id": "MONDO:0019321", "name": "Atypical werner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["atypical progeroid syndrome"], "xref": ["GARD:0011910", "MEDGEN:894770", "Orphanet:79474", "SCTID:715633008", "UMLS:C4275075", "icd11.foundation:1661142154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019322", "name": "Pemphigus vegetans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["EFO:0008613", "GARD:0019021", "ICD10CM:L10.1", "MEDGEN:537814", "MedDRA:10057053", "NANDO:1200232", "Orphanet:79479", "SCTID:81285006", "UMLS:C0263316", "icd11.foundation:1977394957"]}
{"category": ["biolink:Disease"], "description": "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.", "id": "MONDO:0019323", "name": "Pemphigus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Senear-Usher syndrome", "seborrheic pemphigus"], "xref": ["EFO:0008603", "GARD:0019022", "ICD10CM:L10.4", "MEDGEN:537812", "MedDRA:10058917", "NANDO:1200233", "Orphanet:79480", "SCTID:36739006", "UMLS:C0263312", "icd11.foundation:399813106"]}
{"category": ["biolink:Disease"], "description": "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.", "id": "MONDO:0019324", "name": "Pemphigus foliaceus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080850", "EFO:0008601", "GARD:0007354", "HGNC:3050", "MEDGEN:75513", "MedDRA:10057069", "NANDO:1200230", "Orphanet:79481", "SCTID:35154004", "UMLS:C0263313", "icd11.foundation:24246260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019325", "name": "Phakomatosis cesioflammea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["phakomatosis pigmentovascularis type 2"], "xref": ["GARD:0019023", "ICD9:759.6", "MEDGEN:824729", "Orphanet:79483", "SCTID:703284009", "UMLS:C3838883"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019326", "name": "Phakomatosis cesiomarmorata", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["phakomatosis caesiomarmorata", "phakomatosis cesiomarmorata", "phakomatosis pigmentovascularis type 5"], "xref": ["GARD:0019024", "ICD9:759.6", "MEDGEN:825141", "Orphanet:79484", "SCTID:703286006", "UMLS:C3839296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019327", "name": "Phakomatosis spilorosea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["phakomatosis pigmentovascularis type 3"], "xref": ["GARD:0019025", "ICD9:759.6", "MEDGEN:825608", "Orphanet:79485", "SCTID:703285005", "UMLS:C3839763", "icd11.foundation:1064958823"]}
{"category": ["biolink:Disease"], "description": "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.", "id": "MONDO:0019328", "name": "Macrocystic lymphatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cavernous lymphangioma", "cavernous lymphatic malformation", "macrocystic lymphangioma"], "xref": ["GARD:0006010", "MEDGEN:104729", "NANDO:1200881", "NCIT:C53316", "Orphanet:79489", "UMLS:C0205828", "icd11.foundation:1525487462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019329", "name": "Microcystic lymphatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["capillary lymphatic malformation", "cutaneous lymphangioma circumscriptum", "microcystic infiltrating lymphatic malformation", "microcystic lymphangioma", "superficial lymphangioma", "superficial lymphatic malformation"], "xref": ["GARD:0013020", "MEDGEN:1843242", "NCIT:C45485", "Orphanet:79490", "UMLS:C4738056", "icd11.foundation:1796778763"]}
{"category": ["biolink:Disease"], "description": "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.", "id": "MONDO:0019330", "name": "Pili gemini", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["pili multigemini"], "xref": ["GARD:0019026", "ICD9:704.8", "MEDGEN:42460", "MESH:C537188", "Orphanet:79492", "SCTID:42829009", "UMLS:C0019571"]}
{"category": ["biolink:Disease"], "description": "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..", "id": "MONDO:0019332", "name": "Punctate palmoplantar keratoderma type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Buschke-Fischer-Brauer syndrome", "PPKP1", "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type"], "xref": ["GARD:0003103", "MEDGEN:372099", "Orphanet:79501", "SCTID:717184007", "UMLS:C1835662"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019333", "name": "Autosomal recessive hyperinsulinism due to sur1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"], "xref": ["GARD:0016726", "MEDGEN:1683144", "Orphanet:79643", "UMLS:C5191077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019334", "name": "Autosomal recessive hyperinsulinism due to kir6.2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"], "xref": ["GARD:0016727", "MEDGEN:1677653", "Orphanet:79644", "UMLS:C5191078"]}
{"category": ["biolink:Disease"], "description": "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.", "id": "MONDO:0019335", "name": "Mild hyperphenylalaninemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["mHPA", "mild HPA", "non-PKU HPA"], "xref": ["GARD:0019027", "MEDGEN:1843033", "Orphanet:79651", "UMLS:C5680207"]}
{"category": ["biolink:Disease"], "description": "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.", "id": "MONDO:0019336", "name": "Gardner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Gardner syndrome", "Gardner's syndrome"], "xref": ["GARD:0006482", "ICD9:759.89", "MEDGEN:6547", "MESH:D005736", "MedDRA:10017727", "NCIT:C6728", "Orphanet:79665", "SCTID:60876000", "UMLS:C0017097", "icd11.foundation:1428130769"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease characterized by blisters on the skin.", "id": "MONDO:0019337", "name": "Autoimmune bullous skin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:8502", "EFO:0008598", "GARD:0019028", "ICD9:694.8", "ICD9:694.9", "MEDGEN:1842418", "Orphanet:79669", "SCTID:7231009", "UMLS:C5681494"]}
{"category": ["biolink:Disease"], "description": "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.", "id": "MONDO:0019338", "name": "Sarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Besnier-Boeck-Schaumann disease", "Boeck sarcoid", "Boeck's sarcoid", "Boeck's sarcoidosis", "Darier-Roussy sarcoid", "besnier-Boeck-Schaumann syndrome", "sarcoid", "sarcoidosis"], "xref": ["DOID:11335", "GARD:0007607", "ICD10CM:D86", "ICD10WHO:D86", "MEDGEN:48554", "MESH:D012507", "MedDRA:10039486", "NANDO:1200415", "NCIT:C34995", "NORD:1690", "Orphanet:797", "SCTID:31541009", "UMLS:C0036202", "icd11.foundation:330792642"]}
{"category": ["biolink:Disease"], "description": "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.", "id": "MONDO:0019339", "name": "47,xyy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["47,XYY", "47,XYY syndrome", "Double Y", "Double Y syndrome", "XYY Syndrome", "XYY karyotype", "XYY syndrome", "Y disomy", "disomy Y"], "xref": ["GARD:0005674", "MEDGEN:473794", "MESH:C535317", "MedDRA:10056894", "NCIT:C85237", "NORD:1871", "Orphanet:8", "SCTID:50749006", "UMLS:C3266843"]}
{"category": ["biolink:Disease"], "description": "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).", "id": "MONDO:0019340", "name": "Scleroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["scleroderma", "scleroderma (disease)"], "xref": ["DOID:419", "EFO:1001993", "GARD:0018705", "HP:0100324", "MEDGEN:3770", "MedDRA:10039710", "NCIT:C26746", "Orphanet:801", "UMLS:C0011644"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance.", "id": "MONDO:0019342", "name": "Seckel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCKL", "Seckel-type Dwarfism", "bird-headed dwarfism", "nanocephalic Dwarfism"], "xref": ["DOID:0050569", "GARD:0008562", "ICD9:759.89", "MEDGEN:78534", "NCIT:C125488", "NORD:1701", "OMIMPS:210600", "Orphanet:808", "SCTID:57917004", "UMLS:C0265202", "icd11.foundation:952199295"]}
{"category": ["biolink:Disease"], "description": "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).", "id": "MONDO:0019344", "name": "Antisynthetase syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AS syndrome", "anti-Jo1 syndrome"], "xref": ["DOID:0080744", "EFO:1001982", "GARD:0000735", "ICD9:279.49", "MEDGEN:1866768", "MESH:C537778", "MedDRA:10068801", "NORD:1926", "Orphanet:81", "SCTID:445187004", "UMLS:C5959873", "icd11.foundation:1572057936"]}
{"category": ["biolink:Disease"], "description": "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.", "id": "MONDO:0019345", "name": "Shigellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["shigellosis"], "xref": ["DOID:12385", "EFO:0005585", "GARD:0004818", "ICD10CM:A03", "ICD10WHO:A03", "ICD9:004", "ICD9:004.0", "ICD9:004.1", "ICD9:004.2", "ICD9:004.3", "ICD9:004.9", "MEDGEN:8513", "MESH:D004405", "MedDRA:10017915", "MedDRA:10054178", "NCIT:C157978", "Orphanet:810", "SCTID:36188001", "UMLS:C0013371", "icd11.foundation:2080365623"]}
{"category": ["biolink:Disease"], "description": "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.", "id": "MONDO:0019346", "name": "Sialidosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Normomorphic sialidosis", "cherry-red spot-myoclonus syndrome", "lipomucopolysaccharidosis", "normosomatic sialidosis"], "xref": ["GARD:0007639", "MEDGEN:44174", "NANDO:1200117", "NANDO:2201191", "Orphanet:812", "SCTID:34960006", "SCTID:723675006", "UMLS:C0023806", "icd11.foundation:1154773192"]}
{"category": ["biolink:Disease"], "description": "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.", "id": "MONDO:0019347", "name": "Peeling skin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PSS", "deciduous skin", "familial continuous skin peeling syndrome", "idiopathic deciduous skin", "keratosis exfoliativa congenita", "peeling skin disease"], "xref": ["DOID:0060283", "GARD:0007347", "ICD9:757.39", "MEDGEN:336530", "NORD:1562", "OMIMPS:270300", "Orphanet:817", "SCTID:239065004", "UMLS:C1849193", "icd11.foundation:523640904"]}
{"category": ["biolink:Disease"], "description": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.", "id": "MONDO:0019349", "name": "Sotos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NSD1 Sotos syndrome", "Sotos syndrome", "Sotos syndrome 1", "Sotos syndrome caused by mutation in NSD1", "Sotos syndrome type 1", "Sotos' syndrome", "cerebral gigantism", "cerebral gigantism syndrome", "chromosome 5q35 deletion syndrome"], "xref": ["DECIPHER:17", "DOID:0112103", "DOID:14748", "GARD:0010091", "MEDGEN:61232", "MESH:D058495", "MedDRA:10064387", "NANDO:1200679", "NANDO:2200953", "NCIT:C75019", "NORD:1727", "OMIM:117550", "OMIMPS:117550", "Orphanet:821", "SCTID:75968004", "UMLS:C0175695", "icd11.foundation:1887392960"]}
{"category": ["biolink:Disease"], "description": "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.", "id": "MONDO:0019350", "name": "Hereditary spherocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Minkowski-Chauffard disease", "congenital spherocytic hemolytic anaemia", "hereditary spherocytosis", "spherocytic anaemia"], "xref": ["DOID:12971", "GARD:0006639", "ICD10CM:D58.0", "ICD9:282.0", "MEDGEN:52450", "MESH:D013103", "MedDRA:10019904", "NANDO:2200622", "NCIT:C97074", "NORD:777", "Orphanet:822", "SCTID:55995005", "UMLS:C0037889", "icd11.foundation:1305248013"]}
{"category": ["biolink:Disease"], "description": "A spina bifida (disease) that is not part of a larger syndrome.", "id": "MONDO:0019351", "name": "Isolated spina bifida", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["isolated spina bifida (disease)", "nonsyndromic spina bifida (disease)"], "xref": ["GARD:0007673", "MedDRA:10041524", "Orphanet:823"]}
{"category": ["biolink:Disease"], "description": "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.", "id": "MONDO:0019353", "name": "Stargardt disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stargardt 1", "fundus flavimaculatus"], "xref": ["DOID:0050817", "GARD:0000181", "MEDGEN:75734", "MESH:D000080362", "MedDRA:10062766", "NANDO:1200933", "NCIT:C85078", "OMIMPS:248200", "Orphanet:827", "SCTID:47673003", "UMLS:C0271093", "icd11.foundation:1690038580"]}
{"category": ["biolink:Disease"], "description": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).", "id": "MONDO:0019354", "name": "Stickler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Stickler syndrome", "hereditary progressive arthroophthalmopathy"], "xref": ["DOID:0080046", "GARD:0010782", "ICD9:759.89", "MEDGEN:120521", "MedDRA:10063402", "NCIT:C74984", "NORD:1739", "OMIMPS:108300", "Orphanet:828", "SCTID:78675000", "UMLS:C0265253", "icd11.foundation:246271691"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.", "id": "MONDO:0019355", "name": "Adult-onset still disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AOSD", "Adult-Onset Still's Disease", "Wissler-Fanconi syndrome", "adult-onset Still disease", "adult-onset Still's disease"], "xref": ["DOID:14256", "EFO:0007135", "GARD:0000436", "ICD10CM:M06.1", "ICD9:714.2", "ICD9:759.89", "MEDGEN:39007", "MESH:D016706", "MedDRA:10058493", "MedDRA:10064056", "NANDO:1200282", "NORD:737", "Orphanet:829", "SCTID:239920006", "SCTID:68190001", "UMLS:C0085253", "icd11.foundation:549009522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019356", "name": "Urogenital tract malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019029", "ICD10CM:Q60-Q64", "MEDGEN:52948", "Orphanet:83001", "UMLS:C0042063"]}
{"category": ["biolink:Disease"], "description": "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter 14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.", "id": "MONDO:0019357", "name": "Congenital narrowing of cervical spinal canal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital stenosis of the cervical spine"], "xref": ["GARD:0018706", "MEDGEN:1653635", "Orphanet:831", "UMLS:C4749275"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.", "id": "MONDO:0019358", "name": "Encephalopathy due to sulfite oxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016549", "MEDGEN:894927", "Orphanet:833", "SCTID:715980003", "UMLS:C4275019", "icd11.foundation:681037681"]}
{"category": ["biolink:Disease"], "description": "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).", "id": "MONDO:0019359", "name": "Rocky mountain spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0050052", "GARD:0007585", "ICD10CM:A77.0", "MEDGEN:48500", "MESH:D012373", "MedDRA:10039207", "NCIT:C128410", "NORD:1674", "Orphanet:83311", "SCTID:186772009", "UMLS:C0035793", "icd11.foundation:215936800"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019360", "name": "Rickettsialpox", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["vesicular rickettsiosis"], "xref": ["DOID:11103", "GARD:0019030", "ICD10CM:A79.1", "ICD9:083.2", "MEDGEN:19803", "MedDRA:10039137", "Orphanet:83312", "SCTID:75096007", "UMLS:C0035597", "icd11.foundation:1005140361"]}
{"category": ["biolink:Disease"], "description": "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.", "id": "MONDO:0019362", "name": "Epidemic louse-borne typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidemic louse-borne typhus", "epidemic typhus", "epidemic typhus fever"], "xref": ["DOID:0050480", "GARD:0019032", "MEDGEN:21744", "MedDRA:10014979", "NCIT:C84689", "Orphanet:83314", "UMLS:C0041473", "icd11.foundation:295798687"]}
{"category": ["biolink:Disease"], "description": "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.", "id": "MONDO:0019364", "name": "Pseudotyphus of california", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019034", "MEDGEN:1643522", "Orphanet:83316", "SCTID:764104003", "UMLS:C4706680"]}
{"category": ["biolink:Disease"], "description": "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.", "id": "MONDO:0019365", "name": "Scrub typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Japanese river fever", "Kedani fever", "scrub mite-borne typhus", "tsutsugamushi", "tsutsugamushi disease", "tsutsugamushi fever"], "xref": ["DOID:13371", "EFO:0007480", "GARD:0019035", "ICD10CM:A75.3", "ICD9:081.2", "MEDGEN:48591", "MESH:D012612", "MedDRA:10039766", "Orphanet:83317", "SCTID:271425001", "UMLS:C0036472", "icd11.foundation:1695340384"]}
{"category": ["biolink:Disease"], "description": "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).", "id": "MONDO:0019366", "name": "Free sialic acid storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["free sialic acid storage disease"], "xref": ["GARD:0010870", "MEDGEN:419512", "MESH:C538523", "MedDRA:10067529", "MedDRA:10067531", "NANDO:1200146", "NANDO:2200572", "Orphanet:834", "SCTID:278991002", "UMLS:C2931872", "icd11.foundation:1817428569"]}
{"category": ["biolink:Disease"], "description": "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.", "id": "MONDO:0019367", "name": "Regional odontodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ghost teeth"], "xref": ["GARD:0019036", "MEDGEN:104891", "MESH:D018126", "Orphanet:83450", "SCTID:66063001", "UMLS:C0206554", "icd11.foundation:1516505714"]}
{"category": ["biolink:Disease"], "description": "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.", "id": "MONDO:0019368", "name": "Florid cemento-osseous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["florid osseous dysplasia", "focal cemento-osseous dysplasia"], "xref": ["GARD:0010173", "ICDO:9275/0", "MEDGEN:107519", "MESH:C537063", "NCIT:C8381", "Orphanet:83451", "SCTID:715634002", "UMLS:C0555197", "icd11.foundation:2031259585"]}
{"category": ["biolink:Disease"], "description": "A chronic pain syndrome characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.", "id": "MONDO:0019369", "name": "Complex regional pain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CRPS", "algoneurodystrophy"], "xref": ["DOID:14022", "DOID:3223", "EFO:1001998", "GARD:0004647", "ICD10CM:M89.0", "MEDGEN:96846", "MESH:D020918", "MedDRA:10064332", "NORD:1652", "Orphanet:83452", "SCTID:128200000", "UMLS:C0458219", "icd11.foundation:1834504950"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019370", "name": "Vulvovaginal gingival syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019037", "MEDGEN:848586", "Orphanet:83453", "SCTID:707250009", "UMLS:C3873472", "icd11.foundation:997964040"]}
{"category": ["biolink:Disease"], "description": "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.", "id": "MONDO:0019371", "name": "Narcolepsy without cataplexy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["narcolepsy type 2"], "xref": ["EFO:0005855", "GARD:0019038", "ICD10CM:G47.419", "ICD9:347.00", "MEDGEN:781102", "Orphanet:83465", "SCTID:91521000119104", "UMLS:C1456240", "icd11.foundation:1494673323"]}
{"category": ["biolink:Disease"], "description": "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.", "id": "MONDO:0019372", "name": "Solitary bone cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bone cyst", "cyst of bone", "cyst of the bone", "simple bone cyst", "solitary cyst", "unicameral bone cyst"], "xref": ["GARD:0019039", "ICD10CM:M85.4", "ICD9:733.21", "MEDGEN:2696", "MESH:D001845", "NCIT:C2904", "Orphanet:83468", "SCTID:203467005", "UMLS:C0005937", "icd11.foundation:987501456"]}
{"category": ["biolink:Disease"], "description": "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.", "id": "MONDO:0019373", "name": "Desmoplastic small round cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DSRCT", "Desmoplas. small round cell tumor", "Desmoplas. small round cell tumour", "Desmoplastic small round cell tumor", "Desmoplastic small round cell tumour", "Desmoplastic small round-cell neoplasm", "Desmoplastic small round-cell tumor", "Desmoplastic small round-cell tumour", "Polyphenotypic small round cell tumor", "Polyphenotypic small round cell tumour", "desmoplastic small round cell tumor"], "xref": ["DOID:6785", "EFO:1000895", "GARD:0006265", "HGNC:12796", "ICDO:8806/3", "MEDGEN:83833", "MESH:D058405", "MedDRA:10064581", "MedDRA:10064587", "NANDO:2200059", "NCIT:C8300", "ONCOTREE:DSRCT", "Orphanet:83469", "UMLS:C0281508"]}
{"category": ["biolink:Disease"], "description": "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.", "id": "MONDO:0019374", "name": "Camos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAR5", "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome"], "xref": ["GARD:0009977", "MEDGEN:1387501", "OMIM:606937", "Orphanet:83472", "SCTID:726031001", "UMLS:C4511633"]}
{"category": ["biolink:Disease"], "description": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.", "id": "MONDO:0019375", "name": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPPH syndrome"], "xref": ["GARD:0010341", "MEDGEN:355095", "OMIMPS:603387", "Orphanet:83473", "SCTID:722036008", "UMLS:C1863924"]}
{"category": ["biolink:Disease"], "description": "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.", "id": "MONDO:0019376", "name": "West-nile encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["West Nile Encephalitis", "West Nile encephalitis", "West Nile fever with encephalitis", "West Nile virus caused infectious encephalitis", "West Nile virus infectious encephalitis", "West-Nile fever"], "xref": ["DOID:2365", "EFO:0007545", "GARD:0009959", "ICD10CM:A92.31", "ICD9:066.41", "MEDGEN:155889", "NORD:1847", "Orphanet:83476", "SCTID:392662004", "UMLS:C0751583"]}
{"category": ["biolink:Disease"], "description": "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).", "id": "MONDO:0019377", "name": "Mycoplasma encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mycoplasma pneumoniae caused infectious encephalitis", "Mycoplasma pneumoniae infectious encephalitis"], "xref": ["GARD:0019040", "MEDGEN:1636101", "Orphanet:83482", "UMLS:C4707240"]}
{"category": ["biolink:Disease"], "description": "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.", "id": "MONDO:0019378", "name": "La crosse encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Californian encephalitis", "La Crosse virus caused infectious encephalitis", "La Crosse virus infectious encephalitis"], "xref": ["DOID:0050118", "GARD:0010925", "ICD9:062.5", "MEDGEN:547309", "MESH:D004670", "MedDRA:10014584", "Orphanet:83483", "SCTID:61094002", "UMLS:C0276379", "icd11.foundation:1501615629"]}
{"category": ["biolink:Disease"], "description": "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.", "id": "MONDO:0019380", "name": "Western equine encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Western equine encephalitis virus caused infectious encephalitis", "Western equine encephalitis virus infectious encephalitis", "Western equine encephalomyelitis"], "xref": ["DOID:10843", "EFO:0007546", "GARD:0007888", "ICD10CM:A83.1", "ICD9:062.1", "MEDGEN:57778", "MESH:D020241", "MedDRA:10014614", "NCIT:C85227", "Orphanet:83593", "SCTID:47523006", "UMLS:C0153064", "icd11.foundation:1543765035"]}
{"category": ["biolink:Disease"], "description": "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.", "id": "MONDO:0019383", "name": "Acute disseminated encephalomyelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADEM", "acute disseminated encephalitis", "acute disseminated encephalomyelitis", "post-infectious encephalomyelitis"], "xref": ["DOID:639", "EFO:0007130", "GARD:0008639", "ICD9:136.9", "MEDGEN:4033", "MESH:D004673", "NCIT:C34578", "NORD:727", "Orphanet:83597", "SCTID:83942000", "UMLS:C0014059", "icd11.foundation:1390433308"]}
{"category": ["biolink:Disease"], "description": "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.", "id": "MONDO:0019384", "name": "Encephalitis lethargica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:historic_epidemic", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Von Economo encephalitis", "encephalitis lethargica", "epidemic encephalitis", "lethargic encephalitis", "von Economo's disease"], "xref": ["DOID:5225", "GARD:0006332", "ICD9:049.8", "MEDGEN:4028", "MedDRA:10052369", "NCIT:C26761", "NCIT:C34576", "Orphanet:83600", "SCTID:186499007", "UMLS:C0014040", "icd11.foundation:1777779617"]}
{"category": ["biolink:Disease"], "description": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.", "id": "MONDO:0019385", "name": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SREAT"], "xref": ["GARD:0008570", "MEDGEN:98280", "MESH:C535841", "Orphanet:83601", "UMLS:C0393639"]}
{"category": ["biolink:Disease"], "description": "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.", "id": "MONDO:0019386", "name": "Progressive rubella panencephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019043", "MEDGEN:726815", "Orphanet:83616", "SCTID:10082001", "UMLS:C1305924", "Wikipedia:Progressive_rubella_panencephalitis"]}
{"category": ["biolink:Disease"], "description": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.", "id": "MONDO:0019387", "name": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019044", "MEDGEN:1391725", "Orphanet:83619", "UMLS:C4509840"]}
{"category": ["biolink:Disease"], "description": "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.", "id": "MONDO:0019388", "name": "Pelvis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LUMBAR syndrome", "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome", "SACRAL syndrome", "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome", "urorectal septum malformation sequence"], "xref": ["GARD:0019045", "MEDGEN:1374037", "Orphanet:83628", "SCTID:725138002", "UMLS:C4510867", "icd11.foundation:1311821224"]}
{"category": ["biolink:Disease"], "description": "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.", "id": "MONDO:0019390", "name": "Susac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RED-M", "Retinocochleocerebral vasculopathy", "SICRET syndrome", "retinopathy-encephalopathy-deafness associated with microangiopathy", "small infarctions of cochlear, retinal and encephalic tissue"], "xref": ["EFO:1001856", "GARD:0007713", "ICD9:348.39", "MEDGEN:439270", "MESH:D055955", "MedDRA:10071573", "NCIT:C116363", "NORD:1747", "Orphanet:838", "SCTID:702575003", "UMLS:C2717757", "icd11.foundation:1292480458"]}
{"category": ["biolink:Disease"], "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", "id": "MONDO:0019391", "name": "Fanconi anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia", "Panmyelopathy, Fanconi", "pancytopenia, congenital", "primary erythroid hypoplasia"], "xref": ["DOID:13636", "GARD:0006425", "ICD9:284.09", "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", "NANDO:1200891", "NANDO:2200652", "NCIT:C62505", "NORD:1132", "OMIMPS:227650", "Orphanet:84", "SCTID:30575002", "UMLS:C0015625"]}
{"category": ["biolink:Disease"], "description": "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.", "id": "MONDO:0019392", "name": "Syringocystadenoma papilliferum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SCAP", "Syringadenoma", "Syringadenoma papilliferum", "fistulous vegetative verrucous hydradenoma", "naevus syringocystadenomatosus papilliferus", "papillary Syringadenoma", "papillary Syringadenoma (syringocystadenoma papilliferum)", "papillary syringadenoma (morphologic abnormality)", "papillary syringocystadenoma", "syringocystadenoma papilliferum"], "xref": ["DOID:5445", "EFO:1000558", "GARD:0005100", "ICDO:8406/0", "MEDGEN:98362", "MedDRA:10042926", "NCIT:C4172", "Orphanet:840", "SCTID:239121009", "UMLS:C0406803", "icd11.foundation:530424877"]}
{"category": ["biolink:Disease"], "description": "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.", "id": "MONDO:0019393", "name": "Idiopathic malabsorption due to bile acid synthesis defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["idiopathic bile acid malabsorption"], "xref": ["GARD:0019046", "MEDGEN:900722", "Orphanet:84065", "UMLS:C4274509"]}
{"category": ["biolink:Disease"], "description": "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.", "id": "MONDO:0019394", "name": "Senior-boichis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Boichis disease", "nephronophthisis-hepatic fibrosis syndrome"], "xref": ["GARD:0016730", "MEDGEN:902988", "Orphanet:84081", "SCTID:717187000", "UMLS:C4274018"]}
{"category": ["biolink:Disease"], "description": "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.", "id": "MONDO:0019395", "name": "Hinman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HAS", "HS", "Hinman-Allen syndrome", "non-neurogenic neurogenic bladder", "occult neuropathic bladder"], "xref": ["GARD:0019047", "ICD9:596.59", "MEDGEN:744421", "Orphanet:84085", "SCTID:429233001", "UMLS:C1997362"]}
{"category": ["biolink:Disease"], "description": "A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.", "id": "MONDO:0019396", "name": "Collagen type iii glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Collagenofibrotic glomerulopathy"], "xref": ["GARD:0019048", "ICD9:583.89", "MEDGEN:836996", "Orphanet:84087", "SCTID:708127008", "UMLS:C3872695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019397", "name": "Unknown leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:84096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019398", "name": "Desmin-related myopathy with mallory body-like inclusions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["early-onset desmin-related myopathy"], "xref": ["GARD:0016732", "MEDGEN:898925", "Orphanet:84132", "UMLS:C4275073", "icd11.foundation:998522839"]}
{"category": ["biolink:Disease"], "description": "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.", "id": "MONDO:0019399", "name": "Isaac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Isaacs' syndrome", "Quantal squander syndrome", "acquired neuromyotonia", "continuous muscle fiber activity syndrome", "continuous muscle fibre activity syndrome", "neuromyotonia", "peripheral nerve hyperexcitability"], "xref": ["GARD:0006793", "MEDGEN:116151", "NANDO:1200510", "Orphanet:84142", "SCTID:305719002", "UMLS:C0242287", "icd11.foundation:646523932"]}
{"category": ["biolink:Disease"], "description": "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.", "id": "MONDO:0019401", "name": "Sporadic idiopathic steroid-resistant nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_clinical_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["sporadic idiopathic nephrosis"], "xref": ["GARD:0025136", "MEDGEN:897207", "Orphanet:84271", "SCTID:717191005", "UMLS:C4274017"]}
{"category": ["biolink:Disease"], "description": "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).", "id": "MONDO:0019402", "name": "Beta thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:12241", "GARD:0000871", "ICD10CM:D56.1", "ICD9:282.44", "ICD9:282.49", "MEDGEN:2611", "MESH:D017086", "MedDRA:10043391", "NANDO:2201274", "NCIT:C34375", "NORD:1765", "Orphanet:848", "SCTID:65959000", "UMLS:C0005283", "icd11.foundation:2063292324"]}
{"category": ["biolink:Disease"], "description": "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.", "id": "MONDO:0019403", "name": "Congenital dyserythropoietic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CDA", "anemia, congenital dyserythropoietic", "congenital dyshaematopoietic anaemia", "congenital dyshaematopoietic anemia"], "xref": ["DOID:1338", "GARD:0001999", "ICD10CM:D64.4", "ICD9:285.8", "MEDGEN:8064", "MESH:D000742", "NANDO:1200885", "NANDO:2100178", "NANDO:2200615", "NCIT:C84646", "OMIMPS:224120", "Orphanet:85", "SCTID:52951008", "UMLS:C0002876", "icd11.foundation:899830967"]}
{"category": ["biolink:Disease"], "description": "A usually benign perineurioma not associated with a nerve, arising from the soft tissues.", "id": "MONDO:0019404", "name": "Perineurioma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["perineurioma"], "xref": ["DOID:4697", "GARD:0012698", "ICD9:215.9", "ICDO:9571/0", "MEDGEN:199712", "NCIT:C4973", "Orphanet:85102", "SCTID:404036006", "UMLS:C0751691", "icd11.foundation:456459236"]}
{"category": ["biolink:Disease"], "description": "Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.", "id": "MONDO:0019405", "name": "Facial onset sensory and motor neuronopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FOSMN syndrome"], "xref": ["GARD:0012036", "MEDGEN:1374397", "Orphanet:85162", "SCTID:723306004", "UMLS:C4509818"]}
{"category": ["biolink:Disease"], "description": "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.", "id": "MONDO:0019406", "name": "Craniofacial conodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019049", "MEDGEN:929531", "Orphanet:85168", "UMLS:C4303862"]}
{"category": ["biolink:Disease"], "description": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.", "id": "MONDO:0019407", "name": "Microcephalic osteodysplastic dysplasia, saul-wilson type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SWILS", "Saul-Wilson syndrome", "microcephalic osteodysplastic dysplasia", "microcephalic osteodysplastic dysplasia, Saul-Wilson type"], "xref": ["DOID:0111673", "GARD:0016736", "MEDGEN:1375647", "OMIM:618150", "Orphanet:85172", "UMLS:C4509877", "icd11.foundation:738688839"]}
{"category": ["biolink:Disease"], "description": "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.", "id": "MONDO:0019408", "name": "Astley-kendall dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019050", "MEDGEN:224886", "MESH:C535392", "NANDO:2201362", "Orphanet:85175", "SCTID:389263004", "UMLS:C1300228", "icd11.foundation:1367227076"]}
{"category": ["biolink:Disease"], "description": "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.", "id": "MONDO:0019409", "name": "Idiopathic juvenile osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IJO", "Ijo", "Paediatric osteoporosis", "Pediatric osteoporosis", "idiopathic juvenile osteoporosis", "juvenile osteoporosis"], "xref": ["DOID:12559", "GARD:0006760", "ICD9:733.02", "MEDGEN:120494", "MESH:C537700", "NCIT:C119996", "OMIM:259750", "Orphanet:85193", "SCTID:3345002", "UMLS:C0264080", "icd11.foundation:183642011"]}
{"category": ["biolink:Disease"], "description": "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.", "id": "MONDO:0019411", "name": "Genochondromatosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016741", "MEDGEN:1761731", "Orphanet:85197", "UMLS:C5438970", "icd11.foundation:521879469"]}
{"category": ["biolink:Disease"], "description": "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.", "id": "MONDO:0019412", "name": "Dysspondyloenchondromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019051", "MEDGEN:928217", "Orphanet:85198", "SCTID:722434004", "UMLS:C4302548", "icd11.foundation:942697844"]}
{"category": ["biolink:Disease"], "description": "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.", "id": "MONDO:0019413", "name": "Ischio-vertebral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:otar", "mondo:rare"], "synonym": ["ischio-spinal dysostosis", "ischio-vertebral dysplasia"], "xref": ["GARD:0019052", "MEDGEN:903166", "Orphanet:85200", "SCTID:715654001", "UMLS:C4274732", "icd11.foundation:185911418"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).", "id": "MONDO:0019414", "name": "Bresek syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BRESHECK syndrome"], "xref": ["GARD:0016746", "MEDGEN:502868", "MESH:C564519", "Orphanet:85284", "SCTID:717945001", "UMLS:C3502469"]}
{"category": ["biolink:Disease"], "description": "A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.", "id": "MONDO:0019415", "name": "Fetal and neonatal alloimmune thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NAIT"], "xref": ["GARD:0002295", "MEDGEN:1720701", "NANDO:2200647", "NORD:91170", "OMIMPS:621264", "Orphanet:853", "SCTID:240305000", "UMLS:C3854603"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.", "id": "MONDO:0019416", "name": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019053", "MEDGEN:930588", "Orphanet:85317", "UMLS:C4304919"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.", "id": "MONDO:0019417", "name": "X-linked intellectual disability-precocious puberty-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome"], "xref": ["Orphanet:85318"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.", "id": "MONDO:0019418", "name": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019054", "MEDGEN:930586", "Orphanet:85319", "UMLS:C4304917"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome.", "id": "MONDO:0019419", "name": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Johnson syndrome"], "xref": ["GARD:0019055", "MEDGEN:930075", "Orphanet:85320", "SCTID:719825000", "UMLS:C4304406"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.", "id": "MONDO:0019420", "name": "X-linked intellectual disability, pai type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019056", "MEDGEN:930695", "Orphanet:85322", "SCTID:719011002", "UMLS:C4305026"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.", "id": "MONDO:0019421", "name": "X-linked intellectual disability, seemanova type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019057", "MEDGEN:930757", "Orphanet:85323", "SCTID:718897009", "UMLS:C4305088"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.", "id": "MONDO:0019422", "name": "X-linked intellectual disability, stevenson type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019058", "MEDGEN:930746", "Orphanet:85325", "SCTID:718909001", "UMLS:C4305077"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.", "id": "MONDO:0019423", "name": "X-linked intellectual disability, stoll type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019059", "MEDGEN:930744", "Orphanet:85326", "SCTID:718911005", "UMLS:C4305075"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.", "id": "MONDO:0019424", "name": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019060", "MEDGEN:930076", "Orphanet:85327", "UMLS:C4304407"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.", "id": "MONDO:0019426", "name": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:930605", "Orphanet:85330", "UMLS:C4304936"]}
{"category": ["biolink:Disease"], "description": "X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.", "id": "MONDO:0019427", "name": "X-linked neurodegenerative syndrome, bertini type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019061", "MEDGEN:930802", "Orphanet:85334", "SCTID:718849008", "UMLS:C4305133"]}
{"category": ["biolink:Disease"], "description": "A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.", "id": "MONDO:0019428", "name": "Fried syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016753", "MEDGEN:930803", "Orphanet:85335", "SCTID:718848000", "UMLS:C4305134"]}
{"category": ["biolink:Disease"], "description": "An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.", "id": "MONDO:0019429", "name": "X-linked neurodegenerative syndrome, hamel type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019062", "MEDGEN:930804", "Orphanet:85336", "SCTID:718847005", "UMLS:C4305135"]}
{"category": ["biolink:Disease"], "description": "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.", "id": "MONDO:0019430", "name": "X-linked intellectual disability-ataxia-apraxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019063", "MEDGEN:930808", "Orphanet:85338", "UMLS:C4305139"]}
{"category": ["biolink:Disease"], "description": "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.", "id": "MONDO:0019431", "name": "Primitive portal vein thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["non-cirrhotic portal vein thrombosis"], "xref": ["GARD:0018707", "MEDGEN:1876652", "MedDRA:10036206", "Orphanet:854", "UMLS:C6012228"]}
{"category": ["biolink:Disease"], "description": "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.", "id": "MONDO:0019432", "name": "Rheumatoid factor-negative juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["juvenile rheumatoid factor-negative polyarthritis", "polyarthritis without rheumatoid factor", "rheumatoid factor-negative JIA"], "xref": ["EFO:1002020", "GARD:0003931", "MEDGEN:855549", "Orphanet:85408", "UMLS:C3890205"]}
{"category": ["biolink:Disease"], "description": "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.", "id": "MONDO:0019433", "name": "Oligoarticular juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Oligoarticular JIA", "Pauciarticular JIA", "Pauciarticular chronic arthritis", "Pauciarticular juvenile idiopathic arthritis"], "xref": ["EFO:1002019", "GARD:0004261", "MEDGEN:443993", "MESH:C536312", "NANDO:1200471", "NANDO:2201056", "NCIT:C119032", "Orphanet:85410", "UMLS:C2931171", "icd11.foundation:1990556904"]}
{"category": ["biolink:Disease"], "description": "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.", "id": "MONDO:0019434", "name": "Systemic-onset juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SoJIA", "Still disease", "sJIA", "systemic polyarthritis", "systemic-onset JIA"], "xref": ["EFO:1001999", "GARD:0010966", "MEDGEN:346934", "MESH:C565798", "NANDO:1200470", "NANDO:2201055", "NCIT:C119031", "Orphanet:85414", "SCTID:201796004", "UMLS:C1858558", "icd11.foundation:504387587"]}
{"category": ["biolink:Disease"], "description": "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.", "id": "MONDO:0019435", "name": "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["juvenile idiopathic rheumatoid factor-positive polyarthritis", "polyarthritis with rheumatoid factor", "polyarticular JIA, RF+", "polyarticular juvenile idiopathic arthritis, RF+", "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive", "rheumatoid factor-positive polyarticular JIA"], "xref": ["EFO:0009731", "GARD:0019064", "MEDGEN:855737", "NANDO:2201058", "NCIT:C119034", "Orphanet:85435", "UMLS:C3890733"]}
{"category": ["biolink:Disease"], "description": "Childhood arthritis typically associated with psoriasis.", "id": "MONDO:0019436", "name": "Psoriasis-related juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JPsA", "juvenile psoriatic arthritis", "psoriasis-related JIA"], "xref": ["EFO:0009733", "GARD:0010970", "MEDGEN:811463", "NCIT:C114361", "Orphanet:85436", "SCTID:239802003", "UMLS:C3714758", "icd11.foundation:1473955563"]}
{"category": ["biolink:Disease"], "description": "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.", "id": "MONDO:0019437", "name": "Enthesitis-related juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ERA", "enthesitis-related JIA", "era"], "xref": ["EFO:0009732", "GARD:0010969", "MEDGEN:854059", "NANDO:2201060", "NCIT:C119024", "Orphanet:85438", "SCTID:410801005", "UMLS:C3495919", "icd11.foundation:1128255226"]}
{"category": ["biolink:Disease"], "description": "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.", "id": "MONDO:0019438", "name": "Al amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Light-chain amyloidosis", "primary amyloidosis"], "xref": ["DOID:0080933", "GARD:0005797", "MEDGEN:75674", "MESH:C531616", "MedDRA:10036673", "NANDO:1200211", "NCIT:C158963", "Orphanet:85443", "UMLS:C0268381", "icd11.foundation:1061366491", "icd11.foundation:113043090"]}
{"category": ["biolink:Disease"], "description": "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.", "id": "MONDO:0019439", "name": "Aa amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["inflammatory amyloidosis", "reactive amyloidosis", "secondary amyloidosis"], "xref": ["DOID:0080936", "GARD:0010560", "ICD9:277.39", "MEDGEN:782429", "MedDRA:10039811", "NCIT:C3818", "Orphanet:85445", "SCTID:281034005", "UMLS:C3536715", "icd11.foundation:570181034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019440", "name": "Wild type abeta2m amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ABeta2Mwt amyloidosis", "dialysis-related amyloidosis", "dialysis-related arthropathy", "wild type ABeta2-microglobulinic amyloidosis"], "xref": ["GARD:0019065", "MEDGEN:78673", "Orphanet:85446", "SCTID:32599008", "UMLS:C0268405", "icd11.foundation:499046814"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.", "id": "MONDO:0019441", "name": "Attrv122i amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ATTRV122I-related amyloidosis"], "xref": ["GARD:0016755", "MEDGEN:907865", "Orphanet:85451", "SCTID:715655000", "UMLS:C4275067", "icd11.foundation:1449168185"]}
{"category": ["biolink:Disease"], "description": "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.", "id": "MONDO:0019443", "name": "Dextro-looped transposition of the great arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DTGA", "congenitally uncorrected transposition of the great arteries", "congenitally uncorrected transposition of the great vessels", "isolated ventriculoarterial discordance", "ventriculoarterial discordance with atrioventricular concordance"], "xref": ["DOID:0060770", "GARD:0005476", "MEDGEN:758887", "NANDO:1200698", "OMIMPS:608808", "Orphanet:860", "UMLS:C3531771"]}
{"category": ["biolink:Disease"], "description": "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.", "id": "MONDO:0019444", "name": "Trichinellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Trichinella caused disease or disorder", "Trichinella disease or disorder", "Trichinella infectious disease", "trichinosis"], "xref": ["DOID:9784", "GARD:0005250", "ICD10CM:B75", "ICD10WHO:B75", "ICD9:124", "MEDGEN:21645", "MESH:D014235", "MedDRA:10044608", "NCIT:C85199", "Orphanet:863", "SCTID:709018004", "UMLS:C0040896", "icd11.foundation:284613639"]}
{"category": ["biolink:Disease"], "description": "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.", "id": "MONDO:0019445", "name": "Trichofolliculoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005263", "ICDO:8101/0", "MEDGEN:87202", "MESH:C536553", "MedDRA:10044611", "NCIT:C4112", "Orphanet:864", "SCTID:274899008", "UMLS:C0334262"]}
{"category": ["biolink:Disease"], "description": "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.", "id": "MONDO:0019446", "name": "Localized lichen myxedematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["papular mucinosis"], "xref": ["GARD:0007321", "MEDGEN:1802421", "Orphanet:86795", "UMLS:C5575846", "icd11.foundation:15830032"]}
{"category": ["biolink:Disease"], "description": "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.", "id": "MONDO:0019447", "name": "Atypical lichen myxedematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Intermediate lichen myxedematosus"], "xref": ["GARD:0019066", "MEDGEN:1383234", "Orphanet:86797", "SCTID:725148000", "UMLS:C4510874"]}
{"category": ["biolink:Disease"], "description": "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.", "id": "MONDO:0019448", "name": "Benign adult familial myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADCME", "BAFME", "FAME", "FCMTE", "autosomal dominant cortical myoclonus and epilepsy", "benign adult familial myoclonus epilepsy", "familial adult myoclonic epilepsy", "familial cortical myoclonic tremor and epilepsy"], "xref": ["GARD:0016758", "MEDGEN:908684", "NANDO:1200956", "Orphanet:86814", "SCTID:717225001", "UMLS:C4273988", "icd11.foundation:1036649329"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.", "id": "MONDO:0019449", "name": "Lissencephaly type 3-familial fetal akinesia sequence syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019067", "MEDGEN:930924", "Orphanet:86821", "SCTID:718719001", "UMLS:C4305255"]}
{"category": ["biolink:Disease"], "description": "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.", "id": "MONDO:0019450", "name": "Lissencephaly with cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["LCH"], "xref": ["GARD:0019068", "MEDGEN:905529", "Orphanet:86823", "SCTID:715817007", "UMLS:C4274995", "icd11.foundation:649858830"]}
{"category": ["biolink:Disease"], "description": "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.", "id": "MONDO:0019451", "name": "Chronic neutrophilic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["chronic neutrophilic leukemia", "neutrophilic leukaemia", "neutrophilic leukemia"], "xref": ["DOID:0080187", "EFO:1000179", "GARD:0010585", "ICDO:9963/3", "MEDGEN:6061", "MESH:D015467", "NCIT:C3179", "ONCOTREE:CNL", "Orphanet:86829", "SCTID:188734009", "UMLS:C0023481", "icd11.foundation:426734182"]}
{"category": ["biolink:Disease"], "description": "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.", "id": "MONDO:0019452", "name": "Myeloproliferative neoplasm, unclassifiable", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMPD, U", "CMPD-U", "MPN, U", "MPN-U", "chronic myeloproliferative disease, unclassifiable", "chronic myeloproliferative disorder, unclassifiable", "myeloproliferative neoplasm, unclassifiable", "unclassifiable chronic myeloproliferative disease", "unclassifiable chronic myeloproliferative disorder", "undifferentiated myeloproliferative disease"], "xref": ["GARD:0016764", "ICDO:9975/3", "MEDGEN:232365", "NCIT:C27350", "Orphanet:86830", "UMLS:C1333046"]}
{"category": ["biolink:Disease"], "description": "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.", "id": "MONDO:0019453", "name": "Myelodysplastic syndrome with multilineage dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["MDS-MLD", "RCMD", "refractory cytopenia with multilineage dysplasia"], "xref": ["GARD:0019069", "ICD10CM:D46.A", "ICD9:238.72", "ICDO:9985/3", "MEDGEN:208726", "MedDRA:10067959", "NCIT:C8574", "Orphanet:86836", "SCTID:415285009", "UMLS:C0796466"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.", "id": "MONDO:0019454", "name": "Myelodysplastic syndrome with excess blasts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MDS-EB", "RAEB", "myelodysplastic syndrome with Excess blasts", "refractory Anaemia with Excess blasts", "refractory Anaemia with an Excess of blasts", "refractory Anemia with Excess blasts", "refractory Anemia with an Excess of blasts"], "xref": ["EFO:0003811", "GARD:0019070", "ICDO:9983/3", "MEDGEN:8066", "MESH:D000754", "MedDRA:10038270", "NCIT:C7506", "Orphanet:86839", "SCTID:398623004", "UMLS:C0002894"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.", "id": "MONDO:0019455", "name": "Acute panmyelosis with myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["APMF", "acute (malignant) myelofibrosis", "acute (malignant) myelosclerosis", "acute myelodysplasia with myelofibrosis", "acute myelofibrosis", "acute myelosclerosis", "acute panmyelosis"], "xref": ["GARD:0011907", "ICD10CM:C94.4", "ICD9:289.89", "ICDO:9931/3", "MEDGEN:87279", "MedDRA:10000879", "NCIT:C4344", "ONCOTREE:APMF", "Orphanet:86843", "SCTID:109991003", "UMLS:C0334674", "icd11.foundation:1831346835", "icd11.foundation:585339631"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.", "id": "MONDO:0019456", "name": "Acute myeloid leukemia with multilineage dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AML with multilineage dysplasia", "AML with myelodysplasia-related features", "De novo acute myeloid leukaemia with multilineage dysplasia", "De novo acute myeloid leukemia with multilineage dysplasia"], "xref": ["GARD:0012761", "ICD10CM:C92.A", "ICDO:9895/3", "MEDGEN:224861", "NCIT:C9289", "Orphanet:86845", "SCTID:445448008", "UMLS:C1292773", "icd11.foundation:1235412948"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)", "id": "MONDO:0019457", "name": "Therapy related acute myeloid leukemia and myelodysplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Secondary AGL", "Secondary Acute granulocytic Leukaemia", "Secondary Acute granulocytic Leukemia", "Secondary Acute myeloblastic Leukaemia", "Secondary Acute myeloblastic Leukemia", "Secondary Acute myelocytic Leukaemia", "Secondary Acute myelocytic Leukemia", "Secondary Acute myelogenous Leukaemia", "Secondary Acute myelogenous Leukemia", "Secondary Acute myeloid Leukaemia (AML)", "Secondary Acute myeloid Leukemia (AML)", "secondary AML", "secondary acute myeloid leukaemia", "secondary acute myeloid leukemia", "therapy-related AML and myelodysplastic syndrome"], "xref": ["GARD:0012762", "MEDGEN:220954", "NCIT:C25765", "Orphanet:86846", "SCTID:721306009", "UMLS:C1292776", "icd11.foundation:1581599493"]}
{"category": ["biolink:Disease"], "description": "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.", "id": "MONDO:0019458", "name": "Acute basophilic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["basophilic leukaemia", "basophilic leukemia", "leukaemia basophilic", "leukemia basophilic"], "xref": ["DOID:0080795", "EFO:0003029", "GARD:0019071", "ICDO:9870/3", "MEDGEN:7314", "MESH:D015471", "NCIT:C3164", "ONCOTREE:ABL", "Orphanet:86849", "SCTID:307592006", "UMLS:C0023437", "icd11.foundation:1632520399"]}
{"category": ["biolink:Disease"], "description": "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)", "id": "MONDO:0019460", "name": "Acute leukemia of ambiguous lineage", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acute leukaemia of indeterminate lineage", "acute leukemia of ambiguous lineage", "acute leukemia of indeterminate lineage", "hybrid acute leukaemia", "hybrid acute leukemia", "mixed lineage acute leukaemia", "mixed lineage acute leukemia"], "xref": ["GARD:0008638", "MEDGEN:226983", "MedDRA:10067399", "NANDO:2200017", "NANDO:2200018", "NCIT:C7464", "Orphanet:86851", "SCTID:721308005", "UMLS:C1301357", "icd11.foundation:1062906118"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.", "id": "MONDO:0019461", "name": "B-cell prolymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B prolymphocytic leukaemia", "B prolymphocytic leukemia", "B-PLL", "B-cell prolymphocytic leukemia"], "xref": ["DOID:0081041", "EFO:1000102", "GARD:0008223", "ICDO:9833/3", "MEDGEN:105396", "MESH:D054403", "NCIT:C4753", "ONCOTREE:BPLL", "Orphanet:86852", "SCTID:277619001", "UMLS:C0475801", "icd11.foundation:1997215876"]}
{"category": ["biolink:Disease"], "description": "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.", "id": "MONDO:0019462", "name": "Splenic marginal zone lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SLVL", "SMZL", "marginal zone lymphoma of spleen", "marginal zone lymphoma of the spleen", "splenic lymphoma with circulating villous lymphocytes", "splenic marginal zone B-cell lymphoma", "splenic marginal zone B-cell lymphoma with villous lymphocytes", "splenic marginal zone lymphoma", "splenic marginal zone lymphoma with villous lymphocytes"], "xref": ["DOID:0050750", "EFO:1000550", "GARD:0019072", "ICDO:9689/3", "MEDGEN:138108", "MedDRA:10062113", "NCIT:C4663", "ONCOTREE:SMZL", "Orphanet:86854", "SCTID:763666008", "UMLS:C0349632", "icd11.foundation:1002343712"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019463", "name": "Non-amyloid monoclonal immunoglobulin deposition disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Randall disease", "non-amyloid MIDD"], "xref": ["GARD:0019073", "MEDGEN:1716147", "Orphanet:86861", "UMLS:C5394673"]}
{"category": ["biolink:Disease"], "description": "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.", "id": "MONDO:0019464", "name": "Heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HCD", "heavy chain disease"], "xref": ["DOID:0060125", "EFO:1001341", "GARD:0019074", "ICD10CM:C88.2", "ICD10CM:C88.3", "ICD9:273.2", "ICDO:9762/3", "MEDGEN:5469", "MESH:D006362", "MedDRA:10019350", "NCIT:C3082", "Orphanet:86864", "SCTID:68979007", "UMLS:C0018852"]}
{"category": ["biolink:Disease"], "description": "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.", "id": "MONDO:0019465", "name": "Nodal marginal zone b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Monocytoid B-cell lymphoma", "NMZL", "nodal marginal zone B-cell lymph.", "nodal marginal zone B-cell lymphoma", "nodal marginal zone lymphoma"], "xref": ["DOID:0080211", "GARD:0019075", "MEDGEN:208959", "MedDRA:10029460", "NCIT:C8863", "ONCOTREE:NMZL", "Orphanet:86867", "SCTID:277623009", "UMLS:C0855139", "icd11.foundation:1720785883"]}
{"category": ["biolink:Disease"], "description": "A very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.", "id": "MONDO:0019466", "name": "Lymphomatoid granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LYG"], "xref": ["DOID:0081307", "GARD:0006943", "ICDO:9766/1", "MEDGEN:6161", "MESH:D008230", "MedDRA:10025325", "NCIT:C7930", "NORD:1385", "ONCOTREE:LYG", "Orphanet:86869", "SCTID:239940004", "UMLS:C0024307", "icd11.foundation:1890408959"]}
{"category": ["biolink:Disease"], "description": "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.", "id": "MONDO:0019467", "name": "Cd4+/cd56+ hematodermic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BPDCN", "CD4+/CD56+ hematodermic neoplasm", "agranular CD4+ CD56+ hematodermic neoplasm/tumor", "agranular CD4+ natural Killer cell leukaemia", "agranular CD4+ natural Killer cell leukemia", "blastic NK-cell lymphoma", "blastic natural Killer leukemia/lymphoma", "blastic plasmacytoid Dendritic cell neoplasm", "blastic plasmacytoid dendritic cell neoplasm", "early plasmacytoid Dendritic cell leukemia/lymphoma", "lymphoblastoid variant of NK-cell lymphoma", "monomorphic NK-cell lymphoma", "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm"], "xref": ["DOID:0081076", "EFO:0010580", "GARD:0010556", "ICD10CM:C86.4", "ICD9:202.80", "ICDO:9727/3", "MEDGEN:220972", "NCIT:C7203", "ONCOTREE:BPDCN", "Orphanet:86870", "SCTID:445105005", "UMLS:C1301363", "icd11.foundation:783045723"]}
{"category": ["biolink:Disease"], "description": "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.", "id": "MONDO:0019468", "name": "T-cell prolymphocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLL, T-cell", "T cell CLL", "T cell chronic lymphocytic leukaemia", "T cell chronic lymphocytic leukemia", "T cell prolymphocytic leukaemia", "T cell prolymphocytic leukemia", "T prolymphocytic leukaemia", "T prolymphocytic leukemia", "T-PLL", "T-cell CLL", "T-cell chronic lymphocytic leukaemia", "T-cell chronic lymphocytic leukemia", "T-cell prolymphocytic leukemia"], "xref": ["DOID:0081042", "EFO:1000560", "GARD:0013731", "ICDO:9834/3", "MEDGEN:391707", "MESH:D015461", "MedDRA:10042985", "NCIT:C4752", "ONCOTREE:TPLL", "Orphanet:86871", "SCTID:277545003", "SCTID:277567002", "UMLS:C2363142", "icd11.foundation:352523899"]}
{"category": ["biolink:Disease"], "description": "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.", "id": "MONDO:0019469", "name": "T-cell large granular lymphocyte leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGLL", "T gamma lymphoproliferative disorder", "T-LGL", "T-LGL leukaemia", "T-LGL leukemia", "T-cell LGL leukaemia", "T-cell LGL leukemia", "T-cell large gran. lymph. leuk.", "T-cell large granular lymphocyte leukemia", "T-cell large granular lymphocytic leukaemia", "T-cell large granular lymphocytic leukemia", "T-gamma lymphoproliferative disorder", "Tgamma large granular lymphocyte leukaemia", "Tgamma large granular lymphocyte leukemia", "large cell granular lymphogenous leukaemia", "large cell granular lymphogenous leukemia", "large cell granular lymphoid leukaemia", "large cell granular lymphoid leukemia", "large granular lymphocytic leukemia", "large granular lymphocytosis", "leukemia, large granular LYMPHOCYTIC, malignant", "proliferation of large granular lymphocytes"], "xref": ["DOID:0050751", "GARD:0009812", "ICD9:204.80", "ICDO:9768/1", "ICDO:9831/1", "ICDO:9831/3", "MEDGEN:363038", "MedDRA:10065862", "NCIT:C4664", "ONCOTREE:TLGL", "Orphanet:86872", "SCTID:277569004", "UMLS:C1955861", "icd11.foundation:83430037"]}
{"category": ["biolink:Disease"], "description": "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.", "id": "MONDO:0019470", "name": "Aggressive nk-cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANKCL", "NK cell leukaemia", "NK cell leukemia", "NK-cell LGL leukaemia", "NK-cell LGL leukemia", "NK-cell large granular lymphocyte leukaemia", "NK-cell large granular lymphocyte leukemia", "NK-cell leukaemia", "NK-cell leukemia", "aggressive NK-cell leukaemia (morphologic abnormality)", "aggressive NK-cell leukemia", "aggressive NK-cell leukemia (morphologic abnormality)", "aggressive NK-cell leukemia/lymphoma", "aggressive NK-cell lymphoma", "leukaemia (disease) of natural killer cell", "leukemia (disease) of natural killer cell", "natural Killer cell leukemia", "natural killer cell leukaemia (disease)", "natural killer cell leukemia", "natural killer cell leukemia (disease)"], "xref": ["DOID:1035", "GARD:0010493", "ICDO:9948/3", "MEDGEN:266235", "MedDRA:10028811", "NANDO:2200012", "NCIT:C8647", "ONCOTREE:ANKL", "Orphanet:86873", "SCTID:721310007", "UMLS:C1292777", "icd11.foundation:153957345"]}
{"category": ["biolink:Disease"], "description": "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.", "id": "MONDO:0019471", "name": "Adult t-cell leukemia/lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATLL", "T-cell leukaemia of adults", "T-cell leukemia of adults", "adult T-cell leukaemia", "adult T-cell leukemia", "adult T-cell leukemia/lymphoma"], "xref": ["DOID:0050523", "GARD:0019076", "ICD9:204.80", "ICDO:9827/3", "MEDGEN:44128", "MedDRA:10001413", "NCIT:C3184", "ONCOTREE:ATLL", "Orphanet:86875", "SCTID:110007008", "UMLS:C0023493", "icd11.foundation:430573082"]}
{"category": ["biolink:Disease"], "description": "A rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.", "id": "MONDO:0019472", "name": "Extranodal nasal nk/t cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Extranodal NK/T lymphoma-nasal", "Extranodal NK/T-cell lymphoma, nasal type", "NK/T-cell lymphoma", "NKTCL", "angiocentric T-cell lymphoma", "lethal midline granuloma", "nasal T/natural killer-cell lymphoma", "nasal type Extranodal NK/T-cell lymphoma", "reticulosis, malignant"], "xref": ["DOID:0080797", "GARD:0007041", "ICD10CM:C86.0", "ICDO:9719/3", "MEDGEN:140278", "MedDRA:10065855", "NANDO:2200027", "NCIT:C4684", "Orphanet:86879", "UMLS:C0392788", "icd11.foundation:684005900"]}
{"category": ["biolink:Disease"], "description": "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.", "id": "MONDO:0019473", "name": "Enteropathy-associated t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EATL", "EATL, type I", "ETTL", "enteropathy associated T-cell lymphoma", "enteropathy-associated T-cell lymphoma, type I", "enteropathy-type T-cell lymphoma", "intestinal T-cell lymphoma"], "xref": ["GARD:0009809", "ICD10CM:C86.2", "ICD9:202.70", "ICDO:9717/3", "MEDGEN:96832", "MESH:D058527", "MedDRA:10022703", "NCIT:C4737", "ONCOTREE:EATL", "Orphanet:86880", "SCTID:277654008", "UMLS:C0456889", "icd11.foundation:958629729"]}
{"category": ["biolink:Disease"], "description": "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.", "id": "MONDO:0019474", "name": "Hepatosplenic t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hepatosplenic gamma/Delta T-cell lymphoma"], "xref": ["DOID:0081049", "GARD:0019077", "ICD10CM:C86.1", "ICD9:202.80", "ICDO:9716/3", "MEDGEN:272711", "MedDRA:10066957", "NCIT:C8459", "ONCOTREE:HSTCL", "Orphanet:86882", "SCTID:445406001", "UMLS:C1333984", "icd11.foundation:1301206942"]}
{"category": ["biolink:Disease"], "description": "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.", "id": "MONDO:0019475", "name": "Subcutaneous panniculitis-like t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPTCL", "subcutaneous panniculitic T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)", "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type"], "xref": ["DOID:0070662", "EFO:1000552", "GARD:0010193", "ICD10CM:C86.3", "ICD9:202.70", "ICDO:9708/3", "MEDGEN:99306", "MESH:C537503", "NANDO:2200030", "NCIT:C6918", "OMIM:618398", "ONCOTREE:SPTCL", "Orphanet:86884", "SCTID:404133000", "UMLS:C0522624", "icd11.foundation:1550338805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019476", "name": "Primary cutaneous peripheral t-cell lymphoma not otherwise specified", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["primary cutaneous unspecified peripheral T-cell lymphoma"], "xref": ["GARD:0019078", "MEDGEN:38240", "MedDRA:10034623", "NCIT:C201080", "Orphanet:86885", "UMLS:C0079774"]}
{"category": ["biolink:Disease"], "description": "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.", "id": "MONDO:0019478", "name": "Adult nodular lymphocyte predominant hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult NLPHD", "adult nodular lymphocyte predominant Hodgkin's disease", "adult nodular lymphocyte predominant Hodgkin's lymphoma"], "xref": ["GARD:0025137", "MEDGEN:231044", "NCIT:C7942", "UMLS:C1332210"]}
{"category": ["biolink:Disease"], "description": "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.", "id": "MONDO:0019479", "name": "Histiocytic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["histiocytic sarcoma", "sarcoma, histiocytic, malignant"], "xref": ["DOID:0080915", "GARD:0019080", "ICD10CM:C96.A", "ICD9:171.9", "ICDO:9755/3", "MEDGEN:137793", "MESH:D054747", "NCIT:C27349", "ONCOTREE:HS", "Orphanet:86896", "SCTID:109988003", "UMLS:C0334663", "icd11.foundation:1925254893", "icd11.foundation:911785965"]}
{"category": ["biolink:Disease"], "description": "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)", "id": "MONDO:0019480", "name": "Langerhans cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Langerhans cell sarcoma", "sarcoma of Langerhans cell"], "xref": ["DOID:7146", "EFO:0007336", "GARD:0010491", "ICDO:9756/3", "MEDGEN:266041", "MESH:D054752", "NANDO:2200036", "NCIT:C6921", "ONCOTREE:LCS", "Orphanet:86897", "SCTID:724649000", "UMLS:C1260327", "icd11.foundation:588958190", "icd11.foundation:933337476"]}
{"category": ["biolink:Disease"], "description": "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.", "id": "MONDO:0019483", "name": "Methotrexate-associated lymphoproliferative disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MTX-LPD", "MTX-associated lymphoproliferative disorders", "methotrexate-associated lymphoproliferation", "methotrexate-associated lymphoproliferative disorder"], "xref": ["DOID:5821", "GARD:0019083", "MEDGEN:233702", "NCIT:C7184", "Orphanet:86904", "UMLS:C1334749", "icd11.foundation:1520483526"]}
{"category": ["biolink:Disease"], "description": "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.", "id": "MONDO:0019484", "name": "Hypothalamic hamartomas with gelastic seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019084", "MEDGEN:1642420", "Orphanet:86906", "UMLS:C4707883"]}
{"category": ["biolink:Disease"], "description": "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.", "id": "MONDO:0019485", "name": "Idiopathic hemiconvulsion-hemiplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HHE syndrome", "IHHS", "hemiconvulsion-hemiplegia-epilepsy syndrome"], "xref": ["GARD:0019085", "MEDGEN:639806", "NANDO:1200596", "Orphanet:86908", "SCTID:230407006", "UMLS:C0549118"]}
{"category": ["biolink:Disease"], "description": "A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.", "id": "MONDO:0019487", "name": "Epilepsy with myoclonic absences", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EMA"], "xref": ["GARD:0019087", "MEDGEN:140741", "NANDO:1200589", "Orphanet:86911", "SCTID:230422001", "UMLS:C0393703", "icd11.foundation:274380122"]}
{"category": ["biolink:Disease"], "description": "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.", "id": "MONDO:0019488", "name": "Myoclonic epilepsy in non-progressive encephalopathies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myoclonic status in non-progressive encephalopathies", "myoclonus epilepsy in non-progressive encephalopathies"], "xref": ["GARD:0019088", "MEDGEN:1661865", "Orphanet:86913", "UMLS:C4755298"]}
{"category": ["biolink:Disease"], "description": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.", "id": "MONDO:0019489", "name": "Diffuse palmoplantar keratoderma - acrocyanosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome"], "xref": ["GARD:0019089", "MEDGEN:929257", "Orphanet:86918", "UMLS:C4303588"]}
{"category": ["biolink:Disease"], "description": "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.", "id": "MONDO:0019490", "name": "Progressive familial heart block", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial Lenègre disease", "familial Lev-Lenègre disease", "familial progressive heart block"], "xref": ["DOID:0111073", "GARD:0010005", "ICD9:426.6", "OMIMPS:113900", "Orphanet:871", "SCTID:698249005", "SCTID:93130009", "icd11.foundation:1762068981"]}
{"category": ["biolink:Disease"], "description": "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).", "id": "MONDO:0019493", "name": "Primary adult heart tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adult cardiac tumor", "adult cardiac tumour", "adult heart tumor", "adult heart tumour"], "xref": ["GARD:0018709", "MEDGEN:900582", "Orphanet:874", "SCTID:715403006", "UMLS:C4275152", "icd11.foundation:1784866291"]}
{"category": ["biolink:Disease"], "description": "Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.", "id": "MONDO:0019494", "name": "Primary pediatric heart tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cardiac tumor of child", "Cardiac tumour of child", "heart tumor of child", "heart tumour of child", "paediatric heart neoplasm", "pediatric heart neoplasm"], "xref": ["GARD:0018710", "MEDGEN:895113", "Orphanet:875", "UMLS:C4274356"]}
{"category": ["biolink:Disease"], "description": "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).", "id": "MONDO:0019496", "name": "Neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["APUDoma", "neuroendocrine neoplasm", "neuroendocrine tumor", "neuroendocrine tumour"], "xref": ["DOID:169", "EFO:1001901", "GARD:0009316", "ICD9:209", "ICD9:209-209", "ICD9:239.7", "MEDGEN:64652", "MESH:D018358", "NCIT:C188218", "NCIT:C3809", "Orphanet:877", "SCTID:255046005", "UMLS:C0206754"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by hearing loss that is not part of a larger syndrome.", "id": "MONDO:0019497", "name": "Nonsyndromic genetic hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nonsyndromic genetic hearing loss"], "xref": ["DOID:0050563", "MEDGEN:1830101", "MESH:C580334", "Orphanet:87884", "UMLS:C5680182", "icd11.foundation:1154032108"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Tunga penetrans.", "id": "MONDO:0019498", "name": "Tungiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Tunga penetrans caused disease or disorder", "Tunga penetrans disease or disorder", "Tunga penetrans infectious disease"], "xref": ["DOID:0050266", "EFO:1001445", "GARD:0000393", "ICD10CM:B88.1", "ICD9:134.1", "MEDGEN:78823", "MESH:D058285", "Orphanet:879", "SCTID:64612002", "UMLS:C0277356", "icd11.foundation:2076748409"]}
{"category": ["biolink:Disease"], "description": "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.", "id": "MONDO:0019499", "name": "Turner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["45,X gonadal dysgenesis", "45,X syndrome", "45,X/46,XX syndrome", "45,X0 syndrome", "45X syndrome", "karyotype 45, X"], "xref": ["DOID:3491", "GARD:0007831", "ICD10CM:Q96.0", "ICD10WHO:Q96", "ICD9:758.7", "MEDGEN:21734", "MESH:D014424", "MedDRA:10045181", "NANDO:2200410", "NCIT:C26900", "NORD:1806", "Orphanet:881", "SCTID:38804009", "UMLS:C0041408", "icd11.foundation:1987089698"]}
{"category": ["biolink:Disease"], "description": "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.", "id": "MONDO:0019500", "name": "Extragonadal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018711", "MEDGEN:1646497", "MedDRA:10043276", "NCIT:C189045", "Orphanet:883", "SCTID:768937006", "UMLS:C4708601"]}
{"category": ["biolink:Disease"], "description": "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.", "id": "MONDO:0019501", "name": "Usher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["USH", "Usher's syndrome", "ush"], "xref": ["DOID:0050439", "GARD:0007843", "MESH:D052245", "MedDRA:10063396", "NANDO:1200941", "NCIT:C85217", "NORD:1816", "OMIMPS:276900", "Orphanet:886", "icd11.foundation:1452641873"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of non-syndromic intellectual disability.", "id": "MONDO:0019502", "name": "Autosomal recessive non-syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["AR-NSID", "NS-ARID", "autosomal recessive non-syndromic intellectual disability", "mental retardation, autosomal recessive", "non-syndromic intellectual disability, autosomal recessive"], "xref": ["DOID:0060308", "GARD:0018643", "MEDGEN:1826073", "OMIMPS:249500", "Orphanet:88616", "UMLS:C5680181"]}
{"category": ["biolink:Disease"], "description": "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).", "id": "MONDO:0019503", "name": "Anterior segment dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ASGD", "ASMD", "ASOD", "anterior segment mesenchymal dysgenesis", "anterior segment ocular dysgenesis", "familial ocular anterior segment mesenchymal dysgenesis"], "xref": ["DOID:0060648", "GARD:0010025", "ICD9:743.49", "MEDGEN:350766", "NANDO:1201000", "OMIMPS:107250", "Orphanet:88632", "SCTID:65075004", "UMLS:C1862839", "icd11.foundation:1182282997", "icd11.foundation:943599144"]}
{"category": ["biolink:Disease"], "description": "A chronic and recurrent eye disease which affects the superior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause of SLK remains unknown, it is believed that the condition is secondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.", "id": "MONDO:0019504", "name": "Superior limbic keratoconjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SLK", "Theodore's superior limbic keratoconjunctivitis", "Theodore's syndrome", "Theodores superior limbic keratoconjunctivitis", "Theodores syndrome", "superior limbal keratoconjunctivitis"], "xref": ["GARD:0010940", "ICD9:370.49", "MEDGEN:573037", "Orphanet:88633", "SCTID:231903005", "UMLS:C0339229", "icd11.foundation:1962803547"]}
{"category": ["biolink:Disease"], "description": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.", "id": "MONDO:0019506", "name": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019092", "MEDGEN:928548", "Orphanet:88643", "SCTID:722051004", "UMLS:C4302879"]}
{"category": ["biolink:Disease"], "description": "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.", "id": "MONDO:0019507", "name": "Amelogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["CSP:0828-0533", "DOID:2187", "GARD:0005791", "ICD9:520.5", "MEDGEN:240", "MESH:D000567", "NORD:765", "OMIMPS:104500", "Orphanet:88661", "SCTID:78494001", "UMLS:C0002452", "icd11.foundation:1923123066"]}
{"category": ["biolink:Disease"], "description": "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.", "id": "MONDO:0019508", "name": "Van der woude syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VWS", "cleft lip/palate with mucous cysts of lower lip", "lip-pit syndrome"], "xref": ["DOID:0060239", "GARD:0008414", "ICD9:744.89", "MEDGEN:61233", "MESH:C536528", "NCIT:C74986", "OMIMPS:119300", "Orphanet:888", "SCTID:79261008", "UMLS:C0175697", "icd11.foundation:133440037"]}
{"category": ["biolink:Disease"], "description": "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.", "id": "MONDO:0019509", "name": "Cutaneous leukocytoclastic angiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cutaneous hypersensitivity vasculitis", "cutaneous leukocytoclastic vasculitis", "cutaneous small vessel vasculitis", "cutaneous small-vessel vasculitis", "hypersensitivity angiitis"], "xref": ["GARD:0007851", "MEDGEN:881641", "NCIT:C122919", "Orphanet:889", "SCTID:718217000", "UMLS:C4049638", "icd11.foundation:247535295", "icd11.foundation:71458216"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of heart development.", "id": "MONDO:0019512", "name": "Congenital heart malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["congenital heart malformation", "disorder of heart development", "heart development disease"], "xref": ["EFO:0005269", "MEDGEN:1680993", "Orphanet:88991", "UMLS:C3649636"]}
{"category": ["biolink:Disease"], "description": "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.", "id": "MONDO:0019514", "name": "Hepatic veno-occlusive disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Budd Chiari Syndrome", "hepatic Vod", "liver veno-occlusive disease", "sinusoidal obstruction syndrome"], "xref": ["DOID:0080177", "GARD:0013004", "ICD10CM:K76.5", "ICD9:453.89", "MEDGEN:5514", "MESH:D006504", "MedDRA:10047216", "NCIT:C26793", "NORD:879", "Orphanet:890", "SCTID:65617004", "UMLS:C0019156", "icd11.foundation:762044088", "icd11.foundation:901464792"]}
{"category": ["biolink:Disease"], "description": "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.", "id": "MONDO:0019516", "name": "Exudative vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Criswick-Schepens syndrome", "FEVR", "familial exudative vitreoretinopathy"], "xref": ["DOID:0050535", "GARD:0001613", "ICD9:362.10", "MEDGEN:573220", "MESH:C580083", "OMIMPS:133780", "Orphanet:891", "SCTID:232063007", "UMLS:C0339539"]}
{"category": ["biolink:Disease"], "description": "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.", "id": "MONDO:0019517", "name": "Waardenburg syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["WS2", "Waardenburg syndrome type 2", "Waardenburg syndrome type II"], "xref": ["GARD:0005520", "MEDGEN:398443", "MESH:C536463", "NCIT:C75009", "Orphanet:895", "UMLS:C2700265", "icd11.foundation:746815303"]}
{"category": ["biolink:Disease"], "description": "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.", "id": "MONDO:0019518", "name": "Waardenburg-shah syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Shah-Waardenburg syndrome", "WS4", "Waardenburg syndrome type 4", "Waardenburg syndrome type IV", "Waardenburg-Hirschsprung syndrome", "Waardenburg-Shah syndrome"], "xref": ["GARD:0005524", "NCIT:C124842", "Orphanet:897", "icd11.foundation:1420151003"]}
{"category": ["biolink:Disease"], "description": "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.", "id": "MONDO:0019521", "name": "Centripetalis recessive dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RDEB, centripetalis", "RDEB-Ce", "centripetal dystrophic epidermolysis bullosa", "centripetal recessive dystrophic epidermolysis bullosa"], "xref": ["GARD:0025138", "MEDGEN:1377762", "Orphanet:89841", "SCTID:725419003", "UMLS:C4511056"]}
{"category": ["biolink:Disease"], "description": "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.", "id": "MONDO:0019522", "name": "Recessive dystrophic epidermolysis bullosa-generalized other", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["RDEB generalisata mitis", "RDEB, generalised intermediate", "RDEB, generalized intermediate", "RDEB, non-Hallopeau-Siemens type", "RDEB-O", "RDEB-generalized other", "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis", "autosomal recessive dystrophic epidermolysis bullosa, generalised other", "autosomal recessive dystrophic epidermolysis bullosa, generalized other", "generalised mitis RDEB", "generalized mitis RDEB", "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type"], "xref": ["GARD:0012794", "MEDGEN:1392226", "Orphanet:89842", "UMLS:C4511044"]}
{"category": ["biolink:Disease"], "description": "A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.", "id": "MONDO:0019524", "name": "Bartter syndrome type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Bartter syndrome type 4", "Bartter syndrome type IV", "Bartter syndrome with sensorineural deafness"], "xref": ["GARD:0010508", "MEDGEN:824706", "Orphanet:89938", "SCTID:700112007", "UMLS:C3838860", "icd11.foundation:959024909"]}
{"category": ["biolink:Disease"], "description": "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).", "id": "MONDO:0019525", "name": "Tetrasomy x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["48,XXXX syndrome", "quadruple X", "tetra X", "tetrasomy type X"], "xref": ["GARD:0007754", "ICD9:758.81", "MEDGEN:120544", "MESH:C536502", "Orphanet:9", "SCTID:10567003", "UMLS:C0265496", "icd11.foundation:1181464236"]}
{"category": ["biolink:Disease"], "description": "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.", "id": "MONDO:0019526", "name": "Erythema elevatum diutinum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0060567", "GARD:0008653", "ICD10CM:L95.1", "ICD9:695.89", "MEDGEN:75517", "MESH:C535509", "MedDRA:10056968", "Orphanet:90000", "SCTID:58872001", "UMLS:C0263398", "icd11.foundation:754210950"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.", "id": "MONDO:0019527", "name": "Undifferentiated connective tissue syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UCTD", "undifferentiated connective tissue disease"], "xref": ["GARD:0019097", "MEDGEN:592754", "MedDRA:10071575", "NCIT:C116776", "Orphanet:90002", "SCTID:239918008", "UMLS:C0409999"]}
{"category": ["biolink:Disease"], "description": "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.", "id": "MONDO:0019528", "name": "Inflammatory pseudotumor of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IgG4-related hepatopathy"], "xref": ["GARD:0019098", "Orphanet:90003"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.", "id": "MONDO:0019529", "name": "Radiation myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019099", "ICD9:336.8", "MEDGEN:1638362", "Orphanet:90021", "SCTID:26037005", "UMLS:C4706614"]}
{"category": ["biolink:Disease"], "description": "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.", "id": "MONDO:0019530", "name": "Non-syndromic syndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["nonsyndromic syndactyly"], "xref": ["MEDGEN:1842957", "MedDRA:10042778", "NCIT:C87125", "Orphanet:90025", "UMLS:C5681365", "icd11.foundation:1736296640"]}
{"category": ["biolink:Disease"], "description": "Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.", "id": "MONDO:0019531", "name": "Hemolytic anemia due to glutathione reductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemolytic anemia due to glutathione reductase deficiency"], "xref": ["DOID:0051009", "GARD:0016784", "MEDGEN:1684855", "OMIM:618660", "Orphanet:90030", "UMLS:C5231513"]}
{"category": ["biolink:Disease"], "description": "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).", "id": "MONDO:0019532", "name": "Autoimmune hemolytic anemia, warm type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Warm Autoimmune Hemolytic Anemia", "wAHA", "wAIHA", "warm AIHA"], "xref": ["GARD:0007876", "ICD10CM:D59.11", "MEDGEN:450541", "MedDRA:10047822", "NANDO:1200306", "NCIT:C162611", "NORD:1837", "Orphanet:90033", "SCTID:3978000", "UMLS:C0272118", "icd11.foundation:880772122"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.", "id": "MONDO:0019533", "name": "Paroxysmal cold hemoglobinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Donath-Landsteiner hemolytic anaemia", "Donath-Landsteiner hemolytic anemia", "Donath-Landsteiner syndrome", "PCH"], "xref": ["GARD:0007335", "MEDGEN:39693", "NANDO:1200308", "NANDO:2200619", "NORD:1556", "Orphanet:90035", "SCTID:127057004", "UMLS:C0086774", "icd11.foundation:715111132"]}
{"category": ["biolink:Disease"], "description": "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.", "id": "MONDO:0019534", "name": "Mixed-type autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["mixed AIHA"], "xref": ["GARD:0019101", "MEDGEN:930926", "NANDO:1200309", "Orphanet:90036", "SCTID:718716008", "UMLS:C4305257", "icd11.foundation:1878239449"]}
{"category": ["biolink:Disease"], "description": "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.", "id": "MONDO:0019535", "name": "Drug-induced autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["drug-induced AIHA"], "xref": ["GARD:0019102", "ICD10CM:D59.0", "MEDGEN:580980", "Orphanet:90037", "SCTID:309742004", "UMLS:C0391817"]}
{"category": ["biolink:Disease"], "description": "A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.", "id": "MONDO:0019536", "name": "Shiga toxin-associated hemolytic uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["D+HUS", "STEC Hemolytic Uremic Syndrome", "Shiga-like toxin-associated HUS", "Sxt-HUS", "hemolytic-uremic syndrome with diarrhea", "hemolytic-uremic syndrome with diarrhoea", "typical HUS", "typical hemolytic-uremic syndrome"], "xref": ["GARD:0006588", "MEDGEN:383843", "NANDO:2200640", "Orphanet:90038", "UMLS:C1856143"]}
{"category": ["biolink:Disease"], "description": "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).", "id": "MONDO:0019537", "name": "Hemoglobin d disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hemoglobin D disease"], "xref": ["DOID:5378", "GARD:0019103", "ICD9:282.7", "MEDGEN:124416", "MedDRA:10055019", "NCIT:C35344", "Orphanet:90039", "SCTID:66729008", "UMLS:C0272080", "icd11.foundation:1508363690"]}
{"category": ["biolink:Disease"], "description": "Polycythemia that is caused by stress.", "id": "MONDO:0019538", "name": "Gaisbock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["stress erythrocytosis", "stress polycythemia"], "xref": ["DOID:2838", "GARD:0019104", "MEDGEN:745735", "MedDRA:10042217", "MedDRA:10053885", "NCIT:C27174", "Orphanet:90041", "SCTID:36874002", "UMLS:C2242785", "icd11.foundation:533704171"]}
{"category": ["biolink:Disease"], "description": "A respiratory disorder characterized by diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.", "id": "MONDO:0019540", "name": "Diffuse alveolar hemorrhage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["diffuse alveolar haemorrhage (disease)", "diffuse alveolar hemorrhage", "diffuse alveolar hemorrhage (disease)"], "xref": ["GARD:0019110", "HP:0025420", "MEDGEN:1381751", "Orphanet:90060", "UMLS:C4476767"]}
{"category": ["biolink:Disease"], "description": "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.", "id": "MONDO:0019542", "name": "Acute liver failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acute hepatic failure", "fulminant hepatic failure"], "xref": ["GARD:0019112", "MEDGEN:58125", "MESH:D017114", "MedDRA:10000804", "NCIT:C84396", "Orphanet:90062", "SCTID:197270009", "UMLS:C0162557"]}
{"category": ["biolink:Disease"], "description": "A serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.", "id": "MONDO:0019543", "name": "Acquired aneurysmal subarachnoid hemorrhage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019114", "MEDGEN:572642", "Orphanet:90065", "UMLS:C0338572", "icd11.foundation:958976948"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019544", "name": "Cocaine intoxication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["ICD9:292.89", "Orphanet:90068", "SCTID:27956007", "icd11.foundation:1965837313"]}
{"category": ["biolink:Disease"], "description": "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.", "id": "MONDO:0019545", "name": "Systemic monochloroacetate poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:90069"]}
{"category": ["biolink:Disease"], "description": "Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.", "id": "MONDO:0019547", "name": "Wells syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Familial Eosinophilic Cellulitis", "eosinophilic cellulitis"], "xref": ["GARD:0000329", "ICD10CM:L98.3", "ICD9:682.9", "MEDGEN:91008", "MESH:C536693", "NORD:1124", "Orphanet:901", "SCTID:238931006", "UMLS:C0343101", "icd11.foundation:1860796142"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.", "id": "MONDO:0019548", "name": "Autosomal dominant intermediate charcot-marie-tooth disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMTDI", "autosomal dominant intermediate Charcot-Marie-Tooth disease", "intermediate Charcot-Marie-Tooth disease, autosomal dominant"], "xref": ["GARD:0012436", "MEDGEN:1826161", "Orphanet:90114", "UMLS:C5680178"]}
{"category": ["biolink:Disease"], "description": "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.", "id": "MONDO:0019549", "name": "Severe early-onset axonal neuropathy due to mfn2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AR-CMT2, Ouvrier type", "SEOAN due to MFN2 deficiency", "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"], "xref": ["GARD:0019123", "MEDGEN:1641956", "Orphanet:90118", "SCTID:766977007", "UMLS:C4707897"]}
{"category": ["biolink:Disease"], "description": "A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.", "id": "MONDO:0019550", "name": "Hereditary motor and sensory neuropathy with acrodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AR-CMT2 with acrodystrophy", "HMSN with acrodystrophy", "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy", "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy"], "xref": ["GARD:0019124", "MEDGEN:1669448", "Orphanet:90119", "UMLS:C4749729"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019551", "name": "Hereditary motor and sensory neuropathy type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT6", "Charcot-Marie-Tooth disease type 6", "hereditary motor and sensory neuropathy type 6", "peripheral neuropathy and optic atrophy"], "xref": ["DOID:0080068", "GARD:0016787", "MEDGEN:140747", "Orphanet:90120", "UMLS:C0393807", "icd11.foundation:467894833"]}
{"category": ["biolink:Disease"], "description": "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.", "id": "MONDO:0019552", "name": "Centrifugal lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lipodystrophia centrifugalis abdominalis infantilis"], "xref": ["GARD:0019125", "MEDGEN:590539", "Orphanet:90156", "UMLS:C0406605", "icd11.foundation:1561732835"]}
{"category": ["biolink:Disease"], "description": "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.", "id": "MONDO:0019553", "name": "Drug-induced localized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lipoatrophy caused by injected drug"], "xref": ["GARD:0019126", "MEDGEN:698295", "Orphanet:90157", "SCTID:403661001", "UMLS:C1274983"]}
{"category": ["biolink:Disease"], "description": "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).", "id": "MONDO:0019554", "name": "Idiopathic localized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019127", "MEDGEN:633314", "Orphanet:90158", "UMLS:C0473566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019555", "name": "Panniculitis and localized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019128", "MEDGEN:1678538", "Orphanet:90159", "UMLS:C5190785"]}
{"category": ["biolink:Disease"], "description": "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.", "id": "MONDO:0019556", "name": "Pressure-induced localized lipoatrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lipoatrophia semicircularis", "semicircular lipoatrophy"], "xref": ["GARD:0019129", "MEDGEN:687584", "Orphanet:90160", "SCTID:238898001", "UMLS:C1260961"]}
{"category": ["biolink:Disease"], "description": "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.", "id": "MONDO:0019557", "name": "Chilblain lupus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHLE", "Hutchinson lupus"], "xref": ["DOID:0060386", "GARD:0019130", "MEDGEN:1632142", "MedDRA:10025141", "Orphanet:90280", "UMLS:C4551515"]}
{"category": ["biolink:Disease"], "description": "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).", "id": "MONDO:0019558", "name": "Discoid lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DLE"], "xref": ["GARD:0019131", "ICD10CM:L93.0", "MEDGEN:1811126", "MESH:D008179", "MedDRA:10013072", "NCIT:C26820", "Orphanet:90281", "SCTID:200938002", "UMLS:C5574816", "icd11.foundation:2144907708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019559", "name": "Hypertrophic or verrucous lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019132", "MEDGEN:698156", "Orphanet:90282", "UMLS:C1274838"]}
{"category": ["biolink:Disease"], "description": "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.", "id": "MONDO:0019560", "name": "Lupus erythematosus tumidus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LET", "intermittent cutaneous lupus", "let"], "xref": ["GARD:0013003", "MEDGEN:590566", "NCIT:C117112", "Orphanet:90283", "SCTID:200941006", "UMLS:C0406636", "icd11.foundation:153320433"]}
{"category": ["biolink:Disease"], "description": "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.", "id": "MONDO:0019561", "name": "Lupus erythematosus panniculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lupus erythematosus profundus", "lupus panniculitis", "lupus profundus"], "xref": ["GARD:0019133", "MEDGEN:14589", "MESH:D015435", "NCIT:C82884", "Orphanet:90285", "SCTID:15084002", "UMLS:C0030327"]}
{"category": ["biolink:Disease"], "description": "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.", "id": "MONDO:0019562", "name": "Localized scleroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["circumscribed scleroderma", "localised fibrosing scleroderma", "localised scleroderma (disorder) [ambiguous]", "localized fibrosing scleroderma", "localized morphoea", "localized scleroderma", "localized scleroderma (disorder) [ambiguous]", "morphea"], "xref": ["DOID:8472", "EFO:1001361", "GARD:0007058", "ICD10CM:L94.0", "ICD9:701.0", "MEDGEN:48586", "MESH:D012594", "MedDRA:10039712", "NCIT:C72069", "Orphanet:90289", "SCTID:201048007", "UMLS:C0036420", "icd11.foundation:1430740369"]}
{"category": ["biolink:Disease"], "description": "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.", "id": "MONDO:0019563", "name": "Crest syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome"], "xref": ["DOID:0060218", "GARD:0025139", "MEDGEN:60083", "MESH:D017675", "MedDRA:10011380", "NANDO:1201011", "NCIT:C70646", "Orphanet:90290", "SCTID:31848007", "UMLS:C0206138"]}
{"category": ["biolink:Disease"], "description": "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).", "id": "MONDO:0019565", "name": "Hereditary von willebrand disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital von willebrand's disease", "hereditary von Willebrand disease", "hereditary von Willebrand disease (hereditary or acquired)"], "xref": ["DOID:12531", "MEDGEN:1814986", "MESH:C531844", "MedDRA:10047715", "Orphanet:903", "SCTID:234446004", "UMLS:C5703318", "icd11.foundation:2112021600"]}
{"category": ["biolink:Disease"], "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.", "id": "MONDO:0019567", "name": "Ehlers-danlos syndrome, classic type, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["EDS I", "EDSCL1", "Ehlers-Danlos syndrome, classic type, 1", "Ehlers-Danlos syndrome, type I"], "xref": ["DOID:14720", "GARD:0025140", "MEDGEN:78660", "MESH:C536194", "NCIT:C125696", "OMIM:130000", "Orphanet:90309", "SCTID:83470009", "UMLS:C0268335"]}
{"category": ["biolink:Disease"], "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.", "id": "MONDO:0019568", "name": "Ehlers-danlos syndrome, classic type, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["EDS II", "EDSCL2", "Ehlers-Danlos syndrome, classic type, 2"], "xref": ["DOID:0080726", "GARD:0025141", "MEDGEN:120628", "MESH:C536195", "NCIT:C125697", "OMIM:130010", "Orphanet:90318", "UMLS:C0268336"]}
{"category": ["biolink:Disease"], "description": "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.", "id": "MONDO:0019569", "name": "Cockayne syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Cockayne syndrome A", "Cockayne syndrome caused by mutation in ERCC8", "Cockayne syndrome type 1", "Cockayne syndrome type I", "Cockayne syndrome type a", "Cockayne syndrome, type A", "ERCC8 Cockayne syndrome"], "xref": ["DOID:0080907", "GARD:0001415", "MEDGEN:155488", "NCIT:C135725", "OMIM:216400", "Orphanet:90321", "UMLS:C0751039", "icd11.foundation:1271368066"]}
{"category": ["biolink:Disease"], "description": "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.", "id": "MONDO:0019570", "name": "Cockayne syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Cockayne syndrome B", "Cockayne syndrome type 2", "Cockayne syndrome type B", "Cockayne syndrome type II", "Cockayne syndrome, type B"], "xref": ["DOID:0080908", "GARD:0001420", "MEDGEN:155487", "NCIT:C135726", "OMIM:133540", "Orphanet:90322", "UMLS:C0751038", "icd11.foundation:1604701958"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.", "id": "MONDO:0019571", "name": "Autosomal dominant cutis laxa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADCL", "cutis laxa, autosomal dominant"], "xref": ["DOID:0070142", "GARD:0001639", "MEDGEN:120630", "MESH:C562627", "Orphanet:90348", "SCTID:111388003", "UMLS:C0268350", "icd11.foundation:720393698"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).", "id": "MONDO:0019572", "name": "Autosomal recessive cutis laxa type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARCL1", "autosomal recessive cutis laxa type 1", "autosomal recessive cutis laxa with severe systemic involvement", "autosomal recessive cutis laxa, pulmonary emphysema type"], "xref": ["DOID:0070144", "GARD:0008480", "MEDGEN:78663", "MESH:C536225", "Orphanet:90349", "PMID:19401719", "SCTID:254222002", "UMLS:C0268351"]}
{"category": ["biolink:Disease"], "description": "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).", "id": "MONDO:0019573", "name": "Autosomal recessive cutis laxa type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ARCL2", "cutis laxa with joint laxity and developmental delay"], "xref": ["GARD:0019134", "MEDGEN:609467", "Orphanet:90350", "UMLS:C0432337"]}
{"category": ["biolink:Disease"], "description": "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.", "id": "MONDO:0019574", "name": "Secondary intestinal lymphangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019135", "MEDGEN:908114", "Orphanet:90363", "SCTID:717255008", "UMLS:C4273969", "icd11.foundation:1730894033"]}
{"category": ["biolink:Disease"], "description": "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.", "id": "MONDO:0019575", "name": "Hypotrichosis simplex of the scalp", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hypotrichosis simplex of the scalp"], "xref": ["GARD:0016789", "Orphanet:90368", "SCTID:717256009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019576", "name": "Telangiectasia macularis eruptiva perstans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019136", "ICD9:448.9", "MEDGEN:78094", "MedDRA:10043192", "Orphanet:90389", "SCTID:8214000", "UMLS:C0263402", "icd11.foundation:444226072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019577", "name": "Anonychia-onychodystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0000710", "MEDGEN:350767", "MESH:C536378", "Orphanet:90390", "UMLS:C1862840"]}
{"category": ["biolink:Disease"], "description": "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.", "id": "MONDO:0019578", "name": "Nodular lichen myxedematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["atypical tuberous myxedema of Jadassohn-Dosseker"], "xref": ["GARD:0019137", "MEDGEN:894327", "Orphanet:90393", "SCTID:717257000", "UMLS:C4273968"]}
{"category": ["biolink:Disease"], "description": "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.", "id": "MONDO:0019579", "name": "Discrete papular lichen myxedematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019138", "MEDGEN:898313", "Orphanet:90394", "SCTID:717258005", "UMLS:C4273967"]}
{"category": ["biolink:Disease"], "description": "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.", "id": "MONDO:0019580", "name": "Papular mucinosis of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cutaneous mucinosis of infancy"], "xref": ["GARD:0019139", "MEDGEN:909529", "Orphanet:90395", "SCTID:717259002", "UMLS:C4273966"]}
{"category": ["biolink:Disease"], "description": "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.", "id": "MONDO:0019581", "name": "Acral persistent papular mucinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019140", "ICD9:701.8", "MEDGEN:590586", "Orphanet:90396", "SCTID:238949006", "UMLS:C0406660", "icd11.foundation:712202928"]}
{"category": ["biolink:Disease"], "description": "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.", "id": "MONDO:0019582", "name": "Self-healing papular mucinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019141", "MEDGEN:590583", "Orphanet:90397", "UMLS:C0406657"]}
{"category": ["biolink:Disease"], "description": "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.", "id": "MONDO:0019583", "name": "Localized lichen myxedematosus with mixed features of different subtypes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019142", "MEDGEN:1843441", "Orphanet:90398", "UMLS:C5681465"]}
{"category": ["biolink:Disease"], "description": "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.", "id": "MONDO:0019584", "name": "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019143", "MEDGEN:1843442", "Orphanet:90399", "UMLS:C5681466"]}
{"category": ["biolink:Disease"], "description": "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.", "id": "MONDO:0019585", "name": "Scleromyxedema without monoclonal gammopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019144", "MEDGEN:1843341", "Orphanet:90400", "UMLS:C5681463"]}
{"category": ["biolink:Disease"], "description": "X-linked form of nonsyndromic deafness.", "id": "MONDO:0019586", "name": "X-linked nonsyndromic hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["X-linked isolated neurosensory hearing loss type DFN", "X-linked isolated sensorineural hearing loss type DFN", "X-linked non-syndromic neurosensory hearing loss type DFN", "X-linked non-syndromic sensorineural hearing loss type DFN"], "xref": ["DOID:0050566", "GARD:0016790", "MEDGEN:1825990", "Orphanet:90625", "UMLS:C5680192"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of nonsyndromic deafness.", "id": "MONDO:0019587", "name": "Autosomal dominant nonsyndromic hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["autosomal dominant isolated neurosensory hearing loss type DFNA", "autosomal dominant isolated sensorineural hearing loss type DFNA", "autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "autosomal dominant non-syndromic sensorineural hearing loss type DFNA", "autosomal dominant nonsyndromic hearing impairment", "autosomal dominant nonsyndromic hearing loss"], "xref": ["DOID:0050564", "GARD:0016791", "MEDGEN:1843285", "OMIMPS:124900", "Orphanet:90635", "UMLS:C5779548"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of nonsyndromic deafness.", "id": "MONDO:0019588", "name": "Hearing loss, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["hearing loss, autosomal recessive"], "xref": ["DOID:0050565", "GARD:0018117", "MEDGEN:337623", "MESH:C564609", "OMIM:607197", "OMIMPS:220290", "Orphanet:90636", "UMLS:C1846647"]}
{"category": ["biolink:Disease"], "description": "Insufficient production of all the anterior pituitary hormones.", "id": "MONDO:0019591", "name": "Panhypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["complete hypopituitarism"], "xref": ["DOID:9410", "GARD:0015020", "ICD9:253.2", "MEDGEN:69171", "MedDRA:10033662", "NCIT:C110940", "Orphanet:90695", "SCTID:32390006", "UMLS:C0242343", "icd11.foundation:1576287890"]}
{"category": ["biolink:Disease"], "description": "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).", "id": "MONDO:0019600", "name": "Xeroderma pigmentosum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kaposi dermatosis", "Kaposi disease", "XP", "angioma pigmentosum atrophicum", "atrophoderma pigmentosum", "melanosis lenticularis progressiva", "pigmented epitheliomatosis", "xeroderma of Kaposi", "xeroderma pigmentosum syndrome"], "xref": ["DOID:0050427", "GARD:0007910", "ICD10CM:Q82.1", "MEDGEN:21943", "MESH:D014983", "MedDRA:10048220", "NANDO:1200608", "NANDO:2100286", "NANDO:2201002", "NCIT:C3452", "NORD:1870", "OMIMPS:278700", "Orphanet:910", "SCTID:44600005", "UMLS:C0043346", "icd11.foundation:1243068849"]}
{"category": ["biolink:Disease"], "description": "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.", "id": "MONDO:0019603", "name": "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0025142", "MEDGEN:928492", "Orphanet:91133", "SCTID:722111004", "UMLS:C4302823"]}
{"category": ["biolink:Disease"], "description": "A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.", "id": "MONDO:0019604", "name": "Acquired monoclonal ig light chain-associated fanconi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acquired Fanconi syndrome secondary to monoclonal gammopathy", "acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome"], "xref": ["GARD:0019154", "MEDGEN:1375627", "Orphanet:91136", "SCTID:724099000", "UMLS:C4510369"]}
{"category": ["biolink:Disease"], "description": "A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.", "id": "MONDO:0019605", "name": "Immunotactoid or fibrillary glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Immunotactoid or fibrillary glomerulonephritis"], "xref": ["GARD:0012741", "MEDGEN:1842578", "Orphanet:91137", "UMLS:C5680195"]}
{"category": ["biolink:Disease"], "description": "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.", "id": "MONDO:0019606", "name": "Simple cryoglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cryoglobulinemia type 1"], "xref": ["GARD:0025143", "MEDGEN:1383731", "Orphanet:91139", "SCTID:723674005", "UMLS:C4510006"]}
{"category": ["biolink:Disease"], "description": "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.", "id": "MONDO:0019607", "name": "Unspecified juvenile idiopathic arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["unspecified JIA"], "xref": ["EFO:0009734", "GARD:0019155", "MEDGEN:1842681", "NANDO:2201061", "Orphanet:91140", "UMLS:C5680196"]}
{"category": ["biolink:Disease"], "description": "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.", "id": "MONDO:0019609", "name": "Zellweger spectrum disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ZS", "ZWS", "Zellweger spectrum disorders", "Zellweger syndrome", "cerebrohepatorenal syndrome"], "xref": ["DOID:905", "GARD:0007917", "ICD10CM:E71.510", "MEDGEN:21958", "MESH:D015211", "NANDO:1200760", "NCIT:C85239", "NORD:1876", "Orphanet:772", "Orphanet:912", "SCTID:88469006", "UMLS:C0043459"]}
{"category": ["biolink:Disease"], "description": "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.", "id": "MONDO:0019610", "name": "Zollinger-ellison syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Zollinger Ellison syndrome", "Zollinger-Ellison syndrome", "Zollinger-Ellison syndrome (disease)"], "xref": ["DOID:0050782", "EFO:0007549", "GARD:0007918", "HP:0002044", "MEDGEN:53129", "MESH:D015043", "MedDRA:10017852", "NCIT:C3453", "NORD:1877", "Orphanet:913", "SCTID:302824004", "SCTID:53132006", "UMLS:C0043515", "icd11.foundation:375645550"]}
{"category": ["biolink:Disease"], "description": "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.", "id": "MONDO:0019611", "name": "Tsh-secreting pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TSH producing adenoma of pituitary", "TSH producing adenoma of pituitary gland", "TSH producing adenoma of the pituitary", "TSH producing adenoma of the pituitary gland", "TSH producing pituitary adenoma", "TSH producing pituitary gland adenoma", "TSH secreting adenoma of pituitary", "TSH secreting adenoma of pituitary gland", "TSH secreting adenoma of the pituitary", "TSH secreting adenoma of the pituitary gland", "TSH secreting pituitary adenoma", "TSH secreting pituitary gland adenoma", "TSH-oma", "TSH-producing adenoma", "TSH-producing pituitary gland adenoma", "TSHoma", "pituitary thyrotrophic adenoma", "thyroid stimulating hormone producing adenoma of pituitary", "thyroid stimulating hormone producing adenoma of pituitary gland", "thyroid stimulating hormone producing adenoma of the pituitary", "thyroid stimulating hormone producing adenoma of the pituitary gland", "thyroid stimulating hormone producing pituitary adenoma", "thyroid stimulating hormone producing pituitary gland adenoma", "thyroid stimulating hormone secreting adenoma of pituitary", "thyroid stimulating hormone secreting adenoma of pituitary gland", "thyroid stimulating hormone secreting adenoma of the pituitary", "thyroid stimulating hormone secreting adenoma of the pituitary gland", "thyroid stimulating hormone secreting pituitary adenoma", "thyroid stimulating hormone secreting pituitary gland adenoma", "thyroid stimulating hormone-producing adenoma", "thyroid stimulating hormone-secreting pituitary adenoma", "thyrotrope adenoma", "thyrotroph adenoma", "thyrotrophic adenoma", "thyrotropin producing pituitary gland adenoma", "thyrotropinoma"], "xref": ["GARD:0019157", "MEDGEN:87550", "NANDO:1200377", "NCIT:C8011", "Orphanet:91347", "UMLS:C0346303", "icd11.foundation:125504731"]}
{"category": ["biolink:Disease"], "description": "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).", "id": "MONDO:0019612", "name": "Functioning gonadotropic adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["functioning pituitary gonadotropic adenoma", "gonadotroph adenoma"], "xref": ["GARD:0019158", "MEDGEN:577353", "NCIT:C45915", "Orphanet:91348", "SCTID:254960002", "UMLS:C0346304"]}
{"category": ["biolink:Disease"], "description": "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.", "id": "MONDO:0019613", "name": "Non-functioning pituitary adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NFPA", "functionless adenoma of pituitary", "functionless adenoma of pituitary gland", "functionless adenoma of the pituitary", "functionless adenoma of the pituitary gland", "functionless pituitary adenoma", "functionless pituitary gland adenoma", "non-functioning adenoma of pituitary", "non-functioning adenoma of pituitary gland", "non-functioning adenoma of the pituitary", "non-functioning adenoma of the pituitary gland", "non-functioning pituitary adenoma", "non-functioning pituitary gland adenoma", "non-secretory adenoma of pituitary", "non-secretory adenoma of pituitary gland", "non-secretory adenoma of the pituitary", "non-secretory adenoma of the pituitary gland", "non-secretory pituitary adenoma", "non-secretory pituitary gland adenoma", "nonfunctional pituitary gland adenoma", "silent pituitary gland adenoma"], "xref": ["DOID:5715", "EFO:0008516", "GARD:0019159", "NCIT:C4348", "Orphanet:91349", "SCTID:254962005", "icd11.foundation:1197752358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019614", "name": "Pituitary deficiency due to rathke's pouch cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019160", "MEDGEN:1676440", "Orphanet:91350", "UMLS:C5190782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019615", "name": "Pituitary dermoid and epidermoid cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019161", "MEDGEN:1674582", "Orphanet:91351", "UMLS:C5190781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019617", "name": "Pituitary deficiency due to empty sella turcica syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hypopituitarism due to empty sella turcica syndrome"], "xref": ["GARD:0019163", "MEDGEN:902244", "Orphanet:91354", "SCTID:715668008", "UMLS:C4275064", "icd11.foundation:309067714"]}
{"category": ["biolink:Disease"], "description": "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.", "id": "MONDO:0019618", "name": "Sheehan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Sheehan's syndrome", "postpartum hypopituitarism"], "xref": ["DOID:9476", "GARD:0007630", "MEDGEN:116569", "MedDRA:10036297", "NCIT:C35300", "Orphanet:91355", "SCTID:290653008", "UMLS:C0242342", "icd11.foundation:421687193"]}
{"category": ["biolink:Disease"], "description": "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.", "id": "MONDO:0019620", "name": "Congenital esophageal diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital esophageal pouch"], "xref": ["GARD:0019165", "ICD10CM:Q39.6", "ICD9:750.4", "MEDGEN:539704", "Orphanet:91358", "SCTID:204667006", "UMLS:C0266133", "icd11.foundation:42183618"]}
{"category": ["biolink:Disease"], "description": "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).", "id": "MONDO:0019621", "name": "Chronic pneumonitis of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CPI"], "xref": ["GARD:0019166", "MEDGEN:846677", "Orphanet:91359", "SCTID:708026002", "UMLS:C3872848", "icd11.foundation:1821220054"]}
{"category": ["biolink:Disease"], "description": "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.", "id": "MONDO:0019622", "name": "Non-specific interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NSIP", "non-specific idiopathic interstitial pneumonia", "nonspecific interstitial pneumonia"], "xref": ["DOID:2801", "GARD:0019167", "ICD9:516.8", "MEDGEN:220936", "NANDO:1200419", "NCIT:C35717", "Orphanet:91364", "SCTID:129452008", "UMLS:C1290344"]}
{"category": ["biolink:Disease"], "description": "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.", "id": "MONDO:0019623", "name": "Hereditary angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["HAE", "familial angioneurotic edema", "familial angioneurotic oedema", "hereditary angioedema", "hereditary angioneurotic edema", "hereditary angioneurotic oedema", "hereditary bradykinine-induced angioedema", "hereditary non histamine-induced angioedema"], "xref": ["DOID:14735", "GARD:0005979", "MEDGEN:9229", "MESH:D054179", "MedDRA:10019860", "NANDO:1200365", "NANDO:2200795", "NCIT:C84758", "OMIMPS:106100", "Orphanet:91378", "SCTID:82966003", "UMLS:C0019243", "icd11.foundation:795969334"]}
{"category": ["biolink:Disease"], "description": "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.", "id": "MONDO:0019624", "name": "Acquired angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AAE", "acquired C1 inhibitor deficiency", "acquired angioedema", "acquired angioneurotic edema", "acquired angioneurotic oedema", "acquired bradykinine-induced angioedema", "acquired non histamine-induced angioedema"], "xref": ["DOID:0080941", "GARD:0008605", "MEDGEN:419486", "MESH:C538173", "Orphanet:91385", "UMLS:C2931758", "icd11.foundation:1078767412"]}
{"category": ["biolink:Disease"], "description": "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.", "id": "MONDO:0019625", "name": "Familial thoracic aortic aneurysm and aortic dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["Erdheim disease", "FTAAD", "familial TAAD", "familial aortic dissection", "familial non-syndromic TAAD", "familial thoracic aortic aneurysm and aortic dissection", "nonsyndromic HTAD", "nonsyndromic familial thoracic aortic aneurysm and dissection", "nonsyndromic heritable thoracic aortic disease", "ns-FTAAD", "nsHTAD"], "xref": ["GARD:0002249", "ICD9:447.9", "MEDGEN:1644766", "OMIMPS:607086", "Orphanet:91387", "SCTID:45894003", "SCTID:764965000", "UMLS:C4707243"]}
{"category": ["biolink:Disease"], "description": "Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.", "id": "MONDO:0019626", "name": "Isolated ankyloblepharon filiforme adnatum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019168", "MEDGEN:227001", "Orphanet:91397", "UMLS:C1302999", "icd11.foundation:1002292151"]}
{"category": ["biolink:Disease"], "description": "Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.", "id": "MONDO:0019627", "name": "Isolated congenital alacrima", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nonsyndromic congenital alacrima"], "xref": ["GARD:0016799", "MEDGEN:896261", "Orphanet:91416", "SCTID:717262004", "UMLS:C4273963"]}
{"category": ["biolink:Disease"], "description": "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.", "id": "MONDO:0019628", "name": "Rieger anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016482", "MEDGEN:78558", "MedDRA:10059198", "Orphanet:91483", "UMLS:C0265341"]}
{"category": ["biolink:Disease"], "description": "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.", "id": "MONDO:0019629", "name": "Sclerocornea", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated congenital sclerocornea", "sclerocornea", "sclerocornea (disease)"], "xref": ["DOID:0060252", "GARD:0016800", "HP:0000647", "MEDGEN:344000", "MESH:C565209", "Orphanet:91490", "UMLS:C1853235", "icd11.foundation:995798428"]}
{"category": ["biolink:Disease"], "description": "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.", "id": "MONDO:0019630", "name": "Congenital ectropion uveae", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019169", "MEDGEN:724517", "Orphanet:91491", "UMLS:C1303012"]}
{"category": ["biolink:Disease"], "description": "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)", "id": "MONDO:0019631", "name": "Persistent hyperplastic primary vitreous", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PFVS", "PHPV", "congenital retinal detachment", "ncRNA disease", "non-syndromic congenital retinal non-attachment", "persistent fetal vasculature syndrome", "persistent foetal vasculature syndrome"], "xref": ["DOID:0060282", "GARD:0016803", "MEDGEN:120583", "MESH:D054514", "NCIT:C161554", "OMIMPS:221900", "Orphanet:91495", "SCTID:314270008", "UMLS:C0266568", "icd11.foundation:1011137326"]}
{"category": ["biolink:Disease"], "description": "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.", "id": "MONDO:0019632", "name": "Lyme disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Borrelia", "Borrelia burgdorferi infection", "Borreliella burgdorferi caused disease or disorder", "Borreliella burgdorferi disease or disorder", "Borreliella burgdorferi infectious disease", "Lyme borreliosis", "Lyme disease"], "xref": ["DOID:11729", "EFO:0008510", "GARD:0027870", "ICD10CM:A69.2", "ICD9:088.81", "MEDGEN:44213", "MESH:D008193", "MedDRA:10025169", "NCIT:C45161", "Orphanet:91546", "SCTID:48982009", "UMLS:C0024198", "icd11.foundation:1600014919"]}
{"category": ["biolink:Disease"], "description": "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.", "id": "MONDO:0019633", "name": "Relapsing fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:13034", "GARD:0019171", "ICD10CM:A68", "ICD9:087", "ICD9:087.9", "MEDGEN:48397", "MESH:D012061", "MedDRA:10038300", "Orphanet:91547", "SCTID:420079008", "UMLS:C0035021", "icd11.foundation:965498095"]}
{"category": ["biolink:Disease"], "description": "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.", "id": "MONDO:0019634", "name": "Familial nasal acilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002254", "MEDGEN:1647725", "Orphanet:922", "SCTID:763532008", "UMLS:C4706505"]}
{"category": ["biolink:Disease"], "description": "A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.", "id": "MONDO:0019635", "name": "Idiopathic achalasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["achalasia cardia", "idiopathic achalasia of esophagus", "idiopathic achalasia of oesophagus", "primary achalasia"], "xref": ["GARD:0005708", "MEDGEN:798339", "MedDRA:10036669", "Orphanet:930", "SCTID:715192004", "UMLS:C0859976", "icd11.foundation:396058084"]}
{"category": ["biolink:Disease"], "description": "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.", "id": "MONDO:0019636", "name": "Renal agenesis, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["congenital single kidney", "congenital solitary kidney", "unilateral renal agenesis"], "xref": ["GARD:0016804", "ICD10CM:Q60.0", "MEDGEN:75607", "MedDRA:10053624", "NCIT:C101220", "Orphanet:93100", "UMLS:C0266294", "icd11.foundation:760295498"]}
{"category": ["biolink:Disease"], "description": "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.", "id": "MONDO:0019637", "name": "Renal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["renal hypoplasia", "renal hypoplasia (disease)"], "xref": ["DOID:0080204", "GARD:0019172", "HP:0000089", "MEDGEN:120571", "MedDRA:10049102", "NANDO:2200155", "Orphanet:93101", "SCTID:32659003", "UMLS:C0266295"]}
{"category": ["biolink:Disease"], "description": "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.", "id": "MONDO:0019638", "name": "Renal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["renal dysplasia", "renal dysplasia (disease)"], "xref": ["GARD:0019173", "HP:0000110", "ICD10CM:Q61.4", "MEDGEN:760690", "NANDO:2200161", "Orphanet:93108", "UMLS:C3536714", "icd11.foundation:921320354"]}
{"category": ["biolink:Disease"], "description": "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.", "id": "MONDO:0019639", "name": "Congenital megacalycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019174", "ICD9:753.3", "MEDGEN:1782490", "NANDO:2200177", "Orphanet:93109", "SCTID:85901000", "UMLS:C5545379", "icd11.foundation:954627950"]}
{"category": ["biolink:Disease"], "description": "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.", "id": "MONDO:0019640", "name": "Posterior urethral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PUV", "Posterior Urethral Valves", "congenital posterior urethral valves"], "xref": ["GARD:0007439", "ICD10CM:Q64.2", "ICD9:753.8", "MEDGEN:451008", "MedDRA:10036369", "NCIT:C99021", "NORD:242851", "Orphanet:93110", "SCTID:253900005", "UMLS:C0238506"]}
{"category": ["biolink:Disease"], "description": "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.", "id": "MONDO:0019641", "name": "Pauci-immune glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019175", "MEDGEN:575439", "Orphanet:93126", "UMLS:C0343196", "icd11.foundation:1359757645"]}
{"category": ["biolink:Disease"], "description": "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.", "id": "MONDO:0019642", "name": "Vitamin d-dependent rickets, type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HVDRR", "VDDR II", "VDDR2", "VDRR II", "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor", "hereditary vitamin D-resistant rickets", "hypocalcemic vitamin D-resistant rickets", "vitamin D dependent rickets 2", "vitamin D receptor deficiency", "vitamin D-dependent rickets type II", "vitamin D-dependent rickets, type 2", "vitamin D-resistant rickets type II"], "xref": ["GARD:0016805", "MEDGEN:760752", "NANDO:1200783", "NCIT:C131077", "Orphanet:93160", "SCTID:72831007", "UMLS:C3536983", "icd11.foundation:2041886796"]}
{"category": ["biolink:Disease"], "description": "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.", "id": "MONDO:0019643", "name": "Transient pseudohypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TPHA"], "xref": ["GARD:0019176", "MEDGEN:900190", "Orphanet:93164", "SCTID:717263009", "UMLS:C4273962", "icd11.foundation:225064822"]}
{"category": ["biolink:Disease"], "description": "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.", "id": "MONDO:0019644", "name": "Renal dysplasia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["unilateral renal dysplasia"], "xref": ["GARD:0019177", "HP:0008718", "MEDGEN:140916", "Orphanet:93172", "UMLS:C0431697"]}
{"category": ["biolink:Disease"], "description": "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.", "id": "MONDO:0019645", "name": "Renal dysplasia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["bilateral renal dysplasia"], "xref": ["GARD:0019178", "HP:0012582", "MEDGEN:609101", "Orphanet:93173", "SCTID:204950001", "UMLS:C0431698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019646", "name": "Unilateral congenital megacalycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019179", "MEDGEN:1842948", "Orphanet:93176", "UMLS:C5681456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019647", "name": "Congenital bilateral megacalycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019180", "MEDGEN:1842447", "Orphanet:93177", "UMLS:C5681455"]}
{"category": ["biolink:Disease"], "description": "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.", "id": "MONDO:0019648", "name": "Achondrogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080043", "GARD:0002882", "ICD10CM:Q77.0", "MEDGEN:84", "MESH:C579878", "MedDRA:10066122", "NCIT:C84527", "NORD:710", "OMIMPS:200600", "Orphanet:932", "SCTID:2391001", "UMLS:C0001079", "icd11.foundation:103965243"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019649", "name": "Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "synonym": ["idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis"], "xref": ["Orphanet:93206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019650", "name": "Idiopathic steroid-sensitive nephrotic syndrome with minimal change", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "synonym": ["steroid-sensitive MCNS"], "xref": ["Orphanet:93207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019651", "name": "Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["Orphanet:93209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019652", "name": "Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["Orphanet:93214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019653", "name": "Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["Orphanet:93216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019654", "name": "Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["NANDO:2200111", "Orphanet:93217"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019655", "name": "Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "synonym": ["sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"], "xref": ["Orphanet:93218"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019656", "name": "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["Orphanet:93220"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.", "id": "MONDO:0019659", "name": "Pfeiffer syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Pfeiffer syndrome type 1", "classic Pfeiffer syndrome"], "xref": ["GARD:0016807", "MEDGEN:1726699", "Orphanet:93258", "UMLS:C5438812", "icd11.foundation:490354109"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.", "id": "MONDO:0019660", "name": "Pfeiffer syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016808", "MEDGEN:1761826", "Orphanet:93259", "UMLS:C5438849", "icd11.foundation:531949642"]}
{"category": ["biolink:Disease"], "description": "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.", "id": "MONDO:0019661", "name": "Pfeiffer syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016809", "MEDGEN:1748161", "Orphanet:93260", "UMLS:C5438850", "icd11.foundation:1910513449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019662", "name": "Short rib-polydactyly syndrome, majewski type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["short rib-polydactyly syndrome type 2"], "xref": ["GARD:0004833", "ICD9:756.3", "Orphanet:93269", "SCTID:72922008", "icd11.foundation:132740256"]}
{"category": ["biolink:Disease"], "description": "Fibrous dysplasia of bone involving only one bone.", "id": "MONDO:0019665", "name": "Monostotic fibrous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Jaffe-Lichtenstein disease", "monostotic fibrous dysplasia", "monostotic fibrous dysplasia (disease)", "monostotic fibrous dysplasia of bone"], "xref": ["GARD:0019181", "HP:0010736", "ICD9:733.29", "MEDGEN:42020", "MESH:D005358", "NCIT:C53971", "Orphanet:93277", "SCTID:89859004", "UMLS:C0016064", "icd11.foundation:1033883899"]}
{"category": ["biolink:Disease"], "description": "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.", "id": "MONDO:0019666", "name": "Spondyloepimetaphyseal dysplasia, papss2 type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachyolmia 4 with mild epiphyseal and metaphyseal changes", "spondyloepimetaphyseal dysplasia, Pakistani type"], "xref": ["DOID:0050812", "GARD:0016813", "MEDGEN:440564", "OMIM:612847", "Orphanet:93282", "SCTID:719172003", "UMLS:C2748516"]}
{"category": ["biolink:Disease"], "description": "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.", "id": "MONDO:0019667", "name": "Spondyloepiphyseal dysplasia tarda", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112284", "GARD:0025144", "ICD9:756.9", "NORD:1732", "Orphanet:93284", "SCTID:51952004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019668", "name": "Adenoma of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreatic adenoma"], "xref": ["GARD:0004204", "MEDGEN:256157", "MESH:C538110", "MedDRA:10058902", "Orphanet:93292", "SCTID:208061000119101", "UMLS:C1142432"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019669", "name": "Hypochondrogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080044", "GARD:0016815", "MEDGEN:107448", "MESH:C563007", "NANDO:2201346", "Orphanet:93297", "UMLS:C0542428", "icd11.foundation:1494246635"]}
{"category": ["biolink:Disease"], "description": "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.", "id": "MONDO:0019670", "name": "Ulnar hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital longitudinal deficiency of the ulna", "ulnar clubhand", "ulnar longitudinal meromelia"], "xref": ["GARD:0019182", "ICD9:755.59", "MEDGEN:539346", "Orphanet:93320", "SCTID:21893008", "UMLS:C0265583", "icd11.foundation:1136383237"]}
{"category": ["biolink:Disease"], "description": "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.", "id": "MONDO:0019671", "name": "Radial hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital longitudinal deficiency of the radius", "radial clubhand", "radial longitidinal meromelia", "radial ray agenesis"], "xref": ["GARD:0000225", "ICD10CM:Q71.4", "ICD9:755.59", "MEDGEN:539344", "Orphanet:93321", "SCTID:48008009", "UMLS:C0265581", "icd11.foundation:653269137"]}
{"category": ["biolink:Disease"], "description": "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.", "id": "MONDO:0019672", "name": "Fibular hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital longitudinal deficiency of the fibula", "fibular longitudinal meromelia"], "xref": ["GARD:0008659", "MEDGEN:539380", "Orphanet:93323", "UMLS:C0265634", "icd11.foundation:915482054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019673", "name": "Postaxial polydactyly type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAPA", "postaxial polydactyly type A", "postaxial polydactyly type A (disease)"], "xref": ["GARD:0016817", "HP:0005696", "MEDGEN:854350", "Orphanet:93334", "SCTID:715704001", "UMLS:C3887487", "icd11.foundation:476330894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019674", "name": "Postaxial polydactyly type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PAPB"], "xref": ["GARD:0016818", "MEDGEN:357425", "Orphanet:93335", "SCTID:715707008", "UMLS:C1868120", "icd11.foundation:366939273"]}
{"category": ["biolink:Disease"], "description": "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.", "id": "MONDO:0019675", "name": "Spondyloepimetaphyseal dysplasia with joint laxity", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD-JL", "SEMDJL", "spondyloepimetaphyseal dysplasia with joint laxity"], "xref": ["DOID:0112197", "GARD:0004982", "ICD9:719.80", "ICD9:756.9", "MEDGEN:98148", "MESH:C562968", "OMIMPS:271640", "Orphanet:93359", "SCTID:254100000", "UMLS:C0432243"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.", "id": "MONDO:0019676", "name": "Brachydactyly type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000985", "MEDGEN:722046", "Orphanet:93383", "SCTID:389168002", "UMLS:C1300267", "icd11.foundation:1534264812"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.", "id": "MONDO:0019677", "name": "Brachydactyly type e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0000987", "MEDGEN:939359", "Orphanet:93387", "UMLS:C4315392", "icd11.foundation:712007423"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.", "id": "MONDO:0019678", "name": "Brachydactyly type a5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0000982", "MEDGEN:929661", "MESH:C537091", "OMIM:112900", "Orphanet:93389", "SCTID:720570007", "UMLS:C4303992", "icd11.foundation:291957825"]}
{"category": ["biolink:Disease"], "description": "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.", "id": "MONDO:0019679", "name": "Brachydactyly type a7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brachydactyly, Smorgasbord type"], "xref": ["GARD:0000984", "MEDGEN:929660", "Orphanet:93397", "SCTID:720571006", "UMLS:C4303991", "icd11.foundation:1487696553"]}
{"category": ["biolink:Disease"], "description": "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.", "id": "MONDO:0019680", "name": "Genochondromatosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016820", "MEDGEN:1374044", "Orphanet:93398", "SCTID:725904009", "UMLS:C4511481", "icd11.foundation:1033432522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019681", "name": "Juvenile sialidosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["dysmorphic sialidosis, juvenile form"], "xref": ["GARD:0019183", "MEDGEN:1825999", "Orphanet:93399", "SCTID:111383007", "UMLS:C5681598", "icd11.foundation:1730484030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019682", "name": "Congenital sialidosis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019184", "MEDGEN:1843300", "Orphanet:93400", "SCTID:27642008", "UMLS:C5681599", "icd11.foundation:1994237121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019685", "name": "Fgfr3-related chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019185", "MEDGEN:1842866", "Orphanet:93420", "UMLS:C5681604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019690", "name": "Filamin-related bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["bone filaminopathy"], "xref": ["GARD:0019190", "MEDGEN:1842239", "Orphanet:93425", "UMLS:C5680280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019691", "name": "Short rib dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["SRP", "short-rib dysplasia (with or without polydactyly)"], "xref": ["GARD:0016822", "ICD9:756.3", "MEDGEN:609403", "Orphanet:93426", "SCTID:254050009", "UMLS:C0432195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019694", "name": "Spondylodysplastic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019193", "MEDGEN:1843363", "Orphanet:93434", "UMLS:C4736216", "icd11.foundation:329165933"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019695", "name": "Acromelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019194", "MEDGEN:1843369", "Orphanet:93436", "UMLS:C4736195", "icd11.foundation:177141175"]}
{"category": ["biolink:Disease"], "description": "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type", "id": "MONDO:0019696", "name": "Acromesomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080049", "GARD:0000006", "MEDGEN:1710812", "MESH:C535658", "NORD:724", "OMIMPS:602875", "Orphanet:93437", "UMLS:C5235036", "icd11.foundation:2002361676"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019698", "name": "Bent bone dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019196", "ICD9:756.59", "MEDGEN:609415", "Orphanet:93439", "SCTID:254095002", "UMLS:C0432238"]}
{"category": ["biolink:Disease"], "description": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.", "id": "MONDO:0019701", "name": "Chondrodysplasia punctata", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CDP", "chondrodysplasia calcificans congenita", "chondrodysplasia punctata (stippled epiphyses) Group", "chondrodysplasia punctata congenita"], "xref": ["DOID:2581", "GARD:0008542", "ICD10CM:Q77.3", "ICD9:756.59", "MEDGEN:3052", "MESH:D002806", "NANDO:2201017", "NCIT:C84632", "Orphanet:93442", "SCTID:360507004", "UMLS:C0008445", "icd11.foundation:1923035846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019702", "name": "Neonatal osteosclerotic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019199", "MEDGEN:721998", "Orphanet:93443", "SCTID:389236000", "UMLS:C1300205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019707", "name": "Primary osteolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019204", "MEDGEN:1843089", "Orphanet:93449", "UMLS:C5559806", "icd11.foundation:285636466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019713", "name": "Non-syndromic limb reduction defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["non-syndromic limb hypoplasia", "nonsyndromic limb reduction defect"], "xref": ["GARD:0019210", "MEDGEN:1842256", "Orphanet:93457", "UMLS:C5680277"]}
{"category": ["biolink:Disease"], "description": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.", "id": "MONDO:0019716", "name": "Overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019213", "MEDGEN:458929", "NCIT:C94828", "Orphanet:93460", "UMLS:C2986703", "icd11.foundation:2113355045"]}
{"category": ["biolink:Disease"], "description": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.", "id": "MONDO:0019719", "name": "Congenital anomaly of kidney and urinary tract", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CAKUT", "congenital anomalies of kidney and urinary tract", "congenital anomaly of kidney and urinary tract", "renal or urinary tract malformation"], "xref": ["DOID:0080205", "GARD:0019216", "MEDGEN:369894", "MESH:C566906", "OMIMPS:610805", "Orphanet:93545", "UMLS:C1968949"]}
{"category": ["biolink:Disease"], "description": "A disease involving the renal glomerulus.", "id": "MONDO:0019722", "name": "Glomerular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["disease of renal glomerulus", "disease or disorder of renal glomerulus", "disorder of renal glomerulus", "glomerulopathy", "renal glomerulus disease", "renal glomerulus disease or disorder"], "xref": ["EFO:1002049", "GTR:AN0966176", "ICD10CM:N00-N08", "MEDGEN:451033", "NCIT:C120887", "Orphanet:93548", "SCTID:197679002", "UMLS:C0268731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019725", "name": "Pediatric systemic lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SLE, paediatric onset", "SLE, pediatric onset"], "xref": ["GARD:0019219", "MEDGEN:698153", "Orphanet:93552", "UMLS:C1274834"]}
{"category": ["biolink:Disease"], "description": "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).", "id": "MONDO:0019726", "name": "Type ii mixed cryoglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MC type II"], "xref": ["GARD:0019220", "MEDGEN:1842376", "Orphanet:93554", "UMLS:C5680264"]}
{"category": ["biolink:Disease"], "description": "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.", "id": "MONDO:0019727", "name": "Mixed cryoglobulinemia type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MC type III"], "xref": ["GARD:0019221", "MEDGEN:1843066", "Orphanet:93555", "UMLS:C5680263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019728", "name": "Heavy chain deposition disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HCDD"], "xref": ["GARD:0019222", "MEDGEN:232591", "NCIT:C7339", "Orphanet:93556", "UMLS:C1333947", "icd11.foundation:2018948190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019729", "name": "Light and heavy chain deposition disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LHCDD"], "xref": ["GARD:0019223", "MEDGEN:1684811", "NCIT:C158965", "Orphanet:93557", "UMLS:C5204117", "icd11.foundation:1815409370"]}
{"category": ["biolink:Disease"], "description": "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.", "id": "MONDO:0019730", "name": "Light chain deposition disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Bence Jones myeloma", "LCDD", "Light chain disease", "Light chain gammopathy"], "xref": ["GARD:0006906", "MEDGEN:65953", "NCIT:C7727", "Orphanet:93558", "SCTID:373604002", "UMLS:C0238239", "icd11.foundation:1612001446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019731", "name": "Aapoai amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["apolipoprotein A-I amyloidosis", "familial amyloid nephropathy due to apolipoprotein A-I variant", "familial renal amyloidosis due to apolipoprotein A-I variant", "hereditary amyloid nephropathy due to apolipoprotein A-I variant", "hereditary renal amyloidosis due to apolipoprotein A-I variant"], "xref": ["GARD:0019224", "MEDGEN:1842920", "NANDO:1201062", "Orphanet:93560", "UMLS:C5680269"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019732", "name": "Alys amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial amyloid nephropathy due to lysozyme variant", "familial renal amyloidosis due to lysozyme variant", "hereditary amyloid nephropathy due to lysozyme variant", "hereditary renal amyloidosis due to lysozyme variant", "lysozyme amyloidosis"], "xref": ["GARD:0019225", "MEDGEN:1842307", "Orphanet:93561", "UMLS:C5680270", "icd11.foundation:831687561"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019733", "name": "Afib amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["familial amyloid nephropathy due to fibrinogen A alpha-chain variant", "fibrinogen A alpha-chain amyloidosis", "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant", "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"], "xref": ["GARD:0019226", "MEDGEN:1826152", "Orphanet:93562", "UMLS:C5680267", "icd11.foundation:141110588"]}
{"category": ["biolink:Disease"], "description": "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.", "id": "MONDO:0019734", "name": "Juvenile polymyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JPM", "juvenile PM"], "xref": ["EFO:1001988", "GARD:0012742", "MEDGEN:819736", "NANDO:2200419", "NCIT:C114358", "Orphanet:93568", "SCTID:738526005", "UMLS:C3826988", "icd11.foundation:633330307"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.", "id": "MONDO:0019735", "name": "Polymyalgia rheumatica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["polymyalgia rheumatica", "rhizomelic pseudopolyarthritis"], "xref": ["DOID:853", "EFO:0008518", "GARD:0004704", "ICD10CM:M35.3", "ICD9:725", "MEDGEN:19393", "MESH:D011111", "MedDRA:10068240", "NCIT:C85018", "NORD:1593", "Orphanet:93569", "SCTID:65323003", "UMLS:C0032533", "icd11.foundation:103940897"]}
{"category": ["biolink:Disease"], "description": "A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.", "id": "MONDO:0019736", "name": "Dense deposit disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Mesangiocapillary glomerulonephritis type 2", "membranoproliferative glomerulonephritis type 2"], "xref": ["GARD:0008555", "MEDGEN:124345", "NANDO:1200739", "NCIT:C123039", "Orphanet:93571", "SCTID:722760002", "UMLS:C0268743"]}
{"category": ["biolink:Disease"], "description": "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.", "id": "MONDO:0019737", "name": "Thrombotic microangiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019227", "ICD10CM:M31.1", "ICD9:446.6", "MEDGEN:403479", "MESH:D057049", "MedDRA:10043645", "NCIT:C62605", "Orphanet:93573", "SCTID:126729006", "UMLS:C2717961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019738", "name": "Atypical hemolytic-uremic syndrome with h factor anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["D-HUS with H factor anomaly", "aHUS with H factor anomaly", "atypical HUS with H factor anomaly", "hemolytic-uremic syndrome without diarrhea with H factor anomaly", "hemolytic-uremic syndrome without diarrhoea with H factor anomaly"], "xref": ["Orphanet:93579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019739", "name": "Atypical hemolytic-uremic syndrome with anti-factor h antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["D-HUS with anti-factor H antibodies", "aHUS with anti-factor H antibodies", "atypical HUS with anti-factor H antibodies", "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies", "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies"], "xref": ["GARD:0016823", "MEDGEN:1825998", "Orphanet:93581", "UMLS:C5680286"]}
{"category": ["biolink:Disease"], "description": "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.", "id": "MONDO:0019740", "name": "Acquired thrombotic thrombocytopenic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["acquired ADAMTS13 deficiency", "acquired TTP", "acquired thrombotic thrombocytopenic purpura", "autoimmune thrombotic thrombocytopenic purpura"], "xref": ["GARD:0004607", "MEDGEN:391723", "MESH:C536901", "NANDO:1200318", "NANDO:1200319", "NCIT:C131653", "Orphanet:93585", "SCTID:438476003", "UMLS:C2584778"]}
{"category": ["biolink:Disease"], "description": "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0019741", "name": "Familial cystic renal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["hereditary cystic kidney disease"], "xref": ["GARD:0019228", "MEDGEN:1842297", "Orphanet:93587", "UMLS:C5680285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019742", "name": "Late-onset nephronophthisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016824", "MEDGEN:1842314", "Orphanet:93589", "UMLS:C5681620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019745", "name": "Cystinuria type a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016827", "MEDGEN:347441", "MESH:C565652", "Orphanet:93612", "UMLS:C1857388", "icd11.foundation:1172657361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019746", "name": "Cystinuria type b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016828", "MEDGEN:347442", "Orphanet:93613", "UMLS:C1857389", "icd11.foundation:491796307"]}
{"category": ["biolink:Disease"], "description": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.", "id": "MONDO:0019751", "name": "Autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["DOID:0051000", "ICD10CM:M04-M04", "MEDGEN:855741", "MedDRA:10072220", "NANDO:2100156", "NCIT:C119050", "Orphanet:93665", "UMLS:C3890737"]}
{"category": ["biolink:Disease"], "description": "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.", "id": "MONDO:0019752", "name": "Pediatric castleman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:93682"]}
{"category": ["biolink:Disease"], "description": "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.", "id": "MONDO:0019753", "name": "Localized castleman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["localised Angiofollicular lymphoid hyperplasia", "localized Angiofollicular lymphoid hyperplasia", "localized Castleman disease"], "xref": ["GARD:0006005", "MEDGEN:858176", "NCIT:C115200", "Orphanet:93685", "UMLS:C3898582"]}
{"category": ["biolink:Disease"], "description": "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.", "id": "MONDO:0019754", "name": "Multicentric castleman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HHV-8-associated multicentric Castleman disease", "Human herpesvirus-8-associated multicentric Castleman disease", "MCD", "multicentric Angiofollicular lymphoid hyperplasia", "multicentric Castleman's disease"], "xref": ["DOID:0111152", "GARD:0022310", "MEDGEN:233197", "NCIT:C27855", "Orphanet:570438", "Orphanet:93686", "UMLS:C1334815", "icd11.foundation:1590444463"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of embryonic morphogenesis.", "id": "MONDO:0019755", "name": "Developmental defect during embryogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["congenital malformation syndrome", "developmental defect during embryogenesis", "disorder of embryonic morphogenesis", "embryonic morphogenesis disease", "malformation syndrome", "rare developmental defect during embryogenesis"], "xref": ["ICD9:759.7", "MEDGEN:1825997", "NCIT:C99267", "Orphanet:93890", "SCTID:400038003", "UMLS:C5680284"]}
{"category": ["biolink:Disease"], "description": "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.", "id": "MONDO:0019756", "name": "Lobar holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016830", "MEDGEN:96559", "Orphanet:93924", "SCTID:253136007", "UMLS:C0431362", "icd11.foundation:121649206"]}
{"category": ["biolink:Disease"], "description": "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.", "id": "MONDO:0019757", "name": "Alobar holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016831", "MEDGEN:140909", "Orphanet:93925", "SCTID:253137003", "UMLS:C0431363", "icd11.foundation:381193163"]}
{"category": ["biolink:Disease"], "description": "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.", "id": "MONDO:0019759", "name": "Epispadias", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["epispadias", "epispadias (disease)"], "xref": ["GARD:0019235", "HP:0000039", "ICD10CM:Q64.0", "ICD9:752.62", "MEDGEN:41839", "MESH:D004842", "MedDRA:10015088", "NCIT:C98923", "Orphanet:93928", "SCTID:406476007", "UMLS:C0014588", "icd11.foundation:397402420"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019760", "name": "Terminal transverse defects of arm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["congenital limb amputation"], "xref": ["GARD:0025145", "MEDGEN:341800", "MESH:C565681", "Orphanet:93937", "UMLS:C1857578"]}
{"category": ["biolink:Disease"], "description": "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.", "id": "MONDO:0019761", "name": "Laryngotracheoesophageal cleft type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LTEC I", "LTEC1", "laryngo-tracheo-esophageal cleft type 1"], "xref": ["GARD:0019236", "MEDGEN:667239", "Orphanet:93938", "UMLS:C0584823"]}
{"category": ["biolink:Disease"], "description": "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.", "id": "MONDO:0019762", "name": "Laryngotracheoesophageal cleft type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LTEC II", "LTEC2", "laryngo-tracheo-esophageal cleft type 2"], "xref": ["GARD:0019237", "MEDGEN:667240", "Orphanet:93939", "UMLS:C0584824"]}
{"category": ["biolink:Disease"], "description": "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.", "id": "MONDO:0019763", "name": "Laryngotracheoesophageal cleft type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LTEC III", "LTEC3", "laryngo-tracheo-esophageal cleft type 3"], "xref": ["GARD:0016833", "MEDGEN:667241", "Orphanet:93940", "UMLS:C0584825"]}
{"category": ["biolink:Disease"], "description": "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.", "id": "MONDO:0019764", "name": "Laryngotracheoesophageal cleft type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LTEC IV", "LTEC4", "laryngo-tracheo-esophageal cleft type 4"], "xref": ["GARD:0019238", "MEDGEN:667243", "Orphanet:93941", "UMLS:C0584827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019766", "name": "X-linked intellectual disability, porteous type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019239", "MEDGEN:1842708", "Orphanet:93945", "UMLS:C5681616"]}
{"category": ["biolink:Disease"], "description": "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.", "id": "MONDO:0019767", "name": "Hamel cerebro-palato-cardiac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019240", "MEDGEN:1842506", "Orphanet:93946", "UMLS:C5681615", "icd11.foundation:1903143844"]}
{"category": ["biolink:Disease"], "description": "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.", "id": "MONDO:0019768", "name": "X-linked intellectual disability, golabi-ito-hall type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019241", "MEDGEN:1842639", "Orphanet:93947", "UMLS:C5681614"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019769", "name": "X-linked intellectual disability, sutherland-haan type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019242", "MEDGEN:1842836", "Orphanet:93950", "UMLS:C5681613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019770", "name": "X-linked dominant intellectual disability-epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:93951"]}
{"category": ["biolink:Disease"], "description": "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.", "id": "MONDO:0019771", "name": "Oromandibular dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050843", "GARD:0019243", "MEDGEN:473560", "Orphanet:93958", "UMLS:C2242577", "icd11.foundation:749381409"]}
{"category": ["biolink:Disease"], "description": "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.", "id": "MONDO:0019772", "name": "Blepharospasm-oromandibular dystonia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Meige Syndrome", "Meige dystonia", "Meige syndrome"], "xref": ["DOID:3982", "GARD:0007008", "MEDGEN:44341", "MESH:D008538", "NORD:1425", "Orphanet:93964", "SCTID:230325003", "UMLS:C0025183"]}
{"category": ["biolink:Disease"], "description": "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.", "id": "MONDO:0019773", "name": "Myelomeningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0060326", "GARD:0003475", "HP:0002475", "MEDGEN:7538", "MESH:D008591", "NANDO:1200509", "NANDO:2100215", "NANDO:2200814", "Orphanet:93969", "SCTID:414667000", "UMLS:C0025312", "icd11.foundation:1200528084"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.", "id": "MONDO:0019780", "name": "Anotia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016835", "ICD9:744.01", "MEDGEN:152377", "MedDRA:10002654", "Orphanet:93976", "SCTID:57436000", "UMLS:C0702139", "icd11.foundation:2056675356"]}
{"category": ["biolink:Disease"], "description": "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.", "id": "MONDO:0019781", "name": "Astrocytoma (excluding glioblastoma)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma"], "xref": ["EFO:0000272", "GARD:0025146", "ICDO:9400/3", "MEDGEN:438", "MESH:D001254", "NCIT:C60781", "ONCOTREE:ASTR", "SCTID:147101000119108", "UMLS:C0004114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019782", "name": "Humero-ulnar synostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["humero-ulnar fusion"], "xref": ["GARD:0019244", "MEDGEN:451053", "Orphanet:94056", "UMLS:C0431799", "icd11.foundation:2144695561"]}
{"category": ["biolink:Disease"], "description": "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.", "id": "MONDO:0019783", "name": "Neovascular glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_situation", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:1687", "EFO:1001060", "GARD:0019245", "MEDGEN:4898", "MESH:D015355", "MedDRA:10062891", "Orphanet:94058", "SCTID:232086000", "UMLS:C0017609", "icd11.foundation:700864997"]}
{"category": ["biolink:Disease"], "description": "12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.", "id": "MONDO:0019784", "name": "12q14 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(12)(q14)", "deletion 12q14", "monosomy 12q14", "osteopoikilosis-short stature-intellectual disability syndrome"], "xref": ["DECIPHER:76", "GARD:0013390", "MEDGEN:930809", "Orphanet:94063", "SCTID:719046005", "UMLS:C4305140"]}
{"category": ["biolink:Disease"], "description": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.", "id": "MONDO:0019786", "name": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019247", "MEDGEN:1372948", "Orphanet:94066", "UMLS:C4510007"]}
{"category": ["biolink:Disease"], "description": "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.", "id": "MONDO:0019787", "name": "Autoimmune enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["immune-mediated protracted diarrhea of infancy", "immune-mediated protracted diarrhoea of infancy", "severe immune-mediated enteropathy"], "xref": ["GARD:0008689", "ICD9:279.49", "MEDGEN:83322", "MESH:C538273", "NANDO:2200923", "NCIT:C94694", "Orphanet:94075", "SCTID:235728001", "UMLS:C0341305"]}
{"category": ["biolink:Disease"], "description": "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.", "id": "MONDO:0019788", "name": "Non-secreting paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019248", "MEDGEN:1634671", "Orphanet:94080", "SCTID:764999002", "UMLS:C4707263"]}
{"category": ["biolink:Disease"], "description": "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.", "id": "MONDO:0019789", "name": "Cytophagic histiocytic panniculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHP", "Winkelmann cytophagic panniculitis"], "xref": ["GARD:0019249", "MEDGEN:590528", "Orphanet:94087", "SCTID:238883003", "UMLS:C0406594", "icd11.foundation:1978274002"]}
{"category": ["biolink:Disease"], "description": "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.", "id": "MONDO:0019790", "name": "Neuroleptic malignant syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NMS"], "xref": ["DOID:14464", "EFO:1001379", "GARD:0007195", "ICD10CM:G21.0", "ICD9:333.92", "MEDGEN:10320", "MESH:D009459", "MedDRA:10029282", "NCIT:C94829", "NORD:1504", "Orphanet:94093", "SCTID:15244003", "UMLS:C0027849", "icd11.foundation:498240876"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019791", "name": "Recessive mitochondrial ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MIRAS"], "xref": ["GARD:0019251", "MEDGEN:1683676", "Orphanet:94125", "UMLS:C4760799"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.", "id": "MONDO:0019792", "name": "Autosomal dominant cerebellar ataxia type i", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ADCA1", "ADCAI", "autosomal dominant cerebellar ataxia type 1", "cerebellar plus syndrome"], "xref": ["GARD:0019252", "MEDGEN:1842696", "Orphanet:94145", "UMLS:C5680259"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.", "id": "MONDO:0019793", "name": "Autosomal dominant cerebellar ataxia type iii", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["ADCA3", "ADCAIII", "Pure cerebellar syndrome-mild pyramidal signs syndrome", "autosomal dominant cerebellar ataxia type 3", "autosomal dominant cerebellar ataxia type III"], "xref": ["GARD:0019253", "MEDGEN:1842779", "Orphanet:94148", "UMLS:C5680260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019794", "name": "Autosomal dominant cerebellar ataxia type iv", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["ADCA4", "ADCAIV", "autosomal dominant cerebellar ataxia type 4", "autosomal dominant cerebellar ataxia type IV"], "xref": ["GARD:0019254", "MEDGEN:1842584", "Orphanet:94149", "UMLS:C5680261"]}
{"category": ["biolink:Disease"], "description": "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.", "id": "MONDO:0019795", "name": "Acalvaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Acrania"], "xref": ["GARD:0000361", "MEDGEN:418951", "MESH:C535570", "Orphanet:945", "SCTID:203923004", "UMLS:C2930936", "icd11.foundation:1719021696"]}
{"category": ["biolink:Disease"], "description": "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.", "id": "MONDO:0019796", "name": "Acrocephalosyndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACS", "acrocephalosyndactylia", "acrocephalosyndactyly"], "xref": ["DOID:12960", "GARD:0025147", "ICD9:755.55", "MEDGEN:267602", "MedDRA:10000590", "NCIT:C34348", "Orphanet:946", "SCTID:268262006", "UMLS:C1510455"]}
{"category": ["biolink:Disease"], "description": "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.", "id": "MONDO:0019797", "name": "Acrodysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Arkless-Graham syndrome", "Maroteaux-Malamut syndrome", "acrodysplasia"], "xref": ["DOID:14669", "GARD:0005724", "ICD9:756.59", "MEDGEN:113097", "MESH:C538179", "NORD:722", "OMIMPS:101800", "Orphanet:950", "SCTID:66758006", "UMLS:C0220659", "icd11.foundation:477546932"]}
{"category": ["biolink:Disease"], "description": "A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.", "id": "MONDO:0019799", "name": "Hepatoerythropoietic porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HEP"], "xref": ["DOID:5230", "GARD:0006169", "MEDGEN:57940", "MESH:D017121", "NANDO:1200819", "NANDO:2201270", "NCIT:C84754", "Orphanet:95159", "SCTID:111386004", "UMLS:C0162569", "icd11.foundation:214080046"]}
{"category": ["biolink:Disease"], "description": "A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.", "id": "MONDO:0019801", "name": "Acute adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Addisonian crisis", "acute adrenal failure", "acute adrenocortical insufficiency", "adrenal crisis", "adrenocortical crisis"], "xref": ["GARD:0019257", "ICD10CM:E27.2", "ICD9:255.41", "MEDGEN:56227", "NCIT:C112840", "Orphanet:95409", "SCTID:24867002", "UMLS:C0151467", "icd11.foundation:114442391"]}
{"category": ["biolink:Disease"], "description": "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.", "id": "MONDO:0019802", "name": "Secondary short bowel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019258", "MEDGEN:1842747", "Orphanet:95427", "UMLS:C5681579"]}
{"category": ["biolink:Disease"], "description": "Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.", "id": "MONDO:0019803", "name": "Angioma serpiginosum", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:4028", "GARD:0015021", "MEDGEN:75528", "NCIT:C3926", "Orphanet:95429", "SCTID:49465005", "UMLS:C0263637", "icd11.foundation:1724787481"]}
{"category": ["biolink:Disease"], "description": "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.", "id": "MONDO:0019804", "name": "Congenital tracheomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Congenital Tracheomalacia", "congenital major airway collapse", "congenital tracheomalacia", "tracheomalacia, congenital"], "xref": ["DOID:0060313", "GARD:0010515", "HP:0002779", "ICD9:748.3", "MEDGEN:140261", "MESH:D055090", "MedDRA:10010654", "NANDO:2200195", "NCIT:C98634", "NORD:2028", "Orphanet:95430", "SCTID:95467005", "UMLS:C0392109", "icd11.foundation:1616705280", "icd11.foundation:303133490"]}
{"category": ["biolink:Disease"], "description": "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated", "id": "MONDO:0019805", "name": "Twin to twin transfusion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Feto-fetal transfusion syndrome", "Twin Anemia Polycythemia Sequence", "Twin-Twin transfusion syndrome", "foetal blood loss from foetal haemorrhage into co-twin", "foetal haemorrhage into co-twin", "placental transfusion syndrome", "stuck Twin syndrome", "twin-to-twin transfusion syndrome"], "xref": ["DOID:13576", "EFO:1001221", "GARD:0000325", "MEDGEN:777055", "MESH:D005330", "MedDRA:10058328", "NCIT:C113824", "NORD:2021", "Orphanet:95431", "SCTID:13404009", "UMLS:C2909036", "icd11.foundation:850604370"]}
{"category": ["biolink:Disease"], "description": "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).", "id": "MONDO:0019806", "name": "Primary progressive aphasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Mesulam syndrome", "PPA"], "xref": ["DOID:0081388", "EFO:0009053", "GARD:0008541", "MEDGEN:79466", "MESH:D018888", "NCIT:C85024", "Orphanet:95432", "UMLS:C0282513"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019807", "name": "Mesocardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Midline heart", "mesocardia", "mesocardia (disease)"], "xref": ["GARD:0019259", "HP:0011599", "ICD9:746.87", "MEDGEN:488817", "Orphanet:95443", "SCTID:16567006", "UMLS:C0265865", "icd11.foundation:1251061251"]}
{"category": ["biolink:Disease"], "description": "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.", "id": "MONDO:0019808", "name": "Aortic valve atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["aortic valve atresia", "aortic valve atresia (disease)", "congenital aortic valve atresia", "congenital atresia of aortic valve"], "xref": ["GARD:0019260", "HP:0010883", "MEDGEN:451016", "MedDRA:10066801", "NCIT:C98818", "Orphanet:95448", "SCTID:51442005", "UMLS:C0265843", "icd11.foundation:1700740306"]}
{"category": ["biolink:Disease"], "description": "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.", "id": "MONDO:0019809", "name": "Congenital aortic valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Congential aortic valve insufficiency", "congenital aortic insufficiency", "congenital insufficiency of aortic valve"], "xref": ["GARD:0025148", "ICD10CM:Q23.1", "ICD9:746.4", "MEDGEN:510599", "MedDRA:10010370", "NCIT:C103936", "Orphanet:95449", "SCTID:28656008", "UMLS:C0158617", "icd11.foundation:167104804"]}
{"category": ["biolink:Disease"], "description": "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.", "id": "MONDO:0019810", "name": "Toxic epidermal necrolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SJS-TEN", "TEN", "toxic epidermolysis"], "xref": ["EFO:0004775", "GARD:0007743", "ICD9:695.15", "MEDGEN:4501", "MedDRA:10044223", "NANDO:1200246", "NANDO:2201007", "NCIT:C79777", "Orphanet:95455", "SCTID:23067006", "UMLS:C0014518", "icd11.foundation:1575072695", "icd11.foundation:195467267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019811", "name": "Tricuspid valve agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital unguarded tricuspid orifice"], "xref": ["GARD:0019261", "MEDGEN:672653", "Orphanet:95457", "UMLS:C0685715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019813", "name": "Congenital tricuspid stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019262", "ICD10CM:Q22.4", "MEDGEN:539527", "MedDRA:10010656", "NANDO:1200962", "Orphanet:95459", "SCTID:36233006", "UMLS:C0265836", "icd11.foundation:1996822362"]}
{"category": ["biolink:Disease"], "description": "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.", "id": "MONDO:0019814", "name": "Straddling or overriding tricuspid valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019263", "MEDGEN:1818564", "Orphanet:95461", "UMLS:C5761644"]}
{"category": ["biolink:Disease"], "description": "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.", "id": "MONDO:0019815", "name": "Accessory tricuspid valve tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019264", "MEDGEN:1798036", "Orphanet:95462", "UMLS:C5566613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019817", "name": "Congenital mitral valve insufficiency and/or stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019266", "ICD10CM:Q23", "MEDGEN:1842574", "Orphanet:95464", "UMLS:C5681577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019818", "name": "Cleft mitral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019267", "MEDGEN:473080", "Orphanet:95465", "UMLS:C0344772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019819", "name": "Double-orifice mitral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019268", "ICD9:746.89", "MEDGEN:488869", "Orphanet:95474", "SCTID:253402005", "UMLS:C0344770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019820", "name": "Univentricular cardiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019269", "MEDGEN:1843389", "Orphanet:95483", "UMLS:C5681576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019821", "name": "Aneurysm or dilatation of ascending aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_morphological_anomaly", "mondo:otar", "mondo:rare"], "xref": ["Orphanet:95484"]}
{"category": ["biolink:Disease"], "description": "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.", "id": "MONDO:0019823", "name": "Premature closure of the arterial duct", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["premature closure of the patent ductus arteriosus"], "xref": ["GARD:0019271", "MEDGEN:759377", "Orphanet:95486", "UMLS:C3532264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019824", "name": "Non-acquired pituitary hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019272", "MEDGEN:1842784", "Orphanet:95488", "UMLS:C5681572"]}
{"category": ["biolink:Disease"], "description": "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.", "id": "MONDO:0019825", "name": "Congenital coronary artery aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital coronary aneurysm"], "xref": ["GARD:0019273", "MEDGEN:573848", "Orphanet:95491", "SCTID:204378009", "UMLS:C0340627", "icd11.foundation:1376805686"]}
{"category": ["biolink:Disease"], "description": "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.", "id": "MONDO:0019828", "name": "Pituitary stalk interruption syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PSIS", "ectopic neurohypophysis", "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary"], "xref": ["GARD:0013209", "MEDGEN:883774", "NCIT:C121150", "Orphanet:95496", "SCTID:715727009", "UMLS:C4053775", "icd11.foundation:1474283222"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019829", "name": "Congenital anomaly of superior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital anomaly of superior caval vein", "congenital anomaly of the SVC"], "xref": ["GARD:0019275", "ICD9:747.49", "MEDGEN:539589", "Orphanet:95498", "SCTID:70195006", "UMLS:C0265928", "icd11.foundation:1459500132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019830", "name": "Congenital anomaly of the inferior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital anomaly of the IVC", "congenital anomaly of the inferior caval vein"], "xref": ["GARD:0019276", "ICD9:747.49", "MEDGEN:539592", "Orphanet:95499", "SCTID:81577001", "UMLS:C0265932", "icd11.foundation:1266881625"]}
{"category": ["biolink:Disease"], "description": "An instance of hypopituitarism that is acquired during the lifetime of the individual.", "id": "MONDO:0019832", "name": "Acquired pituitary hormone deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired hypopituitarism"], "xref": ["GARD:0019278", "MEDGEN:1843262", "NANDO:2200313", "Orphanet:95502", "UMLS:C5681569"]}
{"category": ["biolink:Disease"], "description": "An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies.", "id": "MONDO:0019835", "name": "Lymphocytic hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autoimmune hypophysitis"], "xref": ["GARD:0019281", "ICD9:253.8", "ICD9:279.49", "MEDGEN:575013", "MESH:D000069281", "NCIT:C132055", "SCTID:237706000", "UMLS:C0342410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019836", "name": "Congenital anomaly of hepatic vein", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019282", "MEDGEN:756237", "Orphanet:95507", "UMLS:C3163825"]}
{"category": ["biolink:Disease"], "description": "A rare, acquired pituitary hormone deficiency characterized by an inflammation of anterior pituitary with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.", "id": "MONDO:0019838", "name": "Adenohypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adenohypophysis inflammation", "anterior pituitary hypophysitis"], "xref": ["GARD:0019284", "MEDGEN:1677203", "Orphanet:95512", "UMLS:C5190880"]}
{"category": ["biolink:Disease"], "description": "A hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.", "id": "MONDO:0019839", "name": "Panhypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Infundibulo-panhypophysitis"], "xref": ["GARD:0019285", "MEDGEN:1674527", "Orphanet:95513", "UMLS:C5190786"]}
{"category": ["biolink:Disease"], "description": "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.", "id": "MONDO:0019840", "name": "Acropectororenal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["GARD:0000511", "Orphanet:956", "SCTID:720413004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019845", "name": "Iatrogenic or traumatic pituitary deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019290", "MEDGEN:575005", "Orphanet:95619", "UMLS:C0342400"]}
{"category": ["biolink:Disease"], "description": "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.", "id": "MONDO:0019846", "name": "Acquired central diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["acquired CDI", "acquired central diabetes insipidus", "acquired neurogenic diabetes insipidus"], "xref": ["GARD:0019291", "MEDGEN:1843437", "Orphanet:95626", "UMLS:C5680256", "icd11.foundation:1677009817"]}
{"category": ["biolink:Disease"], "description": "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.", "id": "MONDO:0019848", "name": "Posterior hypospadias", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["perineal, scrotal or penoscrotal hypospadias"], "xref": ["GARD:0016840", "MEDGEN:1684864", "Orphanet:95706", "UMLS:C5231010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019849", "name": "Isolated micropenis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019292", "MEDGEN:1843275", "Orphanet:95707", "UMLS:C5681560"]}
{"category": ["biolink:Disease"], "description": "An instance of primary ovarian failure that is acquired during the lifetime of the individual.", "id": "MONDO:0019851", "name": "Acquired primary ovarian failure", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["acquired primary ovarian failure"], "xref": ["MEDGEN:1863413", "Orphanet:95709", "SCTID:717954003", "UMLS:C5925051"]}
{"category": ["biolink:Disease"], "description": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0019852", "name": "Inherited primary ovarian failure", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary primary ovarian failure", "inherited POI", "inherited premature ovarian failure", "inherited primary ovarian insufficiency"], "xref": ["GARD:0019294", "MEDGEN:443920", "OMIMPS:311360", "Orphanet:95710", "UMLS:C2930861"]}
{"category": ["biolink:Disease"], "description": "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.", "id": "MONDO:0019854", "name": "Thyroid ectopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016841", "MEDGEN:78591", "NANDO:2200330", "Orphanet:95712", "UMLS:C0266283", "icd11.foundation:458251984"]}
{"category": ["biolink:Disease"], "description": "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.", "id": "MONDO:0019855", "name": "Athyreosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016842", "MEDGEN:155447", "NANDO:2200331", "Orphanet:95713", "UMLS:C0749420"]}
{"category": ["biolink:Disease"], "description": "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.", "id": "MONDO:0019857", "name": "Congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019297", "MEDGEN:903571", "Orphanet:95715", "SCTID:717333002", "UMLS:C4273914"]}
{"category": ["biolink:Disease"], "description": "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.", "id": "MONDO:0019858", "name": "Idiopathic congenital hypothyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019298", "MEDGEN:901252", "Orphanet:95717", "SCTID:717334008", "UMLS:C4273913"]}
{"category": ["biolink:Disease"], "description": "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.", "id": "MONDO:0019860", "name": "Thyroid hemiagenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016844", "MEDGEN:868785", "Orphanet:95719", "SCTID:715734006", "UMLS:C4023190", "icd11.foundation:872920513"]}
{"category": ["biolink:Disease"], "description": "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.", "id": "MONDO:0019861", "name": "Thyroid hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0008426", "MEDGEN:57720", "MedDRA:10065938", "Orphanet:95720", "UMLS:C0151516", "icd11.foundation:936952450"]}
{"category": ["biolink:Disease"], "description": "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.", "id": "MONDO:0019862", "name": "Levocardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["levocardia-situs inversus"], "xref": ["GARD:0012032", "ICD10CM:Q24.1", "MEDGEN:7331", "MESH:D007979", "MedDRA:10071015", "NCIT:C111647", "Orphanet:95854", "SCTID:205769006", "UMLS:C0023569", "icd11.foundation:848076902"]}
{"category": ["biolink:Disease"], "description": "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.", "id": "MONDO:0019864", "name": "Tetrasomy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Isochromosome 21", "tetrasomy type 21"], "xref": ["GARD:0012480", "MEDGEN:1640242", "Orphanet:96055", "SCTID:764690001", "UMLS:C4707057", "icd11.foundation:1246904243"]}
{"category": ["biolink:Disease"], "description": "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.", "id": "MONDO:0019865", "name": "Mosaic trisomy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 4", "Mosaic trisomy type 4", "trisomy 4 mosaicism"], "xref": ["GARD:0019300", "MEDGEN:1637768", "Orphanet:96059", "SCTID:764628000", "UMLS:C4272018"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.", "id": "MONDO:0019866", "name": "Mosaic trisomy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 5", "Mosaic trisomy type 5", "trisomy 5 mosaicism"], "xref": ["GARD:0019301", "MEDGEN:419849", "MESH:C537762", "Orphanet:96060", "SCTID:764629008", "UMLS:C2931603"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.", "id": "MONDO:0019867", "name": "Mosaic trisomy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy type 8", "Warkany syndrome"], "xref": ["GARD:0005359", "MEDGEN:797340", "MESH:C537940", "MedDRA:10053916", "Orphanet:96061", "SCTID:717335009", "UMLS:C1096527"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.", "id": "MONDO:0019868", "name": "Mosaic trisomy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy chromosome 10", "Mosaic trisomy type 10", "mosaic trisomy 10", "trisomy 10 mosaicism"], "xref": ["GARD:0019302", "MEDGEN:419163", "MESH:C538292", "Orphanet:96063", "SCTID:764461004", "UMLS:C2931794"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.", "id": "MONDO:0019869", "name": "Mosaic trisomy 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mosaic trisomy type 22"], "xref": ["GARD:0006085", "MEDGEN:419045", "MESH:C536796", "NORD:949", "Orphanet:96068", "SCTID:764625002", "UMLS:C2931326"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.", "id": "MONDO:0019870", "name": "Distal trisomy 1p36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 1p36", "distal trisomy type 1p36", "telomeric duplication 1p36", "trisomy 1pter"], "xref": ["GARD:0019303", "MEDGEN:1646544", "Orphanet:96069", "SCTID:766053003", "UMLS:C4707665"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.", "id": "MONDO:0019871", "name": "Distal trisomy 2p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 2p", "distal trisomy type 2p", "telomeric duplication 2p", "trisomy 2pter"], "xref": ["GARD:0019304", "MEDGEN:1646233", "Orphanet:96070", "SCTID:764518004", "UMLS:C4706937"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.", "id": "MONDO:0019872", "name": "Distal trisomy 3p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 3p", "distal trisomy type 3p", "telomeric duplication 3p", "trisomy 3pter"], "xref": ["GARD:0019305", "MEDGEN:1637379", "Orphanet:96071", "SCTID:764519007", "UMLS:C4706938"]}
{"category": ["biolink:Disease"], "description": "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.", "id": "MONDO:0019873", "name": "4p16.3 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 4p", "distal trisomy 4p", "telomeric duplication 4p", "trisomy 4pter"], "xref": ["GARD:0019306", "MEDGEN:1387521", "Orphanet:96072", "SCTID:726706008", "UMLS:C4512053"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.", "id": "MONDO:0019874", "name": "Distal trisomy 7p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 7p", "distal trisomy type 7p", "telomeric duplication 7p", "trisomy 7pter"], "xref": ["GARD:0019307", "MEDGEN:1641655", "Orphanet:96074", "SCTID:763276000", "UMLS:C4706364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019875", "name": "Beckwith-wiedemann syndrome due to 11p15 microduplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0019308", "MEDGEN:1826126", "Orphanet:96076", "UMLS:C5681581"]}
{"category": ["biolink:Disease"], "description": "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.", "id": "MONDO:0019876", "name": "8p inverted duplication/deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Invdupdel(8p)", "inverted 8p duplication/deletion syndrome"], "xref": ["GARD:0019309", "MEDGEN:906101", "Orphanet:96092", "SCTID:718188007", "UMLS:C4273676"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.", "id": "MONDO:0019877", "name": "Distal trisomy 2q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 2q", "distal trisomy type 2q", "telomeric duplication 2q", "trisomy 2qter"], "xref": ["GARD:0019310", "MEDGEN:1634043", "Orphanet:96094", "SCTID:763272003", "UMLS:C4706361"]}
{"category": ["biolink:Disease"], "description": "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.", "id": "MONDO:0019878", "name": "3q26 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cornelia de Lange-like syndrome", "dup(3)(q26)", "dup(3q) syndrome", "trisomy 3q26"], "xref": ["GARD:0019311", "MEDGEN:1670584", "Orphanet:96095", "UMLS:C4755319"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.", "id": "MONDO:0019879", "name": "Distal trisomy 4q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 4q", "distal trisomy type 4q", "telomeric duplication 4q", "trisomy 4qter"], "xref": ["GARD:0019312", "MEDGEN:1633392", "Orphanet:96096", "SCTID:763273008", "UMLS:C4706362"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).", "id": "MONDO:0019880", "name": "Distal trisomy 5q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal duplication 5q", "distal trisomy type 5q", "telomeric duplication 5q", "trisomy 5qter"], "xref": ["GARD:0019313", "MEDGEN:1646186", "Orphanet:96097", "SCTID:763274002", "UMLS:C4706363"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.", "id": "MONDO:0019881", "name": "Distal trisomy 6q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 6, Partial Trisomy 6q", "distal duplication 6q", "distal trisomy type 6q", "telomeric duplication 6q", "trisomy 6qter"], "xref": ["GARD:0019314", "MEDGEN:162773", "MESH:C537810", "NORD:959", "Orphanet:96098", "SCTID:763275001", "UMLS:C0795817"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).", "id": "MONDO:0019882", "name": "Distal trisomy 8q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 8q", "distal trisomy type 8q", "telomeric duplication 8q", "trisomy 8qter"], "xref": ["GARD:0019315", "MEDGEN:1637956", "Orphanet:96100", "SCTID:763277009", "UMLS:C4706365"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.", "id": "MONDO:0019883", "name": "Distal trisomy 9q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 9q", "distal trisomy type 9q", "telomeric duplication 9q", "trisomy 9qter"], "xref": ["GARD:0019316", "MEDGEN:1645202", "Orphanet:96101", "SCTID:764520001", "UMLS:C4706939"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.", "id": "MONDO:0019884", "name": "Distal trisomy 10q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 10, Distal Trisomy 10q", "distal duplication 10q", "distal trisomy type 10q", "telomeric duplication 10q", "trisomy 10qter"], "xref": ["GARD:0019317", "MEDGEN:419480", "MESH:C538087", "NORD:934", "Orphanet:96102", "SCTID:718689000", "UMLS:C2931728"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.", "id": "MONDO:0019885", "name": "Distal trisomy 11q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 11, Partial Trisomy 11q", "distal duplication 11q", "distal trisomy type 11q", "telomeric duplication 11q", "trisomy 11qter"], "xref": ["GARD:0019318", "MEDGEN:419166", "MESH:C538294", "NORD:937", "Orphanet:96103", "SCTID:764447009", "UMLS:C2931797"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.", "id": "MONDO:0019886", "name": "Distal trisomy 13q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 13q", "distal trisomy type 13q", "telomeric duplication 13q", "trisomy 13qter"], "xref": ["GARD:0019319", "MEDGEN:1639680", "Orphanet:96105", "SCTID:764454003", "UMLS:C4706933"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.", "id": "MONDO:0019887", "name": "Distal trisomy 16q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 16q", "distal trisomy type 16q", "telomeric duplication 16q", "trisomy 16qter"], "xref": ["GARD:0019320", "MEDGEN:1633675", "Orphanet:96106", "SCTID:764459008", "UMLS:C4706934"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.", "id": "MONDO:0019888", "name": "Distal trisomy 20q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 20q", "distal trisomy type 20q", "telomeric duplication 20q", "trisomy 20qter"], "xref": ["GARD:0019321", "MEDGEN:1636588", "Orphanet:96107", "SCTID:764500002", "UMLS:C4706935"]}
{"category": ["biolink:Disease"], "description": "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.", "id": "MONDO:0019889", "name": "Distal trisomy 22q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal duplication 22q", "distal trisomy type 22q", "telomeric duplication 22q", "trisomy 22qter"], "xref": ["GARD:0019322", "MEDGEN:1642344", "Orphanet:96109", "SCTID:764512003", "UMLS:C4706936"]}
{"category": ["biolink:Disease"], "description": "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.", "id": "MONDO:0019890", "name": "Non-distal trisomy 9q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["non-distal duplication 9q", "non-distal trisomy type 9q", "non-telomeric trisomy 9q"], "xref": ["GARD:0019323", "MEDGEN:1631139", "Orphanet:96112", "SCTID:764997000", "UMLS:C4707261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019891", "name": "Monosomy 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Del(22)", "deletion 22", "monosomy type 22"], "xref": ["GARD:0019324", "MEDGEN:208644", "NCIT:C36461", "Orphanet:96123", "UMLS:C0795878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019892", "name": "Distal monosomy 7p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal deletion 7p", "distal monosomy type 7p", "monosomy 7pter", "telomeric deletion 7p"], "xref": ["GARD:0019325", "MEDGEN:1683031", "Orphanet:96126", "UMLS:C5190515"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).", "id": "MONDO:0019893", "name": "Distal monosomy 19p13.3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal deletion 19p", "telomeric deletion 19p"], "xref": ["GARD:0019326", "MEDGEN:1665859", "Orphanet:96129", "UMLS:C4749277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019895", "name": "Distal monosomy 4q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal deletion 4q", "distal monosomy type 4q", "monosomy 4qter", "telomeric deletion 4q"], "xref": ["GARD:0019327", "MEDGEN:1680190", "Orphanet:96145", "UMLS:C5190514"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019896", "name": "Kleefstra syndrome due to 9q34 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["9q subtelomeric deletion syndrome", "9qSTDS", "Kleefstra syndrome due to 9q subtelomeric deletion", "Kleefstra syndrome due to del(9)(q34)", "Kleefstra syndrome due to monosomy 9q34"], "xref": ["DECIPHER:52", "GARD:0016846", "Orphanet:96147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019897", "name": "Distal monosomy 12q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal deletion 12q", "distal monosomy type 12q", "monosomy 12qter", "telomeric deletion 12q"], "xref": ["GARD:0019328", "MEDGEN:1761314", "Orphanet:96149", "UMLS:C5438460"]}
{"category": ["biolink:Disease"], "description": "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.", "id": "MONDO:0019898", "name": "Distal monosomy 14q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["distal deletion 14q", "distal monosomy type 14q", "telomeric deletion 14q"], "xref": ["GARD:0019329", "MEDGEN:1656422", "Orphanet:96150", "UMLS:C4749276"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019900", "name": "Non-distal monosomy 12q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["non-distal deletion 12q", "non-distal monosomy type 12q", "non-telomeric monosomy 12q"], "xref": ["GARD:0019330", "MEDGEN:1679764", "Orphanet:96160", "UMLS:C5190525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019901", "name": "Non-distal monosomy 20q", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["non-distal deletion 20q", "non-distal monosomy type 20q", "non-telomeric monosomy 20q"], "xref": ["GARD:0025149", "Orphanet:96164"]}
{"category": ["biolink:Disease"], "description": "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.", "id": "MONDO:0019902", "name": "Monosomy 13q34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(13)(q34)", "distal deletion 13q34", "monosomy type 13q34", "subtelomeric deletion 13q34"], "xref": ["GARD:0016847", "MEDGEN:1631901", "Orphanet:96168", "SCTID:766716004", "UMLS:C4707797"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).", "id": "MONDO:0019903", "name": "Ring chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 2", "rose cluster 2"], "xref": ["GARD:0010837", "MEDGEN:1642621", "NCIT:C121981", "Orphanet:96171", "SCTID:765485000", "UMLS:C4707448"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.", "id": "MONDO:0019904", "name": "Ring chromosome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 3", "rose cluster 3"], "xref": ["GARD:0010839", "MEDGEN:1643677", "NCIT:C121982", "Orphanet:96172", "SCTID:765486004", "UMLS:C4707449"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.", "id": "MONDO:0019905", "name": "Ring chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Chromosome 9 Ring", "Ring 9", "Ring chromosome type 9"], "xref": ["GARD:0001348", "MEDGEN:539244", "MESH:C538022", "NORD:962", "Orphanet:96173", "SCTID:60650002", "UMLS:C0265430"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.", "id": "MONDO:0019906", "name": "Ring chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RC11", "Ring chromosome type 11", "r(11) syndrome"], "xref": ["GARD:0010846", "ICD9:758.89", "MEDGEN:539256", "Orphanet:96175", "SCTID:111310003", "UMLS:C0265444"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.", "id": "MONDO:0019907", "name": "Ring chromosome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ring chromosome type 13"], "xref": ["GARD:0006069", "MEDGEN:444146", "MESH:C538303", "Orphanet:96176", "SCTID:726723004", "UMLS:C2931808"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.", "id": "MONDO:0019908", "name": "Ring chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chromosome 15 Ring", "Ring chromosome type 15"], "xref": ["GARD:0001328", "MEDGEN:1646359", "MESH:C538035", "NORD:941", "Orphanet:96177", "SCTID:763405000", "UMLS:C0795855"]}
{"category": ["biolink:Disease"], "description": "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.", "id": "MONDO:0019909", "name": "Ring chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Ring chromosome type 16"], "xref": ["GARD:0010855", "MEDGEN:1641955", "Orphanet:96178", "SCTID:763406004", "UMLS:C4706449"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.", "id": "MONDO:0019910", "name": "Maternal uniparental disomy of chromosome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(2)mat", "maternal uniparental disomy of chromosome type 2"], "xref": ["GARD:0019331", "MEDGEN:1631626", "Orphanet:96179", "SCTID:766237006", "UMLS:C4707718", "icd11.foundation:2067230711"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.", "id": "MONDO:0019911", "name": "Maternal uniparental disomy of chromosome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(4)mat", "maternal uniparental disomy of chromosome type 4"], "xref": ["GARD:0019332", "MEDGEN:1644554", "Orphanet:96180", "SCTID:766238001", "UMLS:C4707719", "icd11.foundation:358848660"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.", "id": "MONDO:0019912", "name": "Maternal uniparental disomy of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(6)mat", "maternal uniparental disomy of chromosome type 6"], "xref": ["GARD:0019333", "MEDGEN:1638411", "Orphanet:96181", "SCTID:766239009", "UMLS:C4707720", "icd11.foundation:423779048"]}
{"category": ["biolink:Disease"], "description": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).", "id": "MONDO:0019913", "name": "Silver-russell syndrome due to maternal uniparental disomy of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7", "UPD(7)mat"], "xref": ["GARD:0019334", "MEDGEN:1826074", "Orphanet:96182", "UMLS:C5680247"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.", "id": "MONDO:0019914", "name": "Maternal uniparental disomy of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(9)mat", "maternal uniparental disomy of chromosome type 9"], "xref": ["GARD:0019335", "MEDGEN:1634619", "Orphanet:96183", "SCTID:766240006", "UMLS:C4707721", "icd11.foundation:102102686"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).", "id": "MONDO:0019915", "name": "Maternal uniparental disomy of chromosome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["UPD(14)mat", "maternal uniparental disomy of chromosome type 14"], "xref": ["GARD:0016848", "MEDGEN:1841563", "Orphanet:96184", "UMLS:C5680248", "icd11.foundation:171193570"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019916", "name": "Maternal uniparental disomy of chromosome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(16)mat", "maternal uniparental disomy of chromosome type 16"], "xref": ["GARD:0019336", "MEDGEN:1650997", "Orphanet:96185", "UMLS:C4750769", "icd11.foundation:635736420"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.", "id": "MONDO:0019917", "name": "Maternal uniparental disomy of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(20)mat", "maternal UPD(20)", "maternal uniparental disomy of chromosome type 20"], "xref": ["DOID:0111714", "GARD:0016849", "MEDGEN:909388", "OMIM:617352", "Orphanet:96186", "SCTID:715735007", "UMLS:C4275029", "icd11.foundation:700797720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019918", "name": "Maternal uniparental disomy of chromosome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(21)mat", "maternal uniparental disomy of chromosome type 21"], "xref": ["GARD:0019337", "MEDGEN:1673526", "Orphanet:96187", "UMLS:C5190523", "icd11.foundation:553200266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019919", "name": "Maternal uniparental disomy of chromosome 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(22)mat", "maternal uniparental disomy of chromosome type 22"], "xref": ["GARD:0019338", "MEDGEN:1683631", "Orphanet:96188", "UMLS:C5190524", "icd11.foundation:752412918"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.", "id": "MONDO:0019920", "name": "Paternal uniparental disomy of chromosome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(5)pat", "paternal uniparental disomy of chromosome type 5"], "xref": ["GARD:0019339", "MEDGEN:1652849", "Orphanet:96190", "UMLS:C4749377", "icd11.foundation:1224981751"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.", "id": "MONDO:0019921", "name": "Paternal uniparental disomy of chromosome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["UPD(6)pat", "paternal uniparental disomy of chromosome type 6"], "xref": ["GARD:0019340", "MEDGEN:1662050", "Orphanet:96191", "UMLS:C4749378", "icd11.foundation:1267556610"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).", "id": "MONDO:0019922", "name": "Paternal uniparental disomy of chromosome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(7)pat", "paternal uniparental disomy of chromosome type 7"], "xref": ["GARD:0019341", "MEDGEN:1634443", "Orphanet:96192", "SCTID:766721001", "UMLS:C4707802", "icd11.foundation:1517671165"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019923", "name": "Beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11", "Mosaic paternal uniparental disomy of chromosome 11", "UPD(11)pat"], "xref": ["GARD:0019342", "MEDGEN:1843183", "Orphanet:96193", "UMLS:C5680249"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.", "id": "MONDO:0019924", "name": "Paternal uniparental disomy of chromosome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(20)pat", "paternal UPD(20)", "paternal UPD20", "paternal uniparental disomy of chromosome type 20"], "xref": ["GARD:0019343", "MEDGEN:897979", "Orphanet:96194", "SCTID:715736008", "UMLS:C4275028", "icd11.foundation:1406068218"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.", "id": "MONDO:0019925", "name": "Paternal uniparental disomy of chromosome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(21)pat", "paternal uniparental disomy of chromosome type 21"], "xref": ["GARD:0019344", "MEDGEN:1647612", "Orphanet:96195", "SCTID:766720000", "UMLS:C4707801", "icd11.foundation:2038740231"]}
{"category": ["biolink:Disease"], "description": "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.", "id": "MONDO:0019926", "name": "X small rings", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019345", "MEDGEN:1641475", "Orphanet:96201", "SCTID:766760004", "UMLS:C4707824"]}
{"category": ["biolink:Disease"], "description": "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.", "id": "MONDO:0019927", "name": "Growth hormone-producing pituitary gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Growth hormone-producing pituitary gland tumor", "Growth hormone-producing pituitary gland tumour", "growth hormone producing neoplasm of pituitary", "growth hormone producing neoplasm of pituitary gland", "growth hormone producing neoplasm of the pituitary", "growth hormone producing neoplasm of the pituitary gland", "growth hormone producing pituitary gland neoplasm", "growth hormone producing pituitary gland tumor", "growth hormone producing pituitary gland tumour", "growth hormone producing pituitary neoplasm", "growth hormone producing pituitary tumor", "growth hormone producing pituitary tumour", "growth hormone producing tumor", "growth hormone producing tumor of pituitary", "growth hormone producing tumor of pituitary gland", "growth hormone producing tumor of the pituitary", "growth hormone producing tumor of the pituitary gland", "growth hormone producing tumour", "growth hormone producing tumour of pituitary", "growth hormone producing tumour of pituitary gland", "growth hormone producing tumour of the pituitary", "growth hormone producing tumour of the pituitary gland", "growth hormone secreting neoplasm of pituitary", "growth hormone secreting neoplasm of pituitary gland", "growth hormone secreting neoplasm of the pituitary", "growth hormone secreting neoplasm of the pituitary gland", "growth hormone secreting pituitary gland neoplasm", "growth hormone secreting pituitary gland tumor", "growth hormone secreting pituitary gland tumour", "growth hormone secreting pituitary neoplasm", "growth hormone secreting pituitary tumor", "growth hormone secreting pituitary tumour", "growth hormone secreting tumor of pituitary", "growth hormone secreting tumor of pituitary gland", "growth hormone secreting tumor of the pituitary", "growth hormone secreting tumor of the pituitary gland", "growth hormone secreting tumour of pituitary", "growth hormone secreting tumour of pituitary gland", "growth hormone secreting tumour of the pituitary", "growth hormone secreting tumour of the pituitary gland", "growth hormone-producing pituitary gland neoplasm", "pituitary gland somatotropinoma", "pituitary somatotropinoma", "somatotroph neoplasm", "somatotroph tumor", "somatotroph tumour", "somatotropinoma", "somatotropinoma of pituitary", "somatotropinoma of pituitary gland", "somatotropinoma of the pituitary", "somatotropinoma of the pituitary gland"], "xref": ["GARD:0025150", "MEDGEN:866320", "NCIT:C7911", "UMLS:C4018860"]}
{"category": ["biolink:Disease"], "description": "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.", "id": "MONDO:0019928", "name": "48,xxxy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["48, XXXY syndrome"], "xref": ["GARD:0005676", "ICD9:758.81", "MEDGEN:452344", "MedDRA:10048228", "NCIT:C89799", "Orphanet:96263", "SCTID:78317008", "UMLS:C0265498"]}
{"category": ["biolink:Disease"], "description": "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.", "id": "MONDO:0019929", "name": "49,xxxxy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0005679", "ICD9:758.81", "MEDGEN:75573", "NCIT:C185635", "Orphanet:96264", "SCTID:38847009", "UMLS:C0265499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019930", "name": "Leydig cell hypoplasia due to complete lh resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["46,XY DSD due to complete LH receptor inactivation", "46,XY DSD due to complete LH resistance", "46,XY DSD due to complete luteinizing hormone receptor inactivation", "46,XY DSD due to complete luteinizing hormone resistance", "46,XY disorder of sex development due to complete LH receptor inactivation", "46,XY disorder of sex development due to complete LH resistance", "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation", "46,XY disorder of sex development due to complete luteinizing hormone resistance", "Leydig cell hypoplasia due to complete LH receptor inactivation", "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation", "Leydig cell hypoplasia due to complete luteinizing hormone resistance"], "xref": ["DOID:0112260", "GARD:0016851", "MEDGEN:1776152", "Orphanet:96265", "UMLS:C5438974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019931", "name": "Leydig cell hypoplasia due to partial lh resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["46,XY DSD due to partial LH receptor inactivation", "46,XY DSD due to partial LH resistance", "46,XY DSD due to partial luteinizing hormone resistance", "Leydig cell hypoplasia due to partial LH receptor inactivation", "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation", "Leydig cell hypoplasia due to partial luteinizing hormone resistance"], "xref": ["DOID:0112261", "GARD:0016852", "MEDGEN:1739565", "Orphanet:96266", "UMLS:C5438975"]}
{"category": ["biolink:Disease"], "description": "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.", "id": "MONDO:0019932", "name": "Isolated partial vaginal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of vagina"], "xref": ["GARD:0019347", "ICD10CM:Q52.0", "MEDGEN:687783", "Orphanet:96269", "SCTID:87380008", "UMLS:C1261251", "icd11.foundation:15782"]}
{"category": ["biolink:Disease"], "description": "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.", "id": "MONDO:0019933", "name": "Acromegaly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:2449", "EFO:1001485", "GARD:0005725", "MEDGEN:1304", "MESH:D000172", "MedDRA:10000599", "NANDO:2100112", "NANDO:2200315", "NCIT:C84533", "NORD:723", "Orphanet:963", "SCTID:74107003", "UMLS:C0001206"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.", "id": "MONDO:0019934", "name": "Polyploidy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019348", "MEDGEN:18567", "MESH:D011123", "Orphanet:96321", "SCTID:72991005", "UMLS:C0032578", "icd11.foundation:1286128770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019935", "name": "Isochromosome y", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["Isochromosome type Y"], "xref": ["GARD:0019349", "MEDGEN:1876660", "Orphanet:96325", "UMLS:C6012238", "icd11.foundation:939997307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019938", "name": "Anorectal malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019351", "ICD9:751.5", "MESH:C537771", "Orphanet:96346", "SCTID:33225004", "icd11.foundation:942572025"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019939", "name": "Early-onset schizophrenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0019352", "MEDGEN:1800824", "Orphanet:96369", "UMLS:C1656427"]}
{"category": ["biolink:Disease"], "description": "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.", "id": "MONDO:0019940", "name": "Hypertrichosis-acromegaloid facial appearance syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["haff", "hypertrichosis-acromegaloid facial features syndrome", "hypertrichosis-coarse face syndrome"], "xref": ["GARD:0000502", "Orphanet:966", "SCTID:721837000"]}
{"category": ["biolink:Disease"], "description": "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.", "id": "MONDO:0019941", "name": "Hereditary sensory and autonomic neuropathy type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HSAN2", "Hereditary Sensory and Autonomic Neuropathy Type II", "autosomal recessive sensory radicular neuropathy", "hereditary sensory and autonomic neuropathy type II", "neurogenic acroosteolysis"], "xref": ["DOID:0070161", "GARD:0003976", "MEDGEN:42513", "NORD:1235", "Orphanet:970", "PMID:21089229", "SCTID:398148000", "UMLS:C0020072"]}
{"category": ["biolink:Disease"], "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "id": "MONDO:0019942", "name": "Distal arthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:0050646", "GARD:0000786", "MEDGEN:120512", "OMIMPS:108120", "Orphanet:97120", "SCTID:24269006", "UMLS:C0265213", "icd11.foundation:1265239690"]}
{"category": ["biolink:Disease"], "description": "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.", "id": "MONDO:0019943", "name": "Hereditary continuous muscle fiber activity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["continuous muscle fiber activity hereditary", "continuous muscle fiber activity, hereditary", "continuous muscle fibre activity hereditary", "continuous muscle fibre activity, hereditary"], "xref": ["GARD:0001512", "MEDGEN:331775", "Orphanet:972", "UMLS:C1834559"]}
{"category": ["biolink:Disease"], "description": "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.", "id": "MONDO:0019944", "name": "Eisenmenger syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Eisenmenger's syndrome"], "xref": ["EFO:0009200", "GARD:0006323", "ICD10CM:I27.83", "MEDGEN:4479", "MESH:D004541", "MedDRA:10058554", "NCIT:C84390", "NORD:1081", "Orphanet:97214", "SCTID:445928005", "UMLS:C0013743", "icd11.foundation:581886860"]}
{"category": ["biolink:Disease"], "description": "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.", "id": "MONDO:0019945", "name": "Solar urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019353", "ICD10CM:L56.3", "ICD9:708.8", "MEDGEN:538004", "MedDRA:10041307", "Orphanet:97230", "SCTID:10347006", "UMLS:C0263610", "icd11.foundation:64163683"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.", "id": "MONDO:0019947", "name": "Rippling muscle disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAV3 autosomal dominant limb-girdle muscular dystrophy", "CAV3 rippling muscle disease", "LGMD1C", "RMD2", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3", "limb-girdle muscular dystrophy due to caveolin-3 deficiency", "muscular dystrophy limb-girdle type IC", "rippling muscle disease 2", "rippling muscle disease caused by mutation in CAV3", "rippling muscle disease type 2"], "xref": ["DOID:0060255", "GARD:0009164", "MEDGEN:371357", "NCIT:C148325", "OMIM:606072", "Orphanet:97238", "UMLS:C1832560"]}
{"category": ["biolink:Disease"], "description": "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.", "id": "MONDO:0019948", "name": "Reducing body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080090", "GARD:0012162", "ICD9:359.89", "MEDGEN:543081", "NANDO:2200875", "Orphanet:97239", "SCTID:42779002", "UMLS:C0270970", "icd11.foundation:397698784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019949", "name": "Zebra body myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019354", "ICD9:359.89", "MEDGEN:543080", "Orphanet:97240", "SCTID:34513009", "UMLS:C0270969", "icd11.foundation:1699813614"]}
{"category": ["biolink:Disease"], "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.", "id": "MONDO:0019950", "name": "Congenital muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMD", "MDC"], "xref": ["DOID:0050557", "GARD:0009138", "ICD9:359.0", "MEDGEN:147063", "Orphanet:97242", "SCTID:240059009", "UMLS:C0699743", "icd11.foundation:396687076"]}
{"category": ["biolink:Disease"], "description": "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.", "id": "MONDO:0019951", "name": "Rigid spine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["rigid spine congenital muscular dystrophy"], "xref": ["GARD:0004723", "MESH:C535683", "Orphanet:97244", "icd11.foundation:801727141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019952", "name": "Congenital myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital myopathy"], "xref": ["DOID:0080100", "DOID:0081337", "GARD:0005898", "MEDGEN:124381", "MedDRA:10062547", "NANDO:1200477", "NANDO:2100234", "OMIMPS:117000", "Orphanet:97245", "UMLS:C0270960", "icd11.foundation:1185572073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019953", "name": "Mega-cisterna magna", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019355", "MEDGEN:344031", "Orphanet:97252", "UMLS:C1853377"]}
{"category": ["biolink:Disease"], "description": "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).", "id": "MONDO:0019954", "name": "Pancreatic neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["islet cell tumor", "islet cell tumors - pancreas", "islet cell tumors of the pancreas", "islet cell tumour", "islet cell tumours - pancreas", "islet cell tumours of the pancreas", "pancreatic NET", "pancreatic neuroendocrine tumor", "well differentiated pancreatic endocrine neoplasm", "well differentiated pancreatic endocrine tumor", "well differentiated pancreatic endocrine tumour", "well-differentiated NEN of pancreas", "well-differentiated neuroendocrine neoplasm of pancreas", "well-differentiated pancreatic NEN", "well-differentiated pancreatic neuroendocrine neoplasm"], "xref": ["EFO:1000045", "GARD:0013034", "ICDO:8150/1", "MEDGEN:277875", "NCIT:C27720", "ONCOTREE:PANET", "Orphanet:97253", "UMLS:C1337011"]}
{"category": ["biolink:Disease"], "description": "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).", "id": "MONDO:0019955", "name": "Grfoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["GRF tumor", "GRF tumour", "Growth hormone releasing factor tumor", "Growth hormone releasing factor tumour"], "xref": ["GARD:0019356", "MEDGEN:577391", "Orphanet:97261", "UMLS:C0346406", "icd11.foundation:1245945716"]}
{"category": ["biolink:Disease"], "description": "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.", "id": "MONDO:0019956", "name": "Encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "xref": ["DOID:9588", "ICD10CM:A85", "ICD9:323.0", "ICD9:323.8", "ICD9:323.9", "MEDGEN:4027", "MESH:D004660", "MedDRA:10014581", "NCIT:C26760", "Orphanet:97275", "SCTID:45170000", "UMLS:C0014038"]}
{"category": ["biolink:Disease"], "description": "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).", "id": "MONDO:0019957", "name": "Ppoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pancreatic polypeptide neoplasm", "pancreatic polypeptide tumor", "pancreatic polypeptide tumour", "pancreatic polypeptidoma"], "xref": ["GARD:0019358", "ICD9:239.89", "ICDO:8152/1", "MEDGEN:577392", "NCIT:C67453", "Orphanet:97278", "SCTID:255039001", "UMLS:C0346407", "icd11.foundation:1180851464"]}
{"category": ["biolink:Disease"], "description": "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.", "id": "MONDO:0019959", "name": "Glucagonoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["glucagonoma", "glucagonoma syndrome", "pancreatic glucagonoma"], "xref": ["GARD:0002496", "MEDGEN:4908", "MESH:D005935", "MedDRA:10018404", "NANDO:2100142", "NANDO:2200397", "NCIT:C95597", "Orphanet:97280", "SCTID:16424000", "UMLS:C0017689", "icd11.foundation:1918063179", "icd11.foundation:2121897507"]}
{"category": ["biolink:Disease"], "description": "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).", "id": "MONDO:0019960", "name": "Vipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Diarrheogenic islet cell tumor", "Diarrheogenic islet cell tumour", "VIP producing neoplasm", "VIP- secreting neoplasm", "VIP- secreting tumor", "VIP- secreting tumour", "VIP-producing NET", "VIP-producing neuroendocrine tumor", "VIP-producing neuroendocrine tumour", "VIP-secreting tumor", "VIP-secreting tumour", "VIPoma", "Verner-Morrison syndrome", "malignant vasoactive intestinal peptide-secreting tumour", "vasoactive intestinal peptide producing neoplasm", "vasoactive intestinal peptide producing tumor", "vasoactive intestinal peptide producing tumour", "vasoactive intestinal peptide secreting neoplasm", "vasoactive intestinal peptide-secreting tumour"], "xref": ["DOID:5574", "GARD:0003787", "ICD9:239.7", "ICDO:8155/1", "MEDGEN:41532", "MESH:D003969", "MedDRA:10047430", "NANDO:2200394", "NCIT:C26749", "Orphanet:97282", "SCTID:253005002", "UMLS:C0011993", "icd11.foundation:20634476"]}
{"category": ["biolink:Disease"], "description": "A lymphoma primarily involving the thyroid gland.", "id": "MONDO:0019962", "name": "Thyroid lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lymphoma of the thyroid", "lymphoma of the thyroid gland", "lymphoma of thyroid", "lymphoma of thyroid gland", "primary thyroid gland lymphoma", "thyroid gland lymphoma", "thyroid lymphoma"], "xref": ["DOID:10011", "GARD:0019359", "MEDGEN:234947", "NCIT:C5265", "Orphanet:97285", "UMLS:C1336753", "icd11.foundation:571063415"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine neoplasm that involves the bronchus.", "id": "MONDO:0019963", "name": "Bronchial endocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["bronchial NET", "bronchus NET", "bronchus neuroendocrine neoplasm", "bronchus neuroendocrine tumor", "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade", "bronchus neuroendocrine tumour", "neuroendocrine neoplasm of bronchus"], "xref": ["GARD:0019360", "Orphanet:97287"]}
{"category": ["biolink:Disease"], "description": "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.", "id": "MONDO:0019964", "name": "Thymic neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neuroendocrine neoplasm of thymus", "thymus NET", "thymus neuroendocrine neoplasm", "thymus neuroendocrine tumor", "thymus neuroendocrine tumor, well differentiated, low or intermediate grade", "thymus neuroendocrine tumour"], "xref": ["GARD:0019361", "MEDGEN:234428", "NCIT:C6430", "ONCOTREE:TNET", "Orphanet:97289", "UMLS:C1336746"]}
{"category": ["biolink:Disease"], "description": "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.", "id": "MONDO:0019967", "name": "Kienbock disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Kienböck Disease", "Lunatomalacia", "Osteochondrosis of the lunate bone", "aseptic necrosis of the lunate bone", "osteochondritis of the lunate bone"], "xref": ["GARD:0009690", "MEDGEN:44028", "MedDRA:10064242", "NORD:1332", "Orphanet:97332", "UMLS:C0022682"]}
{"category": ["biolink:Disease"], "description": "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.", "id": "MONDO:0019969", "name": "Panner disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Osteochondrosis of the capital humerus", "aseptic necrosis of the capital humerus"], "xref": ["GARD:0019365", "MEDGEN:1673235", "Orphanet:97336", "UMLS:C4759831"]}
{"category": ["biolink:Disease"], "description": "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.", "id": "MONDO:0019970", "name": "Sinding-larsen-johansson disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Osteochondrosis of patella", "aseptic necrosis of patella"], "xref": ["GARD:0019366", "MEDGEN:1672493", "MedDRA:10063585", "Orphanet:97337", "UMLS:C1504517", "icd11.foundation:1733785551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019971", "name": "Melanoma of soft tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["clear cell sarcoma of the tendons and aponeuroses"], "xref": ["GARD:0019367", "Orphanet:97338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019972", "name": "Dural sinus malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cranial dural arteriovenous fistula", "cranial dural arteriovenous malformations"], "xref": ["GARD:0019368", "MEDGEN:824993", "Orphanet:97339", "UMLS:C3839148", "icd11.foundation:454640405"]}
{"category": ["biolink:Disease"], "description": "Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.", "id": "MONDO:0019973", "name": "Persistent placoid maculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019369", "MEDGEN:930492", "Orphanet:97341", "SCTID:719297006", "UMLS:C4304823", "icd11.foundation:1143591468"]}
{"category": ["biolink:Disease"], "description": "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.", "id": "MONDO:0019975", "name": "Pellagra", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pellagra"], "xref": ["DOID:8457", "GARD:0010014", "ICD9:265.2", "MEDGEN:45364", "MESH:D010383", "MedDRA:10029400", "Orphanet:97352", "SCTID:418279001", "UMLS:C0030783", "icd11.foundation:1108993080"]}
{"category": ["biolink:Disease"], "description": "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.", "id": "MONDO:0019976", "name": "Dementia pugilistica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Boxer's dementia", "chronic traumatic encephalopathy", "punch-drunk syndrome"], "xref": ["DOID:0081291", "GARD:0019371", "MEDGEN:508441", "MESH:D020208", "Orphanet:97353", "SCTID:230283005", "UMLS:C0149843"]}
{"category": ["biolink:Disease"], "description": "Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.", "id": "MONDO:0019977", "name": "Parkinsonism with dementia of guadeloupe", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019372", "MEDGEN:899794", "Orphanet:97355", "SCTID:715737004", "UMLS:C4275027", "icd11.foundation:773801248"]}
{"category": ["biolink:Disease"], "description": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.", "id": "MONDO:0019978", "name": "Robinow syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Robinow dwarfism", "Robinow-Silverman-Smith syndrome", "acral dysostosis with facial and genital abnormalities", "fetal face syndrome", "foetal face syndrome", "mesomelic dwarfism-small genitalia syndrome"], "xref": ["DOID:0060254", "GARD:0000312", "MEDGEN:78535", "NCIT:C85048", "NORD:1673", "OMIMPS:268310", "Orphanet:97360", "UMLS:C0265205", "icd11.foundation:1010745722"]}
{"category": ["biolink:Disease"], "description": "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.", "id": "MONDO:0019979", "name": "Renal hypoplasia, unilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019373", "ICD10CM:Q60.3", "MEDGEN:609098", "Orphanet:97361", "UMLS:C0431691"]}
{"category": ["biolink:Disease"], "description": "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.", "id": "MONDO:0019980", "name": "Renal hypoplasia, bilateral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019374", "ICD10CM:Q60.4", "MEDGEN:609099", "Orphanet:97362", "SCTID:268232000", "UMLS:C0431692"]}
{"category": ["biolink:Disease"], "description": "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.", "id": "MONDO:0019981", "name": "Unilateral multicystic dysplastic kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["unilateral MCDK", "unilateral multicystic renal dysplasia"], "xref": ["GARD:0019375", "MEDGEN:292613", "Orphanet:97363", "UMLS:C1567426"]}
{"category": ["biolink:Disease"], "description": "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.", "id": "MONDO:0019982", "name": "Bilateral multicystic dysplastic kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["bilateral MCDK", "bilateral multicystic renal dysplasia"], "xref": ["GARD:0009517", "MEDGEN:333563", "Orphanet:97364", "SCTID:717749002", "UMLS:C1840451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019983", "name": "Multiloculated renal cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["multilocular cyst of the kidney", "multilocular renal cyst"], "xref": ["GARD:0019376", "MEDGEN:609113", "NANDO:2200171", "Orphanet:97366", "SCTID:86463003", "UMLS:C0431719"]}
{"category": ["biolink:Disease"], "description": "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).", "id": "MONDO:0019984", "name": "Renal tubular dysgenesis due to twin-twin transfusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019377", "MEDGEN:1766862", "Orphanet:97367", "UMLS:C5438872", "icd11.foundation:122234138"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019985", "name": "Drug-related renal tubular dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019378", "MEDGEN:1771212", "Orphanet:97368", "UMLS:C5438798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0019986", "name": "Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:rare"], "xref": ["Orphanet:97555"]}
{"category": ["biolink:Disease"], "description": "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.", "id": "MONDO:0019988", "name": "Pauci-immune glomerulonephritis with anca", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody"], "xref": ["GARD:0019379", "MEDGEN:1843351", "Orphanet:97563", "UMLS:C5680254"]}
{"category": ["biolink:Disease"], "description": "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.", "id": "MONDO:0019989", "name": "Pauci-immune glomerulonephritis without anca", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis", "pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody"], "xref": ["GARD:0019380", "MEDGEN:1842476", "Orphanet:97564", "UMLS:C5680253"]}
{"category": ["biolink:Disease"], "description": "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.", "id": "MONDO:0019990", "name": "Non-amyloid fibrillary glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Congo red-negative amyloidosis-like glomerulopathy", "Fibrillary Glomerulonephritis", "non-amyloid fibrillary glomerulonephritis"], "xref": ["GARD:0012740", "MEDGEN:907201", "NORD:2024", "Orphanet:97566", "SCTID:718192000", "UMLS:C4273674"]}
{"category": ["biolink:Disease"], "description": "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.", "id": "MONDO:0019991", "name": "Immunotactoid glomerulopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FGN", "Immunotactoid glomerulonephritis", "fibrillary glomerulonephritis"], "xref": ["GARD:0012048", "ICD9:583.9", "MEDGEN:1684714", "NCIT:C158968", "NCIT:C96182", "Orphanet:97567", "SCTID:73305009", "UMLS:C5202806"]}
{"category": ["biolink:Disease"], "description": "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).", "id": "MONDO:0019992", "name": "Pseudohypoparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:4184", "GARD:0010758", "ICD10CM:E20.1", "ICD9:275.49", "MEDGEN:46178", "MESH:D011547", "MedDRA:10037126", "NANDO:1200776", "NANDO:2100126", "NANDO:2200349", "NCIT:C99027", "NORD:1627", "Orphanet:97593", "SCTID:58976002", "UMLS:C0033806", "icd11.foundation:1225154856"]}
{"category": ["biolink:Disease"], "description": "A narrowing of renal arteries that is present since birth.", "id": "MONDO:0019993", "name": "Congenital renal artery stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital RAS", "congenital renovascular hypoplasia"], "xref": ["GARD:0019381", "ICD10CM:Q27.1", "MEDGEN:635552", "Orphanet:97598", "SCTID:271432005", "UMLS:C0495523", "icd11.foundation:856359002"]}
{"category": ["biolink:Disease"], "description": "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.", "id": "MONDO:0019994", "name": "Maternal uniparental disomy of chromosome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(13)mat", "maternal uniparental disomy of chromosome type 13"], "xref": ["GARD:0019382", "MEDGEN:1656812", "Orphanet:97678", "UMLS:C4722325", "icd11.foundation:729188840"]}
{"category": ["biolink:Disease"], "description": "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.", "id": "MONDO:0019995", "name": "Peripheral resistance to thyroid hormones", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012734", "MEDGEN:902322", "Orphanet:97927", "SCTID:718193005", "UMLS:C4273673"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020001", "name": "Respiratory or thoracic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1842800", "Orphanet:97957", "UMLS:C5681559"]}
{"category": ["biolink:Disease"], "description": "A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.", "id": "MONDO:0020007", "name": "Absence of the pulmonary artery", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UAPA", "agenesis of pulmonary artery", "aplasia of pulmonary artery", "pulmonary artery absent", "pulmonary artery agenesis", "unilateral pulmonary artery absence", "unilateral pulmonary artery agenesis"], "xref": ["GARD:0018712", "MEDGEN:120560", "NANDO:2200282", "Orphanet:980", "SCTID:86252004", "UMLS:C0265905", "icd11.foundation:542905766"]}
{"category": ["biolink:Disease"], "description": "A infectious disease that involves the nervous system.", "id": "MONDO:0020010", "name": "Infectious disorder of the nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["nervous system infectious disease", "nervous system infectious disorder"], "xref": ["ICD9:349.89", "MEDGEN:108926", "NCIT:C27590", "Orphanet:98010", "SCTID:128116006", "UMLS:C0597039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020022", "name": "Central nervous system malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019394", "ICD10CM:Q00-Q07", "MEDGEN:374250", "MESH:D009421", "NANDO:2200118", "Orphanet:98044", "UMLS:C1839543"]}
{"category": ["biolink:Disease"], "description": "Differences of sex development in individuals with 46,XY karyotype.", "id": "MONDO:0020040", "name": "46 xy differences of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["46 XY differences of sex development", "46, XY DSD", "46, XY disorder of sexual development", "46,XY DSD", "46,XY disorder of sex development", "46,XY disorders of Sex development"], "xref": ["GARD:0008538", "MEDGEN:414114", "MESH:D058490", "NANDO:2200393", "NCIT:C127171", "Orphanet:98085", "SCTID:8234004", "UMLS:C2751824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020043", "name": "Autosomal recessive congenital cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019412", "MEDGEN:1843070", "Orphanet:98095", "UMLS:C5681519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020044", "name": "Autosomal recessive metabolic cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019413", "MEDGEN:1842756", "Orphanet:98096", "UMLS:C5681517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020046", "name": "Autosomal recessive degenerative and progressive cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019415", "MEDGEN:1842627", "Orphanet:98098", "UMLS:C5681515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020047", "name": "Autosomal recessive syndromic cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019416", "MEDGEN:1843251", "Orphanet:98099", "UMLS:C5681516"]}
{"category": ["biolink:Disease"], "description": "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.", "id": "MONDO:0020048", "name": "Internal carotid agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003012", "MEDGEN:928576", "Orphanet:981", "SCTID:722004001", "UMLS:C4302907", "icd11.foundation:368564890"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which the chromosomal anomaly involves an autosome.", "id": "MONDO:0020049", "name": "Autosomal anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["autosome chromosomal anomaly", "chromosomal anomaly of autosome"], "xref": ["MEDGEN:1843454", "Orphanet:98127", "UMLS:C5681496"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.", "id": "MONDO:0020058", "name": "Gonosome anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["Sex-chromosome anomaly"], "xref": ["ICD9:758.8", "ICD9:758.81", "Orphanet:98155", "SCTID:95462004"]}
{"category": ["biolink:Disease"], "description": "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424", "id": "MONDO:0020064", "name": "Pulmonary valve agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["PVA", "absent pulmonary valve syndrome", "congenital absence of the pulmonary valve"], "xref": ["GARD:0004597", "MEDGEN:576671", "NANDO:2100095", "NANDO:2200280", "Orphanet:982", "SCTID:6996004", "UMLS:C0344983"]}
{"category": ["biolink:Disease"], "description": "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).", "id": "MONDO:0020065", "name": "Combined dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["dystonia-plus syndrome"], "xref": ["GARD:0019432", "MEDGEN:1842879", "Orphanet:98203", "UMLS:C5680244"]}
{"category": ["biolink:Disease"], "description": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.", "id": "MONDO:0020066", "name": "Ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Danlos Disease, Ehlers", "Danlos disease", "Disease, Ehlers Danlos", "Disease, Ehlers-Danlos", "Dystrophia mesodermalis congenita", "EDS", "Ehler Danlos Syndrome", "Ehlers Danlos Disease", "Ehlers Danlos Syndrome", "Ehlers Danlos syndrome", "Ehlers-Danlos Disease", "Ehlers-Danlos syndromes", "Fibrodysplasia elastica generalisata", "Hereditary collagen dysplasia", "Meekeren-Ehlers-Danlos syndrome", "Syndrome, Ehlers-Danlos", "danlos ehlers syndrome", "elastic skin", "skin elastic"], "xref": ["DOID:13359", "GARD:0006322", "ICD10CM:Q79.6", "ICD9:756.83", "MEDGEN:41720", "MESH:D004535", "MedDRA:10014316", "NANDO:1200645", "NANDO:2200607", "NCIT:C34568", "NORD:1080", "OMIMPS:130000", "Orphanet:98249", "SCTID:398114001", "UMLS:C0013720", "icd11.foundation:1122707206"]}
{"category": ["biolink:Disease"], "description": "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.", "id": "MONDO:0020067", "name": "Infectious encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["encephalitis infection"], "xref": ["GARD:0025151", "ICD9:049.8", "ICD9:323.4", "MEDGEN:108917", "MESH:D000069544", "NCIT:C79550", "SCTID:312215006", "UMLS:C0596773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020068", "name": "Postinfectious encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:10993", "GARD:0025152", "ICD9:323.6", "MEDGEN:581376", "MedDRA:10057235", "Orphanet:98253", "SCTID:192727001", "UMLS:C0393459"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome that has an onset during the neonatal stage of life.", "id": "MONDO:0020070", "name": "Neonatal epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019435", "Orphanet:98257"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome that occurs between 28 days to one year of life.", "id": "MONDO:0020071", "name": "Infantile epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar", "mondo:rare"], "synonym": ["epilepsy syndrome of infancy", "infantile epilepsy syndrome", "infantile onset epilepsy syndrome"], "xref": ["GARD:0019436", "Orphanet:98258"]}
{"category": ["biolink:Disease"], "description": "A epilepsy syndrome that occurs during childhood.", "id": "MONDO:0020072", "name": "Childhood-onset epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["childhood epilepsy syndrome", "childhood-onset epilepsy syndrome", "epilepsy syndrome of childhood", "paediatric epilepsy syndrome", "pediatric epilepsy syndrome"], "xref": ["GARD:0019437", "MEDGEN:1843031", "Orphanet:98259", "UMLS:C5681526"]}
{"category": ["biolink:Disease"], "description": "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.", "id": "MONDO:0020074", "name": "Progressive myoclonus epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PME", "epilepsy, progressive myoclonic", "progressive myoclonic epilepsy", "progressive myoclonic epilepsy (disorder) [ambiguous]", "progressive myoclonus epilepsy"], "xref": ["DOID:891", "GARD:0007140", "MEDGEN:199732", "MESH:D020191", "NANDO:1200953", "NANDO:2100237", "NCIT:C7636", "NORD:1617", "OMIMPS:254800", "Orphanet:98261", "SCTID:267581004", "UMLS:C0751778", "icd11.foundation:173613583"]}
{"category": ["biolink:Disease"], "description": "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)", "id": "MONDO:0020076", "name": "Myeloproliferative neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["CMPD", "MPD", "MPN", "chronic myeloproliferative disease", "chronic myeloproliferative disorder", "chronic myeloproliferative neoplasm", "myeloproliferative disorder", "myeloproliferative neoplasm", "myeloproliferative neoplasm, chronic", "myeloproliferative tumor", "myeloproliferative tumour"], "xref": ["DOID:2226", "EFO:0002428", "GARD:0009319", "ICD9:238.79", "ICDO:9960/3", "ICDO:9975/1", "MEDGEN:220955", "MedDRA:10028576", "NCIT:C4345", "ONCOTREE:MPN", "Orphanet:98274", "SCTID:425333006", "UMLS:C1292778"]}
{"category": ["biolink:Disease"], "description": "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.", "id": "MONDO:0020077", "name": "Myelodysplastic/myeloproliferative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009351", "MESH:D054437", "Orphanet:98275"]}
{"category": ["biolink:Disease"], "description": "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.", "id": "MONDO:0020082", "name": "Dendritic cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0008317", "MEDGEN:1842732", "Orphanet:98289", "SCTID:737223000", "UMLS:C5681852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020083", "name": "Immunodeficiency-associated lymphoproliferative disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019443", "MEDGEN:1843142", "NCIT:C150672", "Orphanet:98290", "UMLS:C5681530", "icd11.foundation:1678636940"]}
{"category": ["biolink:Disease"], "description": "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0020087", "name": "Hereditary lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic lipodystrophy", "genetic lipodystrophy (disease)"], "xref": ["GARD:0012597", "MEDGEN:1383706", "Orphanet:98305", "SCTID:724841000", "UMLS:C4511302", "icd11.foundation:1166232738"]}
{"category": ["biolink:Disease"], "description": "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.", "id": "MONDO:0020088", "name": "Familial partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["FPLD", "congenital partial lipodystrophy", "genetic partial lipodystrophy", "lipodystrophy, familial partial"], "xref": ["DOID:0050440", "GARD:0011962", "MEDGEN:124408", "MESH:D052496", "NANDO:1200861", "NCIT:C84708", "NORD:1131", "OMIMPS:151660", "Orphanet:98306", "SCTID:49292002", "UMLS:C0271694", "icd11.foundation:1661968243"]}
{"category": ["biolink:Disease"], "description": "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.", "id": "MONDO:0020089", "name": "Acquired lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["acquired lipodystrophy (disease)"], "xref": ["GARD:0012602", "MEDGEN:798705", "MedDRA:10049287", "Orphanet:98307", "UMLS:C0877192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020099", "name": "Inherited sideroblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["constitutional sideroblastic anaemia", "constitutional sideroblastic anemia"], "xref": ["GARD:0019453", "MEDGEN:65119", "NANDO:1200892", "OMIMPS:300751", "Orphanet:98362", "UMLS:C0221018", "icd11.foundation:789053868"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020102", "name": "Hereditary stomatocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["hereditary stomatocytic disease"], "xref": ["GARD:0019456", "ICD9:282.8", "MEDGEN:490161", "NANDO:2200623", "Orphanet:98365", "SCTID:14087004", "UMLS:C1262483", "icd11.foundation:2067120097"]}
{"category": ["biolink:Disease"], "description": "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.", "id": "MONDO:0020108", "name": "Autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["AHA", "AIHA", "Anemia, Hemolytic, Acquired Autoimmune", "autoimmune haemolytic anemia", "autoimmune hemolytic anemia"], "xref": ["CSP:0427-1178", "DOID:718", "EFO:1001264", "GARD:0005870", "ICD9:283.0", "MEDGEN:1918", "MESH:D000744", "MedDRA:10002046", "NANDO:1200305", "NANDO:2100181", "NCIT:C34378", "NORD:774", "OMIM:205700", "Orphanet:98375", "SCTID:413603009", "UMLS:C0002880", "icd11.foundation:1834341306"]}
{"category": ["biolink:Disease"], "description": "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.", "id": "MONDO:0020110", "name": "Pulmonary agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of lung"], "xref": ["GARD:0009119", "ICD10CM:Q33.3", "ICD9:748.5", "MEDGEN:82722", "MESH:C562992", "MedDRA:10037322", "NCIT:C99028", "Orphanet:984", "SCTID:66489009", "UMLS:C0265780", "icd11.foundation:134836096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020112", "name": "Vitamin b12- and folate-independent constitutional megaloblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019464", "MEDGEN:1842832", "Orphanet:98415", "UMLS:C5681710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020113", "name": "Primary acquired red cell aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["primary autoimmune red cell aplasia"], "xref": ["GARD:0019465", "MedDRA:10038184", "Orphanet:98421"]}
{"category": ["biolink:Disease"], "description": "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).", "id": "MONDO:0020115", "name": "Secondary polycythemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["secondary erythrocytosis", "secondary polycythemia"], "xref": ["GARD:0019467", "ICD10CM:D75.1", "MEDGEN:231144", "MedDRA:10036062", "NCIT:C27178", "Orphanet:98428", "UMLS:C1318533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020117", "name": "Alpha granule disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019469", "MEDGEN:1842309", "Orphanet:98455", "UMLS:C5681720", "icd11.foundation:237567451"]}
{"category": ["biolink:Disease"], "description": "A syndromic intellectual disability with an X-linked mode of inheritance.", "id": "MONDO:0020119", "name": "X-linked syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["X-linked syndromic intellectual disability", "intellectual disability, X-linked syndromic", "mental retardation, X-linked syndromic", "syndromic X-linked intellectual disability", "syndromic intellectual disability, X-linked"], "xref": ["DOID:0060309", "OMIMPS:309510", "Orphanet:98464"]}
{"category": ["biolink:Disease"], "description": "A disease involving the skeletal muscle tissue.", "id": "MONDO:0020120", "name": "Skeletal muscle disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar"], "synonym": ["disease of skeletal muscle tissue", "disease or disorder of skeletal muscle tissue", "disorder of skeletal muscle tissue", "skeletal muscle tissue disease", "skeletal muscle tissue disease or disorder"], "xref": ["MEDGEN:735900", "MedDRA:10028641", "Orphanet:98472", "SCTID:75047002", "UMLS:C1533847"]}
{"category": ["biolink:Disease"], "description": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.", "id": "MONDO:0020121", "name": "Muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:9884", "GARD:0007922", "ICD10CM:G71.0", "ICD9:359.1", "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", "NANDO:2100233", "NCIT:C84910", "Orphanet:98473", "SCTID:73297009", "UMLS:C0026850", "icd11.foundation:1464662404"]}
{"category": ["biolink:Disease"], "description": "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.", "id": "MONDO:0020122", "name": "Acquired idiopathic inflammatory myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["IIm", "IMM", "idiopathic inflammatory myopathies", "idiopathic inflammatory myositis"], "xref": ["GARD:0009128", "ICD9:359.79", "Orphanet:98482", "icd11.foundation:464294586"]}
{"category": ["biolink:Disease"], "description": "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.", "id": "MONDO:0020123", "name": "Metabolic myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019472", "ICD9:359.89", "MEDGEN:452364", "MedDRA:10068836", "NCIT:C98985", "Orphanet:98486", "SCTID:26111005", "UMLS:C0270984"]}
{"category": ["biolink:Disease"], "description": "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.", "id": "MONDO:0020124", "name": "Neuromuscular junction disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["DOID:439", "GARD:0019473", "MEDGEN:155665", "MESH:D020511", "Orphanet:98491", "SCTID:128213006", "UMLS:C0751950"]}
{"category": ["biolink:Disease"], "description": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0020127", "name": "Hereditary peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic peripheral neuropathy"], "xref": ["GARD:0010711", "MEDGEN:1825937", "Orphanet:98497", "UMLS:C5681733"]}
{"category": ["biolink:Disease"], "description": "Neurological disease involving the motor neuron.", "id": "MONDO:0020128", "name": "Motor neuron disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["anterior horn cell disease", "disease of motor neuron", "disease or disorder of motor neuron", "disorder of motor neuron", "motor neuron disease", "motor neuron disease or disorder"], "xref": ["DOID:231", "EFO:0003782", "GARD:0019477", "ICD10CM:G12.2", "ICD9:335.2", "ICD9:335.8", "ICD9:335.9", "MEDGEN:38785", "MESH:D016472", "MedDRA:10028003", "Orphanet:98503", "SCTID:37340000", "UMLS:C0085084", "icd11.foundation:661720689"]}
{"category": ["biolink:Disease"], "description": "An instance of motor neuron disease that is acquired during the lifetime of the individual.", "id": "MONDO:0020129", "name": "Acquired motor neuron disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["acquired anterior horn cell disease", "acquired motor neuron disease"], "xref": ["GARD:0019479", "MEDGEN:1842733", "Orphanet:98506", "UMLS:C5680367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020134", "name": "Cystic malformation of the posterior fossa", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025153", "ICD9:742.4", "MEDGEN:783289", "Orphanet:98520", "SCTID:35111000119109", "UMLS:C3662134"]}
{"category": ["biolink:Disease"], "description": "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.", "id": "MONDO:0020135", "name": "Pontocerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["PCH", "pontocerebellar hypoplasia", "pontoneocerebellar atrophy", "pontoneocerebllar hypoplasia"], "xref": ["DOID:0060264", "GARD:0010977", "MEDGEN:224703", "MESH:C580383", "NORD:1596", "OMIMPS:607596", "Orphanet:98523", "SCTID:45163000", "UMLS:C1261175", "icd11.foundation:1565266279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020143", "name": "Cerebral lipidosis with dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cerebral lipidosis"], "xref": ["DOID:10742", "GARD:0019491", "ICD9:330.1", "MEDGEN:1825994", "Orphanet:98544", "SCTID:16517004", "UMLS:C5681730"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.", "id": "MONDO:0020153", "name": "Cryptophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["cryptophthalmos"], "xref": ["DOID:0111716", "GARD:0010505", "ICD9:743.06", "MEDGEN:81386", "NCIT:C124520", "Orphanet:98562", "SCTID:400951005", "UMLS:C0311249", "icd11.foundation:740223582"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020159", "name": "Congenital entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:Q10.2", "MEDGEN:540011", "MedDRA:10014923", "Orphanet:98568", "SCTID:20392000", "UMLS:C0266579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020161", "name": "Congenital ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019502", "ICD10CM:Q10.1", "MEDGEN:540010", "Orphanet:98570", "SCTID:26590002", "UMLS:C0266578", "icd11.foundation:945558601"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the skin of eyelid.", "id": "MONDO:0020172", "name": "Palpebral epidermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of skin of eyelid", "skin of eyelid neoplasm", "skin of eyelid neoplasm (disease)", "skin of eyelid tumor", "skin of eyelid tumour", "tumor of skin of eyelid", "tumour of skin of eyelid"], "xref": ["MEDGEN:712469", "Orphanet:98581", "SCTID:126499002", "UMLS:C1290083"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the skin of eyelid.", "id": "MONDO:0020173", "name": "Benign tumor of palpebral epidermis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["skin of eyelid benign neoplasm"], "xref": ["Orphanet:98582"]}
{"category": ["biolink:Disease"], "description": "A melanocytic nevus that involves the skin of eyelid.", "id": "MONDO:0020179", "name": "Palpebral nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eyelid nevus", "melanocytic nevus of skin of eyelid", "nevus of eyelid", "nevus of the eyelid", "skin of eyelid melanocytic nevus"], "xref": ["MEDGEN:65985", "NCIT:C3880", "Orphanet:98588", "SCTID:231827008", "UMLS:C0239460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020183", "name": "Neurogenic palpebral tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["Orphanet:98593"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.", "id": "MONDO:0020204", "name": "Conjunctival tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["conjunctiva neoplasm", "conjunctiva neoplasm (disease)", "conjunctiva tumor", "conjunctiva tumour", "conjunctival neoplasm", "conjunctival neoplasms", "conjunctival tumor", "neoplasm of conjunctiva", "neoplasm of the conjunctiva", "tumor of conjunctiva", "tumor of the conjunctiva", "tumour of conjunctiva", "tumour of the conjunctiva"], "xref": ["MEDGEN:3208", "NCIT:C2961", "Orphanet:98616", "UMLS:C0009761"]}
{"category": ["biolink:Disease"], "description": "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.", "id": "MONDO:0020212", "name": "Superficial corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["anterior corneal dystrophy", "corneal epithelium corneal dystrophy (disease)", "dystrophy of anterior cornea"], "xref": ["ICD9:371.52", "MEDGEN:746687", "Orphanet:98625", "SCTID:430888006", "UMLS:C2315777"]}
{"category": ["biolink:Disease"], "description": "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.", "id": "MONDO:0020213", "name": "Stromal corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["corneal dystrophy (disease) of substantia propria of cornea", "corneal stromal dystrophy", "substantia propria of cornea corneal dystrophy (disease)"], "xref": ["DOID:0060442", "GARD:0019519", "ICD9:371.56", "MEDGEN:20973", "Orphanet:98626", "SCTID:231931001", "UMLS:C0038457", "icd11.foundation:1392780216"]}
{"category": ["biolink:Disease"], "description": "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.", "id": "MONDO:0020214", "name": "Posterior corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019520", "ICD9:371.58", "MEDGEN:810969", "Orphanet:98627", "SCTID:35091000119101", "UMLS:C2063478", "icd11.foundation:570101963"]}
{"category": ["biolink:Disease"], "description": "Macular dystrophy that is related to a change in a gene.", "id": "MONDO:0020242", "name": "Hereditary macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["genetic macular dystrophy", "genetic macular dystrophy (disease)"], "xref": ["GARD:0025154", "MEDGEN:137919", "NANDO:1200931", "NCIT:C140264", "Orphanet:98664", "SCTID:276436007", "UMLS:C0339508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020246", "name": "Inherited vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019539", "HP:0007773", "Orphanet:98668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020247", "name": "Congenital vitreoretinal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["vitreoretinal dysplasia"], "xref": ["GARD:0025155", "ICD9:743.56", "MEDGEN:757909", "Orphanet:98669", "SCTID:449866003", "UMLS:C3266134", "icd11.foundation:44221751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020248", "name": "Vitreoretinal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["degenerative vitreoretinopathy"], "xref": ["GARD:0005506", "HP:0007964", "MEDGEN:87480", "Orphanet:98670", "SCTID:247182006", "UMLS:C0344290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020249", "name": "Hereditary optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019540", "MedDRA:10061323", "Orphanet:98671", "icd11.foundation:2452831"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.", "id": "MONDO:0020250", "name": "Autosomal dominant optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ADOA", "DOA", "optic atrophy, autosomal dominant"], "xref": ["GARD:0011972", "MEDGEN:1647918", "MESH:D029241", "NCIT:C84577", "Orphanet:98672", "SCTID:2065009", "UMLS:C4551508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020252", "name": "Essential strabismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["Orphanet:98682"]}
{"category": ["biolink:Disease"], "description": "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.", "id": "MONDO:0020257", "name": "Supranuclear oculomotor palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["supranuclear eye movement disorder"], "xref": ["GARD:0019546", "MEDGEN:1842980", "Orphanet:98687", "UMLS:C5681698"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.", "id": "MONDO:0020283", "name": "Uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["inflammation of uvea", "uvea inflammation", "uveitis", "uveitis (disease)"], "xref": ["DOID:13141", "EFO:1001231", "GARD:0019549", "HP:0000554", "MEDGEN:52961", "MESH:D014605", "MedDRA:10046851", "NCIT:C26909", "Orphanet:98715", "SCTID:128473001", "UMLS:C0042164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020289", "name": "Congenital tricuspid malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019555", "HP:0001702", "MEDGEN:1842501", "Orphanet:98721", "UMLS:C5681691"]}
{"category": ["biolink:Disease"], "description": "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.", "id": "MONDO:0020290", "name": "Familial atrioventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["Atrioventricular Septal Defect"], "xref": ["DOID:0050651", "GARD:0000802", "ICD10CM:Q21.2", "ICD9:745.6", "ICD9:745.60", "ICD9:745.69", "NCIT:C101029", "NORD:821", "OMIMPS:606215", "Orphanet:98722", "SCTID:15459006"]}
{"category": ["biolink:Disease"], "description": "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.", "id": "MONDO:0020291", "name": "Hypoplastic right heart syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["right hypoplastic heart syndrome"], "xref": ["DOID:0070315", "GARD:0002922", "ICD10CM:Q22.6", "ICD9:746.89", "MEDGEN:83376", "MedDRA:10050053", "MedDRA:10064962", "NCIT:C99053", "Orphanet:98723", "SCTID:268180007", "UMLS:C0344963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020292", "name": "Congenital anomaly of the great arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["congenital aorta, aortic arch or pulmonary arteries anomaly"], "xref": ["GARD:0019556", "MEDGEN:798768", "MedDRA:10061080", "Orphanet:98724", "UMLS:C0948632"]}
{"category": ["biolink:Disease"], "description": "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.", "id": "MONDO:0020295", "name": "Congenital pulmonary veins anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital anomaly of pulmonary veins"], "xref": ["GARD:0019559", "MEDGEN:539575", "NCIT:C110942", "Orphanet:98729", "SCTID:111322000", "UMLS:C0265914"]}
{"category": ["biolink:Disease"], "description": "A congenital vascular disorder characterized byan abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.", "id": "MONDO:0020296", "name": "Congenital arteriovenous fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["congenital arteriovenous shunt"], "xref": ["GARD:0019560", "MEDGEN:137676", "MESH:D001164", "MedDRA:10003226", "NCIT:C35377", "Orphanet:98731", "SCTID:234148007", "UMLS:C0332965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020297", "name": "Noonan syndrome and noonan-related syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019561", "MEDGEN:1826127", "MESH:C537846", "Orphanet:98733", "UMLS:C5681679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020298", "name": "Prader-willi syndrome due to maternal uniparental disomy of chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15", "UPD(15)mat"], "xref": ["GARD:0016861", "MEDGEN:1826079", "Orphanet:98754", "UMLS:C5680343"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020301", "name": "Prader-willi syndrome due to paternal 15q11q13 deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019576", "MEDGEN:1826129", "Orphanet:98793", "UMLS:C5681699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020302", "name": "Angelman syndrome due to maternal 15q11q13 deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Angelman syndrome due to maternal monosomy 15q11q13"], "xref": ["GARD:0019577", "MEDGEN:1797757", "Orphanet:98794", "UMLS:C5566334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020303", "name": "Angelman syndrome due to paternal uniparental disomy of chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Angelman syndrome due to paternal uniparental disomy of chromosome type 15", "UPD(15)pat"], "xref": ["GARD:0019578", "MEDGEN:1826078", "Orphanet:98795", "UMLS:C5680342"]}
{"category": ["biolink:Disease"], "description": "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.", "id": "MONDO:0020304", "name": "Isochromosomy yp", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019579", "MEDGEN:1640451", "Orphanet:98797", "SCTID:766708008", "UMLS:C4707793"]}
{"category": ["biolink:Disease"], "description": "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.", "id": "MONDO:0020305", "name": "Isochromosomy yq", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019580", "MEDGEN:1665766", "Orphanet:98798", "UMLS:C4749291"]}
{"category": ["biolink:Disease"], "description": "A childhood-onset self-limited focal epilepsy syndrome characterized by the onset in early childhood of focal autonomic seizures that are often prolonged. The EEG commonly shows high amplitude focal spikes typically activated by sleep. Seizures are infrequent in most patients. Seizures are self-limiting with remission typically within a few years from onset.", "id": "MONDO:0020307", "name": "Self-limited epilepsy with autonomic seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Panayiotopoulos syndrome", "SeLEAS", "benign childhood occipital epilepsy, Panayiotopoulos type", "early onset benign occipital epilepsy", "early-onset benign childhood occipital epilepsy"], "xref": ["GARD:0019581", "ICD9:345.80", "MEDGEN:581520", "Orphanet:98815", "SCTID:230387008", "UMLS:C0393676"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.", "id": "MONDO:0020308", "name": "Childhood occipital visual epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["COVE", "benign childhood occipital epilepsy, Gastaut type", "childhood occipital epilepsy (Gastaut type)", "late-onset benign childhood occipital epilepsy"], "xref": ["GARD:0019582", "MEDGEN:581521", "Orphanet:98816", "UMLS:C0393677"]}
{"category": ["biolink:Disease"], "description": "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.", "id": "MONDO:0020310", "name": "Familial focal epilepsy with variable foci", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["FFEVF", "epilepsy, familial focal, with variable foci", "familial focal epilepsy with variable foci", "familial partial epilepsy with variable foci"], "xref": ["DOID:0081420", "GARD:0013295", "MEDGEN:348951", "MESH:C565785", "OMIMPS:604364", "Orphanet:98820", "SCTID:764522009", "UMLS:C1858477", "icd11.foundation:855404450"]}
{"category": ["biolink:Disease"], "description": "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.", "id": "MONDO:0020311", "name": "Chronic myelomonocytic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMML", "chronic myelomonocytic leukaemia (CMML)", "chronic myelomonocytic leukemia", "chronic myelomonocytic leukemia (CMML)"], "xref": ["DOID:0080188", "EFO:1001779", "GARD:0008225", "ICD10CM:C93.1", "ICDO:9945/3", "MEDGEN:44125", "MESH:D015477", "MedDRA:10009018", "NANDO:2200014", "NCIT:C3178", "ONCOTREE:CMML", "Orphanet:98823", "SCTID:127225006", "UMLS:C0023480", "icd11.foundation:2073226578"]}
{"category": ["biolink:Disease"], "description": "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.", "id": "MONDO:0020316", "name": "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["16)(p13", "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16", "q22)"], "xref": ["GARD:0000536", "MEDGEN:1716406", "NCIT:C9287", "Orphanet:98829", "UMLS:C5395080", "icd11.foundation:808954959"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.", "id": "MONDO:0020317", "name": "Acute myeloid leukemia with 11q23 abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["11)(p21.3", "11)(p22", "11)(p22.3", "AML with 11q23 abnormalities", "AML with t(9", "MLLT3-KMT2A", "MLLT3-MLL", "acute myeloid Leukaemia with t(9", "acute myeloid Leukemia with t(9", "acute myeloid leukaemia with 11q23 (MLL) abnormalities", "acute myeloid leukaemia with MLL abnormalities", "acute myeloid leukaemia with t(9", "acute myeloid leukemia with 11q23 (MLL) abnormalities", "acute myeloid leukemia with MLL abnormalities", "acute myeloid leukemia with t(9", "q23)", "q23.3)"], "xref": ["GARD:0019587", "ICDO:9897/3", "MEDGEN:266234", "NCIT:C82403", "Orphanet:98831", "SCTID:444911000", "UMLS:C1292775"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)", "id": "MONDO:0020320", "name": "Acute myeloblastic leukemia with maturation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AML M2", "AML with maturation", "FAB M2", "M2 acute granulocytic leukaemia", "M2 acute granulocytic leukemia", "M2 acute myeloblastic leukaemia", "M2 acute myeloblastic leukaemia with maturation", "M2 acute myeloblastic leukemia", "M2 acute myeloblastic leukemia with maturation", "M2 acute myelocytic leukaemia with maturation", "M2 acute myelocytic leukemia with maturation", "M2 acute myelogenous leukaemia", "M2 acute myelogenous leukaemia with maturation", "M2 acute myelogenous leukemia", "M2 acute myelogenous leukemia with maturation", "M2 acute myeloid leukaemia", "M2 acute myeloid leukaemia with maturation", "M2 acute myeloid leukemia", "M2 acute myeloid leukemia with maturation", "acute M2 myeloid leukaemia", "acute M2 myeloid leukemia", "acute myeloblastic leukaemia M2", "acute myeloblastic leukemia M2", "acute myelocytic leukaemia with maturation", "acute myelocytic leukemia with maturation", "acute myelogenous leukaemia with maturation", "acute myelogenous leukemia with maturation", "acute myeloid leukaemia (AML-M2)", "acute myeloid leukaemia with maturation", "acute myeloid leukemia (AML-M2)", "acute myeloid leukemia with maturation"], "xref": ["DOID:0081087", "EFO:0003028", "GARD:0000527", "ICDO:9874/3", "MEDGEN:361829", "NANDO:2200006", "NCIT:C3250", "ONCOTREE:AM", "Orphanet:98834", "UMLS:C1879321"]}
{"category": ["biolink:Disease"], "description": "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.", "id": "MONDO:0020321", "name": "Acute undifferentiated leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acute myeloid leukemia, minimal differentiation, FAB M0", "acute undifferentiated leukemia", "leukaemia stem cell", "leukemia stem cell", "stem cell acute leukaemia", "stem cell acute leukemia", "stem cell leukaemia", "stem cell leukemia", "undifferentiated acute leukaemia", "undifferentiated acute leukemia"], "xref": ["GARD:0016863", "MEDGEN:79081", "MedDRA:10045516", "NANDO:2200017", "NCIT:C9298", "ONCOTREE:AUL", "Orphanet:98835", "SCTID:359631009", "UMLS:C0280141"]}
{"category": ["biolink:Disease"], "description": "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)", "id": "MONDO:0020322", "name": "Acute biphenotypic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["B- and T-cell mixed leukaemia", "B- and T-cell mixed leukemia"], "xref": ["DOID:9953", "EFO:1000828", "GARD:0025156", "ICD9:207.80", "ICDO:9805/3", "MEDGEN:7318", "MESH:D015456", "MedDRA:10067399", "NCIT:C4673", "Orphanet:98837", "SCTID:278453007", "UMLS:C0023464"]}
{"category": ["biolink:Disease"], "description": "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)", "id": "MONDO:0020323", "name": "Primary mediastinal large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["B-cell diffuse large cell lymphoma of mediastinum", "B-cell diffuse large cell lymphoma of the mediastinum", "Med-DLBCL", "PMBL", "PMLCL", "large cell lymphoma of the mediastinum", "mediastinal (thymic) large B-cell lymphoma", "mediastinal B-cell diffuse large cell lymphoma", "mediastinal diffuse large cell lymphoma with sclerosis", "mediastinal diffuse large-cell lymphoma with sclerosis", "mediastinal large B-cell lymphoma", "primary mediastinal clear cell lymphoma of B-cell type", "primary mediastinal large B-cell lymphoma"], "xref": ["DOID:0080210", "GARD:0019589", "ICD10CM:C85.2", "ICDO:9679/3", "MEDGEN:714984", "MedDRA:10036710", "NCIT:C9280", "ONCOTREE:PMBL", "Orphanet:98838", "SCTID:444910004", "UMLS:C1292754", "icd11.foundation:950282079"]}
{"category": ["biolink:Disease"], "description": "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.", "id": "MONDO:0020324", "name": "Intravascular large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Tappeiner-Pfleger disease", "angioendotheliomatosis proliferans systemisata", "angiotropic large cell lymphoma", "angiotropic lymphoma", "intravascular B-cell lymphoma", "intravascular large B-cell lymphoma", "intravascular lymphomatosis", "malignant angioendotheliomatosis"], "xref": ["DOID:0081311", "GARD:0019590", "ICD9:202.80", "ICDO:9712/3", "MEDGEN:90821", "MedDRA:10069643", "NCIT:C4342", "ONCOTREE:IVBCL", "Orphanet:98839", "SCTID:255102004", "UMLS:C0334660", "icd11.foundation:952730197"]}
{"category": ["biolink:Disease"], "description": "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.", "id": "MONDO:0020325", "name": "Anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALCL", "CD30 Positive anaplastic large cell lymphoma", "CD30 positive anaplastic large cell lymphoma", "Ki-1 lymphoma", "Ki-1 positive anaplastic large cell lymphoma", "Ki-1+ ALCL", "Ki-1+ anaplastic large cell lymphoma", "anaplastic large cell lymphoma", "primary systemic ALCL", "sACL"], "xref": ["DOID:0050744", "EFO:0003032", "GARD:0003112", "HGNC:427", "ICD9:200.6", "ICD9:200.60", "ICDO:9714/3", "MEDGEN:61533", "MESH:D017728", "NANDO:2200021", "NCIT:C3720", "ONCOTREE:ALCL", "Orphanet:98841", "SCTID:277637000", "UMLS:C0206180"]}
{"category": ["biolink:Disease"], "description": "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.", "id": "MONDO:0020326", "name": "Lymphomatoid papulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LyP"], "xref": ["GARD:0006944", "ICD9:447.8", "ICDO:9718/1", "MEDGEN:61534", "MESH:D017731", "MedDRA:10056670", "NCIT:C3721", "ONCOTREE:LYP", "Orphanet:98842", "SCTID:31047003", "UMLS:C0206182", "icd11.foundation:1791207220"]}
{"category": ["biolink:Disease"], "description": "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.", "id": "MONDO:0020331", "name": "Indolent systemic mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ISM", "indolent systemic mastocytosis (morphologic abnormality)", "ism"], "xref": ["DOID:4660", "GARD:0019595", "ICDO:9741/1", "MEDGEN:82897", "MedDRA:10056452", "NCIT:C9286", "ONCOTREE:ISM", "Orphanet:98848", "SCTID:70910003", "UMLS:C0272203", "icd11.foundation:353283231"]}
{"category": ["biolink:Disease"], "description": "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).", "id": "MONDO:0020332", "name": "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SM-AHN", "SM-AHNMD", "SMAHN", "systemic mastocytosis with an associated haematological neoplasm", "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)", "systemic mastocytosis with an associated hematological neoplasm", "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)", "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease", "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease", "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease", "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)", "systemic mastocytosis with associated hematologic neoplasm"], "xref": ["DOID:4797", "EFO:1000559", "GARD:0019596", "ICDO:9741/3", "MEDGEN:226985", "NCIT:C9284", "ONCOTREE:SMAHN", "Orphanet:98849", "SCTID:397015000", "UMLS:C1301365"]}
{"category": ["biolink:Disease"], "description": "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.", "id": "MONDO:0020333", "name": "Aggressive systemic mastocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ASM", "aggressive systemic mastocytosis (morphologic abnormality)"], "xref": ["DOID:4798", "GARD:0019597", "ICD10CM:C96.21", "ICDO:9741/3", "MEDGEN:206813", "MedDRA:10056453", "NCIT:C9285", "ONCOTREE:ASM", "Orphanet:98850", "SCTID:716655008", "UMLS:C1112486", "icd11.foundation:870477963"]}
{"category": ["biolink:Disease"], "description": "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.", "id": "MONDO:0020334", "name": "Mast cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mast cell leukaemia", "Mast cell leukemia", "aleukemic mast cell leukaemia", "aleukemic mast cell leukemia", "mast-cell leukaemia", "mast-cell leukemia"], "xref": ["DOID:9254", "EFO:0007359", "GARD:0019598", "ICDO:9742/3", "MEDGEN:44123", "MESH:D007946", "MedDRA:10056450", "NCIT:C3169", "ONCOTREE:SMMCL", "Orphanet:158799", "Orphanet:98851", "SCTID:110002002", "UMLS:C0023461", "icd11.foundation:1359806843"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of Emery-Dreifuss muscular dystrophy.", "id": "MONDO:0020336", "name": "Autosomal dominant emery-dreifuss muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Emery-Dreifuss muscular dystrophy, autosomal dominant", "autosomal dominant Emery-Dreifuss muscular dystrophy"], "xref": ["GARD:0016865", "Orphanet:98853", "icd11.foundation:15480497"]}
{"category": ["biolink:Disease"], "description": "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.", "id": "MONDO:0020337", "name": "Congenital dyserythropoietic anemia type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDA I", "CDA type 1", "CDA type I", "congenital dyserythropoietic anemia type 1"], "xref": ["DOID:0111396", "GARD:0002000", "MEDGEN:82891", "NANDO:1200886", "Orphanet:98869", "SCTID:59548005", "UMLS:C0271933"]}
{"category": ["biolink:Disease"], "description": "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.", "id": "MONDO:0020338", "name": "Adult pure red cell aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adult pure red-cell aplasia", "pure red-cell aplasia of adults"], "xref": ["GARD:0010898", "MEDGEN:1647585", "NANDO:1200889", "NANDO:2200613", "NCIT:C70548", "Orphanet:98872", "SCTID:765748009", "UMLS:C4707560", "icd11.foundation:45753120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020340", "name": "Bilateral perisylvian polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080924", "GARD:0006011", "MEDGEN:337000", "Orphanet:98889", "UMLS:C1845668", "icd11.foundation:1882677643"]}
{"category": ["biolink:Disease"], "description": "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.", "id": "MONDO:0020341", "name": "Periventricular nodular heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["periventricular nodular heterotopia"], "xref": ["DOID:0050454", "GARD:0012724", "MEDGEN:358387", "MESH:D054091", "MedDRA:10066854", "NANDO:1201079", "OMIMPS:300049", "Orphanet:98892", "UMLS:C1868720", "icd11.foundation:20200096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020344", "name": "Postsynaptic congenital myasthenic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0015022", "MEDGEN:199758", "Orphanet:98913", "UMLS:C0751883"]}
{"category": ["biolink:Disease"], "description": "An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).", "id": "MONDO:0020347", "name": "Acute inflammatory demyelinating polyradiculoneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AIDP", "GBS, acute inflammatory demyelinating polyradiculoneuropathic form", "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form", "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form", "acute idiopathic demyelinating polyneuropathy", "acute inflammatory demyelinating polyradiculopathy", "acute inflammatory polyneuropathy"], "xref": ["GARD:0016873", "MEDGEN:1648220", "NCIT:C116926", "Orphanet:98916", "UMLS:C4551910", "icd11.foundation:1196874419"]}
{"category": ["biolink:Disease"], "description": "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).", "id": "MONDO:0020348", "name": "Acute motor and sensory axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AMSAN", "acute motor-sensory axonal GBS", "acute motor-sensory axonal Guillain-Barre syndrome", "acute motor-sensory axonal Guillain-Barré syndrome", "acute motor-sensory axonal neuropathy"], "xref": ["GARD:0019601", "MEDGEN:859705", "NCIT:C116927", "Orphanet:98917", "SCTID:716722005", "UMLS:C3900111"]}
{"category": ["biolink:Disease"], "description": "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).", "id": "MONDO:0020349", "name": "Acute motor axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AMAN", "acute pure motor GBS", "acute pure motor Guillain-Barre syndrome", "acute pure motor Guillain-Barré syndrome"], "xref": ["GARD:0019602", "MEDGEN:855842", "NCIT:C116929", "Orphanet:98918", "SCTID:715770009", "UMLS:C3890941", "icd11.foundation:745197078"]}
{"category": ["biolink:Disease"], "description": "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.", "id": "MONDO:0020351", "name": "Blake pouch cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019603", "MEDGEN:783279", "Orphanet:98922", "UMLS:C3662124"]}
{"category": ["biolink:Disease"], "description": "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).", "id": "MONDO:0020352", "name": "Multiple system atrophy, parkinsonian type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["MSA, parkinsonian type", "MSA-p"], "xref": ["GARD:0019604", "MEDGEN:1842393", "NANDO:1200036", "Orphanet:98933", "UMLS:C5554235", "icd11.foundation:296753000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020353", "name": "Von hippel anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_malformation_syndrome", "mondo:rare"], "xref": ["Orphanet:98941", "icd11.foundation:1620371681"]}
{"category": ["biolink:Disease"], "description": "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.", "id": "MONDO:0020354", "name": "Coloboma of choroid and retina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016875", "MEDGEN:1643994", "Orphanet:98942", "SCTID:39302008", "UMLS:C4708599", "icd11.foundation:20223105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020355", "name": "Coloboma of eye lens", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001433", "MEDGEN:451043", "Orphanet:98943", "UMLS:C0344516", "icd11.foundation:1368271881"]}
{"category": ["biolink:Disease"], "description": "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.", "id": "MONDO:0020356", "name": "Coloboma of iris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coloboma of iris", "coloboma of iris (disease)", "coloboma of the iris"], "xref": ["GARD:0001434", "HP:0000612", "ICD10CM:Q13.0", "MEDGEN:116097", "MedDRA:10052642", "NCIT:C98879", "Orphanet:98944", "SCTID:9446007", "UMLS:C0240063", "icd11.foundation:1552972259"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.", "id": "MONDO:0020357", "name": "Coloboma of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["coloboma of the eyelid"], "xref": ["GARD:0019605", "MEDGEN:141737", "NCIT:C98878", "Orphanet:98946", "SCTID:95202004", "UMLS:C0521573", "icd11.foundation:684436925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020359", "name": "Congenital symblepharon", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["DOID:0111720", "GARD:0019606", "MEDGEN:509041", "Orphanet:98948", "UMLS:C0152454", "icd11.foundation:1595154985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020360", "name": "Complete cryptophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111719", "GARD:0016876", "MEDGEN:1773866", "Orphanet:98949", "UMLS:C5437887", "icd11.foundation:162797488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020361", "name": "Partial cryptophthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["DOID:0111718", "GARD:0019607", "MEDGEN:1843099", "Orphanet:98950", "UMLS:C5681641", "icd11.foundation:407675981"]}
{"category": ["biolink:Disease"], "description": "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.", "id": "MONDO:0020362", "name": "Inverse marcus-gunn phenomenon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019608", "MEDGEN:1784220", "Orphanet:98951", "UMLS:C5548210", "icd11.foundation:348052110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020363", "name": "Honey-droplet corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019609", "MEDGEN:573075", "Orphanet:98958", "UMLS:C0339300", "icd11.foundation:896313309"]}
{"category": ["biolink:Disease"], "description": "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.", "id": "MONDO:0020364", "name": "Posterior polymorphous corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPCD", "Schlichting dystrophy", "corneal dystrophy, posterior polymorphous", "posterior polymorphous dystrophy"], "xref": ["DOID:0060457", "GARD:0016882", "MEDGEN:87382", "OMIMPS:122000", "Orphanet:98973", "UMLS:C0339284", "icd11.foundation:935421185"]}
{"category": ["biolink:Disease"], "description": "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.", "id": "MONDO:0020365", "name": "Congenital hereditary endothelial dystrophy type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CHED1", "CHEDI", "autosomal dominant CHED", "autosomal dominant congenital hereditary endothelial dystrophy", "congenital hereditary endothelial dystrophy type 1"], "xref": ["GARD:0019610", "MEDGEN:736888", "OMIM:121700", "Orphanet:98975", "SCTID:416633008", "UMLS:C1562945"]}
{"category": ["biolink:Disease"], "description": "A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.", "id": "MONDO:0020366", "name": "Congenital glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Buphthalmus", "buphthalmia", "buphthalmos", "hydrophthalmos"], "xref": ["DOID:11212", "GARD:0025157", "ICD9:743.2", "ICD9:743.20", "MEDGEN:42532", "MESH:D006871", "NCIT:C50648", "SCTID:204113001", "UMLS:C0020302"]}
{"category": ["biolink:Disease"], "description": "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.", "id": "MONDO:0020367", "name": "Juvenile open angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["JOAG", "childhood glaucoma (disease)", "glaucoma (disease) of childhood", "glaucoma of childhood", "juvenile glaucoma", "paediatric glaucoma (disease)", "pediatric glaucoma (disease)"], "xref": ["DOID:1068", "GARD:0016883", "ICD9:365.14", "MEDGEN:453382", "MedDRA:10064032", "Orphanet:98977", "SCTID:71111008", "UMLS:C2981140"]}
{"category": ["biolink:Disease"], "description": "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.", "id": "MONDO:0020368", "name": "Axenfeld anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016485", "ICD9:743.44", "MEDGEN:78611", "MedDRA:10058653", "Orphanet:98978", "SCTID:204152008", "UMLS:C0266548", "icd11.foundation:1703498511"]}
{"category": ["biolink:Disease"], "description": "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.", "id": "MONDO:0020369", "name": "Chandler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Chandler's Syndrome", "Chandler's syndrome", "endothelial corneal dystrophy"], "xref": ["DOID:11554", "GARD:0006033", "MEDGEN:107777", "MedDRA:10057487", "NORD:918", "Orphanet:98979", "UMLS:C0544008", "icd11.foundation:806443940"]}
{"category": ["biolink:Disease"], "description": "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.", "id": "MONDO:0020370", "name": "Cogan-reese syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["DOID:0060217", "GARD:0006125", "MEDGEN:218910", "MedDRA:10059200", "NCIT:C84644", "Orphanet:98980", "SCTID:404633004", "UMLS:C1168173", "icd11.foundation:1968906450"]}
{"category": ["biolink:Disease"], "description": "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.", "id": "MONDO:0020371", "name": "Essential iris atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019611", "ICD9:364.51", "MEDGEN:543177", "NORD:1109", "Orphanet:98981", "SCTID:25913001", "UMLS:C0271111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020372", "name": "Early-onset sutural cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["early-onset cataract with Y-shaped suture opacities"], "xref": ["GARD:0016885", "Orphanet:98985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020373", "name": "Early-onset anterior polar cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["early-onset anterior subcapsular cataract"], "xref": ["GARD:0001140", "MEDGEN:340806", "Orphanet:98988", "UMLS:C1855179"]}
{"category": ["biolink:Disease"], "description": "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.", "id": "MONDO:0020374", "name": "Cerulean cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["blue-dot cataract"], "xref": ["GARD:0009508", "ICD9:743.39", "MEDGEN:138007", "MESH:C537955", "Orphanet:98989", "SCTID:204138006", "UMLS:C0344523", "icd11.foundation:1188848969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020376", "name": "Early-onset nuclear cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016887", "MEDGEN:1842550", "MESH:C563333", "MedDRA:10007759", "MedDRA:10057735", "Orphanet:98991", "UMLS:C5681644"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020377", "name": "Early-onset partial cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0016888", "MEDGEN:1842758", "Orphanet:98992", "UMLS:C5681643"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020378", "name": "Early-onset posterior polar cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016889", "MEDGEN:163646", "Orphanet:98993", "UMLS:C0858617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020379", "name": "Early-onset zonular cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001898", "MEDGEN:1842642", "Orphanet:98995", "UMLS:C5681642"]}
{"category": ["biolink:Disease"], "description": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.", "id": "MONDO:0020380", "name": "Autosomal dominant cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ADCA", "Autosomal Dominant Hereditary Ataxia", "autosomal dominant spinocerebellar ataxia", "cerebellar ataxia, autosomal dominant"], "xref": ["DOID:1441", "GARD:0004346", "ICD9:334.3", "MEDGEN:1684639", "NORD:825", "OMIMPS:164400", "Orphanet:99", "SCTID:129609000", "UMLS:C4087347"]}
{"category": ["biolink:Disease"], "description": "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.", "id": "MONDO:0020381", "name": "Patterned macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["macular dystrophy, patterned"], "xref": ["DOID:0060863", "GARD:0025158", "OMIMPS:169150"]}
{"category": ["biolink:Disease"], "description": "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.", "id": "MONDO:0020382", "name": "Multifocal pattern dystrophy simulating fundus flavimaculatus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["multifocal pattern dystrophy simulating Stargardt disease"], "xref": ["GARD:0019612", "MEDGEN:1376850", "Orphanet:99003", "SCTID:723408004", "UMLS:C4509881", "icd11.foundation:1819044742"]}
{"category": ["biolink:Disease"], "description": "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.", "id": "MONDO:0020383", "name": "Fundus pulverulentus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019613", "MEDGEN:1669231", "Orphanet:99004", "UMLS:C4749286", "icd11.foundation:871251875"]}
{"category": ["biolink:Disease"], "description": "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.", "id": "MONDO:0020384", "name": "Niemann-pick disease type e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025159", "MEDGEN:82781", "Orphanet:99022", "SCTID:73399005", "UMLS:C0268248"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020385", "name": "Congenitally uncorrected transposition of the great arteries with coarctation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["TGA with coarctation", "congenitally uncorrected transposition of the great vessels with coarctation"], "xref": ["GARD:0019614", "MEDGEN:1842891", "NANDO:1200703", "Orphanet:99042", "UMLS:C5680321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020386", "name": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DORV with subaortic or doubly committed VSD with pulmonary stenosis", "DORV, Fallot type", "double outlet right ventricle, Fallot type"], "xref": ["GARD:0019615", "Orphanet:99043", "SCTID:253298003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020387", "name": "Double outlet right ventricle with subpulmonary ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DORV with subpulmonary VSD", "DORV-TGA", "Double outlet right ventricle with transposition of the great arteries", "Taussig-Bing syndrome"], "xref": ["GARD:0019616", "MEDGEN:365502", "Orphanet:99045", "SCTID:448794008", "UMLS:C1956412", "icd11.foundation:1963185163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020388", "name": "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["DORV with non-committed subpulmonary VSD"], "xref": ["GARD:0019617", "MEDGEN:365501", "Orphanet:99046", "UMLS:C1956410", "icd11.foundation:2032277111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020389", "name": "Pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["APV/PDA, non-Fallot type", "PVA/PDA, non-Fallot type", "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome"], "xref": ["GARD:0019618", "MEDGEN:1678560", "Orphanet:99048", "UMLS:C5191313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020390", "name": "Pulmonary artery coming from patent ductus arteriosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019619", "MEDGEN:756326", "Orphanet:99049", "UMLS:C3163916"]}
{"category": ["biolink:Disease"], "description": "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.", "id": "MONDO:0020391", "name": "Pulmonary artery coming from the aorta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["abnormal origin of right or left pulmonary artery from the aorta", "hemitruncus arteriosus"], "xref": ["GARD:0004586", "MEDGEN:824773", "NANDO:2200281", "Orphanet:99050", "UMLS:C3838927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020393", "name": "Discrete fibromuscular subaortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019620", "MEDGEN:1842794", "Orphanet:99052", "UMLS:C5681645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020394", "name": "Tunnel subaortic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019621", "MEDGEN:1842964", "Orphanet:99053", "UMLS:C5681647"]}
{"category": ["biolink:Disease"], "description": "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).", "id": "MONDO:0020395", "name": "Valvar pulmonary stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019622", "ICD9:746.02", "MedDRA:10037450", "Orphanet:99054"]}
{"category": ["biolink:Disease"], "description": "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.", "id": "MONDO:0020396", "name": "Anomaly of the tricuspid valve chordae", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019623", "MEDGEN:757566", "Orphanet:99055", "UMLS:C3165162"]}
{"category": ["biolink:Disease"], "description": "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.", "id": "MONDO:0020397", "name": "Parachute tricuspid valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019624", "MEDGEN:576478", "Orphanet:99056", "UMLS:C0344755"]}
{"category": ["biolink:Disease"], "description": "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.", "id": "MONDO:0020398", "name": "Congenital mitral stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital mitral stenosis", "congenital mitral stenosis (disease)", "congenital mitral valve stenosis", "hereditary mitral valve stenosis"], "xref": ["GARD:0001496", "HP:0011570", "ICD10CM:Q23.2", "ICD9:746.5", "MEDGEN:57857", "NANDO:1200963", "Orphanet:99057", "SCTID:82458004", "UMLS:C0158618", "icd11.foundation:2102952411"]}
{"category": ["biolink:Disease"], "description": "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.", "id": "MONDO:0020399", "name": "Congenital hypoplasia of the mitral valve annulus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019625", "ICD9:746.89", "MEDGEN:757607", "Orphanet:99058", "SCTID:449270002", "UMLS:C3165203"]}
{"category": ["biolink:Disease"], "description": "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.", "id": "MONDO:0020400", "name": "Congenital supravalvular mitral ring", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019626", "MEDGEN:539536", "NANDO:2200308", "Orphanet:99059", "UMLS:C0265851"]}
{"category": ["biolink:Disease"], "description": "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.", "id": "MONDO:0020401", "name": "Congenital unguarded mitral orifice", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019627", "MEDGEN:576490", "Orphanet:99060", "UMLS:C0344769", "icd11.foundation:1824064279"]}
{"category": ["biolink:Disease"], "description": "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.", "id": "MONDO:0020402", "name": "Congenital accessory mitral valve tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019628", "MEDGEN:576493", "Orphanet:99061", "UMLS:C0344774"]}
{"category": ["biolink:Disease"], "description": "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.", "id": "MONDO:0020403", "name": "Congenital mitral valve agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019629", "MEDGEN:672659", "Orphanet:99062", "UMLS:C0685721"]}
{"category": ["biolink:Disease"], "description": "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.", "id": "MONDO:0020404", "name": "Shone complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["shone syndrome", "shone's syndrome (greater than 3 sites)"], "xref": ["GARD:0019630", "ICD9:746.84", "MEDGEN:501135", "MedDRA:10066802", "NCIT:C99058", "Orphanet:99063", "SCTID:41371000119100", "UMLS:C1868705", "icd11.foundation:295410302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020405", "name": "Straddling and/or overriding mitral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019631", "MEDGEN:1842816", "Orphanet:99064", "UMLS:C5681625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020406", "name": "Complete atrioventricular canal-left heart obstruction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CAVC type A", "CAVC-left heart obstruction syndrome", "complete atrioventricular canal type A"], "xref": ["GARD:0025160", "Orphanet:99066"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020407", "name": "Complete atrioventricular canal-ventricle hypoplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CAVC type B", "CAVC-ventricle hypoplasia syndrome", "complete atrioventricular canal type B"], "xref": ["GARD:0016893", "MEDGEN:1842918", "Orphanet:99067", "UMLS:C5680290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020408", "name": "Complete atrioventricular canal-tetralogy of fallot syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CAVC type C", "CAVC-Fallot tetralogy syndrome", "complete atrioventricular canal type C"], "xref": ["GARD:0016894", "MEDGEN:768726", "Orphanet:99068", "UMLS:C3640086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020409", "name": "Univentricular heart with single atrio-ventricular valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025161", "Orphanet:99069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020410", "name": "Aorto-right ventricular tunnel", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019632", "MEDGEN:576720", "Orphanet:99070", "UMLS:C0345055", "icd11.foundation:1166626076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020411", "name": "Aorto-left ventricular tunnel", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019633", "MEDGEN:576719", "Orphanet:99071", "UMLS:C0345054", "icd11.foundation:1781288740"]}
{"category": ["biolink:Disease"], "description": "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.", "id": "MONDO:0020412", "name": "Congenital patent ductus arteriosus aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019634", "MEDGEN:1646456", "Orphanet:99072", "SCTID:763316006", "UMLS:C4706391"]}
{"category": ["biolink:Disease"], "description": "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.", "id": "MONDO:0020413", "name": "Encircling double aortic arch", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019635", "MEDGEN:1641325", "NANDO:2200290", "Orphanet:99075", "SCTID:764521002", "UMLS:C4706940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020414", "name": "Persistent fifth aortic arch", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019636", "MEDGEN:576728", "Orphanet:99076", "UMLS:C0345066", "icd11.foundation:82536098"]}
{"category": ["biolink:Disease"], "description": "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.", "id": "MONDO:0020415", "name": "Kommerell diverticulum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019637", "MEDGEN:488820", "Orphanet:99077", "SCTID:74561007", "UMLS:C0265885"]}
{"category": ["biolink:Disease"], "description": "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).", "id": "MONDO:0020416", "name": "Neuhauser anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019638", "MEDGEN:1633982", "Orphanet:99078", "SCTID:766751007", "UMLS:C4707820"]}
{"category": ["biolink:Disease"], "description": "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.", "id": "MONDO:0020417", "name": "Right aortic arch", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["right aortic arch", "right aortic arch (disease)"], "xref": ["GARD:0019640", "HP:0012020", "ICD10CM:Q25.47", "MEDGEN:48474", "MedDRA:10067407", "NCIT:C103917", "Orphanet:99081", "SCTID:111321007", "UMLS:C0035615", "icd11.foundation:769265824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020418", "name": "Dysphagia lusoria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019641", "ICD9:787.29", "MEDGEN:540370", "Orphanet:99082", "SCTID:231719009", "UMLS:C0267073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020419", "name": "Pulmonary artery hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["pulmonary artery hypoplasia", "pulmonary artery hypoplasia (disease)"], "xref": ["GARD:0019642", "HP:0004971", "MEDGEN:75585", "Orphanet:99083", "SCTID:54682008", "UMLS:C0265910"]}
{"category": ["biolink:Disease"], "description": "Narrowing of the lumen of the right or left pulmonary artery branch.", "id": "MONDO:0020420", "name": "Pulmonary branch stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["branch pulmonary artery stenosis", "pulmonary artery stenosis, branch (not PPS)"], "xref": ["GARD:0004589", "MEDGEN:758898", "NCIT:C99144", "Orphanet:99084", "UMLS:C3531782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020421", "name": "Coronary artery intramyocardial course", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0025162", "MEDGEN:182684", "Orphanet:99085", "UMLS:C0948355"]}
{"category": ["biolink:Disease"], "description": "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.", "id": "MONDO:0020422", "name": "Aortopulmonary coronary arterial course", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0025163", "MEDGEN:1668023", "Orphanet:99086", "UMLS:C4757971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020423", "name": "Stenosis or atrophy of the coronary ostium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["coronary ostial stenosis or atresia"], "xref": ["GARD:0019643", "MEDGEN:1842382", "Orphanet:99087", "UMLS:C5575847"]}
{"category": ["biolink:Disease"], "description": "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.", "id": "MONDO:0020424", "name": "Intramural coronary arterial course", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "xref": ["GARD:0025164", "MEDGEN:576769", "Orphanet:99088", "UMLS:C0345123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020425", "name": "Abnormal number of coronary ostia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019644", "MEDGEN:1676211", "Orphanet:99089", "UMLS:C5191081"]}
{"category": ["biolink:Disease"], "description": "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.", "id": "MONDO:0020426", "name": "Malposition of the coronary ostium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019645", "MEDGEN:759190", "Orphanet:99090", "UMLS:C3532077"]}
{"category": ["biolink:Disease"], "description": "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.", "id": "MONDO:0020427", "name": "Laubry-pezzi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VSD with aortic insufficiency", "ventricular septal defect with aortic insufficiency"], "xref": ["GARD:0019646", "MEDGEN:1643612", "Orphanet:99094", "SCTID:764955006", "UMLS:C4707235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020428", "name": "Congenital gerbode defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Gerbode defect", "left ventricular-to-right atrial communication"], "xref": ["GARD:0019647", "MEDGEN:576645", "NANDO:2100090", "NANDO:2200274", "Orphanet:99095", "SCTID:204312002", "UMLS:C0344947", "icd11.foundation:1370033158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020429", "name": "Cor triatriatum dexter", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cor triatriatum dexter", "cor triatriatum dexter (disease)", "cor triatriatum dextrum", "divided right atrium"], "xref": ["GARD:0012483", "HP:0011566", "ICD9:746.89", "MEDGEN:488867", "Orphanet:99098", "SCTID:274947007", "UMLS:C0344697", "icd11.foundation:294192583"]}
{"category": ["biolink:Disease"], "description": "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.", "id": "MONDO:0020430", "name": "Cor triatriatum sinister", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cor triatriatum sinistrum", "divided left atrium"], "xref": ["GARD:0012484", "ICD9:746.89", "MEDGEN:576445", "Orphanet:99099", "SCTID:253353007", "UMLS:C0344712", "icd11.foundation:90967508"]}
{"category": ["biolink:Disease"], "description": "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.", "id": "MONDO:0020431", "name": "Juxtaposition of the atrial appendages", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["juxtaposition of the atrial auricles"], "xref": ["GARD:0019648", "MEDGEN:712843", "Orphanet:99100", "UMLS:C1290478"]}
{"category": ["biolink:Disease"], "description": "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.", "id": "MONDO:0020432", "name": "Ectasia of the right atrial appendage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dilatation of the right atrial appendage", "dilatation of the right atrial auricle", "ectasia of the right atrial auricle"], "xref": ["GARD:0019649", "MEDGEN:1661316", "Orphanet:99101", "UMLS:C4749283"]}
{"category": ["biolink:Disease"], "description": "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.", "id": "MONDO:0020433", "name": "Ectasia of the left appendage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dilatation of the left appendage", "dilatation of the left atrial appendage", "dilatation of the left auricle", "ectasia of the left auricle"], "xref": ["GARD:0019650", "MEDGEN:1656788", "Orphanet:99102", "UMLS:C4749282"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020434", "name": "Atrial septal defect, ostium secundum type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ASD, ostium secundum type"], "xref": ["GARD:0005865", "MEDGEN:91034", "MedDRA:10031302", "MedDRA:10031303", "NANDO:2200266", "Orphanet:99103", "UMLS:C0344724", "icd11.foundation:1875768490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020435", "name": "Atrial septal defect, coronary sinus type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ASD, coronary sinus type", "atrial septal defect coronary sinus", "unroofed coronary sinus"], "xref": ["GARD:0010697", "ICD9:746.89", "MEDGEN:488986", "Orphanet:99104", "SCTID:40272001", "UMLS:C2063331", "icd11.foundation:664625334", "icd11.foundation:800577917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020436", "name": "Atrial septal defect, sinus venosus type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ASD, sinus venosus type"], "xref": ["GARD:0010696", "MEDGEN:138011", "MESH:C548009", "NANDO:2200267", "Orphanet:99105", "SCTID:95268002", "UMLS:C0344730", "icd11.foundation:1930019148"]}
{"category": ["biolink:Disease"], "description": "Atrioventricular septal defect with communication at the atrial level only.", "id": "MONDO:0020437", "name": "Atrial septal defect, ostium primum type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ASD ostium primum type", "ASD, ostium primum type", "PAVC", "PAVSD", "atrial septal defect ostium primum", "atrioventricular defect with atrial shunting only", "incomplete atrioventricular canal defect with isolated atrial component", "incomplete atrioventricular septal defect with isolated atrial component", "ostium primum ASD", "partial atrioventricular canal defect with isolated atrial component", "partial atrioventricular septal defect", "partial atrioventricular septal defect: ostium primum type", "primum atrial septal defect"], "xref": ["GARD:0010695", "MEDGEN:1825952", "MESH:C548006", "Orphanet:99106", "SCTID:17718000", "UMLS:C5680294", "icd11.foundation:1159570489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020438", "name": "Atrial septal aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019651", "MEDGEN:1384602", "Orphanet:99107", "SCTID:95440004", "UMLS:C4476553", "icd11.foundation:100700036"]}
{"category": ["biolink:Disease"], "description": "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.", "id": "MONDO:0020439", "name": "Patent foramen ovale", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_morphological_anomaly", "mondo:rare"], "synonym": ["ostium secundum type atrial septal defect", "patent foramen ovale", "patent foramen ovale (disease)"], "xref": ["DOID:13620", "HP:0001655", "MEDGEN:8891", "MESH:D054092", "MedDRA:10016982", "NANDO:2200266", "NCIT:C34619", "Orphanet:99108", "UMLS:C0016522", "icd11.foundation:1618980674"]}
{"category": ["biolink:Disease"], "description": "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.", "id": "MONDO:0020440", "name": "Persistent left superior vena cava connecting to the left-sided atrium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["left superior caval vein persisting to the left-sided atrium", "persistent left SVC connecting to the left-sided atrium", "persistent left superior caval vein connecting to the left-sided atrium"], "xref": ["GARD:0019652", "MEDGEN:1830102", "Orphanet:99109", "UMLS:C5680293"]}
{"category": ["biolink:Disease"], "description": "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.", "id": "MONDO:0020441", "name": "Right superior vena cava connecting to left-sided atrium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["right SVC connecting to left-sided atrium", "right superior caval vein connecting to left-sided atrium"], "xref": ["GARD:0019653", "MEDGEN:576401", "Orphanet:99110", "UMLS:C0344658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020442", "name": "Left superior vena cava persisting to left-sided atrium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["left SVC persisting to left-sided atrium", "left superior caval vein persisting to left-sided atrium"], "xref": ["GARD:0019654", "ICD9:747.49", "MEDGEN:1843013", "Orphanet:99111", "SCTID:445436005", "UMLS:C5680292", "icd11.foundation:320170224"]}
{"category": ["biolink:Disease"], "description": "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.", "id": "MONDO:0020443", "name": "Absence of innominate vein", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["absence of brachiocephalic vein"], "xref": ["GARD:0019655", "MEDGEN:1640707", "Orphanet:99112", "UMLS:C4707656"]}
{"category": ["biolink:Disease"], "description": "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.", "id": "MONDO:0020444", "name": "Subaortic course of innominate vein", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["subaortic course of brachiocephalic vein"], "xref": ["GARD:0019656", "MEDGEN:1637333", "Orphanet:99113", "SCTID:766756002", "UMLS:C4707821"]}
{"category": ["biolink:Disease"], "description": "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.", "id": "MONDO:0020445", "name": "Agenesis of the superior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["absence of the SVC", "absence of the superior caval vein", "absence of the superior vena cava", "agenesis of the SVC", "agenesis of the superior caval vein"], "xref": ["GARD:0019657", "ICD9:747.49", "MEDGEN:539590", "Orphanet:99114", "SCTID:204464007", "UMLS:C0265929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020446", "name": "Coronary sinus stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019658", "MEDGEN:576420", "Orphanet:99117", "UMLS:C0344684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020447", "name": "Coronary sinus atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019659", "MEDGEN:576419", "Orphanet:99118", "UMLS:C0344683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020448", "name": "Right inferior vena cava connecting to left-sided atrium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["right IVC connecting to left-sided atrium", "right inferior caval vein connecting to left-sided atrium"], "xref": ["GARD:0019660", "MEDGEN:756739", "Orphanet:99119", "UMLS:C3164330"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020449", "name": "Persistent eustachian valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019661", "MEDGEN:1678657", "Orphanet:99120", "UMLS:C5190784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020450", "name": "Azygos continuation of the inferior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["azygos continuation of the IVC", "azygos continuation of the inferior caval vein"], "xref": ["GARD:0019662", "MEDGEN:347231", "Orphanet:99121", "UMLS:C1859772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020451", "name": "Congenital stenosis of the inferior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital stenosis of the IVC", "congenital stenosis of the inferior caval vein"], "xref": ["GARD:0019663", "ICD9:747.49", "MEDGEN:539594", "Orphanet:99122", "SCTID:62335009", "UMLS:C0265934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020452", "name": "Inferior vena cava interruption", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IVC interruption", "Inferior caval vein interruption"], "xref": ["GARD:0019664", "ICD9:747.49", "MEDGEN:1806633", "Orphanet:99123", "SCTID:93031005", "UMLS:C5680291"]}
{"category": ["biolink:Disease"], "description": "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.", "id": "MONDO:0020453", "name": "Congenital partial pulmonary venous return anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Partial anomalous pulmonary Venous connection", "Partial anomalous pulmonary Venous return"], "xref": ["GARD:0019665", "ICD10CM:Q26.3", "MEDGEN:450995", "NANDO:2200272", "NCIT:C99004", "Orphanet:99124", "SCTID:68237008", "UMLS:C0158634", "icd11.foundation:1041585584"]}
{"category": ["biolink:Disease"], "description": "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.", "id": "MONDO:0020454", "name": "Congenital complete agenesis of pericardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019666", "MEDGEN:576786", "Orphanet:99129", "UMLS:C0345140", "icd11.foundation:1462683633"]}
{"category": ["biolink:Disease"], "description": "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.", "id": "MONDO:0020455", "name": "Congenital partial agenesis of pericardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019667", "MEDGEN:576785", "Orphanet:99130", "UMLS:C0345139", "icd11.foundation:1742434564"]}
{"category": ["biolink:Disease"], "description": "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.", "id": "MONDO:0020456", "name": "Pleuro-pericardial cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019668", "MEDGEN:576787", "Orphanet:99131", "UMLS:C0345141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020457", "name": "6-phosphogluconate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016897", "MEDGEN:1783871", "OMIM:619199", "Orphanet:99135", "UMLS:C5543091"]}
{"category": ["biolink:Disease"], "description": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.", "id": "MONDO:0020458", "name": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adenosine deaminase, elevated, hemolytic anaemia due to", "adenosine deaminase, elevated, hemolytic anemia due to", "anemia, congenital, nonspherocytic hemolytic, 9"], "xref": ["DOID:0051008", "GARD:0019669", "MEDGEN:400240", "MESH:C566314", "OMIM:102730", "OMIM:301083", "Orphanet:99138", "UMLS:C1863235", "icd11.foundation:1200845933"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020459", "name": "Unstable hemoglobin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019670", "ICD9:282.7", "MEDGEN:82893", "NANDO:2200625", "Orphanet:99139", "SCTID:18273004", "UMLS:C0272006"]}
{"category": ["biolink:Disease"], "description": "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.", "id": "MONDO:0020460", "name": "Acquired von willebrand syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["acquired von Willebrand disease", "acquired von Willebrand disease (hereditary or acquired)", "acquired von willebrand disease"], "xref": ["DOID:0111146", "GARD:0005573", "MEDGEN:543999", "MedDRA:10069495", "NANDO:1200899", "Orphanet:99147", "PMID:28028990", "SCTID:234451005", "UMLS:C0272362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020461", "name": "Epiblepharon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019671", "ICD9:743.63", "MEDGEN:488856", "Orphanet:99169", "SCTID:253212001", "UMLS:C0344503", "icd11.foundation:1757021264"]}
{"category": ["biolink:Disease"], "description": "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.", "id": "MONDO:0020462", "name": "Tarsal kink syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019672", "MEDGEN:724510", "Orphanet:99170", "UMLS:C1303000"]}
{"category": ["biolink:Disease"], "description": "A congenital ectropion that is not part of a larger syndrome.", "id": "MONDO:0020463", "name": "Isolated congenital ectropion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nonsyndromic congenital ectropion"], "xref": ["GARD:0019673", "MEDGEN:1842688", "Orphanet:99171", "UMLS:C5681630"]}
{"category": ["biolink:Disease"], "description": "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.", "id": "MONDO:0020464", "name": "Euryblepharon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019674", "MEDGEN:724511", "Orphanet:99172", "SCTID:400954002", "UMLS:C1303001", "icd11.foundation:2086603843"]}
{"category": ["biolink:Disease"], "description": "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.", "id": "MONDO:0020465", "name": "Congenital eyelid retraction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019675", "MEDGEN:894858", "Orphanet:99176", "SCTID:715769008", "UMLS:C4274470", "icd11.foundation:11235593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020466", "name": "Monosomy x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["monosomy type X"], "xref": ["GARD:0019676", "MEDGEN:116607", "NCIT:C36630", "Orphanet:99226", "SCTID:710008008", "UMLS:C0242526", "icd11.foundation:95979116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020467", "name": "Mosaic monosomy x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic Turner syndrome", "Mosaic monosomy type X", "XX/XO"], "xref": ["GARD:0019677", "MEDGEN:873772", "Orphanet:99228", "SCTID:710010005", "UMLS:C4040907"]}
{"category": ["biolink:Disease"], "description": "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.", "id": "MONDO:0020468", "name": "Paternal uniparental disomy of chromosome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UPD(13)pat", "paternal uniparental disomy of chromosome type 13"], "xref": ["GARD:0019678", "MEDGEN:1653904", "Orphanet:99324", "UMLS:C4722326", "icd11.foundation:2090405609"]}
{"category": ["biolink:Disease"], "description": "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.", "id": "MONDO:0020469", "name": "48,xyyy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0011985", "MEDGEN:1371767", "Orphanet:99329", "SCTID:733625003", "UMLS:C4518082"]}
{"category": ["biolink:Disease"], "description": "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.", "id": "MONDO:0020470", "name": "49,xyyyy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019679", "MEDGEN:1384259", "Orphanet:99330", "SCTID:734028007", "UMLS:C4518342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020472", "name": "Turner syndrome due to structural x chromosome anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019681", "MEDGEN:1842425", "Orphanet:99413", "UMLS:C5681631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020473", "name": "Dappled diaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025165", "ICD9:756.59", "MEDGEN:468529", "Orphanet:99645", "SCTID:389262009", "UMLS:C1300227", "icd11.foundation:2067032637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020475", "name": "Dermotrichic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019683", "MEDGEN:1672480", "Orphanet:99688", "UMLS:C0795919"]}
{"category": ["biolink:Disease"], "description": "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.", "id": "MONDO:0020476", "name": "Mesial temporal lobe epilepsy with hippocampal sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MTLE-HS"], "xref": ["GARD:0019684", "MEDGEN:1659013", "NANDO:1200588", "Orphanet:99701", "UMLS:C4749367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020477", "name": "Progeria-associated arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["Orphanet:99706"]}
{"category": ["biolink:Disease"], "description": "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.", "id": "MONDO:0020478", "name": "Leber plus disease", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LHON plus disease"], "xref": ["DOID:0111754", "GARD:0008476", "MEDGEN:930394", "Orphanet:99718", "SCTID:719430008", "UMLS:C4304725"]}
{"category": ["biolink:Disease"], "description": "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.", "id": "MONDO:0020479", "name": "Pituitary gigantism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hypophyseal gigantism", "infantile and juvenile forms of acromegaly"], "xref": ["GARD:0006506", "MEDGEN:6602", "MESH:D005877", "MedDRA:10018265", "NANDO:2100111", "NANDO:2200314", "NCIT:C93046", "Orphanet:99725", "SCTID:86073008", "UMLS:C0017547"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020480", "name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MOCOD", "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase"], "xref": ["DOID:0111165", "GARD:0003705", "MEDGEN:75652", "OMIMPS:252150", "Orphanet:99732", "UMLS:C0268119", "icd11.foundation:819219337"]}
{"category": ["biolink:Disease"], "description": "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.", "id": "MONDO:0020481", "name": "Myotonia fluctuans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fluctuating myotonia", "MF", "exercise-induced delayed-onset myotonia"], "xref": ["GARD:0016904", "MEDGEN:156269", "NCIT:C122789", "Orphanet:99734", "SCTID:715788001", "UMLS:C0752355", "icd11.foundation:1294270721"]}
{"category": ["biolink:Disease"], "description": "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).", "id": "MONDO:0020482", "name": "Myotonia permanens", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016905", "MEDGEN:1845910", "Orphanet:99735", "SCTID:715789009", "UMLS:C5848361", "icd11.foundation:2133644550"]}
{"category": ["biolink:Disease"], "description": "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).", "id": "MONDO:0020483", "name": "Acetazolamide-responsive myotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACZ-responsive congenital myotonia", "ACZ-responsive myotonia", "Acetazolamide-responsive congenital myotonia", "myotonia-painful contractions syndrome", "painful congenital myotonia", "painful myotonia"], "xref": ["GARD:0016906", "MEDGEN:902539", "Orphanet:99736", "SCTID:715793003", "UMLS:C4275008", "icd11.foundation:1452993937"]}
{"category": ["biolink:Disease"], "description": "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.", "id": "MONDO:0020485", "name": "King-denborough syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Koussef-Nichols syndrome"], "xref": ["GARD:0008433", "MEDGEN:327082", "MESH:C536883", "MESH:C537504", "OMIM:619542", "Orphanet:99741", "SCTID:764957003", "UMLS:C1840365"]}
{"category": ["biolink:Disease"], "description": "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.", "id": "MONDO:0020487", "name": "Pontiac fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0050150", "GARD:0013588", "ICD9:041.89", "MEDGEN:575661", "MedDRA:10054161", "NCIT:C128335", "Orphanet:99748", "SCTID:240447002", "UMLS:C0343528", "icd11.foundation:1670562980"]}
{"category": ["biolink:Disease"], "description": "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).", "id": "MONDO:0020488", "name": "Atypical progressive supranuclear palsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["atypical PSP syndrome"], "xref": ["GARD:0004507", "MEDGEN:1779597", "Orphanet:99750", "UMLS:C5548371"]}
{"category": ["biolink:Disease"], "description": "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0020490", "name": "Mosaic trisomy 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Mosaic trisomy type 9"], "xref": ["GARD:0000043", "MEDGEN:419661", "MESH:C535454", "NORD:966", "Orphanet:99776", "SCTID:764989007", "UMLS:C2930908"]}
{"category": ["biolink:Disease"], "description": "A developmental brain abnormality characterized by atypical migration of neurons during cortical development.", "id": "MONDO:0020491", "name": "Subcortical band heterotopia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["double cortex syndrome", "subcortical laminar heterotopia"], "xref": ["DOID:0111169", "GARD:0001904", "MEDGEN:336288", "NANDO:1201070", "NCIT:C116933", "Orphanet:99796", "UMLS:C1848201", "icd11.foundation:525786944"]}
{"category": ["biolink:Disease"], "description": "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.", "id": "MONDO:0020492", "name": "Hemimegalencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["unilateral megalencephaly"], "xref": ["GARD:0002637", "ICD9:742.4", "MEDGEN:140910", "MESH:D065705", "NANDO:1200563", "NCIT:C177779", "NORD:1220", "Orphanet:99802", "SCTID:253170008", "UMLS:C0431391", "icd11.foundation:961229160"]}
{"category": ["biolink:Disease"], "description": "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.", "id": "MONDO:0020493", "name": "Haddad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Haddad syndrome", "congenital central alveolar hypoventilation-Hirschsprung disease syndrome", "ondine-Hirschsprung disease", "ondine-Hirschsprung syndrome"], "xref": ["GARD:0016909", "MEDGEN:347052", "Orphanet:99803", "SCTID:719972004", "UMLS:C1859049", "icd11.foundation:1685926536"]}
{"category": ["biolink:Disease"], "description": "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.", "id": "MONDO:0020494", "name": "Oculootodental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OOD"], "xref": ["GARD:0016910", "MEDGEN:413814", "Orphanet:99806", "UMLS:C2750325"]}
{"category": ["biolink:Disease"], "description": "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.", "id": "MONDO:0020495", "name": "Peho-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PEHO syndrome-like", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome"], "xref": ["GARD:0016911", "MEDGEN:337956", "OMIM:617507", "Orphanet:99807", "UMLS:C1850056"]}
{"category": ["biolink:Disease"], "description": "An instance of porencephaly that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0020496", "name": "Familial porencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["hereditary porencephaly"], "xref": ["DOID:0112313", "GARD:0002258", "MEDGEN:401353", "OMIMPS:175780", "Orphanet:99810", "UMLS:C1867983", "icd11.foundation:1833583032"]}
{"category": ["biolink:Disease"], "description": "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.", "id": "MONDO:0020497", "name": "Turcot syndrome with polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0016912", "NCIT:C40464", "Orphanet:99818", "icd11.foundation:813602368"]}
{"category": ["biolink:Disease"], "description": "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.", "id": "MONDO:0020499", "name": "Nipah virus disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Nipah encephalitis", "Nipah fever", "Nipah virus infectious disease"], "xref": ["DOID:0050192", "GARD:0019689", "MEDGEN:728863", "Orphanet:99825", "UMLS:C1320202"]}
{"category": ["biolink:Disease"], "description": "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.", "id": "MONDO:0020500", "name": "Marburg hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Green monkey disease", "MHF", "Marburg disease", "Marburg virus disease"], "xref": ["DOID:4327", "EFO:0007358", "GARD:0009444", "ICD10CM:A98.3", "ICD9:078.89", "MEDGEN:9888", "MESH:D008379", "MedDRA:10026822", "NCIT:C84883", "Orphanet:99826", "SCTID:77503002", "UMLS:C0024788", "icd11.foundation:696598707"]}
{"category": ["biolink:Disease"], "description": "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.", "id": "MONDO:0020501", "name": "Crimean-congo hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCHF", "Congo fever", "Congo hemorrhagic fever", "Congo-Crimean hemorrhagic fever", "Crimean hemorrhagic fever", "Crimean hemorrhagic fever [CHF Congo virus]", "Crimean-Congo haemorrhagic fever"], "xref": ["DOID:12287", "GARD:0019690", "ICD10CM:A98.0", "ICD9:065.0", "MEDGEN:6800", "MESH:D006479", "NCIT:C34682", "Orphanet:99827", "SCTID:402919000", "UMLS:C0019099", "icd11.foundation:1562906700"]}
{"category": ["biolink:Disease"], "description": "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.", "id": "MONDO:0020502", "name": "Yellow fever", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["YF", "Yellow Jack", "Yellow fever Virus infection", "Yellow fever virus caused disease or disorder", "Yellow fever virus disease or disorder", "Yellow fever virus infectious disease", "bronze John", "sylvatic yellow fever"], "xref": ["DOID:9682", "GARD:0007914", "ICD10CM:A95", "ICD10WHO:A95", "ICD9:060", "ICD9:060.9", "MEDGEN:53112", "MESH:D015004", "MedDRA:10048240", "NCIT:C35547", "NORD:1873", "Orphanet:99829", "UMLS:C0043395", "icd11.foundation:383352795"]}
{"category": ["biolink:Disease"], "description": "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.", "id": "MONDO:0020504", "name": "Hereditary recurrent myoglobinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["genetic recurrent myoglobinuria"], "xref": ["GARD:0016916", "MEDGEN:901659", "Orphanet:99845", "SCTID:716721003", "UMLS:C4274324"]}
{"category": ["biolink:Disease"], "description": "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.", "id": "MONDO:0020505", "name": "Ravine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome", "progressive encephalopathy with severe infantile anorexia"], "xref": ["GARD:0003231", "MEDGEN:907744", "Orphanet:99852", "SCTID:715794009", "UMLS:C4275006", "icd11.foundation:451093599"]}
{"category": ["biolink:Disease"], "description": "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.", "id": "MONDO:0020507", "name": "Leukoencephalopathy with vanishing white matter 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CACH", "childhood ataxia with central nervous system hypomyelinization", "vanishing white matter leukodystrophy"], "xref": ["DOID:0070374", "GARD:0016919", "MEDGEN:1830482", "OMIM:603896", "Orphanet:99854", "UMLS:C5779972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020508", "name": "Primary syringomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital syringomyelia"], "xref": ["GARD:0019691", "MEDGEN:721465", "Orphanet:99856", "SCTID:371076006", "UMLS:C1299627", "icd11.foundation:257905685"]}
{"category": ["biolink:Disease"], "description": "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.", "id": "MONDO:0020509", "name": "Secondary syringomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019692", "MEDGEN:1649806", "Orphanet:99857", "UMLS:C4749399"]}
{"category": ["biolink:Disease"], "description": "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.", "id": "MONDO:0020510", "name": "Idiopathic syringomyelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019693", "MEDGEN:1378771", "Orphanet:99858", "SCTID:725001004", "UMLS:C4511700", "icd11.foundation:1218010255"]}
{"category": ["biolink:Disease"], "description": "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)", "id": "MONDO:0020511", "name": "Precursor b-cell acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["B cell precursor type acute leukaemia", "B cell precursor type acute leukemia", "B-cell precursor type acute leukaemia", "B-cell precursor type acute leukemia", "B-precursor ALL", "precursor B-cell acute lymphoblastic leukemia/lymphoma", "precursor B-cell acute lymphocytic leukaemia", "precursor B-cell acute lymphocytic leukemia", "precursor B-cell acute lymphocytic leukemia/lymphoma", "precursor B-lymphoblastic leukaemia", "precursor B-lymphoblastic leukaemia (B-precursor ALL)", "precursor B-lymphoblastic leukemia", "precursor B-lymphoblastic leukemia (B-precursor ALL)"], "xref": ["DOID:0080638", "GARD:0016920", "ICDO:9836/3", "MEDGEN:83896", "NANDO:2200001", "NANDO:2200022", "NCIT:C8644", "Orphanet:99860", "UMLS:C0349636", "icd11.foundation:1099674056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020512", "name": "Precursor t-cell acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["precursor T-cell acute lymphoblastic leukemia/lymphoma", "precursor T-cell acute lymphocytic leukaemia", "precursor T-cell acute lymphocytic leukemia", "precursor T-cell acute lymphocytic leukemia/lymphoma"], "xref": ["EFO:1001830", "GARD:0019694", "Orphanet:99861", "icd11.foundation:803161771"]}
{"category": ["biolink:Disease"], "description": "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.", "id": "MONDO:0020513", "name": "Spermatocytic seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spermatocytic seminoma", "testicular spermatocytic seminoma"], "xref": ["DOID:5834", "DOID:7891", "GARD:0016921", "ICDO:9063/3", "MEDGEN:83159", "NCIT:C39921", "Orphanet:99865", "UMLS:C0334517"]}
{"category": ["biolink:Disease"], "description": "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.", "id": "MONDO:0020516", "name": "Thymic neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neuroendocrine carcinoma of thymus", "thymic neuroendocrine carcinoma", "thymus neuroendocrine carcinoma"], "xref": ["GARD:0019696", "MEDGEN:900590", "NCIT:C171031", "Orphanet:99869", "SCTID:716653001", "UMLS:C2210965", "icd11.foundation:381956131"]}
{"category": ["biolink:Disease"], "description": "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.", "id": "MONDO:0020517", "name": "Eosinophilic granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["eosinophilic granuloma", "eosinophilic xanthomatous granuloma"], "xref": ["GARD:0025166", "ICD9:277.89", "ICDO:9752/1", "MEDGEN:4979", "MESH:D004803", "MedDRA:10014956", "NCIT:C3016", "Orphanet:99871", "SCTID:129000002", "UMLS:C0014461", "icd11.foundation:1377407737"]}
{"category": ["biolink:Disease"], "description": "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).", "id": "MONDO:0020518", "name": "Hashimoto-pritzker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital Langerhans cell histiocytosis"], "xref": ["GARD:0002604", "ICD9:277.89", "MEDGEN:775638", "MESH:C535843", "Orphanet:99872", "SCTID:404160007", "UMLS:C3661439", "icd11.foundation:1011705244"]}
{"category": ["biolink:Disease"], "description": "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.", "id": "MONDO:0020519", "name": "Hand-schuller-christian disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["chronic multifocal Langerhans cell histiocytosis", "classic multifocal Langerhans cell histiocytosis", "hand-SChüller-Christian disease", "hand-Schuller-Christian disease", "multifocal Unisystem Langerhans cell histiocytosis", "multifocal eosinophilic granuloma"], "xref": ["GARD:0006567", "ICD9:277.89", "ICDO:9753/1", "MEDGEN:1804593", "NCIT:C6920", "Orphanet:99873", "SCTID:39795003", "UMLS:C5574737"]}
{"category": ["biolink:Disease"], "description": "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.", "id": "MONDO:0020520", "name": "Adult pulmonary langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025167", "ICD10CM:J84.82", "MEDGEN:853967", "Orphanet:99874", "SCTID:328611000119105", "UMLS:C3161104", "icd11.foundation:792398738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020521", "name": "Ehlers-danlos syndrome type 7a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["EDS VIIA"], "xref": ["GARD:0025168", "MEDGEN:854083", "OMIM:130060", "Orphanet:99875", "UMLS:C3508773", "icd11.foundation:165998215"]}
{"category": ["biolink:Disease"], "description": "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0020523", "name": "Familial parathyroid adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hereditary parathyroid gland adenoma"], "xref": ["MEDGEN:374460", "Orphanet:99877", "UMLS:C1840403", "icd11.foundation:55934726"]}
{"category": ["biolink:Disease"], "description": "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.", "id": "MONDO:0020525", "name": "Transient neonatal diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TNDM", "transient neonatal diabetes mellitus", "transient neonatal diabetes mellitus (disease)"], "xref": ["DOID:0060334", "GARD:0025170", "HP:0008255", "MEDGEN:449530", "NCIT:C114899", "SCTID:237603002", "UMLS:C0342273", "icd11.foundation:1596856936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020526", "name": "Acute megakaryoblastic leukemia in down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DS-AMKL"], "xref": ["GARD:0019697", "MEDGEN:1863778", "Orphanet:99887", "UMLS:C5925108"]}
{"category": ["biolink:Disease"], "description": "A form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.", "id": "MONDO:0020527", "name": "Ectopic cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cushing syndrome due to ectopic ACTH secretion", "adrenocorticotropic hormone secretion syndrome", "ectopic ACTH secreting tumor", "ectopic ACTH secreting tumour", "ectopic Cushing syndrome", "occult ectopic ACTH secretion", "paraneoplastic Cushing syndrome"], "xref": ["DOID:0060890", "GARD:0019698", "Orphanet:99889", "icd11.foundation:1646144829"]}
{"category": ["biolink:Disease"], "description": "A group of endogenous Cushing syndrome caused by abnormal production of ACTH due to pituitary adenoma or an extrapituitary tumor.", "id": "MONDO:0020528", "name": "Acth-dependent cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["ACTH-dependent CS", "adrenocorticotropic hormone-dependent Cushing syndrome", "corticotropin-dependent Cushing syndrome", "pituitary-dependent Cushing's disease"], "xref": ["DOID:3946", "EFO:1001110", "GARD:0019699", "ICD10CM:E24.0", "MEDGEN:575036", "MESH:D047748", "MedDRA:10035109", "Orphanet:99892", "SCTID:190502001", "SCTID:237734007", "UMLS:C0342442", "icd11.foundation:212778081"]}
{"category": ["biolink:Disease"], "description": "A group of endogenous Cushing syndrome  that may result from excess secretion of cortisol by either a unilateral and benign, or malignant adrenocortical tumor, or nodular adrenocortical disease.", "id": "MONDO:0020529", "name": "Acth-independent cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["adrenal Cushing syndrome", "adrenocorticotropic hormone-independent Cushing syndrome", "corticotropin-independent Cushing syndrome"], "xref": ["GARD:0019700", "MEDGEN:575037", "Orphanet:647758", "Orphanet:99893", "UMLS:C0342443", "icd11.foundation:652536990"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.", "id": "MONDO:0020531", "name": "Long chain acyl-coa dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["LCAD", "acyl-CoA dehydrogenase, long-chain deficiency", "inborn error of long-chain-acyl-CoA dehydrogenase activity", "inborn long-chain-acyl-CoA dehydrogenase activity disorder", "long chain acyl-CoA dehydrogenase deficiency", "long-chain acyl-CoA dehydrogenase deficiency", "long-chain acyl-Coenzyme A dehydrogenase deficiency", "rare inborn error of long-chain-acyl-CoA dehydrogenase activity"], "xref": ["GARD:0009700", "MEDGEN:65087", "MESH:C535690", "NCIT:C84537", "Orphanet:99900", "SCTID:237996001", "UMLS:C0220711", "icd11.foundation:692829041"]}
{"category": ["biolink:Disease"], "description": "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.", "id": "MONDO:0020532", "name": "Spirillary rat-bite fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Spirillary fever", "sodoku", "sodoku disease"], "xref": ["DOID:12096", "GARD:0019701", "ICD9:026.0", "MEDGEN:57745", "Orphanet:99903", "SCTID:19044004", "UMLS:C0152062", "icd11.foundation:1104357482"]}
{"category": ["biolink:Disease"], "description": "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.", "id": "MONDO:0020533", "name": "Streptobacillary rat-bite fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Haverhill fever", "Streptobacillary fever", "streptobacillary rat-bite fever"], "xref": ["DOID:13238", "GARD:0019702", "ICD9:026.1", "MEDGEN:508864", "Orphanet:99905", "SCTID:52138004", "UMLS:C0152063", "icd11.foundation:614000128"]}
{"category": ["biolink:Disease"], "description": "A hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.", "id": "MONDO:0020535", "name": "House allergic alveolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0019703", "MEDGEN:1387737", "Orphanet:99907", "SCTID:725415009", "UMLS:C4511048", "icd11.foundation:1985023223"]}
{"category": ["biolink:Disease"], "description": "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.", "id": "MONDO:0020538", "name": "Malignant dysgerminomatous germ cell tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["dysgerminomatous germ cell cancer of ovary", "dysgerminomatous germ cell cancer of the ovary", "malignant ovarian dysgerminoma"], "xref": ["GARD:0019705", "Orphanet:99912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020539", "name": "Extragonadal non-dysgerminomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019706", "MEDGEN:1843056", "Orphanet:99913", "UMLS:C5681817"]}
{"category": ["biolink:Disease"], "description": "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.", "id": "MONDO:0020540", "name": "Ovarian gynandroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Gynandroblastoma of ovary", "Gynandroblastoma of the ovary"], "xref": ["GARD:0009665", "ICDO:8632/1", "MEDGEN:83412", "MESH:C538459", "NCIT:C3072", "Orphanet:99914", "SCTID:254867003", "UMLS:C0346178"]}
{"category": ["biolink:Disease"], "description": "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.", "id": "MONDO:0020541", "name": "Maligant granulosa cell tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["adult ovarian granulosa cell tumor", "adult ovarian granulosa cell tumour", "cancer of granulosa cell", "granulosa cell cancer", "granulosa cell malignant tumor", "granulosa cell malignant tumour", "malignant granulosa cell neoplasm", "malignant granulosa cell neoplasm of ovary", "malignant granulosa cell neoplasm of the ovary", "malignant granulosa cell tumor of ovary", "malignant granulosa cell tumor of the ovary", "malignant granulosa cell tumour of ovary", "malignant granulosa cell tumour of the ovary", "malignant ovarian granulosa cell neoplasm", "malignant ovarian granulosa cell tumor", "malignant ovarian granulosa cell tumour", "ovarian granulosa cell tumor of adults", "ovarian granulosa cell tumour of adults"], "xref": ["GARD:0019707", "MEDGEN:138043", "NCIT:C8403", "Orphanet:99915", "SCTID:254861002", "UMLS:C0346175", "icd11.foundation:148207042"]}
{"category": ["biolink:Disease"], "description": "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.", "id": "MONDO:0020542", "name": "Malignant sertoli-leydig cell tumor of ovary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["malignant ovarian Sertoli-Leydig cell tumor", "malignant ovarian Sertoli-Leydig cell tumour", "ovarian Sertoli-Leydig cell cancer", "ovarian Sertoli-Leydig cell tumor, malignant", "ovarian malignant Sertoli-Leydig cell tumor", "ovarian malignant Sertoli-Leydig cell tumour", "ovarian sertoli-Leydig cell tumor, malignant", "virilizing ovarian tumor", "virilizing ovarian tumour"], "xref": ["GARD:0005495", "ICD9:239.5", "MEDGEN:1825991", "Orphanet:99916", "SCTID:237795006", "UMLS:C5574973"]}
{"category": ["biolink:Disease"], "description": "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.", "id": "MONDO:0020543", "name": "Theca steroid-producing cell malignant tumor of ovary, not further specified", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["theca (steroid-producing) cell cancer, not further specified"], "xref": ["GARD:0019708", "MEDGEN:904268", "Orphanet:99917", "UMLS:C4274494"]}
{"category": ["biolink:Disease"], "description": "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.", "id": "MONDO:0020544", "name": "Streptococcal toxic-shock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Streptococcus caused toxic shock syndrome", "Streptococcus toxic shock syndrome", "streptococcal TSS"], "xref": ["GARD:0019709", "MEDGEN:575664", "MedDRA:10044251", "Orphanet:99918", "SCTID:240451000", "UMLS:C0343532", "icd11.foundation:197163558"]}
{"category": ["biolink:Disease"], "description": "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.", "id": "MONDO:0020545", "name": "Staphylococcal toxic-shock syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Staphylococcus caused toxic shock syndrome", "Staphylococcus toxic shock syndrome", "staphylococcal TSS"], "xref": ["GARD:0019710", "ICD9:040.89", "MEDGEN:811401", "MedDRA:10044250", "Orphanet:99919", "SCTID:240450004", "UMLS:C3714602", "icd11.foundation:788554020"]}
{"category": ["biolink:Disease"], "description": "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.", "id": "MONDO:0020546", "name": "Acute graft versus host disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["GVHD, acute", "acute graft vs. host disease", "fulminant graft versus host disease", "graft versus host disease, acute"], "xref": ["GARD:0006544", "ICD10CM:D89.810", "ICD9:279.51", "MEDGEN:208987", "MedDRA:10066260", "NCIT:C4980", "Orphanet:99920", "SCTID:402355000", "UMLS:C0856825", "icd11.foundation:83784921"]}
{"category": ["biolink:Disease"], "description": "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.", "id": "MONDO:0020547", "name": "Chronic graft versus host disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GVHD, chronic", "graft versus host disease, chronic"], "xref": ["GARD:0010964", "ICD10CM:D89.811", "ICD9:279.52", "MEDGEN:167851", "MedDRA:10066261", "NANDO:2100213", "NANDO:2200812", "NCIT:C4981", "Orphanet:99921", "SCTID:402356004", "UMLS:C0867389", "icd11.foundation:621183043"]}
{"category": ["biolink:Disease"], "description": "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.", "id": "MONDO:0020549", "name": "Invasive hydatidiform mole", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["chorioadenoma", "chorioadenoma Destruens", "chorioadenoma destruens", "invasive Mole", "invasive gestational trophoblastic neoplasm", "invasive hydatidiform Mole", "invasive hydatidiform mole"], "xref": ["GARD:0019711", "ICDO:9100/1", "MEDGEN:3055", "MESH:D002820", "NCIT:C6985", "ONCOTREE:IHM", "Orphanet:99925", "SCTID:416669000", "UMLS:C0008493"]}
{"category": ["biolink:Disease"], "description": "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.", "id": "MONDO:0020550", "name": "Gestational choriocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["gestational choriocarcinoma", "gestational choriocarcinoma (morphologic abnormality)"], "xref": ["DOID:2025", "GARD:0019712", "ICD9:181", "MEDGEN:138102", "NCIT:C4646", "Orphanet:99926", "SCTID:417570003", "UMLS:C0349557", "icd11.foundation:2136066651"]}
{"category": ["biolink:Disease"], "description": "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.", "id": "MONDO:0020552", "name": "Placental site trophoblastic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PSST", "placental site gestational trophoblastic tumor", "placental site gestational trophoblastic tumour", "placental site trophoblastic tumor", "placental site trophoblastic tumor (morphologic abnormality)", "placental site trophoblastic tumour (morphologic abnormality)", "placental-site GTT", "placental-site gestational trophoblastic neoplasm", "placental-site gestational trophoblastic tumor", "placental-site gestational trophoblastic tumour"], "xref": ["DOID:3596", "EFO:1001111", "GARD:0007403", "ICDO:9104/1", "MEDGEN:104914", "MESH:D018245", "NCIT:C3757", "ONCOTREE:PSTT", "Orphanet:99928", "SCTID:237252008", "UMLS:C0206666"]}
{"category": ["biolink:Disease"], "description": "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography", "id": "MONDO:0020553", "name": "Secondary pulmonary hemosiderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019713", "MEDGEN:909854", "Orphanet:99930", "SCTID:716712004", "UMLS:C4274326", "icd11.foundation:878618614"]}
{"category": ["biolink:Disease"], "description": "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.", "id": "MONDO:0020554", "name": "Heiner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cow's milk hypersensitivity"], "xref": ["GARD:0019714", "ICD9:518.89", "MEDGEN:844833", "Orphanet:99932", "SCTID:707441009", "UMLS:C3873343", "icd11.foundation:187112249"]}
{"category": ["biolink:Disease"], "description": "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.", "id": "MONDO:0020555", "name": "Pleuropulmonary blastoma type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["type I pleuropulmonary blastoma"], "xref": ["GARD:0019715", "ICD9:162.9", "MEDGEN:318288", "NCIT:C45626", "Orphanet:99933", "SCTID:707671008", "UMLS:C1710501"]}
{"category": ["biolink:Disease"], "description": "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.", "id": "MONDO:0020556", "name": "Pleuropulmonary blastoma type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["type II pleuropulmonary blastoma"], "xref": ["GARD:0019716", "ICD9:162.9", "MEDGEN:328133", "NCIT:C45627", "Orphanet:99934", "SCTID:707672001", "UMLS:C1710500"]}
{"category": ["biolink:Disease"], "description": "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.", "id": "MONDO:0020557", "name": "Pleuropulmonary blastoma type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["type III pleuropulmonary blastoma"], "xref": ["GARD:0019717", "ICD9:162.9", "MEDGEN:328132", "NCIT:C45628", "Orphanet:99935", "SCTID:707673006", "UMLS:C1710499"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.", "id": "MONDO:0020558", "name": "Autosomal dominant charcot-marie-tooth disease type 2k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2K", "Charcot-Marie-Tooth disease type 2K"], "xref": ["GARD:0009199", "MEDGEN:334294", "NCIT:C133886", "Orphanet:99944", "SCTID:719512003", "UMLS:C1842984"]}
{"category": ["biolink:Disease"], "description": "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.", "id": "MONDO:0020559", "name": "O'sullivan-mcleod syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019718", "MEDGEN:797656", "MedDRA:10069682", "Orphanet:99965", "UMLS:C2721741"]}
{"category": ["biolink:Disease"], "description": "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.", "id": "MONDO:0020560", "name": "Atypical teratoid rhabdoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AT/RT", "ATRT", "ATT/RHT", "CNS rhabdoid neoplasm", "CNS rhabdoid tumor", "CNS rhabdoid tumour", "atypical teratoid/rhabdoid tumor", "atypical teratoid/rhabdoid tumor (WHO grade IV)", "atypical teratoid/rhabdoid tumor (morphologic abnormality)", "atypical teratoid/rhabdoid tumour (WHO grade IV)", "atypical teratoid/rhabdoid tumour (morphologic abnormality)", "central nervous system rhabdoid neoplasm", "central nervous system rhabdoid tumor", "central nervous system rhabdoid tumour", "malignant brain rhabdoid neoplasm", "malignant brain rhabdoid tumor", "malignant brain rhabdoid tumour", "malignant rhabdoid neoplasm of brain", "malignant rhabdoid neoplasm of the brain", "malignant rhabdoid tumor of brain", "malignant rhabdoid tumor of the brain", "malignant rhabdoid tumour of brain", "malignant rhabdoid tumour of the brain", "primary malignant brain rhabdoid neoplasm", "primary malignant brain rhabdoid tumor", "primary malignant brain rhabdoid tumour", "primary malignant rhabdoid neoplasm of brain", "primary malignant rhabdoid neoplasm of the brain", "primary malignant rhabdoid tumor of brain", "primary malignant rhabdoid tumor of the brain", "primary malignant rhabdoid tumour of brain", "primary malignant rhabdoid tumour of the brain", "rhabdoid neoplasm of CNS", "rhabdoid neoplasm of central nervous system", "rhabdoid neoplasm of the CNS", "rhabdoid neoplasm of the central nervous system", "rhabdoid tumor of CNS", "rhabdoid tumor of central nervous system", "rhabdoid tumor of the CNS", "rhabdoid tumor of the central nervous system", "rhabdoid tumour of CNS", "rhabdoid tumour of central nervous system", "rhabdoid tumour of the central nervous system"], "xref": ["DOID:2129", "EFO:1002008", "GARD:0016926", "ICDO:9508/3", "MEDGEN:226853", "NANDO:2200101", "NCIT:C6906", "ONCOTREE:ATRT", "Orphanet:99966", "UMLS:C1266184"]}
{"category": ["biolink:Disease"], "description": "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.", "id": "MONDO:0020561", "name": "Myxoid/round cell liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["MRCLS", "myxoid/round-cell liposarcoma"], "xref": ["GARD:0007157", "MEDGEN:107784", "ONCOTREE:MRLS", "Orphanet:99967", "UMLS:C0545074"]}
{"category": ["biolink:Disease"], "description": "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.", "id": "MONDO:0020562", "name": "Pleomorphic liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["PLS", "pleomorphic liposarcoma", "pleomorphic liposarcoma (morphologic abnormality)"], "xref": ["DOID:5702", "EFO:0003083", "GARD:0019719", "ICD9:171.9", "ICDO:8854/3", "MEDGEN:61457", "NCIT:C3705", "ONCOTREE:PLLS", "Orphanet:99969", "SCTID:404071006", "UMLS:C0205825"]}
{"category": ["biolink:Disease"], "description": "A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.", "id": "MONDO:0020563", "name": "Dedifferentiated liposarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DDLPS", "DDLS", "dedifferentiated liposarcoma"], "xref": ["DOID:0080531", "EFO:0003085", "GARD:0019720", "ICD9:171.9", "ICDO:8858/3", "MEDGEN:60028", "NCIT:C3704", "ONCOTREE:DDLS", "Orphanet:99970", "SCTID:404072004", "UMLS:C0205824"]}
{"category": ["biolink:Disease"], "description": "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.", "id": "MONDO:0020567", "name": "Apnea of prematurity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019722", "MEDGEN:473179", "NCIT:C98823", "Orphanet:99981", "SCTID:276544005", "UMLS:C0475715", "icd11.foundation:894774581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020568", "name": "Cutaneous myiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019723", "ICD10CM:B87.0", "MEDGEN:507962", "Orphanet:99983", "SCTID:240877000", "UMLS:C0027031", "icd11.foundation:1342682193"]}
{"category": ["biolink:Disease"], "description": "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.", "id": "MONDO:0020569", "name": "Intermediate dend syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form"], "xref": ["GARD:0019724", "MEDGEN:1843317", "Orphanet:99989", "UMLS:C5680423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020571", "name": "Relapsing epidemic typhus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0019726", "MEDGEN:1826151", "Orphanet:99991", "UMLS:C5681812"]}
{"category": ["biolink:Disease"], "description": "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.", "id": "MONDO:0020572", "name": "Complex regional pain syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CRPS II", "Complex regional pain syndrome II", "causalgia"], "xref": ["DOID:3222", "EFO:1000854", "GARD:0019727", "MEDGEN:2918", "MESH:D002422", "MedDRA:10007825", "MedDRA:10064335", "NCIT:C121572", "Orphanet:99994", "SCTID:408751001", "UMLS:C0007462"]}
{"category": ["biolink:Disease"], "description": "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.", "id": "MONDO:0020574", "name": "Central nervous system nongerminomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["central nervous system nongerminomatous germ cell tumor", "nongerminomatous GCT - CNS", "nongerminomatous germ cell tumor of the CNS", "nongerminomatous germ cell tumour of the CNS"], "xref": ["GARD:0025171", "MEDGEN:760465", "NCIT:C100093", "UMLS:C1696109"]}
{"category": ["biolink:Disease"], "description": "A ventricular tachycardia that is irregular in rate and rhythm.", "id": "MONDO:0020575", "name": "Polymorphic ventricular tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polymorphic ventricular tachycardia", "ventricular tachycardia, polymorphic"], "xref": ["HP:0031677", "MEDGEN:138002", "NCIT:C111648", "SCTID:251159007", "UMLS:C0344432", "icd11.foundation:16452928"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the blood vessel wall characterized by palpable purpura.", "id": "MONDO:0020576", "name": "Cutaneous vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous vasculitis"], "xref": ["GARD:0025172", "MEDGEN:488809", "NCIT:C112210", "UMLS:C0262988"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the testis or ovary and occurs during childhood.", "id": "MONDO:0020577", "name": "Childhood gonadal germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood gonadal germ cell tumor", "gonadal germ cell tumor of childhood", "gonadal germ cell tumour of childhood", "paediatric gonadal germ cell tumour", "pediatric gonadal germ cell tumor"], "xref": ["GARD:0025173", "MEDGEN:859251", "NCIT:C114801", "UMLS:C3899657"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the mucous membranes.", "id": "MONDO:0020579", "name": "Mucositis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of mucosa", "mucosa inflammation", "mucositis"], "xref": ["MEDGEN:87165", "MESH:D052016", "NCIT:C115965", "UMLS:C0333355"]}
{"category": ["biolink:Disease"], "description": "A term that refers to germinoma, seminoma, or dysgerminoma.", "id": "MONDO:0020580", "name": "Germinomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["germinomatous germ cell tumor"], "xref": ["GARD:0025174", "MEDGEN:888719", "NCIT:C121618", "UMLS:C4054897"]}
{"category": ["biolink:Disease"], "description": "A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.", "id": "MONDO:0020581", "name": "Benign pecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign PEComa", "benign PEComa, nos", "benign PEComa, not otherwise specified", "benign neoplasm with perivascular epithelioid cell differentiation", "neoplasm with perivascular epithelioid cell differentiation, benign", "typical PEComa"], "xref": ["GARD:0025175", "MEDGEN:825530", "NCIT:C121791", "UMLS:C3839685"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the uterine ligament.", "id": "MONDO:0020582", "name": "Benign uterine ligament neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign uterine ligament neoplasm"], "xref": ["MEDGEN:923071", "NCIT:C126493", "UMLS:C0865093"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 17 is affected.", "id": "MONDO:0020583", "name": "Chromosome 17 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1380521", "NCIT:C129438", "UMLS:C4329664"]}
{"category": ["biolink:Disease"], "description": "Any form of anemia that results from the absence of, or the defective action of, any enzyme.", "id": "MONDO:0020584", "name": "Anemia due to enzyme disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anemia due to enzyme disorder"], "xref": ["GARD:0025177", "MEDGEN:105411", "NCIT:C35472", "UMLS:C0494226"]}
{"category": ["biolink:Disease"], "description": "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.", "id": "MONDO:0020585", "name": "Anemia due to erythrocyte enzyme disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anemia due to erythrocyte enzyme disorder"], "xref": ["GARD:0025178", "MEDGEN:1383362", "NCIT:C131630", "UMLS:C4329304"]}
{"category": ["biolink:Disease"], "description": "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.", "id": "MONDO:0020586", "name": "Factor v deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["factor V deficiency"], "xref": ["GARD:0025179", "MEDGEN:1369551", "MESH:D005166", "NANDO:2200674", "NCIT:C131738", "SCTID:4320005", "UMLS:C4317320"]}
{"category": ["biolink:Disease"], "description": "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.", "id": "MONDO:0020587", "name": "Factor xi deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["factor XI deficiency"], "xref": ["GARD:0025180", "MEDGEN:1386956", "MESH:D005173", "NANDO:2200679", "NCIT:C131739", "SCTID:767713001", "UMLS:C4321502"]}
{"category": ["biolink:Disease"], "description": "A lung tumor that arises from perivascular epithelioid cells (PECs).", "id": "MONDO:0020588", "name": "Lung pecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung PEComa", "lung pecomatous tumor", "lung pecomatous tumour"], "xref": ["GARD:0025181", "MEDGEN:1639012", "NCIT:C142783", "UMLS:C4684821"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.", "id": "MONDO:0020589", "name": "Cardiac germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cardiac germ cell tumor", "heart germ cell tumor", "heart germ cell tumour"], "xref": ["GARD:0025182", "MEDGEN:1633290", "NCIT:C147005", "UMLS:C4687640"]}
{"category": ["biolink:Disease"], "description": "Infection due to organisms from the genus Mycobacteria.", "id": "MONDO:0020590", "name": "Mycobacterial infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mycobacterial infection", "mycobacteriosis", "mycobacterium infection"], "xref": ["MEDGEN:6479", "MESH:D009164", "NCIT:C26831", "SCTID:88415009", "UMLS:C0026918"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.", "id": "MONDO:0020592", "name": "Disorder of pharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chordate pharynx disease", "chordate pharynx disease or disorder", "disease of chordate pharynx", "disease or disorder of chordate pharynx", "disorder of chordate pharynx", "pharyngeal disease", "pharyngeal disorder"], "xref": ["MEDGEN:10691", "NCIT:C26850", "SCTID:75860007", "UMLS:C0031345"]}
{"category": ["biolink:Disease"], "description": "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.", "id": "MONDO:0020593", "name": "Trichoblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Brooke's tumor", "Brooke's tumour", "trichoblastoma", "trichoepithelioma", "trichoepithelioma, benign", "trichogenic adnexal tumor", "trichogenic adnexal tumour", "trichogenic trichoblastoma"], "xref": ["ICDO:8100/0", "MEDGEN:138112", "NCIT:C27132", "UMLS:C0349658", "icd11.foundation:1414797713"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).", "id": "MONDO:0020594", "name": "Abducens nerve disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VIth nerve disorder", "abducens nerve disease", "abducens nerve disease or disorder", "abducens nerve disorder", "disease of abducens nerve", "disease or disorder of abducens nerve", "disorder of abducens nerve"], "xref": ["MEDGEN:78767", "NCIT:C27593", "SCTID:398925009", "UMLS:C0271355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020596", "name": "Mucin-producing carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mucin-producing carcinoma"], "xref": ["MEDGEN:87225", "NCIT:C27825", "UMLS:C0334368"]}
{"category": ["biolink:Disease"], "description": "An angiokeratoma that is located on the scrotum.", "id": "MONDO:0020597", "name": "Angiokeratoma of scrotum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiokeratoma of scrotum", "angiokeratoma of the scrotum", "fordyce-type angiokeratoma of scrotum", "fordyce-type angiokeratoma of the scrotum", "scrotal angiokeratoma", "scrotal fordyce-type angiokeratoma", "scrotum angiokeratoma"], "xref": ["MEDGEN:1866900", "NCIT:C7752", "SCTID:735082004", "UMLS:C5960005"]}
{"category": ["biolink:Disease"], "description": "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.", "id": "MONDO:0020598", "name": "Malabsorption syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malabsorption", "malabsorption syndrome"], "xref": ["EFO:0009554", "MEDGEN:44256", "MESH:D008286", "NCIT:C3214", "SCTID:32230006", "UMLS:C0024523"]}
{"category": ["biolink:Disease"], "description": "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.", "id": "MONDO:0020599", "name": "Acquired coagulation factor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired coagulation factor deficiency", "acquired coagulation protein disease"], "xref": ["GARD:0025183", "ICD10CM:D68.4", "MEDGEN:98", "NANDO:1200896", "NCIT:C34347", "SCTID:25904003", "UMLS:C0001169"]}
{"category": ["biolink:Disease"], "description": "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.", "id": "MONDO:0020600", "name": "Acute pharyngitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acute pharyngitis", "pharyngitis, acute"], "xref": ["EFO:0009657", "ICD10CM:J02", "ICD10WHO:J02", "MEDGEN:114", "NCIT:C34355", "SCTID:363746003", "UMLS:C0001344", "icd11.foundation:1791890273"]}
{"category": ["biolink:Disease"], "description": "Viral encephalitis that is transmitted by mosquitos.", "id": "MONDO:0020601", "name": "Mosquito-borne viral encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mosquito-borne viral encephalitis"], "xref": ["GARD:0025184", "ICD10CM:A83", "ICD10WHO:A83", "MEDGEN:152945", "NCIT:C34823", "UMLS:C0751098"]}
{"category": ["biolink:Disease"], "description": "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.", "id": "MONDO:0020602", "name": "Simpson-golabi-behmel syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GPC3 Simpson-Golabi-Behmel syndrome", "SGBS1", "Simpson dysmorphia syndrome", "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3", "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive", "bulldog syndrome"], "xref": ["DOID:0060248", "GARD:0025185", "MEDGEN:162917", "OMIM:312870", "UMLS:C0796154"]}
{"category": ["biolink:Disease"], "description": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.", "id": "MONDO:0020603", "name": "X-linked chondrodysplasia punctata 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CDPX2", "CDPXD", "Conrad Hunermann Happle syndrome", "Conradi Hunermann syndrome", "Conradi Hünermann Syndrome", "Conradi-Hunermann syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "EBP chondrodysplasia punctata", "Happle syndrome", "X-linked chondrodysplasia punctata type 2", "chondrodysplasia punctata 2 X-linked dominant", "chondrodysplasia punctata 2, X-linked dominant", "chondrodysplasia punctata caused by mutation in EBP", "chondrodysplasia punctata, X-linked dominant, X-linked dominant"], "xref": ["DOID:0080352", "GARD:0006189", "MEDGEN:79381", "NANDO:1200630", "NANDO:2201357", "NORD:1005", "OMIM:302960", "Orphanet:35173", "UMLS:C0282102"]}
{"category": ["biolink:Disease"], "description": "X-linked dominant form of disease.", "id": "MONDO:0020604", "name": "X-linked dominant disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080009", "MEDGEN:1798084", "UMLS:C5566661"]}
{"category": ["biolink:Disease"], "description": "X-linked recessive form of disease.", "id": "MONDO:0020605", "name": "X-linked recessive disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080012", "MEDGEN:1798083", "UMLS:C5566660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020606", "name": "Sex-linked disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sex-linked hereditary disorder"], "xref": ["ICD9:758.81", "MEDGEN:183658", "SCTID:82852009", "UMLS:C0949683"]}
{"category": ["biolink:Disease"], "description": "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.", "id": "MONDO:0020607", "name": "Liddle syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Liddle syndrome 1", "Liddle syndrome caused by mutation in SCNN1B", "SCNN1B Liddle syndrome"], "xref": ["GARD:0025186", "OMIM:177200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020628", "name": "Microcephaly, growth restriction, and increased sister chromatid exchange 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly, growth restriction, and increased sister chromatid exchange 2"], "xref": ["GARD:0018507", "MEDGEN:1648384", "OMIM:618097", "UMLS:C4748176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020629", "name": "Microcephaly, growth restriction and increased sister chromatid exchange", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MGRISCE"], "xref": ["GARD:0025188", "OMIMPS:210900"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020630", "name": "Developmental and epileptic encephalopathy 91", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["DEE91", "developmental and epileptic encephalopathy 91", "epileptic encephalopathy, infantile or early childhood, 1"], "xref": ["DOID:0080472", "GARD:0025189", "MEDGEN:1626137", "OMIM:617711", "UMLS:C4540199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020631", "name": "Developmental and epileptic encephalopathy 92", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE92", "IECEE2", "developmental and epileptic encephalopathy 92", "epileptic encephalopathy, infantile or early childhood, 2"], "xref": ["DOID:0080471", "GARD:0016258", "MEDGEN:1638319", "OMIM:617829", "UMLS:C4693362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020632", "name": "Developmental and epileptic encephalopathy 93", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE93", "developmental and epileptic encephalopathy 93", "epileptic encephalopathy, infantile or early childhood, 3"], "xref": ["DOID:0112275", "GARD:0016285", "MEDGEN:1642888", "OMIM:618012", "UMLS:C4693934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020633", "name": "Anaplastic cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaplastic malignant neoplasm"], "xref": ["MEDGEN:231373", "NCIT:C36025", "UMLS:C1332287"]}
{"category": ["biolink:Disease"], "description": "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.", "id": "MONDO:0020634", "name": "Grade iii meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade III meningioma", "grade 3 meningioma", "grade III meningioma", "meningioma, malignant"], "xref": ["GARD:0025190", "MEDGEN:79186", "NCIT:C38938", "UMLS:C0280801"]}
{"category": ["biolink:Disease"], "description": "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).", "id": "MONDO:0020635", "name": "Anaplastic meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anaplastic (malignant) meningioma", "anaplastic meningioma", "malignant meningioma", "meningioma, anaplastic, malignant"], "xref": ["GARD:0025191", "ICDO:9530/3", "MEDGEN:75478", "NCIT:C4051", "ONCOTREE:ANM", "UMLS:C0259785"]}
{"category": ["biolink:Disease"], "description": "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.", "id": "MONDO:0020638", "name": "Superficial spreading melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SSM", "cutaneous superficial spreading melanoma", "pagetoid melanoma", "superficial spreading cutaneous (skin) melanoma", "superficial spreading malignant melanoma of skin", "superficial spreading malignant melanoma of the skin", "superficial spreading malignant skin melanoma", "superficial spreading melanoma", "superficial spreading melanoma of skin", "superficial spreading melanoma of the skin"], "xref": ["ICDO:8743/3", "MEDGEN:87242", "NCIT:C9152", "SCTID:254730000", "UMLS:C0334438", "icd11.foundation:208661037"]}
{"category": ["biolink:Disease"], "description": "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.", "id": "MONDO:0020639", "name": "Monosomy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:6432", "MESH:D009006", "NCIT:C3239", "UMLS:C0026499"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the brain secondary to an immune response triggered by the body itself.", "id": "MONDO:0020640", "name": "Autoimmune encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["autoimmune encephalitis"], "xref": ["GARD:0011979", "MEDGEN:1804547", "NANDO:2100248", "NANDO:2200902", "NCIT:C122414", "Orphanet:622014", "SCTID:95643007", "UMLS:C5671289", "icd11.foundation:241281019"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.", "id": "MONDO:0020641", "name": "Respiratory tract neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of respiratory tract", "neoplasm of the respiratory tract", "neoplasm, respiratory tract", "neoplasms, respiratory tract", "respiratory system neoplasm", "respiratory tract neoplasm", "respiratory tract tumor", "respiratory tract tumour", "tract neoplasm, respiratory", "tract neoplasms, respiratory", "tumor of respiratory tract", "tumor of the respiratory tract", "tumour of respiratory tract", "tumour of the respiratory tract"], "xref": ["EFO:0003853", "ICD10CM:C30-C39", "MEDGEN:11200", "MESH:D012142", "NCIT:C3355", "SCTID:126667002", "UMLS:C0035244"]}
{"category": ["biolink:Disease"], "description": "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.", "id": "MONDO:0020642", "name": "Polycystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PKD - polycystic kidney disease", "fibrocystic renal disease", "polycystic kidney disease"], "xref": ["DOID:0080322", "EFO:0008620", "MEDGEN:9639", "MESH:D007690", "NANDO:1200367", "NANDO:2200152", "NCIT:C75464", "OMIMPS:173900", "SCTID:82525005", "UMLS:C0022680"]}
{"category": ["biolink:Disease"], "description": "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.", "id": "MONDO:0020644", "name": "Lung non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung non-Hodgkin lymphoma", "lung non-Hodgkin's lymphoma", "non-Hodgkin lymphoma of lung", "primary lung non-Hodgkin's lymphoma"], "xref": ["GARD:0025193", "MEDGEN:235267", "NCIT:C5684", "UMLS:C1334453"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of osteopetrosis (disease).", "id": "MONDO:0020645", "name": "Autosomal dominant osteopetrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["OPTA", "autosomal dominant osteopetrosis (disease)", "osteopetrosis (disease), autosomal dominant"], "xref": ["GARD:0025194", "MEDGEN:1378401", "NCIT:C129732", "OMIMPS:607634", "UMLS:C4272579"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.", "id": "MONDO:0020646", "name": "Ocular adnexal lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OAL", "non-Hodgkin lymphoma of ocular adnexa", "ocular adnexa non-Hodgkin lymphoma", "ocular adnexal lymphoma"], "xref": ["GARD:0025195", "MEDGEN:453939", "NCIT:C88145", "UMLS:C2981712"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020647", "name": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MFRG", "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"], "xref": ["MEDGEN:1648412", "OMIM:618142", "UMLS:C4748348"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020648", "name": "Rubella encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025196", "ICD10CM:B06.01", "MEDGEN:536765", "SCTID:192689006", "UMLS:C0238099"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.", "id": "MONDO:0020649", "name": "Warty carcinoma of the penis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["condylomatous carcinoma of penis", "condylomatous carcinoma of the penis", "condylomatous penile squamous cell carcinoma", "condylomatous squamous cell carcinoma of penis", "condylomatous squamous cell carcinoma of the penis", "squamous cell carcinoma of penis, condylomatous type", "squamous cell carcinoma of penis, warty type", "squamous cell carcinoma of the penis, condylomatous type", "squamous cell carcinoma of the penis, warty type", "warty carcinoma of penis", "warty carcinoma of the penis", "warty penile squamous cell carcinoma", "warty squamous cell carcinoma of penis", "warty squamous cell carcinoma of the penis"], "xref": ["GARD:0025197", "MEDGEN:234997", "NCIT:C6981", "ONCOTREE:WPSCC", "UMLS:C1337009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020650", "name": "Germ cell tumor of the vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025198", "MEDGEN:925540", "NCIT:C128294", "ONCOTREE:VGCT", "UMLS:C4288008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020651", "name": "Mixed germ cell tumor of vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["ONCOTREE:VMGCT"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020652", "name": "Immature teratoma of vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["ONCOTREE:VIMT"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.", "id": "MONDO:0020653", "name": "Vaginal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoma of the vagina", "adenocarcinoma of vagina", "vagina adenocarcinoma", "vaginal adenocarcinoma"], "xref": ["GARD:0025199", "MEDGEN:124643", "NCIT:C7981", "ONCOTREE:VA", "UMLS:C0279668"]}
{"category": ["biolink:Disease"], "description": "A transitional cell carcinoma that arises from the renal pelvis and ureter.", "id": "MONDO:0020654", "name": "Renal pelvis/ureter urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["TCC of renal pelvis and ureter", "TCC of the renal pelvis and ureter", "UTUC", "renal pelvis and ureter TCC", "renal pelvis and ureter transitional cell cancer", "renal pelvis and ureter transitional cell carcinoma", "renal pelvis and ureter urothelial carcinoma", "transitional cell cancer of renal pelvis and ureter", "transitional cell cancer of the renal pelvis and ureter", "transitional cell carcinoma of renal pelvis and ureter", "transitional cell carcinoma of the pelvis and ureter", "transitional cell carcinoma of the upper urinary tract", "upper tract urothelial carcinoma", "urothelial carcinoma of the renal pelvis and ureter"], "xref": ["GARD:0009376", "NCIT:C7716", "ONCOTREE:UTUC", "Orphanet:598216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020655", "name": "Juvenile ankylosing spondylitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0040092", "ICD10CM:M08.1", "MEDGEN:592563", "SCTID:239805001", "UMLS:C0409675"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.", "id": "MONDO:0020656", "name": "Human papillomavirus-related penile squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HPV-related penile squamous cell carcinoma", "human papilloma virus related penile squamous cell carcinoma", "human papilloma virus-related penile squamous cell carcinoma", "human papillomavirus-related penile squamous cell carcinoma"], "xref": ["GARD:0025200", "MEDGEN:235178", "NCIT:C27682", "UMLS:C1334056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020657", "name": "Human papillomavirus-related squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPV-related squamous cell carcinoma", "human papilloma virus related squamous cell carcinoma", "human papilloma virus-related squamous cell carcinoma", "human papillomavirus-related squamous cell carcinoma"], "xref": ["GARD:0025201", "MEDGEN:272726", "NCIT:C27683", "UMLS:C1334057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020658", "name": "Infiltrating ureter transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:6845", "GARD:0025202"]}
{"category": ["biolink:Disease"], "description": "A conventional osteosarcoma characterized by the predominance of osteoid matrix.", "id": "MONDO:0020660", "name": "Osteoblastic osteosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["osteoblastic osteosarcoma"], "xref": ["GARD:0025203", "MEDGEN:312376", "NCIT:C53953", "UMLS:C1704328"]}
{"category": ["biolink:Disease"], "description": "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.", "id": "MONDO:0020661", "name": "Undifferentiated round cell sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["undifferentiated round cell sarcoma"], "xref": ["GARD:0025204", "MEDGEN:885673", "NCIT:C121799", "UMLS:C4048304"]}
{"category": ["biolink:Disease"], "description": "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.", "id": "MONDO:0020662", "name": "Borderline ovarian serous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["borderline ovarian serous neoplasm", "borderline ovarian serous tumor", "borderline serous neoplasm of ovary", "borderline serous neoplasm of the ovary", "borderline serous tumor of ovary", "borderline serous tumor of the ovary", "borderline serous tumour of ovary", "borderline serous tumour of the ovary", "ovarian serous neoplasm of low malignant potential", "ovarian serous tumor of low malignant potential", "ovarian serous tumour of low malignant potential", "proliferating ovarian serous neoplasm", "proliferating ovarian serous tumor", "proliferating ovarian serous tumour", "proliferating serous neoplasm of ovary", "proliferating serous neoplasm of the ovary", "proliferating serous tumor of ovary", "proliferating serous tumor of the ovary", "proliferating serous tumour of ovary", "proliferating serous tumour of the ovary", "serous neoplasm of ovary with low malignant potential", "serous neoplasm of the ovary with low malignant potential", "serous ovarian neoplasm of low malignant potential", "serous ovarian tumor of low malignant potential", "serous ovarian tumour of low malignant potential", "serous tumor of ovary with low malignant potential", "serous tumor of the ovary with low malignant potential", "serous tumour of ovary with low malignant potential", "serous tumour of the ovary with low malignant potential"], "xref": ["EFO:1000139", "GARD:0025205", "MEDGEN:231957", "NCIT:C5226", "UMLS:C1332598"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm characterized by the presence of atypical spindle cells.", "id": "MONDO:0020663", "name": "Malignant spindle cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant spindle cell neoplasm", "malignant spindle cell tumor", "malignant spindle cell tumour", "spindle cell cancer"], "xref": ["MEDGEN:90746", "NCIT:C27091", "UMLS:C0334230"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.", "id": "MONDO:0020664", "name": "Spindle cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spindle cell neoplasm", "spindle cell tumor", "spindle cell tumour"], "xref": ["EFO:0000705", "MEDGEN:234806", "NCIT:C27263", "UMLS:C1336052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020665", "name": "High grade malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["high grade malignant neoplasm"], "xref": ["MEDGEN:234350", "NCIT:C36046", "UMLS:C1334017"]}
{"category": ["biolink:Disease"], "description": "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.", "id": "MONDO:0020666", "name": "Löfgren syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Loefgrens syndrome", "Löfgrens syndrome"], "xref": ["GARD:0025206", "MEDGEN:573580", "SCTID:238676008", "UMLS:C0340164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020667", "name": "Antley-bixler syndrome without genital anomalies or disordered steroidogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"], "xref": ["DOID:0081290", "GARD:0022389", "MEDGEN:422448", "OMIM:207410", "Orphanet:596008", "UMLS:C2936791"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm involving the paranasal sinuses.", "id": "MONDO:0020669", "name": "Paranasal sinus cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant accessory sinus neoplasm", "malignant accessory sinus tumor", "malignant accessory sinus tumour", "malignant neoplasm of accessory sinus", "malignant neoplasm of paranasal sinus", "malignant neoplasm of the accessory sinus", "malignant neoplasm of the paranasal sinus", "malignant paranasal sinus neoplasm", "malignant paranasal sinus tumor", "malignant paranasal sinus tumour", "malignant tumor of accessory sinus", "malignant tumor of paranasal sinus", "malignant tumor of the accessory sinus", "malignant tumor of the paranasal sinus", "malignant tumour of accessory sinus", "malignant tumour of paranasal sinus", "malignant tumour of the accessory sinus", "malignant tumour of the paranasal sinus"], "xref": ["GARD:0025207", "MEDGEN:56305", "NCIT:C7487", "UMLS:C0153474"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.", "id": "MONDO:0020672", "name": "Vascular occlusion disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["vascular occlusion"]}
{"category": ["biolink:Disease"], "description": "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.", "id": "MONDO:0020673", "name": "Arterial occlusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arterial obstruction", "arterial occlusion"], "xref": ["MEDGEN:78117", "NCIT:C35318", "UMLS:C0264995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020674", "name": "Vascular insufficiency disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vascular insufficiency"], "xref": ["MEDGEN:534461", "SCTID:86341008", "UMLS:C0232352"]}
{"category": ["biolink:Disease"], "description": "Disease of the large or small intestine that is caused by inadequate blood supply.", "id": "MONDO:0020675", "name": "Ischemic bowel disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ischaemic bowel disease", "ischemic bowel disease"], "xref": ["MEDGEN:412148", "NCIT:C35212", "UMLS:C2004435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020677", "name": "Sudden hearing loss disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:41426", "SCTID:79471008", "UMLS:C0011057"]}
{"category": ["biolink:Disease"], "description": "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).", "id": "MONDO:0020678", "name": "Sensorineural hearing loss disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SNHL", "sensorineural deafness", "sensorineural hearing loss", "sensorineural hearing loss disorder"], "xref": ["DOID:10003", "EFO:1001176", "HP:0000407", "MEDGEN:9164", "NCIT:C26739", "SCTID:60700002", "UMLS:C0018784"]}
{"category": ["biolink:Disease"], "description": "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.", "id": "MONDO:0020679", "name": "Conductive hearing loss disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["conductive deafness", "conductive hearing loss"], "xref": ["MEDGEN:9163", "NCIT:C27645", "SCTID:44057004", "UMLS:C0018777"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.", "id": "MONDO:0020680", "name": "Acute bronchiolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute bronchiolitis"], "xref": ["ICD10CM:J21", "ICD10WHO:J21", "ICD9:466.1", "ICD9:466.19", "MEDGEN:113", "NCIT:C39659", "SCTID:5505005", "UMLS:C0001311", "icd11.foundation:1310075986"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020681", "name": "Ehlers-danlos syndrome, musculocontractural type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080736", "GARD:0025208", "NCIT:C168975", "OMIM:601776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020682", "name": "Ehlers-danlos syndrome, spondylodysplastic type, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EDSSPD1", "Ehlers-Danlos syndrome with Short stature and Limb anomalies", "Ehlers-Danlos syndrome, progeroid type 1", "Ehlers-Danlos syndrome, progeroid type, 1", "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "PDS, defective biosynthesis of", "XGPT deficiency", "dermatan sulfate proteoglycan", "dermatan sulphate proteoglycan", "galactosyltransferase 1 deficiency", "proteodermatan sulfate, defective biosynthesis of", "xylosylprotein 4-Beta-galactosyltransferase deficiency"], "xref": ["DOID:0080738", "GARD:0025209", "MEDGEN:1646889", "OMIM:130070", "UMLS:C4552003"]}
{"category": ["biolink:Disease"], "description": "Disease having a short and relatively severe course.", "id": "MONDO:0020683", "name": "Acute disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["acute disease", "acute diseases", "disease, acute"], "xref": ["ICD9:799.89", "MEDGEN:1738", "MESH:D000208", "SCTID:2704003", "UMLS:C0001314"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020684", "name": "Ehlers-danlos syndrome, periodontal type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080986", "GARD:0025210", "MEDGEN:1642148", "OMIM:130080", "UMLS:C4551499"]}
{"category": ["biolink:Disease"], "description": "An ependymal tumor arising from the infratentorial region of the brain.", "id": "MONDO:0020685", "name": "Infratentorial ependymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["infratentorial ependymal tumor"], "xref": ["GARD:0025211", "MEDGEN:1385705", "NCIT:C131612", "UMLS:C4330489"]}
{"category": ["biolink:Disease"], "description": "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.", "id": "MONDO:0020686", "name": "Acute tonsillitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute tonsillitis"], "xref": ["ICD10CM:J03", "ICD10WHO:J03", "ICD9:463", "MEDGEN:472878", "NCIT:C97142", "SCTID:17741008", "UMLS:C0001361", "icd11.foundation:260431605"]}
{"category": ["biolink:Disease"], "description": "An ependymal tumor arising from the supratentorial region of the brain.", "id": "MONDO:0020687", "name": "Supratentorial ependymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["supratentorial ependymal tumor"], "xref": ["GARD:0025212", "MEDGEN:1379596", "NCIT:C131611", "UMLS:C4331360"]}
{"category": ["biolink:Disease"], "description": "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.", "id": "MONDO:0020688", "name": "Spinal cord ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001426", "MEDGEN:155706", "MESH:D020760", "UMLS:C0752130"]}
{"category": ["biolink:Disease"], "description": "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)", "id": "MONDO:0020689", "name": "Aids dementia complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AIDS dementia", "AIDS dementia complex"], "xref": ["EFO:0002608", "GARD:0008250", "ICD9:294.8", "MEDGEN:177", "MESH:D015526", "NCIT:C2864", "SCTID:421529006", "UMLS:C0001849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020690", "name": "Adult glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult glioblastoma", "adult glioblastoma multiforme", "grade IV adult astrocytic neoplasm", "grade IV adult astrocytic tumor", "grade IV adult astrocytic tumour"], "xref": ["GARD:0025213", "MEDGEN:124527", "NANDO:2200087", "NCIT:C9094", "UMLS:C0278878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020692", "name": "Spondylocostal dysostosis 1, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spondylocostal dysostosis 1, autosomal recessive"], "xref": ["DOID:0112365", "GARD:0010726", "OMIM:277300"]}
{"category": ["biolink:Disease"], "description": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.", "id": "MONDO:0020693", "name": "Glycogen storage disease due to liver phosphorylase kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017261", "Orphanet:264580"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.", "id": "MONDO:0020694", "name": "Salivary gland epithelial myoepithelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["salivary gland epithelial myoepithelial carcinoma"], "xref": ["GARD:0027873", "MEDGEN:234769", "NCIT:C35701", "UMLS:C1335900"]}
{"category": ["biolink:Disease"], "description": "A type of cerebral palsy characterized by decreased muscle tone.", "id": "MONDO:0020695", "name": "Hypotonic cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypotonic cerebral palsy"], "xref": ["MEDGEN:98296", "NCIT:C116906", "SCTID:192958009", "UMLS:C0394007"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by low serum levels of vitamin B12, either inherited or acquired.", "id": "MONDO:0020696", "name": "Vitamin b12 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cobalamin deficiency", "hypocobalaminemia", "vitamin b12 deficiency"], "xref": ["EFO:0000734", "HP:0100502", "ICD9:266.2", "MEDGEN:21880", "MESH:D014806", "NCIT:C131684", "SCTID:190634004", "UMLS:C0042847", "icd11.foundation:1366882206"]}
{"category": ["biolink:Disease"], "description": "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.", "id": "MONDO:0020697", "name": "Lung epithelial-myoepithelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["lung epithelial-myoepithelial cancer", "lung epithelial-myoepithelial carcinoma"], "xref": ["GARD:0027874", "MEDGEN:353868", "NCIT:C45545", "UMLS:C1708770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020698", "name": "Inborn error of biotin metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025214"]}
{"category": ["biolink:Disease"], "description": "A deficiency in biotin through either inherited or acquired causes.", "id": "MONDO:0020699", "name": "Biotin metabolic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:754289", "UMLS:C2937225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020701", "name": "Brachydactyly type a1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020702", "name": "Autosomal dominant epidermolytic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001039", "NANDO:1200611", "NANDO:2200988", "NCIT:C62569", "Orphanet:312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020703", "name": "Erythroid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["erythroid neoplasm", "erythroid tumor", "erythroid tumour"], "xref": ["GARD:0025216", "MEDGEN:272584", "NCIT:C7064", "UMLS:C1333438"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.", "id": "MONDO:0020704", "name": "Inherited rippling muscle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025217", "MedDRA:10069417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020705", "medic_stub": true, "name": "neural tube defects, susceptibility to", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.", "id": "MONDO:0020706", "name": "Heberden's node", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Heberden's node", "tuberculum arthriticum"], "xref": ["MEDGEN:6761", "NCIT:C34671", "SCTID:239869009", "UMLS:C0018862"]}
{"category": ["biolink:Disease"], "description": "Hearing loss resulting from disorders of the central nervous system auditory pathways.", "id": "MONDO:0020707", "name": "Central hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central hearing loss"], "xref": ["MEDGEN:9162", "NCIT:C34662", "UMLS:C0018776", "icd11.foundation:1513090105"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.", "id": "MONDO:0020708", "name": "Brachial amyotrophic diplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FAS", "brachial amyotrophic diplegia", "flail arm syndrome", "man-in-barrel syndrome"], "xref": ["MEDGEN:1617621", "NCIT:C133085", "UMLS:C4522181"]}
{"category": ["biolink:Disease"], "description": "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.", "id": "MONDO:0020709", "name": "Majocchi granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Majocchi's granuloma"], "xref": ["MEDGEN:702632", "UMLS:C1279621"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the amnion.", "id": "MONDO:0020710", "name": "Amnionitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amnionitis", "infection of amniotic cavity"], "xref": ["ICD9:658.40", "MEDGEN:1490", "NCIT:C50459", "SCTID:10573002", "UMLS:C0002631"]}
{"category": ["biolink:Disease"], "description": "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.", "id": "MONDO:0020711", "name": "Selective peripheral resistance to thyroid hormone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PerRTH"], "xref": ["GARD:0025218"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020712", "name": "46,xy sex reversal 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XY gonadal dysgenesis, complete, SRY-related", "46,XY sex reversal 1", "46,XY sex reversal type 1", "46,XY sex reversal, SRY-related", "46,XY true hermaphroditism, SRY-related", "46XY sex reversal 1, Y-linked", "SRXY1"], "xref": ["DOID:0111778", "GARD:0025219", "MEDGEN:412662", "NCIT:C128188", "OMIM:400044", "UMLS:C2748896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020713", "name": "Pulmonary venoocclusive disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PVOD1"], "xref": ["DOID:0081268", "GARD:0025220", "MEDGEN:854500", "OMIM:265450", "UMLS:C3887658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020714", "name": "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025221", "MEDGEN:1679560", "OMIM:251900", "UMLS:C5193223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020716", "name": "Thyroid dyshormonogenesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TDH1", "familial thyroid dyshormonogenesis 1", "hypothyroidism, congenital, due to dyshormonogenesis, 1", "iodine accumulation, transport, or trapping defect", "thyroid dyshormonogenesis type 1", "thyroid hormonogenesis, genetic defect in, 1"], "xref": ["DOID:0112185", "GARD:0018188", "MEDGEN:336422", "OMIM:274400", "UMLS:C1848805"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020717", "name": "Autosomal dominant wooly hair", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["woolly hair, autosomal dominant", "wooly hair, autosomal dominant"], "xref": ["DOID:0111573", "GARD:0025222", "MEDGEN:348571", "OMIM:194300", "UMLS:C1860238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020718", "name": "Congenital short bowel syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital short bowel syndrome 1", "congenital short bowel syndrome due to CLMP variation"], "xref": ["GARD:0018585", "OMIM:615237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020720", "name": "X-linked hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["X-linked hypophosphatemic rickets", "X-linked hypophosphatemic rickets (recessive or dominant)"], "xref": ["GARD:0025223", "MEDGEN:761927", "MESH:D053098", "NCIT:C123265", "UMLS:C3540852", "icd11.foundation:1169135980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020721", "name": "X-linked sideroblastic anemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["X-linked sideroblastic anemia", "XLSA", "anemia, sideroblastic, 1, X-linked recessive", "sideroblastic anemia, X-linked"], "xref": ["DOID:0060063", "GARD:0009456", "MEDGEN:1638704", "MESH:C536761", "OMIM:300751", "Orphanet:75563", "SCTID:62677000", "UMLS:C4551511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020722", "name": "Nephrolithiasis susceptibility caused by slc26a1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["DOID:0080652", "MEDGEN:1830325", "OMIM:167030", "UMLS:C5779632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020723", "name": "Vitamin d-dependent rickets, type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["vitamin D-dependent rickets, type 1A", "vitamin D-dependent rickets, type I"], "xref": ["DOID:0080886", "GARD:0018636", "OMIM:264700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020724", "name": "Cerebral cavernous malformation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cerebral cavernous malformation 1", "cerebral cavernous malformations-1", "familial cerebral cavernous malformation 1"], "xref": ["DOID:0080491", "GARD:0025224", "MEDGEN:237128", "OMIM:116860", "UMLS:C1366911"]}
{"category": ["biolink:Disease"], "description": "Anemia due to a disorder that is persistent or long-standing in nature.", "id": "MONDO:0020725", "name": "Anemia due to chronic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anaemia of chronic disease", "anaemia of chronic illness", "anaemia of chronic inflammation", "anemia due to chronic disorder", "anemia of chronic disease", "anemia of chronic illness", "anemia of chronic inflammation"], "xref": ["ICD9:285.29", "MEDGEN:507442", "NCIT:C35659", "SCTID:234347009", "UMLS:C0002873"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.", "id": "MONDO:0020726", "name": "Tubulointerstitial kidney disease, autosomal dominant, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["ADTKD-MUC1", "MCKD1", "MUC1-related autosomal dominant medullary cystic kidney disease", "MUCI-related ADTKD", "autosomal dominant medullary cystic kidney disease without hyperuricemia", "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1", "medullary cystic kidney disease 1", "medullary cystic kidney disease type 1", "medullary cystic kidney disease, autosomal dominant"], "xref": ["DOID:0061118", "GARD:0007002", "MEDGEN:358137", "NCIT:C123171", "OMIM:174000", "Orphanet:88949", "UMLS:C1868139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020727", "name": "Combined oxidative phosphorylation deficiency 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 22"], "xref": ["DOID:0111498", "GARD:0025225", "MEDGEN:863499", "OMIM:616045", "UMLS:C4015062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020728", "name": "Hypouricemia, renal 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025226", "MEDGEN:141632", "OMIM:220150", "UMLS:C0473219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020729", "name": "Autosomal recessive agammaglobulinemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGM1", "autosomal recessive agammaglobulinemia 1"], "xref": ["DOID:0081136", "GARD:0025227", "MEDGEN:463494", "OMIM:601495", "UMLS:C3152144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020730", "name": "Carpal tunnel syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTS1", "amyotrophy, thenar, of carpal origin", "carpal tunnel syndrome, familial"], "xref": ["DOID:0070466", "GARD:0025228", "MEDGEN:1830382", "OMIM:115430", "UMLS:C5779776"]}
{"category": ["biolink:Disease"], "description": "A viral infection that is transmitted by an arthropod.", "id": "MONDO:0020731", "name": "Arbovirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arbovirus infection", "arthropod-borne viral infection"], "xref": ["EFO:1001269", "MEDGEN:389", "MESH:D001102", "NCIT:C34396", "SCTID:40610006", "UMLS:C0003723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020733", "name": "Proximal symphalangism 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080787", "GARD:0025229", "MEDGEN:811492", "OMIM:185800", "UMLS:C3714899"]}
{"category": ["biolink:Disease"], "description": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the GNAS1 gene.", "id": "MONDO:0020735", "name": "Acth-independent macronodular adrenal hyperplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACTH-independent macronodular adrenal hyperplasia 1", "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation", "ACTH-independent macronodular adrenocortical hyperplasia", "AIMAH1", "Cushing syndrome, adrenal, due to AIMAH", "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia", "corticotropin-independent macronodular adrenal hyperplasia"], "xref": ["DOID:0111623", "GARD:0025230", "MEDGEN:347456", "OMIM:219080", "UMLS:C1857451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020736", "name": "Uncombable hair syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["uncombable hair syndrome 1"], "xref": ["GARD:0015122", "MEDGEN:1640179", "OMIM:191480", "UMLS:C4551573"]}
{"category": ["biolink:Disease"], "description": "An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.", "id": "MONDO:0020737", "name": "Optic atrophy 10 with or without ataxia, intellectual disability, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPA10", "RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures", "RTN4IP1-related optic atrophy with or without neurological features", "optic atrophy 10 with or without ataxia, mental retardation, and seizures"], "xref": ["DOID:0111434", "GARD:0018200", "MEDGEN:905727", "OMIM:616732", "UMLS:C4225227"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020738", "name": "Multiple benign circumferential skin creases on limbs 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["symmetric circumferential skin creases, congenital, 1"], "xref": ["DOID:0112242", "GARD:0025231", "MEDGEN:1631916", "OMIM:156610", "UMLS:C4551592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020739", "name": "Hypercalcemia, infantile, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HCINF1", "autosomal recessive infantile hypercalcemia 1", "hypercalcemia, infantile, 1"], "xref": ["DOID:0061136", "GARD:0018434", "OMIM:143880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020740", "name": "Ectodermal dysplasia and immunodeficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDAID1", "ectodermal dysplasia and immunodeficiency 1, X-linked recessive"], "xref": ["DOID:0081078", "GARD:0025232", "MEDGEN:375787", "NCIT:C176592", "OMIM:300291", "UMLS:C1846008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020741", "name": "Pyridoxine-dependent epilepsy caused by aldh7a1 mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"], "xref": ["DOID:0070519", "GARD:0025233", "OMIM:266100"]}
{"category": ["biolink:Disease"], "description": "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.", "id": "MONDO:0020743", "name": "Mixed phenotype acute leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MPAL", "mixed phenotype acute leukemia"], "xref": ["GARD:0017972", "MEDGEN:417342", "MedDRA:10067399", "NANDO:2200018", "NCIT:C82179", "Orphanet:530995", "UMLS:C2826025"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)", "id": "MONDO:0020744", "name": "Mobitz type i atrioventricular block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AV block second degree Mobitz type I", "AV block second degree Möbitz type I", "Mobitz I", "Mobitz type I", "Mobitz type I second degree AV block", "Möbitz I", "Möbitz type I second degree AV block", "Wenckebach block", "second degree atrioventricular block Mobitz type I", "second degree atrioventricular block Möbitz type I", "type 1 2nd degree AV block", "type 1 second degree AV block", "type 1 second degree atrioventricular block"], "xref": ["MEDGEN:82687", "NCIT:C62017", "UMLS:C0264907"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020745", "name": "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:otar"], "synonym": ["VACRDS", "autosomal dominant cardiac arrhythmia (Kuhn)", "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome"], "xref": ["MEDGEN:1781114", "OMIM:115000", "UMLS:C5542154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020746", "name": "Contractures, pterygia, and variable skeletal fusions syndrome 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"], "xref": ["DOID:0081322", "GARD:0025234", "MEDGEN:1676457", "OMIM:618469", "UMLS:C5193114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020747", "name": "Sitosterolemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["STSL1", "sitosterolemia 1"], "xref": ["DOID:0070634", "GARD:0025235", "MEDGEN:440869", "OMIM:210250", "UMLS:C2749759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020748", "name": "Sitosterolemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["STSL2"], "xref": ["DOID:0060983", "GARD:0016372", "MEDGEN:1684715", "OMIM:618666", "UMLS:C5231453"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020749", "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"], "xref": ["GARD:0025236", "MEDGEN:1648386", "OMIM:221770", "UMLS:C4721893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020750", "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025237", "MEDGEN:1648374", "OMIM:618193", "UMLS:C4748657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020751", "name": "Orthostatic hypotension 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025238", "MEDGEN:1648282", "OMIM:618182", "UMLS:C4748569"]}
{"category": ["biolink:Disease"], "description": "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.", "id": "MONDO:0020753", "name": "Orthocoronavirinae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Coronavinae infectious disease", "coronavirus infectious disease"], "xref": ["DOID:0080599", "MESH:D018352"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020754", "name": "Visceral myopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["visceral myopathy", "visceral myopathy 1"], "xref": ["GARD:0027875", "MEDGEN:1785391", "OMIM:155310", "UMLS:C5542197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020756", "name": "Migraine, familial hemiplegic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FHM1", "MHP1", "familial hemiplegic migraine type 1", "hemiplegic migraine, familial type 1", "migraine, familial hemiplegic 1, with progressive cerebellar ataxia", "migraine, familial hemiplegic, 1", "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia", "migraine, familial hemiplegic, type 1", "migraine, sporadic hemiplegic"], "xref": ["DOID:0111181", "GARD:0002638", "MEDGEN:331388", "MESH:C536890", "OMIM:141500", "UMLS:C1832884", "icd11.foundation:1583236457"]}
{"category": ["biolink:Disease"], "description": "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.", "id": "MONDO:0020757", "name": "Sporadic hemiplegic migraine", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sporadic hemiplegic migraine"], "xref": ["GARD:0025239", "MEDGEN:318737", "NCIT:C117011", "UMLS:C1832903", "icd11.foundation:1303340532"]}
{"category": ["biolink:Disease"], "description": "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.", "id": "MONDO:0020760", "name": "Skin squamous cell carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intraepidermal squamous cell carcinoma", "skin squamous cell cancer in situ", "skin squamous cell carcinoma in situ", "squamous cell carcinoma in situ of skin", "squamous cell carcinoma in situ of the skin"], "xref": ["MEDGEN:378389", "NCIT:C2906", "UMLS:C2314897"]}
{"category": ["biolink:Disease"], "description": "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.", "id": "MONDO:0020761", "name": "Bowen disease of the skin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Bowen Disease", "Bowen disease", "Bowen disease of the skin", "Bowen's disease of the skin", "Bowens Disease", "Disease, Bowen", "Disease, Bowen's", "intraepidermal squamous cell carcinoma, Bowen type"], "xref": ["GARD:0005948", "ICDO:8081/2", "MEDGEN:14207", "MESH:D001913", "NCIT:C62571", "NORD:868", "UMLS:C0006079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020762", "name": "Diencephalic-mesencephalic junction dysplasia syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DMJDS2"], "xref": ["GARD:0025240", "MEDGEN:1684846", "OMIM:618646", "UMLS:C5231440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020763", "name": "Menke-hennekam syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Menke-Hennekam syndrome 1"], "xref": ["GARD:0025241", "MEDGEN:1675629", "OMIM:618332", "UMLS:C5193034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020765", "name": "Neuropathy, congenital hypomyelinating, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHN2", "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2", "hypomyelinating neuropathy, congenital, 2"], "xref": ["DOID:0070679", "GARD:0025242", "MEDGEN:1648446", "OMIM:618184", "UMLS:C4722277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020766", "name": "Neuropathy, congenital hypomyelinating, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHN3", "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3", "hypomyelinating neuropathy, congenital, 3"], "xref": ["DOID:0070680", "GARD:0018567", "MEDGEN:1648417", "OMIM:618186", "UMLS:C4748608"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.", "id": "MONDO:0020767", "name": "Cauda equina syndrome with neurogenic bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cauda equina syndrome with neurogenic bladder"], "xref": ["ICD9:344.61", "MEDGEN:2916", "NCIT:C34453", "SCTID:12454008", "UMLS:C0007459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020768", "name": "X-linked deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["DFNX", "X-linked deafness", "deafness, X-linked", "deafness, X-linked, DFN"], "xref": ["OMIMPS:304500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020769", "name": "Menke-hennekam syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Menke-Hennekam syndrome 2"], "xref": ["GARD:0025243", "MEDGEN:1676668", "OMIM:618333", "UMLS:C5193035"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020770", "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070465", "GARD:0025244", "MEDGEN:1673607", "OMIM:618387", "UMLS:C5193070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020771", "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SCAN"], "xref": ["GARD:0025245", "MEDGEN:337609", "OMIMPS:607250", "UMLS:C1846574"]}
{"category": ["biolink:Disease"], "description": "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)", "id": "MONDO:0020773", "name": "Cerebrospinal fluid rhinorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebrospinal fluid rhinorrhea"], "xref": ["GTR:AN1353832", "GTR:AN1355639", "HP:0030998", "ICD9:349.81", "MEDGEN:3331", "MESH:D002559", "NCIT:C84627", "SCTID:85638002", "UMLS:C0007815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020774", "name": "Menke-hennekam syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022371", "MEDGEN:1814480", "OMIMPS:618332", "Orphanet:592574", "UMLS:C5681632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020775", "name": "Congenital disorder of glycosylation with defective fucosylation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025246", "OMIM:618005"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the family CHLAMYDIACEAE.", "id": "MONDO:0020776", "name": "Chlamydiaceae infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001288", "MEDGEN:3013", "MESH:D002694", "UMLS:C0008153"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020777", "name": "Congenital disorder of glycosylation with defective fucosylation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025247", "MEDGEN:1676187", "OMIM:618324", "UMLS:C5193028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020778", "name": "Cone-rod dystrophy and hearing loss 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1682048", "OMIM:617236", "UMLS:C5193018"]}
{"category": ["biolink:Disease"], "description": "Any dysfunction in the growth of cartilage.", "id": "MONDO:0020779", "name": "Cartilage development disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cartilage development disorder", "chondrodystrophy"], "xref": ["GARD:0006051", "ICD9:756.4", "ICD9:756.9", "MEDGEN:935", "NCIT:C34466", "SCTID:67988000", "UMLS:C0008449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020780", "name": "Cone-rod dystrophy and hearing loss 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1675017", "OMIM:618358", "UMLS:C5193051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020781", "name": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NAD(P)HX epimerase deficiency"], "xref": ["GARD:0017991", "MEDGEN:934642", "OMIM:617186", "Orphanet:555407", "UMLS:C4310675"]}
{"category": ["biolink:Disease"], "description": "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.", "id": "MONDO:0020782", "name": "Chronic gingivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic gingivitis"], "xref": ["ICD10CM:K05.1", "ICD9:523.1", "ICD9:523.10", "MEDGEN:965", "NCIT:C34474", "SCTID:72621003", "UMLS:C0008684", "icd11.foundation:1542018172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020783", "name": "Capillary malformation-arteriovenous malformation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMAVM1", "RASA1-related capillary malformation-arteriovenous malformation", "capillary malformation-arteriovenous malformation 1"], "xref": ["GARD:0009787", "ICD9:759.6", "MEDGEN:1648501", "OMIM:608354", "OMIM:608355", "Orphanet:693907", "SCTID:234143003", "UMLS:C4747394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020785", "name": "Capillary malformation-arteriovenous malformation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0016307", "MEDGEN:1648502", "OMIM:618196", "Orphanet:693912", "UMLS:C4748670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020787", "name": "Hypomagnesemia, seizures, and intellectual disability 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025248", "MEDGEN:906582", "OMIM:616418", "UMLS:C4225333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020788", "name": "Hypomagnesemia, seizures, and intellectual disability 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025249", "MEDGEN:1675904", "OMIM:618314", "UMLS:C5193023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020789", "name": "Pseudo-torch syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PTORCH1", "pseudo-TORCH syndrome 1", "pseudo-TORCH syndrome type 1"], "xref": ["GARD:0025250", "MEDGEN:1639355", "OMIM:251290", "UMLS:C4552078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020790", "name": "Gaze palsy, familial horizontal, with progressive scoliosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HGPPS", "HGPPS1", "gaze palsy, familial horizontal, with progressive scoliosis 1", "gaze palsy, familial horizontal, with progressive scoliosis, 1"], "xref": ["GARD:0025251", "MEDGEN:1647423", "OMIM:607313", "UMLS:C4551964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020791", "name": "Corneal dystrophy, meesmann, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080670", "GARD:0025252", "MEDGEN:1684668", "OMIM:122100", "UMLS:C5231499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020792", "name": "Dwarfism with tall vertebrae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "xref": ["MEDGEN:338839", "MESH:C535725", "OMIM:126950", "UMLS:C1851996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020793", "name": "Oculopharyngodistal myopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPDM1", "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement", "oculopharyngodistal myopathy 1"], "xref": ["DOID:0081297", "GARD:0015097", "MEDGEN:1684682", "NANDO:1200219", "OMIM:164310", "UMLS:C5231388"]}
{"category": ["biolink:Disease"], "description": "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.", "id": "MONDO:0020794", "name": "Colorectal medullary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal medullary carcinoma"], "xref": ["MEDGEN:317525", "NCIT:C43590", "UMLS:C1707438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020795", "name": "Silver-russell syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SILVER-RUSSELL SYNDROME 5", "SRS5", "Silver-Russell syndrome 5"], "xref": ["GARD:0018465", "MEDGEN:1713787", "OMIM:618908", "UMLS:C5394456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020796", "name": "Silver-russell syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRS1"], "xref": ["GARD:0025253", "MEDGEN:1718472", "OMIM:180860", "UMLS:C5393125"]}
{"category": ["biolink:Disease"], "description": "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.", "id": "MONDO:0020797", "name": "Decompression sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bends", "decompression sickness"], "xref": ["ICD9:993.3", "MEDGEN:41434", "MESH:D003665", "SCTID:89684003", "UMLS:C0011119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020798", "name": "Hypoparathyroidism, familial isolated, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FIH2", "hypoparathyroidism, familial isolated 2", "hypoparathyroidism, familial isolated, 2"], "xref": ["DOID:0061151", "GARD:0018257", "MEDGEN:1715177", "OMIM:618883", "UMLS:C5394383"]}
{"category": ["biolink:Disease"], "description": "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.", "id": "MONDO:0020799", "name": "Basal cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal cell tumor", "basal cell tumour"], "xref": ["EFO:1001763", "ICDO:8090/1", "MEDGEN:104921", "MESH:D018295", "NCIT:C3784", "SCTID:127570002", "UMLS:C0206710"]}
{"category": ["biolink:Disease"], "description": "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.", "id": "MONDO:0020800", "name": "Demyelinating disease of central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["demyelinating CNS disease", "demyelinating disease central nervous system (CNS)", "demyelinating disease of central nervous system", "demyelinating disorder of central nervous system", "demyelinating disorders of the central nervous system"], "xref": ["ICD10CM:G35-G37", "ICD9:341.8", "ICD9:341.9", "MEDGEN:3719", "NCIT:C34526", "SCTID:6118003", "UMLS:C0011302"]}
{"category": ["biolink:Disease"], "description": "A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.", "id": "MONDO:0020801", "name": "Rectal medullary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rectal medullary carcinoma"], "xref": ["MEDGEN:364314", "NCIT:C60640", "UMLS:C1882915"]}
{"category": ["biolink:Disease"], "description": "A carcinoma involving the basal cells.", "id": "MONDO:0020804", "name": "Basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["basal cell cancer", "epithelioma, basal cell", "malignant basal cell neoplasm"], "xref": ["EFO:0004193", "MEDGEN:2870", "MESH:D002280", "NCIT:C156767", "NCIT:C7586", "UMLS:C0007117"]}
{"category": ["biolink:Disease"], "description": "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.", "id": "MONDO:0020805", "name": "Benign basal cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign basal cell tumor", "benign basal cell tumour"], "xref": ["MEDGEN:96885", "NCIT:C4743", "UMLS:C0474802"]}
{"category": ["biolink:Disease"], "description": "A heart block that is initiated in the sinoatrial node.", "id": "MONDO:0020806", "name": "Sinoatrial block", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:19984", "MESH:D012848", "SCTID:65778007", "UMLS:C0037188", "icd11.foundation:884453307"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.", "id": "MONDO:0020807", "name": "Ovarian sertoli-stromal cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ovarian Sertoli-Stromal Cell Tumor", "Ovarian Sertoli-Stromal Cell Tumour", "Ovarian Sertoli-Stromal Tumor", "Ovarian Sertoli-Stromal Tumour"], "xref": ["GARD:0027876", "MEDGEN:309515", "NCIT:C39966", "UMLS:C1518732"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.", "id": "MONDO:0020808", "name": "Testicular sertoli cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Sertoli Cell Neoplasm of Testis", "Sertoli Cell Neoplasm of the Testis", "Sertoli Cell Tumor of Testis", "Sertoli Cell Tumor of the Testis", "Sertoli Cell Tumour of Testis", "Sertoli Cell Tumour of the Testis", "Testicular Sertoli Cell Neoplasm", "Testicular Sertoli Cell Tumor", "Testicular Sertoli Cell Tumor, NOS", "Testicular Sertoli Cell Tumor, Not Otherwise Specified", "Testicular Sertoli Cell Tumour"], "xref": ["GARD:0025254", "MEDGEN:91165", "NCIT:C4672", "UMLS:C0349671"]}
{"category": ["biolink:Disease"], "description": "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.", "id": "MONDO:0020809", "name": "Benign sertoli cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Benign Androblastoma", "Benign Sertoli Cell Tumor", "Benign Sertoli Cell Tumour", "SERTOLI CELL TUMOR, BENIGN"], "xref": ["ICDO:8630/0", "MEDGEN:361204", "NCIT:C67012", "UMLS:C1879826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020811", "name": "Mitochondrial complex iii deficiency, nuclear type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025255", "OMIMPS:124000"]}
{"category": ["biolink:Disease"], "description": "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.", "id": "MONDO:0020812", "name": "Exposure, dental pulp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:41473", "MESH:D003789", "UMLS:C0011406"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.", "id": "MONDO:0020813", "name": "Benign testicular sertoli cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign sertoli cell neoplasm of testis", "benign sertoli cell neoplasm of the testis", "benign sertoli cell tumor of testis", "benign sertoli cell tumor of the testis", "benign sertoli cell tumour of testis", "benign sertoli cell tumour of the testis", "benign testicular sertoli cell neoplasm", "benign testicular sertoli cell tumor"], "xref": ["GARD:0025256", "MEDGEN:231945", "NCIT:C6522", "UMLS:C1332540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020814", "name": "Miliaria alba", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:590455", "SCTID:201191004", "UMLS:C0406493"]}
{"category": ["biolink:Disease"], "description": "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.", "id": "MONDO:0020815", "name": "Dentigerous cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dentigerous cyst"], "xref": ["MEDGEN:8309", "MESH:D003803", "NCIT:C173832", "SCTID:9245008", "UMLS:C0011428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020816", "name": "Miliaria papulosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:590456", "SCTID:201192006", "UMLS:C0406494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020817", "name": "Miliaria vesiculosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:590457", "SCTID:201195008", "UMLS:C0406495"]}
{"category": ["biolink:Disease"], "description": "Dentin formed by normal pulp after completion of root end formation.", "id": "MONDO:0020818", "name": "Secondary dentine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["secondary dentin", "secondary dentine"], "xref": ["MEDGEN:3746", "MESH:D003809", "SCTID:59818004", "UMLS:C0011434"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020820", "name": "Distal arthrogryposis type 2b1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA2B1", "arthrogryposis, distal, type 2B1"], "xref": ["DOID:0111600", "GARD:0009909", "MEDGEN:1676961", "OMIM:601680", "UMLS:C5193014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020823", "name": "Infantile miliaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:697609", "SCTID:402824003", "UMLS:C1274264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020830", "name": "Diaphragmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diaphragmatitis", "diaphragmitis"], "xref": ["GARD:0025257", "MEDGEN:507638", "SCTID:73160007", "UMLS:C0011985", "icd11.foundation:1124735890"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020831", "name": "Congenital vertebral-cardiac-renal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VCRL", "vertebral, cardiac, renal, and limb defects syndrome"], "xref": ["GARD:0017961", "MEDGEN:1814457", "OMIMPS:617660", "Orphanet:521438", "UMLS:C5680183"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020835", "name": "Methemoglobinemia, alpha type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["methemoglobinemia, alpha type"], "xref": ["GARD:0016277", "MEDGEN:1635511", "OMIM:617973", "UMLS:C4693798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020837", "name": "Oocyte maturation defect 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OOMD5", "oocyte maturation defect 5"], "xref": ["MEDGEN:1644330", "OMIM:617996", "UMLS:C4693865"]}
{"category": ["biolink:Disease"], "description": "Infection of the anterior nasal structures by Corynebacterium diphtheriae.", "id": "MONDO:0020838", "name": "Anterior nasal diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anterior nasal diphtheria"], "xref": ["GARD:0025258", "ICD9:032.2", "MEDGEN:41598", "NCIT:C34542", "SCTID:15682004", "UMLS:C0012553"]}
{"category": ["biolink:Disease"], "description": "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.", "id": "MONDO:0020840", "name": "Pulmonary alveolar proteinosis with hypogammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OAS1 deficiency", "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "PAPHG", "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia", "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "pulmonary alveolar proteinosis with hypogammaglobulinemia"], "xref": ["DOID:0061070", "MEDGEN:1648298", "OMIM:618042", "Orphanet:572428", "UMLS:C4747984"]}
{"category": ["biolink:Disease"], "description": "An an autosomal recessive disorder characterized by intellectual disability associated with ataxia, in which the cause of the disease is a variation in the BRAT1 gene.", "id": "MONDO:0020841", "name": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDCAS", "neurodevelopmental disorder with cerebellar atrophy and with or without seizures"], "xref": ["MEDGEN:1648373", "OMIM:618056", "UMLS:C4748032"]}
{"category": ["biolink:Disease"], "description": "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.", "id": "MONDO:0020843", "name": "Pseudomembranous diphtheritic conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["conjunctival diphtheria", "pseudomembranous diphtheritic conjunctivitis"], "xref": ["GARD:0025259", "ICD9:032.81", "MEDGEN:3856", "NCIT:C34543", "SCTID:7773002", "UMLS:C0012554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020845", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEOB5", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5", "progressive external ophthalmoplegia, autosomal recessive 5"], "xref": ["DOID:0111524", "GARD:0025260", "MEDGEN:1648331", "OMIM:618098", "UMLS:C4748184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020846", "name": "Intellectual disability, autosomal recessive 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MENTAL RETARDATION, autosomal recessive 64", "MRT64"], "xref": ["DOID:0081225", "GARD:0025261", "MEDGEN:1648279", "OMIM:618103", "UMLS:C4748192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020847", "name": "Intellectual disability, autosomal dominant 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MENTAL RETARDATION, autosomal dominant 58", "MRD58"], "xref": ["DOID:0061032", "GARD:0016476", "MEDGEN:1648488", "OMIM:618106", "UMLS:C4748195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020848", "name": "Osteopetrosis, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPTA3", "OSTEOPETROSIS, autosomal dominant 3"], "xref": ["GARD:0025262", "MEDGEN:1648454", "OMIM:618107", "UMLS:C4748197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020849", "name": "Immunodeficiency 57", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD57", "immunodeficiency 57 with autoinflammation"], "xref": ["DOID:0111952", "MEDGEN:1648306", "OMIM:618108", "UMLS:C4748212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020850", "name": "Intellectual disability, autosomal recessive 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MRT65", "intellectual disability, autosomal recessive 65", "mental retardation, autosomal recessive 65"], "xref": ["DOID:0081226", "GARD:0022578", "MEDGEN:1648401", "OMIM:618109", "UMLS:C4748219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020851", "name": "Spermatogenic failure 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPGF30", "spermatogenic failure 30"], "xref": ["DOID:0111913", "GARD:0016291", "MEDGEN:1648394", "OMIM:618110", "UMLS:C4748224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020852", "name": "Spermatogenic failure 31", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF31", "spermatogenic failure 31"], "xref": ["DOID:0111922", "MEDGEN:1648419", "OMIM:618112", "UMLS:C4748234"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020853", "name": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Encephalitis/encephalopathy, mild, with reversible splenial lesion", "MMERV", "encephalitis/encephalopathy, mild, with reversible myelin vacuolization"], "xref": ["MEDGEN:1648328", "OMIM:618113", "UMLS:C4722446"]}
{"category": ["biolink:Disease"], "description": "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.", "id": "MONDO:0020854", "name": "Liddle syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LIDLS2", "Liddle syndrome 2", "Liddle syndrome caused by mutation in SCNN1G", "SCNN1G Liddle syndrome"], "xref": ["GARD:0025263", "MEDGEN:1648476", "OMIM:618114", "UMLS:C4748251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020855", "name": "Spermatogenic failure 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPGF32", "spermatogenic failure 32"], "xref": ["DOID:0111925", "GARD:0016292", "MEDGEN:1648444", "OMIM:618115", "UMLS:C4748253"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020856", "name": "Bone marrow failure syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BMFS4", "BONE MARROW FAILURE SYNDROME 4"], "xref": ["GARD:0025264", "MEDGEN:1648485", "OMIM:618116", "UMLS:C4748257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020857", "name": "Ovarian dysgenesis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ODG7", "OVARIAN DYSGENESIS 7"], "xref": ["DOID:0080499", "GARD:0018043", "MEDGEN:1648458", "OMIM:618117", "UMLS:C4748263"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene.", "id": "MONDO:0020858", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC5DN5", "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5", "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type", "mitochondrial complex v (atp synthase) deficiency"], "xref": ["DOID:0070463", "GARD:0018670", "MEDGEN:1648429", "OMIM:618120", "UMLS:C4748269"]}
{"category": ["biolink:Disease"], "description": "Infection of the fauces by Corynebacterium diphtheriae.", "id": "MONDO:0020860", "name": "Faucial diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["faucial diphtheria"], "xref": ["GARD:0025265", "ICD9:032.0", "MEDGEN:3857", "NCIT:C34545", "SCTID:3419005", "UMLS:C0012556"]}
{"category": ["biolink:Disease"], "description": "Infection of the larynx by Corynebacterium diphtheriae.", "id": "MONDO:0020863", "name": "Laryngeal diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["laryngeal diphtheria"], "xref": ["GARD:0025266", "ICD10CM:A36.2", "ICD9:032.3", "MEDGEN:4336", "NCIT:C34546", "SCTID:50215002", "UMLS:C0012557", "icd11.foundation:1101542926"]}
{"category": ["biolink:Disease"], "description": "Infection of the nasopharynx by Corynebacterium diphtheriae.", "id": "MONDO:0020866", "name": "Nasopharyngeal diphtheria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nasopharyngeal diphtheria"], "xref": ["GARD:0025267", "ICD10CM:A36.1", "ICD9:032.1", "MEDGEN:4337", "NCIT:C34547", "SCTID:75589004", "UMLS:C0012558"]}
{"category": ["biolink:Disease"], "description": "Infection with the organism Escherichia Coli.", "id": "MONDO:0020920", "name": "Escherichia coli infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["e coli infection", "escherichia coli infection"], "xref": ["EFO:1001318", "GTR:AN0474198", "GTR:AN0485754", "GTR:AN0485755", "HP:0002740", "MEDGEN:4543", "MESH:D004927", "NCIT:C34594", "SCTID:71057007", "UMLS:C0014836"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020927", "name": "Postaxial polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025268", "MEDGEN:67394", "OMIMPS:174200", "UMLS:C0220697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0020937", "name": "Contractures, pterygia, and variable skeletal fusions syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025269", "OMIMPS:178110"]}
{"category": ["biolink:Disease"], "description": "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.", "id": "MONDO:0020944", "name": "Fungal infection of eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fungal infection of eye"], "xref": ["ICD9:117.9", "MEDGEN:41935", "MESH:D015821", "SCTID:31194008", "UMLS:C0015405"]}
{"category": ["biolink:Disease"], "description": "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.", "id": "MONDO:0020947", "name": "Parasitic eye infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["parasitic eye infection"], "xref": ["ICD9:136.9", "MEDGEN:8752", "MESH:D015822", "SCTID:312418006", "UMLS:C0015406"]}
{"category": ["biolink:Disease"], "description": "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.", "id": "MONDO:0020950", "name": "Viral eye infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["viral eye infection"], "xref": ["MEDGEN:8753", "MESH:D015828", "SCTID:312132001", "UMLS:C0015407"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by the organism Mansonella ozzardi.", "id": "MONDO:0020959", "name": "Mansonella ozzardi infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mansonella ozzardi infection"], "xref": ["GARD:0025270", "ICD9:125.5", "MEDGEN:5183", "NCIT:C34612", "SCTID:30865009", "UMLS:C0016089"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.", "id": "MONDO:0020971", "name": "Gonococcal urethritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gc urethritis", "gonococcal urethritis"], "xref": ["MEDGEN:42278", "NCIT:C26787", "SCTID:236682002", "UMLS:C0018078", "icd11.foundation:684710834"]}
{"category": ["biolink:Disease"], "description": "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.", "id": "MONDO:0020974", "name": "Laryngeal granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["laryngeal granuloma"], "xref": ["ICD9:478.79", "MEDGEN:6674", "MESH:D006102", "SCTID:72211003", "UMLS:C0018196"]}
{"category": ["biolink:Disease"], "description": "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.", "id": "MONDO:0020977", "name": "Granulomatous prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["granulomatous prostatitis"], "xref": ["ICD10CM:N41.4", "ICD9:601.8", "MEDGEN:42294", "NCIT:C26789", "SCTID:61500009", "UMLS:C0018204", "icd11.foundation:66037326"]}
{"category": ["biolink:Disease"], "description": "A hamartoma characterized by localized pilosebaceous apparatus malformation.", "id": "MONDO:0020979", "name": "Pilosebaceous hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pilosebaceous hamartoma"], "xref": ["MEDGEN:277515", "NCIT:C5565", "UMLS:C1335410", "icd11.foundation:59912591"]}
{"category": ["biolink:Disease"], "description": "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.", "id": "MONDO:0020980", "name": "Hair nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hair nevus", "hairy nevus", "nevoid hypertrichosis"], "xref": ["MEDGEN:6707", "NCIT:C3074", "SCTID:201161009", "UMLS:C0018508"]}
{"category": ["biolink:Disease"], "description": "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).", "id": "MONDO:0020983", "name": "Myocardial rupture", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010468", "MEDGEN:6750", "MESH:D006341", "UMLS:C0018813"]}
{"category": ["biolink:Disease"], "description": "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.", "id": "MONDO:0020989", "name": "Hereditary persistence of fetal hemoglobin", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["hereditary persistence of fetal hemoglobin"], "xref": ["GARD:0025271", "ICD10CM:D56.4", "ICD9:282.7", "MEDGEN:5495", "NCIT:C129072", "SCTID:191201002", "UMLS:C0019025"]}
{"category": ["biolink:Disease"], "description": "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease", "id": "MONDO:0021001", "name": "Hemochromatosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:omim_susceptibility", "mondo:otar", "mondo:rare"], "synonym": ["C282Y/C282Y hemochromatosis", "HFE-associated hereditary hemochromatosis", "HFE-related hemochromatosis", "HFE1", "classic hemochromatosis", "hemochromatosis", "hemochromatosis type 1", "hemochromatosis, type 1"], "xref": ["DOID:0111029", "EFO:0006513", "ICD9:275.01", "MEDGEN:854011", "NCIT:C84764", "OMIM:235200", "Orphanet:139498", "UMLS:C3469186"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.", "id": "MONDO:0021002", "name": "Syndactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["syndactyly (disease)"], "xref": ["DOID:11193", "HP:0001159", "ICD10CM:Q70", "ICD9:755.1", "MEDGEN:52619", "MESH:D013576", "MedDRA:10042778", "UMLS:C0039075"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.", "id": "MONDO:0021003", "name": "Polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperdactyly", "polydactylism", "polydactyly", "polydactyly (disease)"], "xref": ["DOID:1148", "HP:0010442", "ICD10CM:Q69", "ICD10WHO:Q69", "ICD9:755.0", "ICD9:755.00", "MEDGEN:57774", "MESH:D017689", "MedDRA:10036063", "NCIT:C87110", "OMIM:603596", "SCTID:367506006", "UMLS:C0152427"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.", "id": "MONDO:0021004", "name": "Brachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brachydactyly", "brachydactyly (disease)"], "xref": ["DOID:0050581", "HP:0001156", "MEDGEN:67454", "MESH:D059327", "SCTID:43476002", "UMLS:C0221357", "icd11.foundation:598200019"]}
{"category": ["biolink:Disease"], "description": "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.", "id": "MONDO:0021005", "name": "Faciodigitogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111824", "GARD:0004775", "MedDRA:10067148", "Orphanet:915"]}
{"category": ["biolink:Disease"], "description": "An antiphospholipid syndrome that occurs alongside another autoimmune disorder.", "id": "MONDO:0021008", "name": "Secondary antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025272", "ICD9:795.79", "MEDGEN:592743", "SCTID:239895006", "UMLS:C0409983", "icd11.foundation:138987181"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.", "id": "MONDO:0021009", "name": "Salivary gland mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucoepidermoid carcinoma of salivary gland", "mucoepidermoid carcinoma of the salivary gland", "saliva-secreting gland mucoepidermoid carcinoma", "salivary gland mucoepidermoid carcinoma"], "xref": ["DOID:0081293", "GARD:0025273", "MEDGEN:277630", "NCIT:C5908", "SCTID:423708008", "UMLS:C1335903"]}
{"category": ["biolink:Disease"], "description": "A malignant vascular neoplasm of the skin arising from the lymphatic vessels.", "id": "MONDO:0021010", "name": "Skin lymphangiosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lymphangiosarcoma of Stewart and Treves", "lymphangiosarcoma of skin", "lymphangiosarcoma of the skin", "skin lymphangiosarcoma"], "xref": ["GARD:0025274", "ICD9:171.2", "MEDGEN:87536", "NCIT:C4490", "SCTID:62497000", "UMLS:C0346082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021011", "name": "Hereditary progressive chorea without dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BHC", "chorea, benign hereditary", "chorea, hereditary benign", "hereditary progressive chorea without dementia"], "xref": ["GARD:0025275", "MEDGEN:98278", "OMIM:118700", "UMLS:C0393584"]}
{"category": ["biolink:Disease"], "description": "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.", "id": "MONDO:0021013", "name": "Trichothiodystrophy 4, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["MPLKIP nonphotosensitive trichothiodystrophy", "Pollitt syndrome", "TTD4", "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP", "trichothiodystrophy 4, nonphotosensitive"], "xref": ["DOID:0050528", "GARD:0005271", "ICD9:704.8", "ICD9:783.43", "MEDGEN:272036", "NCIT:C146899", "OMIM:234050", "Orphanet:75790", "SCTID:403796005", "UMLS:C1313961"]}
{"category": ["biolink:Disease"], "description": "A disease caused by dysfunction of synapses.", "id": "MONDO:0021017", "name": "Synaptopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.", "id": "MONDO:0021018", "name": "Autosomal dominant limb-girdle muscular dystrophy type 1d (dnajb6)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNAJB6 autosomal dominant limb-girdle muscular dystrophy", "LGMD1D", "LGMD1D (DNAJB6)", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6", "muscular dystrophy, limb-girdle, autosomal dominant 1"], "xref": ["DOID:0110305", "GARD:0012528", "MEDGEN:1648441", "MESH:C566370", "OMIM:603511", "Orphanet:34516", "UMLS:C4721885"]}
{"category": ["biolink:Disease"], "description": "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.", "id": "MONDO:0021019", "name": "X-linked recessive ocular albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Nettleship-Falls syndrome", "OA1", "XLOA", "ocular albinism type 1", "ocular albinism, Nettleship-Falls type", "ocular albinism, type I, Nettleship-Falls type"], "xref": ["GARD:0008471", "ICD9:270.2", "MEDGEN:90991", "MESH:C537863", "NCIT:C118785", "OMIM:300500", "Orphanet:54", "SCTID:78642008", "UMLS:C0342684", "icd11.foundation:846740259"]}
{"category": ["biolink:Disease"], "description": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).", "id": "MONDO:0021020", "name": "Crigler-najjar syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Crigler-Najjar syndrome, type 1", "Crigler-Najjar syndrome, type I", "UGT deficiency type 1", "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1", "bilirubin-UGT deficiency type 1", "hereditary unconjugated hyperbilirubinemia type 1", "hyperbilirubinemia, Crigler-Najjar type 1"], "xref": ["GARD:0000047", "MEDGEN:41346", "MedDRA:10057034", "OMIM:218800", "Orphanet:79234", "SCTID:8933000", "UMLS:C0010324", "icd11.foundation:1098453659"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021021", "name": "Craniodiaphyseal dysplasia, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDD", "craniodiaphyseal dysplasia, autosomal dominant"], "xref": ["DOID:0080807", "GARD:0000249", "MEDGEN:382678", "MESH:C567275", "OMIM:122860", "UMLS:C2675746"]}
{"category": ["biolink:Disease"], "description": "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.", "id": "MONDO:0021022", "name": "Hereditary hyperekplexia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kok disease", "Stiff baby syndrome", "congenital stiff man syndrome", "familial startle disease", "hereditary hyperekplexia", "hereditary hyperexplexia"], "xref": ["DOID:0060695", "GARD:0003129", "MEDGEN:904633", "OMIMPS:149400", "Orphanet:3197", "SCTID:724351008", "UMLS:C4084968", "icd11.foundation:988250063"]}
{"category": ["biolink:Disease"], "description": "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.", "id": "MONDO:0021023", "name": "Complete androgen insensitivity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CAIS", "complete androgen resistance syndrome"], "xref": ["DOID:0080775", "GARD:0010597", "ICD10CM:E34.51", "MEDGEN:183188", "NCIT:C120191", "Orphanet:99429", "SCTID:368851000119102", "UMLS:C0936016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021025", "name": "Cirrhosis, familial, with antigenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025276", "MEDGEN:1875236", "OMIM:118900", "UMLS:C5975708"]}
{"category": ["biolink:Disease"], "description": "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.", "id": "MONDO:0021026", "name": "Hereditary epidermal appendage anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic epidermal appendage anomaly"], "xref": ["GARD:0020265", "MEDGEN:1843118", "Orphanet:183447", "UMLS:C5680583"]}
{"category": ["biolink:Disease"], "description": "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.", "id": "MONDO:0021029", "name": "Hereditary sebaceous gland anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic sebaceous gland anomaly"], "xref": ["GARD:0020268", "MEDGEN:1843175", "Orphanet:183460", "UMLS:C5680577"]}
{"category": ["biolink:Disease"], "description": "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.", "id": "MONDO:0021032", "name": "Herpes zoster with dermatitis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["herpes zoster dermatitis of eyelid", "herpes zoster dermatitis of eyelids", "herpes zoster with dermatitis of eyelid"], "xref": ["ICD9:053.20", "MEDGEN:42438", "NCIT:C34696", "SCTID:186525007", "UMLS:C0019362"]}
{"category": ["biolink:Disease"], "description": "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.", "id": "MONDO:0021033", "name": "Herpes zoster dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["herpes zoster dermatitis"], "xref": ["MEDGEN:208894", "NCIT:C35619", "UMLS:C0854330"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021035", "name": "Alopecia-intellectual disability syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["APMR1", "alopecia-intellectual disability syndrome 1", "alopecia-mental retardation syndrome 1"], "xref": ["DOID:0080628", "GARD:0025277", "MEDGEN:349263", "OMIM:203650", "UMLS:C1859878"]}
{"category": ["biolink:Disease"], "description": "A form of dry skin characterized by hair follicles plugged by scale.", "id": "MONDO:0021036", "name": "Keratosis pilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["KP"], "xref": ["MEDGEN:82664", "NCIT:C124070", "SCTID:5132005", "UMLS:C0263383", "icd11.foundation:1614890502"]}
{"category": ["biolink:Disease"], "description": "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.", "id": "MONDO:0021038", "name": "Ewing sarcoma/peripheral primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["EFTs", "Ewing family of tumors", "Ewing family of tumours", "Ewing sarcoma family of tumors", "Ewing sarcoma family of tumours", "Ewing sarcoma/peripheral PNET", "Ewing sarcoma/peripheral primitive neuroectodermal tumor", "Ewing's family of tumors", "Ewing's family of tumours", "Ewing's sarcoma/peripheral primitive neuroectodermal tumor", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour", "tumors of Ewing's family", "tumors of the Ewing's family", "tumours of Ewing's family", "tumours of the Ewing's family"], "xref": ["MEDGEN:760735", "NCIT:C27291", "UMLS:C3536893"]}
{"category": ["biolink:Disease"], "description": "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.", "id": "MONDO:0021039", "name": "Extraskeletal ewing sarcoma/peripheral primitive neuroectodermal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor", "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumour", "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor", "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour", "extraosseous Ewings sarcoma-primitive neuroepithelial tumor", "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor"], "xref": ["DOID:4985", "EFO:1000250", "MEDGEN:232170", "NCIT:C27293", "UMLS:C1333514"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the pancreas.", "id": "MONDO:0021040", "name": "Pancreatic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pancreas", "neoplasm of the pancreas", "pancreas neoplasm", "pancreas neoplasm (disease)", "pancreas tumor", "pancreas tumour", "pancreatic neoplasm", "pancreatic tumor", "pancreatic tumour", "tumor of pancreas", "tumor of the pancreas", "tumour of pancreas", "tumour of the pancreas"], "xref": ["EFO:0003860", "MEDGEN:18279", "MESH:D010190", "NCIT:C3305", "ONCOTREE:PANCREAS", "SCTID:126859007", "UMLS:C0030297"]}
{"category": ["biolink:Disease"], "description": "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.", "id": "MONDO:0021041", "name": "Pleural solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["fibroma of pleura", "fibroma of the pleura", "localised fibrous mesothelioma of pleura", "localised fibrous mesothelioma of the pleura", "localized fibrous mesothelioma of pleura", "localized fibrous mesothelioma of the pleura", "pleura solitary fibrous tumor", "pleura solitary fibrous tumour", "pleural Submesothelial fibroma", "pleural cavity solitary fibrous tumor", "pleural cavity solitary fibrous tumour", "pleural fibroma", "pleural solitary fibrous tumor", "solitary fibrous tumor of pleura", "solitary fibrous tumor of the pleura", "solitary fibrous tumour of pleura", "solitary fibrous tumour of the pleura"], "xref": ["GARD:0025278", "NCIT:C4457", "SCTID:254646001"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.", "id": "MONDO:0021042", "name": "Glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["glial neoplasm", "glial tumor", "glial tumour", "glioma", "neoplasm of neuroglia", "neoplasm of the neuroglia", "neuroglial neoplasm", "neuroglial tumor", "neuroglial tumour", "tumor of neuroglia", "tumor of the neuroglia", "tumour of neuroglia", "tumour of the neuroglia"], "xref": ["EFO:0005543", "GARD:0006513", "MEDGEN:9030", "MESH:D005910", "NCIT:C3059", "Orphanet:182067", "SCTID:393564001", "UMLS:C0017638"]}
{"category": ["biolink:Disease"], "description": "A neoplasm composed of at least two distinct cellular populations.", "id": "MONDO:0021043", "name": "Mixed neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mixed neoplasm", "mixed tumor", "mixed tumour"], "xref": ["ICDO:8940/1", "MEDGEN:234575", "MESH:D018193", "NCIT:C6930", "UMLS:C1368354"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.", "id": "MONDO:0021045", "name": "Fibroepithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroepithelial neoplasm", "fibroepithelial tumor", "fibroepithelial tumour"], "xref": ["EFO:0007271", "MEDGEN:104908", "MESH:D018225", "NCIT:C3743", "UMLS:C0206649"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.", "id": "MONDO:0021046", "name": "Breast fibroepithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast fibroepithelial neoplasm", "breast fibroepithelial tumor", "breast fibroepithelial tumour"], "xref": ["MEDGEN:267408", "NCIT:C40405", "ONCOTREE:BFN", "UMLS:C1511309"]}
{"category": ["biolink:Disease"], "description": "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.", "id": "MONDO:0021047", "name": "Breast phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["breast cystosarcoma phyllodes", "breast phyllodes neoplasm", "breast phyllodes tumor", "cystosarcoma phyllodes of breast", "cystosarcoma phyllodes of the breast", "cystosarcoma phylloides - breast", "cystosarcoma phylloides of the breast", "phyllodes breast neoplasm", "phyllodes breast tumor", "phyllodes breast tumour", "phyllodes neoplasm of breast", "phyllodes neoplasm of the breast", "phyllodes tumor of breast", "phyllodes tumor of the breast", "phyllodes tumour of breast", "phyllodes tumour of the breast"], "xref": ["GARD:0025279", "MEDGEN:65943", "NCIT:C7575", "ONCOTREE:PT", "SCTID:712989008", "UMLS:C0238031"]}
{"category": ["biolink:Disease"], "description": "A localized mast cell neoplasm without metastatic potential.", "id": "MONDO:0021048", "name": "Benign mastocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["MAST cell tumor, benign", "mastocytoma, benign"], "xref": ["DOID:4658", "GARD:0025280", "MEDGEN:384518", "NCIT:C3217", "UMLS:C2242987"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.", "id": "MONDO:0021049", "name": "Vulvar neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mammalian vulva neoplasm", "mammalian vulva neoplasm (disease)", "mammalian vulva tumor", "mammalian vulva tumour", "neoplasm of mammalian vulva", "neoplasm of the vulva", "neoplasm of vulva", "tumor of mammalian vulva", "tumor of the vulva", "tumor of vulva", "tumour of mammalian vulva", "tumour of the vulva", "tumour of vulva", "vulva neoplasm", "vulva tumor", "vulva tumour", "vulval neoplasm", "vulvar neoplasm", "vulvar tumor", "vulvar tumour"], "xref": ["ICD9:239.5", "MEDGEN:22689", "NCIT:C3443", "SCTID:126922007", "UMLS:C0042995"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.", "id": "MONDO:0021050", "name": "Vaginal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the vagina", "neoplasm of vagina", "tumor of the vagina", "tumor of vagina", "tumour of the vagina", "tumour of vagina", "vagina neoplasm", "vagina neoplasm (disease)", "vagina tumor", "vagina tumour", "vaginal neoplasm", "vaginal tumor", "vaginal tumour"], "xref": ["EFO:1001447", "ICD9:239.5", "MEDGEN:22608", "NCIT:C3437", "ONCOTREE:VULVA", "SCTID:126921000", "UMLS:C0042258"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.", "id": "MONDO:0021052", "name": "Parasympathetic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["paraganglioma of parasympathetic nervous system", "parasympathetic Extra-adrenal paraganglioma", "parasympathetic Paraganglionic neoplasm", "parasympathetic nervous system paraganglioma", "parasympathetic paraganglioma"], "xref": ["GARD:0025281", "ICDO:8682/1", "MEDGEN:90779", "NCIT:C4217", "UMLS:C0334416"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.", "id": "MONDO:0021053", "name": "Carotid body paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["carotid body paraganglioma", "paraganglioma of carotid body"], "xref": ["GARD:0010598", "ICDO:8692/1", "MEDGEN:2853", "MESH:D002345", "NCIT:C2932", "UMLS:C0007279"]}
{"category": ["biolink:Disease"], "description": "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.", "id": "MONDO:0021054", "name": "Bone sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["bone sarcoma", "osseous sarcoma", "sarcoma of bone", "sarcoma of the bone", "skeletal sarcoma"], "xref": ["DOID:0080639", "GARD:0020547", "ICD9:170.9", "MEDGEN:352831", "MedDRA:10006007", "NCIT:C9312", "Orphanet:223727", "SCTID:448710000", "UMLS:C1704327"]}
{"category": ["biolink:Disease"], "description": "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.", "id": "MONDO:0021055", "name": "Classic familial adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAP", "Familial Adenomatous Polyposis", "adenomatous polyposis coli", "classic FAP", "classic familial adenomatous polyposis", "colorectal adenomatous polyposis", "familial adenomatous polyposis", "familial adenomatous polyposis coli", "familial adenomatous polyposis syndrome", "familial polyposis", "familial polyposis coli", "hereditary adenomatous polyposis coli", "polyposis coli"], "xref": ["DECIPHER:49", "DOID:0050424", "GARD:0006408", "ICDO:8220/0", "MEDGEN:46010", "MedDRA:10056981", "NANDO:2200915", "NCIT:C3339", "NORD:1121", "OMIMPS:175100", "Orphanet:733", "SCTID:72900001", "UMLS:C0032580"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP).", "id": "MONDO:0021056", "name": "Familial adenomatous polyposis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["APC-related adenomatous polyposis", "FAP1", "adenoma, periampullary, somatic", "familial adenomatous polyposis 1"], "xref": ["DOID:0080409", "GARD:0025282", "MEDGEN:398651", "OMIM:175100", "UMLS:C2713442"]}
{"category": ["biolink:Disease"], "description": "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.", "id": "MONDO:0021057", "name": "Classic or attenuated familial adenomatous polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["classic or attenuated FAP", "classic or attenuated familial adenomatous polyposis"], "xref": ["GARD:0025283"]}
{"category": ["biolink:Disease"], "description": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.", "id": "MONDO:0021058", "name": "Neoplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer-related syndrome", "neoplastic syndrome", "tumor syndrome", "tumour syndrome"], "xref": ["MEDGEN:362147", "NCIT:C54705", "UMLS:C1882062"]}
{"category": ["biolink:Disease"], "description": "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "id": "MONDO:0021060", "name": "Rasopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["RASopathy", "Ras protein signal transduction disease", "disorder of Ras protein signal transduction"], "xref": ["DOID:0080690", "EFO:1001502", "GARD:0022213", "MEDGEN:1792298", "NCIT:C179667", "Orphanet:536391", "UMLS:C5555857"]}
{"category": ["biolink:Disease"], "description": "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.", "id": "MONDO:0021061", "name": "Neurofibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["neurofibromatosis", "neurofibromatosis syndrome"], "xref": ["DOID:8712", "EFO:0008514", "GARD:0010420", "ICD10CM:Q85.0", "ICD9:237.7", "ICD9:237.70", "ICDO:9540/1", "MEDGEN:58149", "MESH:D017253", "NANDO:1200225", "NANDO:1200226", "NANDO:1200227", "NANDO:2201003", "NCIT:C6727", "SCTID:19133005", "UMLS:C0162678"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0021063", "name": "Malignant colon neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of colon", "colon cancer", "colon neoplasm, malignant", "colon tumor, malignant", "malignant colon neoplasm", "malignant colon tumor", "malignant colon tumour", "malignant colonic neoplasm", "malignant colonic tumor", "malignant colonic tumour", "malignant neoplasm of colon", "malignant neoplasm of the colon", "malignant tumor of colon", "malignant tumor of the colon", "malignant tumour of colon", "malignant tumour of the colon"], "xref": ["DOID:219", "ICD10CM:C18", "ICD9:153", "ICD9:153.8", "ICD9:153.9", "MEDGEN:2839", "NCIT:C9242", "SCTID:363406005", "UMLS:C0007102", "icd11.foundation:1265576634"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.", "id": "MONDO:0021064", "name": "Jugulotympanic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["basicranium parasympathetic paraganglioma", "glomus jugulare neoplasm", "glomus jugulare tumor", "glomus jugulare tumour", "jugular body neoplasm", "jugular body neoplasm (disease)", "jugular body tumor", "jugular body tumour", "jugular paraganglioma", "jugulotympanic paraganglioma", "neoplasm of glomus jugulare", "neoplasm of jugular body", "neoplasm of the glomus jugulare", "parasympathetic paraganglioma of basicranium", "tumor of glomus jugulare", "tumor of jugular body", "tumor of the glomus jugulare", "tumour of glomus jugulare", "tumour of jugular body", "tumour of the glomus jugulare"], "xref": ["GARD:0025284", "ICD9:239.7", "ICDO:8690/1", "MEDGEN:4905", "NCIT:C3061", "SCTID:127030001", "UMLS:C0017671"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.", "id": "MONDO:0021065", "name": "Pleural neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pleura", "neoplasm of pleural cavity", "neoplasm of the pleura", "pleura neoplasm", "pleura neoplasm (disease)", "pleura tumor", "pleura tumour", "pleural cavity neoplasm (disease)", "pleural cavity tumor", "pleural cavity tumour", "pleural neoplasm", "pleural tumor", "pleural tumour", "tumor of pleura", "tumor of the pleura", "tumour of pleura", "tumour of the pleura"], "xref": ["MEDGEN:18523", "MESH:D010997", "NCIT:C3332", "ONCOTREE:PLEURA", "SCTID:126719004", "UMLS:C0032229"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003", "id": "MONDO:0021066", "name": "Urinary system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of renal system", "neoplasm of the urinary system", "neoplasm of the urinary tract", "neoplasm of urinary system", "neoplasm of urinary tract", "renal system neoplasm", "renal system neoplasm (disease)", "renal system tumor", "renal system tumour", "tumor of renal system", "tumor of the urinary system", "tumor of the urinary tract", "tumor of urinary system", "tumor of urinary tract", "tumour of renal system", "tumour of the urinary system", "tumour of the urinary tract", "tumour of urinary system", "tumour of urinary tract", "urinary system neoplasm", "urinary system tumor", "urinary system tumour", "urinary tract neoplasm", "urinary tract tumor", "urinary tract tumour"], "xref": ["ICD9:239.5", "MEDGEN:52949", "NCIT:C192666", "NCIT:C3431", "ONCOTREE:BLADDER", "SCTID:126879004", "UMLS:C0042076"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.", "id": "MONDO:0021067", "name": "Mediastinal germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["germ cell neoplasm of mediastinum", "germ cell neoplasm of the mediastinum", "germ cell tumor of mediastinum", "germ cell tumor of the mediastinum", "germ cell tumour of mediastinum", "germ cell tumour of the mediastinum", "mediastinal germ cell neoplasm", "mediastinal germ cell tumor", "mediastinum germ cell tumor", "mediastinum germ cell tumour", "thymic germ cell tumor", "thymic germ cell tumour"], "xref": ["GARD:0025285", "MEDGEN:233678", "NCIT:C6437", "UMLS:C1334655"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant neoplasm involving the ovary.", "id": "MONDO:0021068", "name": "Ovarian neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of ovary", "neoplasm of the ovary", "ovarian neoplasm", "ovarian tumor", "ovarian tumors", "ovarian tumour", "ovarian tumours", "ovary neoplasm", "ovary neoplasm (disease)", "ovary tumor", "ovary tumour", "tumor of ovary", "tumor of the ovary", "tumour of ovary", "tumour of the ovary"], "xref": ["EFO:0003893", "ICD9:239.5", "MEDGEN:181539", "NCIT:C4984", "SCTID:123843001", "UMLS:C0919267"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.", "id": "MONDO:0021069", "name": "Malignant endocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of endocrine gland", "endocrine cancer", "endocrine gland cancer", "endocrine neoplasm, malignant", "malignant endocrine gland neoplasm", "malignant endocrine gland tumor", "malignant endocrine gland tumour", "malignant endocrine neoplasm", "malignant endocrine tumor", "malignant endocrine tumour", "malignant neoplasm of endocrine gland", "malignant neoplasm of the endocrine gland", "malignant tumor of endocrine gland", "malignant tumor of the endocrine gland", "malignant tumour of the endocrine gland"], "xref": ["DOID:170", "ICD9:194.9", "MEDGEN:56319", "MESH:D004701", "NCIT:C3575", "UMLS:C0153658"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.", "id": "MONDO:0021070", "name": "Sublingual gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of sublingual gland", "carcinoma of the sublingual gland", "sublingual gland carcinoma"], "xref": ["GARD:0027877", "MEDGEN:83385", "NCIT:C8397", "SCTID:254466003", "UMLS:C0345611"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the larynx.", "id": "MONDO:0021071", "name": "Laryngeal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["laryngeal neoplasm", "laryngeal tumor", "laryngeal tumour", "larynx neoplasm", "larynx neoplasm (disease)", "larynx tumor", "larynx tumour", "neoplasm of larynx", "neoplasm of the larynx", "tumor of larynx", "tumor of the larynx", "tumour of larynx", "tumour of the larynx"], "xref": ["EFO:0003817", "MEDGEN:7271", "MESH:D007822", "NCIT:C3156", "SCTID:126692004", "UMLS:C0023055"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.", "id": "MONDO:0021072", "name": "Sympathetic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Chromaffinoma", "chromaffin neoplasm", "chromaffin tumor", "chromaffin tumour", "paraganglioma of sympathetic nervous system", "sympathetic Paraganglionic neoplasm", "sympathetic nervous system paraganglioma", "sympathetic paraganglioma"], "xref": ["GARD:0025286", "ICDO:8681/1", "MEDGEN:137758", "MESH:C531777", "NCIT:C4216", "SCTID:399343007", "UMLS:C0334415"]}
{"category": ["biolink:Disease"], "description": "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.", "id": "MONDO:0021073", "name": "Paraneoplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paraneoplastic syndrome"], "xref": ["MEDGEN:45320", "MESH:D010257", "NCIT:C3311", "SCTID:49783001", "UMLS:C0030472"]}
{"category": ["biolink:Disease"], "description": "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.", "id": "MONDO:0021074", "name": "Precancerous condition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["precancerous condition", "precancerous state", "premalignant condition", "premalignant state"], "xref": ["MEDGEN:19442", "MESH:D011230", "NCIT:C3341", "UMLS:C0032927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021075", "name": "Neoplastic polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplastic polyp"], "xref": ["MEDGEN:233751", "NCIT:C7068", "UMLS:C1334941"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.", "id": "MONDO:0021076", "name": "Pancreatic exocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exocrine pancreas neoplasm", "exocrine pancreas neoplasm (disease)", "exocrine pancreas tumor", "exocrine pancreas tumour", "neoplasm of exocrine pancreas", "neoplasm of the exocrine pancreas", "pancreatic exocrine neoplasm", "pancreatic exocrine tumor", "pancreatic exocrine tumour", "tumor of exocrine pancreas", "tumor of the exocrine pancreas", "tumour of exocrine pancreas", "tumour of the exocrine pancreas"], "xref": ["ICD9:235.5", "MEDGEN:138030", "NCIT:C4445", "SCTID:254604005", "UMLS:C0345920"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.", "id": "MONDO:0021077", "name": "Cystic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystic neoplasm", "cystic tumor", "cystic tumour"], "xref": ["MEDGEN:232404", "NCIT:C6784", "UMLS:C1333190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021078", "name": "Glandular papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glandular papilloma"], "xref": ["MEDGEN:482986", "NCIT:C6880", "UMLS:C3282896"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising during childhood.", "id": "MONDO:0021079", "name": "Childhood neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["childhood neoplasm", "childhood neoplasm (disease)", "childhood tumor", "childhood tumour", "neoplasm (disease) of childhood", "paediatric neoplasm", "paediatric neoplasm (disease)", "paediatric tumour", "pediatric neoplasm", "pediatric neoplasm (disease)", "pediatric tumor"], "xref": ["MEDGEN:237153", "NCIT:C6283", "UMLS:C1368871"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from arteries or veins.", "id": "MONDO:0021080", "name": "Blood vessel neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["blood vessel neoplasm", "blood vessel neoplasm (disease)", "blood vessel tumor", "blood vessel tumour", "neoplasm of blood vessel", "tumor of blood vessel", "tumour of blood vessel"], "xref": ["MEDGEN:1651181", "NCIT:C7387", "SCTID:126736007", "UMLS:C4722524"]}
{"category": ["biolink:Disease"], "description": "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.", "id": "MONDO:0021081", "name": "Anti-nmda receptor encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["anti-NMDA receptor encephalitis", "limbic encephalitis with N-methyl-D-aspartate receptor antibodies", "limbic encephalitis with NMDA receptor antibodies"], "xref": ["GARD:0020513", "MEDGEN:458943", "MESH:D060426", "NANDO:2201317", "NCIT:C94853", "Orphanet:217253", "SCTID:716684004", "UMLS:C2986717", "icd11.foundation:1568915618"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a Meckel's diverticulum.", "id": "MONDO:0021082", "name": "Meckel diverticulum neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Meckel's diverticulum neoplasm", "Meckel's diverticulum neoplasm (disease)", "Meckel's diverticulum tumor", "Meckel's diverticulum tumour", "neoplasm of Meckel's diverticulum", "tumor of Meckel's diverticulum", "tumour of Meckel's diverticulum"], "xref": ["MEDGEN:577167", "SCTID:126836001", "UMLS:C0345839"]}
{"category": ["biolink:Disease"], "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.", "id": "MONDO:0021083", "name": "Congenital fibrosis of extraocular muscles type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CFEOM1", "KIF21A congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in KIF21A", "fibrosis of extraocular muscles, congenital, 1"], "xref": ["DOID:0081015", "GARD:0025287", "MEDGEN:376943", "OMIM:135700", "UMLS:C1851102"]}
{"category": ["biolink:Disease"], "description": "Any impairment to the vision.", "id": "MONDO:0021084", "name": "Vision disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of vision", "vision disorder", "visual disorder"], "xref": ["MEDGEN:12103", "MESH:D014786", "MedDRA:10047518", "NCIT:C35126", "SCTID:95677002", "UMLS:C0042790"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the stomach.", "id": "MONDO:0021085", "name": "Gastric neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gastric neoplasm", "gastric tumor", "gastric tumour", "neoplasm of stomach", "neoplasm of the stomach", "stomach neoplasm", "stomach neoplasm (disease)", "stomach tumor", "stomach tumour", "tumor of stomach", "tumor of the stomach", "tumour of stomach", "tumour of the stomach"], "xref": ["EFO:0003897", "MEDGEN:20958", "MESH:D013274", "NCIT:C3387", "SCTID:126824007", "UMLS:C0038356"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the upper or lower gingiva.", "id": "MONDO:0021086", "name": "Gingival neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gingiva neoplasm", "gingiva neoplasm (disease)", "gingiva tumor", "gingiva tumour", "gingival neoplasm", "gingival tumor", "gingival tumour", "gum neoplasm", "gum tumor", "gum tumour", "neoplasm of gingiva", "neoplasm of gum", "neoplasm of the gingiva", "neoplasm of the gum", "tumor of gingiva", "tumor of gum", "tumor of the gingiva", "tumor of the gum", "tumour of gingiva", "tumour of gum", "tumour of the gingiva", "tumour of the gum"], "xref": ["MEDGEN:6605", "NCIT:C3057", "SCTID:126792007", "UMLS:C0017570"]}
{"category": ["biolink:Disease"], "description": "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.", "id": "MONDO:0021088", "name": "Papillary meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["papillary meningioma"], "xref": ["GARD:0025288", "ICDO:9538/3", "MEDGEN:463642", "NCIT:C3904", "ONCOTREE:PPM", "UMLS:C3163622"]}
{"category": ["biolink:Disease"], "description": "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location", "id": "MONDO:0021089", "name": "Peripheral nervous system cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of peripheral nervous system", "malignant PNS neoplasm", "malignant PNS tumor", "malignant PNS tumour", "malignant neoplasm of PNS", "malignant neoplasm of peripheral nerve", "malignant neoplasm of peripheral nervous system", "malignant neoplasm of the PNS", "malignant neoplasm of the peripheral nerve", "malignant neoplasm of the peripheral nervous system", "malignant neoplasms, peripheral nerve", "malignant peripheral nerve neoplasm", "malignant peripheral nerve tumor", "malignant peripheral nerve tumour", "malignant peripheral nervous system neoplasm", "malignant peripheral nervous system tumor", "malignant peripheral nervous system tumour", "malignant tumor of PNS", "malignant tumor of peripheral nerve", "malignant tumor of peripheral nervous system", "malignant tumor of the PNS", "malignant tumor of the peripheral nerve", "malignant tumor of the peripheral nervous system", "malignant tumour of PNS", "malignant tumour of peripheral nerve", "malignant tumour of peripheral nervous system", "malignant tumour of the PNS", "malignant tumour of the peripheral nerve", "malignant tumour of the peripheral nervous system", "peripheral nervous system cancer", "peripheral nervous system neoplasms, malignant"], "xref": ["ICD9:171.9", "MEDGEN:155556", "NCIT:C4961", "SCTID:254986007", "UMLS:C0751428"]}
{"category": ["biolink:Disease"], "description": "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.", "id": "MONDO:0021090", "name": "Lipid-rich breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast lipid-rich carcinoma", "lipid-rich breast carcinoma"], "xref": ["DOID:7076", "MEDGEN:274685", "NCIT:C40365", "UMLS:C1517894"]}
{"category": ["biolink:Disease"], "description": "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.", "id": "MONDO:0021091", "name": "Papillary cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cystadenoma, papillary, benign", "papillary cystadenoma"], "xref": ["ICDO:8450/0", "MEDGEN:41386", "MESH:D018292", "NCIT:C2974", "UMLS:C0010636"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.", "id": "MONDO:0021092", "name": "Fallopian tube neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fallopian tube neoplasm", "fallopian tube neoplasm (disease)", "fallopian tube tumor", "fallopian tube tumour", "neoplasm of fallopian tube", "neoplasm of the fallopian tube", "tumor of fallopian tube", "tumor of the fallopian tube", "tumour of fallopian tube", "tumour of the fallopian tube"], "xref": ["ICD9:239.5", "MEDGEN:8775", "MESH:D005185", "NCIT:C3032", "SCTID:126916003", "UMLS:C0015558"]}
{"category": ["biolink:Disease"], "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.", "id": "MONDO:0021093", "name": "Cranioectodermal dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CED1", "IFT122 cranioectodermal dysplasia", "cranioectodermal dysplasia 1", "cranioectodermal dysplasia caused by mutation in IFT122", "cranioectodermal dysplasia type 1"], "xref": ["DOID:0080803", "GARD:0025289", "MEDGEN:96586", "OMIM:218330", "UMLS:C0432235"]}
{"category": ["biolink:Disease"], "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.", "id": "MONDO:0021094", "name": "Immunodeficiency disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["immuno-deficiency", "immunodeficiency", "immunodeficiency disorder"], "xref": ["ICD9:279.3", "MEDGEN:7034", "NANDO:2100204", "NCIT:C3131", "OMIMPS:300755", "SCTID:234532001", "UMLS:C0021051"]}
{"category": ["biolink:Disease"], "description": "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.", "id": "MONDO:0021095", "name": "Parkinsonian disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0080855", "MEDGEN:66079", "MESH:D020734", "UMLS:C0242422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021096", "name": "Papillary epithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["papillary epithelial neoplasm"], "xref": ["MEDGEN:235456", "NCIT:C8429", "UMLS:C1335324"]}
{"category": ["biolink:Disease"], "description": "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.", "id": "MONDO:0021097", "name": "Intraductal breast papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["breast papilloma", "duct papilloma of breast", "duct papilloma of the breast", "ductal breast papilloma", "intraductal breast papilloma", "intraductal papilloma of breast", "intraductal papilloma of the breast", "mammary duct papilloma", "papilloma of breast", "papilloma of the breast"], "xref": ["DOID:1626", "MEDGEN:65944", "NCIT:C3863", "SCTID:254848002", "SCTID:99571000119102", "UMLS:C0238034"]}
{"category": ["biolink:Disease"], "description": "Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.", "id": "MONDO:0021098", "name": "Papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papillomatosis"], "xref": ["MEDGEN:64459", "NCIT:C3713", "UMLS:C0205875"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process characterized by the presence of multiple intraductal papillomas.", "id": "MONDO:0021099", "name": "Intraductal papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["duct papillomatosis", "intraductal papillomatosis"], "xref": ["ICDO:8505/0", "MEDGEN:90774", "NCIT:C7363", "UMLS:C0334377"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.", "id": "MONDO:0021100", "name": "Breast neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["breast neoplasm", "breast neoplasm (disease)", "breast tumor", "breast tumour", "neoplasm of breast", "neoplasm of the breast", "neoplasm, breast", "tumor of breast", "tumor of the breast", "tumour of breast", "tumour of the breast"], "xref": ["EFO:0003869", "ICD9:239.3", "MEDGEN:264172", "MESH:D001943", "NCIT:C2910", "ONCOTREE:BREAST", "SCTID:126926005", "UMLS:C1458155"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.", "id": "MONDO:0021101", "name": "Appendix l-cell glucagon-like peptide-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix", "L-cell glucagon-like peptide-producing neuroendocrine tumour of vermiform appendix", "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor", "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor", "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumour"], "xref": ["DOID:8151", "GARD:0025290", "MEDGEN:475771", "NCIT:C27445", "UMLS:C3274138"]}
{"category": ["biolink:Disease"], "description": "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.", "id": "MONDO:0021102", "name": "Prostate phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cystosarcoma phyllodes of prostate", "cystosarcoma phyllodes of the prostate", "phyllodes neoplasm of prostate", "phyllodes neoplasm of the prostate", "phyllodes tumor of prostate", "phyllodes tumor of the prostate", "phyllodes tumour of prostate", "phyllodes tumour of the prostate", "prostate cystosarcoma phyllodes", "prostate gland phyllodes tumor", "prostate gland phyllodes tumour", "prostate phyllodes neoplasm", "prostate phyllodes tumor"], "xref": ["GARD:0009404", "MEDGEN:233326", "NCIT:C7574", "Orphanet:498228", "UMLS:C1335409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021103", "medic_stub": true, "name": "obsolete collagen diseases", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.", "id": "MONDO:0021104", "name": "Alcoholic fatty liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alcoholic Steatohepatitis", "alcoholic fatty liver"], "xref": ["ICD10CM:K70.0", "ICD9:571.0", "MEDGEN:4666", "MESH:D005235", "SCTID:50325005", "UMLS:C0015696", "icd11.foundation:1759668616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021105", "name": "Nafld1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition"], "synonym": ["NAFLD1", "fatty liver disease, nonalcoholic, susceptibility to, 1", "liver disease, alcoholic, susceptibility to, 1"], "xref": ["MEDGEN:413307", "OMIM:613282", "UMLS:C2750440"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.", "id": "MONDO:0021106", "name": "Laminopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019444", "MEDGEN:1716073", "MESH:D000083083", "Orphanet:98301", "UMLS:C5392094"]}
{"category": ["biolink:Disease"], "description": "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.", "id": "MONDO:0021107", "name": "Narcolepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["narcolepsy with or without cataplexy", "paroxysmal sleep"], "xref": ["DOID:8986", "GARD:0022460", "ICD10CM:G47.41", "MEDGEN:45001", "MESH:D009290", "NCIT:C84489", "Orphanet:619284", "SCTID:60380001", "UMLS:C0027404", "icd11.foundation:1201727099"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.", "id": "MONDO:0021108", "name": "Meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of meninx", "meningitis", "meningitis (disease)", "meninx inflammation"], "xref": ["ICD9:322.9", "MEDGEN:6298", "MESH:D008581", "NCIT:C26828", "SCTID:7180009", "UMLS:C0025289"]}
{"category": ["biolink:Disease"], "description": "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.", "id": "MONDO:0021109", "name": "Inverted urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inverted papilloma of urinary tract", "inverted urothelial papilloma", "urinary tract inverted papilloma", "urothelium inverted papilloma"], "xref": ["MEDGEN:233583", "NCIT:C6192", "ONCOTREE:IUP", "UMLS:C1334282"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.", "id": "MONDO:0021110", "name": "Sweat gland adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of sweat gland", "adenoma of the sweat gland", "adenoma, sweat gland, benign", "sweat gland adenoma"], "xref": ["ICDO:8400/0", "MEDGEN:5551", "NCIT:C7560", "UMLS:C0019522"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the ureter.", "id": "MONDO:0021111", "name": "Ureter neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the ureter", "neoplasm of ureter", "neoplasms of the ureter", "neoplasms of ureter", "tumor of the ureter", "tumor of ureter", "tumour of the ureter", "tumour of ureter", "ureter neoplasm", "ureter neoplasm (disease)", "ureter tumor", "ureter tumour", "ureteral neoplasm", "ureteral tumor", "ureteral tumour"], "xref": ["EFO:0003844", "ICD9:239.5", "MEDGEN:12011", "NCIT:C3427", "SCTID:126882009", "UMLS:C0041955"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the scrotum.", "id": "MONDO:0021112", "name": "Scrotum cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of scrotum", "malignant neoplasm of scrotum", "malignant neoplasm of the scrotum", "malignant scrotal neoplasm", "malignant scrotal tumor", "malignant scrotal tumour", "malignant scrotum neoplasm", "malignant tumor of scrotum", "malignant tumor of the scrotum", "malignant tumour of scrotum", "malignant tumour of the scrotum", "scrotum cancer"], "xref": ["ICD10CM:C63.2", "ICD9:187.7", "MEDGEN:57564", "NCIT:C3560", "SCTID:363454002", "UMLS:C0153604"]}
{"category": ["biolink:Disease"], "description": "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.", "id": "MONDO:0021113", "name": "Respiratory failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["failure, respiratory", "respiratory failure"], "xref": ["DOID:11162", "EFO:0009686", "ICD9:518.83", "MEDGEN:257837", "MESH:D012131", "NCIT:C26872", "SCTID:39871006", "UMLS:C1145670", "icd11.foundation:370028006"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.", "id": "MONDO:0021114", "name": "Bartholin gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bartholin gland neoplasm", "Bartholin's gland neoplasm", "Bartholin's gland tumor", "Bartholin's gland tumour", "major vestibular gland neoplasm", "major vestibular gland neoplasm (disease)", "major vestibular gland tumor", "major vestibular gland tumour", "neoplasm of Bartholin's gland", "neoplasm of major vestibular gland", "neoplasm of the Bartholin's gland", "tumor of Bartholin's gland", "tumor of major vestibular gland", "tumor of the Bartholin's gland", "tumour of Bartholin's gland", "tumour of major vestibular gland", "tumour of the Bartholin's gland"], "xref": ["MEDGEN:65074", "NCIT:C6434", "UMLS:C0220616"]}
{"category": ["biolink:Disease"], "description": "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.", "id": "MONDO:0021115", "name": "Luminal b breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Luminal B", "Luminal B breast cancer", "Luminal B breast carcinoma", "Luminal B estrogen receptor positive subtype of breast carcinoma", "Luminal B oestrogen receptor positive subtype of breast carcinoma", "Luminal B subtype of breast carcinoma"], "xref": ["DOID:0080674", "MEDGEN:770986", "NCIT:C53555", "UMLS:C3642346"]}
{"category": ["biolink:Disease"], "description": "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.", "id": "MONDO:0021116", "name": "Luminal a breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Luminal A", "Luminal A breast cancer", "Luminal A breast carcinoma", "Luminal A estrogen receptor positive subtype of breast carcinoma", "Luminal A oestrogen receptor positive subtype of breast carcinoma", "Luminal A subtype of breast carcinoma"], "xref": ["MEDGEN:770985", "NCIT:C53554", "UMLS:C3642345"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.", "id": "MONDO:0021117", "name": "Lung neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lung neoplasm", "lung neoplasm (disease)", "lung neoplasms", "lung tumor", "lung tumour", "neoplasm of lung", "neoplasm of the lung", "tumor of lung", "tumor of the lung", "tumour of lung", "tumour of the lung"], "xref": ["MEDGEN:7400", "MESH:D008175", "NCIT:C3200", "ONCOTREE:LUNG", "UMLS:C0024121"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm involving the small or large intestine.", "id": "MONDO:0021118", "name": "Intestinal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestinal neoplasm", "intestinal neoplasms", "intestinal tumor", "intestinal tumors", "intestinal tumour", "intestinal tumours", "intestine neoplasm", "intestine neoplasm (disease)", "intestine tumor", "intestine tumour", "neoplasm of intestine", "neoplasm of intestines", "neoplasm of the intestines", "tumor of intestine", "tumor of intestines", "tumor of the intestines", "tumour of intestine", "tumour of intestines", "tumour of the intestines"], "xref": ["DOID:4610", "MEDGEN:43932", "NCIT:C3141", "ONCOTREE:BOWEL", "SCTID:126769007", "UMLS:C0021841"]}
{"category": ["biolink:Disease"], "description": "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.", "id": "MONDO:0021119", "name": "Non-functioning endocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endocrine-inactive tumor", "endocrine-inactive tumour", "non-functioning endocrine neoplasm", "nonfunctional Endocrine neoplasm", "nonfunctioning tumor", "nonfunctioning tumour"], "xref": ["MEDGEN:458882", "NCIT:C94760", "UMLS:C2986656"]}
{"category": ["biolink:Disease"], "description": "A hormone producing endocrine neoplasm, associated with a hormonal syndrome.", "id": "MONDO:0021120", "name": "Functioning endocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["functioning endocrine neoplasm", "functioning tumor", "functioning tumour"], "xref": ["ICDO:8158/1", "MEDGEN:458881", "NCIT:C94759", "UMLS:C2986655"]}
{"category": ["biolink:Disease"], "description": "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.", "id": "MONDO:0021121", "name": "Hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["angioendothelioma", "hemangioendothelioma"], "xref": ["ICDO:9130/1", "MEDGEN:42384", "MESH:D006390", "NCIT:C3084", "SCTID:403980002", "UMLS:C0018915"]}
{"category": ["biolink:Disease"], "description": "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.", "id": "MONDO:0021123", "name": "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour"], "xref": ["GARD:0025291", "MEDGEN:272598", "NCIT:C35871", "UMLS:C1333481"]}
{"category": ["biolink:Disease"], "description": "Diminished or absent ability of a female to achieve conception.", "id": "MONDO:0021124", "name": "Female infertility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["female infertility", "female reproductive system infertility", "female reproductive system infertility disorder", "infertility disorder of female reproductive system"], "xref": ["EFO:0008560", "ICD10CM:N97", "ICD10WHO:N97", "ICD9:628.8", "ICD9:628.9", "MEDGEN:5795", "MESH:D007247", "SCTID:6738008", "UMLS:C0021361", "icd11.foundation:1237004558"]}
{"category": ["biolink:Disease"], "description": "Congenital or developmental anomaly in which the eyeballs are abnormally small.", "id": "MONDO:0021129", "name": "Microphthalmia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["microphthalmia"], "xref": ["DOID:10629", "EFO:0005569", "HP:0000568", "ICD9:743.1", "ICD9:743.10", "ICD9:743.11", "MEDGEN:10033", "MESH:D008850", "NCIT:C98989", "SCTID:204108000", "UMLS:C0026010"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.", "id": "MONDO:0021130", "name": "Disorder of sphingolipid biosynthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["inborn error of sphingolipid biosynthetic process", "inborn sphingolipid biosynthetic process disorder", "rare inborn error of sphingolipid biosynthetic process"]}
{"category": ["biolink:Disease"], "description": "An ependymal tumor affecting the frontal lobe of the brain.", "id": "MONDO:0021131", "name": "Frontal lobe ependymal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ependymal tumor of frontal lobe", "ependymal tumour of frontal lobe", "frontal lobe ependymal tumor"], "xref": ["GARD:0025292", "MEDGEN:1391114", "NCIT:C131573", "UMLS:C4330009"]}
{"category": ["biolink:Disease"], "description": "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.", "id": "MONDO:0021132", "name": "Tertiary hyperparathyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["tertiary hyperparathyroidism"], "xref": ["ICD9:588.89", "MEDGEN:488837", "NCIT:C114821", "SCTID:78200003", "UMLS:C0271858", "icd11.foundation:10683191"]}
{"category": ["biolink:Disease"], "description": "An acquired coagulation disorder due to reduced levels and activity of factor XIII.", "id": "MONDO:0021133", "name": "Acquired factor xiii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aFXIII", "acquired factor XIII deficiency"], "xref": ["GARD:0022412", "MEDGEN:1393253", "NANDO:1200897", "NCIT:C131629", "Orphanet:599513", "UMLS:C0238120", "icd11.foundation:939366157"]}
{"category": ["biolink:Disease"], "description": "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.", "id": "MONDO:0021134", "name": "Acquired factor x deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["aFX", "acquired factor X deficiency"], "xref": ["GARD:0022410", "ICD9:286.9", "MEDGEN:543977", "NANDO:1201048", "NCIT:C131626", "Orphanet:599501", "SCTID:33820001", "UMLS:C0272328"]}
{"category": ["biolink:Disease"], "description": "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003", "id": "MONDO:0021138", "name": "Bone marrow cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bone marrow cancer", "cancer of bone marrow", "malignant bone marrow neoplasm", "malignant bone marrow tumor", "malignant bone marrow tumour", "malignant neoplasm of bone marrow"], "xref": ["GARD:0025293", "MEDGEN:438070", "NCIT:C35501", "UMLS:C2703042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021140", "medic_stub": true, "name": "congenital", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.", "id": "MONDO:0021142", "name": "Acquired rippling muscle disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired rippling muscle disease", "sporadic rippling muscle disease"], "xref": ["GARD:0025294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021143", "name": "Melanocytic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["melanocytic neoplasm"], "xref": ["MEDGEN:224910", "MESH:D018326", "NCIT:C7058", "SCTID:399956005", "UMLS:C1302746"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.", "id": "MONDO:0021144", "name": "Ovarian clear cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ovarian clear cell neoplasm", "ovarian clear cell tumor"], "xref": ["MEDGEN:138040", "NCIT:C40076", "ONCOTREE:CCOV", "UMLS:C0346164"]}
{"category": ["biolink:Disease"], "description": "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)", "id": "MONDO:0021146", "name": "Headache disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["headache disorder"], "xref": ["EFO:0009550", "MEDGEN:140743", "MESH:D020773", "SCTID:230461009", "UMLS:C0393735"]}
{"category": ["biolink:Disease"], "description": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.", "id": "MONDO:0021147", "name": "Disorder of development or morphogenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "xref": ["ICD10CM:Q00-Q99", "MEDGEN:1843482", "UMLS:C0694457"]}
{"category": ["biolink:Disease"], "description": "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.", "id": "MONDO:0021148", "name": "Female reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["female reproductive organ neoplasm (disease)", "female reproductive organ tumor", "female reproductive organ tumour", "female reproductive system neoplasm", "female reproductive system neoplasm (disease)", "female reproductive system tumor", "female reproductive system tumour", "gynecologic neoplasm", "gynecologic tumor", "gynecologic tumour", "neoplasm of female reproductive organ", "neoplasm of female reproductive system", "neoplasm of the female reproductive system", "tumor of female reproductive system", "tumor of the female reproductive system", "tumour of female reproductive system", "tumour of the female reproductive system"], "xref": ["MEDGEN:9004", "MESH:D005833", "NCIT:C3053", "UMLS:C0017416"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the dermis.", "id": "MONDO:0021154", "name": "Dermis disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "synonym": ["dermis disease", "dermis disease or disorder", "disease of dermis", "disease or disorder of dermis", "disorder of dermis", "other dermis disorder"], "xref": ["MEDGEN:1843083", "Orphanet:79381", "UMLS:C5681483"]}
{"category": ["biolink:Disease"], "description": "X-linked form of cone-rod dystrophy.", "id": "MONDO:0021155", "name": "X-linked cone-rod dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cone-rod dystrophy, X-linked"], "xref": ["GARD:0025295"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the pituitary gland.", "id": "MONDO:0021156", "name": "Hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypophysis", "hypophysis cerebri", "hypophysitides", "nervous system, pituitary", "pituitary", "pituitary gland", "pituitary gland inflammation"], "xref": ["MEDGEN:575012", "MESH:D000072659", "NCIT:C12399", "SCTID:237705001", "UMLS:C0342409", "icd11.foundation:1589682285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021157", "name": "Gonococcal cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gonorrhea of cervix", "gonorrhea of uterine cervix", "gonorrhoea of cervix", "gonorrhoea of uterine cervix"], "xref": ["MEDGEN:678343", "SCTID:237083000", "UMLS:C0812378", "icd11.foundation:1706835456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021158", "name": "Gonococcal epididymo-orchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:574637", "SCTID:236772009", "UMLS:C0341782"]}
{"category": ["biolink:Disease"], "description": "An salpingitis caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0021159", "name": "Gonococcal salpingitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Neisseria gonorrhoeae caused salpingitis", "Neisseria gonorrhoeae salpingitis"], "xref": ["MEDGEN:574651", "SCTID:237038001", "UMLS:C0341811"]}
{"category": ["biolink:Disease"], "description": "An cystitis caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0021160", "name": "Gonococcal cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Neisseria gonorrhoeae caused cystitis", "Neisseria gonorrhoeae cystitis"], "xref": ["MEDGEN:633096", "SCTID:197848003", "UMLS:C0473230", "icd11.foundation:638246732"]}
{"category": ["biolink:Disease"], "description": "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.", "id": "MONDO:0021161", "name": "Gonococcal prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Neisseria gonorrhoeae caused prostatitis (disease)", "Neisseria gonorrhoeae prostatitis (disease)"], "xref": ["ICD10CM:A54.22", "MEDGEN:574622", "SCTID:197967000", "UMLS:C0341755", "icd11.foundation:1032655599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021162", "name": "Carotenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired carotenemia", "hypercarotinemia"], "xref": ["DOID:9969", "ICD9:278.3", "MEDGEN:56338", "SCTID:35487009", "UMLS:C0154271"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.", "id": "MONDO:0021163", "name": "Kidney neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["kidney neoplasm", "kidney neoplasm (disease)", "kidney tumor", "kidney tumour", "neoplasm of kidney", "neoplasm of the kidney", "renal neoplasm", "renal tumor", "renal tumors", "renal tumour", "renal tumours", "tumor of kidney", "tumor of the kidney", "tumour of kidney", "tumour of the kidney"], "xref": ["EFO:0003865", "ICD9:239.5", "MEDGEN:5967", "NCIT:C3150", "ONCOTREE:KIDNEY", "SCTID:126880001", "UMLS:C0022665"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.", "id": "MONDO:0021164", "name": "Posthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of prepuce of penis", "prepuce of penis inflammation"], "xref": ["MEDGEN:536423", "SCTID:44318002", "UMLS:C0235640", "icd11.foundation:1119547622"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.", "id": "MONDO:0021165", "name": "Paget's cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Paget disease", "Paget's cell neoplasm", "Paget's disease"], "xref": ["MEDGEN:277958", "NCIT:C7073", "UMLS:C1368019"]}
{"category": ["biolink:Disease"], "description": "A disease involving a pathogenic inflammatory response in the anatomical structure.", "id": "MONDO:0021166", "name": "Inflammatory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "synonym": ["anatomical structure inflammation", "inflammation of anatomical structure", "inflammatory disease", "inflammatory disorder"], "xref": ["ICD9:799.89", "MEDGEN:452939", "NCIT:C93210", "SCTID:128139000", "UMLS:C1290884"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.", "id": "MONDO:0021167", "name": "Myositis disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "synonym": ["inflammation of muscle tissue", "inflammatory disorder of muscle (disorder)", "muscle tissue inflammation"], "xref": ["DOID:633", "EFO:0000783", "ICD9:728.9", "MEDGEN:44564", "MESH:D009220", "NCIT:C27578", "SCTID:128496001", "UMLS:C0027121"]}
{"category": ["biolink:Disease"], "description": "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.", "id": "MONDO:0021168", "name": "Hibernoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Brown fat neoplasm", "Brown fat tumor", "Brown fat tumour", "fetal fat cell lipoma", "foetal fat cell lipoma", "hibernoma", "hibernoma, benign"], "xref": ["GARD:0027360", "ICDO:8880/0", "MEDGEN:61456", "NCIT:C3702", "SCTID:404064001", "UMLS:C0205822"]}
{"category": ["biolink:Disease"], "description": "A hemangioma characterized by the presence of epithelioid endothelial cells.", "id": "MONDO:0021169", "name": "Epithelioid hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epithelioid hemangioma", "histiocytoid hemangioma"], "xref": ["DOID:474", "GARD:0027057", "ICDO:9125/0", "MEDGEN:61449", "NCIT:C4298", "Orphanet:675396", "UMLS:C0205788"]}
{"category": ["biolink:Disease"], "description": "Classic form of Timothy syndrome, includes all features of generic.", "id": "MONDO:0021171", "name": "Timothy syndrome, classic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Timothy syndrome type 1 (disorder)"], "xref": ["GARD:0025297", "ICD9:759.89", "SCTID:699256006"]}
{"category": ["biolink:Disease"], "description": "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.", "id": "MONDO:0021172", "name": "Timothy syndrome, atypical type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ATS", "Atypical LQT8", "Timothy syndrome type 2 (disorder)", "atypical Timothy syndrome"], "xref": ["GARD:0022382", "ICD10CM:I49.8", "MEDGEN:1805271", "Orphanet:595109", "SCTID:719907006", "UMLS:C5575746"]}
{"category": ["biolink:Disease"], "description": "Infection of the vulva and the vagina caused by herpes simplex virus.", "id": "MONDO:0021175", "name": "Herpetic vulvovaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["herpetic vulvovaginitis"], "xref": ["ICD9:054.11", "MEDGEN:42440", "NCIT:C34697", "SCTID:27420004", "UMLS:C0019386"]}
{"category": ["biolink:Disease"], "description": "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.", "id": "MONDO:0021176", "name": "Autoimmune hepatitis type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["autoimmune hepatitis type 2", "type 2 AIH"], "xref": ["GARD:0022252", "MEDGEN:928832", "Orphanet:563581", "SCTID:721712002", "UMLS:C4303163", "icd11.foundation:61111843"]}
{"category": ["biolink:Disease"], "description": "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.", "id": "MONDO:0021177", "name": "Autoimmune hepatitis type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autoimmune hepatitis type 3"], "xref": ["GARD:0025298", "MEDGEN:928831", "SCTID:721713007", "UMLS:C4303162", "icd11.foundation:607786920"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021178", "medic_stub": true, "name": "injury", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.", "id": "MONDO:0021179", "name": "Proteostasis deficiencies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Proteostasis deficiency", "Proteostasis dysfunction", "Proteostasis dysfunctions", "deficiencies, Proteostasis", "deficiency, Proteostasis", "dysfunction, Proteostasis", "dysfunctions, Proteostasis"], "xref": ["MEDGEN:403490", "MESH:D057165", "UMLS:C2718000"]}
{"category": ["biolink:Disease"], "description": "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.", "id": "MONDO:0021180", "name": "Acquired xanthinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired xanthinuria"]}
{"category": ["biolink:Disease"], "description": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.", "id": "MONDO:0021181", "name": "Inherited blood coagulation disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["coagulation disorder, hereditary", "coagulation disorder, inherited", "coagulation disorders, hereditary", "coagulation disorders, inherited", "hereditary blood coagulation disease", "hereditary blood coagulation disorders", "hereditary coagulation disorder", "hereditary coagulation disorders", "inherited blood coagulation disorders", "inherited coagulation disorder", "inherited coagulation disorders", "rare genetic coagulation disorder"], "xref": ["DOID:2214", "GARD:0020319", "MEDGEN:163105", "MESH:D025861", "Orphanet:183654", "UMLS:C0852077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021183", "name": "Htlv-2 infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HTLV-2 infection"], "xref": ["EFO:1001349", "GARD:0009783", "MEDGEN:42515", "MESH:D015491", "SCTID:425740005", "UMLS:C0020102"]}
{"category": ["biolink:Disease"], "description": "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).", "id": "MONDO:0021184", "name": "Deltaretrovirus infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001303", "MEDGEN:9320", "MESH:D006800", "UMLS:C0020091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021187", "name": "Hyperlipidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperlipidemia", "hyperlipidemia (disease)"], "xref": ["HP:0003077", "ICD10CM:E78.5", "ICD9:272.4", "MEDGEN:5692", "MESH:D006949", "SCTID:55822004", "UMLS:C0020473"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of intestinal motility.", "id": "MONDO:0021189", "name": "Intestinal motility disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of intestinal motility"], "xref": ["MEDGEN:586448", "UMLS:C0400865"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of DNA repair.", "id": "MONDO:0021190", "name": "Dna repair disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["DNA repair disorder", "deficiency of DNA repair", "disorder of DNA repair"], "xref": ["EFO:0008499", "GARD:0025299", "MEDGEN:82774", "MESH:D049914", "NCIT:C7757", "UMLS:C0268134"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.", "id": "MONDO:0021192", "name": "Odontogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["calcareous tooth neoplasm", "calcareous tooth neoplasm (disease)", "calcareous tooth tumor", "calcareous tooth tumour", "neoplasm of calcareous tooth", "odontogenic neoplasm", "odontogenic tumor", "odontogenic tumour", "tumor of calcareous tooth", "tumour of calcareous tooth"], "xref": ["GARD:0027878", "ICDO:9270/1", "MEDGEN:10426", "MESH:D009808", "NCIT:C3286", "UMLS:C0028880"]}
{"category": ["biolink:Disease"], "description": "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.", "id": "MONDO:0021193", "name": "Neuroepithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of neuroepithelial tissue", "neoplasm of neuroepithelium", "neoplasm of the neuroepithelium", "neuroepithelial neoplasm", "neuroepithelial neoplasms", "neuroepithelial tissue neoplasm", "neuroepithelial tissue tumor", "neuroepithelial tissue tumour", "neuroepithelial tumor", "neuroepithelial tumors", "neuroepithelial tumour", "neuroepithelial tumours", "tumor of neuroepithelial tissue", "tumor of neuroepithelium", "tumor of the neuroepithelium", "tumour of neuroepithelial tissue", "tumour of neuroepithelium", "tumour of the neuroepithelium"], "xref": ["MEDGEN:60215", "MESH:D018302", "NCIT:C3787", "ONCOTREE:PRNET", "UMLS:C0206715"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.", "id": "MONDO:0021201", "name": "Skin infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["skin infection"], "xref": ["MEDGEN:52365", "NCIT:C35025", "SCTID:19824006", "UMLS:C0037278"]}
{"category": ["biolink:Disease"], "description": "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.", "id": "MONDO:0021202", "name": "Allergic otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["allergic form of otitis media (disease)", "allergic otitis media (disease)"], "xref": ["MEDGEN:543352", "SCTID:26169004", "UMLS:C0271447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021203", "name": "Serous otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["SOM"], "xref": ["MEDGEN:75752", "SCTID:80327007", "UMLS:C0271453"]}
{"category": ["biolink:Disease"], "description": "Chronic form of otitis media (disease).", "id": "MONDO:0021204", "name": "Chronic otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic otitis media (disease)", "otitis media (disease), chronic"], "xref": ["ICD9:381.3", "MEDGEN:75751", "SCTID:21186006", "UMLS:C0271441", "icd11.foundation:38010200"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the ear.", "id": "MONDO:0021205", "name": "Disorder of ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ear disease", "Ear disorder", "disease of ear", "disease or disorder of ear", "disorder of ear", "ear disease", "ear disease or disorder"], "xref": ["ICD9:388.8", "ICD9:388.9", "MEDGEN:3946", "NCIT:C26757", "SCTID:25906001", "UMLS:C0013447"]}
{"category": ["biolink:Disease"], "description": "Chronic form of non-suppurative otitis media.", "id": "MONDO:0021206", "name": "Chronic non-suppurative otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-suppurative otitis media, chronic"], "xref": ["ICD9:381.3", "MEDGEN:583104", "SCTID:232254004", "UMLS:C0395869"]}
{"category": ["biolink:Disease"], "description": "A Crohn disease involving a pathogenic inflammatory response in the jejunum.", "id": "MONDO:0021207", "name": "Crohn jejunitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:540631", "SCTID:91390005", "UMLS:C0267379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021208", "name": "Endocrine alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025300", "ICD9:704.09", "MEDGEN:507423", "SCTID:54539003", "UMLS:C0002176"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the heart.", "id": "MONDO:0021209", "name": "Heart neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Cardiac neoplasm", "Cardiac neoplasms", "Cardiac tumor", "Cardiac tumour", "heart neoplasm (disease)", "heart tumor", "heart tumour", "neoplasm of heart", "neoplasm of the heart", "tumor of heart", "tumor of the heart", "tumour of heart", "tumour of the heart"], "xref": ["EFO:1001339", "GARD:0002619", "MEDGEN:9172", "NANDO:2100061", "NANDO:2200236", "NCIT:C3081", "UMLS:C0018809"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the trachea.", "id": "MONDO:0021210", "name": "Trachea neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the trachea", "neoplasm of trachea", "trachea neoplasm (disease)", "trachea tumor", "trachea tumour", "tracheal neoplasm", "tracheal tumor", "tracheal tumour", "tumor of the trachea", "tumor of trachea", "tumour of the trachea", "tumour of trachea"], "xref": ["EFO:1001437", "GTR:AN0481062", "GTR:AN0505660", "HP:0100551", "MEDGEN:21602", "MESH:D014134", "NCIT:C3419", "UMLS:C0040582"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the brain.", "id": "MONDO:0021211", "name": "Brain neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain neoplasm (disease)", "brain neoplasms", "brain tumor", "brain tumour", "neoplasm of brain", "neoplasm of the brain", "tumor of brain", "tumor of the Brain", "tumour of brain", "tumour of the Brain"], "xref": ["EFO:0003833", "MEDGEN:14216", "NCIT:C2907", "UMLS:C0006118"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the placenta.", "id": "MONDO:0021218", "name": "Placenta neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of placenta", "neoplasm of the placenta", "placenta neoplasm (disease)", "placenta neoplasms", "placenta tumor", "placenta tumors", "placenta tumour", "placenta tumours", "placental neoplasm", "placental tumor", "placental tumors", "placental tumour", "placental tumours", "tumor of placenta", "tumor of the placenta", "tumour of placenta", "tumour of the placenta"], "xref": ["MEDGEN:105551", "NCIT:C4858", "UMLS:C0524541"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the eye.", "id": "MONDO:0021220", "name": "Eye neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["eye neoplasm (disease)", "eye tumor", "eye tumour", "eyeball of camera-type eye neoplasm", "eyeball of camera-type eye tumor", "eyeball of camera-type eye tumour", "neoplasm of eye", "neoplasm of eyeball of camera-type eye", "neoplasm of the eye", "ocular neoplasm", "ocular tumor", "ocular tumour", "tumor of eye", "tumor of eyeball of camera-type eye", "tumor of the eye", "tumour of eye", "tumour of eyeball of camera-type eye", "tumour of the eye"], "xref": ["EFO:0003824", "ICD10CM:C69-C72", "MEDGEN:5095", "NCIT:C3030", "ONCOTREE:EYE", "UMLS:C0015414"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the vestibulocochlear nerve.", "id": "MONDO:0021221", "name": "Vestibulocochlear nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Vestibuloacoustic nerve neoplasms", "acoustic nerve neoplasm", "acoustic nerve tumor", "acoustic nerve tumour", "cranial nerve eight neoplasms", "eighth cranial nerve neoplasm", "eighth cranial nerve neoplasms", "eighth cranial nerve tumor", "eighth cranial nerve tumour", "neoplasm of acoustic nerve", "neoplasm of eighth cranial nerve", "neoplasm of the acoustic nerve", "neoplasm of the eighth cranial nerve", "neoplasm of the vestibulocochlear nerve", "neoplasm of vestibulocochlear nerve", "tumor of acoustic nerve", "tumor of eighth cranial nerve", "tumor of the acoustic nerve", "tumor of the eighth cranial nerve", "tumor of the vestibulocochlear nerve", "tumor of vestibulocochlear nerve", "tumour of acoustic nerve", "tumour of eighth cranial nerve", "tumour of the acoustic nerve", "tumour of the eighth cranial nerve", "tumour of the vestibulocochlear nerve", "tumour of vestibulocochlear nerve", "vestibulocochlear nerve neoplasm (disease)", "vestibulocochlear nerve neoplasms", "vestibulocochlear nerve tumor", "vestibulocochlear nerve tumour"], "xref": ["MEDGEN:91099", "NCIT:C5120", "SCTID:387891008", "UMLS:C0346330"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the lacrimal gland.", "id": "MONDO:0021222", "name": "Lacrimal gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lacrimal gland neoplasm (disease)", "lacrimal gland tumor", "lacrimal gland tumour", "neoplasm of lacrimal gland", "neoplasm of the lacrimal gland", "tumor of lacrimal gland", "tumor of the lacrimal gland", "tumour of lacrimal gland", "tumour of the lacrimal gland"], "xref": ["MEDGEN:83280", "NCIT:C4360", "UMLS:C0339124"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the digestive system.", "id": "MONDO:0021223", "name": "Digestive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GI neoplasm", "GI system neoplasm", "GI system tumor", "GI system tumour", "GI tumor", "GI tumour", "digestive neoplasm", "digestive system neoplasm (disease)", "digestive system tumor", "digestive system tumour", "digestive tumor", "digestive tumour", "gastrointestinal neoplasm", "gastrointestinal system neoplasm", "gastrointestinal system tumor", "gastrointestinal system tumour", "gastrointestinal tumor", "gastrointestinal tumour", "neoplasm of GI system", "neoplasm of digestive system", "neoplasm of gastrointestinal system", "neoplasm of the GI system", "neoplasm of the digestive system", "neoplasm of the gastrointestinal system", "tumor of GI system", "tumor of digestive system", "tumor of gastrointestinal system", "tumor of the GI system", "tumor of the digestive system", "tumor of the gastrointestinal system", "tumour of GI system", "tumour of digestive system", "tumour of gastrointestinal system", "tumour of the GI system", "tumour of the digestive system", "tumour of the gastrointestinal system"], "xref": ["EFO:0008549", "MEDGEN:8398", "MESH:D005770", "NCIT:C3052", "UMLS:C0012243"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the iris.", "id": "MONDO:0021224", "name": "Iris neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["iris neoplasm (disease)", "iris tumor", "iris tumour", "neoplasm of iris", "neoplasm of the iris", "tumor of iris", "tumor of the iris", "tumour of iris", "tumour of the iris"], "xref": ["MEDGEN:7159", "MESH:D015811", "NCIT:C3142", "UMLS:C0022079"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the uvea.", "id": "MONDO:0021225", "name": "Uvea neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the uvea", "neoplasm of uvea", "tumor of the uvea", "tumor of uvea", "tumour of the uvea", "tumour of uvea", "uvea neoplasm (disease)", "uvea tumor", "uvea tumour", "uveal neoplasm", "uveal tumor", "uveal tumour"], "xref": ["MEDGEN:52960", "NCIT:C3436", "UMLS:C0042162"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the adrenal gland.", "id": "MONDO:0021227", "name": "Adrenal gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland neoplasm (disease)", "adrenal gland tumor", "adrenal gland tumour", "adrenal neoplasm", "adrenal neoplasms", "adrenal tumor", "adrenal tumour", "neoplasm of adrenal gland", "neoplasm of the adrenal gland", "tumor of adrenal gland", "tumor of the adrenal gland", "tumour of adrenal gland", "tumour of the adrenal gland"], "xref": ["EFO:0003850", "GARD:0019765", "MEDGEN:1352", "NCIT:C2859", "ONCOTREE:ADRENAL_GLAND", "Orphanet:100091", "UMLS:C0001624"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the brainstem.", "id": "MONDO:0021228", "name": "Brainstem neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Brain stem neoplasm", "brain stem tumor", "brain stem tumour", "brainstem neoplasm (disease)", "brainstem tumor", "brainstem tumour", "neoplasm of brain stem", "neoplasm of brainstem", "neoplasm of the brain stem", "neoplasm of the brainstem", "tumor of brain stem", "tumor of brainstem", "tumor of the brain stem", "tumor of the brainstem", "tumour of brain stem", "tumour of brainstem", "tumour of the brain stem", "tumour of the brainstem"], "xref": ["EFO:1001767", "MEDGEN:146207", "NCIT:C4869", "Orphanet:36414", "UMLS:C0677866"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the ciliary body.", "id": "MONDO:0021229", "name": "Ciliary body neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ciliary body neoplasm (disease)", "ciliary body tumor", "ciliary body tumour", "neoplasm of ciliary body", "neoplasm of the ciliary body", "tumor of ciliary body", "tumor of the ciliary body", "tumour of ciliary body", "tumour of the ciliary body"], "xref": ["MEDGEN:137916", "NCIT:C4364", "UMLS:C0339349"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the uterine cervix.", "id": "MONDO:0021230", "name": "Uterine cervix neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Cervical neoplasm", "cervical tumor", "cervical tumour", "cervix neoplasm", "cervix tumor", "cervix tumour", "cervix uteri neoplasm", "cervix uteri tumor", "cervix uteri tumour", "neoplasm of cervix", "neoplasm of cervix uteri", "neoplasm of the cervix", "neoplasm of the cervix uteri", "neoplasm of the uterine cervix", "neoplasm of uterine cervix", "tumor of cervix", "tumor of cervix uteri", "tumor of the cervix", "tumor of the cervix uteri", "tumor of the uterine cervix", "tumor of uterine cervix", "tumour of cervix", "tumour of cervix uteri", "tumour of the cervix", "tumour of the cervix uteri", "tumour of the uterine cervix", "tumour of uterine cervix", "uterine cervix neoplasm (disease)", "uterine cervix tumor", "uterine cervix tumour"], "xref": ["MEDGEN:40201", "NCIT:C2940", "ONCOTREE:CERVIX", "UMLS:C0007873"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the retina.", "id": "MONDO:0021231", "name": "Retina neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of retina", "neoplasm of the retina", "retina neoplasm (disease)", "retina tumor", "retina tumour", "retinal neoplasm", "retinal tumor", "retinal tumour", "tumor of retina", "tumor of the retina", "tumour of retina", "tumour of the retina"], "xref": ["EFO:1000509", "MEDGEN:101180", "NCIT:C4800", "UMLS:C0524801"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the pineal body.", "id": "MONDO:0021232", "name": "Pineal body neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pineal area", "neoplasm of pineal body", "neoplasm of pineal region", "neoplasm of the pineal area", "neoplasm of the pineal region", "pineal area neoplasm", "pineal area tumor", "pineal area tumour", "pineal body neoplasm (disease)", "pineal body tumor", "pineal body tumour", "pineal neoplasm", "pineal region neoplasm", "pineal region tumor", "pineal region tumour", "pineal tumor", "pineal tumour", "pinealoma", "tumor of pineal area", "tumor of pineal body", "tumor of pineal region", "tumor of the pineal area", "tumor of the pineal region", "tumour of pineal area", "tumour of pineal body", "tumour of pineal region", "tumour of the pineal area", "tumour of the pineal region"], "xref": ["MEDGEN:237252", "NCIT:C3328", "ONCOTREE:PINT", "UMLS:C1412004"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the ear.", "id": "MONDO:0021233", "name": "Ear neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ear neoplasms", "Ear tumor", "Ear tumour", "ear neoplasm (disease)", "ear tumor", "ear tumour", "neoplasm of Ear", "neoplasm of ear", "neoplasm of the Ear", "tumor of Ear", "tumor of ear", "tumor of the Ear", "tumour of Ear", "tumour of ear", "tumour of the Ear"], "xref": ["MEDGEN:4431", "NCIT:C3000", "UMLS:C0013449"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the spinal cord.", "id": "MONDO:0021234", "name": "Spinal cord neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of spinal cord", "neoplasm of the spinal cord", "spinal cord neoplasm (disease)", "spinal cord tumor", "spinal cord tumour", "tumor of spinal cord", "tumor of the spinal cord", "tumour of spinal cord", "tumour of the spinal cord"], "xref": ["EFO:0003828", "MEDGEN:11551", "MESH:D013120", "NCIT:C3381", "UMLS:C0037930"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the external ear.", "id": "MONDO:0021235", "name": "External ear neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["external Ear tumor", "external Ear tumour", "external ear neoplasm (disease)", "external ear tumor", "external ear tumour", "neoplasm of external Ear", "neoplasm of external ear", "neoplasm of the external Ear", "tumor of external Ear", "tumor of external ear", "tumor of the external Ear", "tumour of external Ear", "tumour of external ear", "tumour of the external Ear"], "xref": ["MEDGEN:87606", "NCIT:C4652", "SCTID:277155005", "UMLS:C0349575"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the adrenal medulla.", "id": "MONDO:0021237", "name": "Adrenal medulla neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal medulla neoplasm (disease)", "adrenal medulla tumor", "adrenal medulla tumour", "neoplasm of adrenal medulla", "tumor of adrenal medulla", "tumour of adrenal medulla"], "xref": ["GARD:0025301", "MEDGEN:108572", "NCIT:C4856", "UMLS:C0596046"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the cornea.", "id": "MONDO:0021238", "name": "Cornea neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cornea neoplasm (disease)", "cornea tumor", "cornea tumour", "corneal neoplasm", "corneal tumor", "corneal tumour", "neoplasm of cornea", "neoplasm of the cornea", "tumor of cornea", "tumor of the cornea", "tumour of cornea", "tumour of the cornea"], "xref": ["MEDGEN:90940", "NCIT:C4361", "UMLS:C0339304"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the urethra.", "id": "MONDO:0021239", "name": "Urethra neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the urethra", "neoplasm of urethra", "neoplasms. urethra", "tumor of the urethra", "tumor of urethra", "tumors. urethra", "tumour of the urethra", "tumour of urethra", "urethra neoplasm (disease)", "urethra neoplasms", "urethra tumor", "urethra tumors", "urethra tumour", "urethra tumours", "urethral neoplasm", "urethral neoplasms", "urethral tumor", "urethral tumors", "urethral tumour", "urethral tumours"], "xref": ["EFO:0003846", "MEDGEN:12014", "NCIT:C3428", "UMLS:C0041971"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the tongue.", "id": "MONDO:0021240", "name": "Tongue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the tongue", "neoplasm of tongue", "tongue neoplasm (disease)", "tongue tumor", "tongue tumour", "tumor of the tongue", "tumor of tongue", "tumour of the tongue", "tumour of tongue"], "xref": ["EFO:0003871", "MEDGEN:52778", "NCIT:C3416", "SCTID:126778001", "UMLS:C0040411"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the buccal mucosa.", "id": "MONDO:0021241", "name": "Buccal mucosa neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["buccal mucosa neoplasm (disease)", "buccal mucosa tumor", "buccal mucosa tumour", "neoplasm of buccal mucosa", "neoplasm of the buccal mucosa", "tumor of buccal mucosa", "tumor of the buccal mucosa", "tumour of buccal mucosa", "tumour of the buccal mucosa"], "xref": ["MEDGEN:138021", "NCIT:C4405", "SCTID:126802007", "UMLS:C0345563"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the sublingual gland.", "id": "MONDO:0021242", "name": "Sublingual gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of sublingual gland", "neoplasm of the sublingual gland", "sublingual gland neoplasm (disease)", "sublingual gland tumor", "sublingual gland tumour", "tumor of sublingual gland", "tumor of the sublingual gland", "tumour of sublingual gland", "tumour of the sublingual gland"], "xref": ["MEDGEN:21371", "MESH:D013362", "NCIT:C3392", "SCTID:126790004", "UMLS:C0038554"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the parotid gland.", "id": "MONDO:0021243", "name": "Parotid gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of parotid", "neoplasm of parotid gland", "neoplasm of the parotid", "neoplasm of the parotid gland", "parotid gland neoplasm (disease)", "parotid gland tumor", "parotid gland tumour", "parotid neoplasm", "parotid tumor", "parotid tumour", "tumor of parotid", "tumor of parotid gland", "tumor of the parotid", "tumor of the parotid gland", "tumour of parotid", "tumour of parotid gland", "tumour of the parotid", "tumour of the parotid gland"], "xref": ["EFO:0003873", "MEDGEN:18313", "NCIT:C3314", "SCTID:126788000", "UMLS:C0030581"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the submandibular gland.", "id": "MONDO:0021244", "name": "Submandibular gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of submandibular gland", "neoplasm of the submandibular gland", "submandibular gland neoplasm (disease)", "submandibular gland tumor", "submandibular gland tumour", "tumor of submandibular gland", "tumor of the submandibular gland", "tumour of submandibular gland", "tumour of the submandibular gland"], "xref": ["EFO:1001853", "MEDGEN:20986", "MESH:D013365", "NCIT:C3393", "SCTID:254464000", "UMLS:C0038558"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the oral cavity.", "id": "MONDO:0021245", "name": "Oral cavity neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mouth neoplasm", "mouth tumor", "mouth tumour", "neoplasm of oral cavity", "oral cavity neoplasm (disease)", "oral cavity tumor", "oral cavity tumour", "tumor of oral cavity", "tumour of oral cavity"], "xref": ["EFO:0003868", "ICD10CM:C00-C14", "MEDGEN:7722", "NCIT:C7606", "SCTID:235075007", "UMLS:C0026640"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the pharynx.", "id": "MONDO:0021246", "name": "Pharynx neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pharynx", "neoplasm of the pharynx", "pharyngeal neoplasms", "pharyngeal tumor", "pharyngeal tumour", "pharynx neoplasm (disease)", "pharynx tumor", "pharynx tumour", "tumor of pharynx", "tumor of the pharynx", "tumour of pharynx", "tumour of the pharynx"], "xref": ["ICD10CM:C00-C14", "MEDGEN:45844", "NCIT:C3325", "UMLS:C0031347"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the nervous system.", "id": "MONDO:0021248", "name": "Nervous system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of nervous system", "neoplasm of the nervous system", "nervous system neoplasm (disease)", "nervous system neoplasms", "nervous system tumor", "nervous system tumour", "tumor of nervous system", "tumor of the nervous system", "tumour of nervous system", "tumour of the nervous system"], "xref": ["MEDGEN:45046", "NCIT:C3268", "UMLS:C0027766"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the lip.", "id": "MONDO:0021249", "name": "Lip neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lip neoplasm (disease)", "lip neoplasms", "lip tumor", "lip tumour", "neoplasm of Lip", "neoplasm of lip", "neoplasm of the Lip", "tumor of Lip", "tumor of lip", "tumor of the Lip", "tumour of Lip", "tumour of lip", "tumour of the Lip"], "xref": ["ICD10CM:C00-C14", "MEDGEN:9777", "NCIT:C3191", "SCTID:126770008", "UMLS:C0023761"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the tonsil.", "id": "MONDO:0021250", "name": "Tonsil neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the tonsil", "neoplasm of tonsil", "tonsil neoplasm (disease)", "tonsil tumor", "tonsil tumour", "tonsillar neoplasm", "tonsillar neoplasms", "tonsillar tumor", "tonsillar tumour", "tumor of the tonsil", "tumor of tonsil", "tumour of the tonsil", "tumour of tonsil"], "xref": ["MEDGEN:21201", "NCIT:C3417", "SCTID:127227003", "UMLS:C0040422"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the endometrium.", "id": "MONDO:0021251", "name": "Endometrium neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["endometrial neoplasm", "endometrial tumor", "endometrial tumour", "endometrium neoplasm (disease)", "endometrium tumor", "endometrium tumour", "neoplasm of endometrium", "neoplasm of the endometrium", "tumor of endometrium", "tumor of the endometrium", "tumour of endometrium", "tumour of the endometrium"], "xref": ["ICD9:239.5", "MEDGEN:8619", "MESH:D016889", "NCIT:C3012", "SCTID:123844007", "UMLS:C0014170"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the gall bladder.", "id": "MONDO:0021253", "name": "Gallbladder neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gall bladder neoplasm", "gall bladder neoplasm (disease)", "gall bladder tumor", "gall bladder tumour", "gallbladder tumor", "gallbladder tumour", "neoplasm of gall bladder", "neoplasm of gallbladder", "neoplasm of the gallbladder", "tumor of gall bladder", "tumor of gallbladder", "tumor of the gallbladder", "tumour of gall bladder", "tumour of gallbladder", "tumour of the gallbladder"], "xref": ["EFO:0004606", "MEDGEN:42134", "MESH:D005706", "NCIT:C3048", "UMLS:C0016978"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the body of uterus.", "id": "MONDO:0021254", "name": "Corpus uteri neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["body of uterus neoplasm", "body of uterus neoplasm (disease)", "body of uterus tumor", "body of uterus tumour", "corpus uteri tumor", "corpus uteri tumour", "neoplasm of body of uterus", "neoplasm of corpus uteri", "neoplasm of the body of uterus", "neoplasm of the corpus uteri", "neoplasm of the uterine body", "neoplasm of the uterine corpus", "neoplasm of uterine body", "neoplasm of uterine corpus", "tumor of body of uterus", "tumor of corpus uteri", "tumor of the corpus uteri", "tumor of the uterine body", "tumor of the uterine corpus", "tumor of uterine body", "tumor of uterine corpus", "tumour of body of uterus", "tumour of corpus uteri", "tumour of the corpus uteri", "tumour of the uterine body", "tumour of the uterine corpus", "tumour of uterine body", "tumour of uterine corpus", "uterine body neoplasm", "uterine body tumor", "uterine body tumour", "uterine corpus neoplasm", "uterine corpus tumor", "uterine corpus tumour"], "xref": ["MEDGEN:226810", "NCIT:C6300", "SCTID:126909004", "UMLS:C1263777"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the optic choroid.", "id": "MONDO:0021258", "name": "Choroid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["choroid tumor", "choroid tumour", "choroidal neoplasm", "choroidal tumor", "choroidal tumour", "neoplasm of choroid", "neoplasm of optic choroid", "neoplasm of the choroid", "optic choroid neoplasm", "optic choroid neoplasm (disease)", "optic choroid tumor", "optic choroid tumour", "tumor of choroid", "tumor of optic choroid", "tumor of the choroid", "tumour of choroid", "tumour of optic choroid", "tumour of the choroid"], "xref": ["MEDGEN:3059", "NCIT:C2949", "UMLS:C0008523"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the prostate gland.", "id": "MONDO:0021259", "name": "Prostate neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of prostate", "neoplasm of prostate gland", "neoplasm of the prostate", "prostate gland neoplasm", "prostate gland neoplasm (disease)", "prostate gland tumor", "prostate gland tumour", "prostate tumor", "prostate tumour", "tumor of prostate", "tumor of prostate gland", "tumor of the prostate", "tumour of prostate", "tumour of prostate gland", "tumour of the prostate"], "xref": ["DOID:13206", "ICD9:600.1", "MEDGEN:18697", "NCIT:C3343", "ONCOTREE:PROSTATE", "UMLS:C0033578"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the sensory ganglion.", "id": "MONDO:0021260", "name": "Sensory ganglionopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["disease of sensory ganglion", "disease or disorder of sensory ganglion", "disorder of sensory ganglion", "sensory ganglion disease", "sensory ganglion disease or disorder"]}
{"category": ["biolink:Disease"], "description": "A villous adenoma that involves the colon.", "id": "MONDO:0021271", "name": "Villous adenoma of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon villous adenoma", "colonic villous adenoma", "villous adenoma of the colon"], "xref": ["MEDGEN:56207", "NCIT:C3495", "SCTID:309084001", "UMLS:C0149862"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021272", "name": "Inherited orthostatic hypotension", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021878", "MEDGEN:1842591", "OMIMPS:223360", "Orphanet:448426", "UMLS:C5681106"]}
{"category": ["biolink:Disease"], "description": "A leiomyoma that involves the ciliary body.", "id": "MONDO:0021273", "name": "Leiomyoma of ciliary body", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ciliary body leiomyoma", "leiomyoma of the ciliary body"], "xref": ["ICD9:224.0", "MEDGEN:138063", "NCIT:C4560", "SCTID:255020006", "UMLS:C0346386", "icd11.foundation:99905286"]}
{"category": ["biolink:Disease"], "description": "A papilloma that involves the eyelid.", "id": "MONDO:0021275", "name": "Papilloma of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eyelid papilloma", "papilloma of the eyelid"], "xref": ["MEDGEN:256159", "NCIT:C4061", "SCTID:314515006", "UMLS:C1142491", "icd11.foundation:643260480"]}
{"category": ["biolink:Disease"], "description": "A papilloma that involves the buccal mucosa.", "id": "MONDO:0021276", "name": "Papilloma of buccal mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["buccal mucosa papilloma", "papilloma of the buccal mucosa"], "xref": ["ICD9:210.4", "MEDGEN:231971", "NCIT:C5819", "SCTID:448147005", "UMLS:C1332641"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that involves the submandibular gland.", "id": "MONDO:0021279", "name": "Mucoepidermoid carcinoma of submandibular gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucoepidermoid carcinoma of the submandibular gland", "submandibular gland mucoepidermoid carcinoma"], "xref": ["GARD:0025302", "MEDGEN:277774", "NCIT:C5939", "SCTID:423424005", "UMLS:C1336524"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma that involves the parotid gland.", "id": "MONDO:0021280", "name": "Mucoepidermoid carcinoma of parotid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucoepidermoid carcinoma of parotid", "mucoepidermoid carcinoma of the parotid", "mucoepidermoid carcinoma of the parotid gland", "parotid gland mucoepidermoid carcinoma", "parotid mucoepidermoid carcinoma"], "xref": ["GARD:0025303", "MEDGEN:277506", "NCIT:C5938", "SCTID:423793008", "UMLS:C1335363", "icd11.foundation:135568040"]}
{"category": ["biolink:Disease"], "description": "A cavernous hemangioma that involves the retina.", "id": "MONDO:0021281", "name": "Cavernous hemangioma of retina", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cavernous angioma of retina", "cavernous angioma of the retina", "cavernous hemangioma of the retina", "retina cavernous angioma", "retina cavernous hemangioma", "retinal cavernous angioma", "retinal cavernous hemangioma"], "xref": ["GARD:0025304", "MEDGEN:152678", "NCIT:C4921", "SCTID:312937006", "UMLS:C0730304"]}
{"category": ["biolink:Disease"], "description": "A malignant teratoma that involves the testis.", "id": "MONDO:0021282", "name": "Malignant teratoma of testis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immature teratoma of testis", "immature teratoma of the testis", "immature testicular teratoma", "malignant teratoma of the testis", "malignant testicular teratoma", "testicular immature teratoma", "testicular malignant teratoma", "testis malignant teratoma"], "xref": ["GARD:0025305", "ICD9:186.9", "MEDGEN:232636", "NCIT:C6353", "SCTID:416769008", "UMLS:C1334154", "icd11.foundation:1214355345"]}
{"category": ["biolink:Disease"], "description": "A malignant teratoma that involves the mediastinum.", "id": "MONDO:0021283", "name": "Malignant teratoma of mediastinum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["immature malignant teratoma of mediastinum", "immature malignant teratoma of the mediastinum", "malignant mediastinal teratoma", "malignant teratoma of the mediastinum", "mediastinal immature malignant teratoma", "mediastinum malignant teratoma"], "xref": ["GARD:0025306", "MEDGEN:91164", "NCIT:C4668", "SCTID:278042005", "UMLS:C0349663"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the ureter.", "id": "MONDO:0021284", "name": "Carcinoma in situ of ureter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of the ureter", "carcinoma in situ of ureter", "stage 0 ureter carcinoma", "stage 0is carcinoma of the ureter", "stage 0is carcinoma of ureter", "stage 0is ureter cancer", "stage 0is ureter cancer aJCC v7", "stage 0is ureter carcinoma", "stage 0is ureter urothelial cancer", "stage 0is ureter urothelial carcinoma", "stage 0is ureter urothelial carcinoma aJCC v7", "stage 0is ureteral carcinoma", "ureter cancer stage 0is", "ureter carcinoma in situ", "ureter in situ carcinoma", "ureteral carcinoma in situ"], "xref": ["ICD9:233.9", "MEDGEN:1660901", "NCIT:C4529", "SCTID:92782006", "UMLS:C4721448"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the urethra.", "id": "MONDO:0021285", "name": "Carcinoma in situ of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of the urethra", "carcinoma in situ of urethra", "stage 0 urethra carcinoma", "stage 0is carcinoma of the urethra", "stage 0is carcinoma of urethra", "stage 0is urethra carcinoma", "stage 0is urethral cancer", "stage 0is urethral cancer aJCC v7", "stage 0is urethral carcinoma", "urethra carcinoma in situ", "urethra in situ carcinoma", "urethral carcinoma in situ"], "xref": ["GARD:0027879", "ICD9:233.9", "MEDGEN:1661236", "NCIT:C4531", "SCTID:92784007", "UMLS:C4721449"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the epiglottis.", "id": "MONDO:0021287", "name": "Carcinoma in situ of epiglottis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Epiglottis carcinoma in situ", "carcinoma in situ of epiglottis", "carcinoma in situ of the Epiglottis", "epiglottic carcinoma in situ", "epiglottis carcinoma in situ", "epiglottis in situ carcinoma", "stage 0 epiglottic carcinoma", "stage 0 epiglottic carcinoma aJCC v6", "stage 0 epiglottic carcinoma aJCC v6, v7, and v8", "stage 0 epiglottic carcinoma aJCC v7", "stage 0 epiglottic carcinoma aJCC v8", "stage 0 epiglottic throat cancer", "stage 0 epiglottis carcinoma"], "xref": ["GARD:0027880", "MEDGEN:87571", "NCIT:C4592", "SCTID:92584005", "UMLS:C0347103", "icd11.foundation:238950969"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the hypopharynx.", "id": "MONDO:0021288", "name": "Carcinoma in situ of hypopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of hypopharynx", "carcinoma in situ of the hypopharynx", "hypopharyngeal carcinoma in situ", "hypopharynx carcinoma in situ", "hypopharynx in situ carcinoma", "stage 0 carcinoma of hypopharynx", "stage 0 carcinoma of the hypopharynx", "stage 0 hypopharyngeal cancer", "stage 0 hypopharyngeal carcinoma", "stage 0 hypopharyngeal carcinoma aJCC v6", "stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8", "stage 0 hypopharyngeal carcinoma aJCC v7", "stage 0 hypopharyngeal carcinoma aJCC v8", "stage 0 hypopharyngeal carcinoma in situ", "stage 0 hypopharyngeal throat cancer", "stage 0 hypopharynx carcinoma"], "xref": ["GARD:0027881", "MEDGEN:138078", "NCIT:C9101", "SCTID:92612007", "UMLS:C0347100", "icd11.foundation:591890094"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the caecum.", "id": "MONDO:0021289", "name": "Carcinoma in situ of cecum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["caecum carcinoma in situ", "caecum in situ carcinoma", "carcinoma in situ of caecum", "carcinoma in situ of the cecum", "cecum carcinoma in situ", "cecum carcinoma in situ aJCC v6", "cecum carcinoma in situ aJCC v7", "stage 0 caecum carcinoma", "stage 0 cecum carcinoma"], "xref": ["MEDGEN:83854", "NCIT:C4594", "SCTID:92559007", "UMLS:C0347126"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the vermiform appendix.", "id": "MONDO:0021290", "name": "Carcinoma in situ of appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of the appendix", "carcinoma in situ of vermiform appendix", "stage 0 appendix cancer", "stage 0 appendix carcinoma", "stage 0 appendix carcinoma aJCC v7", "stage 0 vermiform appendix carcinoma", "vermiform appendix carcinoma in situ", "vermiform appendix in situ carcinoma"], "xref": ["GARD:0025307", "MEDGEN:83853", "NCIT:C4593", "SCTID:92539008", "UMLS:C0347125", "icd11.foundation:1098804908"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the fundus of stomach.", "id": "MONDO:0021291", "name": "Carcinoma in situ of fundus of stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of fundus of stomach", "carcinoma in situ of gastric fundus", "carcinoma in situ of the fundus of the stomach", "carcinoma in situ of the gastric fundus", "fundus of stomach carcinoma in situ", "fundus of stomach in situ carcinoma", "gastric fundus carcinoma in situ", "gastric fundus carcinoma in situ aJCC v6 and v7", "stage 0 fundus of stomach carcinoma", "stage 0 gastric fundus carcinoma"], "xref": ["GARD:0027882", "MEDGEN:91053", "NCIT:C4429", "SCTID:92598002", "UMLS:C0345800"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the body of stomach.", "id": "MONDO:0021292", "name": "Carcinoma in situ of gastric body", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of stomach carcinoma in situ", "body of stomach in situ carcinoma", "carcinoma in situ of body of stomach", "carcinoma in situ of the body of the stomach", "carcinoma in situ of the gastric body", "gastric body carcinoma in situ", "gastric body carcinoma in situ aJCC v6 and v7", "stage 0 body of stomach carcinoma", "stage 0 gastric body carcinoma"], "xref": ["GARD:0027883", "MEDGEN:87516", "NCIT:C4430", "SCTID:92549006", "UMLS:C0345805"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the cardia of stomach.", "id": "MONDO:0021294", "name": "Carcinoma in situ of gastric cardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of cardia of stomach", "carcinoma in situ of the cardia of the stomach", "carcinoma in situ of the gastric cardia", "cardia of stomach carcinoma in situ", "cardia of stomach in situ carcinoma", "gastric cardia carcinoma in situ", "gastric cardia carcinoma in situ aJCC v6 and v7", "stage 0 cardia of stomach carcinoma", "stage 0 gastric cardia carcinoma"], "xref": ["GARD:0027884", "MEDGEN:91052", "NCIT:C4428", "SCTID:92560002", "UMLS:C0345795"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the renal pelvis.", "id": "MONDO:0021296", "name": "Carcinoma in situ of renal pelvis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoma in situ of kidney pelvis", "carcinoma in situ of renal pelvis", "carcinoma in situ of the kidney pelvis", "carcinoma in situ of the renal pelvis", "kidney pelvis carcinoma in situ", "renal pelvis carcinoma in situ", "renal pelvis in situ carcinoma", "stage 0 renal pelvis carcinoma", "stage 0is carcinoma of kidney pelvis", "stage 0is carcinoma of renal pelvis", "stage 0is carcinoma of the kidney pelvis", "stage 0is carcinoma of the renal pelvis", "stage 0is kidney pelvis carcinoma", "stage 0is kidney renal pelvis urothelial cancer", "stage 0is renal pelvis cancer", "stage 0is renal pelvis cancer aJCC v7", "stage 0is renal pelvis urothelial carcinoma", "stage 0is renal pelvis urothelial carcinoma aJCC v7"], "xref": ["ICD9:233.9", "MEDGEN:83855", "NCIT:C4597", "SCTID:92697000", "UMLS:C0347184"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the nasopharynx.", "id": "MONDO:0021297", "name": "Carcinoma in situ of nasopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["carcinoma in situ of nasopharynx", "carcinoma in situ of the nasopharynx", "nasopharyngeal carcinoma in situ", "nasopharynx carcinoma in situ", "nasopharynx in situ carcinoma", "stage 0 carcinoma of nasopharynx", "stage 0 carcinoma of the nasopharynx", "stage 0 nasopharyngeal cancer", "stage 0 nasopharyngeal carcinoma", "stage 0 nasopharyngeal carcinoma aJCC v6", "stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8", "stage 0 nasopharyngeal carcinoma aJCC v7", "stage 0 nasopharyngeal carcinoma aJCC v8", "stage 0 nasopharyngeal carcinoma in situ", "stage 0 nasopharyngeal throat cancer", "stage 0 nasopharynx carcinoma"], "xref": ["GARD:0025308", "MEDGEN:83850", "NCIT:C9099", "SCTID:92664001", "UMLS:C0347096", "icd11.foundation:1626158287"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the oropharynx.", "id": "MONDO:0021298", "name": "Carcinoma in situ of oropharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of oropharynx", "carcinoma in situ of the oropharynx", "oropharyngeal cancer stage 0", "oropharyngeal carcinoma in situ", "oropharynx carcinoma in situ", "oropharynx in situ carcinoma", "stage 0 carcinoma of oropharynx", "stage 0 carcinoma of the oropharynx", "stage 0 oropharyngeal cancer", "stage 0 oropharyngeal carcinoma", "stage 0 oropharyngeal carcinoma aJCC v6", "stage 0 oropharyngeal carcinoma aJCC v6 and v7", "stage 0 oropharyngeal carcinoma aJCC v7", "stage 0 oropharyngeal carcinoma in situ", "stage 0 oropharyngeal throat cancer", "stage 0 oropharynx carcinoma"], "xref": ["GARD:0027885", "MEDGEN:83852", "NCIT:C4590", "SCTID:92668003", "UMLS:C0347099", "icd11.foundation:364791852"]}
{"category": ["biolink:Disease"], "description": "A in situ carcinoma that involves the extrahepatic bile duct.", "id": "MONDO:0021299", "name": "Carcinoma in situ of extrahepatic bile duct", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma in situ of extrahepatic bile duct", "carcinoma in situ of extrahepatic bile ducts", "carcinoma in situ of extrahepatic biliary ducts", "carcinoma in situ of the extrahepatic bile duct", "extrahepatic bile duct cancer stage 0", "extrahepatic bile duct carcinoma in situ", "extrahepatic bile duct in situ carcinoma", "extrahepatic biliary duct carcinoma in situ", "stage 0 carcinoma of extrahepatic bile duct", "stage 0 carcinoma of the extrahepatic bile duct", "stage 0 extrahepatic bile duct cancer", "stage 0 extrahepatic bile duct carcinoma", "stage 0 extrahepatic bile duct carcinoma in situ"], "xref": ["GARD:0025309", "MEDGEN:138028", "NCIT:C4442", "SCTID:92589000", "UMLS:C0345914"]}
{"category": ["biolink:Disease"], "description": "A adenoid cystic carcinoma that involves the oropharynx.", "id": "MONDO:0021300", "name": "Adenoid cystic carcinoma of oropharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of the oropharynx", "oropharyngeal adenoid cystic carcinoma", "oropharyngeal throat adenoid cystic cancer", "oropharynx adenoid cystic carcinoma"], "xref": ["GARD:0025310", "MEDGEN:235411", "NCIT:C6241", "SCTID:423318000", "UMLS:C1335139", "icd11.foundation:2053023791"]}
{"category": ["biolink:Disease"], "description": "A adenoma that involves the nipple.", "id": "MONDO:0021301", "name": "Adenoma of nipple", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of the nipple", "nipple adenoma", "papillomatosis, subareolar duct"], "xref": ["ICDO:8506/0", "MEDGEN:137752", "NCIT:C4192", "SCTID:302829009", "UMLS:C0334378"]}
{"category": ["biolink:Disease"], "description": "A adenoma that involves the small intestine.", "id": "MONDO:0021303", "name": "Adenoma of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma of small bowel", "adenoma of the small bowel", "adenoma of the small intestine", "small bowel adenoma", "small intestinal adenoma", "small intestine adenoma"], "xref": ["MEDGEN:226995", "NCIT:C5340", "SCTID:399422005", "UMLS:C1302392"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the endocervix.", "id": "MONDO:0021309", "name": "Malignant neoplasm of endocervix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of endocervix", "endocervix cancer", "malignant endocervical neoplasm", "malignant endocervical tumor", "malignant endocervical tumour", "malignant endocervix neoplasm", "malignant endocervix tumor", "malignant endocervix tumour", "malignant neoplasm of endocervix", "malignant neoplasm of the endocervix", "malignant neoplasm of the uterine endocervix", "malignant neoplasm of uterine endocervix", "malignant tumor of endocervix", "malignant tumor of the endocervix", "malignant tumor of the uterine endocervix", "malignant tumor of uterine endocervix", "malignant tumour of endocervix", "malignant tumour of the endocervix", "malignant tumour of the uterine endocervix", "malignant tumour of uterine endocervix", "malignant uterine endocervix neoplasm", "malignant uterine endocervix tumor", "malignant uterine endocervix tumour"], "xref": ["ICD10CM:C53.0", "ICD9:180.0", "MEDGEN:56309", "NCIT:C3553", "SCTID:372097009", "UMLS:C0153569"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the neck.", "id": "MONDO:0021310", "name": "Malignant tumor of neck", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of neck", "cancer of the neck", "malignant neck neoplasm", "malignant neck tumor", "malignant neck tumour", "malignant neoplasm of neck", "malignant neoplasm of the neck", "malignant tumor of the neck", "malignant tumour of the neck", "neck cancer"], "xref": ["MEDGEN:155434", "NCIT:C4940", "SCTID:363489000", "UMLS:C0746787"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the parathyroid gland.", "id": "MONDO:0021311", "name": "Malignant tumor of parathyroid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of parathyroid gland", "malignant neoplasm of parathyroid", "malignant neoplasm of parathyroid gland", "malignant neoplasm of the parathyroid", "malignant neoplasm of the parathyroid gland", "malignant parathyroid gland neoplasm", "malignant parathyroid gland tumor", "malignant parathyroid gland tumour", "malignant parathyroid neoplasm", "malignant parathyroid tumor", "malignant parathyroid tumour", "malignant tumor of parathyroid", "malignant tumor of the parathyroid", "malignant tumor of the parathyroid gland", "malignant tumour of parathyroid", "malignant tumour of the parathyroid", "malignant tumour of the parathyroid gland", "parathyroid cancer", "parathyroid gland cancer"], "xref": ["ICD10CM:C75.0", "ICD9:194.1", "MEDGEN:102283", "NCIT:C9322", "ONCOTREE:PTH", "SCTID:363481002", "UMLS:C0153653"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the adrenal cortex.", "id": "MONDO:0021312", "name": "Malignant tumor of adrenal cortex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal cortex cancer", "cancer of adrenal cortex", "malignant adrenal cortex neoplasm", "malignant adrenal cortex tumor", "malignant adrenal cortex tumour", "malignant adrenocortical neoplasm", "malignant adrenocortical tumor", "malignant adrenocortical tumour", "malignant neoplasm of adrenal cortex", "malignant neoplasm of the adrenal cortex", "malignant tumor of the adrenal cortex", "malignant tumour of the adrenal cortex"], "xref": ["GARD:0025311", "MEDGEN:83425", "NCIT:C9327", "SCTID:371964008", "UMLS:C0346402"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the eyelid.", "id": "MONDO:0021313", "name": "Eyelid cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of eyelid", "cancer of skin of eyelid", "eyelid cancer", "malignant eyelid neoplasm", "malignant eyelid tumor", "malignant eyelid tumour", "malignant neoplasm of eyelid", "malignant neoplasm of skin of eyelid", "malignant neoplasm of the eyelid", "malignant skin of eyelid neoplasm", "malignant tumor of eyelid", "malignant tumor of palpebral epidermis", "malignant tumour of the eyelid", "skin of eyelid cancer"], "xref": ["ICD9:173.1", "MEDGEN:501131", "NCIT:C6786", "Orphanet:98584", "SCTID:231829006", "SCTID:423425006", "UMLS:C1828015"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the nasopharynx.", "id": "MONDO:0021315", "name": "Malignant tumor of nasopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of nasopharynx", "malignant nasopharyngeal neoplasm", "malignant nasopharyngeal tumor", "malignant nasopharyngeal tumour", "malignant nasopharynx neoplasm", "malignant neoplasm of nasopharynx", "malignant neoplasm of the nasopharynx", "malignant tumor of the nasopharynx", "malignant tumour of the nasopharynx", "nasopharynx cancer"], "xref": ["ICD10CM:C11", "ICD9:147.8", "ICD9:147.9", "MEDGEN:56299", "NCIT:C9321", "SCTID:187692001", "UMLS:C0153392"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the minor salivary gland.", "id": "MONDO:0021316", "name": "Malignant tumor of minor salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of minor salivary gland", "malignant minor salivary gland neoplasm", "malignant minor salivary gland tumor", "malignant minor salivary gland tumour", "malignant neoplasm of minor salivary gland", "malignant neoplasm of the minor salivary gland", "malignant tumor of the minor salivary gland", "malignant tumour of the minor salivary gland"], "xref": ["GARD:0027886", "MEDGEN:91049", "NCIT:C4410", "SCTID:363485006", "UMLS:C0345614"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the cerebellum.", "id": "MONDO:0021317", "name": "Cancer of cerebellum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of cerebellum", "cancer of the cerebellum", "cerebellar cancer", "cerebellar neoplasm, malignant", "cerebellar tumor, malignant", "cerebellum cancer", "malignant cerebellar neoplasm", "malignant cerebellar neoplasms", "malignant cerebellar tumor", "malignant cerebellar tumour", "malignant cerebellum neoplasm", "malignant neoplasm of cerebellum", "malignant neoplasm of the cerebellum", "malignant tumor of cerebellum", "malignant tumor of the cerebellum", "malignant tumour of cerebellum", "malignant tumour of the cerebellum"], "xref": ["GARD:0027887", "ICD10CM:C71.6", "ICD9:191.6", "MEDGEN:57797", "NCIT:C3569", "SCTID:449420002", "UMLS:C0153640"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the mouth floor.", "id": "MONDO:0021320", "name": "Malignant tumor of floor of mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of mouth floor", "malignant floor of mouth neoplasm", "malignant floor of mouth tumor", "malignant floor of mouth tumour", "malignant floor of the mouth neoplasm", "malignant floor of the mouth tumor", "malignant floor of the mouth tumour", "malignant mouth floor neoplasm", "malignant neoplasm of floor of mouth", "malignant neoplasm of mouth floor", "malignant neoplasm of the floor of the mouth", "malignant tumor of the floor of the mouth", "malignant tumour of the floor of the mouth", "mouth floor cancer"], "xref": ["ICD10CM:C04", "ICD9:144.8", "ICD9:144.9", "MEDGEN:102264", "NCIT:C9318", "SCTID:363385007", "UMLS:C0153368", "icd11.foundation:359540510"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the extrahepatic bile duct.", "id": "MONDO:0021321", "name": "Malignant tumor of extrahepatic bile duct", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of extrahepatic bile duct", "malignant extrahepatic bile duct neoplasm", "malignant extrahepatic bile duct tumor", "malignant extrahepatic bile duct tumour", "malignant neoplasm of extrahepatic bile duct", "malignant neoplasm of the extrahepatic bile duct", "malignant tumor of the extrahepatic bile duct", "malignant tumour of the extrahepatic bile duct"], "xref": ["GARD:0025312", "ICD10CM:C24.0", "ICD9:156.1", "ICD9:156.8", "MEDGEN:56304", "NCIT:C7483", "SCTID:363416002", "UMLS:C0153453"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the meningeal cluster.", "id": "MONDO:0021322", "name": "Malignant tumor of meninges", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of meningeal cluster", "cancer of meninges", "cancer of the meninges", "malignant meningeal cluster neoplasm", "malignant meningeal neoplasms", "malignant meningeal tumor", "malignant meningeal tumour", "malignant meninges neoplasm", "malignant meninges tumor", "malignant meninges tumour", "malignant neoplasm of meningeal cluster", "malignant neoplasm of meninges", "malignant neoplasm of the meninges", "malignant neoplasms of meninges", "malignant tumor of the meninges", "malignant tumour of the meninges", "meningeal cancer", "meningeal cluster cancer", "meningeal tumors, malignant"], "xref": ["GARD:0025313", "ICD10CM:C70", "MEDGEN:87594", "NCIT:C4628", "SCTID:363497007", "UMLS:C0348375"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the chest wall.", "id": "MONDO:0021323", "name": "Malignant neoplasm of chest wall", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of chest wall", "chest wall cancer", "malignant chest wall neoplasm", "malignant chest wall tumor", "malignant chest wall tumour", "malignant neoplasm of chest wall", "malignant neoplasm of the chest wall", "malignant tumor of chest wall", "malignant tumor of the chest wall", "malignant tumour of chest wall", "malignant tumour of the chest wall"], "xref": ["MEDGEN:138070", "NCIT:C4580", "SCTID:712750007", "UMLS:C0346948"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the abdominal part of esophagus.", "id": "MONDO:0021324", "name": "Malignant neoplasm of abdominal esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["abdominal part of esophagus cancer", "abdominal part of oesophagus cancer", "cancer of abdominal part of esophagus", "cancer of abdominal part of oesophagus", "malignant abdominal part of esophagus neoplasm", "malignant abdominal part of oesophagus neoplasm", "malignant neoplasm of abdominal part of esophagus", "malignant neoplasm of abdominal part of oesophagus", "malignant neoplasm of the abdominal esophagus", "malignant neoplasm of the abdominal oesophagus", "malignant tumor of the abdominal esophagus", "malignant tumour of the abdominal oesophagus"], "xref": ["GARD:0027888", "ICD9:150.2", "MEDGEN:141675", "NCIT:C4764", "SCTID:187724003", "UMLS:C0496775"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the thoracic part of esophagus.", "id": "MONDO:0021325", "name": "Malignant neoplasm of thoracic esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of thoracic part of esophagus", "cancer of thoracic part of oesophagus", "malignant neoplasm of the thoracic esophagus", "malignant neoplasm of the thoracic oesophagus", "malignant neoplasm of thoracic part of esophagus", "malignant neoplasm of thoracic part of oesophagus", "malignant thoracic part of esophagus neoplasm", "malignant thoracic part of oesophagus neoplasm", "thoracic part of esophagus cancer", "thoracic part of oesophagus cancer"], "xref": ["GARD:0027889", "ICD9:150.1", "MEDGEN:102268", "NCIT:C3532", "SCTID:187723009", "UMLS:C0153411"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the cervical part of esophagus.", "id": "MONDO:0021326", "name": "Malignant neoplasm of cervical esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of cervical part of esophagus", "cancer of cervical part of oesophagus", "cervical part of esophagus cancer", "cervical part of oesophagus cancer", "malignant cervical part of esophagus neoplasm", "malignant cervical part of oesophagus neoplasm", "malignant neoplasm of cervical part of esophagus", "malignant neoplasm of cervical part of oesophagus", "malignant neoplasm of the cervical esophagus", "malignant neoplasm of the cervical oesophagus"], "xref": ["GARD:0027890", "ICD9:150.0", "MEDGEN:141674", "NCIT:C4763", "SCTID:187722004", "UMLS:C0496773"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the urethra.", "id": "MONDO:0021327", "name": "Carcinoma of urethra", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of the urethra", "carcinoma of urethra", "urethra carcinoma", "urethral cancer", "urethral carcinoma"], "xref": ["GARD:0027891", "MEDGEN:757195", "NCIT:C9106", "SCTID:448954003", "UMLS:C3164789"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.", "id": "MONDO:0021329", "name": "Carcinoma of soft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of soft palate", "carcinoma of the soft palate", "soft palate carcinoma"], "xref": ["GARD:0027892", "MEDGEN:87505", "NCIT:C8395", "SCTID:254435009", "UMLS:C0345555"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the parotid gland.", "id": "MONDO:0021331", "name": "Carcinoma of parotid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of parotid", "carcinoma of parotid gland", "carcinoma of the parotid", "carcinoma of the parotid gland", "parotid carcinoma", "parotid gland carcinoma"], "xref": ["EFO:1000460", "GARD:0027893", "MEDGEN:91047", "NCIT:C6791", "SCTID:254462001", "UMLS:C0345602"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the lip.", "id": "MONDO:0021333", "name": "Carcinoma of lip", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of lip", "carcinoma of the Lip", "lip carcinoma"], "xref": ["GARD:0027894", "MEDGEN:56195", "NCIT:C3490", "SCTID:269515006", "UMLS:C0149637"]}
{"category": ["biolink:Disease"], "description": "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.", "id": "MONDO:0021334", "name": "Immunoproliferative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["immunoproliferative disorder"], "xref": ["ICD9:203.80", "MEDGEN:7038", "MESH:D007160", "SCTID:127071007", "UMLS:C0021070"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the duodenum.", "id": "MONDO:0021335", "name": "Carcinoma of duodenum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of duodenum", "carcinoma of the duodenum", "duodenal carcinoma", "duodenum carcinoma"], "xref": ["GARD:0025314", "MEDGEN:107442", "NCIT:C4803", "SCTID:254570009", "UMLS:C0541912", "icd11.foundation:220022932"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the tonsil.", "id": "MONDO:0021337", "name": "Tonsil carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of the tonsil", "carcinoma of tonsil", "tonsil carcinoma", "tonsillar carcinoma"], "xref": ["GARD:0027895", "MEDGEN:107535", "NCIT:C4825", "SCTID:274085008", "UMLS:C0558355"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the hard palate.", "id": "MONDO:0021339", "name": "Carcinoma of hard palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of hard palate", "carcinoma of the hard palate", "hard palate carcinoma"], "xref": ["GARD:0027896", "MEDGEN:138019", "NCIT:C8394", "SCTID:254434008", "UMLS:C0345550"]}
{"category": ["biolink:Disease"], "description": "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.", "id": "MONDO:0021340", "name": "Intertrigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:695.89", "MEDGEN:43928", "MESH:D007402", "SCTID:58759008", "UMLS:C0021807"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the mouth floor.", "id": "MONDO:0021343", "name": "Carcinoma of floor of mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of mouth floor", "carcinoma of the floor of the mouth", "floor of mouth carcinoma", "floor of the mouth carcinoma", "mouth floor carcinoma"], "xref": ["MEDGEN:756825", "NCIT:C9319", "SCTID:449156009", "UMLS:C3164417"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the pharynx.", "id": "MONDO:0021345", "name": "Carcinoma of pharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of the pharynx", "carcinoma of pharynx", "carcinoma of the pharynx", "pharyngeal carcinoma", "pharyngeal throat cancer", "pharynx carcinoma"], "xref": ["MEDGEN:757152", "NCIT:C9466", "SCTID:449254004", "UMLS:C3164746"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the testis.", "id": "MONDO:0021348", "name": "Neoplasm of testis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of testis", "neoplasm of the testis", "testicular neoplasm", "testicular tumor", "testicular tumour", "testis neoplasm", "testis neoplasm (disease)", "testis tumor", "testis tumour", "tumor of testis", "tumor of the testis", "tumour of testis", "tumour of the testis"], "xref": ["ICD9:239.5", "MEDGEN:52675", "NCIT:C3404", "ONCOTREE:TESTIS", "SCTID:126900000", "UMLS:C0039590"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the thoracic segment of trunk.", "id": "MONDO:0021350", "name": "Neoplasm of thorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the thorax", "neoplasm of thoracic segment of trunk", "thoracic neoplasm", "thoracic segment of trunk neoplasm", "thoracic segment of trunk neoplasm (disease)", "thoracic segment of trunk tumor", "thoracic segment of trunk tumour", "thoracic tumor", "thoracic tumour", "tumor of the thorax", "tumor of thoracic segment of trunk", "tumor of thorax", "tumour of the thorax", "tumour of thoracic segment of trunk", "tumour of thorax"], "xref": ["ICD10CM:C30-C39", "ICD9:239.89", "MEDGEN:11793", "NCIT:C3406", "SCTID:255058005", "UMLS:C0039981"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the neck.", "id": "MONDO:0021351", "name": "Neoplasm of neck", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neck neoplasm", "neck neoplasm (disease)", "neck neoplasms (Including All pharyngeal related neoplasms)", "neck tumor", "neck tumour", "neoplasm of neck", "neoplasm of the neck", "tumor of neck", "tumor of the neck", "tumour of neck", "tumour of the neck"], "xref": ["ICD9:239.89", "MEDGEN:10279", "NCIT:C3260", "SCTID:126635000", "UMLS:C0027533"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the uterus.", "id": "MONDO:0021353", "name": "Tumor of uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of the uterus", "neoplasm of uterus", "tumor of the uterus", "tumor of uterus", "tumour of the uterus", "uterine neoplasm", "uterine neoplasms", "uterine tumor", "uterine tumour", "uterus neoplasm", "uterus neoplasm (disease)", "uterus tumor", "uterus tumour"], "xref": ["EFO:0003859", "ICD9:239.5", "MEDGEN:12030", "NCIT:C3435", "ONCOTREE:UTERUS", "SCTID:126908007", "UMLS:C0042138"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the adipose tissue.", "id": "MONDO:0021354", "name": "Tumor of adipose tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adipose tissue neoplasm", "adipose tissue neoplasm (disease)", "adipose tissue tumor", "adipose tissue tumour", "lipomatous neoplasm", "lipomatous tumor", "lipomatous tumour", "neoplasm of adipose tissue", "neoplasm of the adipose tissue", "tumor of adipose tissue", "tumor of the adipose tissue", "tumour of the adipose tissue"], "xref": ["ICD9:239.2", "MEDGEN:61646", "NCIT:C4248", "SCTID:254831005", "UMLS:C0206631"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the esophagus.", "id": "MONDO:0021355", "name": "Neoplasm of esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["esophageal neoplasm", "esophageal neoplasms, benign and malignant", "esophageal tumor", "esophageal tumors", "esophageal tumour", "esophageal tumours", "esophagus neoplasm", "esophagus neoplasm (disease)", "esophagus tumor", "neoplasm of esophagus", "neoplasm of the esophagus", "neoplasm of the oesophagus", "oesophagus neoplasm", "oesophagus neoplasm (disease)", "oesophagus tumour", "tumor of esophagus", "tumor of the esophagus", "tumour of oesophagus", "tumour of the oesophagus"], "xref": ["MEDGEN:4547", "NCIT:C3028", "SCTID:126817006", "UMLS:C0014859"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the saliva-secreting gland.", "id": "MONDO:0021357", "name": "Tumor of salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of saliva-secreting gland", "neoplasm of salivary gland", "neoplasm of the salivary gland", "saliva-secreting gland neoplasm", "saliva-secreting gland neoplasm (disease)", "saliva-secreting gland tumor", "saliva-secreting gland tumour", "salivary gland neoplasm", "salivary gland tumor", "salivary gland tumour", "tumor of saliva-secreting gland", "tumor of the salivary gland", "tumour of saliva-secreting gland", "tumour of the salivary gland"], "xref": ["EFO:1000384", "MEDGEN:20641", "NCIT:C3361", "SCTID:235132004", "UMLS:C0036095"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the hypopharynx.", "id": "MONDO:0021358", "name": "Neoplasm of hypopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypopharyngeal neoplasm", "hypopharyngeal neoplasms", "hypopharyngeal tumor", "hypopharyngeal tumour", "hypopharynx neoplasm", "hypopharynx neoplasm (disease)", "hypopharynx tumor", "hypopharynx tumour", "neoplasm of hypopharynx", "neoplasm of the hypopharynx", "tumor of hypopharynx", "tumor of the hypopharynx", "tumour of hypopharynx", "tumour of the hypopharynx"], "xref": ["MEDGEN:43797", "NCIT:C3127", "SCTID:126686005", "UMLS:C0020627"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the parathyroid gland.", "id": "MONDO:0021360", "name": "Tumor of parathyroid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of parathyroid", "neoplasm of parathyroid gland", "neoplasm of the parathyroid", "neoplasm of the parathyroid gland", "parathyroid gland neoplasm", "parathyroid gland neoplasm (disease)", "parathyroid gland tumor", "parathyroid gland tumour", "parathyroid neoplasm", "parathyroid tumor", "parathyroid tumour", "tumor of parathyroid", "tumor of parathyroid gland", "tumor of the parathyroid", "tumor of the parathyroid gland", "tumour of parathyroid", "tumour of the parathyroid", "tumour of the parathyroid gland"], "xref": ["ICD9:239.7", "MEDGEN:10586", "NCIT:C3313", "SCTID:127020005", "UMLS:C0030521"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the oropharynx.", "id": "MONDO:0021364", "name": "Neoplasm of oropharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of oropharynx", "neoplasm of the oropharynx", "oropharyngeal neoplasm", "oropharyngeal neoplasms", "oropharyngeal tumor", "oropharyngeal tumour", "oropharynx neoplasm", "oropharynx neoplasm (disease)", "oropharynx tumor", "oropharynx tumour", "tumor of oropharynx", "tumor of the oropharynx", "tumour of oropharynx", "tumour of the oropharynx"], "xref": ["MEDGEN:14519", "NCIT:C3291", "SCTID:126809003", "UMLS:C0029295"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the middle ear.", "id": "MONDO:0021366", "name": "Neoplasm of middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["middle Ear neoplasm", "middle Ear tumor", "middle Ear tumour", "middle ear neoplasm", "middle ear neoplasm (disease)", "middle ear tumor", "middle ear tumour", "neoplasm of middle ear", "neoplasm of the middle Ear", "tumor of middle Ear", "tumor of middle ear", "tumor of the middle Ear", "tumour of middle Ear", "tumour of middle ear", "tumour of the middle Ear"], "xref": ["ICD9:239.89", "MEDGEN:87509", "NCIT:C4412", "SCTID:127006003", "UMLS:C0345617"]}
{"category": ["biolink:Disease"], "description": "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.", "id": "MONDO:0021367", "name": "Leukemia, myeloid, accelerated-phase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025315", "MEDGEN:6059", "MESH:D015465", "NCIT:C3173", "UMLS:C0023472"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the major salivary gland.", "id": "MONDO:0021368", "name": "Neoplasm of major salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["major salivary gland neoplasm", "major salivary gland neoplasm (disease)", "major salivary gland tumor", "major salivary gland tumour", "neoplasm of major salivary gland", "neoplasm of the Major salivary gland", "tumor of Major salivary gland", "tumor of major salivary gland", "tumor of the Major salivary gland", "tumour of Major salivary gland", "tumour of major salivary gland", "tumour of the Major salivary gland"], "xref": ["MEDGEN:83383", "NCIT:C4407", "SCTID:126787005", "UMLS:C0345599"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the minor salivary gland.", "id": "MONDO:0021370", "name": "Neoplasm of minor salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["minor salivary gland neoplasm", "minor salivary gland neoplasm (disease)", "minor salivary gland tumor", "minor salivary gland tumour", "neoplasm of minor salivary gland", "neoplasm of the minor salivary gland", "tumor of minor salivary gland", "tumor of the minor salivary gland", "tumour of minor salivary gland", "tumour of the minor salivary gland"], "xref": ["MEDGEN:138022", "NCIT:C4409", "SCTID:126798006", "UMLS:C0345613"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the temporal lobe.", "id": "MONDO:0021372", "name": "Neoplasm of temporal lobe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of temporal lobe", "neoplasm of the temporal lobe", "temporal lobe neoplasm", "temporal lobe neoplasm (disease)", "temporal lobe tumor", "temporal lobe tumour", "tumor of temporal lobe", "tumor of the temporal lobe", "tumour of temporal lobe", "tumour of the temporal lobe"], "xref": ["MEDGEN:224731", "NCIT:C5567", "SCTID:126955002", "UMLS:C1263887"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the parietal lobe.", "id": "MONDO:0021373", "name": "Neoplasm of parietal lobe", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of parietal lobe", "neoplasm of the parietal lobe", "parietal lobe neoplasm", "parietal lobe neoplasm (disease)", "parietal lobe tumor", "parietal lobe tumour", "tumor of parietal lobe", "tumor of the parietal lobe", "tumour of parietal lobe", "tumour of the parietal lobe"], "xref": ["MEDGEN:266073", "NCIT:C5573", "SCTID:126956001", "UMLS:C1263888"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a cerebral hemisphere.", "id": "MONDO:0021374", "name": "Neoplasm of cerebral hemisphere", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebral hemisphere neoplasm", "cerebral hemisphere tumor", "cerebral hemisphere tumour", "cerebral hemispheric neoplasm", "cerebral hemispheric tumor", "cerebral hemispheric tumour", "cerebral neoplasm", "cerebral neoplasms", "cerebral tumor", "cerebral tumour", "neoplasm of cerebral hemisphere", "neoplasm of cerebral hemispheres", "neoplasm of cerebrum", "neoplasm of telencephalon", "neoplasm of the cerebral hemispheres", "neoplasm of the cerebrum", "telencephalon neoplasm (disease)", "telencephalon tumor", "telencephalon tumour", "tumor of cerebral hemisphere", "tumor of cerebral hemispheres", "tumor of cerebrum", "tumor of telencephalon", "tumor of the cerebral hemispheres", "tumor of the cerebrum", "tumour of cerebral hemisphere", "tumour of cerebral hemispheres", "tumour of cerebrum", "tumour of telencephalon", "tumour of the cerebral hemispheres", "tumour of the cerebrum"], "xref": ["MEDGEN:224729", "NCIT:C4874", "SCTID:126953009", "UMLS:C1263885"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the duodenum.", "id": "MONDO:0021375", "name": "Tumor of duodenum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["duodenal neoplasm", "duodenal tumor", "duodenal tumour", "duodenum neoplasm", "duodenum neoplasm (disease)", "duodenum tumor", "duodenum tumour", "neoplasm of duodenum", "neoplasm of the duodenum", "tumor of duodenum", "tumor of the duodenum", "tumour of the duodenum"], "xref": ["MEDGEN:8503", "NCIT:C2995", "SCTID:126833009", "UMLS:C0013291"]}
{"category": ["biolink:Disease"], "description": "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.", "id": "MONDO:0021377", "name": "Hypertrophic lichen planus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertrophic lichen planus"], "xref": ["ICD10CM:L43.0", "MEDGEN:9756", "NCIT:C34779", "SCTID:68266006", "UMLS:C0023649", "icd11.foundation:1096967508"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the endocardium.", "id": "MONDO:0021378", "name": "Neoplasm of endocardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endocardial neoplasm", "endocardial tumor", "endocardial tumour", "endocardium neoplasm", "endocardium neoplasm (disease)", "endocardium tumor", "endocardium tumour", "neoplasm of endocardium", "neoplasm of the endocardium", "tumor of endocardium", "tumor of the endocardium", "tumour of endocardium", "tumour of the endocardium"], "xref": ["GARD:0027897", "ICD9:239.89", "MEDGEN:220938", "NCIT:C5346", "SCTID:126731002", "UMLS:C1290401"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the epicardium.", "id": "MONDO:0021379", "name": "Neoplasm of epicardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["epicardial neoplasm", "epicardial tumor", "epicardial tumour", "epicardium neoplasm", "epicardium neoplasm (disease)", "epicardium tumor", "epicardium tumour", "neoplasm of epicardium", "neoplasm of the epicardium", "tumor of epicardium", "tumor of the epicardium", "tumour of epicardium", "tumour of the epicardium"], "xref": ["GARD:0027898", "ICD9:239.89", "MEDGEN:224850", "NCIT:C5347", "SCTID:126733004", "UMLS:C1290403"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the myocardium.", "id": "MONDO:0021380", "name": "Neoplasm of myocardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myocardial neoplasm", "myocardial tumor", "myocardial tumour", "myocardium neoplasm", "myocardium neoplasm (disease)", "myocardium tumor", "myocardium tumour", "neoplasm of myocardium", "neoplasm of the myocardium", "tumor of myocardium", "tumor of the myocardium", "tumour of myocardium", "tumour of the myocardium"], "xref": ["GARD:0027899", "ICD9:239.89", "MEDGEN:266216", "NCIT:C5349", "SCTID:126732009", "UMLS:C1290402"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the pericardium.", "id": "MONDO:0021381", "name": "Neoplasm of pericardium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pericardium", "neoplasm of the pericardium", "pericardial neoplasm", "pericardial tumor", "pericardial tumour", "pericardium neoplasm", "pericardium neoplasm (disease)", "pericardium tumor", "pericardium tumour", "tumor of pericardium", "tumor of the pericardium", "tumour of pericardium", "tumour of the pericardium"], "xref": ["ICD9:239.89", "MEDGEN:91156", "NCIT:C4651", "SCTID:126734005", "UMLS:C0349574"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the mouth floor.", "id": "MONDO:0021383", "name": "Neoplasm of floor of mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["floor of mouth neoplasm", "floor of mouth tumor", "floor of mouth tumour", "floor of the mouth neoplasm", "floor of the mouth tumor", "floor of the mouth tumour", "mouth floor neoplasm", "mouth floor neoplasm (disease)", "mouth floor tumor", "mouth floor tumour", "neoplasm of mouth floor", "neoplasm of the floor of the mouth", "tumor of floor of mouth", "tumor of mouth floor", "tumor of the floor of the mouth", "tumour of floor of mouth", "tumour of mouth floor", "tumour of the floor of the mouth"], "xref": ["MEDGEN:91045", "NCIT:C4401", "SCTID:126799003", "UMLS:C0345538"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.", "id": "MONDO:0021385", "name": "Extrahepatic bile duct neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["extrahepatic bile duct neoplasm", "extrahepatic bile duct neoplasm (disease)", "extrahepatic bile duct tumor", "extrahepatic bile duct tumour", "neoplasm of extrahepatic bile duct", "neoplasm of the extrahepatic bile duct", "tumor of extrahepatic bile duct", "tumor of the extrahepatic bile duct", "tumour of extrahepatic bile duct", "tumour of the extrahepatic bile duct"], "xref": ["MEDGEN:91056", "NCIT:C4441", "SCTID:126855001", "UMLS:C0345913"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the mediastinum.", "id": "MONDO:0021386", "name": "Neoplasm of mediastinum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mediastinal neoplasm", "mediastinal tumor", "mediastinal tumour", "mediastinum neoplasm", "mediastinum neoplasm (disease)", "mediastinum tumor", "mediastinum tumour", "neoplasm of mediastinum", "neoplasm of the mediastinum", "tumor of mediastinum", "tumor of the mediastinum", "tumour of mediastinum", "tumour of the mediastinum"], "xref": ["ICD9:239.89", "MEDGEN:44322", "NCIT:C3221", "SCTID:126725000", "UMLS:C0025063"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the chest wall.", "id": "MONDO:0021388", "name": "Neoplasm of chest wall", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chest wall neoplasm", "chest wall neoplasm (disease)", "chest wall tumor", "chest wall tumour", "neoplasm of chest wall", "neoplasm of the chest wall", "tumor of chest wall", "tumor of the chest wall", "tumour of chest wall", "tumour of the chest wall"], "xref": ["ICD9:239.89", "MEDGEN:220935", "NCIT:C4929", "SCTID:126640008", "UMLS:C1290309"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.", "id": "MONDO:0021389", "name": "Neoplasm of aortic body", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["aortic body neoplasm", "aortic body neoplasm (disease)", "aortic body paraganglioma", "aortic body tumor", "aortic body tumour", "aorticopulmonary paraganglioma", "neoplasm of aortic body", "neoplasm of the aortic body", "paraganglioma of aortic body", "paraganglioma of the aortic body", "tumor of aortic body", "tumor of the aortic body", "tumour of aortic body", "tumour of the aortic body"], "xref": ["GARD:0025316", "ICD9:239.7", "ICDO:8691/1", "MEDGEN:87236", "NCIT:C4218", "SCTID:127029006", "UMLS:C0334417"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the ureter.", "id": "MONDO:0021390", "name": "Polyp of ureter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyp of the ureter", "ureter polyp", "ureteral polyp"], "xref": ["ICD9:593.89", "MEDGEN:138051", "NCIT:C4530", "SCTID:197821004", "UMLS:C0346269", "icd11.foundation:134277787"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the large intestine.", "id": "MONDO:0021392", "name": "Polyp of large intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal polyp", "large bowel polyp", "large intestine polyp", "polyp of large bowel", "polyp of the large bowel", "polyp of the large intestine"], "xref": ["MEDGEN:182694", "NCIT:C5679", "SCTID:399505005", "UMLS:C0949059", "icd11.foundation:537826614"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the vagina.", "id": "MONDO:0021394", "name": "Polyp of vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyp of the vagina", "polyp, vaginal, benign", "vagina polyp", "vaginal polyp"], "xref": ["ICD10CM:N84.2", "ICD9:623.7", "MEDGEN:56378", "NCIT:C3664", "SCTID:29609001", "UMLS:C0156390", "icd11.foundation:1664143745"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the mammalian vulva.", "id": "MONDO:0021396", "name": "Polyp of vulva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva polyp", "polyp of the vulva", "vulva polyp", "vulvar polyp"], "xref": ["ICD10CM:N84.3", "ICD9:624.6", "MEDGEN:124351", "NCIT:C3978", "SCTID:57158005", "UMLS:C0269218", "icd11.foundation:108731413"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the rectum.", "id": "MONDO:0021398", "name": "Polyp of rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyp of the rectum", "rectal polyp", "rectum polyp"], "xref": ["ICD10CM:K62.1", "MEDGEN:11150", "NCIT:C3351", "SCTID:39772007", "UMLS:C0034887", "icd11.foundation:2101432719"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the colon.", "id": "MONDO:0021400", "name": "Polyp of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colon polyp", "colonic polyp", "polyp of the colon"], "xref": ["ICD10CM:K63.5", "MEDGEN:3166", "MESH:D003111", "NCIT:C2954", "SCTID:68496003", "UMLS:C0009376", "icd11.foundation:1408488915"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the external acoustic meatus.", "id": "MONDO:0021402", "name": "Polyp of external auditory canal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["external Ear polyp", "external acoustic meatus polyp", "external auditory canal polyp", "polyp of the external auditory canal"], "xref": ["MEDGEN:87394", "NCIT:C4366", "SCTID:95211004", "UMLS:C0339765"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the sphenoidal sinus.", "id": "MONDO:0021404", "name": "Polyp of sphenoidal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["polyp of sphenoid sinus", "polyp of the sphenoid sinus", "polyp of the sphenoidal sinus", "sphenoid sinus polyp", "sphenoidal sinus polyp"], "xref": ["ICD9:471.8", "MEDGEN:75538", "NCIT:C3933", "SCTID:90685008", "UMLS:C0264255"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the frontal sinus.", "id": "MONDO:0021408", "name": "Polyp of frontal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["frontal sinus polyp", "polyp of the frontal sinus"], "xref": ["ICD9:471.8", "MEDGEN:137927", "NCIT:C4367", "SCTID:195759002", "UMLS:C0339814", "icd11.foundation:1462900314"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the maxillary sinus.", "id": "MONDO:0021412", "name": "Polyp of maxillary sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["maxillary antral polyp", "maxillary sinus polyp", "polyp of the maxillary sinus"], "xref": ["ICD9:471.8", "MEDGEN:120498", "NCIT:C3931", "SCTID:29074008", "UMLS:C0264239"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the gall bladder.", "id": "MONDO:0021416", "name": "Polyp of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["gall bladder polyp", "gallbladder polyp", "polyp of the gallbladder"], "xref": ["MEDGEN:120463", "NCIT:C3909", "SCTID:197433003", "UMLS:C0262493", "icd11.foundation:839854600"]}
{"category": ["biolink:Disease"], "description": "A polyp that involves the ethmoid sinus.", "id": "MONDO:0021418", "name": "Polyp of ethmoidal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ethmoid sinus polyp", "ethmoidal polyp", "ethmoidal sinus polyp", "polyp of ethmoid sinus", "polyp of the ethmoid sinus", "polyp of the ethmoidal sinus"], "xref": ["ICD9:471.8", "MEDGEN:82675", "NCIT:C3932", "SCTID:23966000", "UMLS:C0264248"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.", "id": "MONDO:0021420", "name": "Polyp of vocal cord", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["laryngeal vocal fold polyp", "polyp of the vocal cord", "vocal cord polyp"], "xref": ["EFO:0009478", "MEDGEN:21887", "NCIT:C3440", "SCTID:9078005", "UMLS:C0042929", "icd11.foundation:1351291002"]}
{"category": ["biolink:Disease"], "description": "A hemangiopericytoma that involves the zone of skin.", "id": "MONDO:0021424", "name": "Hemangiopericytoma of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemangiopericytoma of the skin", "skin hemangiopericytoma", "zone of skin hemangiopericytoma"], "xref": ["MEDGEN:91081", "NCIT:C4492", "SCTID:254796009", "UMLS:C0346084"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the lip.", "id": "MONDO:0021427", "name": "Squamous cell carcinoma of lip", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lip scc", "lip squamous cell carcinoma", "scc of Lip", "scc of the Lip", "squamous cell carcinoma of the Lip"], "xref": ["GARD:0017933", "MEDGEN:79099", "NCIT:C4042", "Orphanet:502366", "SCTID:255071008", "UMLS:C0280302", "icd11.foundation:1635251327"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the mouth floor.", "id": "MONDO:0021429", "name": "Squamous cell carcinoma of floor of mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["floor of mouth scc", "floor of mouth squamous cell carcinoma", "mouth floor squamous cell carcinoma", "scc of floor of mouth", "scc of the floor of mouth", "squamous cell carcinoma of the floor of mouth"], "xref": ["GARD:0025317", "MEDGEN:124715", "NCIT:C4041", "SCTID:276954004", "UMLS:C0280300", "icd11.foundation:755941113"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the buccal mucosa.", "id": "MONDO:0021431", "name": "Squamous cell carcinoma of buccal mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["buccal mucosa squamous cell carcinoma", "scc of buccal mucosa", "scc of the buccal mucosa", "squamous cell carcinoma of the buccal mucosa"], "xref": ["GARD:0025318", "MEDGEN:83627", "NCIT:C4040", "SCTID:254437001", "UMLS:C0280299"]}
{"category": ["biolink:Disease"], "description": "A lipoma that involves the stomach.", "id": "MONDO:0021437", "name": "Lipoma of stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gastric lipoma", "lipoma of the stomach", "stomach lipoma"], "xref": ["MEDGEN:234299", "NCIT:C5258", "SCTID:695751021000132104", "UMLS:C1333777"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the pituitary gland.", "id": "MONDO:0021439", "name": "Benign neoplasm of pituitary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign neoplasm of pituitary", "benign neoplasm of the pituitary", "benign neoplasm of the pituitary gland", "benign pituitary gland neoplasm", "benign pituitary gland tumor", "benign pituitary gland tumour", "benign pituitary neoplasm", "benign pituitary tumor", "benign pituitary tumour", "benign tumor of pituitary", "benign tumor of pituitary gland", "benign tumor of the pituitary", "benign tumor of the pituitary gland", "benign tumour of pituitary", "benign tumour of pituitary gland", "benign tumour of the pituitary", "benign tumour of the pituitary gland", "pituitary gland benign neoplasm", "pituitary neoplasms, benign", "pituitary tumor, benign"], "xref": ["DOID:60009", "GARD:0025319", "ICD10CM:D35.2", "MEDGEN:141679", "NCIT:C4782", "SCTID:92296004", "UMLS:C0496901", "icd11.foundation:1871539651"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the zone of skin.", "id": "MONDO:0021440", "name": "Benign neoplasm of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign cutaneous neoplasm", "benign cutaneous tumor", "benign cutaneous tumour", "benign neoplasm of the skin", "benign skin neoplasm", "benign skin tumor", "benign skin tumour", "benign tumor of skin", "benign tumor of the skin", "benign tumour of skin", "benign tumour of the skin", "skin neoplasms, benign", "zone of skin benign neoplasm"], "xref": ["ICD9:216.8", "ICD9:216.9", "MEDGEN:2197", "NCIT:C2896", "SCTID:92384009", "UMLS:C0004998"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the exocrine pancreas.", "id": "MONDO:0021441", "name": "Benign neoplasm of exocrine pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign exocrine pancreas tumor", "benign exocrine pancreas tumour", "benign exocrine pancreatic neoplasm", "benign neoplasm of the exocrine pancreas", "benign tumor of exocrine pancreas", "benign tumor of the exocrine pancreas", "benign tumour of exocrine pancreas", "benign tumour of the exocrine pancreas", "exocrine pancreas benign neoplasm"], "xref": ["DOID:0080781", "MEDGEN:138080", "NCIT:C4613", "SCTID:271956003", "UMLS:C0347285"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the lymph node.", "id": "MONDO:0021443", "name": "Benign neoplasm of lymph node", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign lymph node neoplasm", "benign lymph node tumor", "benign lymph node tumour", "benign neoplasm of the lymph node", "benign tumor of lymph node", "benign tumor of the lymph node", "benign tumour of lymph node", "benign tumour of the lymph node", "lymph node benign neoplasm"], "xref": ["DOID:0080617", "GARD:0025320", "ICD9:229.0", "MEDGEN:57815", "NCIT:C3636", "SCTID:92197001", "UMLS:C0154054"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the large intestine.", "id": "MONDO:0021444", "name": "Benign neoplasm of large intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign colorectal neoplasm", "benign colorectal neoplasms", "benign colorectal tumor", "benign colorectal tumors", "benign colorectal tumour", "benign colorectal tumours", "benign large bowel neoplasm", "benign large bowel tumor", "benign large bowel tumour", "benign large intestine neoplasm", "benign large intestine tumor", "benign large intestine tumour", "benign neoplasm of large bowel", "benign neoplasm of the large bowel", "benign neoplasm of the large intestine", "benign tumor of large bowel", "benign tumor of large intestine", "benign tumor of the large bowel", "benign tumor of the large intestine", "benign tumour of large bowel", "benign tumour of large intestine", "benign tumour of the large bowel", "benign tumour of the large intestine", "colorectal neoplasms, benign", "colorectal tumors, benign", "large intestine benign neoplasm", "neoplasms, colorectal, benign", "tumors, colorectal, benign"], "xref": ["MEDGEN:91125", "NCIT:C4610", "SCTID:92170008", "UMLS:C0347272", "icd11.foundation:477388501"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the oral cavity.", "id": "MONDO:0021445", "name": "Benign neoplasm of oral cavity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign mouth neoplasm", "benign mouth tumor", "benign mouth tumour", "benign neoplasm of mouth", "benign neoplasm of the mouth", "benign neoplasm of the oral cavity", "benign oral cavity neoplasm", "benign oral cavity tumor", "benign oral cavity tumour", "benign tumor of mouth", "benign tumor of oral cavity", "benign tumor of the mouth", "benign tumor of the oral cavity", "benign tumour of mouth", "benign tumour of oral cavity", "benign tumour of the mouth", "benign tumour of the oral cavity", "oral cavity benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:91119", "NCIT:C7607", "SCTID:419645003", "UMLS:C0347197"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the epiglottis.", "id": "MONDO:0021446", "name": "Benign neoplasm of epiglottis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Epiglottis neoplasm", "benign Epiglottis tumor", "benign Epiglottis tumour", "benign epiglottic neoplasm", "benign epiglottic tumor", "benign epiglottic tumour", "benign neoplasm of the Epiglottis", "benign tumor of Epiglottis", "benign tumor of the Epiglottis", "benign tumour of Epiglottis", "benign tumour of the Epiglottis", "epiglottis benign neoplasm"], "xref": ["MEDGEN:83861", "NCIT:C4606", "SCTID:92089006", "UMLS:C0347236", "icd11.foundation:1549564600"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the testis.", "id": "MONDO:0021447", "name": "Benign neoplasm of testis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the testis", "benign testicular neoplasm", "benign testicular tumor", "benign testicular tumour", "benign tumor of testis", "benign tumor of the testis", "benign tumour of testis", "benign tumour of the testis", "testis benign neoplasm"], "xref": ["ICD10CM:D29.2", "ICD9:222.0", "MEDGEN:57576", "NCIT:C3612", "SCTID:92428008", "UMLS:C0154007", "icd11.foundation:815021426"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the stomach.", "id": "MONDO:0021449", "name": "Benign neoplasm of stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign gastric neoplasm", "benign gastric tumor", "benign gastric tumors", "benign gastric tumour", "benign gastric tumours", "benign neoplasm of the stomach", "benign stomach neoplasms", "benign stomach tumors", "benign stomach tumours", "benign tumor of stomach", "benign tumor of the stomach", "benign tumors of stomach", "benign tumors of the stomach", "benign tumour of stomach", "benign tumour of the stomach", "benign tumours of stomach", "benign tumours of the stomach", "gastric neoplasms, benign", "gastric tumors, benign", "stomach benign neoplasm", "stomach neoplasms, benign", "stomach tumors, benign"], "xref": ["ICD10CM:D13.1", "ICD9:211.1", "MEDGEN:57805", "NCIT:C3599", "SCTID:92411005", "UMLS:C0153943", "icd11.foundation:479576735"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the heart.", "id": "MONDO:0021450", "name": "Benign neoplasm of heart", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign Cardiac neoplasm", "benign Cardiac tumor", "benign Cardiac tumour", "benign heart neoplasm", "benign heart tumor", "benign heart tumour", "benign neoplasm of the heart", "benign tumor of heart", "benign tumor of the heart", "benign tumour of heart", "benign tumour of the heart", "heart benign neoplasm"], "xref": ["GARD:0027900", "ICD10CM:D15.1", "ICD9:212.7", "MEDGEN:57807", "NCIT:C3605", "SCTID:92132009", "UMLS:C0153957", "icd11.foundation:991198048"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the brain.", "id": "MONDO:0021451", "name": "Benign neoplasm of brain", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign brain neoplasm", "benign brain tumor", "benign brain tumour", "benign neoplasm of the brain", "benign tumor of brain", "benign tumor of the brain", "benign tumour of brain", "benign tumour of the brain", "brain benign neoplasm", "brain neoplasms, benign"], "xref": ["EFO:1000107", "ICD9:225.0", "MEDGEN:99225", "NCIT:C4781", "SCTID:92030004", "UMLS:C0496899"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the cornea.", "id": "MONDO:0021452", "name": "Benign neoplasm of cornea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cornea neoplasm", "benign cornea tumor", "benign cornea tumour", "benign corneal neoplasm", "benign corneal tumor", "benign corneal tumour", "benign neoplasm of the cornea", "benign tumor of cornea", "benign tumor of the cornea", "benign tumour of cornea", "benign tumour of the cornea", "cornea benign neoplasm"], "xref": ["ICD10CM:D31.1", "ICD9:224.4", "MEDGEN:57579", "NCIT:C3623", "SCTID:92070006", "UMLS:C0154026", "icd11.foundation:568257604"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the retina.", "id": "MONDO:0021453", "name": "Benign neoplasm of retina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the retina", "benign retina neoplasm", "benign retina tumor", "benign retina tumour", "benign retinal neoplasm", "benign retinal tumor", "benign retinal tumour", "benign tumor of retina", "benign tumor of the retina", "benign tumour of retina", "benign tumour of the retina", "retina benign neoplasm"], "xref": ["ICD10CM:D31.2", "ICD9:224.5", "MEDGEN:57580", "NCIT:C3624", "SCTID:92321003", "UMLS:C0154027", "icd11.foundation:1433648317"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the eye.", "id": "MONDO:0021454", "name": "Benign neoplasm of eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign eye neoplasm", "benign eye tumor", "benign eye tumour", "benign neoplasm of the eye", "benign ocular neoplasm", "benign ocular tumor", "benign ocular tumour", "benign tumor of eye", "benign tumor of the eye", "benign tumour of eye", "benign tumour of the eye", "eye benign neoplasm"], "xref": ["ICD9:224.0", "ICD9:224.8", "ICD9:224.9", "MEDGEN:401267", "NCIT:C4780", "SCTID:92097004", "UMLS:C1867616"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the neck.", "id": "MONDO:0021455", "name": "Benign neoplasm of neck", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neck neoplasm", "benign neck tumor", "benign neck tumour", "benign neoplasm of the neck", "benign tumor of neck", "benign tumor of the neck", "benign tumour of neck", "benign tumour of the neck", "neck benign neoplasm"], "xref": ["ICD9:229.8", "MEDGEN:195775", "NCIT:C4884", "SCTID:92246000", "UMLS:C0684815"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the sternum.", "id": "MONDO:0021456", "name": "Benign neoplasm of sternum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the sternum", "benign sternal neoplasm", "benign sternal tumor", "benign sternal tumour", "benign tumor of sternum", "benign tumor of the sternum", "benign tumour of sternum", "benign tumour of the sternum", "sternum benign neoplasm"], "xref": ["MEDGEN:87573", "NCIT:C8416", "SCTID:92410006", "UMLS:C0347312"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the pleura.", "id": "MONDO:0021457", "name": "Benign neoplasm of pleura", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the pleura", "benign pleural neoplasm", "benign pleural tumor", "benign pleural tumour", "benign tumor of pleura", "benign tumor of the pleura", "benign tumour of pleura", "benign tumour of the pleura", "pleura benign neoplasm"], "xref": ["ICD9:212.4", "MEDGEN:57806", "NCIT:C3603", "SCTID:92298003", "UMLS:C0153955", "icd11.foundation:2142393865"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the penis.", "id": "MONDO:0021458", "name": "Benign neoplasm of penis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the penis", "benign penile neoplasm", "benign penile tumor", "benign penile tumour", "benign tumor of penis", "benign tumor of the penis", "benign tumour of penis", "benign tumour of the penis", "penis benign neoplasm"], "xref": ["ICD10CM:D29.0", "ICD9:222.1", "MEDGEN:57435", "NCIT:C3489", "SCTID:92286008", "UMLS:C0149627", "icd11.foundation:561160219"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the esophagus.", "id": "MONDO:0021459", "name": "Benign neoplasm of esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign esophageal neoplasm", "benign esophageal tumor", "benign esophageal tumour", "benign esophagus neoplasm", "benign esophagus tumor", "benign neoplasm of the esophagus", "benign neoplasm of the oesophagus", "benign oesophagus neoplasm", "benign oesophagus tumour", "benign tumor of esophagus", "benign tumor of the esophagus", "benign tumour of oesophagus", "benign tumour of the oesophagus", "esophagus benign neoplasm", "oesophagus benign neoplasm"], "xref": ["ICD10CM:D13.0", "ICD9:211.0", "MEDGEN:102297", "NCIT:C3598", "SCTID:92091003", "UMLS:C0153942", "icd11.foundation:1827459816"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the saliva-secreting gland.", "id": "MONDO:0021460", "name": "Benign neoplasm of salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the salivary gland", "benign salivary gland neoplasm", "benign salivary gland tumor", "benign salivary gland tumour", "benign tumor of salivary gland", "benign tumor of the salivary gland", "benign tumour of salivary gland", "benign tumour of the salivary gland", "saliva-secreting gland benign neoplasm", "salivary gland neoplasm, benign"], "xref": ["MEDGEN:83857", "NCIT:C4600", "SCTID:255154009", "UMLS:C0347206"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the hypopharynx.", "id": "MONDO:0021461", "name": "Benign neoplasm of hypopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign hypopharyngeal neoplasm", "benign hypopharyngeal tumor", "benign hypopharyngeal tumour", "benign neoplasm of the hypopharynx", "benign tumor of hypopharynx", "benign tumor of the hypopharynx", "benign tumour of hypopharynx", "benign tumour of the hypopharynx", "hypopharyngeal neoplasm, benign", "hypopharynx benign neoplasm"], "xref": ["ICD10CM:D10.7", "ICD9:210.8", "MEDGEN:57575", "NCIT:C3596", "SCTID:92139000", "UMLS:C0153939", "icd11.foundation:196557985"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the rectum.", "id": "MONDO:0021462", "name": "Benign neoplasm of rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the rectum", "benign rectal neoplasm", "benign rectal neoplasms", "benign rectal tumor", "benign rectal tumors", "benign rectal tumour", "benign rectal tumours", "benign tumor of rectum", "benign tumor of the rectum", "benign tumour of rectum", "benign tumour of the rectum", "rectal neoplasms, benign", "rectal tumors, benign", "rectum benign neoplasm"], "xref": ["ICD10CM:D12.8", "MEDGEN:99222", "NCIT:C4774", "SCTID:92318000", "UMLS:C0496867", "icd11.foundation:1805730142"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the parathyroid gland.", "id": "MONDO:0021463", "name": "Benign neoplasm of parathyroid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of parathyroid", "benign neoplasm of the parathyroid", "benign neoplasm of the parathyroid gland", "benign parathyroid gland neoplasm", "benign parathyroid gland tumor", "benign parathyroid gland tumour", "benign parathyroid neoplasm", "benign parathyroid tumor", "benign parathyroid tumour", "benign tumor of parathyroid", "benign tumor of parathyroid gland", "benign tumor of the parathyroid", "benign tumor of the parathyroid gland", "benign tumour of parathyroid", "benign tumour of parathyroid gland", "benign tumour of the parathyroid", "benign tumour of the parathyroid gland", "parathyroid gland benign neoplasm", "parathyroid tumor benign", "parathyroid tumour benign"], "xref": ["DOID:60008", "ICD10CM:D35.1", "ICD9:227.1", "MEDGEN:57814", "NCIT:C3630", "SCTID:92272009", "UMLS:C0154041", "icd11.foundation:455097662"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the caecum.", "id": "MONDO:0021464", "name": "Benign neoplasm of cecum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cecum neoplasm", "benign cecum tumor", "benign cecum tumour", "benign neoplasm of the cecum", "benign tumor of cecum", "benign tumor of the cecum", "benign tumour of cecum", "benign tumour of the cecum", "caecum benign neoplasm"], "xref": ["ICD10CM:D12.0", "MEDGEN:105420", "NCIT:C4772", "SCTID:92040001", "UMLS:C0496859", "icd11.foundation:1697040268"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the vermiform appendix.", "id": "MONDO:0021465", "name": "Benign neoplasm of appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign appendix neoplasm", "benign appendix tumor", "benign appendix tumour", "benign neoplasm of the appendix", "benign tumor of appendix", "benign tumor of the appendix", "benign tumour of appendix", "benign tumour of the appendix", "vermiform appendix benign neoplasm"], "xref": ["GARD:0027361", "ICD10CM:D12.1", "MEDGEN:99221", "NCIT:C4773", "SCTID:91981009", "UMLS:C0496860", "icd11.foundation:7146014"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the renal pelvis.", "id": "MONDO:0021467", "name": "Benign neoplasm of renal pelvis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign kidney pelvis neoplasm", "benign neoplasm of the renal pelvis", "benign renal pelvis neoplasm", "benign renal pelvis tumor", "benign renal pelvis tumour", "benign tumor of renal pelvis", "benign tumor of the renal pelvis", "benign tumour of renal pelvis", "benign tumour of the renal pelvis", "renal pelvis benign neoplasm"], "xref": ["ICD10CM:D30.1", "ICD9:223.1", "MEDGEN:56327", "NCIT:C3616", "SCTID:92319008", "UMLS:C0154015", "icd11.foundation:1025909955"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the adrenal medulla.", "id": "MONDO:0021468", "name": "Benign neoplasm of adrenal medulla", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adrenal medulla benign neoplasm", "benign adrenal medulla neoplasm", "benign adrenal medulla tumor", "benign adrenal medulla tumour", "benign neoplasm of the adrenal medulla", "benign tumor of adrenal medulla", "benign tumor of the adrenal medulla", "benign tumour of adrenal medulla", "benign tumour of the adrenal medulla"], "xref": ["GARD:0025321", "MEDGEN:151941", "NCIT:C4895", "SCTID:91968002", "UMLS:C0686512", "icd11.foundation:1573786673"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the anus.", "id": "MONDO:0021469", "name": "Benign neoplasm of anus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anus benign neoplasm", "benign anal neoplasm", "benign anal tumor", "benign anal tumour", "benign neoplasm of the anus", "benign tumor of anus", "benign tumor of the anus", "benign tumour of anus", "benign tumour of the anus"], "xref": ["MEDGEN:83864", "NCIT:C4611", "SCTID:91978004", "UMLS:C0347276"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the pancreas.", "id": "MONDO:0021470", "name": "Benign neoplasm of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the pancreas", "benign pancreas neoplasm", "benign pancreas tumor", "benign pancreas tumour", "benign pancreatic neoplasm", "benign pancreatic tumor", "benign pancreatic tumour", "benign tumor of pancreas", "benign tumor of the pancreas", "benign tumour of pancreas", "benign tumour of the pancreas", "pancreas benign neoplasm", "pancreas neoplasm, benign", "pancreas tumor, benign", "pancreatic neoplasm, benign", "pancreatic tumor, benign"], "xref": ["ICD10CM:D13.6", "MEDGEN:91126", "NCIT:C4612", "SCTID:92264007", "UMLS:C0347284", "icd11.foundation:1870352651"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the endometrium.", "id": "MONDO:0021471", "name": "Benign neoplasm of endometrium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign endometrial neoplasm", "benign endometrial tumor", "benign endometrial tumour", "benign endometrium neoplasm", "benign endometrium tumor", "benign endometrium tumour", "benign neoplasm of the endometrium", "benign tumor of endometrium", "benign tumor of the endometrium", "benign tumour of endometrium", "benign tumour of the endometrium", "endometrium benign neoplasm"], "xref": ["MEDGEN:146349", "NCIT:C4894", "SCTID:92086004", "UMLS:C0686239"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the scrotum.", "id": "MONDO:0021472", "name": "Benign neoplasm of scrotum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the scrotum", "benign scrotal neoplasm", "benign scrotal tumor", "benign scrotal tumour", "benign tumor of scrotum", "benign tumor of the scrotum", "benign tumour of scrotum", "benign tumour of the scrotum", "scrotum benign neoplasm"], "xref": ["ICD10CM:D29.4", "ICD9:222.4", "MEDGEN:102302", "NCIT:C3615", "SCTID:92336000", "UMLS:C0154011", "icd11.foundation:640770928"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the epididymis.", "id": "MONDO:0021473", "name": "Benign neoplasm of epididymis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign epididymal neoplasm", "benign epididymal tumor", "benign epididymal tumour", "benign neoplasm of the epididymis", "benign tumor of epididymis", "benign tumor of the epididymis", "benign tumour of epididymis", "benign tumour of the epididymis", "epididymis benign neoplasm"], "xref": ["ICD10CM:D29.3", "ICD9:222.3", "MEDGEN:57578", "NCIT:C3614", "SCTID:92088003", "UMLS:C0154010", "icd11.foundation:1440739556"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the ear.", "id": "MONDO:0021474", "name": "Benign neoplasm of ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aural neoplasms, benign", "benign Ear neoplasm", "benign Ear tumor", "benign Ear tumour", "benign neoplasm of the Ear", "benign tumor of Ear", "benign tumor of the Ear", "benign tumour of Ear", "benign tumour of the Ear", "ear benign neoplasm"], "xref": ["MEDGEN:138081", "NCIT:C8417", "SCTID:255181009", "UMLS:C0347354"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the nasal cavity.", "id": "MONDO:0021475", "name": "Benign neoplasm of nasal cavity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign nasal cavity neoplasm", "benign nasal cavity tumor", "benign nasal cavity tumour", "benign neoplasm of the nasal cavity", "benign tumor of nasal cavity", "benign tumor of the nasal cavity", "benign tumour of nasal cavity", "benign tumour of the nasal cavity", "nasal cavity benign neoplasm"], "xref": ["ICD9:212.0", "MEDGEN:83859", "NCIT:C4603", "SCTID:92241005", "UMLS:C0347215", "icd11.foundation:44101401"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the tongue.", "id": "MONDO:0021476", "name": "Benign neoplasm of tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the tongue", "benign tongue neoplasm", "benign tongue tumor", "benign tongue tumour", "benign tumor of the tongue", "benign tumor of tongue", "benign tumour of the tongue", "benign tumour of tongue", "tongue benign neoplasm", "tongue neoplasm, benign"], "xref": ["ICD10CM:D10.1", "ICD9:210.1", "MEDGEN:57573", "NCIT:C3592", "SCTID:92443005", "UMLS:C0153933", "icd11.foundation:487744161"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the sphenoid sinus.", "id": "MONDO:0021477", "name": "Benign neoplasm of sphenoidal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign neoplasm of sphenoid sinus", "benign neoplasm of the sphenoid sinus", "benign neoplasm of the sphenoidal sinus", "benign sphenoid sinus neoplasm", "benign sphenoid sinus tumor", "benign sphenoid sinus tumour", "benign sphenoidal sinus neoplasm", "benign sphenoidal sinus tumor", "benign sphenoidal sinus tumour", "benign tumor of sphenoid sinus", "benign tumor of sphenoidal sinus", "benign tumor of the sphenoid sinus", "benign tumor of the sphenoidal sinus", "benign tumour of sphenoid sinus", "benign tumour of sphenoidal sinus", "benign tumour of the sphenoid sinus", "benign tumour of the sphenoidal sinus", "sphenoidal sinus benign neoplasm"], "xref": ["GARD:0025322", "ICD9:212.0", "MEDGEN:83387", "NCIT:C4422", "SCTID:92404006", "UMLS:C0345678"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the nasopharynx.", "id": "MONDO:0021478", "name": "Benign neoplasm of nasopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign nasopharyngeal neoplasm", "benign nasopharyngeal tumor", "benign nasopharyngeal tumour", "benign neoplasm of the nasopharynx", "benign tumor of nasopharynx", "benign tumor of the nasopharynx", "benign tumour of nasopharynx", "benign tumour of the nasopharynx", "nasopharyngeal neoplasm, benign", "nasopharynx benign neoplasm"], "xref": ["ICD10CM:D10.6", "ICD9:210.7", "MEDGEN:57574", "NCIT:C3595", "SCTID:188800003", "UMLS:C0153938", "icd11.foundation:1862070581"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the oropharynx.", "id": "MONDO:0021479", "name": "Benign neoplasm of oropharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the oropharynx", "benign oropharyngeal neoplasm", "benign oropharyngeal tumor", "benign oropharyngeal tumour", "benign tumor of oropharynx", "benign tumor of the oropharynx", "benign tumour of oropharynx", "benign tumour of the oropharynx", "oropharyngeal neoplasm benign", "oropharynx benign neoplasm"], "xref": ["ICD9:210.6", "MEDGEN:87572", "NCIT:C4604", "SCTID:92259008", "UMLS:C0347229", "icd11.foundation:441557450"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the soft palate.", "id": "MONDO:0021480", "name": "Benign neoplasm of soft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the soft palate", "benign soft palate neoplasm", "benign soft palate tumor", "benign soft palate tumour", "benign tumor of soft palate", "benign tumor of the soft palate", "benign tumour of soft palate", "benign tumour of the soft palate", "soft palate benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:87506", "NCIT:C4404", "SCTID:92386006", "UMLS:C0345557", "icd11.foundation:1613798421"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the submandibular gland.", "id": "MONDO:0021481", "name": "Benign neoplasm of submandibular gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the submandibular gland", "benign submandibular gland neoplasm", "benign submandibular gland tumor", "benign submandibular gland tumour", "benign tumor of submandibular gland", "benign tumor of the submandibular gland", "benign tumour of submandibular gland", "benign tumour of the submandibular gland", "submandibular gland benign neoplasm"], "xref": ["MEDGEN:151936", "NCIT:C4891", "SCTID:92415001", "UMLS:C0685988", "icd11.foundation:564841249"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the middle ear.", "id": "MONDO:0021482", "name": "Benign neoplasm of middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign middle Ear neoplasm", "benign middle Ear tumor", "benign middle Ear tumour", "benign neoplasm of the middle Ear", "benign tumor of middle Ear", "benign tumor of the middle Ear", "benign tumour of middle Ear", "benign tumour of the middle Ear", "middle ear benign neoplasm"], "xref": ["ICD9:212.0", "MEDGEN:91121", "NCIT:C4602", "SCTID:92218002", "UMLS:C0347213", "icd11.foundation:1119231856"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the frontal sinus.", "id": "MONDO:0021483", "name": "Benign neoplasm of frontal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign frontal sinus neoplasm", "benign frontal sinus tumor", "benign frontal sinus tumour", "benign neoplasm of the frontal sinus", "benign tumor of frontal sinus", "benign tumor of the frontal sinus", "benign tumour of frontal sinus", "benign tumour of the frontal sinus", "frontal sinus benign neoplasm"], "xref": ["GARD:0025323", "ICD9:212.0", "MEDGEN:87510", "NCIT:C4420", "SCTID:92115005", "UMLS:C0345674", "icd11.foundation:399551439"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the maxillary sinus.", "id": "MONDO:0021484", "name": "Benign neoplasm of maxillary sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign maxillary antrum neoplasm", "benign maxillary antrum tumor", "benign maxillary antrum tumour", "benign maxillary sinus neoplasm", "benign maxillary sinus tumor", "benign maxillary sinus tumour", "benign maxillofacial sinus neoplasm", "benign maxillofacial sinus tumor", "benign maxillofacial sinus tumour", "benign neoplasm of maxillary antrum", "benign neoplasm of maxillofacial sinus", "benign neoplasm of the maxillary antrum", "benign neoplasm of the maxillary sinus", "benign neoplasm of the maxillofacial sinus", "benign tumor of maxillary antrum", "benign tumor of maxillary sinus", "benign tumor of maxillofacial sinus", "benign tumor of the maxillary antrum", "benign tumor of the maxillary sinus", "benign tumor of the maxillofacial sinus", "benign tumour of maxillary antrum", "benign tumour of maxillary sinus", "benign tumour of maxillofacial sinus", "benign tumour of the maxillary antrum", "benign tumour of the maxillary sinus", "benign tumour of the maxillofacial sinus", "maxillary sinus benign neoplasm"], "xref": ["GARD:0025324", "ICD9:212.0", "MEDGEN:138024", "NCIT:C4414", "SCTID:92211008", "UMLS:C0345666", "icd11.foundation:1738455612"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the iris.", "id": "MONDO:0021485", "name": "Benign neoplasm of iris", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign iris neoplasm", "benign iris tumor", "benign iris tumour", "benign neoplasm of the iris", "benign tumor of iris", "benign tumor of the iris", "benign tumour of iris", "benign tumour of the iris", "iris benign neoplasm"], "xref": ["ICD9:224.0", "MEDGEN:87560", "NCIT:C4555", "SCTID:189151003", "UMLS:C0346374", "icd11.foundation:549962833"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the ciliary body.", "id": "MONDO:0021486", "name": "Benign neoplasm of ciliary body", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign ciliary body neoplasm", "benign ciliary body tumor", "benign ciliary body tumour", "benign neoplasm of the ciliary body", "benign tumor of ciliary body", "benign tumor of the ciliary body", "benign tumour of ciliary body", "benign tumour of the ciliary body", "ciliary body benign neoplasm"], "xref": ["ICD10CM:D31.4", "ICD9:224.0", "MEDGEN:96927", "NCIT:C4779", "SCTID:92060009", "UMLS:C0496894", "icd11.foundation:1138156221"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the optic choroid.", "id": "MONDO:0021487", "name": "Benign neoplasm of choroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign choroid neoplasm", "benign choroid tumor", "benign choroid tumour", "benign neoplasm of the choroid", "benign tumor of choroid", "benign tumor of the choroid", "benign tumour of choroid", "benign tumour of the choroid", "optic choroid benign neoplasm"], "xref": ["ICD10CM:D31.3", "ICD9:224.6", "MEDGEN:57581", "NCIT:C3625", "SCTID:92059004", "UMLS:C0154028", "icd11.foundation:809005353"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the lacrimal gland.", "id": "MONDO:0021488", "name": "Benign neoplasm of lacrimal gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign lacrimal gland neoplasm", "benign lacrimal gland tumor", "benign lacrimal gland tumour", "benign neoplasm of the lacrimal gland", "benign tumor of lacrimal gland", "benign tumor of the lacrimal gland", "benign tumour of lacrimal gland", "benign tumour of the lacrimal gland", "lacrimal gland benign neoplasm"], "xref": ["ICD9:224.2", "MEDGEN:57813", "NCIT:C3621", "SCTID:92169007", "UMLS:C0154024", "icd11.foundation:1163790602"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the sweat gland.", "id": "MONDO:0021489", "name": "Benign neoplasm of sweat gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the sweat gland", "benign sweat gland neoplasm", "benign sweat gland tumor", "benign sweat gland tumour", "benign tumor of sweat gland", "benign tumor of the sweat gland", "benign tumour of sweat gland", "benign tumour of the sweat gland", "sweat gland benign neoplasm", "sweat gland neoplasm, benign"], "xref": ["MEDGEN:146888", "NCIT:C4879", "SCTID:92422009", "UMLS:C0684354"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the sebaceous gland.", "id": "MONDO:0021490", "name": "Benign neoplasm of sebaceous gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the sebaceous gland", "benign sebaceous gland neoplasm", "benign sebaceous gland tumor", "benign sebaceous gland tumour", "benign sebaceous neoplasm", "benign sebaceous skin neoplasm", "benign sebaceous skin tumor", "benign sebaceous skin tumour", "benign sebaceous tumor", "benign sebaceous tumour", "benign tumor of sebaceous gland", "benign tumor of the sebaceous gland", "benign tumour of sebaceous gland", "benign tumour of the sebaceous gland", "sebaceous gland benign neoplasm"], "xref": ["MEDGEN:195772", "NCIT:C8525", "SCTID:92337009", "UMLS:C0684358"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the gingiva.", "id": "MONDO:0021491", "name": "Benign neoplasm of gum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign gingival neoplasm", "benign gingival tumor", "benign gingival tumour", "benign gum neoplasm", "benign gum tumor", "benign gum tumour", "benign neoplasm of gingiva", "benign neoplasm of the gingiva", "benign neoplasm of the gum", "benign tumor of gingiva", "benign tumor of gum", "benign tumor of the gingiva", "benign tumor of the gum", "benign tumour of gingiva", "benign tumour of gum", "benign tumour of the gingiva", "benign tumour of the gum", "gingiva benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:83856", "NCIT:C4598", "SCTID:92126004", "UMLS:C0347201", "icd11.foundation:1593834675"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the major salivary gland.", "id": "MONDO:0021492", "name": "Benign neoplasm of major salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Major salivary gland neoplasm", "benign Major salivary gland tumor", "benign Major salivary gland tumour", "benign neoplasm of the Major salivary gland", "benign tumor of Major salivary gland", "benign tumor of the Major salivary gland", "benign tumour of Major salivary gland", "benign tumour of the Major salivary gland", "major salivary gland benign neoplasm"], "xref": ["ICD9:210.2", "MEDGEN:96923", "NCIT:C4771", "SCTID:92205005", "UMLS:C0496858"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the minor salivary gland.", "id": "MONDO:0021493", "name": "Benign neoplasm of minor salivary gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign minor salivary gland neoplasm", "benign minor salivary gland tumor", "benign minor salivary gland tumour", "benign neoplasm of the minor salivary gland", "benign tumor of minor salivary gland", "benign tumor of the minor salivary gland", "benign tumour of minor salivary gland", "benign tumour of the minor salivary gland", "minor salivary gland benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:87508", "NCIT:C4411", "SCTID:92220004", "UMLS:C0345615"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the parotid gland.", "id": "MONDO:0021494", "name": "Benign neoplasm of parotid gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of parotid", "benign neoplasm of the parotid", "benign neoplasm of the parotid gland", "benign parotid gland neoplasm", "benign parotid gland tumor", "benign parotid gland tumour", "benign parotid neoplasm", "benign parotid tumor", "benign parotid tumour", "benign tumor of parotid", "benign tumor of parotid gland", "benign tumor of the parotid", "benign tumor of the parotid gland", "benign tumour of parotid", "benign tumour of parotid gland", "benign tumour of the parotid", "benign tumour of the parotid gland", "parotid gland benign neoplasm"], "xref": ["ICD10CM:D11.0", "MEDGEN:99220", "NCIT:C4770", "SCTID:92279000", "UMLS:C0496857", "icd11.foundation:1688299444"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the sublingual gland.", "id": "MONDO:0021495", "name": "Benign neoplasm of sublingual gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the sublingual gland", "benign sublingual gland neoplasm", "benign sublingual gland tumor", "benign sublingual gland tumour", "benign tumor of sublingual gland", "benign tumor of the sublingual gland", "benign tumour of sublingual gland", "benign tumour of the sublingual gland", "sublingual gland benign neoplasm"], "xref": ["MEDGEN:83858", "NCIT:C4601", "SCTID:92413008", "UMLS:C0347208", "icd11.foundation:1267377894"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the lip.", "id": "MONDO:0021496", "name": "Benign neoplasm of lip", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Lip neoplasm", "benign Lip tumor", "benign Lip tumour", "benign neoplasm of the Lip", "benign tumor of Lip", "benign tumor of the Lip", "benign tumour of Lip", "benign tumour of the Lip", "lip benign neoplasm", "lip neoplasm, benign"], "xref": ["ICD10CM:D10.0", "ICD9:210.0", "MEDGEN:102294", "NCIT:C3591", "SCTID:92185002", "UMLS:C0153932", "icd11.foundation:2019143477"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the telencephalon.", "id": "MONDO:0021497", "name": "Benign neoplasm of cerebrum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cerebral hemispheric neoplasm", "benign cerebral hemispheric tumor", "benign cerebral hemispheric tumour", "benign cerebral neoplasm", "benign cerebral tumor", "benign cerebral tumour", "benign neoplasm of cerebral hemispheres", "benign neoplasm of the cerebral hemispheres", "benign neoplasm of the cerebrum", "benign tumor of cerebral hemispheres", "benign tumor of cerebrum", "benign tumor of the cerebral hemispheres", "benign tumor of the cerebrum", "benign tumour of cerebral hemispheres", "benign tumour of cerebrum", "benign tumour of the cerebral hemispheres", "benign tumour of the cerebrum", "telencephalon benign neoplasm"], "xref": ["MEDGEN:195785", "NCIT:C8548", "SCTID:275269004", "UMLS:C0686378", "icd11.foundation:1857115524"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the placenta.", "id": "MONDO:0021498", "name": "Benign neoplasm of placenta", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the placenta", "benign placenta neoplasm", "benign placenta tumor", "benign placenta tumour", "benign placental neoplasm", "benign placental tumor", "benign placental tumour", "benign tumor of placenta", "benign tumor of the placenta", "benign tumour of placenta", "benign tumour of the placenta", "placenta benign neoplasm", "placental neoplasms, benign"], "xref": ["EFO:1001443", "ICD9:219.8", "MEDGEN:146350", "NCIT:C8545", "SCTID:92297008", "UMLS:C0686274", "icd11.foundation:194589255"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the cerebellum.", "id": "MONDO:0021499", "name": "Benign neoplasm of cerebellum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cerebellar neoplasm", "benign cerebellar neoplasms", "benign cerebellar tumor", "benign cerebellar tumour", "benign neoplasm of the cerebellum", "benign tumor of cerebellum", "benign tumor of the cerebellum", "benign tumour of cerebellum", "benign tumour of the cerebellum", "cerebellar neoplasms, benign", "cerebellum benign neoplasm", "neoplasms, benign, cerebellar", "neoplasms, cerebellar, benign"], "xref": ["MEDGEN:196704", "NCIT:C4955", "SCTID:92050000", "UMLS:C0750995", "icd11.foundation:664460646"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the spleen.", "id": "MONDO:0021500", "name": "Benign neoplasm of spleen", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign neoplasm of the spleen", "benign splenic neoplasm", "spleen benign neoplasm"], "xref": ["GARD:0025325", "ICD9:211.9", "MEDGEN:146355", "NCIT:C4902", "SCTID:92408009", "UMLS:C0686615"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the small intestine.", "id": "MONDO:0021501", "name": "Benign neoplasm of small intestine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the small intestine", "benign small intestinal neoplasm", "benign small intestinal tumor", "benign small intestinal tumour", "benign small intestine neoplasm", "benign small intestine tumor", "benign small intestine tumour", "benign tumor of small intestine", "benign tumor of the small intestine", "benign tumour of small intestine", "benign tumour of the small intestine", "small intestine benign neoplasm"], "xref": ["ICD9:211.2", "MEDGEN:56324", "NCIT:C3600", "SCTID:92385005", "UMLS:C0153944"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the gall bladder.", "id": "MONDO:0021503", "name": "Benign neoplasm of gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign gallbladder neoplasm", "benign gallbladder tumor", "benign gallbladder tumour", "benign neoplasm of the gallbladder", "benign tumor of gallbladder", "benign tumor of the gallbladder", "benign tumour of gallbladder", "benign tumour of the gallbladder", "gall bladder benign neoplasm", "gallbladder benign neoplasm", "gallbladder benign tumor", "gallbladder benign tumour"], "xref": ["DOID:0080640", "MEDGEN:87524", "NCIT:C4440", "SCTID:92117002", "UMLS:C0345912", "icd11.foundation:1439916526"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the endocardium.", "id": "MONDO:0021505", "name": "Benign neoplasm of endocardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign endocardial neoplasm", "benign endocardial tumor", "benign endocardial tumour", "benign neoplasm of the endocardium", "benign tumor of endocardium", "benign tumor of the endocardium", "benign tumour of endocardium", "benign tumour of the endocardium", "endocardium benign neoplasm"], "xref": ["GARD:0027901", "MEDGEN:83863", "NCIT:C4608", "SCTID:92083007", "UMLS:C0347254", "icd11.foundation:1776419379"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the spinal cord.", "id": "MONDO:0021506", "name": "Benign neoplasm of spinal cord", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the spinal cord", "benign spinal cord neoplasm", "benign spinal cord tumor", "benign spinal cord tumour", "benign tumor of spinal cord", "benign tumor of the spinal cord", "benign tumour of spinal cord", "benign tumour of the spinal cord", "spinal cord benign neoplasm", "spinal cord neoplasm, benign"], "xref": ["ICD10CM:D33.4", "ICD9:225.3", "MEDGEN:56329", "NCIT:C3627", "SCTID:92405007", "UMLS:C0154034", "icd11.foundation:1588169218"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the brainstem.", "id": "MONDO:0021507", "name": "Benign neoplasm of brain stem", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign brain stem neoplasm", "benign brain stem neoplasms", "benign brain stem tumor", "benign brain stem tumour", "benign brainstem neoplasm", "benign brainstem neoplasms", "benign brainstem tumor", "benign brainstem tumors", "benign brainstem tumour", "benign brainstem tumours", "benign neoplasm of brainstem", "benign neoplasm of the brain stem", "benign neoplasm of the brainstem", "benign neoplasms of brainstem", "benign neoplasms of the brainstem", "benign tumor of brain stem", "benign tumor of brainstem", "benign tumor of the brain stem", "benign tumor of the brainstem", "benign tumors of brainstem", "benign tumors of the brainstem", "benign tumour of brain stem", "benign tumour of brainstem", "benign tumour of the brain stem", "benign tumour of the brainstem", "benign tumours of brainstem", "benign tumours of the brainstem", "brainstem benign neoplasm"], "xref": ["MEDGEN:146353", "NCIT:C8549", "SCTID:92029009", "UMLS:C0686400"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the epicardium.", "id": "MONDO:0021508", "name": "Benign neoplasm of epicardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign epicardial neoplasm", "benign epicardial tumor", "benign epicardial tumour", "benign neoplasm of the epicardium", "benign tumor of epicardium", "benign tumor of the epicardium", "benign tumour of epicardium", "benign tumour of the epicardium", "epicardium benign neoplasm"], "xref": ["GARD:0027902", "MEDGEN:146342", "NCIT:C8535", "SCTID:92087008", "UMLS:C0685115", "icd11.foundation:1295571347"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the myocardium.", "id": "MONDO:0021509", "name": "Benign neoplasm of myocardium", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign myocardial neoplasm", "benign myocardial tumor", "benign myocardial tumour", "benign neoplasm of the myocardium", "benign tumor of myocardium", "benign tumor of the myocardium", "benign tumour of myocardium", "benign tumour of the myocardium", "myocardium benign neoplasm"], "xref": ["GARD:0027903", "MEDGEN:83862", "NCIT:C4607", "SCTID:92238001", "UMLS:C0347253", "icd11.foundation:2097885721"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the prostate gland.", "id": "MONDO:0021510", "name": "Benign neoplasm of prostate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of the prostate", "benign prostate neoplasm", "benign prostate tumor", "benign prostate tumour", "benign prostatic neoplasm", "benign tumor of prostate", "benign tumor of the prostate", "benign tumour of prostate", "benign tumour of the prostate", "prostate gland benign neoplasm"], "xref": ["ICD10CM:D29.1", "ICD9:222.2", "MEDGEN:57577", "NCIT:C3613", "SCTID:92308005", "UMLS:C0154009", "icd11.foundation:1144614287"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the adrenal gland.", "id": "MONDO:0021511", "name": "Benign neoplasm of adrenal gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal gland benign neoplasm", "benign adrenal gland neoplasm", "benign adrenal gland tumor", "benign adrenal gland tumour", "benign adrenal neoplasm", "benign adrenal tumor", "benign adrenal tumour", "benign neoplasm of the adrenal gland", "benign tumor of adrenal gland", "benign tumor of the adrenal gland", "benign tumour of adrenal gland", "benign tumour of the adrenal gland"], "xref": ["GARD:0025326", "ICD10CM:D35.0", "ICD9:227.0", "MEDGEN:56330", "NCIT:C3629", "SCTID:91967007", "UMLS:C0154040", "icd11.foundation:2121003176"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the thymus.", "id": "MONDO:0021512", "name": "Benign neoplasm of thymus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign Thymus neoplasm", "benign Thymus tumor", "benign Thymus tumour", "benign neoplasm of the Thymus", "benign thymic neoplasm", "benign thymic tumor", "benign thymic tumour", "benign tumor of Thymus", "benign tumor of the Thymus", "benign tumour of Thymus", "benign tumour of the Thymus", "thymus benign neoplasm"], "xref": ["GARD:0025327", "ICD10CM:D15.0", "ICD9:212.6", "MEDGEN:87526", "NCIT:C4458", "SCTID:92437008", "UMLS:C0345975", "icd11.foundation:1583331018"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the tonsil.", "id": "MONDO:0021513", "name": "Benign neoplasm of tonsil", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the tonsil", "benign tonsil neoplasm", "benign tonsil tumor", "benign tonsil tumour", "benign tonsillar neoplasm", "benign tonsillar tumor", "benign tonsillar tumour", "benign tumor of the tonsil", "benign tumor of tonsil", "benign tumour of the tonsil", "benign tumour of tonsil", "tonsil benign neoplasm", "tonsillar neoplasm, benign"], "xref": ["ICD10CM:D10.4", "ICD9:210.5", "MEDGEN:57804", "NCIT:C3594", "SCTID:92263001", "UMLS:C0153936", "icd11.foundation:2132438112"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the pericardium.", "id": "MONDO:0021514", "name": "Benign neoplasm of pericardium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the pericardium", "benign pericardial neoplasm", "benign pericardial tumor", "benign pericardial tumour", "benign tumor of pericardium", "benign tumor of the pericardium", "benign tumour of pericardium", "benign tumour of the pericardium", "pericardium benign neoplasm"], "xref": ["MEDGEN:151928", "NCIT:C8536", "SCTID:92289001", "UMLS:C0685118", "icd11.foundation:1296244385"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the ethmoid sinus.", "id": "MONDO:0021515", "name": "Benign neoplasm of ethmoidal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign ethmoid sinus neoplasm", "benign ethmoid sinus tumor", "benign ethmoid sinus tumour", "benign ethmoidal sinus neoplasm", "benign ethmoidal sinus tumor", "benign ethmoidal sinus tumour", "benign neoplasm of ethmoid sinus", "benign neoplasm of the ethmoid sinus", "benign neoplasm of the ethmoidal sinus", "benign tumor of ethmoid sinus", "benign tumor of ethmoidal sinus", "benign tumor of the ethmoid sinus", "benign tumor of the ethmoidal sinus", "benign tumour of ethmoid sinus", "benign tumour of ethmoidal sinus", "benign tumour of the ethmoid sinus", "benign tumour of the ethmoidal sinus", "ethmoid sinus benign neoplasm"], "xref": ["GARD:0025328", "ICD9:212.0", "MEDGEN:91050", "NCIT:C4417", "SCTID:92093000", "UMLS:C0345670"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the glottis.", "id": "MONDO:0021516", "name": "Benign neoplasm of glottis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign glottis neoplasm", "benign glottis tumor", "benign glottis tumour", "benign neoplasm of the glottis", "benign tumor of glottis", "benign tumor of the glottis", "benign tumour of glottis", "benign tumour of the glottis", "glottis benign neoplasm"], "xref": ["MEDGEN:91123", "NCIT:C4605", "SCTID:92123007", "UMLS:C0347234", "icd11.foundation:1704448187"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the trachea.", "id": "MONDO:0021517", "name": "Benign neoplasm of trachea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the trachea", "benign trachea neoplasm", "benign trachea tumor", "benign trachea tumour", "benign tracheal neoplasm", "benign tracheal tumor", "benign tracheal tumour", "benign tumor of the trachea", "benign tumor of trachea", "benign tumour of the trachea", "benign tumour of trachea", "trachea benign neoplasm"], "xref": ["ICD10CM:D14.2", "ICD9:212.2", "MEDGEN:56326", "NCIT:C3602", "SCTID:92446002", "UMLS:C0153953", "icd11.foundation:1396826912"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the hard palate.", "id": "MONDO:0021518", "name": "Benign neoplasm of hard palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign hard palate neoplasm", "benign hard palate tumor", "benign hard palate tumour", "benign neoplasm of the hard palate", "benign tumor of hard palate", "benign tumor of the hard palate", "benign tumour of hard palate", "benign tumour of the hard palate", "hard palate benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:138020", "NCIT:C4403", "SCTID:92129006", "UMLS:C0345552", "icd11.foundation:73566306"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the mouth floor.", "id": "MONDO:0021520", "name": "Benign neoplasm of floor of mouth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign floor of mouth neoplasm", "benign floor of mouth tumor", "benign floor of mouth tumour", "benign floor of the mouth neoplasm", "benign floor of the mouth tumor", "benign floor of the mouth tumour", "benign neoplasm of the floor of the mouth", "benign tumor of floor of mouth", "benign tumor of the floor of the mouth", "benign tumour of floor of mouth", "benign tumour of the floor of the mouth", "mouth floor benign neoplasm"], "xref": ["ICD10CM:D10.2", "ICD9:210.3", "MEDGEN:102295", "NCIT:C3593", "SCTID:92109005", "UMLS:C0153934", "icd11.foundation:1774137950"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the mediastinum.", "id": "MONDO:0021521", "name": "Benign neoplasm of mediastinum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign mediastinal neoplasm", "benign mediastinal tumor", "benign mediastinal tumour", "benign neoplasm of the mediastinum", "benign tumor of mediastinum", "benign tumor of the mediastinum", "benign tumour of mediastinum", "benign tumour of the mediastinum", "mediastinum benign neoplasm"], "xref": ["ICD10CM:D15.2", "ICD9:212.5", "MEDGEN:102298", "NCIT:C3604", "SCTID:92214000", "UMLS:C0153956", "icd11.foundation:1337535393"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the bone of lower jaw.", "id": "MONDO:0021522", "name": "Benign neoplasm of lower jaw bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bone of lower jaw benign neoplasm"], "xref": ["GARD:0025329", "ICD10CM:D16.5", "ICD9:213.1", "MEDGEN:2572", "NCIT:C34417", "SCTID:92208007", "UMLS:C0004994"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the pharynx.", "id": "MONDO:0021523", "name": "Benign neoplasm of pharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the pharynx", "benign pharyngeal neoplasm", "benign pharyngeal tumor", "benign pharyngeal tumour", "benign pharynx neoplasm", "benign pharynx tumor", "benign pharynx tumour", "benign tumor of pharynx", "benign tumor of the pharynx", "benign tumour of pharynx", "benign tumour of the pharynx", "pharyngeal neoplasm benign", "pharynx benign neoplasm"], "xref": ["ICD9:210.9", "MEDGEN:102296", "NCIT:C3597", "SCTID:92293007", "UMLS:C0153940"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the buccal mucosa.", "id": "MONDO:0021524", "name": "Benign neoplasm of buccal mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign buccal mucosa neoplasm", "benign buccal mucosa tumor", "benign buccal mucosa tumour", "benign neoplasm of the buccal mucosa", "benign tumor of buccal mucosa", "benign tumor of the buccal mucosa", "benign tumour of buccal mucosa", "benign tumour of the buccal mucosa", "buccal mucosa benign neoplasm"], "xref": ["ICD9:210.4", "MEDGEN:91046", "NCIT:C4406", "SCTID:92039003", "UMLS:C0345566", "icd11.foundation:1053814432"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the body of uterus.", "id": "MONDO:0021525", "name": "Benign neoplasm of corpus uteri", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign corpus uteri neoplasm", "benign corpus uteri tumor", "benign corpus uteri tumour", "benign neoplasm of body of uterus", "benign neoplasm of the body of uterus", "benign neoplasm of the corpus uteri", "benign neoplasm of the uterine body", "benign neoplasm of the uterine corpus", "benign neoplasm of uterine body", "benign neoplasm of uterine corpus", "benign tumor of body of uterus", "benign tumor of corpus uteri", "benign tumor of the body of uterus", "benign tumor of the corpus uteri", "benign tumor of the uterine body", "benign tumor of the uterine corpus", "benign tumor of uterine body", "benign tumor of uterine corpus", "benign tumour of body of uterus", "benign tumour of corpus uteri", "benign tumour of the body of uterus", "benign tumour of the corpus uteri", "benign tumour of the uterine body", "benign tumour of the uterine corpus", "benign tumour of uterine body", "benign tumour of uterine corpus", "benign uterine body neoplasm", "benign uterine body tumor", "benign uterine body tumour", "benign uterine corpus neoplasm", "benign uterine corpus tumor", "benign uterine corpus tumour", "body of uterus benign neoplasm"], "xref": ["ICD9:219.1", "MEDGEN:57808", "NCIT:C3608", "SCTID:92021007", "UMLS:C0153998"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the meningeal cluster.", "id": "MONDO:0021527", "name": "Benign neoplasm of meninges", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign meningeal neoplasm", "benign meningeal neoplasms", "benign meningeal tumor", "benign meningeal tumors", "benign meningeal tumour", "benign meningeal tumours", "benign meninges neoplasm", "benign meninges tumor", "benign meninges tumour", "benign neoplasm of the meninges", "benign neoplasms of meninges", "benign neoplasms of the meninges", "benign tumor of meninges", "benign tumor of the meninges", "benign tumour of meninges", "benign tumour of the meninges", "meningeal cluster benign neoplasm", "meningeal tumors, benign"], "xref": ["GARD:0025330", "ICD10CM:D32", "ICD10WHO:D32", "MEDGEN:138093", "NCIT:C4957", "SCTID:109913001", "UMLS:C0348426"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the breast parenchyma in males.", "id": "MONDO:0021528", "name": "Benign neoplasm of male breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign Male breast neoplasm", "benign Male breast tumor", "benign Male breast tumour", "benign neoplasm of the Male breast", "benign tumor of Male breast", "benign tumor of the Male breast", "benign tumour of Male breast", "benign tumour of the Male breast", "male breast benign neoplasm"], "xref": ["MEDGEN:83867", "NCIT:C4620", "SCTID:92206006", "UMLS:C0347482"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the chest wall.", "id": "MONDO:0021529", "name": "Benign neoplasm of chest wall", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign chest wall neoplasm", "benign chest wall tumor", "benign chest wall tumour", "benign neoplasm of the chest wall", "benign tumor of chest wall", "benign tumor of the chest wall", "benign tumour of chest wall", "benign tumour of the chest wall", "chest wall benign neoplasm"], "xref": ["ICD9:229.8", "MEDGEN:195776", "NCIT:C8529", "SCTID:92058007", "UMLS:C0684831"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the subglottis.", "id": "MONDO:0021530", "name": "Benign neoplasm of subglottis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of the subglottis", "benign subglottic neoplasm", "benign subglottic tumor", "benign subglottic tumour", "benign subglottis neoplasm", "benign subglottis tumor", "benign subglottis tumour", "benign tumor of subglottis", "benign tumor of the subglottis", "benign tumour of subglottis", "benign tumour of the subglottis", "subglottis benign neoplasm"], "xref": ["MEDGEN:83388", "NCIT:C4427", "SCTID:92412003", "UMLS:C0345749"]}
{"category": ["biolink:Disease"], "description": "A fibroma that involves the lung.", "id": "MONDO:0021531", "name": "Fibroma of lung", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroma of the lung", "lung fibroma", "pulmonary fibroma"], "xref": ["MEDGEN:272803", "NCIT:C5658", "SCTID:707387004", "UMLS:C1334444"]}
{"category": ["biolink:Disease"], "description": "A fibroma that involves the prostate gland.", "id": "MONDO:0021532", "name": "Fibroma of prostate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroma of the prostate", "prostate fibroma", "prostate gland fibroma"], "xref": ["ICD9:600.20", "MEDGEN:75709", "NCIT:C3972", "SCTID:47014000", "UMLS:C0268885"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0021533", "name": "Intestinal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid tumor of intestine", "carcinoid tumor of the intestine", "carcinoid tumour of intestine", "carcinoid tumour of the intestine", "grade 1 neuroendocrine neoplasm of intestine", "intestinal NET G1", "intestinal carcinoid tumor", "intestinal carcinoid tumour", "intestinal neuroendocrine tumor G1", "intestine NET G1", "intestine carcinoid tumor", "intestine carcinoid tumor (disease)", "intestine carcinoid tumour", "intestine carcinoid tumour (disease)", "intestine neuroendocrine neoplasm G1", "intestine neuroendocrine tumor, well differentiated, low grade"], "xref": ["GARD:0025331", "MEDGEN:138099", "MESH:C562842", "NCIT:C4637", "OMIM:114900", "SCTID:276816003", "UMLS:C0349535"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.", "id": "MONDO:0021534", "name": "Rectal neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoid of rectum", "carcinoid of the rectum", "carcinoid tumor of rectum", "carcinoid tumor of the rectum", "carcinoid tumour of rectum", "carcinoid tumour of the rectum", "grade 1 neuroendocrine neoplasm of rectum", "rectal NET G1", "rectal carcinoid", "rectal carcinoid tumor", "rectal carcinoid tumour", "rectal neuroendocrine tumor G1", "rectum NET G1", "rectum carcinoid tumor", "rectum carcinoid tumor (disease)", "rectum carcinoid tumour", "rectum carcinoid tumour (disease)", "rectum neuroendocrine neoplasm G1", "rectum neuroendocrine tumor, well differentiated, low grade"], "xref": ["GARD:0025332", "MEDGEN:233389", "NCIT:C5547", "SCTID:713306000", "UMLS:C1335678"]}
{"category": ["biolink:Disease"], "description": "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.", "id": "MONDO:0021535", "name": "Pancreatic neuroendocrine tumor g1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["grade 1 neuroendocrine neoplasm of pancreas", "pancreas NET G1", "pancreas carcinoid tumor", "pancreas carcinoid tumour", "pancreas neuroendocrine neoplasm G1", "pancreas neuroendocrine tumor, well differentiated, low grade", "pancreatic NET G1", "pancreatic neuroendocrine tumor G1"], "xref": ["GARD:0025333", "MEDGEN:459467", "NCIT:C95584", "SCTID:254613007", "UMLS:C2987241"]}
{"category": ["biolink:Disease"], "description": "A undifferentiated carcinoma that involves the nasopharynx.", "id": "MONDO:0021537", "name": "Undifferentiated carcinoma of nasopharynx", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["lymphoepithelioma of nasopharynx", "lymphoepithelioma of the nasopharynx", "nasopharyngeal lymphoepithelioma", "nasopharyngeal nonkeratinizing undifferentiated carcinoma", "nasopharyngeal undifferentiated carcinoma", "nasopharynx undifferentiated carcinoma", "undifferentiated carcinoma of the nasopharynx", "undifferentiated nasopharyngeal throat cancer"], "xref": ["GARD:0025334", "MEDGEN:124650", "NCIT:C8023", "SCTID:422541001", "UMLS:C0279748", "icd11.foundation:584112926"]}
{"category": ["biolink:Disease"], "description": "A verrucous carcinoma that involves the oral cavity.", "id": "MONDO:0021538", "name": "Verrucous carcinoma of oral cavity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mouth verrucous carcinoma", "oral cavity verrucous cancer", "oral cavity verrucous carcinoma", "verrucous carcinoma of mouth", "verrucous carcinoma of the mouth", "verrucous carcinoma of the oral cavity"], "xref": ["GARD:0025335", "MEDGEN:124716", "NCIT:C8174", "SCTID:403889000", "UMLS:C0280306"]}
{"category": ["biolink:Disease"], "description": "A hamartoma (disease) that involves the cutaneous appendage.", "id": "MONDO:0021539", "name": "Hamartoma of skin appendage", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutaneous appendage hamartoma (disease)", "skin appendage hamartoma"], "xref": ["ICD9:759.6", "MEDGEN:224909", "NCIT:C5562", "SCTID:399906000", "UMLS:C1302712"]}
{"category": ["biolink:Disease"], "description": "A hamartoma (disease) that involves the lung.", "id": "MONDO:0021540", "name": "Hamartoma of lung", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hamartoma of the lung", "lung chondroid hamartoma", "lung hamartoma", "lung hamartoma (disease)", "pulmonary hamartoma"], "xref": ["ICD9:235.7", "MEDGEN:101774", "NCIT:C3497", "SCTID:254644003", "UMLS:C0149927"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that involves the retina.", "id": "MONDO:0021541", "name": "Hemangioma of retina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of retina", "angioma of the retina", "hemangioma of the retina", "retina angioma", "retina hemangioma", "retinal angioma", "retinal hemangioma"], "xref": ["ICD9:228.03", "MEDGEN:102307", "NCIT:C3634", "SCTID:93470007", "UMLS:C0154051"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that involves the optic choroid.", "id": "MONDO:0021542", "name": "Hemangioma of choroid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of choroid", "angioma of the choroid", "benign angioma of choroid", "benign angioma of the choroid", "benign choroid angioma", "benign choroid hemangioma", "benign hemangioma of choroid", "benign hemangioma of the choroid", "choroid angioma", "choroid hemangioma", "hemangioma of optic choroid", "hemangioma of the choroid", "hemangioma, choroid, benign", "optic choroid hemangioma"], "xref": ["ICD9:228.09", "MEDGEN:83424", "NCIT:C4562", "SCTID:255022003", "UMLS:C0346390"]}
{"category": ["biolink:Disease"], "description": "A hemangioma that involves the gingiva.", "id": "MONDO:0021543", "name": "Hemangioma of gingiva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angioma of gingiva", "angioma of gum", "angioma of the gingiva", "angioma of the gum", "gingiva hemangioma", "gingival angioma", "gingival hemangioma", "gum angioma", "gum hemangioma", "hemangioma of gum", "hemangioma of the gingiva", "hemangioma of the gum"], "xref": ["ICD9:228.09", "MEDGEN:108426", "NCIT:C4831", "SCTID:304990002", "UMLS:C0582885"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.", "id": "MONDO:0021545", "name": "Myomatous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["muscle neoplasm", "muscle tumor", "muscle tumour", "myomatous neoplasm", "myomatous tumor", "myomatous tumour", "neoplasm of muscle", "neoplasm of the muscle", "tumor of muscle", "tumor of the muscle", "tumour of muscle", "tumour of the muscle"], "xref": ["MEDGEN:76477", "MESH:D009379", "MESH:D019042", "NCIT:C4063", "UMLS:C0282606"]}
{"category": ["biolink:Disease"], "description": "An ependymal tumor that arises from the spinal cord.", "id": "MONDO:0021546", "name": "Ependymal tumor of spinal cord", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ependymal tumor of spinal cord", "spinal cord ependymal tumor", "spinal cord ependymal tumour"], "xref": ["GARD:0025336", "MEDGEN:1389203", "NCIT:C131526", "UMLS:C4318747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021547", "name": "Amelogenesis imperfecta type 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI3B", "amelogenesis imperfecta, type 3B", "amelogenesis imperfecta, type IIIB"], "xref": ["DOID:0080243", "GARD:0018258", "MEDGEN:1621302", "OMIM:617607", "UMLS:C4539891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021548", "name": "Total early-onset cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "xref": ["GARD:0001159", "MEDGEN:75616", "Orphanet:98994", "UMLS:C0266539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021553", "name": "Transverse myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["transverse myelitis", "transverse myelopathy syndrome"], "xref": ["DOID:0080743", "ICD9:323.9", "MEDGEN:6488", "MedDRA:10028527", "SCTID:16631009", "UMLS:C0026976", "icd11.foundation:1328350091"]}
{"category": ["biolink:Disease"], "description": "Hemolytic anemia that is not mediated by immune mechanisms.", "id": "MONDO:0021559", "name": "Non-autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["non-autoimmune hemolytic anemia"], "xref": ["EFO:0005558", "GARD:0025337", "ICD9:283.10", "ICD9:283.19", "MEDGEN:45122", "NCIT:C34853", "SCTID:191216004", "UMLS:C0028283"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the umbilical cord stump in newborns.", "id": "MONDO:0021562", "name": "Omphalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["omphalitis"], "xref": ["GTR:AN0533760", "MEDGEN:508000", "NCIT:C116008", "SCTID:239095007", "UMLS:C0028992"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the renal tubule.", "id": "MONDO:0021568", "name": "Renal tubule disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of renal tubule", "disease or disorder of renal tubule", "disorder of renal tubule", "renal tubular disease", "renal tubular disorder", "renal tubule disease", "renal tubule disease or disorder"], "xref": ["EFO:0009566", "ICD9:588.89", "MEDGEN:57484", "SCTID:95568003", "UMLS:C0151747"]}
{"category": ["biolink:Disease"], "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.", "id": "MONDO:0021569", "name": "Emery-dreifuss muscular dystrophy 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDMD2", "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "Hauptmann-Thannhauser muscular dystrophy", "LGMD1B", "LMNA autosomal dominant limb-girdle muscular dystrophy", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "limb-girdle muscular dystrophy due to lamin A/C deficiency", "muscular dystrophy, limb-girdle type 1B", "proximal muscular dystrophy type 1B"], "xref": ["DOID:0070247", "DOID:0110301", "GARD:0010230", "ICD9:425.4", "MEDGEN:98048", "MESH:C535898", "NCIT:C126745", "OMIM:159001", "OMIM:181350", "Orphanet:264", "SCTID:240072005", "SCTID:718178006", "UMLS:C0410190"]}
{"category": ["biolink:Disease"], "description": "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.", "id": "MONDO:0021573", "name": "Oocyte maturation defect 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OOMD2", "TUBB8 inherited oocyte maturation defect", "inherited oocyte maturation defect caused by mutation in TUBB8", "oocyte maturation defect 2"], "xref": ["GARD:0018496", "MEDGEN:903836", "OMIM:616780", "UMLS:C4225210"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021574", "name": "Oocyte maturation defect 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OOMD3", "oocyte maturation defect 3"], "xref": ["MEDGEN:1617317", "OMIM:617712", "UMLS:C4540205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021575", "name": "Oocyte maturation defect 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OOMD4", "oocyte maturation defect 4"], "xref": ["GARD:0018497", "MEDGEN:1616340", "OMIM:617743", "UMLS:C4540284"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.", "id": "MONDO:0021576", "name": "Fallopian tube endometrioid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrium neoplasm of fallopian tube", "fallopian tube endometrioid neoplasm", "fallopian tube endometrioid tumor", "fallopian tube endometrium neoplasm"], "xref": ["MEDGEN:274486", "NCIT:C40111", "UMLS:C1517113"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021577", "name": "Malignant mediastinal neural neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant neuroma of mediastinum"], "xref": ["MEDGEN:578863", "SCTID:278044006", "UMLS:C0349665"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the sternum.", "id": "MONDO:0021578", "name": "Sternal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of sternum", "neoplasm of sternum (disease)", "neoplasm of sternum (disorder)", "neoplasm of the sternum", "sternal neoplasm", "sternal tumor", "sternal tumour", "sternum neoplasm", "sternum neoplasm (disease)", "sternum tumor", "sternum tumour", "tumor of sternum", "tumor of the sternum", "tumour of sternum", "tumour of the sternum"], "xref": ["ICD9:239.2", "MEDGEN:226935", "NCIT:C6730", "SCTID:126559003", "UMLS:C1290244"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the femur.", "id": "MONDO:0021579", "name": "Neoplasm of femur", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["femur neoplasm", "femur neoplasm (disease)", "femur tumor", "femur tumour", "neoplasm of femur", "tumor of femur", "tumour of femur"], "xref": ["GARD:0025338", "ICD9:239.2", "MEDGEN:8809", "SCTID:126583006", "UMLS:C0015807"]}
{"category": ["biolink:Disease"], "description": "A neoplasm (disease) that involves the jaw skeleton.", "id": "MONDO:0021580", "name": "Neoplasm of jaw", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["jaw skeleton neoplasm", "jaw skeleton neoplasm (disease)", "jaw skeleton tumor", "jaw skeleton tumour", "neoplasm of jaw skeleton", "tumor of jaw skeleton", "tumour of jaw skeleton"], "xref": ["GARD:0025339", "ICD9:239.89", "MEDGEN:43991", "SCTID:126634001", "UMLS:C0022364"]}
{"category": ["biolink:Disease"], "description": "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.", "id": "MONDO:0021581", "name": "Connective tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["connective tissue neoplasm", "connective tissue neoplasm (disease)", "connective tissue tumor", "connective tissue tumour", "neoplasm of connective tissue", "neoplasm of connective tissues", "tumor of connective tissue", "tumour of connective tissue"], "xref": ["ICD9:239.2", "MEDGEN:45035", "MESH:D009372", "SCTID:126598008", "UMLS:C0027656"]}
{"category": ["biolink:Disease"], "description": "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.", "id": "MONDO:0021582", "name": "Lentigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lentigines", "lentiginosis", "lentigo"], "xref": ["MEDGEN:7301", "MESH:D007911", "NCIT:C3159", "OMIM:150900", "SCTID:402624000", "UMLS:C0023321"]}
{"category": ["biolink:Disease"], "description": "A melanocytic neoplasm that involves the zone of skin.", "id": "MONDO:0021583", "name": "Melanocytic skin neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cutaneous melanocytic neoplasm", "melanocytic neoplasm of skin", "melanocytic neoplasm of zone of skin", "melanocytic skin neoplasm", "zone of skin melanocytic neoplasm"], "xref": ["MEDGEN:138096", "NCIT:C7161", "UMLS:C0349501"]}
{"category": ["biolink:Disease"], "description": "A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.", "id": "MONDO:0021588", "name": "Eyelid sebaceous gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["carcinoma of sebaceous gland of eyelid", "eyelid SGC", "eyelid sebaceous gland carcinoma", "sebaceous gland carcinoma of the eyelid", "sebaceous gland of eyelid carcinoma"], "xref": ["GARD:0025340", "MEDGEN:1612781", "NCIT:C134831", "Orphanet:658590", "UMLS:C4525405"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the upper or lower eyelid.", "id": "MONDO:0021605", "name": "Benign eyelid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign eyelid neoplasm", "benign eyelid tumor", "benign eyelid tumour", "benign neoplasm of eyelid", "benign neoplasm of the eyelid", "benign tumor of eyelid", "benign tumor of the eyelid", "benign tumour of eyelid", "benign tumour of the eyelid", "eyelid benign neoplasm"], "xref": ["MEDGEN:137911", "NCIT:C4354", "SCTID:231824001", "UMLS:C0339107"]}
{"category": ["biolink:Disease"], "description": "A seborrheic keratosis that involves the eyelid.", "id": "MONDO:0021607", "name": "Eyelid seborrheic keratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basal cell papilloma of eyelid", "basal cell papilloma of the eyelid", "eyelid basal cell papilloma", "eyelid seborrheic keratosis", "seborrheic keratosis of eyelid", "seborrheic keratosis of the eyelid"], "xref": ["MEDGEN:137912", "NCIT:C4356", "SCTID:231826004", "UMLS:C0339109"]}
{"category": ["biolink:Disease"], "description": "A capillary hemangioma arising from the eyelid.", "id": "MONDO:0021627", "name": "Eyelid capillary hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["capillary angioma of eyelid", "capillary angioma of lid", "capillary angioma of the eyelid", "capillary angioma of the lid", "capillary hemangioma of eyelid", "capillary hemangioma of lid", "capillary hemangioma of the eyelid", "capillary hemangioma of the lid", "eyelid capillary angioma", "eyelid capillary hemangioma"], "xref": ["MEDGEN:87379", "NCIT:C4357", "SCTID:231828003", "UMLS:C0339110"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.", "id": "MONDO:0021629", "name": "Uterine ligament neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neoplasm of the uterine ligament", "neoplasm of uterine ligament", "tumor of the uterine ligament", "tumor of uterine ligament", "tumour of the uterine ligament", "tumour of uterine ligament", "uterine ligament neoplasm", "uterine ligament neoplasm (disease)", "uterine ligament tumor", "uterine ligament tumour"], "xref": ["MEDGEN:276942", "NCIT:C40133", "UMLS:C1519870"]}
{"category": ["biolink:Disease"], "description": "A lipoma that involves the face.", "id": "MONDO:0021630", "name": "Lipoma of face", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["face lipoma"], "xref": ["ICD9:214.0", "MEDGEN:509492", "SCTID:93159009", "UMLS:C0153968"]}
{"category": ["biolink:Disease"], "description": "A astrocytoma (excluding glioblastoma) that involves the brain.", "id": "MONDO:0021631", "name": "Brain astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of brain", "brain astrocytoma", "brain astrocytoma (excluding glioblastoma)"], "xref": ["GARD:0025341", "MEDGEN:811330", "NCIT:C60780", "SCTID:254938000", "UMLS:C3695127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021632", "name": "Primary brain neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["primary brain neoplasm", "primary brain tumor", "primary brain tumour"], "xref": ["MEDGEN:152924", "NCIT:C170814", "NCIT:C4952", "ONCOTREE:PBT", "UMLS:C0750974"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma that arises from the cerebral hemispheres.", "id": "MONDO:0021633", "name": "Cerebral astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of cerebral hemisphere", "astrocytoma of cerebral hemispheres", "astrocytoma of cerebrum", "astrocytoma of the cerebral hemispheres", "astrocytoma of the cerebrum", "cerebral astrocytoma", "cerebral hemisphere astrocytoma (excluding glioblastoma)", "cerebral hemispheric astrocytoma"], "xref": ["GARD:0025342", "MEDGEN:196691", "NCIT:C4951", "SCTID:99131000119108", "UMLS:C0750935"]}
{"category": ["biolink:Disease"], "description": "A epithelial neoplasm that involves the zone of skin.", "id": "MONDO:0021634", "name": "Epithelial skin neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelial skin neoplasm", "epithelial skin tumor", "epithelial skin tumour", "skin epithelium neoplasm", "skin epithelium tumor", "skin epithelium tumour", "zone of skin epithelial neoplasm"], "xref": ["MEDGEN:91063", "NCIT:C7342", "UMLS:C0345976"]}
{"category": ["biolink:Disease"], "description": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.", "id": "MONDO:0021635", "name": "Neurocristopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["disorder of neural crest cell development", "disorder of neural crest development", "neural crest cell development disease"]}
{"category": ["biolink:Disease"], "description": "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.", "id": "MONDO:0021636", "name": "Astrocytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["astrocytic neoplasm", "astrocytic tumor", "astrocytoma, no ICD-O subtype", "astroglioma"], "xref": ["DOID:3069", "GARD:0012928", "MedDRA:10003571", "NCIT:C6958", "Orphanet:94"]}
{"category": ["biolink:Disease"], "description": "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.", "id": "MONDO:0021637", "name": "Low grade glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["benign glioma", "glioma, benign", "low grade glioma", "low-grade glioma"], "xref": ["DOID:0060101", "DOID:0080829", "GARD:0025343", "MEDGEN:744283", "NCIT:C132067", "UMLS:C1997217"]}
{"category": ["biolink:Disease"], "description": "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).", "id": "MONDO:0021638", "name": "Low grade astrocytic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["low grade astrocytic neoplasm", "low grade astrocytic tumor", "low-grade astrocytic neoplasm", "low-grade astrocytic tumor", "low-grade astrocytic tumour"], "xref": ["GARD:0025344", "NCIT:C116342"]}
{"category": ["biolink:Disease"], "description": "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.", "id": "MONDO:0021639", "name": "Grade ii glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade II glioma", "grade II glioma"], "xref": ["GARD:0025345", "MEDGEN:1391502", "NCIT:C132505", "UMLS:C4330050"]}
{"category": ["biolink:Disease"], "description": "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.", "id": "MONDO:0021640", "name": "Grade iii glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade III glioma", "anaplastic glioma"], "xref": ["GARD:0025346", "MEDGEN:925529", "NCIT:C127816", "UMLS:C4287997"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the bunyaviridae.", "id": "MONDO:0021641", "name": "Bunyaviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bunyaviridae caused disease or disorder", "Bunyaviridae disease or disorder", "Bunyaviridae infectious disease", "disease due to Bunyaviridae"], "xref": ["EFO:0007188", "MESH:D002044", "SCTID:105632002"]}
{"category": ["biolink:Disease"], "description": "A varicose disease that involves the mammalian vulva.", "id": "MONDO:0021642", "name": "Vulval varices", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mammalian vulva varicose disease", "varicose disease of mammalian vulva"], "xref": ["HP:0100677", "ICD10CM:I86.3", "ICD9:456.6", "MEDGEN:510083", "SCTID:48868008", "UMLS:C0155796", "icd11.foundation:53329171"]}
{"category": ["biolink:Disease"], "description": "A varicose disease that involves the mesentery.", "id": "MONDO:0021643", "name": "Mesenteric varices", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mesentery varicose disease", "varicose disease of mesentery"], "xref": ["HP:0002626", "MEDGEN:540965", "SCTID:22949006", "UMLS:C0267791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021644", "name": "Esophageal varices without bleeding", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["esophageal varices without bleeding"], "xref": ["ICD10CM:I85.00", "ICD9:456.1", "MEDGEN:540382", "SCTID:14223005", "UMLS:C0267092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021645", "name": "Esophageal varices with bleeding", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:I85.01", "ICD10WHO:I85.0", "ICD9:456.0", "MEDGEN:57840", "SCTID:17709002", "UMLS:C0155789"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.", "id": "MONDO:0021650", "name": "Uterine corpus neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["body of uterus NET", "body of uterus neuroendocrine neoplasm", "body of uterus neuroendocrine tumor", "body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade", "body of uterus neuroendocrine tumour", "neuroendocrine neoplasm of body of uterus", "uterine corpus neuroendocrine neoplasm", "uterine corpus neuroendocrine tumor", "uterine corpus neuroendocrine tumour"], "xref": ["GARD:0025347", "MEDGEN:925580", "NCIT:C126771", "UMLS:C4288048"]}
{"category": ["biolink:Disease"], "description": "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).", "id": "MONDO:0021651", "name": "Synpolydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["polysyndactyly", "syndactyly type 2", "synpolydactyly"], "xref": ["GARD:0005087", "MEDGEN:437845", "MESH:C538153", "NCIT:C125597", "NCIT:C75003", "Orphanet:93403", "SCTID:715724002", "SCTID:84598000", "UMLS:C2699746"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.", "id": "MONDO:0021652", "name": "Diffuse type adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["diffuse type adenocarcinoma", "diffuse type carcinoma"], "xref": ["ICDO:8145/3", "MEDGEN:87207", "NCIT:C4127", "UMLS:C0334280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021653", "name": "Cutaneous focal mucinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:701.8", "MEDGEN:590585", "SCTID:110981005", "UMLS:C0406659"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021654", "name": "Diffuse cutaneous mucinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:701.8", "MEDGEN:590581", "SCTID:238945000", "UMLS:C0406655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021655", "name": "Secondary catabolic mucinosis of skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:701.8", "MEDGEN:697525", "SCTID:402723003", "UMLS:C1274173"]}
{"category": ["biolink:Disease"], "description": "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.", "id": "MONDO:0021656", "name": "Nongerminomatous germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Nongerminomatous germ cell tumor", "Nongerminomatous germ cell tumor Including central nervous system", "Nongerminomatous germ cell tumour", "Nongerminomatous germ cell tumour Including central nervous system", "non-dysgerminomatous germ cell tumor", "non-dysgerminomatous germ cell tumour", "non-germinomatous germ cell tumor", "non-germinomatous germ cell tumour", "non-seminomatous germ cell tumor", "non-seminomatous germ cell tumour"], "xref": ["GARD:0010165", "MEDGEN:220426", "NCIT:C121619", "ONCOTREE:NSGCT", "UMLS:C1266158"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.", "id": "MONDO:0021657", "name": "Ovarian sex cord-stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Sex cord-stromal neoplasm of ovary", "Sex cord-stromal neoplasm of the ovary", "Sex cord-stromal tumor of ovary", "Sex cord-stromal tumor of the ovary", "Sex cord-stromal tumour of ovary", "Sex cord-stromal tumour of the ovary", "ovarian Sex cord-stromal neoplasm", "ovarian Sex cord-stromal tumor", "ovarian Sex cord-stromal tumour", "ovary sex cord-stromal tumor", "ovary sex cord-stromal tumour", "sex cord-stromal tumor of ovary", "sex cord-stromal tumour of ovary"], "xref": ["DOID:0080369", "GARD:0012285", "MEDGEN:154644", "NCIT:C4862", "ONCOTREE:SCST", "UMLS:C0600113"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021658", "name": "Vascular ectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vascular ectasia"], "xref": ["MEDGEN:8080", "NCIT:C45481", "UMLS:C0002959"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.", "id": "MONDO:0021659", "name": "Combined carcinoid and adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenocarcinoid neoplasm", "adenocarcinoid tumor", "adenocarcinoid tumour", "combined carcinoid and adenocarcinoma", "combined carcinoid neoplasm and adenocarcinoma", "combined carcinoid tumor and adenocarcinoma", "combined carcinoid tumour and adenocarcinoma", "composite carcinoid", "composite carcinoid neoplasm", "composite carcinoid tumor", "composite carcinoid tumour", "mixed carcinoid neoplasm", "mixed carcinoid tumor", "mixed carcinoid tumour"], "xref": ["GARD:0005741", "ICDO:8244/3", "ICDO:8245/3", "MEDGEN:83124", "MESH:C538230", "NCIT:C4139", "UMLS:C0334302"]}
{"category": ["biolink:Disease"], "description": "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.", "id": "MONDO:0021660", "name": "Deep seated dermatophytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["deep dermatophytosis", "deep seated dermatophytosis", "disseminated granulomatous dermatophytosis"], "xref": ["GARD:0021631", "MEDGEN:235599", "NCIT:C35073", "Orphanet:397587", "UMLS:C1395264"]}
{"category": ["biolink:Disease"], "description": "Atherosclerosis of the coronary vasculature.", "id": "MONDO:0021661", "name": "Coronary atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["arteriosclerosis disorder of coronary artery", "coronary artery arteriosclerosis (disease)", "coronary artery arteriosclerosis disorder", "coronary atherosclerosis"], "xref": ["DOID:0061139", "ICD9:414.00", "MEDGEN:3623", "NCIT:C35505", "SCTID:443502000", "UMLS:C0010054", "icd11.foundation:1280712786"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.", "id": "MONDO:0021662", "name": "Bile duct neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["bile duct neoplasm", "bile duct neoplasm (disease)", "bile duct tumor", "bile duct tumour", "intrahepatic and extrahepatic bile duct neoplasm", "intrahepatic and extrahepatic bile duct tumor", "intrahepatic and extrahepatic bile duct tumour", "neoplasm of bile duct", "tumor of bile duct", "tumour of bile duct"], "xref": ["MEDGEN:14114", "MESH:D001650", "NCIT:C2898", "UMLS:C0005396"]}
{"category": ["biolink:Disease"], "description": "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.", "id": "MONDO:0021663", "name": "Sarcomatoid squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epidermoid spindle cell carcinoma", "sarcomatoid squamous cell carcinoma", "spindle cell (sarcomatoid) squamous cell carcinoma", "squamous cell carcinoma, sarcomatoid", "squamous cell carcinoma, spindle cell", "squamous cell spindle cell carcinoma"], "xref": ["ICD9:199.1", "ICDO:8074/3", "NCIT:C27084", "SCTID:403900000"]}
{"category": ["biolink:Disease"], "description": "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.", "id": "MONDO:0021666", "name": "Ear infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Ear infection", "otitis"], "xref": ["MEDGEN:147064", "MESH:D010031", "NCIT:C27193", "UMLS:C0699744"]}
{"category": ["biolink:Disease"], "description": "A pain disorder characterize by pain in the distribution of a nerve or nerves", "id": "MONDO:0021667", "name": "Neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neuralgia"], "xref": ["EFO:0009430", "ICD9:729.2", "MEDGEN:18010", "MESH:D009437", "SCTID:16269008", "UMLS:C0027796"]}
{"category": ["biolink:Disease"], "description": "A disorder that follows infection but is distinct from the infection itself and its usual manifestations.", "id": "MONDO:0021669", "name": "Post-infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["sequela of infectious disorder"], "xref": ["ICD10CM:B90-B94", "ICD9:139.8", "MEDGEN:688819", "SCTID:123976001", "UMLS:C1264603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021670", "name": "Post-infectious syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021673", "name": "Post-bacterial disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:928118", "UMLS:C4302449"]}
{"category": ["biolink:Disease"], "description": "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.", "id": "MONDO:0021674", "name": "Post-viral disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sequela of viral disease"], "xref": ["ICD9:139.8", "MEDGEN:688821", "SCTID:123948009", "UMLS:C1264605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021677", "name": "Post-infectious neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["postinfectious neuralgia"], "xref": ["GARD:0025349", "ICD9:729.2", "MEDGEN:508062", "SCTID:17111003", "UMLS:C0032772"]}
{"category": ["biolink:Disease"], "description": "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.", "id": "MONDO:0021678", "name": "Gram-negative bacterial infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:041.85", "MEDGEN:88406", "MESH:D016905", "SCTID:371583007", "UMLS:C0085423"]}
{"category": ["biolink:Disease"], "description": "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.", "id": "MONDO:0021679", "name": "Gram-positive bacterial infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:041.89", "MEDGEN:39283", "MESH:D016908", "SCTID:371582002", "UMLS:C0085426"]}
{"category": ["biolink:Disease"], "description": "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.", "id": "MONDO:0021680", "name": "Streptococcal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Streptococcus caused disease or disorder", "Streptococcus disease or disorder", "Streptococcus infectious disease", "streptococcal infection"], "xref": ["EFO:1001476", "ICD9:041.00", "ICD9:041.09", "MEDGEN:20963", "MESH:D013290", "NCIT:C87062", "SCTID:85769006", "UMLS:C0038395"]}
{"category": ["biolink:Disease"], "description": "A Disease due to or propagated by sexual contact.", "id": "MONDO:0021681", "name": "Sexually transmitted disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["STD", "VD", "VD, venereal disease", "disease (VD), venereal", "sexually Transmitted disorder", "sexually transmitted disease", "venereal disease (VD)"], "xref": ["ICD10CM:A50-A64", "ICD9:099.8", "ICD9:099.9", "MEDGEN:11402", "MESH:D012749", "NCIT:C3365", "SCTID:8098009", "UMLS:C0036916"]}
{"category": ["biolink:Disease"], "description": "Viral diseases which are potentially transmitted or propagated by sexual conduct.", "id": "MONDO:0021682", "name": "Viral sexually transmitted disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["viral sexually transmitted disease"], "xref": ["MEDGEN:48646", "MESH:D015229", "UMLS:C0036918"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus CHLAMYDIA.", "id": "MONDO:0021697", "name": "Chlamydia infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Chlamydia caused disease or disorder", "Chlamydia disease or disorder", "Chlamydia infectious disease", "Chlamydophila caused disease or disorder", "Chlamydophila disease or disorder", "chlamydia infectious disease"], "xref": ["EFO:1000863", "ICD10CM:A70-A74", "MESH:D002690", "MESH:D023521"]}
{"category": ["biolink:Disease"], "description": "Disorders related to or resulting from abuse or mis-use of alcohol.", "id": "MONDO:0021698", "name": "Alcohol-related disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:68632", "MESH:D019973", "SCTID:29212009", "UMLS:C0236664"]}
{"category": ["biolink:Disease"], "description": "Disorders stemming from the misuse and abuse of alcohol.", "id": "MONDO:0021699", "name": "Alcohol-induced disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:65935", "MESH:D020751", "SCTID:719848005", "UMLS:C0236970"]}
{"category": ["biolink:Disease"], "description": "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)", "id": "MONDO:0021702", "name": "Alcohol amnestic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001759", "MEDGEN:1799", "MESH:D000425", "SCTID:73097000", "UMLS:C0001940"]}
{"category": ["biolink:Disease"], "description": "Inflammation of several peripheral nerves.", "id": "MONDO:0021718", "name": "Polyneuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyneuritis"], "xref": ["GTR:AN1353837", "GTR:AN1355640", "HP:0031003", "MEDGEN:46005", "NCIT:C26864", "SCTID:76886005", "UMLS:C0032541"]}
{"category": ["biolink:Disease"], "description": "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.", "id": "MONDO:0021722", "name": "Vulvodynia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["vulvodynia"], "xref": ["ICD10CM:N94.81", "ICD9:625.70", "MEDGEN:96066", "MESH:D056650", "SCTID:238968009", "UMLS:C0406670", "icd11.foundation:1539507119"]}
{"category": ["biolink:Disease"], "description": "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.", "id": "MONDO:0021723", "name": "Vaginismus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["myalgia of pelvic floor", "vaginismus"], "xref": ["ICD10CM:N94.2", "MEDGEN:412150", "MESH:D052065", "UMLS:C2004487"]}
{"category": ["biolink:Disease"], "description": "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..", "id": "MONDO:0021726", "name": "Abdominal cystic lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["abdomen cystic lymphangioma"], "xref": ["GARD:0000439", "MEDGEN:419287", "MESH:C535553", "NCIT:C27508", "UMLS:C2930929"]}
{"category": ["biolink:Disease"], "description": "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..", "id": "MONDO:0021727", "name": "Aberrant subclavian artery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aberrant subclavian artery", "congenital malposition of subclavian artery"], "xref": ["MEDGEN:98134", "MESH:C535555", "SCTID:93353003", "UMLS:C0431498"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the sigmoid colon and rectum.", "id": "MONDO:0021736", "name": "Proctosigmoiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["proctosigmoiditis"], "xref": ["ICD9:569.89", "MEDGEN:18653", "NCIT:C34950", "SCTID:41364008", "UMLS:C0033252"]}
{"category": ["biolink:Disease"], "description": "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)", "id": "MONDO:0021739", "name": "Prurigo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["prurigo", "pruritic rash"], "xref": ["ICD9:698.2", "ICD9:698.8", "MEDGEN:10986", "MESH:D011536", "SCTID:64144002", "UMLS:C0033771", "icd11.foundation:268810206"]}
{"category": ["biolink:Disease"], "description": "An infection occurring in puerperium, the period of 6-8 weeks after giving birth.", "id": "MONDO:0021742", "name": "Puerperal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001407", "MEDGEN:11022", "MESH:D011645", "UMLS:C0034041"]}
{"category": ["biolink:Disease"], "description": "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.", "id": "MONDO:0021745", "name": "Psychosocial short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1805840", "MESH:C535569", "SCTID:39465007", "UMLS:C1398540", "icd11.foundation:2088216390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021746", "name": "Pyelocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:18778", "MESH:D053653", "UMLS:C0034184"]}
{"category": ["biolink:Disease"], "description": "An infectious disease involving the Acanthamoeba.", "id": "MONDO:0021747", "name": "Acanthamoeba infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Acanthamoeba infection", "infection by Acanthamoeba"], "xref": ["SCTID:49649001"]}
{"category": ["biolink:Disease"], "description": "Pus within the collecting system of the kidney.", "id": "MONDO:0021750", "name": "Pyonephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pyonephrosis"], "xref": ["ICD10CM:N13.6", "MEDGEN:11051", "MESH:D053018", "NCIT:C123032", "SCTID:48631008", "UMLS:C0034216", "icd11.foundation:809412333"]}
{"category": ["biolink:Disease"], "description": "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women", "id": "MONDO:0021752", "name": "Achard-thiers syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:124410", "MESH:C536013", "SCTID:34041001", "UMLS:C0271732"]}
{"category": ["biolink:Disease"], "description": "Agranulocytosis that is autoimmune in origin.", "id": "MONDO:0021758", "name": "Acquired agranulocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Agranulocytosis, Acquired"], "xref": ["MEDGEN:115995", "MESH:C538171", "NORD:743", "SCTID:72050006", "UMLS:C0235585"]}
{"category": ["biolink:Disease"], "description": "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.", "id": "MONDO:0021759", "name": "Acquired fructose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired fructose intolerance"], "xref": ["MEDGEN:288539", "SCTID:413427002", "UMLS:C1531694"]}
{"category": ["biolink:Disease"], "description": "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.", "id": "MONDO:0021761", "name": "Acral dysostosis dyserythropoiesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.", "id": "MONDO:0021762", "name": "Acrocoxomesomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["acro-coxo-mesomelic dwarfism"]}
{"category": ["biolink:Disease"], "description": "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021764", "name": "Acrofacial dysostosis preis type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.", "id": "MONDO:0021765", "name": "Radiculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["radiculitis"], "xref": ["ICD9:729.2", "MEDGEN:11099", "NCIT:C78581", "SCTID:82473003", "UMLS:C0034544"]}
{"category": ["biolink:Disease"], "description": "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).", "id": "MONDO:0021777", "name": "Acute rheumatic heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute rheumatic heart disease"], "xref": ["ICD9:391.8", "ICD9:391.9", "MEDGEN:19779", "NCIT:C34985", "SCTID:312591002", "UMLS:C0035440", "icd11.foundation:535094176"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the throat due to Streptococcus pyogenes.", "id": "MONDO:0021783", "name": "Streptococcal sore throat", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["strep throat", "streptococcal pharyngitis"], "xref": ["ICD10CM:J02.0", "ICD9:034.0", "MEDGEN:508129", "NCIT:C116003", "SCTID:43878008", "UMLS:C0036689"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.", "id": "MONDO:0021804", "name": "Silicotuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["silicotuberculoses", "silicotuberculosis"], "xref": ["GARD:0025351", "ICD9:502", "MEDGEN:11426", "MESH:D012830", "SCTID:233763009", "UMLS:C0037118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021805", "name": "Acromesomelic dysplasia, campailla martinelli type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0000505", "MEDGEN:418955", "MESH:C535659", "UMLS:C2930969"]}
{"category": ["biolink:Disease"], "description": "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.", "id": "MONDO:0021808", "name": "Acute cholinergic dysautonomia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419684", "MESH:C535672", "UMLS:C2930973"]}
{"category": ["biolink:Disease"], "description": "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.", "id": "MONDO:0021809", "name": "Primary dysautonomia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["primary dysautonomia"], "xref": ["MESH:D054969"]}
{"category": ["biolink:Disease"], "description": "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.", "id": "MONDO:0021811", "name": "Acute mountain sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute mountain sickness"], "xref": ["ICD9:993.2", "MEDGEN:536790", "SCTID:78590007", "UMLS:C0238284"]}
{"category": ["biolink:Disease"], "description": "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.", "id": "MONDO:0021812", "name": "Adnexal spiradenoma/cylindroma of a sweat gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cylindroma", "cylindroma of skin", "cylindroma of the skin", "dermal cylindroma"], "xref": ["ICDO:8200/0", "NCIT:C27094", "SCTID:274903001"]}
{"category": ["biolink:Disease"], "description": "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.", "id": "MONDO:0021824", "name": "Adult progressive spinal muscular atrophy, aran duchenne type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "Infection with the less common aerobic antinomyces bacteria.", "id": "MONDO:0021826", "name": "Aerobic actinomyces infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0009779", "MEDGEN:419478", "MESH:C538054", "UMLS:C2931717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021829", "name": "Agnathia-microstomia-synotia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419145", "MESH:C538059", "UMLS:C2931718"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.", "id": "MONDO:0021834", "name": "Akaba hayasaka syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["MEDGEN:443940", "MESH:C535609", "UMLS:C2930948"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021836", "name": "Aksu von stockhausen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "synonym": ["aksu von stockhausen syndrome"], "xref": ["MEDGEN:419676", "MESH:C535611", "UMLS:C2930949"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021838", "name": "Al gazali khidr prem chandran syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0000586", "MEDGEN:419678", "MESH:C535616", "UMLS:C2930951"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the order SPIROCHAETALES.", "id": "MONDO:0021839", "name": "Spirochaetales infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0009567", "MEDGEN:11556", "MESH:D013145", "UMLS:C0037974"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021845", "name": "Aloi tomasini isaia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "synonym": ["basal cell nevus anodontia abnormal bone mineralization"], "xref": ["GARD:0000417", "MEDGEN:419073", "MESH:C537049", "UMLS:C2931405"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.", "id": "MONDO:0021851", "name": "Alopecia universalis onychodystrophy vitiligo", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000615", "MEDGEN:444049", "MESH:C537056", "UMLS:C2931408"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.", "id": "MONDO:0021856", "name": "Alsing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444013", "MESH:C536588", "UMLS:C2931255"]}
{"category": ["biolink:Disease"], "description": "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.", "id": "MONDO:0021879", "name": "Small cell variant anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["small cell variant anaplastic large cell lymphoma", "small cell variant of anaplastic large cell lymphoma"], "xref": ["GARD:0009477", "MEDGEN:234787", "MESH:C538255", "NCIT:C7208", "UMLS:C1335983"]}
{"category": ["biolink:Disease"], "description": "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.", "id": "MONDO:0021895", "name": "Temporomandibular joint dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["temporomandibular joint dysfunction syndrome"], "xref": ["MEDGEN:21093", "MESH:D013706", "NCIT:C35066", "UMLS:C0039496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021896", "name": "Anterior spinal artery stroke", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419851", "MESH:C537776", "UMLS:C2931608"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.", "id": "MONDO:0021902", "name": "Aortopulmonary window", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AP window", "APSD", "APW", "aortopulmonary septal defect", "aortopulmonary window"], "xref": ["HP:0011604", "ICD10CM:Q21.4", "MEDGEN:365", "MESH:D001028", "NANDO:2100082", "NANDO:2200262", "NCIT:C101050", "SCTID:17024001", "UMLS:C0003516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021905", "name": "Apert-like polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Aplasia cutis with autosomal recessive inheritance.", "id": "MONDO:0021907", "name": "Aplasia cutis autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.", "id": "MONDO:0021908", "name": "Aplasia cutis congenita dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.", "id": "MONDO:0021913", "name": "Aquagenic pruritus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aquagenic pruritus"], "xref": ["ICD9:698.8", "MEDGEN:98026", "SCTID:238695001", "UMLS:C0406409", "icd11.foundation:1090223712"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.", "id": "MONDO:0021915", "name": "Arakawa syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Arakawa syndrome II", "Arakawa's syndrome 2", "Arakawa's syndrome II", "homocystinuria-megaloblastic Anemia, cblG complementation type", "methionine synthase deficiency", "methylcobalamin deficiency, cblG type", "tetrahydrofolate methyltransferase deficiency"], "xref": ["GARD:0008265", "MEDGEN:75697", "MESH:C537426", "NANDO:2201111", "NCIT:C99081", "SCTID:89579000", "UMLS:C0268611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021918", "name": "Arena syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444068", "MESH:C537428", "UMLS:C2931491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021921", "name": "Arnold stickler bourne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000366", "MEDGEN:419426", "MESH:C537431", "UMLS:C2931492"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021923", "name": "Arroyo garcia cimadevilla syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "xref": ["MEDGEN:419817", "MESH:C537439", "UMLS:C2931494"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the tracheobronchial tree.", "id": "MONDO:0021925", "name": "Tracheobronchitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["tracheobronchitis"], "xref": ["MEDGEN:508208", "NCIT:C122784", "SCTID:13617004", "UMLS:C0040586", "icd11.foundation:1889351414"]}
{"category": ["biolink:Disease"], "description": "Myositis Ossificans resulting from trauma.", "id": "MONDO:0021929", "name": "Traumatic myositis ossificans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["traumatic myositis ossificans"], "xref": ["GARD:0025353", "ICD9:728.12", "MEDGEN:11895", "NCIT:C35081", "SCTID:70917000", "UMLS:C0040798"]}
{"category": ["biolink:Disease"], "description": "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.", "id": "MONDO:0021932", "name": "Infection by trypanosoma gambiense", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Infection by Trypanosoma gambiense"], "xref": ["GARD:0025354", "ICD9:086.3", "MEDGEN:11933", "NCIT:C35084", "SCTID:75809006", "UMLS:C0041232"]}
{"category": ["biolink:Disease"], "description": "A infectious disease involving the Aspergillus niger.", "id": "MONDO:0021935", "name": "Aspergillus niger infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Aspergillus niger infection"], "xref": ["GARD:0009716", "MEDGEN:82916", "MESH:C535390", "UMLS:C0276657"]}
{"category": ["biolink:Disease"], "description": "An infection with Trypanosoma brucei rhodesiense.", "id": "MONDO:0021941", "name": "Infection by trypanosoma rhodesiense", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["infection by trypanosoma rhodesiense", "rhodesian trypanosomiasis"], "xref": ["GARD:0025355", "ICD9:086.4", "MEDGEN:11934", "NCIT:C35085", "SCTID:42872003", "UMLS:C0041233"]}
{"category": ["biolink:Disease"], "description": "A tumor-like mass resulting from the enlargement of a tuberculous lesion.", "id": "MONDO:0021943", "name": "Tuberculoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025356", "MEDGEN:52881", "MESH:D014375", "SCTID:15202009", "UMLS:C0041295"]}
{"category": ["biolink:Disease"], "description": "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.", "id": "MONDO:0021944", "name": "Auditory neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANSD", "auditory dys-synchrony", "auditory neuropathy", "auditory neuropathy spectrum disorder"], "xref": ["GARD:0009274", "MEDGEN:338895", "MESH:C538268", "NCIT:C116364", "OMIMPS:609129", "SCTID:443805006", "UMLS:C1852271"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.", "id": "MONDO:0021945", "name": "Hearing disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hearing disorder"], "xref": ["MEDGEN:82636", "MESH:D006311", "NCIT:C3078", "SCTID:128540005", "UMLS:C0260662"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021948", "name": "Cutaneous tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous tuberculosis", "tuberculosis of skin"], "xref": ["GARD:0025357", "MEDGEN:22515", "SCTID:66986005", "UMLS:C0041309", "icd11.foundation:625292625"]}
{"category": ["biolink:Disease"], "description": "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.", "id": "MONDO:0021950", "name": "Autoimmune oophoritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:163900", "MESH:C538274", "UMLS:C0878654"]}
{"category": ["biolink:Disease"], "description": "Progestogen hypersensitivity (PH), also referred to as autoimmune progesterone dermatitis (APD), is a rare immediate or delayed hypersensitivity reaction to endogenous progesterone and/or synthetic progestins characterized by diverse cutaneous manifestations, bronchospasm, and/or anaphylaxis.", "id": "MONDO:0021952", "name": "Progestogen hypersensitivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["APD", "PH", "autoimmune progesterone dermatitis", "autoimmune progesterone dermatitis/urticaria"], "xref": ["ICD9:708.8", "MEDGEN:220359", "MESH:C535299", "SCTID:400009001", "UMLS:C1260879"]}
{"category": ["biolink:Disease"], "description": "Scarring of the lung parenchyma caused by pulmonary tuberculosis.", "id": "MONDO:0021953", "name": "Tuberculous fibrosis of lung", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tuberculous fibrosis of lung"], "xref": ["GARD:0025358", "ICD9:011.40", "ICD9:011.41", "ICD9:011.42", "ICD9:011.43", "ICD9:011.44", "ICD9:011.46", "MEDGEN:21729", "NCIT:C35088", "SCTID:90117007", "UMLS:C0041336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021957", "name": "Autosomal recessive nonsyndromic congenital nuclear cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025359", "MEDGEN:419085", "MESH:C537298", "UMLS:C2931470"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic inflammatory process affecting the ureter.", "id": "MONDO:0021960", "name": "Ureteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ureteritis"], "xref": ["MEDGEN:21777", "NCIT:C78666", "SCTID:111405003", "UMLS:C0041959", "icd11.foundation:817532938"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021962", "name": "Baetz-greenwalt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444099", "MESH:C537795", "UMLS:C2931615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021964", "name": "Bagatelle cassidy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0000398", "MEDGEN:444100", "MESH:C537796", "UMLS:C2931616"]}
{"category": ["biolink:Disease"], "description": "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0021966", "name": "Baker vinters syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "xref": ["MEDGEN:419861", "MESH:C537899", "UMLS:C2931659"]}
{"category": ["biolink:Disease"], "description": "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.", "id": "MONDO:0021977", "name": "Basaloid follicular hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["basal cell nevus with comedones", "basaloid follicular hamartoma"], "xref": ["ICD9:706.1", "MEDGEN:96887", "NCIT:C4749", "SCTID:254705003", "UMLS:C0474964", "icd11.foundation:648125144"]}
{"category": ["biolink:Disease"], "description": "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.", "id": "MONDO:0021979", "name": "Basaran yilmaz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419444", "MESH:C537660", "UMLS:C2931577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0021994", "name": "Berk-tabatznik syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0005109", "MEDGEN:443928", "MESH:C535432", "UMLS:C2930899"]}
{"category": ["biolink:Disease"], "description": "A condition resulting from the excessive retention of water with sodium depletion.", "id": "MONDO:0022007", "name": "Water intoxication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["water intoxication syndrome"], "xref": ["MEDGEN:53061", "MESH:D014869", "SCTID:71785001", "UMLS:C0043049"]}
{"category": ["biolink:Disease"], "description": "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.", "id": "MONDO:0022011", "name": "Bobble-head doll syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443985", "MESH:C536241", "UMLS:C2931137"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.", "id": "MONDO:0022013", "name": "Boerhaave syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Boerhaave syndrome", "spontaneous rupture of esophagus", "spontaneous rupture of oesophagus"], "xref": ["MEDGEN:65948", "MESH:C536571", "SCTID:19995004", "UMLS:C0238115"]}
{"category": ["biolink:Disease"], "description": "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions", "id": "MONDO:0022020", "name": "Boudhina yedes khiari syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419467", "MESH:C537939", "UMLS:C2931668"]}
{"category": ["biolink:Disease"], "description": "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.", "id": "MONDO:0022022", "name": "Bowenoid papulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Bowenoid papulosis", "bowenoid papulosis"], "xref": ["GARD:0005951", "ICD9:447.8", "MEDGEN:137721", "NCIT:C8374", "NORD:870", "SCTID:402913004", "UMLS:C0334106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022025", "name": "Boylan dew greco syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000954", "MEDGEN:419407", "MESH:C537083", "UMLS:C2931419"]}
{"category": ["biolink:Disease"], "description": "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.", "id": "MONDO:0022034", "name": "Lentivirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001357", "MEDGEN:38233", "MESH:D016180", "UMLS:C0079680"]}
{"category": ["biolink:Disease"], "description": "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.", "id": "MONDO:0022037", "name": "Large-cell immunoblastic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0008219", "MEDGEN:86955", "MESH:D016400", "UMLS:C0079746"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022055", "name": "Calabro syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008584", "MEDGEN:163240", "MESH:C537960", "UMLS:C0796276"]}
{"category": ["biolink:Disease"], "description": "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.", "id": "MONDO:0022057", "name": "Calcifying epithelial odontogenic tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["Pindborg tumor", "Pindborg tumour", "calcifying epithelial odontogenic tumor"], "xref": ["GARD:0027904", "ICDO:9340/0", "MEDGEN:87266", "MESH:C537961", "NCIT:C54301", "UMLS:C0334574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022060", "name": "Calloso-genital dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027362", "MEDGEN:419867", "MESH:C537962", "UMLS:C2931677"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022067", "name": "Cantu sanchez-corona fragoso syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419290", "MESH:C535571", "UMLS:C2930937"]}
{"category": ["biolink:Disease"], "description": "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies", "id": "MONDO:0022070", "name": "Cantu sanchez-corona hernandez syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.", "id": "MONDO:0022071", "name": "Carbon baby syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:98349", "SCTID:238700008", "UMLS:C0406419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022089", "name": "Carnevale hernandez castillo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419672", "MESH:C535585", "UMLS:C2930940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022094", "name": "Cartwright nelson fryns syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443968", "MESH:C535917", "UMLS:C2931062"]}
{"category": ["biolink:Disease"], "description": "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.", "id": "MONDO:0022096", "name": "Pyogenic granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD10CM:L98.0", "MEDGEN:39085", "MESH:D017789", "NCIT:C3480", "SCTID:200722003", "UMLS:C0085653", "icd11.foundation:440675859"]}
{"category": ["biolink:Disease"], "description": "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.", "id": "MONDO:0022098", "name": "Catamenial pneumothorax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["catamenial pneumothorax"], "xref": ["MEDGEN:83298", "MESH:C538279", "SCTID:233642001", "UMLS:C0340007", "icd11.foundation:1744257132"]}
{"category": ["biolink:Disease"], "description": "An infectious or non-infectious chronic inflammatory process that affects the prostate gland.", "id": "MONDO:0022103", "name": "Chronic prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic prostatitis"], "xref": ["ICD10CM:N41.1", "ICD9:601.1", "MEDGEN:88454", "NCIT:C26930", "SCTID:19905009", "UMLS:C0085696", "icd11.foundation:249426483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022113", "name": "Central centrifugal cicatricial alopecia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["central centrifugal cicatricial alopecia"], "xref": ["GARD:0010826", "ICD9:704.09", "MEDGEN:698033", "OMIM:618352", "SCTID:109441000119102", "UMLS:C1274708"]}
{"category": ["biolink:Disease"], "description": "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.", "id": "MONDO:0022140", "name": "Charles bonnet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["charles bonnet syndrome"], "xref": ["MEDGEN:137926", "MESH:D000075562", "SCTID:193756007", "UMLS:C0339731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022151", "name": "Chitty hall webb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:418975", "MESH:C535929", "SCTID:725103004", "UMLS:C2931066"]}
{"category": ["biolink:Disease"], "description": "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.", "id": "MONDO:0022171", "name": "Chromhidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chromhidrosis"], "xref": ["ICD10CM:L75.1", "ICD9:705.89", "MEDGEN:82667", "SCTID:26147006", "UMLS:C0263473", "icd11.foundation:864449620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022173", "name": "Chromosome 11q trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["11q duplication", "11q trisomy", "Duplication 11q", "chromosome 11q duplication", "partial duplication of chromosome 11q", "partial duplication of the long arm of chromosome 11", "partial duplication of the long arm of chromosome type 11", "partial trisomy 11q", "partial trisomy of chromosome 11q", "partial trisomy of the long arm of chromosome 11", "trisomy 11q"], "xref": ["GARD:0020882", "MEDGEN:167075", "MESH:C538297", "Orphanet:262923", "UMLS:C0795842"]}
{"category": ["biolink:Disease"], "description": "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.", "id": "MONDO:0022174", "name": "Chromosome 12p deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial deletion of chromosome 12p", "partial deletion of the short arm of chromosome 12", "partial deletion of the short arm of chromosome type 12", "partial monosomy of chromosome 12p", "partial monosomy of the short arm of chromosome 12"], "xref": ["GARD:0021404", "MEDGEN:208640", "MESH:C538301", "MESH:C538302", "NCIT:C36410", "Orphanet:316244", "UMLS:C0795844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022177", "name": "Chromosome 13q trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["13q duplication", "13q trisomy", "Duplication 13q", "chromosome 13q duplication", "partial duplication of chromosome 13q", "partial duplication of the long arm of chromosome 13", "partial duplication of the long arm of chromosome type 13", "partial trisomy 13q", "partial trisomy of chromosome 13q", "partial trisomy of the long arm of chromosome 13", "trisomy 13q"], "xref": ["GARD:0020883", "MEDGEN:162780", "MESH:C535485", "Orphanet:262932", "UMLS:C0795849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022178", "name": "Chromosome 13q-mosaicism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025360", "MEDGEN:443931", "MESH:C535486", "UMLS:C2930915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022180", "name": "Chromosome 16 trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0007060", "MEDGEN:276900", "NCIT:C37866", "UMLS:C1519651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022196", "name": "Chronic erosive gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic erosive gastritis"], "xref": ["ICD9:535.40", "MEDGEN:78626", "SCTID:63137003", "UMLS:C0267145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022205", "name": "Pustular psoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pustular psoriasis"], "xref": ["ICD9:696.1", "MEDGEN:508876", "NANDO:1200240", "NANDO:2100285", "NANDO:2201001", "SCTID:200973000", "UMLS:C0152081", "icd11.foundation:64081271"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022208", "name": "Crystal arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["crystal arthropathy"], "xref": ["ICD9:712", "ICD9:712.80", "ICD9:712.88", "ICD9:712.90", "ICD9:712.98", "MEDGEN:508879", "SCTID:18834007", "UMLS:C0152087"]}
{"category": ["biolink:Disease"], "description": "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.", "id": "MONDO:0022220", "name": "Parinaud syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Parinaud syndrome", "Parinaud's syndrome", "Parinauds syndrome", "syndrome, Parinaud", "syndrome, Parinaud's"], "xref": ["MEDGEN:57754", "NCIT:C54102", "SCTID:37991008", "UMLS:C0152222"]}
{"category": ["biolink:Disease"], "description": "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.", "id": "MONDO:0022236", "name": "Colpocephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:98131", "MESH:C535973", "SCTID:253160006", "UMLS:C0431384", "icd11.foundation:845275248"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.", "id": "MONDO:0022293", "name": "Vascular disorder of penis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["penile vascular disorder"], "xref": ["ICD9:607.82", "MEDGEN:102349", "NCIT:C35218", "SCTID:198029003", "UMLS:C0156307"]}
{"category": ["biolink:Disease"], "description": "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.", "id": "MONDO:0022308", "name": "Corticobasal degeneration disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cortical basal ganglionic degeneration", "corticobasal degeneration"], "xref": ["GARD:0000046", "ICD10CM:G31.85", "MEDGEN:95979", "NANDO:1200011", "NCIT:C129069", "SCTID:18842008", "UMLS:C0393570"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022311", "name": "Cote katsantoni syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001554", "MEDGEN:419356", "MESH:C536449", "UMLS:C2931195"]}
{"category": ["biolink:Disease"], "description": "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.", "id": "MONDO:0022316", "name": "Hair defect with photosensitivity and intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome"], "synonym": ["Calderon Gonzalez-Cantu syndrome", "Calderón-González-Cantu syndrome", "hair defect with photosensitivity and intellectual disability syndrome", "hair defect-photosensitivity-intellectual disability syndrome"], "xref": ["MEDGEN:383868", "MESH:C537628", "OMIM:234030", "Orphanet:1408", "SCTID:721007005", "UMLS:C1856241"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022321", "name": "2-methylacetoacetyl coa thiolase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008382", "MEDGEN:419652", "MESH:C535307", "UMLS:C2930874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022323", "name": "2-hydroxyethyl methacrylate sensitization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443922", "MESH:C535305", "UMLS:C2930873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022330", "name": "4-hydroxyphenylacetic aciduria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008155", "MEDGEN:376417", "MESH:C535315", "UMLS:C1848680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022333", "name": "5-nucleotidase syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008242", "MEDGEN:419653", "MESH:C535321", "UMLS:C2930876"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022337", "name": "Aids dysmorphic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1843488", "UMLS:C5243926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022338", "name": "Alk+ histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.", "id": "MONDO:0022349", "name": "Congenital absence of septum pellucidum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["absence of septum pellucidum"], "xref": ["GARD:0009253", "ICD9:742.4", "MEDGEN:96561", "MESH:C535562", "SCTID:253143001", "UMLS:C0431371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022357", "name": "Congenital acardia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["acardia"], "xref": ["GARD:0009823", "ICD9:759.89", "MEDGEN:91032", "SCTID:205834002", "UMLS:C0344580"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.", "id": "MONDO:0022380", "name": "Acute lymphoblastic leukemia congenital sporadic aniridia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022394", "name": "Cervical intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009244", "MEDGEN:60214", "NCIT:C3782", "SCTID:285636001", "UMLS:C0206708"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.", "id": "MONDO:0022398", "name": "Aglossia and situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.", "id": "MONDO:0022401", "name": "Agyria pachygyria polymicrogyria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.", "id": "MONDO:0022402", "name": "Agyria-pachygyria type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["Bielchowsky type of lissencephaly", "type I lissencephaly"], "xref": ["NANDO:1201068", "NANDO:1201069"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.", "id": "MONDO:0022403", "name": "Ahumada del castillo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022410", "name": "Retinal ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0019987", "MEDGEN:1843204", "Orphanet:156165", "UMLS:C5680651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022417", "name": "Alopecia congenita keratosis palmoplantaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025361", "MEDGEN:354901", "MESH:C537050", "UMLS:C1863093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022424", "name": "Alpha-mannosidosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025362", "MEDGEN:419756", "MESH:C536584", "NANDO:1200127", "NANDO:2201188", "SCTID:62311004", "UMLS:C2931251"]}
{"category": ["biolink:Disease"], "description": "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.", "id": "MONDO:0022428", "name": "Aluminosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aluminosis of lung", "pulmonary aluminosis"], "xref": ["ICD10CM:J63.0", "MEDGEN:452403", "SCTID:90623003", "UMLS:C0311227"]}
{"category": ["biolink:Disease"], "description": "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.", "id": "MONDO:0022430", "name": "Persistent fetal circulation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["PPHN", "persistent fetal circulation", "persistent foetal circulation", "persistent pulmonary hypertension of the newborn"], "xref": ["EFO:1001103", "GARD:0027905", "ICD10CM:P29.3", "MEDGEN:45824", "MESH:D010547", "NCIT:C85006", "SCTID:206597007", "SCTID:233815004", "SCTID:35604006", "UMLS:C0031190", "icd11.foundation:346808536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022432", "name": "Alves castelo dos santos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025363", "MEDGEN:419758", "MESH:C536593", "UMLS:C2931256"]}
{"category": ["biolink:Disease"], "description": "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.", "id": "MONDO:0022435", "name": "Mauriac syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mauriac syndrome", "Mauriac's syndrome"], "xref": ["GTR:AN0543843", "GTR:AN0543890", "ICD9:258.1", "MEDGEN:526123", "NCIT:C130997", "SCTID:80660001", "UMLS:C0221005"]}
{"category": ["biolink:Disease"], "description": "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.", "id": "MONDO:0022444", "name": "Amyloidosis bronchopulmonary", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.", "id": "MONDO:0022453", "name": "Angiomyomatous hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:450938", "UMLS:C2959445"]}
{"category": ["biolink:Disease"], "description": "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.", "id": "MONDO:0022454", "name": "Angiosarcoma of the scalp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["angiosarcoma (disease) of scalp", "scalp angiosarcoma (disease)"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022456", "name": "Ankle defects short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022457", "name": "Ankyloblepharon filiforme imperforate anus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.", "id": "MONDO:0022458", "name": "Annular constricting bands", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.", "id": "MONDO:0022461", "name": "Anophthalmia cleft palate micrognathia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0022462", "name": "Anophthalmia esophageal atresia cryptorchidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.", "id": "MONDO:0022465", "name": "Anotia facial palsy cardiac defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.", "id": "MONDO:0022468", "name": "Antigen-peptide-transporter 2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["antigen processing (TAP) deficiency syndrome"], "xref": ["GARD:0000732"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.", "id": "MONDO:0022470", "name": "Aortic dissection lentiginosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022471", "name": "Childhood aortic valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022481", "name": "Apo a-i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.", "id": "MONDO:0022496", "name": "Arthrogryposis iugr thoracic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.", "id": "MONDO:0022500", "name": "Arthrogryposis multiplex congenita cns calcification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022504", "name": "Arthrogryposis spinal muscular atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.", "id": "MONDO:0022509", "name": "Asternia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:869485", "UMLS:C4023912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022510", "name": "Atlanto-axial fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MESH:C538196"]}
{"category": ["biolink:Disease"], "description": "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.", "id": "MONDO:0022513", "name": "Atrophoderma of pierini and pasini", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005866", "ICD10CM:L90.3", "MEDGEN:854615", "Orphanet:658810", "SCTID:711524008", "UMLS:C3887897"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.", "id": "MONDO:0022518", "name": "Autoimmune inner ear disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:583162", "UMLS:C0395947", "icd11.foundation:1392879169"]}
{"category": ["biolink:Disease"], "description": "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.", "id": "MONDO:0022519", "name": "Autoimmune myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080767", "GARD:0009519", "MEDGEN:299070", "UMLS:C1608389"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022529", "name": "Bk-virus nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["BK virus nephropathy", "BKN", "Polyomavirus nephropathy", "kidney disease caused by BK polyomavirus", "nephropathy caused by BK polyomavirus", "nephropathy from BK virus"], "xref": ["DOID:0040086", "GARD:0010470", "ICD9:079.89", "MEDGEN:352157", "SCTID:713886006", "UMLS:C1697878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022535", "name": "Autonomic facial cephalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carotidynia"], "xref": ["ICD9:337.09", "MEDGEN:536866", "SCTID:230482003", "UMLS:C0238902"]}
{"category": ["biolink:Disease"], "description": "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.", "id": "MONDO:0022538", "name": "Leukoplakia of gingiva", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gingival leukoplakia", "leukoplakia of gingiva"], "xref": ["ICD9:528.6", "MEDGEN:66795", "NCIT:C3881", "SCTID:32236000", "UMLS:C0239737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022545", "name": "Barnicoat baraitser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.", "id": "MONDO:0022551", "name": "Basedow's coma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022552", "name": "Bazopoulou kyrkanidou syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000839", "MEDGEN:444091", "MESH:C537664", "UMLS:C2931580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022553", "name": "Bd syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022555", "name": "Beardwell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419446", "MESH:C537665", "UMLS:C2931581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022557", "name": "Behrens baumann dust syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Behrens-Baumann-Vogel syndrome", "oculo-cerebral dysplasia"], "xref": ["GARD:0004021", "MEDGEN:444092", "MESH:C537670", "UMLS:C2931582"]}
{"category": ["biolink:Disease"], "description": "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.", "id": "MONDO:0022559", "name": "Benign angiitis of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0008704"]}
{"category": ["biolink:Disease"], "description": "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.", "id": "MONDO:0022560", "name": "Benign metastasizing leiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:307261", "UMLS:C1511090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022567", "name": "Bhaskar jagannathan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419280", "MESH:C535437", "UMLS:C2930901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022568", "name": "Bidirectional tachycardia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:418944", "MESH:C535438", "UMLS:C2930902"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022572", "name": "Bilateral renal agenesis dominant type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022573", "name": "Biliary atresia intrahepatic non syndromic form", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022574", "name": "Biliary atresia intrahepatic syndromic form", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022576", "name": "Bilirubin induced brain injury in the newborn", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma of the bladder that occurs during childhood.", "id": "MONDO:0022578", "name": "Childhood bladder carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["childhood bladder cancer", "childhood bladder carcinoma"], "xref": ["GARD:0027906", "MEDGEN:859269", "NCIT:C118816", "UMLS:C3899675"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.", "id": "MONDO:0022580", "name": "Blepharo naso facial syndrome van maldergem type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022586", "name": "Bone dysplasia moore type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022587", "name": "Bone dysplasia corpus callosum agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022598", "name": "Brachydactyly absence of distal phalanges", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022599", "name": "Brachydactyly anonychia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022602", "name": "Brachydactyly small stature face anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022603", "name": "Brachydactyly tibial hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the pharyngeal system development.", "id": "MONDO:0022606", "name": "Branchial arch disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["disease of pharyngeal system development", "disorder of pharyngeal system development", "pharyngeal system development disease"]}
{"category": ["biolink:Disease"], "description": "A Brenner tumor that involves the vagina.", "id": "MONDO:0022607", "name": "Extraovarian brenner tumor of the vagina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["extraovarian Brenner tumor of the vagina", "vagina Brenner tumor", "vagina Brenner tumour"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022608", "name": "Brittle bone syndrome lethal type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022609", "name": "Bronchial adenomas/carcinoids childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:861863", "UMLS:C4013426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022610", "name": "Bronchiectasis oligospermia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022611", "name": "Brunoni syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001032", "MEDGEN:444066", "MESH:C537408", "UMLS:C2931486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022612", "name": "Brunsting-perry syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:725587", "UMLS:C1304226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022613", "name": "Bruyn scheltens syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022615", "name": "Burn goodship syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022618", "name": "Burning mouth syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008558", "MEDGEN:419423", "MESH:C537413", "UMLS:C2931487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022622", "name": "Congenital disorder of glycosylation syndrome type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["CDG syndrome type 4", "congenital disorder of glycosylation syndrome type 4"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022623", "name": "Cdk4 linked melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022633", "name": "Camptodactyly joint contractures and facial skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419868", "MESH:C537969", "UMLS:C2931678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022634", "name": "Camptodactyly vertebral fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444116", "MESH:C537973", "UMLS:C2931682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022636", "name": "Candida glabrata infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["candida glabrata"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022639", "name": "Cantu sanchez-corona garcia-cruz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoid tumor that occurs during childhood.", "id": "MONDO:0022642", "name": "Childhood carcinoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoid tumor (disease) of childhood", "carcinoid tumour (disease) of childhood", "childhood carcinoid tumor", "childhood carcinoid tumor (disease)", "childhood carcinoid tumour (disease)", "paediatric carcinoid tumour (disease)", "pediatric carcinoid tumor (disease)"], "xref": ["GARD:0009315", "MEDGEN:859267", "NCIT:C118810", "UMLS:C3899673"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that involves the laryngeal vocal fold.", "id": "MONDO:0022643", "name": "Carcinoma of the vocal tract", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of laryngeal vocal fold", "laryngeal vocal fold carcinoma"], "xref": ["GARD:0027907"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022644", "name": "Cardiac hydatid cysts with intracavitary expansion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022645", "name": "Cardioencephalomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022646", "name": "Cardiofacial syndrome short limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022647", "name": "Cardiomelic syndrome stratton koehler type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.", "id": "MONDO:0022648", "name": "Cardiomyopathy and deafness due to trna lysine gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiomyopathy and deafness due to tRNA lysine gene mutation"], "xref": ["GTR:AN0103738", "GTR:AN0103739", "HGNC:7489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022650", "name": "Cardiomyopathy diabetes deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022653", "name": "Cardiomyopathy due to anthracyclines", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0001107", "MEDGEN:1755373", "UMLS:C5437452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022654", "name": "Cardiomyopathy hypogonadism collagenoma syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:354607", "MESH:C535582", "UMLS:C1861860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022655", "name": "Cardiomyopathy hypogonadism metabolic anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022656", "name": "Cardiomyopathy spherocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022662", "name": "Carpo tarsal osteolysis recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.", "id": "MONDO:0022666", "name": "Cassavism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["konzo", "mantakassa"]}
{"category": ["biolink:Disease"], "description": "A syndromic cataract that has autosomal dominant inheritance.", "id": "MONDO:0022672", "name": "Autosomal dominant cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022673", "name": "Autosomal dominant non-nuclear cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:318648", "MESH:C538284", "OMIM:601286", "UMLS:C1832526"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022675", "name": "Cataract skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022682", "name": "Cennamo gangemi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022685", "name": "Cerebellar agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:868414", "UMLS:C4022808"]}
{"category": ["biolink:Disease"], "description": "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.", "id": "MONDO:0022687", "name": "Cerebellar degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebellar Degeneration", "cerebellar degeneration", "cerebellum neurodegenerative disease", "neurodegenerative disease of cerebellum"], "xref": ["DOID:1443", "MEDGEN:75496", "NCIT:C84624", "SCTID:95646004", "UMLS:C0262404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022691", "name": "Cerebello-olivary atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022693", "name": "Cerebral calcification cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022694", "name": "Cerebral calcifications opalescent teeth phosphaturia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.", "id": "MONDO:0022697", "name": "Athetoid cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["athetoid cerebral palsy", "dyskinetic cerebral palsy"], "xref": ["DOID:0050672", "ICD10CM:G80.3", "MEDGEN:82853", "NCIT:C97169", "SCTID:230780007", "SCTID:75019001", "UMLS:C0270742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022699", "name": "Cerebral palsy spastic hemiplegic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:208850", "UMLS:C0837177"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022700", "name": "Cerebral palsy spastic monoplegic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:78732", "UMLS:C0270807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022712", "name": "Oculo digital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419324", "MESH:C535922", "UMLS:C2931063"]}
{"category": ["biolink:Disease"], "description": "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.", "id": "MONDO:0022714", "name": "Chester porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["MEDGEN:82789", "OMIM:176010", "UMLS:C0268322"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022715", "name": "Chiari malformation type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027908", "MEDGEN:148202", "SCTID:253186001", "UMLS:C0750931"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022716", "name": "Chiari malformation type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027909", "MEDGEN:148203", "SCTID:253187005", "UMLS:C0750932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022723", "name": "Chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chondrodysplasia"], "xref": ["MEDGEN:91012", "SCTID:205465004", "UMLS:C0343284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022729", "name": "Chondrodysplasia punctata with steroid sulfatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022733", "name": "Choreoacanthocytosis amyotrophic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022734", "name": "Chorioretinopathy dominant form microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:502349", "UMLS:C3501946"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022735", "name": "Choroid plexus cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["choroid plexus cyst"], "xref": ["MEDGEN:87376", "NCIT:C4351", "SCTID:230790004", "UMLS:C0338597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022736", "name": "Occupational lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:508.9", "MEDGEN:538557", "SCTID:86157004", "UMLS:C0264421"]}
{"category": ["biolink:Disease"], "description": "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.", "id": "MONDO:0022737", "name": "Choroideremia hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CHM-hypopituitarism syndrome", "choroideremia hypopituitarism"], "xref": ["Orphanet:1434", "SCTID:715417002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022739", "name": "Christian demyer franken syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022740", "name": "Christian johnson angenieta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.", "id": "MONDO:0022742", "name": "Occupational asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080820", "MEDGEN:452342", "MESH:D059366", "SCTID:57607007", "UMLS:C0264423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022745", "name": "Mixed dust pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["mixed dust pneumoconiosis"], "xref": ["GARD:0008374", "ICD9:504", "MEDGEN:78109", "SCTID:32139003", "UMLS:C0264436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022746", "name": "Chromosome 13p duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025364", "MEDGEN:419282", "MESH:C535450", "UMLS:C2930906"]}
{"category": ["biolink:Disease"], "description": "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.", "id": "MONDO:0022749", "name": "Non-neoplastic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-neoplastic nevus"], "xref": ["ICD9:448.1", "MEDGEN:78119", "NCIT:C3937", "SCTID:195381005", "UMLS:C0265027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022752", "name": "Chromosome 16p13.3 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025365", "MEDGEN:502906", "MESH:C566433", "UMLS:C3502510"]}
{"category": ["biolink:Disease"], "description": "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.", "id": "MONDO:0022754", "name": "Chromosome 17p deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["chromosome 17p deletion", "partial deletion of chromosome 17p", "partial deletion of the short arm of chromosome 17", "partial monosomy of chromosome 17p", "partial monosomy of the short arm of chromosome 17", "partial monosomy of the short arm of chromosome type 17"], "xref": ["GARD:0020817", "MEDGEN:1842221", "MESH:C538045", "NCIT:C36499", "Orphanet:261965", "UMLS:C5679671", "icd11.foundation:527787991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022755", "name": "Chromosome 18 mosaic monosomy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003726", "MEDGEN:419755", "MESH:C536581", "UMLS:C2931250"]}
{"category": ["biolink:Disease"], "description": "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0022756", "name": "Chromosome 1q deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["partial deletion of chromosome 1q", "partial deletion of the long arm of chromosome 1", "partial deletion of the long arm of chromosome type 1", "partial monosomy of chromosome 1q", "partial monosomy of the long arm of chromosome 1"], "xref": ["GARD:0008669", "MEDGEN:1825942", "Orphanet:262001", "UMLS:C5679674", "icd11.foundation:296620919"]}
{"category": ["biolink:Disease"], "description": "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.", "id": "MONDO:0022757", "name": "Chromosome 20 trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0005332", "MEDGEN:1876538", "MESH:C535372", "NCIT:C36397", "UMLS:C5979883"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022758", "name": "Chromosome 22, monosome mosaic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025366", "MEDGEN:419776", "MESH:C536798", "UMLS:C2931330"]}
{"category": ["biolink:Disease"], "description": "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).", "id": "MONDO:0022759", "name": "Trisomy 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0005335", "MEDGEN:82711", "MESH:C536799", "SCTID:205655003", "UMLS:C0265490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022760", "name": "Chromosome 22q deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["22q deletion", "22q monosomy", "deletion 22q", "monosomy 22q", "partial deletion of chromosome 22q", "partial deletion of the long arm of chromosome 22", "partial deletion of the long arm of chromosome type 22", "partial monosomy 22q", "partial monosomy of chromosome 22q", "partial monosomy of the long arm of chromosome 22"], "xref": ["GARD:0020841", "MEDGEN:539297", "Orphanet:262182", "UMLS:C0265489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022761", "name": "Chromosome 3 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025367", "MEDGEN:419778", "MESH:C536803", "UMLS:C2931333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022762", "name": "Chromosome 4 short arm deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["4p deletion", "4p monosomy", "chromosome 4p deletion", "deletion 4p", "monosomy 4p", "partial deletion of chromosome 4p", "partial deletion of the short arm of chromosome 4", "partial deletion of the short arm of chromosome type 4", "partial monosomy 4p", "partial monosomy of chromosome 4p", "partial monosomy of the short arm of chromosome 4"], "xref": ["GARD:0020808", "ICD10CM:Q93.3", "MEDGEN:419441", "MESH:C537637", "Orphanet:261884", "UMLS:C2931557", "icd11.foundation:1460916074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022765", "name": "Chronic demyelinizing neuropathy with igm monoclonal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022768", "name": "Chronic polyradiculoneuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022769", "name": "Ciliary dyskinesia-bronchiectasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022770", "name": "Circumscribed cutaneous aplasia of the vertex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022771", "name": "Circumscribed disseminated keratosis jadassohn lew type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.", "id": "MONDO:0022772", "name": "Classic kaposi sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Kaposi sarcoma classical type", "Kaposi sarcoma, classic", "Kaposi's sarcoma, classical type", "classic Kaposi sarcoma", "classic Kaposi's sarcoma"], "xref": ["GARD:0025368", "MEDGEN:78931", "NCIT:C9112", "UMLS:C0279084", "icd11.foundation:1595913346"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022775", "name": "Cleft lip and palate malrotation cardiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022776", "name": "Cleft lip and/or palate with mucous cysts of lower", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022777", "name": "Cleft lip palate dysmorphism kumar type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022778", "name": "Cleft lip palate intellectual disability corneal opacity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022779", "name": "Cleft lip palate oligodontia syndactyly pili torti", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022780", "name": "Cleft lip palate pituitary deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022781", "name": "Cleft lip palate-tetraphocomelia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022782", "name": "Cleft lower lip cleft lateral canthi chorioretinal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022785", "name": "Cleft palate cardiac defect ectrodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022786", "name": "Cleft palate colobomata radial synostosis deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022787", "name": "Cleft palate heart disease polydactyly absent tibia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022790", "name": "Cleft tongue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:82731", "UMLS:C0266111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022791", "name": "Coarse face hypotonia constipation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A rare pain disorder characterized by pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury.", "id": "MONDO:0022792", "name": "Coccygodynia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["coccydynia"], "xref": ["MEDGEN:507576", "UMLS:C0009193", "icd11.foundation:718979238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022795", "name": "Deficiency of coenzyme q cytochrome c reductase", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022798", "name": "Cohen lockood wyborney syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.", "id": "MONDO:0022799", "name": "Cold urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1001881", "MEDGEN:472942", "SCTID:74774004", "UMLS:C0221207", "icd11.foundation:915116593"]}
{"category": ["biolink:Disease"], "description": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.", "id": "MONDO:0022800", "name": "Type 2 collagenopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["COL2A1 disease or disorder", "collagenopathy type 2 alpha 1", "disease or disorder caused by mutation in COL2A1"], "xref": ["GARD:0019186", "HGNC:2200", "MEDGEN:419326", "MESH:C535964", "NANDO:2201016", "Orphanet:93421", "UMLS:C2931073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022802", "name": "Collins-sakati syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022803", "name": "Coloboma porencephaly hydronephrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022804", "name": "Colobomata unilobar lung heart defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022805", "name": "Colonic malakoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:540762", "UMLS:C0267536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022809", "name": "Colver steer godman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022810", "name": "Combarros calleja leno syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A disorder with basis in disruption of a complement receptor.", "id": "MONDO:0022812", "name": "Complement receptor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["complement receptor deficiency"], "xref": ["GARD:0009527", "ICD9:279.8", "MEDGEN:96025", "SCTID:234628004", "UMLS:C0398783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022815", "name": "Congenital absence of the sternocleidomastoid muscle", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419327", "MESH:C535977", "UMLS:C2931075"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022817", "name": "Congenital amputation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:346618", "UMLS:C1857583"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022818", "name": "Congenital aneurysms of the great vessels", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022820", "name": "Congenital articular rigidity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:108568", "UMLS:C0595987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022821", "name": "Congenital benign spinal muscular atrophy dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022822", "name": "Congenital cardiovascular shunt", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:108904", "UMLS:C0596366"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022823", "name": "Congenital contractures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:83066", "UMLS:C0332878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022824", "name": "Congenital craniosynostosis maternal hyperthyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022825", "name": "Congenital cystic eye", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010617", "MEDGEN:510582", "Orphanet:519384", "UMLS:C0158543", "icd11.foundation:2061090928"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022826", "name": "Congenital cystic eye multiple ocular and intracranial anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022831", "name": "Congenital heart disease ptosis hypodontia craniostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022832", "name": "Congenital heart disease radio ulnar synostosis intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022839", "name": "Congenital human immunodeficiency virus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:636232", "UMLS:C0520783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022841", "name": "Congenital hypotrichosis milia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022843", "name": "Congenital mumps", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022846", "name": "Congenital nonhemolytic jaundice", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022849", "name": "Congenital stenosis of cervical medullary canal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0022851", "name": "Dennis-fairhurst-moore syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0000290", "MEDGEN:419158", "MESH:C538210", "Orphanet:2109", "UMLS:C2931775"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022854", "name": "Congenital unilateral pulmonary hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022855", "name": "Congenital vagal hyperreflexivity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A congenital anatomic anomaly in which the heart has only two chambers.", "id": "MONDO:0022859", "name": "Cor biloculare", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cor Biloculare", "TWO-chambered heart", "cor biloculare"], "xref": ["ICD9:745.7", "MEDGEN:56271", "NCIT:C124591", "SCTID:81990004", "UMLS:C0152238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022862", "name": "Cormier rustin munnich syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022863", "name": "Corneal crystals myopathy neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022865", "name": "Corneal dystrophy ichthyosis microcephaly intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022866", "name": "Corneal dystrophy pigmentary anomaly malabsorption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022871", "name": "Corpus callosum agenesis of blepharophimosis robin type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022872", "name": "Corpus callosum dysgenesis x-linked recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022873", "name": "Corpus callosum dysgenesis cleft spasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022874", "name": "Corpus callosum dysgenesis hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022875", "name": "Cortada koussef matsumoto syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022876", "name": "Cortes lacassie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022883", "name": "Craniofacial and skeletal defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022884", "name": "Craniofacial dysostosis arthrogryposis progeroid appearance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022887", "name": "Craniofrontonasal syndrome teebi type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022888", "name": "Craniostenosis cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022889", "name": "Craniostenosis with congenital heart disease intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022890", "name": "Craniosynostosis fontaine type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022891", "name": "Craniosynostosis maroteaux fonfria type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022892", "name": "Craniosynostosis alopecia brain defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022893", "name": "Craniosynostosis arthrogryposis cleft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022894", "name": "Craniosynostosis autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022895", "name": "Craniosynostosis cleft lip palate arthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022896", "name": "Craniosynostosis contractures cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001591"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022897", "name": "Craniosynostosis exostoses nevus epibulbar dermoid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022898", "name": "Craniosynostosis intellectual disability heart defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022899", "name": "Crawfurd syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A Crohn disease involving a pathogenic inflammatory response in the esophagus.", "id": "MONDO:0022901", "name": "Crohn disease of the esophagus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Crohn's disease of the esophagus", "Crohn's disease of the oesophagus"], "xref": ["MEDGEN:574175", "UMLS:C0341116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022904", "name": "Cryofibrinogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cryofibrinogenemia"], "xref": ["ICD9:286.9", "MEDGEN:78798", "MESH:C536218", "SCTID:10934005", "UMLS:C0272263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022907", "name": "Cutaneous sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022908", "name": "Cutis gyratum acanthosis nigricans craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022909", "name": "Cutis laxa osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022912", "name": "Cutis verticis gyrata mental deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cytokine receptor activity.", "id": "MONDO:0022919", "name": "Cytokine receptor deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["cytokine receptor activity disease", "disorder of cytokine receptor activity"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022930", "name": "Dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Aughton sloan Milad syndrome"], "xref": ["GARD:0000137", "MEDGEN:419910", "MESH:C538340", "UMLS:C2931823"]}
{"category": ["biolink:Disease"], "description": "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0022932", "name": "Davenport-donlan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one"], "xref": ["MEDGEN:443971", "MESH:C535988", "Orphanet:3215", "UMLS:C2931076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022934", "name": "Davis lafer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419708", "MESH:C535989", "UMLS:C2931077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022936", "name": "De hauwere leroy adriaenssens syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419709", "MESH:C535991", "UMLS:C2931078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022937", "name": "Deafness conductive stapedial ear malformation facial palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022938", "name": "Deafness goiter stippled epiphyses", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022941", "name": "Deafness hypospadias metacarpal and metatarsal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022942", "name": "Deafness mesenteric diverticula of small bowel neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022945", "name": "Deafness peripheral neuropathy arterial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022946", "name": "Deafness progressive cataract autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022948", "name": "Deal barratt dillon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001717", "MEDGEN:444139", "MESH:C538206", "UMLS:C2931773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022949", "name": "Defective apolipoprotein b-100", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022960", "name": "Dermatocardioskeletal syndrome boronne type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)", "id": "MONDO:0022963", "name": "Desmoplastic infantile astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIA", "Desmoplastic astrocytoma of infancy", "Desmoplastic infantile astrocytoma"], "xref": ["GARD:0009617", "ICDO:9412/1", "MEDGEN:141595", "NCIT:C9476", "ONCOTREE:DIA", "UMLS:C0457179"]}
{"category": ["biolink:Disease"], "description": "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)", "id": "MONDO:0022965", "name": "Desmoplastic infantile ganglioglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIG", "Desmoplastic infantile ganglioglioma"], "xref": ["DOID:0081259", "GARD:0008648", "MEDGEN:231168", "NCIT:C4738", "ONCOTREE:DIG", "UMLS:C1321878"]}
{"category": ["biolink:Disease"], "description": "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.", "id": "MONDO:0022968", "name": "Dextrocardia with situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:237234", "UMLS:C1395317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022971", "name": "Diabetes persistent mullerian ducts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).", "id": "MONDO:0022972", "name": "Diabetic mastopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419098", "MESH:C537524", "SCTID:724136006", "UMLS:C2931521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022975", "name": "Diaphragmatic agenesis radial aplasia omphalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022977", "name": "Diaphragmatic hernia exomphalos corpus callosum agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022978", "name": "Diaphragmatic hernia upper limb defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022981", "name": "Die smulders droog van dijk syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022983", "name": "Dieterich disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Dieterich disease", "Dieterich's disease"], "xref": ["GARD:0000204", "MEDGEN:418997", "MESH:C536172", "UMLS:C2931124"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022985", "name": "Diffuse cavernous hemangioma of the rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.", "id": "MONDO:0022986", "name": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DIP-NECH", "DIPNECH", "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"], "xref": ["GARD:0010780", "MEDGEN:232427", "NCIT:C7437", "Orphanet:617916", "UMLS:C1333291", "icd11.foundation:1480946725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022989", "name": "Diomedi bernardi placidi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022990", "name": "Diphallus rachischisis imperforate anus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.", "id": "MONDO:0022991", "name": "Diploid-triploid mosaicism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010715", "ICD9:758.89", "MEDGEN:444358", "MESH:C548012", "SCTID:10177005", "UMLS:C2932665"]}
{"category": ["biolink:Disease"], "description": "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.", "id": "MONDO:0022993", "name": "Dipsogenic diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dipsogenic diabetes insipidus", "dipsogenic diabetes insipidus"], "xref": ["DOID:0081058", "MEDGEN:82829", "MESH:C548013", "NCIT:C129735", "SCTID:82800008", "UMLS:C0268813"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022998", "name": "Distal arthrogryposis moore weaver type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001884", "MEDGEN:419054", "MESH:C536814", "UMLS:C2931342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0022999", "name": "Distichiasis heart congenital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023002", "name": "Double discordia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:137675", "UMLS:C0332941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023003", "name": "Double fingernail of fifth finger", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023005", "name": "Double uterus-hemivagina-renal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:928221", "UMLS:C4302552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023006", "name": "Doxorubicin induced cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.", "id": "MONDO:0023007", "name": "Drachtman weinblatt sitarz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Drachtman Weinblatt Sitarz syndrome"], "xref": ["GARD:0001913", "MEDGEN:419292", "MESH:C535603", "UMLS:C2930947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023011", "name": "Wilson-mikity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Wilson-Mikity syndrome", "wilson-mikity syndrome"], "xref": ["GARD:0010495", "ICD10CM:P27.0", "MEDGEN:78714", "SCTID:51577008", "UMLS:C0270171", "icd11.foundation:846899990"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023013", "name": "Duker-weiss-siber syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419689", "MESH:C535719", "UMLS:C2930993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023015", "name": "Duodenal atresia tetralogy of fallot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023016", "name": "Duplication of leg mirror foot", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023017", "name": "Duplication of the thumb unilateral biphalangeal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023018", "name": "Dupont sellier chochillon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023019", "name": "Dwarfism bluish sclerae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023020", "name": "Dwarfism deafness retinitis pigmentosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023021", "name": "Dwarfism lethal type advanced bone age", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023022", "name": "Dwarfism thin bones multiple fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.", "id": "MONDO:0023023", "name": "Neonatal dacryocystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neonatal dacryocystitis"], "xref": ["MEDGEN:542581", "NCIT:C116819", "SCTID:23735003", "UMLS:C0270178"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023030", "name": "Dysmorphism cleft palate loose skin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.", "id": "MONDO:0023035", "name": "Eagle syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Eagle's syndrome", "elongated styloid process syndrome"], "xref": ["ICD9:733.99", "MEDGEN:357035", "MESH:C538010", "SCTID:609143007", "UMLS:C1868714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023039", "name": "Eccrine mucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:577240", "UMLS:C0346020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023040", "name": "Ectodermal dysplasia bartalos type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023042", "name": "Ectodermal dysplasia margarita type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023043", "name": "Ectodermal dysplasia alopecia preaxial polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0002040", "MEDGEN:419138", "MESH:C538016", "UMLS:C2931691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023045", "name": "Ectodermal dysplasia arthrogryposis diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023046", "name": "Ectodermal dysplasia blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023048", "name": "Ectodermal dysplasia neurosensory deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023050", "name": "Ectrodactyly cardiopathy dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419342", "MESH:C536187", "UMLS:C2931127"]}
{"category": ["biolink:Disease"], "description": "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.", "id": "MONDO:0023054", "name": "Klumpke's paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["klumpke's paralysis", "klumpke-dC)jerine paralysis"], "xref": ["GARD:0003123", "MEDGEN:124376", "NCIT:C116724", "SCTID:83886009", "UMLS:C0270898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023059", "name": "Elliott ludman teebi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443982", "MESH:C536204", "UMLS:C2931128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023061", "name": "Enamel hypoplasia cataract hydrocephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023062", "name": "Encephalocele anencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023066", "name": "Enchondromatosis dwarfism deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023067", "name": "Endemic kaposi sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010431", "MEDGEN:698516", "UMLS:C1275231", "icd11.foundation:509381237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023068", "name": "Engelhard yatziv syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023069", "name": "Enlarged vestibular aqueduct syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enlarged vestibular aqueduct syndrome"], "xref": ["DOID:0050332", "MEDGEN:355050", "UMLS:C1863752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023071", "name": "Enterovirus antenatal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.", "id": "MONDO:0023073", "name": "Eosinophilic cryptitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:595.89", "MEDGEN:148162", "SCTID:445918001", "UMLS:C0742965"]}
{"category": ["biolink:Disease"], "description": "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.", "id": "MONDO:0023076", "name": "Eosinophilic pustular folliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0008534", "ICD9:704.8", "MEDGEN:140800", "MESH:C535953", "SCTID:95333004", "UMLS:C0406305", "icd11.foundation:1653155576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023079", "name": "Epidermal nevus vitamin d resistant rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023083", "name": "Epimetaphyseal dysplasia cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023084", "name": "Epiphyseal dysplasia dysmorphism camptodactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.", "id": "MONDO:0023089", "name": "Erythroplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["erythroplakia"], "xref": ["MEDGEN:41862", "NCIT:C3025", "UMLS:C0014818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023091", "name": "Esophageal atresia coloboma talipes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023093", "name": "Exertional headache", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1780177", "UMLS:C2363911"]}
{"category": ["biolink:Disease"], "description": "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.", "id": "MONDO:0023094", "name": "Exogenous ochronosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["exogenous ochronosis"], "xref": ["GARD:0027910", "ICD9:270.2", "MEDGEN:1854236", "MESH:C531762", "SCTID:410041002", "UMLS:C5887145", "icd11.foundation:835922687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023098", "name": "Extrasystoles short stature hyperpigmentation microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1660843", "UMLS:C4749763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023099", "name": "Fraxd syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023100", "name": "Facial clefting corpus callosum agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023101", "name": "Facio digito genital syndrome recessive form", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023102", "name": "Facio skeletal genital syndrome rippberger type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023106", "name": "Fairbank disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:343598", "MESH:C536393", "UMLS:C1851537"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023111", "name": "Familial capillaro-venous leptomeningeal angiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419030", "MESH:C536609", "UMLS:C2931262"]}
{"category": ["biolink:Disease"], "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "id": "MONDO:0023113", "name": "Familial colorectal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary colorectal cancer"], "xref": ["GARD:0008533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023119", "name": "Familial myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0008516", "MEDGEN:444034", "MESH:C536848", "UMLS:C2931351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023121", "name": "Familial partial paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["GTR:AN0100894"]}
{"category": ["biolink:Disease"], "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "id": "MONDO:0023122", "name": "Familial prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hereditary prostate carcinoma"], "xref": ["GARD:0004520", "GTR:AN0101368", "GTR:AN0101369", "MEDGEN:1667326", "NCIT:C103817", "UMLS:C4722328"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect.", "id": "MONDO:0023124", "name": "Dursun syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["familial pulmonary arterial hypertension leucopenia and atrial septal defect", "familial pulmonary arterial hypertension, leucopenia, and atrial septal defect"], "xref": ["Orphanet:178503"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023133", "name": "Faye-petersen-ward-carey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419797", "MESH:C537076", "UMLS:C2931417"]}
{"category": ["biolink:Disease"], "description": "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.", "id": "MONDO:0023134", "name": "Febrile ulceronecrotic mucha-habermann disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["febrile ulceronecrotic Mucha-Habermann disease", "febrile ulceronecrotic pityriasis lichenoides acuta"], "xref": ["GARD:0009516", "MEDGEN:266145", "MESH:C537077", "SCTID:402860008", "UMLS:C1274297", "icd11.foundation:1408299147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023137", "name": "Feigenbaum bergeron syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023138", "name": "Feingold trainer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419341", "MESH:C536179", "UMLS:C2931126"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023142", "name": "Fetal brain disruption sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023143", "name": "Fetal enterovirus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0002302"]}
{"category": ["biolink:Disease"], "description": "A syndrome caused by HPIV-3.", "id": "MONDO:0023147", "name": "Fetal parainfluenza virus type 3 syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Human respirovirus 3 caused infectious embryofetopathy", "Human respirovirus 3 infectious embryofetopathy"], "xref": ["GARD:0002309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023148", "name": "Fetal phenothiazine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023149", "name": "Infection due to clostridium perfringens", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Clostridial Myonecrosis"], "xref": ["GARD:0011970", "MEDGEN:546696", "NORD:1922", "SCTID:65154009", "UMLS:C0275619"]}
{"category": ["biolink:Disease"], "description": "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.", "id": "MONDO:0023152", "name": "Fibrocartilaginous embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419466", "MESH:C537927", "UMLS:C2931666"]}
{"category": ["biolink:Disease"], "description": "A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.", "id": "MONDO:0023153", "name": "Tuberculous ascites", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tuberculous ascites"], "xref": ["GARD:0025369", "MEDGEN:78815", "NCIT:C27076", "SCTID:4501007", "UMLS:C0275919", "icd11.foundation:1747509566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023154", "name": "Fibromatosis multiple non ossifying", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:450548", "SCTID:715432009", "UMLS:C0796000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023155", "name": "Fibula aplasia complex brachydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023157", "name": "Fibular hypoplasia scapulo pelvic dysplasia absent", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.", "id": "MONDO:0023158", "name": "Fitz-hugh-curtis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:639814", "MESH:C537936", "SCTID:237041005", "UMLS:C0549148"]}
{"category": ["biolink:Disease"], "description": "Myocarditis that is caused by an infection with a viral agent.", "id": "MONDO:0023161", "name": "Viral myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["viral myocarditis"], "xref": ["GARD:0025370", "ICD10CM:B33.22", "MEDGEN:547112", "NCIT:C128381", "SCTID:89141000", "UMLS:C0276138", "icd11.foundation:231270764"]}
{"category": ["biolink:Disease"], "description": "Pericarditis that is caused by an infection with a viral agent.", "id": "MONDO:0023164", "name": "Viral pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["viral pericarditis"], "xref": ["ICD10CM:B33.23", "MEDGEN:547113", "NCIT:C128405", "SCTID:70189005", "UMLS:C0276139", "icd11.foundation:624707101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023165", "name": "Florid cystic endosalpingiosis of the uterus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419405", "MESH:C537064", "UMLS:C2931410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023167", "name": "Focal alopecia congenital megalencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023170", "name": "Focal or multifocal malformations in neuronal migration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.", "id": "MONDO:0023171", "name": "Foix chavany marie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["foix chavany Marie syndrome"], "xref": ["GARD:0002351", "MEDGEN:419406", "MESH:C537069", "Orphanet:2048", "SCTID:720956003", "UMLS:C2931412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023175", "name": "Fontaine farriaux blanckaert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023176", "name": "Formaldehyde poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0002361", "MESH:C537268", "NORD:1155"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023178", "name": "Fragile x syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023179", "name": "Fragile x syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023180", "name": "Fragile x syndrome type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023182", "name": "Franceschini vardeu guala syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0002371", "MEDGEN:419814", "MESH:C537272", "UMLS:C2931463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023186", "name": "Fraser jequier chen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419665", "MESH:C535481", "UMLS:C2930912"]}
{"category": ["biolink:Disease"], "description": "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.", "id": "MONDO:0023188", "name": "Freiberg disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Freiberg's disease"], "xref": ["GARD:0002380", "MEDGEN:75532", "MESH:C535636", "Orphanet:564003", "SCTID:28466007", "UMLS:C0264099", "icd11.foundation:74359553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023193", "name": "Friedman goodman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023196", "name": "Frontonasal malformation cloacal exstrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023197", "name": "Frontonasal dysplasia klippel feil syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023199", "name": "Frontonasal dysplasia phocomelic upper limbs", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023200", "name": "Fryns fabry remans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023201", "name": "Fryns smeets thiry syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0002409", "MEDGEN:1803270", "Orphanet:2058", "UMLS:C5680810"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023203", "name": "Fuchs atrophia gyrata chorioideae et retinae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444126", "MESH:C538071", "UMLS:C2931721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023204", "name": "Fukuda-miyanomae-nakata syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0002411", "Orphanet:2060"]}
{"category": ["biolink:Disease"], "description": "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.", "id": "MONDO:0023206", "name": "Functional pancreatic neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["functional pancreatic NET", "functional pancreatic neuroendocrine tumor", "functioning PNET", "functioning pancreatic NET", "functioning pancreatic endocrine tumor", "functioning pancreatic endocrine tumour", "functioning pancreatic neuroendocrine tumor", "functioning pancreatic neuroendocrine tumour", "functioning well differentiated pancreatic endocrine neoplasm", "functioning well differentiated pancreatic endocrine tumor", "functioning well differentiated pancreatic endocrine tumour", "functioning well-differentiated NEN of pancreas", "functioning well-differentiated neuroendocrine neoplasm of pancreas", "functioning well-differentiated pancreatic NEN", "functioning well-differentiated pancreatic neuroendocrine neoplasm", "syndromic pancreatic NET", "syndromic pancreatic neuroendocrine tumor", "syndromic pancreatic neuroendocrine tumour"], "xref": ["GARD:0022053", "MEDGEN:310778", "NCIT:C45840", "Orphanet:506060", "UMLS:C1708107"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023208", "name": "Fuqua berkovitz syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023209", "name": "Galactorrhoea-hyperprolactinaemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["galactorrhoea-hyperprolactinaemia"], "xref": ["GARD:0008400", "MEDGEN:419279", "MESH:C535402", "UMLS:C2930894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023212", "name": "Garret-tripp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419297", "MESH:C535646", "UMLS:C2930965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023214", "name": "Gas bloat syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419298", "MESH:C535647", "UMLS:C2930966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023221", "name": "Gaucher ichthyosis restrictive dermopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0023224", "name": "Inherited reflex epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["hereditary reflex epilepsy"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023226", "name": "Gershinibaruch leibo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.", "id": "MONDO:0023227", "name": "Gestational diabetes insipidus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081057", "MEDGEN:444359", "MESH:C548014", "UMLS:C2932666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023230", "name": "Ghose-sachdev-kumar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:425476", "MESH:C537803", "UMLS:C2974016"]}
{"category": ["biolink:Disease"], "description": "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.", "id": "MONDO:0023232", "name": "Giant cell myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["giant cell myocarditis"], "xref": ["GARD:0006502", "NCIT:C97055", "NORD:1183", "SCTID:60812006", "icd11.foundation:507103735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023238", "name": "Giant mammary hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419055", "MESH:C536818", "UMLS:C2931343"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023240", "name": "Gigantism advanced bone age hoarse cry", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.", "id": "MONDO:0023246", "name": "Linear porokeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0009515", "MEDGEN:81293", "SCTID:238631008", "UMLS:C0302319", "icd11.foundation:1622319802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023249", "name": "Polyarticular juvenile rheumatoid arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010967", "MEDGEN:551885", "SCTID:445479007", "UMLS:C0311221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023250", "name": "Global disaccharide intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023255", "name": "Glossopalatine ankylosis micrognathia ear anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.", "id": "MONDO:0023258", "name": "Glycogen storage disease type 1 due to slc37a4 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SLC37A4 glycogen storage disease I", "glucose-6-phosphate translocase deficiency", "glycogen storage disease I caused by mutation in SLC37A4"], "xref": ["GARD:0002501", "HGNC:4061", "MEDGEN:419390", "MESH:C536831", "NANDO:1200841", "UMLS:C2931345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023263", "name": "Glyceraldehyde-3-phosphate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["HGNC:4141", "MEDGEN:224854", "MESH:C536837", "UMLS:C1291264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023267", "name": "Goldstein hutt syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419084", "MESH:C537282", "UMLS:C2931465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023272", "name": "Goniodysgenesis intellectual disability short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.", "id": "MONDO:0023273", "name": "Pigmented dermatofibrosarcoma protuberans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bednar tumor", "bednar tumour", "pigmented dermatofibrosarcoma protuberans", "pigmented dermatofibrosarcoma protuberans (bednar tumor)"], "xref": ["GARD:0009624", "MEDGEN:90786", "NCIT:C9430", "SCTID:398670003", "UMLS:C0334464"]}
{"category": ["biolink:Disease"], "description": "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.", "id": "MONDO:0023275", "name": "Graham-boyle-troxell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Graham-Boyle-Troxell syndrome", "cystic hamartoma of lung and kidney", "graham Boyle Troxell syndrome"], "xref": ["GARD:0002557", "ICD9:759.6", "MEDGEN:444062", "MESH:C537292", "Orphanet:2111", "SCTID:707530009", "UMLS:C2931468"]}
{"category": ["biolink:Disease"], "description": "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.", "id": "MONDO:0023282", "name": "Granulomatous hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:878912", "UMLS:C4046048", "icd11.foundation:1410645474"]}
{"category": ["biolink:Disease"], "description": "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.", "id": "MONDO:0023283", "name": "Ovarian granulosa cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["granulosa cell neoplasm of ovary", "granulosa cell neoplasm of the ovary", "granulosa cell tumor of ovary", "granulosa cell tumor of the ovary", "granulosa cell tumour of ovary", "granulosa cell tumour of the ovary", "ovarian granulosa cell neoplasm", "ovarian granulosa cell tumor", "ovary granulosa cell tumor", "ovary granulosa cell tumour"], "xref": ["GARD:0027911", "MEDGEN:277970", "MESH:C537296", "NCIT:C6261", "SCTID:254863004", "UMLS:C1370419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023286", "name": "Graphite pneumoconiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["graphite fibrosis of lung", "graphite pneumoconiosis"], "xref": ["GARD:0008359", "ICD9:503", "MEDGEN:120502", "SCTID:17385007", "UMLS:C0264439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023288", "name": "Green sandford davison syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419160", "MESH:C538221", "OMIM:601446", "UMLS:C2931777"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023290", "name": "Grix blankenship peterson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A form of psoriasis characterized by a sudden onset of small, red, and scaly teardrop-shaped spots that appear on the arms, legs, and middle of the body, usually triggered by an infection.", "id": "MONDO:0023297", "name": "Guttate psoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["guttate psoriasis"], "xref": ["ICD10CM:L40.4", "ICD9:696.1", "MEDGEN:91004", "SCTID:37042000", "UMLS:C0343052", "icd11.foundation:1202062855"]}
{"category": ["biolink:Disease"], "description": "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.", "id": "MONDO:0023305", "name": "Heavy metal poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["heavy metal poisoning", "toxic effect of heavy metal"], "xref": ["EFO:1001518", "GARD:0006577", "ICD9:985.8", "MESH:D000075322", "NORD:1219", "SCTID:85866007"]}
{"category": ["biolink:Disease"], "description": "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet", "id": "MONDO:0023368", "name": "Ho-kaufman-mcalister syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419170", "MESH:C538325", "UMLS:C2931819"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the facial skeleton.", "id": "MONDO:0023369", "name": "Disorder of facial skeleton", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of facial skeleton", "disease or disorder of facial skeleton", "disorder of facial skeleton", "facial skeleton disease", "facial skeleton disease or disorder", "maxillo-facial disease", "maxillofacial anomaly"], "xref": ["MEDGEN:712533", "UMLS:C1290148"]}
{"category": ["biolink:Disease"], "description": "Either an isolated neoplasm or a syndrome with neoplasm as a major feature.", "id": "MONDO:0023370", "name": "Neoplastic disease or syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.", "id": "MONDO:0023388", "name": "Pityriasis rotunda", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0010904", "MEDGEN:575364", "SCTID:238639005", "UMLS:C0343060", "icd11.foundation:873448556"]}
{"category": ["biolink:Disease"], "description": "A fungal infection by any of the Candida species that is present at birth.", "id": "MONDO:0023415", "name": "Congenital candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital candidiasis"], "xref": ["MEDGEN:575892", "NCIT:C116811", "SCTID:276672007", "UMLS:C0343875"]}
{"category": ["biolink:Disease"], "description": "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.", "id": "MONDO:0023419", "name": "Hyperprolinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080541", "GARD:0002847", "ICD9:270.8", "MEDGEN:75690", "NANDO:2200471", "SCTID:59655002", "UMLS:C0268528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023472", "name": "Chondrodysplasia situs inversus imperforate anus polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.", "id": "MONDO:0023483", "name": "Infectious myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["infectious myositis", "infective myositis"], "xref": ["GARD:0009131", "ICD10CM:M60.0", "ICD9:728.0", "MEDGEN:102358", "NCIT:C26984", "SCTID:29689003", "UMLS:C0158353", "icd11.foundation:82568660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023510", "name": "Jaffer-beighton syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444079", "MESH:C537561", "UMLS:C2931533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023513", "name": "Jeune syndrome situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "xref": ["GARD:0000303", "MEDGEN:419100", "MESH:C537572", "UMLS:C2931535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023521", "name": "Judge misch wright syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003061", "MEDGEN:419840", "MESH:C537692", "UMLS:C2931590"]}
{"category": ["biolink:Disease"], "description": "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.", "id": "MONDO:0023528", "name": "Kshv inflammatory cytokine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["KICS", "KSHV inflammatory cytokine syndrome", "Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome"], "xref": ["GARD:0027912", "MEDGEN:901443", "NCIT:C125711", "UMLS:C4086533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023530", "name": "Kallikrein hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["HGNC:6357", "MEDGEN:257936", "MESH:C537707", "UMLS:C1171349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023538", "name": "Kaplowitz-bodurtha syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444037", "MESH:C536893", "UMLS:C2931361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023540", "name": "Kashani-strom-utley syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419069", "MESH:C537010", "Orphanet:1137", "UMLS:C2931392"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023541", "name": "Kasznica-carlson-coppedge syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444045", "MESH:C537011", "UMLS:C2931393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023543", "name": "Katsantoni-papadakou-lagoyanni syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419400", "MESH:C537012", "UMLS:C2931394"]}
{"category": ["biolink:Disease"], "description": "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.", "id": "MONDO:0023551", "name": "C1q nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["C1q nephropathy"], "xref": ["GARD:0012136", "MEDGEN:588388", "SCTID:236412002", "UMLS:C0403434"]}
{"category": ["biolink:Disease"], "description": "Testicular failure, the cause of which is not present at birth.", "id": "MONDO:0023554", "name": "Acquired testicular failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired testicular failure"], "xref": ["MEDGEN:588672", "NCIT:C131091", "SCTID:236811002", "UMLS:C0403818"]}
{"category": ["biolink:Disease"], "description": "An infectious process affecting the vagina. Symptoms include pain and purulent discharge.", "id": "MONDO:0023557", "name": "Infective vaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vaginal infection"], "xref": ["MEDGEN:140795", "NCIT:C84353", "SCTID:237091009", "UMLS:C0404521", "icd11.foundation:1436361154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023558", "name": "Kocher-debre-semelaigne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["GARD:0025371", "MESH:C537211", "icd11.foundation:109007822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023561", "name": "Koone-rizzo-elias syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419791", "MESH:C537023", "UMLS:C2931397"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023563", "name": "Kotzot-richter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003134", "MEDGEN:419793", "MESH:C537025", "OMIM:203285", "UMLS:C2931399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023567", "name": "Kozlowski brown hardwick syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419822", "MESH:C537506", "UMLS:C2931511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023569", "name": "Kozlowski ouvrier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027363", "MEDGEN:444073", "MESH:C537508", "UMLS:C2931512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023571", "name": "Kozlowski rafinski klicharska syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419432", "MESH:C537509", "UMLS:C2931513"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023573", "name": "Kozlowski warren fisher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0000353", "MEDGEN:419831", "MESH:C537614", "UMLS:C2931546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023575", "name": "Krauss herman holmes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419832", "MESH:C537618", "UMLS:C2931549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023577", "name": "Krieble bixler syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419107", "MESH:C537619", "UMLS:C2931550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023579", "name": "Kuster majewski hammerstein syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444132", "MESH:C538125", "UMLS:C2931740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023581", "name": "Kuster syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003152", "MEDGEN:419150", "MESH:C538126", "UMLS:C2931741"]}
{"category": ["biolink:Disease"], "description": "Myotonic dystrophy that is present at birth.", "id": "MONDO:0023595", "name": "Congenital myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["congenital myotonic dystrophy"], "xref": ["GARD:0009134", "MEDGEN:98051", "NCIT:C123308", "UMLS:C0410226", "icd11.foundation:599230687"]}
{"category": ["biolink:Disease"], "description": "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.", "id": "MONDO:0023597", "name": "Laryngeal papillomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["laryngeal papillomatosis"], "xref": ["GARD:0006864", "MEDGEN:96006", "MESH:C537876", "NCIT:C157733", "SCTID:232457008", "UMLS:C0396072"]}
{"category": ["biolink:Disease"], "description": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).", "id": "MONDO:0023599", "name": "Mesomelic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare"], "synonym": ["mesomelic dysplasia", "mesomelic dysplasias"], "xref": ["MEDGEN:593147", "NCIT:C121156", "SCTID:205473008", "UMLS:C0410536"]}
{"category": ["biolink:Disease"], "description": "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.", "id": "MONDO:0023601", "name": "Non-classic congenital adrenal hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["late-onset congenital adrenal hyperplasia", "non-classic congenital adrenal hyperplasia"], "xref": ["GARD:0025372", "MEDGEN:90982", "MESH:C537877", "NCIT:C131442", "UMLS:C0342467"]}
{"category": ["biolink:Disease"], "description": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.", "id": "MONDO:0023603", "name": "Hereditary disorder of connective tissue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Mendelian connective tissue disorder", "connective tissue hereditary disorder", "hereditary connective tissue disorder"], "xref": ["MEDGEN:473110", "NCIT:C97075", "SCTID:363045008", "UMLS:C0410787"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023605", "name": "Laugier-hunziker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Laugier-Hunziker syndrome"], "xref": ["ICD9:528.9", "MEDGEN:98027", "SCTID:238706002", "UMLS:C0406425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023607", "name": "Laurence-prosser-rocker syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419133", "MESH:C537882", "UMLS:C2931651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023609", "name": "Le marec-bracq-picaud syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444043", "MESH:C536997", "UMLS:C2931385"]}
{"category": ["biolink:Disease"], "description": "A skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.", "id": "MONDO:0023619", "name": "Lentigo maligna melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lentigo maligna melanoma", "malignant lentigo melanoma"], "xref": ["ICD9:172.8", "ICDO:8742/3", "MEDGEN:439437", "NCIT:C9151", "ONCOTREE:SKLMM", "SCTID:302837001", "UMLS:C2739810", "icd11.foundation:2011782924"]}
{"category": ["biolink:Disease"], "description": "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.", "id": "MONDO:0023628", "name": "Levator syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["levator syndrome", "painful spasm of anus"], "xref": ["MEDGEN:98071", "MESH:C535890", "NCIT:C113615", "SCTID:62647006", "UMLS:C0423738", "icd11.foundation:1042451642"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023642", "name": "Weber syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Weber-Gubler syndrome"], "xref": ["GARD:0008676", "ICD9:344.89", "MEDGEN:96812", "SCTID:24654003", "UMLS:C0455717", "icd11.foundation:1609214113"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.", "id": "MONDO:0023644", "name": "Lip and oral cavity carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lip and oral cavity cancer", "lip and oral cavity carcinoma", "oral cancer", "oral carcinoma"], "xref": ["GARD:0009342", "MEDGEN:67387", "NCIT:C9315", "UMLS:C0220641"]}
{"category": ["biolink:Disease"], "description": "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.", "id": "MONDO:0023646", "name": "Lipodermatosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0009671", "MEDGEN:140802", "MESH:C537026", "SCTID:410016009", "UMLS:C0406500", "icd11.foundation:473315619"]}
{"category": ["biolink:Disease"], "description": "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.", "id": "MONDO:0023650", "name": "Littoral cell angioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LCA", "littoral cell angioma"], "xref": ["GARD:0009714", "MEDGEN:351507", "MESH:C537031", "NCIT:C200524", "SCTID:418040002", "UMLS:C1627365"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023655", "name": "Immunodeficiency 14b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD14B"], "xref": ["MEDGEN:1787468", "OMIM:619281", "UMLS:C5543301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023657", "name": "Intellectual developmental disorder, autosomal dominant 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MRD65", "mental retardation, autosomal dominant 65"], "xref": ["DOID:0061038", "GARD:0018547", "MEDGEN:1787923", "OMIM:619320", "UMLS:C5543371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023659", "name": "Developmental and epileptic encephalopathy 96", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE96"], "xref": ["DOID:0070377", "GARD:0016445", "MEDGEN:1780167", "OMIM:619340", "UMLS:C5543446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023660", "name": "Angioedema, hereditary, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HAE6"], "xref": ["GARD:0025373", "MEDGEN:1785484", "OMIM:619363", "UMLS:C5543516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023662", "name": "Lymphatic malformation 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMPHM10"], "xref": ["GARD:0025374", "MEDGEN:1780452", "OMIM:619369", "UMLS:C5543531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023664", "name": "Spermatogenic failure 54", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF54"], "xref": ["DOID:0112335", "MEDGEN:1782493", "OMIM:619379", "UMLS:C5543570"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023670", "name": "Bardet-biedl syndrome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BBS20"], "xref": ["DOID:0081009", "GARD:0025375", "MEDGEN:934674", "OMIM:619471", "UMLS:C4310707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023671", "name": "Oculopharyngodistal myopathy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPDM3"], "xref": ["DOID:0081299", "GARD:0025376", "MEDGEN:1794166", "OMIM:619473", "UMLS:C5561956"]}
{"category": ["biolink:Disease"], "description": "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.", "id": "MONDO:0023679", "name": "Hematohidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0013131", "ICD9:705.89", "MEDGEN:633305", "SCTID:238757003", "UMLS:C0473554"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.", "id": "MONDO:0023682", "name": "Tympanic paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tympanic paraganglioma"], "xref": ["GARD:0008658", "GTR:AN0102047", "GTR:AN0102048", "MEDGEN:105375", "MESH:D043604", "NCIT:C8428", "SCTID:253031000", "UMLS:C0474820"]}
{"category": ["biolink:Disease"], "description": "A maple syrup urine disease caused by mutations in BCKDHA.", "id": "MONDO:0023691", "name": "Maple syrup urine disease type 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["maple syrup urine disease type 1A", "maple syrup urine disease, type IA"], "xref": ["DOID:0061203", "GARD:0008594", "MEDGEN:383668", "OMIM:248600", "UMLS:C1855369"]}
{"category": ["biolink:Disease"], "description": "A maple syrup urine disease caused by mutations in BCKDHB.", "id": "MONDO:0023692", "name": "Maple syrup urine disease type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["maple syrup urine disease type 1B"], "xref": ["DOID:0061206", "GARD:0008597", "MEDGEN:443951", "OMIM:620698", "UMLS:C2930990"]}
{"category": ["biolink:Disease"], "description": "A maple syrup urine disease caused by mutations in DBT.", "id": "MONDO:0023693", "name": "Maple syrup urine disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["maple syrup urine disease type 2"], "xref": ["DOID:0061207", "GARD:0008596", "HGNC:2698", "MEDGEN:343337", "OMIM:620699", "UMLS:C1855371"]}
{"category": ["biolink:Disease"], "description": "A disease with similar features to Marinesco-Sjogren syndrome.", "id": "MONDO:0023696", "name": "Marinesco-sjogren-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:163207", "MESH:C535913", "OMIM:248810", "UMLS:C0796036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023699", "name": "Maroteaux fonfria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003397", "MEDGEN:418985", "MESH:C536023", "UMLS:C2931088"]}
{"category": ["biolink:Disease"], "description": "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0023704", "name": "Martinez monasterio pinheiro syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:rare"], "xref": ["GARD:0003404", "MEDGEN:419330", "MESH:C536027", "UMLS:C2931089"]}
{"category": ["biolink:Disease"], "description": "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.", "id": "MONDO:0023726", "name": "Mediastinal yolk sac tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["endodermal sinus neoplasm of mediastinum", "endodermal sinus neoplasm of the mediastinum", "endodermal sinus tumor of mediastinum", "endodermal sinus tumor of the mediastinum", "endodermal sinus tumour of mediastinum", "endodermal sinus tumour of the mediastinum", "mediastinal endodermal sinus neoplasm", "mediastinal endodermal sinus tumor", "mediastinal endodermal sinus tumour", "mediastinal yolk Sac neoplasm", "mediastinal yolk Sac tumor", "mediastinal yolk Sac tumour", "mediastinum yolk sac tumor", "mediastinum yolk sac tumour", "yolk Sac neoplasm of mediastinum", "yolk Sac neoplasm of the mediastinum", "yolk Sac tumor of mediastinum", "yolk Sac tumor of the mediastinum", "yolk Sac tumour of mediastinum", "yolk Sac tumour of the mediastinum"], "xref": ["GARD:0008258", "MEDGEN:233176", "NCIT:C6443", "UMLS:C1334683"]}
{"category": ["biolink:Disease"], "description": "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.", "id": "MONDO:0023757", "name": "Meralgia paresthetica", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0009417", "ICD10CM:G57.1", "ICD9:355.1", "MEDGEN:101817", "MESH:C537458", "SCTID:85007004", "UMLS:C0152110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023809", "name": "Milner-khallouf-gibson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419429", "MESH:C537473", "UMLS:C2931503"]}
{"category": ["biolink:Disease"], "description": "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.", "id": "MONDO:0023833", "name": "Multifocal choroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0009824", "MEDGEN:288551", "MESH:C537374", "MESH:D000080364", "SCTID:414783007", "UMLS:C1533060", "icd11.foundation:1197219411"]}
{"category": ["biolink:Disease"], "description": "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.", "id": "MONDO:0023865", "name": "Corneal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["corneal infection", "infection of cornea", "infective keratitis", "keratitis caused by infection"], "xref": ["MEDGEN:152673", "NCIT:C83813", "Orphanet:519278", "SCTID:312428002", "UMLS:C0729777"]}
{"category": ["biolink:Disease"], "description": "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.", "id": "MONDO:0023868", "name": "Melanoma associated retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0012041", "MEDGEN:452708", "SCTID:312941005", "UMLS:C0730308", "icd11.foundation:2011212045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023880", "name": "Whim syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:96875", "OMIMPS:193670", "UMLS:C0472817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023910", "name": "Martsolf syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025377", "MEDGEN:208658", "OMIMPS:212720", "UMLS:C0796037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0023961", "name": "Visceral neuropathy, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:540202", "OMIMPS:243180", "UMLS:C0266834"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024171", "name": "Radio-digito-facial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024182", "name": "Dry beriberi", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070318", "ICD10CM:E51.11", "MEDGEN:541401", "UMLS:C0268670", "icd11.foundation:582233757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024183", "name": "Wet beriberi", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070317", "ICD10CM:E51.12", "MEDGEN:541400", "UMLS:C0268669", "icd11.foundation:1753713002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024189", "name": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:616263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024193", "name": "Portal hypertension, noncirrhotic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:934702", "OMIMPS:617068", "UMLS:C4310735"]}
{"category": ["biolink:Disease"], "description": "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.", "id": "MONDO:0024227", "name": "Miliaria pustulosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070319", "MEDGEN:507949", "SCTID:26988005", "UMLS:C0026114"]}
{"category": ["biolink:Disease"], "description": "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.", "id": "MONDO:0024228", "name": "Miliaria profunda", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070320", "ICD10CM:L74.2", "MEDGEN:537908", "SCTID:47317002", "UMLS:C0263468", "icd11.foundation:1540615212"]}
{"category": ["biolink:Disease"], "description": "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.", "id": "MONDO:0024229", "name": "Miliaria crystallina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070321", "ICD10CM:L74.1", "MEDGEN:757640", "UMLS:C3241961", "icd11.foundation:796835029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024234", "name": "Seckel like syndrome majoor-krakauer type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.", "id": "MONDO:0024235", "name": "Brenner tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Brenner tumor"], "xref": ["ICDO:9000/0", "MEDGEN:2345", "MESH:D001948", "NCIT:C39954", "ONCOTREE:BTOV", "UMLS:C0006160"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.", "id": "MONDO:0024237", "name": "Inherited neurodegenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic neurodegenerative disease", "hereditary neurodegenerative disease", "hereditary neurodegenerative disorder"], "xref": ["GARD:0020280", "MEDGEN:1825988", "MESH:D020271", "NCIT:C97073", "Orphanet:183500", "UMLS:C5680568"]}
{"category": ["biolink:Disease"], "description": "A neurodegenerative disease that involves the telencephalon.", "id": "MONDO:0024238", "name": "Cerebral degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral degeneration", "neurodegenerative disease of telencephalon", "telencephalon neurodegenerative disease"], "xref": ["ICD9:331.9", "MEDGEN:56343", "SCTID:418143002", "UMLS:C0154671"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cardiovascular system development.", "id": "MONDO:0024239", "name": "Congenital anomaly of cardiovascular system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiovascular system development disease", "congenital Abnormality of the circulatory system", "congenital anomaly of cardiovascular system", "congenital cardiovascular Abnormality", "congenital cardiovascular anomaly", "disorder of cardiovascular system development"], "xref": ["ICD9:747.89", "ICD9:747.9", "MEDGEN:777113", "NCIT:C35729", "SCTID:9904008", "UMLS:C3665496"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.", "id": "MONDO:0024240", "name": "Eccrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of eccrine sweat gland", "carcinoma, eccrine gland, malignant", "eccrine adenocarcinoma", "eccrine adenocarcinoma (morphologic abnormality)", "eccrine carcinoma", "eccrine carcinoma of skin", "eccrine sweat gland adenocarcinoma", "eccrine sweat gland carcinoma"], "xref": ["DOID:4920", "ICDO:8413/3", "MEDGEN:690083", "NCIT:C27255", "SCTID:400173004", "UMLS:C1266066"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024245", "name": "Ductal eccrine adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ductal eccrine adenocarcinoma", "ductal eccrine carcinoma", "malignant acrospiroma"], "xref": ["DOID:5570", "MEDGEN:266048", "NCIT:C43345", "SCTID:403939009", "UMLS:C1260964"]}
{"category": ["biolink:Disease"], "description": "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.", "id": "MONDO:0024246", "name": "Syringofibroadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acrosyringeal adenomatosis", "acrosyringeal nevus", "eccrine syringofibroadenoma", "eccrine syringofibroadenomatous hyperplasia", "syringofibroadenoma"], "xref": ["HP:0031018", "ICDO:8392/0", "MEDGEN:266096", "NCIT:C43356", "SCTID:403936002", "UMLS:C1266060"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.", "id": "MONDO:0024247", "name": "Benign eccrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign eccrine neoplasm", "benign eccrine neoplasm of skin", "benign eccrine neoplasm of the skin", "benign eccrine skin neoplasm", "benign eccrine skin tumor", "benign eccrine skin tumour", "benign eccrine sweat gland neoplasm", "benign eccrine tumor", "benign eccrine tumor of skin", "benign eccrine tumor of the skin", "benign eccrine tumour", "benign eccrine tumour of skin", "benign eccrine tumour of the skin", "benign skin tumor with eccrine differentiation", "benign skin tumour with eccrine differentiation", "eccrine sweat gland neoplasm, benign"], "xref": ["MEDGEN:231934", "NCIT:C6797", "SCTID:254715009", "UMLS:C1332493"]}
{"category": ["biolink:Disease"], "description": "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).", "id": "MONDO:0024249", "name": "Pityriasis lichenoides", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Pityriasis Lichenoides", "pityriasis lichenoides"], "xref": ["GARD:0010265", "MEDGEN:102482", "MESH:D017514", "NCIT:C85013", "SCTID:200983001", "UMLS:C0162853", "icd11.foundation:266281219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024250", "name": "Acute lichenoid pityriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0009768", "ICD9:696.5", "MEDGEN:57997", "SCTID:86487001", "UMLS:C0162852"]}
{"category": ["biolink:Disease"], "description": "A neurological syndrome caused by severe mercury poisoning.", "id": "MONDO:0024251", "name": "Minamata disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Chisso-Minamata disease"], "xref": ["GARD:0027913", "MEDGEN:43368", "SCTID:39640004", "UMLS:C0086626"]}
{"category": ["biolink:Disease"], "description": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0024257", "name": "Hereditary motor neuron disease", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["genetic anterior horn cell disease", "genetic motor neuron disease", "hereditary motor neuron disease"], "xref": ["GARD:0019478", "MEDGEN:78728", "Orphanet:98505", "SCTID:49793008", "UMLS:C0270763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024262", "name": "Massive neonatal aspiration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:542567", "SCTID:10269001", "UMLS:C0270152"]}
{"category": ["biolink:Disease"], "description": "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.", "id": "MONDO:0024263", "name": "Neonatal aspiration syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:578767", "NCIT:C118312", "SCTID:276533002", "UMLS:C0349468"]}
{"category": ["biolink:Disease"], "description": "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.", "id": "MONDO:0024264", "name": "Hypothyroidism, congenital, nongoitrous, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CHNG2", "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia", "hypothyroidism, congenital, nongoitrous, 2"], "xref": ["DOID:0070124", "GARD:0025378", "MEDGEN:358389", "MESH:C566852", "OMIM:218700", "UMLS:C1869118"]}
{"category": ["biolink:Disease"], "description": "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.", "id": "MONDO:0024265", "name": "Duane syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DURS1", "Duane retraction syndrome 1"], "xref": ["DOID:0061027", "GARD:0010763", "MEDGEN:201329", "OMIM:126800", "SCTID:128082002", "UMLS:C0994516"]}
{"category": ["biolink:Disease"], "description": "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.", "id": "MONDO:0024266", "name": "Patent ductus arteriosus 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDA3", "PRDM6 patent ductus arteriosus", "patent ductus arteriosus 3", "patent ductus arteriosus caused by mutation in PRDM6"], "xref": ["GARD:0018490", "MEDGEN:934720", "OMIM:617039", "UMLS:C4310753"]}
{"category": ["biolink:Disease"], "description": "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.", "id": "MONDO:0024268", "name": "Superficial mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["stratum corneum of epidermis fungal infectious disease"], "xref": ["DOID:0050133", "ICD9:117.9", "MEDGEN:755998", "SCTID:276206000", "UMLS:C2980104"]}
{"category": ["biolink:Disease"], "description": "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.", "id": "MONDO:0024270", "name": "Parasitic intestinal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestine parasitic infection", "parasitic intestinal disease"], "xref": ["EFO:0009561", "MEDGEN:7131", "MESH:D007411", "UMLS:C0021832"]}
{"category": ["biolink:Disease"], "description": "A parasitic helminthiasis infectious disease that involves the intestine.", "id": "MONDO:0024271", "name": "Intestinal helminthiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intestine parasitic helminthiasis infectious disease"], "xref": ["MEDGEN:87591", "MESH:C531698", "SCTID:26249004", "UMLS:C0348287"]}
{"category": ["biolink:Disease"], "description": "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.", "id": "MONDO:0024275", "name": "Amebic dysentery", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["amebic dysentery"], "xref": ["MEDGEN:8512", "MESH:D004404", "NCIT:C34558", "UMLS:C0013370"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024276", "name": "Glandular cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glandular cell epithelial neoplasm", "glandular cell epithelium neoplasm", "glandular cell neoplasm", "glandular cell tumor", "glandular cell tumour"], "xref": ["HP:0031493", "MEDGEN:64458", "NCIT:C7132", "UMLS:C0205854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024277", "name": "Neonatal thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["neonatal thrombocytopenia"], "xref": ["GARD:0025379", "MEDGEN:526130", "MESH:D054098", "SCTID:82835005", "UMLS:C0221028"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the rectum and colon.", "id": "MONDO:0024278", "name": "Proctocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colorectum inflammation", "inflammation of colorectum", "proctocolitis"], "xref": ["MEDGEN:18651", "MESH:D011350", "NCIT:C77952", "SCTID:418130002", "UMLS:C0033247"]}
{"category": ["biolink:Disease"], "description": "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.", "id": "MONDO:0024279", "name": "Chronic endometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic endometritis", "endometritis, chronic"], "xref": ["MEDGEN:536766", "NCIT:C102820", "SCTID:63922003", "UMLS:C0238104", "icd11.foundation:440849195"]}
{"category": ["biolink:Disease"], "description": "An arthritis affecting five or more separate joints.", "id": "MONDO:0024280", "name": "Polyarticular arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["polyarthritis", "polyarticular arthritis"], "xref": ["MEDGEN:56408", "NCIT:C26996", "SCTID:416956002", "UMLS:C0162323"]}
{"category": ["biolink:Disease"], "description": "A group of conditions used to describe polyarthritis occurring in children.", "id": "MONDO:0024281", "name": "Juvenile chronic polyarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["juvenile chronic polyarthritis"], "xref": ["MEDGEN:140816", "NCIT:C26979", "UMLS:C0409667"]}
{"category": ["biolink:Disease"], "description": "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.", "id": "MONDO:0024282", "name": "Mucinous ovarian cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant ovarian mucinous neoplasm", "malignant ovarian mucinous tumor", "malignant ovarian mucinous tumour", "ovarian mucinous neoplasm, malignant"], "xref": ["GARD:0025380", "MEDGEN:274767", "NCIT:C40033", "ONCOTREE:MOV", "UMLS:C1518233"]}
{"category": ["biolink:Disease"], "description": "A demodicidosis that involves the hair follicle.", "id": "MONDO:0024283", "name": "Demodex folliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hair follicle demodicidosis"], "xref": ["GARD:0025381", "ICD9:133.8", "ICD9:704.8", "MEDGEN:1876477", "SCTID:240894003", "UMLS:C5979892", "icd11.foundation:1602267881"]}
{"category": ["biolink:Disease"], "description": "A demodicidosis that involves the sebaceous gland.", "id": "MONDO:0024284", "name": "Demodicidosis of sebaceous gland", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sebaceous gland demodicidosis"], "xref": ["GARD:0025382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024285", "name": "Epsilon-heavy chain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025383", "ICD9:273.2", "MEDGEN:543922", "SCTID:60620005", "UMLS:C0272254"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from arteries or veins.", "id": "MONDO:0024286", "name": "Benign blood vessel neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign blood vessel neoplasm", "benign blood vessel tumor", "benign blood vessel tumour"], "xref": ["DOID:60006", "MEDGEN:195779", "NCIT:C8537", "UMLS:C0685121"]}
{"category": ["biolink:Disease"], "description": "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.", "id": "MONDO:0024287", "name": "Congenital vascular malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital vascular malformation"], "xref": ["MEDGEN:743837", "NCIT:C112117", "UMLS:C1961121"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by elevated level of the pigment bilirubin in the blood.", "id": "MONDO:0024288", "name": "Hyperbilirubinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperbilirubinemia"], "xref": ["MEDGEN:86321", "MESH:D006932", "SCTID:14783006", "UMLS:C0311468"]}
{"category": ["biolink:Disease"], "description": "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).", "id": "MONDO:0024290", "name": "Enuresis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enuresis"], "xref": ["MEDGEN:8649", "MESH:D004775", "NCIT:C34588", "UMLS:C0014394", "icd11.foundation:1157749237"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic disorder that is the result of defects of vascular morphogenesis.", "id": "MONDO:0024291", "name": "Vascular malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vascular malformation"], "xref": ["EFO:0006888", "MEDGEN:56387", "MESH:D054079", "NANDO:2100295", "UMLS:C0158570"]}
{"category": ["biolink:Disease"], "description": "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.", "id": "MONDO:0024292", "name": "Gastrointestinal polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["GI polyp", "gastrointestinal polyp", "gastrointestinal tract polyp"], "xref": ["MEDGEN:219797", "NCIT:C35516", "UMLS:C1257915"]}
{"category": ["biolink:Disease"], "description": "Skin diseases caused by bacteria, fungi, parasites, or viruses.", "id": "MONDO:0024294", "name": "Skin disorder caused by infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MESH:D012874"]}
{"category": ["biolink:Disease"], "description": "Skin diseases caused by bacteria.", "id": "MONDO:0024295", "name": "Skin disease caused by bacterial infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bacteria caused skin disease caused by infection", "Bacteria skin disease caused by infection"], "xref": ["MESH:D017192"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.", "id": "MONDO:0024296", "name": "Vascular neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of vascular system", "neoplasm of vascular tissue", "neoplasms, vascular", "tumor of vascular system", "tumor of vascular tissue", "tumors, vascular", "tumour of vascular system", "tumour of vascular tissue", "vascular neoplasm", "vascular neoplasms", "vascular system neoplasm", "vascular system neoplasm (disease)", "vascular system tumor", "vascular system tumour", "vascular tissue neoplasm", "vascular tissue tumor", "vascular tissue tumour", "vascular tumor", "vascular tumors", "vascular tumour", "vascular tumours"], "xref": ["MEDGEN:129202", "NCIT:C7388", "UMLS:C0282607"]}
{"category": ["biolink:Disease"], "description": "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.", "id": "MONDO:0024298", "name": "Vitamin deficiency disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["avitaminosis", "vitamin deficiency", "vitamin deficiency disorder"], "xref": ["ICD9:269.1", "ICD9:269.2", "MEDGEN:267607", "MESH:D001361", "NCIT:C35772", "SCTID:85670002", "UMLS:C1510471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024299", "name": "Vitamin d-dependent rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["VDDR"], "xref": ["DOID:0080883", "GARD:0025384", "MEDGEN:526251", "NANDO:1200781", "NANDO:2100144", "NANDO:2200401", "SCTID:68295002", "UMLS:C0221468"]}
{"category": ["biolink:Disease"], "description": "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.", "id": "MONDO:0024300", "name": "Hypophosphatemic rickets", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Phosphopenic rickets", "hypophosphatemic rickets"], "xref": ["GARD:0025385", "MEDGEN:309957", "MESH:D063730", "NANDO:1200778", "NANDO:1200780", "NANDO:2200402", "NANDO:2200403", "NCIT:C131449", "UMLS:C1704375"]}
{"category": ["biolink:Disease"], "description": "An instance of mineral metabolism disease that is acquired during the lifetime of the individual.", "id": "MONDO:0024301", "name": "Acquired mineral metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired mineral metabolism disease"], "xref": ["DOID:0050032"]}
{"category": ["biolink:Disease"], "description": "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.", "id": "MONDO:0024302", "name": "Internal hirudiniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:B83.4", "MEDGEN:578592", "SCTID:187227006", "UMLS:C0348999", "icd11.foundation:1840948804"]}
{"category": ["biolink:Disease"], "description": "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.", "id": "MONDO:0024303", "name": "External hirudiniasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:B88.3", "MEDGEN:838360", "SCTID:1086871000119109", "UMLS:C0392037", "icd11.foundation:1781413652"]}
{"category": ["biolink:Disease"], "description": "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.", "id": "MONDO:0024304", "name": "Ichthyosis vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ichthyosis vulgaris"], "xref": ["GARD:0006752", "MEDGEN:38217", "MESH:D016112", "NCIT:C84778", "UMLS:C0079584", "icd11.foundation:841161884"]}
{"category": ["biolink:Disease"], "description": "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.", "id": "MONDO:0024305", "name": "Acquired hyperprolactinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["acquired hyperprolactinemia (disease)"], "xref": ["DOID:12700"]}
{"category": ["biolink:Disease"], "description": "An instance of lactic acidosis that is acquired during the lifetime of the individual.", "id": "MONDO:0024306", "name": "Acquired lactic acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acquired lactic acidosis"], "xref": ["DOID:3650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024307", "name": "Prothrombin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025386", "MEDGEN:1651913", "UMLS:C4722227"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.", "id": "MONDO:0024308", "name": "Pseudoxanthoma elasticum (inherited or acquired)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PXE"], "xref": ["ICD9:757.39", "MEDGEN:18733", "NANDO:1200643", "SCTID:252246005", "UMLS:C0033847"]}
{"category": ["biolink:Disease"], "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13", "id": "MONDO:0024309", "name": "Neuropathy, hereditary sensory and autonomic, type 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HSAN 2A", "HSAN2A", "HSN 2A", "neuropathy, hereditary sensory and autonomic, type II", "neuropathy, hereditary sensory and autonomic, type IIA", "neuropathy, hereditary sensory, type 2A"], "xref": ["DOID:0070155", "GARD:0015129", "MEDGEN:416701", "OMIM:201300", "UMLS:C2752089"]}
{"category": ["biolink:Disease"], "description": "A angiodysplasia that involves the stomach.", "id": "MONDO:0024310", "name": "Angiodysplasia of stomach", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["stomach angiodysplasia"], "xref": ["MEDGEN:677051", "SCTID:424802006", "UMLS:C0744273", "icd11.foundation:977696596"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the limb bone.", "id": "MONDO:0024311", "name": "Cancer affecting bone of limb skeleton", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of limb bone", "limb bone cancer", "malignant limb bone neoplasm", "malignant neoplasm of limb bone"], "xref": ["GARD:0025387", "ICD10CM:C40", "MEDGEN:1843503", "UMLS:C0494152"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024312", "name": "Cancer of short bone of upper limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025388", "ICD10CM:C40.1", "MEDGEN:726937", "UMLS:C1306142"]}
{"category": ["biolink:Disease"], "description": "An infection caused by Staphylococcus.", "id": "MONDO:0024313", "name": "Staphylococcal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["staphylococcal infection"], "xref": ["EFO:1001849", "MEDGEN:52483", "MESH:D013203", "NCIT:C35038", "SCTID:56038003", "UMLS:C0038160"]}
{"category": ["biolink:Disease"], "description": "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)", "id": "MONDO:0024314", "name": "Parasitemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:116650", "MESH:D018512", "UMLS:C0242723"]}
{"category": ["biolink:Disease"], "description": "Infection of the epicondyles by a parasite.", "id": "MONDO:0024315", "name": "Parasitic endophthalmitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["parasitic endophthalmitis"], "xref": ["GARD:0025390", "ICD9:360.13", "MEDGEN:4954", "NCIT:C34587", "SCTID:57100005", "UMLS:C0014238", "icd11.foundation:935014361"]}
{"category": ["biolink:Disease"], "description": "A dysfunction in biological function that is due to a psychological process.", "id": "MONDO:0024316", "name": "Physiological malfunction arising from mental factor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["physiological malfunction arising from mental Factor"], "xref": ["MEDGEN:102310", "NCIT:C35186", "UMLS:C0154548"]}
{"category": ["biolink:Disease"], "description": "Chronic form of disorder involving pain.", "id": "MONDO:0024317", "name": "Chronic pain syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["chronic disorder involving pain", "chronic pain disease", "disorder involving pain, chronic"], "xref": ["ICD10CM:G89.4", "ICD9:338.4", "MEDGEN:720585", "SCTID:373621006", "UMLS:C1298685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024318", "name": "Viral infection of central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["viral infection of central nervous system"], "xref": ["GARD:0025391", "ICD10CM:A80-A89", "ICD10WHO:A80-A89", "MEDGEN:91141", "MESH:D020805", "SCTID:302810003", "UMLS:C0348165"]}
{"category": ["biolink:Disease"], "description": "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.", "id": "MONDO:0024320", "name": "Inner ear neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inner Ear neoplasm", "internal Ear neoplasm", "internal ear neoplasm", "internal ear neoplasm (disease)", "internal ear tumor", "internal ear tumour", "neoplasm of internal ear", "tumor of internal ear", "tumour of internal ear"], "xref": ["MEDGEN:268582", "NCIT:C39784", "UMLS:C1512779"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of GPI anchor biosynthetic process.", "id": "MONDO:0024321", "name": "Disorder of gpi anchor biosynthesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected"], "synonym": ["GPI anchor biosynthetic process disease", "GPIBD", "disorder of GPI anchor biosynthetic process", "glycosylphosphatidylinositol biosynthesis defect"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of glycosylation.", "id": "MONDO:0024322", "name": "Disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["disorder of glycosylation", "glycosylation disease"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.", "id": "MONDO:0024323", "name": "Glomangiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glomangiomyoma"], "xref": ["DOID:8020", "GARD:0025392", "ICDO:8713/0", "MEDGEN:87240", "NCIT:C4223", "UMLS:C0334422"]}
{"category": ["biolink:Disease"], "description": "A glomangiomyoma that involves the zone of skin.", "id": "MONDO:0024325", "name": "Cutaneous glomangiomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["glomangiomyoma of skin", "zone of skin glomangiomyoma"], "xref": ["GARD:0025393", "ICD9:227.6", "MEDGEN:698513", "SCTID:403971002", "UMLS:C1275227"]}
{"category": ["biolink:Disease"], "description": "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.", "id": "MONDO:0024326", "name": "Pleural adenomatoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["benign mesothelioma of pleura", "benign mesothelioma of the pleura", "pleura adenomatoid tumor", "pleura adenomatoid tumour", "pleural adenomatoid tumor", "pleural benign mesothelioma", "pleural mesothelioma, benign"], "xref": ["GARD:0027129", "MEDGEN:83408", "NCIT:C4499", "Orphanet:675814", "UMLS:C0346112"]}
{"category": ["biolink:Disease"], "description": "Impairment of the renal function due to chronic kidney damage.", "id": "MONDO:0024327", "name": "Chronic renal failure syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CRF - chronic renal failure", "chronic kidney failure", "chronic renal failure", "chronic renal failure disease", "kidney failure, chronic"], "xref": ["ICD9:585.9", "MEDGEN:9637", "MESH:D051436", "NANDO:2100023", "NCIT:C9438", "SCTID:90688005", "UMLS:C0022661"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.", "id": "MONDO:0024330", "name": "Infectious otitis media", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AOM", "acute otitis Media", "infectious otitis Media", "middle Ear infection"], "xref": ["MEDGEN:443472", "NCIT:C84354", "UMLS:C2827407"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.", "id": "MONDO:0024331", "name": "Colorectal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CRC", "carcinoma of colorectum", "carcinoma of large bowel", "carcinoma of large intestine", "carcinoma of the large bowel", "carcinoma of the large intestine", "colorectal carcinoma", "colorectum carcinoma", "large bowel carcinoma", "large intestine carcinoma"], "xref": ["DOID:0080199", "EFO:1001951", "MEDGEN:3170", "NCIT:C2955", "UMLS:C0009402"]}
{"category": ["biolink:Disease"], "description": "Allergic rhinitis caused by indoor allergens and lasting year round.", "id": "MONDO:0024332", "name": "Perennial allergic rhinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-seasonal allergic rhinitis", "nonseasonal allergic rhinitis", "perennial allergic rhinitis"], "xref": ["EFO:1001417", "MEDGEN:19783", "MESH:D012221", "NCIT:C92189", "SCTID:446096008", "UMLS:C0035457", "icd11.foundation:1273917262"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.", "id": "MONDO:0024333", "name": "Sciatica", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:M54.3", "ICD9:724.3", "MEDGEN:19893", "MESH:D012585", "SCTID:23056005", "UMLS:C0036396", "icd11.foundation:2056651014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024334", "name": "Peripheral nerve lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025395", "MEDGEN:1843468", "UMLS:C1963788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024335", "name": "Retrobulbar neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027914", "ICD10CM:H46.1", "MEDGEN:39312", "SCTID:230507009", "UMLS:C0085582", "icd11.foundation:63567539"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.", "id": "MONDO:0024336", "name": "Vulvar adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["adenocarcinoma of the vulva", "adenocarcinoma of vulva", "mammalian vulva adenocarcinoma", "vulva adenocarcinoma", "vulvar adenocarcinoma"], "xref": ["DOID:2098", "GARD:0022007", "MEDGEN:234480", "NCIT:C6380", "Orphanet:494454", "UMLS:C1336975"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a urothelium.", "id": "MONDO:0024337", "name": "Urothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of urothelium", "transitional cell neoplasm of the urinary tract", "tumor of urothelium", "tumour of urothelium", "urothelial neoplasm", "urothelium neoplasm", "urothelium neoplasm (disease)", "urothelium tumor", "urothelium tumour"], "xref": ["MEDGEN:275551", "NCIT:C39852", "UMLS:C1519840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024338", "name": "Mucinous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mucinous neoplasm", "mucinous tumor", "mucinous tumour"], "xref": ["MEDGEN:235339", "NCIT:C7070", "UMLS:C1334811"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a lymph node.", "id": "MONDO:0024339", "name": "Lymph node neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["lymph node neoplasm", "lymph node neoplasm (disease)", "lymph node tumor", "lymph node tumour", "neoplasm of lymph node", "tumor of lymph node", "tumour of lymph node"], "xref": ["GARD:0006932", "MEDGEN:108920", "NCIT:C35497", "UMLS:C0596869"]}
{"category": ["biolink:Disease"], "description": "A neuroblastoma arising from the retina.", "id": "MONDO:0024340", "name": "Retinal neuroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["neuroblastoma of retina", "neuroblastoma of the retina", "retina neuroblastoma", "retinal neuroblastoma"], "xref": ["GARD:0025396", "MEDGEN:1830429", "NCIT:C6956", "UMLS:C5779888"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.", "id": "MONDO:0024341", "name": "Retinal cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["retinal cell neoplasm", "retinal cell tumor", "retinal cell tumour", "retinal neural cell neoplasm"], "xref": ["MEDGEN:277595", "NCIT:C7061", "UMLS:C1335765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024343", "name": "Pityriasis simplex", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pityriasis simplex"], "xref": ["ICD9:690.18", "MEDGEN:602609", "SCTID:200767005", "UMLS:C0423775"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024344", "name": "Pityriasis folliculorum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pityriasis folliculorum"], "xref": ["ICD9:696.5", "MEDGEN:590298", "SCTID:200993008", "UMLS:C0406312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024346", "name": "Pityriasis amiantacea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pityriasis amiantacea"], "xref": ["ICD9:696.5", "MEDGEN:575384", "SCTID:238924007", "UMLS:C0343100", "icd11.foundation:210953452"]}
{"category": ["biolink:Disease"], "description": "A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name \"pityriasis alba\" derives from its appearance, where \"pityriasis\" denotes the fine scales and \"alba\" signifies the pale color (hypopigmentation).", "id": "MONDO:0024349", "name": "Pityriasis alba", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:L30.5", "ICD9:696.5", "MEDGEN:39322", "SCTID:402296004", "UMLS:C0085657", "icd11.foundation:1386947078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024350", "name": "Pityriasis steatoides", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pityriasis steatoides"], "xref": ["ICD9:696.5", "MEDGEN:698103", "SCTID:403426003", "UMLS:C1274781"]}
{"category": ["biolink:Disease"], "description": "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.", "id": "MONDO:0024352", "name": "Viral respiratory tract infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["viral respiratory tract infection"], "xref": ["ICD9:519.8", "MEDGEN:163755", "NCIT:C27219", "SCTID:312133006", "UMLS:C0877203"]}
{"category": ["biolink:Disease"], "description": "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.", "id": "MONDO:0024354", "name": "Cytomegalovirus pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CMV pneumonia", "Cytomegaloviral pneumonia", "Cytomegalovirus caused pneumonia", "Cytomegalovirus pneumonia", "cytomegalovirus pneumonia"], "xref": ["MEDGEN:124443", "NCIT:C35360", "SCTID:7678002", "UMLS:C0276253"]}
{"category": ["biolink:Disease"], "description": "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.", "id": "MONDO:0024355", "name": "Respiratory tract infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD9:519.8", "MESH:D012141", "SCTID:275498002"]}
{"category": ["biolink:Disease"], "description": "A central sleep apnea syndrome considered to be idiopathic. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.", "id": "MONDO:0024356", "name": "Primary central sleep apnea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["primary central sleep apnea"], "xref": ["ICD10CM:G47.31", "ICD9:327.21", "MEDGEN:148385", "SCTID:9741000119101", "UMLS:C0751762"]}
{"category": ["biolink:Disease"], "description": "A central sleep apnea syndrome induced by medication or substance use. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.", "id": "MONDO:0024357", "name": "Drug induced central sleep apnea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["drug induced central sleep apnea"], "xref": ["MEDGEN:783188", "SCTID:104831000119109", "UMLS:C3662033"]}
{"category": ["biolink:Disease"], "description": "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.", "id": "MONDO:0024358", "name": "Complex sleep apnea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CompSAS", "complex sleep apnea"], "xref": ["DOID:0080302", "MEDGEN:83271", "SCTID:230493001", "UMLS:C0338495"]}
{"category": ["biolink:Disease"], "description": "A sleep-related disorder characterized by cyclical breathing patterns where periods of shallow or absent breathing (apneas or hypopneas) alternate with periods of deeper breathing (hyperpnea). This cyclical pattern is caused by an instability in the body's respiratory control system, where the brain doesn't properly regulate breathing effort.", "id": "MONDO:0024359", "name": "Central sleep apnea due to periodic breathing", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central sleep apnea due to periodic breathing"], "xref": ["ICD9:327.27", "ICD9:786.09", "MEDGEN:783212", "SCTID:85721000119105", "UMLS:C3662057"]}
{"category": ["biolink:Disease"], "description": "A central sleep apnea syndrome induced by sleeping at an altitude higher than 2000 m. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.", "id": "MONDO:0024360", "name": "Central sleep apnea caused by high altitude", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central sleep apnea due to high altitude", "central sleep apnea due to high-altitude periodic breathing", "high altitude-induced periodic breathing"], "xref": ["MEDGEN:884045", "SCTID:91441000119109", "UMLS:C4075997"]}
{"category": ["biolink:Disease"], "description": "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)", "id": "MONDO:0024361", "name": "Circadian rhythm sleep disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["circadian sleep disorder"], "xref": ["ICD10CM:G47.2", "ICD9:327.3", "MEDGEN:167920", "MESH:D020178", "NCIT:C95071", "UMLS:C0877792"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024363", "name": "Rapid eye movement sleep disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["repeated rapid eye movement sleep interruptions"], "xref": ["ICD9:379.59", "MEDGEN:581569", "SCTID:192004002", "UMLS:C0393768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024376", "name": "Sleep disorder, initiating and maintaining sleep", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorders of initiating and maintaining sleep"], "xref": ["MEDGEN:43897", "SCTID:194437008", "UMLS:C0021603"]}
{"category": ["biolink:Disease"], "description": "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.", "id": "MONDO:0024377", "name": "Circadian rhythm sleep disorder, delayed sleep phase type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DSPS", "delayed sleep phase syndrome", "sleep wake schedule disorder, delayed phase type"], "xref": ["DOID:0111141", "ICD10CM:G47.21", "MEDGEN:97962", "SCTID:28011000119104", "SCTID:80623000", "UMLS:C0393770"]}
{"category": ["biolink:Disease"], "description": "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.", "id": "MONDO:0024378", "name": "Circadian rhythm sleep disorder, advanced sleep phase type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circadian rhythm sleep disorder, advanced sleep phase type", "sleep-wake schedule disorder, advanced phase type"], "xref": ["ICD10CM:G47.22", "ICD9:327.32", "MEDGEN:199728", "SCTID:31537005", "UMLS:C0751758"]}
{"category": ["biolink:Disease"], "description": "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.", "id": "MONDO:0024379", "name": "Circadian rhythm sleep disorder, irregular sleep wake type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ISWD", "irregular sleep-wake disorder", "irregular sleep-wake pattern"], "xref": ["ICD10CM:G47.23", "ICD9:327.33", "MEDGEN:581571", "SCTID:271793004", "UMLS:C0393771"]}
{"category": ["biolink:Disease"], "description": "A circadian sleep disorder that results from traveling across time zones.", "id": "MONDO:0024381", "name": "Circadian rhythm sleep disorder, jet lag type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["jet lag"], "xref": ["ICD10CM:G47.25", "MEDGEN:115901", "UMLS:C0231311"]}
{"category": ["biolink:Disease"], "description": "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.", "id": "MONDO:0024382", "name": "Circadian rhythm sleep disorder, shift work type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["circadian rhythm sleep disorder of shift work type", "shift work disorder"], "xref": ["ICD10CM:G47.26", "MEDGEN:501114", "SCTID:713498009", "UMLS:C0393773"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.", "id": "MONDO:0024386", "name": "Large cell lung carcinoma, clear cell variant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clear cell carcinoma of lung, large cell type", "clear cell carcinoma of the lung, large cell type", "clear cell lung carcinoma, large cell type", "large cell lung carcinoma, clear cell variant"], "xref": ["MEDGEN:317518", "NCIT:C4451", "ONCOTREE:CCLC", "UMLS:C1707407"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor arising from the ovary, without metastatic potential.", "id": "MONDO:0024387", "name": "Benign ovarian sex cord-stromal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Sex cord stromal tumor, benign", "benign Sex cord-stromal neoplasm of ovary", "benign Sex cord-stromal neoplasm of the ovary", "benign Sex cord-stromal tumor of ovary", "benign Sex cord-stromal tumor of the ovary", "benign Sex cord-stromal tumour of ovary", "benign Sex cord-stromal tumour of the ovary", "benign ovarian Sex cord-stromal neoplasm", "benign ovarian Sex cord-stromal tumor", "benign ovarian Sex cord-stromal tumour", "ovarian SEX cord-stromal tumor, benign", "ovarian sex cord-stromal tumor, benign"], "xref": ["DOID:0080370", "GARD:0027915", "MEDGEN:231435", "NCIT:C6803", "UMLS:C1332528"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus clostridium.", "id": "MONDO:0024388", "name": "Clostridium infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:1000874", "ICD9:040.89", "MESH:D003015", "SCTID:56688005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024389", "name": "Anaerobic bacteria infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaerobic bacterial infection", "infection caused by anaerobic bacteria", "infection due to anaerobic bacteria"], "xref": ["ICD9:041.84", "MEDGEN:678527", "SCTID:423451008", "UMLS:C0854328"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024392", "name": "Anaerobic balanitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anaerobic balanitis"], "xref": ["MEDGEN:588642", "SCTID:236746000", "UMLS:C0403764"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Bifidobacterium.", "id": "MONDO:0024410", "name": "Infection caused by bifidobacterium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bifidobacterium caused disease or disorder", "Bifidobacterium disease or disorder", "Bifidobacterium infectious disease", "infection caused by Bifidobacterium"], "xref": ["MEDGEN:923145", "SCTID:721759009", "UMLS:C1096283"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Peptostreptococcus.", "id": "MONDO:0024412", "name": "Peptostreptococcus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Peptostreptococcus caused disease or disorder", "Peptostreptococcus disease or disorder", "Peptostreptococcus infection"], "xref": ["ICD9:041.84", "MEDGEN:842384", "SCTID:135341000119101", "UMLS:C1096562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024414", "name": "Anaerobic cellulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anaerobic cellulitis"], "xref": ["ICD9:041.84", "ICD9:682.9", "MEDGEN:537100", "SCTID:238401006", "UMLS:C0241828"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024415", "name": "Hemorrhagic duodenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemorrhagic duodenitis"], "xref": ["ICD9:535.61", "MEDGEN:137951", "SCTID:95531001", "UMLS:C0341245"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Neorickettsia.", "id": "MONDO:0024416", "name": "Neorickettsia infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Neorickettsia caused disease or disorder", "Neorickettsia disease or disorder", "neorickettsiosis"], "xref": ["GARD:0025397", "MEDGEN:547099", "SCTID:78355003", "UMLS:C0276121"]}
{"category": ["biolink:Disease"], "description": "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.", "id": "MONDO:0024417", "name": "Perceptual disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:45392", "MESH:D010468", "UMLS:C0030975"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024418", "name": "Muscular fibrosis multifocal obstructed vessels", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:2033"]}
{"category": ["biolink:Disease"], "description": "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.", "id": "MONDO:0024419", "name": "Enthesitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enthesis inflammation", "enthesitis", "inflammation of enthesis", "inflammatory enthesopathy"], "xref": ["MEDGEN:451081", "NCIT:C114470", "SCTID:359643005", "UMLS:C1282952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024421", "name": "Short stature contractures hypotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.", "id": "MONDO:0024422", "name": "Auditory perceptual disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare"], "synonym": ["disorder of sensory perception of sound", "sensory perception of sound disease"], "xref": ["MEDGEN:155527", "MESH:D001308", "NCIT:C84575", "SCTID:229752008", "UMLS:C0751257"]}
{"category": ["biolink:Disease"], "description": "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.", "id": "MONDO:0024429", "name": "Alice in wonderland syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:473310", "MESH:D062026", "NCIT:C116362", "UMLS:C0854348"]}
{"category": ["biolink:Disease"], "description": "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.", "id": "MONDO:0024430", "name": "Allesthesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:827104", "MESH:D066190", "UMLS:C3850010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024431", "name": "Bilirubin metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of bilirubin metabolism"], "xref": ["MEDGEN:541273", "SCTID:80006005", "UMLS:C0268305"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the nerve plexus.", "id": "MONDO:0024432", "name": "Nerve plexus disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disease of nerve plexus", "disease or disorder of nerve plexus", "disorder of nerve plexus", "nerve plexus disease", "nerve plexus disease or disorder", "nerve plexus disorder", "plexopathy"], "xref": ["DOID:3688", "EFO:0009559", "GARD:0025398", "MEDGEN:543047", "NCIT:C27744", "SCTID:2231001", "UMLS:C0270891"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the sacral nerve plexus.", "id": "MONDO:0024454", "name": "Sacral nerve plexus disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disease of sacral nerve plexus", "disease or disorder of sacral nerve plexus", "disorder of sacral nerve plexus", "sacral nerve plexus disease or disorder", "sacral nerve plexus disorder", "sacral plexopathy"], "xref": ["GARD:0007597", "MEDGEN:419804", "MESH:C537224", "UMLS:C2931445"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.", "id": "MONDO:0024455", "name": "Autosomal dominant robinow syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DRS1", "Robinow syndrome, autosomal dominant 1", "WNT5A autosomal dominant Robinow syndrome", "autosomal dominant Robinow syndrome caused by mutation in WNT5A", "dysostosis acral with facial and genital abnormalities"], "xref": ["DOID:0060766", "GARD:0002013", "MEDGEN:1641736", "OMIM:180700", "UMLS:C4551475"]}
{"category": ["biolink:Disease"], "description": "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)", "id": "MONDO:0024456", "name": "Anterior segment dysgenesis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ASGD3", "FOXC1 iridogoniodysgenesis", "IGDA", "IGDA syndrome", "IRID1", "anterior segment dysgenesis 3", "anterior segment dysgenesis 3, multiple subtypes", "iridogoniodysgenesis anomaly, autosomal dominant", "iridogoniodysgenesis caused by mutation in FOXC1", "iridogoniodysgenesis type 1", "iridogoniodysgenesis, type 1"], "xref": ["DOID:0080608", "GARD:0002978", "MEDGEN:1875235", "MESH:C535535", "OMIM:601631", "UMLS:C5975707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024457", "name": "Neurodegeneration with brain iron accumulation 2a", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["INAD", "NBIA2A", "NBIA2a", "PLAN", "inaD", "infantile neuroaxonal dystrophy", "neurodegeneration with brain iron accumulation 2A", "neurodegeneration with brain iron accumulation type 2A", "neurodegeneration with brain iron accumulation type 2a", "neurodegeneration, PLA2G6-associated", "neurodegeneration, Pla2G6-associated", "neurodegeneration, Pla2g6-associated", "phospholipase A2-associated neurodegeneration"], "xref": ["DOID:0110735", "GARD:0003957", "ICD9:330.8", "MEDGEN:82852", "MESH:C536071", "NANDO:1200537", "NCIT:C84927", "OMIM:256600", "Orphanet:35069", "SCTID:52713000", "UMLS:C0270724"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the visual system.", "id": "MONDO:0024458", "name": "Disorder of visual system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "synonym": ["disease of visual system", "disease or disorder of visual system", "disorder of visual system", "visual system disease", "visual system disease or disorder", "visual system disorder"], "xref": ["SCTID:128127008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024459", "name": "Aeromonas hydrophila intestinal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intestinal infection caused by Aeromonas hydrophila", "intestinal infection due to Aeromonas hydrophila"], "xref": ["ICD9:008.47", "MEDGEN:755174", "SCTID:446988001", "UMLS:C2960005"]}
{"category": ["biolink:Disease"], "description": "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.", "id": "MONDO:0024461", "name": "Angiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["angiomatosis", "diffuse angiomatosis", "diffuse hemangioma", "multiple hemangiomas"], "xref": ["MEDGEN:1931", "MESH:D000798", "NCIT:C27503", "SCTID:205562004", "UMLS:C0002992"]}
{"category": ["biolink:Disease"], "description": "A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0024462", "name": "Susceptibility to familial cutaneous melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["hereditary cutaneous melanoma (disease)", "melanoma, cutaneous malignant"], "xref": ["GARD:0027916", "MEDGEN:1388845", "OMIMPS:155600", "UMLS:C4511622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024463", "name": "Ovarian dysgenesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ODG1", "ovarian dysgenesis 1"], "xref": ["DOID:0080493", "GARD:0018039", "MEDGEN:215397", "OMIM:233300", "UMLS:C0949595"]}
{"category": ["biolink:Disease"], "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.", "id": "MONDO:0024464", "name": "Pituitary hormone deficiency, combined, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CPHD1", "POU1F1 combined pituitary hormone deficiencies, genetic form", "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1", "pituitary hormone deficiency, combined or isolated, 1", "pituitary hormone deficiency, combined, 1"], "xref": ["DOID:0061019", "GARD:0010601", "MEDGEN:414421", "MESH:C567803", "OMIM:613038", "UMLS:C2751608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024465", "name": "Surfactant metabolism dysfunction, pulmonary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMDP2", "desquamative interstitial pneumonitis due to surfactant Protein C deficiency", "interstitial lung disease due to surfactant Protein C deficiency", "pulmonary alveolar proteinosis, congenital, 2", "surfactant metabolism dysfunction, pulmonary, 2"], "xref": ["GARD:0025399", "MEDGEN:410078", "MESH:C567048", "OMIM:610913", "UMLS:C1970470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024466", "name": "Facial paresis, hereditary congenital, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HCFP1", "facial paresis, hereditary congenital, 1"], "xref": ["GARD:0025400", "MEDGEN:371292", "OMIM:601471", "UMLS:C1832284"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the apocrine sweat gland.", "id": "MONDO:0024467", "name": "Apocrine sweat gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["apocrine sweat gland disease", "apocrine sweat gland disease or disorder", "disease of apocrine sweat gland", "disease or disorder of apocrine sweat gland", "disorder of apocrine sweat gland"], "xref": ["ICD10CM:L75", "MEDGEN:1843461", "UMLS:C0477516"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the adenohypophysis.", "id": "MONDO:0024468", "name": "Anterior pituitary gland disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenohypophysis disease", "adenohypophysis disease or disorder", "disease of adenohypophysis", "disease or disorder of adenohypophysis", "disorder of adenohypophysis", "disorder of anterior pituitary"], "xref": ["ICD9:253.4", "ICD9:253.9", "MEDGEN:148306", "SCTID:51742006", "UMLS:C0751437"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.", "id": "MONDO:0024469", "name": "Chondrogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cartilaginous neoplasm", "cartilaginous tumor", "cartilaginous tumour", "chondrogenic neoplasm", "chondrogenic tumor", "chondrogenic tumour", "chondromatous neoplasm", "chondromatous tumor", "chondromatous tumour", "neoplasm of cartilage", "neoplasm of the cartilage", "tumor of cartilage", "tumor of the cartilage", "tumour of cartilage", "tumour of the cartilage"], "xref": ["MEDGEN:96904", "NCIT:C4755", "UMLS:C0476147"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.", "id": "MONDO:0024470", "name": "Benign chondrogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign cartilaginous neoplasm", "benign cartilaginous tumor", "benign cartilaginous tumour", "benign chondrogenic neoplasm", "benign chondrogenic tumor", "benign chondrogenic tumour", "benign neoplasm of cartilage", "benign neoplasm of the cartilage", "benign tumor of cartilage", "benign tumor of the cartilage", "benign tumour of cartilage", "benign tumour of the cartilage", "chondrogenic neoplasm, benign"], "xref": ["MEDGEN:208867", "NCIT:C8592", "SCTID:722690001", "UMLS:C0852519"]}
{"category": ["biolink:Disease"], "description": "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.", "id": "MONDO:0024472", "name": "Boutonneuse fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_etiological_subtype", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["African tick typhus", "Conor and Bruch's disease", "Kenya fever", "Kenya tick typhus", "Kenyan tick typhus", "Mediterranean spotted fever", "Mediterranean tick fever", "boutonneuse disease", "boutonneuse fever", "fievre boutonneuse", "marseilles fever", "tick typhus due to rickettsia conorii"], "xref": ["DOID:14095", "GARD:0019031", "ICD9:082.1", "MEDGEN:14205", "MESH:D001907", "MedDRA:10006045", "Orphanet:101334", "Orphanet:83313", "SCTID:186774005", "UMLS:C0006060", "icd11.foundation:1771381430"]}
{"category": ["biolink:Disease"], "description": "An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.", "id": "MONDO:0024473", "name": "Astrakhan spotted fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0050041", "GARD:0025401", "MEDGEN:1814171", "UMLS:C5574872"]}
{"category": ["biolink:Disease"], "description": "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).", "id": "MONDO:0024474", "name": "Intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelial dysplasia", "intraepithelial neoplasia", "intraepithelial neoplasm"], "xref": ["MEDGEN:164203", "NCIT:C8366", "UMLS:C0878500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024475", "name": "Squamous cell intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["squamous cell intraepithelial neoplasia", "squamous intraepithelial lesion"], "xref": ["MEDGEN:83092", "NCIT:C8334", "UMLS:C0333873"]}
{"category": ["biolink:Disease"], "description": "A epithelial neoplasm that involves the rectum.", "id": "MONDO:0024476", "name": "Epithelial neoplasm of rectum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["rectal epithelial neoplasm", "rectal epithelial tumor", "rectal epithelial tumour", "rectum epithelial neoplasm"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.", "id": "MONDO:0024477", "name": "Liver and intrahepatic bile duct neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["epithelial hepatic and intrahepatic bile duct neoplasm", "hepatic and intrahepatic bile duct neoplasm", "liver and intrahepatic bile duct epithelial neoplasm", "liver and intrahepatic bile duct neoplasm", "liver neoplasm", "liver neoplasm (disease)", "liver tumor", "liver tumour", "neoplasm of liver", "tumor of liver", "tumour of liver"], "xref": ["DOID:916", "MEDGEN:232599", "NCIT:C7103", "NCIT:C7106", "ONCOTREE:LIVER", "SCTID:126851005", "UMLS:C1333976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024478", "name": "Mesenchymal hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mesenchymal hamartoma"], "xref": ["MEDGEN:83108", "NCIT:C40427", "UMLS:C0334090"]}
{"category": ["biolink:Disease"], "description": "A epithelial neoplasm that involves the colon.", "id": "MONDO:0024479", "name": "Epithelial tumor of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["colon epithelial neoplasm"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024480", "name": "Dermatosis of eyelid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatosis of eyelid"], "xref": ["MEDGEN:697502", "SCTID:402700001", "UMLS:C1274150"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the cutaneous appendage.", "id": "MONDO:0024481", "name": "Skin appendage disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cutaneous appendage disease", "cutaneous appendage disease or disorder", "disease of cutaneous appendage", "disease or disorder of cutaneous appendage", "disorder of cutaneous appendage", "disorder of skin appendage"], "xref": ["ICD10CM:L60-L75", "MEDGEN:508145", "SCTID:238714008", "UMLS:C0037272"]}
{"category": ["biolink:Disease"], "description": "A hamartoma characterized by localized eccrine sweat gland malformation.", "id": "MONDO:0024482", "name": "Eccrine sweat gland hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eccrine sweat gland hamartoma", "eccrine sweat gland hamartoma (disease)", "hamartoma of eccrine sweat gland", "hamartoma of the eccrine sweat gland"], "xref": ["MEDGEN:232145", "NCIT:C5564", "UMLS:C1333372"]}
{"category": ["biolink:Disease"], "description": "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003", "id": "MONDO:0024483", "name": "Urothelial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["urothelial hyperplasia", "urothelium hyperplasia"], "xref": ["MEDGEN:234463", "NCIT:C27877", "UMLS:C1336895"]}
{"category": ["biolink:Disease"], "description": "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003", "id": "MONDO:0024485", "name": "Papillary urothelial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papillary urothelial hyperplasia"], "xref": ["MEDGEN:235457", "NCIT:C27879", "UMLS:C1335328"]}
{"category": ["biolink:Disease"], "description": "An infectious process affecting the nail.", "id": "MONDO:0024487", "name": "Nail infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["nail infection"], "xref": ["MEDGEN:87467", "NCIT:C78493", "UMLS:C0343026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024498", "name": "Glioma susceptibility 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GLM1", "glioblastoma, somatic", "glioma susceptibility 1", "glioma susceptibility 1, autosomal dominant, somatic mutation", "glioma, susceptibility to, somatic"], "xref": ["GARD:0027917", "MEDGEN:413414", "OMIM:137800", "UMLS:C2750850"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant vascular neoplasm that arises from the bone.", "id": "MONDO:0024499", "name": "Vascular bone neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["bone vascular neoplasm", "bone vascular tumor", "bone vascular tumour", "osseous vascular neoplasm", "osseous vascular tumor", "osseous vascular tumour", "vascular bone neoplasm", "vascular neoplasm of bone", "vascular neoplasm of the bone", "vascular tumor of bone", "vascular tumor of the bone", "vascular tumour of bone", "vascular tumour of the bone"], "xref": ["GARD:0025402", "MEDGEN:234986", "NCIT:C6478", "UMLS:C1336946"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine neoplasm that involves the duodenum.", "id": "MONDO:0024500", "name": "Duodenal neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["duodenum NET", "duodenum neuroendocrine neoplasm", "duodenum neuroendocrine tumor", "duodenum neuroendocrine tumor, well differentiated, low or intermediate grade", "duodenum neuroendocrine tumour", "neuroendocrine neoplasm of duodenum"], "xref": ["GARD:0025403", "MEDGEN:1800031", "UMLS:C5568608", "icd11.foundation:1585809486"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0024501", "name": "Appendix neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["appendix neuroendocrine neoplasm", "neuroendocrine neoplasm of vermiform appendix", "vermiform appendix NET", "vermiform appendix neuroendocrine neoplasm", "vermiform appendix neuroendocrine tumor", "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade", "vermiform appendix neuroendocrine tumour"], "xref": ["GARD:0025404", "MEDGEN:361887", "NCIT:C60709", "UMLS:C1879718"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).", "id": "MONDO:0024502", "name": "Gallbladder neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gall bladder NET", "gall bladder neuroendocrine neoplasm", "gall bladder neuroendocrine tumor", "gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade", "gall bladder neuroendocrine tumour", "gallbladder neuroendocrine neoplasm", "neuroendocrine neoplasm of gall bladder"], "xref": ["GARD:0025405", "MEDGEN:474748", "NCIT:C96917", "UMLS:C3273115"]}
{"category": ["biolink:Disease"], "description": "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).", "id": "MONDO:0024503", "name": "Digestive system neuroendocrine neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["alimentary part of gastrointestinal system NET", "alimentary part of gastrointestinal system neuroendocrine neoplasm", "alimentary part of gastrointestinal system neuroendocrine tumor", "alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade", "alimentary part of gastrointestinal system neuroendocrine tumour", "carcinoid tumor of digestive system", "carcinoid tumour of digestive system", "digestive system NET", "digestive system neuroendocrine neoplasm", "digestive system neuroendocrine tumor", "digestive system neuroendocrine tumor, well differentiated, low or intermediate grade", "digestive system neuroendocrine tumour", "gastro-enteropancreatic neuroendocrine tumor", "gastro-enteropancreatic neuroendocrine tumour", "gastroenteropancreatic endocrine tumor", "gastroenteropancreatic endocrine tumour", "gastroenteropancreatic neuroendocrine neoplasm", "gastrointestinal neuroendocrine neoplasm", "gastrointestinal system neuroendocrine neoplasm", "neuroendocrine neoplasm of alimentary part of gastrointestinal system", "neuroendocrine neoplasm of digestive system"], "xref": ["GARD:0002437", "MEDGEN:232237", "MESH:C535650", "NCIT:C27721", "Orphanet:100092", "UMLS:C1333799"]}
{"category": ["biolink:Disease"], "description": "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.", "id": "MONDO:0024504", "name": "Enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EC cell, serotonin producing pancreatic NET", "EC cell, serotonin producing pancreatic neuroendocrine tumor", "EC cell, serotonin producing pancreatic neuroendocrine tumour", "carcinoid neoplasm of pancreas", "carcinoid neoplasm of the pancreas", "carcinoid tumor of pancreas", "carcinoid tumor of the pancreas", "carcinoid tumour of pancreas", "carcinoid tumour of the pancreas", "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor", "pancreatic carcinoid tumor", "pancreatic carcinoid tumour", "pancreatic serotonin producing neoplasm", "pancreatic serotonin producing tumor", "pancreatic serotonin producing tumour", "serotonin-producing PNET", "serotonin-producing pancreatic NET", "serotonin-producing pancreatic neuroendocrine tumor", "serotonin-producing pancreatic neuroendocrine tumour", "serotonin-producing tumor of pancreas", "serotonin-producing tumor of the pancreas", "serotonin-producing tumour of pancreas", "serotonin-producing tumour of the pancreas"], "xref": ["GARD:0022055", "MEDGEN:91057", "NCIT:C4446", "Orphanet:506090", "UMLS:C0345933"]}
{"category": ["biolink:Disease"], "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.", "id": "MONDO:0024506", "name": "Adams-oliver syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AOS1", "ARHGAP31 Adams-Oliver syndrome", "Adams-Oliver syndrome 1", "Adams-Oliver syndrome caused by mutation in ARHGAP31"], "xref": ["GARD:0025406", "MEDGEN:1635567", "OMIM:100300", "UMLS:C4551482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024507", "name": "Aniridia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AN1", "aniridia 1", "cataract with late-onset corneal dystrophy"], "xref": ["DOID:0070532", "GARD:0025407", "MEDGEN:576337", "OMIM:106210", "SCTID:253231007", "UMLS:C0344542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024508", "name": "Epilepsy, hot water, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HWE1", "epilepsy, hot water, 1"], "xref": ["DOID:0081106", "GARD:0018286", "MEDGEN:1636069", "OMIM:613339", "UMLS:C4551550"]}
{"category": ["biolink:Disease"], "description": "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0024516", "name": "Familial acne inversa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ACNINV", "familial hidradenitis suppurativa", "hereditary hidradenitis suppurativa"], "xref": ["MEDGEN:326766", "OMIMPS:142690", "UMLS:C1840560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024517", "name": "Smarcb1-related schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SWNTS1", "schwannomatosis 1", "schwannomatosis, somatic"], "xref": ["DOID:0070480", "GARD:0025408", "MEDGEN:887689", "NCIT:C186703", "OMIM:162091", "UMLS:C4048809"]}
{"category": ["biolink:Disease"], "description": "A thrombocytosis caused by an underlying condition, such as an infection.", "id": "MONDO:0024518", "name": "Reactive thrombocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["secondary thrombocytosis"], "xref": ["GARD:0025409", "ICD9:286.9", "MEDGEN:630140", "SCTID:234500001", "UMLS:C0457506", "icd11.foundation:1096559251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024519", "name": "Renal hypodysplasia/aplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["RHDA1", "renal hypodysplasia/aplasia 1"], "xref": ["GARD:0004791", "MEDGEN:301437", "OMIM:191830", "UMLS:C1619700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024520", "name": "Renal hypodysplasia/aplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RHDA3", "renal hypodysplasia/aplasia 3"], "xref": ["GARD:0025410", "MEDGEN:1626497", "OMIM:617805", "UMLS:C4540497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024521", "name": "Aortic aneurysm, familial abdominal, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAA1", "aortic aneurysm, familial abdominal 1", "aortic aneurysm, familial abdominal, 1"], "xref": ["GARD:0016491", "MEDGEN:339961", "OMIM:100070", "UMLS:C1853365"]}
{"category": ["biolink:Disease"], "description": "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.", "id": "MONDO:0024522", "name": "Amyloidosis, primary localized cutaneous, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OSMR primary cutaneous amyloidosis", "PLCA1", "amyloidosis 9", "amyloidosis, primary cutaneous, 1", "amyloidosis, primary localised cutaneous, type 1", "amyloidosis, primary localized cutaneous, 1", "amyloidosis, primary localized cutaneous, type 1", "primary cutaneous amyloidosis caused by mutation in OSMR"], "xref": ["DOID:0080930", "GARD:0018637", "MEDGEN:1639046", "OMIM:105250", "UMLS:C4551501"]}
{"category": ["biolink:Disease"], "description": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.", "id": "MONDO:0024523", "name": "Aortic valve disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AOVD1", "NOTCH1 aortic valve disease", "Notch1 aortic valve disease", "aortic valve disease 1", "aortic valve disease caused by mutation in NOTCH1", "aortic valve disease caused by mutation in Notch1"], "xref": ["DOID:0080333", "GARD:0018470", "MEDGEN:854610", "OMIM:109730", "UMLS:C3887892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024524", "name": "Dyschromatosis universalis hereditaria 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DUH1", "dyschromatosis universalis hereditaria 1"], "xref": ["GARD:0025411", "MEDGEN:390864", "MESH:C567273", "OMIM:127500", "UMLS:C2675711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024525", "name": "Fanconi renotubular syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DeToni-Debré-Fanconi syndrome", "FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renal syndrome", "primary Fanconi renotubular syndrome"], "xref": ["DOID:0080757", "GARD:0025412", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"]}
{"category": ["biolink:Disease"], "description": "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.", "id": "MONDO:0024526", "name": "Zimmermann-laband syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNH1 Zimmermann-Laband syndrome", "ZLS1", "Zimmermann-Laband syndrome 1", "Zimmermann-Laband syndrome caused by mutation in KCNH1", "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly"], "xref": ["GARD:0015071", "MEDGEN:1639277", "NORD:1344", "OMIM:135500", "UMLS:C4551773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024527", "name": "Glomerulopathy with fibronectin deposits 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GFND1", "glomerulopathy with fibronectin deposits 1"], "xref": ["GARD:0009268", "MEDGEN:98017", "OMIM:137950", "UMLS:C0403557"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.", "id": "MONDO:0024528", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEOA1", "POLG autosomal dominant progressive external ophthalmoplegia", "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "progressive external ophthalmoplegia, autosomal dominant 1"], "xref": ["DOID:0111521", "GARD:0013174", "MEDGEN:371919", "OMIM:157640", "UMLS:C1834846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024529", "name": "Mvp1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MVP1"], "xref": ["GARD:0003688", "MEDGEN:320443", "OMIM:157700", "UMLS:C1834819"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024530", "name": "Bethlem myopathy 1a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061198", "GARD:0025413", "OMIM:158810"]}
{"category": ["biolink:Disease"], "description": "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.", "id": "MONDO:0024531", "name": "Myopathy, tubular aggregate, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STIM1 tubular aggregate myopathy", "myopathy, tubular aggregate, 1", "tubular aggregate myopathy caused by mutation in STIM1"], "xref": ["GARD:0025414", "MEDGEN:860163", "OMIM:160565", "UMLS:C4011726"]}
{"category": ["biolink:Disease"], "description": "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.", "id": "MONDO:0024532", "name": "Otofaciocervical syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EYA1 otofaciocervical syndrome", "otofaciocervical syndrome 1", "otofaciocervical syndrome caused by mutation in EYA1"], "xref": ["GARD:0016502", "MEDGEN:811516", "OMIM:166780", "UMLS:C3714941"]}
{"category": ["biolink:Disease"], "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.", "id": "MONDO:0024533", "name": "Pulmonary hypertension, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BMPR2 primary pulmonary hypertension", "primary pulmonary hypertension caused by mutation in BMPR2", "pulmonary hypertension, familial primary, 1, with or without HHT", "pulmonary hypertension, primary, 1", "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated"], "xref": ["GARD:0025415", "MEDGEN:1643124", "OMIM:178600", "UMLS:C4552070"]}
{"category": ["biolink:Disease"], "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.", "id": "MONDO:0024534", "name": "Dowling-degos disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Dowling-Degos disease 1", "Dowling-Degos disease caused by mutation in KRT5", "KRT5 Dowling-Degos disease"], "xref": ["GARD:0025416", "MEDGEN:1645697", "OMIM:179850", "UMLS:C4552092"]}
{"category": ["biolink:Disease"], "description": "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.", "id": "MONDO:0024535", "name": "Singleton-merten syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IFIH1 singleton-Merten dysplasia", "singleton-Merten dysplasia caused by mutation in IFIH1"], "xref": ["GARD:0025417", "MEDGEN:899946", "OMIM:182250", "UMLS:C4225427"]}
{"category": ["biolink:Disease"], "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.", "id": "MONDO:0024536", "name": "Glucocorticoid deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MC2R familial glucocorticoid deficiency", "familial glucocorticoid deficiency caused by mutation in MC2R", "glucocorticoid deficiency 1", "glucocorticoid deficiency, due to ACTH unresponsiveness"], "xref": ["DOID:0080621", "GARD:0025418", "MEDGEN:885551", "NANDO:1200408", "OMIM:202200", "UMLS:C4049650"]}
{"category": ["biolink:Disease"], "description": "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.", "id": "MONDO:0024537", "name": "Brown-vialetto-van laere syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Brown-Vialetto-Van Laere syndrome 1", "Brown-Vialetto-van Laere syndrome 1", "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3", "RTD2", "Riboflavin transporter deficiency 2", "SLC52A3 Brown-Vialetto-van Laere syndrome", "rfvt2-related riboflavin transporter deficiency"], "xref": ["DOID:0080785", "GARD:0018010", "MEDGEN:163239", "NCIT:C133724", "OMIM:211530", "Orphanet:572543", "UMLS:C0796274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024538", "name": "Basal ganglia calcification, idiopathic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["IBGC1", "IBGC2", "basal ganglia calcification, idiopathic, 1", "basal ganglia calcification, idiopathic, 2", "basal ganglia calcification, idiopathic, type 1", "idiopathic basal ganglia calcification 1"], "xref": ["GARD:0025419", "MEDGEN:1637664", "MESH:C537657", "NANDO:1200208", "NCIT:C129973", "OMIM:213600", "OMIM:606656", "UMLS:C4551624"]}
{"category": ["biolink:Disease"], "description": "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.", "id": "MONDO:0024539", "name": "Choroidal dystrophy, central areolar, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GUCY2D central areolar choroidal dystrophy", "central areolar choroidal dystrophy caused by mutation in GUCY2D", "choroidal dystrophy, central areolar 1", "choroidal dystrophy, central areolar, 1"], "xref": ["GARD:0025420", "MEDGEN:1639900", "OMIM:215500", "UMLS:C4551884"]}
{"category": ["biolink:Disease"], "description": "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.", "id": "MONDO:0024540", "name": "Jervell and lange-nielsen syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Jervell and Lange-Nielsen syndrome 1", "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1", "KCNQ1 Jervell and Lange-Nielsen syndrome"], "xref": ["GARD:0025421", "MEDGEN:1646925", "OMIM:220400", "UMLS:C4551509"]}
{"category": ["biolink:Disease"], "description": "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.", "id": "MONDO:0024541", "name": "Trichohepatoenteric syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TRICHOHEPATOENTERIC syndrome 1", "TTC37 tricho-hepato-enteric syndrome", "tricho-hepato-enteric syndrome caused by mutation in TTC37", "trichohepatoenteric syndrome 1"], "xref": ["DOID:0111415", "GARD:0025422", "MEDGEN:1644087", "OMIM:222470", "UMLS:C4551982"]}
{"category": ["biolink:Disease"], "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.", "id": "MONDO:0024542", "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["VLDLR dysequilibrium syndrome", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1", "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1", "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1", "dysequilibrium syndrome caused by mutation in VLDLR"], "xref": ["DOID:0070556", "GARD:0025423", "MEDGEN:1639436", "OMIM:224050", "UMLS:C4551552"]}
{"category": ["biolink:Disease"], "description": "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.", "id": "MONDO:0024543", "name": "Brittle cornea syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZNF469 brittle cornea syndrome", "brittle cornea syndrome 1", "brittle cornea syndrome caused by mutation in ZNF469"], "xref": ["GARD:0025424", "MEDGEN:78661", "MESH:C536192", "OMIM:229200", "SCTID:31798004", "UMLS:C0268344"]}
{"category": ["biolink:Disease"], "description": "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.", "id": "MONDO:0024545", "name": "Miyoshi muscular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DYSF Miyoshi myopathy", "Miyoshi myopathy caused by mutation in DYSF"], "xref": ["DOID:0070199", "GARD:0025425", "MEDGEN:1640757", "OMIM:254130", "UMLS:C4551973"]}
{"category": ["biolink:Disease"], "description": "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.", "id": "MONDO:0024546", "name": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HPGD primary hypertrophic osteoarthropathy", "hypertrophic osteoarthropathy, primary, autosomal recessive 1", "hypertrophic osteoarthropathy, primary, autosomal recessive, 1", "primary hypertrophic osteoarthropathy caused by mutation in HPGD"], "xref": ["GARD:0015216", "MEDGEN:1641972", "OMIM:259100", "UMLS:C4551679"]}
{"category": ["biolink:Disease"], "description": "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.", "id": "MONDO:0024547", "name": "Pancreatic agenesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDX1 pancreatic agenesis", "pancreatic agenesis 1", "pancreatic agenesis caused by mutation in PDX1"], "xref": ["DOID:0061003", "GARD:0015220", "MEDGEN:856095", "OMIM:260370", "UMLS:C3891828"]}
{"category": ["biolink:Disease"], "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.", "id": "MONDO:0024548", "name": "Peeling skin syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["CDSN peeling skin syndrome", "PSS type B", "generalised deciduous skin type B", "generalised peeling skin syndrome type B", "generalized deciduous skin type B", "generalized peeling skin syndrome type B", "inflammatory peeling skin syndrome", "peeling skin syndrome 1", "peeling skin syndrome caused by mutation in CDSN", "peeling skin syndrome type B"], "xref": ["DOID:0070520", "GARD:0017259", "MEDGEN:1885521", "OMIM:270300", "Orphanet:263553", "UMLS:C5679693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024549", "name": "Microphthalmia with coloboma 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCOPCB1"], "xref": ["GARD:0025426", "MEDGEN:337338", "OMIM:300345", "UMLS:C1845877"]}
{"category": ["biolink:Disease"], "description": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.", "id": "MONDO:0024550", "name": "Frontometaphyseal dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FLNA frontometaphyseal dysplasia", "frontometaphyseal dysplasia 1, X-linked recessive", "frontometaphyseal dysplasia caused by mutation in FLNA"], "xref": ["DOID:0111786", "GARD:0015293", "MEDGEN:923943", "OMIM:305620", "UMLS:C4281559"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.", "id": "MONDO:0024551", "name": "X-linked lymphoproliferative disease due to sh2d1a deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["X-linked lymphoproliferative disease due to SH2D1A deficiency", "lymphoproliferative syndrome, X-linked, 1, X-linked recessive"], "xref": ["GARD:0007906", "MEDGEN:1770239", "OMIM:308240", "Orphanet:538931", "UMLS:C5399825"]}
{"category": ["biolink:Disease"], "description": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.", "id": "MONDO:0024552", "name": "Linear skin defects with multiple congenital anomalies 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HCCS microphthalmia with linear skin defects syndrome", "linear skin defects with multiple congenital anomalies 1", "linear skin defects with multiple congenital anomalies 1, X-linked dominant", "microphthalmia with linear skin defects syndrome caused by mutation in HCCS"], "xref": ["DOID:0111808", "GARD:0025427", "MEDGEN:163210", "OMIM:309801", "UMLS:C0796070"]}
{"category": ["biolink:Disease"], "description": "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.", "id": "MONDO:0024553", "name": "Myopathy, lactic acidosis, and sideroblastic anemia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PUS1 myopathy, lactic acidosis, and sideroblastic anaemia", "PUS1 myopathy, lactic acidosis, and sideroblastic anemia", "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1", "myopathy, lactic acidosis, and sideroblastic anemia 1", "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1"], "xref": ["DOID:0111185", "GARD:0025428", "MEDGEN:1634824", "OMIM:600462", "UMLS:C4551958"]}
{"category": ["biolink:Disease"], "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.", "id": "MONDO:0024554", "name": "D-2-hydroxyglutaric aciduria 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["D-2-hydroxyglutaric aciduria 1", "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH", "D2HGDH D-2-hydroxyglutaric aciduria"], "xref": ["DOID:0111351", "GARD:0025429", "MEDGEN:463405", "OMIM:600721", "UMLS:C3152055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024555", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["megalencephalic leukoencephalopathy with subcortical cysts 1"], "xref": ["DOID:0080316", "GARD:0025430", "MEDGEN:1826136", "OMIM:604004", "UMLS:C5779875"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.", "id": "MONDO:0024556", "name": "Epilepsy, familial focal, with variable foci 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEPDC5 epilepsy, familial focal, with variable foci", "epilepsy, familial focal, with variable foci 1", "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5"], "xref": ["DOID:0081421", "GARD:0018202", "MEDGEN:1641798", "NCIT:C161005", "OMIM:604364", "UMLS:C4551983"]}
{"category": ["biolink:Disease"], "description": "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.", "id": "MONDO:0024557", "name": "Ataxia-telangiectasia-like disorder 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRE11 ataxia - telangiectasia-like disorder", "MRE11 ataxia-telangiectasia-like disorder", "ataxia - telangiectasia-like disorder caused by mutation in MRE11", "ataxia-telangiectasia-like disorder 1", "ataxia-telangiectasia-like disorder caused by mutation in MRE11"], "xref": ["DOID:0081384", "GARD:0017209", "MEDGEN:861227", "NCIT:C132224", "OMIM:604391", "Orphanet:251347", "UMLS:C4012790"]}
{"category": ["biolink:Disease"], "description": "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.", "id": "MONDO:0024558", "name": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11", "radioulnar synostosis with amegakaryocytic thrombocytopenia 1"], "xref": ["GARD:0018068", "MEDGEN:1637913", "OMIM:605432", "UMLS:C4551975"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024559", "name": "Aortic aneurysm, familial thoracic 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AAT1"], "xref": ["GARD:0015408", "MEDGEN:91038", "MESH:C562834", "OMIM:607086", "Orphanet:229", "UMLS:C0345050"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024560", "name": "Pda1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PDA1", "patent ductus arteriosus, susceptibility to"], "xref": ["GARD:0007342", "MEDGEN:924232", "OMIM:607411", "UMLS:C4282128"]}
{"category": ["biolink:Disease"], "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.", "id": "MONDO:0024561", "name": "Vitelliform macular dystrophy 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRPH2 vitelliform macular dystrophy", "vitelliform macular dystrophy caused by mutation in PRPH2"], "xref": ["GARD:0025431", "OMIM:608161"]}
{"category": ["biolink:Disease"], "description": "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.", "id": "MONDO:0024562", "name": "Sick sinus syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SCN5A sick sinus syndrome", "sick sinus syndrome 1", "sick sinus syndrome caused by mutation in SCN5A"], "xref": ["GARD:0025432", "MEDGEN:325270", "OMIM:608567", "UMLS:C1837845"]}
{"category": ["biolink:Disease"], "description": "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.", "id": "MONDO:0024564", "name": "Cerebroretinal microangiopathy with calcifications and cysts 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTC1 Coats plus syndrome", "Coats plus syndrome caused by mutation in CTC1", "cerebroretinal microangiopathy with calcifications and cysts 1"], "xref": ["GARD:0018441", "MEDGEN:1636142", "OMIM:612199", "UMLS:C4552029"]}
{"category": ["biolink:Disease"], "description": "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.", "id": "MONDO:0024565", "name": "Ectodermal dysplasia-syndactyly syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NECTIN4 ectodermal dysplasia-syndactyly syndrome", "ectodermal dysplasia-syndactyly syndrome 1", "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4"], "xref": ["GARD:0025433", "MEDGEN:462157", "OMIM:613573", "UMLS:C3150807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024566", "name": "Febrile seizures, familial, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["febrile seizures, familial, 11"], "xref": ["DOID:0111308", "GARD:0018283", "MEDGEN:482364", "OMIM:614418", "UMLS:C3280734"]}
{"category": ["biolink:Disease"], "description": "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.", "id": "MONDO:0024567", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN"], "xref": ["GARD:0018457", "MEDGEN:815784", "OMIM:615419", "Orphanet:700336", "UMLS:C3809454"]}
{"category": ["biolink:Disease"], "description": "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.", "id": "MONDO:0024568", "name": "Infantile liver failure syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LARS infantile liver failure", "Lars infantile liver failure", "infantile liver failure caused by mutation in LARS", "infantile liver failure caused by mutation in Lars", "infantile liver failure syndrome 1", "infantile liver failure syndrome type 1"], "xref": ["DOID:0080717", "GARD:0013114", "MEDGEN:815852", "OMIM:615438", "Orphanet:370088", "UMLS:C3809522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024569", "name": "Optic atrophy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPA8", "optic atrophy 8"], "xref": ["DOID:0111439", "GARD:0016148", "MEDGEN:898923", "OMIM:616648", "UMLS:C4085249"]}
{"category": ["biolink:Disease"], "description": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.", "id": "MONDO:0024570", "name": "Hyperparathyroidism 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["GCM2 familial isolated hyperparathyroidism", "familial isolated hyperparathyroidism caused by mutation in GCM2", "hyperparathyroidism 4", "hyperparathyroidism type 4"], "xref": ["GARD:0018256", "MEDGEN:1386327", "OMIM:617343", "UMLS:C4479229"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.", "id": "MONDO:0024571", "name": "Aids-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["AIDS-related complications", "AIDS-related disorder", "AIDS/HIV - relatedDisease associated with AIDS", "disease associated with AIDS"], "xref": ["EFO:0009528", "MEDGEN:852920", "NCIT:C4991", "UMLS:C0877121"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.", "id": "MONDO:0024572", "name": "Immunodeficiency-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Immunodepression-related disorder", "Immunosuppression disorders", "Immunosuppression-related disorder", "immunodeficiency-related disorder"], "xref": ["MEDGEN:232641", "NCIT:C35686", "UMLS:C1334159"]}
{"category": ["biolink:Disease"], "description": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.", "id": "MONDO:0024573", "name": "Familial hypertrophic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["cardiomyopathy, familial hypertrophic", "familial hypertrophic cardiomyopathy", "familila or idiopathic hypertrophic obstructive cardiomyopathy", "hereditary hypertrophic cardiomyopathy", "hypertrophic familial cardiomyopathy"], "xref": ["DOID:0080326", "MEDGEN:183649", "MESH:D024741", "NCIT:C84773", "OMIMPS:192600", "Orphanet:155", "SCTID:471885006", "UMLS:C0949658", "icd11.foundation:1408928442"]}
{"category": ["biolink:Disease"], "description": "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.", "id": "MONDO:0024574", "name": "Von Willebrand disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["VWD", "Von Willebrand Disease", "von Willebrand disorder", "von Willebrand's disease"], "xref": ["GARD:0025434", "ICD10CM:D68.0", "ICD9:286.4", "MEDGEN:22686", "MESH:D014842", "NANDO:2200682", "NCIT:C68677", "SCTID:128105004", "UMLS:C0042974"]}
{"category": ["biolink:Disease"], "description": "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.", "id": "MONDO:0024575", "name": "Pregnancy disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["complication of pregnancy or childbirth", "disorder of pregnancy", "disorder of pregnancy, childbirth, or puerperium", "pregnancy disease", "pregnancy disorder"], "xref": ["EFO:0009682", "MEDGEN:56248", "MESH:D011248", "NCIT:C35169", "SCTID:173300003", "UMLS:C0151864"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.", "id": "MONDO:0024582", "name": "Male reproductive system neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Male reproductive system neoplasm", "Male reproductive system tumor", "Male reproductive system tumour", "male reproductive organ neoplasm", "male reproductive organ tumor", "male reproductive organ tumour", "neoplasm of Male reproductive system", "neoplasm of male reproductive organ", "neoplasm of the Male reproductive system", "tumor of Male reproductive system", "tumor of male reproductive organ", "tumor of the Male reproductive system", "tumour of Male reproductive system", "tumour of male reproductive organ", "tumour of the Male reproductive system"], "xref": ["ICD9:239.5", "MEDGEN:42196", "NCIT:C3054", "SCTID:126895004", "UMLS:C0017417"]}
{"category": ["biolink:Disease"], "description": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.", "id": "MONDO:0024607", "name": "Congenital muscular dystrophy with cataracts and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080197", "GARD:0025435", "MEDGEN:1382291", "OMIM:617404", "Orphanet:662184", "UMLS:C4479410"]}
{"category": ["biolink:Disease"], "description": "Gastrointestinal infection with organisms of the genus dientamoeba.", "id": "MONDO:0024608", "name": "Dientamoebiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Dientamoeba caused disease or disorder", "Dientamoeba disease or disorder", "Dientamoeba infectious disease"], "xref": ["DOID:946", "MEDGEN:41551", "MESH:D004030", "SCTID:67915005", "UMLS:C0012147"]}
{"category": ["biolink:Disease"], "description": "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)", "id": "MONDO:0024609", "name": "Vulvar squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of the vulva", "epidermoid carcinoma of vulva", "epidermoid cell carcinoma of the vulva", "epidermoid cell carcinoma of vulva", "mammalian vulva squamous cell carcinoma", "squamous cell carcinoma of the vulva", "squamous cell carcinoma of vulva", "vulva epidermoid carcinoma", "vulva epidermoid cell carcinoma", "vulva squamous cell carcinoma", "vulvar epidermoid carcinoma", "vulvar epidermoid cell carcinoma", "vulvar squamous cell cancer", "vulvar squamous cell carcinoma"], "xref": ["DOID:2101", "EFO:1000624", "GARD:0022005", "MEDGEN:79201", "NCIT:C4052", "Orphanet:494448", "SCTID:254895003", "UMLS:C0280856", "icd11.foundation:146824338"]}
{"category": ["biolink:Disease"], "description": "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.", "id": "MONDO:0024610", "name": "Parasitic skin disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["parasitic skin disease"], "xref": ["MEDGEN:20780", "MESH:D012876", "UMLS:C0037280"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the orbit.", "id": "MONDO:0024611", "name": "Orbit neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of orbit", "neoplasm of orbit of skull", "neoplasm of the orbit", "orbit neoplasm", "orbit of skull neoplasm", "orbit of skull tumor", "orbit of skull tumour", "orbit tumor", "orbit tumour", "orbital neoplasm", "orbital neoplasms", "orbital tumor", "orbital tumour", "tumor of orbit", "tumor of orbit of skull", "tumor of the orbit", "tumour of orbit", "tumour of orbit of skull", "tumour of the orbit"], "xref": ["GARD:0025436", "MEDGEN:18190", "NCIT:C3290", "UMLS:C0029185"]}
{"category": ["biolink:Disease"], "description": "The manic phase of bipolar disorder.", "id": "MONDO:0024612", "name": "Manic bipolar affective disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bipolar affective disorder, current episode manic", "manic bipolar affective disorder"], "xref": ["MEDGEN:7460", "NCIT:C34805", "SCTID:191618007", "UMLS:C0024713"]}
{"category": ["biolink:Disease"], "description": "The depressive stage of bipolar disorder.", "id": "MONDO:0024613", "name": "Bipolar depression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bipolar affective disorder, current episode depression", "bipolar depression"], "xref": ["MEDGEN:585", "NCIT:C34424", "SCTID:191627008", "UMLS:C0005587"]}
{"category": ["biolink:Disease"], "description": "A term used for any state of depression that is not psychotic.", "id": "MONDO:0024614", "name": "Neurotic depression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurotic depression"], "xref": ["MEDGEN:76370", "NCIT:C35369", "UMLS:C0282126"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024615", "name": "T-cell and nk-cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["T-cell and NK-cell neoplasm", "T-cell neoplasm"], "xref": ["GARD:0009622", "MEDGEN:277781", "NCIT:C27908", "UMLS:C1336554"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.", "id": "MONDO:0024616", "name": "Tympanitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of tympanic membrane", "myringitis", "tympanic membrane inflammation"], "xref": ["MEDGEN:507971", "SCTID:14852000", "UMLS:C0027134", "icd11.foundation:225078522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024617", "name": "Xanthogranuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["xanthogranuloma"], "xref": ["GARD:0025437", "MEDGEN:1717859", "NCIT:C27302", "SCTID:189099001", "UMLS:C5234857"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Enterovirus C.", "id": "MONDO:0024618", "name": "Poliovirus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Enterovirus C caused disease or disorder", "Enterovirus C disease or disorder", "Enterovirus C infectious disease", "human poliovirus infection", "infection caused by human poliovirus"], "xref": ["MEDGEN:928804", "SCTID:721764008", "UMLS:C4303135"]}
{"category": ["biolink:Disease"], "description": "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.", "id": "MONDO:0024619", "name": "Central nervous system infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["central nervous system infectious disease", "central nervous system infectious disorder", "infectious disease of central nervous system"], "xref": ["EFO:1001456", "GARD:0025438", "ICD9:349.89", "MEDGEN:1684837", "MESH:D002494", "NCIT:C27582", "SCTID:128117002", "UMLS:C4759823"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024620", "name": "Meningitis caused by poliovirus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningitis caused by human poliovirus"], "xref": ["GARD:0025439", "MEDGEN:928803", "SCTID:721765009", "UMLS:C4303134"]}
{"category": ["biolink:Disease"], "description": "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.", "id": "MONDO:0024621", "name": "Serous cystadenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["serous cystadenocarcinoma"], "xref": ["ICDO:8441/3", "MEDGEN:60212", "NCIT:C3778", "UMLS:C0206701"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).", "id": "MONDO:0024622", "name": "Thyroid gland adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["thyroid adenocarcinoma", "thyroid gland adenocarcinoma"], "xref": ["DOID:0080524", "GARD:0025440", "MEDGEN:309935", "NCIT:C27380", "UMLS:C1704228"]}
{"category": ["biolink:Disease"], "description": "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.", "id": "MONDO:0024623", "name": "Otorhinolaryngologic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "synonym": ["ear, nose and throat disorder", "ear, nose or throat disorder", "ear/nose/throat disease", "otolaryngologic disorder", "otorhinolaryngologic disease"], "xref": ["ICD9:478.19", "MEDGEN:583054", "MESH:D010038", "NANDO:1100015", "NCIT:C118420", "SCTID:232208008", "UMLS:C0395797"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the lacrimal gland.", "id": "MONDO:0024625", "name": "Disorder of lacrimal gland", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of lacrimal gland", "disease or disorder of lacrimal gland", "disorder of lacrimal gland", "lacrimal gland disease", "lacrimal gland disease or disorder"], "xref": ["MEDGEN:536365", "SCTID:95766002", "UMLS:C0235228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024626", "name": "Defective phagocytic cell engulfment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["defective phagocytic cell killing"], "xref": ["MEDGEN:585050", "SCTID:234585008", "UMLS:C0398742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024627", "name": "Phagocytic cell dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["defective phagocytosis", "phagocytic cell dysfunction"], "xref": ["MEDGEN:585044", "SCTID:302874002", "UMLS:C0398732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024630", "name": "Defective phagocytic cell chemotaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["defective phagocytic cell chemotaxis"], "xref": ["ICD9:279.8", "MEDGEN:585047", "SCTID:234580003", "UMLS:C0398735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024632", "name": "Defective phagocytic cell opsonization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["defective phagocytic cell opsonization"], "xref": ["MEDGEN:585045", "SCTID:234578009", "UMLS:C0398733"]}
{"category": ["biolink:Disease"], "description": "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.", "id": "MONDO:0024633", "name": "Hypertensive nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["HNP1", "hypertensive nephropathy", "hypertensive renal disease"], "xref": ["ICD9:403.90", "MEDGEN:167258", "MESH:C563161", "NCIT:C4757", "OMIM:608026", "SCTID:38481006", "UMLS:C0848548"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the large intestine.", "id": "MONDO:0024634", "name": "Large intestine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of large intestine", "disease or disorder of large intestine", "disorder of large intestine", "large intestine disease or disorder"], "xref": ["MEDGEN:574315", "SCTID:119523007", "UMLS:C0341321"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the small intestine.", "id": "MONDO:0024635", "name": "Small intestine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of small intestine", "disease or disorder of small intestine", "disorder of small intestine", "small intestine disease or disorder"], "xref": ["MEDGEN:574283", "SCTID:119522002", "UMLS:C0341268"]}
{"category": ["biolink:Disease"], "description": "An inflammatory disease involving a pathogenic inflammatory response in the heart layer.", "id": "MONDO:0024636", "name": "Inflammation of heart layer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carditis", "heart layer inflammation"], "xref": ["ICD9:429.89", "MEDGEN:163689", "SCTID:399617002", "UMLS:C0869523"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising exclusively from the soft tissues.", "id": "MONDO:0024637", "name": "Malignant soft tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant neoplasm of soft tissue", "malignant neoplasm of the soft tissue", "malignant soft tissue neoplasm", "malignant soft tissue tumor", "malignant soft tissue tumour", "malignant tumor of soft tissue", "malignant tumor of the soft tissue", "malignant tumour of soft tissue", "malignant tumour of the soft tissue"], "xref": ["GARD:0027918", "MEDGEN:1632429", "NCIT:C4867", "SCTID:269469005", "UMLS:C4551686"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.", "id": "MONDO:0024638", "name": "Pancreatic gastrinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pancreatic gastrinoma"], "xref": ["GARD:0025441", "MEDGEN:1849954", "NCIT:C95596", "UMLS:C5848106"]}
{"category": ["biolink:Disease"], "description": "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.", "id": "MONDO:0024639", "name": "Gastric enterochromaffin cell serotonin-producing neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric EC cell serotonin-producing NET", "gastric EC-cell serotonin-producing neuroendocrine tumor", "gastric EC-cell serotonin-producing neuroendocrine tumour", "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor"], "xref": ["GARD:0025442", "MEDGEN:475770", "NCIT:C27443", "UMLS:C3274137"]}
{"category": ["biolink:Disease"], "description": "A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.", "id": "MONDO:0024642", "name": "Gastric neuroendocrine tumor g2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gastric NET G2", "gastric neuroendocrine tumor G2"], "xref": ["GARD:0025443", "MEDGEN:474040", "NCIT:C95880", "UMLS:C3272407"]}
{"category": ["biolink:Disease"], "description": "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.", "id": "MONDO:0024643", "name": "Myocardial disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of myocardium", "disease or disorder of myocardium", "disorder of myocardium", "myocardial disease", "myocardial disorder", "myocardium disease", "myocardium disease or disorder"], "xref": ["MEDGEN:469033", "NCIT:C35544", "SCTID:57809008", "UMLS:C3241958"]}
{"category": ["biolink:Disease"], "description": "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).", "id": "MONDO:0024644", "name": "Myocardial ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IHD", "ischaemic disease of myocardium", "ischaemic heart disease", "ischemic disease of myocardium", "ischemic heart disease", "myocardium ischaemic disease", "myocardium ischemic disease"], "xref": ["EFO:1001375", "ICD10CM:I20-I25", "MEDGEN:101801", "MESH:D017202", "NANDO:2100070", "NCIT:C50625", "SCTID:414545008", "UMLS:C0151744", "icd11.foundation:1964269418"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the retroperitoneum.", "id": "MONDO:0024645", "name": "Retroperitoneal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of retroperitoneal space", "retroperitoneal neoplasm", "retroperitoneal space neoplasm", "retroperitoneal space tumor", "retroperitoneal space tumour", "tumor of retroperitoneal space", "tumour of retroperitoneal space"], "xref": ["MEDGEN:48439", "NCIT:C3357", "UMLS:C0035358"]}
{"category": ["biolink:Disease"], "description": "Stone(s) within the urinary tract.", "id": "MONDO:0024647", "name": "Urolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["calculus", "urinary stones", "urolithiasis"], "xref": ["DOID:0080653", "ICD10CM:N20-N23", "ICD10CM:N21", "ICD10WHO:N20-N23", "MEDGEN:141536", "MESH:D052878", "NCIT:C114688", "SCTID:95566004", "UMLS:C0451641", "icd11.foundation:1746821938"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the visual pathway.", "id": "MONDO:0024648", "name": "Optic tract meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningioma (disease) of optic tract", "meningioma of optic tract", "meningioma of the optic tract", "meningioma of the visual pathway", "meningioma of visual pathway", "optic tract meningioma", "optic tract meningioma (disease)", "visual pathway meningioma"], "xref": ["GARD:0025444", "MEDGEN:234991", "NCIT:C5587", "UMLS:C1336972"]}
{"category": ["biolink:Disease"], "description": "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.", "id": "MONDO:0024649", "name": "Optic tract astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["astrocytoma (excluding glioblastoma) of optic tract", "optic tract astrocytoma", "optic tract astrocytoma (excluding glioblastoma)", "visual pathway astrocytoma"], "xref": ["GARD:0025445", "MEDGEN:237052", "NCIT:C7533", "UMLS:C1336971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024650", "name": "Drug-induced osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["drug-induced osteoporosis"], "xref": ["GARD:0025446", "ICD9:733.09", "MEDGEN:538336", "SCTID:14651005", "UMLS:C0264115", "icd11.foundation:691296096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024651", "name": "Corticosteroid-induced osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["osteoporosis due to corticosteroid"], "xref": ["GARD:0025447", "ICD9:733.09", "MEDGEN:695753", "SCTID:390833005", "UMLS:C1272167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024652", "name": "Embryonic cyst of fallopian tube", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["embryonic cyst of fallopian tube"], "xref": ["ICD10CM:Q50.4", "MEDGEN:609068", "SCTID:302954008", "UMLS:C0431631", "icd11.foundation:440178290"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the bones and structures of the skull.", "id": "MONDO:0024653", "name": "Skull neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of skull", "neoplasm of the skull", "skull neoplasm", "skull tumor", "skull tumour", "tumor of skull", "tumor of the skull", "tumour of skull", "tumour of the skull"], "xref": ["GARD:0025448", "ICD9:239.2", "MEDGEN:11457", "MESH:D012888", "NCIT:C3375", "SCTID:126538005", "UMLS:C0037305"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder that affects structures of the skull.", "id": "MONDO:0024654", "name": "Skull disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of skull", "disease or disorder of skull", "disorder of skull", "skull disease", "skull disease or disorder", "skull disorder"], "xref": ["MEDGEN:226937", "NCIT:C27655", "SCTID:118945008", "UMLS:C1290854"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024655", "name": "Rheumatic pericarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rheumatic pericarditis"], "xref": ["MEDGEN:538808", "SCTID:28381002", "UMLS:C0264747"]}
{"category": ["biolink:Disease"], "description": "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.", "id": "MONDO:0024656", "name": "Colorectal lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["colorectal lymphoma", "large intestinal lymphoma", "large intestine lymphoma", "lymphoma of large intestine", "primary colorectal lymphoma"], "xref": ["GARD:0025449", "MEDGEN:474455", "NCIT:C96498", "UMLS:C3272822"]}
{"category": ["biolink:Disease"], "description": "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.", "id": "MONDO:0024658", "name": "Extrahepatic bile duct sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extrahepatic bile duct sarcoma", "sarcoma of extrahepatic bile duct", "sarcoma of the extrahepatic bile duct"], "xref": ["GARD:0025450", "MEDGEN:473546", "NCIT:C5029", "UMLS:C2205442"]}
{"category": ["biolink:Disease"], "description": "A Kaposi sarcoma that arises from the colon or rectum.", "id": "MONDO:0024659", "name": "Colorectal kaposi sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Kaposi's sarcoma (disease) of large intestine", "colorectal Kaposi sarcoma", "large intestinal Kaposi sarcoma", "large intestine Kaposi's sarcoma (disease)"], "xref": ["GARD:0025451", "MEDGEN:474466", "NCIT:C96510", "UMLS:C3272833"]}
{"category": ["biolink:Disease"], "description": "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.", "id": "MONDO:0024660", "name": "Tubular adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adenoma, tubular cell, benign", "tubular adenoma"], "xref": ["ICDO:8211/0", "MEDGEN:83123", "NCIT:C4133", "SCTID:444408007", "UMLS:C0334292"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.", "id": "MONDO:0024661", "name": "Tubulovillous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["tubulovillous adenoma"], "xref": ["ICDO:8263/0", "MEDGEN:83125", "NCIT:C4143", "UMLS:C0334307"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.", "id": "MONDO:0024662", "name": "Colorectal tubulovillous adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["colorectal tubulovillous adenoma", "large bowel tubulovillous adenoma", "tubulovillous adenoma of large bowel", "tubulovillous adenoma of the large bowel"], "xref": ["MEDGEN:234165", "NCIT:C5675", "UMLS:C1333118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024663", "name": "Primary skin meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["primary cutaneous meningioma", "primary meningioma of skin", "primary meningioma of the skin", "primary skin meningioma"], "xref": ["GARD:0025452", "MEDGEN:235494", "NCIT:C5277", "UMLS:C1335481"]}
{"category": ["biolink:Disease"], "description": "A hypertensive disorder that develops during pregnancy.", "id": "MONDO:0024664", "name": "Hypertension, pregnancy-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypertension associated disorders of pregnancy", "hypertension-associated pregnancy disorder", "pregnancy-induced hypertension"], "xref": ["MEDGEN:852894", "MESH:D046110", "NCIT:C9243", "SCTID:48194001", "UMLS:C0852036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024665", "name": "Indeterminate sex and/or pseudohermaphroditism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:Q56", "ICD9:752.7", "MEDGEN:712820", "SCTID:268229003", "UMLS:C1290455"]}
{"category": ["biolink:Disease"], "description": "A form of epithelial skin neoplasm without malignant characteristics.", "id": "MONDO:0024666", "name": "Benign epithelial skin neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["benign epithelial skin neoplasm", "benign epithelial skin tumor", "benign epithelial skin tumour", "benign skin epithelium neoplasm", "benign skin epithelium tumor", "benign skin epithelium tumour", "epithelial skin neoplasm, benign"], "xref": ["MEDGEN:83395", "NCIT:C7341", "UMLS:C0345981"]}
{"category": ["biolink:Disease"], "description": "A lymphangioma arising from the skin.", "id": "MONDO:0024673", "name": "Skin lymphangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cutaneous lymphangioma", "skin lymphangioma"], "xref": ["GARD:0025454", "MEDGEN:232399", "NCIT:C27509", "UMLS:C1333176"]}
{"category": ["biolink:Disease"], "description": "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.", "id": "MONDO:0024674", "name": "Pancoast syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Pancoast syndrome", "Pancoast's syndrome"], "xref": ["GARD:0025455", "MEDGEN:10553", "MESH:D010178", "NCIT:C55815", "SCTID:278065000", "UMLS:C0030271"]}
{"category": ["biolink:Disease"], "description": "Wilms tumor of the kidney which occurs in adults.", "id": "MONDO:0024675", "name": "Adult kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosarcoma of adult kidney", "adenosarcoma of the adult kidney", "adult kidney Wilms tumor", "adult kidney adenosarcoma", "adult nephroblastoma", "adult renal Wilms tumor", "adult renal Wilms tumour", "adult renal Wilms' tumor", "adult renal Wilms' tumour", "adult renal adenosarcoma", "kidney Wilms tumor of adults", "kidney Wilms tumour of adults"], "xref": ["GARD:0025456", "MEDGEN:231045", "NCIT:C6180", "UMLS:C1332219"]}
{"category": ["biolink:Disease"], "description": "A Wilms tumor of the kidney which occurs in children.", "id": "MONDO:0024676", "name": "Childhood kidney wilms tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood Wilms tumor", "childhood Wilms tumour", "childhood kidney Wilms tumor", "childhood renal Wilms tumor", "childhood renal Wilms tumour", "childhood renal Wilms' tumor", "childhood renal Wilms' tumour"], "xref": ["GARD:0025457", "MEDGEN:232073", "NCIT:C27730", "UMLS:C1333015"]}
{"category": ["biolink:Disease"], "description": "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.", "id": "MONDO:0024677", "name": "Pancreatic insulinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["insulinoma", "pancreatic insulinoma"], "xref": ["DOID:3892", "GARD:0025458", "HP:0012197", "MEDGEN:43907", "MESH:D007340", "MedDRA:10022498", "NANDO:2200398", "NCIT:C95598", "SCTID:302822000", "UMLS:C0021670", "icd11.foundation:193813168"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024685", "name": "Philadelphia-positive myelogenous leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Ph1-positive granulocytic leukaemia", "Ph1-positive granulocytic leukemia", "Ph1-positive myelocytic leukaemia", "Ph1-positive myelocytic leukemia", "Ph1-positive myelogenous leukaemia", "Ph1-positive myelogenous leukemia", "Ph1-positive myeloid leukaemia", "Ph1-positive myeloid leukemia", "Philadelphia-positive granulocytic leukaemia", "Philadelphia-positive granulocytic leukemia", "Philadelphia-positive myelocytic leukaemia", "Philadelphia-positive myelocytic leukemia", "Philadelphia-positive myelogenous leukemia", "Philadelphia-positive myeloid leukaemia", "Philadelphia-positive myeloid leukemia"], "xref": ["GARD:0025459", "MEDGEN:9731", "NCIT:C3177", "UMLS:C0023476"]}
{"category": ["biolink:Disease"], "description": "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.", "id": "MONDO:0024686", "name": "Tenosynovial giant cell tumor, diffuse type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TGCT", "TSGCT", "diffuse giant cell neoplasm of Tenosynovium", "diffuse giant cell neoplasm of tendon sheath", "diffuse giant cell neoplasm of the Tenosynovium", "diffuse giant cell tumor of Tenosynovium", "diffuse giant cell tumor of tendon sheath", "diffuse giant cell tumor of the Tenosynovium", "diffuse giant cell tumour of Tenosynovium", "diffuse giant cell tumour of tendon sheath", "diffuse giant cell tumour of the Tenosynovium", "diffuse tenosynovial giant cell neoplasm", "diffuse tenosynovial giant cell tumor", "diffuse tenosynovial giant cell tumour", "pigmented villonodular synovitis", "tenosynovial giant cell tumor, diffuse type"], "xref": ["DOID:2702", "DOID:9898", "GARD:0007396", "ICD10CM:M12.2", "ICD9:719.2", "ICD9:719.20", "ICD9:719.28", "ICDO:9251/0", "MEDGEN:11691", "MESH:D013586", "NCIT:C3401", "NORD:1916", "ONCOTREE:TGCT", "Orphanet:66627", "SCTID:95412009", "UMLS:C0039106"]}
{"category": ["biolink:Disease"], "description": "A mixed epithelial stromal tumor of the kidney with malignant stromal features.", "id": "MONDO:0024711", "name": "Malignant mixed epithelial stromal tumor of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant MEST", "malignant mixed epithelial stromal tumor of the kidney", "mixed epithelial stromal tumor of the kidney, malignant", "mixed epithelial stromal tumour of the kidney, malignant"], "xref": ["MEDGEN:233156", "NCIT:C37265", "UMLS:C1334602"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.", "id": "MONDO:0024715", "name": "Benign synovial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of synovium", "benign neoplasm of the synovium", "benign synovial neoplasm", "benign synovial tumor", "benign synovial tumour", "benign synovioma", "benign synovium neoplasm", "benign tumor of synovium", "benign tumor of the synovium", "benign tumour of synovium", "benign tumour of the synovium", "synovioma, benign", "synovium neoplasm, benign"], "xref": ["ICDO:9040/0", "MEDGEN:113161", "NCIT:C3829", "UMLS:C0221289"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.", "id": "MONDO:0024744", "name": "Childhood choroid plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood choroid plexus neoplasm", "choroid plexus neoplasm of childhood", "paediatric choroid plexus neoplasm", "pediatric choroid plexus neoplasm"], "xref": ["GARD:0025460", "MEDGEN:76132", "NCIT:C42080", "UMLS:C0280623"]}
{"category": ["biolink:Disease"], "description": "A teratoma composed of immature, fetal-type tissues.", "id": "MONDO:0024746", "name": "Immature teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["embryonal teratoma", "hrade 2 Teratoma", "immature teratoma"], "xref": ["GARD:0025461", "ICDO:9080/3", "MEDGEN:90798", "NANDO:2200106", "NCIT:C4286", "UMLS:C0334520"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.", "id": "MONDO:0024757", "name": "Cardiovascular neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cardiovascular neoplasm", "cardiovascular system neoplasm", "cardiovascular system tumor", "cardiovascular system tumour", "cardiovascular tumor", "cardiovascular tumour", "neoplasm of cardiovascular system", "tumor of cardiovascular system", "tumour of cardiovascular system"], "xref": ["MEDGEN:105422", "NCIT:C4784", "SCTID:721573003", "UMLS:C0497243"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024770", "name": "Autoinflammatory syndrome, familial, x-linked, behcet-like 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AIFBL2", "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "deficiency 1n ELF4, X-linked"], "xref": ["GARD:0025462", "MEDGEN:1808082", "OMIM:301074", "Orphanet:676125", "UMLS:C5575495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024771", "name": "Myopathy, distal, 7, adult-onset, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MPD7", "myopathy, distal, 7, adult-onset, X-linked"], "xref": ["GARD:0025463", "MEDGEN:1808663", "OMIM:301075", "Orphanet:700163", "UMLS:C5676880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024772", "name": "Intellectual developmental disorder, x-linked, syndromic, pilorge type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRXSP", "intellectual developmental disorder, X-linked, syndromic, Pilorge type"], "xref": ["DOID:0070422", "GARD:0025464", "MEDGEN:1803486", "OMIM:301076", "UMLS:C5676881"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024773", "name": "Spermatogenic failure, x-linked, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGFX4", "spermatogenic failure, X-linked, 4"], "xref": ["DOID:0070595", "MEDGEN:1804024", "OMIM:301077", "UMLS:C5676882"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.", "id": "MONDO:0024777", "name": "Immunodeficiency 98 with autoinflammation, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD98", "X-linked immunodeficiency with autoinflammation", "immunodeficiency 98 with autoinflammation, X-linked", "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8"], "xref": ["DOID:0061068", "GARD:0027130", "MEDGEN:1805285", "OMIM:301078", "Orphanet:675628", "UMLS:C5676883"]}
{"category": ["biolink:Disease"], "description": "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.", "id": "MONDO:0024781", "name": "Immunodeficiency 102", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD102", "SASH3 deficiency", "X-linked CID due to SASH3 deficiency", "X-linked combined immunodeficiency due to SASH3 deficiency", "immunodeficiency 102"], "xref": ["DOID:0061072", "GARD:0026075", "MEDGEN:1812534", "OMIM:301082", "Orphanet:653751", "UMLS:C5676886"]}
{"category": ["biolink:Disease"], "description": "A brainstem neoplasm that occurs in an adult.", "id": "MONDO:0024797", "name": "Adult brain stem neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adult brain stem neoplasm", "adult brain stem tumor", "adult brain stem tumour", "adult brainstem neoplasm", "adult brainstem tumor", "adult brainstem tumour", "brainstem neoplasm of adults", "neoplasm of adult brain stem", "neoplasm of adult brainstem", "neoplasm of the adult brain stem", "neoplasm of the adult brainstem", "tumor of adult brain stem", "tumor of adult brainstem", "tumor of the adult brain stem", "tumor of the adult brainstem", "tumour of adult brain stem", "tumour of adult brainstem", "tumour of the adult brain stem", "tumour of the adult brainstem"], "xref": ["MEDGEN:272292", "NCIT:C5967", "UMLS:C1332192"]}
{"category": ["biolink:Disease"], "description": "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.", "id": "MONDO:0024813", "name": "Pulmonary sulcus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonary sulcus neoplasm", "pulmonary sulcus tumor", "pulmonary sulcus tumour"], "xref": ["MEDGEN:277550", "NCIT:C27710", "UMLS:C1335574"]}
{"category": ["biolink:Disease"], "description": "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.", "id": "MONDO:0024857", "name": "Immature extragonadal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["extragonadal primary malignant teratoma", "immature extragonadal teratoma", "malignant extragonadal teratoma", "primary malignant extragonadal teratoma"], "xref": ["GARD:0025465", "MEDGEN:167781", "NCIT:C8884", "UMLS:C0855163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024861", "name": "Mixed teratoma and seminoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mixed teratoma and seminoma"], "xref": ["GARD:0025466", "MEDGEN:1844722", "NCIT:C9010", "UMLS:C5848073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024863", "name": "Small size posterior uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["small size posterior uveal melanoma"], "xref": ["GARD:0025467", "MEDGEN:75883", "NCIT:C9089", "UMLS:C0278867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024864", "name": "Medium/large size posterior uveal melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["medium/large size posterior uveal melanoma"], "xref": ["GARD:0025468", "MEDGEN:124525", "NCIT:C9090", "UMLS:C0278868"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.", "id": "MONDO:0024868", "name": "Metastatic carcinoma in the adrenal medulla", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["metastatic carcinoma in the adrenal medulla", "metastatic carcinoma to the adrenal medulla"], "xref": ["GARD:0025469", "MEDGEN:277362", "NCIT:C9276", "UMLS:C1334717"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the clitoris.", "id": "MONDO:0024873", "name": "Clitoral carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoma of clitoris", "carcinoma of the clitoris", "clitoral carcinoma", "clitoris carcinoma"], "xref": ["GARD:0025470", "MEDGEN:234155", "NCIT:C9362", "UMLS:C1333070"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the tendon sheath.", "id": "MONDO:0024876", "name": "Tendon sheath disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of tendon sheath", "disease or disorder of tendon sheath", "disorder of tendon sheath", "tendon sheath disease", "tendon sheath disease or disorder", "tendon sheath disorder"], "xref": ["ICD9:727.9", "MEDGEN:675994", "SCTID:312381009", "UMLS:C0729734"]}
{"category": ["biolink:Disease"], "description": "A neoplasm involving a clitoris.", "id": "MONDO:0024877", "name": "Clitoris neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["clitoral neoplasm", "clitoris tumor", "clitoris tumour", "neoplasm of clitoris", "tumor of clitoris", "tumour of clitoris"], "xref": ["ICD9:239.5", "MEDGEN:688068", "SCTID:126925009", "UMLS:C1263793"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.", "id": "MONDO:0024878", "name": "Secondary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["secondary carcinoma"], "xref": ["MEDGEN:88450", "NCIT:C36310", "UMLS:C0085668"]}
{"category": ["biolink:Disease"], "description": "A carcinoma which has spread from the original site of growth to another anatomic site.", "id": "MONDO:0024879", "name": "Metastatic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metastatic carcinoma"], "xref": ["ICDO:8010/6", "MEDGEN:235141", "NCIT:C3482", "UMLS:C1384494", "icd11.foundation:553023050"]}
{"category": ["biolink:Disease"], "description": "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.", "id": "MONDO:0024880", "name": "Metastatic malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant metastatic neoplasm", "metastatic cancer", "metastatic malignant neoplasm", "metastatic neoplasm, malignant"], "xref": ["MEDGEN:422475", "NCIT:C36263", "UMLS:C2939419", "icd11.foundation:1399468320"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.", "id": "MONDO:0024881", "name": "Secondary malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["secondary cancer", "secondary malignancy", "secondary malignant neoplasm"], "xref": ["EFO:0009812", "ICD9:198.89", "ICD9:199.1", "MEDGEN:473807", "NCIT:C4968", "SCTID:128462008", "UMLS:C3266877"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.", "id": "MONDO:0024882", "name": "Secondary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["secondary neoplasm", "secondary tumor", "secondary tumour"], "xref": ["MEDGEN:1851572", "NCIT:C36255", "UMLS:C5848363"]}
{"category": ["biolink:Disease"], "description": "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.", "id": "MONDO:0024883", "name": "Metastatic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metastatic disease", "metastatic neoplasm", "metastatic tumor", "metastatic tumour"], "xref": ["EFO:0009709", "ICDO:8000/6", "MEDGEN:422476", "NCIT:C3261", "UMLS:C2939420"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.", "id": "MONDO:0024884", "name": "Metastatic carcinoma in the bone", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["metastatic carcinoma in the bone", "metastatic carcinoma to the bone"], "xref": ["GARD:0025471", "MEDGEN:195970", "NCIT:C36082", "UMLS:C0700110"]}
{"category": ["biolink:Disease"], "description": "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.", "id": "MONDO:0024885", "name": "Malignant ovarian serous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["malignant ovarian serous tumor", "ovarian serous tumor, malignant"], "xref": ["GARD:0025472", "MEDGEN:309396", "NCIT:C40025", "UMLS:C1518234"]}
{"category": ["biolink:Disease"], "description": "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.", "id": "MONDO:0024886", "name": "Serous adenofibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["serous adenofibroma"], "xref": ["ICDO:9014/0", "MEDGEN:87253", "NCIT:C67090", "UMLS:C0334498"]}
{"category": ["biolink:Disease"], "description": "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.", "id": "MONDO:0024888", "name": "Mesonephric neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Wolffian duct neoplasm", "Wolffian duct tumor", "Wolffian duct tumour", "mesonephric duct neoplasm", "mesonephric duct tumor", "mesonephric duct tumour", "mesonephric neoplasm", "mesonephric tumor", "mesonephric tumour", "mesonephroma", "neoplasm of mesonephric duct", "tumor of mesonephric duct", "tumour of mesonephric duct"], "xref": ["ICDO:9110/1", "MEDGEN:137779", "NCIT:C4295", "UMLS:C0334531"]}
{"category": ["biolink:Disease"], "description": "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.", "id": "MONDO:0024889", "name": "Benign mesonephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mesonephroma, benign (morphologic abnormality)", "benign mesonephric neoplasm", "mesonephric duct adenoma", "mesonephric neoplasm, benign"], "xref": ["DOID:2616", "ICDO:9110/0", "MEDGEN:87259", "NCIT:C4294", "UMLS:C0334530"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)", "id": "MONDO:0024890", "name": "Pineal parenchymal cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neoplasm of pineal gland", "neoplasm of the pineal gland", "pineal gland neoplasm", "pineal gland tumor", "pineal gland tumour", "pineal parenchymal cell neoplasm", "pineal parenchymal cell tumor", "pineal parenchymal cell tumour", "pineal parenchymal neoplasm", "pineal parenchymal tumor", "pineal parenchymal tumour", "pineocytic neoplasm", "pineocytic tumor", "pineocytic tumour", "tumor of pineal gland", "tumor of the pineal gland", "tumour of pineal gland", "tumour of the pineal gland"], "xref": ["ICDO:9360/1", "NCIT:C6965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024891", "name": "Non-infectious meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-infective meningitis"], "xref": ["SCTID:230155003"]}
{"category": ["biolink:Disease"], "description": "A soft tissue neoplasm composed of acellular amyloid material.", "id": "MONDO:0024892", "name": "Soft tissue amyloid neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["amyloid tumor (morphologic abnormality)", "amyloid tumour (morphologic abnormality)", "soft tissue amyloid neoplasm", "soft tissue amyloid tumor", "soft tissue amyloid tumour"], "xref": ["DOID:6755", "GARD:0025473", "NCIT:C8323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024893", "name": "Toxocara canis infection (canine roundworms)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025474", "MEDGEN:419650", "MESH:C531834", "UMLS:C2930846"]}
{"category": ["biolink:Disease"], "description": "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.", "id": "MONDO:0024954", "name": "Larva migrans, visceral", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025475", "MEDGEN:9681", "MESH:D007816", "UMLS:C0023049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0024971", "medic_stub": true, "name": "parturient paresis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.", "id": "MONDO:0024988", "name": "Sex cord-stromal benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080368"]}
{"category": ["biolink:Disease"], "description": "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.", "id": "MONDO:0025193", "name": "Oculopharyngodistal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_inheritance_inconsistent", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["OPDM", "oculopharyngeal distal myopathy", "oculopharyngodistal myopathy"], "xref": ["DOID:0081296", "GARD:0012592", "MEDGEN:320250", "MESH:C563508", "NANDO:1200219", "OMIMPS:164310", "Orphanet:98897", "SCTID:763829004", "UMLS:C1834014", "icd11.foundation:1493269618"]}
{"category": ["biolink:Disease"], "description": "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.", "id": "MONDO:0025294", "name": "Tick-borne infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:56488", "MESH:D017282", "UMLS:C0162700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025351", "name": "Multiple congenital anomalies-neurodevelopmental syndrome, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Linked syndrome", "MCAND", "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive"], "xref": ["MEDGEN:1788942", "OMIM:301056", "UMLS:C5542341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025353", "name": "Developmental and epileptic encephalopathy, 90", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE90", "developmental and epileptic encephalopathy 90", "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant"], "xref": ["DOID:0070381", "GARD:0015286", "MEDGEN:1786502", "OMIM:301058", "UMLS:C5542345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025354", "name": "Spermatogenic failure, x-linked, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGFX3", "spermatogenic failure, X-linked, 3", "spermatogenic failure, X-linked, 3, X-linked recessive"], "xref": ["DOID:0112274", "MEDGEN:1784059", "OMIM:301059", "UMLS:C5542347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025356", "name": "Azoospermia, obstructive, with nephrolithiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OAZON", "azoospermia, obstructive, with nephrolithiasis, X-linked recessive"], "xref": ["MEDGEN:1779119", "OMIM:301060", "UMLS:C5542351"]}
{"category": ["biolink:Disease"], "description": "Virus infections caused by the parvoviridae.", "id": "MONDO:0025371", "name": "Parvoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Parvoviridae caused disease or disorder", "Parvoviridae disease or disorder", "disease due to Parvoviridae"], "xref": ["ICD9:078.89", "MESH:D010322", "SCTID:83223005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025445", "name": "Wieacker-wolff syndrome (spectrum)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ZARD", "ZC4H2-associated disorder", "ZC4H2-associated rare disorders"], "xref": ["GARD:0025477", "OMIMPS:314580"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of type II hypersensitivity.", "id": "MONDO:0025512", "name": "Type ii hypersensitivity reaction disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["disorder of type II hypersensitivity", "type II hypersensitivity disease"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of urticaria (disease).", "id": "MONDO:0025513", "name": "Autoimmune urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["autoimmune urticaria", "autoimmune urticaria (disease)"], "xref": ["ICD9:708.8", "MEDGEN:725554", "SCTID:402397006", "UMLS:C1304191"]}
{"category": ["biolink:Disease"], "description": "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.", "id": "MONDO:0025514", "name": "Livedoid vasculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["livedoid vasculitis", "livedoid vasculopathy"], "xref": ["DOID:0040099", "GARD:0012784", "ICD10CM:L95.0", "ICD9:709.1", "ICD9CM:709.1", "MEDGEN:575376", "MESH:D000090122", "Orphanet:542643", "SCTID:238762002", "UMLS:C0343081", "icd11.foundation:1237292304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025556", "name": "Isocyanate induced asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0040041", "ICD9:506.3", "MEDGEN:729881", "SCTID:404808000", "UMLS:C1321273"]}
{"category": ["biolink:Disease"], "description": "An pneumonia caused by infection with Chlamydia.", "id": "MONDO:0025598", "name": "Pneumonia caused by chlamydia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Chlamydia caused pneumonia", "chlamydial pneumonia"], "xref": ["DOID:0040083", "ICD10CM:J16.0", "ICD9:483.1", "MEDGEN:452440", "MESH:D061387", "SCTID:233609002", "UMLS:C0339959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025622", "name": "Charcot-marie-tooth disease, axonal, mitochondrial form, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMTMA1"], "xref": ["DOID:0061168", "GARD:0025478", "MEDGEN:1731194", "OMIM:500013", "UMLS:C5435765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025667", "name": "Limbal stem cell deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020123", "MEDGEN:295775", "Orphanet:171673", "UMLS:C1561989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025690", "name": "Microcephaly, epilepsy, and diabetes syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MEDS2"], "xref": ["GARD:0018439", "MEDGEN:1782107", "OMIM:619278", "UMLS:C5543294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025691", "name": "Dystonia 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT30"], "xref": ["DOID:0060937", "GARD:0025479", "MEDGEN:1785079", "OMIM:619291", "UMLS:C5543312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025699", "name": "Coffin-siris syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSS12"], "xref": ["DOID:0112370", "GARD:0016443", "MEDGEN:1782096", "OMIM:619325", "UMLS:C5444111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025701", "name": "Leukodystrophy, hypomyelinating, 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HLD22"], "xref": ["DOID:0070402", "GARD:0025480", "MEDGEN:1787833", "OMIM:619328", "UMLS:C5543406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025708", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MMIHS2"], "xref": ["GARD:0016447", "MEDGEN:1788773", "OMIM:619351", "UMLS:C5543476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025712", "name": "Angioedema, hereditary, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HAE4"], "xref": ["GARD:0025481", "MEDGEN:1787336", "OMIM:619360", "UMLS:C5543503"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025713", "name": "Angioedema, hereditary, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HAE7"], "xref": ["GARD:0025482", "MEDGEN:1784046", "OMIM:619366", "UMLS:C5543526"]}
{"category": ["biolink:Disease"], "description": "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.", "id": "MONDO:0025956", "name": "Ovarian remnant syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1856973", "UMLS:C5886744", "icd11.foundation:584962583"]}
{"category": ["biolink:Disease"], "id": "MONDO:0025986", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027919", "MEDGEN:296125", "OMIMPS:249210", "UMLS:C1608393"]}
{"category": ["biolink:Disease"], "description": "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.", "id": "MONDO:0026045", "name": "Prurigo nodularis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD10CM:L28.1", "MEDGEN:120471", "UMLS:C0263353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026404", "name": "X inactivation, familial skewed, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["X inactivation, familial skewed, 1", "X-inactivation, familial skewed", "X-inactivation, familial skewed, 1"], "xref": ["MEDGEN:338394", "MESH:C564716", "OMIM:300087", "UMLS:C1848138"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026426", "name": "X inactivation, familial skewed, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["X-inactivation, familial skewed, 2"], "xref": ["MEDGEN:335376", "MESH:C564572", "OMIM:300179", "UMLS:C1846257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026720", "name": "Mitochondrial complex i deficiency, nuclear type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mitochondrial complex i deficiency, nuclear type 12, X-linked recessive"], "xref": ["DOID:0112099", "GARD:0015283", "MEDGEN:1648278", "OMIM:301020", "UMLS:C4746984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026721", "name": "Mitochondrial complex i deficiency, nuclear type 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112098", "GARD:0015284", "MEDGEN:1648313", "OMIM:301021", "UMLS:C4746985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026722", "name": "Mullegama-klein-martinez syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0111845", "MEDGEN:1683985", "OMIM:301022", "UMLS:C5193008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026723", "name": "Intellectual developmental disorder, x-linked 108", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked 108, X-linked recessive"], "xref": ["DOID:0111844", "GARD:0025483", "MEDGEN:1680544", "OMIM:301024", "UMLS:C5193009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026724", "name": "Paganini-miozzo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Paganini-Miozzo syndrome, X-linked recessive", "mental retardation, X-Linked, syndromic, Paganini-Miozzo type"], "xref": ["DOID:0111843", "MEDGEN:1683361", "OMIM:301025", "UMLS:C5193010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026726", "name": "Nephrotic syndrome, type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070357", "GARD:0015285", "MEDGEN:1678854", "OMIM:301028", "UMLS:C5193011"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026727", "name": "Shukla-vernon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Shukla-Vernon syndrome, X-linked recessive"], "xref": ["DOID:0111841", "GARD:0018511", "MEDGEN:1674076", "OMIM:301029", "UMLS:C5193146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026729", "name": "Congenital disorder of glycosylation, type icc", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital disorder of glycosylation, type Icc, X-linked recessive"], "xref": ["DOID:0111839", "GARD:0025484", "MEDGEN:1684742", "OMIM:301031", "UMLS:C5231393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026730", "name": "Basilicata-akhtar syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Basilicata-Akhtar syndrome", "Basilicata-Akhtar syndrome, X-linked dominant"], "xref": ["DOID:0111838", "GARD:0025485", "MEDGEN:1684820", "OMIM:301032", "UMLS:C5231394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026731", "name": "Hypothyroidism, congenital, nongoitrous, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111837", "GARD:0025486", "MEDGEN:1684717", "OMIM:301033", "UMLS:C5231395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026732", "name": "Hypothyroidism, congenital, nongoitrous, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypothyroidism, congenital, nongoitrous, 9, X-linked recessive"], "xref": ["DOID:0111835", "GARD:0025487", "MEDGEN:1684807", "OMIM:301035", "UMLS:C5231396"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026733", "name": "Intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive"], "xref": ["GARD:0025488", "MEDGEN:1716269", "OMIM:301039", "Orphanet:700325", "UMLS:C5393302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026762", "name": "Wieacker-wolff syndrome, female-restricted", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Wieacker-Wolff syndrome, female-restricted, X-linked dominant"], "xref": ["DOID:0061015", "GARD:0025489", "MEDGEN:1715791", "OMIM:301041", "UMLS:C5393303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026763", "name": "Holoprosencephaly 13, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant"], "xref": ["DOID:0060954", "GARD:0025490", "MEDGEN:1714826", "OMIM:301043", "UMLS:C5393308"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026765", "name": "Congenital disorder of glycosylation, type iir", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital disorder of glycosylation, type IIr, X-linked recessive"], "xref": ["DOID:0051048", "GARD:0025491", "MEDGEN:1717186", "OMIM:301045", "UMLS:C5393313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026767", "name": "Immunodeficiency 74, covid-19-related, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["immunodeficiency 74, COVID19-related, X-linked, X-linked recessive"], "xref": ["DOID:0112063", "MEDGEN:1768360", "OMIM:301051", "UMLS:C5435745"]}
{"category": ["biolink:Disease"], "id": "MONDO:0026771", "name": "Developmental and epileptic encephalopathy, 85, with or without midline brain defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE85, with or without midline brain defects", "EIEE85", "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant", "epileptic encephalopathy, early infantile, 85, with or without midline brain defects"], "xref": ["DOID:0070380", "GARD:0025492", "MEDGEN:1708832", "OMIM:301044", "UMLS:C5393312"]}
{"category": ["biolink:Disease"], "description": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.", "id": "MONDO:0026777", "name": "Vexas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["VEXAS", "VEXAS syndrome, somatic", "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome"], "xref": ["DOID:0080828", "GARD:0015001", "MEDGEN:1765785", "NCIT:C181924", "OMIM:301054", "Orphanet:596753", "UMLS:C5435753"]}
{"category": ["biolink:Disease"], "description": "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.", "id": "MONDO:0027026", "name": "Buschke lowenstein tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Buschke Lowenstein tumor"], "xref": ["GARD:0009663", "MEDGEN:473018", "MESH:D062688", "NCIT:C6371", "SCTID:402910001", "UMLS:C0276264"]}
{"category": ["biolink:Disease"], "description": "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.", "id": "MONDO:0027029", "name": "Hhv-6 encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0009667", "MEDGEN:363034", "UMLS:C1955629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027048", "name": "Deafness, y-linked 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNY2"], "xref": ["DOID:0111758", "GARD:0025493", "MEDGEN:1677048", "OMIM:400047", "UMLS:C5193013"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex I deficiency, mitochondrial type, in which the cause of the disease is a mutation in the MTND3 gene.", "id": "MONDO:0027068", "name": "Mitochondrial complex i deficiency, mitochondrial type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC1DM1", "mitochondrial complex I deficiency, mitochondrial type 1"], "xref": ["DOID:0112101", "GARD:0025494", "MEDGEN:1648371", "OMIM:500014", "UMLS:C4746992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027069", "name": "Mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC5DM1", "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1"], "xref": ["DOID:0111748", "GARD:0025495", "MEDGEN:477315", "OMIM:500015", "UMLS:C3275684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027091", "name": "Xanthogranulomatous sialadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sialadenitis, xanthogranulomatous"], "xref": ["MEDGEN:444028", "MESH:C536763", "UMLS:C2931315"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.", "id": "MONDO:0027353", "name": "Autosomal recessive dyskeratosis congenita 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["dyskeratosis congenita, autosomal recessive 4"], "xref": ["DOID:0070021", "GARD:0025496", "MEDGEN:462794", "UMLS:C3151444"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.", "id": "MONDO:0027407", "name": "Kleefstra syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kleefstra syndrome 1"], "xref": ["DOID:0060352", "DOID:0070075", "GARD:0025497", "MEDGEN:208639", "MESH:C563043", "NCIT:C129976", "OMIM:610253", "SCTID:724207001", "UMLS:C0795833"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.", "id": "MONDO:0027451", "name": "Autosomal recessive cutis laxa type 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCL2D"], "xref": ["DOID:0070129", "GARD:0025498", "MEDGEN:1376619", "OMIM:617403", "UMLS:C4479409"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.", "id": "MONDO:0027462", "name": "Autosomal recessive cutis laxa type 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070140", "GARD:0025499", "MEDGEN:1385755", "OMIM:617402", "UMLS:C4479387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027652", "name": "5-fluorouracil toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027653", "name": "Abacavir toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027655", "name": "Allopurinol toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027664", "name": "Cisplatin toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027666", "name": "Codeine toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027667", "name": "Efavirenz toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027668", "name": "Flucloxacilline toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240871"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027675", "name": "Irinotecan toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240885"]}
{"category": ["biolink:Disease"], "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.", "id": "MONDO:0027676", "name": "Congenital anomalies of kidney and urinary tract 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TBX18 congenital anomaly of kidney and urinary tract", "congenital anomalies of kidney and urinary tract 2", "congenital anomalies of kidney and urinary tract type 2", "congenital anomaly of kidney and urinary tract caused by mutation in TBX18"], "xref": ["DOID:0080207", "GARD:0025500", "MEDGEN:1804316", "OMIM:143400", "UMLS:C5574705"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027677", "name": "Isoniazid toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240887"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027687", "name": "Raltegravir toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027694", "name": "Amyotrophic lateral sclerosis type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS23"], "xref": ["DOID:0080225", "GARD:0016262", "MEDGEN:1645924", "OMIM:617839", "UMLS:C4693381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0027696", "name": "Voriconazole toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:240921"]}
{"category": ["biolink:Disease"], "description": "Hereditary disease by a qualitative or quantitative deficiencies or overexpression and/or abnormal accumulation of SERPIN; SERPINs are members of the serpin (serine proteinase inhibitors) superfamily which includes proteins with serine protease inhibitor activity and some that do not exhibit this inhibitory activity against serine proteases.", "id": "MONDO:0027749", "name": "Serpinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0020683", "MEDGEN:1842372", "Orphanet:250805", "UMLS:C5680704"]}
{"category": ["biolink:Disease"], "description": "Almost complete absence of subcutaneous and/or visceral adipose tissue.", "id": "MONDO:0027766", "name": "Generalized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["complete generalised lipodystrophy", "complete generalized lipodystrophy"], "xref": ["DOID:0080298", "GARD:0027920", "HP:0009064", "MEDGEN:1369615", "NCIT:C131815", "UMLS:C4317112"]}
{"category": ["biolink:Disease"], "description": "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.", "id": "MONDO:0027767", "name": "Partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080299", "GARD:0027921", "MEDGEN:1386287", "NCIT:C131296", "UMLS:C4316789"]}
{"category": ["biolink:Disease"], "description": "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.", "id": "MONDO:0027772", "name": "Lung colloid adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lung colloid adenocarcinoma", "lung mucinous cystadenocarcinoma", "lung mucinous cystic tumor of borderline malignancy", "lung mucinous cystic tumour of borderline malignancy"], "xref": ["DOID:0080303", "DOID:0080304", "GARD:0025501", "MEDGEN:313370", "NCIT:C45512", "UMLS:C1708776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0028226", "name": "Autosomal recessive severe congenital neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "xref": ["GARD:0021834", "MEDGEN:1781858", "NCIT:C176624", "Orphanet:439849", "UMLS:C5447331"]}
{"category": ["biolink:Disease"], "description": "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.", "id": "MONDO:0029000", "name": "Poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"], "xref": ["EFO:0008546", "MESH:D011041", "SCTID:75478009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029130", "name": "Polydactyly, postaxial, type a8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["polydactyly, postaxial, type A8"], "xref": ["GARD:0016293", "MEDGEN:1648405", "OMIM:618123", "UMLS:C4748277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029131", "name": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"], "xref": ["MEDGEN:1648480", "OMIM:618124", "UMLS:C4748283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029132", "name": "Liddle syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Liddle syndrome 3"], "xref": ["GARD:0025502", "MEDGEN:1648443", "OMIM:618126", "UMLS:C4748292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029133", "name": "Muscular dystrophy, limb-girdle, autosomal dominant 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LGMD type D4", "LGMD1I", "LGMDD4", "calpain-3-related LGMD D4", "calpain-3-related limb-girdle muscular dystrophy D4", "limb-girdle muscular dystrophy type D4", "muscular dystrophy, limb-girdle, autosomal dominant 4", "muscular dystrophy, limb-girdle, type 1I"], "xref": ["GARD:0022272", "MEDGEN:1648316", "OMIM:618129", "Orphanet:565909", "UMLS:C4748295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029134", "name": "Severe combined immunodeficiency due to carmil2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 58"], "xref": ["DOID:0111984", "GARD:0017981", "MEDGEN:1648422", "OMIM:618131", "Orphanet:542301", "UMLS:C4748304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029135", "name": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LGMD-POMGNT2 related myopathy"], "xref": ["DOID:0112382", "GARD:0016294", "MEDGEN:1648468", "OMIM:618135", "UMLS:C4748320"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029136", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["laminin subunit alpha 2-related limb-girdle muscular dystrophy R23", "muscular dystrophy, limb-girdle, autosomal recessive 23"], "xref": ["DOID:0061132", "GARD:0022270", "MEDGEN:1648462", "OMIM:618138", "Orphanet:565837", "UMLS:C4748327"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029137", "name": "Hearing loss, autosomal dominant 74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112165", "GARD:0018151", "MEDGEN:1648467", "OMIM:618140", "UMLS:C4748334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029138", "name": "Developmental and epileptic encephalopathy, 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE67", "EIEE67", "developmental and epileptic encephalopathy 67", "epileptic encephalopathy, early infantile, 67"], "xref": ["DOID:0112203", "GARD:0016295", "MEDGEN:1648285", "OMIM:618141", "UMLS:C4748341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029140", "name": "Glycosylphosphatidylinositol biosynthesis defect 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["developmental and epileptic encephalopathy 95", "glycosylphosphatidylinositol biosynthesis defect 18"], "xref": ["DOID:0070382", "GARD:0025503", "MEDGEN:1648478", "OMIM:618143", "UMLS:C4748357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029141", "name": "Usher syndrome, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Usher syndrome, type IV"], "xref": ["GARD:0025504", "MEDGEN:1648315", "OMIM:618144", "UMLS:C4748364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029142", "name": "Hearing loss, autosomal recessive 111", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111640", "GARD:0022659", "MEDGEN:1648423", "OMIM:618145", "UMLS:C4748374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029143", "name": "Intellectual developmental disorder with hypertelorism and distinctive facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1648403", "OMIM:618147", "UMLS:C4748381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029144", "name": "Extraoral halitosis due to methanethiol oxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive extra-oral halitosis"], "xref": ["MEDGEN:1648340", "OMIM:618148", "Orphanet:562538", "UMLS:C4748387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029145", "name": "Orofacial cleft 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080401", "GARD:0018308", "MEDGEN:377541", "OMIM:618149", "UMLS:C1851878"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029147", "name": "Spermatogenic failure 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111915", "GARD:0018406", "MEDGEN:1648473", "OMIM:618152", "UMLS:C4748395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029148", "name": "Spermatogenic failure 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111911", "GARD:0018407", "MEDGEN:1648297", "OMIM:618153", "UMLS:C4748403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0029465", "name": "Intellectual developmental disorder, autosomal dominant 69", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRD69", "intellectual developmental disorder, autosomal dominant 69", "mental retardation, autosomal dominant 69"], "xref": ["DOID:0061042", "MEDGEN:1808299", "OMIM:617863", "UMLS:C5676896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030005", "name": "Epilepsy, early-onset, with or without developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["EPEDD", "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY", "epilepsy, early-onset, with or without developmental delay"], "xref": ["DOID:0070471", "MEDGEN:1845576", "OMIM:618832", "UMLS:C5882670"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030006", "name": "Combined oxidative phosphorylation deficiency 40", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40", "COXPD40", "combined oxidative phosphorylation deficiency 40"], "xref": ["DOID:0112117", "GARD:0018006", "MEDGEN:1714731", "OMIM:618835", "Orphanet:570491", "UMLS:C5394232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030007", "name": "Combined oxidative phosphorylation deficiency 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41", "COXPD41", "combined oxidative phosphorylation deficiency 41"], "xref": ["DOID:0112119", "GARD:0025505", "MEDGEN:1711853", "OMIM:618838", "UMLS:C5394236"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030008", "name": "Combined oxidative phosphorylation deficiency 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42", "COXPD42", "combined oxidative phosphorylation deficiency 42"], "xref": ["DOID:0112118", "GARD:0025506", "MEDGEN:1709379", "OMIM:618839", "UMLS:C5394237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030009", "name": "Alopecia-intellectual disability syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALOPECIA-MENTAL RETARDATION SYNDROME 4", "APMR4", "alopecia-intellectual disability syndrome 4", "alopecia-mental retardation syndrome 4"], "xref": ["DOID:0080950", "GARD:0016386", "MEDGEN:1713432", "OMIM:618840", "UMLS:C5394241"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030010", "name": "Hypogonadotropic hypogonadism 25 with anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HH25", "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA", "hypogonadotropic hypogonadism 25 with anosmia"], "xref": ["GARD:0016387", "MEDGEN:1717461", "OMIM:618841", "UMLS:C5394246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030012", "name": "Diets-jongmans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DIETS-JONGMANS SYNDROME", "DIJOS", "Intellectual Developmental Disorder With Distinctive Facial Dysmorphism", "diets-jongmans syndrome"], "xref": ["MEDGEN:1714920", "OMIM:618846", "UMLS:C5394263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030013", "name": "Immunodeficiency 66", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IMD66", "IMMUNODEFICIENCY 66", "immunodeficiency 66"], "xref": ["DOID:0111998", "MEDGEN:1717128", "OMIM:618847", "UMLS:C5394265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030014", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LGMDR26", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26", "muscular dystrophy, limb-girdle, autosomal recessive 26"], "xref": ["DOID:0061131", "GARD:0025507", "MEDGEN:1718449", "OMIM:618848", "UMLS:C5394268"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030015", "name": "Bone marrow failure syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BMFS6", "BONE MARROW FAILURE SYNDROME 6", "bone marrow failure syndrome 6"], "xref": ["GARD:0025508", "MEDGEN:1717739", "OMIM:618849", "UMLS:C5394274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030017", "name": "Combined oxidative phosphorylation deficiency 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43", "COXPD43", "combined oxidative phosphorylation deficiency 43"], "xref": ["DOID:0112116", "GARD:0025509", "MEDGEN:1718250", "OMIM:618851", "UMLS:C5394284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030018", "name": "Cria Syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AIEFL", "AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY", "Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome", "Cria Syndrome", "autoinflammation with episodic fever and lymphadenopathy"], "xref": ["GARD:0015002", "MEDGEN:1719052", "OMIM:618852", "UMLS:C5394286"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030019", "name": "Anauxetic dysplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANAUXETIC DYSPLASIA 3", "ANXD3", "anauxetic dysplasia 3"], "xref": ["DOID:0080963", "GARD:0025510", "MEDGEN:1718444", "OMIM:618853", "UMLS:C5394289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030020", "name": "Combined oxidative phosphorylation deficiency 44", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44", "COXPD44", "combined oxidative phosphorylation deficiency 44"], "xref": ["DOID:0070424", "GARD:0025511", "MEDGEN:1718899", "OMIM:618855", "UMLS:C5394293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030024", "name": "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDASB", "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES", "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"], "xref": ["GARD:0027922", "MEDGEN:1714862", "OMIM:618859", "UMLS:C5394311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030025", "name": "Neurodevelopmental disorder with hypotonia, microcephaly, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDHYMS", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES", "neurodevelopmental disorder with hypotonia, microcephaly, and seizures"], "xref": ["MEDGEN:1710110", "OMIM:618862", "UMLS:C5394312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030026", "name": "Retinal dystrophy with leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RDLKD", "RETINAL DYSTROPHY WITH LEUKODYSTROPHY", "retinal dystrophy with leukodystrophy"], "xref": ["DOID:0080946", "MEDGEN:1715138", "OMIM:618863", "UMLS:C5394315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030027", "name": "Tremor, hereditary essential, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ETM6", "TREMOR, HEREDITARY ESSENTIAL, 6", "tremor, hereditary essential, 6"], "xref": ["DOID:0081295", "MEDGEN:1711112", "OMIM:618866", "UMLS:C5394329"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030028", "name": "Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CONATOC", "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"], "xref": ["GARD:0027266", "MEDGEN:1715031", "OMIM:618868", "UMLS:C5394335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030029", "name": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SDJLABA", "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE", "skeletal dysplasia, mild, with joint laxity and advanced bone age"], "xref": ["MEDGEN:1711043", "OMIM:618870", "UMLS:C5394341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030030", "name": "Nizon-isidor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NIZIDS", "NIZON-ISIDOR SYNDROME", "nizon-isidor syndrome"], "xref": ["MEDGEN:1715748", "OMIM:618872", "UMLS:C5394350"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030031", "name": "Lissencephaly 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["LIS10", "LISSENCEPHALY 10", "lissencephaly 10"], "xref": ["DOID:0112229", "GARD:0025512", "MEDGEN:1719546", "OMIM:618873", "UMLS:C5394354"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030033", "name": "Seizures, early-onset, with neurodegeneration and brain calcifications", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS", "SENEBAC", "seizures, early-onset, with neurodegeneration and brain calcification", "seizures, early-onset, with neurodegeneration and brain calcifications"], "xref": ["MEDGEN:1713658", "OMIM:618875", "UMLS:C5394359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030034", "name": "Epilepsy, progressive myoclonic, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EPILEPSY, PROGRESSIVE MYOCLONIC, 11", "EPM11", "epilepsy, progressive myoclonic, 11"], "xref": ["GARD:0025513", "MEDGEN:1716712", "OMIM:618876", "UMLS:C5394362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030035", "name": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LEUDEN", "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME", "Leuden Syndrome", "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"], "xref": ["MEDGEN:1719567", "OMIM:618877", "UMLS:C5394367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030036", "name": "Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LEMSPAD", "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME", "Lemspad Syndrome", "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"], "xref": ["MEDGEN:1719764", "OMIM:618878", "UMLS:C5394371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030037", "name": "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Glycosylphosphatidylinositol Biosynthesis Defect 22", "NEDHCAS", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES", "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"], "xref": ["GARD:0025514", "MEDGEN:1710849", "OMIM:618879", "UMLS:C5394372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030038", "name": "Hereditary glaucoma, primary closed-angle", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GLCC", "glaucoma, primary closed-angle", "hereditary primary angle-closure glaucoma"], "xref": ["GARD:0027267", "MEDGEN:1712967", "OMIM:618880", "UMLS:C5394374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030042", "name": "Proteinuria, chronic benign", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["PROCHOB", "PROTEINURIA, CHRONIC BENIGN", "proteinuria, chronic benign"], "xref": ["MEDGEN:1714078", "OMIM:618884", "UMLS:C5394384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030043", "name": "Congenital disorder of glycosylation, type iit", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CDG2T", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt", "Cdg Iit"], "xref": ["DOID:0051049", "GARD:0025515", "MEDGEN:1709627", "OMIM:618885", "UMLS:C5394387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030044", "name": "Pseudo-torch syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PSEUDO-TORCH SYNDROME 3", "PTORCH3", "pseudo-torch syndrome 3"], "xref": ["GARD:0025516", "MEDGEN:1708513", "OMIM:618886", "UMLS:C5394391"]}
{"category": ["biolink:Disease"], "description": "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.", "id": "MONDO:0030045", "name": "Liberfarb syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["LIBF", "Liberfarb syndrome", "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome", "spondyloepimetaphyseal dysplasia, Liberfarb Type"], "xref": ["GARD:0022350", "MEDGEN:1709796", "OMIM:618889", "Orphanet:589442", "UMLS:C5394404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030046", "name": "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDBASS", "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY", "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity"], "xref": ["MEDGEN:1711516", "OMIM:618890", "UMLS:C5394423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030047", "name": "Microcephaly, developmental delay, and brittle hair syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MDBH", "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME", "microcephaly, developmental delay, and brittle hair syndrome"], "xref": ["MEDGEN:1718781", "OMIM:618891", "UMLS:C5394425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030048", "name": "Harderoporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["HARDEROPORPHYRIA", "HARPO", "harderoporphyria"], "xref": ["GARD:0025517", "MEDGEN:137981", "MESH:C562816", "OMIM:618892", "Orphanet:659672", "UMLS:C0342859", "icd11.foundation:1664486132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030049", "name": "46,xx sex reversal 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["46,XX SEX REVERSAL 5", "46,xx sex reversal 5", "SRXX5"], "xref": ["DOID:0080943", "MEDGEN:1713956", "OMIM:618901", "UMLS:C5394441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030051", "name": "Intellectual developmental disorder with autistic features and language delay, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["IDDALDS", "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES", "intellectual developmental disorder with autistic features and language delay, with or without seizures"], "xref": ["DOID:0081430", "GARD:0018522", "MEDGEN:1715081", "OMIM:618906", "UMLS:C5394447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030054", "name": "Developmental and epileptic encephalopathy, 86", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE86", "EIEE86", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86", "developmental and epileptic encephalopathy 86", "epileptic encephalopathy, early infantile, 86"], "xref": ["DOID:0112220", "GARD:0016391", "MEDGEN:1711964", "OMIM:618910", "UMLS:C5394462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030055", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SORDD", "sorbitol dehydrogenase deficiency", "sorbitol dehydrogenase deficiency with peripheral neuropathy"], "xref": ["DOID:0081427", "GARD:0025518", "MEDGEN:1714781", "OMIM:618912", "Orphanet:700508", "UMLS:C5394466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030056", "name": "Fanconi renotubular syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FANCONI RENOTUBULAR SYNDROME 5", "FRTS5", "Fanconi Renotubular Syndrome, Acadian Variant", "Fanconi renotubular syndrome 5"], "xref": ["DOID:0080761", "GARD:0016392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030057", "name": "Neurodevelopmental, jaw, eye, and digital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDJED", "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME", "neurodevelopmental, jaw, eye, and digital syndrome"], "xref": ["GARD:0018523", "MEDGEN:1712714", "OMIM:618914", "UMLS:C5394477"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030058", "name": "Hearing loss, autosomal dominant 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112168", "GARD:0018155", "MEDGEN:1709284", "OMIM:618915", "UMLS:C5394499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030059", "name": "Developmental and epileptic encephalopathy, 87", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE87", "EIEE87", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87", "developmental and epileptic encephalopathy 87", "epileptic encephalopathy, early infantile, 87"], "xref": ["DOID:0112221", "GARD:0016393", "MEDGEN:1719688", "OMIM:618916", "UMLS:C5394501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030060", "name": "Neurodevelopmental disorder with language impairment and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GRIA2-related complex neurodevelopmental disorder", "NEDLIB", "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES", "neurodevelopmental disorder with language impairment and behavioral abnormalities"], "xref": ["GARD:0027923", "MEDGEN:1708389", "OMIM:618917", "UMLS:C5394502"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030061", "name": "Periventricular nodular heterotopia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PERIVENTRICULAR NODULAR HETEROTOPIA 9", "PVNH9", "periventricular nodular heterotopia 9"], "xref": ["DOID:0061246", "GARD:0016394", "MEDGEN:1718470", "OMIM:618918", "UMLS:C5394503"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030062", "name": "Arrhythmogenic right ventricular dysplasia, familial, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14", "ARVD14", "Arrhythmogenic Right Ventricular Cardiomyopathy 14", "arrhythmogenic right ventricular dysplasia, familial, 14"], "xref": ["DOID:0080959", "GARD:0025519", "MEDGEN:1712001", "OMIM:618920", "UMLS:C5394505"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030063", "name": "Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDSHBA", "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES", "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities", "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"], "xref": ["GARD:0018524", "MEDGEN:1708579", "OMIM:618922", "UMLS:C5394517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030064", "name": "Episodic ataxia, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["EA9", "EPISODIC ATAXIA, TYPE 9", "episodic ataxia, type 9"], "xref": ["DOID:0060965", "GARD:0025520", "MEDGEN:1714171", "OMIM:618924", "UMLS:C5394520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030065", "name": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ACOGS", "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME", "agenesis of corpus callosum, cardiac, ocular, and genital syndrome"], "xref": ["DOID:0080948", "MEDGEN:1718475", "OMIM:618929", "UMLS:C5394523"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030066", "name": "Granulomatous disease, chronic, autosomal recessive, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CGD5", "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5", "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency", "chronic granulomatous disease 5, autosomal recessive", "granulomatous disease, chronic, autosomal recessive, 5"], "xref": ["DOID:0070368", "GARD:0016395", "MEDGEN:1710326", "OMIM:618935", "UMLS:C5394542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030067", "name": "Treacher collins syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TCS4", "TREACHER COLLINS SYNDROME 4", "Treacher-Collins syndrome 4", "treacher collins syndrome 4"], "xref": ["DOID:0080792", "GARD:0016396", "MEDGEN:1712280", "OMIM:618939", "UMLS:C5394546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030069", "name": "Hyper-ige recurrent infection syndrome 5, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HIES5", "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE", "hyper-IgE recurrent infection syndrome 5, autosomal recessive"], "xref": ["GARD:0025521", "MEDGEN:1716052", "OMIM:618944", "UMLS:C5394550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030070", "name": "Heterotaxy, visceral, 9, autosomal, with male infertility", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY", "HTX9", "heterotaxy, visceral, 9, autosomal, with male infertility"], "xref": ["DOID:0051023", "GARD:0025522", "MEDGEN:1717772", "OMIM:618948", "UMLS:C5394551"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030071", "name": "Retinitis pigmentosa 89", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["RETINITIS PIGMENTOSA 89", "RP89", "retinitis pigmentosa 89"], "xref": ["DOID:0112146", "MEDGEN:1710499", "OMIM:618955", "UMLS:C5394552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030072", "name": "Developmental and epileptic encephalopathy, 88", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE88", "EIEE88", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88", "developmental and epileptic encephalopathy 88", "epileptic encephalopathy, early infantile, 88"], "xref": ["DOID:0112222", "GARD:0016398", "MEDGEN:1712195", "OMIM:618959", "UMLS:C5394553"]}
{"category": ["biolink:Disease"], "description": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.", "id": "MONDO:0030073", "name": "Mitchell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACOX1 upregulation", "MITCH", "Mitchell syndrome"], "xref": ["DOID:0070516", "GARD:0025523", "MEDGEN:1714342", "OMIM:618960", "Orphanet:631248", "UMLS:C5394554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030074", "name": "Spondylometaphyseal dysplasia with corneal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SMDCD", "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY", "spondylometaphyseal dysplasia with corneal dystrophy"], "xref": ["DOID:0112303", "GARD:0018016", "MEDGEN:1714019", "OMIM:618961", "Orphanet:589435", "UMLS:C5394555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030077", "name": "Vertebral, cardiac, renal, and limb defects syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Congenital Nad Deficiency Disorder 3", "VCRL3", "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3", "vertebral, cardiac, renal, and limb defects syndrome 3"], "xref": ["GARD:0018510", "MEDGEN:1709064", "OMIM:618845", "UMLS:C5394250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030087", "name": "Diabetes mellitus, permanent neonatal 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNDM2"], "xref": ["GARD:0016388", "MEDGEN:1713823", "OMIM:618856", "UMLS:C5394296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030088", "name": "Diabetes mellitus, permanent neonatal 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNDM3"], "xref": ["GARD:0016389", "MEDGEN:1717271", "OMIM:618857", "UMLS:C5394303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030089", "name": "Diabetes mellitus, permanent neonatal 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIABETES MELLITUS, PERMANENT NEONATAL 4", "PNDM4", "diabetes mellitus, permanent neonatal 4"], "xref": ["GARD:0016390", "MEDGEN:1711191", "OMIM:618858", "UMLS:C5394307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030105", "name": "Galactosemia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GALAC4", "GALACTOSEMIA IV", "Galactose Mutarotase Deficiency", "galactosemia iv"], "xref": ["DOID:0060969", "GARD:0018005", "MEDGEN:1718159", "OMIM:618881", "Orphanet:570422", "UMLS:C5394377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030116", "name": "Silver-russell syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SILVER-RUSSELL SYNDROME 2", "SRS2", "Uniparental Disomy, Maternal, Chromosome 7", "silver-russell syndrome 2"], "xref": ["GARD:0025524", "MEDGEN:1714148", "OMIM:618905", "UMLS:C5394446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030118", "name": "Silver-russell syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SILVER-RUSSELL SYNDROME 4", "SRS4", "silver-russell syndrome 4"], "xref": ["GARD:0018464", "MEDGEN:1712866", "OMIM:618907", "UMLS:C5394450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030134", "name": "Oculopharyngodistal myopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["OCULOPHARYNGODISTAL MYOPATHY 2", "OPDM2", "oculopharyngodistal myopathy 2"], "xref": ["DOID:0081298", "GARD:0016397", "MEDGEN:1718769", "OMIM:618940", "UMLS:C5394548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030258", "name": "Pontocerebellar hypoplasia, type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PCH14", "pontocerebellar hypoplasia, type 14"], "xref": ["DOID:0112325", "GARD:0018032", "MEDGEN:1778516", "OMIM:619301", "Orphanet:613274", "UMLS:C5543322"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030259", "name": "Pontocerebellar hypoplasia, type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCH15", "pontocerebellar hypoplasia, type 15"], "xref": ["DOID:0112326", "GARD:0018563", "MEDGEN:1781311", "OMIM:619302", "UMLS:C5543326"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030260", "name": "Pontocerebellar hypoplasia, type 1e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PCH1E", "pontocerebellar hypoplasia, type 1E"], "xref": ["DOID:0112330", "GARD:0016441", "MEDGEN:1788285", "OMIM:619303", "UMLS:C5543328"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030261", "name": "Pontocerebellar hypoplasia, type 1f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCH1F", "pontocerebellar hypoplasia, type 1F"], "xref": ["DOID:0112331", "GARD:0016442", "MEDGEN:1785905", "OMIM:619304", "UMLS:C5543331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030263", "name": "Leukodystrophy, hypomyelinating, 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HLD21", "leukodystrophy, hypomyelinating, 21"], "xref": ["DOID:0070407", "GARD:0025525", "MEDGEN:1778269", "OMIM:619310", "UMLS:C5543334"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.", "id": "MONDO:0030266", "name": "Immunodeficiency 80 with or without congenital cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD80", "MCM10 deficiency", "immunodeficiency 80 with or without cardiomyopathy", "immunodeficiency 80 with or without congenital cardiomyopathy", "immunodeficiency with or without congenital cardiomyopathy"], "xref": ["DOID:0061051", "MEDGEN:1786417", "OMIM:619313", "UMLS:C5543344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030268", "name": "Developmental and epileptic encephalopathy 6b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE6B", "developmental and epileptic encephalopathy 6B", "developmental and epileptic encephalopathy 6B, non-Dravet"], "xref": ["DOID:0070379", "GARD:0025526", "MEDGEN:1779648", "OMIM:619317", "UMLS:C5543353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030270", "name": "Lymphatic malformation 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMPHM9", "lymphatic malformation 9"], "xref": ["GARD:0025527", "MEDGEN:1779656", "OMIM:619319", "UMLS:C5543365"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030281", "name": "Arthrogryposis multiplex congenita 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AMC6", "arthrogryposis multiplex congenita 6"], "xref": ["DOID:0070336", "GARD:0025528", "MEDGEN:1786758", "OMIM:619334", "UMLS:C5543431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030293", "name": "Angioedema, hereditary, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HAE5", "angioedema, hereditary, 5"], "xref": ["GARD:0025529", "MEDGEN:1780904", "OMIM:619361", "UMLS:C5543508"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030294", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMIHS3", "megacystis-microcolon-intestinal hypoperistalsis syndrome 3"], "xref": ["GARD:0027924", "MEDGEN:1780019", "OMIM:619362", "UMLS:C5543513"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030296", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMIHS4", "megacystis-microcolon-intestinal hypoperistalsis syndrome 4"], "xref": ["GARD:0027925", "MEDGEN:1783600", "OMIM:619365", "UMLS:C5543519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030298", "name": "Angioedema, hereditary, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HAE8", "angioedema, hereditary, 8"], "xref": ["GARD:0025530", "MEDGEN:1780930", "OMIM:619367", "UMLS:C5543528"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.", "id": "MONDO:0030300", "name": "Cardiomyopathy, dilated, 2d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2D", "cardiomyopathy, dilated, 2D"], "xref": ["DOID:0081160", "GARD:0025531", "MEDGEN:1782612", "OMIM:619371", "UMLS:C5543535"]}
{"category": ["biolink:Disease"], "description": "A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.", "id": "MONDO:0030302", "name": "Immunodeficiency 81", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD81", "T-B+ severe combined immunodeficiency due to SLP76 deficiency", "immunodeficiency 81"], "xref": ["DOID:0061052", "MEDGEN:1788669", "OMIM:619374", "UMLS:C5543540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030307", "name": "Spermatogenic failure 55", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF55", "spermatogenic failure 55"], "xref": ["DOID:0112337", "MEDGEN:1781781", "OMIM:619380", "UMLS:C5543580"]}
{"category": ["biolink:Disease"], "description": "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.", "id": "MONDO:0030308", "name": "Immunodeficiency 82 with systemic inflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD82", "immunodeficiency 82 with systemic inflammation", "immunodeficiency with systemic inflammation"], "xref": ["DOID:0061053", "MEDGEN:1781752", "OMIM:619381", "Orphanet:695807", "UMLS:C5543581"]}
{"category": ["biolink:Disease"], "description": "A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations.", "id": "MONDO:0030309", "name": "Leber hereditary optic neuropathy, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LHONAR", "Leber hereditary optic neuropathy, autosomal recessive"], "xref": ["GARD:0025532", "MEDGEN:1786310", "OMIMPS:619382", "UMLS:C5543589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030311", "name": "Combined oxidative phosphorylation deficiency 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COXPD52", "combined oxidative phosphorylation deficiency 52"], "xref": ["DOID:0070425", "GARD:0025533", "MEDGEN:1780479", "OMIM:619386", "UMLS:C5543592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030312", "name": "Spinocerebellar ataxia, autosomal recessive 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Barakat-Van Ham-Kaya syndrome", "SCAR29", "neurodevelopmental disorder with hypotonia and cerebellar ataxia", "spinocerebellar ataxia, autosomal recessive 29"], "xref": ["DOID:0070410", "GARD:0025534", "MEDGEN:1788435", "OMIM:619389", "UMLS:C5543595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030314", "name": "Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IBD31", "inflammatory bowel disease (infantile ulcerative colitis) 31", "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive"], "xref": ["MEDGEN:1783277", "OMIM:619398", "UMLS:C5444224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030316", "name": "Lymphatic malformation 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMPHM11", "lymphatic malformation 11"], "xref": ["GARD:0025535", "MEDGEN:1784862", "OMIM:619401", "UMLS:C5543614"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030317", "name": "Cardiomyopathy, familial hypertrophic, 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMH28", "cardiomyopathy, familial hypertrophic, 28"], "xref": ["GARD:0025536", "MEDGEN:1779612", "OMIM:619402", "UMLS:C5543616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030318", "name": "Spinocerebellar ataxia, autosomal recessive 30", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCAR30", "spinocerebellar ataxia, autosomal recessive 30"], "xref": ["DOID:0070411", "GARD:0025537", "MEDGEN:1778853", "OMIM:619405", "UMLS:C5543620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030323", "name": "Spinocerebellar ataxia, autosomal recessive 31", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCAR31", "spinocerebellar ataxia, autosomal recessive 31"], "xref": ["DOID:0070412", "GARD:0025538", "MEDGEN:1786855", "OMIM:619422", "UMLS:C5543627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030326", "name": "Mitochondrial dna depletion syndrome 16b (neuroophthalmic type)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTDPS16B", "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)"], "xref": ["DOID:0070447", "GARD:0025539", "MEDGEN:1780329", "OMIM:619425", "UMLS:C5543632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030329", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMIHS5", "megacystis-microcolon-intestinal hypoperistalsis syndrome 5"], "xref": ["GARD:0027926", "MEDGEN:1782906", "OMIM:619431", "UMLS:C5543636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030330", "name": "Cardiomyopathy, familial restrictive, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RCM6", "cardiomyopathy, familial restrictive, 6"], "xref": ["DOID:0061025", "GARD:0025540", "MEDGEN:1780781", "OMIM:619433", "UMLS:C5543638"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030331", "name": "Ritscher-schinzel syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RTSC4", "Ritscher-Schinzel syndrome 4"], "xref": ["GARD:0025541", "MEDGEN:1794149", "OMIM:619435", "UMLS:C5561939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030332", "name": "Ciliary dyskinesia, primary, 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD46", "ciliary dyskinesia, primary, 46"], "xref": ["GARD:0025542", "MEDGEN:1780196", "OMIM:619436", "UMLS:C5543646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030333", "name": "Immunodeficiency 84", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD84", "immunodeficiency 84", "immunodeficiency due to IKZF3 deficiency"], "xref": ["DOID:0061054", "MEDGEN:1794150", "OMIM:619437", "Orphanet:697385", "UMLS:C5561940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030335", "name": "Diarrhea 12, with microvillus atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DIAR12", "diarrhea 12, with microvillus atrophy", "microvillus inclusion disease 2"], "xref": ["MEDGEN:1794152", "OMIM:619445", "UMLS:C5561942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030337", "name": "Cutis laxa, autosomal recessive, type 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARCL2E", "cutis laxa, autosomal recessive, type 2E", "cutis laxa, autosomal recessive, type IIE"], "xref": ["GARD:0025543", "MEDGEN:1794154", "OMIM:619451", "UMLS:C5561944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030338", "name": "Anencephaly 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ANPH2", "anencephaly 2"], "xref": ["GARD:0027927", "MEDGEN:1794155", "OMIM:619452", "UMLS:C5561945"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030339", "name": "Microcephaly 28, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCPH28", "microcephaly 28, primary, autosomal recessive"], "xref": ["DOID:0051039", "GARD:0025544", "MEDGEN:1794279", "OMIM:619453", "UMLS:C5562069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030341", "name": "Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMS7B", "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive"], "xref": ["GARD:0025545", "MEDGEN:1794157", "OMIM:619461", "UMLS:C5561947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030346", "name": "Ciliary dyskinesia, primary, 47, and lissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD47", "ciliary dyskinesia, primary, 47, and lissencephaly"], "xref": ["GARD:0025546", "MEDGEN:1794161", "OMIM:619466", "UMLS:C5561951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030353", "name": "Joubert syndrome 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["JBTS38", "Joubert syndrome 38"], "xref": ["GARD:0025547", "MEDGEN:1794168", "OMIM:619476", "UMLS:C5561958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030354", "name": "Facioscapulohumeral muscular dystrophy 3, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSHD3", "facioscapulohumeral muscular dystrophy 3, digenic"], "xref": ["DOID:0060917", "GARD:0025548", "MEDGEN:1794169", "OMIM:619477", "UMLS:C5561959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030355", "name": "Facioscapulohumeral muscular dystrophy 4, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FSHD4", "facioscapulohumeral muscular dystrophy 4, digenic", "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant"], "xref": ["DOID:0060918", "GARD:0025549", "MEDGEN:1794170", "OMIM:619478", "UMLS:C5561960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030356", "name": "Short-rib thoracic dysplasia 21 without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SRTD21", "short-rib thoracic dysplasia 21 without polydactyly"], "xref": ["GARD:0025550", "MEDGEN:1794171", "OMIM:619479", "UMLS:C5561961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030360", "name": "Cholestasis, progressive familial intrahepatic, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC6", "cholestasis, progressive familial intrahepatic, 6"], "xref": ["GARD:0025551", "MEDGEN:1794175", "OMIM:619484", "UMLS:C5561965"]}
{"category": ["biolink:Disease"], "description": "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.", "id": "MONDO:0030361", "name": "Aicardi-goutieres syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGS8", "Aicardi-Goutieres syndrome 8"], "xref": ["GARD:0025552", "MEDGEN:1790409", "OMIM:619486", "UMLS:C5551352"]}
{"category": ["biolink:Disease"], "description": "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.", "id": "MONDO:0030362", "name": "Aicardi-goutieres syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AGS9", "Aicardi-Goutieres syndrome 9"], "xref": ["GARD:0025553", "MEDGEN:1794176", "OMIM:619487", "UMLS:C5561966"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.", "id": "MONDO:0030366", "name": "Cardiomyopathy, dilated, 2e", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2E", "cardiomyopathy, dilated, 2E"], "xref": ["DOID:0081161", "GARD:0025554", "MEDGEN:1794180", "OMIM:619492", "UMLS:C5561970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030374", "name": "Whim syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["WHIMS2"], "xref": ["DOID:0060973", "MEDGEN:1785594", "OMIM:619407", "UMLS:C5543622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030375", "name": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMNEPD2"], "xref": ["GARD:0027928", "MEDGEN:1778117", "OMIM:619418", "UMLS:C5543623"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030376", "name": "Martsolf syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MARTS2"], "xref": ["GARD:0025555", "MEDGEN:1779703", "OMIM:619420", "UMLS:C5543626"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.", "id": "MONDO:0030378", "name": "Combined oxidative phosphorylation deficiency 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COXPD53", "combined oxidative phosphorylation deficiency due to C2orf69 deficiency"], "xref": ["DOID:0070426", "GARD:0025556", "MEDGEN:1779083", "OMIM:619423", "UMLS:C5543631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030397", "name": "Portal hypertension, noncirrhotic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NCPH2"], "xref": ["MEDGEN:1794158", "OMIM:619463", "UMLS:C5561948"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030399", "name": "Visceral neuropathy, familial, 2, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VSCN2"], "xref": ["MEDGEN:1794160", "OMIM:619465", "UMLS:C5561950"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030423", "name": "Congenital disorder of glycosylation, type 2v", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDG2V"], "xref": ["DOID:0051050", "GARD:0025557", "MEDGEN:1794181", "OMIM:619493", "Orphanet:695783", "UMLS:C5561971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030428", "name": "Immunodeficiency 85 and autoimmunity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD85"], "xref": ["DOID:0061055", "MEDGEN:1794186", "OMIM:619510", "UMLS:C5561976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030430", "name": "Spermatogenic failure 56", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF56"], "xref": ["DOID:0112336", "MEDGEN:1794188", "OMIM:619515", "UMLS:C5561978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030433", "name": "Charcot-marie-tooth disease, axonal, type 2ff", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMT2FF", "Charcot-Marie-Tooth neuropathy"], "xref": ["GARD:0025558", "MEDGEN:1794191", "OMIM:619519", "UMLS:C5561981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030436", "name": "Anemia, sideroblastic, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SIDBA5"], "xref": ["DOID:0061007", "GARD:0025559", "MEDGEN:1794195", "OMIM:619523", "UMLS:C5561985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030437", "name": "Congenital disorder of glycosylation, type iiw", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDG2W"], "xref": ["DOID:0051051", "GARD:0025560", "MEDGEN:1794196", "OMIM:619525", "UMLS:C5561986"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030438", "name": "Pontocerebellar hypoplasia, type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCH16"], "xref": ["DOID:0112333", "GARD:0025561", "MEDGEN:1794197", "OMIM:619527", "UMLS:C5561987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030439", "name": "Spermatogenic failure 57", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF57"], "xref": ["DOID:0112338", "MEDGEN:1794198", "OMIM:619528", "UMLS:C5561988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030440", "name": "Cone-rod dystrophy 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CORD22"], "xref": ["DOID:0081448", "GARD:0025562", "MEDGEN:1794199", "OMIM:619531", "UMLS:C5561989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030448", "name": "Immunodeficiency 86", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD86"], "xref": ["DOID:0061056", "MEDGEN:1794205", "OMIM:619549", "UMLS:C5561995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030449", "name": "Hearing loss, autosomal recessive 118, with cochlear aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNB118"], "xref": ["DOID:0070672", "GARD:0025563", "MEDGEN:1794206", "OMIM:619553", "UMLS:C5561996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030453", "name": "Developmental and epileptic encephalopathy 97", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE97"], "xref": ["DOID:0070383", "GARD:0025564", "MEDGEN:1794209", "OMIM:619561", "UMLS:C5561999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030454", "name": "Joubert syndrome 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS39"], "xref": ["GARD:0025565", "MEDGEN:1794210", "OMIM:619562", "UMLS:C5562000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030455", "name": "Dystonia 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT31"], "xref": ["DOID:0060938", "GARD:0025566", "MEDGEN:1794211", "OMIM:619565", "UMLS:C5562001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030456", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LGMDR27"], "xref": ["DOID:0061133", "GARD:0025567", "MEDGEN:1794212", "OMIM:619566", "UMLS:C5562002"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.", "id": "MONDO:0030457", "name": "Immunodeficiency 87 and autoimmunity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD87", "immunodeficiency due to DEF6 deficiency"], "xref": ["DOID:0061057", "MEDGEN:1794280", "OMIM:619573", "UMLS:C5562070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030458", "name": "Charcot-marie-tooth disease, axonal, type 2hh", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2HH"], "xref": ["GARD:0025568", "MEDGEN:1794213", "OMIM:619574", "UMLS:C5562003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030462", "name": "Joubert syndrome 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS40"], "xref": ["GARD:0025569", "MEDGEN:1794217", "OMIM:619582", "UMLS:C5562007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030463", "name": "Spermatogenic failure 58", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF58"], "xref": ["DOID:0112352", "MEDGEN:1794218", "OMIM:619585", "UMLS:C5562008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030465", "name": "Cataract 49", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CTRCT49"], "xref": ["MEDGEN:1794220", "OMIM:619593", "UMLS:C5562010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030471", "name": "Galloway-mowat syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GAMOS9"], "xref": ["GARD:0025570", "MEDGEN:1794226", "OMIM:619603", "UMLS:C5562016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030472", "name": "Developmental and epileptic encephalopathy 98", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE98"], "xref": ["DOID:0070384", "GARD:0025571", "MEDGEN:1794227", "OMIM:619605", "UMLS:C5562017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030473", "name": "Developmental and epileptic encephalopathy 99", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE99"], "xref": ["DOID:0070385", "GARD:0025572", "MEDGEN:1794228", "OMIM:619606", "UMLS:C5562018"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030474", "name": "Heterotaxy, visceral, 10, autosomal, with male infertility", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HTX10"], "xref": ["DOID:0051024", "GARD:0025573", "MEDGEN:1794282", "OMIM:619607", "UMLS:C5562072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030475", "name": "Heterotaxy, visceral, 11, autosomal, with male infertility", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HTX11"], "xref": ["DOID:0051025", "GARD:0025574", "MEDGEN:1794229", "OMIM:619608", "UMLS:C5562019"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030476", "name": "Galloway-mowat syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GAMOS10"], "xref": ["GARD:0025575", "MEDGEN:1794230", "OMIM:619609", "UMLS:C5562020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030480", "name": "Hearing loss, autosomal recessive 119", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNB119"], "xref": ["DOID:0070673", "GARD:0025576", "MEDGEN:1794233", "OMIM:619615", "UMLS:C5562023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030482", "name": "Spastic paraplegia 84, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG84", "autosomal recessive spastic paraplegia type 84"], "xref": ["DOID:0112347", "GARD:0025577", "MEDGEN:1794235", "OMIM:619621", "Orphanet:631079", "UMLS:C5562025"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.", "id": "MONDO:0030483", "name": "Immunodeficiency 88", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD88", "Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency"], "xref": ["DOID:0061058", "MEDGEN:1794236", "OMIM:619630", "UMLS:C5562026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030484", "name": "Immunodeficiency 89 and autoimmunity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD89"], "xref": ["DOID:0061059", "MEDGEN:1794237", "OMIM:619632", "UMLS:C5562027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030486", "name": "Dystonia 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT32"], "xref": ["DOID:0060939", "GARD:0025578", "MEDGEN:1794239", "OMIM:619637", "UMLS:C5562029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030487", "name": "Spondylometaphyseal dysplasia, pagnamenta type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMDP"], "xref": ["GARD:0025579", "MEDGEN:1794240", "OMIM:619638", "UMLS:C5562030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030489", "name": "Epidermolysis bullosa simplex 2a, generalized severe", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EBS2A"], "xref": ["GARD:0025580", "OMIM:619555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030490", "name": "Oocyte maturation defect 11", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OOMD11"], "xref": ["MEDGEN:1794243", "OMIM:619643", "UMLS:C5562033"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.", "id": "MONDO:0030491", "name": "Immunodeficiency 91 and hyperinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD91", "immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:"], "xref": ["DOID:0061061", "MEDGEN:1794283", "OMIM:619644", "UMLS:C5562073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030492", "name": "Spermatogenic failure 59", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF59"], "xref": ["DOID:0112357", "MEDGEN:1794244", "OMIM:619645", "UMLS:C5562034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030493", "name": "Spermatogenic failure 60", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF60"], "xref": ["DOID:0112355", "MEDGEN:1794245", "OMIM:619646", "UMLS:C5562035"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.", "id": "MONDO:0030498", "name": "Immunodeficiency 92", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD92", "immunodeficiency due to REL deficiency"], "xref": ["DOID:0061062", "MEDGEN:1794249", "OMIM:619652", "Orphanet:697394", "UMLS:C5562039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030500", "name": "Loeys-dietz syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LDS6"], "xref": ["DOID:0060964", "GARD:0025581", "MEDGEN:1794251", "OMIM:619656", "UMLS:C5562041"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.", "id": "MONDO:0030502", "name": "Tetrasomy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:90710", "MESH:D058670", "NCIT:C36601", "UMLS:C0333689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030503", "name": "Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC7"], "xref": ["GARD:0025583", "MEDGEN:1794253", "OMIM:619658", "UMLS:C5562043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030505", "name": "Cholestasis, progressive familial intrahepatic, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC8"], "xref": ["GARD:0025584", "MEDGEN:1794255", "OMIM:619662", "UMLS:C5562045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030506", "name": "Ovarian dysgenesis 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ODG9"], "xref": ["DOID:0061013", "GARD:0025585", "MEDGEN:1794256", "OMIM:619665", "UMLS:C5562046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030507", "name": "Spermatogenic failure 61", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF61"], "xref": ["DOID:0112350", "MEDGEN:1794258", "OMIM:619672", "UMLS:C5562048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030508", "name": "Spermatogenic failure 62", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF62"], "xref": ["DOID:0112351", "MEDGEN:1794259", "OMIM:619673", "UMLS:C5562049"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030512", "name": "Spastic paraplegia 85, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG85", "autosomal recessive spastic paraplegia type 85"], "xref": ["DOID:0112345", "GARD:0025586", "MEDGEN:1794263", "OMIM:619686", "Orphanet:631082", "UMLS:C5562053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030513", "name": "Dystonia 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT33"], "xref": ["DOID:0060940", "GARD:0025587", "MEDGEN:1794264", "OMIM:619687", "UMLS:C5562054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030514", "name": "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HLD23"], "xref": ["DOID:0070397", "GARD:0025588", "MEDGEN:1794284", "OMIM:619688", "UMLS:C5562074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030515", "name": "Spermatogenic failure 63", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF63"], "xref": ["DOID:0112356", "MEDGEN:1794265", "OMIM:619689", "UMLS:C5562055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030517", "name": "Trichothiodystrophy 8, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TTD8"], "xref": ["DOID:0061023", "GARD:0025589", "MEDGEN:1794267", "OMIM:619691", "UMLS:C5562057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030518", "name": "Trichothiodystrophy 9, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TTD9"], "xref": ["DOID:0061024", "GARD:0025590", "MEDGEN:1794268", "OMIM:619692", "UMLS:C5562058"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.", "id": "MONDO:0030519", "name": "Agammaglobulinemia 9, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AGM9"], "xref": ["DOID:0081141", "GARD:0025591", "MEDGEN:1794269", "OMIM:619693", "Orphanet:693627", "UMLS:C5562059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030522", "name": "Spermatogenic failure 64", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF64"], "xref": ["DOID:0112353", "MEDGEN:1794272", "OMIM:619696", "UMLS:C5562062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030523", "name": "Oocyte maturation defect 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OOMD12"], "xref": ["MEDGEN:1794273", "OMIM:619697", "UMLS:C5562063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030524", "name": "Mucopolysaccharidosis, type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MPS10"], "xref": ["DOID:0061128", "GARD:0025592", "MEDGEN:1794274", "OMIM:619698", "Orphanet:662216", "UMLS:C5562064"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030525", "name": "Epidermolysis bullosa simplex 2b, generalized intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EBS2B"], "xref": ["GARD:0025593", "MEDGEN:1794219", "OMIM:619588", "UMLS:C5562009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030527", "name": "Epidermolysis bullosa simplex 2c, localized", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EBS2C"], "xref": ["GARD:0025594", "MEDGEN:1794221", "OMIM:619594", "UMLS:C5562011"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.", "id": "MONDO:0030528", "name": "Immunodeficiency 93 and hypertrophic cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD93", "immunodeficiency and hypertrophic cardiomyopathy"], "xref": ["DOID:0061063", "MEDGEN:1804175", "OMIM:619705", "Orphanet:693647", "UMLS:C5676899"]}
{"category": ["biolink:Disease"], "description": "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.", "id": "MONDO:0030529", "name": "Agammaglobulinemia 10, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AGM10"], "xref": ["DOID:0081142", "GARD:0025595", "MEDGEN:1806624", "OMIM:619707", "UMLS:C5676900"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030531", "name": "Spermatogenic failure 65", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF65"], "xref": ["DOID:0112354", "MEDGEN:1794277", "OMIM:619712", "UMLS:C5562067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030533", "name": "Intellectual developmental disorder, autosomal recessive 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT73"], "xref": ["DOID:0081233", "GARD:0025596", "MEDGEN:1802013", "OMIM:619717", "UMLS:C5676902"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030534", "name": "Hypogonadotropic hypogonadism 26 with or without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HH26"], "xref": ["GARD:0025597", "MEDGEN:1811919", "OMIM:619718", "UMLS:C5676903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030535", "name": "Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EBS2D"], "xref": ["GARD:0025598", "MEDGEN:1794224", "OMIM:619599", "UMLS:C5562014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030537", "name": "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CCHS2", "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction"], "xref": ["MEDGEN:1794173", "OMIM:619482", "UMLS:C5561963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030538", "name": "Dystonia 34, myoclonic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT34"], "xref": ["DOID:0060957", "GARD:0025599", "MEDGEN:1805016", "OMIM:619724", "UMLS:C5676907"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030539", "name": "Central hypoventilation syndrome, congenital, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CCHS3", "central hypoventilation syndrome, congenital, 3"], "xref": ["MEDGEN:1794174", "OMIM:619483", "UMLS:C5561964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030543", "name": "Combined oxidative phosphorylation deficiency 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COXPD54"], "xref": ["DOID:0070427", "GARD:0025600", "MEDGEN:1812715", "OMIM:619737", "UMLS:C5676912"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030549", "name": "Hearing loss, autosomal dominant 81", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNA81", "hearing loss, autosomal dominant 81"], "xref": ["DOID:0070608", "GARD:0025601", "MEDGEN:1794182", "OMIM:619500", "UMLS:C5561972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030553", "name": "Acromesomelic dysplasia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AMD4"], "xref": ["DOID:0081238", "GARD:0025602", "MEDGEN:1794238", "OMIM:619636", "UMLS:C5562028"]}
{"category": ["biolink:Disease"], "description": "An pneumonia caused by infection with Klebsiella.", "id": "MONDO:0030602", "name": "Klebsiella pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Klebsiella caused pneumonia", "pneumonia due to Klebsiella pneumoniae"], "xref": ["DOID:13272", "ICD10CM:J15.0", "ICD9:482.0", "MEDGEN:636012", "SCTID:64479007", "UMLS:C0519030"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus KLEBSIELLA.", "id": "MONDO:0030603", "name": "Klebsiella infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Klebsiella caused disease or disorder", "Klebsiella disease or disorder"], "xref": ["MESH:D007710", "SCTID:721756002"]}
{"category": ["biolink:Disease"], "description": "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.", "id": "MONDO:0030604", "name": "Cystic partially differentiated nephroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cystic partially differentiated nephroblastoma", "malignant cystic nephroma", "malignant multilocular cystic nephroma"], "xref": ["DOID:7571", "GARD:0025603", "ICDO:8959/1", "ICDO:8959/3", "MEDGEN:220423", "NCIT:C6897", "UMLS:C1266139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030606", "name": "Bryant-li-bhoj neurodevelopmental syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRYLIB1"], "xref": ["DOID:0051011", "GARD:0027929", "MEDGEN:1801103", "OMIM:619720", "UMLS:C5676905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030607", "name": "Bryant-li-bhoj neurodevelopmental syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRYLIB2"], "xref": ["DOID:0051012", "GARD:0027930", "MEDGEN:1811435", "OMIM:619721", "UMLS:C5676906"]}
{"category": ["biolink:Disease"], "description": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA1 gene.", "id": "MONDO:0030608", "name": "Interstitial lung disease 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ILD1", "interstitial lung disease 1"], "xref": ["DOID:0060941", "GARD:0027931", "MEDGEN:1794231", "OMIM:619611", "UMLS:C5562021"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030619", "name": "Retinitis pigmentosa 92", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP92", "retinitis pigmentosa 92"], "xref": ["DOID:0061107", "GARD:0025604", "MEDGEN:1794232", "OMIM:619614", "UMLS:C5562022"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030625", "name": "Dyskinesia with orofacial involvement, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DSKOR", "dyskinesia with orofacial involvement, autosomal recessive"], "xref": ["MEDGEN:1794246", "OMIM:619647", "UMLS:C5562036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030634", "name": "Leukoencephalopathy, hereditary diffuse, with spheroids 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HDLS2", "leukoencephalopathy, hereditary diffuse, with spheroids 2", "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA"], "xref": ["GARD:0027268", "MEDGEN:1794254", "OMIM:619661", "UMLS:C5562044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030639", "name": "Teebi hypertelorism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081073", "MEDGEN:208673", "OMIMPS:145420", "UMLS:C0796179"]}
{"category": ["biolink:Disease"], "description": "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.", "id": "MONDO:0030669", "name": "Gastrointestinal defects and immunodeficiency syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GIDID2", "gastrointestinal defects and immunodeficiency syndrome 2", "multiple intestinal atresia with or without leukopenia"], "xref": ["GARD:0027133", "MEDGEN:1811526", "OMIM:619708", "UMLS:C5676901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030673", "name": "Spastic paraplegia 86, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG86", "autosomal recessive spastic paraplegia type 86", "spastic paraplegia 86, autosomal recessive"], "xref": ["DOID:0112342", "GARD:0025605", "MEDGEN:1801286", "OMIM:619735", "Orphanet:631085", "UMLS:C5676910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030674", "name": "Teebi hypertelorism syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TBHS2", "Teebi hypertelorism syndrome 2"], "xref": ["DOID:0081074", "MEDGEN:1809276", "OMIM:619736", "UMLS:C5676911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030676", "name": "Parkinsonism-dystonia 3, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PKDYS3", "parkinsonism-dystonia 3, childhood-onset"], "xref": ["GARD:0025606", "MEDGEN:1808365", "OMIM:619738", "UMLS:C5676913"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030677", "name": "Charcot-marie-tooth disease, demyelinating, iia 1i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMT1I", "Charcot-Marie-Tooth disease neuropathy, IIA 1I", "Charcot-Marie-Tooth disease, demyelinating, IIA 1I"], "xref": ["GARD:0025607", "MEDGEN:1811493", "OMIM:619742", "UMLS:C5676914"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030679", "name": "Noonan syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS14", "Noonan syndrome 14"], "xref": ["GARD:0025608", "MEDGEN:1807988", "OMIM:619745", "UMLS:C5676916"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.", "id": "MONDO:0030680", "name": "Cardiomyopathy, dilated, 2f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2F", "cardiomyopathy, dilated, 2F"], "xref": ["DOID:0081162", "GARD:0025609", "MEDGEN:1802616", "OMIM:619747", "UMLS:C5676917"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030681", "name": "Immunodeficiency 94 with autoinflammation and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMD94", "immunodeficiency 94 with autoinflammation and dysmorphic facies"], "xref": ["DOID:0061064", "GARD:0025610", "MEDGEN:1802872", "OMIM:619750", "UMLS:C5676918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030684", "name": "Hypogonadotropic hypogonadism 27 without anosmia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HH27", "hypogonadotropic hypogonadism 27 without anosmia"], "xref": ["GARD:0025611", "MEDGEN:1810165", "OMIM:619755", "UMLS:C5676921"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030689", "name": "Charcot-marie-tooth disease, demyelinating, iia 1h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMT1H", "Charcot-Marie-Tooth disease, demyelinating, IIA 1H", "Charcot-Marie-Tooth neuropathy, IIA 1H", "hereditary motor and sensory neuropathy, 1h", "neuropathy, hereditary, with or without age-related macular degeneration"], "xref": ["GARD:0025612", "MEDGEN:1804752", "OMIM:619764", "UMLS:C5676926"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030690", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFBMFT6", "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6"], "xref": ["GARD:0025613", "MEDGEN:1805650", "OMIM:619767", "UMLS:C5676927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030692", "name": "Immunodeficiency 95", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD95", "immunodeficiency 95"], "xref": ["DOID:0061065", "MEDGEN:1802205", "OMIM:619773", "UMLS:C5676929"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.", "id": "MONDO:0030693", "name": "Immunodeficiency 96", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IMD96", "immunodeficiency 96", "immunodeficiency, autosomal recessive due to LIG1 deficiency"], "xref": ["DOID:0061066", "MEDGEN:1810465", "OMIM:619774", "UMLS:C5676930"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030695", "name": "Developmental and epileptic encephalopathy 100", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE100", "developmental and epileptic encephalopathy 100"], "xref": ["DOID:0070386", "GARD:0025614", "MEDGEN:1809351", "OMIM:619777", "UMLS:C5676932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030696", "name": "Mitochondrial dna depletion syndrome 20 (mngie type)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTDPS20", "mitochondrial DNA depletion syndrome 20 (mngie type)", "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related"], "xref": ["DOID:0070451", "GARD:0025615", "MEDGEN:1804209", "OMIM:619780", "UMLS:C5676934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030697", "name": "Myopia 28, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYP28", "myopia 28, autosomal recessive"], "xref": ["MEDGEN:1806812", "OMIM:619781", "UMLS:C5676935"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of glomerulonephritis (disease).", "id": "MONDO:0030700", "name": "Autoimmune glomerulonephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autoimmune glomerulonephritis (disease)"], "xref": ["DOID:0040094", "GARD:0025616", "MEDGEN:480533", "UMLS:C3278903"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of cardiomyopathy.", "id": "MONDO:0030701", "name": "Autoimmune cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0040095", "GARD:0025617"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of atherosclerosis.", "id": "MONDO:0030702", "name": "Autoimmune atherosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0040096"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of vasculitis.", "id": "MONDO:0030703", "name": "Autoimmune vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0040097", "GARD:0025618", "MEDGEN:730236", "SCTID:427213005", "UMLS:C1328843"]}
{"category": ["biolink:Disease"], "description": "Infection of the prostate gland caused by Trichomonas vaginalis.", "id": "MONDO:0030705", "name": "Trichomonas prostatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas prostatitis", "Trichomonas vaginalis caused prostatitis (disease)", "Trichomonas vaginalis prostatitis (disease)", "trichomonal prostatitis"], "xref": ["ICD10CM:A59.02", "ICD9:131.03", "MEDGEN:102261", "NCIT:C35176", "SCTID:71590000", "UMLS:C0153315"]}
{"category": ["biolink:Disease"], "description": "An cystitis caused by infection with Trichomonas vaginalis.", "id": "MONDO:0030706", "name": "Trichomonas cystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas cystitis", "Trichomonas vaginalis caused cystitis", "Trichomonas vaginalis cystitis", "trichomonal cystitis"], "xref": ["ICD9:131.09", "MEDGEN:87425", "NCIT:C35405", "SCTID:197850006", "UMLS:C0341733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030707", "name": "Trichomonas balanoposthitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas balanoposthitis"], "xref": ["MEDGEN:83327", "NCIT:C35406", "UMLS:C0341769"]}
{"category": ["biolink:Disease"], "description": "An cervicitis (disease) caused by infection with Trichomonas vaginalis.", "id": "MONDO:0030708", "name": "Trichomonas cervicitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas cervicitis", "Trichomonas vaginalis caused cervicitis (disease)", "Trichomonas vaginalis cervicitis (disease)"], "xref": ["MEDGEN:149274", "NCIT:C35588", "UMLS:C0742232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030711", "name": "Anemia, congenital dyserythropoietic, type iiib, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDA, IIA IIIB", "CDAN3B", "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive"], "xref": ["DOID:0051001", "GARD:0025619", "MEDGEN:1800829", "OMIM:619789", "UMLS:C5676940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030712", "name": "Oculopharyngodistal myopathy 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OPDM4", "oculopharyngodistal myopathy 4"], "xref": ["DOID:0081300", "GARD:0025620", "MEDGEN:1809981", "OMIM:619790", "UMLS:C5676941"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030714", "name": "Osteogenesis imperfecta, iia 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OI22", "osteogenesis imperfecta, IIA 22"], "xref": ["GARD:0025621", "MEDGEN:1801631", "OMIM:619795", "UMLS:C5676943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030716", "name": "Spermatogenic failure 66", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF66", "spermatogenic failure 66"], "xref": ["DOID:0070565", "MEDGEN:1806298", "OMIM:619799", "UMLS:C5676945"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.", "id": "MONDO:0030717", "name": "Immunodeficiency 97 with autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD97", "immunodeficiency 97 with autoinflammation"], "xref": ["DOID:0061067", "MEDGEN:1802936", "OMIM:619802", "UMLS:C5676946"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030718", "name": "Spermatogenic failure 67", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF67", "spermatogenic failure 67"], "xref": ["DOID:0070566", "MEDGEN:1804099", "OMIM:619803", "UMLS:C5676947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030719", "name": "Hearing loss, autosomal dominant 82", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNA82"], "xref": ["DOID:0070603", "GARD:0025622", "MEDGEN:1803416", "OMIM:619804", "UMLS:C5676948"]}
{"category": ["biolink:Disease"], "description": "An vulvovaginitis caused by infection with Trichomonas vaginalis.", "id": "MONDO:0030720", "name": "Trichomonal vulvovaginitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas vaginalis caused vulvovaginitis", "Trichomonas vaginalis vulvovaginitis", "trichomonal vulvovaginitis"], "xref": ["ICD10CM:A59.01", "ICD9:131.01", "MEDGEN:754472", "SCTID:81598001", "UMLS:C2945558", "icd11.foundation:517019329"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030721", "name": "Spermatogenic failure 68", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF68", "spermatogenic failure 68"], "xref": ["DOID:0070567", "MEDGEN:1812032", "OMIM:619805", "UMLS:C5676949"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030723", "name": "Hearing loss, autosomal dominant 83", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNA83"], "xref": ["DOID:0070609", "GARD:0025623", "MEDGEN:1812664", "OMIM:619808", "UMLS:C5676951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030724", "name": "Hearing loss, autosomal dominant 84", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DFNA84"], "xref": ["DOID:0070604", "GARD:0025624", "MEDGEN:1801352", "OMIM:619810", "UMLS:C5676952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030726", "name": "Neutropenia, severe congenital, 9, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SCN9", "neutropenia, severe congenital, 9, autosomal dominant"], "xref": ["GARD:0025625", "MEDGEN:1802793", "OMIM:619813", "UMLS:C5676954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030727", "name": "Developmental and epileptic encephalopathy 101", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE101", "developmental and epileptic encephalopathy 101"], "xref": ["DOID:0070387", "GARD:0025626", "MEDGEN:1805172", "OMIM:619814", "UMLS:C5676955"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030729", "name": "Tessadori-van haaften neurodevelopmental syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TEVANED1", "Tessadori-van Haaften neurodevelopmental syndrome 1"], "xref": ["MEDGEN:1810348", "OMIM:619758", "UMLS:C5676922"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030730", "name": "Tessadori-van haaften neurodevelopmental syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TEVANED2", "Tessadori-van Haaften neurodevelopmental syndrome 2"], "xref": ["MEDGEN:1803228", "OMIM:619759", "UMLS:C5676923"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030731", "name": "Aortic aneurysm, familial thoracic 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AAT12", "aortic aneurysm, familial thoracic 12"], "xref": ["GARD:0025627", "MEDGEN:1802657", "OMIM:619825", "UMLS:C5676959"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030732", "name": "Spermatogenic failure 69", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF69", "spermatogenic failure 69"], "xref": ["DOID:0070568", "MEDGEN:1811285", "OMIM:619826", "UMLS:C5676960"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030733", "name": "Spermatogenic failure 70", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF70", "spermatogenic failure 70"], "xref": ["DOID:0070569", "MEDGEN:1809945", "OMIM:619828", "UMLS:C5676962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030736", "name": "Ovarian dysgenesis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ODG10", "ovarian dysgenesis 10"], "xref": ["DOID:0061014", "GARD:0025628", "MEDGEN:1801078", "OMIM:619834", "UMLS:C5676966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030746", "name": "Epidermolysis bullosa, junctional 2a, intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JEB2A", "epidermolysis bullosa, junctional 2A, generalised intermediate", "epidermolysis bullosa, junctional 2A, generalized intermediate", "epidermolysis bullosa, junctional 2A, intermediate", "epidermolysis bullosa, junctional 2A, non-herlitz IIA"], "xref": ["GARD:0025629", "MEDGEN:1807376", "OMIM:619783", "UMLS:C5676936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030747", "name": "Epidermolysis bullosa, junctional 2b, severe", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JEB2B", "epidermolysis bullosa, junctional 2B, generalised severe", "epidermolysis bullosa, junctional 2B, generalized severe", "epidermolysis bullosa, junctional 2B, herlitz IIA", "epidermolysis bullosa, junctional 2B, severe"], "xref": ["GARD:0025630", "MEDGEN:1805467", "OMIM:619784", "UMLS:C5676937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030748", "name": "Epidermolysis bullosa, junctional 3a, intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JEB3A", "epidermolysis bullosa, junctional 3A, generalised intermediate", "epidermolysis bullosa, junctional 3A, generalized intermediate", "epidermolysis bullosa, junctional 3A, intermediate", "epidermolysis bullosa, junctional 3A, non-herlitz IIA"], "xref": ["GARD:0025631", "MEDGEN:1812940", "OMIM:619785", "UMLS:C5676938"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030749", "name": "Epidermolysis bullosa, junctional 3b, severe", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JEB3B", "epidermolysis bullosa, junctional 3B, generalised severe", "epidermolysis bullosa, junctional 3B, generalized severe", "epidermolysis bullosa, junctional 3B, herlitz IIA", "epidermolysis bullosa, junctional 3B, severe"], "xref": ["GARD:0025632", "MEDGEN:1807897", "OMIM:619786", "UMLS:C5676939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030750", "name": "Epidermolysis bullosa, junctional 4, intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JEB4", "epidermolysis bullosa, generalised atrophic benign", "epidermolysis bullosa, generalized atrophic benign", "epidermolysis bullosa, junctional 4, intermediate", "epidermolysis bullosa, junctional 4, non-herlitz IIA", "epidermolysis bullosa, junctional, localisata variant"], "xref": ["GARD:0025633", "MEDGEN:382015", "OMIM:619787", "UMLS:C2608084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030756", "name": "Stuve-wiedemann syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["STWS2", "Stuve-Wiedemann syndrome 2"], "xref": ["MEDGEN:1805977", "OMIM:619751", "UMLS:C5676919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030768", "name": "Epidermolysis bullosa, junctional 5a, intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["JEB5A", "epidermolysis bullosa, junctional 5A, generalised intermediate", "epidermolysis bullosa, junctional 5A, generalized intermediate", "epidermolysis bullosa, junctional 5A, intermediate", "epidermolysis bullosa, junctional 5A, non-herlitz IIA"], "xref": ["GARD:0025634", "MEDGEN:1811851", "OMIM:619816", "UMLS:C5676956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030770", "name": "Congenital disorder of deglycosylation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDDG2", "congenital disorder of deglycosylation 2"], "xref": ["DOID:0060990", "GARD:0025635", "MEDGEN:1809253", "OMIM:619775", "UMLS:C5676931"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030781", "name": "Restrictive dermopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RSDM2", "restrictive dermopathy 2", "restrictive dermopathy 2, lethal"], "xref": ["DOID:0070370", "GARD:0025636", "MEDGEN:1801155", "OMIM:619793", "UMLS:C5676942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030785", "name": "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT75", "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly"], "xref": ["DOID:0081234", "GARD:0025637", "MEDGEN:1808159", "OMIM:619827", "UMLS:C5676961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030787", "name": "Spermatogenic failure 71", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF71", "spermatogenic failure 71"], "xref": ["DOID:0070570", "MEDGEN:1801153", "OMIM:619831", "UMLS:C5676963"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030796", "name": "Leukoencephalopathy, hereditary diffuse, with spheroids", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:777989", "OMIMPS:221820", "UMLS:C3711381"]}
{"category": ["biolink:Disease"], "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene.", "id": "MONDO:0030797", "name": "Retinitis pigmentosa 93", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CC2D2A retinitis pigmentosa 93", "RP93", "retinitis pigmentosa 93"], "xref": ["DOID:0061105", "GARD:0025638", "MEDGEN:1810905", "OMIM:619845", "UMLS:C5676970"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.", "id": "MONDO:0030798", "name": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD99", "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"], "xref": ["DOID:0061069", "MEDGEN:1801342", "OMIM:619846", "UMLS:C5676971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030800", "name": "Cholestasis, progressive familial intrahepatic, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC9", "cholestasis, progressive familial intrahepatic, 9"], "xref": ["GARD:0025639", "MEDGEN:1809292", "OMIM:619849", "UMLS:C5676973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030801", "name": "Monosomy 7 myelodysplasia and leukemia syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["M7MLS2", "monosomy 7 myelodysplasia and leukemia syndrome 2"], "xref": ["GARD:0018506", "MEDGEN:1762901", "OMIM:619041", "UMLS:C5436668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030805", "name": "Spinocerebellar ataxia 49", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCA49", "spinocerebellar ataxia 49"], "xref": ["GARD:0025640", "MEDGEN:1805601", "OMIM:619806", "Orphanet:631106", "UMLS:C5676950"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030809", "name": "Spermatogenic failure 72", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF72", "spermatogenic failure 72"], "xref": ["DOID:0070571", "MEDGEN:1803118", "OMIM:619867", "UMLS:C5676980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030810", "name": "Cholestasis, progressive familial intrahepatic, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC10", "cholestasis, progressive familial intrahepatic, 10"], "xref": ["GARD:0025641", "MEDGEN:1807702", "OMIM:619868", "UMLS:C5676981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030813", "name": "Immunodeficiency 101 (varicella zoster virus-specific)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD101", "immunodeficiency 101 (varicella zoster virus-specific)"], "xref": ["DOID:0061071", "MEDGEN:1810668", "OMIM:619872", "UMLS:C5676983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030815", "name": "Cholestasis, progressive familial intrahepatic, 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC11", "cholestasis, progressive familial intrahepatic, 11"], "xref": ["GARD:0025642", "MEDGEN:1807308", "OMIM:619874", "UMLS:C5676985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030818", "name": "Spermatogenic failure 73", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF73", "spermatogenic failure 73"], "xref": ["DOID:0070572", "MEDGEN:1801127", "OMIM:619878", "UMLS:C5676988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030819", "name": "Meckel syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MKS14", "meckel syndrome 14"], "xref": ["GARD:0025643", "MEDGEN:1809650", "OMIM:619879", "UMLS:C5676989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030822", "name": "Renal hypodysplasia/aplasia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RHDA4", "renal hypodysplasia/aplasia 4"], "xref": ["GARD:0025644", "MEDGEN:1808595", "OMIM:619887", "UMLS:C5676993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030827", "name": "Macrothrombocytopenia, isolated, 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MACTHC2", "macrothrombocytopenia, isolated, 2, autosomal dominant"], "xref": ["DOID:0060995", "GARD:0025645", "MEDGEN:1802965", "OMIM:619840", "UMLS:C5676968"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary disease characterized by intestinal obstruction and profound combined immune deficiency.", "id": "MONDO:0030831", "name": "Gastrointestinal defect and immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary multiple intestinal atresia"], "xref": ["GARD:0027932", "MEDGEN:1708537", "OMIMPS:243150", "Orphanet:436252", "UMLS:C5234880"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030835", "name": "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DIGFAN"], "xref": ["MEDGEN:1765507", "OMIM:619090", "UMLS:C5436781"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.", "id": "MONDO:0030837", "name": "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDMILEG, AD", "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant"], "xref": ["GARD:0018535", "MEDGEN:1764121", "OMIM:619092", "UMLS:C5436788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030839", "name": "Thyroid hormone metabolism, abnormal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["THMA2", "thyroid hormone metabolism, abnormal, 2"], "xref": ["MEDGEN:1812066", "OMIM:619855", "UMLS:C5676976"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer.", "id": "MONDO:0030840", "name": "Mismatch repair cancer syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMRCS2", "MSH2-related constitutional mismatch repair deficiency syndrome", "mismatch repair cancer syndrome 2"], "xref": ["GARD:0018362", "MEDGEN:1750327", "OMIM:619096", "UMLS:C5436806"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal", "id": "MONDO:0030841", "name": "Mismatch repair cancer syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMRCS3", "MSH6-related constitutional mismatch repair deficiency syndrome", "mismatch repair cancer syndrome 3"], "xref": ["GARD:0018363", "MEDGEN:1733656", "OMIM:619097", "UMLS:C5436807"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.", "id": "MONDO:0030843", "name": "Mismatch repair cancer syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMRCS4", "PMS2-related constitutional mismatch repair deficiency syndrome", "mismatch repair cancer syndrome 4"], "xref": ["GARD:0018364", "MEDGEN:1745382", "OMIM:619101", "UMLS:C5436817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030844", "name": "Spermatogenic failure 47", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF47", "spermatogenic failure 47"], "xref": ["DOID:0112175", "MEDGEN:1721477", "OMIM:619102", "UMLS:C5436818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030846", "name": "Spermatogenic failure 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPGF48", "spermatogenic failure 48"], "xref": ["DOID:0112176", "GARD:0016420", "MEDGEN:1761843", "OMIM:619108", "UMLS:C5436823"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030847", "name": "Arthrogryposis, distal, type 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA1C", "arthrogryposis, distal, type 1C"], "xref": ["DOID:0112190", "GARD:0016421", "MEDGEN:1722257", "OMIM:619110", "UMLS:C5436834"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030849", "name": "Intellectual developmental disorder with speech delay and axonal peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IDDSAPN"], "xref": ["GARD:0018536", "MEDGEN:1754849", "OMIM:619099", "UMLS:C5436813"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030852", "name": "Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NEDFASB", "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities"], "xref": ["MEDGEN:1777442", "OMIM:619103", "UMLS:C5436821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030854", "name": "Combined osteogenesis imperfecta and ehlers-danlos syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OIEDS Syndrome 1", "OIEDS1", "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"], "xref": ["GARD:0018316", "MEDGEN:1763836", "OMIM:619115", "UMLS:C5436842"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030855", "name": "Combined osteogenesis imperfecta and ehlers-danlos syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OIEDS Syndrome 2", "OIEDS2", "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"], "xref": ["GARD:0018317", "MEDGEN:1751229", "OMIM:619120", "UMLS:C5436847"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030856", "name": "Developmental and epileptic encephalopathy 89", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE89", "developmental and epileptic encephalopathy 89"], "xref": ["DOID:0112223", "GARD:0016424", "MEDGEN:1761611", "OMIM:619124", "UMLS:C5436853"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030858", "name": "Immunodeficiency 75", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMD75", "immunodeficiency 75"], "xref": ["GARD:0018194", "MEDGEN:1741014", "OMIM:619126", "Orphanet:664729", "UMLS:C5436860"]}
{"category": ["biolink:Disease"], "description": "Any COACH syndrome in which the cause of the disease is a mutation in the CC2D2A gene.", "id": "MONDO:0030859", "name": "Coach syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CC2D2A COACH syndrome 2", "COACH2"], "xref": ["GARD:0016422", "MEDGEN:1752166", "OMIM:619111", "UMLS:C5436837"]}
{"category": ["biolink:Disease"], "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.", "id": "MONDO:0030860", "name": "Neuronopathy, distal hereditary motor, type 5c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DHMN5C", "HMN5C", "neuropathy, distal hereditary motor, type VC", "spinal muscular atrophy, distal, type 5C"], "xref": ["DOID:0081401", "GARD:0018268", "MEDGEN:1760720", "OMIM:619112", "UMLS:C5436838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030861", "name": "Osteogenesis imperfecta, type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["OI21", "osteogenesis imperfecta 21", "osteogenesis imperfecta, TYPE XXI"], "xref": ["DOID:0112201", "GARD:0025646", "MEDGEN:1723598", "OMIM:619131", "UMLS:C5436875"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030862", "name": "Coach syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["COACH3"], "xref": ["GARD:0016423", "MEDGEN:1755565", "OMIM:619113", "UMLS:C5436841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030864", "name": "Ritscher-schinzel syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RTSC3", "Ritscher-Schinzel syndrome 3"], "xref": ["GARD:0016426", "MEDGEN:1744611", "OMIM:619135", "UMLS:C5436883"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030866", "name": "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDCASB"], "xref": ["DOID:0070543", "MEDGEN:1750805", "OMIM:619121", "UMLS:C5436848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030867", "name": "Thrombocytopenia 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["THC7", "Thrombocytopenia, Autosomal Dominant, 7", "thrombocytopenia 7"], "xref": ["GARD:0018492", "MEDGEN:1768257", "OMIM:619130", "UMLS:C5436874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030868", "name": "Spermatogenic failure 49", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF49", "spermatogenic failure 49"], "xref": ["DOID:0112271", "MEDGEN:1742668", "OMIM:619144", "UMLS:C5436887"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030869", "name": "Spermatogenic failure 50", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF50", "spermatogenic failures 50"], "xref": ["DOID:0112272", "MEDGEN:1747507", "OMIM:619145", "UMLS:C5436888"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030870", "name": "Premature ovarian failure 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF17", "premature ovarian failure 17"], "xref": ["DOID:0080874", "GARD:0025647", "MEDGEN:1748767", "OMIM:619146", "UMLS:C5436889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030871", "name": "Vertebral hypersegmentation and orofacial anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VHO"], "xref": ["DOID:0070418", "MEDGEN:1746640", "OMIM:619122", "UMLS:C5436851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030872", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTDALS8", "frontotemporal dementia and/or amyotrophic lateral sclerosis 8"], "xref": ["GARD:0018395", "MEDGEN:1728824", "OMIM:619132", "UMLS:C5436881"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030873", "name": "Cardiofacioneurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CFNDS"], "xref": ["MEDGEN:1721861", "OMIM:619123", "UMLS:C5436852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030875", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTDALS5", "frontotemporal dementia and/or amyotrophic lateral sclerosis 5"], "xref": ["GARD:0016427", "MEDGEN:1756201", "OMIM:619141", "UMLS:C5436884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030876", "name": "Cardioacrofacial dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CAFD1", "cardioacrofacial dysplasia 1"], "xref": ["MEDGEN:1777656", "OMIM:619142", "UMLS:C5436885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030877", "name": "Cardioacrofacial dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CAFD2", "cardioacrofacial dysplasia 2", "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism"], "xref": ["MEDGEN:1731253", "OMIM:619143", "UMLS:C5436886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030878", "name": "Kaya-barakat-masson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["KABAMAS"], "xref": ["GARD:0018537", "MEDGEN:1725501", "OMIM:619125", "Orphanet:684240", "UMLS:C5436856"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030880", "name": "Mandibuloacral dysplasia progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MDPS", "mandibuloacral dysplasia associated to MTX2"], "xref": ["GARD:0025648", "MEDGEN:1741713", "OMIM:619127", "Orphanet:647667", "UMLS:C5436867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030881", "name": "Developmental and epileptic encephalopathy 102", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE102", "developmental and epileptic encephalopathy 102"], "xref": ["DOID:0070388", "GARD:0025649", "MEDGEN:1812769", "OMIM:619881", "UMLS:C5676991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030883", "name": "Carpal tunnel syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTS2", "carpal tunnel syndrome 2"], "xref": ["DOID:0070467", "GARD:0025650", "MEDGEN:1725962", "OMIM:619161", "UMLS:C5436916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030885", "name": "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ALS26"], "xref": ["DOID:0081380", "GARD:0016425", "MEDGEN:1771903", "OMIM:619133", "UMLS:C5436882"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030886", "name": "Holoprosencephaly 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPE14", "holoprosencephaly 14"], "xref": ["GARD:0025651", "MEDGEN:1811868", "OMIM:619895", "UMLS:C5676994"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.", "id": "MONDO:0030887", "name": "Cardiomyopathy, dilated, 2g", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD2G", "cardiomyopathy, dilated, 2G"], "xref": ["DOID:0081163", "GARD:0025652", "MEDGEN:1801983", "OMIM:619897", "UMLS:C5676995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030890", "name": "Pontocerebellar hypoplasia, iia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PCH17", "pontocerebellar hypoplasia, IIA 17"], "xref": ["GARD:0025653", "MEDGEN:1809583", "OMIM:619909", "UMLS:C5676999"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030891", "name": "Intellectual developmental disorder, autosomal dominant 66", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRD66", "intellectual developmental disorder, autosomal dominant 66", "mental retardation, autosomal dominant 66"], "xref": ["DOID:0061039", "MEDGEN:1812470", "OMIM:619910", "UMLS:C5677000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030893", "name": "Leukoencephalopathy, progressive, infantile-onset, with or without deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["LEPID"], "xref": ["MEDGEN:1779519", "OMIM:619147", "UMLS:C5542996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030894", "name": "Amed syndrome, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AMED syndrome, digenic", "AMEDS", "AMeD syndrome", "aplastic anemia-intellectual disability-dwarfism syndrome", "bone marrow failure syndrome 7, digenic"], "xref": ["DOID:0080952", "GARD:0018026", "MEDGEN:1754257", "OMIM:619151", "Orphanet:611216", "UMLS:C5436906"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030895", "name": "Nephrotic syndrome, type 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS22", "nephrotic syndrome, type 22"], "xref": ["DOID:0112268", "GARD:0016428", "MEDGEN:1745920", "OMIM:619155", "UMLS:C5436909"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030896", "name": "Chromosome 13q33-q34 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025654", "MEDGEN:1744234", "OMIM:619148", "UMLS:C5436890"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030897", "name": "Lessel-kreienkamp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LESKRES"], "xref": ["GARD:0018538", "MEDGEN:1762595", "OMIM:619149", "UMLS:C5436892"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.", "id": "MONDO:0030898", "name": "Immunodeficiency 76", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD76", "combined immunodeficiency due to FCHO1 deficiency", "immunodeficiency 76", "immunodeficiency due to FCHO1 deficiency"], "xref": ["GARD:0025655", "MEDGEN:1781281", "OMIM:619164", "Orphanet:647804", "UMLS:C5543004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030899", "name": "Oculocutaneous albinism type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OCA8", "oculocutaneous albinism, type 8", "oculocutaneous albinism, type VIII"], "xref": ["GARD:0018017", "MEDGEN:1754121", "OMIM:619165", "Orphanet:597733", "UMLS:C5436929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030900", "name": "Intellectual developmental disorder with paroxysmal dyskinesia or seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IDDPADS"], "xref": ["MEDGEN:1727046", "OMIM:619150", "UMLS:C5436894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030902", "name": "Mitochondrial complex i deficiency, nuclear type 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC1DN36", "mitochondrial complex 1 deficiency, nuclear type 36", "mitochondrial complex I deficiency, nuclear type 36"], "xref": ["GARD:0016431", "MEDGEN:1773965", "OMIM:619170", "UMLS:C5436935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030903", "name": "Hermansky-pudlak syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HPS11"], "xref": ["GARD:0018339", "MEDGEN:1727728", "OMIM:619172", "UMLS:C5436936"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030905", "name": "Hearing loss, autosomal recessive 117", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070671", "GARD:0022665", "MEDGEN:1747842", "OMIM:619174", "UMLS:C5436937"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Trichomonas tenax.", "id": "MONDO:0030906", "name": "Trichomonas tenax infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Trichomonas tenax caused disease or disorder", "Trichomonas tenax disease or disorder"], "xref": ["DOID:0050270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030907", "name": "Intellectual disability, x-linked 106", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked 106, X-linked recessive", "intellectual disability, X-linked 106"], "xref": ["DOID:0080240", "GARD:0025656", "MEDGEN:1389156", "OMIM:300997", "UMLS:C4478379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030908", "name": "Intellectual disability, x-linked, syndromic, 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive", "intellectual disability, X-linked, syndromic, 35"], "xref": ["DOID:0080241", "GARD:0025657", "MEDGEN:1392054", "OMIM:300998", "UMLS:C4478383"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030909", "name": "Intellectual disability, x-linked, syndromic, houge type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked, syndromic, Houge type", "intellectual disability, X-linked, syndromic, Houge type"], "xref": ["DOID:0080242", "GARD:0015282", "MEDGEN:1624740", "OMIM:301008", "UMLS:C4538788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030910", "name": "Intellectual disability, autosomal dominant 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 45"], "xref": ["DOID:0080236", "GARD:0025658", "MEDGEN:1616472", "OMIM:617600", "UMLS:C4539848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030911", "name": "Intellectual disability, autosomal dominant 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 46"], "xref": ["DOID:0080237", "GARD:0025659", "MEDGEN:1618560", "OMIM:617601", "UMLS:C4539851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030912", "name": "Intellectual disability, autosomal dominant 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome", "intellectual disability, autosomal dominant 47"], "xref": ["DOID:0080238", "GARD:0017935", "MEDGEN:1622196", "OMIM:617635", "Orphanet:502434", "UMLS:C4539951"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030913", "name": "Intellectual disability, autosomal dominant 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 48"], "xref": ["DOID:0080235", "GARD:0017924", "MEDGEN:1619532", "OMIM:617751", "Orphanet:500159", "UMLS:C4540321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030914", "name": "Clark-baraitser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Clark-Baraitser syndrome", "MRD49", "intellectual disability, autosomal dominant 49"], "xref": ["DOID:0080234", "GARD:0009994", "MEDGEN:443983", "MESH:C536208", "OMIM:300602", "OMIM:617752", "Orphanet:600731", "UMLS:C2931130"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.", "id": "MONDO:0030915", "name": "Intellectual disability, autosomal recessive 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive 61"], "xref": ["DOID:0080239", "GARD:0025660", "MEDGEN:1622296", "OMIM:617773", "UMLS:C4540424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030916", "name": "Intellectual disability, autosomal dominant 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities", "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities", "intellectual disability, autosomal dominant 50"], "xref": ["DOID:0080233", "GARD:0025661", "MEDGEN:1616989", "OMIM:617787", "UMLS:C4540470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030917", "name": "Intellectual disability, autosomal dominant 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 51"], "xref": ["DOID:0080232", "GARD:0025662", "MEDGEN:1625009", "OMIM:617788", "Orphanet:684226", "UMLS:C4540474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030918", "name": "Intellectual disability, autosomal dominant 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 52"], "xref": ["DOID:0080231", "EFO:0009152", "GARD:0016472", "MEDGEN:1615839", "OMIM:617796", "UMLS:C4540478"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030919", "name": "Intellectual disability, autosomal dominant 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 53"], "xref": ["DOID:0080228", "EFO:0009165", "GARD:0016473", "MEDGEN:1623344", "OMIM:617798", "UMLS:C4540481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030920", "name": "Intellectual disability, autosomal dominant 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 54"], "xref": ["DOID:0080230", "GARD:0016474", "MEDGEN:1614787", "OMIM:617799", "UMLS:C4540484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030921", "name": "Intellectual disability, autosomal dominant 55, with seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal dominant 55, with seizures"], "xref": ["DOID:0080227", "GARD:0016260", "MEDGEN:1635938", "OMIM:617831", "UMLS:C4693371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030922", "name": "Intellectual disability, autosomal dominant 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CLTC-related ID", "CLTC-related disorder", "CLTC-related intellectual disability", "intellectual disability, autosomal dominant 56"], "xref": ["DOID:0080226", "GARD:0013524", "MEDGEN:1638835", "OMIM:617854", "UMLS:C4693389"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030923", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025663", "OMIMPS:105500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030924", "name": "Proteasome-associated autoinflammatory syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRAAS5", "proteasome-associated autoinflammatory syndrome 5"], "xref": ["DOID:0060919", "GARD:0018448", "MEDGEN:1779962", "OMIM:619175", "UMLS:C5543027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030925", "name": "Oocyte maturation defect 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OOMD10", "oocyte maturation defect 10"], "xref": ["GARD:0018500", "MEDGEN:1766720", "OMIM:619176", "UMLS:C5436938"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030926", "name": "Spermatogenic failure 51", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF51", "spermatogenic failure 51"], "xref": ["DOID:0112273", "MEDGEN:1780365", "OMIM:619177", "UMLS:C5543033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030927", "name": "Myofibrillar myopathy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MFM11", "myopathy, congenital, with eccentric cores"], "xref": ["DOID:0081338", "GARD:0025664", "MEDGEN:1782465", "OMIM:619178", "UMLS:C5543038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030928", "name": "Microcephaly 26, primary, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCPH26", "microcephaly 26, primary, autosomal dominant"], "xref": ["DOID:0051037", "GARD:0016432", "MEDGEN:1779629", "OMIM:619179", "UMLS:C5543048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030929", "name": "Microcephaly 27, primary, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCPH27", "microcephaly 27, primary, autosomal dominant"], "xref": ["DOID:0051038", "GARD:0016433", "MEDGEN:1783457", "OMIM:619180", "UMLS:C5543051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030930", "name": "Neurodevelopmental disorder with or without early-onset generalized epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDEGE"], "xref": ["GARD:0018539", "MEDGEN:1737097", "OMIM:619157", "UMLS:C5436914"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030931", "name": "Proteasome-associated autoinflammatory syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRAAS4", "proteasome-associated autoinflammatory syndrome 4"], "xref": ["DOID:0060915", "GARD:0018449", "MEDGEN:1780127", "OMIM:619183", "UMLS:C5543053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030933", "name": "Joubert syndrome 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS37", "Joubert syndrome 37"], "xref": ["GARD:0016434", "MEDGEN:1786742", "OMIM:619185", "UMLS:C5543064"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030934", "name": "Intellectual developmental disorder, autosomal dominant 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRD64", "ZNF292-related neurodevelopmental disorder", "intellectual developmental disorder, autosomal dominant 64", "mental retardation, autosomal dominant 64"], "xref": ["DOID:0061037", "GARD:0016478", "MEDGEN:1784554", "OMIM:619188", "UMLS:C5543067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030935", "name": "Mitochondrial complex 2 deficiency, nuclear type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC2DN2", "mitochondrial complex 2 deficiency, nuclear type 2", "mitochondrial complex II deficiency, nuclear type 2"], "xref": ["GARD:0016429", "MEDGEN:1742371", "OMIM:619166", "UMLS:C5436933"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030936", "name": "Epilepsy, progressive myoclonic, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPM12", "epilepsy, progressive myoclonic, 12"], "xref": ["GARD:0025665", "MEDGEN:1778162", "OMIM:619191", "UMLS:C5543069"]}
{"category": ["biolink:Disease"], "description": "A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.", "id": "MONDO:0030937", "name": "Mitochondrial complex 2 deficiency, nuclear type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC2DN3", "SDHD-related Nuclear type mitochondrial complex II deficiency", "mitochondrial complex 2 deficiency, nuclear type 3", "mitochondrial complex II deficiency, nuclear type 3"], "xref": ["GARD:0016430", "MEDGEN:1751884", "OMIM:619167", "UMLS:C5436934"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030938", "name": "Spermatogenic failure 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SPGF52", "spermatogenic failure 52"], "xref": ["DOID:0112270", "GARD:0016436", "MEDGEN:1785685", "OMIM:619202", "UMLS:C5543094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030939", "name": "Premature ovarian failure 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF18", "premature ovarian failure 18"], "xref": ["DOID:0112269", "GARD:0025666", "MEDGEN:1785989", "OMIM:619203", "UMLS:C5543095"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030941", "name": "Erythrokeratodermia variabilis et progressiva 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EKVP7", "erythrokeratodermia variabilis et progressiva 7"], "xref": ["GARD:0018674", "MEDGEN:1780408", "OMIM:619209", "UMLS:C5543106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030947", "name": "Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CONRIBA", "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities"], "xref": ["DOID:0061189", "GARD:0018023", "MEDGEN:1781967", "OMIM:619173", "Orphanet:610573", "UMLS:C5543020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030953", "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SSFSC2", "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"], "xref": ["DOID:0112358", "MEDGEN:1782253", "OMIM:619184", "UMLS:C5543057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030957", "name": "Developmental and epileptic encephalopathy 103", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE103", "developmental and epileptic encephalopathy 103"], "xref": ["DOID:0070389", "GARD:0025667", "MEDGEN:1809962", "OMIM:619913", "UMLS:C5677002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030958", "name": "Dystonia 35, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DYT35", "dystonia 35, childhood-onset"], "xref": ["DOID:0060955", "GARD:0025668", "MEDGEN:1801185", "OMIM:619921", "UMLS:C5677003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030961", "name": "Olmsted syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OLMS2", "Olmsted syndrome 2", "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2"], "xref": ["GARD:0016437", "MEDGEN:1779902", "OMIM:619208", "UMLS:C5543096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030962", "name": "Nephrotic syndrome, type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NPHS23", "nephrotic syndrome, type 23"], "xref": ["DOID:0112266", "GARD:0016435", "MEDGEN:1787011", "OMIM:619201", "UMLS:C5543092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030963", "name": "Li-campeau syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LICAS"], "xref": ["GARD:0027933", "MEDGEN:1788485", "OMIM:619189", "UMLS:C5543068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030964", "name": "Intellectual developmental disorder, autosomal dominant 67", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRD67", "intellectual developmental disorder, autosomal dominant 67", "mental retardation, autosomal dominant 67"], "xref": ["DOID:0061040", "MEDGEN:1805690", "OMIM:619927", "UMLS:C5677006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030966", "name": "Neurofacioskeletal syndrome with or without renal agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NFSRA", "Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis"], "xref": ["MEDGEN:1778926", "OMIM:619194", "UMLS:C5543070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030967", "name": "Deafness, congenital, and adult-onset progressive leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DEAPLE"], "xref": ["MEDGEN:1784506", "OMIM:619196", "UMLS:C5543087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030968", "name": "Intellectual developmental disorder, autosomal recessive 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT76", "intellectual developmental disorder, autosomal recessive 76", "mental retardation, autosomal recessive 76"], "xref": ["DOID:0081235", "GARD:0025669", "MEDGEN:1808571", "OMIM:619931", "UMLS:C5677007"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030969", "name": "Intellectual developmental disorder, autosomal dominant 68", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRD68", "intellectual developmental disorder, autosomal dominant 68", "mental retardation, autosomal dominant 68"], "xref": ["DOID:0061041", "MEDGEN:1802176", "OMIM:619934", "UMLS:C5677008"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030970", "name": "Immunodeficiency 106, susceptibility to viral infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match"], "synonym": ["IFNAR1 deficiency", "IMD106", "immunodeficiency 106, susceptibility to viral infections"], "xref": ["DOID:0061075", "MEDGEN:1804672", "OMIM:619935", "UMLS:C5677009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030971", "name": "Immunodeficiency 78 with autoimmunity and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD78", "TPP2 deficiency", "immunodeficiency 78 with autoimmunity and developmental delay"], "xref": ["MEDGEN:1785772", "OMIM:619220", "UMLS:C5543159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030972", "name": "Spermatogenic failure 74", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF74", "spermatogenic failure 74"], "xref": ["DOID:0070573", "MEDGEN:1812069", "OMIM:619937", "UMLS:C5677010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030973", "name": "Immunodeficiency 77", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IMD77", "immunodeficiency 77"], "xref": ["MEDGEN:1788976", "OMIM:619223", "UMLS:C5543173"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.", "id": "MONDO:0030974", "name": "Mitochondrial complex 2 deficiency, nuclear type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC2DN4", "SDHB-related Nuclear type mitocondrial complex II deficiency", "mitochondrial complex 2 deficiency, nuclear type 4", "mitochondrial complex II deficiency, nuclear type 4"], "xref": ["GARD:0016438", "MEDGEN:1782861", "OMIM:619224", "UMLS:C5543176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030975", "name": "Premature ovarian failure 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF20", "premature ovarian failure 20"], "xref": ["GARD:0025670", "MEDGEN:1808256", "OMIM:619938", "UMLS:C5677011"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030976", "name": "Oculomotor-abducens synkinesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OCABSN"], "xref": ["MEDGEN:1789067", "OMIM:619215", "UMLS:C5543116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030977", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HMNMYO", "neuropathy, hereditary motor, with myopathic features"], "xref": ["DOID:0081426", "GARD:0018444", "MEDGEN:1786836", "OMIM:619216", "UMLS:C5543119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030978", "name": "Endove syndrome, limb-only type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ENDOVESL", "Mesomelia of Lower Extremities With Hand and Foot Anomalies"], "xref": ["GARD:0018560", "MEDGEN:1787128", "OMIM:619217", "UMLS:C5543128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030979", "name": "Endove syndrome, limb-brain type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ENDOVESLB", "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies"], "xref": ["GARD:0018561", "MEDGEN:1782954", "OMIM:619218", "UMLS:C5543142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030981", "name": "Immunodeficiency 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CD4 Deficiency", "IMD79", "immunodeficiency 79"], "xref": ["DOID:0112277", "GARD:0009523", "MEDGEN:1783683", "OMIM:619238", "UMLS:C5543220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030982", "name": "Sulfide quinone oxidoreductase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SQORD", "sulfide:quinone oxidoreductase deficiency"], "xref": ["GARD:0025671", "MEDGEN:1780603", "OMIM:619221", "UMLS:C5543168"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030983", "name": "Waardenburg syndrome 2f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WS2F"], "xref": ["GARD:0025672", "MEDGEN:1809587", "OMIM:619947", "UMLS:C5677013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030984", "name": "Spermatogenic failure 75", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF75", "spermatogenic failure 75"], "xref": ["DOID:0070574", "MEDGEN:1804291", "OMIM:619949", "UMLS:C5677014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030985", "name": "Premature ovarian failure 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["POF19", "premature ovarian failure 19"], "xref": ["DOID:0112278", "GARD:0025673", "MEDGEN:1779702", "OMIM:619245", "UMLS:C5543229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030986", "name": "Blistering, acantholytic, of oral and laryngeal mucosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ABOLM"], "xref": ["MEDGEN:1785588", "OMIM:619226", "UMLS:C5543184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030987", "name": "Vertebral, cardiac, tracheoesophageal, renal, and limb defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VCTERL", "VCTERL syndrome"], "xref": ["MEDGEN:1788069", "OMIM:619227", "UMLS:C5543189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030988", "name": "Developmental delay with dysmorphic facies and dental anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DEFDA"], "xref": ["MEDGEN:1785587", "OMIM:619228", "UMLS:C5543197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030989", "name": "Spermatogenic failure 53", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF53", "spermatogenic failure 53"], "xref": ["DOID:0112279", "MEDGEN:1787013", "OMIM:619258", "UMLS:C5543253"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030990", "name": "Kohlschutter-tonz syndrome-like", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["KTZSL"], "xref": ["MEDGEN:1781649", "OMIM:619229", "UMLS:C5543202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030991", "name": "Bile acid conjugation defect 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["BACD1"], "xref": ["DOID:0061180", "MEDGEN:1780260", "OMIM:619232", "UMLS:C5543203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030992", "name": "Short stature, oligodontia, dysmorphic facies, and motor delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SOFM"], "xref": ["MEDGEN:1787876", "OMIM:619234", "UMLS:C5543206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030993", "name": "Tessadori-van haaften neurodevelopmental syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TEVANED3", "Tessadori-Van Haaften neurodevelopmental syndrome 3"], "xref": ["MEDGEN:1824083", "OMIM:619950", "UMLS:C5774310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030994", "name": "Neurodevelopmental disorder with or without autism or seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDAUS", "neurodevelopmental disorder with or without autism or seizures"], "xref": ["DOID:0061147", "GARD:0018540", "MEDGEN:1784023", "OMIM:619239", "UMLS:C5543225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030995", "name": "Global developmental delay with speech and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GDSBA"], "xref": ["GARD:0018541", "MEDGEN:1787991", "OMIM:619243", "UMLS:C5543226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030996", "name": "Bleeding disorder, platelet-type, 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT24", "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2", "bleeding disorder, platelet-type, 24", "bleeding disorder, platelet-type, 24, autosomal dominant"], "xref": ["GARD:0018273", "MEDGEN:1785711", "OMIM:619271", "UMLS:C5543280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030997", "name": "Mitochondrial complex i deficiency, nuclear type 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC1DN37", "mitochondrial complex 1 deficiency, nuclear type 37", "mitochondrial complex I deficiency, nuclear type 37"], "xref": ["GARD:0016440", "MEDGEN:1783339", "OMIM:619272", "UMLS:C5543281"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030998", "name": "Hearing loss, autosomal dominant 80", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070602", "GARD:0018158", "MEDGEN:1779667", "OMIM:619274", "UMLS:C5543289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0030999", "name": "Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDCAFD"], "xref": ["GARD:0018542", "MEDGEN:1786662", "OMIM:619244", "UMLS:C5543228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031000", "name": "Tessadori-van haaften neurodevelopmental syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TEVANED4", "Tessadori-Van Haaften neurodevelopmental syndrome 4"], "xref": ["MEDGEN:1804234", "OMIM:619951", "UMLS:C5677016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031001", "name": "Vitreoretinopathy with phalangeal epiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["VPED"], "xref": ["MEDGEN:343940", "MESH:C565179", "OMIM:619248", "UMLS:C1852989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031002", "name": "Baralle-macken syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BARMACS", "neurodevelopmental disorder with cataracts and variable microcephaly"], "xref": ["MEDGEN:1778777", "OMIM:619255", "UMLS:C5543241"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031003", "name": "Hypercholanemia, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FHCA2", "NTCP Deficiency", "hypercholanemia, familial 2"], "xref": ["DOID:0061182", "GARD:0018341", "MEDGEN:1780531", "OMIM:619256", "UMLS:C5543243"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031006", "name": "Neurodegeneration with ataxia and late-onset optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NDAXOA"], "xref": ["GARD:0027269", "MEDGEN:1779901", "OMIM:619259", "UMLS:C5543254"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031007", "name": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SHILCA", "SHILCA syndrome"], "xref": ["DOID:0112290", "GARD:0018025", "MEDGEN:1780157", "OMIM:619260", "Orphanet:611207", "UMLS:C5543257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031008", "name": "Nephrotic syndrome, type 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NPHS24", "idiopathic SRNS", "idiopathic steroid-resistant nephrotic syndrome"], "xref": ["DOID:0061194", "GARD:0018003", "MEDGEN:1781068", "OMIM:619263", "Orphanet:567548", "UMLS:C5543267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031009", "name": "Glanzmann thrombasthenia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GT2", "Glanzmann thrombasthenia 2", "bleeding disorder, platelet-type, 23"], "xref": ["GARD:0016439", "MEDGEN:1782592", "OMIM:619267", "UMLS:C5543273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031010", "name": "Odontochondrodysplasia 2 with hearing loss and diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ODCD2", "ondontochondrodysplasia 2 with hearing loss and diabetes"], "xref": ["GARD:0025674", "MEDGEN:1782909", "OMIM:619269", "UMLS:C5543275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031011", "name": "Neurodevelopmental disorder with dysmorphic facies and variable seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDDFAS"], "xref": ["GARD:0018543", "MEDGEN:1784197", "OMIM:619264", "UMLS:C5543268"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of uveitis (disease).", "id": "MONDO:0031012", "name": "Autoimmune uveitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autoimmune uveitis (disease)"], "xref": ["DOID:0040088", "GARD:0025675", "MEDGEN:1843501", "UMLS:C3888523"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of optic neuritis.", "id": "MONDO:0031013", "name": "Autoimmune optic neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0040089", "GARD:0027934"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.", "id": "MONDO:0031014", "name": "Autoimmune gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["autoimmune gastritis (disease)"], "xref": ["DOID:0040090", "MEDGEN:854482", "NCIT:C95752", "UMLS:C3887639", "icd11.foundation:248006617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031019", "name": "Spastic paraplegia 87, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPG87", "autosomal recessive spastic paraplegia type 87", "spastic paraplegia 87, autosomal recessive"], "xref": ["DOID:0070456", "GARD:0025676", "MEDGEN:1813069", "OMIM:619966", "Orphanet:631088", "UMLS:C5774182"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031021", "name": "Developmental and epileptic encephalopathy 104", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE104", "developmental and epileptic encephalopathy 104"], "xref": ["DOID:0070390", "GARD:0025677", "MEDGEN:1823956", "OMIM:619970", "UMLS:C5774183"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.", "id": "MONDO:0031028", "name": "Developmental and epileptic encephalopathy 105 with hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE105", "developmental and epileptic encephalopathy 105 with hypopituitarism"], "xref": ["DOID:0070391", "GARD:0025678", "MEDGEN:1823963", "OMIM:619983", "UMLS:C5774190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031030", "name": "Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:susceptibility_match"], "synonym": ["IMD107", "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection"], "xref": ["DOID:0061076", "MEDGEN:1823965", "OMIM:619986", "UMLS:C5774192"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031031", "name": "Intellectual developmental disorder, autosomal recessive 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MRT77", "intellectual developmental disorder, autosomal recessive 77"], "xref": ["DOID:0081236", "GARD:0025679", "MEDGEN:1823966", "OMIM:619988", "UMLS:C5774193"]}
{"category": ["biolink:Disease"], "description": "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.", "id": "MONDO:0031037", "name": "Famililal cerebral cavernous malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial brain cavernous angioma", "familial brain cavernous hemangioma", "familial cerebral cavernoma", "familial cerebral cavernous malformation", "famililal cerebral cavernous malformations", "hereditary brain cavernous angioma", "hereditary brain cavernous hemangioma", "hereditary cerebral cavernoma", "hereditary cerebral cavernous malformation"], "xref": ["GARD:0013641", "MEDGEN:419031", "OMIMPS:116860", "Orphanet:221061", "SCTID:717003001", "UMLS:C2931263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031040", "name": "Cholestasis, progressive familial intrahepatic, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PFIC12", "cholestasis, isolated low-ggt", "cholestasis, progressive familial intrahepatic, 12"], "xref": ["GARD:0025680", "MEDGEN:1824084", "OMIM:620010", "UMLS:C5774311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031043", "name": "Lymphatic malformation 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LMPHM12", "central conducting lymphatic anomaly", "lymphatic malformation 12"], "xref": ["DOID:0081030", "GARD:0025681", "MEDGEN:1823976", "OMIM:620014", "UMLS:C5774203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031044", "name": "Advance sleep phase syndrome, familial, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FASPS4", "advance sleep phase syndrome, familial, 4"], "xref": ["DOID:0061006", "GARD:0025682", "MEDGEN:1823977", "OMIM:620015", "UMLS:C5774204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031045", "name": "Arthrogryposis, distal, iia 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DA11", "arthrogryposis, distal, IIa 11"], "xref": ["GARD:0025683", "MEDGEN:1823978", "OMIM:620019", "UMLS:C5774205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031047", "name": "Stickler syndrome, type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["STL6", "Stickler syndrome, type VI"], "xref": ["GARD:0025684", "MEDGEN:1823980", "OMIM:620022", "UMLS:C5774207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031052", "name": "Developmental and epileptic encephalopathy 106", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE106", "developmental and epileptic encephalopathy 106"], "xref": ["DOID:0070392", "GARD:0025685", "MEDGEN:1823985", "OMIM:620028", "UMLS:C5774212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031054", "name": "Ciliary dyskinesia, primary, 48, without situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CILD48", "ciliary dyskinesia, primary, 48, without situs inversus"], "xref": ["GARD:0025686", "MEDGEN:1823987", "OMIM:620032", "UMLS:C5774214"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031055", "name": "Developmental and epileptic encephalopathy 107", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE107", "developmental and epileptic encephalopathy 107"], "xref": ["DOID:0070393", "GARD:0025687", "MEDGEN:1823988", "OMIM:620033", "UMLS:C5774215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031057", "name": "Dyskeratosis congenita, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCD", "dyskeratosis congenita, digenic"], "xref": ["DOID:0060984", "GARD:0025688", "MEDGEN:1823990", "OMIM:620040", "UMLS:C5774217"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031060", "name": "Microcephaly 29, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MCPH29", "microcephaly 29, primary, autosomal recessive"], "xref": ["DOID:0051040", "GARD:0025689", "MEDGEN:1823993", "OMIM:620047", "UMLS:C5774220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031061", "name": "Nephrotic syndrome, iia 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NPHS26", "nephrotic syndrome, IIa 26"], "xref": ["DOID:0061193", "GARD:0027935", "MEDGEN:1823994", "OMIM:620049", "UMLS:C5774221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031062", "name": "Polycystic kidney disease 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PKD7", "polycystic kidney disease 7"], "xref": ["DOID:0060952", "GARD:0025690", "MEDGEN:1823995", "OMIM:620056", "UMLS:C5774222"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031068", "name": "Charcot-marie-tooth disease, axonal, iia 2ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMT2II", "charcot-marie-tooth disease, axonal, IIa 2II", "charcot-marie-tooth neuropathy, IIa 2II"], "xref": ["GARD:0025691", "MEDGEN:1824000", "OMIM:620068", "UMLS:C5774227"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031071", "name": "Diamond-blackfan anemia 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DBA21", "diamond-blackfan anaemia 21", "diamond-blackfan anemia 21"], "xref": ["GARD:0025692", "MEDGEN:1824003", "OMIM:620072", "UMLS:C5774230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031077", "name": "Spermatogenic failure 76", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF76", "spermatogenic failure 76"], "xref": ["DOID:0070575", "MEDGEN:1824009", "OMIM:620084", "UMLS:C5774236"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031083", "name": "Spermatogenic failure 77", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SPGF77", "spermatogenic failure 77"], "xref": ["DOID:0070576", "MEDGEN:1824018", "OMIM:620103", "UMLS:C5774245"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031084", "name": "Amelogenesis imperfecta, iia 1k", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AI1K", "amelogenesis imperfecta, IIa 1K", "amelogenesis imperfecta, hypoplastic IIa 1K"], "xref": ["DOID:0060945", "GARD:0025693", "MEDGEN:1824019", "OMIM:620104", "UMLS:C5774246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031115", "name": "Dyskinesia with orofacial involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADCY5-Related Dyskinesia"], "xref": ["MEDGEN:1859334", "OMIMPS:606703", "UMLS:C5908309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031166", "name": "Macular dystrophy, retinal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070438", "GARD:0025694", "OMIMPS:136550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031169", "name": "Odontochondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025695", "MEDGEN:411198", "OMIMPS:184260", "UMLS:C2745953"]}
{"category": ["biolink:Disease"], "description": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0031199", "name": "Inherited interstitial lung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027936", "OMIMPS:619611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031200", "name": "Bryant-li-bhoj neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051010", "GARD:0027937", "OMIMPS:619720"]}
{"category": ["biolink:Disease"], "description": "A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.", "id": "MONDO:0031213", "name": "Restrictive dermopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["lethal hyperkeratosis-contracture syndrome", "lethal restrictive dermopathy", "lethal tight skin-contracture syndrome"], "xref": ["DOID:0060762", "GARD:0001516", "MEDGEN:98356", "OMIMPS:275210", "Orphanet:1662", "UMLS:C0406585"]}
{"category": ["biolink:Disease"], "description": "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.", "id": "MONDO:0031219", "name": "Mismatch repair cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["constitutional mismatch repair deficiency syndrome"], "xref": ["DOID:0112182", "GARD:0017217", "MEDGEN:78553", "NCIT:C130202", "OMIMPS:276300", "Orphanet:252202", "UMLS:C0265325"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031230", "name": "Mitochondrial complex ii deficiency, nuclear type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025696", "OMIMPS:252011"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031240", "name": "Familial panic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:167870"]}
{"category": ["biolink:Disease"], "description": "A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.", "id": "MONDO:0031257", "name": "High altitude pulmonary edema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021502", "MEDGEN:137935", "Orphanet:330012", "UMLS:C0340100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031280", "name": "Stuve-wiedemann syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:167109", "OMIMPS:601559", "UMLS:C0796176"]}
{"category": ["biolink:Disease"], "description": "A craniofacial malformation with prosencephalic duplication; the presence of three eyes.", "id": "MONDO:0031322", "name": "Triopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0005286", "ICD10CM:Q15.8", "MEDGEN:1836871", "Orphanet:3374", "UMLS:C5816687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031323", "name": "Cardiac valvular defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["OMIMPS:212093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031329", "name": "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081072", "OMIMPS:213980"]}
{"category": ["biolink:Disease"], "description": "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia", "id": "MONDO:0031332", "name": "Glanzmann thrombasthenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["BDPLT2", "Glanzmann thrombasthenia 1", "platelet glycoprotein IIb-IIIa deficiency", "thrombasthenia", "thrombasthenia of Glanzmann and Naegeli"], "xref": ["DOID:2219", "GARD:0015240", "MESH:D013915", "NCIT:C61249", "OMIM:273800", "SCTID:32942005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031376", "name": "Congenital disorder of deglycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060991", "GARD:0025697", "MEDGEN:815321", "OMIMPS:615273", "UMLS:C3808991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031384", "name": "Autoinflammatory syndrome, familial, behcet-like", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025698", "OMIMPS:616744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031386", "name": "Cardioacrofacial dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:619142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031400", "name": "Tessadori-van-haaften neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:619758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031415", "name": "Carey-fineman-ziter syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003889", "MEDGEN:338115", "OMIMPS:254940", "Orphanet:1358", "UMLS:C1850746", "icd11.foundation:1784462638"]}
{"category": ["biolink:Disease"], "description": "A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.", "id": "MONDO:0031421", "name": "Olmsted syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques", "palmoplantar and periorificial keratoderma", "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"], "xref": ["DOID:0112011", "GARD:0004075", "MEDGEN:590661", "MedDRA:10068842", "OMIMPS:614594", "Orphanet:659", "UMLS:C0406761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031422", "name": "Familial mucolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025699", "OMIMPS:256550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031432", "name": "Thyroid hormone metabolism, abnormal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:355288", "OMIMPS:609698", "UMLS:C1864761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031439", "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["OMIMPS:617877"]}
{"category": ["biolink:Disease"], "description": "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.", "id": "MONDO:0031446", "name": "Hypercholanemia, familial 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FHCA1"], "xref": ["DOID:0061181", "GARD:0017173", "MEDGEN:1781366", "MESH:C564336", "OMIM:607748", "Orphanet:238475", "SCTID:723360007", "UMLS:C5542604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031447", "name": "Macrothrombocytopenia, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025700", "OMIMPS:613112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031481", "name": "Microcephaly, epilepsy, and diabetes syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MEDS1", "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"], "xref": ["GARD:0018438", "OMIM:614231", "Orphanet:306558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031520", "name": "Familial severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["GARD:0027938", "OMIMPS:601457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031615", "name": "Familial bent bone dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025701", "OMIMPS:614592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031632", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070476", "MEDGEN:934768", "OMIMPS:616901", "UMLS:C4310801"]}
{"category": ["biolink:Disease"], "id": "MONDO:0031646", "name": "Braddock-carey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:619980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032485", "name": "Intellectual developmental disorder 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0061034", "GARD:0018514", "MEDGEN:1684867", "OMIM:618009", "UMLS:C5231400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032526", "name": "Spinocerebellar ataxia 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111746", "GARD:0025702", "MEDGEN:1648409", "OMIM:618093", "Orphanet:631103", "UMLS:C4748158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032564", "name": "Hennekam lymphangiectasia-lymphedema syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016296", "MEDGEN:1648368", "OMIM:618154", "UMLS:C4748408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032565", "name": "Ophthalmoplegia, external, with rib and vertebral anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648445", "OMIM:618155", "UMLS:C4748418"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032566", "name": "Squalene synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027939", "MEDGEN:1648421", "OMIM:618156", "UMLS:C4748427"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032567", "name": "Isolated growth hormone deficiency, type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["growth hormone deficiency, isolated, type IV"], "xref": ["GARD:0025703", "MEDGEN:1648300", "OMIM:618157", "Orphanet:684247", "UMLS:C4722273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032568", "name": "Intellectual developmental disorder with macrocephaly, seizures, and speech delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648339", "OMIM:618158", "UMLS:C4748428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032569", "name": "Isolated growth hormone deficiency, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pituitary hormone deficiency, combined or isolated, 7"], "xref": ["DOID:0061016", "GARD:0025704", "MEDGEN:1648500", "OMIM:618160", "UMLS:C4748435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032570", "name": "Joubert syndrome 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016297", "MEDGEN:1648453", "OMIM:618161", "UMLS:C4748442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032571", "name": "Spondyloepimetaphyseal dysplasia, krakow type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025705", "MEDGEN:1648323", "OMIM:618162", "UMLS:C4748455"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032572", "name": "Cardiac, facial, and digital anomalies with developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAFDADD", "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "cardiac, facial, and digital anomalies with developmental delay"], "xref": ["MEDGEN:1648330", "NCIT:C179868", "OMIM:618164", "Orphanet:592570", "UMLS:C4748484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032573", "name": "Bone marrow failure syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025706", "MEDGEN:1648380", "OMIM:618165", "UMLS:C4748488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032574", "name": "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648332", "OMIM:618167", "UMLS:C4748496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032575", "name": "Diarrhea 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648425", "OMIM:618168", "UMLS:C4748517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032577", "name": "Retinitis pigmentosa 83", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112140", "GARD:0016298", "MEDGEN:1648404", "OMIM:618173", "UMLS:C4748536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032578", "name": "Cortical dysplasia, complex, with other brain malformations 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDCBM9", "CTNNA2-related lissencephaly spectrum disorder"], "xref": ["DOID:0061138", "MEDGEN:1648399", "OMIM:618174", "UMLS:C4748540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032579", "name": "Warburg-cinotti syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0015007", "MEDGEN:1677486", "OMIM:618175", "UMLS:C5193019"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032580", "name": "Nephrotic syndrome, type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080392", "GARD:0016299", "MEDGEN:1648294", "OMIM:618176", "UMLS:C4748545"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032581", "name": "Nephrotic syndrome, type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080393", "GARD:0016300", "MEDGEN:1648464", "OMIM:618177", "UMLS:C4748549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032582", "name": "Nephrotic syndrome, type 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080394", "GARD:0016301", "MEDGEN:1648305", "OMIM:618178", "UMLS:C4748552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032583", "name": "Microcephaly 24, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051035", "GARD:0016302", "MEDGEN:1648413", "OMIM:618179", "UMLS:C4748555"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032584", "name": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111662", "GARD:0025707", "MEDGEN:1648329", "OMIM:618180", "Orphanet:685067", "UMLS:C4748560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032586", "name": "Diarrhea 10, protein-losing enteropathy type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648311", "OMIM:618183", "UMLS:C4748579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032588", "name": "Periventricular nodular heterotopia 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0061245", "GARD:0016303", "MEDGEN:1648287", "OMIM:618185", "UMLS:C4748602"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032590", "name": "Ovarian dysgenesis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080500", "GARD:0025708", "MEDGEN:1648455", "OMIM:618187", "UMLS:C4748626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032591", "name": "Hyperparathyroidism, transient neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HRPTTN", "hyperparathyroidism, transient neonatal"], "xref": ["GARD:0016304", "MEDGEN:722059", "OMIM:618188", "UMLS:C1300287"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.", "id": "MONDO:0032592", "name": "Cardiomyopathy, dilated, 2c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081159", "GARD:0016305", "MEDGEN:1648379", "OMIM:618189", "UMLS:C4748647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032594", "name": "Intellectual developmental disorder and retinitis pigmentosa; iddrp", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016306", "MEDGEN:1648358", "OMIM:618195", "UMLS:C4748658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032596", "name": "Myasthenic syndrome, congenital, 23, presynaptic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016308", "MEDGEN:1648392", "OMIM:618197", "UMLS:C4748678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032597", "name": "Myasthenic syndrome, congenital, 24, presynaptic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016309", "MEDGEN:1648337", "OMIM:618198", "UMLS:C4748684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032598", "name": "Developmental and epileptic encephalopathy, 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE68", "EIEE68", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68", "developmental and epileptic encephalopathy 68", "epileptic encephalopathy, early infantile, 68"], "xref": ["DOID:0112204", "GARD:0016310", "MEDGEN:1648479", "OMIM:618201", "UMLS:C4748688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032599", "name": "Immunodeficiency 15a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111960", "GARD:0018469", "MEDGEN:1648385", "OMIM:618204", "Orphanet:700205", "UMLS:C4748694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032600", "name": "Snijders blok-campeau syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome", "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies"], "xref": ["DOID:0070668", "GARD:0013806", "MEDGEN:1648495", "OMIM:618205", "Orphanet:599082", "UMLS:C4748701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032601", "name": "Inflammatory bowel disease, immunodeficiency, and encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018000", "MEDGEN:1648434", "OMIM:618213", "Orphanet:565788", "UMLS:C4748708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032603", "name": "Polydactyly, postaxial, type a9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0018177", "MEDGEN:1648428", "OMIM:618219", "UMLS:C4748721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032604", "name": "Retinitis pigmentosa 84", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112141", "GARD:0016311", "MEDGEN:1648352", "OMIM:618220", "UMLS:C4748725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032605", "name": "Intellectual disability, autosomal recessive 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, autosomal recessive 66"], "xref": ["DOID:0081227", "GARD:0022579", "MEDGEN:1648460", "OMIM:618221", "UMLS:C4748732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032606", "name": "Mitochondrial complex i deficiency, nuclear type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112083", "GARD:0016312", "MEDGEN:1648466", "OMIM:618222", "UMLS:C4748737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032607", "name": "Vertebral anomalies and variable endocrine and t-cell dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070345", "MEDGEN:1648299", "OMIM:618223", "UMLS:C4748741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032608", "name": "Mitochondrial complex i deficiency, nuclear type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112093", "GARD:0016313", "MEDGEN:1648346", "OMIM:618224", "UMLS:C4748752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032609", "name": "Mitochondrial complex i deficiency, nuclear type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112082", "GARD:0016314", "MEDGEN:1648324", "OMIM:618225", "UMLS:C4748753"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032610", "name": "Mitochondrial complex i deficiency, nuclear type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112068", "GARD:0016315", "MEDGEN:1648292", "OMIM:618226", "UMLS:C4748754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032611", "name": "Mitochondrial complex i deficiency, nuclear type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112066", "GARD:0016316", "MEDGEN:1648496", "OMIM:618228", "UMLS:C4748759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032612", "name": "Mitochondrial complex i deficiency, nuclear type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112092", "GARD:0016317", "MEDGEN:1648484", "OMIM:618229", "UMLS:C4748760"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032613", "name": "Mitochondrial complex i deficiency, nuclear type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112081", "GARD:0016318", "MEDGEN:1648411", "OMIM:618230", "UMLS:C4748766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032615", "name": "Mitochondrial complex i deficiency, nuclear type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112073", "GARD:0016319", "MEDGEN:1648447", "OMIM:618232", "UMLS:C4748767"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032616", "name": "Mitochondrial complex i deficiency, nuclear type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112075", "GARD:0016320", "MEDGEN:1648426", "OMIM:618233", "UMLS:C4748768"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032617", "name": "Mitochondrial complex i deficiency, nuclear type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112089", "GARD:0016321", "MEDGEN:1648356", "OMIM:618234", "UMLS:C4748769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032618", "name": "Mitochondrial complex i deficiency, nuclear type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112076", "GARD:0018371", "MEDGEN:1648370", "OMIM:618235", "UMLS:C4748770"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032619", "name": "Mitochondrial complex i deficiency, nuclear type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112094", "GARD:0016322", "MEDGEN:1648440", "OMIM:618236", "UMLS:C4748777"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032620", "name": "Mitochondrial complex i deficiency, nuclear type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112077", "GARD:0016323", "MEDGEN:1648320", "OMIM:618237", "UMLS:C4748778"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032621", "name": "Mitochondrial complex i deficiency, nuclear type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112096", "GARD:0016324", "MEDGEN:1648351", "OMIM:618238", "UMLS:C4748785"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032622", "name": "Mitochondrial complex i deficiency, nuclear type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112078", "GARD:0018372", "MEDGEN:1648418", "OMIM:618239", "UMLS:C4748786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032623", "name": "Mitochondrial complex i deficiency, nuclear type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112070", "GARD:0016325", "MEDGEN:1648321", "OMIM:618240", "UMLS:C4748790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032624", "name": "Mitochondrial complex i deficiency, nuclear type 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112085", "GARD:0016326", "MEDGEN:1648450", "OMIM:618241", "UMLS:C4748791"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032625", "name": "Mitochondrial complex i deficiency, nuclear type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112088", "GARD:0016327", "MEDGEN:1648383", "OMIM:618242", "UMLS:C4748792"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032626", "name": "Mitochondrial complex i deficiency, nuclear type 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112069", "GARD:0018373", "MEDGEN:1648347", "OMIM:618243", "UMLS:C4748796"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032627", "name": "Mitochondrial complex i deficiency, nuclear type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112087", "GARD:0018374", "MEDGEN:1648408", "OMIM:618244", "UMLS:C4748799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032628", "name": "Mitochondrial complex i deficiency, nuclear type 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112079", "GARD:0016328", "MEDGEN:1648364", "OMIM:618245", "UMLS:C4748803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032629", "name": "Mitochondrial complex i deficiency, nuclear type 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112067", "GARD:0016329", "MEDGEN:1648366", "OMIM:618246", "UMLS:C4748806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032630", "name": "Mitochondrial complex i deficiency, nuclear type 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112086", "GARD:0025709", "MEDGEN:1648283", "OMIM:618247", "UMLS:C4748809"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032631", "name": "Mitochondrial complex i deficiency, nuclear type 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112090", "GARD:0018375", "MEDGEN:1648481", "OMIM:618248", "UMLS:C4748826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032632", "name": "Mitochondrial complex i deficiency, nuclear type 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112095", "GARD:0018376", "MEDGEN:1648493", "OMIM:618249", "UMLS:C4748827"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032633", "name": "Mitochondrial complex i deficiency, nuclear type 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112084", "GARD:0016330", "MEDGEN:1648451", "OMIM:618250", "UMLS:C4748830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032634", "name": "Mitochondrial complex i deficiency, nuclear type 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112071", "GARD:0016331", "MEDGEN:1648395", "OMIM:618251", "UMLS:C4748838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032635", "name": "Mitochondrial complex i deficiency, nuclear type 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112080", "GARD:0018067", "MEDGEN:1648336", "OMIM:618252", "UMLS:C4748839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032636", "name": "Mitochondrial complex i deficiency, nuclear type 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112097", "GARD:0016332", "MEDGEN:1648420", "OMIM:618253", "UMLS:C4748840"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032637", "name": "Ciliary dyskinesia, primary, 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111854", "GARD:0025710", "MEDGEN:1648363", "OMIM:618254", "UMLS:C4748841"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032639", "name": "Hearing loss, autosomal recessive 112", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111637", "GARD:0018377", "MEDGEN:1648378", "OMIM:618257", "UMLS:C4748855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032641", "name": "Mirror movements 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070638", "GARD:0016333", "MEDGEN:1648342", "OMIM:618264", "UMLS:C4748869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032642", "name": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018001", "MEDGEN:1648372", "OMIM:618265", "Orphanet:565858", "UMLS:C4748872"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032643", "name": "Pontocerebellar hypoplasia, type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COASY-related pontocerebellar hypoplasia", "PCH12", "PONTOCEREBELLAR HYPOPLASIA, TYPE 12"], "xref": ["DOID:0112327", "GARD:0018030", "MEDGEN:1648343", "OMIM:618266", "Orphanet:611256", "UMLS:C4748873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032645", "name": "Trichohepatoneurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648322", "OMIM:618268", "UMLS:C4748898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032646", "name": "Congenital anomalies of kidney and urinary tract 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025711", "MEDGEN:1648427", "OMIM:618270", "UMLS:C4748921"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032648", "name": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111403", "MEDGEN:1648439", "OMIM:618273", "UMLS:C4748927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032649", "name": "Hypotrichosis 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080582", "GARD:0016335", "MEDGEN:1648477", "OMIM:618275", "UMLS:C4748930"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032650", "name": "Neurodegeneration, childhood-onset, with cerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CONDCA"], "xref": ["GARD:0027270", "MEDGEN:1648286", "OMIM:618276", "UMLS:C4748934"]}
{"category": ["biolink:Disease"], "description": "Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction.", "id": "MONDO:0032651", "name": "Fibrosis, neurodegeneration, and cerebral angiomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FINCA", "FINCA syndrome", "fibrosis-neurodegeneration-cerebral angiomatosis syndrome"], "xref": ["GARD:0027940", "MEDGEN:1648312", "OMIM:618278", "Orphanet:621758", "UMLS:C4748939"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032653", "name": "Cardiac-urogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CARDIAC-UROGENITAL SYNDROME", "CUGS"], "xref": ["GARD:0025712", "MEDGEN:1648333", "OMIM:618280", "Orphanet:647811", "UMLS:C4748946"]}
{"category": ["biolink:Disease"], "description": "A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.", "id": "MONDO:0032654", "name": "Hyper-ige recurrent infection syndrome 3, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AR-HIES due to ZNF341 deficiency", "Autosomal recessive HIES due to ZNF341 deficiency", "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency", "HIES3", "autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency"], "xref": ["DOID:0080595", "GARD:0025713", "MEDGEN:1648483", "OMIM:618282", "Orphanet:641368", "UMLS:C4748969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032655", "name": "Visual impairment and progressive phthisis bulbi", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070356", "MEDGEN:1648430", "OMIM:618283", "UMLS:C4748978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032656", "name": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648355", "OMIM:618284", "UMLS:C4748984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032657", "name": "Developmental and epileptic encephalopathy, 69", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE69", "EIEE69", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69", "developmental and epileptic encephalopathy 69", "epileptic encephalopathy, early infantile, 69"], "xref": ["DOID:0112205", "GARD:0025714", "MEDGEN:1648381", "OMIM:618285", "UMLS:C4748988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032658", "name": "Macrocephaly, acquired, with impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648471", "OMIM:618286", "UMLS:C4748993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032659", "name": "Mucocutaneous ulceration, chronic", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1648375", "OMIM:618287", "UMLS:C4748997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032660", "name": "Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant"], "xref": ["DOID:0070350", "GARD:0025715", "MEDGEN:1648362", "OMIM:618291", "UMLS:C4749003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032661", "name": "Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018515", "MEDGEN:1648291", "OMIM:618292", "UMLS:C4749014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032662", "name": "Intellectual developmental disorder, autosomal recessive 67", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081228", "GARD:0025716", "MEDGEN:1648350", "OMIM:618295", "UMLS:C4749019"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032663", "name": "Developmental and epileptic encephalopathy, 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE70", "EIEE70", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70", "developmental and epileptic encephalopathy 70", "epileptic encephalopathy, early infantile, 70"], "xref": ["DOID:0112206", "GARD:0016336", "MEDGEN:1648407", "OMIM:618298", "UMLS:C4749023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032664", "name": "Ciliary dyskinesia, primary, 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111853", "GARD:0025717", "MEDGEN:1648365", "OMIM:618300", "UMLS:C4749028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032665", "name": "Intellectual developmental disorder, autosomal recessive 68", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081229", "GARD:0025718", "MEDGEN:1648490", "OMIM:618302", "UMLS:C4749033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032668", "name": "Diamond-blackfan anemia 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111896", "GARD:0016338", "MEDGEN:1681154", "OMIM:618310", "UMLS:C5193020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032669", "name": "Diamond-blackfan anemia 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111886", "GARD:0016339", "MEDGEN:1683070", "OMIM:618312", "UMLS:C5193021"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032670", "name": "Diamond-blackfan anemia 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111891", "GARD:0016340", "MEDGEN:1674961", "OMIM:618313", "UMLS:C5193022"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.", "id": "MONDO:0032672", "name": "Intellectual developmental disorder with cardiac defects and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome", "intellectual developmental disorder with cardiac defects and dysmorphic facies"], "xref": ["GARD:0017998", "MEDGEN:1675627", "OMIM:618316", "Orphanet:562569", "UMLS:C5193024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032673", "name": "Basal ganglia calcification, idiopathic, 7, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025719", "MEDGEN:1683911", "OMIM:618317", "UMLS:C5193025"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032675", "name": "Myasthenic syndrome, congenital, 25, presynaptic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myasthenic syndrome, congenital, 25"], "xref": ["GARD:0016341", "MEDGEN:1683288", "OMIM:618323", "UMLS:C5193027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032677", "name": "Lissencephaly 9 with complex brainstem malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112228", "GARD:0018007", "MEDGEN:1681109", "OMIM:618325", "Orphanet:572013", "UMLS:C5193029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032678", "name": "Developmental and epileptic encephalopathy, 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEE71", "EIEE71", "developmental and epileptic encephalopathy 71", "epileptic encephalopathy, early infantile, 71", "neonatal epileptic encephalopathy due to glutaminase deficiency"], "xref": ["DOID:0112207", "GARD:0017994", "MEDGEN:1680812", "OMIM:618328", "Orphanet:557064", "UMLS:C5193030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032679", "name": "Combined oxidative phosphorylation deficiency 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111499", "GARD:0025720", "MEDGEN:1675208", "OMIM:618329", "UMLS:C5193031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032680", "name": "Global developmental delay with or without impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0016477", "MEDGEN:1675328", "OMIM:618330", "UMLS:C5193032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032681", "name": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1682670", "OMIM:618331", "UMLS:C5193033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032684", "name": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMAGE-I syndrome"], "xref": ["GARD:0025721", "MEDGEN:1684464", "OMIM:618336", "UMLS:C5193036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032685", "name": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"], "xref": ["DOID:0061156", "MEDGEN:1673640", "OMIM:618339", "UMLS:C5193037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032686", "name": "Spermatogenic failure 35", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111914", "MEDGEN:1679765", "OMIM:618341", "UMLS:C5193038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032687", "name": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081265", "GARD:0018516", "MEDGEN:1675423", "OMIM:618342", "UMLS:C5193039"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032688", "name": "Polymicrogyria with or without vascular-type ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["polymicrogyria with or without vascular-type EDS", "vascular Ehlers-Danlos-polymicrogyria syndrome"], "xref": ["GARD:0025722", "MEDGEN:1675672", "OMIM:618343", "Orphanet:636941", "UMLS:C5193040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032689", "name": "Retinitis pigmentosa 85", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112142", "GARD:0016342", "MEDGEN:1682947", "OMIM:618345", "UMLS:C5193041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032690", "name": "Microcephaly, growth deficiency, seizures, and brain malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081051", "MEDGEN:1676229", "OMIM:618346", "UMLS:C5193042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032691", "name": "Galloway-mowat syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016343", "MEDGEN:1674560", "OMIM:618347", "UMLS:C5193043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032692", "name": "Galloway-mowat syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016344", "MEDGEN:1679283", "OMIM:618348", "UMLS:C5193044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032693", "name": "Galloway-mowat syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016345", "MEDGEN:1675829", "OMIM:618349", "UMLS:C5193045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032694", "name": "Microcephaly 25, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051036", "GARD:0016346", "MEDGEN:1674123", "OMIM:618351", "UMLS:C5193046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032696", "name": "Oocyte maturation defect 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1682649", "OMIM:618353", "UMLS:C5193047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032697", "name": "Houge-janssens syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDLBA", "neurodevelopmental disorder and language delay with or without structural brain abnormalities"], "xref": ["MEDGEN:1677130", "OMIM:618354", "UMLS:C5193048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032698", "name": "Neurodevelopmental disorder with central and peripheral motor dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1674767", "OMIM:618356", "UMLS:C5193049"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.", "id": "MONDO:0032702", "name": "Coffin-siris syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SMARCC2-related BAFopathy"], "xref": ["DOID:0112367", "GARD:0016347", "MEDGEN:1679527", "OMIM:618362", "UMLS:C5193054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032703", "name": "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025723", "MEDGEN:1676818", "OMIM:618363", "UMLS:C5193055"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032705", "name": "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["5,10-methenyltetrahydrofolate synthetase deficiency", "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "NEDMEHM", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION"], "xref": ["GARD:0018018", "MEDGEN:1684142", "OMIM:618367", "Orphanet:597874", "UMLS:C5193057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032706", "name": "Spinocerebellar ataxia, autosomal recessive 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111616", "GARD:0025724", "MEDGEN:1672866", "OMIM:618369", "UMLS:C5193058"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032707", "name": "Turnpenny-fry syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027364", "MEDGEN:1683283", "OMIM:618371", "Orphanet:688642", "UMLS:C5193060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032710", "name": "Developmental and epileptic encephalopathy, 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE72", "EIEE72", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72", "developmental and epileptic encephalopathy 72", "epileptic encephalopathy, early infantile, 72"], "xref": ["DOID:0112208", "GARD:0025725", "MEDGEN:1681879", "OMIM:618374", "UMLS:C5193063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032712", "name": "Combined oxidative phosphorylation deficiency 38", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111466", "GARD:0025726", "MEDGEN:1682102", "OMIM:618378", "UMLS:C5193064"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032714", "name": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018019", "MEDGEN:1679105", "OMIM:618381", "Orphanet:598603", "UMLS:C5193066"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032715", "name": "Intellectual developmental disorder, autosomal recessive 69", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0081230", "GARD:0025727", "MEDGEN:1676539", "OMIM:618383", "Orphanet:699835", "UMLS:C5193067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032716", "name": "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["acute reversible leukoencephalopathy due to SLC13A3 deficiency", "acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency", "acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"], "xref": ["GARD:0018035", "MEDGEN:1677730", "OMIM:618384", "Orphanet:615964", "UMLS:C5193068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032717", "name": "Amelogenesis imperfecta, type 3c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111722", "GARD:0025728", "MEDGEN:1676410", "OMIM:618386", "UMLS:C5193069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032721", "name": "Spondyloepiphyseal dysplasia, kondo-fu type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112283", "GARD:0025729", "MEDGEN:1683128", "NORD:2027", "OMIM:618392", "UMLS:C5193071"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032723", "name": "Immunodeficiency 60", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["immunodeficiency 60 and autoimmunity"], "xref": ["DOID:0111954", "MEDGEN:1681890", "OMIM:618394", "UMLS:C5193072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032724", "name": "Spondyloepimetaphyseal dysplasia with joint laxity, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SEMDJL3", "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type"], "xref": ["DOID:0112200", "GARD:0016348", "MEDGEN:1677378", "OMIM:618395", "Orphanet:642085", "UMLS:C5193073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032725", "name": "Developmental and epileptic encephalopathy, 74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE74", "EIEE74", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74", "developmental and epileptic encephalopathy 74", "epileptic encephalopathy, early infantile, 74"], "xref": ["DOID:0112210", "GARD:0016349", "MEDGEN:1680535", "OMIM:618396", "UMLS:C5193074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032726", "name": "Combined oxidative phosphorylation deficiency 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111475", "GARD:0017999", "MEDGEN:1683958", "OMIM:618397", "Orphanet:565624", "UMLS:C5193075"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032728", "name": "Charcot-marie-tooth disease, axonal, type 2ee", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111559", "GARD:0025730", "MEDGEN:1677426", "OMIM:618400", "UMLS:C5193076"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032729", "name": "Intellectual developmental disorder, autosomal recessive 70", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081231", "GARD:0022580", "MEDGEN:1679317", "OMIM:618402", "UMLS:C5193077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032730", "name": "Leukodystrophy, hypomyelinating, 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070399", "GARD:0025731", "MEDGEN:1680067", "OMIM:618404", "UMLS:C5193078"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032732", "name": "Hearing loss, autosomal recessive 113", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111636", "GARD:0018152", "MEDGEN:1674289", "OMIM:618410", "UMLS:C5193079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032733", "name": "Global developmental delay, progressive ataxia, and elevated glutamine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1680160", "OMIM:618412", "UMLS:C5193080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032735", "name": "Cataract 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070354", "GARD:0016350", "MEDGEN:1684457", "OMIM:618415", "UMLS:C5193082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032736", "name": "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1681269", "OMIM:618416", "UMLS:C5193083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032737", "name": "Spastic paraplegia 80, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT", "SPG80", "autosomal dominant spastic paraplegia type 80"], "xref": ["DOID:0112341", "GARD:0025732", "MEDGEN:1682111", "OMIM:618418", "Orphanet:631068", "UMLS:C5193084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032738", "name": "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY", "KENNERKNECHT syndrome", "Kennerknecht syndrome", "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations", "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations"], "xref": ["MEDGEN:1679397", "OMIM:600908", "OMIM:618419", "UMLS:C5193085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032739", "name": "Spermatogenic failure 36", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111921", "MEDGEN:1678385", "OMIM:618420", "UMLS:C5193086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032740", "name": "Hearing loss, autosomal recessive 100", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111638", "GARD:0022660", "MEDGEN:1682525", "OMIM:618422", "UMLS:C5193087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032741", "name": "Neurodevelopmental disorder with impaired speech and hyperkinetic movements", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1681181", "OMIM:618425", "UMLS:C5193088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032744", "name": "Spermatogenic failure 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111927", "GARD:0018408", "MEDGEN:1677534", "OMIM:618429", "UMLS:C5193091"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity.", "id": "MONDO:0032745", "name": "Developmental delay with variable intellectual impairment and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["DDVIBA", "TCF20-related disorder", "TCF20-related syndrome", "developmental delay with variable intellectual impairment and behavioral abnormalities"], "xref": ["GARD:0018517", "MEDGEN:1676192", "OMIM:618430", "UMLS:C5193092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032746", "name": "Hydatidiform mole, recurrent, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018367", "MEDGEN:1677775", "OMIM:618431", "UMLS:C5193093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032747", "name": "Hydatidiform mole, recurrent, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018368", "MEDGEN:1677210", "OMIM:618432", "UMLS:C5193094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032748", "name": "Spermatogenic failure 38", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111919", "GARD:0018409", "MEDGEN:1680356", "OMIM:618433", "UMLS:C5193095"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032749", "name": "Hearing loss, autosomal recessive 94", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111641", "GARD:0022661", "MEDGEN:1679077", "OMIM:618434", "UMLS:C5193096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032750", "name": "Arthrogryposis, distal, type 2b2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DA2B2", "arthrogryposis, distal, type 2B2"], "xref": ["DOID:0111601", "GARD:0016351", "MEDGEN:1674500", "OMIM:618435", "UMLS:C5193097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032751", "name": "Arthrogryposis, distal, type 2b3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DA2B3", "arthrogryposis, distal, type 2B3", "arthrogryposis, distal, type 2B3 (Sheldon-Hall)"], "xref": ["DOID:0111602", "GARD:0025733", "MEDGEN:1676839", "OMIM:618436", "UMLS:C5193098"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032752", "name": "Developmental and epileptic encephalopathy, 75", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE75", "EIEE75", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75", "developmental and epileptic encephalopathy 75", "epileptic encephalopathy, early infantile, 75"], "xref": ["DOID:0112211", "GARD:0016352", "MEDGEN:1684253", "OMIM:618437", "UMLS:C5193099"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032753", "name": "Spastic ataxia 9, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025734", "MEDGEN:1680026", "OMIM:618438", "UMLS:C5193100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032755", "name": "Neurodevelopmental disorder with or without variable brain abnormalities; nedba", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027941", "MEDGEN:1675664", "OMIM:618443", "UMLS:C5193102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032756", "name": "Long qt syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0110649", "GARD:0025735", "OMIM:618447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032757", "name": "Ciliary dyskinesia, primary, 41", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111858", "GARD:0016353", "MEDGEN:1680404", "OMIM:618449", "UMLS:C5193103"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032758", "name": "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NDCAMA"], "xref": ["GARD:0027271", "MEDGEN:1676579", "OMIM:618451", "UMLS:C5193104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032759", "name": "Intellectual developmental disorder with short stature and variable skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1680968", "OMIM:618453", "UMLS:C5193105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032760", "name": "Developmental delay with or without dysmorphic facies and autism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1679263", "OMIM:618454", "UMLS:C5193106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032761", "name": "Hearing loss, autosomal recessive 114", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111642", "GARD:0022662", "MEDGEN:1684024", "OMIM:618456", "UMLS:C5193107"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032762", "name": "Hearing loss, autosomal recessive 115", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111643", "GARD:0025736", "MEDGEN:1681630", "OMIM:618457", "UMLS:C5193108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032763", "name": "Immunodeficiency 62", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 62"], "xref": ["DOID:0111991", "MEDGEN:1673905", "OMIM:618459", "Orphanet:696942", "UMLS:C5193109"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032764", "name": "Khan-khan-katsanis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1682553", "OMIM:618460", "UMLS:C5193110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032765", "name": "Bleeding disorder, platelet-type, 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025737", "MEDGEN:1673822", "OMIM:618462", "UMLS:C5193111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032766", "name": "Hypoalphalipoproteinemia, primary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2", "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding"], "xref": ["DOID:0080958", "GARD:0025738", "MEDGEN:1789263", "OMIM:618463", "UMLS:C5551172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032767", "name": "Pheochromocytoma/paraganglioma syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["paragangliomas 6", "pheochromocytoma/paraganglioma syndrome 6"], "xref": ["DOID:0061221", "GARD:0016354", "MEDGEN:1681559", "OMIM:618464", "UMLS:C5193112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032768", "name": "Developmental and epileptic encephalopathy, 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE76", "EIEE76", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76", "developmental and epileptic encephalopathy 76", "epileptic encephalopathy, early infantile, 76"], "xref": ["DOID:0112212", "GARD:0016355", "MEDGEN:1673011", "OMIM:618468", "UMLS:C5193113"]}
{"category": ["biolink:Disease"], "description": "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.", "id": "MONDO:0032770", "name": "Intellectual developmental disorder with severe speech and ambulation defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACTL6B-related BAFopathy"], "xref": ["GARD:0018518", "MEDGEN:1682234", "OMIM:618470", "UMLS:C5193115"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032771", "name": "Pheochromocytoma/paraganglioma syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["paragangliomas 7", "pheochromocytoma/paraganglioma syndrome 7"], "xref": ["DOID:0061222", "GARD:0016356", "MEDGEN:1673088", "OMIM:618475", "UMLS:C5193116"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032772", "name": "Brain abnormalities, neurodegeneration, and dysosteosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1678789", "OMIM:618476", "UMLS:C5193117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032773", "name": "Uridine-cytidineuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["uridine-cytidineuria"], "xref": ["GARD:0025739", "MEDGEN:1681582", "OMIM:618477", "UMLS:C4760647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032774", "name": "Cerebellar, ocular, craniofacial, and genital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1680057", "OMIM:618479", "UMLS:C5193118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032775", "name": "Neurodevelopmental disorder with seizures and speech and walking impairment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deoxyhypusine synthase disorder"], "xref": ["MEDGEN:1672912", "OMIM:618480", "UMLS:C5193119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032776", "name": "Hearing loss, autosomal recessive 99", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111634", "GARD:0022663", "MEDGEN:1678930", "OMIM:618481", "UMLS:C4760579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032777", "name": "Generalized epilepsy with febrile seizures plus, type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111296", "GARD:0018671", "MEDGEN:1676426", "OMIM:618482", "UMLS:C5193120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032778", "name": "Arthrogryposis multiplex congenita 3, myogenic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AMCM", "arthrogryposis multiplex congenita, myogenic type"], "xref": ["DOID:0080979", "GARD:0025740", "MEDGEN:1680655", "OMIM:618484", "UMLS:C5193121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032779", "name": "Neurodevelopmental disorder with microcephaly and structural brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1677276", "OMIM:618492", "Orphanet:699844", "UMLS:C5193123"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032780", "name": "Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025741", "MEDGEN:1672905", "OMIM:618493", "Orphanet:656273", "UMLS:C5193124"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032781", "name": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027942", "MEDGEN:1674629", "OMIM:618494", "UMLS:C5193125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032782", "name": "Immunodeficiency 63 with lymphoproliferation and autoimmunity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111997", "MEDGEN:1682943", "OMIM:618495", "UMLS:C5193126"]}
{"category": ["biolink:Disease"], "description": "Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.", "id": "MONDO:0032783", "name": "Aortic valve disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080977", "GARD:0025742", "MEDGEN:1681142", "OMIM:618496", "UMLS:C5193127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032784", "name": "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1678038", "OMIM:618497", "UMLS:C5193128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032785", "name": "Polydactyly, postaxial, type a10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0018178", "MEDGEN:1676955", "OMIM:618498", "UMLS:C5193129"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032786", "name": "Noonan syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112169", "GARD:0016357", "MEDGEN:1681177", "NCIT:C177119", "OMIM:618499", "UMLS:C5193130"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032787", "name": "Holoprosencephaly 12 with or without pancreatic agenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["holoprosencephaly 12, with or without pancreatic agenesis"], "xref": ["DOID:0081398", "GARD:0025743", "MEDGEN:1684550", "OMIM:618500", "UMLS:C5193131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032788", "name": "Cerebellar atrophy with seizures and variable developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1683734", "OMIM:618501", "UMLS:C5193132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032789", "name": "Intellectual developmental disorder, autosomal recessive 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081232", "GARD:0025744", "MEDGEN:1673448", "OMIM:618504", "UMLS:C5193133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032790", "name": "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0081443", "MEDGEN:1682403", "OMIM:618505", "UMLS:C5193134"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032791", "name": "Coffin-siris syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112371", "GARD:0016358", "MEDGEN:1683634", "OMIM:618506", "UMLS:C4760583"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032792", "name": "Neuropathy, hereditary motor and sensory, type vic, with optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMT 6C", "CMT6C", "Charcot-Marie-Tooth Disease, Type 6C", "HMSN 6C", "HMSN6C", "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"], "xref": ["GARD:0025745", "MEDGEN:1680245", "OMIM:618511", "UMLS:C5193137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032793", "name": "O'donnell-luria-rodan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["O'Donnell-Luria-Rodan syndrome"], "xref": ["GARD:0027943", "MEDGEN:1677602", "OMIM:618512", "UMLS:C5193138"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032794", "name": "Leber congenital amaurosis 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081169", "GARD:0016359", "MEDGEN:1679297", "OMIM:618513", "UMLS:C5193139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032795", "name": "Intellectual developmental disorder 59", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder 59"], "xref": ["DOID:0061033", "GARD:0025746", "MEDGEN:1678593", "OMIM:618522", "UMLS:C5193190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032796", "name": "Hyper-ige recurrent infection syndrome 4, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hyper-IgE recurrent infection syndrome 4B, autosomal recessive"], "xref": ["DOID:0080596", "GARD:0025747", "MEDGEN:1673363", "OMIM:618523", "UMLS:C5193141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032797", "name": "Myopathy, congenital, with tremor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081348", "GARD:0025748", "MEDGEN:1684886", "OMIM:618524", "UMLS:C5231401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032798", "name": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"], "xref": ["MEDGEN:1682428", "OMIM:618527", "UMLS:C5193147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032799", "name": "Mitochondrial dna depletion syndrome 16 (hepatic type)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070446", "GARD:0025749", "MEDGEN:1684495", "OMIM:618528", "UMLS:C5193142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032800", "name": "Robinow syndrome, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060974", "GARD:0025750", "MEDGEN:1676687", "OMIM:618529", "UMLS:C5193143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032801", "name": "Erythrokeratodermia variabilis et progressiva 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080766", "GARD:0018672", "MEDGEN:1681026", "OMIM:618531", "UMLS:C5193144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032802", "name": "Hearing loss, autosomal dominant 37", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070601", "GARD:0025751", "MEDGEN:1676950", "OMIM:618533", "UMLS:C4760307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032803", "name": "Immunodeficiency 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111980", "GARD:0016360", "MEDGEN:1684716", "OMIM:618534", "Orphanet:664699", "UMLS:C5231402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032804", "name": "Ectodermal dysplasia 15, hypohidrotic/hair type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111651", "GARD:0016361", "MEDGEN:1680605", "OMIM:618535", "UMLS:C5193145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032805", "name": "Hypopigmentation, organomegaly, and delayed myelination and development", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684826", "OMIM:618541", "UMLS:C5203300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032806", "name": "Trichothiodystrophy 7, nonphotosensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111870", "GARD:0016362", "MEDGEN:1684762", "NCIT:C173102", "OMIM:618546", "UMLS:C5231403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032807", "name": "Neurodevelopmental disorder with visual defects and brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684774", "OMIM:618547", "UMLS:C5231404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032808", "name": "Developmental and epileptic encephalopathy, 77", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE77", "EIEE77", "epileptic encephalopathy, early infantile, 77", "multiple congenital anomalies-hypotonia-seizures syndrome 4"], "xref": ["DOID:0112213", "GARD:0016363", "MEDGEN:1684735", "OMIM:618548", "UMLS:C5231405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032810", "name": "Oocyte maturation defect 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684736", "OMIM:618550", "UMLS:C5231407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032811", "name": "Night blindness, congenital stationary, type1i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CSNB1I", "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I", "night blindness, congenital stationary, type 1I"], "xref": ["GARD:0016364", "MEDGEN:1684817", "OMIM:618555", "UMLS:C5231408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032812", "name": "Developmental and epileptic encephalopathy, 78", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE78", "EIEE78", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78", "developmental and epileptic encephalopathy 78", "epileptic encephalopathy, early infantile, 78"], "xref": ["DOID:0112214", "GARD:0016365", "MEDGEN:1684724", "OMIM:618557", "UMLS:C5231409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032813", "name": "Developmental and epileptic encephalopathy, 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE79", "EIEE79", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79", "developmental and epileptic encephalopathy 79", "epileptic encephalopathy, early infantile, 79"], "xref": ["DOID:0112215", "GARD:0016366", "MEDGEN:1684738", "OMIM:618559", "UMLS:C5231410"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032814", "name": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT", "PADMAL", "pontine autosomal dominant microangiopathy with leukoencephalopathy"], "xref": ["GARD:0017855", "MEDGEN:1684781", "OMIM:618564", "Orphanet:477749", "UMLS:C5231411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032815", "name": "Mitochondrial dna depletion syndrome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070448", "GARD:0025752", "MEDGEN:1684823", "OMIM:618567", "UMLS:C5231412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032816", "name": "Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018519", "MEDGEN:1684871", "OMIM:618569", "UMLS:C5231413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032817", "name": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070346", "MEDGEN:1684661", "OMIM:618571", "UMLS:C5231414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032818", "name": "Neurodevelopmental disorder with cerebellar hypoplasia and spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684815", "OMIM:618572", "UMLS:C5231415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032819", "name": "Hypothyroidism, congenital, nongoitrous, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TRH resistance syndrome", "central hypothyroidism due to TRH receptor deficiency", "hypothyroidism, congenital, nongoitrous, 7", "resistance to thyrotropin-releasing hormone syndrome"], "xref": ["DOID:0111836", "GARD:0016914", "MEDGEN:349957", "OMIM:618573", "Orphanet:99832", "SCTID:725462002", "UMLS:C1861106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032820", "name": "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027135", "MEDGEN:1684725", "OMIM:618577", "Orphanet:659609", "UMLS:C5231416"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032821", "name": "Myopathy, congenital, progressive, with scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MYOSCO", "myopathy, congenital, progressive, with scoliosis"], "xref": ["DOID:0081351", "GARD:0025753", "MEDGEN:1684769", "OMIM:618578", "UMLS:C5231417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032822", "name": "Developmental and epileptic encephalopathy, 80", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE80", "EIEE80", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80", "developmental and epileptic encephalopathy 80", "epileptic encephalopathy, early infantile, 80"], "xref": ["DOID:0112216", "GARD:0025754", "MEDGEN:1684779", "OMIM:618580", "UMLS:C5231418"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032823", "name": "Intellectual developmental disorder 60 with seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0061050", "GARD:0016367", "MEDGEN:1684702", "OMIM:618587", "UMLS:C5231497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032824", "name": "Glycosylphosphatidylinositol biosynthesis defect 21", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684749", "OMIM:618590", "UMLS:C5231419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032826", "name": "Nephrotic syndrome, type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112267", "GARD:0027944", "MEDGEN:1684676", "OMIM:618594", "UMLS:C5231498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032828", "name": "Spastic tetraplegia and axial hypotonia, progressive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684731", "OMIM:618598", "UMLS:C5231422"]}
{"category": ["biolink:Disease"], "description": "Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.", "id": "MONDO:0032829", "name": "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NEDHIB", "POLR2A-Related Disorders", "POLR2A-associated neurodevelopmental disability", "POLR2A-related disorder", "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"], "xref": ["MEDGEN:1684818", "OMIM:618603", "UMLS:C5231423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032830", "name": "Snijders blok-fisher syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0025755", "MEDGEN:1684801", "OMIM:618604", "Orphanet:656135", "UMLS:C5231424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032831", "name": "Pontocerebellar hypoplasia, type 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PCH13", "PONTOCEREBELLAR HYPOPLASIA, TYPE 13"], "xref": ["DOID:0112332", "GARD:0018031", "MEDGEN:1684708", "OMIM:618606", "Orphanet:613267", "UMLS:C5231425"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032832", "name": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1684881", "OMIM:618608", "Orphanet:697760", "Orphanet:697764", "UMLS:C5231426"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032833", "name": "Lower urinary tract obstruction, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684849", "OMIM:618612", "UMLS:C5231427"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032834", "name": "Retinitis pigmentosa 86", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112143", "GARD:0016368", "MEDGEN:1684789", "OMIM:618613", "UMLS:C5231428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032835", "name": "Spondyloepiphyseal dysplasia, nishimura type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112288", "GARD:0025756", "MEDGEN:930816", "OMIM:618618", "UMLS:C4305147", "icd11.foundation:523290419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032836", "name": "Weiss-kruszka syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["WSKA", "Weiss-Kruszka syndrome", "ZNF462 disorder", "metopic ridging-ptosis-facial dysmorphism syndrome"], "xref": ["GARD:0027945", "MEDGEN:1799530", "OMIM:618619", "Orphanet:502430", "UMLS:C5568107"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032837", "name": "Abdominal obesity-metabolic syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080945", "GARD:0025757", "MEDGEN:1704861", "OMIM:618620", "UMLS:C5231430"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032838", "name": "Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027136", "MEDGEN:1684840", "OMIM:618622", "Orphanet:664923", "UMLS:C5231431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032839", "name": "Noonan syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112170", "GARD:0016369", "MEDGEN:1684730", "NCIT:C177120", "OMIM:618624", "UMLS:C5231432"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032841", "name": "Usher syndrome, type 1m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0016370", "MEDGEN:1684669", "OMIM:618632", "UMLS:C5231434"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032842", "name": "Siddiqi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081273", "MEDGEN:1684813", "OMIM:618635", "UMLS:C5231435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032843", "name": "Oculopharyngeal myopathy with leukoencephalopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684701", "OMIM:618637", "UMLS:C5231436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032844", "name": "Infantile liver failure syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016483", "MEDGEN:1684678", "OMIM:618641", "UMLS:C5231437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032845", "name": "Spermatogenic failure 39", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111926", "GARD:0018410", "MEDGEN:1684778", "OMIM:618643", "UMLS:C5231438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032846", "name": "Osteogenesis imperfecta, type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111849", "GARD:0025758", "MEDGEN:1684751", "OMIM:618644", "UMLS:C5231439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032848", "name": "Immunodeficiency 65, susceptibility to viral infections", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match"], "xref": ["DOID:0111978", "MEDGEN:1684865", "OMIM:618648", "UMLS:C5231441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032849", "name": "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Halperin-Birk syndrome"], "xref": ["DOID:0070539", "MEDGEN:1684884", "OMIM:618651", "UMLS:C5231442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032850", "name": "Neurooculocardiogenitourinary syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0111675", "GARD:0027365", "MEDGEN:1684841", "OMIM:618652", "Orphanet:684305", "UMLS:C5231443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032851", "name": "Intellectual developmental disorder with impaired language and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018520", "MEDGEN:1684804", "OMIM:618653", "UMLS:C5231444"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032852", "name": "Myopathy, congenital, with structured cores and z-line abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, congenital with structured cores and z-line abnormalities"], "xref": ["DOID:0081342", "GARD:0025759", "MEDGEN:1684705", "OMIM:618654", "UMLS:C5231445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032853", "name": "Myopathy, distal, 6, adult-onset, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myopathy, distal, 6, adult onset"], "xref": ["GARD:0027946", "MEDGEN:1684760", "OMIM:618655", "UMLS:C5203349"]}
{"category": ["biolink:Disease"], "description": "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNN3 gene. It is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia", "id": "MONDO:0032854", "name": "Zimmermann-laband syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZIMMERMANN-LABAND SYNDROME 3", "ZLS3"], "xref": ["GARD:0016371", "MEDGEN:1684740", "OMIM:618658", "UMLS:C5231447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032855", "name": "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018521", "MEDGEN:1684792", "OMIM:618659", "UMLS:C5231448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032857", "name": "Diarrhea 11, malabsorptive, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684754", "OMIM:618662", "UMLS:C5231449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032858", "name": "Developmental and epileptic encephalopathy, 81", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE81", "EIEE81", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81", "developmental and epileptic encephalopathy 81", "epileptic encephalopathy, early infantile, 81"], "xref": ["DOID:0112217", "GARD:0025760", "MEDGEN:1684681", "OMIM:618663", "UMLS:C5231450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032859", "name": "Spermatogenic failure 40", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111918", "GARD:0018411", "MEDGEN:1684662", "OMIM:618664", "UMLS:C5231451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032860", "name": "Intellectual developmental disorder, autosomal recessive 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080765", "GARD:0025761", "MEDGEN:1684805", "OMIM:618665", "UMLS:C5231452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032862", "name": "Hydrocephalus, congenital communicating, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018090", "MEDGEN:1684770", "OMIM:618667", "UMLS:C5231454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032863", "name": "Spermatogenic failure 41", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111912", "GARD:0018412", "MEDGEN:1684739", "OMIM:618670", "UMLS:C5231455"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032864", "name": "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0027947", "MEDGEN:1684848", "OMIM:618672", "UMLS:C5231456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032865", "name": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ZCCHC8-related telomere biology disorder"], "xref": ["GARD:0025762", "MEDGEN:1684878", "OMIM:618674", "UMLS:C5231457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032866", "name": "Cortical dysplasia, complex, with other brain malformations 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061143", "MEDGEN:1684859", "OMIM:618677", "UMLS:C5231458"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032867", "name": "Pancreatic cancer, susceptibility to, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0027948", "MEDGEN:1684838", "OMIM:618680", "UMLS:C5231459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032868", "name": "Lessel-kubisch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684750", "OMIM:618681", "UMLS:C5231460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032869", "name": "Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111749", "GARD:0018673", "MEDGEN:1684729", "OMIM:618683", "UMLS:C5231461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032870", "name": "Intellectual developmental disorder with short stature and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111674", "GARD:0022581", "MEDGEN:1684812", "OMIM:618687", "UMLS:C5231462"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032871", "name": "Leukodystrophy, hypomyelinating, 19, transient infantile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070400", "GARD:0025763", "MEDGEN:1684698", "OMIM:618688", "UMLS:C5231463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032872", "name": "Ciliary dyskinesia, primary, 42", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111855", "GARD:0016373", "MEDGEN:1684665", "OMIM:618695", "UMLS:C5231464"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032873", "name": "Retinitis pigmentosa 87 with choroidal involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016374", "MEDGEN:1684667", "OMIM:618697", "UMLS:C5231465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032874", "name": "Ciliary dyskinesia, primary, 43", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111856", "GARD:0025764", "MEDGEN:1684675", "OMIM:618699", "UMLS:C5231466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032875", "name": "Short stature and microcephaly with genital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684791", "OMIM:618702", "UMLS:C5231467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032876", "name": "Neurodevelopmental disorder with absent language and variable seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684803", "OMIM:618707", "UMLS:C5231469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032877", "name": "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"], "xref": ["MEDGEN:1684757", "OMIM:618709", "UMLS:C5231470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032878", "name": "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684663", "OMIM:618718", "UMLS:C5231471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032879", "name": "Megabladder, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0112014", "MEDGEN:1684806", "OMIM:618719", "UMLS:C5231472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032880", "name": "Developmental and epileptic encephalopathy, 82", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE82", "EIEE82", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82", "developmental and epileptic encephalopathy 82", "epileptic encephalopathy, early infantile, 82"], "xref": ["DOID:0080715", "GARD:0025765", "MEDGEN:1684694", "OMIM:618721", "UMLS:C5231473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032881", "name": "Premature ovarian failure 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080873", "GARD:0018044", "MEDGEN:1684679", "OMIM:618723", "UMLS:C5231474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032882", "name": "Heyn-sproul-jackson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025766", "MEDGEN:1684743", "OMIM:618724", "Orphanet:658595", "UMLS:C5231475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032883", "name": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1684850", "OMIM:618725", "UMLS:C5231476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032884", "name": "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic"], "xref": ["MEDGEN:1684719", "OMIM:618727", "UMLS:C5231477"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032885", "name": "Spondyloepimetaphyseal dysplasia, isidor-toutain type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027137", "MEDGEN:1684771", "OMIM:618728", "UMLS:C5231478"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032886", "name": "Liang-wang syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027058", "MEDGEN:1684847", "OMIM:618729", "Orphanet:664438", "UMLS:C5231479"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032887", "name": "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684695", "OMIM:618730", "UMLS:C5231480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032888", "name": "Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684772", "OMIM:618731", "UMLS:C5231481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032889", "name": "Poirier-bienvenu neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027366", "MEDGEN:1684718", "OMIM:618732", "Orphanet:689397", "UMLS:C5231482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032890", "name": "Neuromuscular disease and ocular or auditory anomalies with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684689", "OMIM:618733", "UMLS:C5231483"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032891", "name": "Aneurysm, intracranial berry, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080975", "GARD:0018330", "MEDGEN:1684660", "OMIM:618734", "UMLS:C5231484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032892", "name": "Structural brain anomalies with impaired intellectual development and craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684861", "OMIM:618736", "UMLS:C5231485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032893", "name": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0081266", "MEDGEN:1684879", "OMIM:618737", "UMLS:C5231486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032894", "name": "Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1717952", "OMIM:618741", "UMLS:C5394027"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032895", "name": "Developmental and epileptic encephalopathy, 83", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE83", "EIEE83", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83", "developmental and epileptic encephalopathy 83", "epileptic encephalopathy, early infantile, 83"], "xref": ["DOID:0112218", "GARD:0025767", "MEDGEN:1684784", "OMIM:618744", "UMLS:C5231487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032896", "name": "Spermatogenic failure 42", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111923", "GARD:0018413", "MEDGEN:1684744", "OMIM:618745", "UMLS:C5231488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032897", "name": "Intellectual developmental disorder with hypotonia and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684709", "OMIM:618748", "UMLS:C5231489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032898", "name": "Spermatogenic failure 43", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111917", "GARD:0018414", "MEDGEN:1684830", "OMIM:618751", "UMLS:C5231490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032899", "name": "Neutropenia, severe congenital, 8, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112135", "GARD:0016375", "MEDGEN:1684816", "OMIM:618752", "Orphanet:675767", "UMLS:C5203411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032900", "name": "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684874", "OMIM:618760", "UMLS:C5231491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032901", "name": "Catifa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1684686", "OMIM:618761", "UMLS:C5231492"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032902", "name": "Joubert syndrome 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016376", "MEDGEN:1684786", "OMIM:618763", "UMLS:C5231493"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032903", "name": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMCNACC", "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum"], "xref": ["DOID:0080980", "GARD:0025768", "MEDGEN:1684706", "OMIM:618766", "UMLS:C5231494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032904", "name": "Corneal dystrophy, meesmann, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080671", "GARD:0025769", "MEDGEN:1684798", "OMIM:618767", "UMLS:C5231495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032905", "name": "Spastic paraplegia 81, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025770", "MEDGEN:1711668", "OMIM:618768", "UMLS:C5394033"]}
{"category": ["biolink:Disease"], "description": "Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.", "id": "MONDO:0032906", "name": "Spastic paraplegia 82, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG82", "autosomal recessive spastic paraplegia type 82", "spastic paraplegia 82, autosomal recessive"], "xref": ["DOID:0112343", "GARD:0025771", "MEDGEN:1710411", "OMIM:618770", "Orphanet:631073", "UMLS:C5394037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032907", "name": "Lymphatic malformation 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025772", "MEDGEN:1684767", "OMIM:618773", "UMLS:C5231496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032908", "name": "Cebalid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MCTT", "MN1 C-Terminal Truncation Syndrome", "MN1 C-terminal truncation syndrome"], "xref": ["GARD:0027949", "MEDGEN:1710973", "OMIM:618774", "Orphanet:693549", "UMLS:C5394044"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the UQCRFS1 gene.", "id": "MONDO:0032909", "name": "Mitochondrial complex iii deficiency, nuclear type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016377", "MEDGEN:1719382", "OMIM:618775", "UMLS:C5394051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032910", "name": "Mitochondrial complex i deficiency, nuclear type 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112091", "GARD:0016378", "MEDGEN:1720533", "OMIM:618776", "UMLS:C5394053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032911", "name": "Hearing loss, autosomal dominant 75", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112166", "GARD:0018153", "MEDGEN:1713569", "OMIM:618778", "UMLS:C5394059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032912", "name": "Coffin-siris syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112372", "GARD:0016379", "MEDGEN:1717402", "OMIM:618779", "UMLS:C5241442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032913", "name": "Congenital heart defects, multiple types, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1714491", "OMIM:618780", "UMLS:C5394062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032914", "name": "Ciliary dyskinesia, primary, 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111851", "GARD:0016380", "MEDGEN:1716408", "OMIM:618781", "UMLS:C5394063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032915", "name": "Long qt syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["long QT syndrome 16"], "xref": ["DOID:0070533", "GARD:0025773", "MEDGEN:1713991", "OMIM:618782", "UMLS:C5394068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032916", "name": "Imagawa-matsumoto syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016381", "MEDGEN:1711007", "OMIM:618786", "Orphanet:659463", "UMLS:C5394073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032917", "name": "Hearing loss, autosomal dominant 76", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112167", "GARD:0018154", "MEDGEN:1710038", "OMIM:618787", "UMLS:C5394080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032918", "name": "Developmental and epileptic encephalopathy, 84", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE84", "EIEE84", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84", "UGDH-Related Disorder", "developmental and epileptic encephalopathy 84", "epileptic encephalopathy, early infantile, 84"], "xref": ["DOID:0112219", "GARD:0025774", "MEDGEN:1720141", "NORD:102487", "OMIM:618792", "UMLS:C5394081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032919", "name": "Shine Syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DLG4 synaptopathy", "DLG4-related synaptopathy", "SHINE syndrome", "autosomal dominant intellectual developmental disorder-62", "intellectual developmental disorder, autosomal dominant 62", "sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome"], "xref": ["DOID:0061035", "GARD:0025775", "ICD10CM:QA0.0142", "MEDGEN:1712636", "OMIM:618793", "UMLS:C5394083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032920", "name": "Juvenile arthritis due to defect in lacc1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016382", "OMIM:618795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032921", "name": "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1716098", "OMIM:618797", "UMLS:C5394091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032922", "name": "Beck-fahrner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027367", "MEDGEN:1711894", "OMIM:618798", "Orphanet:684216", "UMLS:C5394097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032923", "name": "Spinocerebellar ataxia, autosomal recessive 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["THG1L-related autosomal recessive congenital cerebellar ataxia"], "xref": ["DOID:0070409", "GARD:0025776", "MEDGEN:1712568", "OMIM:618800", "UMLS:C5394101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032924", "name": "Ciliary dyskinesia, primary, 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111857", "GARD:0016383", "MEDGEN:1714988", "OMIM:618801", "UMLS:C5394104"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032925", "name": "Respiratory papillomatosis, juvenile recurrent, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1719353", "OMIM:618803", "UMLS:C5394112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032926", "name": "Sandestig-stefanova syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0081272", "MEDGEN:1718072", "OMIM:618804", "UMLS:C5394118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032927", "name": "Triokinase and fmn cyclase deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1710207", "OMIM:618805", "UMLS:C5394125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032928", "name": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027138", "MEDGEN:1712366", "OMIM:618806", "Orphanet:676039", "UMLS:C5394133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032930", "name": "Intellectual developmental disorder with poor growth and with or without seizures or ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1711370", "OMIM:618808", "UMLS:C5394135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032931", "name": "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome", "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"], "xref": ["DOID:0081396", "GARD:0018034", "MEDGEN:1716458", "OMIM:618810", "Orphanet:615954", "UMLS:C5394137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032932", "name": "Mitochondrial dna depletion syndrome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070449", "GARD:0025777", "MEDGEN:1713890", "OMIM:618811", "UMLS:C5394140"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032933", "name": "Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0070470", "GARD:0025778", "MEDGEN:1708515", "OMIM:618815", "Orphanet:656279", "UMLS:C5394150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032934", "name": "Genitourinary and/or brain malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GUB syndrome", "UBM syndrome", "UBMS", "Urogenital and/or brain malformation syndrome", "genitourinary and/or brain malformation syndrome", "genitourinary and/or/brain malformation syndrome"], "xref": ["GARD:0027950", "MEDGEN:1720440", "OMIM:618820", "UMLS:C5394158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032935", "name": "Rhizomelic limb shortening with dysmorphic features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1720321", "OMIM:618821", "UMLS:C5394173"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032936", "name": "Myopathy, congenital, with respiratory insufficiency and bone fractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081343", "GARD:0025779", "MEDGEN:1718097", "OMIM:618822", "UMLS:C5394189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032937", "name": "Myopathy, congenital proximal, with minicore lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081344", "GARD:0025780", "MEDGEN:1717569", "OMIM:618823", "UMLS:C5394193"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032938", "name": "Basal ganglia calcification, idiopathic, 8, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0016384", "MEDGEN:1713414", "OMIM:618824", "UMLS:C5394199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032939", "name": "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0061036", "GARD:0025781", "MEDGEN:1716581", "OMIM:618825", "UMLS:C5394205"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032940", "name": "Retinitis pigmentosa 88", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112145", "GARD:0016385", "MEDGEN:1720448", "OMIM:618826", "UMLS:C5394208"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032941", "name": "Myopia 27", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1719756", "OMIM:618827", "UMLS:C5394215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032942", "name": "Neurodevelopmental disorder with microcephaly and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nabais sa-de vries syndrome, type 1"], "xref": ["GARD:0027139", "MEDGEN:1719418", "OMIM:618828", "Orphanet:662179", "UMLS:C5394218"]}
{"category": ["biolink:Disease"], "id": "MONDO:0032943", "name": "Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["nabais sa-de vries syndrome, type 2"], "xref": ["GARD:0027140", "MEDGEN:1714169", "OMIM:618829", "Orphanet:662175", "UMLS:C5394221"]}
{"category": ["biolink:Disease"], "description": "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.", "id": "MONDO:0033004", "name": "Polycystic kidney disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["polycystic kidney disease 4, with or without hepatic disease"], "xref": ["DOID:0080212", "GARD:0006168", "MEDGEN:1621793", "OMIM:263200", "UMLS:C4540575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033005", "name": "Galloway-mowat syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Galloway-Mowat syndrome 1"], "xref": ["DOID:0060364", "GARD:0015199", "MEDGEN:1634188", "OMIM:251300", "UMLS:C4551772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033006", "name": "Galloway-mowat syndrome 2, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Galloway-Mowat syndrome 2, X-linked", "Galloway-Mowat syndrome 2, X-linked, X-linked recessive"], "xref": ["DOID:0080244", "GARD:0015281", "MEDGEN:1625619", "OMIM:301006", "UMLS:C4538784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033007", "name": "Galloway-mowat syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Galloway-Mowat syndrome 3"], "xref": ["DOID:0080245", "GARD:0016247", "MEDGEN:1627611", "OMIM:617729", "UMLS:C4540266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033008", "name": "Galloway-mowat syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Galloway-Mowat syndrome 4"], "xref": ["DOID:0080246", "GARD:0016248", "MEDGEN:1613511", "OMIM:617730", "UMLS:C4540270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033009", "name": "Galloway-mowat syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Galloway-Mowat syndrome 5"], "xref": ["DOID:0080247", "GARD:0016249", "MEDGEN:1617227", "OMIM:617731", "UMLS:C4540274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033010", "name": "Erythrokeratodermia variabilis et progressiva 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111195", "GARD:0025782", "MEDGEN:1633225", "OMIM:133200", "UMLS:C4551486"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033012", "name": "Erythrokeratodermia variabilis et progressiva 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080248", "GARD:0018588", "MEDGEN:1379712", "OMIM:617524", "UMLS:C4479618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033013", "name": "Erythrokeratodermia variabilis et progressiva 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080249", "GARD:0018589", "MEDGEN:1380593", "OMIM:617525", "UMLS:C4479619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033014", "name": "Erythrokeratodermia variabilis et progressiva 4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["erythrokeratodermia variabilis et progressiva 4"], "xref": ["DOID:0080250", "GARD:0018590", "MEDGEN:1372799", "OMIM:617526", "UMLS:C4479620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033015", "name": "Erythrokeratodermia variabilis et progressiva 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080251", "GARD:0018669", "MEDGEN:1626376", "OMIM:617756", "UMLS:C4540331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033043", "name": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"], "xref": ["DOID:0080252", "GARD:0017964", "MEDGEN:1382553", "OMIM:617560", "Orphanet:527497", "UMLS:C4479653"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033044", "name": "Meckel syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Meckel syndrome 13", "Meckel syndrome, type 13"], "xref": ["DOID:0080253", "GARD:0016236", "MEDGEN:1627793", "OMIM:617562", "UMLS:C4539714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033045", "name": "Orofaciodigital syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080254", "GARD:0025783", "MEDGEN:1620071", "OMIM:617563", "UMLS:C4539729"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033046", "name": "Meier-gorlin syndrome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Meier-Gorlin syndrome 8"], "xref": ["DOID:0080255", "GARD:0025784", "MEDGEN:1390366", "OMIM:617564", "UMLS:C4479655"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033047", "name": "Perrault syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Perrault syndrome 6"], "xref": ["DOID:0080256", "GARD:0016237", "MEDGEN:1391447", "OMIM:617565", "UMLS:C4479656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033091", "name": "Ichthyosis, congenital, autosomal recessive 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ichthyosis, congenital, autosomal recessive 14"], "xref": ["DOID:0080258", "GARD:0016471", "MEDGEN:1620129", "OMIM:617571", "UMLS:C4539754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033092", "name": "Ichthyosis, congenital, autosomal recessive 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ichthyosis, congenital, autosomal recessive 13"], "xref": ["DOID:0080257", "GARD:0025785", "MEDGEN:1620886", "OMIM:617574", "UMLS:C4539772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033115", "name": "Spinocerebellar ataxia, autosomal recessive 25", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia, autosomal recessive 25"], "xref": ["DOID:0080259", "GARD:0025786", "MEDGEN:1618081", "OMIM:617584", "UMLS:C4539808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033116", "name": "Spinocerebellar ataxia, autosomal recessive 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia, autosomal recessive 26"], "xref": ["DOID:0080260", "GARD:0025787", "MEDGEN:1617917", "OMIM:617633", "UMLS:C4539948"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033123", "name": "Exudative vitreoretinopathy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["exudative vitreoretinopathy 7"], "xref": ["DOID:0080264", "GARD:0016238", "MEDGEN:1626650", "OMIM:617572", "UMLS:C4539767"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.", "id": "MONDO:0033135", "name": "Charcot-marie-tooth disease, demyelinating, type 1g", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMT1G", "Charcot-Marie-Tooth disease, demyelinating, type 1G", "PMP2-related Charcot-Marie-Tooth disease type 1"], "xref": ["DOID:0111560", "GARD:0017851", "MEDGEN:1648290", "OMIM:618279", "Orphanet:476394", "UMLS:C4748940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033169", "name": "Curariform drugs toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:413693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033170", "name": "Statin toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:413696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033181", "name": "Phenytoin or carbamazepine toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:414750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033198", "name": "Hearing loss, autosomal recessive 106", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080261", "GARD:0022656", "MEDGEN:1627111", "OMIM:617637", "UMLS:C4539954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033199", "name": "Hearing loss, autosomal recessive 107", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080262", "GARD:0022657", "MEDGEN:1622558", "OMIM:617639", "UMLS:C4539964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033200", "name": "Hearing loss, autosomal recessive 108", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080263", "GARD:0022658", "MEDGEN:1627841", "OMIM:617654", "UMLS:C4539997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033201", "name": "Hearing loss, autosomal recessive 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["hearing loss, autosomal recessive 57"], "xref": ["DOID:0111635", "GARD:0025788", "MEDGEN:1631180", "OMIM:618003", "UMLS:C4693893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033202", "name": "Hearing loss, autosomal recessive 109", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111639", "GARD:0025789", "MEDGEN:1633308", "OMIM:618013", "UMLS:C4693935"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033203", "name": "Nephrotic syndrome 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RENI syndrome", "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14", "SPLIS", "familial steroid-resistant nephrotic syndrome with adrenal insufficiency", "nephrotic syndrome 14", "nephrotic syndrome, type 14", "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency", "renal, endocrine, neurologic and immune syndrome", "sphingosine phosphate lyase insufficiency syndrome"], "xref": ["DOID:0080265", "GARD:0013818", "MEDGEN:1617660", "OMIM:617575", "Orphanet:506334", "UMLS:C4540559"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033204", "name": "Ciliary dyskinesia, primary, 37", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ciliary dyskinesia, primary, 37"], "xref": ["DOID:0080266", "GARD:0016239", "MEDGEN:1615746", "OMIM:617577", "UMLS:C4539798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033258", "name": "Hearing loss, autosomal dominant 71", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080267", "GARD:0018147", "MEDGEN:1621646", "OMIM:617605", "UMLS:C4539881"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033259", "name": "Hearing loss, autosomal dominant 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080268", "GARD:0018148", "MEDGEN:1614203", "OMIM:617606", "UMLS:C4539886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033260", "name": "Hearing loss, autosomal dominant 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080269", "GARD:0018149", "MEDGEN:1627153", "OMIM:617663", "UMLS:C4540024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033261", "name": "Hearing loss, autosomal dominant 34, with or without inflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080270", "GARD:0025790", "MEDGEN:1626346", "OMIM:617772", "UMLS:C4521680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033262", "name": "Nephrotic syndrome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephrotic syndrome 15", "nephrotic syndrome, type 15"], "xref": ["DOID:0080271", "GARD:0027951", "MEDGEN:1620414", "OMIM:617609", "UMLS:C4539896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033280", "name": "Nephrotic syndrome 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephrotic syndrome 16", "nephrotic syndrome, type 16"], "xref": ["DOID:0080272", "GARD:0027952", "MEDGEN:1622427", "OMIM:617783", "UMLS:C4540453"]}
{"category": ["biolink:Disease"], "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.", "id": "MONDO:0033281", "name": "Polycystic kidney disease 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DZIP1L polycystic kidney disease", "polycystic kidney disease 5", "polycystic kidney disease caused by mutation in DZIP1L"], "xref": ["DOID:0080273", "GARD:0016242", "MEDGEN:1624679", "OMIM:617610", "UMLS:C4539903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033282", "name": "Multiple mitochondrial dysfunctions syndrome 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["multiple mitochondrial dysfunctions syndrome 5"], "xref": ["DOID:0080274", "GARD:0022305", "MEDGEN:1623132", "OMIM:617613", "Orphanet:569274", "UMLS:C4539919"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033304", "name": "Nonsyndromic deafness, y-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111757", "GARD:0025791", "OMIMPS:400043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033308", "name": "Joubert syndrome 30", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Joubert syndrome 30"], "xref": ["DOID:0080275", "GARD:0016243", "MEDGEN:1613861", "OMIM:617622", "UMLS:C4539937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033309", "name": "Joubert syndrome 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Joubert syndrome 32"], "xref": ["DOID:0080278", "GARD:0025792", "MEDGEN:1626697", "OMIM:617757", "UMLS:C4540342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033310", "name": "Joubert syndrome 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Joubert syndrome 31"], "xref": ["DOID:0080277", "GARD:0016251", "MEDGEN:1618082", "OMIM:617761", "UMLS:C4540355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033311", "name": "Joubert syndrome 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Joubert syndrome 33"], "xref": ["DOID:0080279", "GARD:0025793", "MEDGEN:1615779", "OMIM:617767", "UMLS:C4540389"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033312", "name": "Schizophrenia 19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["schizophrenia 19"], "xref": ["DOID:0080281", "MEDGEN:1613937", "OMIM:617629", "UMLS:C4539944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033352", "name": "Neuropathy, congenital hypomelinating", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CHN"], "xref": ["DOID:0070678", "GARD:0025794", "MEDGEN:97965", "OMIMPS:605253", "UMLS:C0393818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033361", "name": "Developmental and epileptic encephalopathy, 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE52", "EIEE52", "developmental and epileptic encephalopathy 52", "epileptic encephalopathy, early infantile, 52"], "xref": ["DOID:0080455", "GARD:0016223", "MEDGEN:1376462", "OMIM:617350", "UMLS:C4479236"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033362", "name": "Developmental and epileptic encephalopathy, 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE53", "EIEE53", "developmental and epileptic encephalopathy 53", "epileptic encephalopathy, early infantile, 53"], "xref": ["DOID:0080464", "GARD:0016224", "MEDGEN:1374886", "OMIM:617389", "UMLS:C4479313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033363", "name": "Developmental and epileptic encephalopathy, 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE54", "EIEE54", "HNRNPU-Related Disorder", "developmental and epileptic encephalopathy 54", "epileptic encephalopathy, early infantile, 54"], "xref": ["DOID:0080418", "GARD:0016225", "MEDGEN:1392637", "NORD:146101", "OMIM:617391", "UMLS:C4479319"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.", "id": "MONDO:0033364", "name": "Developmental and epileptic encephalopathy, 55", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE55", "EIEE55", "developmental and epileptic encephalopathy 55", "epileptic encephalopathy, early infantile, 55"], "xref": ["DOID:0080283", "GARD:0016241", "MEDGEN:1622363", "OMIM:617599", "UMLS:C4539843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033365", "name": "Developmental and epileptic encephalopathy, 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE56", "EIEE56", "developmental and epileptic encephalopathy 56", "epileptic encephalopathy, early infantile, 56", "infantile epileptic encephalopathy 56"], "xref": ["DOID:0080282", "GARD:0025795", "MEDGEN:1621755", "OMIM:617665", "UMLS:C4540034"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033366", "name": "Developmental and epileptic encephalopathy, 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE57", "EIEE57", "developmental and epileptic encephalopathy 57", "epileptic encephalopathy, early infantile, 57", "infantile epileptic encephalopathy 57"], "xref": ["DOID:0080284", "GARD:0025796", "MEDGEN:1621769", "OMIM:617771", "UMLS:C4540411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033367", "name": "Developmental and epileptic encephalopathy, 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE58", "EIEE58", "developmental and epileptic encephalopathy 58", "epileptic encephalopathy, early infantile, 58", "infantile epileptic encephalopathy 58"], "xref": ["DOID:0080285", "GARD:0016259", "MEDGEN:1646861", "OMIM:617830", "UMLS:C4693367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033368", "name": "Developmental and epileptic encephalopathy, 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE59", "EIEE59", "developmental and epileptic encephalopathy 59", "epileptic encephalopathy, early infantile, 59", "infantile epileptic encephalopathy 59"], "xref": ["DOID:0080291", "GARD:0025797", "MEDGEN:1633749", "OMIM:617904", "UMLS:C4693550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033369", "name": "Developmental and epileptic encephalopathy, 60", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE60", "EIEE60", "developmental and epileptic encephalopathy 60", "epileptic encephalopathy, early infantile, 60"], "xref": ["DOID:0080432", "GARD:0016270", "MEDGEN:1638894", "OMIM:617929", "UMLS:C4693663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033370", "name": "Developmental and epileptic encephalopathy, 61", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE61", "EIEE61", "developmental and epileptic encephalopathy 61", "epileptic encephalopathy, early infantile, 61"], "xref": ["DOID:0080434", "GARD:0025798", "MEDGEN:1639392", "OMIM:617933", "UMLS:C4693688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033371", "name": "Developmental and epileptic encephalopathy, 62", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE62", "EIEE62", "developmental and epileptic encephalopathy 62", "epileptic encephalopathy, early infantile, 62"], "xref": ["DOID:0080420", "GARD:0016271", "MEDGEN:1631233", "OMIM:617938", "UMLS:C4693699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033372", "name": "Developmental and epileptic encephalopathy, 63", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE63", "EIEE63", "developmental and epileptic encephalopathy 63", "epileptic encephalopathy, early infantile, 63"], "xref": ["DOID:0080426", "GARD:0025799", "MEDGEN:1646846", "OMIM:617976", "UMLS:C4693810"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033373", "name": "Developmental and epileptic encephalopathy, 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE64", "EIEE64", "RHOBTB2 syndrome", "RHOBTB2-associated neurodevelopmental disorders", "developmental and epileptic encephalopathy 64", "epileptic encephalopathy, early infantile, 64"], "xref": ["DOID:0070375", "GARD:0013681", "MEDGEN:1633501", "OMIM:618004", "UMLS:C4693899"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033374", "name": "Developmental and epileptic encephalopathy, 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE65", "EIEE65", "developmental and epileptic encephalopathy 65", "epileptic encephalopathy, early infantile, 65"], "xref": ["DOID:0080430", "GARD:0016283", "MEDGEN:1634676", "OMIM:618008", "UMLS:C4693925"]}
{"category": ["biolink:Disease"], "description": "An orofaciodigital syndrome caused by a mutation in the INTU gene.", "id": "MONDO:0033375", "name": "Orofaciodigital syndrome 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["OFD17", "OFDS XVII", "oral-facial-digital syndrome, type XVII"], "xref": ["DOID:0080289", "GARD:0025800", "MEDGEN:1644516", "OMIM:617926", "UMLS:C4693640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033479", "name": "Spinocerebellar ataxia 44", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia 44"], "xref": ["DOID:0080286", "GARD:0025801", "MEDGEN:1611168", "OMIM:617691", "Orphanet:631095", "UMLS:C4521563"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033480", "name": "Spinocerebellar ataxia 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia 45"], "xref": ["DOID:0080287", "GARD:0022353", "MEDGEN:1622156", "OMIM:617769", "Orphanet:589527", "UMLS:C4540400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033481", "name": "Spinocerebellar ataxia 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spinocerebellar ataxia 46"], "xref": ["DOID:0080288", "GARD:0022352", "MEDGEN:1624251", "OMIM:617770", "Orphanet:589522", "UMLS:C4540404"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.", "id": "MONDO:0033482", "name": "Spinocerebellar ataxia 47", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PUM1-related cerebellar ataxia", "spinocerebellar ataxia 47"], "xref": ["DOID:0111743", "GARD:0022351", "MEDGEN:1636349", "OMIM:617931", "Orphanet:642747", "UMLS:C4693672"]}
{"category": ["biolink:Disease"], "description": "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.", "id": "MONDO:0033483", "name": "Erythrocytosis, familial, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EPO familial polycythemia", "erythrocytosis, familial, 5", "familial polycythemia caused by mutation in EPO"], "xref": ["DOID:0080290", "GARD:0025802", "MEDGEN:1638941", "OMIM:617907", "UMLS:C4693552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033485", "name": "Short-rib thoracic dysplasia 19 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["short-rib thoracic dysplasia 19 with or without polydactyly"], "xref": ["DOID:0080295", "GARD:0025803", "MEDGEN:1635837", "OMIM:617895", "UMLS:C4693524"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033486", "name": "Leukodystrophy, hypomyelinating, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leukodystrophy, hypomyelinating, 14"], "xref": ["DOID:0080296", "GARD:0016266", "MEDGEN:1635255", "OMIM:617899", "UMLS:C4693535"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.", "id": "MONDO:0033492", "name": "Coffin-siris syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ARID2-related BAFopathy", "Coffin-Siris syndrome 6"], "xref": ["DOID:0080297", "GARD:0016254", "MEDGEN:1615540", "OMIM:617808", "UMLS:C4540499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033493", "name": "Fibromatosis, gingival, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["fibromatosis, gingival, 5"], "xref": ["DOID:0080280", "GARD:0018357", "MEDGEN:1624392", "OMIM:617626", "UMLS:C4539942"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033532", "name": "Suleiman-el-hattab syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1738652", "OMIM:618950", "UMLS:C5436458"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033533", "name": "Combined oxidative phosphorylation deficiency 45", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112113", "GARD:0025804", "MEDGEN:1731010", "OMIM:618951", "UMLS:C5436461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033534", "name": "Combined oxidative phosphorylation deficiency 46", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["combined oxidative phosphorylation defiency 46"], "xref": ["DOID:0112115", "GARD:0025805", "MEDGEN:1752252", "OMIM:618952", "UMLS:C5436466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033537", "name": "Combined oxidative phosphorylation deficiency 47", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112114", "GARD:0025806", "MEDGEN:1775535", "OMIM:618958", "UMLS:C5436476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033541", "name": "Immunodeficiency 69", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency 69, mycobacteriosis"], "xref": ["DOID:0112006", "MEDGEN:1735911", "OMIM:618963", "Orphanet:699618", "UMLS:C5436498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033542", "name": "Immunodeficiency 70", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0112005", "MEDGEN:1740270", "OMIM:618969", "UMLS:C5436501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033543", "name": "Cone-rod synaptic disorder syndrome, congenital nonprogressive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1773574", "OMIM:618970", "UMLS:C5436505"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033544", "name": "Tolchin-le caignec syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018525", "MEDGEN:1724999", "OMIM:618971", "UMLS:C5436509"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033545", "name": "Mitochondrial dna depletion syndrome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0070450", "GARD:0018370", "MEDGEN:1770258", "OMIM:618972", "UMLS:C5436514"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033546", "name": "Neurodegeneration, infantile-onset, biotin-responsive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NERIB", "SMVT deficiency", "sodium-dependent multivitamin transporter deficiency"], "xref": ["GARD:0027272", "MEDGEN:1771692", "OMIM:618973", "Orphanet:521268", "UMLS:C5436520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033547", "name": "Li-ghorbani-weisz-hubshman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Li-Ghorgani-Weisz-Hubshman syndrome"], "xref": ["GARD:0018526", "MEDGEN:1763263", "OMIM:618974", "UMLS:C5436525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033548", "name": "Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081349", "GARD:0025807", "MEDGEN:1764743", "OMIM:618975", "UMLS:C5436530"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033549", "name": "Optic atrophy 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080840", "GARD:0016399", "MEDGEN:1720703", "OMIM:618977", "UMLS:C5436534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033551", "name": "Immunodeficiency 72 with autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0112015", "MEDGEN:1749856", "OMIM:618982", "UMLS:C5436540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033554", "name": "Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD73B", "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"], "xref": ["DOID:0112061", "GARD:0025808", "MEDGEN:1740566", "OMIM:618986", "UMLS:C5436549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033555", "name": "Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IMD73C", "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA"], "xref": ["DOID:0112062", "GARD:0018300", "MEDGEN:1734177", "OMIM:618987", "UMLS:C5436550"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033556", "name": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112376", "GARD:0025809", "MEDGEN:1755743", "OMIM:618992", "UMLS:C5436552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033557", "name": "Hemophagocytic lymphohistiocytosis, familial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["immune dysregulation and systemic hyperinflammation syndrome"], "xref": ["GARD:0016400", "MEDGEN:1736944", "OMIM:618998", "UMLS:C5436563"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033558", "name": "Autoinflammation, immune dysregulation, and eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1750270", "OMIM:618999", "UMLS:C5436572"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033559", "name": "Intellectual developmental disorder with seizures and language delay", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SETD1B-NDD", "SETD1B-Related Neurodevelopmental Disorder", "SETD1B-related neurodevelopmental disorder"], "xref": ["GARD:0018527", "MEDGEN:1740295", "OMIM:619000", "UMLS:C5436574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033560", "name": "Mitochondrial complex 1 deficiency, nuclear type 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112139", "GARD:0016401", "MEDGEN:1745427", "OMIM:619003", "UMLS:C5436576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033561", "name": "Deeah syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027368", "MEDGEN:1756624", "OMIM:619004", "Orphanet:686495", "UMLS:C5436579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033562", "name": "Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia"], "xref": ["GARD:0018528", "MEDGEN:1776912", "OMIM:619005", "UMLS:C5436585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033563", "name": "Retinitis pigmentosa 90", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112147", "GARD:0025810", "MEDGEN:1733837", "OMIM:619007", "UMLS:C5436588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033564", "name": "Oocyte maturation defect 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018498", "MEDGEN:1776094", "OMIM:619009", "UMLS:C5436597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033565", "name": "Oocyte maturation defect 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0018499", "MEDGEN:1724427", "OMIM:619011", "UMLS:C5436599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033566", "name": "Combined oxidative phosphorylation deficiency 48", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112112", "GARD:0025811", "MEDGEN:1732052", "OMIM:619012", "UMLS:C5436602"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033569", "name": "Combined oxidative phosphorylation deficiency 49", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0112110", "MEDGEN:1762338", "OMIM:619024", "UMLS:C5436616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033570", "name": "Combined oxidative phosphorylation deficiency 50", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0112111", "MEDGEN:1753519", "OMIM:619025", "UMLS:C5436623"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033572", "name": "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["IDDEBF", "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies"], "xref": ["GARD:0018529", "MEDGEN:1759589", "OMIM:619031", "UMLS:C5436646"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033613", "name": "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NEDSWMA", "cerebral palsy, spastic quadriplegic, 1", "cerebral palsy, spastic quadriplegic, type 1", "infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"], "xref": ["GARD:0010447", "MEDGEN:1736667", "MESH:C567853", "OMIM:603513", "OMIM:619026", "Orphanet:641353", "UMLS:C5436628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033614", "name": "Spastic paraplegia 83, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SPG83", "autosomal recessive spastic paraplegia type 83"], "xref": ["DOID:0112346", "GARD:0025812", "MEDGEN:1759445", "OMIM:619027", "Orphanet:631076", "UMLS:C5436637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033615", "name": "Coenzyme q10 deficiency, primary, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["COQ10D9"], "xref": ["DOID:0112138", "GARD:0016403", "MEDGEN:1740444", "OMIM:619028", "UMLS:C5436638"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033618", "name": "Vissers-bodmer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["VIBOS"], "xref": ["DOID:0081397", "MEDGEN:1776566", "OMIM:619033", "UMLS:C5436647"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033619", "name": "Myopathy, epilepsy, and progressive cerebral atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MEPCA"], "xref": ["GARD:0025813", "MEDGEN:1759100", "OMIM:619036", "UMLS:C5436652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033620", "name": "Myofibrillar myopathy 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MFM10"], "xref": ["DOID:0112108", "GARD:0025814", "MEDGEN:1769385", "OMIM:619040", "UMLS:C5436656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033621", "name": "Spinal muscular atrophy, infantile, james type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SMAJI"], "xref": ["MEDGEN:1764556", "OMIM:619042", "UMLS:C5436669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033622", "name": "Spermatogenic failure 44", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF44"], "xref": ["DOID:0112109", "MEDGEN:1750188", "OMIM:619044", "UMLS:C5436678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033630", "name": "Neurodevelopmental disorder with speech impairment and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDSID"], "xref": ["DOID:0070417", "GARD:0018530", "MEDGEN:1758434", "OMIM:619056", "UMLS:C5436699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033631", "name": "Combined oxidative phosphorylation deficiency 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COXPD51"], "xref": ["DOID:0112137", "GARD:0025815", "MEDGEN:1757992", "OMIM:619057", "UMLS:C5436703"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX10 gene.", "id": "MONDO:0033635", "name": "Mitochondrial complex iv deficiency, nuclear type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN3", "mitochondrial complex IV deficiency, nuclear type 3"], "xref": ["DOID:0070492", "GARD:0016404", "MEDGEN:1764816", "OMIM:619046", "UMLS:C5436682"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene.", "id": "MONDO:0033636", "name": "Mitochondrial complex iv deficiency, nuclear type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN4", "mitochondrial complex IV deficiency, nuclear type 4"], "xref": ["DOID:0070493", "GARD:0016405", "MEDGEN:1748100", "OMIM:619048", "UMLS:C5436683"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene.", "id": "MONDO:0033637", "name": "Mitochondrial complex iv deficiency, nuclear type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN7", "mitochondrial complex IV deficiency, nuclear type 7"], "xref": ["DOID:0070494", "GARD:0016406", "MEDGEN:1754683", "OMIM:619051", "UMLS:C5436685"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the TACO1 gene.", "id": "MONDO:0033638", "name": "Mitochondrial complex iv deficiency, nuclear type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN8", "mitochondrial complex IV deficiency, nuclear type 8"], "xref": ["DOID:0070495", "GARD:0016407", "MEDGEN:1765544", "OMIM:619052", "UMLS:C5436689"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX14 gene.", "id": "MONDO:0033639", "name": "Mitochondrial complex iv deficiency, nuclear type 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN10", "mitochondrial complex IV deficiency, nuclear type 10"], "xref": ["DOID:0070496", "GARD:0016408", "MEDGEN:1746545", "OMIM:619053", "UMLS:C5436692"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033640", "name": "Vitamin d-dependent rickets, type 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["VDDR3"], "xref": ["GARD:0018171", "MEDGEN:1725534", "OMIM:619073", "UMLS:C5436733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033641", "name": "Cleft palate, proliferative retinopathy, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CPPRDD"], "xref": ["MEDGEN:1765503", "OMIM:619074", "UMLS:C5436739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033642", "name": "Bachmann-Bupp syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Bachmann-Bupp syndrome", "NEDABA", "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"], "xref": ["GARD:0017987", "MEDGEN:1775930", "OMIM:619075", "Orphanet:544488", "UMLS:C5436741"]}
{"category": ["biolink:Disease"], "description": "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.", "id": "MONDO:0033643", "name": "Inflammatory bowel disease 30", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["IBD30", "inflammatory bowel disease (Crohn disease) 30"], "xref": ["DOID:0112154", "MEDGEN:1737985", "OMIM:619079", "UMLS:C5436750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033644", "name": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MRCS1"], "xref": ["GARD:0018383", "MEDGEN:1755099", "OMIM:619082", "UMLS:C5436769"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene.", "id": "MONDO:0033645", "name": "Mitochondrial complex iv deficiency, nuclear type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN11", "mitochondrial complex IV deficiency, nuclear type 11"], "xref": ["DOID:0070497", "GARD:0016409", "MEDGEN:1760275", "OMIM:619054", "UMLS:C5436694"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene.", "id": "MONDO:0033646", "name": "Mitochondrial complex iv deficiency, nuclear type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN12", "mitochondrial complex IV deficiency, nuclear type 12"], "xref": ["DOID:0070498", "GARD:0016410", "MEDGEN:1745691", "OMIM:619055", "UMLS:C5436695"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene.", "id": "MONDO:0033649", "name": "Mitochondrial complex iv deficiency, nuclear type 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN14", "mitochondrial complex IV deficiency, nuclear type 14"], "xref": ["DOID:0070499", "GARD:0016411", "MEDGEN:1763505", "OMIM:619058", "UMLS:C5436710"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX8A gene.", "id": "MONDO:0033650", "name": "Mitochondrial complex iv deficiency, nuclear type 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN15", "mitochondrial complex IV deficiency, nuclear type 15"], "xref": ["DOID:0070500", "GARD:0016412", "MEDGEN:1773430", "OMIM:619059", "UMLS:C5436712"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene.", "id": "MONDO:0033651", "name": "Mitochondrial complex iv deficiency, nuclear type 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN16", "mitochondrial complex IV deficiency, nuclear type 16"], "xref": ["DOID:0070501", "GARD:0016413", "MEDGEN:1762514", "OMIM:619060", "UMLS:C5436714"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene.", "id": "MONDO:0033652", "name": "Mitochondrial complex iv deficiency, nuclear type 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN17", "mitochondrial complex IV deficiency, nuclear type 17"], "xref": ["DOID:0070502", "GARD:0016414", "MEDGEN:1730423", "OMIM:619061", "UMLS:C5436718"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene.", "id": "MONDO:0033653", "name": "Mitochondrial complex iv deficiency, nuclear type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN18", "mitochondrial complex IV deficiency, nuclear type 18"], "xref": ["DOID:0070503", "GARD:0016415", "MEDGEN:1752734", "OMIM:619062", "UMLS:C5436720"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy.", "id": "MONDO:0033654", "name": "Mitochondrial complex iv deficiency, nuclear type 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN19", "mitochondrial complex IV deficiency, nuclear type 19"], "xref": ["DOID:0070504", "GARD:0016416", "MEDGEN:1729504", "OMIM:619063", "UMLS:C5436723"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene.", "id": "MONDO:0033655", "name": "Mitochondrial complex iv deficiency, nuclear type 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN20", "mitochondrial complex IV deficiency, nuclear type 20"], "xref": ["DOID:0070505", "GARD:0016417", "MEDGEN:1771040", "OMIM:619064", "UMLS:C5436726"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COXFA4 gene.", "id": "MONDO:0033656", "name": "Mitochondrial complex iv deficiency, nuclear type 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["MC4DN21", "mitochondrial complex IV deficiency, nuclear type 21"], "xref": ["DOID:0070506", "GARD:0016418", "MEDGEN:1732562", "OMIM:619065", "UMLS:C5436727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033657", "name": "Leukodystrophy, hypomyelinating, 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HLD20"], "xref": ["DOID:0112153", "GARD:0025816", "MEDGEN:1765130", "OMIM:619071", "UMLS:C5436730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033658", "name": "Neurodevelopmental disorder with seizures and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDSEBA"], "xref": ["GARD:0018531", "MEDGEN:1748227", "OMIM:619072", "UMLS:C5436732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033662", "name": "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NEDMISB"], "xref": ["GARD:0018532", "MEDGEN:1755716", "OMIM:619076", "UMLS:C5436747"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.", "id": "MONDO:0033664", "name": "Kilquist syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["KILQS", "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"], "xref": ["GARD:0027953", "MEDGEN:1742639", "OMIM:619080", "Orphanet:633021", "UMLS:C5436756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033665", "name": "Hearing loss, autosomal dominant 78", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112159", "GARD:0018156", "MEDGEN:1777362", "OMIM:619081", "UMLS:C5436768"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the SLC12A2 gene. It is characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.", "id": "MONDO:0033667", "name": "Delpire-mcneill syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["DELMNES", "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"], "xref": ["GARD:0018533", "MEDGEN:1725056", "OMIM:619083", "Orphanet:633024", "UMLS:C5436771"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033668", "name": "Hearing loss, autosomal dominant 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112160", "GARD:0018157", "MEDGEN:1735338", "OMIM:619086", "UMLS:C5436772"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033669", "name": "Noonan syndrome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NS13"], "xref": ["DOID:0112161", "GARD:0016419", "MEDGEN:1761918", "NCIT:C177121", "OMIM:619087", "UMLS:C5436773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033670", "name": "Hearing loss, autosomal recessive 116", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112162", "GARD:0022664", "MEDGEN:1726617", "OMIM:619093", "UMLS:C5436789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033671", "name": "Spermatogenic failure 45", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF45"], "xref": ["DOID:0112163", "MEDGEN:1776221", "OMIM:619094", "UMLS:C5436791"]}
{"category": ["biolink:Disease"], "description": "Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.", "id": "MONDO:0033672", "name": "Duane anomaly-myopathy-scoliosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018842", "Orphanet:50817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033673", "name": "Spermatogenic failure 46", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SPGF46"], "xref": ["DOID:0112164", "MEDGEN:1726728", "OMIM:619095", "UMLS:C5436799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033682", "name": "Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022070", "MEDGEN:1799322", "Orphanet:508533", "UMLS:C5567899"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033683", "name": "Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MYSM1 deficiency"], "xref": ["GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.", "id": "MONDO:0033717", "name": "Congenital cerebellar ataxia due to rnu12 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022075", "MEDGEN:1799317", "Orphanet:512260", "UMLS:C5567894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033809", "name": "Isolated blepharochalasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022124", "MEDGEN:1801812", "Orphanet:519390", "UMLS:C5681341"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033810", "name": "Isolated iridoschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022125", "MEDGEN:509720", "Orphanet:519392", "UMLS:C0154919", "icd11.foundation:1870961422"]}
{"category": ["biolink:Disease"], "description": "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.", "id": "MONDO:0033816", "name": "Thygeson superficial punctate keratopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022131", "MEDGEN:1638070", "Orphanet:519406", "UMLS:C4551636"]}
{"category": ["biolink:Disease"], "description": "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism", "id": "MONDO:0033818", "name": "Terrien marginal degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Terrien's marginal degeneration"], "xref": ["GARD:0022133", "MEDGEN:543256", "Orphanet:519410", "UMLS:C0271283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033821", "name": "Fungal keratitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022134", "MEDGEN:687913", "NCIT:C128370", "Orphanet:519930", "UMLS:C1262117", "icd11.foundation:712798367"]}
{"category": ["biolink:Disease"], "description": "A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.", "id": "MONDO:0033838", "name": "Radiation-induced plexopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022137", "MEDGEN:1809151", "Orphanet:521123", "UMLS:C5681446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033839", "name": "Osteoradionecrosis of the mandible", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022138", "MEDGEN:713081", "Orphanet:521127", "UMLS:C1290728", "icd11.foundation:677862301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033850", "name": "Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022143", "MEDGEN:1800474", "Orphanet:521411", "UMLS:C5569051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033853", "name": "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022144", "MEDGEN:1814478", "Orphanet:521432", "UMLS:C5681444"]}
{"category": ["biolink:Disease"], "description": "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.", "id": "MONDO:0033856", "name": "Lama5-related multisystemic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:n_of_one", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022146", "MEDGEN:1806009", "Orphanet:521450", "UMLS:C5681442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033862", "name": "Primary autoimmune enteropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022147", "MEDGEN:1842843", "Orphanet:522037", "UMLS:C5681441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033864", "name": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Baker-Gordon syndrome"], "xref": ["GARD:0017962", "MEDGEN:1648431", "OMIM:618218", "Orphanet:522077", "UMLS:C4748715"]}
{"category": ["biolink:Disease"], "description": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.", "id": "MONDO:0033885", "name": "Mitochondrial complex iv deficiency, nuclear-type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Cytochrome C Oxidase Deficiency", "cytochrome-C oxidase deficiency", "cytochrome-c oxidase deficiency disease", "isolated COX deficiency", "isolated mitochondrial respiratory chain complex IV deficiency", "mitochondrial complex IV deficiency", "mitochondrial respiratory complex IV deficiency"], "xref": ["DOID:3762", "GARD:0000048", "MEDGEN:1830397", "MESH:D030401", "NCIT:C98910", "OMIMPS:220110", "Orphanet:254905", "SCTID:67434000", "UMLS:C5779825"]}
{"category": ["biolink:Disease"], "description": "A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to excessive thyroid hormone production and a swollen thyroid gland. Children with this disease typically experience symptoms of an overactive thyroid, including rapid heartbeat, weight loss, tremors, and excessive sweating.", "id": "MONDO:0033925", "name": "Pediatric-onset graves disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022190", "MEDGEN:1842979", "Orphanet:525731", "UMLS:C5680179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033926", "name": "Prepubertal anorexia nervosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022191", "MEDGEN:1799990", "Orphanet:525738", "UMLS:C5568567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033938", "name": "Acute radiation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Acute radiation sickness"], "xref": ["GARD:0021896", "MESH:D054508", "Orphanet:454831"]}
{"category": ["biolink:Disease"], "description": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.", "id": "MONDO:0033946", "name": "Hereditary angioedema with c1inh deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["angioedema, hereditary, 1 and 2", "angioedema, hereditary, type 1/2"], "xref": ["DOID:0080939", "GARD:0022194", "MEDGEN:1812520", "OMIM:106100", "Orphanet:528623", "UMLS:C4552294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033948", "name": "Acquired angioedema with c1inh deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022196", "MEDGEN:1846342", "Orphanet:528663", "UMLS:C5848086"]}
{"category": ["biolink:Disease"], "description": "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.", "id": "MONDO:0033954", "name": "Monoclonal mast cell activation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["primary MCAS", "primary mast cell activation syndrome"], "xref": ["GARD:0012980", "ICD10CM:D89.41", "MEDGEN:1672509", "NCIT:C181652", "Orphanet:529468", "UMLS:C4267893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033968", "name": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022204", "MEDGEN:1799956", "Orphanet:529977", "UMLS:C5568533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033969", "name": "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022205", "MEDGEN:1799955", "Orphanet:529980", "UMLS:C5568532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0033980", "name": "Rela fusion-positive ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080892", "GARD:0022210", "MEDGEN:927113", "NCIT:C129351", "Orphanet:530792", "UMLS:C4289581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034021", "name": "Spondylodysplastic ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["spondylodysplastic EDS"], "xref": ["GARD:0022214", "MEDGEN:1814455", "Orphanet:536471", "UMLS:C5680154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034022", "name": "Bethlem myopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BTHLM2", "Bethlem myopathy 2", "Bethlem myopathy caused by mutation in COL12A1", "Bethlem myopathy type 2", "COL12A1 Bethlem myopathy", "EDS, myopathic type", "Ehlers-Danlos syndrome, myopathic type", "myopathic EDS", "myopathic Ehlers-Danlos syndrome"], "xref": ["DOID:0061201", "GARD:0016121", "MEDGEN:907426", "OMIM:616471", "Orphanet:536516", "UMLS:C4225313"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.", "id": "MONDO:0034041", "name": "Congenital axonal neuropathy with encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022218", "MEDGEN:1814475", "Orphanet:538101", "UMLS:C5681314"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034054", "name": "Severe combined immunodeficiency due to cd70 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lymphoproliferative syndrome 3"], "xref": ["GARD:0017978", "MEDGEN:1799982", "OMIM:618261", "Orphanet:538958", "UMLS:C5568559"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034092", "name": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022231", "MEDGEN:1807322", "Orphanet:543470", "UMLS:C5681321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034103", "name": "Infection-related hemolytic uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022234", "MEDGEN:1826072", "Orphanet:544482", "UMLS:C5680165"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034106", "name": "Developmental and epileptic encephalopathy, 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEE73", "developmental and epileptic encephalopathy 73", "epileptic encephalopathy, early infantile, 73", "rnf13-related severe early-onset epileptic encephalopathy"], "xref": ["DOID:0112209", "GARD:0017988", "MEDGEN:1681654", "OMIM:618379", "Orphanet:544503", "UMLS:C5193065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034109", "name": "Congenital myopathy with reduced type 2 muscle fibers", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myopathy, congenital, with fast-twitch (type II) fiber atrophy", "myopathy, congenital, with fast-twitch (type II) fibre atrophy"], "xref": ["DOID:0081346", "GARD:0017989", "MEDGEN:1672638", "OMIM:618414", "Orphanet:544602", "UMLS:C5193081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034110", "name": "Atypical fanconi syndrome-neonatal hyperinsulinism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022238", "MEDGEN:1830116", "Orphanet:544628", "UMLS:C5681324"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034121", "name": "Nad(p)hx dehydratase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017990", "MEDGEN:1681210", "OMIM:618321", "Orphanet:555402", "UMLS:C5193026"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034127", "name": "Iga pemphigus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0080851", "GARD:0022242", "MEDGEN:697519", "Orphanet:555905", "UMLS:C1274167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034142", "name": "Pancreatic agenesis-holoprosencephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017992", "MEDGEN:1808942", "Orphanet:556955", "UMLS:C5681334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034143", "name": "Early-onset calcifying leukoencephalopathy-skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022246", "Orphanet:556985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034145", "name": "Oculocerebrodental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017993", "MEDGEN:1674537", "OMIM:618440", "Orphanet:557003", "UMLS:C5193101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034146", "name": "Spastic ataxia-dysarthria due to glutaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022247", "MEDGEN:1814477", "Orphanet:557056", "UMLS:C5681336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034150", "name": "Idiopathic gastroparesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022249", "MEDGEN:540450", "Orphanet:558411", "UMLS:C0267171"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034189", "name": "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022250", "MEDGEN:1812237", "Orphanet:562639", "UMLS:C5680117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034204", "name": "Syndromic congenital sodium diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022262", "MEDGEN:1805017", "Orphanet:563708", "UMLS:C5680120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034212", "name": "Methotrexate toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:108272", "Orphanet:565782", "UMLS:C0568062"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034216", "name": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["resistance to thyroid hormone alpha"], "xref": ["GARD:0022275", "MEDGEN:1830097", "Orphanet:566231", "UMLS:C5680127"]}
{"category": ["biolink:Disease"], "description": "Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.", "id": "MONDO:0034556", "name": "Vibratory angioedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0017901", "MEDGEN:99175", "Orphanet:493348", "UMLS:C0473546", "icd11.foundation:1471948086"]}
{"category": ["biolink:Disease"], "description": "A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.", "id": "MONDO:0034676", "name": "Overgrowth syndrome with 2q37 translocation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022032", "MEDGEN:1798659", "Orphanet:498488", "UMLS:C5567236"]}
{"category": ["biolink:Disease"], "description": "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.", "id": "MONDO:0034846", "name": "Primary desmosis coli", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022268", "MEDGEN:1812159", "Orphanet:565641", "UMLS:C5680125"]}
{"category": ["biolink:Disease"], "description": "A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.", "id": "MONDO:0034895", "name": "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["serpentine-like syndrome"], "xref": ["GARD:0022076", "MEDGEN:1807957", "Orphanet:514352", "UMLS:C5680208"]}
{"category": ["biolink:Disease"], "description": "A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.", "id": "MONDO:0034971", "name": "Isolated congenital entropion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022123", "Orphanet:519386", "icd11.foundation:1290880184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034976", "name": "Iatrogenic creutzfeldt-jakob disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_iatrogenic_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0022329", "MEDGEN:908476", "NANDO:1200193", "Orphanet:576379", "UMLS:C2349757", "icd11.foundation:437591130"]}
{"category": ["biolink:Disease"], "description": "A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.", "id": "MONDO:0034978", "name": "Isolated foveal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022127", "ICD10CM:H35.8", "MEDGEN:376923", "Orphanet:519398", "UMLS:C1850993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0034987", "name": "Intraductal tubulopapillary neoplasm of pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022331", "MEDGEN:459415", "NCIT:C95506", "Orphanet:580572", "UMLS:C2987189"]}
{"category": ["biolink:Disease"], "description": "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.", "id": "MONDO:0034989", "name": "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017948", "MEDGEN:1799995", "Orphanet:508498", "UMLS:C5568572"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.", "id": "MONDO:0034991", "name": "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017949", "MEDGEN:1799324", "Orphanet:508512", "UMLS:C5567901"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035004", "name": "Serine biosynthesis pathway deficiency, infantile/juvenile form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022334", "MEDGEN:1830119", "Orphanet:583595", "UMLS:C5681678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035008", "name": "Isolated splenic vein thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022338", "MEDGEN:544034", "Orphanet:583856", "UMLS:C0272416", "icd11.foundation:121618859"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035009", "name": "Isolated mesenteric vein thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022339", "MEDGEN:120599", "Orphanet:583861", "UMLS:C0267412", "icd11.foundation:213868120"]}
{"category": ["biolink:Disease"], "description": "A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.", "id": "MONDO:0035018", "name": "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022142", "MEDGEN:1799315", "Orphanet:521308", "UMLS:C5567892"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035027", "name": "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022145", "MEDGEN:1830117", "Orphanet:521445", "UMLS:C5681443"]}
{"category": ["biolink:Disease"], "description": "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.", "id": "MONDO:0035105", "name": "Diaphragmatic hernia-short bowel-asplenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022193", "MEDGEN:1811530", "Orphanet:527468", "UMLS:C5681454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035112", "name": "Acute myeloid leukemia with bcr-abl1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["22)(q34.1", "AML with BCR-ABL1", "AML with t(9", "acute myeloid leukaemia with t(9", "acute myeloid leukemia with t(9", "q11.2)"], "xref": ["DOID:0080976", "GARD:0022340", "MEDGEN:1377153", "NCIT:C129785", "Orphanet:585867", "UMLS:C4329268"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035121", "name": "Myeloid/lymphoid neoplasm associated with jak2 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["myeloid/lymphoid neoplasms with PCM1-JAK2"], "xref": ["GARD:0022355", "MEDGEN:1689091", "NCIT:C129853", "Orphanet:589542", "UMLS:C5229383"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035124", "name": "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022358", "MEDGEN:1806249", "Orphanet:589608", "UMLS:C5680313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035133", "name": "Phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Chung-Jansen syndrome", "developmental delay, intellectual disability, obesity, and dysmorphic features"], "xref": ["GARD:0022367", "MEDGEN:1641154", "OMIM:617991", "Orphanet:589905", "UMLS:C4693860"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035136", "name": "Isolated melanotic schwannoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022368", "Orphanet:590539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035149", "name": "Secondary erythromelalgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Secondary erythermalgia"], "xref": ["GARD:0022201", "ICD10CM:I73.8", "MEDGEN:639378", "Orphanet:529864", "UMLS:C0543820", "icd11.foundation:1009405597"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.", "id": "MONDO:0035151", "name": "17q24.2 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Del(17)(q24)"], "xref": ["GARD:0022202", "MEDGEN:1808156", "Orphanet:529962", "UMLS:C5680185"]}
{"category": ["biolink:Disease"], "description": "A male infertility disorder characterized by defective sperm morphology, specifically the absence of the sperm head which prevents natural or assisted fertilization.", "id": "MONDO:0035153", "name": "Male infertility due to acephalic spermatozoa", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Acephalic spermatozoa syndrome"], "xref": ["DOID:0112311", "GARD:0017971", "Orphanet:529970"]}
{"category": ["biolink:Disease"], "description": "A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.", "id": "MONDO:0035159", "name": "Dermoid or epidermoid cyst of the central nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Dermoid or epidermoid cyst of the CNS"], "xref": ["GARD:0022206", "ICD10CM:Q07.8", "MEDGEN:1842182", "Orphanet:530033", "UMLS:C5680190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035161", "name": "Progressive dementia with neuroserpin inclusion bodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late-onset familial encephalopathy with neuroserpin inclusion bodies"], "xref": ["GARD:0022208", "ICD10CM:G40.3", "MEDGEN:1842194", "Orphanet:530303", "UMLS:C5680143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035162", "medic_stub": true, "name": "obsolete PIK3CA-related overgrowth syndrome", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.", "id": "MONDO:0035173", "name": "9q21.13 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022212", "ICD10CM:F78.1", "MEDGEN:1803709", "Orphanet:531151", "UMLS:C5681312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035220", "name": "Plg-related hereditary angioedema with normal c1inh", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["PLG-related HAE with normal C1 inhibitor"], "xref": ["GARD:0022217", "ICD10CM:D84.1", "MEDGEN:1843266", "Orphanet:537072", "UMLS:C5680155"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.", "id": "MONDO:0035235", "name": "Classic pyoderma gangrenosum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Ulcerative pyoderma gangrenosum"], "xref": ["GARD:0022220", "MEDGEN:1814456", "Orphanet:538863", "UMLS:C5680157"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.", "id": "MONDO:0035236", "name": "Pustular pyoderma gangrenosum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022221", "MEDGEN:1814476", "Orphanet:538866", "UMLS:C5681317"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.", "id": "MONDO:0035237", "name": "Bullous pyoderma gangrenosum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Phemphigoid pyoderma gangrenosum"], "xref": ["GARD:0022222", "MEDGEN:590609", "Orphanet:538869", "UMLS:C0406687"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.", "id": "MONDO:0035238", "name": "Vegetative pyoderma gangrenosum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Granulomatous pyoderma gangrenosum"], "xref": ["GARD:0022223", "MEDGEN:1842944", "Orphanet:538872", "UMLS:C5680158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035290", "name": "Atypical hemolytic uremic syndrome with complement gene abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["Atypical HUS with complement gene abnormality", "aHUS with complement gene abnormality"], "xref": ["GARD:0017986", "ICD10CM:D58.8", "MEDGEN:1842625", "Orphanet:544472", "UMLS:C5680166"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035293", "name": "Streptococcus pneumoniae-associated hemolytic uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["S. pneumoniae-associated HUS", "SP-HUS"], "xref": ["GARD:0022235", "ICD10CM:D58.8", "MEDGEN:1842720", "Orphanet:544493", "UMLS:C5680164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035295", "name": "Congenital primary megaureter, refluxing and obstructed form", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022236", "ICD10CM:Q62.2", "MEDGEN:1843335", "Orphanet:544578", "UMLS:C5681326"]}
{"category": ["biolink:Disease"], "description": "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.", "id": "MONDO:0035312", "name": "Fibrohistiocytic inflammatory pseudotumor of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022239", "ICD10CM:K75.8", "MEDGEN:1843230", "Orphanet:555434", "UMLS:C5681328"]}
{"category": ["biolink:Disease"], "description": "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.", "id": "MONDO:0035313", "name": "Lymphoplasmacytic inflammatory pseudotumor of the liver", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["IgG4-related inflammatory pseudotumor of the liver"], "xref": ["GARD:0022240", "ICD10CM:K75.8", "MEDGEN:1843135", "Orphanet:555437", "UMLS:C5680170"]}
{"category": ["biolink:Disease"], "description": "A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.", "id": "MONDO:0035320", "name": "Early-onset familial hypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Early-onset familial hyperreninemic hypoaldosteronism", "Severe aldosterone synthase deficiency"], "xref": ["GARD:0022243", "ICD10CM:E27.4", "MEDGEN:1842560", "Orphanet:556030", "UMLS:C5680171"]}
{"category": ["biolink:Disease"], "description": "A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.", "id": "MONDO:0035321", "name": "Late-onset familial hypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Late-onset familial hyperreninemic hypoaldosteronism", "Mild aldosterone synthase deficiency"], "xref": ["GARD:0022244", "ICD10CM:E27.4", "MEDGEN:1843290", "Orphanet:556037", "UMLS:C5680172"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.", "id": "MONDO:0035337", "name": "Duane retraction syndrome with congenital deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DRS with deafness", "DRS with hearing loss", "DURS with deafness", "DURS with hearing loss", "Duane retraction syndrome with congenital hearing loss"], "xref": ["GARD:0017968", "MEDGEN:1804304", "Orphanet:529574", "UMLS:C5680193"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.", "id": "MONDO:0035344", "name": "Acute bilirubin encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ABE", "Acute kernicterus"], "xref": ["GARD:0022197", "MEDGEN:1808922", "Orphanet:529799", "UMLS:C5671282"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.", "id": "MONDO:0035345", "name": "Chronic bilirubin encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BIND", "Bilirubin-induced neurological dysfunction", "CBE", "KSD", "Kernicterus spectrum disorder"], "xref": ["GARD:0022198", "MEDGEN:1806573", "Orphanet:529808", "UMLS:C5575229"]}
{"category": ["biolink:Disease"], "description": "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.", "id": "MONDO:0035349", "name": "Localized dystrophic epidermolysis bullosa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["localised DEB", "localized DEB"], "xref": ["GARD:0022388", "MEDGEN:634276", "Orphanet:595356", "UMLS:C0474885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035350", "name": "Letrozole toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1826119", "Orphanet:529831", "UMLS:C5681461"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035357", "name": "Portosinusoidal vascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PSVD"], "xref": ["GARD:0022393", "MEDGEN:1807080", "Orphanet:596937", "UMLS:C5691366"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.", "id": "MONDO:0035362", "name": "Trim22-related inflammatory bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TRIM22-related IBD"], "xref": ["GARD:0022395", "MEDGEN:1842464", "Orphanet:597201", "UMLS:C5680271"]}
{"category": ["biolink:Disease"], "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.", "id": "MONDO:0035370", "name": "Alpi-related inflammatory bowel disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022400", "MEDGEN:1842198", "Orphanet:597887", "UMLS:C5681586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035375", "name": "Multisystem inflammatory syndrome in children and adults", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MIS-C/A"], "xref": ["GARD:0022403", "MEDGEN:1842571", "Orphanet:598363", "UMLS:C5680268"]}
{"category": ["biolink:Disease"], "description": "A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.", "id": "MONDO:0035400", "name": "Seronegative autoimmune hepatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Seronegative AIH", "autoantibody-negative autoimmune hepatitis"], "xref": ["GARD:0022253", "MEDGEN:1804383", "Orphanet:563589", "UMLS:C5680121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035401", "name": "Isolated anencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022254", "Orphanet:563609", "icd11.foundation:452325024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035402", "name": "Isolated exencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022255", "MEDGEN:120577", "Orphanet:563612", "UMLS:C0266453"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035403", "name": "Serous cystadenoma of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Serous cystadenoma of ovary in childhood"], "xref": ["GARD:0022256", "ICD10CM:D27", "MEDGEN:1632405", "Orphanet:563666", "UMLS:C4708593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035404", "name": "Mucinous cystadenoma of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Mucinous cystadenoma of ovary in childhood"], "xref": ["GARD:0022257", "ICD10CM:D27", "MEDGEN:1642057", "Orphanet:563671", "UMLS:C4708594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035405", "name": "Seromucinous cystadenoma of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Seromucinous cystadenoma of ovary in childhood"], "xref": ["GARD:0022258", "ICD10CM:D27", "MEDGEN:1702847", "Orphanet:563676", "UMLS:C5231009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035406", "name": "Furuncular myiasis due to dermatobia hominis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["furunculoid myiasis due to Dermatobia hominis", "furunculous myiasis due to Dermatobia hominis"], "xref": ["GARD:0022259", "MEDGEN:548117", "Orphanet:563684", "UMLS:C0277400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035407", "name": "Furuncular myiasis due to cordylobia anthropophaga", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["furunculoid myiasis due to Cordylobia anthropophaga", "furunculous myiasis due to Cordylobia anthropophaga"], "xref": ["GARD:0022260", "MEDGEN:1386398", "Orphanet:563687", "UMLS:C4511624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035408", "name": "Furuncular myiasis due to cordylobia rodhaini", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["furunculoid myiasis due to Cordylobia rodhaini", "furunculous myiasis due to Cordylobia rodhaini"], "xref": ["GARD:0022261", "MEDGEN:1685143", "Orphanet:563690", "UMLS:C5231033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035410", "name": "Isolated congenital aglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022263", "ICD10CM:Q38.3", "MEDGEN:57859", "Orphanet:563951", "UMLS:C0158663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035411", "name": "Isolated congenital hypoglossia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022264", "ICD10CM:Q38.3", "MEDGEN:10029", "Orphanet:563954", "UMLS:C0025988"]}
{"category": ["biolink:Disease"], "description": "A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.", "id": "MONDO:0035423", "name": "Primary triglyceride deposit cardiomyovasculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["P-TGCV", "primary neutral lipid storage disease with severe cardiovascular involvement"], "xref": ["GARD:0022267", "ICD10CM:E75.5", "Orphanet:565612", "SCTID:1279844009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035432", "name": "Pomgnt2-related limb-girdle muscular dystrophy r24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LGMD type R24", "POMGNT2-related LGMD R24", "POMGNT2-related muscular dystrophy", "limb-girdle muscular dystrophy type R24"], "xref": ["GARD:0022271", "MEDGEN:1830095", "Orphanet:565899", "UMLS:C5680123"]}
{"category": ["biolink:Disease"], "description": "A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.", "id": "MONDO:0035437", "name": "Cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAIN"], "xref": ["GARD:0022273", "ICD10CM:D89.8", "MEDGEN:1799987", "Orphanet:566067", "UMLS:C5568564"]}
{"category": ["biolink:Disease"], "description": "A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.", "id": "MONDO:0035441", "name": "Congenital autosomal recessive small-platelet thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CARST"], "xref": ["GARD:0022274", "ICD10CM:D69.4", "MEDGEN:1802913", "Orphanet:566192", "UMLS:C5680129"]}
{"category": ["biolink:Disease"], "description": "A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.", "id": "MONDO:0035444", "name": "Acute mast cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Acute MCL"], "xref": ["GARD:0022276", "ICD10CM:C94.3", "MEDGEN:1843106", "Orphanet:566393", "UMLS:C5680128"]}
{"category": ["biolink:Disease"], "description": "A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.", "id": "MONDO:0035445", "name": "Chronic mast cell leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Chronic MCL"], "xref": ["GARD:0022277", "ICD10CM:C94.3", "MEDGEN:1843226", "Orphanet:566396", "UMLS:C5680130"]}
{"category": ["biolink:Disease"], "description": "A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.", "id": "MONDO:0035447", "name": "Liver adenomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hepatic adenomatosis"], "xref": ["GARD:0022278", "ICD10CM:D13.4", "MEDGEN:1803906", "Orphanet:566841", "UMLS:C5680136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035449", "name": "Atelencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["atelencephalic microcephaly"], "xref": ["GARD:0022280", "MEDGEN:98461", "Orphanet:566852", "UMLS:C0431348"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035450", "name": "Aprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022281", "MEDGEN:140908", "NCIT:C98824", "Orphanet:566857", "UMLS:C0431349", "icd11.foundation:1740361952"]}
{"category": ["biolink:Disease"], "description": "A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.", "id": "MONDO:0035452", "name": "Mueller-weiss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Brailsford disease", "Mueller-Weiss osteonecrosis of the tarsal bone"], "xref": ["GARD:0022283", "MEDGEN:1708314", "Orphanet:566943", "UMLS:C4761149"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035459", "name": "Idiopathic multidrug-resistant nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022287", "ICD10CM:N04.8", "MEDGEN:1842472", "Orphanet:567550", "UMLS:C5681293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035460", "name": "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression"], "xref": ["GARD:0022288", "ICD10CM:N04.8", "MEDGEN:1842217", "Orphanet:567552", "UMLS:C5680133"]}
{"category": ["biolink:Disease"], "description": "A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.", "id": "MONDO:0035472", "name": "Gjc2-related late-onset primary lymphedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022299", "MEDGEN:1809328", "Orphanet:568051", "UMLS:C5681305"]}
{"category": ["biolink:Disease"], "description": "A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.", "id": "MONDO:0035473", "name": "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["WILD syndrome", "disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome"], "xref": ["GARD:0022300", "MEDGEN:1799992", "Orphanet:568056", "UMLS:C5568569"]}
{"category": ["biolink:Disease"], "description": "A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.", "id": "MONDO:0035475", "name": "Ephb4-related lymphatic-related hydrops fetalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EPHB4-related LRHF/GLD", "EPHB4-related generalised lymphatic dysplasia with atrial septal defect", "EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis", "EPHB4-related generalized lymphatic dysplasia with atrial septal defect", "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"], "xref": ["GARD:0022302", "MEDGEN:1802765", "Orphanet:568065", "UMLS:C5680140"]}
{"category": ["biolink:Disease"], "description": "A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.", "id": "MONDO:0035499", "name": "Celsr1-related late-onset primary lymphedema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022306", "MEDGEN:1802645", "Orphanet:569816", "UMLS:C5681848"]}
{"category": ["biolink:Disease"], "description": "A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.", "id": "MONDO:0035500", "name": "Congenital primary lymphedema of gordon", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["VEGFC-related congenital primary lymphedema"], "xref": ["GARD:0022307", "MEDGEN:1804948", "Orphanet:569821", "UMLS:C5680138"]}
{"category": ["biolink:Disease"], "description": "A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of iRicinus communis/i, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.", "id": "MONDO:0035511", "name": "Ricin poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022311", "ICD10CM:T62.2", "Orphanet:570470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035521", "name": "Blepharophimosis-ptosis-epicanthus inversus syndrome plus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["3q23 microdeletion syndrome", "BPES plus"], "xref": ["GARD:0022312", "MEDGEN:1761196", "Orphanet:572333", "UMLS:C5437588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035524", "name": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BPES type 1", "blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"], "xref": ["GARD:0018008", "MEDGEN:1843155", "Orphanet:572354", "UMLS:C5680365"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035525", "name": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["BPES type 2", "blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"], "xref": ["GARD:0010213", "MEDGEN:1842581", "Orphanet:572361", "UMLS:C5680363"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.", "id": "MONDO:0035534", "name": "Donson-related microcephaly-short stature-limb abnormalities spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022314", "MEDGEN:1814482", "Orphanet:572761", "UMLS:C5681722"]}
{"category": ["biolink:Disease"], "description": "A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.", "id": "MONDO:0035540", "name": "Pheochromocytoma-paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022315", "MEDGEN:1826130", "Orphanet:573163", "UMLS:C5681712"]}
{"category": ["biolink:Disease"], "description": "A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.", "id": "MONDO:0035551", "name": "Cathepsin a-related arteriopathy-strokes-leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CARASAL"], "xref": ["GARD:0022320", "ICD10CM:I67.8", "MEDGEN:1804103", "Orphanet:575553", "UMLS:C5680354"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035562", "name": "Acquired human prion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["infectious human prion disease"], "xref": ["GARD:0022328", "MEDGEN:1842786", "Orphanet:576360", "UMLS:C5680357"]}
{"category": ["biolink:Disease"], "description": "A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.", "id": "MONDO:0035584", "name": "Punctate inner choroidopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0007503", "ICD10CM:H31.0", "MEDGEN:152679", "Orphanet:580951", "UMLS:C0730321", "icd11.foundation:1322994548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035586", "name": "Cramp-fasciculation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0006205", "ICD10CM:G90.8", "MEDGEN:148299", "Orphanet:581271", "UMLS:C0751381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035592", "name": "Congenital infiltrating lipomatosis of the face", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CIL-F", "facial infused lipomatosis", "fibroadipose infiltrating lipomatosis"], "xref": ["GARD:0022333", "ICD10CM:Q87.3", "MEDGEN:1814459", "Orphanet:583097", "UMLS:C5680341", "icd11.foundation:1669603167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035605", "name": "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022341", "MEDGEN:396322", "NCIT:C80328", "Orphanet:585877", "UMLS:C2698313"]}
{"category": ["biolink:Disease"], "description": "A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.", "id": "MONDO:0035614", "name": "Sporadic fatal insomnia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022349", "ICD10CM:A81.9", "MEDGEN:1799312", "Orphanet:586130", "UMLS:C5567889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035639", "name": "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["22)(q34.1", "BCR-ABL1", "MPAL with t(9", "q11.2)"], "xref": ["GARD:0022354", "ICD10CM:C92.7", "MEDGEN:414807", "Orphanet:589534", "UMLS:C2826037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035642", "name": "Mixed phenotype acute leukemia with t(v;11q23.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["11q23.3)", "KMT2A rearranged", "MLL rearranged", "MPAL with t(v"], "xref": ["GARD:0022357", "ICD10CM:C92.6", "MEDGEN:443130", "NCIT:C82203", "Orphanet:589595", "UMLS:C2826048"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035646", "name": "Congenital-onset steinert myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Congenital-onset Steinert disease", "Congenital-onset myotonic dystrophy type 1"], "xref": ["GARD:0022361", "ICD10CM:G71.1", "Orphanet:589821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035647", "name": "Childhood-onset steinert myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Childhood-onset Steinert disease", "Childhood-onset myotonic dystrophy type 1"], "xref": ["GARD:0022362", "ICD10CM:G71.1", "MEDGEN:1842487", "Orphanet:589824", "UMLS:C5680307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035648", "name": "Juvenile-onset steinert myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Juvenile-onset Steinert disease", "Juvenile-onset myotonic dystrophy type 1"], "xref": ["GARD:0022363", "ICD10CM:G71.1", "MEDGEN:1843227", "Orphanet:589827", "UMLS:C5680306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035649", "name": "Adult-onset steinert myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Adult-onset Steinert disease", "Adult-onset myotonic dystrophy type 1"], "xref": ["GARD:0022364", "ICD10CM:G71.1", "MEDGEN:1843180", "Orphanet:589830", "UMLS:C5680309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035650", "name": "Late-onset steinert myotonic dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Late-onset Steinert disease", "Late-onset myotonic dystrophy type 1"], "xref": ["GARD:0022365", "ICD10CM:G71.1", "MEDGEN:1842603", "Orphanet:589833", "UMLS:C5680308"]}
{"category": ["biolink:Disease"], "description": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.", "id": "MONDO:0035651", "name": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["BCAHH", "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome"], "xref": ["GARD:0022366", "MEDGEN:1830104", "OMIM:620186", "Orphanet:589856", "UMLS:C5680310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035663", "name": "Neuromyelitis optica spectrum disorder with anti-aqp4 antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NMOSD with anti-AQP4 antibodies", "Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies"], "xref": ["GARD:0022372", "MEDGEN:1842475", "Orphanet:592850", "UMLS:C5680295", "icd11.foundation:73324466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035664", "name": "Neuromyelitis optica spectrum disorder with anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NMOSD with anti-MOG antibodies", "Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022373", "MEDGEN:1843203", "Orphanet:592856", "UMLS:C5680296", "icd11.foundation:605048789"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035665", "name": "Neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies", "Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies"], "xref": ["GARD:0022374", "MEDGEN:1842615", "Orphanet:592869", "UMLS:C5680297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035666", "name": "Acute transverse myelitis with anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022375", "ICD10CM:G37.3", "MEDGEN:1842662", "Orphanet:592873", "UMLS:C5680298"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035667", "name": "Isolated optic neuritis without anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022376", "Orphanet:592885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035668", "name": "Isolated optic neuritis with anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022377", "Orphanet:592888"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035669", "name": "Acute disseminated encephalomyelitis with anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ADEM with anti-MOG antibodies", "Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022378", "ICD10CM:G04.0", "MEDGEN:1842363", "Orphanet:592894", "UMLS:C5680301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035670", "name": "Acute disseminated encephalomyelitis without anti-mog antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies"], "xref": ["GARD:0022379", "ICD10CM:G04.0", "MEDGEN:1843027", "Orphanet:592900", "UMLS:C5680302"]}
{"category": ["biolink:Disease"], "description": "Classical Timothy syndrome with cutaneous syndactyly.", "id": "MONDO:0035678", "name": "Timothy syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LQT8 type 1", "TS1"], "xref": ["GARD:0022380", "ICD10CM:I49.8", "MEDGEN:1802409", "Orphanet:595098", "UMLS:C5574939"]}
{"category": ["biolink:Disease"], "description": "Classical Timothy syndrome without cutaneous syndactyly.", "id": "MONDO:0035679", "name": "Timothy syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["LQT8 type 2", "TS2"], "xref": ["GARD:0022381", "ICD10CM:I49.8", "MEDGEN:930016", "Orphanet:595105", "UMLS:C4304347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035694", "name": "Combined immunodeficiency due to rela haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CID due to RELA haploinsufficiency"], "xref": ["GARD:0022392", "MEDGEN:1843216", "Orphanet:596759", "UMLS:C5680288"]}
{"category": ["biolink:Disease"], "description": "A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.", "id": "MONDO:0035696", "name": "Incomplete septal cirrhosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Incomplete septal fibrosis"], "xref": ["GARD:0022394", "ICD10CM:K74.6", "MEDGEN:1387804", "Orphanet:596941", "UMLS:C0544815"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035706", "name": "Setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022397", "MEDGEN:1843293", "Orphanet:597743", "UMLS:C5681587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035707", "name": "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022398", "MEDGEN:1842711", "Orphanet:597746", "UMLS:C5681588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035734", "name": "Hereditary angioedema with normal c1inh not related to f12 or plg variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022406", "MEDGEN:1843147", "Orphanet:599418", "UMLS:C5681601"]}
{"category": ["biolink:Disease"], "description": "An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.", "id": "MONDO:0035735", "name": "Acquired hemophilia a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AHA"], "xref": ["GARD:0006405", "MEDGEN:124426", "MESH:C536392", "NCIT:C35345", "Orphanet:599480", "UMLS:C0272325"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035736", "name": "Acquired hemophilia b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AHB"], "xref": ["GARD:0022407", "MEDGEN:98305", "Orphanet:599485", "UMLS:C0398609"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035737", "name": "Acquired factor v deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022408", "MEDGEN:1380582", "NCIT:C131624", "Orphanet:599490", "UMLS:C4329256", "icd11.foundation:99894028"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035738", "name": "Acquired factor vii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022409", "MEDGEN:1388639", "NCIT:C131625", "Orphanet:599495", "UMLS:C4331989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035740", "name": "Acquired factor xi deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aFXI"], "xref": ["GARD:0022411", "MEDGEN:1376431", "NCIT:C131627", "Orphanet:599507", "UMLS:C4329257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035742", "name": "Factor v short isoforms-related bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FV short isoforms-related bleeding disorder"], "xref": ["GARD:0022413", "MEDGEN:1843125", "Orphanet:599519", "UMLS:C5680279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035743", "name": "Factor v amsterdam bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022414", "MEDGEN:1842961", "Orphanet:599579", "UMLS:C5681605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035759", "name": "Factor v atlanta bleeding disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022415", "MEDGEN:1842929", "Orphanet:600194", "UMLS:C5681543"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035763", "name": "Idiopathic non-lupus full-house nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Idiopathic non-lupus FHN"], "xref": ["GARD:0022285", "MEDGEN:1830099", "Orphanet:567544", "UMLS:C5680132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035764", "name": "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Idiopathic SSNS with secondary steroid resistance", "Secondary SRNS", "Secondary steroid-resistant nephrotic syndrome"], "xref": ["GARD:0022286", "MEDGEN:1830098", "Orphanet:567546", "UMLS:C5680131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035775", "name": "Ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022417", "MEDGEN:1842919", "Orphanet:600668", "UMLS:C5681527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035776", "name": "Combined deficiency of factor vii and factor x", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022418", "MEDGEN:1843297", "Orphanet:600691", "UMLS:C5681529"]}
{"category": ["biolink:Disease"], "description": "A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.", "id": "MONDO:0035777", "name": "Parenteral nutrition-associated cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PNAC"], "xref": ["GARD:0022295", "MEDGEN:475934", "Orphanet:567983", "UMLS:C3274301", "icd11.foundation:1572634308"]}
{"category": ["biolink:Disease"], "description": "A congenital anorectal disorder characterized by an abnormal fistulous connection between the rectum and the bulbar urethra in males, occurring in isolation without associated syndromic anomalies.", "id": "MONDO:0035782", "name": "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Non-syndromic ARM with rectobulbar fistula", "Non-syndromic ARM with rectourethral fistula, bulbar type", "Non-syndromic anorectal malformation with rectobulbar fistula"], "xref": ["GARD:0022422", "MEDGEN:1843309", "Orphanet:600966", "UMLS:C5680243"]}
{"category": ["biolink:Disease"], "description": "A congenital anorectal disorder characterized by the presence of a fistulous connection between the rectum and the prostatic urethra in the males, occuring in isolation without associated syndromic anomalies.", "id": "MONDO:0035783", "name": "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Non-syndromic ARM with rectoprostatic fistula", "Non-syndromic ARM with rectourethral fistula, prostatic type", "Non-syndromic anorectal malformation with rectoprostatic fistula"], "xref": ["GARD:0022423", "MEDGEN:1842166", "Orphanet:600975", "UMLS:C5680242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035819", "name": "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CIMDAG syndrome"], "xref": ["GARD:0018020", "MEDGEN:1780242", "OMIM:619273", "Orphanet:603448", "UMLS:C5543287"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035821", "name": "Isolated female hypospadias", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022434", "MEDGEN:1842898", "Orphanet:603515", "UMLS:C5681495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035823", "name": "Klhl7-related bohring-opitz-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["KLHL7-related BOS-like syndrome"], "xref": ["GARD:0022436", "MEDGEN:1842955", "Orphanet:603689", "UMLS:C5680210"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035824", "name": "Klhl7-related cold-induced sweating-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["KLHL7-related Crisponi-like syndrome"], "xref": ["GARD:0022437", "MEDGEN:1842368", "Orphanet:603694", "UMLS:C5680211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035826", "name": "Symptomatic form of x-linked centronuclear myopathy in female carriers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Symptomatic form of X-linked myotubular myopathy in female carriers", "Symptomatic form of XLCNM in female carriers", "Symptomatic form of XLMTM in female carriers"], "xref": ["GARD:0022439", "MEDGEN:1842761", "Orphanet:604680", "UMLS:C5680221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035838", "name": "Idiopathic multicentric castleman disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HHV-8-negative multicentric Castleman disease", "Human herpesvirus-8-negative multicentric Castleman disease"], "xref": ["GARD:0022309", "MEDGEN:1680858", "Orphanet:570431", "UMLS:C5197665"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035875", "name": "Ivermectin toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:574637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035876", "name": "Belinostat toxicity or dose selection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:574671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035879", "name": "Granuloma faciale", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Facial granuloma of Lever", "Granuloma of Lever"], "xref": ["GARD:0022442", "ICD10CM:L92.2", "MEDGEN:536904", "Orphanet:615943", "UMLS:C0239495", "icd11.foundation:1663072571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035882", "name": "Chronic intervillositis of unknown etiology", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CIUE"], "xref": ["GARD:0022443", "MEDGEN:1842235", "Orphanet:615970", "UMLS:C5680386"]}
{"category": ["biolink:Disease"], "description": "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.", "id": "MONDO:0035892", "name": "Mills syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019250", "MEDGEN:1682801", "Orphanet:94091", "UMLS:C5191669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035930", "name": "Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["3-phosphoserine phosphatase deficiency, prenatal form"], "xref": ["GARD:0022337", "MEDGEN:1843313", "Orphanet:583612", "UMLS:C5680338"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035940", "name": "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["22)(q34.1", "B-ALL with t(9", "BCR-ABL1-like B-ALL", "Philadelphia chromosome-like B-ALL", "q11.2)"], "xref": ["DOID:0080643", "GARD:0022342", "MEDGEN:1842992", "NCIT:C80331", "Orphanet:585909", "UMLS:C5680319", "icd11.foundation:381281608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035941", "name": "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["11q23)", "11q23.3)", "B Lymphoblastic Leukemia/Lymphoma with t(v", "B lymphoblastic leukaemia lymphoma with t(v", "B lymphoblastic leukemia lymphoma with t(v", "KMT2A Rearranged", "MLL rearranged"], "xref": ["GARD:0022343", "NCIT:C80332", "Orphanet:585918"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035942", "name": "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["21)(p13", "21)(p13.2", "B lymphoblastic leukaemia lymphoma with t(12", "B lymphoblastic leukemia lymphoma with t(12", "B-lymphoblastic leukemia/lymphoma with t(12", "ETV6-RUNX1", "TEL-AML1", "q22)", "q22.1)"], "xref": ["GARD:0022344", "NCIT:C80334", "Orphanet:585929"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035943", "name": "B-lymphoblastic leukemia/lymphoma with hyperdiploidy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["DOID:0080646", "GARD:0022345", "MEDGEN:397154", "NCIT:C80335", "Orphanet:585936", "UMLS:C2698311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035944", "name": "B-lymphoblastic leukemia/lymphoma with hypodiploidy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Hypodiploid ALL"], "xref": ["DOID:0080647", "GARD:0022346", "MEDGEN:437498", "NCIT:C80338", "Orphanet:585942", "UMLS:C2698312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0035945", "name": "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["14)(q31", "B lymphoblastic leukaemia lymphoma with t(5", "B lymphoblastic leukemia lymphoma with t(5", "IL3-IGH", "q32)"], "xref": ["GARD:0022347", "MEDGEN:396325", "NCIT:C80340", "Orphanet:585948", "UMLS:C2698316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036025", "name": "Toxicity to dolutegravir", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:596744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036042", "name": "Kat6b-related multiple congenital anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["KAT6B-related disorder"], "xref": ["GARD:0022399", "MEDGEN:1843234", "Orphanet:597749", "UMLS:C5680266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036045", "name": "Euthyroid dysprealbuminemic hyperthyroxinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Euthyroid dystransthyretinemic hyperthyroxinemia"], "xref": ["GARD:0022401", "MEDGEN:1842463", "Orphanet:597939", "UMLS:C5680265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036189", "name": "Oculogastrointestinal-neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OGIN Syndrome"], "xref": ["GARD:0018024", "MEDGEN:1779113", "OMIM:619318", "Orphanet:611201", "UMLS:C5543355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036193", "name": "Parkinsonism with polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0018028", "MEDGEN:1783451", "OMIM:619279", "Orphanet:611237", "UMLS:C5543299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036212", "name": "Spastic paraparesis-cataracts-speech delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Fatty acyl-CoA reductase 1 superactivity"], "xref": ["GARD:0018033", "OMIM:619338", "Orphanet:615938"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036217", "name": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0018036", "MEDGEN:1842868", "Orphanet:615983", "UMLS:C5681819"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036218", "name": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Lethal 1p36.33 deletion syndrome"], "xref": ["GARD:0018037", "MEDGEN:1843311", "Orphanet:615986", "UMLS:C5680385"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036482", "name": "Retinitis pigmentosa 81", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinitis pigmentosa 81"], "xref": ["DOID:0080292", "GARD:0025817", "MEDGEN:1637738", "OMIM:617871", "UMLS:C4693443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036483", "name": "Short-rib thoracic dysplasia 18 with polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["short-rib thoracic dysplasia 18 with polydactyly"], "xref": ["DOID:0080293", "GARD:0025818", "MEDGEN:1632904", "OMIM:617866", "UMLS:C4693420"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036484", "name": "Charcot-marie-tooth disease, dominant intermediate g", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Charcot-Marie-Tooth disease, dominant intermediate G"], "xref": ["DOID:0080294", "GARD:0025819", "MEDGEN:1642893", "OMIM:617882", "UMLS:C4693509"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that does not respond to treatment.", "id": "MONDO:0036501", "name": "Refractory malignant neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["refractory cancer", "refractory malignant neoplasm", "resistant cancer"], "xref": ["MEDGEN:146772", "NCIT:C120186", "UMLS:C0677936"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that affects the kidney and occurs in childhood.", "id": "MONDO:0036511", "name": "Childhood malignant kidney neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["childhood kidney cancer", "childhood malignant kidney neoplasm", "childhood malignant kidney tumor", "childhood malignant kidney tumour", "childhood malignant renal neoplasm", "childhood malignant renal tumor", "childhood malignant renal tumour", "kidney cancer of childhood", "paediatric kidney cancer", "pediatric kidney cancer"], "xref": ["MEDGEN:904186", "NCIT:C123907", "UMLS:C4086162"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)", "id": "MONDO:0036591", "name": "Adrenal cortex neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adrenal cortex neoplasm", "adrenal cortex tumor", "adrenal cortex tumour", "adrenocortical neoplasm", "adrenocortical tumor", "adrenocortical tumour", "neoplasm of adrenal cortex", "tumor of adrenal cortex", "tumour of adrenal cortex"], "xref": ["GARD:0025820", "MEDGEN:1350", "MESH:D000306", "NCIT:C2858", "UMLS:C0001618"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.", "id": "MONDO:0036595", "name": "Ovarian sertoli-leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Sertoli-Leydig cell tumor of ovary", "Sertoli-Leydig cell tumor of the ovary", "Sertoli-Leydig cell tumour of ovary", "Sertoli-Leydig cell tumour of the ovary", "Sertoli-Leydig neoplasm of ovary", "Sertoli-Leydig neoplasm of the ovary", "androblastoma", "arrhenoblastoma", "ovarian Sertoli-Leydig cell neoplasm", "ovarian Sertoli-Leydig cell tumor"], "xref": ["GARD:0027954", "MEDGEN:2038", "NCIT:C2880", "SCTID:254866007", "UMLS:C0003810"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal tumor arising from skeletal or cardiac muscle.", "id": "MONDO:0036688", "name": "Rhabdomyoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Rhabdomyomatous neoplasm", "rhabdomyoma", "rhabdomyoma, benign"], "xref": ["ICDO:8900/0", "MEDGEN:48445", "MESH:D012207", "NCIT:C3358", "SCTID:402877008", "UMLS:C0035411", "icd11.foundation:1253205675"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.", "id": "MONDO:0036696", "name": "Spleen neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neoplasm of spleen", "spleen tumor", "spleen tumour", "splenic neoplasm", "tumor of spleen", "tumour of spleen"], "xref": ["GARD:0007683", "MEDGEN:21292", "NCIT:C3383", "UMLS:C0037999"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.", "id": "MONDO:0036779", "name": "Axillary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["axilla neoplasm", "axilla tumor", "axilla tumour", "axillary neoplasm", "neoplasm of axilla", "tumor of axilla", "tumour of axilla"], "xref": ["MEDGEN:266214", "NCIT:C35749", "SCTID:126639006", "UMLS:C1290308"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the structures of the axilla.", "id": "MONDO:0036781", "name": "Benign axillary neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["axillary neoplasm, benign", "benign axillary neoplasm"], "xref": ["MEDGEN:146338", "NCIT:C35750", "UMLS:C0684828"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm arising from the lymphatic vessels.", "id": "MONDO:0036870", "name": "Lymphatic vessel neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["lymph vessel neoplasm", "lymph vessel tumor", "lymph vessel tumour", "lymphatic vessel neoplasm", "lymphatic vessel tumor", "lymphatic vessel tumour", "neoplasm of lymph vessel", "neoplasm of lymphatic vessel", "neoplasm of the lymph vessel", "neoplasm of the lymphatic vessel", "tumor of lymph vessel", "tumor of lymphatic vessel", "tumor of the lymph vessel", "tumor of the lymphatic vessel", "tumour of lymph vessel", "tumour of lymphatic vessel", "tumour of the lymph vessel", "tumour of the lymphatic vessel"], "xref": ["MEDGEN:1857625", "NCIT:C3723", "UMLS:C2103272"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.", "id": "MONDO:0036915", "name": "Benign ovarian mucinous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign ovarian mucinous neoplasm", "benign ovarian mucinous tumor", "ovarian mucinous neoplasm, benign"], "xref": ["MEDGEN:267038", "NCIT:C40039", "UMLS:C1511100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0036918", "name": "Punctate acrokeratoderma freckle-like pigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004603", "MEDGEN:1814481", "Orphanet:99710", "UMLS:C5681635"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.", "id": "MONDO:0036976", "name": "Benign epithelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign epithelial neoplasm", "benign epithelial tumor", "benign epithelial tumour", "benign epithelioma", "benign neoplasm of epithelium", "benign neoplasm of the epithelium", "benign tumor of epithelium", "benign tumor of the epithelium", "benign tumour of epithelium", "benign tumour of the epithelium", "epithelial neoplasm, benign", "epithelioma, benign"], "xref": ["ICDO:8010/0", "ICDO:8011/0", "MEDGEN:90747", "NCIT:C4092", "UMLS:C0334232"]}
{"category": ["biolink:Disease"], "description": "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.", "id": "MONDO:0036990", "name": "Benign leydig cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Leydig cell tumor, benign", "adenoma, interstitial", "benign Leydig cell neoplasm", "benign Leydig cell tumor", "benign interstitial cell neoplasm", "benign interstitial cell tumor", "benign interstitial cell tumour"], "xref": ["ICDO:8650/0", "MEDGEN:83142", "NCIT:C4212", "UMLS:C0334409"]}
{"category": ["biolink:Disease"], "description": "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.", "id": "MONDO:0037002", "name": "Benign phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign cystosarcoma phyllodes", "benign phyllodes neoplasm", "benign phyllodes tumor", "phyllodes tumor, benign"], "xref": ["ICDO:9020/0", "MEDGEN:87254", "NCIT:C4274", "UMLS:C0334501"]}
{"category": ["biolink:Disease"], "description": "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.", "id": "MONDO:0037003", "name": "Malignant phyllodes tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["malignant cystosarcoma phyllodes", "malignant phyllodes neoplasm", "malignant phyllodes tumor", "phyllodes tumor, malignant"], "xref": ["ICDO:9020/3", "MEDGEN:109372", "NCIT:C4275", "UMLS:C0600066"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that arises from the lung.", "id": "MONDO:0037105", "name": "Lung germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["lung germ cell neoplasm", "lung germ cell tumor"], "xref": ["GARD:0025821", "MEDGEN:310947", "NCIT:C45636", "UMLS:C1708771"]}
{"category": ["biolink:Disease"], "id": "MONDO:0037149", "name": "Hsd10 disease, atypical type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HSD10 deficiency, atypical type", "Syndromic X-linked intellectual disability type 10"], "xref": ["GARD:0016749", "MEDGEN:1843277", "Orphanet:85295", "UMLS:C5680206"]}
{"category": ["biolink:Disease"], "description": "A neoplasm that arises from the testis during childhood.", "id": "MONDO:0037250", "name": "Childhood testicular neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood neoplasm of testis", "childhood neoplasm of the testis", "childhood testicular neoplasm", "neoplasm of testis of childhood", "paediatric neoplasm of testis", "paediatric neoplasm of the testis", "paediatric testicular neoplasm", "pediatric neoplasm of testis", "pediatric neoplasm of the testis", "pediatric testicular neoplasm", "testicular tumor, childhood"], "xref": ["MEDGEN:272472", "NCIT:C5053", "UMLS:C1333010"]}
{"category": ["biolink:Disease"], "description": "A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.", "id": "MONDO:0037251", "name": "Congestive splenomegaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Banti syndrome", "Banti's disease", "Banti's spleen", "Banti's syndrome"], "xref": ["GARD:0005888", "MEDGEN:56339", "MESH:C537903", "SCTID:19058002", "UMLS:C0154307"]}
{"category": ["biolink:Disease"], "description": "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.", "id": "MONDO:0037252", "name": "Thecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thecoma"], "xref": ["ICDO:8600/0", "MEDGEN:21505", "MESH:D013798", "NCIT:C3405", "UMLS:C0039747"]}
{"category": ["biolink:Disease"], "description": "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.", "id": "MONDO:0037253", "name": "Ovarian thecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ovarian theca cell neoplasm", "ovarian theca cell tumor", "ovarian theca cell tumour", "ovarian thecoma", "ovary thecoma", "theca cell neoplasm of ovary", "theca cell neoplasm of the ovary", "theca cell tumor of ovary", "theca cell tumor of the ovary", "theca cell tumour of ovary", "theca cell tumour of the ovary", "thecoma of ovary", "thecoma of the ovary"], "xref": ["GARD:0027955", "MEDGEN:364155", "NCIT:C66989", "SCTID:254864005", "UMLS:C1882229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0037254", "name": "Transitional cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["transitional cell neoplasm", "transitional cell tumor", "transitional cell tumour"], "xref": ["MEDGEN:90754", "NCIT:C6783", "UMLS:C0334265"]}
{"category": ["biolink:Disease"], "description": "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.", "id": "MONDO:0037255", "name": "Ovarian serous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ovarian serous neoplasm", "ovarian serous tumor", "serous neoplasm of ovary", "serous neoplasm of the ovary", "serous tumor of ovary", "serous tumor of the ovary", "serous tumour of ovary", "serous tumour of the ovary"], "xref": ["MEDGEN:141653", "NCIT:C8431", "UMLS:C0476122"]}
{"category": ["biolink:Disease"], "id": "MONDO:0037256", "name": "Serous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["serous neoplasm"], "xref": ["MEDGEN:233442", "NCIT:C7074", "UMLS:C1335951"]}
{"category": ["biolink:Disease"], "description": "A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.", "id": "MONDO:0037398", "name": "Pneumonia caused by pseudomonas aeruginosa infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0013613", "MEDGEN:852026", "Orphanet:90066", "UMLS:C0920182", "icd11.foundation:801706385"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the sebaceous gland.", "id": "MONDO:0037735", "name": "Sebaceous gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of sebaceous gland", "malignant neoplasm of sebaceous gland", "malignant neoplasm of the sebaceous gland", "malignant sebaceous gland neoplasm", "malignant sebaceous gland tumor", "malignant sebaceous gland tumour", "malignant sebaceous neoplasm", "malignant sebaceous tumor", "malignant sebaceous tumour", "malignant tumor of sebaceous gland", "malignant tumor of the sebaceous gland", "malignant tumour of sebaceous gland", "malignant tumour of the sebaceous gland"], "xref": ["MEDGEN:235134", "NCIT:C8409", "UMLS:C1382026"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.", "id": "MONDO:0037736", "name": "Infratentorial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain neoplasms, infratentorial", "infratentorial neoplasm", "infratentorial neoplasms", "infratentorial tumor", "infratentorial tumors", "infratentorial tumour", "infratentorial tumours", "neoplasms, infratentorial"], "xref": ["MEDGEN:5803", "NCIT:C3139", "UMLS:C0021432"]}
{"category": ["biolink:Disease"], "description": "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.", "id": "MONDO:0037737", "name": "Peritoneal solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["peritoneal solitary fibrous tumor"], "xref": ["GARD:0025822", "MEDGEN:925935", "NCIT:C126357", "UMLS:C4288403"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the cauda equina.", "id": "MONDO:0037738", "name": "Cauda equina cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of cauda equina", "malignant cauda equina neoplasm", "malignant neoplasm of cauda equina"], "xref": ["ICD10CM:C72.1", "MEDGEN:578608", "SCTID:363477002", "UMLS:C0349017", "icd11.foundation:2014841089"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that involves the cauda equina.", "id": "MONDO:0037739", "name": "Benign neoplasm of cauda equina", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign neoplasm of cauda equina"], "xref": ["MEDGEN:673271", "SCTID:92047003", "UMLS:C0686404", "icd11.foundation:214796583"]}
{"category": ["biolink:Disease"], "description": "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.", "id": "MONDO:0037740", "name": "Malignant central nervous system mesenchymal, non-meningothelial neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central nervous system mesenchymal non-meningothelial tumor, malignant", "malignant CNS soft tissue neoplasm", "malignant CNS soft tissue tumor", "malignant CNS soft tissue tumour", "malignant central nervous system mesenchymal non-meningothelial tumor", "malignant central nervous system mesenchymal non-meningothelial tumour", "malignant central nervous system mesenchymal, non-meningothelial neoplasm", "malignant central nervous system mesenchymal, non-meningothelial tumor", "malignant central nervous system mesenchymal, non-meningothelial tumour", "malignant central nervous system soft tissue neoplasm", "malignant central nervous system soft tissue tumor", "malignant central nervous system soft tissue tumour", "malignant soft tissue neoplasm of CNS", "malignant soft tissue neoplasm of central nervous system", "malignant soft tissue neoplasm of the CNS", "malignant soft tissue neoplasm of the central nervous system", "malignant soft tissue tumor of CNS", "malignant soft tissue tumor of central nervous system", "malignant soft tissue tumor of the CNS", "malignant soft tissue tumor of the central nervous system", "malignant soft tissue tumour of CNS", "malignant soft tissue tumour of central nervous system", "malignant soft tissue tumour of the CNS", "malignant soft tissue tumour of the central nervous system", "soft tissue cancer of central nervous system", "soft tissue cancer of the central nervous system"], "xref": ["GARD:0027956", "MEDGEN:233147", "NCIT:C6758", "UMLS:C1334571"]}
{"category": ["biolink:Disease"], "description": "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.", "id": "MONDO:0037742", "name": "Endometrioid stromal and related neoplasms", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endometrioid stromal and related neoplasms", "endometrioid stromal and related tumors", "endometrioid stromal and related tumours"], "xref": ["MEDGEN:925400", "NCIT:C8384", "UMLS:C4287868"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from the soft tissues of the mediastinum.", "id": "MONDO:0037743", "name": "Mediastinal soft tissue cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant mediastinal mesenchymal tumor", "malignant mediastinal mesenchymal tumour", "malignant mediastinal soft tissue neoplasm", "malignant mediastinal soft tissue tumor", "malignant mediastinal soft tissue tumour", "malignant soft tissue neoplasm of mediastinum", "malignant soft tissue neoplasm of the mediastinum", "malignant soft tissue tumor of mediastinum", "malignant soft tissue tumor of the mediastinum", "malignant soft tissue tumour of mediastinum", "malignant soft tissue tumour of the mediastinum", "mediastinal mesenchymal tumor, malignant"], "xref": ["GARD:0027957", "MEDGEN:277335", "NCIT:C6642", "UMLS:C1334599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0037744", "name": "Neoplasm of retromolar area", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neoplasm of retromolar area"], "xref": ["GARD:0025823", "MEDGEN:577022", "SCTID:126804008", "UMLS:C0345590"]}
{"category": ["biolink:Disease"], "description": "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.", "id": "MONDO:0037745", "name": "Fibromyxoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibromyxoid neoplasm", "fibromyxoid tumor", "fibromyxoma", "fibromyxoma, benign"], "xref": ["ICDO:8811/0", "MEDGEN:60023", "NCIT:C66760", "UMLS:C0205766"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.", "id": "MONDO:0037746", "name": "Malignant vaginal mixed epithelial and mesenchymal neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["malignant vaginal mixed epithelial and mesenchymal neoplasm", "malignant vaginal mixed epithelial and mesenchymal tumor", "malignant vaginal mixed epithelial and mesenchymal tumour"], "xref": ["MEDGEN:307683", "NCIT:C40276", "UMLS:C1512974"]}
{"category": ["biolink:Disease"], "description": "An elevated concentration of lipoproteins.", "id": "MONDO:0037748", "name": "Hyperlipoproteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hyperlipoproteinemia"], "xref": ["HP:0010980", "MEDGEN:9363", "MESH:D006951", "NCIT:C34709", "UMLS:C0020476"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of carbohydrate metabolic process.", "id": "MONDO:0037792", "name": "Carbohydrate metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carbohydrate metabolic process disease", "disorder of carbohydrate metabolic process", "disorder of carbohydrate metabolism"], "xref": ["MEDGEN:472889", "NANDO:2100164", "SCTID:20957000", "UMLS:C0149670"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of glycerol metabolic process.", "id": "MONDO:0037807", "name": "Glycerol metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of glycerol metabolic process", "disorder of glycerol metabolism", "glycerol metabolic process disease"], "xref": ["MEDGEN:575210", "SCTID:237977000", "UMLS:C0342762"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.", "id": "MONDO:0037821", "name": "Porphyrin metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of porphyrin metabolism", "disorder of porphyrin-containing compound metabolic process", "porphyrin-containing compound metabolic process disease"], "xref": ["ICD9:277.1", "MEDGEN:10865", "SCTID:29094004", "UMLS:C0032708"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of purine nucleobase metabolic process.", "id": "MONDO:0037829", "name": "Purine metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of purine metabolism", "disorder of purine nucleobase metabolic process", "purine nucleobase metabolic process disease"], "xref": ["MEDGEN:541199", "SCTID:32612005", "UMLS:C0268104"]}
{"category": ["biolink:Disease"], "description": "A disease that involves the intervertebral joint.", "id": "MONDO:0037847", "name": "Vertebral joint disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of intervertebral joint", "disease or disorder of intervertebral joint", "disorder of intervertebral joint", "disorder of joint of spine", "intervertebral joint disease", "intervertebral joint disease or disorder"], "xref": ["EFO:0009477", "MEDGEN:1853166", "SCTID:372109003", "UMLS:C0541407"]}
{"category": ["biolink:Disease"], "description": "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.", "id": "MONDO:0037858", "name": "Inherited fatty acid metabolism disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder of fatty acid metabolism", "fatty acid metabolism disorder", "inherited fatty acid metabolism disorder"], "xref": ["GARD:0025824", "MEDGEN:468968", "NANDO:2100162", "NCIT:C117115", "SCTID:39929009", "UMLS:C0268634"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of valine metabolic process.", "id": "MONDO:0037870", "name": "Valine metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of valine metabolic process", "disorder of valine metabolism", "valine metabolic process disease"], "xref": ["MEDGEN:753614", "SCTID:444756000", "UMLS:C2919304"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cellular amino acid metabolic process.", "id": "MONDO:0037871", "name": "Amino acid metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["amino acid disorder", "amino acid metabolism disorder", "amino acidopathy", "cellular amino acid metabolic process disease", "disorder of amino acid metabolism", "disorder of cellular amino acid metabolic process"], "xref": ["NANDO:2100160", "SCTID:44779003"]}
{"category": ["biolink:Disease"], "description": "Any disease caused by infection with organisms of the genus Bordetella.", "id": "MONDO:0037872", "name": "Bordetellosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Bordetella caused disease or disorder", "Bordetella disease or disorder", "Bordetella infectious disease", "bordetellosis"], "xref": ["ICD9:041.85", "MEDGEN:637", "MESH:D001885", "SCTID:26484003", "UMLS:C0006015"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.", "id": "MONDO:0037937", "name": "Pyrimidine metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of pyrimidine metabolism", "disorder of pyrimidine nucleobase metabolic process", "pyrimidine nucleobase metabolic process disease"], "xref": ["SCTID:85444005"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.", "id": "MONDO:0037938", "name": "Inborn disorder of aspartate family metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["inborn aspartate family amino acid metabolic process disorder", "inborn error of aspartate family amino acid metabolic process", "rare inborn error of aspartate family amino acid metabolic process"]}
{"category": ["biolink:Disease"], "description": "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.", "id": "MONDO:0037939", "name": "Porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["porphyria"], "xref": ["MEDGEN:1844832", "MESH:D011164", "NANDO:1200811", "NCIT:C97096", "SCTID:418470004", "UMLS:C5848305"]}
{"category": ["biolink:Disease"], "description": "An instance of auditory system disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0037940", "name": "Inherited auditory system disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["auditory system hereditary disorder", "hereditary auditory system disease", "inherited auditory system disease"], "xref": ["MEDGEN:707712", "SCTID:362991006", "UMLS:C1285174"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040500", "name": "Glycosylphosphatidylinositol biosynthesis defect 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["glycosylphosphatidylinositol biosynthesis defect 16"], "xref": ["DOID:0081223", "GARD:0022577", "MEDGEN:1628197", "OMIM:617816", "UMLS:C4540521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040501", "name": "Ehlers-danlos syndrome, arthrochalasia type, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_etiological_subtype", "mondo:rare"], "synonym": ["EDS 7B", "EDS VIIB", "EDSARTH2", "Ehlers-Danlos syndrome type 7B", "Ehlers-Danlos syndrome, arthrochalasia type, 2", "Ehlers-Danlos syndrome, type VIIb, autosomal dominant"], "xref": ["DOID:0080728", "GARD:0016256", "GTR:AN1112503", "GTR:AN1112965", "GTR:AN1112966", "GTR:AN1112967", "MESH:C565061", "OMIM:617821", "Orphanet:99876", "icd11.foundation:380846833"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040502", "name": "Glucocorticoid deficiency 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["glucocorticoid deficiency 5"], "xref": ["DOID:0061244", "GARD:0016257", "MEDGEN:1614419", "OMIM:617825", "UMLS:C4540522"]}
{"category": ["biolink:Disease"], "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.", "id": "MONDO:0040503", "name": "Blepharocheilodontic syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CTNND1 blepharo-cheilo-odontic syndrome", "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1"], "xref": ["DOID:0080346", "GARD:0016244", "MEDGEN:1623594", "OMIM:617681", "UMLS:C4540127"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.", "id": "MONDO:0040566", "name": "Inherited glutathione metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder of glutathione metabolism", "glutathione metabolism disorder, inherited", "inborn error of glutathione metabolic process", "inborn error of glutathione metabolism", "inborn glutathione metabolic process disorder", "rare inborn error of glutathione metabolic process"], "xref": ["GARD:0025825", "MEDGEN:541346", "SCTID:72262000", "UMLS:C0268518"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of ocular albinism (disease).", "id": "MONDO:0040653", "name": "Autosomal recessive ocular albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["autosomal recessive ocular albinism", "autosomal recessive ocular albinism (disease)", "ocular albinism (disease), autosomal recessive"], "xref": ["GARD:0025826", "ICD10CM:E70.311", "MEDGEN:541337", "SCTID:78921008", "UMLS:C0268503"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of oculocutaneous albinism.", "id": "MONDO:0040654", "name": "Autosomal dominant oculocutaneous albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autosomal dominant oculocutaneous albinism", "oculocutaneous albinism, autosomal dominant"], "xref": ["GARD:0025827", "MEDGEN:541335", "SCTID:79417003", "UMLS:C0268499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040671", "name": "Class v glucose-6-phosphate dehydrogenase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["G6PD class V variant anaemia", "G6PD class V variant anemia", "glucose-6-phosphate dehydrogenase deficiency class V variant anaemia", "glucose-6-phosphate dehydrogenase deficiency class V variant anemia"], "xref": ["GARD:0027958", "MEDGEN:543772", "Orphanet:362", "SCTID:80963002", "UMLS:C0272060"]}
{"category": ["biolink:Disease"], "description": "A malignant germ cell tumor that affects the peritoneum.", "id": "MONDO:0040673", "name": "Malignant peritoneal germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["malignant peritoneal germ cell tumor"], "xref": ["GARD:0025828", "MEDGEN:1612836", "NCIT:C136410", "UMLS:C4526657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040674", "name": "Orgasm disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["orgasm disorder"], "xref": ["ICD10CM:F52.3", "MEDGEN:10472", "SCTID:82636008", "UMLS:C0029261"]}
{"category": ["biolink:Disease"], "description": "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.", "id": "MONDO:0040675", "name": "Myofibroblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myofibroblastoma"], "xref": ["ICDO:8825/0", "MEDGEN:66894", "NCIT:C49012", "UMLS:C0242404"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm arising from the great vessels.", "id": "MONDO:0040676", "name": "Great vessel cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cancer of great vessel of heart", "great vessel cancer", "great vessel of heart cancer", "malignant great vessel neoplasm", "malignant great vessel of heart neoplasm", "malignant great vessel tumor", "malignant great vessel tumour", "malignant neoplasm of great vessel of heart"], "xref": ["MEDGEN:777096", "NCIT:C4575", "UMLS:C3665405"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.", "id": "MONDO:0040677", "name": "Invasive carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["invasive carcinoma"], "xref": ["MEDGEN:233579", "NCIT:C9480", "UMLS:C1334274"]}
{"category": ["biolink:Disease"], "description": "A invasive carcinoma that involves the urothelium.", "id": "MONDO:0040678", "name": "Infiltrating urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infiltrating transitional cell carcinoma of the urinary tract", "infiltrating urothelial carcinoma"], "xref": ["MEDGEN:268274", "NCIT:C39853", "UMLS:C1512751"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.", "id": "MONDO:0040679", "name": "Urothelial carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Uroepithelial carcinoma", "transitional cell car. -uroth.", "transitional cell carcinoma of the urinary tract", "transitional cell carcinoma of the urothelial tract", "urothelial carcinoma"], "xref": ["EFO:0008528", "GARD:0025829", "MEDGEN:760495", "NCIT:C4030", "UMLS:C2145472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040698", "name": "Subacute bursitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["subacute bursitis"], "xref": ["MEDGEN:712544", "SCTID:109298000", "UMLS:C1290159"]}
{"category": ["biolink:Disease"], "description": "A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.", "id": "MONDO:0040699", "name": "Necrotizing scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:379.09", "MEDGEN:6542", "SCTID:95797003", "UMLS:C0027547"]}
{"category": ["biolink:Disease"], "description": "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.", "id": "MONDO:0040700", "name": "Orbital dermoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dermoid cyst of orbit", "dermoid cyst of the orbit", "epidermal dermoid cyst", "orbit dermoid cyst"], "xref": ["GARD:0025830", "MEDGEN:350581", "NCIT:C4548", "SCTID:255002002", "UMLS:C1862060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040728", "name": "Campylobacter fetus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infection by Campylobacter fetus", "infection by Campylobacter foetus"], "xref": ["MEDGEN:547000", "SCTID:111835002", "UMLS:C0275979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040732", "name": "Pseudomonas aeruginosa infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["infection due to Pseudomonas aeruginosa"], "xref": ["MEDGEN:547066", "SCTID:11218009", "UMLS:C0276075"]}
{"category": ["biolink:Disease"], "description": "Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.", "id": "MONDO:0040753", "name": "Latent tuberculosis infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LTBI", "inactive TB", "inactive tuberculosis", "tuberculosis infection latent"], "xref": ["GARD:0025831", "MEDGEN:294255", "MESH:D055985", "SCTID:11999007", "UMLS:C1609538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040797", "medic_stub": true, "name": "obsolete vascular headache", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.", "id": "MONDO:0040870", "name": "Primary polydipsia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.", "id": "MONDO:0040871", "name": "Psychogenic polydipsia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["psychogenic polydipsia"], "xref": ["MEDGEN:452478", "SCTID:15945005", "UMLS:C0395005"]}
{"category": ["biolink:Disease"], "description": "A form of primary polydipsia not caused by underlying psychiatric symptoms.", "id": "MONDO:0040872", "name": "Non-psychogenic polydipsia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040922", "name": "Latent early syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["latent early syphilis"], "xref": ["GARD:0027959", "MEDGEN:546880", "SCTID:186867005", "UMLS:C0275842", "icd11.foundation:1768103550"]}
{"category": ["biolink:Disease"], "description": "Latent syphilis when infection was acquired more than twelve months previously.", "id": "MONDO:0040923", "name": "Late latent syphilis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["late latent syphilis"], "xref": ["GARD:0027960", "MEDGEN:687555", "NCIT:C128371", "SCTID:186903006", "UMLS:C1260915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040925", "name": "Latent yaws", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["latent yaws"], "xref": ["GARD:0025832", "ICD10CM:A66.8", "MEDGEN:509217", "SCTID:186973005", "UMLS:C0153240", "icd11.foundation:247169608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0040998", "name": "Pasteurella multocida infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["infection by Pasteurella multocida"], "xref": ["GARD:0009774", "MEDGEN:226779", "SCTID:197718007", "UMLS:C1260911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041052", "name": "Postherpetic neuralgia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["postherpetic neuralgia"], "xref": ["GARD:0027961", "MEDGEN:18589", "Orphanet:466673", "SCTID:2177002", "UMLS:C0032768", "icd11.foundation:1797210650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041086", "name": "Mixed anxiety and depressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mixed anxiety and depressive disorder"], "xref": ["MEDGEN:572834", "SCTID:231504006", "UMLS:C0338908"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041093", "name": "Central retinal vein occlusion with macular edema", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["central retinal vein occlusion with macular edema"], "xref": ["GARD:0025833", "MEDGEN:573198", "SCTID:232039004", "UMLS:C0339498"]}
{"category": ["biolink:Disease"], "description": "An malignant otitis externa caused by infection with Pseudomonas aeruginosa.", "id": "MONDO:0041095", "name": "Malignant otitis externa caused by pseudomonas aeruginosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pseudomonas aeruginosa caused malignant otitis externa", "Pseudomonas aeruginosa malignant otitis externa", "malignant otitis externa caused by Pseudomonas aeruginosa", "malignant otitis externa due to Pseudomonas aeruginosa"], "xref": ["MEDGEN:583067", "SCTID:232230009", "UMLS:C0395818"]}
{"category": ["biolink:Disease"], "description": "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.", "id": "MONDO:0041114", "name": "Peripheral ischemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peripheral ischemia"], "xref": ["MEDGEN:115991", "SCTID:233958001", "UMLS:C0235490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041154", "name": "Disorder of neck of urinary bladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["functional disorder of bladder neck and sphincter mechanism"], "xref": ["MEDGEN:588557", "SCTID:236644005", "UMLS:C0403653"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041161", "medic_stub": true, "name": "obsolete endometrial hyperplasia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.", "id": "MONDO:0041167", "name": "Carcinoid crisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["carcinoid crisis"], "xref": ["GARD:0025834", "MEDGEN:575107", "SCTID:237833006", "UMLS:C0342569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041182", "name": "Polymorphic light eruption", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["polymorphic light eruption", "polymorphous light eruption"], "xref": ["ICD10CM:L56.4", "MEDGEN:508043", "SCTID:238525001", "UMLS:C0031736", "icd11.foundation:1883086071"]}
{"category": ["biolink:Disease"], "description": "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.", "id": "MONDO:0041186", "name": "Rowell syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["lupus erythematosus and erythema multiforme-like syndrome"], "xref": ["GARD:0025836", "MEDGEN:590567", "Orphanet:658584", "SCTID:238926009", "UMLS:C0406637"]}
{"category": ["biolink:Disease"], "description": "An myocarditis caused by infection with Corynebacterium diphtheriae.", "id": "MONDO:0041259", "name": "Diphtheritic myocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Corynebacterium diphtheriae caused myocarditis", "Corynebacterium diphtheriae myocarditis", "diphtheritic myocarditis"], "xref": ["GARD:0025837", "MEDGEN:509091", "SCTID:26117009", "UMLS:C0152952", "icd11.foundation:1165221541"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041261", "name": "Disorder of acid-base balance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of acid-base balance"], "xref": ["MEDGEN:541141", "SCTID:26436007", "UMLS:C0268029"]}
{"category": ["biolink:Disease"], "description": "A epilepsy that involves the primary motor cortex.", "id": "MONDO:0041284", "name": "Primary motor cortex epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epilepsy of primary motor cortex", "primary motor cortex epilepsy"], "xref": ["MEDGEN:536338", "SCTID:267592003", "UMLS:C0234978"]}
{"category": ["biolink:Disease"], "description": "Acute form of kidney papillary necrosis.", "id": "MONDO:0041295", "name": "Acute papillary necrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute kidney papillary necrosis", "acute papillary necrosis", "kidney papillary necrosis, acute"], "xref": ["MEDGEN:588410", "SCTID:270494003", "UMLS:C0403468"]}
{"category": ["biolink:Disease"], "description": "Acute form of epiglottitis.", "id": "MONDO:0041366", "name": "Acute epiglottitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute epiglottitis", "epiglottitis, acute"], "xref": ["ICD10CM:J05.1", "MEDGEN:510093", "SCTID:29608009", "UMLS:C0155814", "icd11.foundation:1070805666"]}
{"category": ["biolink:Disease"], "description": "A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.", "id": "MONDO:0041403", "name": "Toxic amblyopia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:536749", "SCTID:30483005", "UMLS:C0237979"]}
{"category": ["biolink:Disease"], "description": "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.", "id": "MONDO:0041447", "name": "Metastatic malignant neoplasm in the colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["metastatic malignant neoplasm in the colon", "metastatic malignant neoplasm to the colon", "metastatic neoplasm to the colon", "metastatic tumor to the colon", "metastatic tumour to the colon"], "xref": ["MEDGEN:83432", "NCIT:C8411", "UMLS:C0346974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041448", "name": "Metastasis from malignant tumor of colon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["metastasis from malignant tumor of colon"], "xref": ["MEDGEN:705366", "SCTID:314998002", "UMLS:C1282500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041526", "name": "Pregnancy disorder with abortive outcome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IUFD", "intrauterine fetal death", "intrauterine fetal demise", "stillbirth"], "xref": ["ICD10CM:O00-O08", "MEDGEN:102352", "SCTID:363681007", "UMLS:C0156543"]}
{"category": ["biolink:Disease"], "description": "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.", "id": "MONDO:0041535", "name": "Mesenteric lymphadenitis due to yersinia infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Masshoff's syndrome", "Yersinia pseudotuberculosis caused mesenteric lymphadenitis", "Yersinia pseudotuberculosis mesenteric lymphadenitis", "lymphadenitis mesenterialis Masshoff", "mesenteric lymphadenitis due to Yersinia pseudotuberculosis"], "xref": ["GARD:0027962", "MEDGEN:546804", "SCTID:13272007", "UMLS:C0275758"]}
{"category": ["biolink:Disease"], "description": "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.", "id": "MONDO:0041536", "name": "Far-east scarlet-like fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FESLF", "Izumi fever"], "xref": ["GARD:0027963", "MEDGEN:548219", "SCTID:47277009", "UMLS:C0277513"]}
{"category": ["biolink:Disease"], "description": "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.", "id": "MONDO:0041656", "name": "St-elevation myocardial infarction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ST segment elevation myocardial infarction", "STEMI", "acute-ST segment elevation myocardial infarction"], "xref": ["MESH:D000072657", "SCTID:401303003"]}
{"category": ["biolink:Disease"], "description": "A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.", "id": "MONDO:0041751", "name": "Multibacillary leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["multibacillary leprosy"], "xref": ["GARD:0025838", "MEDGEN:288329", "MESH:D056006", "SCTID:416257001", "UMLS:C1562585", "icd11.foundation:1123804548"]}
{"category": ["biolink:Disease"], "description": "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.", "id": "MONDO:0041752", "name": "Paucibacillary leprosy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paucibacillary leprosy"], "xref": ["GARD:0025839", "MEDGEN:288331", "MESH:D056005", "SCTID:416483009", "UMLS:C1562908", "icd11.foundation:1800264981"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041755", "name": "Twin reversal arterial perfusion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["twin reversal arterial perfusion syndrome"], "xref": ["GARD:0025840", "MEDGEN:736778", "SCTID:417006004", "UMLS:C1562817"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041775", "name": "Intraoperative floppy iris syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["intraoperative floppy iris syndrome"], "xref": ["ICD10CM:H21.81", "MEDGEN:739048", "SCTID:418801006", "UMLS:C1688637"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.", "id": "MONDO:0041806", "name": "Drug-resistant tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["drug resistant tuberculosis"], "xref": ["GARD:0025841", "MEDGEN:61616", "SCTID:423709000", "UMLS:C0206525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041825", "name": "Bacterial meningitis caused by gram-negative bacteria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["bacterial meningitis caused by gram-negative bacteria", "bacterial meningitis due to gram-negative bacteria"], "xref": ["GARD:0025842", "MEDGEN:678524", "SCTID:425887005", "UMLS:C0854215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041850", "name": "Pneumonia caused by gram negative bacteria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pneumonia caused by gram negative bacteria", "pneumonia due to gram negative bacteria", "pneumonia due to gramme negative bacteria"], "xref": ["MEDGEN:678525", "SCTID:430395005", "UMLS:C0854248"]}
{"category": ["biolink:Disease"], "description": "An pneumonia caused by infection with Staphylococcus aureus.", "id": "MONDO:0041879", "name": "Staphylococcus aureus pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Staphylococcus aureus caused pneumonia", "Staphylococcus aureus pneumonia", "pneumonia due to staphylococcus aureus", "staphylococcus aureus pneumonia"], "xref": ["ICD10CM:J15.21", "MEDGEN:167803", "SCTID:441658007", "UMLS:C0857862"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041903", "name": "Gonococcal infection of joint", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["gonococcal infection of joint"], "xref": ["GARD:0027964", "MEDGEN:509210", "SCTID:44743006", "UMLS:C0153216", "icd11.foundation:1787713905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041959", "name": "Fibrosis of bile duct", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibrosis of bile duct"], "xref": ["MEDGEN:636068", "SCTID:48124008", "UMLS:C0520571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0041996", "name": "Thallium poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["thallium poisoning"], "xref": ["SCTID:51040009"]}
{"category": ["biolink:Disease"], "description": "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.", "id": "MONDO:0042233", "name": "Disseminated candidiasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disseminated candidiasis"], "xref": ["GARD:0001076", "ICD10CM:B37.7", "MEDGEN:102260", "NCIT:C116812", "SCTID:70572005", "UMLS:C0153252"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042370", "name": "Yersinia enterocolitica infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["infection by Yersinia enterocolitica"], "xref": ["EFO:0009424", "SCTID:80960004"]}
{"category": ["biolink:Disease"], "description": "An endocarditis (disease) caused by infection with Fungi.", "id": "MONDO:0042433", "name": "Mycotic endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Fungi caused endocarditis (disease)", "Fungi endocarditis (disease)", "mycotic endocarditis"], "xref": ["GARD:0025844", "MEDGEN:547460", "SCTID:86348002", "UMLS:C0276648", "icd11.foundation:1487619220"]}
{"category": ["biolink:Disease"], "description": "An inflammation of the endometrium and the myometrium.", "id": "MONDO:0042451", "name": "Endomyometritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["endomyometritis"], "xref": ["MEDGEN:75710", "SCTID:88027004", "UMLS:C0269050", "icd11.foundation:229826357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042452", "name": "Tertiary lesion of yaws", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tertiary lesion of yaws"], "xref": ["GARD:0025845", "MEDGEN:575866", "SCTID:88037009", "UMLS:C0343833"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Trichinella spiralis.", "id": "MONDO:0042458", "name": "Trichinella spiralis infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Trichinella spiralis caused disease or disorder", "Trichinella spiralis disease or disorder", "infection by larvae of Trichinella spiralis"], "xref": ["GARD:0025846", "MEDGEN:854509", "SCTID:88264003", "UMLS:C3887668"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042484", "name": "Disseminated sporotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["disseminated sporotrichosis"], "xref": ["GARD:0025847", "ICD10CM:B42.7", "MEDGEN:547522", "SCTID:91051003", "UMLS:C0276725", "icd11.foundation:984175752"]}
{"category": ["biolink:Disease"], "description": "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.", "id": "MONDO:0042485", "name": "Infective arthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["infective arthritis"], "xref": ["GARD:0006781", "MEDGEN:13918", "NCIT:C26700", "UMLS:C0003869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042486", "name": "Polyposis syndrome, hereditary mixed, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["polyposis syndrome, hereditary mixed 1", "polyposis syndrome, hereditary mixed, 1"], "xref": ["DOID:0111685", "GARD:0025848", "MEDGEN:331320", "OMIM:601228", "UMLS:C1832587"]}
{"category": ["biolink:Disease"], "description": "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003", "id": "MONDO:0042487", "name": "Uterine cervix carcinoma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CIN 3 aJCC v6", "CIN grade 3 aJCC v6", "FIGO stage 0 carcinoma of cervix", "FIGO stage 0 carcinoma of cervix uteri", "FIGO stage 0 carcinoma of the cervix", "FIGO stage 0 carcinoma of the cervix uteri", "FIGO stage 0 carcinoma of the uterine cervix", "FIGO stage 0 carcinoma of uterine cervix", "FIGO stage 0 cervical carcinoma", "FIGO stage 0 cervix carcinoma", "FIGO stage 0 cervix uteri carcinoma", "FIGO stage 0 uterine cervix carcinoma", "carcinoma in situ of cervix aJCC v6", "carcinoma in situ of cervix uteri aJCC v6", "carcinoma in situ of the cervix aJCC v6", "carcinoma in situ of the cervix uteri aJCC v6", "carcinoma in situ of the uterine cervix aJCC v6", "carcinoma in situ of uterine cervix", "carcinoma in situ of uterine cervix aJCC v6", "cervical Severe dysplasia aJCC v6", "cervical cancer stage 0 aJCC v6", "cervical carcinoma in situ aJCC v6", "cervical intraepithelial neoplasia grade 3 aJCC v6", "cervix Severe dysplasia aJCC v6", "cervix carcinoma in situ aJCC v6", "cervix intraepithelial neoplasia grade 3 aJCC v6", "cervix uteri Severe dysplasia aJCC v6", "cervix uteri carcinoma in situ aJCC v6", "cervix uteri intraepithelial neoplasia grade 3 aJCC v6", "grade 3 cervical intraepithelial neoplasia aJCC v6", "intraepithelial neoplasia of cervix grade 3 aJCC v6", "intraepithelial neoplasia of cervix uteri grade 3 aJCC v6", "intraepithelial neoplasia of the cervix grade 3 aJCC v6", "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6", "intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6", "intraepithelial neoplasia of uterine cervix grade 3 aJCC v6", "severe cervical dysplasia aJCC v6", "severe dysplasia of cervix aJCC v6", "severe dysplasia of cervix uteri aJCC v6", "severe dysplasia of the cervix aJCC v6", "severe dysplasia of the cervix uteri aJCC v6", "severe dysplasia of the uterine cervix aJCC v6", "severe dysplasia of uterine cervix aJCC v6", "stage 0 cervical cancer", "stage 0 cervical cancer aJCC v6", "stage 0 uterine cervix carcinoma", "uterine cervix Severe dysplasia aJCC v6", "uterine cervix carcinoma in situ aJCC v6", "uterine cervix intraepithelial neoplasia grade 3 aJCC v6"], "xref": ["DOID:8991", "ICD9:233.1", "MEDGEN:163094", "MESH:D018290", "NCIT:C4000", "SCTID:254889004", "UMLS:C0851140"]}
{"category": ["biolink:Disease"], "description": "Infections with true tapeworms of the helminth subclass Cestoda.", "id": "MONDO:0042488", "name": "Cestode infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Cestoda caused disease or disorder", "Cestoda disease or disorder", "Cestoda infectious disease", "cestode infection"], "xref": ["ICD9:123.8", "ICD9:123.9", "MESH:D002590", "SCTID:86133004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042490", "name": "Neutropenia, severe congenital, 1, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["neutropenia, severe congenital 1, autosomal dominant", "neutropenia, severe congenital, 1, autosomal dominant"], "xref": ["DOID:0080625", "GARD:0025849", "MEDGEN:348506", "MESH:C565969", "OMIM:202700", "UMLS:C1859966"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.", "id": "MONDO:0042491", "name": "Cervical squamous intraepithelial neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CIN", "cervical sil", "cervical squamous intraepithelial lesion", "cervical squamous intraepithelial neoplasia", "cervix squamous intraepithelial lesion", "cervix uteri sil", "cervix uteri squamous intraepithelial lesion", "squamous intraepithelial lesion of cervix", "squamous intraepithelial lesion of cervix uteri", "squamous intraepithelial lesion of the cervix", "squamous intraepithelial lesion of the cervix uteri", "squamous intraepithelial lesion of the uterine cervix", "squamous intraepithelial lesion of uterine cervix", "uterine cervix sil", "uterine cervix squamous intraepithelial lesion"], "xref": ["GARD:0025850", "MEDGEN:234116", "MESH:D065310", "NCIT:C7346", "UMLS:C1332922"]}
{"category": ["biolink:Disease"], "description": "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.", "id": "MONDO:0042493", "name": "Gastric non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["gastric non-Hodgkin lymphoma", "gastric non-Hodgkin's lymphoma", "non-Hodgkin lymphoma of stomach", "non-Hodgkin's lymphoma of stomach", "non-Hodgkin's lymphoma of the stomach", "primary gastric non-Hodgkin's lymphoma", "stomach non-Hodgkin lymphoma"], "xref": ["GARD:0000089", "MEDGEN:232549", "NCIT:C27235", "SCTID:448709005", "UMLS:C1333784"]}
{"category": ["biolink:Disease"], "description": "A melanoma that occurs during childhood.", "id": "MONDO:0042494", "name": "Childhood malignant melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["childhood melanoma", "childhood melanoma (disease)", "melanoma (disease) of childhood", "paediatric melanoma (disease)", "pediatric melanoma (disease)"], "xref": ["GARD:0000091", "MEDGEN:1374316", "NCIT:C131506", "UMLS:C4329660"]}
{"category": ["biolink:Disease"], "description": "A arteriosclerosis disorder that involves the retina.", "id": "MONDO:0042495", "name": "Arteriosclerotic retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["arteriosclerosis disorder of retina", "arteriosclerotic retinopathy", "retina arteriosclerosis disorder"], "xref": ["ICD9:440.8", "MEDGEN:573178", "SCTID:95691008", "UMLS:C0339478"]}
{"category": ["biolink:Disease"], "description": "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.", "id": "MONDO:0042496", "name": "Ergotism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ergotism"], "xref": ["ICD9:988.2", "MESH:D004881", "SCTID:51510002", "icd11.foundation:1013848192"]}
{"category": ["biolink:Disease"], "description": "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).", "id": "MONDO:0042497", "name": "Mycotoxicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Fungi caused poisoning", "Fungi poisoning"], "xref": ["MESH:D015651", "SCTID:26033009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042498", "name": "Ruzicka-goerz-anton syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Ruzicka Goerz Anton syndrome"], "xref": ["MEDGEN:444055", "MESH:C537192", "UMLS:C2931438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042499", "name": "Benign familial neonatal-infantile seizures 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081114", "GARD:0000856", "MEDGEN:1638448", "OMIM:601764", "UMLS:C4551769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042600", "name": "De Sanctis-Cacchione syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419806", "UMLS:C2931447"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042601", "name": "Samson-gardner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419807", "MESH:C537230", "UMLS:C2931448"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042602", "name": "Samson-viljoen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419808", "MESH:C537231", "UMLS:C2931449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042603", "name": "Sanderson-fraser syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419081", "MESH:C537232", "UMLS:C2931450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042604", "name": "Sandhaus-ben-ami syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444058", "MESH:C537233", "UMLS:C2931451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042605", "name": "Y chromosome infertility due to daz1 deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000185", "HGNC:2682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042705", "name": "Prostatic malacoplakia associated with prostatic abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419811", "MESH:C537244", "UMLS:C2931457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042717", "name": "Saul-wilkes-stevenson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419372", "MESH:C536617", "UMLS:C2931266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042726", "name": "Macrogyria, pseudobulbar palsy and intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000174", "MEDGEN:419450", "MESH:C537722", "UMLS:C2931598"]}
{"category": ["biolink:Disease"], "description": "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.", "id": "MONDO:0042727", "name": "Sacrococcygeal teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["pre-sacral teratoma", "presacral teratoma", "sacrococcygeal teratoma"], "xref": ["GARD:0000319", "HP:0030736", "MEDGEN:107852", "NANDO:2100216", "NANDO:2200816", "NANDO:2201287", "NCIT:C99055", "NORD:1685", "Orphanet:494421", "SCTID:281561000", "UMLS:C0559459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042911", "name": "Schwartz-cohen-addad-lambert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443962", "MESH:C535835", "UMLS:C2931036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042912", "name": "Schlegelberger-grote syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419761", "MESH:C536635", "UMLS:C2931273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042913", "name": "Schrander-stumpel-theunissen-hulsmans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419033", "MESH:C536639", "UMLS:C2931275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042956", "name": "Saal-bulas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419079", "MESH:C537193", "UMLS:C2931439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042960", "name": "Sackey-sakati-aur syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444056", "MESH:C537219", "UMLS:C2931442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042961", "name": "Sacral hemangiomas multiple congenital abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000317", "MEDGEN:419414", "MESH:C537222", "UMLS:C2931443"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042962", "name": "Slti-salem syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025851", "MEDGEN:419036", "MESH:C536673", "UMLS:C2931284"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.", "id": "MONDO:0042963", "name": "Wandering spleen", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:rare"], "synonym": ["wandering spleen"], "xref": ["GARD:0000328", "MEDGEN:75782", "MESH:D050805", "NCIT:C85224", "NORD:1836", "SCTID:191384005", "UMLS:C0272414"]}
{"category": ["biolink:Disease"], "description": "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.", "id": "MONDO:0042964", "name": "Machado-joseph disease type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["azorean disease, type iv"], "xref": ["GARD:0025852", "ICD9:334.3", "MEDGEN:673233", "SCTID:91956006", "UMLS:C0686352"]}
{"category": ["biolink:Disease"], "description": "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0042966", "name": "Inherited mitral valve disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital anomaly of mitral valve", "hereditary mitral valve disease"], "xref": ["MEDGEN:539532", "SCTID:75372006", "UMLS:C0265845"]}
{"category": ["biolink:Disease"], "description": "A rheumatologic disorder that involves the mitral valve.", "id": "MONDO:0042967", "name": "Rheumatic disease of mitral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mitral valve rheumatologic disorder", "rheumatic disease of mitral valve", "rheumatologic disorder of mitral valve"], "xref": ["MEDGEN:538824", "SCTID:83898004", "UMLS:C0264765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042968", "name": "Partial duplication of chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025853"]}
{"category": ["biolink:Disease"], "description": "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.", "id": "MONDO:0042969", "name": "Partial duplication of the long arm of chromosome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["MEDGEN:208641", "MESH:C538300", "UMLS:C0795846"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of glutamate decarboxylase activity.", "id": "MONDO:0042970", "name": "Disorder of glutamate decarboxylase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["deficiency of glutamate decarboxylase", "disorder of glutamate decarboxylase activity", "glutamate decarboxylase activity disease"], "xref": ["GARD:0002505", "GTR:AN0168165", "GTR:AN0264281", "ICD9:277.6", "MEDGEN:452941", "SCTID:124596009", "UMLS:C1291560"]}
{"category": ["biolink:Disease"], "description": "An infectious embryofetopathy caused by infection with Herpesviridae.", "id": "MONDO:0042971", "name": "Congenital herpes virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Herpesviridae caused infectious embryofetopathy", "Herpesviridae infectious embryofetopathy", "congenital herpes virus infection", "congenital infection caused by herpes virus"], "xref": ["GARD:0002669", "MEDGEN:908142", "SCTID:715337002", "UMLS:C4275250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042972", "name": "Meningococcemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["meningococcemia"], "xref": ["GARD:0027965", "ICD9:036.2", "MEDGEN:6300", "SCTID:4089001", "UMLS:C0025306"]}
{"category": ["biolink:Disease"], "description": "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0042973", "name": "Familial osteosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["hereditary osteosclerosis"]}
{"category": ["biolink:Disease"], "description": "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.", "id": "MONDO:0042974", "name": "Parainfluenza virus type 3 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["human respirovirus 3 caused disease or disorder", "human respirovirus 3 disease or disorder", "human respirovirus 3 infectious disease", "infection due to human parainfluenza virus 3"], "xref": ["GARD:0004215", "ICD9:079.89", "MEDGEN:547264", "SCTID:30270006", "UMLS:C0276324"]}
{"category": ["biolink:Disease"], "description": "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.", "id": "MONDO:0042976", "name": "Vitamin b deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:22669", "MESH:D014804", "NCIT:C35129", "SCTID:47903000", "UMLS:C0042850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042977", "name": "Trichoepithelioma, multiple familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["trichoepithelioma, multiple familial, 1"], "xref": ["DOID:0061187", "GARD:0005262", "OMIM:601606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042979", "name": "Hypokalemic periodic paralysis, type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hypokalemic periodic paralysis, type 1"], "xref": ["GARD:0025854", "MEDGEN:811387", "OMIM:170400", "UMLS:C3714580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0042980", "name": "Westphal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Westphal disease"], "xref": ["GARD:0005557", "GTR:AN0099343", "GTR:AN0099344", "GTR:AN0099345", "MEDGEN:224821", "MESH:C536694", "SCTID:182747006", "UMLS:C1279186"]}
{"category": ["biolink:Disease"], "description": "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.", "id": "MONDO:0042981", "name": "Aortic valve stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AS", "aortic stenosis"], "xref": ["DOID:1712", "HP:0001650", "ICD10CM:I06.0", "ICD9:395.0", "MEDGEN:1621", "MESH:D001024", "NANDO:2200306", "NCIT:C50462", "SCTID:60573004", "SCTID:72011007", "UMLS:C0003507", "icd11.foundation:956813047"]}
{"category": ["biolink:Disease"], "description": "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).", "id": "MONDO:0042982", "name": "Gata2 deficiency with susceptibility to mds/aml", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:predisposition", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["GATA2 deficiency", "GATA2 deficiency with susceptibility to MDS/AML"], "xref": ["GARD:0027059", "NCIT:C126349"]}
{"category": ["biolink:Disease"], "description": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.", "id": "MONDO:0042983", "name": "Neurocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurocutaneous syndrome"], "xref": ["MEDGEN:82706", "MESH:D020752", "NANDO:2100220", "NCIT:C84348", "SCTID:78572006", "UMLS:C0265316"]}
{"category": ["biolink:Disease"], "description": "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0043003", "name": "Familial acanthosis nigricans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hereditary acanthosis nigricans (disease)"], "xref": ["MEDGEN:419638", "MESH:C531598", "OMIM:100600", "UMLS:C2930792"]}
{"category": ["biolink:Disease"], "description": "A jauncice caused by severe leptospirosis.", "id": "MONDO:0043004", "name": "Weil's disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Weil's disease"], "xref": ["GARD:0025855", "ICD10CM:A27.0", "MEDGEN:21912", "MESH:D014895", "SCTID:398067003", "UMLS:C0043102"]}
{"category": ["biolink:Disease"], "description": "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0043009", "name": "Hereditary lethal multiple congenital anomalies/dysmorphic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic lethal multiple congenital anomalies/dysmorphic syndrome"], "xref": ["GARD:0021947", "MEDGEN:1843298", "Orphanet:471383", "UMLS:C5681265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043069", "name": "Zerres rietschel majewski syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000338", "MEDGEN:419769", "MESH:C536724", "UMLS:C2931301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043071", "name": "Zazam sheriff phillips syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027966", "MEDGEN:419768", "MESH:C536723", "UMLS:C2931300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043073", "name": "Zadik-barak-levin syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444023", "MESH:C536721", "UMLS:C2931298"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043075", "name": "Neuroaxonal dystrophy renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000349", "MEDGEN:419816", "MESH:C537386", "UMLS:C2931479"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043077", "name": "Weinstein kliman scully syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0000392", "MEDGEN:419765", "MESH:C536688", "UMLS:C2931289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043083", "name": "Coronal synostosis, syndactyly and jejunal atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001532", "MEDGEN:419740", "MESH:C536445", "UMLS:C2931194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043085", "name": "Chromosome 1, uniparental disomy 1q12 q21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0001878", "MEDGEN:419882", "MESH:C538085", "UMLS:C2931726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043087", "name": "Thickened earlobes with conductive deafness from incus-stapes abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["thickened earlobes with conductive deafness from incus-stapes abnormalities"], "xref": ["MEDGEN:419750", "MESH:C536511", "UMLS:C2931222"]}
{"category": ["biolink:Disease"], "description": "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.", "id": "MONDO:0043089", "name": "Acute posterior multifocal placoid pigment epitheliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Epitheliopathy, Acute Posterior Multifocal Placoid Pigment", "acute posterior multifocal placoid pigment epitheliopathy"], "xref": ["GARD:0002183", "ICD10CM:H30.14", "MEDGEN:56348", "NORD:1101", "SCTID:89188001", "UMLS:C0154884", "icd11.foundation:2036282532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043094", "name": "Ichthyosis, follicular", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["follicular ichthyosis"], "xref": ["GARD:0002355", "MEDGEN:98025", "NANDO:1200628", "SCTID:238627002", "UMLS:C0406344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043096", "name": "Holoacardius amorphus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Holoacardius amorphus"], "xref": ["GARD:0002720", "MEDGEN:75621", "Orphanet:2161", "SCTID:41049003", "UMLS:C0266719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043099", "name": "Hordnes engebretsen knudtson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0002736", "MEDGEN:419333", "MESH:C536067", "UMLS:C2931100"]}
{"category": ["biolink:Disease"], "description": "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.", "id": "MONDO:0043101", "name": "Hypothalamic dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypothalamic dysfunction", "hypothalamic syndrome"], "xref": ["MEDGEN:155833", "SCTID:111568001", "UMLS:C0751230"]}
{"category": ["biolink:Disease"], "description": "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.", "id": "MONDO:0043103", "name": "Hypothyroidism due to iodide transport defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hypothyroidism due to iodide transport defect", "iodide Transport defect", "iodide transport defect"], "xref": ["GARD:0002938", "MEDGEN:124412", "NCIT:C121747", "SCTID:22558005", "UMLS:C0271826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043106", "name": "Ichthyosis linearis circumflexa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ichthyosis linearis circumflexa"], "xref": ["GARD:0002967", "MEDGEN:78578", "SCTID:54336006", "UMLS:C0265962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043108", "name": "Infantile striato thalamic degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["Orphanet:1575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043110", "name": "Jones hersh yusk syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003055", "MEDGEN:418974", "MESH:C535885", "UMLS:C2931054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043112", "name": "Lachiewicz sibley syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419151", "MESH:C538131", "UMLS:C2931742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043114", "name": "Landy-donnai syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419417", "MESH:C537266", "UMLS:C2931460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043116", "name": "Iida kannari syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003249", "MEDGEN:443989", "MESH:C536284", "UMLS:C2931159"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043120", "name": "Male pseudohermaphroditism due to defective lh molecule", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003356", "HGNC:6584", "MEDGEN:372012", "MESH:C535692", "UMLS:C1835303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043123", "name": "Massa casaer ceulemans syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003407", "MEDGEN:418986", "MESH:C536031", "UMLS:C2931090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043125", "name": "Mcpherson robertson cammarano syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419888", "MESH:C538161", "UMLS:C2931751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043127", "name": "Mehta lewis patton syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003450", "MEDGEN:419340", "MESH:C536147", "UMLS:C2931120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043129", "name": "Merlob grunebaum reisner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419427", "MESH:C537461", "UMLS:C2931499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043131", "name": "Michels caskey syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0003590", "MEDGEN:419102", "MESH:C537576", "UMLS:C2931537"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043133", "name": "Microcephaly micropenis convulsions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["microcephaly micropenis convulsions"], "xref": ["GARD:0003628", "MEDGEN:444076", "MESH:C537540", "UMLS:C2931525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043135", "name": "Microcephaly microphthalmos blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419434", "MESH:C537541", "UMLS:C2931526"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043137", "name": "Isolated microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003630", "MEDGEN:419828", "MESH:C537542", "UMLS:C2931527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043139", "name": "Microcephaly sparse hair intellectual disability seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025856", "MEDGEN:444077", "MESH:C537545", "UMLS:C2931530"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043141", "name": "Microdontia hypodontia short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0003638", "MEDGEN:419435", "MESH:C537553", "UMLS:C2931532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043143", "name": "Microphthalmia microtia fetal akinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0003650", "MEDGEN:444005", "MESH:C536513", "Orphanet:2547", "UMLS:C2931224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043152", "name": "Negative rheumatoid factor polyarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:444150", "MESH:C538347", "NANDO:2201057", "UMLS:C2931825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043154", "name": "Neonatal ovarian cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:443996", "MESH:C536396", "UMLS:C2931186"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043156", "name": "Nephrotic syndrome ocular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027967", "MEDGEN:419736", "MESH:C536403", "UMLS:C2931188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043162", "name": "Pagon stephan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0004195", "MEDGEN:419885", "MESH:C538100", "UMLS:C2931733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043164", "name": "Palmer pagon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004199", "MEDGEN:419886", "MESH:C538107", "Orphanet:2184", "UMLS:C2931734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043166", "name": "Pancreatic lipomatosis duodenal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419702", "MESH:C535839", "UMLS:C2931040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043168", "name": "Panostotic fibrous dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025857", "MEDGEN:419799", "MESH:C537164", "UMLS:C2931430"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043170", "name": "Pavone fiumara rizzo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pavone Fiumara Rizzo syndrome"], "xref": ["MEDGEN:419352", "MESH:C536313", "UMLS:C2931172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043172", "name": "Pfeiffer rockelein syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419465", "MESH:C537890", "UMLS:C2931656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043174", "name": "Pfeiffer tietze welte syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419859", "MESH:C537891", "UMLS:C2931657"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043176", "name": "Phosphoribosylpyrophosphate synthetase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["deafness hyperuricemia neurologic ataxia"], "xref": ["GARD:0025858", "HGNC:9462", "MEDGEN:220944", "MESH:C535995", "MESH:C537897", "SCTID:124343001", "UMLS:C1291401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043179", "name": "Piepkorn karp hickok syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:418962", "MESH:C535774", "UMLS:C2931016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043183", "name": "Podder-tolmie syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419827", "MESH:C537518", "UMLS:C2931519"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043185", "name": "Pointer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:208668", "MESH:C536323", "UMLS:C0796118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043191", "name": "Radial defect robin sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0004624", "MEDGEN:419346", "MESH:C536261", "UMLS:C2931143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043193", "name": "Richieri-costa guion-almeida cohen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Richieri-costa Guion-Almeida Cohen syndrome"], "xref": ["MEDGEN:419687", "MESH:C535676", "UMLS:C2930979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043195", "name": "Rubinstein taybi like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:418972", "MESH:C535877", "OMIM:180850", "UMLS:C2931052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043197", "name": "Ruvalcaba churesigaew myhre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419412", "MESH:C537190", "UMLS:C2931437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043199", "name": "Short limb dwarf lethal colavita kozlowski type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:419106", "MESH:C537597", "UMLS:C2931544"]}
{"category": ["biolink:Disease"], "description": "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.", "id": "MONDO:0043206", "name": "Trichostasis spinulosa", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["trichostasis spinulosa"], "xref": ["MEDGEN:82669", "MESH:C536558", "SCTID:21049007", "UMLS:C0263487", "icd11.foundation:509265047"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043207", "name": "Urethral obstruction sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["early urethral obstruction sequence"], "xref": ["GARD:0005428", "MEDGEN:75568", "MESH:C536477", "SCTID:18241005", "UMLS:C0265363"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.", "id": "MONDO:0043209", "name": "Albinism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["albinism"], "xref": ["ICD10CM:E70.3", "MEDGEN:182", "MESH:D000417", "NCIT:C84543", "SCTID:15890002", "UMLS:C0001916"]}
{"category": ["biolink:Disease"], "description": "A disorder of the nervous system related to a vascular etiology.", "id": "MONDO:0043218", "name": "Neurovascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of nervous system vasculature", "nervous system disorder of vasculature", "neurovascular disorder", "vasculature nervous system disorder"], "xref": ["MEDGEN:857738", "NCIT:C117007", "UMLS:C3898144"]}
{"category": ["biolink:Disease"], "description": "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.", "id": "MONDO:0043219", "name": "Migraine with brainstem aura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["basilar artery migraine with aura", "basilar migraine", "basilar-type migraine"], "xref": ["GARD:0005896", "MEDGEN:82857", "NCIT:C117013", "SCTID:83351003", "UMLS:C0270860", "icd11.foundation:2022157084"]}
{"category": ["biolink:Disease"], "description": "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.", "id": "MONDO:0043224", "name": "Multi-infarct dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["multi infarct dementia", "multi-infarct dementia"], "xref": ["MEDGEN:8277", "MESH:D015161", "NCIT:C34522", "SCTID:56267009", "UMLS:C0011263", "icd11.foundation:645643099"]}
{"category": ["biolink:Disease"], "description": "A postpartum condition consists of persistent lactation and amenorrhea in patients not breast feeding.", "id": "MONDO:0043226", "name": "Postpartum amenorrhea-galactorrhea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Chiari-Frommel syndrome", "postpartum amenorrhea-galactorrhea syndrome"], "xref": ["GARD:0006037", "MEDGEN:2993", "MESH:D002640", "SCTID:85039006", "UMLS:C0008043"]}
{"category": ["biolink:Disease"], "description": "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.", "id": "MONDO:0043230", "name": "Ciguatera fish poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ciguatera fish poisoning", "ciguatoxin causing toxic effect"], "xref": ["EFO:1001291", "ICD10CM:T61.0", "MESH:D036841", "SCTID:241774007"]}
{"category": ["biolink:Disease"], "description": "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)", "id": "MONDO:0043233", "name": "Exfoliative dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["exfoliative dermatitis"], "xref": ["EFO:0009456", "ICD10CM:L26", "ICD10WHO:L26", "MEDGEN:3767", "MESH:D003873", "NCIT:C39646", "SCTID:399992009", "UMLS:C0011606"]}
{"category": ["biolink:Disease"], "description": "Painful sensations in the tongue, including a sensation of burning.", "id": "MONDO:0043237", "name": "Glossodynia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["glossodynia"], "xref": ["ICD10CM:K14.6", "MEDGEN:6617", "MESH:D005926", "SCTID:30731004", "UMLS:C0017672", "icd11.foundation:1755751917"]}
{"category": ["biolink:Disease"], "description": "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.", "id": "MONDO:0043240", "name": "Hemophilic arthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hemophilic arthritis", "hemophilic arthropathy"], "xref": ["ICD10CM:M36.2", "MEDGEN:120487", "NCIT:C27039", "SCTID:80813006", "UMLS:C0263725"]}
{"category": ["biolink:Disease"], "description": "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.", "id": "MONDO:0043243", "name": "Leukoplakia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["keratotic plaque", "leukoplakia"], "xref": ["MEDGEN:44133", "MESH:D007971", "NCIT:C3186", "SCTID:274134003", "UMLS:C0023531"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.", "id": "MONDO:0043247", "name": "Mallory-weiss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["Mallory-Weiss syndrome"], "xref": ["GARD:0027968", "ICD10CM:K22.6", "MEDGEN:44265", "MESH:D008309", "NCIT:C84881", "SCTID:35265002", "UMLS:C0024633"]}
{"category": ["biolink:Disease"], "description": "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.", "id": "MONDO:0043251", "name": "Odontoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibro-odontoma", "fibroodontoma", "odontoma", "odontoma, benign"], "xref": ["ICDO:9280/0", "MEDGEN:45181", "MESH:D009810", "NCIT:C3287", "UMLS:C0028882"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043254", "name": "Papular urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["papular urticaria", "prurigo simplex"], "xref": ["MEDGEN:78091", "MESH:C537169", "SCTID:55608001", "UMLS:C0263352", "icd11.foundation:1014677494"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043257", "name": "Pemphigus and fogo selvagem", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Brazilian pemphigus foliaceus"], "xref": ["GARD:0007353", "HGNC:3048", "MEDGEN:120470", "MESH:C535551", "Orphanet:636955", "SCTID:46459009", "UMLS:C0263314"]}
{"category": ["biolink:Disease"], "description": "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)", "id": "MONDO:0043264", "name": "Post-traumatic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["post-traumatic epilepsy"], "xref": ["MEDGEN:4991", "MESH:D004834", "SCTID:75023009", "UMLS:C0014557"]}
{"category": ["biolink:Disease"], "description": "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.", "id": "MONDO:0043267", "name": "Rheumatoid vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["rheumatoid vasculitis"], "xref": ["GARD:0007577", "MEDGEN:69122", "MESH:D056653", "NANDO:1200265", "SCTID:400054000", "UMLS:C0240903", "icd11.foundation:1398254566"]}
{"category": ["biolink:Disease"], "description": "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.", "id": "MONDO:0043275", "name": "Torch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TORCH infection", "TORCH syndrome", "torch syndrome", "toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome"], "xref": ["DOID:0080835", "MEDGEN:78715", "NCIT:C98609", "SCTID:41679006", "UMLS:C0270173"]}
{"category": ["biolink:Disease"], "description": "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).", "id": "MONDO:0043277", "name": "Mosaic trisomy 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0007815", "MEDGEN:96603", "NCIT:C36475", "SCTID:205647005", "UMLS:C0432414"]}
{"category": ["biolink:Disease"], "description": "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.", "id": "MONDO:0043280", "name": "Wallerian degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Wallerian Degeneration"], "xref": ["MEDGEN:12132", "MESH:D014855", "NCIT:C85223", "UMLS:C0043020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043283", "name": "Silicosiderosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["siderosilicosis", "silicosiderosis"], "xref": ["GARD:0008372", "MEDGEN:5480", "MESH:C537337", "SCTID:34004002", "UMLS:C0018929", "icd11.foundation:273225437"]}
{"category": ["biolink:Disease"], "description": "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.", "id": "MONDO:0043287", "name": "Superior vena cava syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["superior vena cava syndrome"], "xref": ["MEDGEN:52576", "MESH:D013479", "NCIT:C3396", "SCTID:63363004", "UMLS:C0038833"]}
{"category": ["biolink:Disease"], "description": "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.", "id": "MONDO:0043291", "name": "Rokitansky-aschoff sinuses of the gallbladder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Aschoff-Rokitansky sinuses"], "xref": ["MEDGEN:78636", "MESH:C535869", "SCTID:22149007", "UMLS:C0267892"]}
{"category": ["biolink:Disease"], "description": "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.", "id": "MONDO:0043294", "name": "Linear scleroderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["linear Scleroderma", "linear scleroderma"], "xref": ["GARD:0009513", "ICD10CM:L94.1", "MEDGEN:75518", "NCIT:C116780", "SCTID:22784002", "UMLS:C0263409"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Vibrio vulnificus.", "id": "MONDO:0043297", "name": "Vibrio vulnificus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Vibrio vulnificus caused disease or disorder", "Vibrio vulnificus disease or disorder", "Vibrio vulnificus infectious disease", "vibrio vulnificus infection", "vibrio vulnificus infectious disease"], "xref": ["GARD:0009584", "MEDGEN:220886", "MESH:C536348", "SCTID:402965002", "UMLS:C1274377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043300", "name": "Actinic cheilitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["actinic cheilitis"], "xref": ["MEDGEN:75625", "MESH:C535669", "NCIT:C183562", "SCTID:46795000", "UMLS:C0267026", "icd11.foundation:436658980"]}
{"category": ["biolink:Disease"], "description": "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.", "id": "MONDO:0043303", "name": "Hyperacusis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["hyperacusis"], "xref": ["GARD:0027969", "ICD10CM:H93.23", "MEDGEN:20497", "MESH:D012001", "NCIT:C116366", "SCTID:25289003", "UMLS:C0034880", "icd11.foundation:652034206"]}
{"category": ["biolink:Disease"], "description": "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)", "id": "MONDO:0043310", "name": "Amaurosis fugax", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["amaurosis fugax"], "xref": ["ICD10CM:G45.3", "MEDGEN:57702", "MESH:D020757", "NCIT:C84550", "SCTID:88032003", "UMLS:C0149793", "icd11.foundation:691084626"]}
{"category": ["biolink:Disease"], "description": "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.", "id": "MONDO:0043314", "name": "Aquarium granuloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Mycobacterium marinum caused skin disease", "Mycobacterium marinum skin disease", "aquarium granuloma", "fish tank granuloma"], "xref": ["MEDGEN:78814", "MESH:C535526", "SCTID:240417004", "UMLS:C0275708"]}
{"category": ["biolink:Disease"], "description": "A form of dermatomyositis characterized by the presence of typical skin finding swithout muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.", "id": "MONDO:0043317", "name": "Amyopathic dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["amyopathic dermatomyositis", "dermatomyositis sine myositis"], "xref": ["GARD:0009907", "MEDGEN:96065", "MESH:C538250", "NANDO:1200275", "Orphanet:645617", "SCTID:238935002", "UMLS:C0406645", "icd11.foundation:727262285"]}
{"category": ["biolink:Disease"], "description": "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.", "id": "MONDO:0043320", "name": "Piriformis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["piriformis muscle syndrome", "piriformis syndrome"], "xref": ["GARD:0010026", "MEDGEN:141601", "MESH:D055958", "NCIT:C85012", "SCTID:129179000", "UMLS:C0458224"]}
{"category": ["biolink:Disease"], "description": "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).", "id": "MONDO:0043327", "name": "Cerebrospinal fluid leak", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebrospinal fluid leak"], "xref": ["ICD10CM:G96.0", "MEDGEN:9695", "MESH:D065634", "SCTID:230744007", "UMLS:C0023182"]}
{"category": ["biolink:Disease"], "description": "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.", "id": "MONDO:0043330", "name": "Mirizzi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Mirizzi syndrome", "mirizzi's syndrome"], "xref": ["GARD:0010177", "MEDGEN:120605", "MESH:D057792", "Orphanet:521219", "SCTID:4283007", "UMLS:C0267878", "icd11.foundation:381742412"]}
{"category": ["biolink:Disease"], "description": "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.", "id": "MONDO:0043339", "name": "Lathyrism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Lathyrus species poisoning", "lathyrism"], "xref": ["MESH:D007842", "SCTID:5724005"]}
{"category": ["biolink:Disease"], "description": "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.", "id": "MONDO:0043343", "name": "Chilaiditi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["subphrenic interposition syndrome"], "xref": ["MEDGEN:452355", "MESH:D059269", "SCTID:14911005", "UMLS:C0267494"]}
{"category": ["biolink:Disease"], "description": "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.", "id": "MONDO:0043346", "name": "Progressive transformation of germinal centers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["progressive transformation of Germinal centers", "progressive transformation of Germinal centres"], "xref": ["GARD:0010712", "MEDGEN:271018", "MESH:C548085", "NCIT:C38408", "UMLS:C1514481"]}
{"category": ["biolink:Disease"], "description": "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.", "id": "MONDO:0043349", "name": "Intravascular papillary endothelial hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Masson lesion", "Masson pseudotumor", "Masson's pseudosarcoma", "Masson's pseudotumor", "Masson's vegetant hemangioma", "intravascular papillary endothelial hyperplasia", "papillary endothelial hyperplasia"], "xref": ["GARD:0027060", "MEDGEN:91005", "NCIT:C4391", "Orphanet:673525", "SCTID:238770007", "UMLS:C0343083", "icd11.foundation:1397961760"]}
{"category": ["biolink:Disease"], "description": "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.", "id": "MONDO:0043352", "name": "Fournier gangrene", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fournier gangrene", "fournier's gangrene"], "xref": ["ICD10CM:N49.3", "MEDGEN:65967", "MESH:D018934", "SCTID:398318005", "UMLS:C0238419"]}
{"category": ["biolink:Disease"], "description": "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.", "id": "MONDO:0043355", "name": "Collagenous gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["collagenous gastritis"], "xref": ["MEDGEN:872908", "NCIT:C122082", "SCTID:711499009", "UMLS:C4040043"]}
{"category": ["biolink:Disease"], "description": "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.", "id": "MONDO:0043358", "name": "Engraftment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["engraftment syndrome"], "xref": ["GARD:0011909", "MEDGEN:214709", "NCIT:C63324", "SCTID:426768001", "UMLS:C0919746"]}
{"category": ["biolink:Disease"], "description": "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.", "id": "MONDO:0043361", "name": "May-thurner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["May-Thurner syndrome", "iliac vein compression syndrome"], "xref": ["GARD:0027061", "MEDGEN:473753", "MESH:D062108", "Orphanet:675404", "SCTID:448804008", "UMLS:C3165062"]}
{"category": ["biolink:Disease"], "description": "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.", "id": "MONDO:0043364", "name": "Eosinophil peroxidase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["eosinophil peroxidase deficiency"], "xref": ["GARD:0012361", "MEDGEN:342386", "MESH:C564893", "OMIM:261500", "SCTID:711160007", "UMLS:C1850000"]}
{"category": ["biolink:Disease"], "description": "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.", "id": "MONDO:0043370", "name": "Secondary adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["central Hypoadrenalism", "central adrenal insufficiency", "hypocortisolism secondary to another disorder", "secondary adrenal insufficiency"], "xref": ["MEDGEN:184925", "NCIT:C62602", "SCTID:16685009", "UMLS:C0948387"]}
{"category": ["biolink:Disease"], "description": "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.", "id": "MONDO:0043373", "name": "Sudden sensorineural hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["sudden sensorineural hearing loss"], "xref": ["GARD:0012927", "MEDGEN:907022", "MESH:D003639", "Orphanet:90059", "SCTID:715239002", "UMLS:C4275242"]}
{"category": ["biolink:Disease"], "description": "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.", "id": "MONDO:0043377", "name": "Juvenile spondyloarthropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["JSpA", "juvenile Spondyloarthritis", "juvenile spondyloarthropathy"], "xref": ["MEDGEN:592564", "NCIT:C114347", "SCTID:239806000", "UMLS:C0409676"]}
{"category": ["biolink:Disease"], "description": "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.", "id": "MONDO:0043424", "name": "Digestive system infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["digestive system infection", "gastrointestinal infection", "gastrointestinal system infection"], "xref": ["NCIT:C35503", "SCTID:715852004"]}
{"category": ["biolink:Disease"], "description": "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.", "id": "MONDO:0043452", "name": "Chromosome 8, trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025859", "MEDGEN:98158", "MESH:C537942", "NCIT:C36396", "SCTID:205649008", "UMLS:C0432412"]}
{"category": ["biolink:Disease"], "description": "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.", "id": "MONDO:0043455", "name": "Humoral hypercalcemia of malignancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["humoral hypercalcemia of malignancy", "hypercalcemia of malignancy"], "xref": ["GARD:0025860", "MEDGEN:56210", "MESH:C562390", "NCIT:C3496", "SCTID:47709007", "UMLS:C0149911"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.", "id": "MONDO:0043459", "name": "Radiation-induced disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["radiation-induced Abnormality", "radiation-induced abnormalities", "radiation-induced disorder"], "xref": ["EFO:0009565", "GARD:0022139", "MEDGEN:734320", "MESH:D000016", "NCIT:C26684", "Orphanet:521132", "SCTID:85983004", "UMLS:C1527225"]}
{"category": ["biolink:Disease"], "description": "Absence of hydrochloric acid in the gastric juice.", "id": "MONDO:0043465", "name": "Achlorhydria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["achlorhydria"], "xref": ["ICD10CM:K31.83", "MEDGEN:1714", "MESH:D000126", "NCIT:C2850", "SCTID:47481007", "UMLS:C0001075", "icd11.foundation:157689543"]}
{"category": ["biolink:Disease"], "description": "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.", "id": "MONDO:0043468", "name": "Acne keloid", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acne keloid", "keloidal folliculitis"], "xref": ["ICD10CM:L73.0", "MEDGEN:1720", "MESH:D000153", "NCIT:C34346", "SCTID:238746008", "UMLS:C0001145"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)", "id": "MONDO:0043472", "name": "Ectopic acth secretion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ectopic ACTH secretion", "ectopic ACTH secretion syndrome", "ectopic ACTH syndrome", "hypercortisolism due to nonpituitary tumor", "hypercortisolism due to nonpituitary tumour"], "xref": ["GARD:0025861", "ICD10CM:E24.3", "MEDGEN:103", "MESH:D000182", "NANDO:2200351", "NCIT:C4387", "SCTID:626004", "UMLS:C0001231"]}
{"category": ["biolink:Disease"], "description": "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.", "id": "MONDO:0043475", "name": "Adams-stokes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Stokes-Adams syndrome"], "xref": ["MEDGEN:1741", "MESH:D000219", "NCIT:C79765", "SCTID:46935006", "UMLS:C0001396"]}
{"category": ["biolink:Disease"], "description": "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.", "id": "MONDO:0043479", "name": "Adenoviridae infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Adenoviridae caused disease or disorder", "Adenoviridae disease or disorder", "Adenoviridae infectious disease", "adenoviridae infectious disease", "adenovirus infection", "disease due to adenovirus"], "xref": ["MEDGEN:1754", "MESH:D000257", "NCIT:C115149", "SCTID:25225006", "UMLS:C0001486"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting an artery.", "id": "MONDO:0043494", "name": "Arteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["arteritis", "artery inflammation", "inflammation of artery"], "xref": ["EFO:0009011", "HP:0012089", "MEDGEN:13916", "MESH:D001167", "NCIT:C34399", "SCTID:52089001", "UMLS:C0003860"]}
{"category": ["biolink:Disease"], "description": "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.", "id": "MONDO:0043510", "name": "Brain injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["brain injury", "injury of brain"], "xref": ["MESH:D001930"]}
{"category": ["biolink:Disease"], "description": "Encephalopathy resulting from trauma.", "id": "MONDO:0043512", "name": "Traumatic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["traumatic encephalopathy"], "xref": ["MEDGEN:536661", "NCIT:C35542", "SCTID:230282000", "UMLS:C0236959", "icd11.foundation:1673722101"]}
{"category": ["biolink:Disease"], "id": "MONDO:0043519", "medic_stub": true, "name": "burn", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.", "id": "MONDO:0043523", "name": "Cadmium poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cadmium poisoning"], "xref": ["MESH:D002105", "SCTID:3398004"]}
{"category": ["biolink:Disease"], "description": "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.", "id": "MONDO:0043529", "name": "Carcinoid heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinoid heart disease"], "xref": ["MEDGEN:762", "MESH:D002275", "SCTID:36222008", "UMLS:C0007093"]}
{"category": ["biolink:Disease"], "description": "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.", "id": "MONDO:0043537", "name": "Cluster headache syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Cephalgia, histamine", "Cephalgias, histamine", "Horton headache", "Horton syndrome", "Horton's headache", "Horton's neuralgia", "Horton's syndrome", "Hortons syndrome", "ciliary neuralgia", "ciliary neuralgias", "cluster headache", "cluster headache syndrome", "cluster migraine", "erythromelalgia of the head", "erythroprosopalgia of bing", "histamine cephalgia", "histamine cephalgias", "histamine headache", "migraine, neuralgic", "migraines, neuralgic", "migrainous neuralgia", "red migraine"], "xref": ["MEDGEN:3503", "MESH:D003027", "NCIT:C117077", "Orphanet:1002", "SCTID:193031009", "UMLS:C0009088", "icd11.foundation:760621151"]}
{"category": ["biolink:Disease"], "description": "Conjunctivitis resulting from viral infection.", "id": "MONDO:0043541", "name": "Viral conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Viruses caused conjunctivitis (disease)", "Viruses conjunctivitis (disease)", "viral conjunctivitis"], "xref": ["EFO:0008571", "ICD10CM:B30", "ICD10WHO:B30", "MEDGEN:3212", "MESH:D003236", "NCIT:C34509", "SCTID:45261009", "UMLS:C0009774", "icd11.foundation:157616931"]}
{"category": ["biolink:Disease"], "description": "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.", "id": "MONDO:0043543", "name": "Iatrogenic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["iatrogenic disorder"], "xref": ["ICD10CM:T80-T88", "ICD9:799.9", "MEDGEN:9393", "MESH:D007049", "SCTID:12456005", "UMLS:C0020732"]}
{"category": ["biolink:Disease"], "description": "An infection acquired in a hospital or other healthcare setting.", "id": "MONDO:0043544", "name": "Nosocomial infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_iatrogenic_disease", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Healthcare-associated infection", "hospital-acquired infection", "hospital-onset infection", "nosocomial infection", "nosocomial infectious disease"], "xref": ["MEDGEN:61441", "MESH:D003428", "NCIT:C115164", "SCTID:19168005", "UMLS:C0205721"]}
{"category": ["biolink:Disease"], "description": "A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.", "id": "MONDO:0043549", "name": "Crush syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["crush syndrome"], "xref": ["MEDGEN:3671", "MESH:D003444", "SCTID:23697004", "UMLS:C0010392"]}
{"category": ["biolink:Disease"], "description": "Diarrhea occurring in infants from newborn to 24-months old.", "id": "MONDO:0043555", "name": "Infantile diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diarrheal disease of infancy", "infantile diarrhea", "infantile diarrheal disease", "infantile onset diarrheal disease", "toddler diarrhea", "toddler diarrhoea"], "xref": ["MEDGEN:8361", "MESH:D003968", "SCTID:39963006", "UMLS:C0011992"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the arterial intima.", "id": "MONDO:0043576", "name": "Endarteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["endarteritis", "inflammation of tunica intima of artery", "tunica intima of artery inflammation"], "xref": ["GARD:0025863", "MEDGEN:41777", "MESH:D004692", "NCIT:C34581", "SCTID:33806008", "UMLS:C0014100"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the small intestine.", "id": "MONDO:0043579", "name": "Enteritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["enteritis", "enteritis of small intestine", "inflammation of small intestine", "small intestine inflammation"], "xref": ["MEDGEN:4964", "MESH:D004751", "NCIT:C26765", "SCTID:64613007", "UMLS:C0014335"]}
{"category": ["biolink:Disease"], "description": "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.", "id": "MONDO:0043653", "name": "Herpes labialis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cold sore", "cold sores", "herpes labialis"], "xref": ["MEDGEN:5533", "MESH:D006560", "NCIT:C34695", "SCTID:1475003", "UMLS:C0019345"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.", "id": "MONDO:0043678", "name": "Chromosome inversion disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025864", "MEDGEN:7145", "MESH:D007446", "NCIT:C6827", "UMLS:C0021943"]}
{"category": ["biolink:Disease"], "description": "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.", "id": "MONDO:0043683", "name": "Leriche syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Leriche syndrome", "leriche's syndrome"], "xref": ["MEDGEN:44114", "MESH:D007925", "NCIT:C34773", "SCTID:307816004", "UMLS:C0023370"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.", "id": "MONDO:0043693", "name": "Alcoholic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["alcoholic liver disease", "alcoholic liver diseases"], "xref": ["DOID:0070658", "EFO:0008573", "ICD10CM:K70", "MEDGEN:9793", "MESH:D008108", "NCIT:C34783", "SCTID:41309000", "UMLS:C0023896", "icd11.foundation:469481605"]}
{"category": ["biolink:Disease"], "description": "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.", "id": "MONDO:0043726", "name": "Multiple organ dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["multiorgan failure", "multiple organ dysfunction syndrome", "multiple organ failure", "multiple organ system failure"], "xref": ["MEDGEN:6462", "MESH:D009102", "NCIT:C179648", "SCTID:57653000", "UMLS:C0026766"]}
{"category": ["biolink:Disease"], "description": "Dissolution of bone that particularly involves the removal or loss of calcium.", "id": "MONDO:0043731", "name": "Lytic metastatic bone lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lytic metastatic bone lesion", "osteolysis", "osteolytic lesion"], "xref": ["MEDGEN:137065", "MESH:D010014", "NCIT:C35371", "SCTID:203522001", "UMLS:C0302313"]}
{"category": ["biolink:Disease"], "description": "Necrosis of bone following radiation injury.", "id": "MONDO:0043735", "name": "Osteoradionecrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["osteoradionecrosis"], "xref": ["GARD:0025865", "MEDGEN:10500", "MESH:D010025", "NCIT:C63707", "SCTID:109333005", "UMLS:C0029461"]}
{"category": ["biolink:Disease"], "description": "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.", "id": "MONDO:0043759", "name": "Abdominal ectopic pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abdomen ectopic pregnancy", "abdominal pregnancy", "ectopic pregnancy of abdomen", "intra-abdominal pregnancy"], "xref": ["MEDGEN:46072", "MESH:D011269", "NCIT:C92921", "SCTID:82661006", "UMLS:C0032984"]}
{"category": ["biolink:Disease"], "description": "An abnormal pregnancy in which the conception is implanted in the fallopian tube.", "id": "MONDO:0043762", "name": "Tubal pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectopic pregnancy of fallopian tube", "fallopian tube ectopic pregnancy", "tubal pregnancy"], "xref": ["MEDGEN:10901", "MESH:D011274", "NCIT:C92946", "SCTID:79586000", "UMLS:C0032994", "icd11.foundation:913821868"]}
{"category": ["biolink:Disease"], "description": "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.", "id": "MONDO:0043765", "name": "Presbycusis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ARHI", "age-related hearing impairment", "presbycusis"], "xref": ["ICD10CM:H91.1", "MEDGEN:10911", "MESH:D011304", "NCIT:C116367", "SCTID:49526009", "UMLS:C0033074", "icd11.foundation:1569854675"]}
{"category": ["biolink:Disease"], "description": "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.", "id": "MONDO:0043768", "name": "Thrombocytopenic purpura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["thrombocytopenic purpura"], "xref": ["GARD:0025866", "MEDGEN:208992", "MESH:D011696", "NANDO:2100188", "NCIT:C26870", "SCTID:302873008", "UMLS:C0857305"]}
{"category": ["biolink:Disease"], "description": "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.", "id": "MONDO:0043771", "name": "Radiodermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dermatitis radiation", "radiation dermatitis", "radiation-induced dermatitis", "radiodermatitis"], "xref": ["GARD:0025867", "ICD10CM:L58", "ICD10WHO:L58", "MESH:D011855", "NCIT:C3349", "SCTID:49084001"]}
{"category": ["biolink:Disease"], "description": "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.", "id": "MONDO:0043775", "name": "Respiratory paralysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paralysis of diaphragm"], "xref": ["GARD:0025868", "MEDGEN:19748", "MESH:D012133", "SCTID:64228003", "UMLS:C0035232"]}
{"category": ["biolink:Disease"], "description": "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.", "id": "MONDO:0043777", "name": "Rhinophyma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["rhinophyma"], "xref": ["ICD10CM:L71.1", "MEDGEN:48451", "MESH:D012224", "NCIT:C34989", "SCTID:19877001", "UMLS:C0035466", "icd11.foundation:158901546"]}
{"category": ["biolink:Disease"], "description": "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.", "id": "MONDO:0043783", "name": "Sclerema neonatorum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sclerema neonatorum"], "xref": ["MEDGEN:20677", "MESH:D012593", "NCIT:C35009", "SCTID:206539008", "UMLS:C0036415", "icd11.foundation:1470028414"]}
{"category": ["biolink:Disease"], "description": "Inflammation of a serous membrane.", "id": "MONDO:0043786", "name": "Serositis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["inflammation of serous membrane", "serositis", "serous membrane inflammation"], "xref": ["MEDGEN:20711", "MESH:D012700", "NCIT:C70428", "SCTID:370469003", "UMLS:C0036749"]}
{"category": ["biolink:Disease"], "description": "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.", "id": "MONDO:0043789", "name": "Serum sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["serum sickness", "transfusion reaction due to serum protein reaction"], "xref": ["MEDGEN:11390", "MESH:D012713", "NCIT:C79718", "SCTID:72284000", "UMLS:C0036830", "icd11.foundation:715261250"]}
{"category": ["biolink:Disease"], "description": "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).", "id": "MONDO:0043797", "name": "Spinal cord injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["injury of spinal cord", "spinal cord injury"], "xref": ["MESH:D013119", "Orphanet:90058", "SCTID:90584004"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis of the vertebrae.", "id": "MONDO:0043836", "name": "Tuberculosis, spinal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["pott disease", "pott's disease", "tuberculosis of vertebral column"], "xref": ["GARD:0025869", "MEDGEN:11948", "MESH:D014399", "NCIT:C35087", "SCTID:35984006", "UMLS:C0041330"]}
{"category": ["biolink:Disease"], "description": "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.", "id": "MONDO:0043839", "name": "Ulcer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ulcer", "ulcers"], "xref": ["MEDGEN:22541", "MESH:D014456", "NCIT:C3426", "SCTID:429040005", "UMLS:C0041582"]}
{"category": ["biolink:Disease"], "description": "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.", "id": "MONDO:0043862", "name": "Voice disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurologic voice disorder", "voice disorder"], "xref": ["EFO:0009692", "MEDGEN:12120", "MESH:D014832", "NCIT:C3441", "SCTID:71941009", "UMLS:C0042940"]}
{"category": ["biolink:Disease"], "description": "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.", "id": "MONDO:0043875", "name": "Tumor lysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["tumor lysis syndrome"], "xref": ["GARD:0025870", "ICD10CM:E88.3", "MEDGEN:52890", "MESH:D015275", "NCIT:C3425", "SCTID:277605001", "UMLS:C0041364"]}
{"category": ["biolink:Disease"], "description": "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.", "id": "MONDO:0043878", "name": "Hereditary optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary optic atrophy"], "xref": ["GARD:0025871", "ICD10CM:H47.22", "MEDGEN:45207", "MESH:D015418", "NCIT:C34864", "OMIMPS:165500", "SCTID:26360005", "UMLS:C0029125"]}
{"category": ["biolink:Disease"], "description": "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.", "id": "MONDO:0043885", "name": "Eye infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["eye infection"], "xref": ["MEDGEN:41934", "MESH:D015817", "NCIT:C45372", "SCTID:128351009", "UMLS:C0015403"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.", "id": "MONDO:0043892", "name": "Prosthesis-related infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["device related infection", "prosthesis-related infection"], "xref": ["MESH:D016459", "NCIT:C79705"]}
{"category": ["biolink:Disease"], "description": "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.", "id": "MONDO:0043904", "name": "Leishmaniasis, diffuse cutaneous", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["diffuse cutaneous leishmaniasis"], "xref": ["GARD:0025872", "MEDGEN:39020", "MESH:D016774", "SCTID:38573008", "UMLS:C0085311"]}
{"category": ["biolink:Disease"], "description": "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.", "id": "MONDO:0043905", "name": "Pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["inflammation of lung parenchyma", "lung parenchyma inflammation", "pneumonitis"], "xref": ["EFO:1001991", "MEDGEN:811420", "NCIT:C113159", "SCTID:205237003", "UMLS:C3714636", "icd11.foundation:1324545867"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.", "id": "MONDO:0043919", "name": "Radiation pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["radiation pneumonitis"], "xref": ["GARD:0025873", "MESH:D017564", "SCTID:84004001", "icd11.foundation:1914397767"]}
{"category": ["biolink:Disease"], "description": "A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.", "id": "MONDO:0043923", "name": "Lichen planus, oral", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["oral lichen planus"], "xref": ["MEDGEN:60084", "MESH:D017676", "NCIT:C7406", "SCTID:235049008", "UMLS:C0206139"]}
{"category": ["biolink:Disease"], "description": "Infections with bacteria of the genus Burkholderia.", "id": "MONDO:0043953", "name": "Burkholderia infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Burkholderia caused disease or disorder", "Burkholderia disease or disorder", "Burkholderia infectious disease", "burkholderia infectious disease", "infection caused by Burkholderia"], "xref": ["MESH:D019121", "SCTID:721736003"]}
{"category": ["biolink:Disease"], "description": "A neoplastic process that resembles a malignant lymphoma, but has a benign course.", "id": "MONDO:0043959", "name": "Pseudolymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["pseudolymphoma"], "xref": ["EFO:1001831", "MEDGEN:67450", "MESH:D019310", "NCIT:C3825", "SCTID:19750001", "UMLS:C0221269"]}
{"category": ["biolink:Disease"], "description": "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.", "id": "MONDO:0043969", "name": "Nocturnal paroxysmal dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dystonia, hypnogenic paroxysmal", "dystonia, nocturnal paroxysmal", "dystonia, nocturnal, paroxysmal", "dystonia, sleep-related", "dystonias, hypnogenic paroxysmal", "dystonias, nocturnal paroxysmal", "dystonias, sleep-related", "hypnogenic paroxysmal dystonia", "hypnogenic paroxysmal dystonias", "nocturnal paroxysmal dystonias", "paroxysmal dystonia, hypnogenic", "paroxysmal dystonia, nocturnal", "paroxysmal dystonias, hypnogenic", "paroxysmal dystonias, nocturnal"], "xref": ["GARD:0027970", "MEDGEN:95991", "MESH:D020183", "SCTID:230500006", "UMLS:C0393777"]}
{"category": ["biolink:Disease"], "description": "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)", "id": "MONDO:0043975", "name": "Autonomic dysreflexia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["autonomic dysreflexia"], "xref": ["ICD10CM:G90.4", "MEDGEN:66758", "MESH:D020211", "SCTID:129618003", "UMLS:C0238015", "icd11.foundation:1401282234"]}
{"category": ["biolink:Disease"], "description": "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)", "id": "MONDO:0043982", "name": "Cubital tunnel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cubital tunnel syndrome"], "xref": ["GARD:0025874", "MEDGEN:104813", "MESH:D020430", "SCTID:56177003", "UMLS:C0206239"]}
{"category": ["biolink:Disease"], "description": "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.", "id": "MONDO:0043985", "name": "Central nervous system lupus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNS lupus", "central nervous system lupus"], "xref": ["GARD:0025875", "MEDGEN:156265", "MESH:D020945", "NCIT:C116919", "UMLS:C0752332"]}
{"category": ["biolink:Disease"], "description": "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.", "id": "MONDO:0043988", "name": "Zoster sine herpete", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["zoster sine herpete"], "xref": ["MEDGEN:253902", "MESH:D031368", "SCTID:449783002", "UMLS:C1135841"]}
{"category": ["biolink:Disease"], "description": "Acute inflammation of the gallbladder.", "id": "MONDO:0043994", "name": "Acute cholecystitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute cholecystitis"], "xref": ["ICD10CM:K81.0", "MEDGEN:57682", "MESH:D041881", "NCIT:C35152", "SCTID:65275009", "UMLS:C0149520", "icd11.foundation:2071113448"]}
{"category": ["biolink:Disease"], "description": "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.", "id": "MONDO:0044001", "name": "Hearing loss, mixed conductive-sensorineural", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["mixed conductive and sensorineural deafness", "mixed conductive and sensorineural hearing loss", "mixed hearing loss"], "xref": ["MEDGEN:102336", "MESH:D046089", "NCIT:C26974", "SCTID:77507001", "UMLS:C0155552"]}
{"category": ["biolink:Disease"], "description": "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.", "id": "MONDO:0044013", "name": "Puerperal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of puerperium", "puerperal disorder"], "xref": ["EFO:0009683", "MEDGEN:18758", "MESH:D011644", "SCTID:362973001", "UMLS:C0034040"]}
{"category": ["biolink:Disease"], "description": "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum", "id": "MONDO:0044014", "name": "Postpartum thyroiditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["postpartum thyroiditis"], "xref": ["EFO:1001403", "MEDGEN:78787", "MESH:D050032", "NCIT:C114389", "SCTID:52772002", "UMLS:C0271815", "icd11.foundation:1577113218"]}
{"category": ["biolink:Disease"], "description": "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.", "id": "MONDO:0044033", "name": "Posterior leukoencephalopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PRES", "Posterior reversible encephalopathy syndrome", "RPLE", "posterior reversible encephalopathy syndrome", "reversible Posterior cerebral edema syndrome", "reversible Posterior cerebral oedema syndrome", "reversible Posterior leukoencephalopathy syndrome", "reversible occipital parietal encephalopathy", "reversible posterior leukoencephalopathy syndrome"], "xref": ["ICD10CM:I67.83", "MEDGEN:163898", "MESH:D054038", "NCIT:C78598", "SCTID:450886002", "UMLS:C0878576"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.", "id": "MONDO:0044037", "name": "Livedo reticularis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["livedo reticularis"], "xref": ["GARD:0025876", "MEDGEN:43223", "MESH:D054068", "SCTID:238772004", "UMLS:C0085642"]}
{"category": ["biolink:Disease"], "description": "A fungal infection by any of the Candida species in a sterile body compartment.", "id": "MONDO:0044067", "name": "Candidiasis, invasive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["candidiases, invasive", "invasive candidiases", "invasive candidiasis"], "xref": ["GARD:0025877", "MEDGEN:296300", "MESH:D058365", "NCIT:C116813", "Orphanet:636945", "UMLS:C1609535"]}
{"category": ["biolink:Disease"], "description": "A form of invasive candidiasis where species of candida are present in the blood.", "id": "MONDO:0044070", "name": "Candidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["candidemia"], "xref": ["GARD:0025878", "MEDGEN:163760", "MESH:D058387", "SCTID:432261003", "UMLS:C0877445"]}
{"category": ["biolink:Disease"], "description": "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.", "id": "MONDO:0044079", "name": "Cardio-renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiorenal syndrome"], "xref": ["MEDGEN:453248", "MESH:D059347", "NCIT:C123225", "SCTID:445236007", "UMLS:C2242703"]}
{"category": ["biolink:Disease"], "description": "Opportunistic fungal infection by a member of Alternaria genus.", "id": "MONDO:0044083", "name": "Alternariosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cutaneous alternariosis"], "xref": ["MEDGEN:465430", "MESH:D060487", "SCTID:238436005", "UMLS:C3178962"]}
{"category": ["biolink:Disease"], "description": "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.", "id": "MONDO:0044092", "name": "Collagenous sprue", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["collagenous sprue", "non-gluten sensitive enteropathy syndrome"], "xref": ["MEDGEN:137953", "MESH:D064068", "NCIT:C45426", "SCTID:61738006", "UMLS:C0341299", "icd11.foundation:562877246"]}
{"category": ["biolink:Disease"], "description": "An abnormal pregnancy in which the conception is implanted on the ovary.", "id": "MONDO:0044098", "name": "Ovarian ectopic pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectopic pregnancy of ovary", "ovarian pregnancy", "ovary ectopic pregnancy"], "xref": ["MEDGEN:46073", "MESH:D065172", "NCIT:C92945", "SCTID:9899009", "UMLS:C0032991"]}
{"category": ["biolink:Disease"], "description": "An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.", "id": "MONDO:0044101", "name": "Pregnancy, cornual", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cornual pregnancy", "ectopic pregnancy of uterine horn", "uterine horn ectopic pregnancy"], "xref": ["MEDGEN:452359", "MESH:D065173", "NCIT:C92761", "SCTID:87605005", "UMLS:C0269286"]}
{"category": ["biolink:Disease"], "description": "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.", "id": "MONDO:0044113", "name": "Bullous systemic lupus erythematosus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BSLE", "bullous systemic lupus erythematosus"], "xref": ["GARD:0025879", "MEDGEN:592738", "NCIT:C117104", "Orphanet:46489", "SCTID:239889005", "UMLS:C0409977"]}
{"category": ["biolink:Disease"], "description": "Any disease affecting the vitreous body of the eye.", "id": "MONDO:0044137", "name": "Vitreous body disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vitreous body", "disease or disorder of vitreous body", "disorder of vitreous body", "vitreous body disease", "vitreous body disease or disorder", "vitreous body disorder"], "xref": ["EFO:0008624", "ICD9:379.29", "MEDGEN:56361", "NCIT:C45256", "SCTID:76682005", "UMLS:C0155365"]}
{"category": ["biolink:Disease"], "description": "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.", "id": "MONDO:0044138", "name": "Hyalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Vitreitis", "Vitritis", "hyalitis", "hyaloiditis", "vitritis"], "xref": ["GARD:0025880", "MEDGEN:68620", "NCIT:C50587", "SCTID:95802009", "UMLS:C0235812"]}
{"category": ["biolink:Disease"], "description": "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.", "id": "MONDO:0044141", "name": "Panic disorder without agoraphobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["panic disorder without agoraphobia"], "xref": ["MEDGEN:472968", "NCIT:C97193", "SCTID:56576003", "UMLS:C0236794"]}
{"category": ["biolink:Disease"], "description": "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.", "id": "MONDO:0044144", "name": "Panic disorder with agoraphobia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["panic disorder with agoraphobia"], "xref": ["ICD10CM:F40.01", "MEDGEN:472969", "NCIT:C97194", "SCTID:35607004", "UMLS:C0236800"]}
{"category": ["biolink:Disease"], "description": "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.", "id": "MONDO:0044200", "name": "T-b+ severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["T-B+ SCID", "T-cell negative B-cell positive SCID"], "xref": ["GARD:0021405", "MEDGEN:1842847", "Orphanet:317416", "UMLS:C5679894"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044201", "name": "T+ b+ severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["T+B+ SCID", "T-cell positive B-cell positive SCID"], "xref": ["MEDGEN:1842248", "Orphanet:397802", "UMLS:C5681156"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.", "id": "MONDO:0044202", "name": "Episodic kinesigenic dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["familial PKD", "familial paroxysmal kinesigenic dyskinesia", "paroxysmal kinesigenic choreathetosis"], "xref": ["GARD:0008721", "MEDGEN:358268", "OMIMPS:128200", "Orphanet:98809", "UMLS:C1868682"]}
{"category": ["biolink:Disease"], "description": "Underdevelopment of the fovea centralis.", "id": "MONDO:0044203", "name": "Foveal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:393047", "OMIMPS:136520", "UMLS:C2673946"]}
{"category": ["biolink:Disease"], "description": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.", "id": "MONDO:0044204", "name": "Shwachman-diamond syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SBDS-related Shwachman Diamond syndrome", "Shwachman-Diamond syndrome 1"], "xref": ["GARD:0015221", "MEDGEN:1640046", "OMIM:260400", "UMLS:C4692625"]}
{"category": ["biolink:Disease"], "description": "Any Shwachman-Diamond syndrome in which the cause of the disease is a variation on the EFL1 gene, characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia.", "id": "MONDO:0044205", "name": "Shwachman-diamond syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EFL1-related Shwachman-Diamond syndrome", "Shwachman-Diamond syndrome 2"], "xref": ["GARD:0016272", "MEDGEN:1634617", "OMIM:617941", "UMLS:C4693704"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044206", "name": "Otospondylomegaepiphyseal dysplasia, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["otospondylomegaepiphyseal dysplasia, autosomal recessive"], "xref": ["GARD:0025881", "OMIM:215150"]}
{"category": ["biolink:Disease"], "description": "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.", "id": "MONDO:0044207", "name": "Specific granule deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CEBPE specific granule deficiency", "specific granule deficiency 1", "specific granule deficiency caused by mutation in CEBPE"], "xref": ["GARD:0025882", "MEDGEN:1644049", "OMIM:245480", "UMLS:C4551556"]}
{"category": ["biolink:Disease"], "description": "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).", "id": "MONDO:0044208", "name": "Specific granule deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["specific granule deficiency 2"], "xref": ["GARD:0025883", "MEDGEN:1371952", "OMIM:617475", "UMLS:C4479548"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of complement activation, lectin pathway.", "id": "MONDO:0044209", "name": "Disorder of lectin complement activation pathway", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["complement activation, lectin pathway disease", "disorder of complement activation, lectin pathway"], "xref": ["GARD:0025884", "OMIMPS:614372"]}
{"category": ["biolink:Disease"], "description": "The inheritance of only one mutated beta-globin allele (beta+ or beta0).", "id": "MONDO:0044210", "name": "Thalassemia minor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["beta thalassemia trait"], "xref": ["DOID:0080774", "GARD:0025885", "ICD10CM:D56.3", "MEDGEN:450549", "MedDRA:10054662", "SCDO:0000114", "SCTID:19442009", "UMLS:C0869532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044211", "name": "Idiopathic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["ICD10CM:L50.1", "ICD9:708.1", "MEDGEN:510411", "SCTID:42265009", "UMLS:C0157741"]}
{"category": ["biolink:Disease"], "description": "Chronic form of idiopathic urticaria.", "id": "MONDO:0044212", "name": "Chronic idiopathic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["idiopathic urticaria, chronic"], "xref": ["DOID:0080749", "MEDGEN:662267", "SCTID:302162004", "UMLS:C0578870"]}
{"category": ["biolink:Disease"], "description": "Acute form of idiopathic urticaria.", "id": "MONDO:0044213", "name": "Acute idiopathic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute idiopathic urticaria", "idiopathic urticaria, acute"], "xref": ["MEDGEN:662266", "SCTID:302161006", "UMLS:C0578869"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044299", "name": "Myasthenic syndrome, congenital, 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["myasthenic syndrome, congenital, 22"], "xref": ["DOID:0080587", "GARD:0025886", "MEDGEN:1393545", "OMIM:616224", "UMLS:C4479088"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.", "id": "MONDO:0044300", "name": "Familial adenomatous polyposis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["FAP4", "MSH3-related AFAP", "MSH3-related attenuated FAP", "MSH3-related attenuated familial adenomatous polyposis", "MSH3-related attenuated familial polyposis coli", "familial adenomatous polyposis 4", "familial adenomatous polyposis type 4"], "xref": ["DOID:0080412", "GARD:0017868", "MEDGEN:934686", "OMIM:617100", "Orphanet:480536", "UMLS:C4310719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044302", "name": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome"], "xref": ["DOID:0112247", "GARD:0025887", "MEDGEN:1385307", "OMIM:617360", "Orphanet:646278", "UMLS:C4479246"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044303", "name": "Congenital heart defects and ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["congenital heart defects and ectodermal dysplasia"], "xref": ["MEDGEN:1387409", "OMIM:617364", "UMLS:C4479250"]}
{"category": ["biolink:Disease"], "description": "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).", "id": "MONDO:0044304", "name": "Hyperphenylalaninemia due to dnajc12 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["hyperphenylalaninemia due to DNAJC12 deficiency"], "xref": ["GARD:0017950", "MEDGEN:1391882", "OMIM:617384", "Orphanet:508523", "UMLS:C4479270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044305", "name": "Ectodermal dysplasia 13, hair/tooth type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ectodermal dysplasia 13, hair/tooth type"], "xref": ["DOID:0111650", "GARD:0025888", "MEDGEN:1387448", "OMIM:617392", "UMLS:C4479322"]}
{"category": ["biolink:Disease"], "description": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).", "id": "MONDO:0044306", "name": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"], "xref": ["GARD:0017930", "MEDGEN:1377894", "OMIM:617393", "Orphanet:500545", "UMLS:C4479333"]}
{"category": ["biolink:Disease"], "description": "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).", "id": "MONDO:0044308", "name": "Bardet-biedl syndrome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081010", "GARD:0016226", "MEDGEN:1374358", "OMIM:617406", "UMLS:C4319932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044309", "name": "Diamond-blackfan anemia 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan anemia 16"], "xref": ["DOID:0111893", "GARD:0016227", "MEDGEN:1385861", "OMIM:617408", "UMLS:C4479424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044310", "name": "Diamond-blackfan anemia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Diamond-Blackfan anemia 17"], "xref": ["DOID:0111880", "GARD:0016228", "MEDGEN:1373199", "OMIM:617409", "UMLS:C4479428"]}
{"category": ["biolink:Disease"], "description": "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).", "id": "MONDO:0044311", "name": "Brachycephaly, trichomegaly, and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["brachycephaly, trichomegaly, and developmental delay"], "xref": ["DOID:0070415", "MEDGEN:1374289", "OMIM:617412", "UMLS:C4479431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044312", "name": "Immunoskeletal dysplasia with neurodevelopmental abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025889", "MEDGEN:1381460", "OMIM:617425", "UMLS:C4479452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044313", "name": "Intellectual disability, autosomal recessive 60", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive 60"], "xref": ["DOID:0081222", "GARD:0025890", "MEDGEN:1373351", "OMIM:617432", "UMLS:C4479476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044314", "name": "Retinitis pigmentosa 78", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinitis pigmentosa 78"], "xref": ["DOID:0061113", "GARD:0016229", "MEDGEN:1378790", "OMIM:617433", "UMLS:C4479481"]}
{"category": ["biolink:Disease"], "description": "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).", "id": "MONDO:0044315", "name": "Craniosynostosis 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:susceptibility_mondo"], "synonym": ["craniosynostosis 7", "craniosynostosis 7, susceptibility to"], "xref": ["DOID:0060912", "MEDGEN:1392447", "OMIM:617439", "UMLS:C4479496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044316", "name": "Thrombocytopenia, anemia, and myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["thrombocytopenia, anemia, and myelofibrosis"], "xref": ["MEDGEN:1378448", "OMIM:617441", "UMLS:C4479504"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044317", "name": "Premature ovarian failure 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["premature ovarian failure 13"], "xref": ["DOID:0080870", "GARD:0025891", "MEDGEN:1393321", "OMIM:617442", "UMLS:C4479510"]}
{"category": ["biolink:Disease"], "description": "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).", "id": "MONDO:0044318", "name": "Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Jansen de Vries syndrome", "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"], "xref": ["GARD:0025892", "MEDGEN:1385744", "OMIM:617450", "Orphanet:653767", "UMLS:C4479517"]}
{"category": ["biolink:Disease"], "description": "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).", "id": "MONDO:0044319", "name": "Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"], "xref": ["GARD:0017942", "MEDGEN:1375601", "OMIM:617452", "Orphanet:505237", "UMLS:C4479520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044320", "name": "Retinitis pigmentosa 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinitis pigmentosa 79"], "xref": ["DOID:0061108", "GARD:0016231", "MEDGEN:1386200", "OMIM:617460", "UMLS:C4479526"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044321", "name": "Structural heart defects and renal anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["structural heart defects and renal anomalies syndrome"], "xref": ["GARD:0025893", "MEDGEN:1387412", "OMIM:617478", "Orphanet:689822", "UMLS:C4479549"]}
{"category": ["biolink:Disease"], "description": "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).", "id": "MONDO:0044322", "name": "Intellectual developmental disorder with neuropsychiatric features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intellectual developmental disorder with neuropsychiatric features"], "xref": ["MEDGEN:1379216", "OMIM:617532", "UMLS:C4479636"]}
{"category": ["biolink:Disease"], "description": "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).", "id": "MONDO:0044323", "name": "Rahman syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Rahman syndrome", "autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"], "xref": ["GARD:0013422", "MEDGEN:1388282", "OMIM:617537", "Orphanet:642763", "UMLS:C4479637"]}
{"category": ["biolink:Disease"], "description": "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).", "id": "MONDO:0044324", "name": "Al kaissi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025894", "MEDGEN:1611968", "OMIM:617694", "UMLS:C4540156"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044325", "name": "Fanconi anemia, complementation group w", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fanconi anemia, complementation group W"], "xref": ["DOID:0060978", "GARD:0025895", "MEDGEN:1621245", "OMIM:617784", "UMLS:C4521564"]}
{"category": ["biolink:Disease"], "description": "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).", "id": "MONDO:0044326", "name": "Developmental delay and seizures with or without movement abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["developmental delay and seizures with or without movement abnormalities"], "xref": ["DOID:0080473", "GARD:0016261", "MEDGEN:1641343", "OMIM:617836", "UMLS:C4693376"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.", "id": "MONDO:0044327", "name": "Polycystic liver disease 4 with or without kidney cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["polycystic liver disease 4 with or without kidney cysts"], "xref": ["DOID:0060977", "GARD:0025896", "MEDGEN:1644991", "OMIM:617875", "UMLS:C4693479"]}
{"category": ["biolink:Disease"], "description": "A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.", "id": "MONDO:0044328", "name": "Short-rib thoracic dysplasia 20 with polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["short-rib thoracic dysplasia 20 with polydactyly"], "xref": ["GARD:0025897", "MEDGEN:1634931", "OMIM:617925", "UMLS:C4693616"]}
{"category": ["biolink:Disease"], "description": "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).", "id": "MONDO:0044329", "name": "Osteogenesis imperfecta, type 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111848", "GARD:0025898", "MEDGEN:1635201", "OMIM:617952", "UMLS:C4693736"]}
{"category": ["biolink:Disease"], "description": "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).", "id": "MONDO:0044330", "name": "Hyperekplexia 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hyperekplexia 4"], "xref": ["DOID:0080581", "GARD:0016284", "MEDGEN:1642659", "OMIM:618011", "UMLS:C4693933"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044332", "name": "Childhood-onset benign chorea with striatal involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017906", "MEDGEN:1798886", "Orphanet:494541", "UMLS:C5567463"]}
{"category": ["biolink:Disease"], "description": "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.", "id": "MONDO:0044333", "name": "Alcohol-induced wernicke-korsakoff's syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["alcohol-induced Wernicke-Korsakoff's syndrome", "alcohol-induced amnestic syndrome", "alcoholic Korsakoff's psychosis"], "xref": ["GARD:0027971", "MEDGEN:312391", "NCIT:C34366", "UMLS:C1704427"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.", "id": "MONDO:0044334", "name": "Connective and soft tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["connective and soft tissue neoplasm", "connective and soft tissue tumor", "connective and soft tissue tumour", "musculoskeletal and soft tissue neoplasm", "musculoskeletal and soft tissue tumor", "musculoskeletal and soft tissue tumour", "neoplasm of skeletal and soft tissue", "neoplasm of soft tissue and bone", "neoplasm of soft tissue and skeleton", "skeletal and soft tissue neoplasm", "skeletal and soft tissue tumor", "skeletal and soft tissue tumour", "soft tissue and bone neoplasm", "soft tissue and bone tumor", "soft tissue and bone tumour", "tumor of skeletal and soft tissue", "tumor of soft tissue and bone", "tumor of soft tissue and skeleton", "tumour of skeletal and soft tissue", "tumour of soft tissue and bone", "tumour of soft tissue and skeleton"], "xref": ["MEDGEN:60224", "NCIT:C3810", "UMLS:C0206765"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing neoplasm that arises from the soft tissue.", "id": "MONDO:0044335", "name": "Benign soft tissue neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign neoplasm of soft tissue", "benign neoplasm of the soft tissue", "benign soft tissue neoplasm", "benign soft tissue tumor", "benign soft tissue tumour", "benign tumor of soft tissue", "benign tumor of the soft tissue", "benign tumour of soft tissue", "benign tumour of the soft tissue", "soft tissue neoplasm, benign"], "xref": ["ICDO:8800/0", "MEDGEN:83151", "NCIT:C4242", "SCTID:92069005", "UMLS:C0334450"]}
{"category": ["biolink:Disease"], "description": "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.", "id": "MONDO:0044336", "name": "Colorectal signet ring cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["colorectal signet Ring cell carcinoma"], "xref": ["MEDGEN:313040", "NCIT:C43586", "UMLS:C1707440"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.", "id": "MONDO:0044337", "name": "Stromal sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["stromal sarcoma", "stromal sarcoma, malignant", "stromal tumor, malignant"], "xref": ["GARD:0025899", "ICDO:8935/3", "MEDGEN:235091", "NCIT:C6926", "UMLS:C1370723"]}
{"category": ["biolink:Disease"], "description": "An autoimmune form of primary ovarian failure.", "id": "MONDO:0044338", "name": "Autoimmune primary ovarian failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["primary ovarian failure arising through autoimmunity"], "xref": ["ICD9:256.39", "ICD9:279.49", "MEDGEN:575071", "SCTID:237790001", "UMLS:C0342508"]}
{"category": ["biolink:Disease"], "description": "Any degenerative disorder affecting one or more vertebral disks of the lumbar spine.", "id": "MONDO:0044339", "name": "Lumbar disk degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["degeneration of lumbar intervertebral disc", "degeneration of lumbar intervertebral disk", "intervertebral disc degenerative disorder of lumbar region of vertebral column", "intervertebral disc disease, susceptibility to", "intervertebral disk degenerative disorder of lumbar region of vertebral column", "intervertebral disk disease, susceptibility to", "lumbar Disc Degeneration", "lumbar Disc degenerative disease", "lumbar Disc degenerative disorder", "lumbar disc disease, susceptibility to", "lumbar disk disease, susceptibility to", "lumbar region of vertebral column intervertebral disc degenerative disorder", "lumbar region of vertebral column intervertebral disk degenerative disorder"], "xref": ["MEDGEN:57852", "MESH:C535531", "NCIT:C27154", "SCTID:26538006", "UMLS:C0158252"]}
{"category": ["biolink:Disease"], "description": "Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.", "id": "MONDO:0044342", "name": "Thoracic disk degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["degeneration of thoracic intervertebral disc", "degeneration of thoracic intervertebral disk", "intervertebral disc degenerative disorder of thoracic region of vertebral column", "intervertebral disk degenerative disorder of thoracic region of vertebral column", "thoracic Disc Degeneration", "thoracic Disc degenerative disease", "thoracic Disc degenerative disorder", "thoracic region of vertebral column intervertebral disc degenerative disorder", "thoracic region of vertebral column intervertebral disk degenerative disorder"], "xref": ["MEDGEN:120491", "NCIT:C27155", "SCTID:68675004", "UMLS:C0263872"]}
{"category": ["biolink:Disease"], "description": "Any degenerative disorder affecting one or more vertebral disks of the cervical spine.", "id": "MONDO:0044343", "name": "Cervical disk degenerative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cervical Disc Degeneration", "cervical Disc degenerative disease", "cervical Disc degenerative disorder", "cervical region of vertebral column intervertebral disc degenerative disorder", "cervical region of vertebral column intervertebral disk degenerative disorder", "degeneration of cervical intervertebral disc", "degeneration of cervical intervertebral disk", "intervertebral disc degenerative disorder of cervical region of vertebral column", "intervertebral disk degenerative disorder of cervical region of vertebral column"], "xref": ["EFO:0009537", "MEDGEN:96081", "NCIT:C27156", "SCTID:69195002", "UMLS:C0410606"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Schistosoma japonicum.", "id": "MONDO:0044344", "name": "Schistosoma japonicum infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schistosoma japonicum caused disease or disorder", "Schistosoma japonicum disease or disorder", "Schistosoma japonicum infection"], "xref": ["GARD:0025900", "MESH:D012554", "NCIT:C35001", "SCTID:268058007"]}
{"category": ["biolink:Disease"], "description": "An infection that is caused by Schistosoma mansoni.", "id": "MONDO:0044345", "name": "Schistosoma mansoni infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Schistosoma mansoni caused disease or disorder", "Schistosoma mansoni disease or disorder", "Schistosoma mansoni infection"], "xref": ["GARD:0025901", "MESH:D012555", "NCIT:C35002", "SCTID:750009"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Echinococcus granulosus.", "id": "MONDO:0044346", "name": "Echinococcus granulosus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Echinococcus granulosus caused disease or disorder", "Echinococcus granulosus disease or disorder", "Echinococcus granulosus infectious disease", "echinococcus granulosus infection", "echinococcus granulosus infectious disease"], "xref": ["ICD9:122.3", "ICD9:122.4", "MEDGEN:508866", "SCTID:75006000", "UMLS:C0152068"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the erythrocyte.", "id": "MONDO:0044347", "name": "Erythrocyte disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of erythrocyte", "disease or disorder of erythrocyte", "disorder of erythrocyte", "erythrocyte disease", "erythrocyte disease or disorder", "red blood cell disease", "red blood cell disorder"], "xref": ["ICD9:289.9", "MEDGEN:526127", "SCTID:38292009", "UMLS:C0221016"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044348", "name": "Hemoglobinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hemoglobinopathy"], "xref": ["ICD9:282.7", "MEDGEN:42400", "SCTID:80141007", "UMLS:C0019045"]}
{"category": ["biolink:Disease"], "description": "An instance of hemoglobinopathy that is acquired during the lifetime of the individual.", "id": "MONDO:0044349", "name": "Acquired hemoglobinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired hemoglobinopathy"], "xref": ["GARD:0025903", "MEDGEN:688237", "SCTID:127039000", "UMLS:C1263995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044350", "name": "Hyperparathyroidism, primary, caused by water clear cell hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hyperparathyroidism, primary, caused by water clear cell hyperplasia"], "xref": ["GARD:0018254", "MEDGEN:325036", "MESH:C563982", "OMIM:600166", "UMLS:C1838501"]}
{"category": ["biolink:Disease"], "description": "An disease or disorder caused by infection with Schistosoma intercalatum.", "id": "MONDO:0044351", "name": "Schistosoma intercalatum infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Schistosoma intercalatum caused disease or disorder", "Schistosoma intercalatum disease or disorder", "infection by Schistosoma intercalatum"], "xref": ["GARD:0025904", "ICD9:120.8", "MEDGEN:124448", "NCIT:C35364", "SCTID:52179003", "UMLS:C0276932"]}
{"category": ["biolink:Disease"], "description": "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.", "id": "MONDO:0044355", "name": "Isolated sternocostoclavicular hyperostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["isolated SCCH"], "xref": ["GARD:0020144", "MEDGEN:1640582", "Orphanet:178311", "SCTID:766711009", "UMLS:C4707796"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044406", "name": "Arthrogryposis-ectodermal dysplasia-other anomalies syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Stoll-Alembik-Finck syndrome"], "xref": ["GARD:0005029", "MEDGEN:1674099", "Orphanet:3200", "UMLS:C5191837"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044617", "name": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021990", "MEDGEN:1798943", "Orphanet:482606", "UMLS:C5567520"]}
{"category": ["biolink:Disease"], "description": "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).", "id": "MONDO:0044619", "name": "Propylthiouracil embryofetopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PTU embryofetopathy", "PTU embryopathy", "propylthiouracil embryopathy"], "xref": ["MEDGEN:1798942", "Orphanet:485358", "UMLS:C5567519"]}
{"category": ["biolink:Disease"], "description": "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.", "id": "MONDO:0044621", "name": "16p12.1p12.3 triplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["tetrasomy 16p12.1-p12.3", "tetrasomy 16p12.1p12.3", "trip(16)(p12.1p12.3)"], "xref": ["GARD:0021993", "MEDGEN:1814451", "Orphanet:485405", "UMLS:C5680097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044622", "name": "Emilin-1-related connective tissue disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0021994", "MEDGEN:1814474", "Orphanet:485418", "UMLS:C5681244"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044624", "name": "Pediatric collagenous gastritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["childhood-onset collagenous gastritis"], "xref": ["GARD:0021998", "MEDGEN:1805938", "Orphanet:487809", "UMLS:C5680109"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044625", "name": "Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMT2 due to DGAT2 mutation"], "xref": ["GARD:0021999", "MEDGEN:1798938", "Orphanet:487814", "UMLS:C5567515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044626", "name": "Female infertility due to oocyte meiotic arrest", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017887", "MEDGEN:1798912", "Orphanet:488191", "UMLS:C5567489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044627", "name": "Acute macular neuroretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AMNR"], "xref": ["GARD:0022000", "MEDGEN:1678428", "Orphanet:488239", "UMLS:C5200735", "icd11.foundation:1081365759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044628", "name": "Six2-related frontonasal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SIX2-related FND"], "xref": ["GARD:0022001", "MEDGEN:1798907", "Orphanet:488437", "UMLS:C5567484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044629", "name": "Congenital amyoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["amyoplasia congenita"], "xref": ["GARD:0022002", "MEDGEN:678346", "Orphanet:488586", "UMLS:C0812412"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044631", "name": "Early-onset familial noncirrhotic portal hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["Orphanet:494348"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044632", "name": "Extracranial carotid artery aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ECAA", "ECCA", "Ecca"], "xref": ["GARD:0022003", "MEDGEN:1393749", "Orphanet:494424", "UMLS:C4476554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044633", "name": "Idiopathic pleuroparenchymal fibroelastosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IPPFE", "idiopathic pleuropulmonary fibroelastosis"], "xref": ["GARD:0022004", "MEDGEN:1798890", "Orphanet:494428", "UMLS:C5567467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044634", "name": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome", "short stature, hearing loss, retinitis pigmentosa, and distinctive facies"], "xref": ["DOID:0081175", "GARD:0017903", "MEDGEN:1615526", "OMIM:617763", "Orphanet:494439", "UMLS:C4540367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044635", "name": "Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"], "xref": ["GARD:0017904", "MEDGEN:1798888", "Orphanet:494444", "UMLS:C5567465"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044637", "name": "Infantile-onset generalized dyskinesia with orofacial involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IOLOD", "dyskinesia, limb and orofacial, infantile-onset", "infantile-onset orofacial-trunk-limbs dyskinesia"], "xref": ["GARD:0017905", "MEDGEN:1798887", "OMIM:616921", "Orphanet:494526", "UMLS:C5567464"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the hypopharynx.", "id": "MONDO:0044638", "name": "Hypopharynx squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of hypopharynx", "epidermoid carcinoma of the hypopharynx", "hypopharyngeal epidermoid carcinoma", "hypopharyngeal squamous cell carcinoma", "hypopharyngeal throat squamous cell cancer", "squamous cell carcinoma of hypopharynx"], "xref": ["EFO:1001960", "GARD:0017907", "MEDGEN:79102", "NCIT:C4043", "ONCOTREE:HPHSC", "Orphanet:494547", "UMLS:C0280321", "icd11.foundation:680629191"]}
{"category": ["biolink:Disease"], "description": "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "id": "MONDO:0044640", "name": "Charcot-marie-tooth disease type 2t", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AR-CMT2T", "CMT2T", "Charcot-Marie-Tooth disease, axonal, type 2T", "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T"], "xref": ["DOID:0110160", "GARD:0017909", "OMIM:617017", "Orphanet:495274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044641", "name": "9q33.3q34.11 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["9q33.3-q34.11 microdeletion syndrome", "Del(9)(q33.3q34.11)", "deletion 9q33.3q34.11", "monosomy 9q33.3-q34.11", "monosomy 9q33.3q34.11"], "xref": ["GARD:0022009", "MEDGEN:1811810", "Orphanet:495818", "UMLS:C5680085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044642", "name": "C11orf73-related autosomal recessive hypomyelinating leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy", "hypomyelinating leukodystrophy due to hikeshi deficiency"], "xref": ["GARD:0017910", "MEDGEN:1798879", "Orphanet:495844", "UMLS:C5567456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044643", "name": "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"], "xref": ["GARD:0022010", "MEDGEN:1798878", "Orphanet:495875", "UMLS:C5567455"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044644", "name": "Congenital agenesis of the scrotum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["congenital absence of the scrotum", "congenital scrotal absence", "congenital scrotal agenesis"], "xref": ["GARD:0022011", "MEDGEN:1669923", "Orphanet:495879", "UMLS:C1387020"]}
{"category": ["biolink:Disease"], "description": "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.", "id": "MONDO:0044645", "name": "Familial monosomy 7 syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["monosomy 7 myelodysplasia and leukaemia syndrome", "monosomy 7 myelodysplasia and leukemia syndrome"], "xref": ["GARD:0020827", "MEDGEN:1826116", "OMIMPS:252270", "Orphanet:495930", "UMLS:C5681220"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044646", "name": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PEBAT", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"], "xref": ["DOID:0070423", "GARD:0017911", "MEDGEN:1798877", "OMIM:617193", "Orphanet:496641", "UMLS:C5567454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044647", "name": "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017912", "MEDGEN:1798876", "Orphanet:496686", "UMLS:C5567453"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044648", "name": "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["kyphoscoliosis-lateral tongue atrophy-HSP syndrome"], "xref": ["GARD:0022012", "MEDGEN:1798875", "Orphanet:496689", "UMLS:C5567452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044649", "name": "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Gershoni-Baruch syndrome"], "xref": ["GARD:0010354", "Orphanet:496693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044651", "name": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017914", "MEDGEN:1798874", "Orphanet:496756", "UMLS:C5567451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044656", "name": "Epidermolytic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Epidermal nevus with epidermolytic hyperkeratosis", "epidermolytic epidermal nevus", "epidermolytic verrucous epidermal nevus"], "xref": ["GARD:0022016", "MEDGEN:724389", "Orphanet:497737", "SCTID:400142003", "UMLS:C1302848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044657", "name": "Mme-related autosomal dominant charcot marie tooth disease type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MME-related autosomal dominant CMT2", "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"], "xref": ["GARD:0017916", "MEDGEN:1798873", "Orphanet:497757", "UMLS:C5567450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044660", "name": "Menstrual cycle-dependent periodic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["luteal-phase-dependent febrile episode", "luteal-phase-dependent periodic fever", "menstrual cycle-dependent febrile episode", "periodic fever, menstrual cycle dependent", "periodic fever, menstrual cycle-dependent"], "xref": ["GARD:0022017", "MEDGEN:766332", "OMIM:614674", "Orphanet:498251", "UMLS:C3553418"]}
{"category": ["biolink:Disease"], "description": "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.", "id": "MONDO:0044663", "name": "Aquagenic palmoplantar keratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["aquagenic keratoderma", "aquagenic palmoplantar keratoderma", "aquagenic syringeal acrokeratoderma", "aquagenic wrinkling of the palms", "transient reactive papulotranslucent acrokeratoderma"], "xref": ["GARD:0012991", "MEDGEN:1789947", "Orphanet:498359", "UMLS:C4087301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044675", "name": "Lrp5-related primary osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022031", "MEDGEN:1798664", "Orphanet:498481", "UMLS:C5567241"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044682", "name": "Mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MYBPC1-related autosomal recessive non-lethal AMC syndrome"], "xref": ["GARD:0022035", "MEDGEN:1814448", "Orphanet:498693", "UMLS:C5680092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044685", "name": "Autoimmune/inflammatory optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022037", "MEDGEN:1842963", "Orphanet:499047", "UMLS:C5681239"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.", "id": "MONDO:0044687", "name": "Chronic relapsing inflammatory optic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["CRION", "chronic recurrent isolated optic neuritis"], "xref": ["GARD:0022038", "MEDGEN:1798657", "Orphanet:499085", "UMLS:C5567234"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.", "id": "MONDO:0044688", "name": "Isolated optic neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ION", "ion"], "xref": ["GARD:0022039", "MEDGEN:1864429", "Orphanet:499096", "UMLS:C5848152"]}
{"category": ["biolink:Disease"], "description": "A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.", "id": "MONDO:0044689", "name": "Recurrent idiopathic neuroretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["RINR"], "xref": ["GARD:0022040", "MEDGEN:1814450", "Orphanet:499103", "UMLS:C5680094"]}
{"category": ["biolink:Disease"], "description": "A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.", "id": "MONDO:0044690", "name": "Optic perineuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OPN"], "xref": ["GARD:0022041", "MEDGEN:881493", "Orphanet:499107", "SCTID:713417000", "UMLS:C4076165", "icd11.foundation:349248275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044696", "name": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0017923", "MEDGEN:1798652", "OMIM:617669", "Orphanet:500144", "UMLS:C5567229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044699", "name": "Sin3a-related intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022043", "Orphanet:500163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044700", "name": "Sin3a-related intellectual disability syndrome due to a point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_etiological_subtype", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0017925", "MEDGEN:934771", "Orphanet:500166", "UMLS:C4310804"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044701", "name": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["UBTF-related disorder"], "xref": ["DOID:0070474", "GARD:0013658", "MEDGEN:1626007", "OMIM:617672", "Orphanet:500180", "UMLS:C4540086"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044702", "name": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DFNX7", "deafness, X-linked 7"], "xref": ["DOID:0111738", "GARD:0017926", "MEDGEN:1648389", "OMIM:301018", "Orphanet:500188", "UMLS:C4746975"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that involves the oropharynx.", "id": "MONDO:0044704", "name": "Oropharynx squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of oropharynx", "epidermoid carcinoma of the oropharynx", "oropharyngeal epidermoid carcinoma", "oropharyngeal squamous cell carcinoma", "oropharyngeal throat squamous cell cancer", "squamous cell carcinoma of oropharynx"], "xref": ["DOID:0070664", "GARD:0017928", "MEDGEN:76094", "NCIT:C8181", "ONCOTREE:OPHSC", "Orphanet:500478", "UMLS:C0280313", "icd11.foundation:839740136"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.", "id": "MONDO:0044705", "name": "Paranasal sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["epidermoid carcinoma of paranasal sinus", "epidermoid carcinoma of the paranasal sinus", "paranasal sinus epidermoid carcinoma", "paranasal sinus squamous cell carcinoma", "squamous cell carcinoma of paranasal sinus", "squamous cell carcinoma of the nasal cavity and sinuses", "squamous cell carcinoma of the paranasal sinus"], "xref": ["DOID:2442", "GARD:0017927", "MEDGEN:79105", "NCIT:C8193", "Orphanet:500464", "UMLS:C0280334"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044709", "name": "Cochleovestibular dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022044", "MEDGEN:1818562", "Orphanet:502305", "UMLS:C5761642"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.", "id": "MONDO:0044710", "name": "Lip and oral cavity squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["lip and oral cavity squamous cell cancer", "lip and oral cavity squamous cell carcinoma", "lip/oral cavity squam. cell car."], "xref": ["GARD:0022046", "MEDGEN:124714", "NCIT:C42690", "Orphanet:502369", "UMLS:C0280297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044714", "name": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"], "xref": ["GARD:0017934", "MEDGEN:1620960", "OMIM:617675", "Orphanet:502423", "UMLS:C4540096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044717", "name": "4q25 proximal deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["proximal del(4)(q25)", "proximal monosomy 4q25"], "xref": ["GARD:0022048", "MEDGEN:1814447", "Orphanet:502437", "UMLS:C5680087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044718", "name": "Alkaline ceramidase 3 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ACER3-related early childhood-onset progressive leukodystrophy", "leukodystrophy due to alkaline ceramidase 3 deficiency"], "xref": ["GARD:0017936", "MEDGEN:1622324", "OMIM:617762", "Orphanet:502444", "UMLS:C4540358"]}
{"category": ["biolink:Disease"], "description": "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.", "id": "MONDO:0044719", "name": "Erythema multiforme major", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["erythema exsudativum multiforme majus", "erythema multiforme majus"], "xref": ["GARD:0022049", "MEDGEN:469028", "NCIT:C3385", "Orphanet:502499", "UMLS:C3241919"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.", "id": "MONDO:0044720", "name": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CABV syndrome", "CANVAS", "HSAN with cough and gastroesophageal reflux", "HSAN1B", "HSN1B", "cerebellar ataxia with bilateral vestibulopathy syndrome", "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome", "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux", "hereditary sensory and autonomic neuropathy type 1B", "hereditary sensory and autonomic neuropathy type IB", "hereditary sensory neuropathy type IB", "neuropathy, hereditary sensory and autonomic, type 1B", "neuropathy, hereditary sensory, type IB"], "xref": ["DOID:0070148", "GARD:0017937", "MEDGEN:482853", "MESH:C564296", "OMIM:608088", "OMIM:614575", "Orphanet:139564", "Orphanet:504476", "SCTID:717825008", "UMLS:C3281223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044721", "name": "Severe combined immunodeficiency due to lat deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCID due to LAT deficiency"], "xref": ["DOID:0111983", "GARD:0017938", "MEDGEN:1384124", "OMIM:617514", "Orphanet:504523", "UMLS:C4479588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044723", "name": "3-methylglutaconic aciduria type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria, type VIII", "MGA8", "MGCA8"], "xref": ["DOID:0070000", "GARD:0022050", "MEDGEN:934617", "OMIM:617248", "Orphanet:505208", "UMLS:C4310650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044724", "name": "3-methylglutaconic aciduria type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome", "MGA9"], "xref": ["DOID:0070002", "GARD:0017940", "MEDGEN:1622927", "OMIM:617698", "Orphanet:505216", "UMLS:C4540171"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044725", "name": "Combined immunodeficiency due to gins1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CID due to GINS1 deficiency", "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia", "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"], "xref": ["DOID:0111993", "GARD:0017941", "MEDGEN:1799555", "OMIM:617827", "Orphanet:505227", "UMLS:C5568132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044726", "name": "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cerebrorenal syndrome, Perez type"], "xref": ["GARD:0017943", "MEDGEN:1621949", "OMIM:617595", "Orphanet:505242", "UMLS:C4539828"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.", "id": "MONDO:0044727", "name": "Pancreatic carcinoma with mixed differentiation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MiNEN of pancreas", "mixed exocrine-endocrine carcinoma of the pancreas", "pancreatic MiNEN", "pancreatic carcinoma with mixed differentiation", "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm"], "xref": ["GARD:0022057", "MEDGEN:353935", "NCIT:C45843", "Orphanet:506112", "UMLS:C1709050"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044737", "name": "Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["autosomal recessive complex SPG due to Kennedy pathway dysfunction"], "xref": ["DOID:0112349", "GARD:0017946", "MEDGEN:1799999", "Orphanet:506353", "UMLS:C5568576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044738", "name": "Gabriele de vries syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["YY1 haploinsufficiency syndrome"], "xref": ["GARD:0017947", "MEDGEN:1375401", "OMIM:617557", "Orphanet:506358", "UMLS:C4479652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044739", "name": "Stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["SJS/TEN overlap syndrome", "Stevens-Johnson/TEN overlap syndrome", "Stevens-Johnson/toxic epidermal necrolysis overlap syndrome"], "xref": ["GARD:0022066", "MEDGEN:783034", "Orphanet:506784", "UMLS:C3661878", "icd11.foundation:496418968"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.", "id": "MONDO:0044740", "name": "Salivary gland squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_histopathological_subtype", "mondo:otar", "mondo:rare"], "synonym": ["SCC of salivary gland", "SCC of the salivary gland", "epidermoid carcinoma of salivary gland", "epidermoid carcinoma of the salivary gland", "saliva-secreting gland squamous cell carcinoma", "salivary gland SCC", "salivary gland epidermoid carcinoma", "salivary gland squamous cell cancer", "salivary gland squamous cell carcinoma", "squamous cell carcinoma of salivary gland", "squamous cell carcinoma of the salivary gland"], "xref": ["EFO:1001967", "GARD:0017929", "MEDGEN:83545", "NCIT:C7991", "Orphanet:500481", "UMLS:C0279697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044742", "name": "Autosomal recessive epidermolytic ichthyosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AREI"], "xref": ["GARD:0022074", "MEDGEN:1725198", "NANDO:1200612", "NANDO:2200989", "Orphanet:512103", "UMLS:C5437635", "icd11.foundation:244597687"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.", "id": "MONDO:0044743", "name": "Major salivary gland cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cancer of major salivary gland", "malignant major salivary gland neoplasm", "malignant major salivary gland tumor", "malignant major salivary gland tumour", "malignant neoplasm of major salivary gland", "malignant neoplasm of the major salivary gland", "malignant tumor of major salivary gland", "malignant tumor of the major salivary gland", "malignant tumour of major salivary gland", "malignant tumour of the major salivary gland"], "xref": ["GARD:0027972", "MEDGEN:96919", "NCIT:C4762", "SCTID:363378008", "UMLS:C0496763"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.", "id": "MONDO:0044744", "name": "Prekallikrein deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["prekallikrein deficiency"], "xref": ["GARD:0025905", "MEDGEN:75779", "NANDO:2200684", "NCIT:C99022", "SCTID:48976006", "UMLS:C0272339"]}
{"category": ["biolink:Disease"], "description": "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.", "id": "MONDO:0044745", "name": "Nervous system injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["injury of nervous system", "nervous system injury"], "xref": ["EFO:0009490", "MESH:D020196", "SCTID:128239009"]}
{"category": ["biolink:Disease"], "description": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.", "id": "MONDO:0044749", "name": "X-linked congenital stationary night blindness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["X-linked CSNB", "XLCSNB", "congenital stationary night blindness, X-linked"], "xref": ["GARD:0003995"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044750", "name": "Lassa virus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Lassa virus infection", "infection caused by Lassa virus"], "xref": ["MEDGEN:923253", "SCTID:721779001", "UMLS:C1617072"]}
{"category": ["biolink:Disease"], "description": "Chronic form of diarrheal disease.", "id": "MONDO:0044751", "name": "Chronic diarrheal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chronic diarrhea", "chronic diarrhoea", "diarrheal disease, chronic"], "xref": ["MEDGEN:96036", "SCTID:236071009", "UMLS:C0401151"]}
{"category": ["biolink:Disease"], "description": "A spinal stenosis that involves the lumbar region of vertebral column.", "id": "MONDO:0044753", "name": "Lumbar spinal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lumbar region of vertebral column spinal stenosis", "lumbar spinal stenosis", "spinal stenosis of lumbar region", "spinal stenosis of lumbar region of vertebral column"], "xref": ["HP:0004610", "ICD9:724.02", "MEDGEN:488791", "NCIT:C177445", "SCTID:18347007", "UMLS:C0158288"]}
{"category": ["biolink:Disease"], "description": "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.", "id": "MONDO:0044762", "name": "Diarrheal disease secondary to increased bowel motility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["diarrhea from increased bowel motility", "diarrhoea from increased bowel motility"], "xref": ["DOID:0050131"]}
{"category": ["biolink:Disease"], "description": "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.", "id": "MONDO:0044763", "name": "Diarrheal disease secondary to decreased bowel motility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["diarrhea from decreased bowel motility", "diarrhoea from decreased bowel motility"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044764", "name": "Benign choroid plexus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign choroid plexus neoplasm", "benign choroid plexus neoplasms", "benign choroid plexus tumor", "benign choroid plexus tumors", "benign choroid plexus tumour", "benign choroid plexus tumours", "benign neoplasm of choroid plexus", "benign neoplasm of the choroid plexus", "benign tumor of choroid plexus", "benign tumor of the choroid plexus", "benign tumour of choroid plexus", "benign tumour of the choroid plexus"], "xref": ["GARD:0025906", "MEDGEN:87549", "NCIT:C8405", "SCTID:254943007", "UMLS:C0346290", "icd11.foundation:1168753028"]}
{"category": ["biolink:Disease"], "description": "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.", "id": "MONDO:0044765", "name": "Steroid-resistant nephrotic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nephrotic syndrome of childhood - steroid resistant", "nephrotic syndrome-steroid-resistant", "steroid-resistant nephrotic syndrome"], "xref": ["GARD:0027973", "GTR:AN0096391", "GTR:AN0096395", "GTR:AN0200342", "GTR:AN0255485", "MEDGEN:588369", "NCIT:C122798", "SCTID:236381000", "UMLS:C0403397"]}
{"category": ["biolink:Disease"], "description": "A rare pheochromocytoma of the adrenal gland that occurs during childhood.", "id": "MONDO:0044767", "name": "Childhood adrenal gland pheochromocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood adrenal gland pheochromocytoma"], "xref": ["DOID:0070325", "GARD:0025907", "GTR:AN0102113", "MEDGEN:859271", "NCIT:C118822", "UMLS:C3899677"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.", "id": "MONDO:0044768", "name": "Vagus nerve paraganglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["paraganglioma of the vagal body", "paraganglioma of the vagus nerve", "paraganglioma of vagal body", "paraganglioma of vagus nerve", "vagal body paraganglioma", "vagal paraganglioma", "vagus nerve paraganglioma"], "xref": ["GARD:0008620", "MEDGEN:141635", "NCIT:C8427", "SCTID:253030004", "UMLS:C0474819"]}
{"category": ["biolink:Disease"], "description": "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).", "id": "MONDO:0044776", "name": "Premature ovarian failure 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["premature ovarian failure 10"], "xref": ["DOID:0080867", "GARD:0025908", "MEDGEN:898849", "OMIM:612885", "UMLS:C4225402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044777", "name": "Premature ovarian failure 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["premature ovarian failure 14"], "xref": ["DOID:0080871", "GARD:0025909", "GTR:AN1172965", "MEDGEN:1646133", "OMIM:618014", "UMLS:C4693941"]}
{"category": ["biolink:Disease"], "description": "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)", "id": "MONDO:0044778", "name": "Nodular lymphocyte predominant hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hodgkin lymphoma nodular LP, NOS", "Hodgkin lymphoma nodular lymphocyte predominant type, NOS", "NLPHL", "nodular lymphocyte predominant Hodgkin lymphoma", "nodular lymphocyte predominant Hodgkin's lymphoma", "nodular lymphocyte-predominant Hodgkin lymphoma"], "xref": ["GARD:0019079", "ICD10CM:C81.0", "MEDGEN:233758", "NANDO:1201067", "NCIT:C7258", "ONCOTREE:NLPHL", "Orphanet:86893", "UMLS:C1334968", "icd11.foundation:331115338"]}
{"category": ["biolink:Disease"], "description": "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.", "id": "MONDO:0044781", "name": "Nephrotic syndrome of childhood - steroid sensitive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["nephrotic syndrome of childhood - steroid sensitive", "steroid-responsive nephrotic syndrome", "steroid-sensitive nephrotic syndrome"], "xref": ["GARD:0027974", "MEDGEN:588368", "NCIT:C122797", "SCTID:236380004", "UMLS:C0403396"]}
{"category": ["biolink:Disease"], "description": "An ulcerated lesion in the esophageal wall.", "id": "MONDO:0044782", "name": "Esophageal ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["esophageal ulcer", "esophagus ulcer", "esophagus ulcer disease", "oesophagus ulcer", "oesophagus ulcer disease", "ulcer disease of esophagus", "ulcer disease of oesophagus"], "xref": ["HP:0004791", "MEDGEN:56254", "NCIT:C26950", "UMLS:C0151970"]}
{"category": ["biolink:Disease"], "description": "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.", "id": "MONDO:0044783", "name": "Solid papillary breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["solid Papillary breast carcinoma", "solid Papillary carcinoma of the breast"], "xref": ["MEDGEN:236831", "NCIT:C6870", "ONCOTREE:SPC", "UMLS:C1336027"]}
{"category": ["biolink:Disease"], "description": "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.", "id": "MONDO:0044784", "name": "Myxoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MYXOMA, BENIGN", "Myxoma"], "xref": ["MEDGEN:10160", "MESH:D009232", "NCIT:C6577", "ONCOTREE:MYXO", "SCTID:404082003", "UMLS:C0027149"]}
{"category": ["biolink:Disease"], "description": "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.", "id": "MONDO:0044785", "name": "Desmoplastic melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["desmoplastic cutaneous (skin) melanoma", "desmoplastic melanoma"], "xref": ["MEDGEN:232127", "NCIT:C37257", "ONCOTREE:DESM", "UMLS:C1333280"]}
{"category": ["biolink:Disease"], "description": "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.", "id": "MONDO:0044786", "name": "Solid pseudopapillary neoplasm of the pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Frantz tumor", "Frantz tumour", "solid pseudopapillary neoplasm of the pancreas", "solid pseudopapillary tumor of the pancreas", "solid pseudopapillary tumour of the pancreas"], "xref": ["GARD:0027975", "MEDGEN:234800", "NCIT:C37212", "ONCOTREE:SPN", "UMLS:C1336030"]}
{"category": ["biolink:Disease"], "description": "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.", "id": "MONDO:0044787", "name": "Nasal cavity and paranasal sinus squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["nasal cavity and paranasal sinus squamous cell cancer", "nasal cavity and paranasal sinus squamous cell carcinoma"], "xref": ["GARD:0025910", "MEDGEN:124722", "NCIT:C68611", "UMLS:C0280332"]}
{"category": ["biolink:Disease"], "description": "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.", "id": "MONDO:0044788", "name": "Perihilar intrahepatic cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["perihilar ICC", "perihilar bile duct carcinoma", "perihilar intrahepatic cholangiocarcinoma"], "xref": ["GARD:0025911", "NCIT:C96804", "ONCOTREE:PHCH"]}
{"category": ["biolink:Disease"], "description": "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.", "id": "MONDO:0044789", "name": "Digital papillary eccrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["aggressive digital papillary adenocarcinoma", "digit papillary eccrine carcinoma", "digital papillary carcinoma", "digital papillary carcinoma of skin", "digital papillary eccrine carcinoma", "papillary digital eccrine carcinoma", "papillary eccrine carcinoma of digit"], "xref": ["DOID:5590", "MEDGEN:277955", "NCIT:C27534", "ONCOTREE:ADPA", "UMLS:C1367789"]}
{"category": ["biolink:Disease"], "description": "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.", "id": "MONDO:0044791", "name": "Combined hepatocellular carcinoma and cholangiocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cholangiohepatoma", "Hepatocholangiocarcinoma", "Mixed hepatocellular cholangiocarcinoma", "carcinoma of the liver and intrahepatic biliary tract", "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)", "combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)", "combined hepatocellular carcinoma and cholangiocarcinoma"], "xref": ["GARD:0022200", "MEDGEN:113160", "NCIT:C3828", "Orphanet:529852", "SCTID:274902006", "UMLS:C0221287", "icd11.foundation:1097637010", "icd11.foundation:1600108866", "icd11.foundation:894488488"]}
{"category": ["biolink:Disease"], "description": "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.", "id": "MONDO:0044792", "name": "Large congenital melanocytic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Giant Congenital Melanocytic Nevus", "bathing trunk nevus", "congenital melanocytic nevi", "congenital melanocytic nevus", "congenital melanocytic nevus of skin", "congenital melanocytic nevus of the skin", "congenital nevus of skin", "congenital nevus of the skin", "congenital pigmented melanocytic Nevus", "congenital pigmented nevus of skin", "congenital pigmented nevus of the skin", "congenital pigmented skin nevus", "congenital skin nevus", "giant congenital nevus", "giant pigmented hairy nevus", "giant pigmented nevus of skin", "giant pigmented nevus of the skin", "large congenital melanocytic nevus", "melanocytic nevus syndrome, congenital, somatic", "spitz nevus or nevus spilus, somatic"], "xref": ["DOID:0111359", "GARD:0002469", "ICDO:8761/1", "MEDGEN:330752", "MedDRA:10072036", "NCIT:C3944", "NCIT:C4234", "NORD:1184", "OMIM:137550", "ONCOTREE:SKCN", "Orphanet:626", "SCTID:254815002", "SCTID:398696001", "UMLS:C1842036", "icd11.foundation:618273329"]}
{"category": ["biolink:Disease"], "description": "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.", "id": "MONDO:0044793", "name": "Spitz nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"], "synonym": ["benign juvenile melanoma", "juvenile nevus", "spindle and/ or epithelioid cell Nevus", "spitz nevus"], "xref": ["ICDO:8770/0", "MEDGEN:1876516", "NCIT:C27007", "UMLS:C5979990"]}
{"category": ["biolink:Disease"], "description": "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.", "id": "MONDO:0044794", "name": "Benign melanocytic skin nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["benign melanocytic nevus", "benign melanocytic nevus of skin", "benign melanocytic nevus of the skin", "benign melanocytic skin nevus", "benign mole", "benign nevus of skin", "benign nevus of the skin", "benign skin nevus"], "xref": ["MEDGEN:264151", "NCIT:C7571", "UMLS:C1456781"]}
{"category": ["biolink:Disease"], "description": "A nevus characterized by the presence of large epithelioid melanocytes.", "id": "MONDO:0044795", "name": "Epithelioid cell nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epithelioid cell nevus"], "xref": ["MEDGEN:75480", "NCIT:C66757", "UMLS:C0259820"]}
{"category": ["biolink:Disease"], "description": "A nevus characterized by the presence of spindle-shaped melanocytes.", "id": "MONDO:0044796", "name": "Spindle cell nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["spindle cell nevus"], "xref": ["MEDGEN:60220", "NCIT:C66758", "SCTID:253038006", "UMLS:C0206738"]}
{"category": ["biolink:Disease"], "description": "A benign melanocytic nevus characterized by the presence of desmoplastic stroma.", "id": "MONDO:0044797", "name": "Desmoplastic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Desmoplastic Nevus"], "xref": ["MEDGEN:91083", "NCIT:C4497", "UMLS:C0346098"]}
{"category": ["biolink:Disease"], "description": "A Spitz nevus associated with fibrous stroma formation.", "id": "MONDO:0044800", "name": "Desmoplastic spitz nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Desmoplastic spitz Nevus"], "xref": ["MEDGEN:266159", "NCIT:C82864", "SCTID:400022009", "UMLS:C1275419"]}
{"category": ["biolink:Disease"], "description": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0044807", "name": "Inherited dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["familial dystonia", "hereditary dystonic disorder", "rare genetic dystonia", "rare genetic dystonic disorder"], "xref": ["GARD:0021630", "MEDGEN:1842468", "NANDO:1200511", "NCIT:C35527", "OMIMPS:128100", "Orphanet:391799", "UMLS:C5680022"]}
{"category": ["biolink:Disease"], "description": "Torsion dystonia for which no underlying cause has been identified.", "id": "MONDO:0044811", "name": "Idiopathic torsion dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Idiopathic torsion dystonia", "idiopathic torsion dystonia", "primary torsion dystonia"], "xref": ["GARD:0027976", "ICD9:333.6", "MEDGEN:1850109", "NCIT:C34564", "SCTID:22451001", "UMLS:C5848258"]}
{"category": ["biolink:Disease"], "description": "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.", "id": "MONDO:0044816", "name": "Familial idiopathic torsion dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["familial Idiopathic dystonia", "hereditary idiopathic torsion dystonia", "idiopathic familial dystonia"], "xref": ["GARD:0025912", "ICD10CM:G24.1", "MEDGEN:95980", "NCIT:C35437", "SCTID:230318005", "UMLS:C0393598"]}
{"category": ["biolink:Disease"], "description": "An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.", "id": "MONDO:0044817", "name": "Acquired idiopathic torsion dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired idiopathic torsion dystonia", "idiopathic non-familial dystonia", "non-Familial Idiopathic dystonia"], "xref": ["GARD:0027977", "MEDGEN:98279", "NCIT:C35438", "SCTID:230321007", "UMLS:C0393601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044843", "name": "Torsion dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["torsion dystonia"], "xref": ["GARD:0027978", "MEDGEN:3941", "SCTID:431034009", "UMLS:C0013423"]}
{"category": ["biolink:Disease"], "description": "An instance of torsion dystonia that is acquired during the lifetime of the individual.", "id": "MONDO:0044870", "name": "Acquired torsion dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired torsion dystonia"], "xref": ["GARD:0027979", "MEDGEN:739598", "SCTID:433493000", "UMLS:C1719382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044871", "name": "Dystonia, focal, task-specific", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FTSD", "dystonia, focal, task-specific", "musician's cramp"], "xref": ["GARD:0006458", "MEDGEN:370752", "MESH:C566973", "OMIM:611284", "SCTID:230330004", "UMLS:C1969807"]}
{"category": ["biolink:Disease"], "description": "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.", "id": "MONDO:0044872", "name": "Dysautonomia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dysautonomia"], "xref": ["MEDGEN:8511", "NCIT:C53439", "UMLS:C0013363"]}
{"category": ["biolink:Disease"], "description": "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.", "id": "MONDO:0044873", "name": "Childhood myelodysplastic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood MDS", "childhood myelodysplastic syndrome"], "xref": ["GARD:0025913", "MEDGEN:389541", "NANDO:2100003", "NANDO:2200019", "NCIT:C68744", "UMLS:C2347761"]}
{"category": ["biolink:Disease"], "description": "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.", "id": "MONDO:0044874", "name": "Refractory cytopenia of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RCC", "refractory cytopenia of childhood"], "xref": ["GARD:0025914", "MEDGEN:417430", "NCIT:C82596", "ONCOTREE:RCYC", "UMLS:C2826323", "icd11.foundation:699075426"]}
{"category": ["biolink:Disease"], "description": "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.", "id": "MONDO:0044875", "name": "Coronary microvascular disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CMD", "coronary microvascular disease", "heart disease of microvascular endothelium", "microvascular endothelium heart disease"], "xref": ["MEDGEN:104771", "NCIT:C84478", "UMLS:C0206064", "icd11.foundation:1752457658"]}
{"category": ["biolink:Disease"], "description": "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.", "id": "MONDO:0044877", "name": "Paraneoplastic cerebellar degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["paraneoplastic cerebellar degeneration"], "xref": ["GARD:0022493", "MEDGEN:98273", "MESH:D020362", "NCIT:C4685", "Orphanet:623626", "UMLS:C0393534", "icd11.foundation:1087616692"]}
{"category": ["biolink:Disease"], "description": "A germ cell tumor that occurs during adulthood.", "id": "MONDO:0044878", "name": "Adult germ cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Adult germ cell tumor", "Adult germ cell tumour", "germ cell tumor of adults", "germ cell tumour of adults"], "xref": ["GARD:0025915", "MEDGEN:859695", "NCIT:C114777", "UMLS:C3900101"]}
{"category": ["biolink:Disease"], "description": "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.", "id": "MONDO:0044879", "name": "Pancreatic mucinous-cystic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Pancreatic mucinous cystic neoplasm", "Pancreatic mucinous-cystic neoplasm"], "xref": ["MEDGEN:274120", "NCIT:C41247", "ONCOTREE:MCN", "UMLS:C1518872"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044880", "name": "Cystic tumor of the pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["NCIT:C200227", "ONCOTREE:PACT"]}
{"category": ["biolink:Disease"], "description": "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.", "id": "MONDO:0044881", "name": "Hematopoietic and lymphoid cell neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HEMOLYMPHORETICULAR tumor, malignant", "haematological neoplasm", "haematological tumour", "haematopoietic and lymphoid neoplasms", "haematopoietic cancer", "haematopoietic cell tumour", "haematopoietic malignancy, NOS", "haematopoietic neoplasm", "haematopoietic neoplasms including lymphomas", "haematopoietic tumour", "hematologic cancer", "hematologic malignancy", "hematologic neoplasm", "hematological neoplasm", "hematological tumor", "hematopoietic and lymphoid cell neoplasm", "hematopoietic and lymphoid neoplasms", "hematopoietic cancer", "hematopoietic cell tumor", "hematopoietic malignancy, NOS", "hematopoietic neoplasm", "hematopoietic neoplasms including lymphomas", "hematopoietic tumor", "hematopoietic, Including myeloma", "malignant haematopoietic neoplasm", "malignant hematologic neoplasm", "malignant hematopoietic neoplasm"], "xref": ["GARD:0025916", "MEDGEN:91264", "NCIT:C27134", "UMLS:C0376544"]}
{"category": ["biolink:Disease"], "description": "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.", "id": "MONDO:0044884", "name": "Tonsillar lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Primary tonsillar lymphoma", "lymphoma of the tonsil", "lymphoma of tonsil", "tonsil lymphoma", "tonsillar lymphoma"], "xref": ["GARD:0025917", "MEDGEN:234432", "NCIT:C5918", "UMLS:C1336765"]}
{"category": ["biolink:Disease"], "description": "A benign adipose tissue neoplasm of the tonsils.", "id": "MONDO:0044885", "name": "Tonsillar lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["lipoma of the tonsil", "lipoma of tonsil", "tonsil lipoma", "tonsillar lipoma"], "xref": ["MEDGEN:234431", "NCIT:C5989", "UMLS:C1336764"]}
{"category": ["biolink:Disease"], "description": "A non-Hodgkin lymphoma that arises from the central nervous system.", "id": "MONDO:0044887", "name": "Central nervous system non-hodgkin lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Central nervous system non-Hodgkin lymphoma", "Primary Central nervous system non-Hodgkin lymphoma", "central nervous system non-Hodgkin lymphoma", "non-Hodgkin lymphoma of central nervous system"], "xref": ["GARD:0025918", "MEDGEN:745669", "NCIT:C114779", "SCTID:448254007", "UMLS:C2213246"]}
{"category": ["biolink:Disease"], "description": "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.", "id": "MONDO:0044889", "name": "High grade b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HGBL", "high grade B-cell lymphoma", "high-grade B-cell lymphoma"], "xref": ["GARD:0025919", "MEDGEN:629622", "NCIT:C138211", "SCTID:277617004", "UMLS:C0456863"]}
{"category": ["biolink:Disease"], "description": "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003", "id": "MONDO:0044903", "name": "Myelofibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["myelofibrosis"], "xref": ["GARD:0025920", "MEDGEN:10146", "NANDO:2100200", "NANDO:2200692", "NCIT:C3248", "UMLS:C0026987"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.", "id": "MONDO:0044906", "name": "Bladder urothelial papilloma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bladder transitional cell papilloma", "bladder urothelial papilloma", "urinary bladder transitional cell papilloma", "urinary bladder urothelial papilloma"], "xref": ["MEDGEN:237227", "NCIT:C39858", "UMLS:C1384678"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.", "id": "MONDO:0044907", "name": "Metastatic squamous cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Metastatic squamous cell carcinoma"], "xref": ["MEDGEN:90749", "NCIT:C4104", "SCTID:403906006", "UMLS:C0334246"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.", "id": "MONDO:0044912", "name": "Metastatic malignant neoplasm in the spinal cord", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Metastatic malignant neoplasm in the spinal cord", "Metastatic malignant neoplasm to the spinal cord", "Metastatic neoplasm to the spinal cord", "Metastatic tumor to the spinal cord", "Metastatic tumour to the spinal cord", "Secondary malignant neoplasm to the spinal cord", "Secondary malignant tumor to the spinal cord", "Secondary malignant tumour to the spinal cord", "metastasis to spinal cord"], "xref": ["GARD:0027980", "MEDGEN:138075", "NCIT:C4585", "SCTID:94600009", "UMLS:C0347016"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that has spread to the eye from another anatomic site.", "id": "MONDO:0044913", "name": "Metastatic malignant neoplasm in the eye", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Metastases to eye", "Metastases to the eye", "Metastatic malignant neoplasm in the eye", "Metastatic malignant neoplasm to the eye", "Metastatic neoplasm to the eye", "Metastatic tumor to the eye", "Metastatic tumour to the eye", "eye metastasis", "metastasis to eye", "metastasis to the eye"], "xref": ["MEDGEN:91115", "NCIT:C4586", "SCTID:94292003", "UMLS:C0347019"]}
{"category": ["biolink:Disease"], "description": "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.", "id": "MONDO:0044915", "name": "Salivary duct carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of duct of salivary gland", "carcinoma of salivary duct", "carcinoma of the salivary duct", "duct of salivary gland carcinoma", "high grade salivary duct carcinoma", "salivary duct carcinoma"], "xref": ["GARD:0027981", "MEDGEN:220969", "NCIT:C5904", "ONCOTREE:SDCA", "UMLS:C1301194"]}
{"category": ["biolink:Disease"], "description": "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.", "id": "MONDO:0044916", "name": "Extrarenal rhabdoid tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["extrarenal rhabdoid tumor", "malignant extrarenal rhabdoid neoplasm", "rhabdoid tumor of soft tissue", "rhabdoid tumour of soft tissue"], "xref": ["GARD:0025921", "MEDGEN:224918", "NCIT:C6586", "SCTID:404089007", "UMLS:C1304517"]}
{"category": ["biolink:Disease"], "description": "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)", "id": "MONDO:0044917", "name": "T-lymphoblastic lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Precur. T-lymphoblastic lymphoma", "T Lymphoblastic lymphoma", "T-Lymphoblastic lymphoma", "T-lymphoblastic lymphoma", "precursor T Lymphoblastic lymphoma", "precursor T-Lymphoblastic lymphoma", "precursor T-cell Lymphoblastic lymphoma", "precursor T-lymphoblastic lymphoma"], "xref": ["GARD:0025922", "MEDGEN:266232", "NANDO:2200023", "NCIT:C6919", "SCTID:421246008", "UMLS:C1292758"]}
{"category": ["biolink:Disease"], "description": "A primary or metastatic malignant neoplasm that affects the renal pelvis.", "id": "MONDO:0044919", "name": "Malignant renal pelvis neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer of renal pelvis", "malignant neoplasm of renal pelvis", "malignant neoplasm of the renal pelvis", "malignant renal pelvis neoplasm", "malignant renal pelvis tumor", "malignant renal pelvis tumour", "malignant tumor of renal pelvis", "malignant tumor of the renal pelvis", "malignant tumour of renal pelvis", "malignant tumour of the renal pelvis", "renal pelvis cancer"], "xref": ["MEDGEN:57793", "NCIT:C7525", "UMLS:C0153618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044921", "name": "Atypical lymphoproliferative disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["atypical lymphoid hyperplasia", "atypical lymphoproliferative disorder"], "xref": ["GARD:0025923", "MEDGEN:75775", "NCIT:C7764", "SCTID:20991001", "UMLS:C0272217"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.", "id": "MONDO:0044923", "name": "Acute myeloid leukemia with mutated npm1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["AML with mutated NPM1", "AML, Mutation of the Nucleophosmin Gene", "AML, NPM1 Mutation", "AML, NPM1 gene mutation", "AML, Nucleophosmin Gene Mutation", "NPMc+ AML", "acute myeloid leukaemia with cytoplasmic nucleophosmin", "acute myeloid leukemia with cytoplasmic nucleophosmin", "acute myeloid leukemia with mutated NPM1", "acute myeloid leukemia, NPM1 gene mutation"], "xref": ["DOID:0081089", "GARD:0025924", "MEDGEN:414842", "NCIT:C82431", "ONCOTREE:AMLNPM1", "UMLS:C2826177"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.", "id": "MONDO:0044925", "name": "Oral cavity carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of mouth", "carcinoma of oral cavity", "carcinoma of the oral cavity", "mouth carcinoma", "oral cavity carcinoma"], "xref": ["GARD:0027982", "MEDGEN:57468", "NCIT:C8990", "UMLS:C0151546"]}
{"category": ["biolink:Disease"], "description": "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.", "id": "MONDO:0044926", "name": "Oropharyngeal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of oropharynx", "carcinoma of the oropharynx", "oropharyngeal carcinoma", "oropharynx carcinoma"], "xref": ["GARD:0027983", "MEDGEN:379086", "NCIT:C9105", "UMLS:C2349952"]}
{"category": ["biolink:Disease"], "description": "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.", "id": "MONDO:0044937", "name": "Rectal carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["carcinoma of rectum", "carcinoma of the rectum", "rectal carcinoma", "rectum carcinoma"], "xref": ["MEDGEN:40100", "NCIT:C9382", "UMLS:C0007113"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.", "id": "MONDO:0044956", "name": "Paranasal sinus mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["accessory sinus mucoepidermoid carcinoma", "mucoepidermoid carcinoma of accessory sinus", "mucoepidermoid carcinoma of paranasal sinus", "mucoepidermoid carcinoma of the accessory sinus", "mucoepidermoid carcinoma of the paranasal sinus", "paranasal sinus mucoepidermoid carcinoma"], "xref": ["GARD:0025925", "MEDGEN:235461", "NCIT:C6018", "UMLS:C1335340"]}
{"category": ["biolink:Disease"], "description": "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.", "id": "MONDO:0044964", "name": "Oral cavity mucoepidermoid carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["mucoepidermoid carcinoma of oral cavity", "mucoepidermoid carcinoma of the oral cavity", "oral cavity mucoepidermoid cancer", "oral cavity mucoepidermoid carcinoma"], "xref": ["GARD:0025926", "MEDGEN:83629", "NCIT:C8177", "UMLS:C0280309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044970", "name": "Mitochondrial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:rare_grouping"], "xref": ["GARD:0027984", "MEDGEN:155901", "NANDO:1200173", "NANDO:2100163", "UMLS:C0751651"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the eosinophil.", "id": "MONDO:0044972", "name": "Eosinophil disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of eosinophil", "disease or disorder of eosinophil", "disorder of eosinophil", "eosinophil disease or disorder"], "xref": ["MEDGEN:739396", "SCTID:417967008", "UMLS:C1691020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044981", "name": "Pseudoallergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-allergic hypersensitivity to substance", "pseudoallergy to substance"], "xref": ["ICD9:V15.09", "MEDGEN:783416", "SCTID:609397002", "UMLS:C3662262"]}
{"category": ["biolink:Disease"], "id": "MONDO:0044982", "name": "Drug pseudoallergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["drug pseudoallergy"], "xref": ["MEDGEN:783426", "SCTID:609398007", "UMLS:C3662272"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.", "id": "MONDO:0044983", "name": "Benign lipomatous neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["adipose tissue benign connective and soft tissue neoplasm", "benign adipose tissue neoplasm", "benign adipose tissue tumor", "benign adipose tissue tumour", "benign connective and soft tissue neoplasm of adipose tissue", "benign lipomatous neoplasm", "benign lipomatous tumor", "benign lipomatous tumour", "benign neoplasm of adipose tissue", "benign neoplasm of the adipose tissue", "benign tumor of the adipose tissue", "benign tumour of the adipose tissue"], "xref": ["ICD10CM:D17", "ICD10WHO:D17", "MEDGEN:91084", "NCIT:C4502", "UMLS:C0346118", "icd11.foundation:226447034"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the nasolacrimal duct.", "id": "MONDO:0044984", "name": "Nasolacrimal duct disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of nasolacrimal duct", "disease or disorder of nasolacrimal duct", "disorder of nasolacrimal duct", "nasolacrimal duct disease", "nasolacrimal duct disease or disorder"], "xref": ["MEDGEN:636806", "SCTID:95767006", "UMLS:C0521744"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the lymphoid system.", "id": "MONDO:0044986", "name": "Lymphoid system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of lymphoid system", "disease or disorder of lymphoid system", "disorder of lymphoid system", "lymphoid system disease", "lymphoid system disease or disorder"], "xref": ["MEDGEN:9829", "SCTID:111590001", "UMLS:C0024228"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the upper digestive tract.", "id": "MONDO:0044991", "name": "Upper digestive tract disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of upper digestive tract", "disease or disorder of upper digestive tract", "disorder of upper digestive tract", "disorder of upper gastrointestinal tract", "upper digestive tract disease or disorder", "upper gastrointestinal tract disease"], "xref": ["MEDGEN:712971", "SCTID:119291004", "UMLS:C1290613"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the mouth mucosa.", "id": "MONDO:0044992", "name": "Mouth mucosa disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of mouth mucosa", "disease or disorder of mouth mucosa", "disorder of mouth mucosa", "disorder of oral mucous membrane", "mouth mucosa disease or disorder", "oral mucous membrane disease"], "xref": ["MEDGEN:712457", "SCTID:128046007", "UMLS:C1290071"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the sympathetic nervous system.", "id": "MONDO:0044993", "name": "Sympathetic nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of sympathetic nervous system", "disease or disorder of sympathetic nervous system", "disorder of sympathetic nervous system", "sympathetic nervous system disease", "sympathetic nervous system disease or disorder"], "xref": ["MEDGEN:148206", "SCTID:50330009", "UMLS:C0750946"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the parasympathetic nervous system.", "id": "MONDO:0044995", "name": "Parasympathetic nervous system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of parasympathetic nervous system", "disease or disorder of parasympathetic nervous system", "disorder of parasympathetic nervous system", "parasympathetic nervous system disease", "parasympathetic nervous system disease or disorder"], "xref": ["MEDGEN:148205", "SCTID:46091002", "UMLS:C0750945"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the cerebral cortex.", "id": "MONDO:0044996", "name": "Cerebral cortex disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral cortex disease", "cerebral cortex disease or disorder", "disease of cerebral cortex", "disease or disorder of cerebral cortex", "disorder of cerebral cortex"], "xref": ["MEDGEN:688117", "SCTID:128128003", "UMLS:C1263847"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the midbrain.", "id": "MONDO:0044997", "name": "Midbrain disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of midbrain", "disease or disorder of midbrain", "disorder of midbrain", "midbrain disease", "midbrain disease or disorder"], "xref": ["MEDGEN:636737", "SCTID:95641009", "UMLS:C0521655"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the cardiac ventricle.", "id": "MONDO:0045001", "name": "Cardiac ventricle disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiac ventricle disease", "cardiac ventricle disease or disorder", "disease of cardiac ventricle", "disease or disorder of cardiac ventricle", "disorder of cardiac ventricle"], "xref": ["MEDGEN:736361", "SCTID:415991003", "UMLS:C1562298"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the vertebra.", "id": "MONDO:0045002", "name": "Vertebral disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of vertebra", "disease or disorder of vertebra", "disorder of vertebra", "vertebra disease", "vertebra disease or disorder"], "xref": ["MEDGEN:747221", "SCTID:430886005", "UMLS:C2316319"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the scrotum.", "id": "MONDO:0045003", "name": "Scrotal disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of scrotum", "disease or disorder of scrotum", "disorder of scrotum", "scrotum disease", "scrotum disease or disorder"], "xref": ["MEDGEN:541586", "SCTID:49701002", "UMLS:C0268919"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the skeletal ligament.", "id": "MONDO:0045004", "name": "Skeletal ligament disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "synonym": ["disease of skeletal ligament", "disease or disorder of skeletal ligament", "disorder of skeletal ligament", "skeletal ligament disease or disorder"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cholesterol metabolic process.", "id": "MONDO:0045008", "name": "Cholesterol metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cholesterol metabolic process disease", "cholesterol metabolism disease", "disorder of cholesterol metabolic process", "disorder of cholesterol metabolism"], "xref": ["GARD:0025928", "MEDGEN:575263", "SCTID:123963007", "UMLS:C0342877"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of glycoprotein metabolic process.", "id": "MONDO:0045010", "name": "Glycoprotein metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of glycoprotein metabolic process", "disorder of glycoprotein metabolism", "glycoprotein metabolic process disease", "glycoprotein metabolism disease"], "xref": ["GARD:0025929", "MEDGEN:575248", "SCTID:238045003", "UMLS:C0342844"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045011", "name": "Keratinization disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of keratinization", "keratinization disease"], "xref": ["MEDGEN:635020", "SCTID:277905003", "UMLS:C0475811"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of steroid metabolic process.", "id": "MONDO:0045012", "name": "Steroid metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of steroid metabolic process", "disorder of steroid metabolism", "steroid metabolic process disease", "steroid metabolism disease"], "xref": ["MEDGEN:541265", "SCTID:28710006", "UMLS:C0268283"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the extraembryonic membrane.", "id": "MONDO:0045013", "name": "Disorder of extraembryonic membrane", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disease of extraembryonic membrane", "disease or disorder of extraembryonic membrane", "disorder of extraembryonic membrane", "extraembryonic membrane disease", "extraembryonic membrane disease or disorder"], "xref": ["MEDGEN:783294", "SCTID:609522002", "UMLS:C3662139"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.", "id": "MONDO:0045014", "name": "Tetrahydrobiopterin metabolic process disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder of tetrahydrobiopterin metabolic process", "disorder of tetrahydrobiopterin metabolism", "tetrahydrobiopterin metabolism disease"], "xref": ["GARD:0025930", "MEDGEN:575174", "SCTID:237913008", "UMLS:C0342676"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of carbohydrate transport.", "id": "MONDO:0045015", "name": "Carbohydrate transport disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carbohydrate transport disease", "disorder of carbohydrate transport"], "xref": ["MEDGEN:541226", "SCTID:54905006", "UMLS:C0268173"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cholesterol catabolic process.", "id": "MONDO:0045016", "name": "Cholesterol catabolic process disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cholesterol catabolism disease", "disorder of cholesterol catabolic process", "disorder of cholesterol catabolism"], "xref": ["GARD:0025931", "MEDGEN:575238", "SCTID:238032002", "UMLS:C0342825"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of cholesterol biosynthetic process.", "id": "MONDO:0045017", "name": "Cholesterol biosynthetic process disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cholesterol synthesis disease", "disorder of cholesterol biosynthetic process", "disorder of cholesterol synthesis"], "xref": ["GARD:0025932", "MEDGEN:575241", "SCTID:238036004", "UMLS:C0342829"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of creatine biosynthetic process.", "id": "MONDO:0045018", "name": "Creatine biosynthetic process disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["creatine synthesis disease", "disorder of creatine biosynthetic process", "disorder of creatine synthesis"], "xref": ["MEDGEN:657799", "SCTID:297226004", "UMLS:C0574079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045019", "name": "Lactation disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of lactation", "lactation disease"], "xref": ["MEDGEN:5997", "SCTID:35046003", "UMLS:C0022927"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of glycine metabolic process.", "id": "MONDO:0045020", "name": "Glycine metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of glycine metabolic process", "disorder of glycine metabolism", "glycine metabolic process disease", "glycine metabolism disease"], "xref": ["MEDGEN:541361", "SCTID:83076007", "UMLS:C0268558"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of organic acid metabolic process.", "id": "MONDO:0045022", "name": "Disorder of organic acid metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disorder of organic acid metabolic process", "disorder of organic acid metabolism", "organic acid metabolic process disease", "organic acid metabolism disorder"], "xref": ["ICD9:277.89", "MEDGEN:468982", "NANDO:2100161", "SCTID:116021002", "UMLS:C1263739"]}
{"category": ["biolink:Disease"], "description": "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.", "id": "MONDO:0045023", "name": "Acquired adrenogenital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired adrenogenital syndrome"], "xref": ["GARD:0025933", "MEDGEN:536747", "SCTID:190512008", "UMLS:C0237971", "icd11.foundation:1228689964"]}
{"category": ["biolink:Disease"], "description": "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.", "id": "MONDO:0045024", "name": "Cancer or benign tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045030", "name": "Non-infectious diarrheal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["non-infective diarrhea", "non-infective diarrhoea"], "xref": ["MEDGEN:540680", "SCTID:69980003", "UMLS:C0267436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045032", "name": "Congenital secretory diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital secretory diarrhea"], "xref": ["ICD9:579.8", "MEDGEN:82757", "SCTID:25898005", "UMLS:C0267661"]}
{"category": ["biolink:Disease"], "description": "A mycosis that arises from infection in an immunologically compromised host and is systemic.", "id": "MONDO:0045033", "name": "Opportunistic systemic mycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.", "id": "MONDO:0045037", "name": "Hyalohyphomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyalohyphomycosis"], "xref": ["MEDGEN:452455", "MESH:D060605", "SCTID:240773008", "UMLS:C0343952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045038", "name": "Cutaneous basidiobolomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025934", "MEDGEN:575967", "SCTID:240786004", "UMLS:C0343966"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045039", "name": "Systemic basidiobolomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disseminated basidiobolomycosis"], "xref": ["GARD:0025935", "MEDGEN:575968", "SCTID:240787008", "UMLS:C0343967"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the broad ligament of uterus.", "id": "MONDO:0045043", "name": "Disorder of uterine broad ligament", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["broad ligament of uterus disease", "broad ligament of uterus disease or disorder", "disease of broad ligament of uterus", "disease or disorder of broad ligament of uterus", "disorder of broad ligament", "disorder of broad ligament of uterus"], "xref": ["MEDGEN:589074", "SCTID:237062006", "UMLS:C0404479"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the ligament.", "id": "MONDO:0045044", "name": "Ligament disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare_grouping"], "synonym": ["disease of ligament", "disease or disorder of ligament", "disorder of ligament", "ligament disease or disorder"], "xref": ["MEDGEN:538235", "SCTID:60492000", "UMLS:C0263976"]}
{"category": ["biolink:Disease"], "description": "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.", "id": "MONDO:0045045", "name": "Selective igg immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["selective IgG immunodeficiency"], "xref": ["GARD:0025936", "MEDGEN:1618515", "NANDO:1200346", "NCIT:C27142", "SCTID:12631000119106", "UMLS:C4520847"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.", "id": "MONDO:0045046", "name": "Inherited thyroid metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["inborn error of thyroid hormone metabolic process", "inborn thyroid hormone metabolic process disorder", "inherited disorder of thyroid metabolism", "rare inborn error of thyroid hormone metabolic process"], "xref": ["GARD:0025937", "ICD9:246.8", "MEDGEN:543589", "SCTID:36985004", "UMLS:C0271824"]}
{"category": ["biolink:Disease"], "description": "A sarcoidosis that involves the nervous system.", "id": "MONDO:0045047", "name": "Neurosarcoidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["nervous system sarcoidosis", "neurosarcoidosis", "sarcoidosis of nervous system"], "xref": ["GARD:0025938", "MEDGEN:97948", "MESH:C535814", "SCTID:230193008", "UMLS:C0393485", "icd11.foundation:1479285656"]}
{"category": ["biolink:Disease"], "description": "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.", "id": "MONDO:0045048", "name": "Toxemia of pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["toxemia of pregnancy"], "xref": ["MEDGEN:1638686", "NCIT:C34943", "UMLS:C4551893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045049", "name": "Hypermature cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypermature cataract"], "xref": ["SCTID:267626000"]}
{"category": ["biolink:Disease"], "description": "A cataract (disease) that involves the lens nucleus.", "id": "MONDO:0045050", "name": "Nuclear cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cataract (disease) of lens nucleus", "lens nucleus cataract (disease)"], "xref": ["HP:0100018", "ICD9:366.04", "MEDGEN:140274", "NCIT:C135176", "SCTID:53889007", "UMLS:C0392557", "icd11.foundation:2020818341"]}
{"category": ["biolink:Disease"], "description": "A cataract (disease) that involves the lens cortex.", "id": "MONDO:0045051", "name": "Cortical cataract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cataract (disease) of lens cortex", "lens cortex cataract (disease)"], "xref": ["ICD9:366.03", "MEDGEN:82868", "NCIT:C135177", "SCTID:193576003", "UMLS:C0271160", "icd11.foundation:1118806999"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.", "id": "MONDO:0045052", "name": "Benign osteogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["benign osteogenic neoplasm", "benign osteogenic tumor", "benign osteogenic tumour", "osteogenic neoplasm, benign"], "xref": ["MEDGEN:231943", "NCIT:C6602", "UMLS:C1332523"]}
{"category": ["biolink:Disease"], "description": "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.", "id": "MONDO:0045053", "name": "Osteogenic neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["osteogenic neoplasm", "osteogenic tumor", "osteogenic tumour"], "xref": ["MEDGEN:277453", "NCIT:C6603", "UMLS:C1335146"]}
{"category": ["biolink:Disease"], "description": "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).", "id": "MONDO:0045054", "name": "Cancer-related condition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cancer related problem/condition", "cancer-related condition", "cancer-related problem or condition", "oncologic complications", "problem/condition, cancer related", "problem/condition, cancer-related"], "xref": ["MEDGEN:128925", "NCIT:C8278", "UMLS:C0280950"]}
{"category": ["biolink:Disease"], "description": "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.", "id": "MONDO:0045055", "name": "Glycogen-rich carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Glycogen-rich carcinoma"], "xref": ["DOID:0081028", "MEDGEN:83127", "NCIT:C4153", "UMLS:C0334319"]}
{"category": ["biolink:Disease"], "description": "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.", "id": "MONDO:0045056", "name": "Grade ii meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["WHO grade II meningioma", "grade 2 meningioma", "grade II meningioma"], "xref": ["GARD:0025939", "MEDGEN:307517", "NCIT:C38937", "UMLS:C1512259"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)", "id": "MONDO:0045057", "name": "Delirium", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0009267", "ICD9:293.0", "MEDGEN:41445", "MESH:D003693", "NCIT:C2981", "SCTID:2776000", "UMLS:C0011206", "icd11.foundation:897917531"]}
{"category": ["biolink:Disease"], "description": "An adenoma or carcinoma of the pituitary gland that produces corticotropin.", "id": "MONDO:0045058", "name": "Acth-producing pituitary gland neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACTH producing pituitary gland neoplasm", "ACTH-producing pituitary gland neoplasm", "ACTH-producing pituitary neoplasm", "ACTH-producing pituitary tumor", "ACTH-producing pituitary tumour", "ACTH-secreting tumor of pituitary", "ACTH-secreting tumor of the pituitary", "ACTH-secreting tumour of pituitary", "ACTH-secreting tumour of the pituitary", "adrenocorticotropin producing pituitary gland tumor", "adrenocorticotropin producing pituitary gland tumour", "adrenocorticotropin secreting neoplasm of pituitary", "adrenocorticotropin secreting neoplasm of the pituitary", "adrenocorticotropin secreting pituitary gland tumor", "adrenocorticotropin secreting pituitary gland tumour", "adrenocorticotropin secreting tumor of pituitary", "adrenocorticotropin secreting tumor of the pituitary", "adrenocorticotropin secreting tumour of pituitary", "adrenocorticotropin secreting tumour of the pituitary", "corticotropin secreting pituitary gland neoplasm", "pituitary corticotropin secreting neoplasm", "pituitary corticotropin secreting tumor", "pituitary corticotropin secreting tumour"], "xref": ["GARD:0025940", "MEDGEN:82997", "NCIT:C7909", "UMLS:C0278862"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045059", "name": "Cribriform carcinoma of breast", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:5675", "MEDGEN:1843502", "UMLS:C2138440", "icd11.foundation:1025219649"]}
{"category": ["biolink:Disease"], "description": "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.", "id": "MONDO:0045060", "name": "Intraductal cribriform breast adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DCIS of breast with cribriform pattern", "DCIS of the breast with cribriform pattern", "cribriform DCIS of breast", "cribriform DCIS of the breast", "cribriform ductal breast carcinoma in situ", "cribriform ductal carcinoma in situ of breast", "cribriform ductal carcinoma in situ of the breast", "ductal carcinoma in situ of breast with cribriform pattern", "ductal carcinoma in situ of the breast with cribriform pattern", "intraductal cribriform breast adenocarcinoma", "non-infiltrating cribriform ductal breast carcinoma", "non-invasive cribriform ductal breast carcinoma"], "xref": ["ICDO:8201/2", "MEDGEN:233570", "NCIT:C5138", "UMLS:C1334248"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.", "id": "MONDO:0045063", "name": "Major salivary gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of major salivary gland", "adenoid cystic carcinoma of the major salivary gland", "major salivary gland adenoid cystic cancer", "major salivary gland adenoid cystic carcinoma"], "xref": ["GARD:0025941", "MEDGEN:235286", "NCIT:C5905", "UMLS:C1334548"]}
{"category": ["biolink:Disease"], "description": "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.", "id": "MONDO:0045068", "name": "Minor salivary gland adenoid cystic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["adenoid cystic carcinoma of minor salivary gland", "adenoid cystic carcinoma of the minor salivary gland", "minor salivary gland adenoid cystic carcinoma"], "xref": ["GARD:0025942", "MEDGEN:233709", "NCIT:C5936", "UMLS:C1334769"]}
{"category": ["biolink:Disease"], "description": "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.", "id": "MONDO:0045069", "name": "Minor salivary gland carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["carcinoma of minor salivary gland", "carcinoma of the minor salivary gland", "minor salivary gland cancer", "minor salivary gland carcinoma"], "xref": ["GARD:0027985", "MEDGEN:233710", "NCIT:C5957", "UMLS:C1334771"]}
{"category": ["biolink:Disease"], "description": "A melanoma that arises from any part of the digestive system.", "id": "MONDO:0045070", "name": "Digestive system melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["digestive system melanoma", "digestive system melanoma (disease)", "gastrointestinal melanoma", "melanoma (disease) of digestive system"], "xref": ["MEDGEN:234305", "NCIT:C7091", "UMLS:C1333798"]}
{"category": ["biolink:Disease"], "id": "MONDO:0045071", "name": "Mycosis fungoides variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mycosis fungoides variant"], "xref": ["GARD:0025943", "MEDGEN:271222", "NCIT:C39644", "UMLS:C1513782"]}
{"category": ["biolink:Disease"], "description": "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.", "id": "MONDO:0045072", "name": "Ectopic hormone secretion syndrome associated with neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ectopic hormone secretion syndrome associated with neoplasia", "neoplasm associated ectopic hormone secretion syndrome"], "xref": ["MEDGEN:208863", "NCIT:C4065", "UMLS:C0851689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0049221", "name": "Myopia 26, x-linked, female-limited", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["myopia 26, X-linked, female-limited"], "xref": ["MEDGEN:1618364", "OMIM:301010", "UMLS:C4538795"]}
{"category": ["biolink:Disease"], "id": "MONDO:0049222", "name": "Intellectual disability, x-linked 107", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual developmental disorder, X-linked 107", "intellectual disability, X-linked 107"], "xref": ["DOID:0112054", "GARD:0022698", "MEDGEN:1639885", "OMIM:301013", "UMLS:C4692652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0049223", "name": "Osteogenesis imperfecta, type 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["osteogenesis imperfecta, type XIX, X-linked recessive"], "xref": ["DOID:0111847", "GARD:0025944", "MEDGEN:1648353", "OMIM:301014", "UMLS:C4746956"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054549", "name": "Peroxisome biogenesis disorder 10b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder 10B"], "xref": ["DOID:0081440", "GARD:0025945", "MEDGEN:1379481", "OMIM:617370", "UMLS:C4479254"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054550", "name": "Avascular necrosis of femoral head, primary, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["avascular necrosis of femoral head, primary, 1", "avascular necrosis of the femoral head"], "xref": ["GARD:0025946", "MEDGEN:1639295", "OMIM:608805", "UMLS:C4551562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054551", "name": "Avascular necrosis of femoral head, primary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["avascular necrosis of femoral head, primary, 2"], "xref": ["GARD:0025947", "MEDGEN:1386338", "OMIM:617383", "UMLS:C4479260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054559", "name": "Congenital disorder of glycosylation, type iiq", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["COG2-CDG", "COG2-related congenital disorder of glycosylation"], "xref": ["DOID:0070269", "GARD:0017720", "MEDGEN:1390458", "OMIM:617395", "Orphanet:435934", "UMLS:C4479353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054560", "name": "Anauxetic dysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anauxetic dysplasia 1"], "xref": ["DOID:0050640", "GARD:0025948", "MEDGEN:1638106", "OMIM:607095", "UMLS:C4551965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054561", "name": "Anauxetic dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anauxetic dysplasia 2"], "xref": ["DOID:0080962", "GARD:0025949", "MEDGEN:1384439", "OMIM:617396", "UMLS:C4479357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054565", "name": "Short-rib thoracic dysplasia 17 with or without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025950", "MEDGEN:1372794", "OMIM:617405", "UMLS:C4479416"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054573", "name": "Lopes-maciel-rodan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Lopes-Maciel-Rodan syndrome"], "xref": ["EFO:0009904", "GARD:0027986", "MEDGEN:1379711", "OMIM:617435", "UMLS:C4479491"]}
{"category": ["biolink:Disease"], "description": "An inherited platelet disorder caused by a variation in the FLI1 gene, an ETS-family transcription factor required for megakaryocyte maturation and formation of platelet alpha- and dense granules. Affected individuals typically exhibit mild to moderate thrombocytopenia, enlarged platelets, and characteristic defects in platelet granules, including absent or markedly reduced dense granules and enlarged or fused alpha-granules, leading to abnormal secretion and impaired aggregation responses. The clinical phenotype ranges from asymptomatic to significant mucocutaneous bleeding, menorrhagia, or perioperative bleeding.", "id": "MONDO:0054577", "name": "Bleeding disorder, platelet-type, 21", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FLI1-related thrombocytopenia", "bleeding disorder, platelet-type, 21"], "xref": ["GARD:0016230", "MEDGEN:1386863", "OMIM:617443", "UMLS:C4479515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054581", "name": "Townes-brocks syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Townes-Brocks syndrome 1", "townes-brocks branchiootorenal-like syndrome"], "xref": ["GARD:0025951", "MEDGEN:1635275", "OMIM:107480", "UMLS:C4551481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054582", "name": "Townes-brocks syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Townes-Brocks syndrome 2"], "xref": ["GARD:0025952", "MEDGEN:1381939", "OMIM:617466", "UMLS:C4479534"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054588", "name": "Noonan syndrome-like disorder with loose anagen hair 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Noonan syndrome-like disorder with loose anagen hair 2"], "xref": ["DOID:0080693", "GARD:0025953", "MEDGEN:1376945", "NCIT:C176940", "OMIM:617506", "UMLS:C4479577"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.", "id": "MONDO:0054591", "name": "Stankiewicz-isidor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Stankiewicz-Isidor syndrome"], "xref": ["GARD:0027062", "MEDGEN:1375936", "OMIM:617516", "UMLS:C4479599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054593", "name": "Microcephaly 18, primary, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["microcephaly 18, primary, autosomal dominant"], "xref": ["DOID:0070295", "GARD:0016233", "MEDGEN:1391110", "OMIM:617520", "UMLS:C4479608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054601", "name": "Pituitary adenoma 5, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["pituitary adenoma 5, multiple types"], "xref": ["DOID:0112008", "GARD:0025954", "MEDGEN:1615593", "OMIM:617540", "UMLS:C4539685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054602", "name": "Gaze palsy, familial horizontal, with progressive scoliosis, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["gaze palsy, familial horizontal, with progressive scoliosis, 2"], "xref": ["GARD:0016234", "MEDGEN:1393733", "OMIM:617542", "UMLS:C4479640"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054615", "name": "Spermatogenic failure 18", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spermatogenic failure 18"], "xref": ["DOID:0070165", "GARD:0018402", "MEDGEN:1617309", "OMIM:617576", "UMLS:C4539783"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054636", "name": "Skraban-deardorff syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Skraban-Deardorff syndrome", "WDR26-Related Disorder"], "xref": ["GARD:0017953", "MEDGEN:1627555", "NORD:153230", "OMIM:617616", "Orphanet:513456", "UMLS:C4539927"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054637", "name": "Noonan syndrome-like disorder with loose anagen hair 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["NSLH1", "Noonan syndrome-like disorder with loose anagen hair 1", "Noonan syndrome-like with loose anagen hair 1"], "xref": ["DOID:0080692", "GARD:0025955", "MEDGEN:1379805", "NCIT:C176939", "OMIM:607721", "UMLS:C4478716"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054654", "name": "Combined oxidative phosphorylation deficiency 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 32"], "xref": ["DOID:0111492", "GARD:0025956", "MEDGEN:1617600", "OMIM:617664", "UMLS:C4540029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054665", "name": "Pituitary adenoma 3, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pituitary adenoma 3, multiple types", "pituitary adenoma 3, multiple types, somatic"], "xref": ["DOID:0112010", "GARD:0025957", "MEDGEN:1620824", "OMIM:617686", "UMLS:C4540135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054666", "name": "Ovarian dysgenesis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ovarian dysgenesis 5"], "xref": ["DOID:0080497", "GARD:0025958", "MEDGEN:1627972", "OMIM:617690", "UMLS:C4540141"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054669", "name": "Pontocerebellar hypoplasia, type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PCH11", "Pontocerebellar hypoplasia due to TBC1D23", "pontocerebellar hypoplasia, type 11"], "xref": ["DOID:0112324", "GARD:0018029", "MEDGEN:1627627", "OMIM:617695", "Orphanet:611247", "UMLS:C4540164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054677", "name": "Combined oxidative phosphorylation deficiency 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 33"], "xref": ["DOID:0111495", "GARD:0025959", "MEDGEN:1623699", "NCIT:C174440", "OMIM:617713", "UMLS:C4540209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054680", "name": "Epiphyseal dysplasia, multiple, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["epiphyseal dysplasia, multiple, 7", "multiple epiphyseal dysplasia type 7"], "xref": ["DOID:0070302", "GARD:0025960", "MEDGEN:1620874", "OMIM:617719", "Orphanet:647676", "UMLS:C4540251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054691", "name": "Immunodeficiency, common variable, 14", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["immunodeficiency, common variable, 14"], "xref": ["DOID:0081156", "GARD:0025961", "MEDGEN:1614928", "OMIM:617765", "Orphanet:696904", "UMLS:C4540380"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054695", "name": "Myopathy, centronuclear, 6, with fiber-type disproportion", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["myopathy, centronuclear, 6, with fiber-type disproportion"], "xref": ["DOID:0111221", "GARD:0016250", "MEDGEN:1627492", "OMIM:617760", "UMLS:C4540345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054696", "name": "Immunodeficiency 53", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["immunodeficiency 53"], "xref": ["DOID:0111992", "GARD:0027369", "MEDGEN:1612104", "OMIM:617585", "Orphanet:688594", "UMLS:C4539811"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054697", "name": "Immunodeficiency 11b with atopic dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111958", "MEDGEN:1627819", "NCIT:C176630", "OMIM:617638", "UMLS:C4539957"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054698", "name": "Proteasome-associated autoinflammatory syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PRAAS1", "proteasome-associated autoinflammatory syndrome 1", "proteasome-associated autoinflammatory syndrome 1 and digenic forms"], "xref": ["GARD:0003916", "MEDGEN:1648310", "NCIT:C176619", "OMIM:256040", "UMLS:C4746851"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054699", "name": "Proteasome-associated autoinflammatory syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["proteasome-associated autoinflammatory syndrome 3", "proteasome-associated autoinflammatory syndrome 3 and digenic forms"], "xref": ["DOID:0060916", "GARD:0018446", "MEDGEN:1648456", "OMIM:617591", "UMLS:C4747850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054700", "name": "Proteasome-associated autoinflammatory syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["proteasome-associated autoinflammatory syndrome 2"], "xref": ["DOID:0060914", "GARD:0018447", "MEDGEN:1648482", "OMIM:618048", "UMLS:C4747989"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054701", "name": "Kleefstra syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Kleefstra syndrome 2"], "xref": ["DOID:0080598", "GARD:0018382", "MEDGEN:1623903", "OMIM:617768", "UMLS:C4540395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054708", "name": "Retinitis pigmentosa 80", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0061111", "GARD:0016252", "MEDGEN:1619674", "OMIM:617781", "UMLS:C4540439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054716", "name": "Microcephaly 19, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0070281", "GARD:0016253", "MEDGEN:1616860", "OMIM:617800", "UMLS:C4540488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054722", "name": "Geleophysic dysplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111727", "GARD:0016255", "MEDGEN:1615724", "OMIM:617809", "UMLS:C4540511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054723", "name": "Spermatogenic failure 19", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spermatogenic failure 19"], "xref": ["DOID:0070170", "GARD:0018403", "MEDGEN:1614356", "OMIM:617592", "UMLS:C4539818"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054724", "name": "Spermatogenic failure 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spermatogenic failure 20"], "xref": ["DOID:0070166", "GARD:0018404", "MEDGEN:1621256", "OMIM:617593", "UMLS:C4539824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054725", "name": "Spermatogenic failure 21", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spermatogenic failure 21"], "xref": ["DOID:0070163", "MEDGEN:1617056", "OMIM:617644", "UMLS:C4539991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054726", "name": "Spermatogenic failure 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spermatogenic failure 22"], "xref": ["DOID:0070177", "GARD:0016245", "MEDGEN:1618089", "OMIM:617706", "UMLS:C4540179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054727", "name": "Spermatogenic failure 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spermatogenic failure 23"], "xref": ["DOID:0070181", "GARD:0016246", "MEDGEN:1626589", "OMIM:617707", "UMLS:C4540185"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054728", "name": "Spermatogenic failure 24", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spermatogenic failure 24"], "xref": ["DOID:0111929", "MEDGEN:1646063", "OMIM:617959", "UMLS:C4693751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054729", "name": "Spermatogenic failure 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spermatogenic failure 25"], "xref": ["DOID:0111920", "GARD:0016274", "MEDGEN:1646677", "OMIM:617960", "UMLS:C4693765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054730", "name": "Spermatogenic failure 26", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spermatogenic failure 26"], "xref": ["DOID:0111924", "MEDGEN:1644751", "OMIM:617961", "UMLS:C4693773"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054731", "name": "Spermatogenic failure 27", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["spermatogenic failure 27"], "xref": ["DOID:0111928", "GARD:0018405", "MEDGEN:1634748", "OMIM:617965", "UMLS:C4693784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054732", "name": "Spermatogenic failure 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["spermatogenic failure 28"], "xref": ["DOID:0111916", "GARD:0016290", "MEDGEN:1648494", "OMIM:618086", "UMLS:C4748117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054733", "name": "Spermatogenic failure 29", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["spermatogenic failure 29"], "xref": ["DOID:0111930", "MEDGEN:1648499", "OMIM:618091", "UMLS:C4748142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054736", "name": "Mosaic variegated aneuploidy syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["DOID:0080689", "GARD:0016240", "MEDGEN:1616382", "OMIM:617598", "UMLS:C4539839"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054737", "name": "Fraser syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fraser syndrome 1"], "xref": ["DOID:0111405", "GARD:0025962", "MEDGEN:1639061", "OMIM:219000", "UMLS:C4551480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054738", "name": "Fraser syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fraser syndrome 2"], "xref": ["DOID:0111407", "GARD:0025963", "MEDGEN:1624349", "OMIM:617666", "UMLS:C4540036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054739", "name": "Fraser syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Fraser syndrome 3"], "xref": ["DOID:0111406", "GARD:0025964", "MEDGEN:1621907", "OMIM:617667", "UMLS:C4540040"]}
{"category": ["biolink:Disease"], "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.", "id": "MONDO:0054740", "name": "Blepharocheilodontic syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDH1 blepharo-cheilo-odontic syndrome", "blepharo-cheilo-odontic syndrome caused by mutation in CDH1", "blepharocheilodontic syndrome 1"], "xref": ["DOID:0080345", "GARD:0025965", "MEDGEN:1632198", "OMIM:119580", "UMLS:C4551988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054741", "name": "Combined oxidative phosphorylation deficiency 34", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 34", "syndromic sensorineural deafness due to COXPD", "syndromic sensorineural deafness due to combined oxidative phosphorylation defect", "syndromic sensorineural hearing loss due to COXPD"], "xref": ["DOID:0111497", "GARD:0017799", "MEDGEN:1631307", "OMIM:617872", "Orphanet:457223", "UMLS:C4693450"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054742", "name": "Combined oxidative phosphorylation deficiency 35", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 35"], "xref": ["DOID:0111464", "GARD:0025966", "MEDGEN:1639653", "OMIM:617873", "UMLS:C4693466"]}
{"category": ["biolink:Disease"], "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.", "id": "MONDO:0054743", "name": "Polycystic liver disease 3 with or without kidney cysts", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["polycystic liver disease 3 with or without kidney cysts"], "xref": ["DOID:0060976", "GARD:0025967", "MEDGEN:1646969", "OMIM:617874", "UMLS:C4693472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054748", "name": "Fanconi anemia, complementation group s", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Fanconi anemia, complementation group S"], "xref": ["DOID:0060979", "GARD:0016264", "MEDGEN:1632414", "OMIM:617883", "UMLS:C4554406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054752", "name": "Multiple synostoses syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["multiple synostoses syndrome 4"], "xref": ["DOID:0081320", "GARD:0025968", "MEDGEN:1638842", "OMIM:617898", "UMLS:C4693531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054761", "name": "Microcephaly 20, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051031", "GARD:0016268", "MEDGEN:1641618", "OMIM:617914", "UMLS:C4693572"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054763", "name": "Neurodegeneration with brain iron accumulation 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["neurodegeneration with brain iron accumulation 7"], "xref": ["GARD:0025969", "MEDGEN:1647672", "OMIM:617916", "UMLS:C4693583"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054764", "name": "Neurodegeneration with brain iron accumulation 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodegeneration with brain iron accumulation 8"], "xref": ["GARD:0025970", "MEDGEN:1645224", "OMIM:617917", "UMLS:C4693587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054765", "name": "Amyloidosis, primary localized cutaneous, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0025971", "MEDGEN:1640641", "OMIM:617920", "UMLS:C4554421"]}
{"category": ["biolink:Disease"], "description": "Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.", "id": "MONDO:0054770", "name": "Orofaciodigital syndrome 18", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OFD18", "Ofds 18", "oral-facial-digital syndrome type 18", "oral-facial-digital syndrome with short stature and brachymesophalangy", "orofaciodigital syndrome type 18"], "xref": ["DOID:0060961", "GARD:0022069", "MEDGEN:1799326", "OMIM:617927", "Orphanet:508501", "UMLS:C5567903"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054771", "name": "Keratoconus 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["keratoconus 9"], "xref": ["GARD:0025972", "MEDGEN:1645093", "OMIM:617928", "UMLS:C4693660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054776", "name": "Epilepsy, familial focal, with variable foci 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081424", "GARD:0025973", "MEDGEN:1644614", "OMIM:617935", "UMLS:C4693694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054780", "name": "Elliptocytosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["anemia, neonatal hemolytic, fatal or near-fatal", "elliptocytosis 3", "elliptocytosis-3"], "xref": ["GARD:0016273", "MEDGEN:357139", "MESH:C566678", "OMIM:617948", "UMLS:C1866810"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054781", "name": "Combined oxidative phosphorylation deficiency 36", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["combined oxidative phosphorylation deficiency 36"], "xref": ["DOID:0111482", "GARD:0025974", "MEDGEN:1644927", "OMIM:617950", "UMLS:C4693722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054782", "name": "Leukodystrophy, hypomyelinating, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["leukodystrophy, hypomyelinating, 15"], "xref": ["DOID:0070398", "GARD:0025975", "MEDGEN:1633653", "OMIM:617951", "UMLS:C4693733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054785", "name": "Multiple mitochondrial dysfunctions syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MMDS6", "PMPCB deficiency", "multiple mitochondrial dysfunctions syndrome 6", "multiple mitochondrial dysfunctions syndrome type 6"], "xref": ["DOID:0070332", "GARD:0018004", "MEDGEN:1643082", "OMIM:617954", "Orphanet:569290", "UMLS:C4693741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054791", "name": "Leukodystrophy, hypomyelinating, 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["leukodystrophy, hypomyelinating, 16"], "xref": ["DOID:0070405", "GARD:0025976", "MEDGEN:1631337", "OMIM:617964", "UMLS:C4693779"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054794", "name": "Hydrocephalus, congenital, 3, with brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0025977", "MEDGEN:1648319", "OMIM:617967", "UMLS:C4747885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054801", "name": "Erythrocytosis, familial, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["erythrocytosis 6"], "xref": ["DOID:0111632", "GARD:0025978", "MEDGEN:1634191", "OMIM:617980", "UMLS:C4693822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054802", "name": "Erythrocytosis, familial, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["erythrocytosis 7"], "xref": ["DOID:0111631", "GARD:0025979", "MEDGEN:1642594", "OMIM:617981", "UMLS:C4693823"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054804", "name": "Microcephaly 21, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051032", "GARD:0016278", "MEDGEN:1646916", "OMIM:617983", "UMLS:C4693831"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054805", "name": "Microcephaly 22, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051033", "GARD:0016279", "MEDGEN:1635688", "OMIM:617984", "UMLS:C4693834"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054806", "name": "Microcephaly 23, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0051034", "GARD:0016280", "MEDGEN:1631589", "OMIM:617985", "UMLS:C4693843"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054813", "name": "Ehlers-danlos syndrome, classic-like, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["EDSCLL2", "Ehlers-Danlos syndrome, classic-like, 2"], "xref": ["DOID:0080732", "GARD:0017975", "MEDGEN:1632001", "OMIM:618000", "Orphanet:536532", "UMLS:C4693870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054817", "name": "Leukodystrophy, hypomyelinating, 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["leukodystrophy, hypomyelinating, 17"], "xref": ["DOID:0070404", "GARD:0025980", "MEDGEN:1644557", "OMIM:618006", "UMLS:C4693912"]}
{"category": ["biolink:Disease"], "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.", "id": "MONDO:0054831", "name": "Coffin-siris syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0112369", "GARD:0016287", "MEDGEN:1648281", "OMIM:618027", "UMLS:C4747954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054832", "name": "Corneal dystrophy, posterior polymorphous, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0080669", "GARD:0018215", "MEDGEN:1648359", "OMIM:618031", "UMLS:C4747961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054833", "name": "Charcot-marie-tooth disease, axonal, type 2dd", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CMT2DD"], "xref": ["DOID:0111558", "GARD:0017959", "MEDGEN:1648475", "OMIM:618036", "Orphanet:521414", "UMLS:C4747974"]}
{"category": ["biolink:Disease"], "description": "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.", "id": "MONDO:0054835", "name": "Classic dopamine transporter deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PKDYS1", "Parkinsonism-dystonia, infantile, 1", "classic DTDS"], "xref": ["DOID:0070489", "GARD:0025981", "MEDGEN:1814585", "NCIT:C129866", "OMIM:613135", "SCTID:722763000", "UMLS:C5700336"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054837", "name": "Intellectual disability, autosomal dominant 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["TLK2-Related Neurodevelopmental Disorder", "TLK2-related neurodevelopmental disorder", "TLK2-related syndrome", "intellectual developmental disorder, autosomal dominant 57", "intellectual disability, autosomal dominant 57"], "xref": ["DOID:0061031", "GARD:0025982", "MEDGEN:1648280", "OMIM:618050", "UMLS:C4748003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054838", "name": "Cardiomyopathy, familial hypertrophic 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0061102", "GARD:0025983", "MEDGEN:1648325", "OMIM:618052", "UMLS:C4748014"]}
{"category": ["biolink:Disease"], "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.", "id": "MONDO:0054842", "name": "Polycystic kidney disease 6 with or without polycystic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DNAJB11 polycystic kidney disease", "polycystic kidney disease 6 with or without polycystic liver disease", "polycystic kidney disease caused by mutation in DNAJB11"], "xref": ["DOID:0060951", "GARD:0025984", "MEDGEN:1648469", "OMIM:618061", "UMLS:C4748044"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054843", "name": "Ciliary dyskinesia, primary, 38", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111852", "GARD:0016288", "MEDGEN:1648465", "OMIM:618063", "UMLS:C4748052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054844", "name": "Pontocerebellar hypoplasia, type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pontocerebellar hypoplasia, type 1D"], "xref": ["DOID:0112323", "GARD:0016289", "MEDGEN:1648387", "OMIM:618065", "UMLS:C4748058"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054845", "name": "Developmental and epileptic encephalopathy, 66", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DEE66", "EIEE66", "developmental and epileptic encephalopathy 66", "epileptic encephalopathy, early infantile, 66"], "xref": ["DOID:0080446", "GARD:0025985", "MEDGEN:1648486", "OMIM:618067", "UMLS:C4748070"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054846", "name": "Epilepsy, familial adult myoclonic, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111696", "GARD:0025986", "MEDGEN:1648448", "OMIM:618074", "UMLS:C4748079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054847", "name": "Epilepsy, familial adult myoclonic, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111694", "GARD:0025987", "MEDGEN:1648435", "OMIM:618075", "UMLS:C4748080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054849", "name": "Inflammatory bowel disease 29", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["inflammatory bowel disease 29"], "xref": ["DOID:0112155", "MEDGEN:1648318", "OMIM:618077", "UMLS:C4748083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054850", "name": "Ovarian dysgenesis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ovarian dysgenesis 6"], "xref": ["DOID:0080498", "GARD:0018042", "MEDGEN:1648307", "OMIM:618078", "UMLS:C4748084"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054852", "name": "Peeling skin syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["peeling skin syndrome 6"], "xref": ["DOID:0070525", "GARD:0025988", "MEDGEN:1648406", "OMIM:618084", "UMLS:C4748093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054860", "name": "Hearing loss, autosomal recessive 110", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0111644", "GARD:0018150", "MEDGEN:1648377", "OMIM:618094", "UMLS:C4748162"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054861", "name": "Intellectual disability, autosomal recessive 63", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["intellectual disability, autosomal recessive 63"], "xref": ["DOID:0081224", "GARD:0016475", "MEDGEN:1648348", "OMIM:618095", "UMLS:C4748167"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054862", "name": "Premature ovarian failure 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["premature ovarian failure 15"], "xref": ["DOID:0080872", "GARD:0025989", "MEDGEN:1648369", "OMIM:618096", "UMLS:C4748170"]}
{"category": ["biolink:Disease"], "description": "A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.", "id": "MONDO:0054865", "name": "Encephalopathy due to mitochondrial and peroxisomal fission defect", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["encephalopathy due to defective mitochondrial and peroxisomal fission", "encephalopathy due to mitochondrial and peroxisomal fission defect"], "xref": ["GARD:0022192", "MEDGEN:1814479", "OMIMPS:614388", "Orphanet:527276", "UMLS:C5681458"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054866", "name": "Sudden arrhythmia death syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["sudden arrhythmic death syndrome"], "xref": ["MEDGEN:439428", "SCTID:735686002", "UMLS:C2721586", "icd11.foundation:1833795233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054867", "name": "Paraomphalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0004218", "MEDGEN:419800", "MESH:C537170", "UMLS:C2931431"]}
{"category": ["biolink:Disease"], "description": "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.", "id": "MONDO:0054868", "name": "Meconium ileus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["meconium ileus"], "xref": ["MEDGEN:473705", "MESH:D000074270", "NCIT:C98979", "SCTID:206523001", "UMLS:C2939175"]}
{"category": ["biolink:Disease"], "id": "MONDO:0054869", "name": "Nondystrophic myotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0009852", "MEDGEN:419721", "MESH:C536245", "UMLS:C2931139"]}
{"category": ["biolink:Disease"], "description": "A cause of male infertility characterized by X-linked inheritance in which only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop) and there are not any sperm cells present in the seminiferous tubules.", "id": "MONDO:0056795", "name": "X-linked spermatogenic failure 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Del Castillo syndrome", "Germinal cell aplasia", "SPGFX1", "Sertoli cell-only syndrome", "spermatogenic failure, X-linked, type 1"], "xref": ["DOID:0070189", "GARD:0008406", "ICD9:752.89", "MEDGEN:235163", "MESH:D054331", "NCIT:C168988", "OMIM:305700", "SCTID:73465006", "UMLS:C1384583"]}
{"category": ["biolink:Disease"], "description": "Renal damage and impaired renal function secondary to urinary tract obstruction.", "id": "MONDO:0056796", "name": "Obstructive nephropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["obstructive nephropathy"], "xref": ["DOID:0070314", "ICD9:593.89", "MEDGEN:508456", "NCIT:C120902", "SCTID:86249007", "UMLS:C0149939", "icd11.foundation:848128884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0056797", "name": "Neurodevelopmental disorder with midbrain and hindbrain malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEDMHM", "neurodevelopmental disorder with midbrain and hindbrain malformations"], "xref": ["DOID:0080312", "MEDGEN:1385580", "OMIM:617523", "UMLS:C4479613"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the vermiform appendix.", "id": "MONDO:0056798", "name": "Disorder of appendix", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["appendiceal disease", "disease of appendix", "disease of vermiform appendix", "disease or disorder of vermiform appendix", "disorder of appendix", "disorder of vermiform appendix", "vermiform appendix disease", "vermiform appendix disease or disorder"], "xref": ["DOID:60000", "EFO:0009542", "ICD10CM:K35-K38", "ICD9:543.9", "MEDGEN:540821", "SCTID:18526009", "UMLS:C0267613"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the layer of synovial tissue.", "id": "MONDO:0056799", "name": "Synovium disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of layer of synovial tissue", "disease or disorder of layer of synovial tissue", "disorder of layer of synovial tissue", "disorder of synovium", "layer of synovial tissue disease", "layer of synovial tissue disease or disorder"], "xref": ["ICD9:727.89", "ICD9:727.9", "MEDGEN:538212", "SCTID:3519007", "UMLS:C0263945"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that involves the synovial bursa.", "id": "MONDO:0056802", "name": "Synovial bursa disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of synovial bursa", "disease or disorder of synovial bursa", "disorder of bursa", "disorder of synovial bursa", "synovial bursa disease or disorder"], "xref": ["MEDGEN:538213", "SCTID:10597006", "UMLS:C0263946"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of sulfur compound metabolic process.", "id": "MONDO:0056803", "name": "Sulfur metabolism disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disorder of sulfur compound metabolic process", "disorder of sulfur metabolic process", "disorder of sulfur metabolism", "disorder of sulphur compound metabolic process", "disorder of sulphur metabolic process", "disorder of sulphur metabolism", "sulfur compound metabolic process disease", "sulphur compound metabolic process disease"], "xref": ["MEDGEN:688004", "SCTID:123809005", "UMLS:C1263724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0056804", "name": "Benign neoplasm of peripheral nervous system", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080320", "MEDGEN:199653", "UMLS:C0751427"]}
{"category": ["biolink:Disease"], "description": "A benign granular cell tumor that involves the nerve.", "id": "MONDO:0056805", "name": "Benign peripheral nerve granular cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign granular cell neoplasm of peripheral nerve", "benign granular cell neoplasm of the peripheral nerve", "benign granular cell tumor of nerve", "benign granular cell tumor of peripheral nerve", "benign granular cell tumor of the peripheral nerve", "benign granular cell tumour of nerve", "benign granular cell tumour of peripheral nerve", "benign granular cell tumour of the peripheral nerve", "benign peripheral nerve granular cell neoplasm", "benign peripheral nerve granular cell tumor", "nerve benign granular cell tumor", "nerve benign granular cell tumour"], "xref": ["GARD:0025990", "MEDGEN:272363", "NCIT:C5502", "UMLS:C1332530"]}
{"category": ["biolink:Disease"], "description": "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.", "id": "MONDO:0056806", "name": "Non-small cell squamous lung carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["non-small cell squamous lung cancer", "non-small cell squamous lung carcinoma", "squamous non-small cell lung carcinoma"], "xref": ["DOID:0080521", "MEDGEN:1383559", "NCIT:C133254", "SCTID:723301009", "UMLS:C4509816"]}
{"category": ["biolink:Disease"], "description": "Breast carcinoma that does not respond to hormone therapy.", "id": "MONDO:0056813", "name": "Hormone-resistant breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hormone-refractory breast cancer", "hormone-resistant breast cancer", "hormone-resistant breast carcinoma"], "xref": ["MEDGEN:1631521", "NCIT:C114932", "UMLS:C4049259"]}
{"category": ["biolink:Disease"], "description": "Prostate carcinoma that does not respond to hormone therapy.", "id": "MONDO:0056814", "name": "Hormone-resistant prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hormone-resistant prostate cancer", "hormone-resistant prostate carcinoma"], "xref": ["MEDGEN:858471", "NCIT:C114933", "UMLS:C3898877"]}
{"category": ["biolink:Disease"], "description": "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.", "id": "MONDO:0056815", "name": "Liver adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["liver adenosquamous cancer", "liver adenosquamous carcinoma"], "xref": ["GARD:0025991", "MEDGEN:858180", "NCIT:C118630", "UMLS:C3898586"]}
{"category": ["biolink:Disease"], "description": "A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.", "id": "MONDO:0056816", "name": "Vulvar neuroendocrine carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["mammalian vulva neuroendocrine carcinoma", "neuroendocrine carcinoma of mammalian vulva", "vulvar Neuroendocrine cancer", "vulvar Neuroendocrine carcinoma", "vulvar high grade Neuroendocrine carcinoma", "vulvar high grade Neuroendocrine neoplasm"], "xref": ["GARD:0025992", "MEDGEN:925534", "NCIT:C128243", "UMLS:C4288002"]}
{"category": ["biolink:Disease"], "description": "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.", "id": "MONDO:0056817", "name": "Rectal adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["rectal adenosquamous cancer", "rectal adenosquamous carcinoma"], "xref": ["GARD:0025993", "MEDGEN:313658", "NCIT:C43594", "UMLS:C1709865"]}
{"category": ["biolink:Disease"], "description": "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.", "id": "MONDO:0056818", "name": "Skin adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["skin adenosquamous cancer", "skin adenosquamous carcinoma"], "xref": ["MEDGEN:313707", "NCIT:C54250", "UMLS:C1710103"]}
{"category": ["biolink:Disease"], "description": "A carcinoma arising from the nasal cavity or paranasal sinuses.", "id": "MONDO:0056819", "name": "Nasal cavity and paranasal sinus carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["nasal cavity and paranasal sinus cancer", "nasal cavity and paranasal sinus carcinoma", "paranasal sinus and nasal cavity cancer", "sinonasal carcinoma"], "xref": ["GARD:0007650", "MEDGEN:328032", "NCIT:C54293", "UMLS:C1710095"]}
{"category": ["biolink:Disease"], "description": "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.", "id": "MONDO:0056820", "name": "Nasal cavity and paranasal sinus neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["nasal cavity and paranasal sinus neoplasm"], "xref": ["MEDGEN:235362", "NCIT:C7336", "UMLS:C1334925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0056822", "name": "Amyotonia congenita", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["amyotonia congenita"], "xref": ["GARD:0005798", "MEDGEN:8042", "OMIM:205000", "UMLS:C0002735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060455", "name": "X-linked congenital hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["hemolytic anemia, congenital, X-linked, X-linked recessive"], "xref": ["DOID:0111846", "GARD:0025994", "MEDGEN:1648376", "OMIM:301015", "UMLS:C4746970"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060456", "name": "Cerebral sclerosis, diffuse, scholz type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cerebral sclerosis, diffuse, scholz type"], "xref": ["MEDGEN:335049", "MESH:C564449", "OMIM:302700", "UMLS:C1844884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060457", "name": "Autoinflammation with arthritis and dyskeratosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1380109", "OMIM:617388", "UMLS:C4479278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060486", "name": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["arthrogryposis multiplex congenita, neurogenic, with myelin defect"], "xref": ["DOID:0080978", "GARD:0018566", "MEDGEN:1373185", "OMIM:617468", "UMLS:C4479539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060489", "name": "46,xx sex reversal 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46, XX sex reversal 4"], "xref": ["DOID:0111764", "GARD:0025995", "MEDGEN:1373282", "OMIM:617480", "UMLS:C4479552"]}
{"category": ["biolink:Disease"], "description": "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.", "id": "MONDO:0060490", "name": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"], "xref": ["GARD:0017985", "MEDGEN:1380860", "OMIM:617481", "Orphanet:544469", "UMLS:C4479566"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060491", "name": "Neurodevelopmental disorder with involuntary movements", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["GNAO1-related developmental delay-seizures-movement disorder spectrum", "GNAO1-related spectrum", "neurodevelopmental disorder with involuntary movements"], "xref": ["DOID:0112276", "GARD:0016232", "ICD10CM:F84.8", "MEDGEN:1374697", "OMIM:617493", "Orphanet:592564", "UMLS:C4479569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060496", "name": "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neurodevelopmental disorder with hypotonia, neuropathy, and deafness"], "xref": ["GARD:0027987", "MEDGEN:1382171", "OMIM:617519", "UMLS:C4479603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060502", "name": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"], "xref": ["GARD:0017960", "MEDGEN:1380260", "OMIM:617527", "Orphanet:521426", "UMLS:C4479631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060507", "name": "Retinal dystrophy with or without macular staphyloma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["retinal dystrophy with macular staphyloma", "retinal dystrophy with or without macular staphyloma"], "xref": ["GARD:0025996", "MEDGEN:1381980", "OMIM:617547", "Orphanet:653709", "UMLS:C4479651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060510", "name": "Cohen-gibson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Cohen-Gibson syndrome"], "xref": ["GARD:0016235", "MEDGEN:1386939", "OMIM:617561", "Orphanet:659396", "UMLS:C4479654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060527", "name": "Maleylacetoacetate isomerase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["maleylacetoacetate isomerase deficiency"], "xref": ["MEDGEN:713903", "OMIM:617596", "UMLS:C1291607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060532", "name": "Congenital heart defects and skeletal malformations syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital heart defects and skeletal malformations syndrome", "marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"], "xref": ["GARD:0025997", "MEDGEN:1618340", "OMIM:617602", "Orphanet:643503", "UMLS:C4539857"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060533", "name": "Microcephaly, short stature, and limb abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly, short stature, and limb abnormalities"], "xref": ["DOID:0081431", "GARD:0018655", "MEDGEN:1613834", "OMIM:617604", "Orphanet:572773", "UMLS:C4539873"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060549", "name": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"], "xref": ["DOID:0112359", "GARD:0025998", "MEDGEN:1612119", "OMIM:617641", "Orphanet:656130", "UMLS:C4539968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060550", "name": "Polydactyly, postaxial, type a7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0025999", "MEDGEN:1627079", "OMIM:617642", "UMLS:C4539976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060551", "name": "Cerebellar atrophy, developmental delay, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["cerebellar atrophy, developmental delay, and seizures"], "xref": ["MEDGEN:1626119", "OMIM:617643", "UMLS:C4539985"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060554", "name": "Vertebral, cardiac, renal, and limb defects syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["vertebral, cardiac, renal, and limb defects syndrome 1"], "xref": ["GARD:0018508", "MEDGEN:1621146", "OMIM:617660", "UMLS:C4540004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060555", "name": "Vertebral, cardiac, renal, and limb defects syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["vertebral, cardiac, renal, and limb defects syndrome 2"], "xref": ["GARD:0018509", "MEDGEN:1624065", "OMIM:617661", "UMLS:C4540014"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060556", "name": "Joint laxity, short stature, and myopia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["joint laxity, short stature, and myopia"], "xref": ["GARD:0017963", "MEDGEN:1621331", "OMIM:617662", "Orphanet:527450", "UMLS:C4540020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060562", "name": "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"], "xref": ["GARD:0027988", "MEDGEN:1624694", "OMIM:617668", "Orphanet:447795", "UMLS:C4540052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060564", "name": "Helix syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HELIX", "HELIX syndrome", "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"], "xref": ["GARD:0017967", "MEDGEN:1621482", "OMIM:617671", "Orphanet:528105", "UMLS:C4522164"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060568", "name": "Pilarowski-bjornsson syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Pilarowski-Bjornsson syndrome"], "xref": ["GARD:0017970", "MEDGEN:1619150", "OMIM:617682", "Orphanet:529965", "UMLS:C4540131"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060577", "name": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with microcephaly, ataxia, and seizures"], "xref": ["GARD:0022576", "MEDGEN:1613354", "OMIM:617709", "UMLS:C4540188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060578", "name": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["mitochondrial tryptophanyl-tRNA synthetase deficiency", "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"], "xref": ["GARD:0018012", "MEDGEN:1619876", "OMIM:617710", "Orphanet:572798", "UMLS:C4540192"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.", "id": "MONDO:0060582", "name": "Auditory neuropathy-optic atrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ANOA", "auditory neuropathy and optic atrophy", "multiple mitochondrial dysfunctions syndrome 9A"], "xref": ["GARD:0017983", "MEDGEN:1623572", "OMIM:617717", "Orphanet:542585", "UMLS:C4521678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060583", "name": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia", "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"], "xref": ["DOID:0112004", "MEDGEN:1618052", "OMIM:617718", "UMLS:C4540232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060585", "name": "Neuronopathy, distal hereditary motor, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0111212", "GARD:0026000", "MEDGEN:1617571", "OMIM:617721", "UMLS:C4540265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060589", "name": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["facial palsy, congenital, with ptosis and velopharyngeal dysfunction", "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction"], "xref": ["MEDGEN:1623077", "OMIM:617732", "UMLS:C4540277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060591", "name": "Immunodeficiency, developmental delay, and hypohomocysteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["immunodeficiency, developmental delay, and hypohomocysteinemia"], "xref": ["MEDGEN:1616061", "OMIM:617744", "UMLS:C4540293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060592", "name": "Sweeney-cox syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Sweeney-Cox syndrome"], "xref": ["DOID:0080538", "MEDGEN:1625659", "OMIM:617746", "UMLS:C4540299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060596", "name": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"], "xref": ["DOID:0070514", "GARD:0018513", "MEDGEN:1627464", "OMIM:617755", "Orphanet:686482", "UMLS:C4540327"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060611", "name": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"], "xref": ["GARD:0026001", "MEDGEN:1615364", "OMIM:617780", "Orphanet:658813", "UMLS:C4540434"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060621", "name": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"], "xref": ["EFO:0009644", "MEDGEN:1615361", "OMIM:617802", "UMLS:C4540493"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility", "id": "MONDO:0060622", "name": "Neurodevelopmental disorder with severe motor impairment and absent language", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["DHX30-related complex neurodevelopmental disorder", "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome", "neurodevelopmental disorder with severe motor impairment and absent language"], "xref": ["GARD:0013608", "MEDGEN:1622162", "OMIM:617804", "Orphanet:647788", "UMLS:C4540496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060624", "name": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1621102", "OMIM:617807", "UMLS:C4540498"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.", "id": "MONDO:0060627", "name": "Glycosylphosphatidylinositol biosynthesis defect 15", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["glycosylphosphatidylinositol biosynthesis defect 15"], "xref": ["GARD:0017969", "MEDGEN:1615160", "OMIM:617810", "Orphanet:529665", "UMLS:C4540520"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060629", "name": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"], "xref": ["EFO:0009300", "GARD:0027989", "MEDGEN:1646665", "OMIM:617820", "UMLS:C4693325"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060631", "name": "Alkuraya-kucinskas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Alkuraya-Kucinskas syndrome"], "xref": ["DOID:0111555", "GARD:0018022", "MEDGEN:1634304", "OMIM:617822", "Orphanet:610569", "UMLS:C4693347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060640", "name": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"], "xref": ["DOID:0060934", "MEDGEN:1637443", "OMIM:617862", "UMLS:C4693390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060641", "name": "Neurodevelopmental disorder with or without seizures and gait abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with or without seizures and gait abnormalities"], "xref": ["MEDGEN:1645968", "OMIM:617864", "UMLS:C4693391"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060642", "name": "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"], "xref": ["MEDGEN:1647077", "OMIM:617865", "UMLS:C4693405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060650", "name": "Leber congenital amaurosis with early-onset deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Leber congenital amaurosis with early-onset deafness"], "xref": ["DOID:0112240", "GARD:0026002", "MEDGEN:1646810", "OMIM:617879", "UMLS:C4693498"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060659", "name": "Neurodevelopmental disorder with poor language and loss of hand skills", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurodevelopmental disorder with poor language and loss of hand skills"], "xref": ["MEDGEN:1637031", "OMIM:617903", "UMLS:C4693546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060662", "name": "Diamond-blackfan anemia-like", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Diamond-Blackfan anemia-like"], "xref": ["MEDGEN:1633207", "OMIM:617911", "UMLS:C4693556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060663", "name": "Congenital heart defects, multiple types, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1636547", "OMIM:617912", "UMLS:C4693563"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060664", "name": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"], "xref": ["DOID:0081263", "MEDGEN:1634867", "OMIM:617913", "UMLS:C4693567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060666", "name": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"], "xref": ["MEDGEN:1647427", "OMIM:617915", "UMLS:C4693578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060677", "name": "Chromosome 1p35 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["chromosome 1p35 deletion syndrome"], "xref": ["GARD:0026003", "MEDGEN:1632676", "OMIM:617930", "UMLS:C4693669"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060688", "name": "Hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency"], "xref": ["MEDGEN:326643", "OMIM:617953", "UMLS:C1840059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060690", "name": "Phenytoin toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["phenytoin toxicity"], "xref": ["MEDGEN:101775", "OMIM:617955", "UMLS:C0149969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060702", "name": "Spondyloepimetaphyseal dysplasia, di rocco type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026004", "MEDGEN:1646454", "OMIM:617974", "UMLS:C4693799"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060704", "name": "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"], "xref": ["GARD:0027990", "MEDGEN:1633724", "OMIM:617977", "UMLS:C4693816"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060707", "name": "Ververi-brady syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["VERBRAS1", "Ververi-Brady syndrome 1"], "xref": ["GARD:0018015", "OMIM:617982", "Orphanet:580940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060711", "name": "Jaberi-elahi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["Jaberi-Elahi syndrome"], "xref": ["MEDGEN:1647359", "OMIM:617988", "UMLS:C4693848"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060713", "name": "Deafness, congenital heart defects, and posterior embryotoxon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:355614", "MESH:C566604", "OMIM:617992", "UMLS:C1866053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060714", "name": "Tumoral calcinosis, hyperphosphatemic, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["tumoral calcinosis, hyperphosphatemic, familial, 2"], "xref": ["EFO:0009383", "GARD:0016281", "MEDGEN:1640532", "OMIM:617993", "UMLS:C4693863"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060715", "name": "Tumoral calcinosis, hyperphosphatemic, familial, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["tumoral calcinosis, hyperphosphatemic, familial, 3"], "xref": ["EFO:0009384", "GARD:0016282", "MEDGEN:1638917", "OMIM:617994", "UMLS:C4693864"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060720", "name": "Congenital disorder of glycosylation with defective fucosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["congenital disorder of glycosylation with defective fucosylation"], "xref": ["GARD:0026005", "MEDGEN:1647704", "OMIMPS:618005", "UMLS:C4693905"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060724", "name": "Glycosylphosphatidylinositol biosynthesis defect 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glycosylphosphatidylinositol biosynthesis defect 17"], "xref": ["GARD:0026006", "MEDGEN:1648437", "OMIM:618010", "UMLS:C4747891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060729", "name": "Protoporphyria, erythropoietic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["protoporphyria, erythropoietic, 2"], "xref": ["GARD:0026007", "MEDGEN:1645733", "OMIM:618015", "UMLS:C4693947"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060732", "name": "Tetraamelia syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["tetraamelia syndrome 2"], "xref": ["DOID:0112193", "GARD:0016286", "MEDGEN:1648284", "OMIM:618021", "UMLS:C4747923"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060733", "name": "Humerofemoral hypoplasia with radiotibial ray deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["humerofemoral hypoplasia with radiotibial ray deficiency"], "xref": ["MEDGEN:1648393", "OMIM:618022", "UMLS:C4747940"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060745", "name": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["intellectual developmental disorder with or without epilepsy or cerebellar ataxia"], "xref": ["MEDGEN:1648354", "OMIM:618060", "UMLS:C4748041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060752", "name": "Neurodevelopmental disorder with spasticity and poor growth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with spasticity and poor growth"], "xref": ["DOID:0070421", "MEDGEN:1648309", "OMIM:618076", "UMLS:C4748081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060758", "name": "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"], "xref": ["GARD:0026008", "MEDGEN:1648308", "OMIM:618087", "UMLS:C4748120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060759", "name": "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome", "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"], "xref": ["DOID:0081327", "GARD:0022396", "MEDGEN:1648345", "OMIM:618088", "Orphanet:597623", "UMLS:C4748127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060760", "name": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0061129", "MEDGEN:1648498", "OMIM:618089", "UMLS:C4748135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060761", "name": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"], "xref": ["MEDGEN:1648487", "OMIM:618090", "UMLS:C4748137"]}
{"category": ["biolink:Disease"], "description": "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.", "id": "MONDO:0060763", "name": "Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["BCL11B-related BAFopathy", "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities"], "xref": ["GARD:0027142", "MEDGEN:1648327", "OMIM:618092", "Orphanet:662829", "UMLS:C4748152"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060764", "name": "Tetraamelia syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["tetraamelia syndrome 1"], "xref": ["DOID:0112192", "GARD:0015238", "MEDGEN:860705", "OMIM:273395", "UMLS:C4012268"]}
{"category": ["biolink:Disease"], "description": "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.", "id": "MONDO:0060765", "name": "Fibroepithelial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["fibroepithelial polyp", "fibropapilloma, benign"], "xref": ["MEDGEN:1849971", "NCIT:C3337", "UMLS:C5848070"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.", "id": "MONDO:0060766", "name": "Anal polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anal polyp", "polyp of anus", "polyp of the anus"], "xref": ["ICD10CM:K62.0", "MEDGEN:75637", "NCIT:C3957", "SCTID:88580009", "UMLS:C0267573", "icd11.foundation:2038426249"]}
{"category": ["biolink:Disease"], "description": "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.", "id": "MONDO:0060768", "name": "Gingival fibroepithelial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroepithelial polyp of gingiva", "fibroepithelial polyp of gum", "fibroepithelial polyp of the gingiva", "fibroepithelial polyp of the gum", "gingival fibroepithelial polyp", "gum fibroepithelial polyp"], "xref": ["MEDGEN:98314", "NCIT:C4693", "SCTID:235001002", "UMLS:C0399441", "icd11.foundation:1520492305"]}
{"category": ["biolink:Disease"], "description": "A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.", "id": "MONDO:0060774", "name": "Vaginal fibroepithelial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fibroepithelial polyp of the vagina", "fibroepithelial polyp of vagina", "vaginal fibroepithelial polyp", "vaginal fibroepithelial stromal polyp"], "xref": ["MEDGEN:152894", "NCIT:C4948", "UMLS:C0750071"]}
{"category": ["biolink:Disease"], "description": "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.", "id": "MONDO:0060777", "name": "Cervical fibroepithelial polyp", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Cervical fibroepithelial polyp", "uterine cervix fibroepithelial polyp"], "xref": ["MEDGEN:308945", "NCIT:C40200", "UMLS:C1516413"]}
{"category": ["biolink:Disease"], "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.", "id": "MONDO:0060778", "name": "Adult fanconi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "xref": ["GARD:0026009", "MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"]}
{"category": ["biolink:Disease"], "description": "Fanconi Syndrome caused by exposure to noxious agents.", "id": "MONDO:0060779", "name": "Acquired fanconi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["acquired Fanconi syndrome"], "xref": ["GARD:0026010", "MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0060781", "name": "Preeyasombat-varavithya syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0004476", "MEDGEN:443919", "MESH:C535269", "UMLS:C2930859"]}
{"category": ["biolink:Disease"], "description": "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.", "id": "MONDO:0060782", "name": "Premalignant hematological system disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["premalignant hematologic condition"], "xref": ["GARD:0026011", "MEDGEN:233342", "NCIT:C27274", "UMLS:C1335471"]}
{"category": ["biolink:Disease"], "description": "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.", "id": "MONDO:0060783", "name": "Classic congenital adrenal hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["classic CAH", "classic congenital adrenal hyperplasia"], "xref": ["GARD:0026012", "MEDGEN:1390311", "NCIT:C131423", "UMLS:C4329672"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.", "id": "MONDO:0100000", "name": "Med12-related intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["MED12 X-linked syndromic intellectual disability", "MED12-related intellectual disability syndrome", "X-linked syndromic intellectual disability caused by mutation in MED12"], "xref": ["GARD:0026013"]}
{"category": ["biolink:Disease"], "description": "An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).", "id": "MONDO:0100001", "name": "Alpha-gal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AGS", "allergic galactose-alpha-1,3-galactose disease", "alpha-gal allergy", "red meat allergy", "tick bite meat allergy"], "xref": ["DOID:0070659", "MEDGEN:1778444", "UMLS:C5442181"]}
{"category": ["biolink:Disease"], "description": "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.", "id": "MONDO:0100002", "name": "Food protein-induced allergic proctocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FPIPC"], "xref": ["MEDGEN:1663071", "UMLS:C4750318"]}
{"category": ["biolink:Disease"], "description": "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).", "id": "MONDO:0100004", "name": "Mast cell activation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MACS", "disorder of mast cell activation", "mast cell activation disease"], "xref": ["GARD:0012981", "MEDGEN:1698540", "MESH:D000090267", "UMLS:C5200989"]}
{"category": ["biolink:Disease"], "description": "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.", "id": "MONDO:0100006", "name": "Secondary mast cell activation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["secondary MACS"], "xref": ["GARD:0026014", "ICD10CM:D89.43", "MEDGEN:1843472", "UMLS:C4267895"]}
{"category": ["biolink:Disease"], "description": "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.", "id": "MONDO:0100008", "name": "Food protein-induced enterocolitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FPIES", "delayed food allergy"], "xref": ["ICD10CM:K52.21", "MEDGEN:1623554", "UMLS:C4268599", "icd11.foundation:1729235847"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.", "id": "MONDO:0100009", "name": "Structural congenital heart disease, multiple types - gata4", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "A disease involving the tendon.", "id": "MONDO:0100010", "name": "Disease of the tendon", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease of tendon", "disease or disorder of tendon", "disorder of tendon", "tendinopathy", "tendon disease", "tendon disease or disorder"], "xref": ["EFO:1001434", "MEDGEN:508839", "MESH:D052256", "SCTID:68172002", "UMLS:C0151936"]}
{"category": ["biolink:Disease"], "description": "The chronic degeneration of a tendon without inflammation.", "id": "MONDO:0100011", "name": "Tendinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:293673", "SCTID:724152009", "UMLS:C1568363"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.", "id": "MONDO:0100012", "name": "Paratenonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "Paratenonitis associated with intratendinous degeneration.", "id": "MONDO:0100013", "name": "Paratenonitis with tendinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.", "id": "MONDO:0100014", "name": "Autoimmune retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AIR", "autoimmune disease of retina", "retina autoimmune disease"], "xref": ["MEDGEN:1388012", "SCTID:724809006", "UMLS:C3203657", "icd11.foundation:1969888129"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100015", "name": "Adult-onset segmental dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["DYT-GNAL", "an adult-onset, focal or segmental, isolated dystonia that is characterised by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).", "an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)."]}
{"category": ["biolink:Disease"], "description": "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.", "id": "MONDO:0100016", "name": "Early-onset generalized dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DYT-KMT2B", "early-onset, generalised dystonia with mild syndromic features", "early-onset, generalized dystonia with mild syndromic features"], "xref": ["GARD:0013671"]}
{"category": ["biolink:Disease"], "description": "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).", "id": "MONDO:0100017", "name": "Pityriasis rubra pilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:9212", "GARD:0007401", "ICD10CM:L44.0", "ICD9:696.4", "MEDGEN:45939", "MESH:D010916", "NCIT:C85014", "NORD:1582", "SCTID:3755001", "UMLS:C0032027", "icd11.foundation:2048594962"]}
{"category": ["biolink:Disease"], "description": "A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.", "id": "MONDO:0100018", "name": "Adult onset pityriasis rubra pilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult onset PRP"], "xref": ["GARD:0026015"]}
{"category": ["biolink:Disease"], "description": "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.", "id": "MONDO:0100019", "name": "Echs1-related paroxysmal dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia"]}
{"category": ["biolink:Disease"], "description": "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.", "id": "MONDO:0100020", "name": "Atypical childhood epilepsy with centrotemporal spikes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["atonic-benign childhood epilepsy with centrotemporal spikes", "atypical benign partial epilepsy of childhood", "pseudo-Lennox syndrome"]}
{"category": ["biolink:Disease"], "description": "A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.", "id": "MONDO:0100021", "name": "Photosensitive occipital lobe epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_protected", "mondo:rare"], "synonym": ["POLE"], "xref": ["MEDGEN:1871245", "UMLS:C5967452"]}
{"category": ["biolink:Disease"], "description": "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.", "id": "MONDO:0100022", "name": "Neonatal/infantile epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["Orphanet:693802"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.", "id": "MONDO:0100023", "name": "Self-limited familial neonatal epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected"], "synonym": ["self-limited familial and non-familial neonatal seizures"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.", "id": "MONDO:0100024", "name": "Self-limited familial infantile epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SeLFIE", "self-limited familial and non-familial infantile seizures"], "xref": ["GARD:0027273"]}
{"category": ["biolink:Disease"], "description": "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.", "id": "MONDO:0100026", "name": "Myoclonic encephalopathy in non-progressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.", "id": "MONDO:0100028", "name": "Immune epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["MEDGEN:1371634", "UMLS:C4510729"]}
{"category": ["biolink:Disease"], "description": "An immune epilepsy where the underlying cause is antibody mediated.", "id": "MONDO:0100029", "name": "Antibody mediated epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected"]}
{"category": ["biolink:Disease"], "description": "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.", "id": "MONDO:0100033", "name": "Metabolic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1843497", "UMLS:C4524099"]}
{"category": ["biolink:Disease"], "description": "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.", "id": "MONDO:0100034", "name": "Cerebral folate deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026019", "MEDGEN:893131", "UMLS:C4022901", "icd11.foundation:1137222547"]}
{"category": ["biolink:Disease"], "description": "A type of epilepsy that is conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.", "id": "MONDO:0100035", "name": "Structural epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:1843494", "UMLS:C4524097"]}
{"category": ["biolink:Disease"], "description": "A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.", "id": "MONDO:0100037", "name": "Juvenile onset pityriasis rubra pilaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["juvenile onset PRP"], "xref": ["GARD:0026020"]}
{"category": ["biolink:Disease"], "description": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).", "id": "MONDO:0100038", "name": "Complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["complex neurodevelopmental disorder"], "xref": ["GARD:0017965", "MEDGEN:1800189", "Orphanet:528084", "UMLS:C5568766"]}
{"category": ["biolink:Disease"], "description": "A monogenic disease that has material basis in mutation in the CDKL5 gene.", "id": "MONDO:0100039", "name": "Cdkl5 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CDKL5 Deficiency Disorder", "CDKL5 disorder", "CDKL5 inherited genetic disease", "inherited genetic disease caused by mutation in CDKL5"], "xref": ["GARD:0026021", "NORD:904"]}
{"category": ["biolink:Disease"], "description": "A monogenic disease that has material basis in mutation in the FOXG1 gene.", "id": "MONDO:0100040", "name": "Foxg1 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_subtype_of_a_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FOXG1 disorder", "FOXG1 inherited genetic disease", "FOXG1 syndrome", "FOXG1 syndrome due to intragenic alteration", "FOXG1-related epileptic-dyskinetic encephalopathy", "Rett syndrome, congenital variant", "inherited genetic disease caused by mutation in FOXG1"], "xref": ["DOID:0070657", "GARD:0026022", "ICD10CM:F84.8", "MEDGEN:462055", "NCIT:C176903", "OMIM:613454", "Orphanet:561854", "Orphanet:598164", "UMLS:C3150705"]}
{"category": ["biolink:Disease"], "description": "A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.", "id": "MONDO:0100041", "name": "Secondary trimethylaminuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100042", "name": "Cardiac conduction defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:78114", "NCIT:C78245", "OMIM:115080", "UMLS:C0264886"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100044", "name": "Acrofrontofacionasal dysostosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AFFN dysostosis 1", "acrofrontofacionasal dysostosis 1", "acrofrontofacionasal dysostosis type 1"], "xref": ["GARD:0026024", "MEDGEN:1632008", "MESH:C538186", "OMIM:201180", "UMLS:C4551987"]}
{"category": ["biolink:Disease"], "description": "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.", "id": "MONDO:0100050", "name": "Usher syndrome, type 1d/f", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Usher syndrome, type 1D/F, CDH23/PCDH15, digenic"], "xref": ["GARD:0026025"]}
{"category": ["biolink:Disease"], "description": "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.", "id": "MONDO:0100051", "name": "Idiopathic mast cell activation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["idiopathic MACS"], "xref": ["GARD:0026026", "ICD10CM:D89.42", "MEDGEN:1786072", "UMLS:C4267894"]}
{"category": ["biolink:Disease"], "description": "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.", "id": "MONDO:0100053", "name": "Anaphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["anaphylactic shock", "systemic anaphylaxis"], "xref": ["MEDGEN:1373755", "MESH:D000707", "MedDRA:10002198", "NCIT:C107101", "SCTID:39579001", "UMLS:C4316895", "icd11.foundation:1868068711"]}
{"category": ["biolink:Disease"], "description": "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.", "id": "MONDO:0100054", "name": "Idiopathic anaphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:595022", "SCTID:241954008", "UMLS:C0413235"]}
{"category": ["biolink:Disease"], "description": "Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.", "id": "MONDO:0100055", "name": "Intraosseous spindle cell rhabdomyosarcoma with tfcp2/ncoa2 rearrangements", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026027", "MEDGEN:1791329", "NCIT:C178236", "UMLS:C5554888"]}
{"category": ["biolink:Disease"], "description": "A rare disorder in which anaphylaxis occurs in association with physical activity.", "id": "MONDO:0100056", "name": "Exercise-induced anaphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EIAn"], "xref": ["GARD:0006392", "MEDGEN:576137", "UMLS:C0344183", "icd11.foundation:1069179856"]}
{"category": ["biolink:Disease"], "description": "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.", "id": "MONDO:0100057", "name": "Food-dependent exercise-induced anaphylaxis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027991", "MEDGEN:1780757", "UMLS:C5546138", "icd11.foundation:854135859"]}
{"category": ["biolink:Disease"], "description": "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.", "id": "MONDO:0100058", "name": "Branched-chain aminotransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["HVLI", "branched-chain aminotransferase deficiency", "hypervalinemia and hyperleucine-isoleucinemia", "hypervalinemia or hyperleucine-isoleucinemia"], "xref": ["DOID:0060950", "GARD:0026028", "MEDGEN:1719306", "OMIM:618850", "UMLS:C5394277"]}
{"category": ["biolink:Disease"], "description": "Long-lasting, unexplained and asymptomatic blood hypereosinophilia.", "id": "MONDO:0100059", "name": "Hypereosinophilia of undetermined significance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HEUS", "benign eosinophilia"], "xref": ["GARD:0026029", "MEDGEN:1812275", "UMLS:C5666804"]}
{"category": ["biolink:Disease"], "description": "Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.", "id": "MONDO:0100060", "name": "Congenital/infantile spindle cell rhabdomyosarcoma with vgll2/ncoa2/cited2 rearrangements", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026030", "MEDGEN:1791325", "NCIT:C178232", "UMLS:C5554884"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.", "id": "MONDO:0100061", "name": "Prps1 deficiency disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:otar", "mondo:rare"], "synonym": ["PRPS1 deficiency disorder", "PRPS1-related CMTX5/Arts syndrome/XLNSHL"], "xref": ["GARD:0026031"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.", "id": "MONDO:0100062", "name": "Genetic developmental and epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0112202", "GARD:0009255", "ICD9:345.10", "NANDO:1200593", "NCIT:C122814", "OMIMPS:308350"]}
{"category": ["biolink:Disease"], "description": "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.", "id": "MONDO:0100063", "name": "Pericytoma with t(7;12)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["12)", "Pericytoma t(7"], "xref": ["DOID:0080896", "MEDGEN:1854549", "NCIT:C202896", "UMLS:C5907818"]}
{"category": ["biolink:Disease"], "description": "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).", "id": "MONDO:0100064", "name": "Tyrosine hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar", "mondo:rare"], "synonym": ["TH deficiency", "tyrosine 3-monooxygenase deficiency", "tyrosine Hydroxylase deficiency", "tyrosine hydroxylase deficiency"], "xref": ["GARD:0026032", "MEDGEN:1814581", "MESH:C537537", "NANDO:2200595", "NCIT:C157158", "UMLS:C5700309", "icd11.foundation:247698609"]}
{"category": ["biolink:Disease"], "description": "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).", "id": "MONDO:0100065", "name": "Th-deficient infantile parkinsonism and motor delay", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["tyrosine hydroxylase infantile parkinsonism and motor delay"], "xref": ["GARD:0026033"]}
{"category": ["biolink:Disease"], "description": "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.", "id": "MONDO:0100066", "name": "Th-deficient progressive infantile encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:rare"], "synonym": ["tyrosine hydroxylase-deficient progressive infantile encephalopathy"]}
{"category": ["biolink:Disease"], "description": "A spindle cell rhabdomyosarcoma occurring in children.", "id": "MONDO:0100067", "name": "Childhood spindle cell rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026034", "MEDGEN:882003", "NCIT:C123397", "UMLS:C4055242"]}
{"category": ["biolink:Disease"], "description": "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.", "id": "MONDO:0100068", "name": "Slc10a7-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["SLC10A7 deficiency", "SLC10A7-CDG", "SLC10A7-congenital disorder of glycosylation"]}
{"category": ["biolink:Disease"], "description": "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.", "id": "MONDO:0100069", "name": "Hearing impairment and infertile male syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:otar"], "synonym": ["HIIMS", "hearing impairment and infertile male syndrome"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.", "id": "MONDO:0100070", "name": "Neuroendocrine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["neuroendocrine system disease"], "xref": ["MEDGEN:1843486", "UMLS:C0541403"]}
{"category": ["biolink:Disease"], "description": "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.", "id": "MONDO:0100071", "name": "Cardiocutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1843498", "UMLS:C0543816"]}
{"category": ["biolink:Disease"], "description": "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.", "id": "MONDO:0100072", "name": "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected"]}
{"category": ["biolink:Disease"], "description": "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.", "id": "MONDO:0100073", "name": "Methicillin-resistant staphylococcus aureus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["MRSA"], "xref": ["EFO:0008555", "MEDGEN:575565", "UMLS:C0343401"]}
{"category": ["biolink:Disease"], "description": "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.", "id": "MONDO:0100074", "name": "Norovirus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A scoliosis with no known cause arising in a juvenile.", "id": "MONDO:0100076", "name": "Juvenile idiopathic scoliosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:M41.11", "MEDGEN:1843471", "Orphanet:459696", "UMLS:C3495538"]}
{"category": ["biolink:Disease"], "description": "A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.", "id": "MONDO:0100077", "name": "Congenital alveolar dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CAD"], "xref": ["GARD:0026035", "MEDGEN:20539", "UMLS:C0035220"]}
{"category": ["biolink:Disease"], "description": "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective.", "id": "MONDO:0100078", "name": "Resistant hypertension", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["drug resistant hypertension"]}
{"category": ["biolink:Disease"], "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.", "id": "MONDO:0100079", "name": "Developmental and epileptic encephalopathy, 6a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEE6A", "EIEE6", "developmental and epileptic encephalopathy, 6A", "epileptic encephalopathy, early infantile, 6"], "xref": ["GARD:0026036", "OMIM:607208"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.", "id": "MONDO:0100080", "name": "Cardioectodermal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected"], "synonym": ["cardio-ectodermal syndrome"]}
{"category": ["biolink:Disease"], "description": "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.", "id": "MONDO:0100081", "name": "Sleep disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disturbances, sleep", "sleep disturbance", "sleep disturbances"], "xref": ["EFO:0008568", "MEDGEN:208862", "NCIT:C3376", "UMLS:C0851578"]}
{"category": ["biolink:Disease"], "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.", "id": "MONDO:0100082", "name": "Leopard syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["LEOPARD syndrome 1", "LEOPARD syndrome type 1", "LPRD1", "lentiginosis, cardiomyopathic", "multiple lentigines syndrome"], "xref": ["DOID:0080548", "GARD:0026037", "MEDGEN:1631694", "OMIM:151100", "UMLS:C4551484"]}
{"category": ["biolink:Disease"], "description": "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.", "id": "MONDO:0100083", "name": "Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["FPD/AML syndrome", "FPS/AML syndrome", "Familial Platelet Disorder with Associated Myeloid Malignancy", "familial platelet disorder with associated myeloid malignancy", "familial platelet syndrome with predisposition to acute myelogenous leukaemia", "familial platelet syndrome with predisposition to acute myelogenous leukemia", "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"], "xref": ["GARD:0015329", "MEDGEN:321945", "NANDO:2200662", "NCIT:C151903", "NORD:1943", "OMIM:601399", "UMLS:C1832388"]}
{"category": ["biolink:Disease"], "description": "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.", "id": "MONDO:0100084", "name": "Alpha-actinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ACTA1 disease", "alpha actinopathy", "alpha-actinopathy"], "xref": ["GARD:0026038"]}
{"category": ["biolink:Disease"], "description": "A cancer that involves the upper limb long bone.", "id": "MONDO:0100085", "name": "Cancer of long bone of upper limb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cancer of fore limb long bone", "cancer of long bone of fore limb", "cancer of long bone of forelimb", "cancer of long bone of upper extremity", "cancer of upper extremity long bone", "long bones of upper limb cancer", "malignant neoplasm of upper limb long bone", "malignant upper limb long bone neoplasm"], "xref": ["GARD:0026039", "MEDGEN:671616", "UMLS:C0684596"]}
{"category": ["biolink:Disease"], "description": "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.", "id": "MONDO:0100086", "name": "Perinatal disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["perinatal condition", "perinatal disorder"], "xref": ["EFO:0010238", "ICD10CM:P00-P96", "MEDGEN:75717", "UMLS:C0270075"]}
{"category": ["biolink:Disease"], "description": "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.", "id": "MONDO:0100087", "name": "Familial alzheimer disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Alzheimer disease, familial", "FAD", "GARD:0000632"], "xref": ["MEDGEN:82914", "UMLS:C0276496"]}
{"category": ["biolink:Disease"], "description": "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.", "id": "MONDO:0100089", "name": "Gata1-related x-linked cytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GATA1-Related Cytopenia", "GATA1-Related X-Linked Cytopenia"], "xref": ["GARD:0026040", "MEDGEN:335283", "UMLS:C1845837"]}
{"category": ["biolink:Disease"], "description": "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.", "id": "MONDO:0100090", "name": "Congenital alveolar dysplasia due to fgf10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CAD due to FGF10"], "xref": ["GARD:0026041"]}
{"category": ["biolink:Disease"], "description": "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.", "id": "MONDO:0100091", "name": "Inherited pseudoxanthoma elasticum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["inherited Gronblad Strandberg syndrome", "inherited PXE"], "xref": ["GARD:0009643", "MEDGEN:697574", "UMLS:C1274225"]}
{"category": ["biolink:Disease"], "description": "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.", "id": "MONDO:0100092", "name": "Myoclonus, familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MYOCL2"], "xref": ["GARD:0026042", "MEDGEN:1683864", "OMIM:618364", "UMLS:C5193056"]}
{"category": ["biolink:Disease"], "description": "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.", "id": "MONDO:0100093", "name": "Myoclonus, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FCM", "MYOCL1"], "xref": ["GARD:0026043", "MEDGEN:761667", "OMIM:614937", "UMLS:C3539916"]}
{"category": ["biolink:Disease"], "description": "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.", "id": "MONDO:0100094", "name": "Cannabinoid hyperemesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CHS"], "xref": ["MEDGEN:1829968", "UMLS:C5243764", "icd11.foundation:908145983"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.", "id": "MONDO:0100095", "name": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["CONDSIAS", "childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome", "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"], "xref": ["DOID:0070352", "GARD:0026044", "MEDGEN:1648391", "OMIM:618170", "Orphanet:694922", "UMLS:C4748527"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with severe acute respiratory syndrome coronavirus 2.", "id": "MONDO:0100096", "name": "Covid-19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["2019 novel coronavirus infection", "2019-nCoV infection", "coronavirus disease 2019", "severe acute respiratory syndrome coronavirus 2 infectious disease"], "xref": ["DOID:0080600", "ICD10CM:U07.1", "MEDGEN:1699653", "MESH:C000657245", "MESH:D000086382", "SCTID:840539006", "UMLS:C5203670", "icd11.foundation:1730556128"]}
{"category": ["biolink:Disease"], "description": "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.", "id": "MONDO:0100097", "name": "Congenital alveolar dysplasia due to tbx4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CAD due to TBX4"], "xref": ["GARD:0026045"]}
{"category": ["biolink:Disease"], "description": "A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.", "id": "MONDO:0100098", "name": "Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026046"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.", "id": "MONDO:0100099", "name": "Retrograde cricopharyngeus dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["R-CPD"]}
{"category": ["biolink:Disease"], "description": "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.", "id": "MONDO:0100100", "name": "Selenon-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SELENON-related myopathy", "SEPN1-related myopathy"], "xref": ["GARD:0026047"]}
{"category": ["biolink:Disease"], "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.", "id": "MONDO:0100101", "name": "Fetal akinesia deformation sequence 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FADS1", "Pena-Shokeir syndrome type 1", "Pena-Shokeir syndrome, type 1"], "xref": ["DOID:0111377", "GARD:0026048", "MEDGEN:220903", "OMIM:208150", "Orphanet:994", "UMLS:C1276035"]}
{"category": ["biolink:Disease"], "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.", "id": "MONDO:0100102", "name": "Fetal akinesia deformation sequence 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FADS2"], "xref": ["DOID:0111378", "GARD:0016495", "MEDGEN:1678048", "OMIM:618388", "UMLS:C4760576"]}
{"category": ["biolink:Disease"], "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.", "id": "MONDO:0100103", "name": "Fetal akinesia deformation sequence 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FADS3"], "xref": ["DOID:0111376", "GARD:0016496", "MEDGEN:1680087", "OMIM:618389", "UMLS:C4760599"]}
{"category": ["biolink:Disease"], "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.", "id": "MONDO:0100104", "name": "Fetal akinesia deformation sequence 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FADS4"], "xref": ["DOID:0111379", "GARD:0016497", "MEDGEN:1675450", "OMIM:618393", "UMLS:C4760578"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.", "id": "MONDO:0100105", "name": "Brain small vessel disease 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BSVD3"], "xref": ["DOID:0112315", "GARD:0026049", "MEDGEN:1677948", "OMIM:618360", "UMLS:C5193053"]}
{"category": ["biolink:Disease"], "description": "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.", "id": "MONDO:0100107", "name": "Non-neonatal early infantile epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.", "id": "MONDO:0100108", "name": "Tpm3-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TPM3 myopathy", "TPM3-related myopathy", "congenital myopathy related to TPM3"], "xref": ["GARD:0026050"]}
{"category": ["biolink:Disease"], "description": "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.", "id": "MONDO:0100109", "name": "Zinner syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100110", "name": "Adenovirus renal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.", "id": "MONDO:0100111", "name": "Focal segmental glomerulosclerosis and neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FSGSNEDS"], "xref": ["MEDGEN:1794148", "OMIM:619428", "UMLS:C5561938"]}
{"category": ["biolink:Disease"], "description": "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.", "id": "MONDO:0100112", "name": "Acyl-coa binding domain containing protein 5 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_protected", "mondo:otar", "mondo:rare"], "synonym": ["ACBD5 deficiency", "acyl-CoA binding domain containing protein 5 deficiency"]}
{"category": ["biolink:Disease"], "description": "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.", "id": "MONDO:0100113", "name": "Hearing loss with skin disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.", "id": "MONDO:0100114", "name": "Dry age related macular degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["dry AMD", "dry ARMD"], "xref": ["GARD:0026051", "MEDGEN:543161", "MedDRA:10075567", "UMLS:C0271083"]}
{"category": ["biolink:Disease"], "description": "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.", "id": "MONDO:0100115", "name": "Acute flaccid myelitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["AFM"], "xref": ["DOID:0080947", "GARD:0013142", "ICD10CM:G04.82", "MEDGEN:927532", "MESH:C000629404", "NCIT:C128379", "Orphanet:623801", "UMLS:C4290000"]}
{"category": ["biolink:Disease"], "description": "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.", "id": "MONDO:0100116", "name": "Middle east respiratory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["MERS", "camel flu"], "xref": ["DOID:0080642", "GARD:0022321", "MEDGEN:811327", "NCIT:C128424", "Orphanet:576074", "UMLS:C3694279", "icd11.foundation:1840423014"]}
{"category": ["biolink:Disease"], "description": "An instance of skin disease that is caused by a modification of the individual's genome.", "id": "MONDO:0100118", "name": "Hereditary skin disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["disease, genetic skin", "diseases, genetic skin", "genetic skin disease", "genetic skin diseases", "genodermatosis", "skin disease, genetic"], "xref": ["MESH:D012873", "SCTID:239001006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100119", "name": "Knobloch syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026052", "MEDGEN:1812153", "OMIM:618458", "UMLS:C5676897"]}
{"category": ["biolink:Disease"], "description": "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.", "id": "MONDO:0100120", "name": "Vector-borne disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["vector-borne infection", "vector-borne infectious disease"], "xref": ["MEDGEN:738484", "MESH:D000079426", "UMLS:C1640363"]}
{"category": ["biolink:Disease"], "description": "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.", "id": "MONDO:0100121", "name": "Scn4a-related myopathy, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SCN4A-related myopathy, autosomal recessive", "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis", "congenital myopathy with severe fetal hypokinesia", "congenital myopathy with severe foetal hypokinesia", "myopathy with ptosis and mild dystrophic pattern"], "xref": ["GARD:0026053"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.", "id": "MONDO:0100122", "name": "Gnptab-mucolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GNPTAB-related disorder", "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency"], "xref": ["GARD:0026054"]}
{"category": ["biolink:Disease"], "description": "Bronchiolitis as a response to a toxic exposure.", "id": "MONDO:0100123", "name": "Toxic bronchiolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.", "id": "MONDO:0100124", "name": "Naa10-related syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["NAA10 X-linked syndromic intellectual disability", "NAA10-related syndrome", "X-linked syndromic intellectual disability caused by mutation in NAA10"], "xref": ["GARD:0026055"]}
{"category": ["biolink:Disease"], "description": "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.", "id": "MONDO:0100125", "name": "Hallucinogen-persisting perception disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:F16.183", "MEDGEN:536590", "UMLS:C0236720"]}
{"category": ["biolink:Disease"], "description": "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.", "id": "MONDO:0100126", "name": "P5cs deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["P5CS deficiency", "delta1-pyrroline-5-carboxylate synthetase deficiency"], "xref": ["GARD:0026056"]}
{"category": ["biolink:Disease"], "description": "Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.", "id": "MONDO:0100127", "name": "Toxic bronchiolitis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:573502", "SCTID:196027008", "UMLS:C0340046"]}
{"category": ["biolink:Disease"], "description": "The simultaneous infection of a host by multiple pathogen species.", "id": "MONDO:0100128", "name": "Coinfection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:452372", "MESH:D060085", "UMLS:C0275524"]}
{"category": ["biolink:Disease"], "description": "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.", "id": "MONDO:0100129", "name": "Intracranial arachoid cyst", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["arachnoid cysts, intracranial", "intracranial arachnoid cysts"], "xref": ["GARD:0026057", "MEDGEN:148353", "OMIM:207790", "UMLS:C0751615"]}
{"category": ["biolink:Disease"], "description": "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.", "id": "MONDO:0100130", "name": "Adult acute respiratory distress syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["adult ARDS", "adult acute respiratory distress syndrome", "adult respiratory distress syndrome", "adult respiratory distress syndrome, ARDS", "respiratory distress syndrome, adult"], "xref": ["DOID:11394", "GARD:0018902", "MEDGEN:20540", "MESH:D012128", "Orphanet:70578", "SCTID:67782005", "UMLS:C0035222", "icd11.foundation:1466842111"]}
{"category": ["biolink:Disease"], "description": "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.", "id": "MONDO:0100131", "name": "Pediatric acute respiratory distress syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PARDS"], "xref": ["GARD:0027370", "MEDGEN:1876564", "Orphanet:685082", "UMLS:C6012346"]}
{"category": ["biolink:Disease"], "description": "An adenosquamous carcinoma that arises from the intrahepatic bile ducts.", "id": "MONDO:0100132", "name": "Intrahepatic bile duct adenosquamous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026058"]}
{"category": ["biolink:Disease"], "description": "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.", "id": "MONDO:0100133", "name": "Mitochondrial complex i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["NADH coenzyme Q reductase deficiency", "complex 1 mitochondrial respiratory chain deficiency", "isolated NADH-CoQ reductase deficiency", "isolated NADH-coenzyme Q reductase deficiency", "isolated NADH-ubiquinone reductase deficiency", "isolated complex I deficiency", "isolated mitochondrial respiratory chain complex I deficiency", "mitochondrial respiratory chain complex I deficiency"], "xref": ["DOID:0060536", "GARD:0003908", "MEDGEN:374101", "MESH:C537475", "NANDO:1200180", "Orphanet:2609", "UMLS:C1838979"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex I deficiency in which the cause of the disease is a mitochondrial mutation in the complex I subunit genes.", "id": "MONDO:0100134", "name": "Mitochondrial complex i deficiency, mitochondrial type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026059"]}
{"category": ["biolink:Disease"], "description": "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.", "id": "MONDO:0100135", "name": "Dravet syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DS", "Dravet", "Dravet syndrome", "SME", "SMEB", "myoclonic epilepsy, severe, of infancy", "severe myoclonic epilepsy of infancy"], "xref": ["DOID:0060171", "DOID:0080422", "GARD:0010430", "ICD10CM:G40.83", "ICD9:345.10", "MEDGEN:148243", "NANDO:1200587", "NANDO:2200877", "NCIT:C116573", "NORD:1061", "SCTID:230437002", "UMLS:C0751122", "icd11.foundation:1255654700"]}
{"category": ["biolink:Disease"], "description": "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.", "id": "MONDO:0100137", "name": "Telomere syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["STS", "short telomere syndrome"], "xref": ["GARD:0026060", "MEDGEN:1668986", "NCIT:C152065", "UMLS:C4727832"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.", "id": "MONDO:0100138", "name": "X-linked recessive mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features"], "xref": ["GARD:0026061"]}
{"category": ["biolink:Disease"], "description": "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.", "id": "MONDO:0100144", "name": "Uner tan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["recessive quadrupedalism"]}
{"category": ["biolink:Disease"], "description": "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.", "id": "MONDO:0100146", "name": "Atp6ap2-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ATP6AP2-related disorder"], "xref": ["GARD:0026062"]}
{"category": ["biolink:Disease"], "description": "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.", "id": "MONDO:0100147", "name": "Satb2 associated disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["SAS", "SATB2 associated disorder", "SATB2-associated syndrome"], "xref": ["GARD:0022326", "Orphanet:576278"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.", "id": "MONDO:0100148", "name": "X-linked complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["X-linked complex neurodevelopmental disorder"], "xref": ["GARD:0027063"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.", "id": "MONDO:0100149", "name": "Pnpla6-related spastic paraplegia with or without ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026063"]}
{"category": ["biolink:Disease"], "description": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.", "id": "MONDO:0100150", "name": "Ryr1-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["RYR1-related myopathy", "neurological muscular channelopathy due to a genetic ryanodine receptor defect"], "xref": ["GARD:0026064", "Orphanet:98742"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.", "id": "MONDO:0100151", "name": "Nephropathic cystinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Abderhalden Kaufmann Lignac syndrome", "Abderhalden Lignac Kaufmann disease", "Abderhalden-Kaufmann-Lignac syndrome", "Abderhalden-Lignac-Kaufmann disease", "CTNS", "cystinosis, atypical nephropathic", "cystinosis, nephropathic"], "xref": ["GARD:0010074", "MEDGEN:419735", "MESH:C535335", "NANDO:1200162", "NANDO:2201234", "NCIT:C129932", "OMIM:219800", "UMLS:C2931187", "icd11.foundation:810546659"]}
{"category": ["biolink:Disease"], "description": "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.", "id": "MONDO:0100152", "name": "Dkc1-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKC1-related disorder"], "xref": ["GARD:0026065"]}
{"category": ["biolink:Disease"], "description": "A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.", "id": "MONDO:0100153", "name": "Tubulinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0112227"]}
{"category": ["biolink:Disease"], "description": "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.", "id": "MONDO:0100154", "name": "Tubb3-related tubulinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.", "id": "MONDO:0100155", "name": "Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RAPH syndrome"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.", "id": "MONDO:0100156", "name": "Imerslund-grasbeck syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["Imerslund-Grasbeck syndrome 1", "Imerslund-Grasbeck syndrome type 1", "MGA-1", "MGA1", "Mga1", "enterocyte cobalamin malabsorption", "enterocyte intrinsic factor receptor, defect of", "megaloblastic Anaemia type 1", "megaloblastic Anemia type 1", "megaloblastic anemia, 1", "megaloblastic anemia, Finnish type", "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria"], "xref": ["GARD:0026066", "MEDGEN:865256", "NCIT:C131677", "OMIM:261100", "UMLS:C4016819"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).", "id": "MONDO:0100157", "name": "Imerslund-grasbeck syndrome type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Imerslund-Grasbeck syndrome 2", "megaloblastic anemia, Norwegian type"], "xref": ["GARD:0026067", "MEDGEN:865385", "OMIM:618882", "UMLS:C4016948"]}
{"category": ["biolink:Disease"], "description": "A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.", "id": "MONDO:0100158", "name": "Chrng-associated hypo-akinesia disorder of prenatal onset", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026068"]}
{"category": ["biolink:Disease"], "description": "Abnormally high blood pressure in a newborn child.", "id": "MONDO:0100159", "name": "Pulmonary hypertension, neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["persistent pulmonary hypertension in the newborn"], "xref": ["GARD:0027371", "NCIT:C4732"]}
{"category": ["biolink:Disease"], "description": "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.", "id": "MONDO:0100160", "name": "Alcoholic ketoacidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["alcoholic acidosis", "alcoholic ketosis"], "xref": ["DOID:0080949", "MEDGEN:541151", "UMLS:C0268039"]}
{"category": ["biolink:Disease"], "description": "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.", "id": "MONDO:0100161", "name": "Hyperkalemic renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hyperkalemic RTA", "renal tubular acidosis type 4", "type 4 RTA", "type 4 renal tubular acidosis"], "xref": ["GARD:0027992", "MEDGEN:87662", "Orphanet:89939", "UMLS:C0376185"]}
{"category": ["biolink:Disease"], "description": "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).", "id": "MONDO:0100162", "name": "Ikbkg-related immunodeficiency with or without ectodermal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["NEMO related ID/EDA-ID"]}
{"category": ["biolink:Disease"], "description": "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.", "id": "MONDO:0100163", "name": "Covid-19–associated multisystem inflammatory syndrome in children", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COVID-19 -related paediatric inflammatory multisystem syndrome", "COVID-19 -related pediatric inflammatory multisystem syndrome", "COVID-19 Kawasaki-like syndrome", "COVID-19 associated multisystem inflammatory syndrome in children", "MIS-C", "PIMS", "PIMS-TS", "PMIS", "SARS-CoV-2 Kawasaki-like syndrome", "multisystem inflammatory syndrome in children", "multisystem inflammatory syndrome in children associated with COVID-19", "multisystem inflammatory syndrome in children associated with coronavirus disease 2019", "paediatric inflammatory multisystem syndrome", "paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2", "paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2", "paediatric multi-system inflammatory syndrome potentially associated with COVID-19", "paediatric multisystem inflammatory syndrome", "pediatric inflammatory multisystem syndrome", "pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2", "pediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2", "pediatric multi-system inflammatory syndrome potentially associated with COVID-19", "pediatric multisystem inflammatory syndrome"], "xref": ["DOID:0080711", "GARD:0026069", "NCIT:C172127"]}
{"category": ["biolink:Disease"], "description": "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.", "id": "MONDO:0100164", "name": "Permanent neonatal diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNDM", "monogenic diabetes of infancy"], "xref": ["DOID:0060639", "GARD:0010457", "MEDGEN:371484", "MESH:C563425", "NCIT:C114902", "OMIMPS:606176", "Orphanet:99885", "SCTID:609565001", "UMLS:C1833104", "icd11.foundation:33655955"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.", "id": "MONDO:0100165", "name": "Permanent neonatal diabetes mellitus 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PNDM1", "diabetes mellitus, permanent neonatal 1"], "xref": ["GARD:0026070", "MEDGEN:1717586", "OMIM:606176", "UMLS:C5393570"]}
{"category": ["biolink:Disease"], "description": "Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.", "id": "MONDO:0100166", "name": "Ppp2r1a-related intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027993"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100168", "name": "Desmoid tumor caused by somatic mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111349", "GARD:0026071", "MEDGEN:436434", "UMLS:C2675440"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100169", "name": "Polyneuropathy, inflammatory demyelinating, chronic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CIDP"], "xref": ["GARD:0026072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100172", "name": "Intellectual disability, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["autosomal dominant intellectual disability"], "xref": ["OMIMPS:156200"]}
{"category": ["biolink:Disease"], "description": "An inherited susceptibility or predisposition to developing leukemia, acute myeloid.", "id": "MONDO:0100173", "name": "Leukemia, acute myeloid, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0027994", "MEDGEN:477590", "UMLS:C3275959"]}
{"category": ["biolink:Disease"], "description": "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.", "id": "MONDO:0100175", "name": "Ttn-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TTN myopathy", "congenital myopathy related to TTN"], "xref": ["GARD:0026073"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.", "id": "MONDO:0100176", "name": "Ap-4 deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["AP-4 deficiency syndrome"], "xref": ["GARD:0027995", "MEDGEN:1663055", "Orphanet:280763", "UMLS:C4755264"]}
{"category": ["biolink:Disease"], "description": "A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.", "id": "MONDO:0100183", "name": "Radioulnar synostosis, nonsyndromic, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["MEDGEN:1712799", "OMIM:179300", "UMLS:C5241445"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.", "id": "MONDO:0100184", "name": "Gtp cyclohydrolase i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GTP cyclohydrolase I deficiency", "GTP-cyclohydrolase I deficiency"], "xref": ["GARD:0026074", "MEDGEN:75683", "UMLS:C0268467"]}
{"category": ["biolink:Disease"], "description": "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.", "id": "MONDO:0100185", "name": "Immune reconstitution inflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IRD", "IRIS", "IRS", "immune reconstitution syndrome", "immune restoration disease"], "xref": ["ICD10CM:D89.3", "MEDGEN:295297", "MESH:D054019", "NCIT:C125712", "UMLS:C1619738", "icd11.foundation:180703474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100186", "name": "Gtp cyclohydrolase i deficiency with hyperphenylalaninemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["GTPCH deficiency", "hyperphenylalaninemia due to GTP cyclohydrolase deficiency", "hyperphenylalaninemia, Bh4-deficient, type B"], "xref": ["DOID:0112225", "GARD:0002844", "NCIT:C141442", "OMIM:233910", "Orphanet:2102", "SCTID:23447005"]}
{"category": ["biolink:Disease"], "description": "A constipation disorder caused by use of opioids. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.", "id": "MONDO:0100187", "name": "Opioid-induced constipation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OIC"], "xref": ["MEDGEN:1641995", "UMLS:C3160897"]}
{"category": ["biolink:Disease"], "description": "A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.", "id": "MONDO:0100188", "name": "Combined apoa-i and apoc-iii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026076"]}
{"category": ["biolink:Disease"], "description": "Metaplastic changes in the lining of the upper digestive tract.", "id": "MONDO:0100190", "name": "Gastric intestinal metaplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GIM", "intestinal metaplasia"], "xref": ["ICD10CM:K31.A", "MEDGEN:75629", "NCIT:C8360", "UMLS:C0267187"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.", "id": "MONDO:0100191", "name": "Inherited kidney disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["genetic renal disease", "inherited kidney disease", "inherited renal disorder", "nephrogenetic disorder"]}
{"category": ["biolink:Disease"], "description": "A liver disease characterized by the liver losing or has lost all of its function.", "id": "MONDO:0100192", "name": "Liver failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hepatic failure"], "xref": ["MEDGEN:88444", "MESH:D017093", "NCIT:C26922", "UMLS:C0085605"]}
{"category": ["biolink:Disease"], "description": "Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.", "id": "MONDO:0100193", "name": "Chronic liver failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ESLD", "end stage liver disease", "end stage liver disease (decompensated liver disease)", "end-stage liver disease"], "xref": ["ICD10CM:K72.1", "MEDGEN:423539", "NCIT:C84428", "UMLS:C2936476", "icd11.foundation:282512557"]}
{"category": ["biolink:Disease"], "description": "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.", "id": "MONDO:0100194", "name": "Pregnancy associated osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["pregnancy and lactation-associated osteoporosis"], "xref": ["GARD:0026077"]}
{"category": ["biolink:Disease"], "description": "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.", "id": "MONDO:0100195", "name": "X-linked intellectual disability with hypopituitarism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026078"]}
{"category": ["biolink:Disease"], "description": "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.", "id": "MONDO:0100196", "name": "Tpm2-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TPM2 myopathy", "TPM2-related myopathy", "autosomal dominant TPM2-related myopathy", "congenital myopathy related to TPM2"], "xref": ["GARD:0026079"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.", "id": "MONDO:0100197", "name": "Parainfluenza infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HPIV infectious disorder", "parainfluenza (disorder)", "parainfluenza infectious disorder"]}
{"category": ["biolink:Disease"], "description": "An instance of encephalopathy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100198", "name": "Mendelian encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100199", "name": "Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026080"]}
{"category": ["biolink:Disease"], "description": "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.", "id": "MONDO:0100200", "name": "Microcephaly with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["microcephaly with neurodevelopmental phenotypes"], "xref": ["GARD:0026081"]}
{"category": ["biolink:Disease"], "description": "A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.", "id": "MONDO:0100201", "name": "Lumbar disk disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:67462", "UMLS:C0221775"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with parainfluenza virus type 1.", "id": "MONDO:0100203", "name": "Parainfluenza virus type 1 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["human respirovirus 1 infectious disease", "infection caused by human parainfluenza virus 1", "infection due to human parainfluenza virus 1"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with parainfluenza virus type 2.", "id": "MONDO:0100204", "name": "Parainfluenza virus type 2 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["human rubulavirus 2 infectious disease", "infection caused by human parainfluenza virus 2", "infection due to human parainfluenza virus 2"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with parainfluenza virus type 4.", "id": "MONDO:0100205", "name": "Parainfluenza virus type 4 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["human rubulavirus 4 infectious disease", "infection caused by human parainfluenza virus 4", "infection due to human parainfluenza virus 4"]}
{"category": ["biolink:Disease"], "description": "Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.", "id": "MONDO:0100207", "name": "Infantile-onset epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.", "id": "MONDO:0100208", "name": "Self-limited familial neonatal-infantile epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SeLFNIE"], "xref": ["GARD:0026082", "MEDGEN:1803744", "UMLS:C5671283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100209", "name": "X inactivation, familial skewed", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100210", "name": "Growth hormone insensitivity syndrome with immune dysregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026083", "OMIMPS:245590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100211", "name": "Growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Laron syndrome due to postreceptor defect", "Laron syndrome with immunodeficiency", "Laron-like syndrome", "growth hormone insensitivity due to postreceptor defect", "short stature due to STAT5b deficiency"], "xref": ["DOID:0080836", "GARD:0018311", "MEDGEN:1734133", "MESH:C537871", "NANDO:2200737", "OMIM:245590", "Orphanet:220465", "SCTID:724179008", "UMLS:C5435698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100212", "name": "Ifap syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFAP syndrome", "ichthyosis follicularis-alopecia-photophobia syndrome", "ichthyosis follicularis-atrichia-photophobia syndrome"], "xref": ["GARD:0002952", "MEDGEN:327007", "OMIMPS:308205", "Orphanet:2273", "UMLS:C1839988"]}
{"category": ["biolink:Disease"], "description": "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.", "id": "MONDO:0100213", "name": "Ifap syndrome 1, with or without bresheck syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFAP syndrome with or without BRESHECK syndrome", "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive", "IFAP/BRESHECK syndrome", "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia"], "xref": ["DOID:0111821", "GARD:0015297", "MEDGEN:1746744", "MESH:C536085", "NANDO:2200999", "OMIM:308205", "UMLS:C5399971"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100214", "name": "Rajab interstitial lung disease with brain calcifications", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026084", "MEDGEN:462260", "OMIMPS:613658", "UMLS:C3150910"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100215", "name": "Rajab interstitial lung disease with brain calcifications 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["brain calcification, Rajab type", "neurodevelopmental disorder with brain, liver, and lung abnormalities"], "xref": ["GARD:0018297", "MEDGEN:1750003", "OMIM:613658", "OMIM:618007", "Orphanet:178506", "SCTID:720576001", "UMLS:C5436276"]}
{"category": ["biolink:Disease"], "description": "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.", "id": "MONDO:0100216", "name": "Dicer1-related tumor predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_match"], "synonym": ["DICER1 syndrome", "PPB familial tumour susceptibility syndrome", "PPBFTDS", "pleuro-pulmonary blastoma familial tumour susceptibility syndrome", "pleuropulmonary blastoma familial tumour susceptibility syndrome"], "xref": ["DOID:0081063", "GARD:0010734", "ICD9:199.1", "MEDGEN:825667", "NCIT:C123317", "Orphanet:284343", "SCTID:702411003", "UMLS:C3839822"]}
{"category": ["biolink:Disease"], "description": "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.", "id": "MONDO:0100217", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DEDSSH2", "diphthamide deficiency syndrome 2"], "xref": ["DOID:0070478", "MEDGEN:1823996", "OMIM:620062", "UMLS:C5774223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100218", "name": "Arthrogryposis multiplex congenita 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["AMC5", "ARTHROGRYPOSIS MULTIPLEX CONGENITA 5"], "xref": ["DOID:0080981", "GARD:0026085", "MEDGEN:1731112", "OMIM:618947", "UMLS:C5436453"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100219", "name": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["GHISID2", "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT", "growth hormone insensitivity with immune dysregulation 2, autosomal dominant"], "xref": ["DOID:0080837", "GARD:0018312", "MEDGEN:1723138", "OMIM:618985", "UMLS:C5436546"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100220", "name": "Rajab interstitial lung disease with brain calcifications 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2", "RILDBC2"], "xref": ["GARD:0018298", "MEDGEN:1770895", "OMIM:619013", "UMLS:C5436603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100221", "name": "Ifap syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["IFAP SYNDROME 2", "IFAP2", "ichthyosis , follicular, with atrichia and photophobia syndrome 2", "ichthyosis follicularis, atrichia, and photophobia syndrome 2"], "xref": ["GARD:0016402", "MEDGEN:1763502", "OMIM:619016", "UMLS:C5436607"]}
{"category": ["biolink:Disease"], "description": "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.", "id": "MONDO:0100222", "name": "A20 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HA20"], "xref": ["GARD:0026086", "MEDGEN:1845429", "NANDO:1200997", "NANDO:2200458", "UMLS:C5849639"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I.", "id": "MONDO:0100223", "name": "Mitochondrial complex i deficiency, nuclear type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112065", "GARD:0026087", "OMIMPS:252010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100224", "name": "Mitochondrial complex i deficiency, nuclear type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MC1DN1", "NADH-coenzyme Q reductase deficiency", "NADH:Q(1) oxidoreductase deficiency", "mitochondrial NADH dehydrogenase component of Complex I, deficiency of", "mitochondrial complex I deficiency, nuclear type 1"], "xref": ["DOID:0112074", "GARD:0015201", "NANDO:1200180", "OMIM:252010"]}
{"category": ["biolink:Disease"], "description": "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.", "id": "MONDO:0100225", "name": "Collagen 6-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["collagen 6-related myopathy", "collagen VI-related dystrophy", "collagen VI-related muscle disorder", "collagen VI-related muscular dystrophy", "collagen VI-related myopathy"], "xref": ["GARD:0012705"]}
{"category": ["biolink:Disease"], "description": "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).", "id": "MONDO:0100226", "name": "Parasomnia, sleepwalking type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PSMNSW", "parasomnia, sleepwalking type", "parasomnia, sleepwalking type, multifactorial"], "xref": ["MEDGEN:462713", "MESH:D013009", "OMIM:613938", "UMLS:C3151363"]}
{"category": ["biolink:Disease"], "description": "Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.", "id": "MONDO:0100227", "name": "Als2-related motor neuron disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["Alsin-related motor neuron disease"], "xref": ["GARD:0026088"]}
{"category": ["biolink:Disease"], "description": "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.", "id": "MONDO:0100228", "name": "Lama2-related muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["LAMA2-related muscular dystrophy"], "xref": ["GARD:0026089", "MEDGEN:1826054", "UMLS:C5679788"]}
{"category": ["biolink:Disease"], "description": "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.", "id": "MONDO:0100230", "name": "Fatty acyl-coa reductase 1 upregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FAR1 upregulation", "fatty acyl-CoA reductase 1 upregulation"], "xref": ["GARD:0026090"]}
{"category": ["biolink:Disease"], "description": "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.", "id": "MONDO:0100233", "name": "Long covid-19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PASC", "long haul COVID-19", "long-haul COVID-19", "post-acute sequelae of COVID-19", "post-acute sequelae of SARS-CoV-2 infection", "sequelae of COVID-19"], "xref": ["DOID:0080848", "MEDGEN:1735839", "MESH:D000094024", "MedDRA:10085503", "MedDRA:10085504", "NCIT:C179263", "UMLS:C5433293"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.", "id": "MONDO:0100234", "name": "Paroxysmal familial ventricular fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["IVF", "idiopathic ventricular fibrillation", "idiopathic ventricular fibrillation, non Brugada type", "paroxysmal familial ventricular fibrillation", "paroxysmal familial ventricular fibrillation (disorder)", "paroxysmal ventricular fibrillation", "ventricular fibrillation, paroxysmal familial"], "xref": ["GARD:0004227", "MEDGEN:83310", "Orphanet:228140", "UMLS:C0340493"]}
{"category": ["biolink:Disease"], "description": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.", "id": "MONDO:0100235", "name": "Foxc1-related anterior segment dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026091"]}
{"category": ["biolink:Disease"], "description": "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.", "id": "MONDO:0100236", "name": "Ltbp2-related ocular dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An instance of cutis laxa that is inherited.", "id": "MONDO:0100237", "name": "Inherited cutis laxa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary cutis laxa"], "xref": ["GARD:0026092", "MEDGEN:609465", "OMIMPS:123700", "UMLS:C0432334"]}
{"category": ["biolink:Disease"], "description": "An instance of Fanconi renotubular syndrome that is inherited.", "id": "MONDO:0100238", "name": "Inherited fanconi renotubular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hereditary Fanconi renotubular syndrome"], "xref": ["GARD:0026093", "OMIMPS:134600"]}
{"category": ["biolink:Disease"], "description": "An instance of hypertrophic pyloric stenosis that is inherited.", "id": "MONDO:0100239", "name": "Inherited hypertrophic pyloric stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hereditary hypertrophic pyloric stenosis"], "xref": ["MEDGEN:196010", "OMIMPS:179010", "UMLS:C0700639"]}
{"category": ["biolink:Disease"], "description": "An instance of thrombophilia that is inherited.", "id": "MONDO:0100240", "name": "Inherited thrombophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary hypercoagulable disorder", "hereditary thrombophilia", "thrombophilia, hereditary"], "xref": ["GARD:0026094", "MEDGEN:391721", "OMIMPS:188050", "UMLS:C2584620"]}
{"category": ["biolink:Disease"], "description": "An instance of thrombocytopenia that is inherited.", "id": "MONDO:0100241", "name": "Inherited thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["hereditary thrombocytopenia"], "xref": ["GARD:0026095", "OMIMPS:313900"]}
{"category": ["biolink:Disease"], "description": "An inherited susceptibility or predisposition to developing glioma.", "id": "MONDO:0100242", "name": "Glioma susceptibility", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["glioma, susceptibility", "glioma, susceptibility to"], "xref": ["GARD:0027996", "OMIMPS:137800"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.", "id": "MONDO:0100244", "name": "Paroxysmal nocturnal hemoglobinuria", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Marchiafava-Micheli disease", "PNH", "acquired paroxysmal nocturnal hemoglobinuria", "hereditary paroxysmal nocturnal hemoglobinuria", "inherited paroxysmal nocturnal hemoglobinuria", "paroxysmal hemoglobinuria"], "xref": ["DOID:0060284", "GARD:0007337", "HGNC:8957", "HP:0004818", "ICD10CM:D59.5", "MEDGEN:7471", "MedDRA:10034042", "NCIT:C61233", "NORD:1557", "OMIMPS:300818", "Orphanet:447", "SCTID:1963002", "UMLS:C0024790", "icd11.foundation:859588467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100247", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0080503", "GARD:0026096", "MEDGEN:1683744", "OMIMPS:614080", "UMLS:C5191419"]}
{"category": ["biolink:Disease"], "description": "A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.", "id": "MONDO:0100248", "name": "Rapidly progressive primary central nervous system vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["rapidly progressive PCNSV"], "xref": ["GARD:0026097"]}
{"category": ["biolink:Disease"], "description": "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.", "id": "MONDO:0100249", "name": "46,xx testicular disorder of sex development", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["46,XX testicular DSD", "46,XX testicular differences of sex development", "46,XX testicular disorder of sex development", "46,XX testicular disorders of Sex development", "De la Chapelle syndrome", "XX, male syndrome"], "xref": ["DOID:0111760", "GARD:0000399", "MEDGEN:424734", "MESH:D058531", "NCIT:C127170", "Orphanet:393", "UMLS:C2936419", "icd11.foundation:1357942532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100250", "name": "46,xx sex reversal 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["46,XX SEX reversal 1", "46,XX Sex reversal type 1", "46,XX Sex reversal, SRY-positive", "46,XX gonadal dysgenesis, complete, SRY-positive", "46XX sex reversal 1, X-linked dominant", "SRXX1"], "xref": ["DOID:0111761", "GARD:0026098", "MEDGEN:411324", "NCIT:C179867", "OMIM:400045", "UMLS:C2748895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100251", "name": "Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["HFTC", "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "hypercalcemic tumoral calcinosis", "hyperphosphatemic familial tumoral calcinosis"], "xref": ["DOID:0111063", "GARD:0010879", "MEDGEN:360297", "NCIT:C131851", "Orphanet:306661", "UMLS:C1876187"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100252", "name": "Tumoral calcinosis, hyperphosphatemic, familial, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["HFTC1", "Morbus Teutschlaender", "Teutschlaender disease, familial", "calcinosis, tumoral, with hyperphosphatemia", "hyperostosis-hyperphosphatemia syndrome", "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1", "tumoral calcinosis, Hyperphosphatemic, familial, 1", "tumoral calcinosis, hyperphosphatemic, familial", "tumoral calcinosis, hyperphosphatemic, familial, 1", "tumoral calcinosis, primary Hyperphosphatemic"], "xref": ["GARD:0015146", "MEDGEN:1642611", "OMIM:211900", "UMLS:C4692564"]}
{"category": ["biolink:Disease"], "description": "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.", "id": "MONDO:0100253", "name": "Roberts-sc phocomelia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Appelt-Gerken-Lenz syndrome", "ESCO2 spectrum disorder", "RBS", "Roberts syndrome", "Roberts syndrome/SC phocomelia", "Roberts tetraphocomelia syndrome", "Roberts-SC phocomelia syndrome", "SC phocomelia syndrome", "hypomelia hypotrichosis facial hemangioma syndrome", "long bone deficiencies associated with cleft lip-palate", "phocomelia-pseudothalidomide syndrome", "pseudothalidomide syndrome", "tetraphocomelia-cleft palate syndrome"], "xref": ["DOID:0050536", "DOID:5325", "GARD:0007387", "MEDGEN:95931", "MESH:C535687", "NCIT:C4681", "OMIM:268300", "OMIM:269000", "Orphanet:3103", "SCTID:48718006", "UMLS:C0392475"]}
{"category": ["biolink:Disease"], "description": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.", "id": "MONDO:0100254", "name": "Cacna1a-related complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027064"]}
{"category": ["biolink:Disease"], "description": "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.", "id": "MONDO:0100255", "name": "Adenosine kinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["ADK deficiency", "ADK hypermethioninemia", "MRT8", "adenosine kinase deficiency", "autosomal recessive intellectual disability 8", "hypermethioninemia due to adenosine kinase deficiency", "hypermethioninemia encephalopathy due to ADK deficiency", "hypermethioninemia encephalopathy due to adenosine kinase deficiency"], "xref": ["DOID:0111038", "GARD:0017321", "MEDGEN:1632232", "MESH:C567015", "OMIM:611094", "OMIM:614300", "Orphanet:289290", "UMLS:C4706555"]}
{"category": ["biolink:Disease"], "description": "Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.", "id": "MONDO:0100256", "name": "Ctnna1-related diffuse gastric and lobular breast cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026099"]}
{"category": ["biolink:Disease"], "description": "Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.", "id": "MONDO:0100257", "name": "Peroxisomal single enzyme/protein defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peroxisomal single enzyme/protein defect"], "xref": ["GARD:0012477"]}
{"category": ["biolink:Disease"], "description": "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.", "id": "MONDO:0100258", "name": "Phytanoyl-coa hydroxylase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PHYH deficiency", "PHYH related disorder of peroxisomal alpha oxidation", "phytanoyl-CoA hydroxylase deficiency"], "xref": ["GARD:0026100"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.", "id": "MONDO:0100259", "name": "Peroxisome biogenesis disorder due to pex1 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEX1 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX1 defect"], "xref": ["GARD:0026101", "OMIM:234580"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.", "id": "MONDO:0100260", "name": "Peroxisome biogenesis disorder due to pex2 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PEX2 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX2 defect"], "xref": ["GARD:0026102"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.", "id": "MONDO:0100261", "name": "Peroxisome biogenesis disorder due to pex3 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX3 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX3 defect"], "xref": ["GARD:0026103"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.", "id": "MONDO:0100262", "name": "Peroxisome biogenesis disorder due to pex5 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEX5 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX5 defect"], "xref": ["GARD:0026104"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.", "id": "MONDO:0100263", "name": "Peroxisome biogenesis disorder due to pex6 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX6 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX6 defect"], "xref": ["GARD:0026105", "OMIM:616617"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.", "id": "MONDO:0100264", "name": "Peroxisome biogenesis disorder due to pex10 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX10 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX10 defect"], "xref": ["GARD:0026106"]}
{"category": ["biolink:Disease"], "description": "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.", "id": "MONDO:0100265", "name": "Peroxisome biogenesis disorder due to pex5 defect in the pex7-binding domain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain"], "xref": ["GARD:0026107"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.", "id": "MONDO:0100266", "name": "Peroxisome biogenesis disorder due to pex12 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PEX12 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX12 defect"], "xref": ["GARD:0026108"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.", "id": "MONDO:0100267", "name": "Peroxisome biogenesis disorder due to pex13 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX13 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX13 defect"], "xref": ["GARD:0026109"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.", "id": "MONDO:0100268", "name": "Peroxisome biogenesis disorder due to pex14 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX14 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX14 defect"], "xref": ["GARD:0026110"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.", "id": "MONDO:0100269", "name": "Peroxisome biogenesis disorder due to pex16 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["PEX16 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX16 defect"], "xref": ["GARD:0026111"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.", "id": "MONDO:0100270", "name": "Peroxisome biogenesis disorder due to pex19 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX19 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX19 defect"], "xref": ["GARD:0026112"]}
{"category": ["biolink:Disease"], "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.", "id": "MONDO:0100271", "name": "Peroxisome biogenesis disorder due to pex26 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX26 related Zellweger spectrum disorder", "peroxisome biogenesis disorder due to PEX26 defect"], "xref": ["GARD:0026113"]}
{"category": ["biolink:Disease"], "description": "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.", "id": "MONDO:0100272", "name": "Peroxisome biogenesis disorder due to pex7 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX7 related peroxisome biogenesis disorder"], "xref": ["GARD:0026114"]}
{"category": ["biolink:Disease"], "description": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.", "id": "MONDO:0100273", "name": "Glyceronephosphate o-acyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GNPAT deficiency", "glyceronephosphate O-acyltransferase deficiency"], "xref": ["GARD:0026115"]}
{"category": ["biolink:Disease"], "description": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.", "id": "MONDO:0100274", "name": "Alkylglycerone-phosphate synthase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AGPS deficiency", "alkylglycerone-phosphate synthase deficiency"], "xref": ["GARD:0026116"]}
{"category": ["biolink:Disease"], "description": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.", "id": "MONDO:0100275", "name": "Fatty acyl-coa reductase defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FAR1 defect", "fatty acyl-CoA reductase defects"], "xref": ["GARD:0026117"]}
{"category": ["biolink:Disease"], "description": "A disease that has its basis in the disruption of peroxisome and mitochondrial fission.", "id": "MONDO:0100276", "name": "Disorder of defective peroxisomal and mitochondrial fission", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of defective peroxisomal and mitochondrial fission", "peroxisome and mitochronrial fission disease"], "xref": ["GARD:0026118"]}
{"category": ["biolink:Disease"], "description": "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.", "id": "MONDO:0100277", "name": "Disorder of peroxisomal alpha oxidation", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of peroxisomal alpha oxidation"], "xref": ["GARD:0026119"]}
{"category": ["biolink:Disease"], "description": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.", "id": "MONDO:0100278", "name": "Alanine glyoxylate aminotransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["AGXT defect", "AGXT deficiency", "alanine glyoxylate aminotransferase deficiency"], "xref": ["GARD:0026120"]}
{"category": ["biolink:Disease"], "description": "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.", "id": "MONDO:0100279", "name": "Peroxisome biogenesis disorder due to pex11b defect", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PEX11B related peroxisome biogenesis disorder", "peroxisome biogenesis disorder due to PEX11B defect"], "xref": ["GARD:0026121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100280", "name": "Waldenstrom macroglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Waldenstrom macroglobulinemia", "Waldenstrom's macroglobulinemia", "Waldenström Macroglobulinemia", "Waldenström macroglobulinemia"], "xref": ["DOID:0060901", "EFO:0009441", "GARD:0007872", "ICD10CM:C88.0", "MEDGEN:6174", "MESH:D008258", "MedDRA:10047801", "NCIT:C80307", "NORD:1834", "OMIMPS:153600", "ONCOTREE:WM", "Orphanet:33226", "UMLS:C0024419"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100281", "name": "Macroglobulinemia, waldenstrom, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:predisposition", "mondo:rare"], "synonym": ["WM1", "macroglobulinemia, Waldenstrom, somatic", "macroglobulinemia, waldenstrom, susceptibility to, 1"], "xref": ["GARD:0026122", "MEDGEN:320546", "OMIM:153600", "UMLS:C1835192"]}
{"category": ["biolink:Disease"], "description": "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.", "id": "MONDO:0100283", "name": "Overgrowth syndrome and/or cerebral malformations due to abnormalities in mtor pathway genes", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"], "xref": ["GARD:0026123"]}
{"category": ["biolink:Disease"], "description": "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.", "id": "MONDO:0100284", "name": "X-linked intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["X-linked intellectual disability"], "xref": ["MEDGEN:211749", "UMLS:C1136249"]}
{"category": ["biolink:Disease"], "description": "A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.", "id": "MONDO:0100285", "name": "Extrahepatic biliary atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EHBA", "biliary atresia, extrahepatic"], "xref": ["GARD:0000886", "MEDGEN:1621383", "NCIT:C97069", "OMIM:210500", "UMLS:C4520983", "icd11.foundation:1813934523"]}
{"category": ["biolink:Disease"], "description": "Bronciolitis caused by infection with respiratory syncytial virus.", "id": "MONDO:0100286", "name": "Respiratory syncytial virus bronchiolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RSV bronchiolitis"], "xref": ["MEDGEN:547277", "UMLS:C0276340"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.", "id": "MONDO:0100287", "name": "Pole-related polyposis and colorectal cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026124"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.", "id": "MONDO:0100288", "name": "Enhanced s-cone syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["enhanced S-cone syndrome"], "xref": ["DOID:0090059", "GARD:0026125", "MEDGEN:341446", "MESH:C564835", "OMIMPS:268100", "UMLS:C1849394"]}
{"category": ["biolink:Disease"], "description": "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).", "id": "MONDO:0100289", "name": "Goldmann-favre syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["enhanced S-cone syndrome 1", "retinoschisis with early nyctalopia"], "xref": ["DOID:0061231", "GARD:0010781", "MEDGEN:87387", "OMIM:268100", "Orphanet:53540", "SCTID:232065000", "UMLS:C0339541", "icd11.foundation:890235941"]}
{"category": ["biolink:Disease"], "description": "The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.", "id": "MONDO:0100290", "name": "Colon serrated polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026126", "MEDGEN:474430", "NCIT:C96470", "UMLS:C3272797"]}
{"category": ["biolink:Disease"], "description": "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.", "id": "MONDO:0100291", "name": "Early t cell progenitor acute lymphoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETP ALL", "ETP-ALL", "early T acute lymphoblastic leukaemia", "early T acute lymphoblastic leukemia", "early T-cell precursor acute lymphoblastic leukaemia", "early T-cell precursor acute lymphoblastic leukemia", "early T-cell precursor lymphoblastic leukaemia", "early T-cell precursor lymphoblastic leukemia"], "xref": ["GARD:0026127", "MEDGEN:1385175", "NCIT:C130043", "UMLS:C4329780"]}
{"category": ["biolink:Disease"], "description": "Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.", "id": "MONDO:0100292", "name": "Carey-fineman-ziter syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFZS2"], "xref": ["DOID:0061116", "GARD:0026128", "MEDGEN:1800921", "OMIM:619941", "UMLS:C5677012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100293", "name": "Diaphragmatic malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026129"]}
{"category": ["biolink:Disease"], "description": "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.", "id": "MONDO:0100294", "name": "Mitochondrial complex ii deficiency, nuclear type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["isolated mitochondrial respiratory chain complex II deficiency", "isolated succinate-CoQ reductase deficiency", "isolated succinate-coenzyme Q reductase deficiency", "isolated succinate-ubiquinone reductase deficiency", "mitochondrial complex II deficiency, nuclear type 1"], "xref": ["DOID:0060537", "GARD:0005053", "ICD9:277.6", "MEDGEN:1814582", "MESH:C565375", "OMIM:252011", "Orphanet:3208", "SCTID:124165006", "UMLS:C5700310"]}
{"category": ["biolink:Disease"], "description": "Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.", "id": "MONDO:0100296", "name": "Olmsted syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1"], "xref": ["DOID:0112013", "GARD:0015818", "MEDGEN:1778121", "OMIM:614594", "UMLS:C5542829"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100297", "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060989", "MEDGEN:1778119", "OMIM:617877", "UMLS:C5542952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100298", "name": "Abdominal wall malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026130"]}
{"category": ["biolink:Disease"], "description": "PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.", "id": "MONDO:0100299", "name": "Pax5-related b lymphopenia and autism spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hypogammaglobulinemia and autism spectrum disorder"], "xref": ["GARD:0026131"]}
{"category": ["biolink:Disease"], "description": "An inherited susceptibility or predisposition to developing capillary infantile hemangioma.", "id": "MONDO:0100301", "name": "Hemangioma, capillary infantile, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0027997", "MEDGEN:864857", "UMLS:C4016420"]}
{"category": ["biolink:Disease"], "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.", "id": "MONDO:0100302", "name": "Ladd syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LADD1", "lacrimoauriculodentodigital syndrome 1"], "xref": ["GARD:0026132", "MEDGEN:1824096", "OMIM:149730", "UMLS:C5774323"]}
{"category": ["biolink:Disease"], "description": "Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.", "id": "MONDO:0100303", "name": "Ichthyosis, annular epidermolytic 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0015417", "OMIM:607602"]}
{"category": ["biolink:Disease"], "description": "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.", "id": "MONDO:0100304", "name": "Disorder of bile acid aminotransferase", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of bile acid aminotransferase"], "xref": ["GARD:0026133"]}
{"category": ["biolink:Disease"], "description": "Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.", "id": "MONDO:0100305", "name": "Bile acid coa:amino acid n-acyltransferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BAAT deficiency", "bile acid CoA:amino acid N-acyltransferase deficiency"], "xref": ["GARD:0026134"]}
{"category": ["biolink:Disease"], "description": "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.", "id": "MONDO:0100306", "name": "Disorder of defective peroxisome oxidative status", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of defective peroxisome oxidative status"], "xref": ["GARD:0026135"]}
{"category": ["biolink:Disease"], "description": "An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.", "id": "MONDO:0100307", "name": "Adult refsum disease due to pex7 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adult Refsum disease due to PEX7 defect"], "xref": ["GARD:0026136"]}
{"category": ["biolink:Disease"], "description": "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.", "id": "MONDO:0100308", "name": "Atactic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ataxic disorder"]}
{"category": ["biolink:Disease"], "description": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100309", "name": "Hereditary ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["rare hereditary ataxia"], "xref": ["DOID:0050951", "EFO:0009671", "GARD:0020286", "ICD10CM:G11", "ICD10WHO:G11", "MEDGEN:2478", "MESH:C531684", "Orphanet:183518", "SCTID:763597000", "UMLS:C0004138", "icd11.foundation:442347652"]}
{"category": ["biolink:Disease"], "description": "Cerebellar ataxia that is transmitted from parent to child.", "id": "MONDO:0100310", "name": "Hereditary cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["cerebellar hereditary ataxia", "hereditary cerebellar ataxia"], "xref": ["GARD:0026137", "MEDGEN:78726", "NCIT:C140268", "UMLS:C0270749"]}
{"category": ["biolink:Disease"], "description": "Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.", "id": "MONDO:0100311", "name": "Sensory ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:66020", "UMLS:C0240991"]}
{"category": ["biolink:Disease"], "description": "Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.", "id": "MONDO:0100312", "name": "Vestibular ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:863489", "UMLS:C4015052"]}
{"category": ["biolink:Disease"], "description": "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.", "id": "MONDO:0100313", "name": "Focal segmental glomerulosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FGS (focal glomerular sclerosis)", "FSGS", "FSGS - focal segmental glomerulosclerosis"], "xref": ["DOID:1312", "EFO:0004236", "GARD:0006517", "ICD9:582.1", "MEDGEN:4904", "MESH:D005923", "NCIT:C37308", "SCTID:236403004", "UMLS:C0017668"]}
{"category": ["biolink:Disease"], "description": "Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.", "id": "MONDO:0100314", "name": "Gyg1-related disorder of glycogen metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026138"]}
{"category": ["biolink:Disease"], "description": "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.", "id": "MONDO:0100315", "name": "Isolated adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["isolated adrenal insufficiency"], "xref": ["GARD:0026139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100316", "name": "Long qt syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:prototype_pattern", "mondo:rare"], "synonym": ["LQT1", "long QT syndrome 1", "long QT syndrome type 1", "ventricular fibrillation with prolonged QT interval"], "xref": ["DOID:0110644", "GARD:0026140", "MEDGEN:1641146", "MedDRA:10039211", "NCIT:C85049", "OMIM:192500", "SCTID:20852007", "UMLS:C4551647"]}
{"category": ["biolink:Disease"], "description": "A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).", "id": "MONDO:0100319", "name": "Covid-19–associated multisystem inflammatory syndrome in adults", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MIS-A"], "xref": ["GARD:0026142"]}
{"category": ["biolink:Disease"], "description": "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.", "id": "MONDO:0100320", "name": "Post-covid-19 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.", "id": "MONDO:0100322", "name": "Non-zellweger spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-Zellweger spectrum disorder"], "xref": ["GARD:0026143"]}
{"category": ["biolink:Disease"], "description": "A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.", "id": "MONDO:0100323", "name": "Inherited pseudohypoaldosteronism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hereditary pseudohypoaldosteronism"], "xref": ["GARD:0026144"]}
{"category": ["biolink:Disease"], "description": "A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.", "id": "MONDO:0100324", "name": "Primary focal segmental glomerulosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026145", "MEDGEN:313617", "UMLS:C1709661"]}
{"category": ["biolink:Disease"], "description": "A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.", "id": "MONDO:0100325", "name": "Odontochondrodysplasia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Goldblatt chondrodysplasia", "Goldblatt syndrome", "ODCD", "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome"], "xref": ["GARD:0008717", "MEDGEN:1784281", "OMIM:184260", "Orphanet:166272", "SCTID:717823001", "UMLS:C5542277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100326", "name": "Glanzmann thrombasthenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Glanzmann thrombasthenia"], "xref": ["GARD:0002478", "MEDGEN:52736", "NORD:1186", "OMIMPS:273800", "Orphanet:849", "UMLS:C0040015", "icd11.foundation:1927726560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100327", "name": "Hypercholanemia, familial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["familial hypercholanemia", "hypercholanemia, familial"], "xref": ["GARD:0026146", "MEDGEN:334689", "OMIMPS:607748", "UMLS:C1843139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100328", "name": "Microcephaly, epilepsy, and diabetes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:481870", "OMIMPS:614231", "UMLS:C3280240"]}
{"category": ["biolink:Disease"], "description": "The initial viral infectious disase that causes illness.", "id": "MONDO:0100329", "name": "Primary viral infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.", "id": "MONDO:0100330", "name": "Disease arising from reactivation of latent virus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["latent infection"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to a nerve agent or gas.", "id": "MONDO:0100331", "name": "Nerve agent poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to a local anesthetic.", "id": "MONDO:0100335", "name": "Local anesthetic poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["local anesthetic poisoning"]}
{"category": ["biolink:Disease"], "description": "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.", "id": "MONDO:0100337", "name": "Sec61a1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["SEC61A1 deficiency"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100338", "name": "Urinary tract infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["urinary tract infection (disease)"], "xref": ["DOID:0080784", "EFO:0003103", "MEDGEN:52943", "MESH:D014552", "UMLS:C0042029"]}
{"category": ["biolink:Disease"], "description": "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.", "id": "MONDO:0100339", "name": "Friedreich ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["FA", "FRDA", "Friedreich ataxia", "Friedreich's Ataxia", "Friedreich's ataxia"], "xref": ["DOID:12705", "GARD:0006468", "ICD10CM:G11.11", "ICD9:334.0", "MEDGEN:5276", "MESH:D005621", "MedDRA:10017374", "NCIT:C84718", "NORD:818", "Orphanet:95", "SCTID:10394003", "UMLS:C0016719", "icd11.foundation:980686666"]}
{"category": ["biolink:Disease"], "description": "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.", "id": "MONDO:0100340", "name": "Friedreich ataxia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FRDA1", "Friedreich ataxia 1", "Friedreich ataxia type 1"], "xref": ["DOID:0111218", "GARD:0026147", "MEDGEN:383962", "MESH:C565561", "OMIM:229300", "UMLS:C1856689"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.", "id": "MONDO:0100341", "name": "Fire ant poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.", "id": "MONDO:0100342", "name": "Malignant glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glial cell tumour", "glioma, malignant", "high grade glioma", "high-grade glioma", "malignant glial neoplasm", "malignant glial tumor", "malignant glial tumour", "malignant glioma", "malignant neuroglial neoplasm", "malignant neuroglial tumor", "malignant neuroglial tumour"], "xref": ["DOID:3070", "GARD:0026148", "ICDO:9380/3", "MEDGEN:107826", "MedDRA:10018338", "NCIT:C4822", "UMLS:C0555198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100344", "name": "Bartter disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["BARTS1", "Bartter disease type 1", "Bartter syndrome caused by mutation in SLC12A1", "Bartter syndrome type 1", "Bartter syndrome, type 1", "SLC12A1 Bartter syndrome", "hyperprostaglandin E syndrome 1"], "xref": ["DOID:0110142", "GARD:0022482", "MEDGEN:355727", "MESH:C537652", "OMIM:601678", "Orphanet:620217", "SCTID:700107006", "UMLS:C1866495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100345", "name": "Lactose intolerance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["lactose intolerance", "lactose intolerance (disease)"], "xref": ["DOID:10604", "EFO:1000062", "HP:0004789", "ICD10CM:E73", "ICD10WHO:E73", "ICD9:271.3", "MEDGEN:6001", "MESH:D007787", "NCIT:C3154", "SCTID:267425008", "UMLS:C0022951", "icd11.foundation:1026224967"]}
{"category": ["biolink:Disease"], "description": "Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.", "id": "MONDO:0100346", "name": "Microcephaly with or without short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100347", "name": "Carcinoid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["carcinoid syndrome", "malignant carcinoid syndrome"], "xref": ["EFO:1000852", "GARD:0005994", "ICD10CM:E34.0", "ICD9:259.2", "MEDGEN:6191", "MedDRA:10007270", "NCIT:C3215", "NORD:890", "Orphanet:100093", "SCTID:35868009", "UMLS:C0024586", "icd11.foundation:111763187"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.", "id": "MONDO:0100348", "name": "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["NEDMILG, AR", "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive"], "xref": ["GARD:0018534", "MEDGEN:1731507", "OMIM:619091", "UMLS:C5436783"]}
{"category": ["biolink:Disease"], "description": "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.", "id": "MONDO:0100349", "name": "Coach syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["JS-H", "Joubert syndrome with congenital hepatic fibrosis", "Joubert syndrome with hepatic defect", "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis", "gentile syndrome"], "xref": ["DOID:0111589", "GARD:0001410", "MEDGEN:387879", "MESH:C536430", "Orphanet:1454", "SCTID:721847002", "UMLS:C1857662"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100350", "name": "Neuronopathy, distal hereditary motor, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["distal HMN V", "distal hereditary motor neuropathy type V", "distal spinal muscular atrophy type 5"], "xref": ["DOID:0111203", "GARD:0016955", "MEDGEN:318838", "MESH:C563443", "Orphanet:139536", "UMLS:C1833308"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.", "id": "MONDO:0100351", "name": "Pold1-related polyposis and colorectal cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026151"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100352", "name": "Episodic kinesigenic dyskinesia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PRRT2 episodic kinesigenic dyskinesia", "PxMD-PRRT2", "episodic kinesigenic dyskinesia 1", "episodic kinesigenic dyskinesia caused by mutation in PRRT2", "episodic kinesigenic dyskinesia type 1"], "xref": ["DOID:0090053", "GARD:0026152", "ICD9:333.5", "MEDGEN:1636366", "MESH:C537180", "OMIM:128200", "SCTID:609221008", "UMLS:C4552000"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with herpesvirus-7.", "id": "MONDO:0100353", "name": "Hhv-7 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HHV-7 infection", "herpesvirus-7 infectious disease"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100354", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Berdon syndrome"], "xref": ["DOID:0060610", "GARD:0015195", "MEDGEN:1778116", "MESH:C536138", "NCIT:C98982", "OMIM:249210", "Orphanet:2241", "SCTID:253781004", "UMLS:C5542316"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100358", "name": "Ectodermal dysplasia wnt10a related", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["ectodermal dysplasia WNT10A related"], "xref": ["GARD:0026153"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with herpes simplex type 1.", "id": "MONDO:0100359", "name": "Herpes simplex type 1 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with herpes simplex type 2.", "id": "MONDO:0100360", "name": "Herpes simplex type 2 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).", "id": "MONDO:0100361", "name": "Lip herpes simplex type 1 infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any herpes simplex type 2 infectious disease that involves the lip.", "id": "MONDO:0100362", "name": "Lip herpes simplex type 2 infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any herpes simplex type 2 infectious disease that involves the genitals.", "id": "MONDO:0100363", "name": "Genital herpes simplex type 2 infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any herpes simplex type 1 infectious disease that involves the genitals.", "id": "MONDO:0100364", "name": "Genital herpes simplex type 1 infectious disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.", "id": "MONDO:0100365", "name": "Mucopolysaccharidosis or mucopolysaccharidosis-like disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026154"]}
{"category": ["biolink:Disease"], "description": "Any disorder that is realized in response to an exposure to occupation.", "id": "MONDO:0100366", "name": "Occupational disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:45175", "UMLS:C0028797"]}
{"category": ["biolink:Disease"], "description": "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.", "id": "MONDO:0100367", "name": "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["nova syndrome"], "xref": ["GARD:0004014", "MEDGEN:1682989", "Orphanet:2703", "UMLS:C5191040"]}
{"category": ["biolink:Disease"], "description": "A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.", "id": "MONDO:0100368", "name": "Rpe65-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RPE65-related recessive retinopathy", "recessive RPE65 retinopathy"], "xref": ["GARD:0026155"]}
{"category": ["biolink:Disease"], "description": "A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.", "id": "MONDO:0100370", "name": "Acute hepatitis b virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute hepatitis B"], "xref": ["ICD10CM:B16", "NCIT:C157781", "icd11.foundation:1337277167"]}
{"category": ["biolink:Disease"], "description": "A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.", "id": "MONDO:0100371", "name": "Acute hepatitis c virus infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acute hepatitis C"], "xref": ["ICD10CM:B17.1", "NCIT:C157782", "icd11.foundation:1517862018"]}
{"category": ["biolink:Disease"], "description": "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.", "id": "MONDO:0100372", "name": "Disorder of peroxisomal transporter", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disorder of peroxisomal transporter defect"], "xref": ["GARD:0026156"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)", "id": "MONDO:0100373", "name": "Acute myeloid leukemia, inv(16)(p13.1;q22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, inv(16)(p13", "AML, inv(16)(p13.1", "AML, inv(16)(p13.1q22)", "AML, inv(16)(p13.1q22.1)", "AML, inv(16)(p13q22)", "q22)", "q22.1)"], "xref": ["GARD:0026157", "NCIT:C9018"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)", "id": "MONDO:0100374", "name": "Acute myeloid leukemia, t(16;16)(p13.1;q22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["16)(p13", "16)(p13.1", "16)(p13.1q22)", "16)(p13.1q22.1)", "16)(p13q22)", "AML, t(16", "q22)", "q22.1)"], "xref": ["GARD:0026158", "NCIT:C9019"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)", "id": "MONDO:0100375", "name": "Acute myeloid leukemia, t(15;17)(q24;q21)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["17)(q22", "17)(q24", "AML, t(15", "q12)", "q21)"], "xref": ["GARD:0026159", "NCIT:C36055"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)", "id": "MONDO:0100376", "name": "Acute myeloid leukemia, t(9;11)(p21.3;q23.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["11)(p21.3", "11)(p22", "AML, t(9", "q23)", "q23.3)"], "xref": ["GARD:0026160"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)", "id": "MONDO:0100377", "name": "Acute myeloid leukemia, t(10;11)(p12;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["11)(p12", "AML, t(10", "q23)"], "xref": ["GARD:0026161", "NCIT:C132101"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)", "id": "MONDO:0100378", "name": "Acute myeloid leukemia, t(10;11)(p11.2;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["11)(p11.2", "AML, t(10", "q23)"], "xref": ["GARD:0026162"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)", "id": "MONDO:0100379", "name": "Acute myeloid leukemia, t(1;11)(q21;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["11)(q21", "AML, t(1", "q23)"], "xref": ["GARD:0026163"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)", "id": "MONDO:0100380", "name": "Acute myeloid leukemia, t(4;11)(q21;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["11)(q21", "AML, t(4", "q23)", "q23.3)"], "xref": ["GARD:0026164"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)", "id": "MONDO:0100381", "name": "Acute myeloid leukemia, t(6;11)(q27;q23)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["11)(q27", "AML, t(6", "q23)", "q23.3)"], "xref": ["GARD:0026165", "NCIT:C132105"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)", "id": "MONDO:0100382", "name": "Acute myeloid leukemia, t(6;9)(p23;q34.1)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["9)(p22", "9)(p22.3", "9)(p23", "AML, t(6", "q34)", "q34.1)"], "xref": ["DOID:0081080", "GARD:0026166", "NCIT:C82423"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)", "id": "MONDO:0100383", "name": "Acute myeloid leukemia, t(11;19)(q23;p13)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["19)(q23", "AML, t(11", "p13)"], "xref": ["GARD:0026167"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)", "id": "MONDO:0100384", "name": "Acute myeloid leukemia, t(11;19)(q23;p13.1)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["19)(q23", "AML, t(11", "p13.1)"], "xref": ["GARD:0026168"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)", "id": "MONDO:0100385", "name": "Acute myeloid leukemia, t(11;19)(q23.3;p13.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["19)(q23", "19)(q23.3", "AML, t(11", "p13.3)"], "xref": ["GARD:0026169"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)", "id": "MONDO:0100386", "name": "Acute myeloid leukemia, t(v;11q23.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["11)(v", "11q23.3)", "AML, 11q23.3 Translocation", "AML, t(11", "AML, t(V", "AML, t(v", "q23)", "q23.3)", "v)", "v)(q23", "v)(q23.3"], "xref": ["GARD:0026170"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)", "id": "MONDO:0100387", "name": "Acute myeloid leukemia, monosomy 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, Monosomy 7"], "xref": ["GARD:0026171"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)", "id": "MONDO:0100388", "name": "Acute myeloid leukemia, monosomy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, Monosomy 5"], "xref": ["GARD:0026172"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)", "id": "MONDO:0100389", "name": "Acute myeloid leukemia, trisomy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, Trisomy 8", "AML, tri8"], "xref": ["GARD:0026173", "NCIT:C162775"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)", "id": "MONDO:0100390", "name": "Acute myeloid leukemia, der12p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, der(12p)", "AML, der12p"], "xref": ["GARD:0026174"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)", "id": "MONDO:0100391", "name": "Acute myeloid leukemia, t(2;12)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["12)", "AML, t(2"], "xref": ["GARD:0026175"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)", "id": "MONDO:0100392", "name": "Acute myeloid leukemia, t(11;17)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["17)", "AML, t(11"], "xref": ["GARD:0026176"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)", "id": "MONDO:0100393", "name": "Acute myeloid leukemia, t(8;16)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["16)", "AML, t(8"], "xref": ["GARD:0026177"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)", "id": "MONDO:0100394", "name": "Acute myeloid leukemia, t(1;22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["22)", "AML, t(1"], "xref": ["GARD:0026178"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)", "id": "MONDO:0100395", "name": "Acute myeloid leukemia, t(5;11)(q35;p15)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["11)(q35", "AML, t(5", "p15)"], "xref": ["GARD:0026179", "NCIT:C131502"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)", "id": "MONDO:0100396", "name": "Acute myeloid leukemia, t(7;12)(q36;p13)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["12)(q36", "AML, t(7", "p13)"], "xref": ["GARD:0026180", "NCIT:C122690"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)", "id": "MONDO:0100397", "name": "Acute myeloid leukemia, t(9;22)(q34.1;q11.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["22)(q34", "22)(q34.1", "AML, t(9", "q11)", "q11.2)"], "xref": ["GARD:0026181"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)", "id": "MONDO:0100398", "name": "Acute myeloid leukemia, inv(3)(q21.3;q26.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, inv(3)(q21.3", "AML, inv(3)(q21.3q26.2)", "AML, inv(3)(q21q26.2)", "q26.2)"], "xref": ["GARD:0026182", "NCIT:C122716"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)", "id": "MONDO:0100399", "name": "Acute myeloid leukemia, t(3;3)(q21.3;q26.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["3)(q21", "3)(q21.3", "3)(q21.3q26.2)", "3)(q26", "AML, t(3", "q21)", "q26.2)"], "xref": ["GARD:0026183", "NCIT:C122717"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)", "id": "MONDO:0100400", "name": "Acute myeloid leukemia, t(3;12)(q23;p12.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["12)(q23", "AML, t(3", "p12.3)"], "xref": ["GARD:0026184"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)", "id": "MONDO:0100401", "name": "Acute myeloid leukemia, del(5q31-q32)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, 5q31-32 Deletion", "AML, del(5)(q31-q32)", "AML, del(5)(q31q32)", "AML, del(5q31-q32)"], "xref": ["GARD:0026185"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)", "id": "MONDO:0100402", "name": "Acute myeloid leukemia, del(13q14-q21)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, 13q14-q21 Deletion", "AML, del(13)(q14-q21)", "AML, del(13)(q14q21)", "AML, del(13q)(13q14-21)", "AML, del(13q14-q21)"], "xref": ["GARD:0026186"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)", "id": "MONDO:0100403", "name": "Acute myeloid leukemia, loss of chromosome 17p", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AML, del(17p)", "AML, loss of chromosome 17p"], "xref": ["GARD:0026187"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)", "id": "MONDO:0100404", "name": "Acute myeloid leukemia, mll gene rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, KMT2A Gene Rearrangement", "AML, KMT2A Rearrangement", "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement", "AML, Lysine Methyltransferase 2A Gene Rearrangement", "AML, MLL Rearrangement", "AML, MLL gene rearrangement", "AML, Mixed Lineage Leukaemia Gene Rearrangement", "AML, Mixed Lineage Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement", "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement", "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement"], "xref": ["DOID:0081094", "GARD:0026188", "NCIT:C174129"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)", "id": "MONDO:0100405", "name": "Acute myeloid leukemia, non-kmt2a mllt10 rearrangement positive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, Non-KMT2A MLLT10 Rearrangement", "AML, Non-KMT2A MLLT10 rearrangement positive", "AML, Non-MLL MLLT10 Rearrangement", "AML, Non-MLL MLLT10 Rearrangement Positive"], "xref": ["GARD:0026189"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)", "id": "MONDO:0100406", "name": "Acute myeloid leukemia, inv(16)(p13.3;q24.3)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, inv(16)(p13", "AML, inv(16)(p13.3", "AML, inv(16)(p13.3q24.3)", "AML, inv(16)(p13q24)", "q24)", "q24.3)"], "xref": ["GARD:0026190"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)", "id": "MONDO:0100407", "name": "Acute myeloid leukemia, t(11;15)(p15;q35)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["15)(p15", "AML, t(11", "q35)"], "xref": ["GARD:0026191", "NCIT:C131504"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)", "id": "MONDO:0100408", "name": "Acute myeloid leukemia, t(16;21)(q24;q22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["21)(q24", "AML, t(16", "q22)"], "xref": ["GARD:0026192"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)", "id": "MONDO:0100409", "name": "Acute myeloid leukemia, t(3;5)(q25;q34)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["5)(q25", "AML, t(3", "q34)"], "xref": ["DOID:0081092", "GARD:0026193", "NCIT:C7600"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)", "id": "MONDO:0100410", "name": "Acute myeloid leukemia, t(16;21)(p11;q22)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["21)(p11", "21)(p11.2", "AML, t(16", "q22)", "q22.2)"], "xref": ["GARD:0026194"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)", "id": "MONDO:0100412", "name": "Acute myeloid leukemia, monoallelic cebpa gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AML, C/EBP-Alpha Monoallelic Gene Mutation", "AML, C/EBPalpha Monoallelic Gene Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation", "AML, CEBP Monoallelic Gene Mutation", "AML, CEBPA Monoallelic Gene Mutation", "AML, CEBPA Monoallelic Mutation", "AML, moCEBPA", "AML, monoallelic CEBPA gene mutation"], "xref": ["GARD:0026195"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)", "id": "MONDO:0100413", "name": "Acute myeloid leukemia, biallelic cebpa gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, C/EBP-Alpha Biallelic Gene Mutation", "AML, C/EBPalpha Biallelic Gene Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation", "AML, CEBP Biallelic Gene Mutation", "AML, CEBPA Biallelic Gene Mutation", "AML, CEBPA Biallelic Mutation", "AML, biCEBPA", "AML, biallelic CEBPA gene mutation"], "xref": ["DOID:0081090", "GARD:0026196", "NCIT:C129782"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)", "id": "MONDO:0100414", "name": "Acute myeloid leukemia, cebpa gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AML, C/EBP-Alpha Gene Mutation", "AML, C/EBPalpha Mutation", "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation", "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation", "AML, CEBP Gene Mutation", "AML, CEBPA Mutation", "AML, CEBPA gene mutation"], "xref": ["GARD:0026197", "NCIT:C151898"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)", "id": "MONDO:0100415", "name": "Acute myeloid leukemia, flt3 internal tandem duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, Activating FLT3-ITD Gene Mutation", "AML, Activating FLT3-ITD Mutation", "AML, FLT3 ITD", "AML, FLT3 internal tandem duplication", "AML, FLT3-ITD", "AML, FLT3-ITD Activating Mutation", "AML, FLT3-ITD Mutation", "AML, FLT3/ITD Mutation"], "xref": ["GARD:0026198", "NCIT:C126748"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)", "id": "MONDO:0100416", "name": "Acute myeloid leukemia, flt3 tyrosine kinase domain point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, FLT3 tyrosine kinase domain point mutation", "AML, FLT3-TKD Point Mutation", "AML, FLT3/TKD Point Mutation"], "xref": ["GARD:0026199"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)", "id": "MONDO:0100417", "name": "Acute myeloid leukemia, wt1 gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, GUD Gene Mutation", "AML, WAGR Gene Mutation", "AML, WIT-2 Gene Mutation", "AML, WT1 gene mutation", "AML, WT1 mutation", "AML, WT33 Gene Mutation", "AML, Wilms Tumor 1 Gene Mutation", "AML, Wilms Tumour 1 Gene Mutation"], "xref": ["GARD:0026200"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)", "id": "MONDO:0100418", "name": "Acute myeloid leukemia, kit exon 17 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, CD117 Exon 17 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation", "AML, KIT exon 17 mutation", "AML, c-KIT Exon 17 Mutation", "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation"], "xref": ["GARD:0026201"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)", "id": "MONDO:0100419", "name": "Acute myeloid leukemia, kit exon 8 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, CD117 Exon 8 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation", "AML, KIT exon 8 mutation", "AML, c-KIT Exon 8 Mutation", "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation"], "xref": ["GARD:0026202"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)", "id": "MONDO:0100420", "name": "Acute myeloid leukemia, kit gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, C-KIT Mutation", "AML, CD117 Gene Mutation", "AML, CD117 Mutation", "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation", "AML, KIT gene mutation", "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation", "AML, c-KIT Gene Mutation"], "xref": ["GARD:0026203"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)", "id": "MONDO:0100421", "name": "Acute myeloid leukemia, gata1 gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, ERYF1 Gene Mutation", "AML, GATA Binding Protein 1 Gene Mutation", "AML, GATA-1 Gene Mutation", "AML, GATA1 Mutation", "AML, GATA1 gene mutation", "AML, GF-1 Gene Mutation", "AML, GF1 Gene Mutation", "AML, NF-E1 Gene Mutation", "AML, NFE1 Gene Mutation"], "xref": ["GARD:0026204"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)", "id": "MONDO:0100422", "name": "Acute myeloid leukemia, runx1 gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, AML1 Gene Mutation", "AML, AML1 Mutation", "AML, AMLCR1 Gene Mutation", "AML, Acute Myeloid Leukaemia 1 Gene Mutation", "AML, Acute Myeloid Leukemia 1 Gene Mutation", "AML, CBFA2 Gene Mutation", "AML, CBFalpha2 Mutation", "AML, RUNX1 gene mutation", "AML, Runt-Related Transcription Factor 1 Gene Mutation"], "xref": ["DOID:0081091", "GARD:0026205", "NCIT:C129786"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)", "id": "MONDO:0100423", "name": "Acute myeloid leukemia, ptpn11 gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, BPTP3 Gene Mutation", "AML, PTP-1D Gene Mutation", "AML, PTP2C Gene Mutation", "AML, PTPN11 gene mutation", "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation", "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation", "AML, SH-PTP2 Gene Mutation", "AML, SHP-2 Gene Mutation", "AML, SHP2 Gene Mutation"], "xref": ["GARD:0026206"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)", "id": "MONDO:0100424", "name": "Acute myeloid leukemia, nras gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, N-RAS Gene Mutation", "AML, NRAS gene mutation", "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation"], "xref": ["GARD:0026207"]}
{"category": ["biolink:Disease"], "description": "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)", "id": "MONDO:0100425", "name": "Acute myeloid leukemia, kras gene mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AML, KRAS Gene Mutation", "AML, KRAS gene mutation", "AML, KRAS-2 Gene Mutation", "AML, KRAS2 Gene Mutation", "AML, c-K-ras Gene Mutation", "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation"], "xref": ["GARD:0026208"]}
{"category": ["biolink:Disease"], "description": "A progressive bulbar palsy of childhood that occurs during childhood.", "id": "MONDO:0100428", "name": "Progressive bulbar palsy of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Fazio-Londe disease"], "xref": ["DOID:0080632", "GARD:0026209", "MEDGEN:140728", "OMIM:211500", "Orphanet:56965", "SCTID:230246005", "UMLS:C0393540"]}
{"category": ["biolink:Disease"], "description": "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.", "id": "MONDO:0100429", "name": "Intrahepatic cholestasis of pregnancy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["gravidic intrahepatic cholestasis", "intrahepatic cholestasis of pregnancy", "pregnancy related cholestasis", "pregnancy-related cholestasis", "recurrent intrahepatic cholestasis of pregnancy"], "xref": ["DOID:0070227", "GARD:0009804", "MEDGEN:82788", "MESH:C535932", "Orphanet:69665", "UMLS:C0268318", "icd11.foundation:1576251337"]}
{"category": ["biolink:Disease"], "description": "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.", "id": "MONDO:0100430", "name": "Fibrotic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hepatic fibrosis (disease)", "liver fibrosis (disease)"]}
{"category": ["biolink:Disease"], "description": "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.", "id": "MONDO:0100431", "name": "Migraine without aura", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["common migraine"], "xref": ["DOID:12783", "ICD10CM:G43.0", "MEDGEN:137899", "MESH:D020326", "NCIT:C117004", "SCTID:56097005", "UMLS:C0338480", "icd11.foundation:2048783472"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.", "id": "MONDO:0100432", "name": "Fnip1-associated syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FNIP1 deficiency", "absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome", "immunodeficiency with cardiomyopathy and pre-excitation syndrome"]}
{"category": ["biolink:Disease"], "description": "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.", "id": "MONDO:0100433", "name": "Actb-associated syndromic thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ACTB-AST", "thrombocytopenia 8, with dysmorphic features and developmental delay"], "xref": ["GARD:0026211", "MEDGEN:1851006", "OMIM:620475", "Orphanet:674653", "UMLS:C5882677"]}
{"category": ["biolink:Disease"], "description": "A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.", "id": "MONDO:0100434", "name": "Chronic mountain sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Monge's disease"], "xref": ["SCTID:241975000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100435", "name": "Schwartz-jampel syndrome type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SJA syndrome", "SJS1", "Schwartz-Jampel syndrome type 1"], "xref": ["DOID:0090005", "GARD:0026212", "MEDGEN:1647990", "OMIM:255800", "UMLS:C4551479"]}
{"category": ["biolink:Disease"], "description": "Any cataract in which the cause of the disease is a mutation in the CRYGC gene.", "id": "MONDO:0100436", "name": "Cataract 2, multiple types", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CTRCT2", "cataract 2, multiple types, with or without microcornea", "cataract, Coppock-like"], "xref": ["DOID:0110235", "MEDGEN:1648415", "OMIM:604307", "UMLS:C4721890"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by a variant in the X-linked gene, RPGR.", "id": "MONDO:0100437", "name": "Rpgr-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RPGR retinopathy", "RPGR-related retinopathy with or without sino-oto-pulmonary symptoms"], "xref": ["GARD:0026213"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the AIPL1 gene.", "id": "MONDO:0100438", "name": "Aipl1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AIPL1 retinopathy"], "xref": ["GARD:0026214"]}
{"category": ["biolink:Disease"], "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.", "id": "MONDO:0100439", "name": "Glycogen storage disease ixa2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GSD IXa2", "GSD9A2", "liver glycogenosis, X-linked, type 2"], "xref": ["GARD:0026215", "MEDGEN:411335", "UMLS:C2748941"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.", "id": "MONDO:0100441", "name": "Gucy2d-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["dominant GUCY2D retinopathy"], "xref": ["GARD:0026216"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by variants in the X-linked gene, RP2.", "id": "MONDO:0100442", "name": "Rp2-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP2 retinopathy"], "xref": ["GARD:0026217"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.", "id": "MONDO:0100443", "name": "Rdh5-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["RDH5 retinopathy"], "xref": ["GARD:0026218"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.", "id": "MONDO:0100444", "name": "Rlbp1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RLBP1 retinopathy"], "xref": ["DOID:0061127", "GARD:0026219"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the LCA5 gene.", "id": "MONDO:0100445", "name": "Lca5-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LCA5 retinopathy", "LCA5-related retinopathy"], "xref": ["GARD:0026220"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the CNGB3 gene.", "id": "MONDO:0100446", "name": "Cngb3-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNGB3 retinopathy"], "xref": ["GARD:0026221"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the AFT6 gene.", "id": "MONDO:0100447", "name": "Atf6-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATF6 retinopathy", "ATF6-related retinopathy"], "xref": ["GARD:0026222"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the RAB28 gene.", "id": "MONDO:0100448", "name": "Rab28-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RAB28 retinopathy"], "xref": ["GARD:0026223"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.", "id": "MONDO:0100449", "name": "Flvcr1-related retinopathy with or without ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["FLVCR1 retinopathy with or without ataxia"], "xref": ["GARD:0026224"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.", "id": "MONDO:0100450", "name": "Capn5-related vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ADNIV", "CAPN5 vitreoretinopathy", "VRNI", "autosomal dominant neovascular inflammatory vitreoretinopathy", "retinitis proliferans", "vitreoretinopathy, neovascular inflammatory", "vitreoretinopathy, neovascular inflammatory, autosomal dominant"], "xref": ["DOID:9719", "GARD:0017497", "ICD9:362.29", "MEDGEN:1648542", "MedDRA:10057896", "OMIM:193235", "Orphanet:329211", "SCTID:770791000", "UMLS:C4721549"]}
{"category": ["biolink:Disease"], "description": "A ciliopathy caused by biallelic variants in the CEP290 gene.", "id": "MONDO:0100451", "name": "Cep290-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CEP290 ciliopathy"], "xref": ["GARD:0026225"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.", "id": "MONDO:0100452", "name": "Rpe65-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP87", "dominant RPE65 retinopathy"], "xref": ["DOID:0112144", "GARD:0026226"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by biallelic variants in the GUCY2D gene.", "id": "MONDO:0100453", "name": "Gucy2d-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["recessive GUCY2D retinopathy"], "xref": ["GARD:0026227"]}
{"category": ["biolink:Disease"], "description": "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.", "id": "MONDO:0100454", "name": "Gucy2d retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["retinopathy caused by mutation in GUCY2D"], "xref": ["GARD:0026228"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.", "id": "MONDO:0100455", "name": "Neonatal-onset developmental and epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026229"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.", "id": "MONDO:0100456", "name": "Neonatal encephalopathy with non-epileptic myoclonus", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027065"]}
{"category": ["biolink:Disease"], "description": "An instance of achalsia that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100457", "name": "Achalasia, familial esophageal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["achalasia, familial esophageal"], "xref": ["GARD:0000455", "MEDGEN:395436", "MESH:C536011", "OMIM:200400", "UMLS:C1860213"]}
{"category": ["biolink:Disease"], "description": "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.", "id": "MONDO:0100458", "name": "Mecom-associated syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "id": "MONDO:0100459", "name": "Azoospermia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:14227", "ICD10CM:N46.0", "ICD9:606.0", "MEDGEN:2150", "MESH:D053713", "SCTID:425558002", "UMLS:C0004509", "icd11.foundation:532688254"]}
{"category": ["biolink:Disease"], "description": "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.", "id": "MONDO:0100462", "name": "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["OD", "SSOAOD", "osteochondritis dissecans and short stature", "osteochondritis dissecans, short stature, and early-onset osteoarthritis"], "xref": ["GARD:0004133", "MEDGEN:777109", "OMIM:165800", "Orphanet:251262", "UMLS:C3665488"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.", "id": "MONDO:0100463", "name": "Methylmalonic aciduria and/or homocystinuria, cbld type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026230"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.", "id": "MONDO:0100464", "name": "Acid sphingomyelinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026231", "MEDGEN:1800807", "UMLS:C5243927"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.", "id": "MONDO:0100465", "name": "Complex neurodevelopmental disorder with or without congenital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027066"]}
{"category": ["biolink:Disease"], "description": "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.", "id": "MONDO:0100466", "name": "Butterfly-shaped pigment dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["butterfly-shaped pattern dystrophy", "butterfly-shaped pigment dystrophy", "butterfly-shaped pigmentary macular dystrophy"], "xref": ["GARD:0016890", "MEDGEN:1381271", "Orphanet:99001", "SCTID:725590001", "UMLS:C4511237", "icd11.foundation:1639469808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100467", "name": "Preeclampsia/eclampsia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["PEE1", "PREECLAMPSIA/eclampsia 1", "PREG1"], "xref": ["GARD:0018389", "MEDGEN:1807479", "OMIM:189800", "UMLS:C5574918"]}
{"category": ["biolink:Disease"], "description": "A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.", "id": "MONDO:0100468", "name": "Batten-turner congenital myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081335", "GARD:0026232", "MEDGEN:10158", "OMIM:255300", "UMLS:C0027127"]}
{"category": ["biolink:Disease"], "description": "X-linked form of anosmia, isolated congenital.", "id": "MONDO:0100469", "name": "Anosmia, isolated congenital, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794322", "OMIM:301700", "UMLS:C5562112"]}
{"category": ["biolink:Disease"], "description": "Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.", "id": "MONDO:0100470", "name": "Reactive airway disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperactive airway disease", "reactive airway disease (AQ)"], "xref": ["MEDGEN:811342", "NCIT:C113673", "SCTID:991000119106", "UMLS:C3714497"]}
{"category": ["biolink:Disease"], "description": "Abnormally low level of 25-hydroxyvitamin D in the blood.", "id": "MONDO:0100471", "name": "Vitamin d deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DEFIC VITAMIN D", "VITAMIN D DEFIC", "avitaminosis D", "avitaminosis D, NOS", "deficiencies, vitamin D", "deficiency of vitamin D (disorder)", "deficiency, vitamin D", "vitamin D deficiencies", "vitamin D deficiency (disorder)", "vitamin D deficiency, NOS", "vitamin D insufficiency"], "xref": ["DOID:10574", "HP:0100512", "ICD10CM:E55", "ICD10WHO:E55", "ICD9:268", "MEDGEN:12114", "MESH:D014808", "NCIT:C114830", "SCTID:34713006", "UMLS:C0042870", "icd11.foundation:2080031371"]}
{"category": ["biolink:Disease"], "description": "A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).", "id": "MONDO:0100472", "name": "Lissencephaly spectrum disorder with complex brainstem malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026233"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.", "id": "MONDO:0100473", "name": "Disorder of peptide and amine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026234"]}
{"category": ["biolink:Disease"], "description": "An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.", "id": "MONDO:0100474", "name": "Mild ichthyosis vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026235"]}
{"category": ["biolink:Disease"], "description": "An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.", "id": "MONDO:0100475", "name": "Severe ichthyosis vulgaris", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026236"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.", "id": "MONDO:0100477", "name": "Disorder of methylamine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026237"]}
{"category": ["biolink:Disease"], "description": "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.", "id": "MONDO:0100478", "name": "Brain malformations with or without urinary tract defects", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027998", "MEDGEN:1392440", "OMIM:613735", "UMLS:C4478940"]}
{"category": ["biolink:Disease"], "description": "A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.", "id": "MONDO:0100479", "name": "Rifampicin-resistant tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RR-TB", "rifampicin-resistant TB"], "xref": ["GARD:0026238", "MEDGEN:735456", "UMLS:C1532782"]}
{"category": ["biolink:Disease"], "description": "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.", "id": "MONDO:0100480", "name": "Autoimmune primary adrenal insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Addison disease", "Addison's disease", "autoimmune Addison disease", "autoimmune Addison's disease", "autoimmune adrenalitis", "classic Addison's disease", "primary Addison's disease"], "xref": ["GARD:0005740", "MEDGEN:543526", "NCIT:C113814", "Orphanet:85138", "UMLS:C0271737", "icd11.foundation:1920929898"]}
{"category": ["biolink:Disease"], "description": "Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.", "id": "MONDO:0100481", "name": "Active tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["active TB"], "xref": ["GARD:0026239", "MEDGEN:508753", "UMLS:C0151332"]}
{"category": ["biolink:Disease"], "description": "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.", "id": "MONDO:0100482", "name": "Extensively drug-resistant tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["XDR-TB"], "xref": ["GARD:0026240", "MEDGEN:321809", "MESH:D054908", "NCIT:C128417", "UMLS:C1827301"]}
{"category": ["biolink:Disease"], "description": "A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).", "id": "MONDO:0100483", "name": "Totally drug-resistant tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TDR-TB"], "xref": ["GARD:0026241"]}
{"category": ["biolink:Disease"], "description": "A vitreoretinopathy caused by variants in the TSPAN12 gene.", "id": "MONDO:0100484", "name": "Tspan12-related vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026242"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.", "id": "MONDO:0100485", "name": "Kcnh1 associated disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["KCNH1 related disorder"], "xref": ["GARD:0027274"]}
{"category": ["biolink:Disease"], "description": "Acne that occurs in an adult.", "id": "MONDO:0100486", "name": "Adult acne", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["acne, adult"], "xref": ["MEDGEN:348960", "MESH:C565791", "OMIM:604324", "UMLS:C1858506"]}
{"category": ["biolink:Disease"], "description": "A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.", "id": "MONDO:0100487", "name": "Tpm4-related platelet disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["TPM4-related platelet dysfunction with or without thrombocytopenia"], "xref": ["GARD:0026243"]}
{"category": ["biolink:Disease"], "description": "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.", "id": "MONDO:0100488", "name": "Cdh1-related diffuse gastric and lobular breast cancer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DGLBC", "HDGC", "LBC", "diffuse gastric and lobular breast cancer syndrome", "gastric cancer, familial diffuse breast cancer, lobular", "gastric cancer, hereditary diffuse"], "xref": ["GARD:0026244", "OMIM:137215"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100490", "name": "Breasts and/or nipples, aplasia or hypoplasia of, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BNAH1", "breasts and/or nipples, aplasia or hypoplasia of, 1"], "xref": ["GARD:0015045", "OMIM:113700"]}
{"category": ["biolink:Disease"], "description": "A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.", "id": "MONDO:0100491", "name": "Generalized pustular psoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026245", "ICD10CM:L40.1", "MEDGEN:473074", "Orphanet:247353", "SCTID:238612002", "UMLS:C0343055"]}
{"category": ["biolink:Disease"], "description": "A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.", "id": "MONDO:0100492", "name": "Bonnevie-ullrich syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Bonnevie-Ullrich syndrome"], "xref": ["MEDGEN:315907", "NCIT:C34434", "UMLS:C1527168"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of TTN-related myopathy.", "id": "MONDO:0100493", "name": "Autosomal recessive titinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["TTN-related myopathy, autosomal recessive"], "xref": ["GARD:0026246"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of TTN-related myopathy.", "id": "MONDO:0100494", "name": "Autosomal dominant titinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TTN-related myopathy, autosomal dominant"], "xref": ["GARD:0026247"]}
{"category": ["biolink:Disease"], "description": "A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.", "id": "MONDO:0100495", "name": "Autosomal recessive distal titinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026248"]}
{"category": ["biolink:Disease"], "description": "A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.", "id": "MONDO:0100496", "name": "Emery-dreifuss-like muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026249"]}
{"category": ["biolink:Disease"], "description": "A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.", "id": "MONDO:0100497", "name": "Titinopathy with congenital contractures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026250"]}
{"category": ["biolink:Disease"], "description": "Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity 20% cause childhood onset of photosensitivity and sometimes liver damage.", "id": "MONDO:0100498", "name": "Urod-related inherited porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["UROD-related porphyria"], "xref": ["GARD:0026251"]}
{"category": ["biolink:Disease"], "description": "Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including \"coat-hanger ribs\", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).", "id": "MONDO:0100499", "name": "Multiple congenital anomalies due to 14q32.2 imprinting defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026252"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.", "id": "MONDO:0100500", "name": "Mendelian neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.", "id": "MONDO:0100501", "name": "Body-stalk anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BSA", "body stalk anomaly", "body stalk complex"], "xref": ["GARD:0026253"]}
{"category": ["biolink:Disease"], "description": "Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.", "id": "MONDO:0100502", "name": "Nthl1-deficiency tumor predisposition syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026254"]}
{"category": ["biolink:Disease"], "description": "A fungal infectious disease that involves the toenail.", "id": "MONDO:0100504", "name": "Fungal infection of the toenail", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Dermatitis caused by an allergic reaction to ingested food.", "id": "MONDO:0100505", "name": "Food dermatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["dermatitis due to food taken internally"], "xref": ["NCIT:C34534"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.", "id": "MONDO:0100506", "name": "Cockayne spectrum with or without cerebrooculofacioskeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026255"]}
{"category": ["biolink:Disease"], "description": "Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).", "id": "MONDO:0100507", "name": "Multiple congenital anomalies due to 14q32.2 paternally expressed gene defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026256"]}
{"category": ["biolink:Disease"], "description": "A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.", "id": "MONDO:0100508", "name": "Salivary gland type cancer of the breast", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["salivary gland type carcinoma of the breast"], "xref": ["GARD:0012774", "MEDGEN:903115", "Orphanet:213557", "SCTID:716593008", "UMLS:C4274421", "icd11.foundation:2145246967"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.", "id": "MONDO:0100509", "name": "Ift140-related recessive ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["IFT140-related recessive ciliopathy"], "xref": ["GARD:0026257"]}
{"category": ["biolink:Disease"], "description": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.", "id": "MONDO:0100510", "name": "Spondyloepimetaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["SEMD", "spondylo-epi-(meta)-physeal dysplasia"], "xref": ["DOID:0080027", "GARD:0026258", "MEDGEN:609408", "SCTID:254062008", "UMLS:C0432211"]}
{"category": ["biolink:Disease"], "description": "The sudden loss of all heart activity due to an irregular heart rhythm.", "id": "MONDO:0100511", "name": "Sudden cardiac arrest", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:354518", "MESH:C1720824", "UMLS:C1720824", "icd11.foundation:264292672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100512", "name": "Mitochondrial dna depletion syndrome, hepatocerebral form", "provided_by": ["infores:medic"], "subsets": ["mondo:disease_grouping", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["deoxyguanosine kinase deficiency", "mtDNA depletion syndrome, hepatocerebral form"], "xref": ["GARD:0020769", "MEDGEN:777993", "MESH:C580039", "Orphanet:254871", "UMLS:C3711385", "icd11.foundation:1285620325"]}
{"category": ["biolink:Disease"], "description": "Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.", "id": "MONDO:0100513", "name": "Traf3 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.", "id": "MONDO:0100514", "name": "Familial ovarian carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["familial ovarian carcinoma", "hereditary ovarian carcinoma"], "xref": ["DOID:6901", "GARD:0026259", "MEDGEN:272713", "NCIT:C36102", "UMLS:C1333992"]}
{"category": ["biolink:Disease"], "description": "A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).", "id": "MONDO:0100515", "name": "Mirror movements 1 and/or agenesis of the corpus callosum", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026260"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.", "id": "MONDO:0100516", "name": "Complex neurodevelopmental disorder with motor features", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0027067"]}
{"category": ["biolink:Disease"], "description": "A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.", "id": "MONDO:0100517", "name": "Psap-related sphingolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026261"]}
{"category": ["biolink:Disease"], "description": "An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100518", "name": "Hereditary attention deficit-hyperactivity disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "xref": ["OMIM:143465"]}
{"category": ["biolink:Disease"], "description": "The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.", "id": "MONDO:0100520", "name": "Nkx2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027999"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.", "id": "MONDO:0100521", "name": "Nog-related symphalangism spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NOG-SSD"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100522", "name": "Hypotrichosis 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HYPT4", "MUHH1", "Marie Unna hereditary hypotrichosis 1", "hypotrichosis 4", "hypotrichosis type 4", "hypotrichosis, Marie Unna type, 1"], "xref": ["DOID:0110701", "GARD:0015078", "MEDGEN:413053", "MESH:C567718", "OMIM:146550", "UMLS:C2750815"]}
{"category": ["biolink:Disease"], "description": "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,", "id": "MONDO:0100523", "name": "Spast-related motor disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.", "id": "MONDO:0100524", "name": "Asah1-related sphingolipidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ASAH1-related disorders", "ASAH1-related sphingolipidosis"], "xref": ["GARD:0026262"]}
{"category": ["biolink:Disease"], "description": "A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.", "id": "MONDO:0100525", "name": "Tcf7l2-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.", "id": "MONDO:0100527", "name": "Kozlowski-Tsuruta syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["Kozlowski-Tsuruta syndrome"], "xref": ["GARD:0002022", "MEDGEN:1830504", "Orphanet:2204", "UMLS:C5780027"]}
{"category": ["biolink:Disease"], "description": "A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.", "id": "MONDO:0100528", "name": "Hao-fountain syndrome due to 16p13.2 microdeletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["16p13.2 microdeletion syndrome", "Del(16)(p13.2)", "chromosome 16P13.2 deletion syndrome", "chromosome 16p13.2 deletion syndrome", "monosomy 16p13.2"], "xref": ["GARD:0017920", "MEDGEN:1804697", "Orphanet:500055", "UMLS:C5680086"]}
{"category": ["biolink:Disease"], "description": "A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.", "id": "MONDO:0100529", "name": "Sunflower syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EEM with prominent photic induction"], "xref": ["GARD:0026263"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the CRPPA gene.", "id": "MONDO:0100530", "name": "Myopathy caused by variation in crppa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100531", "name": "Emery-dreifuss muscular dystrophy 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["EDMD1", "EMD1", "Emery-Dreifuss muscular dystrophy 1, X-linked"], "xref": ["DOID:0070246", "GARD:0026265", "MEDGEN:1720295", "NCIT:C168730", "OMIM:310300", "UMLS:C5243475"]}
{"category": ["biolink:Disease"], "description": "An inherited disease susceptibility or predisposition to developing intracerebral hemorrhage.", "id": "MONDO:0100533", "name": "Hemorrhage, intracerebral, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["ICH"], "xref": ["MEDGEN:482735", "OMIM:614519", "UMLS:C3281105"]}
{"category": ["biolink:Disease"], "description": "A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.", "id": "MONDO:0100534", "name": "Smarcb1-deficient kidney medullary carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026266", "MEDGEN:1817235", "NCIT:C189247", "UMLS:C5708330"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100535", "name": "Hypodontia/oligodontia with orofacial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026267", "MEDGEN:369662", "UMLS:C1970118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100536", "name": "Tooth agenesis, selective, with orofacial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026268", "MEDGEN:409991", "UMLS:C1970117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100537", "name": "Plasminogen deficiency, type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["plasminogen deficiency, type 2"], "xref": ["GARD:0026269", "MEDGEN:904685", "UMLS:C4225445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100538", "name": "Dysplasminogenemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026270"]}
{"category": ["biolink:Disease"], "description": "A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.", "id": "MONDO:0100539", "name": "Hemiplegic migraine-developmental and epileptic encephalopathy spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026271"]}
{"category": ["biolink:Disease"], "description": "A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.", "id": "MONDO:0100540", "name": "Gata6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"]}
{"category": ["biolink:Disease"], "description": "A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.", "id": "MONDO:0100541", "name": "Gata5-related congenital heart defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GATA5 related congenital heart defects"]}
{"category": ["biolink:Disease"], "description": "A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.", "id": "MONDO:0100542", "name": "Clonal hematopoiesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026272", "MEDGEN:1694554", "NCIT:C162188", "UMLS:C5206406"]}
{"category": ["biolink:Disease"], "description": "A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.", "id": "MONDO:0100543", "name": "Clonal hematopoiesis of indeterminate potential", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026273", "MEDGEN:1681237", "UMLS:C4761612"]}
{"category": ["biolink:Disease"], "description": "A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.", "id": "MONDO:0100544", "name": "Age-related clonal hematopoiesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARCH"], "xref": ["GARD:0026274", "MEDGEN:1670618", "UMLS:C4722404"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.", "id": "MONDO:0100545", "name": "Hereditary neurological disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurogenetic disease"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.", "id": "MONDO:0100546", "name": "Hereditary neuromuscular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026275"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.", "id": "MONDO:0100547", "name": "Cardiogenetic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hereditary heart disease"]}
{"category": ["biolink:Disease"], "description": "Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.", "id": "MONDO:0100548", "name": "Serac1-related neurological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.", "id": "MONDO:0100549", "name": "Focal nodular hyperplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FNH", "focal nodular hyperplasia of the liver", "hepatic focal nodular hyperplasia"]}
{"category": ["biolink:Disease"], "description": "A rare form of myositis that affects only the orbital muscles.", "id": "MONDO:0100550", "name": "Orbital myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "synonym": ["ocular myositis"], "xref": ["GARD:0026276", "ICD10CM:H05.12", "ICD9:376.12", "MEDGEN:389999", "NCIT:C117296", "SCTID:80698001", "UMLS:C2350476"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.", "id": "MONDO:0100551", "name": "Afg2b-related complex neurodevelopmental disorder with motor features and hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss", "SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss"], "xref": ["GARD:0027068"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (50 years or 50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.", "id": "MONDO:0100552", "name": "Attrv30m amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ATTRV30M-related amyloidosis", "hereditary ATTRV30M-related amyloidosis"], "xref": ["GARD:0016754", "MEDGEN:78669", "Orphanet:85447", "UMLS:C0268384", "icd11.foundation:1736273667"]}
{"category": ["biolink:Disease"], "description": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.", "id": "MONDO:0100553", "name": "Optn-related open angle glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OPTN-related open angle glaucoma", "glaucoma 1, open angle, E"], "xref": ["GARD:0026277", "MEDGEN:87389", "OMIM:137760", "UMLS:C0339573"]}
{"category": ["biolink:Disease"], "description": "An instance of narcolepsy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100554", "name": "Hereditary narcolepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026278", "OMIMPS:161400"]}
{"category": ["biolink:Disease"], "description": "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.", "id": "MONDO:0100556", "name": "Prrt2-associated paroxysmal movement disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028000"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.", "id": "MONDO:0100557", "name": "Rbfox2-related congenital heart disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.", "id": "MONDO:0100558", "name": "Rnu4atac spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RNU4ATAC-related disorder", "RNU4atac-opathy"], "xref": ["GARD:0027275"]}
{"category": ["biolink:Disease"], "description": "Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.", "id": "MONDO:0100559", "name": "Alg14-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ALG14-CDG"], "xref": ["GARD:0026279"]}
{"category": ["biolink:Disease"], "description": "A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.", "id": "MONDO:0100560", "name": "Ligneous conjunctivitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0006187", "ICD10CM:H10.51", "MEDGEN:226895", "UMLS:C1274789", "icd11.foundation:1464324556"]}
{"category": ["biolink:Disease"], "description": "Mild microcytic anemia caused by biallelic variation in the HBA1 gene.", "id": "MONDO:0100561", "name": "Hba1-related alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026280"]}
{"category": ["biolink:Disease"], "description": "Mild microcytic anemia caused by biallelic variation in the HBA2 gene.", "id": "MONDO:0100562", "name": "Hba2-related alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026281"]}
{"category": ["biolink:Disease"], "description": "An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.", "id": "MONDO:0100563", "name": "Digenic alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026282"]}
{"category": ["biolink:Disease"], "description": "Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).", "id": "MONDO:0100564", "name": "Hba1; hba2-related digenic alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026283"]}
{"category": ["biolink:Disease"], "description": "An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.", "id": "MONDO:0100565", "name": "Monogenic alpha thalassemia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026284"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen.", "id": "MONDO:0100566", "name": "Myoclonic epilepsy in infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MEI", "benign myoclonic epilepsy of infancy", "benign myoclonus epilepsy of infancy"], "xref": ["GARD:0019086", "MEDGEN:148242", "Orphanet:86909", "UMLS:C0751120"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.", "id": "MONDO:0100567", "name": "Hereditary angioedema with normal c1inh", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HAE with normal C1 inhibitor", "HAE with normal C1Inh", "hereditary angioedema with normal C1 inhibitor", "hereditary angioneurotic edema with normal C1 inhibitor", "hereditary angioneurotic edema with normal C1Inh"], "xref": ["GARD:0022195", "MEDGEN:743231", "Orphanet:528647", "UMLS:C1960459"]}
{"category": ["biolink:Disease"], "description": "A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.", "id": "MONDO:0100569", "name": "Acd-related short telomere syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026285"]}
{"category": ["biolink:Disease"], "description": "A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.", "id": "MONDO:0100570", "name": "Acd-related long telomere syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026286"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.", "id": "MONDO:0100571", "name": "Ctnnb1-related neurodevelopmental disorder and/or vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any overgrowth syndrome in which the cause of the disease is a pathogenic gain-of-function variants in the MTOR gene. The variants can be germline or somatic.", "id": "MONDO:0100572", "name": "Mtor-related overgrowth spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027069"]}
{"category": ["biolink:Disease"], "description": "Any epilepsy where patients have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox-Gastaut syndrome may have combined focal and generalized epilepsy.", "id": "MONDO:0100573", "name": "Combined generalized and focal epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1836943", "UMLS:C5816884"]}
{"category": ["biolink:Disease"], "description": "Epilepsy that is characterized by generalized seizure types and may have typical interictal and/or ictal EEG findings that accompany generalized seizure types (for example generalized spike-wave).", "id": "MONDO:0100574", "name": "Generalized epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:4507", "NCIT:C3021", "UMLS:C0014548"]}
{"category": ["biolink:Disease"], "description": "A generalized epilepsy that is understood to have a genetic etiology. This does not always mean that the epilepsy is inherited or can be transmitted to offspring, as the genetic etiology may be a de novo pathogenic variant, or the genetic etiology may have complex/polygenic inheritance.", "id": "MONDO:0100575", "name": "Genetic generalized epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1836944", "UMLS:C5816885"]}
{"category": ["biolink:Disease"], "description": "An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0100576", "name": "Hereditary generalized epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A group of epilepsy syndromes in which myoclonic seizures are a prominent feature.", "id": "MONDO:0100577", "name": "Myoclonic epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["myoclonic epilepsy syndrome"], "xref": ["GARD:0027276", "MEDGEN:4988", "UMLS:C0014550"]}
{"category": ["biolink:Disease"], "description": "FANCM Fanconi-like genomic instability disorder is autosomal recessive condition associated with an increased risk of cancer, infertility, and hypersensitivity to cytotoxic agents.", "id": "MONDO:0100578", "name": "Fancm fanconi-like genomic instability disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene.", "id": "MONDO:0100579", "name": "Grhl3-related orofacial clefting", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An epilepsy in which the type of seizure onset is unknown or unclear, making it uncertain whether it is a generalized or focal epilepsy. Seizures of unknown onset may still have features that can be classified.", "id": "MONDO:0100580", "name": "Epilepsy, unknown whether focal or generalized", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["epilepsy, focal or generalized unknown", "epilepsy, onset unknown", "epilepsy, unclassified"]}
{"category": ["biolink:Disease"], "description": "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions.", "id": "MONDO:0100581", "name": "Ocular growth disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.", "id": "MONDO:0100582", "name": "Tor1aip1-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027277"]}
{"category": ["biolink:Disease"], "description": "A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.", "id": "MONDO:0100583", "name": "Jeune syndrome - grk2-related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GRK2-related Jeune syndrome", "asphyxiating thoracic dystrophy - GRK2-related", "short rib polydactyly - GRK2 related", "short rib thoracic dystrophy - GRK2 related"], "xref": ["GARD:0027278"]}
{"category": ["biolink:Disease"], "description": "A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.", "id": "MONDO:0100584", "name": "Snupn-related muscular dystrophy with or without multi-system involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027279"]}
{"category": ["biolink:Disease"], "description": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.", "id": "MONDO:0100586", "name": "B3galt6-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["B3GALT6-CDG", "B3GALT6-congenital disorder of glycosylation", "B3GALT6-related congenital disorder of glycosylation"], "xref": ["GARD:0027280"]}
{"category": ["biolink:Disease"], "description": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in A4GALT.", "id": "MONDO:0100587", "name": "A4galt-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["A4GALT-CDG", "A4GALT-congenital disorder of glycosylation", "A4GALT-related congenital disorder of glycosylation"], "xref": ["GARD:0027281"]}
{"category": ["biolink:Disease"], "description": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in FAM20B.", "id": "MONDO:0100588", "name": "Fam20b-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FAM20B-CDG", "FAM20B-congenital disorder of glycosylation"], "xref": ["GARD:0027282"]}
{"category": ["biolink:Disease"], "description": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in ALG10.", "id": "MONDO:0100589", "name": "Alg10-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ALG10-CDG", "ALG10-congenital disorder of glycosylation"], "xref": ["GARD:0027283"]}
{"category": ["biolink:Disease"], "description": "TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis.", "id": "MONDO:0100591", "name": "Tor1aip1-related multisystem disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia.", "id": "MONDO:0100592", "name": "Slc26a2-related skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia.", "id": "MONDO:0100593", "name": "Comp-related skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A skin condition that is characterized by recurring furuncles, lesions primarily caused by Staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population.", "id": "MONDO:0100595", "name": "Furunculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:42118", "UMLS:C0016867"]}
{"category": ["biolink:Disease"], "description": "Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene.", "id": "MONDO:0100596", "name": "Col1a2-related osteogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027284"]}
{"category": ["biolink:Disease"], "description": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses, caused by an autosomal recessive genetic disorder.", "id": "MONDO:0100597", "name": "Intellectual disability, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Autosomal recessive form of syndromic intellectual disability.", "id": "MONDO:0100598", "name": "Autosomal recessive syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.", "id": "MONDO:0100599", "name": "Col1a1-related ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0100600", "name": "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["ataxia-delayed dentition-hypomyelination syndrome"], "xref": ["GARD:0027286", "MEDGEN:1639554", "Orphanet:137639", "UMLS:C4706676"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of syndromic intellectual disability.", "id": "MONDO:0100601", "name": "Autosomal dominant syndromic intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.", "id": "MONDO:0100602", "name": "Col2a1-related spondyloepiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027287"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene.", "id": "MONDO:0100603", "name": "Fat4-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function.", "id": "MONDO:0100604", "name": "Tor1aip1-related nuclear envelopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.", "id": "MONDO:0100605", "name": "Polr-related leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["4H leukodystrophy"], "xref": ["GARD:0027288", "MEDGEN:1803536", "Orphanet:289494", "UMLS:C5679947"]}
{"category": ["biolink:Disease"], "description": "Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene.", "id": "MONDO:0100606", "name": "Col1a2-related ehlers-danlos syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027289"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP54 gene.", "id": "MONDO:0100607", "name": "Ciliary dyskinesia, primary, 54", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFAP54-related primary ciliary dyskinesia"], "xref": ["GARD:0027290", "MEDGEN:1876504", "OMIM:621125", "UMLS:C6012704"]}
{"category": ["biolink:Disease"], "description": "Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene.", "id": "MONDO:0100608", "name": "Alpl-related autosomal dominant hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027291"]}
{"category": ["biolink:Disease"], "description": "Any hypophosphatasia in which the cause of the disease is an autosomal recessive loss-of-function in the ALPL gene.", "id": "MONDO:0100609", "name": "Alpl-related autosomal recessive hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027292"]}
{"category": ["biolink:Disease"], "description": "The mildest form of autism spectrum disorder, characterized by difficulties with social communication and restricted, repetitive behaviors, requiring minimal support for daily functioning.", "id": "MONDO:0100610", "name": "Autism spectrum disorder 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Asperger syndrome", "autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language"], "xref": ["DOID:0050432", "GARD:0028001", "MESH:D020817", "NCIT:C97159", "Orphanet:1162", "SCTID:23560001", "icd11.foundation:366940030"]}
{"category": ["biolink:Disease"], "description": "A moderate form of autism spectrum disorder marked by more significant challenges in social communication and more noticeable restricted, repetitive behaviors, requiring substantial support for daily functioning.", "id": "MONDO:0100611", "name": "Autism spectrum disorder 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028002"]}
{"category": ["biolink:Disease"], "description": "The most severe form of autism spectrum disorder, characterized by severe impairments in social communication and extreme restricted, repetitive behaviors, requiring very substantial support for daily functioning.", "id": "MONDO:0100612", "name": "Autism spectrum disorder 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028003"]}
{"category": ["biolink:Disease"], "description": "Any ocular growth disorder in which the cause of the disease is a mutation in the BMP4 gene.", "id": "MONDO:0100613", "name": "Bmp4-related ocular growth disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions.", "id": "MONDO:0100614", "name": "Syndromic congenital heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features.", "id": "MONDO:0100615", "name": "Intestinal failure–associated liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any neurological disorder in which the cause of the disease is a mutation in the VPS11 gene.", "id": "MONDO:0100617", "name": "Vps11-related neurological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome that has an onset during variable ages and stages of life.", "id": "MONDO:0100619", "name": "Variable age epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027372", "Orphanet:699645"]}
{"category": ["biolink:Disease"], "description": "An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both.", "id": "MONDO:0100620", "name": "Developmental and epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE", "developmental and epileptic encephalopathy"], "xref": ["GARD:0027373", "MEDGEN:1830477", "UMLS:C5779964"]}
{"category": ["biolink:Disease"], "description": "An instance of developmental and epileptic encephalopathy that is acquired during the lifetime of the individual.", "id": "MONDO:0100621", "name": "Acquired developmental and epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired DEE"], "xref": ["GARD:0027374"]}
{"category": ["biolink:Disease"], "description": "A neuro-urological condition characterized by aseptic meningitis, typically without any clear causative agent, associated with acute urinary retention. The typical symptoms and neurological signs of aseptic meningitis are usually mild or absent, so the predominant symptom often turns out to be isolated acute urinary retention. Although several cases are reported in the literature, MRS actual prevalence is underestimated. These factors make an early diagnosis of MRS difficult.", "id": "MONDO:0100623", "name": "Meningitis-retention syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRS"]}
{"category": ["biolink:Disease"], "description": "Any neurodegenerative disorder in which the cause of the disease is a mutation in the DCTN1 gene.", "id": "MONDO:0100624", "name": "Dctn1-related neurodegeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027375"]}
{"category": ["biolink:Disease"], "description": "Dementia beginning in childhood or adolescence. This term denotes a group of conditions that cause early-onset progressive neurocognitive decline.", "id": "MONDO:0100625", "name": "Childhood-onset dementia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["childhood dementia", "pediatric dementia"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a \"unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies.", "id": "MONDO:0100626", "name": "Sox11-related complex neurodevelopmental disorder with or without congenital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028004"]}
{"category": ["biolink:Disease"], "description": "A condition identified in infants with hypertrypsinogenemia on newborn screening who have an inconclusive diagnosis, defined as having a sweat chloride value less than 60 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences, and who thus do not meet diagnostic criteria for cystic fibrosis (CF). CRMS is the designation used in the United States; CFSPID (CF screen positive, inconclusive diagnosis) is the international equivalent. A proportion of these infants may later develop CFTR-related symptoms.", "id": "MONDO:0100627", "name": "Cftr-related metabolic syndrome/cf screen positive, inconclusive diagnosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CF screen positive, inconclusive diagnosis", "CFSPID", "CFTR-related metabolic syndrome", "CRMS", "CRMS/CFSPID"], "xref": ["GARD:0027376"]}
{"category": ["biolink:Disease"], "description": "A susceptibility or predisposition to MIRAGE syndrome and monosomy 7 myelodysplasia and leukemia syndrome 2, in which the cause of the disease is a mutation in the SAMD9 gene.", "id": "MONDO:0100628", "name": "Samd9-related spectrum and myeloid neoplasm risk", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["MIRAGE syndrome susceptibility, SAMD9 form", "SAMD9-related spectrum and myeloid neoplasm risk"], "xref": ["GARD:0028005"]}
{"category": ["biolink:Disease"], "description": "Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene.", "id": "MONDO:0100629", "name": "Kif5a-related neurological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An instance of sleep-related hypermotor epilepsy that is acquired during the lifetime of the individual. The seizures are triggered by an identifiable structural abnormality in the brain—typically detected by MRI—such as cortical dysplasia, tumors (e.g., low-grade gliomas), scars from prior injury or infection, vascular malformations (e.g., cavernomas), or post-traumatic changes.", "id": "MONDO:0100630", "name": "Acquired sleep-related hypermotor epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["acquired SHE"], "xref": ["GARD:0028006"]}
{"category": ["biolink:Disease"], "description": "A focal epilepsy syndrome with characteristic brief motor seizures occurring from sleep. This syndrome was previously known as nocturnal frontal lobe epilepsy, and (when familial) autosomal dominant nocturnal frontal lobe epilepsy. It has both genetic and structural causes. Patients may have hyperkinetic seizures, or seizures with asymmetric dystonic/tonic motor features. The term sleep-related hyperkinetic epilepsy is to be used when patients have hyperkinetic seizures alone.", "id": "MONDO:0100631", "name": "Sleep-related hypermotor epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SHE", "nocturnal frontal lobe epilepsy"], "xref": ["GARD:0028007"]}
{"category": ["biolink:Disease"], "description": "Any disease in which the cause of the disease is a variation in the CSF1R gene.", "id": "MONDO:0100632", "name": "Csf1r-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CSF1R-RD", "colony stimulating factor-1 receptor-related disorder"]}
{"category": ["biolink:Disease"], "description": "Polyneuropathy that is caused by exposure to toxins.", "id": "MONDO:0100633", "name": "Toxic polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.2", "NCIT:C27063", "SCTID:45600000"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy resulting from a traumatic event.", "id": "MONDO:0100634", "name": "Traumatic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["SCTID:57182000"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy caused by exposure to radiation, resulting in damage to one or more peripheral nerves.", "id": "MONDO:0100635", "name": "Radiation-induced neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["ICD10CM:G62.8", "SCTID:445339002"]}
{"category": ["biolink:Disease"], "description": "A drug-induced myopathy caused by exposure to corticosteroids.", "id": "MONDO:0100636", "name": "Corticosteroid myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["SCTID:26715006"]}
{"category": ["biolink:Disease"], "description": "A myopathy caused by exposure to a drug.", "id": "MONDO:0100637", "name": "Drug-induced myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G72.0", "SCTID:240101000"]}
{"category": ["biolink:Disease"], "description": "A metabolic myopathy associated with an endocrine disorder.", "id": "MONDO:0100638", "name": "Endocrine myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["ICD10CM:E34.9", "SCTID:57958006"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of vasculitis, characterized by nerve damage resulting from inflammation of blood vessels.", "id": "MONDO:0100639", "name": "Vasculitic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.8", "SCTID:425659003"]}
{"category": ["biolink:Disease"], "description": "Chronic and idiopathic form of peripheral neuropathy.", "id": "MONDO:0100640", "name": "Chronic idiopathic neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G60.9", "SCTID:230655004"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of exposure to chemotherapy.", "id": "MONDO:0100641", "name": "Chemotherapy-induced neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.0", "SCTID:1411000146100"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy caused by infection.", "id": "MONDO:0100642", "name": "Infectious neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neuropathy due to infection"], "xref": ["ICD10CM:G62.9", "SCTID:230595006"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of a vitamin deficiency.", "id": "MONDO:0100643", "name": "Vitamin deficiency related neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:E56.9", "SCTID:54509008"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of paraproteinemia.", "id": "MONDO:0100644", "name": "Paraproteinemia-associated neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.9"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of cryoglobulinemia.", "id": "MONDO:0100645", "name": "Neuropathy in cryoglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.9", "SCTID:230589005"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy that arises as a consequence of an endocrine disorder.", "id": "MONDO:0100646", "name": "Neuropathy in endocrine disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:E34.9", "SCTID:230571009"]}
{"category": ["biolink:Disease"], "description": "A peripheral neuropathy occurring in the context of sarcoidosis.", "id": "MONDO:0100647", "name": "Sarcoid neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:G62.9", "SCTID:193195000"]}
{"category": ["biolink:Disease"], "description": "An extremely rare adenosarcoma that arises from the uterine ligament.", "id": "MONDO:0200000", "name": "Uterine ligament adenosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["adenosarcoma of uterine ligament", "uterine ligament adenosarcoma"], "xref": ["GARD:0026287", "NCIT:C102570"]}
{"category": ["biolink:Disease"], "description": "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.", "id": "MONDO:0300000", "name": "Ssr3-cdg", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SSR3 congenital disorder of glycosylation", "SSR3 deficiency"], "xref": ["GARD:0026288"]}
{"category": ["biolink:Disease"], "description": "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.", "id": "MONDO:0400000", "name": "Small intestinal bacterial overgrowth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SIBO"], "xref": ["MEDGEN:1708316", "UMLS:C3160854"]}
{"category": ["biolink:Disease"], "description": "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.", "id": "MONDO:0400002", "name": "Calcium-alkali syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["milk-alkali syndrome"], "xref": ["MEDGEN:6403", "UMLS:C0026141"]}
{"category": ["biolink:Disease"], "description": "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.", "id": "MONDO:0400003", "name": "Skeletal fluorosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["fluorosis of the skeleton"], "xref": ["ICD10CM:M85.1", "icd11.foundation:1269698463"]}
{"category": ["biolink:Disease"], "description": "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.", "id": "MONDO:0400004", "name": "Phrynoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026289", "MEDGEN:83101", "UMLS:C0334013", "icd11.foundation:1716182078"]}
{"category": ["biolink:Disease"], "description": "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).", "id": "MONDO:0400005", "name": "Refeeding syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:167819", "MESH:D055677", "UMLS:C0860549"]}
{"category": ["biolink:Disease"], "description": "A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.", "id": "MONDO:0400006", "name": "Botryomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["bacterial pseudomycosis", "pyoderma vegetans"], "xref": ["ICD10CM:L08.81", "MEDGEN:754315", "MPATH:859", "UMLS:C2937266"]}
{"category": ["biolink:Disease"], "description": "A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.", "id": "MONDO:0500000", "name": "Episodic angioedema with eosinophilia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["EAE", "Gleich syndrome", "Gleich's syndrome"], "xref": ["GARD:0013029", "MEDGEN:725561", "UMLS:C1304198", "icd11.foundation:1511563398"]}
{"category": ["biolink:Disease"], "description": "A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.", "id": "MONDO:0500018", "name": "Acute fibrinous and organizing pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AFOP"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.", "id": "MONDO:0550003", "name": "Sec61b-related polycystic liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026290"]}
{"category": ["biolink:Disease"], "description": "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.", "id": "MONDO:0600001", "name": "Glutaminase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["glutaminase deficiency"], "xref": ["GARD:0026291"]}
{"category": ["biolink:Disease"], "description": "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.", "id": "MONDO:0600002", "name": "Hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["haemorrhagic fever"], "xref": ["NCIT:C36169"]}
{"category": ["biolink:Disease"], "description": "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.", "id": "MONDO:0600003", "name": "Bacterial hemorrhagic fever", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["bacterial haemorrhagic fever", "haemorrhagic fever, bacterial"], "xref": ["GARD:0026292"]}
{"category": ["biolink:Disease"], "description": "An allergic disease involving venom.", "id": "MONDO:0600005", "name": "Venom allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IgE-mediated venom hypersensitivity", "venom hypersensitivity"], "xref": ["MEDGEN:1387536", "UMLS:C4510560"]}
{"category": ["biolink:Disease"], "description": "A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.", "id": "MONDO:0600008", "name": "Cytokine release syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CRS", "cytokine storm", "cytokine-associated toxicity"], "xref": ["ICD10CM:D89.83", "MEDGEN:215297", "MESH:D000080424", "NCIT:C78251", "UMLS:C0948245"]}
{"category": ["biolink:Disease"], "description": "A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.", "id": "MONDO:0600009", "name": "Severe hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026293"]}
{"category": ["biolink:Disease"], "description": "A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.", "id": "MONDO:0600010", "name": "Moderate hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026294"]}
{"category": ["biolink:Disease"], "description": "The most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. It is autosomal dominantly inherited.", "id": "MONDO:0600011", "name": "Mild hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["attenuated hypophosphatasia"], "xref": ["GARD:0026295"]}
{"category": ["biolink:Disease"], "description": "A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.", "id": "MONDO:0600014", "name": "Alveolar capillary dysplasia without misalignment of pulmonary veins", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACD without misalignment"], "xref": ["GARD:0026296"]}
{"category": ["biolink:Disease"], "description": "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.", "id": "MONDO:0600016", "name": "Acinar dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AcDys"], "xref": ["GARD:0026297", "MEDGEN:835348", "UMLS:C3872820", "icd11.foundation:1890124170"]}
{"category": ["biolink:Disease"], "description": "Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.", "id": "MONDO:0600017", "name": "Acinar dysplasia caused by mutation in fgf10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FGF10 acinar dysplasia", "FGF10 related acinar dysplasia"], "xref": ["GARD:0026298"]}
{"category": ["biolink:Disease"], "description": "Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.", "id": "MONDO:0600018", "name": "Acinar dysplasia caused by mutation in fgfr2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FGFR2 acinar dysplasia", "FGFR2 related acinar dysplasia"], "xref": ["GARD:0026299"]}
{"category": ["biolink:Disease"], "description": "Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.", "id": "MONDO:0600019", "name": "Acinar dysplasia caused by mutation in tbx4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TBX4 acinar dysplasia", "TBX4 related acinar dysplasia"], "xref": ["GARD:0026300"]}
{"category": ["biolink:Disease"], "description": "Idiopathic form of inflammatory myopathy.", "id": "MONDO:0600023", "name": "Idiopathic inflammatory myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["idiopathic myositis"], "xref": ["GARD:0026301", "MEDGEN:148290", "NCIT:C116796", "SCTID:702380008", "UMLS:C0751356"]}
{"category": ["biolink:Disease"], "description": "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.", "id": "MONDO:0600024", "name": "Familial idiopathic inflammatory myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["familial idiopathic myositis"], "xref": ["GARD:0026302", "MEDGEN:854861", "MESH:C000598744", "OMIM:160750", "UMLS:C3888318"]}
{"category": ["biolink:Disease"], "description": "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.", "id": "MONDO:0600025", "name": "Hydrosalpinx", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["blocked fallopian tube", "fallopian tube obstruction"], "xref": ["MEDGEN:526227", "NCIT:C142886", "UMLS:C0221376", "icd11.foundation:1766606192"]}
{"category": ["biolink:Disease"], "description": "A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.", "id": "MONDO:0600026", "name": "Vanishing lung syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["VLS", "idiopathic giant bullous emphysema"]}
{"category": ["biolink:Disease"], "description": "Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.", "id": "MONDO:0600027", "name": "Congenital right-sided heart lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026303"]}
{"category": ["biolink:Disease"], "description": "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.", "id": "MONDO:0600029", "name": "Restrictive pulmonary disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Restrictive lung disease (disorder)", "restrictive lung disease"], "xref": ["MEDGEN:43209", "NCIT:C91762", "SCTID:36485005", "UMLS:C0085581"]}
{"category": ["biolink:Disease"], "description": "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.", "id": "MONDO:0600030", "name": "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); e2a-pbx1 (tcf3-pbx1)", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:otar", "mondo:rare"], "synonym": ["19)(q23", "B acute lymphoblastic leukaemia with t(1", "B acute lymphoblastic leukemia with t(1", "B lymphoblastic leukaemia lymphoma with t(1", "B lymphoblastic leukemia lymphoma with t(1", "B-acute lymphoblastic leukaemia with t(1", "B-acute lymphoblastic leukemia with t(1", "B-lymphoblastic leukemia/lymphoma with t(1", "E2A-PBX1 (TCF3-PBX1)", "E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)", "p13.3)"], "xref": ["DOID:0080649", "GARD:0022348", "MEDGEN:396324", "NCIT:C80347", "Orphanet:585956", "SCTID:450956008", "UMLS:C2698315"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.", "id": "MONDO:0700000", "name": "Alg9-associated autosomal dominant polycystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["ALG9 autosomal dominant polycystic kidney disease", "ALG9 related autosomal dominant polycystic kidney disease", "ALG9-associated ADPKD", "ALG9-associated autosomal dominant polycystic kidney disease", "Autosomal Dominant Polycystic Kidney Disease - ALG9", "autosomal dominant polycystic kidney disease caused by mutation in ALG9"], "xref": ["GARD:0026304"]}
{"category": ["biolink:Disease"], "description": "A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.", "id": "MONDO:0700001", "name": "Shrinking lung syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SLS"], "xref": ["MEDGEN:743060", "UMLS:C1960277"]}
{"category": ["biolink:Disease"], "description": "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.", "id": "MONDO:0700002", "name": "Atp1a3-associated neurological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["ATP1A3 neurological disorder", "ATP1A3 related neurological disorder", "neurological disorder caused by mutation in ATP1A3"]}
{"category": ["biolink:Disease"], "description": "Disorder associated with pregnancy, childbirth, and puerperium.", "id": "MONDO:0700003", "name": "Obstetric disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare_grouping"]}
{"category": ["biolink:Disease"], "description": "A disease or disorder for which the cause is of uncertain or unknown.", "id": "MONDO:0700007", "name": "Idiopathic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["idiopathic disorder"], "xref": ["MEDGEN:548250", "UMLS:C0277553"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 1 is affected.", "id": "MONDO:0700008", "name": "Chromosome 1 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 2 is affected.", "id": "MONDO:0700009", "name": "Chromosome 2 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 3 is affected.", "id": "MONDO:0700010", "name": "Chromosome 3 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 4 is affected.", "id": "MONDO:0700011", "name": "Chromosome 4 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 5 is affected.", "id": "MONDO:0700012", "name": "Chromosome 5 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 6 is affected.", "id": "MONDO:0700013", "name": "Chromosome 6 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 7 is affected.", "id": "MONDO:0700014", "name": "Chromosome 7 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 8 is affected.", "id": "MONDO:0700015", "name": "Chromosome 8 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["anomaly of chromosome pair 8"], "xref": ["MEDGEN:539233", "SCTID:48082007", "UMLS:C0265418"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 9 is affected.", "id": "MONDO:0700016", "name": "Chromosome 9 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 10 is affected.", "id": "MONDO:0700017", "name": "Chromosome 10 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 11 is affected.", "id": "MONDO:0700018", "name": "Chromosome 11 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 12 is affected.", "id": "MONDO:0700019", "name": "Chromosome 12 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 13 is affected.", "id": "MONDO:0700020", "name": "Chromosome 13 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 14 is affected.", "id": "MONDO:0700021", "name": "Chromosome 14 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 15 is affected.", "id": "MONDO:0700022", "name": "Chromosome 15 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 16 is affected.", "id": "MONDO:0700023", "name": "Chromosome 16 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 19 is affected.", "id": "MONDO:0700024", "name": "Chromosome 19 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 20 is affected.", "id": "MONDO:0700025", "name": "Chromosome 20 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 22 is affected.", "id": "MONDO:0700026", "name": "Chromosome 22 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome X is affected.", "id": "MONDO:0700027", "name": "Chromosome x disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome Y is affected.", "id": "MONDO:0700028", "name": "Chromosome y disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700029", "name": "Partial duplication of chromosome 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026326"]}
{"category": ["biolink:Disease"], "description": "Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.", "id": "MONDO:0700030", "name": "Complete trisomy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["standard trisomy 21"], "xref": ["MEDGEN:1624021", "UMLS:C4521042"]}
{"category": ["biolink:Disease"], "description": "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.", "id": "MONDO:0700031", "name": "Mosaic trisomy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026328"]}
{"category": ["biolink:Disease"], "description": "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.", "id": "MONDO:0700032", "name": "Complete trisomy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026329", "MEDGEN:56262", "UMLS:C0152096"]}
{"category": ["biolink:Disease"], "description": "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.", "id": "MONDO:0700033", "name": "Complete trisomy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026330"]}
{"category": ["biolink:Disease"], "description": "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.", "id": "MONDO:0700034", "name": "Mosaic trisomy 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["trisomy 13 mosaicism"], "xref": ["GARD:0010869"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the absence of one chromosome 8.", "id": "MONDO:0700035", "name": "Monosomy chromosome 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["chromosome 8 deletion"], "xref": ["GARD:0026331", "MESH:C537823", "NCIT:C36535"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.", "id": "MONDO:0700036", "name": "Fibrothecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1668953", "UMLS:C4721918"]}
{"category": ["biolink:Disease"], "description": "A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.", "id": "MONDO:0700037", "name": "Testicular fibrothecoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026332"]}
{"category": ["biolink:Disease"], "description": "Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.", "id": "MONDO:0700038", "name": "Tdp-43 proteinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:439336", "MESH:D057177", "UMLS:C2718017"]}
{"category": ["biolink:Disease"], "description": "An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.", "id": "MONDO:0700039", "name": "Bladder exstrophy-epispadias-cloacal exstrophy complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["BEEC"], "xref": ["GARD:0026333", "MEDGEN:374033", "OMIM:600057", "UMLS:C1838703"]}
{"category": ["biolink:Disease"], "description": "Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.", "id": "MONDO:0700040", "name": "Neonatal jaundice due to abo incompatibility", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1683766", "SCTID:16716281000119108", "UMLS:C5190730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700041", "name": "Neuroblastoma, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["NBLST2", "neuroblastoma, susceptibility to, type 2", "susceptibility to neuroblastoma 2"], "xref": ["GARD:0028008", "MEDGEN:416607", "OMIM:613013", "UMLS:C2751682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700043", "name": "Syndrome caused by partial chromosomal duplication of the short arm of chromosome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026334"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.", "id": "MONDO:0700045", "name": "Protothecosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:508074", "UMLS:C0033735", "icd11.foundation:2034403589"]}
{"category": ["biolink:Disease"], "description": "Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.", "id": "MONDO:0700046", "name": "Baclofen withdrawal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.", "id": "MONDO:0700047", "name": "Premenopausal osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026335"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.", "id": "MONDO:0700048", "name": "Hand-foot syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["palmar-plantar erythrodysthesia"], "xref": ["MEDGEN:107497", "MESH:D060831", "NCIT:C27177", "UMLS:C0549410"]}
{"category": ["biolink:Disease"], "description": "An abscess that involves the liver.", "id": "MONDO:0700051", "name": "Liver abscess (disease)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abscess of liver", "hepatic abscess"], "xref": ["ICD10CM:K75.0", "NCIT:C99089", "SCTID:27916005", "icd11.foundation:1323593849"]}
{"category": ["biolink:Disease"], "description": "An abscess contained between the internal and external anal sphincters.", "id": "MONDO:0700052", "name": "Intersphincteric abscess", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:K61.4", "MEDGEN:574358", "SCTID:235795007", "UMLS:C0341384"]}
{"category": ["biolink:Disease"], "description": "Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.", "id": "MONDO:0700054", "name": "Microcephaly 6 with or without short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026336"]}
{"category": ["biolink:Disease"], "description": "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A", "id": "MONDO:0700055", "name": "Kif1a related neurological disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["KAND", "KIF1A neurological disorder", "neurological disorder caused by mutation in KIF1A", "neurological disorder caused by variation in KIF1A"], "xref": ["PMID:37259299"]}
{"category": ["biolink:Disease"], "description": "A nervous system disorder that has pain as a major feature.", "id": "MONDO:0700057", "name": "Neurological pain disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["neurologic pain syndrome", "neurological pain disease"], "xref": ["MEDGEN:602552", "UMLS:C0423704"]}
{"category": ["biolink:Disease"], "description": "Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.", "id": "MONDO:0700058", "name": "Morton neuroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Morton entrapment", "Morton metatarsalgia", "interdigital nerve compression syndrome", "interdigital neuralgia", "interdigital neuritis", "interdigital neuroma", "intermetatarsal neuroma"], "xref": ["MEDGEN:90231", "NCIT:C4075", "SCTID:30085007", "UMLS:C0311337"]}
{"category": ["biolink:Disease"], "description": "X-linked form of acute leukemia", "id": "MONDO:0700060", "name": "Leukemia, acute, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026337", "MEDGEN:502257", "OMIM:308960", "UMLS:C3501854"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.", "id": "MONDO:0700064", "name": "Aneuploidy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["chromosome number anomaly"], "xref": ["MEDGEN:294", "MESH:D000782", "NCIT:C2873", "UMLS:C0002938"]}
{"category": ["biolink:Disease"], "description": "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.", "id": "MONDO:0700065", "name": "Trisomy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["MEDGEN:21702", "MESH:D014314", "NCIT:C3421", "UMLS:C0041107"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the FKRP gene.", "id": "MONDO:0700066", "name": "Myopathy caused by variation in fkrp", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FKRP myopathy", "FKRP-related myopathy", "myopathy caused by mutation in FKRP"], "xref": ["GARD:0026339"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the FKTN gene.", "id": "MONDO:0700067", "name": "Myopathy caused by variation in fktn", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["FKTN myopathy", "FKTN-related myopathy", "myopathy caused by mutation in FKTN"], "xref": ["GARD:0026340"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.", "id": "MONDO:0700068", "name": "Myopathy caused by variation in pomgnt1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["POMGNT1 myopathy", "POMGNT1-related myopathy", "myopathy caused by mutation in POMGNT1"], "xref": ["GARD:0026341"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.", "id": "MONDO:0700069", "name": "Myopathy caused by variation in pomgnt2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["POMGNT2 myopathy", "POMGNT2-related myopathy", "myopathy caused by mutation in POMGNT2"], "xref": ["GARD:0026342"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the POMT1 gene.", "id": "MONDO:0700070", "name": "Myopathy caused by variation in pomt1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["POMT1 myopathy", "POMT1-related myopathy", "myopathy caused by mutation in POMT1"], "xref": ["GARD:0026343"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the POMT2 gene.", "id": "MONDO:0700071", "name": "Myopathy caused by variation in pomt2", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["POMT2 myopathy", "POMT2-related myopathy", "myopathy caused by mutation in POMT2"], "xref": ["GARD:0026344"]}
{"category": ["biolink:Disease"], "description": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.", "id": "MONDO:0700073", "name": "Glutaric acidemia iia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ETFA deficiency", "GA2A", "glutaric acidemia 2A", "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA"], "xref": ["GARD:0026345", "MEDGEN:479784", "UMLS:C3278154"]}
{"category": ["biolink:Disease"], "description": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.", "id": "MONDO:0700074", "name": "Glutaric acidemia iib", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ETFB deficiency", "GA2B", "glutaric acidemia 2B", "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB"], "xref": ["GARD:0026346", "MEDGEN:479785", "UMLS:C3278155"]}
{"category": ["biolink:Disease"], "description": "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.", "id": "MONDO:0700075", "name": "Congenital muscular dystrophy caused by variation in pomgnt2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital muscular dystrophy caused by mutation in POMGNT2", "congenital muscular dystrophy-POMGNT2 related"], "xref": ["GARD:0026347"]}
{"category": ["biolink:Disease"], "description": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.", "id": "MONDO:0700076", "name": "Glutaric acidemia iic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ETFDH deficiency", "GA2C", "glutaric acidemia 2C", "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH"], "xref": ["GARD:0026348", "MEDGEN:479786", "UMLS:C3278156"]}
{"category": ["biolink:Disease"], "description": "A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).", "id": "MONDO:0700078", "name": "Triple-positive breast carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HR-positive HER2 positive breast cancer", "hormone receptor positive her2 positive breast cancer", "triple positive breast cancer"], "xref": ["MEDGEN:1825949", "NCIT:C118311", "UMLS:C5243562"]}
{"category": ["biolink:Disease"], "description": "A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).", "id": "MONDO:0700079", "name": "Hormone receptor-positive breast cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HR-positive HER2-negative breast cancer", "hormone receptor positive breast cancer"], "xref": ["MEDGEN:1825950", "NCIT:C157056", "UMLS:C5442556"]}
{"category": ["biolink:Disease"], "description": "Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.", "id": "MONDO:0700080", "name": "Ephb4-associated vascular malformation spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.", "id": "MONDO:0700081", "name": "Newborn respiratory distress syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["RDS Of newborns", "RDS, respiratory distress syndrome Of newborns", "hyaline membrane disease", "infant ARDS", "infant acute respiratory distress syndrome", "infant respiratory distress syndrome", "neonatal respiratory distress", "neonatal respiratory distress syndrome", "newborns (RDS), respiratory distress syndrome Of", "respiratory distress syndrome Of newborns", "respiratory distress syndrome Of newborns (RDS)", "respiratory distress syndrome in the newborn", "respiratory distress syndrome of newborn", "syndrome Of newborns (RDS), respiratory distress"], "xref": ["DOID:12716", "EFO:1000644", "GARD:0026349", "ICD10CM:P22.0", "ICD9:769", "NCIT:C27560", "SCTID:46775006"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.", "id": "MONDO:0700082", "name": "Robertsonian translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026350", "MEDGEN:1816520", "NCIT:C188150", "UMLS:C5707615"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.", "id": "MONDO:0700083", "name": "Reciprocal translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026351"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which the cause of the disease is a variation in the GMPPB gene.", "id": "MONDO:0700084", "name": "Myopathy caused by variation in gmppb", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["GMPPB-related myopathy", "myopathy caused by mutation in GMPPB"], "xref": ["GARD:0026352"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.", "id": "MONDO:0700085", "name": "Pentasomy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.", "id": "MONDO:0700086", "name": "Uniparental disomy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:otar"], "xref": ["MEDGEN:181871", "MESH:D024182", "NCIT:C85215", "UMLS:C0949628"]}
{"category": ["biolink:Disease"], "description": "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene", "id": "MONDO:0700087", "name": "Usher syndrome type 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["Usher syndrome, type 1B"], "xref": ["DOID:0070655", "GARD:0005436", "MEDGEN:419358", "MESH:C536485", "OMIM:276900", "UMLS:C2931206"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.", "id": "MONDO:0700088", "name": "Paroxysmal nonkinesigenic dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Paroxystic non-kinesigenic choreoathetosis"], "xref": ["GARD:0008722", "MEDGEN:401504", "Orphanet:98810", "UMLS:C1869117"]}
{"category": ["biolink:Disease"], "description": "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.", "id": "MONDO:0700089", "name": "Paroxysmal nonkinesigenic dyskinesia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["PNKD paroxysmal dyskinesia", "PxMD-PNKD", "paroxysmal dyskinesia caused by mutation in PNKD", "paroxysmal nonkinesigenic dyskinesia 1", "paroxysmal nonkinesigenic dyskinesia type 1"], "xref": ["DOID:0090049", "GARD:0026355", "MEDGEN:1631383", "MedDRA:10065657", "MedDRA:10065658", "OMIM:118800", "UMLS:C4551506"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.", "id": "MONDO:0700090", "name": "Epilepsy, familial temporal lobe, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ADLTE", "ADPEAF", "ETL1", "epilepsy, familial temporal lobe, type 1", "epilepsy, lateral temporal lobe, autosomal dominant", "epilepsy, partial, with auditory features"], "xref": ["DOID:0060748", "GARD:0026356", "NCIT:C141441", "OMIM:600512"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.", "id": "MONDO:0700091", "name": "Ring chromosome disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["supernumerary circular chromosome"], "xref": ["DOID:0070620", "GARD:0026357", "MESH:D012303", "NCIT:C3360"]}
{"category": ["biolink:Disease"], "description": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.", "id": "MONDO:0700092", "name": "Neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["EFO:0010642", "MEDGEN:453059", "MESH:D065886", "MedDRA:10064062", "NCIT:C89338", "SCTID:700364009", "UMLS:C1535926"]}
{"category": ["biolink:Disease"], "description": "Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes.", "id": "MONDO:0700093", "name": "Balanced robertsonian translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026358"]}
{"category": ["biolink:Disease"], "description": "Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.", "id": "MONDO:0700094", "name": "Unbalanced robertsonian translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700096", "name": "Human disease", "provided_by": ["infores:medic"], "subsets": ["mondo:rare_grouping"], "synonym": ["human disease or disorder"]}
{"category": ["biolink:Disease"], "description": "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.", "id": "MONDO:0700107", "name": "Chromosome 19q13.11 deletion syndrome, distal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026360", "MEDGEN:935015", "OMIM:613026", "UMLS:C4311048"]}
{"category": ["biolink:Disease"], "description": "Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.", "id": "MONDO:0700112", "name": "Heterotaxy, visceral, 5, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["HTX5", "NODAL visceral heterotaxy", "SIV", "situs inversus viscerum", "visceral heterotaxy caused by mutation in NODAL"], "xref": ["GARD:0026361", "MEDGEN:501198", "OMIM:270100", "UMLS:C3495537"]}
{"category": ["biolink:Disease"], "description": "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.", "id": "MONDO:0700115", "name": "Proliferative vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:66167", "MESH:D018630", "SCTID:232016005", "UMLS:C0242852", "icd11.foundation:1908429642"]}
{"category": ["biolink:Disease"], "description": "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.", "id": "MONDO:0700116", "name": "Microcephaly with lissencephaly and/or hydranencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026362"]}
{"category": ["biolink:Disease"], "description": "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.", "id": "MONDO:0700117", "name": "Slc6a3-related dopamine transporter deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["DTDS", "Dopamine transporter deficiency syndrome"], "xref": ["DOID:0070487", "GARD:0026363"]}
{"category": ["biolink:Disease"], "description": "Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.", "id": "MONDO:0700118", "name": "Proximal chromosome 18q deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["proximal 18q deletion", "proximal 18q deletion syndrome", "proximal 18q-"], "xref": ["GARD:0010866", "MEDGEN:1634938", "UMLS:C4707101"]}
{"category": ["biolink:Disease"], "description": "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.", "id": "MONDO:0700119", "name": "Distal chromosome 18q deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["distal 18q deletion", "distal 18q deletion syndrome", "distal 18q-"], "xref": ["GARD:0026364", "MEDGEN:1382173", "UMLS:C4329736"]}
{"category": ["biolink:Disease"], "description": "Disorder caused by mutations in the various subunits composing the BAF complex.", "id": "MONDO:0700120", "name": "Bafopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"]}
{"category": ["biolink:Disease"], "description": "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.", "id": "MONDO:0700121", "name": "Actl6a-related bafopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.", "id": "MONDO:0700122", "name": "Pbrm1-related bafopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.", "id": "MONDO:0700123", "name": "Smarcc1-associated developmental dysgenesis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SMARCC1-related BAFopathy"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 21 is affected.", "id": "MONDO:0700124", "name": "Chromosome 21 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Chromosomal disorder in which chromosome 18 is affected.", "id": "MONDO:0700125", "name": "Chromosome 18 disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the presence of an extra chromosome 21.", "id": "MONDO:0700126", "name": "Trisomy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["MEDGEN:760825", "UMLS:C3537167"]}
{"category": ["biolink:Disease"], "description": "Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.", "id": "MONDO:0700127", "name": "Mosaic trisomy 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026368", "MEDGEN:419386", "UMLS:C2931324"]}
{"category": ["biolink:Disease"], "description": "Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.", "id": "MONDO:0700128", "name": "Translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026369", "MEDGEN:693553", "UMLS:C1269751"]}
{"category": ["biolink:Disease"], "description": "Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.", "id": "MONDO:0700129", "name": "Mosaic translocation down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026370"]}
{"category": ["biolink:Disease"], "description": "A chromosomal disorder consisting of the partial duplication of chromosome 21.", "id": "MONDO:0700130", "name": "Partial segmental duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["partial trisomy 21"], "xref": ["GARD:0026371"]}
{"category": ["biolink:Disease"], "description": "A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.", "id": "MONDO:0700200", "name": "Atypical dopamine transporter deficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["atypical DTDS"], "xref": ["DOID:0070488", "GARD:0026372"]}
{"category": ["biolink:Disease"], "description": "Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.", "id": "MONDO:0700207", "name": "Constitutional delay of growth and puberty", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:575091", "SCTID:237813007", "UMLS:C0342538", "icd11.foundation:1683573263"]}
{"category": ["biolink:Disease"], "description": "Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.", "id": "MONDO:0700215", "name": "Ntrk fusion positive cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NTRK fusion positive neoplasm", "NTRK fusion positive solid tumor", "NTRK fusion positive solid tumour", "neurotrophic tyrosine receptor kinase fusion positive cancer", "neurotrophic tyrosine receptor kinase fusion positive neoplasm", "neurotrophic tyrosine receptor kinase fusion positive solid tumor", "neurotrophic tyrosine receptor kinase fusion positive solid tumour"]}
{"category": ["biolink:Disease"], "description": "Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.", "id": "MONDO:0700216", "name": "Ret fusion positive cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RET fusion positive neoplasm", "RET fusion positive solid tumor", "RET fusion positive solid tumour"]}
{"category": ["biolink:Disease"], "description": "Bacterial infection in the bloodstream of newborn infants younger than 28 days old.", "id": "MONDO:0700217", "name": "Neonatal sepsis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:96816", "UMLS:C0456103"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Group B Streptococcus.", "id": "MONDO:0700218", "name": "Group b streptococcal infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:378336", "NCIT:C87168", "UMLS:C2020625"]}
{"category": ["biolink:Disease"], "description": "Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.", "id": "MONDO:0700219", "name": "Neoplastic meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["carcinomatous meningitis", "leptomeningeal carcinoma", "leptomeningeal carcinomatosis", "leptomeningeal metastasis", "meningeal carcinomatosis", "meningeal metastasis", "metastatic malignant neoplasm in the leptomeninges"], "xref": ["MEDGEN:352817", "NCIT:C27383", "NCIT:C3814", "UMLS:C1704231", "icd11.foundation:262966673"]}
{"category": ["biolink:Disease"], "description": "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.", "id": "MONDO:0700220", "name": "Disease related to transplantation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["MEDGEN:745174", "Orphanet:306644", "UMLS:C1998172"]}
{"category": ["biolink:Disease"], "description": "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.", "id": "MONDO:0700221", "name": "Disease related to solid organ transplantation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026373"]}
{"category": ["biolink:Disease"], "description": "Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.", "id": "MONDO:0700222", "name": "Disease related to hematopoietic stem cell transplant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026374"]}
{"category": ["biolink:Disease"], "description": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0700223", "name": "Hereditary skeletal muscle disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["genetic muscle disease", "genetic muscle disorder", "genetic muscular disease", "genetic muscular disorder", "hereditary muscle disorder"], "xref": ["GARD:0026375"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the PDE6A gene.", "id": "MONDO:0700224", "name": "Pde6a-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PDE6A-related retinopathy"], "xref": ["GARD:0026376"]}
{"category": ["biolink:Disease"], "description": "An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual.", "id": "MONDO:0700225", "name": "Hereditary gallbladder disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:600803"]}
{"category": ["biolink:Disease"], "description": "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.", "id": "MONDO:0700226", "name": "Food allergy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["allergic disease from food material", "allergy of food material", "food material allergic disease"], "xref": ["DOID:3044", "EFO:1001890", "ICD9:995.3", "MEDGEN:1635115", "MESH:D005512", "SCTID:414285001", "UMLS:C4554344"]}
{"category": ["biolink:Disease"], "description": "Any maculopathy caused by a variant in the ELOVL4 gene.", "id": "MONDO:0700227", "name": "Elovl4-related maculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ELOVL4-related maculopathy"], "xref": ["GARD:0026377"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.", "id": "MONDO:0700228", "name": "Lrp5-related exudative vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LRP5-related exudative vitreoretinopathy with or without osteoporosis"], "xref": ["GARD:0026378"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the MAK gene.", "id": "MONDO:0700229", "name": "Mak-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MAK-related retinopathy"], "xref": ["GARD:0026379"]}
{"category": ["biolink:Disease"], "description": "Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.", "id": "MONDO:0700230", "name": "Gpr143-related foveal hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GPR143-related foveal hypoplasia with or without albinism"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.", "id": "MONDO:0700231", "name": "Tspan12-related exudative vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TSPAN12-related exudative vitreoretinopathy"], "xref": ["GARD:0026380"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the KIZ gene.", "id": "MONDO:0700232", "name": "Kiz-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KIZ-related retinopathy"], "xref": ["GARD:0026381"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the TOPORS gene.", "id": "MONDO:0700233", "name": "Topors-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TOPORS-related retinopathy"], "xref": ["GARD:0026382"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the PRPF8 gene.", "id": "MONDO:0700234", "name": "Prpf8-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PRPF8-related retinopathy"], "xref": ["GARD:0026383"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the RD3 gene.", "id": "MONDO:0700235", "name": "Rd3-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RD3-related retinopathy"], "xref": ["GARD:0026384"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS9 gene.", "id": "MONDO:0700236", "name": "Bbs9-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS9-related ciliopathy"], "xref": ["GARD:0026385"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS10 gene.", "id": "MONDO:0700237", "name": "Bbs10-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS10-related ciliopathy"], "xref": ["GARD:0026386"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a heterozygous variant in the BEST1 gene.", "id": "MONDO:0700238", "name": "Best1-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BEST1-related dominant retinopathy"], "xref": ["GARD:0026387"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by bi-allelic variants in the BEST1 gene.", "id": "MONDO:0700239", "name": "Best1-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BEST1-related recessive retinopathy"], "xref": ["GARD:0026388"]}
{"category": ["biolink:Disease"], "description": "Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.", "id": "MONDO:0700240", "name": "Best1-related vitreoretinochoroidopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ADVRIC", "BEST1-related vitreoretinochoroidopathy"], "xref": ["GARD:0026389"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by bi-allelic variants in the IMPG2 gene.", "id": "MONDO:0700241", "name": "Impg2-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMPG2-related recessive retinopathy"], "xref": ["GARD:0026390"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a heterozygous variant in the IMPG2 gene.", "id": "MONDO:0700242", "name": "Impg2-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMPG2-related dominant retinopathy"], "xref": ["GARD:0026391"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the CACNA1F gene.", "id": "MONDO:0700243", "name": "Cacna1f-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CACNA1F-related retinopathy"], "xref": ["GARD:0026392"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the CACNA2D4 gene.", "id": "MONDO:0700244", "name": "Cacna2d4-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CACNA2D4-related retinopathy"], "xref": ["GARD:0026393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700245", "name": "Epidermolytic hyperkeratosis 2b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061208", "GARD:0026394", "MEDGEN:1845041", "OMIM:620707", "UMLS:C5882753"]}
{"category": ["biolink:Disease"], "description": "Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.", "id": "MONDO:0700246", "name": "Ocular dysgenesis caused by defects in pax6 regulation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises 96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter 10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.", "id": "MONDO:0700247", "name": "Rab18 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Warburg micro spectrum"], "xref": ["GARD:0026395", "MEDGEN:1650928", "UMLS:C4750414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700248", "name": "Epidermolytic hyperkeratosis 2a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061223", "GARD:0026396", "MEDGEN:1846123", "OMIM:620150", "UMLS:C5882671"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700249", "name": "Epidermolytic hyperkeratosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081358", "GARD:0026397", "MEDGEN:1826137", "OMIM:113800", "UMLS:C5781874"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene.", "id": "MONDO:0700250", "name": "Mitochondrial complex iv deficiency, nuclear type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070491", "GARD:0015158", "MEDGEN:1750917", "OMIM:220110", "UMLS:C5435656"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700251", "name": "Orofacial cleft 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080400", "MEDGEN:371589", "UMLS:C1833538"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the endocrine system.", "id": "MONDO:0700252", "name": "Parneoplastic endocrine syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the hematopoietic system.", "id": "MONDO:0700253", "name": "Paraneoplastic hematological syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026398"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the digestive system.", "id": "MONDO:0700254", "name": "Paraneoplastic gastrointestinal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the renal system.", "id": "MONDO:0700255", "name": "Paraneoplastic renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.", "id": "MONDO:0700256", "name": "Trex1-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026399"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.", "id": "MONDO:0700257", "name": "Rnaseh2b-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026400"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.", "id": "MONDO:0700258", "name": "Rnaseh2c-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026401"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.", "id": "MONDO:0700259", "name": "Rnaseh2a-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026402"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.", "id": "MONDO:0700260", "name": "Samhd1-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026403"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.", "id": "MONDO:0700261", "name": "Adar-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026404"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.", "id": "MONDO:0700262", "name": "Ifih1-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026405"]}
{"category": ["biolink:Disease"], "description": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.", "id": "MONDO:0700263", "name": "Rnu7-1-related type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026406"]}
{"category": ["biolink:Disease"], "description": "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.", "id": "MONDO:0700264", "name": "Type 1 interferonopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021957", "MEDGEN:1712223", "Orphanet:477647", "UMLS:C5394397"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.", "id": "MONDO:0700265", "name": "Paraneoplastic rheumatic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Paraneoplastic syndrome that involves the integumental system.", "id": "MONDO:0700266", "name": "Paraneoplastic cutaneous syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.", "id": "MONDO:0700267", "name": "Bard1-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026407"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.", "id": "MONDO:0700268", "name": "Brca1-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026408"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.", "id": "MONDO:0700269", "name": "Brca2-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026409"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.", "id": "MONDO:0700270", "name": "Atm-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026410"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.", "id": "MONDO:0700271", "name": "Chek2-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026411", "MEDGEN:1849727", "UMLS:C5882668"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.", "id": "MONDO:0700272", "name": "Palb2-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026412"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.", "id": "MONDO:0700273", "name": "Rad51c-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026413"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.", "id": "MONDO:0700274", "name": "Rad51d-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0026414"]}
{"category": ["biolink:Disease"], "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.", "id": "MONDO:0700275", "name": "Prostate cancer, hereditary", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027144", "MEDGEN:419810", "MESH:C537243", "OMIM:176807", "Orphanet:1331", "SCTID:715412008", "UMLS:C2931456"]}
{"category": ["biolink:Disease"], "description": "Disorder in which the cause of disease is a variation in the POLR3A gene.", "id": "MONDO:0700276", "name": "Polr3a-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Disorder in which the cause of disease is a variation in the POLR3B gene.", "id": "MONDO:0700277", "name": "Polr3b-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Disorder in which the cause of disease is a variation in the POLR1C gene.", "id": "MONDO:0700278", "name": "Polr1c-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face.", "id": "MONDO:0700279", "name": "Spastic triplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["spastic triplegic", "triplegia spastic", "triplegic CP", "triplegic cerebral palsy", "triplegic spastic", "triplegic spasticity"], "xref": ["MEDGEN:1814346", "SCTID:702320006", "UMLS:C5676777"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by the infection in Lyme disease and manifesting after the original infection.", "id": "MONDO:0700280", "name": "Post-treatment lyme disease syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PLDS", "disorder due to consequences of Lyme disease", "post-Lyme disease", "post-Lyme disease syndrome", "post-treatment Lyme disease syndrome"], "xref": ["MEDGEN:855646", "NCIT:C119039", "UMLS:C3890422"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant complex neurodevelopmental disorder in which the cause of the disease is a mutation in the MYH10 gene.", "id": "MONDO:0700281", "name": "Myh10-related neurodevelopmental disorder with congenital anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027145"]}
{"category": ["biolink:Disease"], "description": "Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.", "id": "MONDO:0700282", "name": "Polr3-related leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027146", "MEDGEN:871615", "UMLS:C4038750"]}
{"category": ["biolink:Disease"], "description": "A mixed cerebral palsy that is characterized by pathogenetic and clinical presentations of both ataxic cerebral palsy and spastic diplegia. In ataxic diplegic children, all extremities are neurologically affected. There is more voluntary control in the upper extremities, spasticity and stiffness in the lower extremities that affect children’s ability to roll, sit, stand, and ambulate; as well as signs and symptoms of loss of balance and coordination.", "id": "MONDO:0700283", "name": "Ataxic diplegic cerebral palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ataxic diplegic", "ataxic-spastic diplegia", "ataxic/spastic diplegia", "diplegic ataxia", "diplegic ataxic", "spastic-ataxic diplegia", "spastic/ataxic diplegia"], "xref": ["MEDGEN:581729", "UMLS:C0393997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700284", "name": "Carnitine palmitoyl transferase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700285", "name": "Dmd-related muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DMD-related musculodystrophy"], "xref": ["GARD:0027378"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700286", "name": "Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051014", "GARD:0027379", "MEDGEN:1875111", "OMIM:621061", "UMLS:C5975581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700288", "name": "Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027380", "MEDGEN:1876471", "OMIM:621129", "UMLS:C6012705"]}
{"category": ["biolink:Disease"], "description": "A combined immunodeficiency in which other clinical features are present in other organ systems in addition to immunodeficiency.", "id": "MONDO:0700289", "name": "Combined immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CID syndrome", "combined immunodeficiency syndrome"], "xref": ["GARD:0028009"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700290", "name": "Spermatogenic failure 98", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876475", "OMIM:621124", "UMLS:C6012703"]}
{"category": ["biolink:Disease"], "description": "A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.", "id": "MONDO:0700291", "name": "Glycogen storage disease ix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["GSD IX", "GSD type 9", "GSD type IX", "GSD9", "GSDIX", "glycogen storage disease 9", "glycogen storage disease IX", "glycogen storage disease type 9", "glycogen storage disease type IX", "glycogenosis due to phosphorylase kinase deficiency", "glycogenosis type 9", "glycogenosis type IX", "phosphorylase kinase deficiency"], "xref": ["DOID:0050594", "GARD:0027381", "MEDGEN:468559", "MESH:C580130", "NCIT:C122662", "Orphanet:370", "SCTID:235908005", "UMLS:C0268147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700292", "name": "Desmoplastic fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027382", "MEDGEN:60200", "UMLS:C0206645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700293", "name": "Wfs1-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028010"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700295", "name": "Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027383", "OMIM:169500"]}
{"category": ["biolink:Disease"], "description": "A disease caused by consuming food or feed contaminated with aflatoxins.", "id": "MONDO:0700296", "name": "Aflatoxicosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:546075", "UMLS:C0274911"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700297", "name": "Homocystinuria-megaloblastic anemia cbld type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027384", "MEDGEN:341254", "OMIM:620952", "UMLS:C1848553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700298", "name": "Isolated methylmalonic aciduria cbld type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027385", "OMIM:620953"]}
{"category": ["biolink:Disease"], "description": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the KDM1A gene.", "id": "MONDO:0700299", "name": "Acth-independent macronodular adrenal hyperplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["ACTH-independent macronodular adrenal hyperplasia-3", "AIMAH3", "Cushing syndrome, food-dependent"], "xref": ["GARD:0027386", "MEDGEN:1875015", "OMIM:620990", "UMLS:C5975485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700300", "name": "Achalasia-progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027387", "MEDGEN:1876522", "OMIM:621123", "UMLS:C6012702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700301", "name": "Fischer-zirnsak progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027388", "MEDGEN:1876447", "OMIM:621130", "UMLS:C6012706"]}
{"category": ["biolink:Disease"], "description": "A palsy characterized by a paralysis of the arm caused by an injury to the upper group of the main nerves supplying it, specifically the upper trunk C5-C6 of the brachial plexus. Erb palsy most commonly, though not exclusively, arises as a result of an injury sustained during birth.", "id": "MONDO:0700303", "name": "Erb palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Erb's palsy", "Erb-Duchenne paralysis"], "xref": ["GARD:0027389", "ICD10CM:P14.0", "MEDGEN:78746", "SCTID:78141002", "UMLS:C0270897"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency disease in which the cause of the disease is a variation in the FASLG gene.", "id": "MONDO:0700306", "name": "Faslg-related immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ALPS-FASLG", "Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation", "FASLG-related immunodeficiency", "TNFSF6-related immunodeficiency"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700307", "name": "Spastic paraplegia 30a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070647", "GARD:0028011", "OMIM:610357"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency disease in which the cause of the disease is a variation in the TNFRSF9 gene.", "id": "MONDO:0700308", "name": "Tnfrsf9-related immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TNFRSF9-related immunodeficiency"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700309", "name": "Spastic paraplegia 18b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070641", "GARD:0028012", "OMIM:611225"]}
{"category": ["biolink:Disease"], "description": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the DNAJC21 gene.", "id": "MONDO:0700311", "name": "Dnajc21-related shwachman diamond syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DNAJC21-related Shwachman Diamond syndrome"], "xref": ["GARD:0028013"]}
{"category": ["biolink:Disease"], "description": "Any human disease (syndromic or non syndromic) in which the cause of the disease is a variation in the CACNA1C gene.", "id": "MONDO:0700321", "name": "Cacna1c-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A central nervous system dysperception disorder characterized by the perception of a sound not justified by any internal or external vibration, lasting at least 5 minutes and occurring more than once a week, arising from maladaptive neuroplasticity secondary to an organic cochlear peripheral lesion, and classifiable as positive auditory hallucinosis in the absence of delusional attitudes or behaviors.", "id": "MONDO:0700322", "name": "Tinnitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD10CM:H93.1"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C4A gene.", "id": "MONDO:0700323", "name": "Systemic lupus erythematosus related to c4a", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.", "id": "MONDO:0700324", "name": "Smad6-related disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis"]}
{"category": ["biolink:Disease"], "description": "A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.", "id": "MONDO:0700325", "name": "Parkes weber syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PWS"], "xref": ["Orphanet:90307"]}
{"category": ["biolink:Disease"], "description": "An immune disorder in which the cause of the disease is a variation in the interferon activation domain of the IRF4 gene.", "id": "MONDO:0700327", "name": "Irf4-related immune disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["IRF4-related immune disorder"]}
{"category": ["biolink:Disease"], "description": "A glomerular disorder caused by the structural or functional impairment of podocytes, which leads to proteinuria and often nephrotic syndrome.", "id": "MONDO:0700328", "name": "Podocytopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["SCTID:1367669003"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700330", "name": "Pten harmartoma tumor syndrome with immune disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PTEN harmartoma tumor syndrome with immune disorder"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of Aicardi-Goutieres syndrome 1.", "id": "MONDO:0700333", "name": "Trex1-related autosomal dominant aicardi-goutieres syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1), autosomal dominant", "TREX1-related autosomal dominant Aicardi-Goutieres syndrome"], "xref": ["GARD:0028014"]}
{"category": ["biolink:Disease"], "description": "A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.", "id": "MONDO:0700335", "name": "Familial isolated dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["familial isolated dilated cardiomyopathy", "familial or idiopathic dilated cardiomyopathy"], "xref": ["GARD:0027293", "MEDGEN:1826005", "Orphanet:154", "UMLS:C5679590", "icd11.foundation:949016860"]}
{"category": ["biolink:Disease"], "description": "Cancer in which a carcinoma, usually of the digestive tract or female reproductive organs, has spread extensively throughout the peritoneum and causes tumors to grow on the peritoneum. Peritoneal carcinomatosis can happen in many types of cancer, but it is most common in people with cancers of the ovary, colon, rectum, stomach, pancreas, or appendix.", "id": "MONDO:0700336", "name": "Peritoneal carcinomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["abdominal carcinomatosis", "carcinomatosis of the peritoneum", "peritoneal carcinomatosis"], "xref": ["MEDGEN:577752", "NCIT:C27382", "UMLS:C0346990", "icd11.foundation:1523083931"]}
{"category": ["biolink:Disease"], "description": "Any renal tubular dysgenesis in which the cause of the disease is a mutation in the ACE gene.", "id": "MONDO:0700337", "name": "Renal tubular dysgenesis - ace", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACE related renal tubular dysgenesis"], "xref": ["GARD:0027294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700338", "name": "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061169", "MEDGEN:1875068", "OMIM:621030", "UMLS:C5975538"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene.", "id": "MONDO:0700339", "name": "Dnm1-encephalopathy and neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DNM1-related DEE", "DNM1-related developmental and epileptic encephalopathy"], "xref": ["GARD:0027295"]}
{"category": ["biolink:Disease"], "description": "Rare congenital urological condition, subtype of buried penis, characterized by redundant inner prepuce, phimosis and deficient penile skin, leading to ballooning foreskin that can trap urine, and characterized by an abnormally large, ballooning foreskin that can trap urine, leading to ballooning during urination, difficulty emptying the bladder, and recurrent infections.", "id": "MONDO:0700340", "name": "Congenital megaprepuce", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMP"], "xref": ["MEDGEN:940198", "Orphanet:696897", "UMLS:C4316485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700341", "name": "Monilethrix-2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061152", "GARD:0028015", "MEDGEN:1876490", "OMIM:621169", "UMLS:C6012713"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700342", "name": "Monilethrix-3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061153", "GARD:0028016", "MEDGEN:1876497", "OMIM:621170", "UMLS:C6012714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700343", "name": "Monilethrix-1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061145", "GARD:0028017", "MEDGEN:1876529", "OMIM:158000", "UMLS:C6012688"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity.", "id": "MONDO:0700344", "name": "Cep164-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliopathy-CEP164"], "xref": ["GARD:0028018"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the TMEM127 gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma.", "id": "MONDO:0700345", "name": "Tmem127-related tumor predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["TMEM127-related tumor predisposition"], "xref": ["GARD:0028019"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the MAX gene, characterized by an increased risk of pheochromocytoma and paraganglioma.", "id": "MONDO:0700346", "name": "Max-related tumor predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["MAX-related tumor predisposition"], "xref": ["GARD:0028020"]}
{"category": ["biolink:Disease"], "description": "Mitochondrial complex II deficiency due to pathogenic variants in the SDHC gene, resulting in a variety of clinical manifestations, including neurological and muscular symptoms.", "id": "MONDO:0700347", "name": "Sdhc-related mitochondrial disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SDHC-related Mitochondrial Disease"], "xref": ["GARD:0028021"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer.", "id": "MONDO:0700348", "name": "Bmpr1a-related juvenile polyposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["BMPR1A-related juvenile polyposis syndrome"], "xref": ["GARD:0028022"]}
{"category": ["biolink:Disease"], "description": "A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase.", "id": "MONDO:0700349", "name": "Actn2-related cardiac and skeletal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028023"]}
{"category": ["biolink:Disease"], "description": "A complex neurodevelopmental disorder caused by a variation in the GRIN2B gene", "id": "MONDO:0700350", "name": "Grin2b-related complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028024"]}
{"category": ["biolink:Disease"], "description": "A tauopathy characterized pathologically by the presence of silver stain positive lesions called argyrophilic grains, oligodendrocytic coiled bodies, and neuronal tau-positive pretangles.", "id": "MONDO:0700351", "name": "Argyrophilic grain disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AGD"], "xref": ["MEDGEN:572581", "UMLS:C0338460"]}
{"category": ["biolink:Disease"], "description": "A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy.", "id": "MONDO:0700352", "name": "Actc1-related distal arthrogryposis with congenital heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028025"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities.", "id": "MONDO:0700353", "name": "Cnot9-related developmental disorder with seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies.", "id": "MONDO:0700354", "name": "Hmgb1-related brachyphalangy, polydactyly and tibial aplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028026"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities", "id": "MONDO:0700355", "name": "Atxn7l3-related developmental delay, hypotonia and facial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies.", "id": "MONDO:0700356", "name": "Dip2c-related developmental disorder with speech delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the EPB41L3 gene. This disorder is characterised by global developmental delay, mild to moderate intellectual disability, early-onset seizures, and delayed myelination. Additional brain MRI abnormalities include thin corpus callosum, mild cerebellar atrophy, hyperintensities in the posterior limb of internal capsule and pyramidal tract. Other phenotypic features commonly reported include dystonia, strabismus, spasticity, tremors, and autistic features.", "id": "MONDO:0700357", "name": "Epb41l3-related developmental disorder with delayed myelination and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability.", "id": "MONDO:0700358", "name": "Gabra4-related neurodevelopmental disorder with seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities.", "id": "MONDO:0700359", "name": "Gabrd-related neurodevelopmental disorder with epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the KCNK3 gene. This disorder is characterised by global developmental delay, central and/or obstructive sleep apnea. hypotonia, and feeding difficulties. Most patients also present structural malformations, including microcephaly, arthrogryposis/flexion contractures, scoliosis, cleft palate and bilateral talipes, with some facial dysmorphology, and ambiguous genitalia in male probands.", "id": "MONDO:0700360", "name": "Kcnk3-related developmental delay with sleep apnea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities.", "id": "MONDO:0700361", "name": "Rfx3-related neurodevelopmental disorder with autism and other behavioural abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the RFX4 gene. This disorder is characterised by global developmental delay and/or intellectual disability, and behavioural abnormalities including documented autism spectrum disorder.", "id": "MONDO:0700362", "name": "Rfx4-related neurodevelopmental disorder with autism and other behavioural abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the KDM2B gene. This disorder is characterised by speech delay, developmental delay, learning difficulties, and/or intellectual disability. Patients often present behavioral abnormalities including including autism and attention deficit hyperactivity disorder. Other phenotypic features commonly reported include heart defects, unilateral kidney agenesis, ophthalmological anomalies, broad nasal tip, large ear lobes, and exaggerated Cupid’s bow.", "id": "MONDO:0700363", "name": "Kdm2b-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the TRA2B gene. This disorder is characterised by intellectual disability and/or developmental delay, with delayed or absent speech and delayed motor development. Most patients present axial or global hypotonia in the neonatal to infancy period, and brain MRI abnormalities. Other phenotypic features commonly reported include infantile spasms, microcephaly, variable behavioral abnormalities, feeding difficulties, and short stature.", "id": "MONDO:0700364", "name": "Tra2b-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities.", "id": "MONDO:0700365", "name": "Wdr5-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities.", "id": "MONDO:0700366", "name": "Arf3-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the CBX1 gene. This disorder is characterised by global motor and language developmental delay, intellectual disability, hypotonia, autism spectrum disorder, and variable dysmorphic features.", "id": "MONDO:0700367", "name": "Cbx1-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities.", "id": "MONDO:0700368", "name": "Ddx17-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the FEZF2 gene. This disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, and/or attention deficit hyperactivity disorder.", "id": "MONDO:0700369", "name": "Fezf2-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the HDAC3 gene. This disorder is characterised by intellectual disability and neurodevelopmental delay. Phenotypes commonly reported include musculoskeletal abnormalities, abnormalities of the genitourinary system, and brain imaging abnormalities. Other phenotypes observed less frequently include microcephaly, hearing impairments, congenital heart disease, and autistic behavior.", "id": "MONDO:0700370", "name": "Hdac3-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.", "id": "MONDO:0700371", "name": "Severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028027", "MEDGEN:1658790", "Orphanet:397593", "UMLS:C4750855"]}
{"category": ["biolink:Disease"], "description": "Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia.", "id": "MONDO:0700372", "name": "Afg3l2-related optic atrophy and/or spastic ataxia spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["AFG3L2-related optic atrophy and/or spastic ataxia spectrum"], "xref": ["GARD:0028028"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.", "id": "MONDO:0700374", "name": "Cfap418-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFAP418-related ciliopathy"], "xref": ["GARD:0028029"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65.", "id": "MONDO:0700375", "name": "Cdhr1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDHR1-related retinopathy"], "xref": ["GARD:0028030"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14.", "id": "MONDO:0700376", "name": "Guca1a-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GUCA1A-related retinopathy"], "xref": ["GARD:0028031"]}
{"category": ["biolink:Disease"], "description": "Any vitreoretinopathy caused by a variant in the NDP gene, including cases diagnosed as Norrie disease or X-linked exudative vitreoretinopathy 2.", "id": "MONDO:0700377", "name": "Ndp-related vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NDP-related vitreoretinopathy including Norrie syndrome"], "xref": ["GARD:0028032"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly.", "id": "MONDO:0700378", "name": "Wdpcp-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["WDPCP-related ciliopathy"], "xref": ["GARD:0028033"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the SDCCAG8 gene, including cases diagnosed as Bardet-Biedl syndrome 16 or Senior-Loken syndrome 7.", "id": "MONDO:0700379", "name": "Sdccag8-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SDCCAG8-related ciliopathy"], "xref": ["GARD:0028034"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4.", "id": "MONDO:0700380", "name": "Rho-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RHO-related retinopathy"], "xref": ["GARD:0028035"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700381", "name": "Macular dystrophy, retinal, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028036", "MEDGEN:1840630", "UMLS:C5829994"]}
{"category": ["biolink:Disease"], "description": "A hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia.", "id": "MONDO:0700382", "name": "Hmbs-related hepatic porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HMBS-related hepatic porphyria"], "xref": ["GARD:0028037"]}
{"category": ["biolink:Disease"], "description": "A hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to 25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation.", "id": "MONDO:0700383", "name": "Ppox-related hepatic porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PPOX-related hepatic porphyria"], "xref": ["GARD:0028038"]}
{"category": ["biolink:Disease"], "description": "A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme.", "id": "MONDO:0700384", "name": "Porphyria, acute intermittent, nonerythroid variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028039", "MEDGEN:357392", "UMLS:C1867969"]}
{"category": ["biolink:Disease"], "description": "A Camurati-Engelmann disease caused by a variation in the TGFB1 gene.", "id": "MONDO:0700385", "name": "Camurati-engelmann disease type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061229", "OMIM:131300"]}
{"category": ["biolink:Disease"], "description": "An enhanced S-cone syndrome caused by a variation in the NRL gene.", "id": "MONDO:0700386", "name": "Enhanced s-cone syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061232", "OMIM:621371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700387", "name": "Dentin dysplasia, type ib", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621440"]}
{"category": ["biolink:Disease"], "description": "A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the TNNI3K gene.", "id": "MONDO:0700388", "name": "Cardiac conduction disease with or without dilated cardiomyopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:616117"]}
{"category": ["biolink:Disease"], "description": "A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the POPDC2 gene.", "id": "MONDO:0700389", "name": "Cardiac conduction disease with or without cardiomyopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700390", "name": "Follicular lymphoma, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["OMIM:621230"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700391", "name": "Autoinflammation and autoimmunity with immune dysregulation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "xref": ["OMIM:616414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700392", "name": "Autoinflammation and autoimmunity with immune dysregulation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700393", "name": "Idiopathic triglyceride deposit cardiomyovasculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:692296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700415", "name": "Non-paraneoplastic sensory ganglionopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028040", "MEDGEN:1843264", "Orphanet:208989", "UMLS:C5679793"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700416", "name": "Paraneoplastic sensory ganglionopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028041", "MEDGEN:1842406", "Orphanet:208999", "UMLS:C5679792"]}
{"category": ["biolink:Disease"], "description": "A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.", "id": "MONDO:0700418", "name": "Idiopathic hypercalciuria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028042", "MEDGEN:1433919", "Orphanet:2197", "UMLS:C0543800"]}
{"category": ["biolink:Disease"], "description": "A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.", "id": "MONDO:0700419", "name": "Semilobar holoprosencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0028043", "MEDGEN:199694", "Orphanet:220386", "UMLS:C0751617"]}
{"category": ["biolink:Disease"], "description": "A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.", "id": "MONDO:0700424", "name": "Prenatal benign hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0028044", "MEDGEN:1842672", "Orphanet:247638", "UMLS:C5679616"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.", "id": "MONDO:0700428", "name": "Hypomyelination neuropathy-arthrogryposis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028045", "MEDGEN:1647504", "Orphanet:2680", "UMLS:C4707882"]}
{"category": ["biolink:Disease"], "description": "A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.", "id": "MONDO:0700447", "name": "Anterior urethral valve", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028046", "MEDGEN:609136", "Orphanet:435372", "UMLS:C0431755"]}
{"category": ["biolink:Disease"], "description": "A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.", "id": "MONDO:0700463", "name": "Congenital trochlear nerve palsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028047", "MEDGEN:1810147", "Orphanet:98686", "UMLS:C5680340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0700466", "name": "Presynaptic congenital myasthenic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0028048", "MEDGEN:155651", "Orphanet:98914", "UMLS:C0751884"]}
{"category": ["biolink:Disease"], "description": "A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.", "id": "MONDO:0700478", "name": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028049", "Orphanet:566243"]}
{"category": ["biolink:Disease"], "description": "A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.", "id": "MONDO:0700479", "name": "Mirror-image polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028050", "MEDGEN:1814580", "Orphanet:498494", "UMLS:C5700308"]}
{"category": ["biolink:Disease"], "description": "A lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).", "id": "MONDO:0700513", "name": "Apolipoprotein a-i deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028051", "MEDGEN:137983", "Orphanet:425", "UMLS:C0342898"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.", "id": "MONDO:0800025", "name": "Teebi hypertelorism syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Brachycephalofrontonasal dysplasia", "craniofrontonasal dysplasia, Teebi type"], "xref": ["DOID:0080698", "GARD:0000957", "OMIM:145420", "Orphanet:1519", "SCTID:724284005"]}
{"category": ["biolink:Disease"], "description": "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.", "id": "MONDO:0800026", "name": "Central hypoventilation syndrome, congenital, 1, with or without hirschsprung disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CCHS", "Ondine curse", "Ondine curse, congenital", "Ondine syndrome", "autonomic control, congenital failure of", "congenital Ondine curse", "congenital central alveolar hypoventilation syndrome", "congenital central hypoventilation", "congenital central hypoventilation syndrome"], "xref": ["DOID:0060731", "GARD:0008535", "MEDGEN:1794285", "MedDRA:10007982", "MedDRA:10066131", "NCIT:C98889", "OMIM:209880", "Orphanet:661", "SCTID:230499002", "UMLS:C5562075", "icd11.foundation:1750742010"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.", "id": "MONDO:0800027", "name": "Leukoencephalopathy, diffuse hereditary, with spheroids 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ALSP", "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia", "CSF1R-related ALSP", "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "FPSG", "GPSC", "POLD", "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "autosomal dominant leukoencephalopathy with neuroaxonal spheroids", "dementia, familial, Neumann type", "familial dementia, Neumann type", "familial progressive subcortical gliosis", "gliosis, familial progressive subcortical", "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant", "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia", "pigmentary orthochromatic leukodystrophy", "subcortical gliosis of Neumann"], "xref": ["DOID:0080523", "GARD:0010981", "ICD9:323.81", "MEDGEN:1794139", "MESH:C580150", "NCIT:C153289", "NORD:2033", "OMIM:221820", "Orphanet:313808", "SCTID:702427005", "UMLS:C5561929"]}
{"category": ["biolink:Disease"], "description": "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.", "id": "MONDO:0800028", "name": "Dyskinesia with orofacial involvement, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FDFM", "dyskinesia, familial, with facial myokymia"], "xref": ["GARD:0012722", "MEDGEN:338280", "MESH:C564676", "OMIM:606703", "Orphanet:324588", "SCTID:763352005", "UMLS:C1847627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800029", "medic_stub": true, "name": "obsolete interstitial lung disease 2", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.", "id": "MONDO:0800030", "name": "Gastrointestinal defects and immunodeficiency syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["FIPA", "MINAT", "familial intestinal polyatresia syndrome", "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency"], "xref": ["DOID:14671", "GARD:0017731", "MEDGEN:1872649", "OMIM:243150", "UMLS:C5968858"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800031", "name": "Central hypoventilation syndrome, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:220902", "OMIMPS:209880", "UMLS:C1275808"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.", "id": "MONDO:0800032", "name": "Melas syndrome caused by mutation in mttl1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTL1 MELAS syndrome"], "xref": ["GARD:0026415"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.", "id": "MONDO:0800033", "name": "Melas syndrome caused by mutation in mttq", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTQ MELAS syndrome"], "xref": ["GARD:0026416"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.", "id": "MONDO:0800034", "name": "Melas syndrome caused by mutation in mtth", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTH MELAS syndrome"], "xref": ["GARD:0026417"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.", "id": "MONDO:0800035", "name": "Melas syndrome caused by mutation in mttk", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTK MELAS syndrome"], "xref": ["GARD:0026418"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.", "id": "MONDO:0800036", "name": "Melas syndrome caused by mutation in mttc", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTC MELAS syndrome"], "xref": ["GARD:0026419"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.", "id": "MONDO:0800037", "name": "Melas syndrome caused by mutation in mtts1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTS1 MELAS syndrome"], "xref": ["GARD:0026420"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.", "id": "MONDO:0800038", "name": "Melas syndrome caused by mutation in mtnd1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTND1 MELAS syndrome"], "xref": ["GARD:0026421"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.", "id": "MONDO:0800039", "name": "Melas syndrome caused by mutation in mtnd5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTND5 MELAS syndrome"], "xref": ["GARD:0026422"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.", "id": "MONDO:0800040", "name": "Melas syndrome caused by mutation in mtnd6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTND6 MELAS syndrome"], "xref": ["GARD:0026423"]}
{"category": ["biolink:Disease"], "description": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.", "id": "MONDO:0800041", "name": "Melas syndrome caused by mutation in mtts2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MTTS2 MELAS syndrome"], "xref": ["GARD:0026424"]}
{"category": ["biolink:Disease"], "description": "A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.", "id": "MONDO:0800042", "name": "Restrictive dermopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["fetal hypokinesia sequence due to restrictive dermopathy", "foetal hypokinesia sequence due to restrictive dermopathy", "hyperkeratosis-contracture syndrome", "restrictive dermopathy 1, lethal", "tight skin contracture syndrome, lethal"], "xref": ["DOID:0070369", "GARD:0026425", "MEDGEN:1812447", "MESH:C536920", "OMIM:275210", "SCTID:400128006", "UMLS:C5676878"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.", "id": "MONDO:0800043", "name": "Stüve-wiedemann syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SJS2", "STWS", "Schwartz-Jampel syndrome neonatal", "Schwartz-Jampel syndrome type 2", "Schwartz-Jampel syndrome, neonatal", "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome", "Stüve-Wiedemann dysplasia", "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome", "neonatal Schwartz-Jampel syndrome"], "xref": ["GARD:0005045", "MEDGEN:1803541", "MESH:C537502", "OMIM:601559", "Orphanet:3206", "SCTID:254097005", "UMLS:C5676888"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.", "id": "MONDO:0800044", "name": "Congenital disorder of deglycosylation 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CDG1V", "NGLY1 Deficiency", "NGLY1 deficiency", "NGLY1-CDDG", "NGLY1-deficiency", "NGLY1-related congenital disorder of deglycosylation", "congenital disorder of deglycosylation 1", "congenital disorder of glycosylation type IV"], "xref": ["DOID:0060728", "GARD:0012315", "NCIT:C126746", "NORD:1919", "OMIM:615273", "Orphanet:404454", "SCTID:768846004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800045", "name": "Autoinflammatory syndrome, familial, behcet-like 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Behçet-like disease due to HA20", "Behçet-like disease due to haploinsufficiency of A20", "autoinflammatory syndrome, familial, Behcet-like 1", "hereditary paediatric Behçet-like disease", "hereditary pediatric Behçet-like disease"], "xref": ["DOID:0080944", "GARD:0017848", "MEDGEN:898541", "OMIM:616744", "Orphanet:476102", "Orphanet:674762", "UMLS:C4225218"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.", "id": "MONDO:0800046", "name": "Thyroid hormone metabolism, abnormal 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["THMA1", "short stature-delayed bone age due to thyroid hormone metabolism deficiency"], "xref": ["GARD:0017068", "MEDGEN:1801974", "MESH:C566454", "OMIM:609698", "Orphanet:171706", "UMLS:C5676891"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.", "id": "MONDO:0800047", "name": "Macrothrombocytopenia, isolated, 1, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MACTHC1", "TUBB1 autosomal dominant macrothrombocytopenia", "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1", "macrothrombocytopenia, autosomal dominant, TUBB1-related"], "xref": ["DOID:0090102", "GARD:0018271", "MEDGEN:1811721", "MESH:C567747", "OMIM:613112", "UMLS:C5676892"]}
{"category": ["biolink:Disease"], "description": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.", "id": "MONDO:0800063", "name": "Primordial dwarfism and slender bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026426"]}
{"category": ["biolink:Disease"], "description": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.", "id": "MONDO:0800064", "name": "Osteogenesis imperfecta and a reduction of bone mineral density.", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026427", "HP:0004349"]}
{"category": ["biolink:Disease"], "description": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.", "id": "MONDO:0800066", "name": "Polydactyly-syndactyly-triphalangism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026428"]}
{"category": ["biolink:Disease"], "description": "An instance of spondylodysplastic dysplasia that has a high degree of severity.", "id": "MONDO:0800080", "name": "Severe spondylodysplastic dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026429"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800088", "name": "Lysosomal storage disease with skeletal involvement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:otar", "mondo:rare"], "synonym": ["dysostosis multiplex"], "xref": ["GARD:0019203", "ICD9:756.9", "Orphanet:93448", "SCTID:254069004", "SCTID:279081001"]}
{"category": ["biolink:Disease"], "description": "A skeletal dysplasia where osteoid becomes calcified.", "id": "MONDO:0800096", "name": "Abnormal mineralization disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["disorder of bone mineralization"], "xref": ["GARD:0026430"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by heterozygous variants in the SNRNP200 gene.", "id": "MONDO:0800098", "name": "Snrnp200-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SNRNP200-related dominant retinopathy"], "xref": ["GARD:0026431"]}
{"category": ["biolink:Disease"], "description": "A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.", "id": "MONDO:0800099", "name": "Rdh12-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RDH12-related recessive retinopathy"], "xref": ["GARD:0026432"]}
{"category": ["biolink:Disease"], "description": "A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.", "id": "MONDO:0800100", "name": "Rdh12-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RDH12-related dominant retinopathy"], "xref": ["GARD:0026433"]}
{"category": ["biolink:Disease"], "description": "A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.", "id": "MONDO:0800101", "name": "Nmnat1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NMNAT1-related retinopathy"], "xref": ["GARD:0026434"]}
{"category": ["biolink:Disease"], "description": "A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.", "id": "MONDO:0800102", "name": "Cnga3-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CNGA3-related retinopathy"], "xref": ["GARD:0026435"]}
{"category": ["biolink:Disease"], "description": "Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.", "id": "MONDO:0800103", "name": "Coach syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"], "xref": ["GARD:0015153", "MEDGEN:1769861", "OMIM:216360", "UMLS:C5435651"]}
{"category": ["biolink:Disease"], "description": "Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.", "id": "MONDO:0800104", "name": "Immunodeficiency 105", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["IMD105"], "xref": ["DOID:0061074", "GARD:0026436", "MEDGEN:1809425", "OMIM:619924", "UMLS:C5677005"]}
{"category": ["biolink:Disease"], "description": "A psychiatric disorder featuring stupor, posturing, and echophenomena.", "id": "MONDO:0800105", "name": "Catatonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:2904", "MESH:D002389", "UMLS:C0007398", "icd11.foundation:486722075"]}
{"category": ["biolink:Disease"], "description": "A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.", "id": "MONDO:0800106", "name": "Disruptive behavior disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["disruptive disorder"], "xref": ["MEDGEN:41619", "NCIT:C99753", "UMLS:C0012734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800107", "name": "Anterior deviation infundibular septum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:756812", "SCTID:448619007", "UMLS:C3164404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800108", "name": "Cleft leaflet of tricuspid valve", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cleft tricuspid valve"], "xref": ["MEDGEN:576470", "SCTID:60232001", "UMLS:C0344747"]}
{"category": ["biolink:Disease"], "description": "A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.", "id": "MONDO:0800109", "name": "Persistent tachypnoe of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PTI"], "xref": ["GARD:0026437"]}
{"category": ["biolink:Disease"], "description": "Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).", "id": "MONDO:0800110", "name": "Persistent tachypnoe of infancy, aberrant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PTI, aberrant"], "xref": ["GARD:0026438"]}
{"category": ["biolink:Disease"], "description": "Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).", "id": "MONDO:0800111", "name": "Persistent tachypnoe of infancy, usual", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PTI, usual"], "xref": ["GARD:0026439"]}
{"category": ["biolink:Disease"], "description": "A type of vasculitis that is comprised of vasculitides that present with necrosis.", "id": "MONDO:0800113", "name": "Necrotizing vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["systemic vasculitis"], "xref": ["GARD:0005106", "MEDGEN:230813", "NCIT:C70635", "UMLS:C1318520"]}
{"category": ["biolink:Disease"], "description": "A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.", "id": "MONDO:0800114", "name": "Follicular bronchiolits", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026440"]}
{"category": ["biolink:Disease"], "description": "A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).", "id": "MONDO:0800117", "name": "Cutaneous botryomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:640409", "UMLS:C0554463", "icd11.foundation:1888048529"]}
{"category": ["biolink:Disease"], "description": "A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.", "id": "MONDO:0800118", "name": "Visceral botryomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["pulmonary botromycosis"]}
{"category": ["biolink:Disease"], "description": "An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.", "id": "MONDO:0800119", "name": "Postinfectious bronchiolitis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PIBO"], "xref": ["MEDGEN:1840786", "UMLS:C5830150"]}
{"category": ["biolink:Disease"], "description": "A rare lung condition characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.", "id": "MONDO:0800120", "name": "Mac-leod-swyer-james-syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SJS", "Swyer-James-(Macleod)-Syndrome"], "xref": ["GARD:0008324"]}
{"category": ["biolink:Disease"], "description": "An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.", "id": "MONDO:0800121", "name": "Cellular interstitial pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026441"]}
{"category": ["biolink:Disease"], "description": "An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.", "id": "MONDO:0800123", "name": "Bronchiolocentric pattern of interstitial pneumonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BPIP"], "xref": ["GARD:0026442"]}
{"category": ["biolink:Disease"], "description": "A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.", "id": "MONDO:0800124", "name": "Lane hamilton syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026443"]}
{"category": ["biolink:Disease"], "description": "A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.", "id": "MONDO:0800125", "name": "Disseminated visceral giant cell angiitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["disseminated visceral giant cell arteristic", "disseminated visceral giant cell arteritis"], "xref": ["GARD:0026444"]}
{"category": ["biolink:Disease"], "description": "A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.", "id": "MONDO:0800126", "name": "Dystrophic pulmonary ossification", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.", "id": "MONDO:0800127", "name": "Pulmonary amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026445", "MEDGEN:675153", "UMLS:C0700376"]}
{"category": ["biolink:Disease"], "description": "Any combined immunodeficiency due to a deficiency in the POLE2 gene.", "id": "MONDO:0800128", "name": "Combined immunodeficiency due to pole2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026446"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.", "id": "MONDO:0800129", "name": "Autoinflammatory disease, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NEMO deleted exon 5 syndrome", "autoinflammatory syndrome, X-linked"], "xref": ["GARD:0026447", "MEDGEN:1811268", "OMIM:301081", "Orphanet:699605", "UMLS:C5676885"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.", "id": "MONDO:0800130", "name": "Autoinflammatory syndrome with immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026448", "MEDGEN:1784363", "OMIM:619375", "UMLS:C5543547"]}
{"category": ["biolink:Disease"], "description": "An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.", "id": "MONDO:0800131", "name": "Hyper-ige recurrent infection syndrome 4a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026449", "MEDGEN:1809613", "OMIM:619752", "UMLS:C5676920"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.", "id": "MONDO:0800132", "name": "Autoinflammatory-pancytopenia syndrome due to dnase2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1803642", "OMIM:619858", "UMLS:C5676977"]}
{"category": ["biolink:Disease"], "description": "A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.", "id": "MONDO:0800133", "name": "Pulmonary hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026450", "MEDGEN:78574", "NCIT:C99035", "UMLS:C0265783"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency disease caused by a variation in the CRACR2A gene.", "id": "MONDO:0800134", "name": "Primary immunodeficiency due to calcium channel deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.", "id": "MONDO:0800135", "name": "Congenital emphysematous lung disease due to filamin a loss-of-function variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026451"]}
{"category": ["biolink:Disease"], "description": "Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.", "id": "MONDO:0800136", "name": "Non-severe combined immunodeficiency due to copg1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026452"]}
{"category": ["biolink:Disease"], "description": "A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.", "id": "MONDO:0800137", "name": "Early-onset pulmonary and cutaneous vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026453"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.", "id": "MONDO:0800138", "name": "Multisystem autoimmune disease due to ikaros gain of function", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.", "id": "MONDO:0800139", "name": "Helios deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026454", "Orphanet:697389"]}
{"category": ["biolink:Disease"], "description": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.", "id": "MONDO:0800140", "name": "Itpkb deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026455"]}
{"category": ["biolink:Disease"], "description": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.", "id": "MONDO:0800141", "name": "Man2b2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026456"]}
{"category": ["biolink:Disease"], "description": "An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).", "id": "MONDO:0800142", "name": "Chronic mucocutaneous candidiasis and connective tissue disease due to jnk1 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)"]}
{"category": ["biolink:Disease"], "description": "Cytomegalovirus pneumonia due to variant in the NOS2 gene.", "id": "MONDO:0800143", "name": "Cytomegalovirus pneumonia due to nos2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.", "id": "MONDO:0800144", "name": "Autoimmune pulmonary disease due to pd-1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.", "id": "MONDO:0800145", "name": "Non-severe combined immunodeficiency due to polymerase delta deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026457"]}
{"category": ["biolink:Disease"], "description": "Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.", "id": "MONDO:0800146", "name": "Agammaglobulinemia, autosomal recessive, due to bob1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026458"]}
{"category": ["biolink:Disease"], "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.", "id": "MONDO:0800147", "name": "Hemophagocytic lymphohistiocytosis due to rhog deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026459"]}
{"category": ["biolink:Disease"], "description": "Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.", "id": "MONDO:0800148", "name": "Autoinflammatory syndrome due to tbk1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026460"]}
{"category": ["biolink:Disease"], "description": "Any common variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFSF13 gene.", "id": "MONDO:0800149", "name": "Immunodeficiency, common variable, due to april deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026461"]}
{"category": ["biolink:Disease"], "description": "An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.", "id": "MONDO:0800152", "name": "Disorder of galactose and fructose metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026462"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).", "id": "MONDO:0800153", "name": "Urea cycle disorder or inherited hyperammonemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026463"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.", "id": "MONDO:0800154", "name": "Inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026464"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.", "id": "MONDO:0800155", "name": "Inborn disorder of glycine and serine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026465"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.", "id": "MONDO:0800156", "name": "Inborn disorder of ornithine, proline and hydroxyproline metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026466"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.", "id": "MONDO:0800157", "name": "Inborn disorder of lysine, hydroxylysine, and tryptophan metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026467"]}
{"category": ["biolink:Disease"], "description": "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.", "id": "MONDO:0800158", "name": "Inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026468"]}
{"category": ["biolink:Disease"], "description": "An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.", "id": "MONDO:0800159", "name": "Disorder of polyamine metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800166", "name": "Knobloch syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026470", "MEDGEN:336594", "OMIMPS:267750", "UMLS:C1849409", "icd11.foundation:1664056510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800167", "name": "Knobloch syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["KNO1", "KNOBLOCH syndrome 1", "Knobloch syndrome type 1", "Knobloch syndrome, type 1", "Knobloch-Layer syndrome", "retinal detachment-occipital encephalocele syndrome"], "xref": ["GARD:0000380", "ICD9:759.89", "MEDGEN:1642123", "MESH:C537209", "OMIM:267750", "Orphanet:1571", "SCTID:703542000", "UMLS:C4551775"]}
{"category": ["biolink:Disease"], "description": "A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.", "id": "MONDO:0800175", "name": "Cardiogenic shock", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019362", "ICD10CM:R57.0", "MEDGEN:48650", "MedDRA:10007625", "Orphanet:97292", "UMLS:C0036980", "icd11.foundation:1974956233"]}
{"category": ["biolink:Disease"], "description": "Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).", "id": "MONDO:0800176", "name": "Black widow spider envenomation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["black widow envenomation", "latrodectism", "poisoning caused by black widow venom", "poisoning due to black widow spider", "toxic effect of venom of black widow"], "xref": ["SCTID:217666004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800177", "medic_stub": true, "name": "frostbite", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.", "id": "MONDO:0800178", "name": "Platinum-induced ototoxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["deafness, platinum-induced", "platinum-related ototoxicity"]}
{"category": ["biolink:Disease"], "description": "A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.", "id": "MONDO:0800179", "name": "Periprosthetic joint infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin.", "id": "MONDO:0800180", "name": "Cpox-related hereditary coproporphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["CPOX-related hepatic porphyria"], "xref": ["GARD:0026471"]}
{"category": ["biolink:Disease"], "description": "Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.", "id": "MONDO:0800181", "name": "Opa1-related optic atrophy with or without extraocular features", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026472"]}
{"category": ["biolink:Disease"], "description": "Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.", "id": "MONDO:0800182", "name": "Tek-related primary glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026473"]}
{"category": ["biolink:Disease"], "description": "Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.", "id": "MONDO:0800183", "name": "Pax6-related ocular dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800188", "medic_stub": true, "name": "Malignant hyperthermia genetic susceptibility", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800195", "name": "Allgrove syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["AAAS"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800196", "name": "Achromatopsia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["ACHM5"], "xref": ["GARD:0026475", "MEDGEN:416519", "UMLS:C2751309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800198", "name": "Alopecia universalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["AU"], "xref": ["GARD:0026477", "ICD10CM:L63.1", "MEDGEN:120481", "UMLS:C0263505", "icd11.foundation:69070500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800200", "name": "Arthrogryposis, distal, type 2b4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DA2B4"], "xref": ["GARD:0026478", "MEDGEN:1682592", "UMLS:C5193002"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800201", "name": "Baldness, male pattern", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["MPB"], "xref": ["MEDGEN:904995", "UMLS:C4083212"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800204", "name": "Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CDLSMD"], "xref": ["GARD:0026480", "MEDGEN:1674505", "UMLS:C5193004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800206", "name": "Epidermolysis bullosa dystrophica with subcorneal cleavage", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EBDSC"], "xref": ["GARD:0026481", "MEDGEN:436495", "UMLS:C2675683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800207", "name": "Neuropathy, small fiber", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "synonym": ["SFNP"], "xref": ["GARD:0026482", "MEDGEN:478336", "SCTID:709489006", "UMLS:C3276706"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800209", "name": "Fibrosis of extraocular muscles, congenital, 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFEOM3B"], "xref": ["GARD:0026483", "MEDGEN:416468", "UMLS:C2751105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800210", "name": "Glaucoma 1, open angle, l", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GLC1L"], "xref": ["GARD:0026484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800290", "name": "Li-fraumeni-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["LFL"], "xref": ["GARD:0026485", "MEDGEN:382523", "UMLS:C2675080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800291", "name": "Crossed polydactyly, type i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CP1"], "xref": ["GARD:0001616", "MEDGEN:357421", "UMLS:C1868112"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800296", "name": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRCS2"], "xref": ["MEDGEN:1763512", "UMLS:C5435648"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800298", "name": "Peroxisome biogenesis disorder, complementation group 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CG2"], "xref": ["GARD:0026486", "MEDGEN:763188", "UMLS:C3550274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800299", "name": "Myopathy, congenital, with excess of muscle spindles", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CMEMS"], "xref": ["MEDGEN:369344", "UMLS:C1968782"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800300", "name": "Black locks with albinism and deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BADS"], "xref": ["MEDGEN:82812", "UMLS:C0268501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800301", "name": "Friedreich ataxia with retained reflexes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FARR"], "xref": ["GARD:0026487", "MEDGEN:376121", "UMLS:C1847416"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800302", "name": "Glycogen storage disease id", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["GSD1D"], "xref": ["GARD:0026488", "MEDGEN:87456", "UMLS:C0342750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800304", "name": "Neuropathy, hereditary sensory and autonomic, type iid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HSAN2D"], "xref": ["GARD:0026489", "MEDGEN:860491", "UMLS:C4012054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800305", "name": "Myelofibrosis with myeloid metaplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MMM"], "xref": ["GARD:0026490", "icd11.foundation:673220507"]}
{"category": ["biolink:Disease"], "description": "Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.", "id": "MONDO:0800306", "name": "Myoclonic epilepsy of lafora 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EPM2B", "Lafora disease 2", "MELF2", "epilepsy, progressive myoclonic, 2B", "myoclonic epilepsy of Lafora 2"], "xref": ["DOID:0061211", "GARD:0026491", "MEDGEN:340621", "OMIM:620681", "UMLS:C1850764"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800307", "name": "De la chapelle dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DLCD"], "xref": ["GARD:0026492", "MEDGEN:342529", "UMLS:C1850555", "icd11.foundation:248590292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800308", "name": "Orotic aciduria without megaloblastic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OAWA"], "xref": ["GARD:0026493", "MEDGEN:480252", "UMLS:C3278622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800310", "name": "Pregnancy loss, recurrent, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_mondo"], "synonym": ["RPRGL4"], "xref": ["MEDGEN:481067", "UMLS:C3279437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800311", "name": "Vas deferens, congenital unilateral aplasia of", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CUAVD"], "xref": ["GARD:0026494", "MEDGEN:1712847", "UMLS:C5393224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800312", "name": "Wooly hair, autosomal recessive 1, with or without hypotrichosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARWH1"], "xref": ["GARD:0026495", "MEDGEN:341227", "UMLS:C1848435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800313", "name": "Xeroderma pigmentosum, type f/cockayne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["XPF/CS"], "xref": ["GARD:0026496", "MEDGEN:812895", "UMLS:C3806565"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800314", "name": "Xeroderma pigmentosum, type g/cockayne syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["XPG/CS"], "xref": ["GARD:0026497", "MEDGEN:409618", "UMLS:C1968561"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800317", "name": "Premature ovarian failure 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["POF4"], "xref": ["GARD:0026498", "MEDGEN:336904", "UMLS:C1845295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800318", "name": "Emery-dreifuss muscular dystrophy 6, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EDMD6"], "xref": ["GARD:0026499", "MEDGEN:440709", "UMLS:C2749106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800319", "name": "Cone dystrophy 5, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["COD5"], "xref": ["MEDGEN:854645", "UMLS:C3887937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800320", "name": "Cone dystrophy 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["COD1"], "xref": ["MEDGEN:336778", "UMLS:C1844777"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800321", "name": "Congenital heart defects, multiple types, 1, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CHTD1"], "xref": ["GARD:0026500", "MEDGEN:463217", "UMLS:C3151867"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800322", "name": "Membranous obstruction of inferior vena cava", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MOVC"], "xref": ["MEDGEN:107472", "UMLS:C0546323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800323", "name": "Long qt syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LQT4"], "xref": ["GARD:0026501", "MEDGEN:331449", "UMLS:C1833154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800324", "name": "Microphthalmia, isolated, with coloboma 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MCOPCB8"], "xref": ["GARD:0026502", "MEDGEN:761921", "UMLS:C3540845"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800326", "name": "Cone-rod dystrophy 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CORD14"], "xref": ["GARD:0026503"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800328", "name": "Retinitis pigmentosa 94, variable age at onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RP94"], "xref": ["GARD:0026504", "MEDGEN:1805655", "UMLS:C5676889"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800329", "name": "Febrile seizures, familial, 3a", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB3A"], "xref": ["MEDGEN:442807", "UMLS:C2751756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800330", "name": "Myoclonic epilepsy, juvenile, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EJM2"], "xref": ["GARD:0026505", "MEDGEN:854640", "UMLS:C3887932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800331", "name": "Hyperglycinemia, transient neonatal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TNH"], "xref": ["GARD:0026506", "MEDGEN:82818", "UMLS:C0268560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800335", "name": "Migraine, familial hemiplegic, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FHM4"], "xref": ["GARD:0026507", "MEDGEN:334830", "UMLS:C1843766"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800337", "name": "Acute tubulointerstitial nephritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ATIN"], "xref": ["MEDGEN:334716", "UMLS:C1843274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800339", "name": "Laryngospasm, severe neonatal episodic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SNEL"], "xref": ["GARD:0026508", "MEDGEN:460867", "UMLS:C3149517"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800341", "name": "Congenital myopathy 4a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CAPM1", "CFTD", "CFTDM", "NEM1", "cap myopathy 1", "fiber-type disproportion myopathy, congenital", "myopathy, congenital, with fiber-type disproportion", "nemaline myopathy 1"], "xref": ["GARD:0026509", "OMIM:255310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800344", "name": "Brachydactyly-syndactyly-oligodactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BDSDO"], "xref": ["MEDGEN:934774", "UMLS:C4310807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800345", "name": "Atrial fibrillation, familial, 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATFB17"], "xref": ["GARD:0026510", "MEDGEN:861997", "UMLS:C4013560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800346", "name": "Left ventricular noncompaction 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LVNC9"], "xref": ["GARD:0026511", "MEDGEN:814475", "UMLS:C3808145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800347", "name": "Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CMH23"], "xref": ["GARD:0026512", "MEDGEN:897129", "UMLS:C4225649"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800348", "name": "Retinitis pigmentosa 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RP53"], "xref": ["GARD:0026513", "MEDGEN:461558", "UMLS:C3150208"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800349", "name": "Atrial fibrillation, familial, 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ATFB16"], "xref": ["GARD:0026514", "MEDGEN:862136", "UMLS:C4013699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800350", "name": "Left ventricular noncompaction 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LVNC4"], "xref": ["GARD:0026515", "MEDGEN:462032", "UMLS:C3150682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800351", "name": "Left ventricular noncompaction 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LVNC5"], "xref": ["GARD:0026516", "MEDGEN:462040", "UMLS:C3150690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800352", "name": "Retinitis pigmentosa 65", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP65"], "xref": ["GARD:0026517", "MEDGEN:765766", "UMLS:C3552852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800353", "name": "Congenital disorder of glycosylation, type ibb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDG1BB"], "xref": ["GARD:0026518", "MEDGEN:1637983", "UMLS:C4693133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800354", "name": "Febrile seizures, familial, 3b", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["FEB3B"], "xref": ["MEDGEN:462579", "UMLS:C3151229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800355", "name": "Parasomnia, sleep terrors type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PSMNST"], "xref": ["MEDGEN:462714", "UMLS:C3151364"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800356", "name": "Short-rib thoracic dysplasia 7/20 with polydactyly, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["SRTD7/20"], "xref": ["GARD:0026519", "MEDGEN:1662086", "UMLS:C4747658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800357", "name": "Hyperpigmentation, progressive cribriform and zosteriform", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PCZH"], "xref": ["GARD:0026520", "MEDGEN:75526", "UMLS:C0263579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800358", "name": "Schizophrenia 17", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "synonym": ["SCZD17"], "xref": ["MEDGEN:482154", "OMIM:621407", "UMLS:C3280524"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800359", "name": "Retinitis pigmentosa 64", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["RP64"], "xref": ["GARD:0026521", "MEDGEN:482676", "UMLS:C3281046"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800363", "name": "Joubert syndrome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["JBTS19"], "xref": ["GARD:0026522", "MEDGEN:766760", "UMLS:C3553846"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800364", "name": "Peroxisome biogenesis disorder, complementation group 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CG3"], "xref": ["GARD:0026523", "MEDGEN:356508", "UMLS:C1866340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800365", "name": "Peroxisome biogenesis disorder, complementation group k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:otar", "mondo:rare"], "synonym": ["CGK"], "xref": ["GARD:0026524", "MEDGEN:356487", "UMLS:C1866257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800366", "name": "Dyskeratosis congenita, autosomal dominant 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["DOID:0070020", "GARD:0026525", "MEDGEN:815132", "UMLS:C3808802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800367", "name": "Cardiomyopathy, dilated, 1ll", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1LL"], "xref": ["GARD:0026526", "MEDGEN:815619", "UMLS:C3809289"]}
{"category": ["biolink:Disease"], "description": "A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.", "id": "MONDO:0800368", "name": "Cardiomyopathy, dilated, 1mm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["CMD1MM"], "xref": ["DOID:0081158", "GARD:0026527", "MEDGEN:815676", "UMLS:C3809346"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800369", "name": "Parkinson disease 19b, early-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "synonym": ["PARK19B"], "xref": ["GARD:0026528", "MEDGEN:934769", "UMLS:C4310802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800370", "name": "Dyskeratosis congenita, autosomal recessive 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["DKCB7"], "xref": ["GARD:0026529", "MEDGEN:903803", "UMLS:C4225283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800371", "name": "Cardiomyopathy, familial restrictive, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RCM5"], "xref": ["GARD:0026530", "MEDGEN:934715", "UMLS:C4310748"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800372", "name": "Joubert syndrome 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS29"], "xref": ["DOID:0080276", "GARD:0026531", "MEDGEN:1625238", "UMLS:C4539715"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to carbon monoxide.", "id": "MONDO:0800373", "name": "Carbon monoxide poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "synonym": ["CO Poisoning"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800374", "name": "Ventricular tachycardia, catecholaminergic polymorphic 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CPVT6"], "xref": ["GARD:0026532", "MEDGEN:1712279", "UMLS:C5394069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800375", "name": "Developmental delay, epilepsy, and neonatal diabetes 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEND1"], "xref": ["GARD:0026533", "MEDGEN:1709191", "UMLS:C5394597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800376", "name": "Developmental delay, epilepsy, and neonatal diabetes 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["DEND2"], "xref": ["GARD:0026534", "MEDGEN:1712655", "UMLS:C5394304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800377", "name": "Acth-independent adrenal cushing syndrome, somatic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800378", "name": "17,20-lyase deficiency, isolated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0028052", "MEDGEN:479479", "Orphanet:90796", "UMLS:C3277849"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800379", "name": "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800380", "name": "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:865627", "UMLS:C4017190"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800381", "name": "46,xx true hermaphroditism, sry-positive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800382", "name": "Joubert syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["JBTS11"], "xref": ["GARD:0026537", "MEDGEN:480833", "UMLS:C3279203"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800383", "name": "Joubert syndrome 34", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "synonym": ["JBTS34"], "xref": ["GARD:0026538", "MEDGEN:1612206", "UMLS:C4539386"]}
{"category": ["biolink:Disease"], "description": "A heavy metal poisoning that is caused by exposure to cesium.", "id": "MONDO:0800384", "name": "Cesium poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.", "id": "MONDO:0800385", "name": "Iron poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["iron overload", "iron toxicity"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to organophosphate.", "id": "MONDO:0800386", "name": "Organophosphate poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["insecticide poisoning", "organophosphate exposure"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.", "id": "MONDO:0800387", "name": "Sulfur mustard poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mustard agent poisoning", "mustard gas poisoning"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to cardiac glycoside.", "id": "MONDO:0800388", "name": "Cardiac glycoside intoxication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiac glycoside poisoning"]}
{"category": ["biolink:Disease"], "description": "A poisoning that is caused by exposure to monochloroacetic acid.", "id": "MONDO:0800389", "name": "Monochloroacetic acid poisoning", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Toxicities following administration of chemotherapeutic agents", "id": "MONDO:0800390", "name": "Chemotherapy-induced toxicity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the EYS gene.", "id": "MONDO:0800391", "name": "Eys-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026541"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.", "id": "MONDO:0800392", "name": "Gnat2-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026542"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.", "id": "MONDO:0800393", "name": "Idh3b-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026543"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the MERTK gene.", "id": "MONDO:0800394", "name": "Mertk-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026544"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by variants in the PRPF31 gene.", "id": "MONDO:0800395", "name": "Prpf31-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026545"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.", "id": "MONDO:0800396", "name": "Gpr179-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026546"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.", "id": "MONDO:0800397", "name": "Grm6-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026547"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.", "id": "MONDO:0800398", "name": "Adam9-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026548"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant retinopathy caused by variants in the RP1 gene.", "id": "MONDO:0800399", "name": "Rp1-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026549"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the RP1 gene.", "id": "MONDO:0800400", "name": "Rp1-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026550"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the CERKL gene.", "id": "MONDO:0800401", "name": "Cerkl-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026551"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.", "id": "MONDO:0800402", "name": "Trpm1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026552"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.", "id": "MONDO:0800403", "name": "Cngb1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026553"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the PCARE gene.", "id": "MONDO:0800404", "name": "Pcare-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026554"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.", "id": "MONDO:0800405", "name": "Cnga1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026555"]}
{"category": ["biolink:Disease"], "description": "An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.", "id": "MONDO:0800406", "name": "Abca4-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026556"]}
{"category": ["biolink:Disease"], "description": "An X-linked retinopathy caused by variants in the NYX gene.", "id": "MONDO:0800407", "name": "Nyx-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800408", "name": "Urogenital adysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:436071", "UMLS:C2674045"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800412", "name": "Yakut short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800418", "name": "Breast cancer, familial, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028053"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800419", "name": "Breast cancer, familial, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028054"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800420", "name": "Breast cancer, familial, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028055", "MEDGEN:462010", "UMLS:C3150660"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800423", "name": "Colorectal cancer, susceptibility to, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["CRCS4"], "xref": ["GARD:0028056", "MEDGEN:394248", "UMLS:C2677290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800424", "name": "Colorectal cancer, susceptibility to, on chromosome 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028057", "MEDGEN:394249", "UMLS:C2677291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800433", "name": "Ovarian cancer, familial, susceptibility to, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028058", "MEDGEN:393561", "UMLS:C2676678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800434", "name": "Ovarian cancer, familial, susceptibility to, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028059", "MEDGEN:382627", "UMLS:C2675522"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800435", "name": "Ovarian cancer, familial, susceptibility to, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["GARD:0028060", "MEDGEN:462011", "UMLS:C3150661"]}
{"category": ["biolink:Disease"], "description": "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.", "id": "MONDO:0800436", "name": "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CFSMR1", "cerebrofaciothoracic dysplasia", "pascual-Castroviejo syndrome type 1"], "xref": ["DOID:0081124", "GARD:0001210", "MEDGEN:1808104", "MESH:C565862", "OMIM:213980", "Orphanet:1394", "SCTID:720635002", "UMLS:C5677021"]}
{"category": ["biolink:Disease"], "description": "A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.", "id": "MONDO:0800437", "name": "Carey-fineman-ziter syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_malformation_syndrome", "mondo:rare"], "synonym": ["CFZS1", "Carey-Fineman-Ziter syndrome 1", "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence", "myopathy-Moebius-Robin syndrome"], "xref": ["DOID:0061115", "DOID:0080194", "GARD:0026558", "ICD9:359.89", "MEDGEN:1804638", "MESH:C536102", "OMIM:254940", "SCTID:429753001", "UMLS:C5676876"]}
{"category": ["biolink:Disease"], "description": "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.", "id": "MONDO:0800438", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["DEDSSH1", "developmental delay with short stature, dysmorphic features, and sparse hair 1", "diphtamide deficiency syndrome"], "xref": ["DOID:0070477", "GARD:0017814", "OMIM:616901", "Orphanet:459061"]}
{"category": ["biolink:Disease"], "description": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.", "id": "MONDO:0800439", "name": "Syndromic complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027071"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.", "id": "MONDO:0800440", "name": "Hand1 related congenital heart defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HAND1-related congenital heart defect"]}
{"category": ["biolink:Disease"], "description": "A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.", "id": "MONDO:0800441", "name": "Nkx2.5-related congenital, conduction and myopathic heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NKX2-5-related congenital, conduction and myopathic heart disease"], "xref": ["GARD:0026559"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.", "id": "MONDO:0800442", "name": "Myh-6 related congenital heart defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MYH6 related congenital heart defects"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.", "id": "MONDO:0800443", "name": "Deaf1-associated neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800444", "name": "Birt-hogg-dube syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BHD"], "xref": ["GARD:0028061", "MEDGEN:91070", "OMIMPS:135150", "UMLS:C0346010"]}
{"category": ["biolink:Disease"], "description": "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.", "id": "MONDO:0800445", "name": "Birt-hogg-dube syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:ordo_malformation_syndrome", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Hornstein-Knickenberg syndrome", "fibrofolliculomas with trichodiscomas and acrochordons"], "xref": ["DOID:0050676", "GARD:0002322", "ICD9:704.8", "MESH:D058249", "MedDRA:10067736", "NCIT:C28244", "OMIM:135150", "Orphanet:122", "SCTID:110985001"]}
{"category": ["biolink:Disease"], "description": "A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).", "id": "MONDO:0800446", "name": "Bleeding diathesis due to thromboxane synthesis deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0017132", "MEDGEN:1678745", "Orphanet:220443", "UMLS:C5190857", "icd11.foundation:1676860885"]}
{"category": ["biolink:Disease"], "description": "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect.", "id": "MONDO:0800448", "name": "Leukoencephalopathy with vanishing white matter", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["childhood ataxia with diffuse central nervous system hypomyelination", "leukoencephalopathy with vanishing white matter", "myelinosis centralis diffusa"], "xref": ["DOID:0060868", "GARD:0000231", "MEDGEN:347037", "NCIT:C122664", "OMIMPS:603896", "Orphanet:135", "SCTID:447351004", "UMLS:C1858991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800449", "name": "Lysosomal acid lipase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LAL deficiency"], "xref": ["DOID:0080217", "GARD:0012097", "MEDGEN:1807768", "MESH:C531854", "OMIMPS:278000", "Orphanet:275761", "SCTID:715923003", "UMLS:C5574740", "icd11.foundation:381622932"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800450", "name": "Microcephaly, short stature, and impaired glucose metabolism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:616033"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800451", "name": "Congenital amegakaryocytic thrombocytopenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["congenital amegakaryocytic thrombocytopenia"], "xref": ["GARD:0026560", "MEDGEN:272171", "OMIMPS:604498", "UMLS:C1327915", "icd11.foundation:801723173"]}
{"category": ["biolink:Disease"], "description": "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.", "id": "MONDO:0800452", "name": "Congenital amegakaryocytic thrombocytopenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CAMT1", "amegakaryocytic thrombocytopenia, congenital 1", "thrombocytopenia, congenital amegakaryocytic"], "xref": ["DOID:0061005", "DOID:0090118", "GARD:0000640", "MEDGEN:1845022", "MESH:C535982", "NCIT:C115207", "OMIM:604498", "Orphanet:3319", "SCTID:716336002", "UMLS:C5882667"]}
{"category": ["biolink:Disease"], "description": "A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.", "id": "MONDO:0800453", "name": "Juvenile absence epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["JAE"], "xref": ["DOID:0060172", "GARD:0002162", "MEDGEN:1388059", "NCIT:C129868", "Orphanet:1941", "SCTID:230413002", "UMLS:C4317339", "icd11.foundation:519416529"]}
{"category": ["biolink:Disease"], "description": "Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.", "id": "MONDO:0800455", "name": "Birt-hogg-dube syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BHD2"], "xref": ["GARD:0028062", "MEDGEN:1841312", "OMIM:620459", "UMLS:C5830676"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.", "id": "MONDO:0800456", "name": "Syncrip-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.", "id": "MONDO:0800457", "name": "Hnrnpc-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.", "id": "MONDO:0800458", "name": "Nr2f2 related multiple congenital anomalies/dysmorphic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARP1-related multiple congenital anomalies/dysmorphic syndrome", "COUPTFII-related multiple congenital anomalies/dysmorphic syndrome", "NR2F2 related multiple congenital anomalies/dysmorphic syndrome", "TCOUP2-related multiple congenital anomalies/dysmorphic syndrome"], "xref": ["GARD:0026561"]}
{"category": ["biolink:Disease"], "description": "Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).", "id": "MONDO:0800459", "name": "Noxacusis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["auditory nociception", "noise-induced pain", "noxacusis", "pain hyperacusis"], "xref": ["GARD:0028063"]}
{"category": ["biolink:Disease"], "description": "The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).", "id": "MONDO:0800461", "name": "Col4a1-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["COL4A1-related disorders"], "xref": ["GARD:0028064"]}
{"category": ["biolink:Disease"], "description": "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.", "id": "MONDO:0800462", "name": "Fhl1-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FHL1-related myopathy"], "xref": ["GARD:0026563"]}
{"category": ["biolink:Disease"], "description": "A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.", "id": "MONDO:0800463", "name": "Kif7-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KIF7-related ciliopathy"], "xref": ["GARD:0026564"]}
{"category": ["biolink:Disease"], "description": "A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.", "id": "MONDO:0800464", "name": "Sqstm1-related multisystem proteinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SQSTM1-related multisystem proteinopathy"], "xref": ["GARD:0026565"]}
{"category": ["biolink:Disease"], "description": "Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.", "id": "MONDO:0800465", "name": "Ctsc-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CTSC-related disorder"], "xref": ["GARD:0026566"]}
{"category": ["biolink:Disease"], "description": "Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).", "id": "MONDO:0800466", "name": "Disorder of gnas inactivation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028065"]}
{"category": ["biolink:Disease"], "description": "A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.", "id": "MONDO:0800467", "name": "Dyskeratosis congenita and related telomere biology disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["dyskeratosis congenita and related telomere biology disorder"], "xref": ["GARD:0026567"]}
{"category": ["biolink:Disease"], "description": "Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.", "id": "MONDO:0800468", "name": "Scn4a-related channelopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SCN4A-related channelopathy"], "xref": ["GARD:0026568"]}
{"category": ["biolink:Disease"], "description": "A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.", "id": "MONDO:0800469", "name": "Acd-related telomere biology disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACD-related telomeropathy"], "xref": ["GARD:0026569"]}
{"category": ["biolink:Disease"], "description": "Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.", "id": "MONDO:0800470", "name": "Tubb4a-related neurologic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026570"]}
{"category": ["biolink:Disease"], "description": "Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.", "id": "MONDO:0800472", "name": "Cyp1b1-related glaucoma with or without anterior segment dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026571"]}
{"category": ["biolink:Disease"], "description": "An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.", "id": "MONDO:0800474", "name": "Sox3-related x-linked pituitary hormone deficiency with or without intellectual developmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.", "id": "MONDO:0800475", "name": "Nacc1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"], "xref": ["GARD:0027073"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.", "id": "MONDO:0800476", "name": "Hand2 related congenital heart defect", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DHAND", "DHAND2", "HAND2 related congenital heart defect", "HAND2-related congenital heart defect", "HLH transcription factor HAND2", "Hed", "Thing2", "bHLHa26"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.", "id": "MONDO:0800477", "name": "Setd2-related neurodevelopmental disorder without or with macrocephaly/overgrowth", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome.", "id": "MONDO:0800478", "name": "Trigeminal trophic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["TTS"], "xref": ["GARD:0027074", "MEDGEN:698241", "Orphanet:664901", "UMLS:C1274928", "icd11.foundation:983392135"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.", "id": "MONDO:0800479", "name": "Self-limited neonatal seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SeLNE"], "xref": ["GARD:0026572"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).", "id": "MONDO:0800480", "name": "Non-verbal learning disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["non-verbal learning disorder"], "xref": ["MEDGEN:752350", "UMLS:C2732653"]}
{"category": ["biolink:Disease"], "description": "A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.", "id": "MONDO:0800481", "name": "Oral fibroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1843431", "UMLS:C0948118"]}
{"category": ["biolink:Disease"], "id": "MONDO:0800482", "medic_stub": true, "name": "head injury", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.", "id": "MONDO:0800483", "name": "Sf3b4-related acrofacial dysostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SF3B4-related acrofacial dysostosis"], "xref": ["GARD:0026574"]}
{"category": ["biolink:Disease"], "description": "A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.", "id": "MONDO:0800484", "name": "Prkag2-related cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PRKAG2 cardiac syndrome", "PRKAG2 cardiomyopathy", "PRKAG2 syndrome", "PRKAG2-related cardiomyopathy"], "xref": ["GARD:0026575"]}
{"category": ["biolink:Disease"], "description": "Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.", "id": "MONDO:0800485", "name": "Akt3-related overgrowth spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026576"]}
{"category": ["biolink:Disease"], "description": "A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.", "id": "MONDO:0800486", "name": "Metabolic bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:2699", "NCIT:C97045", "UMLS:C0005944"]}
{"category": ["biolink:Disease"], "description": "Any idiopathic generalized epilepsy syndrome that has a variable-age onset.", "id": "MONDO:0800487", "name": "Variable-age onset idiopathic generalized epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027390"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age.", "id": "MONDO:0800488", "name": "Neonatal/infantile-onset self-limited epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027296"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these.", "id": "MONDO:0800489", "name": "Genetic epilepsy with febrile seizures plus spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GEFS+"], "xref": ["GARD:0027297"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.", "id": "MONDO:0800490", "name": "Neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NIE-SDE"], "xref": ["GARD:0027298"]}
{"category": ["biolink:Disease"], "description": "A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. In up to 80% of patients, EIDEE is caused by an underlying structural, genetic, or metabolic reason.", "id": "MONDO:0800491", "name": "Early-infantile dee", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_clinical_syndrome", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EIDEE", "EIEE", "EME", "Ohtahara syndrome", "early infantile epileptic encephalopathy", "early infantile epileptic encephalopathy with suppression-bursts", "early myoclonic encephalopathy", "early myoclonic encephalopathy with suppression-bursts", "early-infantile developmental and epileptic encephalopathy syndrome", "epileptic encephalopathy, early infantile", "epileptic encephalopathy, infantile", "infantile epileptic encephalopathy"], "xref": ["DOID:0050709", "DOID:2481", "DOID:308", "GARD:0027299", "ICD9:345.6", "MEDGEN:97959", "MedDRA:10071545", "NCIT:C116593", "Orphanet:1934", "Orphanet:1935", "SCTID:230429005", "SCTID:44423001", "UMLS:C0393706", "icd11.foundation:1877241469"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome characterized by focal seizures where age at seizure onset varies.", "id": "MONDO:0800492", "name": "Variable-age onset focal epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["VAOFAS"], "xref": ["GARD:0027391"]}
{"category": ["biolink:Disease"], "description": "A focal epilepsy syndrome where the age at onset is typically in adolescence or adulthood. Affected individuals have focal aware seizures with mesial temporal lobe features, especially prominent déjà vu. Most patients have a normal MRI, and seizures respond to treatment. A subgroup is recognised that have antecedent febrile seizures, hippocampal atrophy, and drug resistant seizures. Direct questioning of relatives may be required to identify this familial epilepsy syndrome, as many individuals consider their déjà vu experiences as mild and they may not have been diagnosed as seizures.", "id": "MONDO:0800493", "name": "Familial mesial temporal lobe epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["FMTLE"], "xref": ["GARD:0027392", "Orphanet:163717"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome characterized by a combined generalized and focal epilepsy syndromes where age at seizure onset varies.", "id": "MONDO:0800494", "name": "Variable-age onset combined generalized and focal epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027393"]}
{"category": ["biolink:Disease"], "description": "An epilepsy syndrome characterized by seizures along with developmental and/or epileptic encephalopathy or progressive neurological deterioration where age at seizure onset varies.", "id": "MONDO:0800495", "name": "Variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["VAE-SDE/PND"], "xref": ["GARD:0027300"]}
{"category": ["biolink:Disease"], "description": "A variable-age onset focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance.", "id": "MONDO:0800496", "name": "Epilepsy with auditory features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EAF"], "xref": ["GARD:0027394", "MEDGEN:1871199", "UMLS:C5967406"]}
{"category": ["biolink:Disease"], "description": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA2 gene.", "id": "MONDO:0800497", "name": "Interstitial lung disease 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "synonym": ["fibrocystic pulmonary dysplasia", "fibrosing alveolitis, cryptogenic", "idiopathic pulmonary fibrosis, familial", "interstitial pneumonitis, usual", "pulmonary fibrosis, idiopathic"], "xref": ["DOID:0060971", "GARD:0028066", "MEDGEN:1794136", "OMIM:178500", "UMLS:C5561926"]}
{"category": ["biolink:Disease"], "description": "A genetic generalized epilepsy that has an onset during childhood.", "id": "MONDO:0800498", "name": "Childhood-onset genetic generalized epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027301"]}
{"category": ["biolink:Disease"], "description": "An idiopathic generalized epilepsy that has an onset during childhood.", "id": "MONDO:0800499", "name": "Childhood-onset idiopathic generalized epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027302"]}
{"category": ["biolink:Disease"], "description": "A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition.", "id": "MONDO:0800500", "name": "Childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027303"]}
{"category": ["biolink:Disease"], "description": "A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy).", "id": "MONDO:0800501", "name": "Developmental and/or epileptic encephalopathy with spike-wave activation in sleep", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CSWS", "CSWSS syndrome", "DEE-SWAS", "EE-SWAS", "EESWAS", "ESES with language regression", "LK syndrome", "LKS", "continuous slow spike and wave of sleep", "continuous spike-wave during slow sleep syndrome", "continuous spike-wave in sleep", "continuous spikes and waves during sleep", "continuous spikes and waves during slow-wave sleep", "developmental and epileptic encephalopathy with spike-wave activation in sleep", "electrical status epilepticus of sleep", "electrographic status epilepticus in sleep", "electrographic status epilepticus of sleep", "epileptic aphasia", "epileptic encephalopathy with continuous spike-and-wave during slow sleep", "epileptic encephalopathy with spike and wave activation in sleep", "epileptic encephalopathy with spike-and-wave activation in sleep", "eses index"], "xref": ["GARD:0027304", "MEDGEN:1790601", "Orphanet:725", "UMLS:C5552731"]}
{"category": ["biolink:Disease"], "description": "A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group.", "id": "MONDO:0800502", "name": "Childhood-onset self-limited focal epilepsy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood-onset SeLFE"], "xref": ["GARD:0027305"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities.", "id": "MONDO:0800503", "name": "Tmem63b-related developmental and epileptic encephalopathy with anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TMEM63B-related DEE with anaemia", "TMEM63B-related DEE with anemia", "TMEM63B-related developmental and epileptic encephalopathy with anaemia"], "xref": ["GARD:0027306"]}
{"category": ["biolink:Disease"], "description": "An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.", "id": "MONDO:0800504", "name": "Idiopathic pulmonary fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IPF"], "xref": ["DOID:0050156", "GARD:0028067", "ICD10CM:J84.112", "MEDGEN:321462", "MESH:D054990", "NCIT:C35716", "Orphanet:2032", "UMLS:C1800706", "icd11.foundation:1074069640"]}
{"category": ["biolink:Disease"], "description": "An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.", "id": "MONDO:0810000", "name": "Choroidal neovascularization", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["HP:0011506", "MEDGEN:154726", "MESH:D020256", "UMLS:C0600518"]}
{"category": ["biolink:Disease"], "description": "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.", "id": "MONDO:0850001", "name": "Congenital neuronal ceroid lipofuscinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0017031", "MEDGEN:351189", "Orphanet:168486", "UMLS:C1864670", "icd11.foundation:641209188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850007", "name": "Syndromic lacrimal system disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022083", "MEDGEN:1842875", "Orphanet:519274", "UMLS:C5681383"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850008", "name": "Anterior segment developmental abnormality with extraocular manifestations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022084", "MEDGEN:1842782", "Orphanet:519276", "UMLS:C5681394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850009", "name": "Syndromic microspherophakia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022093", "MEDGEN:1842434", "Orphanet:519294", "UMLS:C5681371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850010", "name": "Congenital optic disk excavation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022112", "MEDGEN:1842935", "Orphanet:519333", "UMLS:C5681348"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850013", "name": "Twin anemia-polycythemia sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022445", "MEDGEN:1843357", "Orphanet:617294", "UMLS:C5576360"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850014", "name": "Twin-reversed arterial perfusion sequence", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022446", "MEDGEN:1842726", "Orphanet:617297", "UMLS:C5575500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850015", "name": "Selective intrauterine growth restriction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022447", "MEDGEN:1842731", "Orphanet:617301", "UMLS:C5681824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850030", "name": "Complete hemimelia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022033", "MEDGEN:1863414", "Orphanet:498491", "UMLS:C5925041"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850046", "name": "Amniotic fluid embolism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022448", "MEDGEN:8586", "Orphanet:617304", "UMLS:C0013927", "icd11.foundation:1017418792"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850048", "name": "Classic eosinophilic pustular folliculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022452", "Orphanet:617408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850049", "name": "Painful legs and moving toes syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0012706", "MEDGEN:1842291", "Orphanet:617440", "UMLS:C5680388"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850050", "name": "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022453", "MEDGEN:1842244", "Orphanet:617449", "UMLS:C5681820"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850053", "name": "F12-associated cold autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022454", "MEDGEN:1843368", "Orphanet:617919", "UMLS:C5681829"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850054", "name": "Hemophilia b leyden", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0022455", "MEDGEN:1845499", "Orphanet:617930", "UMLS:C5848256"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850058", "name": "Chronic neurovisceral acid sphingomyelinase deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022456", "ICD10CM:E75.244", "MEDGEN:1842316", "Orphanet:618891", "UMLS:C5539139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850059", "name": "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022458", "Orphanet:619233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850064", "name": "Inherited hematologic cancer-predisposing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0022461", "MEDGEN:1842853", "Orphanet:619340", "UMLS:C5681832"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850065", "name": "Neonatal-onset severe multisystemic autoinflammatory disease with increased il18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022462", "MEDGEN:1863412", "Orphanet:619363", "UMLS:C5925147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850066", "name": "Samd9l-associated autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022463", "MEDGEN:1842521", "Orphanet:619367", "UMLS:C5680414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850067", "name": "Immune deficiency due to impaired neutrophil phagocytosis and migration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022464", "MEDGEN:1843340", "Orphanet:619941", "UMLS:C5680413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850068", "name": "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022465", "MEDGEN:1842754", "Orphanet:619948", "UMLS:C5680416"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850069", "name": "Familial hyperinflammatory lymphoproliferative immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022466", "MEDGEN:1842618", "Orphanet:619953", "UMLS:C5680415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850070", "name": "Cadins disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022467", "MEDGEN:1842902", "Orphanet:619972", "UMLS:C5680417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850071", "name": "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022468", "MEDGEN:1842938", "Orphanet:619979", "UMLS:C5681830"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850072", "name": "Non-syndromic unisutural craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022469", "MEDGEN:1843281", "Orphanet:620096", "UMLS:C5680403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850073", "name": "Non-syndromic unicoronal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022470", "MEDGEN:1842408", "Orphanet:620102", "UMLS:C5680401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850074", "name": "Non-syndromic unilambdoid craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022471", "MEDGEN:1842908", "Orphanet:620113", "UMLS:C5680402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850075", "name": "Non-syndromic unifrontosphenoidal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022472", "MEDGEN:1843063", "Orphanet:620139", "UMLS:C5680399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850076", "name": "Non-syndromic unisquamosal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022473", "MEDGEN:1843002", "Orphanet:620146", "UMLS:C5680400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850077", "name": "Non-syndromic multisutural craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022474", "MEDGEN:1843294", "Orphanet:620152", "UMLS:C5680397"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850078", "name": "Non-syndromic non-specific multisutural craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022475", "MEDGEN:1842261", "Orphanet:620158", "UMLS:C5680398"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850079", "name": "Non-syndromic bilambdoid craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022476", "MEDGEN:1842897", "Orphanet:620178", "UMLS:C5680395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850080", "name": "Non-syndromic unicoronal and sagittal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022477", "MEDGEN:1842804", "Orphanet:620186", "UMLS:C5680396"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850081", "name": "Non-syndromic metopic and sagittal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022478", "MEDGEN:1842791", "Orphanet:620192", "UMLS:C5680393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850082", "name": "Non-syndromic bicoronal and metopic craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022479", "MEDGEN:1843005", "Orphanet:620198", "UMLS:C5680394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850083", "name": "Non-syndromic bicoronal and sagittal craniosynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022480", "MEDGEN:1842401", "Orphanet:620205", "UMLS:C5680391"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850084", "name": "Non-syndromic pansynostosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022481", "MEDGEN:1843220", "Orphanet:620212", "UMLS:C5680392"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850087", "name": "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022484", "MEDGEN:1842330", "Orphanet:620363", "UMLS:C5681826"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850088", "name": "Egf-related primary hypomagnesemia with intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022485", "MEDGEN:1843381", "Orphanet:620368", "UMLS:C5681825"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850089", "name": "Gitelman-like kidney tubulopathy due to mitochondrial dna mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022486", "MEDGEN:1843117", "Orphanet:620371", "UMLS:C5680390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850092", "name": "Post-cardiac arrest syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070306", "MEDGEN:1672555", "UMLS:C4285706"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850094", "name": "Drug-induced hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070310"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850095", "name": "X-linked severe syndromic thoracic aortic aneurysm and dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022490", "Orphanet:622925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850096", "name": "Sbds-related severe neonatal spondylometaphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022491", "MEDGEN:1843152", "Orphanet:622934", "UMLS:C5680412"]}
{"category": ["biolink:Disease"], "description": "A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.", "id": "MONDO:0850097", "name": "Autoimmune limbic encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022492", "MEDGEN:419645", "Orphanet:623615", "UMLS:C2930824", "icd11.foundation:1254443511"]}
{"category": ["biolink:Disease"], "description": "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.", "id": "MONDO:0850098", "name": "Oligoasthenoteratozoospermia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850099", "name": "Mir140-related spondyloepiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022495", "MEDGEN:1842455", "Orphanet:623695", "UMLS:C5680411"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850100", "name": "Body integrity dysphoria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022496", "MEDGEN:1626910", "Orphanet:623789", "UMLS:C4546282", "icd11.foundation:256572629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850101", "name": "Spitzoid melanoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070326", "MEDGEN:1713307", "NCIT:C165497", "UMLS:C3495721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850102", "name": "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022497", "MEDGEN:1842219", "Orphanet:624166", "UMLS:C5680408"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850103", "name": "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022498", "MEDGEN:1843156", "Orphanet:624178", "UMLS:C5680409"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850104", "name": "Paraneoplastic isolated brainstem encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022499", "MEDGEN:1842767", "Orphanet:624190", "UMLS:C5680406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850105", "name": "Non-specific autoimmune brainstem encephalitis with characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022500", "MEDGEN:1842903", "Orphanet:624199", "UMLS:C5680405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850106", "name": "Non-specific autoimmune brainstem encephalitis without characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022501", "MEDGEN:1843231", "Orphanet:624216", "UMLS:C5680407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850107", "name": "Postinfectious cerebellitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022502", "MEDGEN:1843009", "Orphanet:624244", "UMLS:C5575321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850108", "name": "Non-specific autoimmune cerebellar ataxia with characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022503", "MEDGEN:1842300", "Orphanet:624259", "UMLS:C5680404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850109", "name": "Non-specific autoimmune cerebellar ataxia without characteristic antibodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0022504", "MEDGEN:1843044", "Orphanet:624268", "UMLS:C5576703"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850110", "name": "Melanoma in congenital melanocytic nevus", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070327", "MEDGEN:313976", "NCIT:C48613", "UMLS:C1711221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850112", "name": "Breast implant-associated anaplastic large cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0070333", "GARD:0026577", "MEDGEN:1611347", "NCIT:C139012", "Orphanet:667662", "UMLS:C4528210", "icd11.foundation:1216213663"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850115", "name": "Early-onset obesity-hyperphagia-severe developmental delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0019685", "Orphanet:99704"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850122", "name": "Solid adenocarcinoma with mucin production", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080306", "GARD:0026578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850123", "name": "Autonomic nervous system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080321"]}
{"category": ["biolink:Disease"], "description": "A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.", "id": "MONDO:0850125", "name": "Malignant adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0080364"]}
{"category": ["biolink:Disease"], "description": "A sex cord-stromal benign neoplasm that arises from the testis.", "id": "MONDO:0850126", "name": "Testicular sex cord-stromal benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080371", "GARD:0026579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850127", "name": "Epithelioid inflammatory myofibroblastic sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080372", "GARD:0026580", "MEDGEN:1843877", "UMLS:C5880506"]}
{"category": ["biolink:Disease"], "description": "A male reproductive system disease that is located in the epididymis.", "id": "MONDO:0850128", "name": "Epididymis disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080373"]}
{"category": ["biolink:Disease"], "description": "A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.", "id": "MONDO:0850129", "name": "Gastroesophageal cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080374", "MEDGEN:577508", "UMLS:C0346619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850130", "name": "Gastroesophageal adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0080375"]}
{"category": ["biolink:Disease"], "description": "A benign neoplasm that derives from germ cells.", "id": "MONDO:0850144", "name": "Germ cell benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080601", "GARD:0026581", "MEDGEN:272358", "NCIT:C6449", "UMLS:C1332505"]}
{"category": ["biolink:Disease"], "description": "A kidney benign neoplasm that is located in the kidney cortex.", "id": "MONDO:0850149", "name": "Nephroma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080615"]}
{"category": ["biolink:Disease"], "description": "A kidney disease that is located in the kidney cortex.", "id": "MONDO:0850150", "name": "Kidney cortex disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080616"]}
{"category": ["biolink:Disease"], "description": "A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.", "id": "MONDO:0850151", "name": "Lymph node carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080618", "GARD:0026582"]}
{"category": ["biolink:Disease"], "description": "A sensory system benign neoplasm that is located in the auditory system.", "id": "MONDO:0850152", "name": "Auditory system benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850154", "name": "Tongue carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080641", "GARD:0028068", "MEDGEN:154320", "NCIT:C4824", "UMLS:C0558353"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.", "id": "MONDO:0850156", "name": "B-lymphoblastic leukemia/lymphoma mll rearranged", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080644", "GARD:0026583"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.", "id": "MONDO:0850157", "name": "B-lymphoblastic leukemia/lymphoma with etv6-runx1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080645", "GARD:0026584"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).", "id": "MONDO:0850160", "name": "B-lymphoblastic leukemia/lymphoma with il3-igh", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080648", "GARD:0026585"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.", "id": "MONDO:0850161", "name": "B-lymphoblastic leukemia/lymphoma, bcr-abl1–like", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080650", "GARD:0026586", "NCIT:C129787"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.", "id": "MONDO:0850162", "name": "B-lymphoblastic leukemia/lymphoma with iamp21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080651", "GARD:0026587", "NCIT:C130039"]}
{"category": ["biolink:Disease"], "description": "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.", "id": "MONDO:0850170", "name": "Spinal muscular atrophy type 0", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080667", "GARD:0026588", "MEDGEN:1843403", "UMLS:C4324643"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.", "id": "MONDO:0850196", "name": "Medulloblastoma wnt activated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080702", "GARD:0026589", "MEDGEN:1392356", "NCIT:C129440", "UMLS:C4331965"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.", "id": "MONDO:0850197", "name": "Medulloblastoma shh activated", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080703", "GARD:0026590", "MEDGEN:1375478", "NCIT:C129441", "UMLS:C4330671"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.", "id": "MONDO:0850198", "name": "Medulloblastoma non-wnt/non-shh", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080706", "GARD:0026591", "MEDGEN:1387799", "NCIT:C129444", "UMLS:C4330667"]}
{"category": ["biolink:Disease"], "description": "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.", "id": "MONDO:0850199", "name": "Nk cell deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080709", "GARD:0026592", "MEDGEN:1644714", "UMLS:C4693357"]}
{"category": ["biolink:Disease"], "description": "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.", "id": "MONDO:0850200", "name": "T cell and nk cell immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080710", "GARD:0026593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850201", "name": "Hereditary alpha tryptasemia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080714", "MEDGEN:1797172", "UMLS:C5565749"]}
{"category": ["biolink:Disease"], "description": "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.", "id": "MONDO:0850223", "name": "Libman-sacks endocarditis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080740", "MEDGEN:69175", "UMLS:C0242380"]}
{"category": ["biolink:Disease"], "description": "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.", "id": "MONDO:0850225", "name": "Autoimmune cholangitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080742", "GARD:0026594", "MEDGEN:881331", "UMLS:C4075851"]}
{"category": ["biolink:Disease"], "description": "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.", "id": "MONDO:0850230", "name": "Chronic urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080747", "MEDGEN:537829", "UMLS:C0263338", "icd11.foundation:901000137"]}
{"category": ["biolink:Disease"], "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "id": "MONDO:0850231", "name": "Erythema nodosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080750", "ICD10CM:L52", "ICD10WHO:L52", "MEDGEN:41858", "UMLS:C0014743", "icd11.foundation:1628519266"]}
{"category": ["biolink:Disease"], "description": "A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.", "id": "MONDO:0850257", "name": "Mucinous pancreas adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080782", "GARD:0028069"]}
{"category": ["biolink:Disease"], "description": "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.", "id": "MONDO:0850267", "name": "Childhood acute megakaryoblastic leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080794", "GARD:0026595", "MEDGEN:79023", "NCIT:C7972", "UMLS:C0279650"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.", "id": "MONDO:0850269", "name": "Core binding factor acute myeloid leukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080796", "GARD:0026596", "MEDGEN:825586", "NCIT:C122688", "UMLS:C3839741"]}
{"category": ["biolink:Disease"], "description": "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.", "id": "MONDO:0850271", "name": "Myeloid leukemia associated with down syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080798", "GARD:0026597", "MEDGEN:416725", "NCIT:C43223", "UMLS:C2825149"]}
{"category": ["biolink:Disease"], "description": "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.", "id": "MONDO:0850273", "name": "Salivary gland mucinous adenocarcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080800", "GARD:0028070", "MEDGEN:364330", "NCIT:C62193", "UMLS:C1882973"]}
{"category": ["biolink:Disease"], "description": "A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.", "id": "MONDO:0850281", "name": "Mammary analog secretory carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080808", "GARD:0028071", "MEDGEN:875770", "NCIT:C123384", "UMLS:C4042906"]}
{"category": ["biolink:Disease"], "description": "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.", "id": "MONDO:0850282", "name": "Chronic asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080809", "MEDGEN:1843404", "UMLS:C0877430"]}
{"category": ["biolink:Disease"], "description": "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.", "id": "MONDO:0850283", "name": "Acute asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080810", "MEDGEN:578946", "UMLS:C0349790"]}
{"category": ["biolink:Disease"], "description": "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.", "id": "MONDO:0850284", "name": "Extrinsic asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080811"]}
{"category": ["biolink:Disease"], "description": "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.", "id": "MONDO:0850285", "name": "Environmental induced asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080819"]}
{"category": ["biolink:Disease"], "description": "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.", "id": "MONDO:0850286", "name": "Exercise-induced bronchoconstriction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080821", "MEDGEN:4606", "UMLS:C0015263"]}
{"category": ["biolink:Disease"], "description": "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "id": "MONDO:0850287", "name": "Aspirin-induced respiratory disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080822"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Human betaherpesvirus 5.", "id": "MONDO:0850289", "name": "Human betaherpesvirus 5 infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080827"]}
{"category": ["biolink:Disease"], "description": "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.", "id": "MONDO:0850292", "name": "Subjective cognitive decline", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080831"]}
{"category": ["biolink:Disease"], "description": "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.", "id": "MONDO:0850295", "name": "Acquired laryngomalacia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080834", "MEDGEN:1762305", "UMLS:C5437619", "icd11.foundation:1224426540"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.", "id": "MONDO:0850301", "name": "Pemphigoid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080841", "GARD:0026598", "ICD10CM:L12", "ICD10WHO:L12", "SCTID:86142006", "icd11.foundation:445309625"]}
{"category": ["biolink:Disease"], "description": "A meningioma that arises within the cranial cavity.", "id": "MONDO:0850302", "name": "Intracranial meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["brain meningioma", "brain meningioma (disease)", "meningioma (disease) of brain"], "xref": ["DOID:0060106", "DOID:0080842", "GARD:0026599", "MEDGEN:83891", "NCIT:C4656", "UMLS:C0349604"]}
{"category": ["biolink:Disease"], "description": "A meningioma that affects the supratentorial brain.", "id": "MONDO:0850303", "name": "Supratentorial meningioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080843", "GARD:0026600", "MEDGEN:234913", "NCIT:C7048", "UMLS:C1336537"]}
{"category": ["biolink:Disease"], "description": "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.", "id": "MONDO:0850306", "name": "Latent autoimmune diabetes in adults", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080846", "MEDGEN:895261", "UMLS:C1739108", "icd11.foundation:1918279014"]}
{"category": ["biolink:Disease"], "description": "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.", "id": "MONDO:0850312", "name": "Anaplastic pleomorphic xanthoastrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080854", "GARD:0013624", "MEDGEN:924393", "NCIT:C129327", "UMLS:C4283858"]}
{"category": ["biolink:Disease"], "description": "An anaplastic astrocytoma carrying IDH mutations.", "id": "MONDO:0850332", "name": "Idh-mutant anaplastic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080875", "GARD:0026601"]}
{"category": ["biolink:Disease"], "description": "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.", "id": "MONDO:0850333", "name": "Idh-wildtype anaplastic astrocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080876", "GARD:0026602", "NCIT:C129291"]}
{"category": ["biolink:Disease"], "description": "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.", "id": "MONDO:0850335", "name": "Idh-wildtype glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080878", "GARD:0026603", "NCIT:C39750"]}
{"category": ["biolink:Disease"], "description": "A spinal cord ependymoma that is characterized by MYCN amplification.", "id": "MONDO:0850338", "name": "Spinal ependymoma, mycn-amplified", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080888", "GARD:0026604", "MEDGEN:1806198", "NCIT:C186494", "UMLS:C5670583"]}
{"category": ["biolink:Disease"], "description": "A high grade ependymoma that is located within the posterior fossa.", "id": "MONDO:0850339", "name": "Posterior fossa ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080889", "GARD:0026605", "MEDGEN:1811888", "NCIT:C186443", "UMLS:C5670542"]}
{"category": ["biolink:Disease"], "description": "A high grade ependymoma that is located within the supratentorial brain.", "id": "MONDO:0850340", "name": "Supratentorial ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080890", "GARD:0026606", "MEDGEN:1811811", "NCIT:C186343", "UMLS:C5670470"]}
{"category": ["biolink:Disease"], "description": "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.", "id": "MONDO:0850345", "name": "Lung pleomorphic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080899", "MEDGEN:314017", "NCIT:C45542", "UMLS:C1711397"]}
{"category": ["biolink:Disease"], "description": "A rhabdomyosarcoma located in the oral cavity.", "id": "MONDO:0850346", "name": "Oral rhabdomyosarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080900", "GARD:0026607"]}
{"category": ["biolink:Disease"], "description": "A sarcomatoid transitional cell carcinoma that is located in the bladder.", "id": "MONDO:0850347", "name": "Bladder sarcomatoid transitional cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080901", "GARD:0026608"]}
{"category": ["biolink:Disease"], "description": "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.", "id": "MONDO:0850348", "name": "Bladder small cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0080902"]}
{"category": ["biolink:Disease"], "description": "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.", "id": "MONDO:0850349", "name": "Astroblastoma, mn1-altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080904", "GARD:0026609"]}
{"category": ["biolink:Disease"], "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "id": "MONDO:0850353", "name": "Castration-resistant prostate carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080909", "MEDGEN:730224", "NCIT:C130234", "UMLS:C1328504"]}
{"category": ["biolink:Disease"], "description": "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.", "id": "MONDO:0850368", "name": "Immunoglobulin heavy-and-light chain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080935", "GARD:0026610"]}
{"category": ["biolink:Disease"], "description": "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.", "id": "MONDO:0850371", "name": "Nonobstructive coronary artery disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080938"]}
{"category": ["biolink:Disease"], "description": "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.", "id": "MONDO:0850388", "name": "Childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080956", "GARD:0026611", "MEDGEN:1375924", "NCIT:C6772", "UMLS:C4316809"]}
{"category": ["biolink:Disease"], "description": "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.", "id": "MONDO:0850415", "name": "Rhabdomyolysis-myalgia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080992", "GARD:0026612"]}
{"category": ["biolink:Disease"], "description": "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.", "id": "MONDO:0850416", "name": "Autoimmune epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0080994"]}
{"category": ["biolink:Disease"], "description": "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.", "id": "MONDO:0850417", "name": "Tuberculous encephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080995", "GARD:0026613"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.", "id": "MONDO:0850418", "name": "Diffuse large b-cell lymphoma activated b-cell type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080996", "GARD:0026614", "MEDGEN:272545", "NCIT:C36081", "UMLS:C1333296"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.", "id": "MONDO:0850419", "name": "Diffuse large b-cell lymphoma germinal center b-cell type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080997", "GARD:0026615", "MEDGEN:234202", "NCIT:C36080", "UMLS:C1333295"]}
{"category": ["biolink:Disease"], "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "id": "MONDO:0850420", "name": "Acute necrotizing pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080998", "MEDGEN:75645", "UMLS:C0267941", "icd11.foundation:2063881303"]}
{"category": ["biolink:Disease"], "description": "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.", "id": "MONDO:0850421", "name": "Acute hemorrhagic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080999", "MEDGEN:541079", "UMLS:C0267940"]}
{"category": ["biolink:Disease"], "description": "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.", "id": "MONDO:0850426", "name": "High-grade b-cell lymphoma double-hit/triple-hit", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["DOID:0081004", "GARD:0026616"]}
{"category": ["biolink:Disease"], "description": "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.", "id": "MONDO:0850445", "name": "Benign peritoneal solitary fibrous tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081026"]}
{"category": ["biolink:Disease"], "description": "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.", "id": "MONDO:0850449", "name": "Mixed phenotype acute leukemia with bcr-abl1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081036", "GARD:0026617"]}
{"category": ["biolink:Disease"], "description": "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.", "id": "MONDO:0850450", "name": "Mixed phenotype acute leukemia with mll rearranged", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081037", "GARD:0026618"]}
{"category": ["biolink:Disease"], "description": "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.", "id": "MONDO:0850451", "name": "Mixed phenotype acute leukemia, b/myeloid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081038", "GARD:0026619", "MEDGEN:501146", "NCIT:C82212", "UMLS:C3472616"]}
{"category": ["biolink:Disease"], "description": "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.", "id": "MONDO:0850452", "name": "Mixed phenotype acute leukemia,t/myeloid", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081039", "GARD:0026620", "NCIT:C82213"]}
{"category": ["biolink:Disease"], "description": "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.", "id": "MONDO:0850459", "name": "Primary cutaneous gamma-delta t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081050", "GARD:0026621", "MEDGEN:313069", "NCIT:C45340", "UMLS:C1707547"]}
{"category": ["biolink:Disease"], "description": "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.", "id": "MONDO:0850461", "name": "Neurobehavioral disorder with prenatal alcohol exposure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081052"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.", "id": "MONDO:0850468", "name": "Bn2 diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081064", "GARD:0026623", "MEDGEN:1650982", "NCIT:C148395", "UMLS:C4725003"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.", "id": "MONDO:0850469", "name": "Ezb diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081065", "GARD:0026624", "MEDGEN:1653316", "NCIT:C148398", "UMLS:C4725006"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.", "id": "MONDO:0850470", "name": "Mcd diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081066", "GARD:0026625", "MEDGEN:1669702", "NCIT:C148394", "UMLS:C4725002"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.", "id": "MONDO:0850471", "name": "N1 diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081067", "GARD:0026626", "MEDGEN:1650336", "NCIT:C148396", "UMLS:C4725004"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.", "id": "MONDO:0850472", "name": "St2 diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081068", "GARD:0026627", "MEDGEN:1815989", "NCIT:C187445", "UMLS:C5707084"]}
{"category": ["biolink:Disease"], "description": "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.", "id": "MONDO:0850473", "name": "A53 diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081069", "GARD:0026628", "MEDGEN:1815990", "NCIT:C187447", "UMLS:C5707085"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.", "id": "MONDO:0850492", "name": "Acute myeloid leukemia, t(8;21)(q22; q22.1)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081093", "GARD:0026629"]}
{"category": ["biolink:Disease"], "description": "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.", "id": "MONDO:0850495", "name": "Acute myeloid leukemia, t(1;22)(p13;q13)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["DOID:0081096", "GARD:0026630"]}
{"category": ["biolink:Disease"], "id": "MONDO:0850514", "name": "Inclusion body myopathy and brain white matter abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081121", "GARD:0026631", "MEDGEN:1812978", "OMIM:619733", "UMLS:C5676909"]}
{"category": ["biolink:Disease"], "description": "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.", "id": "MONDO:0850519", "name": "Tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081132", "GARD:0026632"]}
{"category": ["biolink:Disease"], "description": "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.", "id": "MONDO:0850618", "name": "Injection anthrax", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081239", "GARD:0028072"]}
{"category": ["biolink:Disease"], "description": "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.", "id": "MONDO:0850812", "name": "Dendritic cell deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0111963", "GARD:0026633", "MEDGEN:1656300", "UMLS:C4746814"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.", "id": "MONDO:0851095", "name": "Kinsship syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0112383", "MEDGEN:1779339", "OMIM:619297", "UMLS:C5543317"]}
{"category": ["biolink:Disease"], "id": "MONDO:0851100", "name": "Malignant olfactory nerve neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:370", "MEDGEN:105419", "NCIT:C4768", "UMLS:C0496838"]}
{"category": ["biolink:Disease"], "id": "MONDO:0851102", "name": "Pulmonary artery disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:60001"]}
{"category": ["biolink:Disease"], "description": "A female reproductive system disease that is located in Bartholin's gland.", "id": "MONDO:0851103", "name": "Bartholin's gland disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:60002", "MEDGEN:635229", "UMLS:C0477776"]}
{"category": ["biolink:Disease"], "id": "MONDO:0851105", "name": "Cerebrovascular benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:60007"]}
{"category": ["biolink:Disease"], "description": "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.", "id": "MONDO:0858910", "name": "Dropped head syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060034", "MEDGEN:757938", "UMLS:C3266164"]}
{"category": ["biolink:Disease"], "description": "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.", "id": "MONDO:0858916", "name": "Pituitary blastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081244", "GARD:0026634", "MEDGEN:1656462", "NCIT:C155304", "UMLS:C4743978"]}
{"category": ["biolink:Disease"], "description": "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.", "id": "MONDO:0858917", "name": "Cauda equina neuroendocrine tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081245", "MEDGEN:272437", "NCIT:C5324", "UMLS:C1332860"]}
{"category": ["biolink:Disease"], "description": "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.", "id": "MONDO:0858921", "name": "Ewsr1-negative small round cell tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081249", "MEDGEN:1714743", "NCIT:C165671", "UMLS:C5237359"]}
{"category": ["biolink:Disease"], "description": "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).", "id": "MONDO:0858926", "name": "Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081264"]}
{"category": ["biolink:Disease"], "description": "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.", "id": "MONDO:0858939", "name": "Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081277", "GARD:0026635", "MEDGEN:1808288", "NCIT:C185467", "UMLS:C5669918"]}
{"category": ["biolink:Disease"], "description": "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.", "id": "MONDO:0858940", "name": "Infant-type hemispheric glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "xref": ["DOID:0081278", "GARD:0026636", "MEDGEN:1806401", "NCIT:C185471", "Orphanet:695136", "UMLS:C5669919"]}
{"category": ["biolink:Disease"], "description": "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.", "id": "MONDO:0858944", "name": "Myxoid glioneuronal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081285", "MEDGEN:1791986", "NCIT:C179229", "UMLS:C5555545"]}
{"category": ["biolink:Disease"], "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "id": "MONDO:0858950", "name": "Traumatic brain injury", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_injury", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081292"]}
{"category": ["biolink:Disease"], "description": "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.", "id": "MONDO:0858956", "name": "Diffuse leptomeningeal glioneuronal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar"], "xref": ["DOID:0081302", "MEDGEN:1391318", "NCIT:C129424", "UMLS:C4329735"]}
{"category": ["biolink:Disease"], "description": "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.", "id": "MONDO:0858957", "name": "Multinodular and vacuolating neuronal tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081303", "MEDGEN:1372723", "NCIT:C129427", "UMLS:C4330721"]}
{"category": ["biolink:Disease"], "description": "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.", "id": "MONDO:0858958", "name": "High-grade astrocytoma with piloid features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081304", "GARD:0026637", "MEDGEN:1812304", "NCIT:C185879", "UMLS:C5670122"]}
{"category": ["biolink:Disease"], "description": "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.", "id": "MONDO:0858959", "name": "Polymorphous low grade neuroepithelial tumor of the young", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081305", "MEDGEN:1792771", "NCIT:C180378", "UMLS:C5556330"]}
{"category": ["biolink:Disease"], "description": "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.", "id": "MONDO:0858960", "name": "Spindle cell oncocytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081306", "GARD:0026638", "MEDGEN:458787", "NCIT:C94537", "UMLS:C2986561"]}
{"category": ["biolink:Disease"], "description": "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.", "id": "MONDO:0858966", "name": "Central nervous system tumor with bcor internal tandem duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081315", "GARD:0028073", "MEDGEN:1811171", "NCIT:C186556", "UMLS:C5670630"]}
{"category": ["biolink:Disease"], "description": "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.", "id": "MONDO:0858967", "name": "Primary intracranial sarcoma, dicer1-mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081316", "GARD:0026639", "MEDGEN:1805730", "NCIT:C186610", "UMLS:C5670660"]}
{"category": ["biolink:Disease"], "description": "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants", "id": "MONDO:0858974", "name": "Breast implant illness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081323"]}
{"category": ["biolink:Disease"], "id": "MONDO:0858997", "name": "Cancer of unknown primary site", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026640", "MEDGEN:10298", "NCIT:C8566", "Orphanet:631251", "UMLS:C0027667"]}
{"category": ["biolink:Disease"], "id": "MONDO:0858998", "name": "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026641", "MEDGEN:1843408", "Orphanet:632603", "UMLS:C5816803"]}
{"category": ["biolink:Disease"], "id": "MONDO:0858999", "name": "Kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026642", "Orphanet:633004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859000", "name": "Slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026643", "MEDGEN:1843423", "Orphanet:633014", "UMLS:C5816806"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859002", "name": "Intellectual disability-early-onset cataract-microcephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026645", "Orphanet:633035"]}
{"category": ["biolink:Disease"], "description": "An inborn disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.", "id": "MONDO:0859003", "name": "Paics deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["phosphoribosylaminoimidazole carboxylase deficiency"], "xref": ["GARD:0026646", "OMIM:619859", "Orphanet:633099"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859004", "name": "Invasive scopulariopsis infection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026647", "MEDGEN:1843422", "Orphanet:633124", "UMLS:C5816808"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859005", "name": "Preaxial digit brachydactyly-webbed fingers", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026648", "MEDGEN:1843425", "Orphanet:633211", "UMLS:C5816807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859006", "name": "Proximal femoral focal deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026649", "MEDGEN:609280", "Orphanet:633228", "UMLS:C0431996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859007", "name": "Mosaic legius syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026650", "MEDGEN:1843406", "Orphanet:634511", "UMLS:C5816780"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859008", "name": "Mosaic neurofibromatosis/schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026651", "MEDGEN:1843398", "Orphanet:634518", "UMLS:C5816781"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859046", "name": "Rhabdomyosarcoma, embryonal, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026652", "MEDGEN:357232", "OMIM:180295", "UMLS:C1867234"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859080", "name": "Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794140", "OMIM:301066", "UMLS:C5561930"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859081", "name": "Chromosome xq13 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026653", "MEDGEN:1809227", "OMIM:301069", "UMLS:C5677057"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859082", "name": "Thrombophilia, x-linked, due to factor 8 defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026654", "MEDGEN:1805414", "OMIM:301071", "UMLS:C5676879"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the TLR7 gene.", "id": "MONDO:0859083", "name": "Systemic lupus erythematosus 17", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026655", "MEDGEN:1804329", "OMIM:301080", "UMLS:C5676884"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859085", "name": "Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823953", "OMIM:301094", "UMLS:C5774179"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859086", "name": "Intellectual developmental disorder, x-linked 110", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026656", "MEDGEN:1823954", "OMIM:301095", "UMLS:C5774180"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859136", "name": "Alzahrani-kuwahara syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:clingen", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018544", "MEDGEN:1782127", "OMIM:619268", "UMLS:C5543274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859137", "name": "Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1781371", "OMIM:619286", "UMLS:C5543306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859139", "name": "Blepharophimosis-impaired intellectual development syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SMARCA2-related blepharophimosis-intellectual disability syndrome"], "xref": ["DOID:0081442", "GARD:0026657", "MEDGEN:1779966", "OMIM:619293", "Orphanet:637013", "UMLS:C5443984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859141", "name": "Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018545", "MEDGEN:1786150", "OMIM:619306", "UMLS:C5543332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859142", "name": "Hiatt-neu-cooper neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1785187", "OMIM:619311", "UMLS:C5543338"]}
{"category": ["biolink:Disease"], "description": "A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.", "id": "MONDO:0859143", "name": "Radio-tartaglia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SPEN-related neurodevelopmental disorder"], "xref": ["GARD:0027075", "MEDGEN:1778557", "OMIM:619312", "Orphanet:662234", "UMLS:C5543339"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859144", "name": "Buratti-harel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0018546", "MEDGEN:1788293", "OMIM:619314", "UMLS:C5543351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859146", "name": "Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1784590", "OMIM:619321", "UMLS:C5543375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859147", "name": "Marbach-rustad progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["LEMD2-associated nuclear envelopathy with early progeroid appearance", "Marbach-Rustad progeroid syndrome", "Wormian bones-micrognathia-abnormal dentition-progeroid syndrome"], "xref": ["GARD:0026658", "MEDGEN:1784907", "OMIM:619322", "Orphanet:659873", "UMLS:C5543388"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859148", "name": "Neurodevelopmental disorder with seizures and gingival overgrowth", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070651", "MEDGEN:1784299", "OMIM:619323", "UMLS:C5543395"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859149", "name": "Hypertriglyceridemia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027307", "MEDGEN:1783778", "OMIM:619324", "UMLS:C5543398"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859150", "name": "Bdv syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CPE-related Prader-Willi-like syndrome"], "xref": ["GARD:0027308", "MEDGEN:1785671", "OMIM:619326", "Orphanet:633028", "UMLS:C5543403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859151", "name": "Fibromuscular dysplasia, multifocal", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1778238", "OMIM:619329", "UMLS:C5543412"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the GEMIN5 gene, characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity.", "id": "MONDO:0859152", "name": "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GEMIN5 disorder", "GEMIN5-related neurodevelopmental disorder", "NEDCAM"], "xref": ["DOID:0070443", "MEDGEN:1781936", "OMIM:619333", "UMLS:C5543427"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859154", "name": "Bartsocas-papas syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0016444", "MEDGEN:1778443", "OMIM:619339", "UMLS:C5543445"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859155", "name": "Chromosome 1p36 deletion syndrome, proximal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026659", "MEDGEN:1794324", "OMIM:619343", "UMLS:C5562114"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859156", "name": "Dysostosis multiplex, ain-naz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026660", "MEDGEN:1780944", "OMIM:619345", "UMLS:C5444223"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859157", "name": "Visceral myopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0016446", "MEDGEN:1783630", "OMIM:619350", "UMLS:C5543466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859158", "name": "Ataxia, intention tremor, and hypotonia syndrome, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1787902", "OMIM:619352", "UMLS:C5543478"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859159", "name": "Deafness, cataract, impaired intellectual development, and polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1781637", "OMIM:619354", "UMLS:C5543482"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX16 gene.", "id": "MONDO:0859160", "name": "Mitochondrial complex iv deficiency, nuclear type 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070507", "GARD:0016448", "MEDGEN:1786100", "OMIM:619355", "UMLS:C5543491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859161", "name": "Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1788511", "OMIM:619356", "UMLS:C5543496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859162", "name": "Neurodevelopmental disorder with infantile epileptic spasms", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1781627", "OMIM:619373", "UMLS:C5543538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859163", "name": "Faundes-banka syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1782083", "OMIM:619376", "UMLS:C5543554"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859164", "name": "Osteootohepatoenteric syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028074", "MEDGEN:1785846", "OMIM:619377", "UMLS:C5543557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859165", "name": "Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1780615", "OMIM:619383", "UMLS:C5543591"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859166", "name": "Visceral leiomyopathy, african degenerative", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1781444", "OMIM:619400", "UMLS:C5443983"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859167", "name": "Hypokalemic tubulopathy and deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1785163", "OMIM:619406", "UMLS:C5543621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859168", "name": "Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051044", "GARD:0026661", "MEDGEN:1794147", "OMIM:619424", "UMLS:C5561937"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859169", "name": "White-kernohan syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1785087", "OMIM:619426", "UMLS:C5543635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859170", "name": "Retinal dystrophy and microvillus inclusion disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794153", "OMIM:619446", "UMLS:C5561943"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859171", "name": "Luo-schoch-yamamoto syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070416", "MEDGEN:1794156", "OMIM:619460", "UMLS:C5561946"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859172", "name": "Hemolytic disease of fetus and newborn, rh-induced", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare"], "xref": ["GARD:0026662", "MEDGEN:1789316", "OMIM:619462", "UMLS:C0748400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859173", "name": "Sick sinus syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026663", "MEDGEN:1794159", "OMIM:619464", "UMLS:C5561949"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859174", "name": "Usmani-riazuddin syndrome, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794162", "OMIM:619467", "UMLS:C5561952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859175", "name": "Nephronophthisis-like nephropathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026664", "MEDGEN:1794163", "OMIM:619468", "UMLS:C5561953"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859176", "name": "Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794164", "OMIM:619470", "UMLS:C5561954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859177", "name": "Viss syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794165", "OMIM:619472", "UMLS:C5561955"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859178", "name": "Developmental delay, impaired speech, and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794167", "OMIM:619475", "UMLS:C5561957"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859179", "name": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070469", "MEDGEN:1790413", "OMIM:619480", "UMLS:C5551361"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859180", "name": "Bile acid malabsorption, primary, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794172", "OMIM:619481", "UMLS:C5561962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859181", "name": "Degcags syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794177", "OMIM:619488", "UMLS:C5561967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859182", "name": "Short stature, dauber-argente type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794178", "OMIM:619489", "UMLS:C5561968"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859184", "name": "Ventriculomegaly and arthrogryposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794183", "OMIM:619501", "UMLS:C5561973"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859185", "name": "Neurodevelopmental disorder with hypotonia and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794184", "OMIM:619503", "UMLS:C5561974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859186", "name": "Chopra-amiel-gordon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028075", "MEDGEN:1794185", "OMIM:619504", "UMLS:C5561975"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859187", "name": "Neurodevelopmental disorder with hypotonia and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794187", "OMIM:619512", "UMLS:C5561977"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859188", "name": "Neurodevelopmental disorder with seizures and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794189", "OMIM:619517", "UMLS:C5561979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859189", "name": "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794190", "OMIM:619518", "UMLS:C5561980"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859190", "name": "Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ZMYM2-related neurodevelopmental disorder with multiple anomalies"], "xref": ["MEDGEN:1794194", "OMIM:619522", "UMLS:C5561984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859191", "name": "Biliary, renal, neurologic, and skeletal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794200", "OMIM:619534", "UMLS:C5561990"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859192", "name": "Cerebral cavernous malformation 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["cerebral cavernous malformations 4"], "xref": ["GARD:0026665", "MEDGEN:1794201", "OMIM:619538", "UMLS:C5561991"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859193", "name": "Neuroocular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1790414", "OMIMPS:619539", "UMLS:C5551362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859194", "name": "Boudin-mortier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794202", "OMIM:619543", "UMLS:C5561992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859196", "name": "Usmani-riazuddin syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794204", "OMIM:619548", "UMLS:C5561994"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859197", "name": "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081262", "GARD:0028076", "MEDGEN:1794207", "OMIM:619556", "UMLS:C5561997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859198", "name": "Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794208", "OMIM:619557", "UMLS:C5561998"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859199", "name": "Developmental delay with or without intellectual impairment or behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794214", "OMIM:619575", "UMLS:C5562004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859200", "name": "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"], "xref": ["GARD:0026666", "MEDGEN:1794215", "OMIM:619576", "Orphanet:641361", "UMLS:C5562005"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859201", "name": "Neurodevelopmental disorder with impaired language and ataxia and with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794216", "OMIM:619580", "UMLS:C5562006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859202", "name": "Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794222", "OMIM:619595", "UMLS:C5562012"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859203", "name": "Rhizomelic dysplasia, ain-naz type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026667", "MEDGEN:1794223", "OMIM:619598", "UMLS:C5562013"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859204", "name": "Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794225", "OMIM:619602", "UMLS:C5562015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859205", "name": "Delayed puberty, self-limited", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["MEDGEN:1789612", "OMIM:619613", "UMLS:C2874202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859206", "name": "Neurodevelopmental disorder with hearing loss and spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027147", "MEDGEN:1794234", "OMIM:619616", "Orphanet:659975", "UMLS:C5562024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859207", "name": "Neurodevelopmental disorder with hypotonia and gross motor and speech delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794241", "OMIM:619639", "UMLS:C5562031"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859208", "name": "Hengel-maroofian-schols syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0070408", "MEDGEN:1794242", "OMIM:619641", "Orphanet:697067", "UMLS:C5562032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859209", "name": "Zaki syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070473", "MEDGEN:1794247", "OMIM:619648", "UMLS:C5562037"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859210", "name": "Chromosome 16q12 duplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026668", "MEDGEN:1794292", "OMIM:619649", "UMLS:C5562082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859211", "name": "Neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794248", "OMIM:619651", "UMLS:C5562038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859212", "name": "Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794250", "OMIM:619653", "UMLS:C5562040"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859213", "name": "Congenital heart defects, multiple types, 8, with or without heterotaxy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794252", "OMIM:619657", "UMLS:C5562042"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859214", "name": "Marbach-schaaf neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027395", "MEDGEN:1794260", "OMIM:619680", "Orphanet:692173", "UMLS:C5562050"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859215", "name": "Dystonia, early-onset, and/or spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070445", "MEDGEN:1794261", "OMIM:619681", "UMLS:C5562051"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859216", "name": "Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794262", "OMIM:619685", "UMLS:C5562052"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859217", "name": "Brunet-wagner neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061126", "MEDGEN:1794266", "OMIM:619690", "UMLS:C5562056"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859218", "name": "Developmental delay with variable neurologic and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1794270", "OMIM:619694", "UMLS:C5562060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859219", "name": "Rauch-steindl syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027076", "MEDGEN:1794271", "OMIM:619695", "Orphanet:659642", "UMLS:C5562061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859220", "name": "Ferguson-bonni neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070677", "MEDGEN:1794275", "OMIM:619699", "UMLS:C5562065"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859221", "name": "Yoon-bellen neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070468", "MEDGEN:1794276", "OMIM:619701", "UMLS:C5562066"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859222", "name": "Heterotaxy, visceral, 12, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051026", "GARD:0026669", "MEDGEN:1803695", "OMIM:619702", "UMLS:C5676898"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859223", "name": "Congenital disorder of glycosylation, type iw, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026670", "MEDGEN:1794278", "OMIM:619714", "UMLS:C5562068"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859224", "name": "Intellectual disability and myopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070600", "MEDGEN:1808193", "OMIM:619719", "UMLS:C5676904"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859225", "name": "Neurodevelopmental disorder with or without variable movement or behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1802087", "OMIM:619725", "UMLS:C5676908"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859226", "name": "Craniotubular dysplasia, ikegawa type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112340", "GARD:0026671", "MEDGEN:1806238", "OMIM:619727", "UMLS:C5575335"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859228", "name": "Combined oxidative phosphorylation deficiency 55", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070428", "GARD:0026672", "MEDGEN:1806598", "OMIM:619743", "UMLS:C5676915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859229", "name": "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1808634", "OMIM:619761", "UMLS:C5676924"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859230", "name": "Kury-isidor syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1807460", "OMIM:619762", "UMLS:C5676925"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859231", "name": "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1802903", "OMIM:619769", "Orphanet:694956", "UMLS:C5676928"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859232", "name": "Neurodevelopmental disorder with central hypotonia and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1807420", "OMIM:619797", "UMLS:C5676944"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859233", "name": "Epidermolysis bullosa, junctional 6, with pyloric atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026673", "MEDGEN:1803348", "OMIM:619817", "UMLS:C5676957"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859234", "name": "Agammaglobulinemia 8b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081143", "GARD:0026674", "MEDGEN:1808468", "OMIM:619824", "UMLS:C5676958"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859235", "name": "Auditory neuropathy, autosomal dominant 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0112373", "GARD:0026675", "MEDGEN:1805371", "OMIM:619832", "UMLS:C5676964"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859236", "name": "Neurodevelopmental disorder with neuromuscular and skeletal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1803456", "OMIM:619833", "UMLS:C5676965"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859237", "name": "3-methylglutaconic aciduria, type viia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081133", "GARD:0026676", "MEDGEN:1813022", "OMIM:619835", "UMLS:C5676967"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859238", "name": "Hypoalphalipoproteinemia, primary, 2, intermediate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026677", "MEDGEN:1801755", "OMIM:619836", "UMLS:C5677030"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859239", "name": "Chilton-okur-chung neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1803276", "OMIM:619841", "UMLS:C5677022"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859240", "name": "Intellectual developmental disorder with or without peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1807523", "OMIM:619844", "Orphanet:694937", "UMLS:C5676969"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859241", "name": "Neurodegeneration, childhood-onset, with progressive microcephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027309", "MEDGEN:1801540", "OMIM:619847", "UMLS:C5676972"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859242", "name": "Leukodystrophy, hypomyelinating, 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070406", "GARD:0026678", "MEDGEN:1805365", "OMIM:619851", "UMLS:C5676974"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859243", "name": "Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027310", "MEDGEN:1812577", "OMIM:619854", "UMLS:C5676975"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859245", "name": "Spinocerebellar ataxia, autosomal recessive 32", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070413", "GARD:0026679", "MEDGEN:1802496", "OMIM:619862", "UMLS:C5676978"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859246", "name": "Leukodystrophy, childhood-onset, remitting", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026680", "MEDGEN:1804145", "OMIM:619864", "UMLS:C5676979"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859247", "name": "Neurocardiofaciodigital syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1804193", "OMIM:619869", "UMLS:C5677020"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859248", "name": "Corneal dystrophy, punctiform and polychromatic pre-descemet", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026681", "MEDGEN:1806182", "OMIM:619871", "UMLS:C5676982"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859249", "name": "Parenti-mignot neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1808333", "OMIM:619873", "UMLS:C5676984"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859250", "name": "Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1810140", "OMIM:619876", "UMLS:C5676986"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859251", "name": "Dentici-novelli neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1810366", "OMIM:619877", "UMLS:C5676987"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859252", "name": "Neurodevelopmental disorder with poor growth and skeletal anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1804653", "OMIM:619880", "UMLS:C5676990"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859253", "name": "Osteoporosis, childhood- or juvenile-onset, with developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1802083", "OMIM:619884", "UMLS:C5676992"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859254", "name": "Hepatorenocardiac degenerative fibrosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1808950", "OMIM:619902", "UMLS:C5676996"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859255", "name": "Peripheral motor neuropathy, childhood-onset, biotin-responsive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026682", "MEDGEN:1809728", "OMIM:619903", "UMLS:C5676997"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859256", "name": "Neurodevelopmental disorder with language delay and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070444", "MEDGEN:1805816", "OMIM:619908", "UMLS:C5676998"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene.", "id": "MONDO:0859257", "name": "Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NR4A2-related neurodevelopmental syndrome"], "xref": ["GARD:0027148", "MEDGEN:1805453", "OMIM:619911", "Orphanet:660017", "UMLS:C5677001"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859258", "name": "Neurodevelopmental disorder with dystonia and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1804461", "OMIM:619922", "UMLS:C5677004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859260", "name": "Dworschak-punetha neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1800957", "OMIM:619955", "UMLS:C5677017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859261", "name": "Attention deficit-hyperactivity disorder 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1808030", "OMIM:619957", "UMLS:C5677018"]}
{"category": ["biolink:Disease"], "description": "A rare congenital disease caused by a mutation in the UBA2 gene, charcterized by scalp defects, digital and skeletal anomalies, early growth deficiency, and neurodevelopmental delay. Ectrodactyly presents in some cases.", "id": "MONDO:0859262", "name": "Acces syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome", "aplasia cutis congenita with ectrodactyly skeletal syndrome"], "xref": ["MEDGEN:1804308", "OMIM:619959", "UMLS:C5677019"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859263", "name": "Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1811329", "OMIM:619964", "UMLS:C5575272"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859264", "name": "Congenital myopathy 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026683", "MEDGEN:462881", "OMIM:619967", "UMLS:C3151531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859265", "name": "Neurodevelopmental disorder with epilepsy and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823957", "OMIM:619971", "UMLS:C5774184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859266", "name": "Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028077", "MEDGEN:1823958", "OMIM:619972", "UMLS:C5774185"]}
{"category": ["biolink:Disease"], "description": "An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma.", "id": "MONDO:0859267", "name": "Tumor predisposition syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["MANS", "MBD4-associated neoplasia syndrome", "MBD4-related recessive tumor predisposition syndrome", "TPDS2"], "xref": ["GARD:0026684", "MEDGEN:1823959", "OMIM:619975", "Orphanet:661526", "UMLS:C5774186"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859271", "name": "Glycosylphosphatidylinositol biosynthesis defect 25", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823964", "OMIM:619985", "UMLS:C5774191"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859272", "name": "Neurodevelopmental disorder with speech delay and variable ocular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823967", "OMIM:619989", "UMLS:C5774194"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859273", "name": "Liver disease, severe congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823968", "OMIM:619991", "UMLS:C5774195"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859274", "name": "Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823969", "OMIM:619995", "UMLS:C5774196"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859275", "name": "Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823970", "OMIM:620001", "UMLS:C5774197"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859276", "name": "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823971", "OMIM:620005", "UMLS:C5774198"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859277", "name": "Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823972", "OMIM:620007", "UMLS:C5774199"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859278", "name": "Keratoderma-ichthyosis-deafness syndrome, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823973", "OMIM:620009", "UMLS:C5774200"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859279", "name": "Spinal muscular atrophy, distal, autosomal recessive, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DSMA6"], "xref": ["DOID:0081425", "GARD:0026685", "MEDGEN:1823974", "OMIM:620011", "UMLS:C5774201"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859280", "name": "Developmental delay, hypotonia, and impaired language", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070420", "MEDGEN:1823975", "OMIM:620012", "UMLS:C5774202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859281", "name": "Intellectual developmental disorder with autism and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823979", "OMIM:620021", "UMLS:C5774206"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859282", "name": "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823981", "OMIM:620023", "UMLS:C5774208"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859283", "name": "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823982", "OMIM:620024", "UMLS:C5774209"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859285", "name": "Neurodevelopmental disorder with microcephaly, short stature, and speech delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823984", "OMIM:620027", "UMLS:C5774211"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859286", "name": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070536", "MEDGEN:1823986", "OMIM:620029", "UMLS:C5774213"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859287", "name": "Neurodevelopmental disorder with microcephaly, hypotonia, and absent language", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823989", "OMIM:620038", "UMLS:C5774216"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859288", "name": "Bone marrow failure and diabetes mellitus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823991", "OMIM:620044", "UMLS:C5774218"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859289", "name": "Intestinal dysmotility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823992", "OMIM:620045", "UMLS:C5774219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859290", "name": "Familial apolipoprotein gene cluster deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026686", "MEDGEN:1824091", "OMIM:620058", "UMLS:C5774318"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859292", "name": "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823997", "OMIM:620065", "UMLS:C5774224"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859293", "name": "Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823998", "OMIM:620066", "UMLS:C5774225"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.", "id": "MONDO:0859295", "name": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DPH5-related diphthamide-deficiency syndrome"], "xref": ["DOID:0070479", "MEDGEN:1824001", "OMIM:620070", "UMLS:C5774228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859296", "name": "Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081324", "MEDGEN:1824002", "OMIM:620071", "UMLS:C5774229"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859297", "name": "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027149", "MEDGEN:1824004", "OMIM:620073", "Orphanet:662189", "UMLS:C5774231"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859298", "name": "Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0010565", "MEDGEN:1824005", "OMIM:620075", "Orphanet:698085", "UMLS:C5774232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859300", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["neuronopathy, distal hereditary motor, type X"], "xref": ["DOID:0081399", "GARD:0026687", "MEDGEN:1824007", "OMIM:620080", "UMLS:C5774234"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859301", "name": "Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027077", "MEDGEN:1824008", "OMIM:620083", "Orphanet:662207", "UMLS:C5774235"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859302", "name": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824010", "OMIM:620085", "UMLS:C5774237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859303", "name": "Intellectual developmental disorder with ocular anomalies and distinctive facial features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081301", "MEDGEN:1824011", "OMIM:620086", "UMLS:C5774238"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859304", "name": "Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027311", "MEDGEN:1824013", "OMIM:620089", "UMLS:C5774240"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859305", "name": "Neurodevelopmental disorder with eye movement abnormalities and ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081275", "MEDGEN:1824014", "OMIM:620094", "UMLS:C5774241"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859306", "name": "Developmental delay with variable intellectual disability and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824015", "OMIM:620098", "UMLS:C5774242"]}
{"category": ["biolink:Disease"], "description": "A form of cleidocranial dysplasia caused by a variation in the CBFB gene, characterized by clavicular anomalies (varying from unilateral 'clavicle bipartita' to bilateral clavicular aplasia), dental anomalies (delayed or absent deciduous tooth eruption and supernumerary teeth), skull abnormalities (maxillary hypoplasia and delayed closure of fontanels), and additional bone anomalies (delayed bone age, reduced length of distal phalanges, and pseudoepiphyses of the metacarpals/metatarsals).", "id": "MONDO:0859307", "name": "Cleidocranial dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CBFB-related cleidocranial dysplasia", "CCD2"], "xref": ["MEDGEN:1824016", "OMIM:620099", "UMLS:C5774243"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859308", "name": "Retinitis pigmentosa 95", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061112", "GARD:0026688", "MEDGEN:1824017", "OMIM:620102", "UMLS:C5774244"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859309", "name": "Spastic paraplegia 88, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070457", "GARD:0026689", "MEDGEN:1824020", "OMIM:620106", "UMLS:C5774247"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859310", "name": "Orofaciodigital syndrome 19", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060960", "GARD:0026690", "MEDGEN:1824021", "OMIM:620107", "UMLS:C5774248"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859311", "name": "Charcot-marie-tooth disease, demyelinating, type 1j", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026691", "MEDGEN:1824022", "OMIM:620111", "UMLS:C5774249"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859312", "name": "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824024", "OMIM:620113", "UMLS:C5774251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859313", "name": "Neurodevelopmental disorder with speech impairment and with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824025", "OMIM:620114", "UMLS:C5774252"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859314", "name": "Developmental and epileptic encephalopathy 108", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070394", "GARD:0026692", "MEDGEN:1824026", "OMIM:620115", "UMLS:C5774253"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859317", "name": "Pseudohypoaldosteronism, type ib2, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026693", "MEDGEN:1824028", "OMIM:620125", "UMLS:C5774255"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859318", "name": "Pseudohypoaldosteronism, type ib3, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026694", "MEDGEN:1824029", "OMIM:620126", "UMLS:C5774256"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859319", "name": "Dyskeratosis congenita, autosomal recessive 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026695", "MEDGEN:1824030", "OMIM:620133", "UMLS:C5774257"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859320", "name": "Mitochondrial complex i deficiency, nuclear type 39", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026696", "MEDGEN:1824031", "OMIM:620135", "UMLS:C5774258"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRH gene.", "id": "MONDO:0859321", "name": "Mitochondrial complex iii deficiency, nuclear type 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026697", "MEDGEN:1824032", "OMIM:620137", "UMLS:C5774259"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859322", "name": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061183", "MEDGEN:1824033", "OMIM:620138", "UMLS:C5774260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859323", "name": "Combined oxidative phosphorylation deficiency 56", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070429", "GARD:0026698", "MEDGEN:1824034", "OMIM:620139", "UMLS:C5774261"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859324", "name": "Developmental delay, language impairment, and ocular abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027150", "MEDGEN:1824035", "OMIM:620141", "Orphanet:662762", "UMLS:C5774262"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859325", "name": "Developmental and epileptic encephalopathy 109", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070378", "GARD:0026699", "MEDGEN:1824036", "OMIM:620145", "UMLS:C5774263"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859327", "name": "Developmental and epileptic encephalopathy 110", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070395", "GARD:0026700", "MEDGEN:1824038", "OMIM:620149", "UMLS:C5774265"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859328", "name": "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060972", "GARD:0026701", "MEDGEN:1824039", "OMIM:620152", "UMLS:C5774266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859329", "name": "Mosaic variegated aneuploidy syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["DOID:0060981", "GARD:0026702", "MEDGEN:1824040", "OMIM:620153", "UMLS:C5774267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859330", "name": "Oocyte maturation defect 13", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824041", "OMIM:620154", "UMLS:C5774268"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859331", "name": "Rabin-pappas syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824042", "OMIM:620155", "UMLS:C5774269"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859332", "name": "Cortical dysplasia, complex, with other brain malformations 11", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061142", "MEDGEN:1824043", "OMIM:620156", "UMLS:C5774270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859333", "name": "Intellectual developmental disorder, autosomal dominant 70", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061043", "MEDGEN:1824044", "OMIM:620157", "UMLS:C5774271"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859334", "name": "Spinocerebellar ataxia 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026703", "MEDGEN:1824045", "OMIM:620158", "UMLS:C5774272"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859335", "name": "Congenital myopathy 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081347", "GARD:0026704", "MEDGEN:1824046", "OMIM:620161", "UMLS:C5774273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859336", "name": "Muscular dystrophy, congenital, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824047", "OMIM:620166", "UMLS:C5774274"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859337", "name": "Combined oxidative phosphorylation deficiency 57", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070430", "GARD:0026705", "MEDGEN:1824048", "OMIM:620167", "UMLS:C5774275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859338", "name": "Spermatogenic failure 78", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070577", "MEDGEN:1824049", "OMIM:620170", "UMLS:C5774276"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859339", "name": "Tooth agenesis, selective, 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026706", "MEDGEN:1824050", "OMIM:620173", "UMLS:C5774277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859340", "name": "Spinocerebellar ataxia 27b, late-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0061137", "GARD:0026707", "MEDGEN:1824051", "OMIM:620174", "Orphanet:675216", "UMLS:C5774278"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859341", "name": "Hypotrichosis 15", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060968", "MEDGEN:1824052", "OMIM:620177", "UMLS:C5774279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859342", "name": "Microcephaly 30, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051041", "GARD:0026708", "MEDGEN:1824053", "OMIM:620183", "UMLS:C5774280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859346", "name": "Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["DOID:0060982", "GARD:0026709", "MEDGEN:1824057", "OMIM:620189", "UMLS:C5774284"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859347", "name": "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824058", "OMIM:620191", "UMLS:C5774285"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859350", "name": "Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824061", "OMIM:620194", "UMLS:C5774288"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859351", "name": "Obesity and hypopigmentation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824062", "OMIM:620195", "UMLS:C5774289"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859352", "name": "Spermatogenic failure 79", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070578", "MEDGEN:1824063", "OMIM:620196", "UMLS:C5774290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859353", "name": "Ciliary dyskinesia, primary, 49, without situs inversus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026710", "MEDGEN:1824064", "OMIM:620197", "UMLS:C5774291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859354", "name": "Thyroid hormone metabolism, abnormal, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824065", "OMIM:620198", "UMLS:C5774292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859355", "name": "Inflammatory poikiloderma with hair abnormalities and acral keratoses", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070510", "GARD:0026711", "MEDGEN:1824066", "OMIM:620199", "UMLS:C5774293"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859356", "name": "Congenital disorder of glycosylation, type iiy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051052", "GARD:0026712", "MEDGEN:1824067", "OMIM:620200", "UMLS:C5774294"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859357", "name": "Congenital disorder of glycosylation, type iiz", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051053", "GARD:0026713", "MEDGEN:1824068", "OMIM:620201", "UMLS:C5774295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859358", "name": "Cardiomyopathy, dilated, 2h", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026714", "MEDGEN:1824069", "OMIM:620203", "UMLS:C5774296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859360", "name": "Spinocerebellar ataxia, autosomal recessive 33", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070414", "GARD:0026715", "MEDGEN:1824070", "OMIM:620208", "UMLS:C5774297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859361", "name": "Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824071", "OMIM:620210", "UMLS:C5774298"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859362", "name": "Hyperinsulinemic hypoglycemia, familial, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081328", "GARD:0026716", "MEDGEN:1824072", "OMIM:620211", "UMLS:C5774299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859363", "name": "Spastic paraplegia 79a, autosomal dominant, with ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070455", "GARD:0026717", "MEDGEN:1824073", "OMIM:620221", "UMLS:C5774300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859364", "name": "Spermatogenic failure 80", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070579", "MEDGEN:1824074", "OMIM:620222", "UMLS:C5774301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859365", "name": "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028078", "MEDGEN:1840880", "OMIM:620224", "UMLS:C5830244"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859366", "name": "Hearing loss, autosomal dominant 85", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070605", "GARD:0026718", "MEDGEN:1824075", "OMIM:620227", "UMLS:C5774302"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859367", "name": "Retinitis pigmentosa 96", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061104", "GARD:0026719", "MEDGEN:1824076", "OMIM:620228", "UMLS:C5774303"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859368", "name": "Short qt syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026720", "MEDGEN:1824077", "OMIM:620231", "UMLS:C5774304"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859369", "name": "Joint contractures, osteochondromas, and b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824078", "OMIM:620232", "UMLS:C5774305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859370", "name": "Respiratory infections, recurrent, and failure to thrive with or without diarrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1824079", "OMIM:620233", "UMLS:C5774306"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859372", "name": "Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026721", "MEDGEN:1824081", "OMIM:620236", "UMLS:C5774308"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859373", "name": "Intellectual developmental disorder, autosomal recessive 78", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026722", "MEDGEN:1840905", "OMIM:620237", "UMLS:C5830269"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859374", "name": "Hearing loss, autosomal recessive 120", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070674", "GARD:0026723", "MEDGEN:1824082", "OMIM:620238", "UMLS:C5774309"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859375", "name": "Developmental delay with hypotonia, myopathy, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840906", "OMIM:620240", "UMLS:C5830270"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859377", "name": "Neurodevelopmental disorder with poor growth and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081444", "MEDGEN:1840909", "OMIM:620242", "UMLS:C5830273"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859378", "name": "Leukodystrophy, hypomyelinating, 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070401", "GARD:0026724", "MEDGEN:1840911", "OMIM:620243", "UMLS:C5830275"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859379", "name": "Lymphatic malformation 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026725", "MEDGEN:1840915", "OMIM:620244", "UMLS:C5830279"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859380", "name": "Episodic kinesigenic dyskinesia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060944", "GARD:0026726", "MEDGEN:1840916", "OMIM:620245", "UMLS:C5830280"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859381", "name": "Cardiomyopathy, dilated, 100", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026727", "MEDGEN:1840927", "OMIM:620247", "UMLS:C5830291"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859382", "name": "Cataract 50 with or without glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840935", "OMIM:620253", "UMLS:C5830299"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859383", "name": "Ichthyosis hystrix", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["GARD:0026728", "MEDGEN:75527", "OMIMPS:146590", "UMLS:C0263580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859390", "name": "Epilepsy, x-linked, with or without impaired intellectual development and dysmorphic features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026729", "OMIMPS:300491"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859393", "name": "Atelis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:620184"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859477", "name": "Spermatogenic failure, x-linked, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070596", "MEDGEN:1840194", "OMIM:301099", "UMLS:C5829558"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859478", "name": "Spermatogenic failure, x-linked, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070597", "MEDGEN:1840198", "OMIM:301101", "UMLS:C5829562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859514", "name": "Congenital myopathy 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081350", "GARD:0026730", "MEDGEN:1840919", "OMIM:620246", "UMLS:C5830283"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859515", "name": "Congenital myopathy 10b, mild variant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081345", "GARD:0026731", "MEDGEN:762102", "OMIM:620249", "UMLS:C3541476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859516", "name": "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840932", "OMIM:620250", "UMLS:C5830296"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859517", "name": "Congenital myopathy 2b, severe infantile, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081339", "GARD:0026732", "MEDGEN:1840936", "OMIM:620265", "UMLS:C5830300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859518", "name": "Leukodystrophy, hypomyelinating, 26, with chondrodysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070403", "GARD:0026733", "MEDGEN:1840948", "OMIM:620269", "UMLS:C5830312"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859519", "name": "Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840955", "OMIM:620270", "UMLS:C5830319"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene.", "id": "MONDO:0859520", "name": "Mitochondrial complex iv deficiency, nuclear type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070485", "GARD:0026734", "MEDGEN:1840958", "OMIM:620275", "UMLS:C5830322"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859521", "name": "Oocyte maturation defect 14", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840962", "OMIM:620276", "UMLS:C5830326"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859522", "name": "Spermatogenic failure 81", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070580", "MEDGEN:1840965", "OMIM:620277", "UMLS:C5830329"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859523", "name": "Congenital myopathy 2c, severe infantile, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081340", "GARD:0026735", "MEDGEN:1840969", "OMIM:620278", "UMLS:C5830333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859524", "name": "Hearing loss, autosomal dominant 86", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070610", "GARD:0026736", "MEDGEN:1840976", "OMIM:620280", "UMLS:C5830340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859525", "name": "Hearing loss, autosomal dominant 87", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070606", "GARD:0026737", "MEDGEN:1840978", "OMIM:620281", "UMLS:C5830342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859526", "name": "Immunodeficiency 109 with lymphoproliferation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0061078", "GARD:0027396", "MEDGEN:1840982", "OMIM:620282", "Orphanet:664726", "UMLS:C5830346"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859527", "name": "Hearing loss, autosomal dominant 88", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070611", "GARD:0026738", "MEDGEN:1840991", "OMIM:620283", "UMLS:C5830355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859528", "name": "Hearing loss, autosomal dominant 89", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070612", "GARD:0026739", "MEDGEN:1840993", "OMIM:620284", "UMLS:C5830357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859529", "name": "Amyotrophic lateral sclerosis 27, juvenile", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081381", "GARD:0026740", "MEDGEN:1840995", "OMIM:620285", "UMLS:C5830359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859530", "name": "Myopathy, sarcoplasmic body", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026741", "MEDGEN:1840998", "OMIM:620286", "UMLS:C5830362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859531", "name": "Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841001", "OMIM:620292", "UMLS:C5830365"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859532", "name": "Congenital heart defects, multiple types, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841003", "OMIM:620294", "UMLS:C5830367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859564", "name": "Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026742", "MEDGEN:1823952", "OMIM:301091", "UMLS:C5774178"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859565", "name": "Atrioventricular septal defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026743", "MEDGEN:501123", "OMIM:606215", "UMLS:C1389018"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859567", "name": "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081125", "MEDGEN:1803802", "OMIM:616994", "UMLS:C5676895"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859568", "name": "Macular dystrophy, retinal, 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070441", "GARD:0026744", "MEDGEN:1823960", "OMIM:619977", "UMLS:C5774187"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859569", "name": "Braddock-carey syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823961", "OMIM:619980", "UMLS:C5774188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859570", "name": "Braddock-carey syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823962", "OMIM:619981", "UMLS:C5774189"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859571", "name": "Diaphragmatic hernia 4, with cardiovascular defects", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026745", "MEDGEN:1823983", "OMIM:620025", "UMLS:C5774210"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859572", "name": "Cardiac valvular dysplasia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1823999", "OMIM:620067", "UMLS:C5774226"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859573", "name": "Bent bone dysplasia syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0060993", "GARD:0026746", "MEDGEN:1824006", "OMIM:620076", "UMLS:C5774233"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859574", "name": "Ichthyosis, annular epidermolytic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026747", "MEDGEN:1824037", "OMIM:620148", "UMLS:C5774264"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859575", "name": "Atelis syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026748", "MEDGEN:1824054", "OMIM:620184", "UMLS:C5774281"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859576", "name": "Atelis syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026749", "MEDGEN:1824055", "OMIM:620185", "UMLS:C5774282"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859577", "name": "Lacrimoauriculodentodigital syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081371", "GARD:0026750", "MEDGEN:1824059", "OMIM:620192", "UMLS:C5774286"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859578", "name": "Lacrimoauriculodentodigital syndrome 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081372", "GARD:0026751", "MEDGEN:1824060", "OMIM:620193", "UMLS:C5774287"]}
{"category": ["biolink:Disease"], "description": "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.", "id": "MONDO:0859588", "name": "Keratosis pilaris atrophicans faciei", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080752", "GARD:0026752"]}
{"category": ["biolink:Disease"], "description": "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.", "id": "MONDO:0859591", "name": "Childhood low-grade glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080830", "GARD:0026753", "MEDGEN:1861125", "NCIT:C202299", "UMLS:C5908420"]}
{"category": ["biolink:Disease"], "description": "An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).", "id": "MONDO:0859592", "name": "Idh-mutant and 1p/19q-codeleted oligodendroglioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080882", "GARD:0026754", "MEDGEN:926090", "NCIT:C129318", "UMLS:C4288558"]}
{"category": ["biolink:Disease"], "description": "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.", "id": "MONDO:0859597", "name": "Cns neuroblastoma with foxr2 activation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080906", "GARD:0026755", "NCIT:C186547"]}
{"category": ["biolink:Disease"], "description": "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.", "id": "MONDO:0859598", "name": "Erythroleukemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080916", "GARD:0026756", "MEDGEN:1614281", "NCIT:C7152", "UMLS:C4520840"]}
{"category": ["biolink:Disease"], "description": "A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.", "id": "MONDO:0859614", "name": "Diffuse low-grade glioma, mapk pathway–altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081260", "GARD:0026757", "NCIT:C185218"]}
{"category": ["biolink:Disease"], "description": "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.", "id": "MONDO:0859615", "name": "Diffuse astrocytoma, myb- or mybl1-altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081279", "GARD:0026758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859689", "name": "Hepatobiliary benign neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:3117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859690", "name": "Malignant cystadenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:60004"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859692", "name": "Immune-mediated cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022494", "MEDGEN:1814462", "Orphanet:623638", "UMLS:C5680410"]}
{"category": ["biolink:Disease"], "description": "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.", "id": "MONDO:0859747", "name": "Grade i lymphomatoid granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081308", "GARD:0026759", "MEDGEN:83443", "NCIT:C7931", "UMLS:C0279065"]}
{"category": ["biolink:Disease"], "description": "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.", "id": "MONDO:0859748", "name": "Grade ii lymphomatoid granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081309", "GARD:0026760", "MEDGEN:167833", "NCIT:C7932", "UMLS:C0862090"]}
{"category": ["biolink:Disease"], "description": "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.", "id": "MONDO:0859749", "name": "Grade iii lymphomatoid granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081310", "GARD:0026761", "MEDGEN:78928", "NCIT:C7933", "UMLS:C0279067"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859763", "name": "Mosaic neurofibromatosis type 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026764", "MEDGEN:1843428", "Orphanet:634461", "UMLS:C5782097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859764", "name": "Mosaic nf2-related schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026765", "MEDGEN:1843426", "Orphanet:634475", "UMLS:C5816778"]}
{"category": ["biolink:Disease"], "id": "MONDO:0859765", "name": "Mosaic schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026766", "MEDGEN:1843393", "Orphanet:634492", "UMLS:C5816779"]}
{"category": ["biolink:Disease"], "description": "A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.", "id": "MONDO:0956962", "name": "Benign teratoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080602", "GARD:0026767", "MEDGEN:361206", "NCIT:C67107", "UMLS:C1879828"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.", "id": "MONDO:0956964", "name": "Medulloblastoma shh activated and tp53 mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080704", "GARD:0026768", "NCIT:C129442"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.", "id": "MONDO:0956965", "name": "Medulloblastoma shh activated and tp53 wild-type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080705", "GARD:0026769", "NCIT:C129443"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.", "id": "MONDO:0956966", "name": "Medulloblastoma non-wnt/non-shh group 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080707", "GARD:0026770", "MEDGEN:1389944", "NCIT:C129445", "UMLS:C4330665"]}
{"category": ["biolink:Disease"], "description": "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.", "id": "MONDO:0956967", "name": "Medulloblastoma non-wnt/non-shh group 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080708", "GARD:0026771", "MEDGEN:1377534", "NCIT:C129446", "UMLS:C4330666"]}
{"category": ["biolink:Disease"], "description": "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.", "id": "MONDO:0956969", "name": "Chronic inducible urticaria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080748", "MEDGEN:1678519", "UMLS:C5197720"]}
{"category": ["biolink:Disease"], "description": "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.", "id": "MONDO:0956971", "name": "Intermittent asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080812", "MEDGEN:740576", "UMLS:C1740754"]}
{"category": ["biolink:Disease"], "description": "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.", "id": "MONDO:0956975", "name": "T2-high asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080817"]}
{"category": ["biolink:Disease"], "description": "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils  40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.", "id": "MONDO:0956976", "name": "T2-low asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080818"]}
{"category": ["biolink:Disease"], "description": "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.", "id": "MONDO:0956977", "name": "Near-fatal asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080823", "MEDGEN:1673783", "UMLS:C5192201"]}
{"category": ["biolink:Disease"], "description": "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.", "id": "MONDO:0956979", "name": "Nocturnal asthma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080826", "MEDGEN:696950", "UMLS:C1273489"]}
{"category": ["biolink:Disease"], "description": "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.", "id": "MONDO:0956980", "name": "Vascular parkinsonism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080856", "ICD10CM:G21.4", "MEDGEN:581453", "UMLS:C0393568", "icd11.foundation:1852145464"]}
{"category": ["biolink:Disease"], "description": "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.", "id": "MONDO:0956981", "name": "Astrocytoma, idh-mutant, grade 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080877", "GARD:0026772", "MEDGEN:1718223", "NCIT:C167335", "UMLS:C5238471"]}
{"category": ["biolink:Disease"], "description": "An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.", "id": "MONDO:0956983", "name": "Pleomorphic xanthoastrocytoma braf mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080881", "GARD:0026773"]}
{"category": ["biolink:Disease"], "description": "A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.", "id": "MONDO:0956984", "name": "Yap1-mamld1 fusion-positive supratentorial ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080891", "GARD:0026774", "MEDGEN:1810688", "NCIT:C186355", "UMLS:C5670480"]}
{"category": ["biolink:Disease"], "description": "A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.", "id": "MONDO:0956985", "name": "Lipofibromatosis-like neural tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080894"]}
{"category": ["biolink:Disease"], "description": "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.", "id": "MONDO:0956986", "name": "Solitary fibrous tumor/hemangiopericytoma", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0080897"]}
{"category": ["biolink:Disease"], "description": "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.", "id": "MONDO:0956987", "name": "Ezb-myc+ diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081070", "GARD:0026775"]}
{"category": ["biolink:Disease"], "description": "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.", "id": "MONDO:0956988", "name": "Ezb-myc- diffuse large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081071", "GARD:0026776"]}
{"category": ["biolink:Disease"], "description": "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.", "id": "MONDO:0956989", "name": "Cic-rearranged sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081250", "MEDGEN:859358", "NCIT:C120224", "UMLS:C3899764"]}
{"category": ["biolink:Disease"], "description": "A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.", "id": "MONDO:0956990", "name": "Supratentorial ependymoma, zfta fusion–positive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081252", "GARD:0026777", "NCIT:C186350"]}
{"category": ["biolink:Disease"], "description": "A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.", "id": "MONDO:0956991", "name": "Supratentorial ependymoma, yap1 fusion–positive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081253", "GARD:0026778", "NCIT:C186351"]}
{"category": ["biolink:Disease"], "description": "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.", "id": "MONDO:0956992", "name": "Posterior fossa group a ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081254", "GARD:0026779", "MEDGEN:1810123", "NCIT:C186450", "UMLS:C5670548"]}
{"category": ["biolink:Disease"], "description": "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.", "id": "MONDO:0956993", "name": "Posterior fossa group b ependymoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081255", "GARD:0026780", "NCIT:C186451"]}
{"category": ["biolink:Disease"], "description": "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.", "id": "MONDO:0956994", "name": "Astrocytoma, idh-mutant, grade 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081256", "GARD:0026781", "MEDGEN:927224", "NCIT:C129271", "UMLS:C4289692"]}
{"category": ["biolink:Disease"], "description": "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.", "id": "MONDO:0956995", "name": "Astrocytoma, idh-mutant, grade 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081257", "GARD:0026782", "MEDGEN:927513", "NCIT:C129290", "UMLS:C4289981"]}
{"category": ["biolink:Disease"], "description": "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).", "id": "MONDO:0956996", "name": "Oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081281", "GARD:0026783"]}
{"category": ["biolink:Disease"], "description": "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.", "id": "MONDO:0956997", "name": "Oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081282", "GARD:0026784"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957003", "name": "Hereditary neuro-ophthalmological disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic neuro-ophthalmological disease"], "xref": ["GARD:0020309", "MEDGEN:1842469", "Orphanet:183616", "UMLS:C5680540"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957008", "name": "Hereditary cerebral malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic cerebral malformation"], "xref": ["GARD:0021004", "MEDGEN:1842500", "Orphanet:269553", "UMLS:C5679762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957018", "name": "Autoinflammatory syndrome of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1842803", "Orphanet:319719", "UMLS:C5680962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957048", "name": "Isolated macular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022097", "MEDGEN:1842262", "Orphanet:519302", "UMLS:C5681367"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957097", "name": "Hereditary hemolytic uremic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["genetic hemolytic uremic syndrome"], "xref": ["GARD:0022330", "MEDGEN:1825935", "OMIMPS:235400", "Orphanet:576742", "UMLS:C5680355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957111", "name": "Neurological muscular channelopathy due to a genetic sodium channel defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019563", "MEDGEN:1842444", "Orphanet:98738", "UMLS:C5681681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957112", "name": "Neurological muscular channelopathy due to a genetic chloride channel defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019564", "MEDGEN:1843259", "Orphanet:98739", "UMLS:C5681687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957113", "name": "Neurological muscular channelopathy due to a genetic calcium channel defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019565", "MEDGEN:1842522", "Orphanet:98740", "UMLS:C5681686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957114", "name": "Neurological muscular channelopathy due to a genetic potassium channel defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0019566", "MEDGEN:1842582", "Orphanet:98741", "UMLS:C5681685"]}
{"category": ["biolink:Disease"], "description": "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.", "id": "MONDO:0957196", "name": "Diffuse midline glioma, h3 k27m-mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080684", "GARD:0026785", "MEDGEN:927220", "NCIT:C129309", "UMLS:C4289688"]}
{"category": ["biolink:Disease"], "description": "A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.", "id": "MONDO:0957197", "name": "Diffuse glioma, h3 g34 mutant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080880", "GARD:0026786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957202", "name": "Spermatogenic failure, x-linked, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070598", "MEDGEN:1840203", "OMIM:301106", "UMLS:C5829567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957203", "name": "Intellectual developmental disorder, x-linked 111", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060929", "GARD:0026787", "MEDGEN:1840204", "OMIM:301107", "UMLS:C5829568"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957204", "name": "Autoinflammation with pulmonary and cutaneous vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841007", "OMIM:620296", "UMLS:C5830371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957208", "name": "Pituitary hormone deficiency, combined or isolated, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061018", "GARD:0026788", "MEDGEN:1841011", "OMIM:620303", "UMLS:C5830375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957210", "name": "Neurooculorenal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841013", "OMIM:620305", "UMLS:C5830377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957211", "name": "Neurodegeneration and seizures due to copper transport defect", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027312", "MEDGEN:1841021", "OMIM:620306", "UMLS:C5830385"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957215", "name": "Congenital myopathy 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081352", "GARD:0026789", "MEDGEN:1841029", "OMIM:620310", "UMLS:C5830393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957216", "name": "Premature ovarian failure 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026790", "MEDGEN:1841035", "OMIM:620311", "UMLS:C5830399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957217", "name": "Cortical dysplasia, complex, with other brain malformations 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061141", "MEDGEN:1841043", "OMIM:620316", "UMLS:C5830407"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957218", "name": "Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841049", "OMIM:620317", "UMLS:C5830413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957220", "name": "Oocyte/zygote/embryo maturation arrest 17", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841054", "OMIM:620319", "UMLS:C5830418"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957224", "name": "Congenital myopathy 21 with early respiratory failure", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081353", "GARD:0026792", "MEDGEN:1841060", "OMIM:620326", "UMLS:C5830424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957225", "name": "Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026793", "MEDGEN:1841069", "OMIM:620327", "UMLS:C5830433"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957228", "name": "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061044", "MEDGEN:1841073", "OMIM:620330", "UMLS:C5830437"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957229", "name": "Hatipoglu immunodeficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841075", "OMIM:620331", "UMLS:C5830439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957230", "name": "Oocyte/zygote/embryo maturation arrest 18", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841077", "OMIM:620332", "UMLS:C5830441"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957231", "name": "Oocyte/zygote/embryo maturation arrest 19", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841078", "OMIM:620333", "UMLS:C5830442"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957240", "name": "Cone-rod dystrophy 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081449", "GARD:0026794", "MEDGEN:1841082", "OMIM:620342", "UMLS:C5830446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957247", "name": "Congenital myopathy 22a, classic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081354", "GARD:0026795", "MEDGEN:1841089", "OMIM:620351", "UMLS:C5830453"]}
{"category": ["biolink:Disease"], "description": "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene.", "id": "MONDO:0957248", "name": "Developmental and epileptic encephalopathy, 31b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE31B", "developmental and epileptic encephalopathy 31B, autosomal recessive"], "xref": ["DOID:0070376", "GARD:0026796", "MEDGEN:1841095", "OMIM:620352", "UMLS:C5830459"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957249", "name": "Spermatogenic failure 82", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070581", "MEDGEN:1841104", "OMIM:620353", "UMLS:C5830468"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957250", "name": "Spermatogenic failure 83", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070582", "MEDGEN:1841106", "OMIM:620354", "UMLS:C5830470"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957252", "name": "Ciliary dyskinesia, primary, 50", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026797", "MEDGEN:1841109", "OMIM:620356", "UMLS:C5830473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957253", "name": "Diarrhea 13", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841113", "OMIM:620357", "UMLS:C5830477"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957254", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 4a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070461", "GARD:0026798", "MEDGEN:1841116", "OMIM:620358", "UMLS:C5830480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957255", "name": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070464", "GARD:0026799", "MEDGEN:1841118", "OMIM:620359", "UMLS:C5830482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957260", "name": "Combined low ldl and fibrinogen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841120", "OMIM:620364", "UMLS:C5830484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957261", "name": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026800", "MEDGEN:1841121", "OMIM:620365", "UMLS:C5830485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957262", "name": "Osteopetrosis, autosomal recessive 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026801", "MEDGEN:1841123", "OMIM:620366", "UMLS:C5830487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957263", "name": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026802", "MEDGEN:1841132", "OMIM:620367", "UMLS:C5830496"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957264", "name": "Cerebroretinal microangiopathy with calcifications and cysts 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026803", "MEDGEN:1841133", "OMIM:620368", "UMLS:C5830497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957265", "name": "Congenital myopathy 22b, severe fetal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081355", "GARD:0026804", "MEDGEN:1841137", "OMIM:620369", "UMLS:C5830501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957266", "name": "Recon progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028079", "MEDGEN:1841140", "OMIM:620370", "UMLS:C5830504"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage.", "id": "MONDO:0957267", "name": "Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841145", "OMIM:620371", "UMLS:C5830509"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957268", "name": "Hypersulfaturia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841147", "OMIM:620372", "UMLS:C5830511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957270", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0061130", "GARD:0026805", "MEDGEN:1841154", "OMIM:620375", "Orphanet:653725", "UMLS:C5830518"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957271", "name": "Autoinflammatory disease, systemic, with vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026806", "MEDGEN:1841161", "OMIM:620376", "UMLS:C5830525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957273", "name": "Charcot-marie-tooth disease, dominant intermediate a", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026807", "MEDGEN:376235", "OMIM:620378", "UMLS:C1847896"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957274", "name": "Spastic paraplegia 89, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070458", "GARD:0026808", "MEDGEN:1841167", "OMIM:620379", "UMLS:C5830531"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957278", "name": "Oocyte/zygote/embryo maturation arrest 20", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841175", "OMIM:620383", "UMLS:C5830539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957279", "name": "Auditory neuropathy, autosomal dominant 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026809", "MEDGEN:1841178", "OMIM:620384", "UMLS:C5830542"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957281", "name": "Nemaline myopathy 5b, autosomal recessive, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081374", "GARD:0026810", "MEDGEN:1841181", "OMIM:620386", "UMLS:C5830545"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957284", "name": "Nemaline myopathy 5c, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081375", "GARD:0026811", "MEDGEN:1841185", "OMIM:620389", "UMLS:C5830549"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957288", "name": "Intellectual developmental disorder, autosomal recessive 79", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026812", "MEDGEN:1841189", "OMIM:620393", "UMLS:C5830553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957294", "name": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026813", "MEDGEN:1841196", "OMIM:620400", "UMLS:C5830560"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957301", "name": "Spermatogenic failure 84", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070583", "MEDGEN:1841198", "OMIM:620409", "UMLS:C5830562"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957303", "name": "Palmoplantar keratoderma, epidermolytic, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070551", "GARD:0026814", "MEDGEN:445412", "OMIM:620411", "UMLS:C2936837"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957307", "name": "Woolly hair-skin fragility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:375148", "OMIM:620415", "UMLS:C1843292"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957308", "name": "Spastic paraplegia 90a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070459", "GARD:0026815", "MEDGEN:1841210", "OMIM:620416", "UMLS:C5830574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957309", "name": "Spastic paraplegia 90b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070460", "GARD:0026816", "MEDGEN:1841214", "OMIM:620417", "UMLS:C5830578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957314", "name": "Retinitis pigmentosa 97", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061110", "GARD:0026817", "MEDGEN:1841215", "OMIM:620422", "UMLS:C5830579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957317", "name": "Hematuria, benign familial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0111365", "MEDGEN:66039", "MESH:C562476", "OMIMPS:141200", "Orphanet:97562", "UMLS:C0241908"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957318", "name": "Nephrolithiasis, calcium oxalate", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:318935", "OMIMPS:167030", "UMLS:C1833683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957337", "name": "Isolated chorioretinal dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022096", "MEDGEN:1842795", "Orphanet:519300", "UMLS:C5681368"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957341", "name": "Secondary early-onset glaucoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0022111", "MEDGEN:1843268", "Orphanet:519331", "UMLS:C5681353"]}
{"category": ["biolink:Disease"], "description": "Any multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the GCSH gene. It is characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems.", "id": "MONDO:0957382", "name": "Multiple mitochondrial dysfunctions syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GCSH-related glycine encephalopathy"], "xref": ["GARD:0026818", "MEDGEN:1841222", "OMIM:620423", "UMLS:C5830586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957385", "name": "Dystonia 37, early-onset, with striatal lesions", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060956", "GARD:0026819", "MEDGEN:1841228", "OMIM:620427", "UMLS:C5830592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957386", "name": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081387", "MEDGEN:1841232", "OMIM:620428", "UMLS:C5830596"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957388", "name": "Autoimmune disease, multisystem, infantile-onset, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061162", "MEDGEN:1841236", "OMIM:620430", "UMLS:C5830600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957396", "name": "Ciliary dyskinesia, primary, 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026820", "MEDGEN:1841244", "OMIM:620438", "UMLS:C5830608"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.", "id": "MONDO:0957397", "name": "Intellectual developmental disorder, autosomal dominant 72", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MRD72", "SRRM2-related neurodevelopmental disorder", "autosomal dominant intellectual developmental disorder-72", "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome"], "xref": ["DOID:0061045", "GARD:0026821", "MEDGEN:1841248", "OMIM:620439", "Orphanet:652487", "UMLS:C5830612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957400", "name": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:301108"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957403", "name": "Periodic fever syndrome of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021458", "MEDGEN:1842772", "Orphanet:324939", "UMLS:C5680952"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957405", "name": "Granulomatous autoinflammatory syndrome of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021460", "MEDGEN:1842911", "Orphanet:324950", "UMLS:C5680954"]}
{"category": ["biolink:Disease"], "description": "A type 1 interferonopathy that occurs during childhood.", "id": "MONDO:0957408", "name": "Type 1 interferonopathy of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0021986", "MEDGEN:1843010", "Orphanet:481671", "UMLS:C5681250"]}
{"category": ["biolink:Disease"], "description": "A human disease caused by infection with Borna disease virus.", "id": "MONDO:0957421", "name": "Borna virus encephalitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026822", "MEDGEN:1843023", "MESH:D001890", "Orphanet:637051", "UMLS:C5816783"]}
{"category": ["biolink:Disease"], "description": "A rare acquired pituitary hormone deficieny characterized by inflammation of the pituitary gland secondary to immunotherapy for cancers treatments (such as monoclonal antibodies against cytotoxic T lymphocytes antigen, programmed cell death protein-1, and programmed cell death ligand molecules). Major clinical features include headache, fatigue, adrenal insufficiency and hypothyroidism. Patients may also have nausea and vomiting associated to the headache as well as dizziness and hot flashes. Enlargement of the pituitary gland is present in the brain imaging.", "id": "MONDO:0957423", "name": "Immunotherapy induced hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026823", "MEDGEN:1843401", "Orphanet:641350", "UMLS:C5816794"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957427", "name": "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026825", "MEDGEN:1843410", "Orphanet:641372", "UMLS:C5816790"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957428", "name": "B-lymphoblastic leukemia/lymphoma with t(17;19)", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026826", "MEDGEN:1845507", "Orphanet:641375", "UMLS:C5856321"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957430", "name": "Childhood-onset schizophrenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0004766", "MEDGEN:48576", "Orphanet:641496", "UMLS:C0036346"]}
{"category": ["biolink:Disease"], "description": "Any Cushing syndrome caused by body's prolonged overproduction of cortisol that can be dependent on or independent of adrenocorticotropic hormone (ACTH).", "id": "MONDO:0957431", "name": "Endogenous cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "synonym": ["endogenous CS"], "xref": ["GARD:0026827", "MEDGEN:1727013", "Orphanet:641613", "UMLS:C5419158"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957432", "name": "Neonatal compartment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026828", "MEDGEN:1843409", "Orphanet:641829", "UMLS:C5782100"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957433", "name": "Primary pulmonary vein stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026829", "MEDGEN:539576", "Orphanet:642071", "UMLS:C0265915"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957442", "name": "Autosomal recessive ataxia due to pex16 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026830", "MEDGEN:1843419", "Orphanet:642954", "UMLS:C5816797"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957443", "name": "Autosomal recessive ataxia due to pex2 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026831", "MEDGEN:1843414", "Orphanet:642965", "UMLS:C5816796"]}
{"category": ["biolink:Disease"], "description": "A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.", "id": "MONDO:0957451", "name": "Non-terminal myelocystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026832", "MEDGEN:1843415", "Orphanet:645340", "UMLS:C5816719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957452", "name": "Segmental arterial mediolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026833", "MEDGEN:1387331", "Orphanet:645350", "UMLS:C4517096", "icd11.foundation:1160127418"]}
{"category": ["biolink:Disease"], "description": "A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).", "id": "MONDO:0957453", "name": "True myelomeningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026834", "MEDGEN:1843418", "Orphanet:645383", "UMLS:C5816713"]}
{"category": ["biolink:Disease"], "description": "A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.", "id": "MONDO:0957454", "name": "Hemi-myelomeningocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026835", "MEDGEN:1843407", "Orphanet:645388", "UMLS:C5816710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957456", "name": "Classical dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026836", "MEDGEN:1843411", "Orphanet:645613", "UMLS:C5816707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957458", "name": "Adermatopathic dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026837", "MEDGEN:1843427", "Orphanet:645626", "UMLS:C5816708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957459", "name": "Congenital esophageal stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_upper_digestive_tract_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026838", "MEDGEN:743886", "Orphanet:645749", "UMLS:C1963580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957460", "name": "Spontaneous intestinal perforation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026839", "MEDGEN:856598", "Orphanet:645793", "UMLS:C3897004", "icd11.foundation:1355081169"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957461", "name": "Primary tuberculous lymphadenitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026840", "MEDGEN:1843412", "Orphanet:645807", "UMLS:C5816704", "icd11.foundation:870345553"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957462", "name": "Primary pulmonary tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026841", "Orphanet:645814", "icd11.foundation:882244568"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957463", "name": "Primary bone and joint tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026842", "MEDGEN:1843400", "Orphanet:645822", "UMLS:C5816705"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957464", "name": "Primary cutaneous tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026843", "MEDGEN:1843421", "Orphanet:645849", "UMLS:C5816706"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957465", "name": "Multifocal tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026844", "MEDGEN:1843417", "Orphanet:645854", "UMLS:C5816701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957466", "name": "Primary tuberculosis of the digestive system", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026845", "MEDGEN:1843420", "Orphanet:645859", "UMLS:C5816702", "icd11.foundation:1873777499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957467", "name": "Primary genito-urinary tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026846", "Orphanet:645874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957473", "name": "Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026847", "MEDGEN:1843399", "Orphanet:647681", "UMLS:C5816752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957476", "name": "Isolated persistent urogenital sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026848", "MEDGEN:1843424", "Orphanet:647794", "UMLS:C5816754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957477", "name": "Myt1l-related developmental delay-intellectual disability-obesity syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026849", "MEDGEN:1843395", "Orphanet:647799", "UMLS:C5816753"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957481", "name": "Idiopathic pregnancy-associated osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026850", "MEDGEN:1843391", "Orphanet:647823", "UMLS:C5782297"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957487", "name": "Idiopathic catatonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026851", "MEDGEN:1843416", "Orphanet:648919", "UMLS:C5816742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957494", "name": "Autoinflammatory disease, multisystem, with immune dysregulation, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026852", "MEDGEN:1840213", "OMIM:301109", "UMLS:C5829577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957495", "name": "Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026853", "MEDGEN:1840221", "OMIM:301110", "UMLS:C5829585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957496", "name": "Intellectual developmental disorder, x-linked 112", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026854", "MEDGEN:1840225", "OMIM:301111", "UMLS:C5829589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957497", "name": "Disabling pansclerotic morphea of childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081373", "MEDGEN:858243", "OMIM:620443", "UMLS:C3898649"]}
{"category": ["biolink:Disease"], "description": "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.", "id": "MONDO:0957519", "name": "Diffuse gastric cancer", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080763", "GARD:0028080"]}
{"category": ["biolink:Disease"], "description": "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.", "id": "MONDO:0957524", "name": "Cox deficiency, benign infantile mitochondrial myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081377", "GARD:0026855"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957531", "name": "Neurodevelopmental disorder with microcephaly and movement abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841260", "OMIM:620445", "UMLS:C5830624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957533", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841261", "OMIM:620447", "UMLS:C5830625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957534", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841264", "OMIM:620448", "UMLS:C5830628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957535", "name": "Immunodeficiency 112", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061079", "MEDGEN:1841269", "OMIM:620449", "UMLS:C5830633"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957536", "name": "Intellectual developmental disorder, autosomal dominant 73", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061046", "GARD:0026856", "MEDGEN:1841272", "OMIM:620450", "UMLS:C5830636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957537", "name": "Combined oxidative phosphorylation deficiency 58", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026857", "MEDGEN:1841277", "OMIM:620451", "UMLS:C5830641"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957538", "name": "Amyotrophic lateral sclerosis 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081382", "GARD:0026858", "MEDGEN:1841278", "OMIM:620452", "UMLS:C5830642"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957539", "name": "Dystonia 22, juvenile-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060966", "GARD:0026859", "MEDGEN:1841281", "OMIM:620453", "UMLS:C5830645"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957540", "name": "Congenital disorder of glycosylation, type iiaa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026860", "MEDGEN:1841287", "OMIM:620454", "UMLS:C5830651"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957541", "name": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070512", "MEDGEN:1841290", "OMIM:620455", "UMLS:C5830654"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957542", "name": "Dystonia 22, adult-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060967", "GARD:0026861", "MEDGEN:1841294", "OMIM:620456", "UMLS:C5830658"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957543", "name": "Auriculocondylar syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026862", "MEDGEN:1841295", "OMIM:620457", "UMLS:C5830659"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957544", "name": "Auriculocondylar syndrome 2b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026863", "MEDGEN:1841300", "OMIM:620458", "UMLS:C5830664"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957545", "name": "Cardiomyopathy, dilated, 2i", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026864", "MEDGEN:1841321", "OMIM:620462", "UMLS:C5830685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957553", "name": "Houge-janssens syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:616355"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957556", "name": "Congenital pulmonary vein atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026865", "MEDGEN:576417", "Orphanet:99126", "UMLS:C0344679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957560", "name": "Hearing loss, noise-induced, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["MEDGEN:414426", "OMIM:613035", "UMLS:C2751629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957561", "name": "Encephalitis, acute, infection-induced, susceptibility to, 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["MEDGEN:1846830", "OMIM:620461", "UMLS:C5882673"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957563", "name": "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1848439", "OMIM:620469", "UMLS:C5882675"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957564", "name": "Congenital smooth muscle hamartoma, with or without hemihypertrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847218", "OMIM:620470", "UMLS:C5882676"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957572", "name": "Thrombocytopenia 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026866", "MEDGEN:1844414", "OMIM:620478", "UMLS:C5882678"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957575", "name": "Amegakaryocytic thrombocytopenia, congenital, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061002", "MEDGEN:1848998", "OMIM:620481", "UMLS:C5882679"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957576", "name": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070486", "MEDGEN:1845571", "OMIM:620482", "UMLS:C5882680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957577", "name": "Variegate porphyria, childhood-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026867", "MEDGEN:1849794", "OMIM:620483", "UMLS:C5882681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957578", "name": "Thrombocytopenia 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026868", "MEDGEN:1847819", "OMIM:620484", "UMLS:C5882682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957580", "name": "Bleeding disorder, platelet-type, 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026869", "MEDGEN:1846290", "OMIM:620486", "UMLS:C5882683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957583", "name": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070513", "MEDGEN:1852093", "OMIM:620489", "UMLS:C5882684"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957584", "name": "Spermatogenic failure 85", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070584", "MEDGEN:1849976", "OMIM:620490", "UMLS:C5882685"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957588", "name": "Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847194", "OMIM:620494", "UMLS:C5882686"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957593", "name": "Spermatogenic failure 86", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070585", "MEDGEN:1847370", "OMIM:620499", "UMLS:C5882755"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957594", "name": "Spermatogenic failure 87", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070586", "MEDGEN:1852637", "OMIM:620500", "UMLS:C5882687"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957595", "name": "Ziegler-huang syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026870", "MEDGEN:1844409", "OMIM:620501", "UMLS:C5882688"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957599", "name": "Epilepsy, early-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:617290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957779", "name": "Neurodevelopmental disorder with language delay and variable cognitive abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1850358", "OMIM:620502", "UMLS:C5882689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957780", "name": "Developmental and epileptic encephalopathy 111", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026871", "MEDGEN:1846991", "OMIM:620504", "UMLS:C5882690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957783", "name": "Ichthyosis with erythrokeratoderma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026872", "MEDGEN:1852819", "OMIM:620507", "UMLS:C5882691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957786", "name": "Xerosis and growth failure with immune and pulmonary dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1848919", "OMIM:620510", "UMLS:C5882692"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957787", "name": "Fliedner-zweier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070653", "MEDGEN:1845438", "OMIM:620511", "UMLS:C5882693"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957788", "name": "Spastic paraplegia 18a, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070640", "GARD:0026873", "MEDGEN:1844217", "OMIM:620512", "UMLS:C5882694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957790", "name": "Immune dysregulation, autoimmunity, and autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847968", "OMIM:620514", "UMLS:C5848750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957791", "name": "Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1846192", "OMIM:620515", "UMLS:C5882695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957795", "name": "Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847702", "OMIM:620519", "UMLS:C5882696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957807", "name": "Hyper-ige syndrome 6, autosomal dominant, with recurrent infections", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026874", "MEDGEN:1851769", "OMIM:620532", "UMLS:C5848786"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957809", "name": "Neutropenia, severe congenital, 10, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026875", "MEDGEN:1851433", "OMIM:620534", "UMLS:C5882756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957810", "name": "Developmental delay, dysmorphic facies, and brain anomalies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0060933", "MEDGEN:1847857", "OMIM:620535", "UMLS:C5882698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957811", "name": "Alport syndrome 3b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026876", "MEDGEN:1848447", "OMIM:620536", "UMLS:C5882699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957812", "name": "Developmental and epileptic encephalopathy 112", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026877", "MEDGEN:1845523", "OMIM:620537", "UMLS:C5882700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957813", "name": "Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070643", "GARD:0026878", "MEDGEN:1846222", "OMIM:620538", "UMLS:C5882701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957815", "name": "Developmental delay with or without epilepsy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1848555", "OMIM:620540", "UMLS:C5882702"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957819", "name": "Arthrogryposis, distal, type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026879", "MEDGEN:1847896", "OMIM:620545", "UMLS:C5882704"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957820", "name": "Congenital disorder of glycosylation, type iibb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CDG IIbb", "CDGIIBB"], "xref": ["DOID:0051047", "GARD:0026880", "MEDGEN:1846347", "OMIM:620546", "UMLS:C5882705"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957821", "name": "Spermatogenic failure 88", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070587", "MEDGEN:1845113", "OMIM:620547", "UMLS:C5882706"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957822", "name": "Premature ovarian failure 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026881", "MEDGEN:1849005", "OMIM:620548", "UMLS:C5882707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957824", "name": "Optic atrophy 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026882", "MEDGEN:1851745", "OMIM:620550", "UMLS:C5882708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957825", "name": "Hearing loss, autosomal recessive 121", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070675", "GARD:0026883", "MEDGEN:1844128", "OMIM:620551", "UMLS:C5882709"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957832", "name": "Craniometadiaphyseal osteosclerosis with hip dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1844026", "OMIM:620558", "UMLS:C5882710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957870", "name": "Leukoencephalopathy with vanishing white matter 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070373", "GARD:0026884", "MEDGEN:1841040", "OMIM:620312", "UMLS:C5830404"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957871", "name": "Leukoencephalopathy with vanishing white matter 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070372", "GARD:0026885", "MEDGEN:1841041", "OMIM:620313", "UMLS:C5830405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957872", "name": "Leukoencephalopathy with vanishing white matter 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070371", "GARD:0026886", "MEDGEN:1841042", "OMIM:620314", "UMLS:C5830406"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957873", "name": "Leukoencephalopathy with vanishing white matter 5", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070367", "GARD:0026887", "MEDGEN:1830483", "OMIM:620315", "UMLS:C5779973"]}
{"category": ["biolink:Disease"], "description": "A rare autosomal recessive distal hereditary motor neuropathy caused by a mutation in the COQ7 gene, characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.", "id": "MONDO:0957874", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["COQ7-related distal hereditary motor neuropathy", "HMNR9"], "xref": ["DOID:0081428", "GARD:0026888", "MEDGEN:1850177", "OMIM:620402", "Orphanet:658778", "UMLS:C5882672"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957875", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081400", "GARD:0026889", "MEDGEN:1849676", "OMIM:620528", "UMLS:C5882697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957876", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081429", "GARD:0026890", "MEDGEN:1846713", "OMIM:620542", "UMLS:C5882703"]}
{"category": ["biolink:Disease"], "description": "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.", "id": "MONDO:0957896", "name": "Metabolic dysfunction and alcohol associated liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070508", "MEDGEN:1872127", "UMLS:C5968336"]}
{"category": ["biolink:Disease"], "description": "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.", "id": "MONDO:0957912", "name": "Organophosphate-induced delayed polyneuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["DOID:0081393", "GARD:0026891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957919", "name": "Lui-jee-baron syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1849943", "OMIM:301114", "UMLS:C5882664"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957920", "name": "Immunodeficiency 113 with autoimmunity and autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051056", "MEDGEN:1851770", "OMIM:620565", "UMLS:C5882711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957921", "name": "Cornelia de lange syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060970", "GARD:0026892", "MEDGEN:1848930", "OMIM:620568", "UMLS:C5882712"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957922", "name": "Ciliary dyskinesia, primary, 52", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026893", "MEDGEN:1852921", "OMIM:620570", "UMLS:C5882714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957928", "name": "Otosclerosis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060928", "GARD:0026894", "MEDGEN:1846918", "OMIM:620576", "UMLS:C5882715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957935", "name": "Optic atrophy 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026895", "MEDGEN:1849731", "OMIM:620583", "UMLS:C5882716"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957953", "name": "Garg-mishra progeroid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_premature_aging_syndrome", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0026896", "MEDGEN:1847272", "OMIM:620601", "UMLS:C5882717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957954", "name": "Lymphatic malformation 14", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026897", "MEDGEN:1851480", "OMIM:620602", "UMLS:C5882718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957955", "name": "Immunodeficiency 114, folate-responsive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061080", "GARD:0027152", "MEDGEN:1848890", "OMIM:620603", "UMLS:C5882719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957958", "name": "Spastic paraplegia 72b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070642", "GARD:0026898", "MEDGEN:1844131", "OMIM:620606", "UMLS:C5882720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957960", "name": "Long-olsen-distelmaier syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847052", "OMIM:620609", "UMLS:C5882721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957961", "name": "Oocyte/zygote/embryo maturation arrest 21", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1845812", "OMIM:620610", "UMLS:C5882722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957978", "name": "Optic atrophy 16", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026899", "MEDGEN:1851641", "OMIM:620629", "UMLS:C5882723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957981", "name": "Immunodeficiency 115 with autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061081", "MEDGEN:1847791", "OMIM:620632", "UMLS:C5882724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957984", "name": "Cardiomyopathy, dilated, 2j", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026900", "MEDGEN:1846005", "OMIM:620635", "UMLS:C5882725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957985", "name": "Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027313", "MEDGEN:1847831", "OMIM:620636", "UMLS:C5882726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957988", "name": "Osteogenesis imperfecta, type 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026901", "MEDGEN:1846121", "OMIM:620639", "UMLS:C5882757"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957990", "name": "Tan-almurshedi syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1848300", "OMIM:620641", "UMLS:C5882727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957991", "name": "Ciliary dyskinesia, primary, 53", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026902", "MEDGEN:1851509", "OMIM:620642", "UMLS:C5882728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957992", "name": "Combined oxidative phosphorylation deficiency 59", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026903", "MEDGEN:1845781", "OMIM:620646", "UMLS:C5882730"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957993", "name": "Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026904", "MEDGEN:1847098", "OMIM:620647", "UMLS:C5882731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957997", "name": "Diabetes, deafness, developmental delay, and short stature syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1845412", "OMIM:620651", "UMLS:C5882732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0957999", "name": "Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026905", "MEDGEN:1850178", "OMIM:620653", "UMLS:C5882733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958000", "name": "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026906", "MEDGEN:1846947", "OMIM:620654", "UMLS:C5882734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958001", "name": "Alfadhel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1845825", "OMIM:620655", "UMLS:C5882735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958005", "name": "Hoxha-aliu syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1846017", "OMIM:620662", "UMLS:C5882736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958006", "name": "Spondyloepimetaphyseal dysplasia, guo-campeau type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026907", "MEDGEN:1844202", "OMIM:620663", "UMLS:C5882737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958009", "name": "Spastic ataxia 10, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026908", "MEDGEN:1851662", "OMIM:620666", "UMLS:C5882738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958011", "name": "Immunodeficiency 117", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0061083", "MEDGEN:1848763", "OMIM:620668", "Orphanet:699615", "UMLS:C5882739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958012", "name": "Neurodegeneration with brain iron accumulation 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026909", "MEDGEN:1845761", "OMIM:620669", "UMLS:C5882740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958013", "name": "Immunodeficiency, common variable, 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026910", "MEDGEN:1847802", "OMIM:620670", "Orphanet:697417", "UMLS:C5882741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958017", "name": "Neutropenia, severe congenital, 11, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026911", "MEDGEN:1846394", "OMIM:620674", "UMLS:C5882742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958018", "name": "Leukodystrophy, hypomyelinating, 27", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026912", "MEDGEN:1844996", "OMIM:620675", "UMLS:C5882743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958022", "name": "Lipodystrophy, familial partial, type 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026913", "MEDGEN:1846436", "OMIM:620679", "UMLS:C5882744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958023", "name": "Lipodystrophy, congenital generalized, type 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026914", "MEDGEN:1847991", "OMIM:620680", "UMLS:C5882745"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958030", "name": "Immunodeficiency 118", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061084", "MEDGEN:1852539", "OMIM:301115", "UMLS:C5882665"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958034", "name": "Lipodystrophy, familial partial, type 9", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026915", "MEDGEN:1845936", "OMIM:620683", "Orphanet:686999", "UMLS:C5882746"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958035", "name": "Premature ovarian failure 23", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026916", "MEDGEN:1845723", "OMIM:620686", "UMLS:C5882747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958037", "name": "Developmental dysplasia of the hip 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1850976", "OMIM:620690", "UMLS:C5882750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958071", "name": "Hao-fountain syndrome due to usp7 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["USP7-related neurodevelopmental disorder"], "xref": ["GARD:0026917", "MEDGEN:1853151", "OMIM:616863", "Orphanet:643538", "UMLS:C5816734"]}
{"category": ["biolink:Disease"], "description": "A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.", "id": "MONDO:0958075", "name": "Intramedullary non-dysraphic spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026918", "MEDGEN:1853179", "Orphanet:645359", "UMLS:C5816716"]}
{"category": ["biolink:Disease"], "description": "A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.", "id": "MONDO:0958076", "name": "Myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026919", "MEDGEN:539965", "Orphanet:645398", "UMLS:C0266507", "icd11.foundation:1547705800"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958077", "name": "Collagen 6-related congenital muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0026920", "MEDGEN:1864182", "Orphanet:646098", "UMLS:C5816703"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958083", "name": "Conjoined twins", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026921", "ICD10CM:Q89.4", "MEDGEN:52901", "Orphanet:647916", "UMLS:C0041428", "icd11.foundation:1550169484"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.", "id": "MONDO:0958085", "name": "Digenic hemochromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026922", "MEDGEN:1853200", "Orphanet:648581", "UMLS:C5816744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958091", "name": "Cleft palate-congenital heart defect-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026923", "MEDGEN:1859712", "Orphanet:652519", "UMLS:C5924219"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958093", "name": "Non-syndromic supernumerary kidneys", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026924", "MEDGEN:1864142", "Orphanet:652528", "UMLS:C5925122"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.", "id": "MONDO:0958094", "name": "Adult-onset progressive leukoencephalopathy-early-onset deafness", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026925", "MEDGEN:1859137", "Orphanet:652532", "UMLS:C5921954"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958095", "name": "Nodal t-follicular helper cell lymphoma, follicular type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026926", "MEDGEN:398050", "NCIT:C80375", "Orphanet:652650", "UMLS:C2700204"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958096", "name": "Monomorphic epitheliotropic intestinal t-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026927", "MEDGEN:474158", "NCIT:C96058", "Orphanet:652658", "UMLS:C3272525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958097", "name": "Primary superior vena cava aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026928", "MEDGEN:1863724", "Orphanet:652668", "UMLS:C5925121"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958098", "name": "Primary inferior vena cava aneurysm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026929", "MEDGEN:1863758", "Orphanet:652678", "UMLS:C5925120"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958099", "name": "Idiopathic subglottic stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026930", "MEDGEN:1864137", "Orphanet:652681", "UMLS:C5925119"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958101", "name": "Lymphocytic mastitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_breast_disorder", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026931", "Orphanet:653698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958104", "name": "Digenic alport syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0026932", "MEDGEN:1863937", "Orphanet:653722", "UMLS:C5925113"]}
{"category": ["biolink:Disease"], "description": "A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.", "id": "MONDO:0958106", "name": "Congenital insensitivity to pain syndrome, marsili type", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MARSILI syndrome", "MARSIS", "Marsili syndrome", "congenital analgesia, autosomal dominant", "indifference to pain, congenital, autosomal dominant", "insensitivity to pain, congenital, autosomal dominant"], "xref": ["DOID:0081075", "GARD:0026933", "MESH:C564128", "OMIM:147430", "Orphanet:653728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958110", "name": "Atrophic papulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026934", "Orphanet:656071"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958115", "name": "Autosomal recessive combined immunodeficiency due to complete il6st deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026935", "MEDGEN:1864006", "Orphanet:656283", "UMLS:C5925103"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958116", "name": "Autosomal recessive combined immunodeficiency due to partial il6st deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026936", "MEDGEN:1863929", "Orphanet:656300", "UMLS:C5925106"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958117", "name": "Autosomal dominant combined immunodeficiency due to partial il6st deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026937", "MEDGEN:1863566", "Orphanet:656313", "UMLS:C5925105"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958118", "name": "Autosomal recessive combined immunodeficiency due to il6r deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026938", "MEDGEN:1863760", "Orphanet:656326", "UMLS:C5925112"]}
{"category": ["biolink:Disease"], "description": "A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.", "id": "MONDO:0958119", "name": "Embryonal tumor with multilayered rosettes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0006352", "MEDGEN:1804732", "NCIT:C186534", "Orphanet:656417", "UMLS:C5575350"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958120", "name": "Autosomal dominant combined immunodeficiency due to erbin deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026939", "MEDGEN:1863785", "Orphanet:656912", "UMLS:C5925110"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958122", "name": "Idiopathic small fibers neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026940", "MEDGEN:1863834", "Orphanet:658549", "UMLS:C5925111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958123", "name": "Isolated pulmonary artery sling", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026941", "Orphanet:658574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958127", "name": "Transplant-related bronchiolitis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026942", "MEDGEN:1808244", "Orphanet:658602", "UMLS:C5574736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958128", "name": "Non-transplant-related bronchiolitis obliterans", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026943", "MEDGEN:1863569", "Orphanet:658612", "UMLS:C5925142"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958130", "name": "Greig cephalopolysyndactyly-contiguous gene syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026945", "MEDGEN:1864335", "Orphanet:658805", "UMLS:C5925145"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958137", "name": "Early-onset autoimmune disorder due to dock11 partial deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026946", "MEDGEN:1864045", "Orphanet:658946", "UMLS:C5925146"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958138", "name": "Early-onset immune dysregulation due to dock11 complete deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026947", "MEDGEN:1864413", "Orphanet:658951", "UMLS:C5925136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958150", "name": "Borrelia miyamotoi disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958151", "name": "Cepacia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070528"]}
{"category": ["biolink:Disease"], "description": "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.", "id": "MONDO:0958159", "name": "Sarcoma with bcor genetic alterations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081402", "MEDGEN:1791498", "NCIT:C178465", "UMLS:C5555057"]}
{"category": ["biolink:Disease"], "description": "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.", "id": "MONDO:0958160", "name": "Round cell sarcoma with ewsr1-non-ets fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081406", "MEDGEN:1790023", "NCIT:C178459", "UMLS:C4727985"]}
{"category": ["biolink:Disease"], "description": "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.", "id": "MONDO:0958161", "name": "B acute lymphoblastic leukemia with pax5 p80r mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081411", "GARD:0026948", "MEDGEN:1846082", "NCIT:C199260", "UMLS:C5855498"]}
{"category": ["biolink:Disease"], "description": "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.", "id": "MONDO:0958162", "name": "B acute lymphoblastic leukemia with dux4 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081412", "GARD:0026949", "MEDGEN:1848969", "NCIT:C199232", "UMLS:C5855478"]}
{"category": ["biolink:Disease"], "description": "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.", "id": "MONDO:0958164", "name": "Poorly differentiated chordoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081417", "GARD:0026950", "MEDGEN:1791171", "NCIT:C177898", "UMLS:C5554730"]}
{"category": ["biolink:Disease"], "description": "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.", "id": "MONDO:0958165", "name": "Anaplastic sarcoma of the kidney", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081418", "GARD:0026951", "MEDGEN:1661979", "NCIT:C154496", "UMLS:C4722276"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958174", "name": "Basal cell nevus syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0026952", "OMIM:109400"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958175", "name": "Craniofacial microsomia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026953", "MEDGEN:501171", "OMIM:164210", "UMLS:C3495417"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958176", "name": "Oculopharyngeal muscular dystrophy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ncit_rare", "mondo:rare"], "xref": ["GARD:0026954", "NCIT:C84942", "OMIM:164300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958177", "name": "Chronic recurrent multifocal osteomyelitis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026955", "OMIM:259680"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958178", "name": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1840207", "OMIM:301108", "UMLS:C5829571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958179", "name": "Glycine encephalopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070616", "GARD:0026956", "OMIM:605899"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958180", "name": "Prolonged electroretinal response suppression 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070363", "GARD:0026957", "MEDGEN:1840510", "OMIM:608415", "UMLS:C5829874"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958181", "name": "Mitochondrial trifunctional protein deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070619", "GARD:0026958", "OMIM:609015"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958182", "name": "C1q deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026959", "OMIM:613652"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958183", "name": "Leber-like hereditary optic neuropathy, autosomal recessive 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026960", "OMIM:619382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958184", "name": "Epidermolytic hyperkeratosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081359", "GARD:0026961"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958185", "name": "Mitochondrial trifunctional protein deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060999", "GARD:0026962", "MEDGEN:1841010", "OMIM:620300", "UMLS:C5830374"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958186", "name": "Hematuria, benign familial, 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841057", "OMIM:620320", "UMLS:C5830421"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958187", "name": "C1q deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026963", "MEDGEN:1841058", "OMIM:620321", "UMLS:C5830422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958188", "name": "C1q deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026964", "MEDGEN:1841059", "OMIM:620322", "UMLS:C5830423"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958189", "name": "Basal cell nevus syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["DOID:0070366", "GARD:0026965", "MEDGEN:1841087", "OMIM:620343", "UMLS:C5830451"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958190", "name": "Prolonged electroretinal response suppression 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070364", "GARD:0026966", "MEDGEN:1841088", "OMIM:620344", "UMLS:C5830452"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958191", "name": "Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841152", "OMIM:620374", "UMLS:C5830516"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958192", "name": "Glycine encephalopathy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061001", "GARD:0026967", "MEDGEN:1841195", "OMIM:620398", "UMLS:C5830559"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958193", "name": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1841226", "OMIM:620425", "UMLS:C5830590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958194", "name": "Craniofacial microsomia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026968", "MEDGEN:1830923", "OMIM:620444", "UMLS:C5781610"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958195", "name": "Oculopharyngeal muscular dystrophy 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026969", "MEDGEN:1841318", "OMIM:620460", "UMLS:C5830682"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958196", "name": "Epilepsy, early-onset, 3, with or without developmental delay", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070472", "MEDGEN:1847911", "OMIM:620465", "UMLS:C5882674"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958197", "name": "Leber-like hereditary optic neuropathy, autosomal recessive 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026970", "MEDGEN:1845294", "OMIM:620569", "UMLS:C5882713"]}
{"category": ["biolink:Disease"], "description": "Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.", "id": "MONDO:0958199", "name": "Myoclonic epilepsy of lafora 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070660", "GARD:0026971", "OMIM:254780"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958200", "name": "Intellectual developmental disorder, x-linked 113", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026972", "MEDGEN:1852264", "OMIM:301116", "UMLS:C5882666"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958202", "name": "Moyamoya disease 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026974", "MEDGEN:1851566", "OMIM:620687", "UMLS:C5882748"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958203", "name": "Intellectual developmental disorder, autosomal dominant 74", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061047", "MEDGEN:1845603", "OMIM:620688", "UMLS:C5882749"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958204", "name": "Intellectual developmental disorder, autosomal recessive 81", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026975", "MEDGEN:1844192", "OMIM:620700", "UMLS:C5882758"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958205", "name": "Yuksel-vogel-bauer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847314", "OMIM:620703", "UMLS:C5882751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958206", "name": "Spermatogenic failure 89", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070588", "MEDGEN:1852501", "OMIM:620705", "UMLS:C5882752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958224", "name": "Encephalopathy, porphyria-related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028081", "MEDGEN:1859316", "OMIM:620704", "UMLS:C5935574"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958226", "name": "Leukoencephalopathy, porphyria-related", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026976", "MEDGEN:1862491", "OMIM:620711", "UMLS:C5935575"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958227", "name": "Polydactyly-macrocephaly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1847761", "OMIM:620712", "UMLS:C5882754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958228", "name": "Hearing loss, autosomal recessive 122", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070669", "GARD:0026977", "MEDGEN:1853544", "OMIM:620714", "UMLS:C5935576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958229", "name": "Bleeding disorder, vascular-type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1853829", "OMIM:620715", "UMLS:C5935577"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958230", "name": "Orofaciodigital syndrome 20", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060962", "GARD:0026978", "MEDGEN:1854813", "OMIM:620718", "UMLS:C5935578"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.", "id": "MONDO:0958231", "name": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PUM1-associated developmental disability-ataxia-seizure syndrome"], "xref": ["GARD:0027314", "OMIM:620719", "Orphanet:589515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958232", "name": "Hearing loss, autosomal dominant 90", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070607", "GARD:0026979", "MEDGEN:1855139", "OMIM:620722", "UMLS:C5935579"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958233", "name": "Bethlem myopathy 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061199", "GARD:0026980", "MEDGEN:1859128", "OMIM:620725", "UMLS:C5935580"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958234", "name": "Bethlem myopathy 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061200", "GARD:0026981", "MEDGEN:1854240", "OMIM:620726", "UMLS:C5935581"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958235", "name": "Ullrich congenital muscular dystrophy 1b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060942", "GARD:0026982", "MEDGEN:1859300", "OMIM:620727", "UMLS:C5935582"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958236", "name": "Ullrich congenital muscular dystrophy 1c", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060943", "GARD:0026983", "MEDGEN:1862699", "OMIM:620728", "UMLS:C5935583"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958237", "name": "Isolated hyperferritinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hyperferritinemia"], "xref": ["MEDGEN:892475", "OMIM:620729", "UMLS:C3854388"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958239", "name": "Microphthalmia/coloboma 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026984", "MEDGEN:1856733", "OMIM:620731", "UMLS:C5935584"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958240", "name": "Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1863149", "OMIM:620732", "UMLS:C5935585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958241", "name": "Cardiomyopathy, familial hypertrophic, 30, atrial", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0026985", "MEDGEN:1858408", "OMIM:620734", "UMLS:C5935586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958242", "name": "Spermatogenic failure 90", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070589", "MEDGEN:1853928", "OMIM:620744", "UMLS:C5935587"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958256", "name": "Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PASS syndrome"], "xref": ["GARD:0026986", "MEDGEN:1853171", "Orphanet:641385", "UMLS:C5816788"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958257", "name": "Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PSAPASH syndrome"], "xref": ["GARD:0026987", "MEDGEN:1853239", "Orphanet:641390", "UMLS:C5816786"]}
{"category": ["biolink:Disease"], "description": "A form of endogenous Cushing syndrome characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex.", "id": "MONDO:0958258", "name": "Cushing syndrome due to cortisol-producing adrenocortical adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026988", "MEDGEN:1853161", "Orphanet:642788", "UMLS:C5816799"]}
{"category": ["biolink:Disease"], "description": "A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.", "id": "MONDO:0958259", "name": "Dysraphism with stalk", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0026989", "MEDGEN:1853160", "Orphanet:645193", "UMLS:C5816733"]}
{"category": ["biolink:Disease"], "description": "A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.", "id": "MONDO:0958260", "name": "Dysraphic spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0026990", "MEDGEN:1853158", "Orphanet:645273", "UMLS:C5816731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958262", "name": "Isolated primary pigmented nodular adrenocortical disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026991", "MEDGEN:1853165", "Orphanet:647772", "UMLS:C5816750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958263", "name": "Isolated micronodular adrenocortical disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026992", "MEDGEN:1853162", "Orphanet:647782", "UMLS:C5816756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958264", "name": "Infectious scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026993", "MEDGEN:1853163", "Orphanet:648665", "UMLS:C5816746"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958265", "name": "Idiopathic scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026994", "MEDGEN:1853157", "Orphanet:648675", "UMLS:C5816747"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958266", "name": "Immune-mediated scleritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026995", "MEDGEN:1853164", "Orphanet:648681", "UMLS:C5578029"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958267", "name": "Non-syndromic bridging bronchus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026996", "MEDGEN:1853159", "Orphanet:648992", "UMLS:C5816737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958268", "name": "Non-syndromic congenital bronchial atresia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026997", "MEDGEN:1853136", "Orphanet:649010", "UMLS:C5816738"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958269", "name": "Isolated left bronchial isomerism", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0026998", "MEDGEN:1853146", "Orphanet:649029", "UMLS:C5816741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958270", "name": "Central precocious puberty in male", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0026999", "MEDGEN:1853132", "Orphanet:649929", "UMLS:C5816736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958273", "name": "Cleft palate-congenital heart defect-intellectual disability syndrome due to meis2 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027000", "MEDGEN:1863442", "Orphanet:652514", "UMLS:C5925117"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958274", "name": "Benign atrophic papulosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027001", "MEDGEN:1864041", "Orphanet:656085", "UMLS:C5891170"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958275", "name": "Segmental spinal dysgenesis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027002", "MEDGEN:1863453", "Orphanet:656126", "UMLS:C5891176"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958277", "name": "Hearing loss, autosomal recessive 123", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070670", "GARD:0027003", "MEDGEN:1861332", "OMIM:620745", "UMLS:C5935588"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958278", "name": "Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027153", "MEDGEN:1855201", "OMIM:620746", "Orphanet:664430", "UMLS:C5935589"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958279", "name": "Megalencephaly-polydactyly syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1855924", "OMIM:620748", "UMLS:C5935591"]}
{"category": ["biolink:Disease"], "description": "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.", "id": "MONDO:0958295", "name": "Bcor itd sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081403", "MEDGEN:1791501", "UMLS:C5555060"]}
{"category": ["biolink:Disease"], "description": "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.", "id": "MONDO:0958296", "name": "Bcor-ccnb3 sarcoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081404", "MEDGEN:1791499", "UMLS:C5555058"]}
{"category": ["biolink:Disease"], "description": "A sarcoma with BCOR genetic alterations that occurs during childhood.", "id": "MONDO:0958297", "name": "Childhood sarcoma with bcor genetic alterations", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081405", "MEDGEN:1817088", "UMLS:C5708183"]}
{"category": ["biolink:Disease"], "description": "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.", "id": "MONDO:0958298", "name": "Childhood round cell sarcoma with ewsr1-non-ets fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081407", "MEDGEN:1817086", "UMLS:C5708181"]}
{"category": ["biolink:Disease"], "description": "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.", "id": "MONDO:0958299", "name": "Round cell sarcoma with ewsr1-nfatc2 gene fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081408", "MEDGEN:1791493", "UMLS:C5555052"]}
{"category": ["biolink:Disease"], "description": "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.", "id": "MONDO:0958300", "name": "Round cell sarcoma with ewsr1-patz1 gene fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081409", "MEDGEN:1791494", "UMLS:C5555053"]}
{"category": ["biolink:Disease"], "description": "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.", "id": "MONDO:0958301", "name": "Round cell sarcoma with fus-nfatc2 gene fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081410", "MEDGEN:1791495", "UMLS:C5555054"]}
{"category": ["biolink:Disease"], "description": "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene.", "id": "MONDO:0958302", "name": "Tfeb-rearranged renal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081414", "GARD:0027004", "MEDGEN:1664261", "UMLS:C4745249"]}
{"category": ["biolink:Disease"], "description": "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.", "id": "MONDO:0958303", "name": "Childhood renal cell carcinoma with mit translocations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081416", "GARD:0027005", "MEDGEN:1817233", "UMLS:C5708328"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958322", "name": "Intellectual developmental disorder, x-linked, syndromic 37", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1854940", "OMIM:301118", "UMLS:C5935567"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958323", "name": "Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1857802", "OMIM:620747", "UMLS:C5935590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958324", "name": "Generalized epilepsy with febrile seizures plus, type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027006", "MEDGEN:1854923", "OMIM:620755", "UMLS:C5935592"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958325", "name": "Thrombocytopenia 12 with or without myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027007", "MEDGEN:1861803", "OMIM:620757", "UMLS:C5935593"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958326", "name": "Macular dystrophy with or without cone dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027008", "MEDGEN:1853300", "OMIM:620762", "UMLS:C5935594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958328", "name": "Seckel syndrome 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027009", "MEDGEN:1855399", "OMIM:620767", "UMLS:C5935595"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958329", "name": "Jeffries-lakhani neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1854360", "OMIM:620771", "UMLS:C5935596"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958330", "name": "Developmental and epileptic encephalopathy 113", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027010", "MEDGEN:1859161", "OMIM:620772", "UMLS:C5935597"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958331", "name": "Developmental and epileptic encephalopathy 114", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027011", "MEDGEN:1860189", "OMIM:620774", "UMLS:C5935598"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958332", "name": "Neuromuscular disorder, congenital, with dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027012", "MEDGEN:1857169", "OMIM:620775", "UMLS:C5935643"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958333", "name": "Thrombocytopenia 13, syndromic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027013", "MEDGEN:1856296", "OMIM:620776", "UMLS:C5935599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958334", "name": "Pulmonary hypertension, primary, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027014", "MEDGEN:1863339", "OMIM:620777", "UMLS:C5935600"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958335", "name": "Cutis laxa, autosomal recessive, type 1d", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027015", "MEDGEN:1857168", "OMIM:620780", "UMLS:C5935602"]}
{"category": ["biolink:Disease"], "description": "A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.", "id": "MONDO:0958342", "name": "Isolated optic nerve aplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027016", "MEDGEN:1836872", "Orphanet:637064", "UMLS:C5816782"]}
{"category": ["biolink:Disease"], "description": "A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.", "id": "MONDO:0958343", "name": "Papash syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027017", "MEDGEN:1853140", "Orphanet:641380", "UMLS:C5816787"]}
{"category": ["biolink:Disease"], "description": "A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.", "id": "MONDO:0958344", "name": "Spinal dermal sinus", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027018", "Orphanet:645188"]}
{"category": ["biolink:Disease"], "description": "A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.", "id": "MONDO:0958345", "name": "Limited dorsal myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027019", "MEDGEN:1853137", "Orphanet:645196", "UMLS:C5781237"]}
{"category": ["biolink:Disease"], "description": "A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.", "id": "MONDO:0958346", "name": "Isolated transitional filum lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027020", "MEDGEN:1853141", "Orphanet:645322", "UMLS:C5816722"]}
{"category": ["biolink:Disease"], "description": "A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.", "id": "MONDO:0958347", "name": "Isolated filum lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027021", "MEDGEN:1853135", "Orphanet:645325", "UMLS:C5816720"]}
{"category": ["biolink:Disease"], "description": "A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.", "id": "MONDO:0958348", "name": "Retained medullary cord", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027022", "MEDGEN:1853139", "Orphanet:645334", "UMLS:C5816811"]}
{"category": ["biolink:Disease"], "description": "A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.", "id": "MONDO:0958349", "name": "Dorsal spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027023", "MEDGEN:741207", "Orphanet:645362", "UMLS:C1827419"]}
{"category": ["biolink:Disease"], "description": "A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.", "id": "MONDO:0958350", "name": "Conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027024", "MEDGEN:1853144", "Orphanet:645367", "UMLS:C5816712"]}
{"category": ["biolink:Disease"], "description": "A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis.", "id": "MONDO:0958351", "name": "Hemi-myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027025", "MEDGEN:1853138", "Orphanet:645393", "UMLS:C5816709"]}
{"category": ["biolink:Disease"], "description": "A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).", "id": "MONDO:0958352", "name": "True myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027026", "MEDGEN:1853154", "Orphanet:645401", "UMLS:C5816711"]}
{"category": ["biolink:Disease"], "description": "A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.", "id": "MONDO:0958353", "name": "Intermediate collagen vi-related muscular dystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027027", "MEDGEN:1853152", "Orphanet:646113", "UMLS:C5816698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958354", "name": "Genetic central precocious puberty in female", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027028", "MEDGEN:1853156", "Orphanet:650077", "UMLS:C5816765"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958355", "name": "Secondary central precocious puberty in female", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027029", "MEDGEN:1853148", "Orphanet:650082", "UMLS:C5816762"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958356", "name": "Primary central precocious puberty in male", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027030", "MEDGEN:1853130", "Orphanet:650087", "UMLS:C5816763"]}
{"category": ["biolink:Disease"], "id": "MONDO:0958357", "name": "Secondary central precocious puberty in male", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027031", "MEDGEN:1853131", "Orphanet:650092", "UMLS:C5816760"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968944", "name": "Intellectual developmental disorder, autosomal recessive 82", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0060947", "GARD:0027032", "MEDGEN:1858975", "OMIM:620779", "UMLS:C5935601"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968945", "name": "Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:rare"], "xref": ["GARD:0028082", "MEDGEN:1854977", "OMIM:620782", "UMLS:C5935603"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968946", "name": "Developmental and epileptic encephalopathy 115", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027033", "MEDGEN:1858870", "OMIM:620783", "UMLS:C5935604"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968947", "name": "Neurodevelopmental disorder plus optic atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1859522", "OMIM:620784", "UMLS:C5935605"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968949", "name": "Palmoplantar keratoderma, epidermolytic", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0080223", "GARD:0027034", "MEDGEN:354561", "OMIMPS:144200", "UMLS:C1721006"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968951", "name": "Hypouricemia, renal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027035", "OMIMPS:220150"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968955", "name": "Hypocalcified amelogenesis imperfecta", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["amelogenesis imperfecta type 3"], "xref": ["GARD:0016931", "MEDGEN:140773", "Orphanet:100032", "UMLS:C0399376", "icd11.foundation:1793262466"]}
{"category": ["biolink:Disease"], "description": "Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.", "id": "MONDO:0968959", "name": "Isolated arhinencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0020979", "MEDGEN:1650277", "Orphanet:268936", "UMLS:C4749732"]}
{"category": ["biolink:Disease"], "description": "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.", "id": "MONDO:0968974", "name": "Large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081452", "GARD:0027036", "MEDGEN:1853176", "UMLS:C5212315"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968976", "name": "Neurodevelopmental disorder with progressive movement abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1861832", "OMIM:620785", "UMLS:C5935606"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968977", "name": "Basal ganglia calcification, idiopathic, 9, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027078", "MEDGEN:1854926", "OMIM:620786", "UMLS:C5935607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968978", "name": "Aplasia cutis-enamel dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome", "FOSL2-related neurodevelopmental disorder"], "xref": ["MEDGEN:1854704", "OMIM:620789", "Orphanet:697356", "UMLS:C5935608"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968979", "name": "Neurodevelopmental disorder with hypotonia and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1857806", "OMIM:620790", "UMLS:C5935609"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968980", "name": "Otosclerosis 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027079", "MEDGEN:1856162", "OMIM:620792", "UMLS:C5935610"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968981", "name": "Autosomal recessive nonsyndromic hearing loss 124", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070676", "GARD:0027080", "MEDGEN:1861039", "OMIM:620794", "UMLS:C5935612"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968982", "name": "Autoinflammation with episodic fever and immune dysregulation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1856440", "OMIM:620795", "UMLS:C5935613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968983", "name": "Proteasome-associated autoinflammatory syndrome 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027081", "MEDGEN:1857440", "OMIM:620796", "UMLS:C5935614"]}
{"category": ["biolink:Disease"], "description": "A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.", "id": "MONDO:0968986", "name": "Chaotic conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027082", "MEDGEN:1853143", "Orphanet:645285", "UMLS:C5816729"]}
{"category": ["biolink:Disease"], "description": "A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.", "id": "MONDO:0968987", "name": "Extramedullary conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027083", "MEDGEN:1853155", "Orphanet:645297", "UMLS:C5816726"]}
{"category": ["biolink:Disease"], "description": "A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).", "id": "MONDO:0968988", "name": "Saccular spinal dysraphism with a stalk to the dome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027084", "MEDGEN:1853133", "Orphanet:645319", "UMLS:C5816721"]}
{"category": ["biolink:Disease"], "description": "A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.", "id": "MONDO:0968989", "name": "Non-saccular limited dorsal myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027085", "MEDGEN:1853129", "Orphanet:645343", "UMLS:C5816717"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968990", "name": "Genetic central precocious puberty in male", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027086", "MEDGEN:1853128", "Orphanet:650097", "UMLS:C5816761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0968991", "name": "Non-genetic central precocious puberty in male", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027087", "MEDGEN:1853153", "Orphanet:650102", "UMLS:C5816759"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970943", "name": "Spermatogenic failure, x-linked, 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility"], "xref": ["DOID:0070599", "MEDGEN:1858665", "OMIM:301119", "UMLS:C5935568"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970944", "name": "Leigh syndrome, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:500017"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970945", "name": "Developmental and epileptic encephalopathy 116", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070545", "GARD:0027088", "MEDGEN:1857742", "OMIM:620806", "UMLS:C5935615"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970950", "name": "Rothmund-thomson syndrome type 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["Rothmund-Thomson syndrome, type 4"], "xref": ["GARD:0028083", "MEDGEN:1854023", "OMIM:620819", "UMLS:C5935619"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970951", "name": "El hayek-chahrour neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1863287", "OMIM:620820", "UMLS:C5935620"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970952", "name": "Spermatogenic failure 91", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070590", "MEDGEN:1862682", "OMIM:620838", "UMLS:C5935623"]}
{"category": ["biolink:Disease"], "description": "A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus.", "id": "MONDO:0970957", "name": "Terminal extramedullary conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027089", "MEDGEN:1853126", "Orphanet:645288", "UMLS:C5816727"]}
{"category": ["biolink:Disease"], "description": "A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-\"transitional\" between posterior and terminal conus region spinal cord lipoma.", "id": "MONDO:0970958", "name": "Transitional extramedullary conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027090", "MEDGEN:1853150", "Orphanet:645291", "UMLS:C5816728"]}
{"category": ["biolink:Disease"], "description": "A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated.", "id": "MONDO:0970959", "name": "Posterior extramedullary conus spinal cord lipoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027091", "MEDGEN:1853127", "Orphanet:645294", "UMLS:C5816725"]}
{"category": ["biolink:Disease"], "description": "A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers.", "id": "MONDO:0970960", "name": "Lipomatous non-saccular limited dorsal myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027092", "MEDGEN:1853134", "Orphanet:645300", "UMLS:C5816723"]}
{"category": ["biolink:Disease"], "description": "A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues.", "id": "MONDO:0970961", "name": "Fibroneural non-saccular limited dorsal myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027093", "MEDGEN:1853149", "Orphanet:645310", "UMLS:C5816724"]}
{"category": ["biolink:Disease"], "description": "A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).", "id": "MONDO:0970962", "name": "Terminal myelocystocele", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027094", "MEDGEN:1853147", "Orphanet:645337", "UMLS:C5816718"]}
{"category": ["biolink:Disease"], "description": "A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present.", "id": "MONDO:0970963", "name": "Saccular limited dorsal myeloschisis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027095", "MEDGEN:1853145", "Orphanet:645354", "UMLS:C5816715"]}
{"category": ["biolink:Disease"], "description": "A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.", "id": "MONDO:0970964", "name": "Myelic limited dorsal malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027096", "MEDGEN:1853142", "Orphanet:645378", "UMLS:C5816714"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970993", "name": "Immunodeficiency 119", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061085", "MEDGEN:1859911", "OMIM:620825", "UMLS:C5935621"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970994", "name": "Immunodeficiency 120", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:rare"], "xref": ["DOID:0061086", "GARD:0028084", "MEDGEN:1862745", "OMIM:620836", "UMLS:C5935622"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970995", "name": "Premature ovarian failure 24", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027097", "MEDGEN:1858807", "OMIM:620840", "UMLS:C5935624"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970998", "name": "Auroneurodental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1861965", "OMIM:620830", "UMLS:C5889721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0970999", "name": "Spermatogenic failure 92", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070591", "MEDGEN:1856349", "OMIM:620848", "UMLS:C5935625"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971000", "name": "Spermatogenic failure 93", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070592", "MEDGEN:1857096", "OMIM:620849", "UMLS:C5935626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971001", "name": "Immunodeficiency 121 with autoinflammation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061087", "MEDGEN:1857174", "OMIM:620807", "UMLS:C5935616"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971002", "name": "Spermatogenic failure 94", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070593", "MEDGEN:1855064", "OMIM:620850", "UMLS:C5935627"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971004", "name": "Amyloidosis, hereditary systemic 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027098", "MEDGEN:414031", "OMIM:105210", "UMLS:C2751492"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971005", "name": "Mhc class ii deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027099", "OMIM:209920"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971006", "name": "Mhc class i deficiency 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027100", "OMIM:604571"]}
{"category": ["biolink:Disease"], "description": "A neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly.", "id": "MONDO:0971007", "name": "Neuroocular syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome"], "xref": ["GARD:0027154", "MEDGEN:1863661", "OMIM:619539", "Orphanet:659904", "UMLS:C5925133"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971008", "name": "Amyloidosis, hereditary systemic 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027101", "MEDGEN:1635231", "OMIM:620657", "UMLS:C4551500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971009", "name": "Amyloidosis, hereditary systemic 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027102", "MEDGEN:1859086", "OMIM:620658", "UMLS:C5935572"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971010", "name": "Amyloidosis, hereditary systemic 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027103", "MEDGEN:1860723", "OMIM:620659", "UMLS:C5935573"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971011", "name": "Mhc class i deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027104", "MEDGEN:1862135", "OMIM:620813", "UMLS:C5935617"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971012", "name": "Mhc class i deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027105", "MEDGEN:1858909", "OMIM:620814", "UMLS:C5935618"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971013", "name": "Mhc class ii deficiency 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027106", "MEDGEN:347904", "OMIM:620815", "UMLS:C1859535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971014", "name": "Mhc class ii deficiency 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027107", "MEDGEN:347175", "OMIM:620816", "UMLS:C1859536"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971015", "name": "Mhc class ii deficiency 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027108", "MEDGEN:347176", "OMIM:620817", "UMLS:C1859537"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971016", "name": "Mhc class ii deficiency 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027109", "MEDGEN:349183", "OMIM:620818", "UMLS:C1859538"]}
{"category": ["biolink:Disease"], "description": "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication.", "id": "MONDO:0971031", "name": "Auto-brewery syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081455", "MEDGEN:1853294", "UMLS:C4552195"]}
{"category": ["biolink:Disease"], "description": "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication.", "id": "MONDO:0971032", "name": "Bladder fermentation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0081456"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.", "id": "MONDO:0971033", "name": "Intrathyroid thymic carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081457", "GARD:0027155", "MEDGEN:316474", "UMLS:C1704613"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.", "id": "MONDO:0971034", "name": "Thyroid gland cribriform morular carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081458", "GARD:0027156", "MEDGEN:927266", "UMLS:C4289734"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.", "id": "MONDO:0971035", "name": "Thyroid gland mixed medullary and follicular cell-derived carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081459", "GARD:0027157", "MEDGEN:1815194", "UMLS:C5706289"]}
{"category": ["biolink:Disease"], "description": "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.", "id": "MONDO:0971036", "name": "Thyroid gland mucinous carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0081460", "GARD:0027158", "MEDGEN:1661824", "UMLS:C4744698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971043", "name": "Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1857550", "OMIM:620852", "UMLS:C5935629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971044", "name": "Ehlers-danlos syndrome, classic-like, 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027110", "MEDGEN:1861383", "OMIM:620865", "UMLS:C5935631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971047", "name": "Prc-2 complex-related overgrowth spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027159", "MEDGEN:1863739", "Orphanet:659387", "UMLS:C5925135"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971049", "name": "Single isolated optic neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027160", "MEDGEN:1863952", "Orphanet:659626", "UMLS:C5925137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971050", "name": "Relapsing isolated optic neuritis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027161", "MEDGEN:1863611", "Orphanet:659634", "UMLS:C5925139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971056", "name": "Ocular surface squamous neoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027162", "MEDGEN:1787978", "Orphanet:659744", "UMLS:C4761284"]}
{"category": ["biolink:Disease"], "description": "A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of 3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules 5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low.", "id": "MONDO:0971058", "name": "Verruga peruana", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027163", "MEDGEN:21848", "Orphanet:659759", "UMLS:C0042552", "icd11.foundation:1480386521"]}
{"category": ["biolink:Disease"], "description": "An intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism in which the cause of the disease is a point mutation in the gene NR4A2.", "id": "MONDO:0971062", "name": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a nr4a2 point mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027164", "MEDGEN:1863959", "Orphanet:660012", "UMLS:C5925124"]}
{"category": ["biolink:Disease"], "description": "A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.", "id": "MONDO:0971063", "name": "Autosomal dominant dopa-responsive dystonia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027165", "Orphanet:98808", "icd11.foundation:1143673207"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971064", "name": "Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027166", "MEDGEN:1864391", "Orphanet:660021", "UMLS:C5925125"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971066", "name": "Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027167", "MEDGEN:1863639", "Orphanet:661412", "UMLS:C5925127"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971068", "name": "Phelan-mcdermid syndrome due to 22q13.3 deletion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027168", "Orphanet:662169"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971069", "name": "Phelan-mcdermid syndrome due to shank3 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027169", "MEDGEN:1864314", "Orphanet:662172", "UMLS:C5925128"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971077", "name": "Episodic memory defect leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027170", "MEDGEN:1864129", "Orphanet:662229", "UMLS:C5925071"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971080", "name": "Grisel syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027171", "MEDGEN:538169", "Orphanet:662255", "UMLS:C0263885"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971082", "name": "Gastric duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027397", "MEDGEN:539717", "Orphanet:662376", "UMLS:C0266148"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971083", "name": "Gallbladder duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027398", "MEDGEN:539794", "Orphanet:662388", "UMLS:C0266250"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971084", "name": "Colonic duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027399", "MEDGEN:539755", "Orphanet:662392", "UMLS:C0266202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971085", "name": "Pyloric duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027400", "MEDGEN:1876645", "Orphanet:662405", "UMLS:C6012342"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971086", "name": "Small intestine duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027401", "MEDGEN:576852", "Orphanet:662456", "UMLS:C0345268"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971089", "name": "Vasa previa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_obstetric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027402", "MEDGEN:75716", "Orphanet:662786", "UMLS:C0269852"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971091", "name": "Acute megakaryoblastic leukemia in adult", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027172", "MEDGEN:79016", "Orphanet:662934", "UMLS:C0279632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971092", "name": "Soft and hard cleft palate", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027173", "Orphanet:664372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971093", "name": "Mgp-related spondyloepiphyseal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027174", "MEDGEN:1864357", "Orphanet:664377", "UMLS:C5925072"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971094", "name": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027175", "MEDGEN:1863549", "Orphanet:664401", "UMLS:C5925073"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971095", "name": "6q25.1 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027176", "MEDGEN:1864381", "Orphanet:664404", "UMLS:C5925074"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971103", "name": "Nicolau syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027177", "MEDGEN:810780", "Orphanet:664787", "UMLS:C1142083"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971105", "name": "Neonatal renal venous thrombosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027178", "MEDGEN:1863518", "Orphanet:664912", "UMLS:C5925061"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971107", "name": "Common arterial trunk with aortic dominance", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027179", "MEDGEN:1622872", "Orphanet:665044", "UMLS:C4546067", "icd11.foundation:551770382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971108", "name": "Common arterial trunk with pulmonary dominance and interrupted aortic arch", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027180", "MEDGEN:1612764", "Orphanet:665058", "UMLS:C4546068", "icd11.foundation:97579611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971109", "name": "Isolated congenital femoral bifurcation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027403", "MEDGEN:1875657", "Orphanet:667589", "UMLS:C5925060"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971111", "name": "Intraoral basal cell carcinoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027181", "MEDGEN:1864187", "Orphanet:667678", "UMLS:C5925085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971115", "name": "Benign vascular tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:235124", "Orphanet:673470", "UMLS:C1377916"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971116", "name": "Borderline vascular tumor", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:232657", "Orphanet:673473", "UMLS:C1334225"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971118", "name": "Pilocytic astrocytoma with histological features of anaplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027184", "Orphanet:673585"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971119", "name": "Proteoglycan-related bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders"], "xref": ["MEDGEN:1863653", "Orphanet:674499", "UMLS:C5925088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971123", "name": "Isolated retinal racemose hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027186", "MEDGEN:1863667", "Orphanet:674924", "UMLS:C5890449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971124", "name": "Perifoveal exudative vascular anomalous complex", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027187", "MEDGEN:1863553", "Orphanet:674930", "UMLS:C5925081"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971125", "name": "Torpedo maculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027188", "MEDGEN:1863888", "Orphanet:674935", "UMLS:C5891237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971126", "name": "Isolated angioid streaks", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027189", "MEDGEN:1864217", "Orphanet:674943", "UMLS:C5925080"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971127", "name": "Diffuse unilateral subacute neuroretinitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027190", "MEDGEN:573129", "Orphanet:674947", "UMLS:C0339404", "icd11.foundation:1362820694"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971128", "name": "Multiple evanescent white dot syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027191", "MEDGEN:676519", "Orphanet:674953", "UMLS:C0730322", "icd11.foundation:1817745681"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971129", "name": "Stellate multiform amelanotic choroidopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027192", "MEDGEN:1864336", "Orphanet:674958", "UMLS:C5925082"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971130", "name": "Choroidal osteoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027193", "MEDGEN:1853292", "Orphanet:674965", "UMLS:C5400362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971131", "name": "Bilateral diffuse uveal melanocytic proliferation disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027194", "MEDGEN:705031", "Orphanet:674968", "UMLS:C1282144"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971133", "name": "Isolated segmental infantile hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027195", "MEDGEN:1863691", "Orphanet:675380", "UMLS:C5925079"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971137", "name": "Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027196", "MEDGEN:1863736", "Orphanet:675775", "UMLS:C5925096"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971138", "name": "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027197", "MEDGEN:1863933", "Orphanet:675782", "UMLS:C5925097"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971140", "name": "Well-differentiated papillary mesothelial tumour of the pleura", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027198", "MEDGEN:1863523", "Orphanet:675822", "UMLS:C5925093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971141", "name": "Localized pleural mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027199", "MEDGEN:1863756", "Orphanet:675833", "UMLS:C5925094"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971142", "name": "Diffused pleural mesothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027200", "MEDGEN:1863751", "Orphanet:675837", "UMLS:C5925095"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971143", "name": "Pleural mesothelioma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027201", "MEDGEN:1805153", "Orphanet:675841", "UMLS:C5668165"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971145", "name": "Peritoneal mesothelioma in situ", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027202", "MEDGEN:1864253", "Orphanet:676036", "UMLS:C5925102"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971149", "name": "Spastic paraplegia 30b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070646", "GARD:0027203", "MEDGEN:1854426", "OMIM:620607", "UMLS:C5935571"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971150", "name": "Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027204", "MEDGEN:1856205", "OMIM:620854", "UMLS:C5935630"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971151", "name": "Immunodeficiency 122", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061088", "MEDGEN:1860800", "OMIM:620869", "UMLS:C5935632"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971152", "name": "Hearing loss, autosomal recessive 125", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061124", "GARD:0027205", "MEDGEN:1861028", "OMIM:620877", "UMLS:C5935633"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971154", "name": "Hepatic cutaneous porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_group_of_disorders", "mondo:rare"], "xref": ["GARD:0027206", "Orphanet:659698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971170", "name": "Prostate cancer, hereditary, x-linked 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:omim_susceptibility", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0028085", "MEDGEN:1861605", "OMIM:301120", "UMLS:C5935569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971171", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 29", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061134", "GARD:0027207", "MEDGEN:1861320", "OMIM:620793", "UMLS:C5935611"]}
{"category": ["biolink:Disease"], "description": "A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance.", "id": "MONDO:0971172", "name": "Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["NEDHAFA", "RENU", "RNU4-2-related ReNU syndrome", "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome", "RNU4-2-related neurodevelopmental syndrome", "ReNU syndrome"], "xref": ["DOID:0061190", "GARD:0027315", "MEDGEN:1854654", "OMIM:620851", "Orphanet:686488", "UMLS:C5935628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971173", "name": "Autoinflammation with arthritis and vasculitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1855512", "OMIM:620880", "UMLS:C5935634"]}
{"category": ["biolink:Disease"], "description": "A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.", "id": "MONDO:0971174", "name": "Multiple mitochondrial dysfunctions syndrome 9b", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027208", "MEDGEN:1860851", "OMIM:620887", "UMLS:C5935635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971175", "name": "Cardiomyopathy, dilated, 2k", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027209", "MEDGEN:1861075", "OMIM:620894", "UMLS:C5935636"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971176", "name": "Ovarian dysgenesis 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027210", "MEDGEN:1856331", "OMIM:620897", "UMLS:C5935637"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971177", "name": "Immunodeficiency 123 with hpv-related verrucosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061089", "MEDGEN:1855052", "OMIM:620901", "UMLS:C5935639"]}
{"category": ["biolink:Disease"], "id": "MONDO:0971178", "name": "Polycystic kidney disease 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027211", "MEDGEN:1854762", "OMIM:620903", "UMLS:C5935640"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood.", "id": "MONDO:0971179", "name": "Arterial tortuosity-bone fragility syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["EMILIN1-related arterial tortuosity syndrome"], "xref": ["GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975705", "name": "Otofacial neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1857968", "OMIM:620910", "UMLS:C5935642"]}
{"category": ["biolink:Disease"], "description": "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.", "id": "MONDO:0975708", "name": "Dialysis disequilibrium syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070564"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975745", "name": "Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874870", "OMIM:620888", "UMLS:C5975340"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975746", "name": "Spastic paraplegia 92, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070644", "GARD:0027212", "MEDGEN:1874876", "OMIM:620911", "UMLS:C5975346"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975747", "name": "Spermatogenic failure 95", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070594", "MEDGEN:1874877", "OMIM:620917", "UMLS:C5975347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975749", "name": "Immunodeficiency 125", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061091", "MEDGEN:1874883", "OMIM:620926", "UMLS:C5975353"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975751", "name": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder"], "xref": ["MEDGEN:1863635", "Orphanet:664416", "UMLS:C5925059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975752", "name": "Littoral cell hemangioma of the spleen", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027214", "Orphanet:673538"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975753", "name": "Papillary hemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027215", "MEDGEN:1864329", "Orphanet:673543", "UMLS:C5925092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975754", "name": "Pseudomyogenic hemangioendothelioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027216", "MEDGEN:826097", "Orphanet:673556", "UMLS:C3840252"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975755", "name": "Eccrine angiomatous hamartoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027217", "MEDGEN:98361", "Orphanet:673568", "UMLS:C0406801", "icd11.foundation:541084000"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975756", "name": "Reactive angioendotheliomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027218", "MEDGEN:418935", "Orphanet:673574", "UMLS:C2930870"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975757", "name": "Anastomosing haemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027219", "MEDGEN:1385828", "Orphanet:675359", "UMLS:C4329301"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975758", "name": "Microvenular haemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027220", "MEDGEN:725856", "Orphanet:675369", "UMLS:C1304506", "icd11.foundation:1766508726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975759", "name": "Acquired elastotic haemangioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027221", "MEDGEN:1864020", "Orphanet:675597", "UMLS:C5925084", "icd11.foundation:1009548311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975761", "name": "Immunodeficiency 126, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match"], "xref": ["MEDGEN:1874892", "OMIM:620931", "UMLS:C5975362"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975795", "name": "Kariminejad neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061158", "MEDGEN:1874901", "OMIM:620937", "UMLS:C5975371"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975796", "name": "Spastic paraplegia 93, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070645", "GARD:0027316", "MEDGEN:1874905", "OMIM:620938", "UMLS:C5975375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975797", "name": "Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874910", "OMIM:620939", "UMLS:C5975380"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975798", "name": "Methylmalonic aciduria and homocystinuria, cb1l type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nutritional_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027317", "MEDGEN:1874917", "OMIM:620940", "UMLS:C5975387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975799", "name": "Brain malformation renal syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874920", "OMIM:620943", "UMLS:C5975390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975800", "name": "Spinocerebellar ataxia 51", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027318", "MEDGEN:1874924", "OMIM:620947", "UMLS:C5975394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975801", "name": "Encephalopathy, acute transient", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874927", "OMIM:620950", "UMLS:C5975397"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975805", "name": "Foveal hypoplasia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874935", "OMIM:620958", "UMLS:C5975405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975806", "name": "Multiple mitochondrial dysfunctions syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027319", "MEDGEN:1874943", "OMIM:620960", "UMLS:C5975413"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975807", "name": "Cholestasis, progressive familial intrahepatic, 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027320", "MEDGEN:1874952", "OMIM:620962", "UMLS:C5975422"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975808", "name": "Congenital myopathy 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061256", "GARD:0027321", "MEDGEN:1874962", "OMIM:620964", "UMLS:C5975432"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975809", "name": "Microphthalmia/coloboma 13", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027322", "MEDGEN:1874966", "OMIM:620968", "UMLS:C5975436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975810", "name": "Short stature with nonspecific skeletal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:906874", "OMIMPS:616255", "UMLS:C4225399"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975826", "name": "Arthrogryposis multiplex congenita 7, x-linked", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027323", "MEDGEN:1874402", "OMIM:301127", "UMLS:C5974872"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975827", "name": "Orofaciodigital syndrome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027324", "MEDGEN:1874405", "OMIM:301132", "UMLS:C5974875"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975828", "name": "Intellectual developmental disorder, x-linked 114", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027325", "MEDGEN:1874421", "OMIM:301134", "UMLS:C5974891"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975829", "name": "Anemia, congenital dyserythropoietic, type ivb", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051002", "GARD:0027326", "MEDGEN:1874968", "OMIM:620969", "UMLS:C5975438"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975830", "name": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061184", "GARD:0027327", "MEDGEN:1874979", "OMIM:620971", "UMLS:C5975449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975832", "name": "Immunodeficiency 127", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061092", "MEDGEN:1874984", "OMIM:620977", "UMLS:C5975454"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975833", "name": "Leukodystrophy, hypomyelinating, 28", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027328", "MEDGEN:1874990", "OMIM:620978", "UMLS:C5975460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975834", "name": "Immunodeficiency 128", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0061093", "MEDGEN:1874993", "OMIM:620983", "UMLS:C5975463"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975835", "name": "Bronchiectasis and nasal polyposis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874999", "OMIM:620984", "UMLS:C5975469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975836", "name": "Karayol-borroto-haghshenas neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875006", "OMIM:620985", "UMLS:C5975476"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975837", "name": "Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875007", "OMIM:620987", "UMLS:C5975477"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975838", "name": "Intellectual developmental disorder, autosomal dominant 75", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061048", "MEDGEN:1875012", "OMIM:620988", "UMLS:C5975482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975839", "name": "Pancreatic agenesis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027329", "MEDGEN:1875019", "OMIM:620991", "UMLS:C5975489"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975840", "name": "Retinitis pigmentosa 98", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061109", "GARD:0027330", "MEDGEN:1875025", "OMIM:620996", "UMLS:C5975495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975841", "name": "Fibromatosis, gingival, 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027331", "MEDGEN:1875031", "OMIM:620999", "UMLS:C5975501"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975842", "name": "Spermatogenic failure 96", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875033", "OMIM:621001", "UMLS:C5975503"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975843", "name": "Premature ovarian failure 25", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027332", "MEDGEN:1875040", "OMIM:621002", "UMLS:C5975510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975846", "name": "Congenital disorder of glycosylation, type 1dd", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027333", "MEDGEN:1874417", "OMIM:301133", "UMLS:C5974887"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975847", "name": "Autoimmune disease with susceptibility to mycobacterium tuberculosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match"], "xref": ["DOID:0061163", "MEDGEN:1875045", "OMIM:621004", "UMLS:C5975515"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975848", "name": "Morimoto-ryu-malicdan neuromuscular syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027404", "MEDGEN:1875051", "OMIM:621010", "UMLS:C5975521"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975862", "name": "B-lymphoblastic leukemia with mef2d rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070623", "GARD:0028087"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975863", "name": "B-lymphoblastic leukemia with myc rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070624", "GARD:0028088"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975864", "name": "B-lymphoblastic leukemia with nutm1 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070625", "GARD:0028089"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975865", "name": "B-lymphoblastic leukemia with pax5alt", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070626", "GARD:0028090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975866", "name": "B-lymphoblastic leukemia with tcf3-hlf fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070627", "GARD:0028091"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975867", "name": "B-lymphoblastic leukemia with znf384 rearrangement", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070628", "GARD:0028092"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975868", "name": "Acute myeloid leukemia with cbfa2t3-glis2 fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070629", "GARD:0028093"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975870", "name": "Acute myeloid leukemia with fus-erg fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070631", "GARD:0028094", "MEDGEN:1851267", "UMLS:C5856227"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975871", "name": "Acute myeloid leukemia with mnx1-etv6 fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070632", "GARD:0028095"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975872", "name": "Acute myeloid leukemia with npm1-mlf1 fusion", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0070633", "GARD:0028096", "MEDGEN:1850295", "UMLS:C5856228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975874", "name": "Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875057", "OMIM:621012", "UMLS:C5975527"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975875", "name": "Basal ganglia calcification, idiopathic, 10, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027334", "MEDGEN:1875062", "OMIM:621018", "UMLS:C5975532"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975877", "name": "Neurodevelopmental disorder with variable familial hypercholanemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875058", "OMIM:621016", "UMLS:C5975528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975882", "name": "Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027405", "Orphanet:684232"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975885", "name": "Hypertrophic olivary degeneration", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027406", "MEDGEN:1829865", "Orphanet:684290", "UMLS:C4524077"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975887", "name": "2q13 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027407", "MEDGEN:1876609", "Orphanet:684742", "UMLS:C6012360"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975890", "name": "Mesothelioma of the tunica vaginalis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027408", "MEDGEN:782172", "Orphanet:685010", "UMLS:C3494988"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975891", "name": "Combined immunodeficiency due to tbx1 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027409", "MEDGEN:1876546", "Orphanet:685017", "UMLS:C6012347"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975895", "name": "Non-fibrotic hypersensitivity pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027410", "MEDGEN:1876623", "Orphanet:686462", "UMLS:C6012350"]}
{"category": ["biolink:Disease"], "description": "A chronic, progressive lung disease characterized by inflammation and scarring (fibrosis) of the lung tissue, caused by an immune response to inhaled antigens.", "id": "MONDO:0975896", "name": "Fibrotic hypersensitivity pneumonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027411", "MEDGEN:1808428", "Orphanet:686465", "UMLS:C5666821"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975897", "name": "Post 5-alpha-reductase inhibitors treatment syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027412", "MEDGEN:1876574", "Orphanet:686468", "UMLS:C6012349"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975898", "name": "Post-selective serotonin reuptake inhibitor sexual dysfunction", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027413", "MEDGEN:1876676", "Orphanet:686475", "UMLS:C5554271"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975902", "name": "Isolated congenital cholesteatoma of the middle ear", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027414", "Orphanet:686556"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975904", "name": "10p15 microdeletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027415", "MEDGEN:1876602", "Orphanet:687424", "UMLS:C6012351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975905", "name": "10p13-p14 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027416", "NCIT:C130982", "OMIM:601362", "Orphanet:687695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975906", "name": "Unifocal langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027417", "MEDGEN:727088", "Orphanet:687730", "UMLS:C1306599"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975907", "name": "Pulmonary langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027418", "MEDGEN:264101", "Orphanet:687733", "UMLS:C1455705"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975908", "name": "Single-system multifocal langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027419", "MEDGEN:1876610", "Orphanet:687738", "UMLS:C6012359"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975909", "name": "Multisystem langerhans cell histiocytosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["GARD:0027420", "MEDGEN:1876606", "Orphanet:687741", "UMLS:C6012358"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975910", "name": "Splenic venous malformation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027421", "MEDGEN:1876593", "Orphanet:688523", "UMLS:C6012357"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975911", "name": "Reticular dysgenesis-like severe combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027422", "MEDGEN:1876613", "Orphanet:688543", "UMLS:C6012356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975918", "name": "Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027423", "MEDGEN:1876659", "Orphanet:689021", "UMLS:C6012375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975919", "name": "Ifih1-related hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1885531", "Orphanet:689231", "UMLS:C6012376"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975920", "name": "Rnaseh2b-related hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1885530", "Orphanet:689234", "UMLS:C6012377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975922", "name": "Acquired hypothalamic obesity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027424", "MEDGEN:1876719", "Orphanet:689401", "UMLS:C6012378"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975925", "name": "Adenoid ameloblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["GARD:0027425", "MEDGEN:1857420", "Orphanet:689430", "UMLS:C5207962"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975951", "name": "Spastic paraplegia, mitochondrial", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1874432", "OMIM:500018", "UMLS:C5974902"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975952", "name": "Cerebral cavernous malformations 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027335", "MEDGEN:1875071", "OMIM:621032", "UMLS:C5975541"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975953", "name": "Pan-chung-bellen syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061146", "MEDGEN:1875077", "OMIM:621049", "UMLS:C5975547"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975955", "name": "Autoinflammation, panniculitis, and dermatosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061170", "OMIMPS:617099"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975957", "name": "Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875087", "OMIM:621056", "UMLS:C5975557"]}
{"category": ["biolink:Disease"], "id": "MONDO:0975958", "name": "Spermatogenic failure 97", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875099", "OMIM:621057", "UMLS:C5975569"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976123", "name": "Spermatogenic failure, x-linked, 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061177", "MEDGEN:1874423", "OMIM:301137", "UMLS:C5974893"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976124", "name": "Intellectual developmental disorder with polymicrogyria and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875065", "OMIM:621021", "UMLS:C5975535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976125", "name": "Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875075", "OMIM:621034", "UMLS:C5975545"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976126", "name": "Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051030", "MEDGEN:1875108", "OMIM:621060", "UMLS:C5975578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976127", "name": "Muggenthaler-chowdhury-chioza syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome", "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome", "hyaluronidase 2 deficiency"], "xref": ["GARD:0028097", "MEDGEN:1875116", "OMIM:621063", "Orphanet:508476", "UMLS:C5975586"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976129", "name": "Premature ovarian failure 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027426", "MEDGEN:1875121", "OMIM:621065", "UMLS:C5975591"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976130", "name": "Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875124", "OMIM:621067", "UMLS:C5975594"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976131", "name": "Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875126", "OMIM:621068", "UMLS:C5975596"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976132", "name": "Mitochondrial dna depletion syndrome 21", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051029", "GARD:0027427", "MEDGEN:1875129", "OMIM:621071", "UMLS:C5975599"]}
{"category": ["biolink:Disease"], "description": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.", "id": "MONDO:0976133", "name": "Myopathy, myofibrillar, 13, with rimmed vacuoles", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["HSPB8-associated autosomal dominant rimmed vacuolar myopathy", "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "MFM13", "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "limb-girdle rimmed vacuolar myopathy", "rimmed vacuoles myopathy"], "xref": ["DOID:0051045", "GARD:0027428", "MEDGEN:1799560", "OMIM:621078", "Orphanet:476093", "UMLS:C5568137"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976134", "name": "Heterotaxy, visceral, 13, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051027", "GARD:0027429", "MEDGEN:1875137", "OMIM:621079", "UMLS:C5975607"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976135", "name": "Heterotaxy, visceral, 14, autosomal", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061123", "GARD:0027430", "MEDGEN:1875141", "OMIM:621080", "UMLS:C5975611"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976136", "name": "Ocular pterygium-digital keloid dysplasia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875143", "OMIM:621091", "UMLS:C5975613"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976137", "name": "Oocyte/zygote/embryo maturation arrest 22", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1875156", "OMIM:621093", "UMLS:C5975626"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976138", "name": "Leukodystrophy, demyelinating, adult-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976226", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 15", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051042", "GARD:0027432", "MEDGEN:1875158", "OMIM:621094", "UMLS:C5975628"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976227", "name": "Charcot-marie-tooth disease, axonal, type 2jj", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051043", "GARD:0027433", "MEDGEN:1875159", "OMIM:621095", "UMLS:C5975629"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976228", "name": "Immunodeficiency 132b", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:obsoletion_candidate"], "xref": ["DOID:0061097", "MEDGEN:1876493", "OMIM:621096", "UMLS:C6012695"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976229", "name": "Immunodeficiency 131", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061125", "MEDGEN:1876503", "OMIM:621097", "UMLS:C6012696"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976230", "name": "Spondyloepimetaphyseal dysplasia, li-shao-li type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051046", "GARD:0027434", "MEDGEN:1876456", "OMIM:621099", "UMLS:C6012697"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976231", "name": "Intellectual developmental disorder, autosomal recessive 83", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061114", "GARD:0027435", "MEDGEN:1876500", "OMIM:621100", "UMLS:C6012698"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976232", "name": "Perrault syndrome 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061073", "GARD:0027436", "MEDGEN:1876467", "OMIM:621101", "UMLS:C6012699"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976233", "name": "Neurodevelopmental disorder with progressive spasticity and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876541", "OMIM:621102", "UMLS:C6012700"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976234", "name": "Tubulointerstitial kidney disease, autosomal dominant 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061121", "MEDGEN:1876482", "OMIM:621106", "UMLS:C6012701"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976236", "name": "Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027437", "MEDGEN:1876537", "OMIM:301142", "UMLS:C6012689"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976261", "name": "Congenital disorder of glycosylation type 1ee with or without immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["MAN2B2-CDG", "MAN2B2-congenital disorder of glycosylation"], "xref": ["GARD:0028098", "MEDGEN:1876461", "OMIM:621140", "Orphanet:695110", "UMLS:C6012707"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976262", "name": "Holoprosencephaly 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028099", "OMIM:621143"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976263", "name": "Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876520", "OMIM:621150", "UMLS:C6012708"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976264", "name": "Neurodevelopmental disorder with white matter abnormalities and gait disturbance", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876507", "OMIM:621152", "UMLS:C6012709"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976265", "name": "Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876462", "OMIM:621154", "UMLS:C6012710"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976266", "name": "Diarrhea 14, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876494", "OMIM:621160", "UMLS:C6012711"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976268", "name": "Diarrhea 15, congenital", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876519", "OMIM:621179", "UMLS:C6012715"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976269", "name": "Cranioectodermal dysplasia 5", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028100", "MEDGEN:1876450", "OMIM:621180", "UMLS:C6011237"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976285", "name": "Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876489", "OMIM:621182", "UMLS:C6012716"]}
{"category": ["biolink:Disease"], "id": "MONDO:0976286", "name": "Tayoun-maawali syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876512", "OMIM:621184", "UMLS:C6012717"]}
{"category": ["biolink:Disease"], "description": "A syndrome caused by a variation in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.", "id": "MONDO:0976294", "name": "Ragopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061140"]}
{"category": ["biolink:Disease"], "description": "A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity.", "id": "MONDO:0976301", "name": "Cardiovascular-kidney-metabolic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070635"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978291", "name": "Retinitis pigmentosa 99", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028101", "MEDGEN:1876472", "OMIM:301148", "UMLS:C6012690"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978292", "name": "Retinal dystrophy, x-linked, gardner-hardcastle type", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028102", "MEDGEN:1876524", "OMIM:301149", "UMLS:C6012691"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978293", "name": "Houge-janssens syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876484", "OMIM:621185", "UMLS:C6012718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978294", "name": "Lsm7-related leukodystrophy and cerebellar atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876463", "OMIM:621191", "UMLS:C6012719"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978295", "name": "Craniofaciocardiohepatic syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876487", "OMIM:621192", "UMLS:C6012720"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978296", "name": "Ficus syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876514", "OMIM:621193", "UMLS:C6011251"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978297", "name": "Spermatogenic failure 99", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876518", "OMIM:621194", "UMLS:C6012721"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978298", "name": "Combined oxidative phosphorylation deficiency 60", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028103", "MEDGEN:1876491", "OMIM:621195", "UMLS:C6012722"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978299", "name": "Maturity-onset diabetes of the young, type 12", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028104", "MEDGEN:1876495", "OMIM:621196", "UMLS:C6012723"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978300", "name": "Neurodevelopmental disorder with ataxia and brain abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876536", "OMIM:621199", "UMLS:C6012724"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978301", "name": "Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876530", "OMIM:621201", "UMLS:C6012725"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978302", "name": "Spermatogenic failure 100", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876528", "OMIM:621209", "UMLS:C6012726"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978303", "name": "Li-takada-miyake syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876532", "OMIM:621212", "UMLS:C6012727"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978306", "name": "Isolated duodenal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:662473"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978307", "name": "Isolated jejuno-ileal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:662480"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978310", "name": "Adenomatoid tumour of the peritoneum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:675976"]}
{"category": ["biolink:Disease"], "id": "MONDO:0978312", "name": "Isolated anal canal duplication", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:684752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979226", "name": "Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028105", "MEDGEN:1876449", "OMIM:621214", "UMLS:C6012728"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979227", "name": "Guillouet-gordon syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876455", "OMIM:621220", "UMLS:C6012729"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979228", "name": "Ectodermal dysplasia 17 with or without limb malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028106", "MEDGEN:1876515", "OMIM:621224", "UMLS:C6012731"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979229", "name": "Congenital myopathy 26", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061257", "GARD:0028107", "MEDGEN:1876488", "OMIM:621225", "UMLS:C6012732"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979230", "name": "Spastic ataxia 11, autosomal dominant", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028108", "MEDGEN:1876498", "OMIM:621226", "UMLS:C6012733"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979231", "name": "Oocyte/zygote/embryo maturation arrest 23", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876458", "OMIM:621231", "UMLS:C6012734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979232", "name": "Oocyte/zygote/embryo maturation arrest 24", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876453", "OMIM:621232", "UMLS:C6012735"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979233", "name": "Immunodysregulation with variable immunodeficiency and autoimmunity", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028109", "MEDGEN:1876466", "OMIM:621233", "UMLS:C6012736"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979234", "name": "Ichad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1876542", "OMIM:621234", "Orphanet:699599", "UMLS:C6012290"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979235", "name": "Autoimmune disease, multisystem, infantile-onset, 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061164", "MEDGEN:1876460", "OMIM:621235", "UMLS:C6012737"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979236", "name": "Cardiomyopathy, dilated, 2l", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028110", "MEDGEN:1876511", "OMIM:621237", "UMLS:C6012739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979237", "name": "Pulmonary hypertension, primary, 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028111", "MEDGEN:1876459", "OMIM:621248", "UMLS:C6012740"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979238", "name": "Developmental and epileptic encephalopathy 118", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061176", "GARD:0028112", "MEDGEN:1876501", "OMIM:621250", "UMLS:C6012741"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979239", "name": "Cardiomyopathy, dilated, 1qq", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028113", "MEDGEN:1876479", "OMIM:621251", "UMLS:C6012742"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979240", "name": "Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876523", "OMIM:621252", "UMLS:C6012743"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979241", "name": "Fanconi anemia, complementation group 10", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028114", "MEDGEN:1876506", "OMIM:621258", "UMLS:C6012745"]}
{"category": ["biolink:Disease"], "description": "Any Jeune syndrome in which the cause of the disease is a mutation in the FGF4 gene, characterized by a small thorax with short ribs, resulting in pulmonary hypoplasia and respiratory insufficiency.", "id": "MONDO:0979242", "name": "Short-rib thoracic dysplasia 22 without polydactyly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["thoracic dysostosis, isolated"], "xref": ["GARD:0028115", "MESH:C566063", "OMIM:187750", "OMIM:621260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979243", "name": "Cardiomyopathy, dilated, 2m", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028116", "MEDGEN:1876496", "OMIM:621261", "UMLS:C6012748"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979244", "name": "Diamond-blackfan anemia 22", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028117", "MEDGEN:1876480", "OMIM:621262", "UMLS:C6012749"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979245", "name": "Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876448", "OMIM:621263", "UMLS:C6012750"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979246", "name": "Nil-deshwar neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070652", "MEDGEN:1876470", "OMIM:621265", "UMLS:C6012751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979249", "name": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028118", "OMIMPS:620138"]}
{"category": ["biolink:Disease"], "description": "A rare urogenital disease characterized by the presence of granulomas in the genital or anoperineal area presenting with painless swelling, inflammation, ulcers and lymphoedema. It is usually associated with a history of recurrent perianal or genital lesions.", "id": "MONDO:0979257", "name": "Isolated anogenital granulomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:692256"]}
{"category": ["biolink:Disease"], "description": "A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation.", "id": "MONDO:0979258", "name": "Cerebral proliferative angiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:692271"]}
{"category": ["biolink:Disease"], "description": "A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.", "id": "MONDO:0979259", "name": "Triglyceride deposit cardiomyovasculopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:692305"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979261", "name": "Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:692812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979271", "name": "Congenital intrahepatic arterioportal fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:694228"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979273", "name": "Adar-related hereditary spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:694356"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979280", "name": "Pure squamous carcinoma of the urothelial tract", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:695023"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979281", "name": "Giant omphalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:695032"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979282", "name": "Small omphalocele", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:695038"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979284", "name": "Acinar cystic transformation of the pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:459447", "Orphanet:695131", "UMLS:C2987221"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979286", "name": "Sickle cell-beta zero-thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["MEDGEN:1885529", "Orphanet:695140", "UMLS:C3844576"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979287", "name": "Sickle cell-beta plus-thalassemia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:695147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979288", "name": "Combined immunodeficiency due to dimerization defective ikaros mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:695172"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979290", "name": "Late-onset combined immunodeficiency due to icosl deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:695191"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979291", "name": "3q26q28 deletion syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1882544", "Orphanet:695611", "UMLS:C6010434"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979292", "name": "Primary vitreoretinal large b-cell lymphoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:695631"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979300", "name": "Pparg-associated congenital generalized lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:696242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979307", "name": "Emergomycosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1722113", "Orphanet:697091", "UMLS:C5435351"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979310", "name": "Lymphoepithelial cyst of the pancreas", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:697132"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979315", "name": "Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:697403"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979316", "name": "Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:697414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979317", "name": "St3gal3-congenital disorder of glycosylation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ST3GAL3-CDG"], "xref": ["Orphanet:697734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979319", "name": "Congenital peritoneal encapsulation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:697986"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979323", "name": "Carotid web", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:698260"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979325", "name": "Annular erythema of infancy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:699057"]}
{"category": ["biolink:Disease"], "description": "Chronic disease that occur as a complication of the Fontan procedure, a palliative surgery for patients with congenital heart disease that results in a single-ventricle circulation.", "id": "MONDO:0979326", "name": "Fontan-associated liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:1713226", "Orphanet:699068", "UMLS:C5396814"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979327", "name": "Combined immunodeficiency with low ig due to bcl10 deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:699578"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979328", "name": "Immune dysregulation with immunodeficiency due to aiolos haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:699590"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979334", "name": "Necrotizing cellulitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["MEDGEN:1876743", "Orphanet:699678", "UMLS:C5979992"]}
{"category": ["biolink:Disease"], "description": "A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable.", "id": "MONDO:0979335", "name": "Fibro-adipose vascular anomaly", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:699683"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979337", "name": "Necrotizing myositis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["MEDGEN:1856271", "Orphanet:699702", "UMLS:C3715147"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979339", "name": "Infantile neuronal ceroid lipofuscinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["infantile CLN1 disease"], "xref": ["Orphanet:699718"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979340", "name": "Late infantile neuronal ceroid lipofuscinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN1 disease"], "xref": ["Orphanet:699734"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979341", "name": "Juvenile neuronal ceroid lipofuscinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN1 disease"], "xref": ["Orphanet:699739"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979342", "name": "Adult neuronal ceroid lipofuscinosis 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["adult CLN1 disease"], "xref": ["Orphanet:699745"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979343", "name": "Infantile neuronal ceroid lipofuscinosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["infantile CLN2 disease"], "xref": ["Orphanet:699751"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979344", "name": "Late infantile neuronal ceroid lipofuscinosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN2 disease"], "xref": ["Orphanet:699761"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979345", "name": "Juvenile neuronal ceroid lipofuscinosis 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN2 disease"], "xref": ["Orphanet:699769"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979346", "name": "Juvenile neuronal ceroid lipofuscinosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN3 disease"], "xref": ["Orphanet:699780"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979347", "name": "Protracted juvenile neuronal ceroid lipofuscinosis 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["protracted juvenile CLN3 disease"], "xref": ["Orphanet:699796"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979348", "name": "Late infantile neuronal ceroid lipofuscinosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN5 disease"], "xref": ["Orphanet:699802"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979349", "name": "Juvenile neuronal ceroid lipofuscinosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN5 disease"], "xref": ["Orphanet:699807"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979350", "name": "Adult neuronal ceroid lipofuscinosis 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["adult CLN5 disease"], "xref": ["Orphanet:699812"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979353", "name": "2p25.3 microduplication syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_chromosomal_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:699850"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979354", "name": "Sickle cell disease due to hemoglobin s and a non-s/non-c hemoglobin variant", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700085"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979355", "name": "Homozygous hemoglobin o arab disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700111"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979356", "name": "Autosomal recessive hereditary chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700124"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979357", "name": "Idiopathic chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["MEDGEN:574410", "Orphanet:700133", "UMLS:C0341471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979359", "name": "Tardbp-related predominantly upper-limb distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700154"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979360", "name": "Adnp-related blepharophimosis-intellectual disability syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700160"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979361", "name": "Asymetric thumb-handgrip weakness-distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700170"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979362", "name": "Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["Orphanet:700188"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979367", "name": "Late infantile neuronal ceroid lipofuscinosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN6 disease"], "xref": ["Orphanet:700467"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979368", "name": "Juvenile neuronal ceroid lipofuscinosis 6", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN6 disease"], "xref": ["Orphanet:700472"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979370", "name": "Late infantile neuronal ceroid lipofuscinosis 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN8 disease"], "xref": ["Orphanet:700484"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979371", "name": "Congenital neuronal ceroid lipofuscinosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["congenital CLN10 disease"], "xref": ["Orphanet:700487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979372", "name": "Late infantile neuronal ceroid lipofuscinosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["late infantile CLN10 disease"], "xref": ["Orphanet:700492"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979373", "name": "Juvenile neuronal ceroid lipofuscinosis 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["juvenile CLN10 disease"], "xref": ["Orphanet:700497"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979570", "name": "Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061096", "MEDGEN:1876476", "OMIM:621254", "UMLS:C6012744"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979571", "name": "Exudative vitreoretinopathy 8", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028119", "MEDGEN:1876521", "OMIM:621268", "UMLS:C6012752"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979572", "name": "Spermatogenic failure 101", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876464", "OMIM:621269", "UMLS:C6012753"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979573", "name": "Cardiomyopathy, familial hypertrophic, 31", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028120", "MEDGEN:1876513", "OMIM:621270", "UMLS:C6012754"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979574", "name": "Retinitis pigmentosa 100", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028121", "MEDGEN:1876473", "OMIM:621280", "UMLS:C6012755"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979575", "name": "Intellectual developmental disorder, autosomal dominant 76", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1876508", "OMIM:621285", "UMLS:C6012756"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979865", "name": "Popov-chang syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:618428"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979866", "name": "Oculovertebral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621277"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979867", "name": "Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061227", "GARD:0028122", "OMIM:621295"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979871", "name": "Alsahan-harris syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028123", "OMIM:621307"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979872", "name": "Developmental dysplasia of the hip 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621311"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979873", "name": "Brain small vessel disease 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061234", "GARD:0028124", "OMIM:621313"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979875", "name": "Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621328"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979876", "name": "Wilms tumor 7", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028125", "OMIM:621332"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979877", "name": "Ververi-brady syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1647785", "OMIMPS:617982", "UMLS:C4693824"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979880", "name": "Brain small vessel disease 5 with osteoporosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061235", "GARD:0028126", "OMIM:621331"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979881", "name": "Infection-induced acute-onset axonal neuropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621333"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979883", "name": "Cranioectodermal dysplasia 6", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028127", "OMIM:621337"]}
{"category": ["biolink:Disease"], "description": "A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.", "id": "MONDO:0979885", "name": "Acute calcific periarthritis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051058"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979897", "name": "Congenital myopathy 27", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061258", "OMIM:621343"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979898", "name": "Dursun-ozgul neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621344"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979899", "name": "Spondyloepiphyseal dysplasia, holling type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621345"]}
{"category": ["biolink:Disease"], "id": "MONDO:0979905", "name": "Ptosis, hereditary congenital, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061149", "OMIM:178300"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980699", "name": "Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621354"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980700", "name": "Neurodevelopmental disorder with speech delay and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621372"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980701", "name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type b2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621373"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980702", "name": "Immune dysregulation, neurodevelopmental defects, and colitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621375"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980703", "name": "Harel-tora neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621377"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980704", "name": "Neurocardiorenal malformation syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621379"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980705", "name": "Congenital disorder of glycosylation, type iicc", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621381"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980706", "name": "Neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621382"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980707", "name": "Valence-farazi cerebellar ataxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621386"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980708", "name": "Spermatogenic failure 102", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621387"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980709", "name": "Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621390"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980710", "name": "Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621393"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980711", "name": "Brain small vessel disease 6 with leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061236", "OMIM:621394"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980712", "name": "Dyschromatosis, ichthyosis, deafness, and atopic disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621400"]}
{"category": ["biolink:Disease"], "description": "A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.", "id": "MONDO:0980715", "name": "Cardiac conduction disease with or without cardiomyoopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"], "xref": ["OMIMPS:616117", "Orphanet:436242"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980722", "name": "Stargardt disease 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061240", "MEDGEN:1876540", "OMIM:621259", "UMLS:C6012746"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980723", "name": "Fetomaternal alloimmune thrombocytopenia 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["MEDGEN:356917", "OMIM:621264", "UMLS:C1868202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980724", "name": "Fetomaternal alloimmune thrombocytopenia 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621266"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980725", "name": "Fetomaternal alloimmune thrombocytopenia 3", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621267"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980726", "name": "Ververi-brady syndrome 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621325"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980727", "name": "Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621384"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980728", "name": "Developmental delay with sleep apnea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621402"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980729", "name": "Immunodeficiency 134 (epstein-barr virus-specific)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621405"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980732", "name": "Pitt-hopkins or pitt-hopkins-like syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIMPS:610954"]}
{"category": ["biolink:Disease"], "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "id": "MONDO:0980735", "name": "Left ventricular failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051064"]}
{"category": ["biolink:Disease"], "description": "A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.", "id": "MONDO:0980737", "name": "Arterionephrosclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051066"]}
{"category": ["biolink:Disease"], "description": "A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build.", "id": "MONDO:0980739", "name": "Muscle dysmorphic disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070661"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980746", "name": "Intellectual developmental disorder, autosomal recessive 84", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:620401"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980747", "name": "Brain small vessel disease 2b, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061233", "OMIM:621414"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980748", "name": "Intellectual developmental disorder, autosomal dominant 77", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621415"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980749", "name": "Apolipoprotein a-ii deficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["MEDGEN:854810", "OMIM:621417", "UMLS:C3888202"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980751", "name": "Ramond-elliott neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621421"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980752", "name": "Leukoencephalopathy without lacunae, adult-onset", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621424"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980755", "name": "Mitochondrial complex iv deficiency, nuclear type 24", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621431"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980756", "name": "Congenital myopathy 28 with rigid spine", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061259", "OMIM:621433"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980757", "name": "Periodontitis, aggressive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIMPS:170650"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980759", "name": "Follicular lymphoma, susceptibility to", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "xref": ["OMIMPS:613024"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980763", "name": "Dental radicular dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621434"]}
{"category": ["biolink:Disease"], "description": "A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.", "id": "MONDO:0980767", "name": "Lipofibromatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0070665"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980935", "name": "Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621436"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980936", "name": "Neutropenia, severe congenital, 12, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621439"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980937", "name": "Oculopharyngodistal myopathy 5", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621446"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980938", "name": "Osteopetrosis, autosomal dominant 4", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621449"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980939", "name": "Basal ganglia calcification, idiopathic, 11, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621452"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent speech.", "id": "MONDO:0980940", "name": "Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["UNC13A-related congenital neurodevelopmental disorder with epilepsy"], "xref": ["DOID:0061252", "OMIM:621455"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of developmental delay and intellectual disability, seizures of various types, and tremor and dyskinetic movements, with death in early childhood in some cases.", "id": "MONDO:0980941", "name": "Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["UNC13A-related neurodevelopmental disorder with seizures and movement disorder"], "xref": ["DOID:0061253", "OMIM:621456"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980942", "name": "Intellectual developmental disorder with seizures and dysmorphic facies", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0061254", "OMIM:621457"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980947", "name": "Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621460"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980948", "name": "Developmental and epileptic encephalopathy 120", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621468"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980949", "name": "Moyamoya disease 8", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621469"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980963", "name": "Charcot-marie-tooth disease, axonal, type 2kk", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061251", "OMIM:621466"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980964", "name": "Oocyte/zygote/embryo maturation arrest 25", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621471"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980965", "name": "Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621474"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980966", "name": "Developmental and epileptic encephalopathy 121", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621475"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980967", "name": "Mitochondrial dna depletion syndrome 14a (encephalomyopathic type)", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621481"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980968", "name": "Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621482"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980969", "name": "Charcot-marie-tooth disease, axonal, type 2ll", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621485"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980970", "name": "Mitochondrial complex 4 deficiency, nuclear type 25", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_mitochondrial_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621487"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980971", "name": "Charcot-marie-tooth disease, axonal, type 2mm", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621488"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980972", "name": "Hypotrichosis 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621490"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980973", "name": "Stad syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621495"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980974", "name": "Craniosynostosis-scoliosis syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621499"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980987", "name": "Xeroderma pigmentosum, complementation group j", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621435"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980988", "name": "Epilepsy, idiopathic generalized 20", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621500"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980990", "name": "Neurodevelopmental disorder with parkinsonism or other movement abnormalities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051076", "OMIM:621506"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980991", "name": "Microcephaly 31, primary, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051074", "OMIM:621507"]}
{"category": ["biolink:Disease"], "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GINS3 gene.", "id": "MONDO:0980992", "name": "Meier-gorlin syndrome 9", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GINS3 Meier-Gorlin syndrome", "MGORS9", "Meier-Gorlin syndrome 9"], "xref": ["DOID:0051069", "OMIM:621512"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980997", "name": "Fibromuscular dysplasia of the cervical and intracranial arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:698036"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980998", "name": "Fibromuscular dysplasia of the renal arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:698043"]}
{"category": ["biolink:Disease"], "id": "MONDO:0980999", "name": "Fibromuscular dysplasia of the coronary arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:698059"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981000", "name": "Fibromuscular dysplasia of the visceral arteries", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:698063"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981001", "name": "Fibromuscular dysplasia of the arteries of the extremities", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:698069"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981004", "name": "Sickle cell s-lepore disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:699822"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981005", "name": "Sickle cell s-o arab disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:700090"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981007", "name": "Early-onset idiopathic chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:700136"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981008", "name": "Late-onset idiopathic chronic pancreatitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["Orphanet:700139"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981022", "name": "Cardiomyopathy, dilated, 3c", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051073", "OMIM:301163"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981023", "name": "Spondylocostal dysostosis 7, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061255", "OMIM:621523"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981024", "name": "Neurodegenerative disorder with cerebellar and caudate atrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051072", "OMIM:621525"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981030", "name": "Congenital myopathy 29 with contractures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061260", "OMIM:621510"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981031", "name": "Lethal congenital contracture syndrome 12", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0061268", "OMIM:621511"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981032", "name": "Neurodevelopmental disorder with seizures and impaired intellectual and language development", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["DOID:0051071", "OMIM:621533"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981050", "name": "Meier-gorlin syndrome 10", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["DOID:0051070", "OMIM:621528"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981162", "name": "Spinocerebellar ataxia 52", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621535"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981163", "name": "Ebstein-bezieau neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621539"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981164", "name": "Retinitis pigmentosa 101", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["OMIM:621548"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981165", "name": "Luo-agrawal neurodevelopmental syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621552"]}
{"category": ["biolink:Disease"], "id": "MONDO:0981166", "name": "Autosomal dominant nonsyndromic hearing loss 91", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["deafness, autosomal dominant 91"], "xref": ["OMIM:621556"]}
{"category": ["biolink:Disease"], "description": "A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.", "id": "MONDO:1010000", "name": "Pythiosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["human pythiosis", "pythium insidiosum infection"], "xref": ["GARD:0011989", "MEDGEN:124447", "MESH:D058968", "UMLS:C0276912", "icd11.foundation:1571230529"]}
{"category": ["biolink:Disease"], "description": "A human disease caused by infection with Aleutian mink disease parvovirus.", "id": "MONDO:1010029", "name": "Aleutian mink disease, human", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["ICD9:079.89", "MESH:D000453", "SCTID:62251004"]}
{"category": ["biolink:Disease"], "description": "A malignant high-grade glioma that occurs during childhood in the central nervous system.", "id": "MONDO:1010030", "name": "Pediatric high-grade glioma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["childhood malignant glioma", "pHGG"], "xref": ["GARD:0027222", "MEDGEN:1861427", "NCIT:C202298", "UMLS:C5908419"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis characterized by the presence of anti-MDA5 autoantibodies. It is often associated with dermatomyositis rashes, amyopathic or hypomyopathic muscle involvement and interstitial lung disease, frequently as a rapid progressive course and high mortality.", "id": "MONDO:1010064", "name": "Anti-mda5 dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MDA-5 DM", "MDA5+ DM", "anti-melanoma differentiation-associated gene 5 dermatomyositis"], "xref": ["GARD:0027223"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis characterized by the presence of anti-Mi2 autoantibodies.", "id": "MONDO:1010065", "name": "Anti-mi2 dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027224"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis characterized by the presence of anti-NXP2 autoantibodies.", "id": "MONDO:1010084", "name": "Anti-nxp2 dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anti-nuclear matrix protein 2 dermatomyositis"], "xref": ["GARD:0027225"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis characterized by the presence of anti-TIF1 autoantibodies.", "id": "MONDO:1010087", "name": "Anti-tif1 dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anti-transcription intermediary factor 1 complex dermatomyositis"], "xref": ["GARD:0027226"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis characterized by the presence of anti-SAE autoantibodies.", "id": "MONDO:1010088", "name": "Anti-sae dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["anti-small ubiquitin-like modifier activating enzyme dermatomyositis"], "xref": ["GARD:0027227"]}
{"category": ["biolink:Disease"], "description": "A clinically amyopathic dermatomyositis with no subjective symptoms of skeletal muscle weakness but objective findings of muscle involvement (elevated aldolase level).", "id": "MONDO:1010089", "name": "Hypomyopathic dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HDM"], "xref": ["GARD:0027228", "icd11.foundation:619606071"]}
{"category": ["biolink:Disease"], "description": "A dermatomyositis with cutaneous features but no skeletal muscle weakness.", "id": "MONDO:1010096", "name": "Clinically amyopathic dermatomyositis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CADM"], "xref": ["GARD:0027229"]}
{"category": ["biolink:Disease"], "description": "Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene.", "id": "MONDO:1010097", "name": "Dhdds-related syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency.", "id": "MONDO:1010098", "name": "Tfap2b-related congenital heart disease spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TFAP2B-related PDA and Char syndrome spectrum disorder"]}
{"category": ["biolink:Disease"], "description": "A rare complication of hypothyroidism characterized by altered mental status, hypothermia, and symptoms related to the slowing of other organ systems.", "id": "MONDO:1010100", "name": "Myxedema coma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:536791", "UMLS:C0238298"]}
{"category": ["biolink:Disease"], "description": "A rare complication of hypothyroidism characterized by unexplained heart failure refractory to conventional treatment.", "id": "MONDO:1010108", "name": "Myxedema heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:526137", "UMLS:C0221048"]}
{"category": ["biolink:Disease"], "description": "A rare and debilitating renal pain disorder characterized by chronic, severe loin pain with or without micro- or macroscopic hematuria.", "id": "MONDO:1010111", "name": "Loin pain hematuria syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["LPHS"], "xref": ["MEDGEN:78696", "UMLS:C0268712"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by the height of an individual two standard deviations below the corresponding mean height for a given age, sex and population group with no known cause.", "id": "MONDO:1010112", "name": "Isolated short stature", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "The sudden unexpected death of an apparently healthy infant under one year of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, examination of the death scene, and review of the clinical history.", "id": "MONDO:1010116", "name": "Sudden unexpected infant death", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["accidental suffocation and strangulation in bed", "sudden infant death syndrome", "undetermined cause of death"]}
{"category": ["biolink:Disease"], "description": "The sudden unexpected death of a person age 1 to 18 years that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death.", "id": "MONDO:1010117", "name": "Sudden unexplained death in childhood", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:820021", "UMLS:C3827273"]}
{"category": ["biolink:Disease"], "description": "Sudden death in children  19 years of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death.", "id": "MONDO:1010120", "name": "Sudden unexpected death in pediatrics", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SUDP"]}
{"category": ["biolink:Disease"], "description": "Any form of vitiligo characterized by a tan zone of varying width between normal and depigmented skin. This intermediate tan zone has more inflammatory cells, Langerhans cells, and melanophages than vitiliginous or normal skin. The number of melanocytes is greater than in vitiliginous skin but fewer than in normal skin.", "id": "MONDO:1010122", "name": "Trichrome vitiligo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:697977", "SCTID:403270009", "UMLS:C1274649"]}
{"category": ["biolink:Disease"], "description": "Any form of vitiligo characterized by loss of pigment (depigmentation) in patches of skin all over the body.", "id": "MONDO:1010125", "name": "Generalized vitiligo", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["generalised vitiligo", "mixed vitiligo"], "xref": ["MEDGEN:725821", "UMLS:C1304470"]}
{"category": ["biolink:Disease"], "description": "Inflammation of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen).", "id": "MONDO:1010128", "name": "Peritonitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["peritoneum inflammation"], "xref": ["ICD10WHO:K65", "MEDGEN:14697", "MESH:D010538", "UMLS:C0031154", "icd11.foundation:775356003"]}
{"category": ["biolink:Disease"], "description": "A debilitating condition characterized by a fibrocollagenous membrane encasing the small intestine, resulting in recurrent small bowel obstructions.", "id": "MONDO:1010131", "name": "Encapsulating peritoneal sclerosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["EPS", "abdominal cocoon syndrome", "peritonitis chronica fibrosa incapsulata", "sclerosing encapsulating peritonitis"], "xref": ["MEDGEN:439295", "Orphanet:696175", "UMLS:C2717860", "icd11.foundation:1269928839"]}
{"category": ["biolink:Disease"], "description": "Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene.", "id": "MONDO:1010132", "name": "Aars1-related leukoencephalopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027336"]}
{"category": ["biolink:Disease"], "description": "Any congenital heart disease in which the cause of the disease is a mutation in the PLD1 gene.", "id": "MONDO:1010144", "name": "Pld1-related congenital heart disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PLD1-related congenital heart disease"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a monoallelic gain-of-function variation in the PIP5K1C gene leading to increased levels of phosphatidylinositol 4,5 bisphosphate. This disorder is characterized by intellectual disability, motor and speech delay, microcephaly, seizures, visual and ocular abnormalities, and craniofacial dysmorphic features.", "id": "MONDO:1010145", "name": "Pip5k1c-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PIP5K1C-related neurodevelopmental disorder"]}
{"category": ["biolink:Disease"], "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene.", "id": "MONDO:1010146", "name": "Cfap46-related primary ciliary dyskinesia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_respiratory_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CFAP46-related primary ciliary dyskinesia"], "xref": ["GARD:0028128"]}
{"category": ["biolink:Disease"], "description": "A benign mesenchymal neoplasm arising from skeletal muscle tissue.", "id": "MONDO:1010148", "name": "Benign skeletal muscle neoplasm", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["benign neoplasm of skeletal muscle", "benign neoplasm of the skeletal muscle", "benign skeletal muscle neoplasm", "benign skeletal muscle tumor", "benign tumor of skeletal muscle", "benign tumor of the skeletal muscle"], "xref": ["GARD:0028129", "MEDGEN:234035", "NCIT:C6515", "UMLS:C1332538"]}
{"category": ["biolink:Disease"], "description": "A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.", "id": "MONDO:1010150", "name": "Col4a1/a2-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["COL4A1/A2 syndrome", "Gould syndrome"]}
{"category": ["biolink:Disease"], "description": "Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance.", "id": "MONDO:1010152", "name": "Autosomal dominant nebulin-related myopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["autosomal dominant nebulin-related myopathy"], "xref": ["GARD:0028130"]}
{"category": ["biolink:Disease"], "description": "Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.", "id": "MONDO:1010154", "name": "Adult hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["adult hypophosphatasia", "hypophosphatasia of adults"], "xref": ["DOID:0110913", "GARD:0028131", "MEDGEN:120636", "OMIM:146300", "Orphanet:247676", "SCTID:20756002", "UMLS:C0268413"]}
{"category": ["biolink:Disease"], "description": "Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.", "id": "MONDO:1010168", "name": "Childhood hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["childhood hypophosphatasia", "hypophosphatasia of childhood", "pediatric hypophosphatasia"], "xref": ["DOID:0110915", "GARD:0028132", "MEDGEN:65089", "MESH:C562440", "OMIM:241510", "Orphanet:247667", "SCTID:30174008", "UMLS:C0220743"]}
{"category": ["biolink:Disease"], "description": "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.", "id": "MONDO:1010169", "name": "Infantile hypophosphatasia", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "synonym": ["infantile hypophosphatasia"], "xref": ["DOID:0110914", "GARD:0028133", "MEDGEN:75677", "OMIM:241500", "Orphanet:247651", "SCTID:55236002", "UMLS:C0268412", "icd11.foundation:1832803655"]}
{"category": ["biolink:Disease"], "description": "A combined immunodeficiency in which the cause of the disease is a variation in the IRF4 gene.", "id": "MONDO:1010173", "name": "Irf4-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IRF4-related combined immunodeficiency"], "xref": ["GARD:0028134"]}
{"category": ["biolink:Disease"], "description": "A combined immunodeficiency in which the cause of the disease is a variation in the NFATC1 gene.", "id": "MONDO:1010174", "name": "Nfatc1-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["NFATC1-related combined immunodeficiency"], "xref": ["GARD:0028135"]}
{"category": ["biolink:Disease"], "description": "A non-severe combined immunodeficiency due to polymerase delta deficiency in which the cause of the disease is a variation in the POLD2 gene.", "id": "MONDO:1010175", "name": "Pold2-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["POLD2-related combined immunodeficiency"], "xref": ["GARD:0028136"]}
{"category": ["biolink:Disease"], "description": "A combined immunodeficiency in which the cause of the disease is a variation in the POLD3 gene.", "id": "MONDO:1010176", "name": "Pold3-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["POLD3-related combined immunodeficiency"], "xref": ["GARD:0028137"]}
{"category": ["biolink:Disease"], "description": "A combined immunodeficiency syndrome in which the cause of the disease is a variation in the IKZF2 gene.", "id": "MONDO:1010177", "name": "Ikzf2-related combined immunodeficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["Helios-related immunodeficiency", "IKZF2-related combined immunodeficiency"], "xref": ["GARD:0028138"]}
{"category": ["biolink:Disease"], "description": "A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.", "id": "MONDO:1010178", "name": "Chd7-related charge syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CHARGE syndrome due to CHD7 deficiency", "CHD7-related CHARGE syndrome"], "xref": ["GARD:0028139", "OMIM:214800"]}
{"category": ["biolink:Disease"], "description": "Any diabetes mellitus caused by an inability of the pancreas to produce enough insulin due to underdeveloped pancreatic tissue resulting from prolonged undernutrition.", "id": "MONDO:1010179", "name": "Type 5 diabetes mellitus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MRDM", "malnutrition-related diabetes mellitus"]}
{"category": ["biolink:Disease"], "description": "Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation.", "id": "MONDO:1010180", "name": "Cardiogenetic rhythm disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["cardiogenetic rhythm disorder"]}
{"category": ["biolink:Disease"], "description": "A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome.", "id": "MONDO:1010181", "name": "Scn5a-related cardiac rhythm disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SCN5A-related cardiac rhythm disorder"]}
{"category": ["biolink:Disease"], "description": "A severe form of premenstrual syndrome (PMS) that involves significant emotional and physical symptoms in the week or two before a period.", "id": "MONDO:1010182", "name": "Premenstrual dysphoric disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PMDD"], "xref": ["MEDGEN:636161", "UMLS:C0520676"]}
{"category": ["biolink:Disease"], "description": "A macular telangiectasia that causes slow deterioration of central vision, typically appearing in people between the ages of 50 and 60. It is characterized by the dilation and leakage of blood vessels in the macula, the part of the retina responsible for sharp, detailed vision, and is also linked to neurodegeneration in retinal cells.", "id": "MONDO:1010183", "name": "Macular telangiectasia type 2", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MacTel type 2", "MacTel2"], "xref": ["MEDGEN:1690677", "UMLS:C5232269"]}
{"category": ["biolink:Disease"], "description": "An eye disorder characterized by retinal capillary network incompetence, dilatations, and thinning which can be uniocular or binocular and causes gradual deterioration of central vision.", "id": "MONDO:1010184", "name": "Macular telangiectasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:573180", "UMLS:C0339480"]}
{"category": ["biolink:Disease"], "description": "A disease related to transplantation that occurs when transplant tissue is rejected by the recipient's immune system, which destroys the transplanted tissue.", "id": "MONDO:1010185", "name": "Transplant rejection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["host versus graft disease", "host vs graft disease"], "xref": ["MEDGEN:6662", "UMLS:C0018129"]}
{"category": ["biolink:Disease"], "description": "A transplant rejection that appears in the first minutes following transplantation and occurs only in vascularized grafts. This very fast rejection is characterized by vessels thrombosis leading to graft necrosis. Hyperacute rejection is caused by the presence of antidonor antibodies existing in the recipient before transplantation. These antibodies induce both complement activation and stimulation of endothelial cells to secrete Von Willebrand procoagulant factor, resulting in platelet adhesion and aggregation. The result of these series of reactions is the generation of intravascular thrombosis leading to lesion formation and ultimately to graft loss.", "id": "MONDO:1010186", "name": "Hyperacute transplant rejection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A transplant rejection that is caused by an immune response directed against the graft and occurs between 1 week and several months after transplantation. Acute rejection is diagnosed on histological analysis of a graft biopsy. Acute rejection is thought to result from two immunological mechanisms that may act alone or in combination: (1) a T-cell-dependent process that corresponds to acute cellular rejection, and (2) a B-cell-dependent process that generates the acute humoral rejection.", "id": "MONDO:1010187", "name": "Acute transplant rejection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:inferred_rare", "mondo:mondo_top_grouping_acute_disease", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "An insidious form of transplant rejection that leads to graft destruction over months to years after tissue transplantation. Chronic rejection can be mediated by either humoral or cellular mechanisms linked to memory/plasma cells and antibodies. The presence of tertiary lymphoid organs in the graft is a characteristic of this form of rejection.", "id": "MONDO:1010188", "name": "Chronic transplant rejection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"]}
{"category": ["biolink:Disease"], "description": "A genetically heterogeneous cardiac disorder caused by pathogenic variants in the TNNT2 gene and inherited in an autosomal dominant manner. Affected individuals present with a spectrum of cardiomyopathy phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Clinical features may include heart failure, ventricular arrhythmias, and sudden cardiac death. Overlapping or mixed cardiomyopathy phenotypes, as well as variable expressivity within families, have also been reported.", "id": "MONDO:1010193", "name": "Tnnt2-related cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TNNT2-related cardiomyopathy"]}
{"category": ["biolink:Disease"], "description": "Any neuromyopathy in which the cause of the disease is mutation in the KY gene.", "id": "MONDO:1010194", "name": "Ky-related neuromyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KY-related neuromyopathy"]}
{"category": ["biolink:Disease"], "description": "Any inherited oocyte maturation defect marked by early embryonic arrest and female infertility due to a varition in the PADI6 gene.", "id": "MONDO:1010200", "name": "Oocyte/zygote/embryo maturation arrest 16", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PADI6 preimplantation embryonic lethality", "PADI6-related oocyte/zygote/embryo maturation arrest 16 and maternal-effect disorder", "PREMBL2", "preimplantation embryonic lethality type 2"], "xref": ["OMIM:617234"]}
{"category": ["biolink:Disease"], "description": "A predisposition to medulloblastoma, a tumor that originates in the cerebellum and dorsal brainstem, has a peak incidence in childhood, and makes up a large proportion of embryonal brain tumors due to a variation in the GPR161 gene.", "id": "MONDO:1010204", "name": "Gpr161-related medulloblastoma predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["GPR161-related medulloblastoma predisposition"]}
{"category": ["biolink:Disease"], "description": "A tick-borne infectious disease transmitted by the lone star tick, Amblyomma americanum, and causing an erythema migrans–like rash with or without mild constitutional symptoms.", "id": "MONDO:1010205", "name": "Southern tick-associated rash illness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Masters disease", "STARI"], "xref": ["NCIT:C128427", "SCTID:444100007"]}
{"category": ["biolink:Disease"], "id": "MONDO:1012958", "medic_stub": true, "name": "atactic disorder, non-human animal", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "description": "Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.", "id": "MONDO:1030000", "name": "Hyperinsulinemic hypoglycemia with polycystic kidney disease", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HIPKD"], "xref": ["GARD:0027111"]}
{"category": ["biolink:Disease"], "description": "A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.", "id": "MONDO:1030002", "name": "Dysplasia of the proximal femoral epiphyses", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027112", "MEDGEN:481394", "UMLS:C3279764"]}
{"category": ["biolink:Disease"], "description": "A disease caused by infection with Mycoplasmoides.", "id": "MONDO:1030003", "name": "Mycoplasmoides infection", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["mycoplasmosis"]}
{"category": ["biolink:Disease"], "description": "A rare clinical disorder characterized by at least three recurrent episodes of meningitis associated with spontaneous recovery with or without antiviral therapy. Herpes simplex virus type 2 has frequently been implicated in the setting of this illness. RBLM is rare with prevalence rates estimated at 2 per 100,000 persons.", "id": "MONDO:1030004", "name": "Mollaret’s meningitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["RBLM", "recurrent benign lymphocytic meningitis"], "xref": ["GARD:0027230"]}
{"category": ["biolink:Disease"], "description": "A somatic mosaic condition caused by a postzygotic mutation (c.1234 CT p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo‐ or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb‐length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism.", "id": "MONDO:1030005", "name": "Mosaic smo syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027231"]}
{"category": ["biolink:Disease"], "description": "Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234CT, p.Leu412Phe).", "id": "MONDO:1030006", "name": "Happle-tinschert syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HTS"], "xref": ["GARD:0027232"]}
{"category": ["biolink:Disease"], "description": "A hypertensive disorder that is characterized by marked elevation in blood pressure, such as systolic blood pressure greater than 180 mmHg or diastolic blood pressure greater than 110 mmHg, and without evidence of target organ damage, such as pulmonary edema, cardiac ischemia, neurologic deficits, or acute renal failure.", "id": "MONDO:1030007", "name": "Hypertensive urgency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["hypertensive crisis without acute organ damage", "severely elevated blood pressure without acute organ damage"], "xref": ["MEDGEN:677063", "NCIT:C197914", "SCTID:443482000", "UMLS:C0745138", "icd11.foundation:956687992"]}
{"category": ["biolink:Disease"], "description": "A mitral valve disorder characterized by incomplete valve closure.", "id": "MONDO:1030008", "name": "Mitral valve insufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["insufficiency, mitral", "mitral insufficiency", "mitral valve incompetence", "mitral valve insufficiency/ regurgitation"], "xref": ["DOID:11502", "MEDGEN:7670", "MESH:D008944", "NCIT:C50888", "UMLS:C0026266", "icd11.foundation:637470326"]}
{"category": ["biolink:Disease"], "description": "An atrial fibrillation disorder characterized by continuous atrial fibrillation that lasts for more than seven days.", "id": "MONDO:1030009", "name": "Persistent atrial fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["persistent AF"], "xref": ["ICD10CM:I48.1", "MEDGEN:749907", "SCTID:440059007", "UMLS:C2585653", "icd11.foundation:519924384"]}
{"category": ["biolink:Disease"], "description": "A cerebrovascular disorder characterized by an abnormal narrowing of a precerebral artery.", "id": "MONDO:1030010", "name": "Precerebral artery stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["narrowing of precerebral artery"], "xref": ["ICD10CM:I65", "MEDGEN:539068", "SCTID:1055001", "UMLS:C0265089"]}
{"category": ["biolink:Disease"], "description": "An atrial fibrillation disorder characterized by intermittent atrial fibrillation that lasts less than seven days from onset.", "id": "MONDO:1030011", "name": "Paroxysmal atrial fibrillation", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["paroxymsal AFib", "paroxysmal AF"], "xref": ["ICD10CM:I48.0", "MEDGEN:115990", "NCIT:C80391", "SCTID:282825002", "UMLS:C0235480", "icd11.foundation:542703670"]}
{"category": ["biolink:Disease"], "description": "A porphyria disorder that is acquired during the lifetime of the individual.", "id": "MONDO:1030015", "name": "Acquired porphyria", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1853291", "UMLS:C0948592"]}
{"category": ["biolink:Disease"], "description": "A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue.", "id": "MONDO:1030016", "name": "22q-related schwannomatosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "xref": ["GARD:0028140"]}
{"category": ["biolink:Disease"], "description": "Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting.", "id": "MONDO:1040001", "name": "Tp63-related ectodermal dysplasia spectrum with limb and orofacial malformations", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028141"]}
{"category": ["biolink:Disease"], "description": "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic", "id": "MONDO:1040002", "name": "Pik3ca-related overgrowth spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027113", "MEDGEN:1790024", "UMLS:C4728213"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms.", "id": "MONDO:1040003", "name": "Kcnd2-related neurodevelopmental disorder with or without seizures", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic", "id": "MONDO:1040004", "name": "Pik3r2-related overgrowth spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027114"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities.", "id": "MONDO:1040005", "name": "Prpf19-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism.", "id": "MONDO:1040006", "name": "Ctr9-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A rare congenital brain disorder characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. The presumed cause is a prenatal vascular disruption with occlusion of the carotid artery territories ipsilateral to the damaged brain.", "id": "MONDO:1040007", "name": "Hemihydranencephaly", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["hemi-hydranencephaly"], "xref": ["GARD:0027337", "MEDGEN:199609", "UMLS:C0751210", "icd11.foundation:642941159"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the CAMK2D gene. This disorder is characterised by intellectual disability, speech and motor delay, behavioural problems and dilated cardiomyopathy. Patients often present brain structural anomalies and hypotonia, and less frequently, seizures.", "id": "MONDO:1040008", "name": "Camk2d-related neurodevelopmental disorder and dilated cardiomyopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes.", "id": "MONDO:1040009", "name": "Trip11-related skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene.", "id": "MONDO:1040010", "name": "Irf6-related condition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A human disorder which results from a tear in one of the major cervicocerebral arteries, allowing blood to enter the wall of the artery and split its layers. Pathogenesis typically leads to either stenosis or aneurysmal dilatation of the vessel.", "id": "MONDO:1040011", "name": "Vertebral artery dissection", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["VAD"], "xref": ["GARD:0027438", "MEDGEN:137904", "Orphanet:689001", "UMLS:C0338586"]}
{"category": ["biolink:Disease"], "description": "Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.", "id": "MONDO:1040012", "name": "Pi4ka-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027233"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.", "id": "MONDO:1040014", "name": "Ppfia3-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["OMIM:621122"]}
{"category": ["biolink:Disease"], "description": "An infectious disease characterized by life-threatening organ dysfunction due to a dysreguated host response.", "id": "MONDO:1040015", "name": "Infectious disease with sepsis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A cerebrovascular disorder characterized by an abnormal narrowing of a cerebral artery.", "id": "MONDO:1040016", "name": "Cerebral artery stenosis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:760198", "UMLS:C1504438"]}
{"category": ["biolink:Disease"], "description": "An intestinal disorder characterized by an opening in the intestine to some epithelial surface.", "id": "MONDO:1040017", "name": "Intestinal fistula", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:5862", "UMLS:C0021833"]}
{"category": ["biolink:Disease"], "description": "A disorder that is transmitted via X-linked inheritance and involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.", "id": "MONDO:1040018", "name": "X-linked syndromic complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027338"]}
{"category": ["biolink:Disease"], "description": "A bacterial disease caused by infection with Enterococcus.", "id": "MONDO:1040019", "name": "Enterococcus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Enterococcus caused disease or disorder"]}
{"category": ["biolink:Disease"], "description": "A bacterial infectious disease caused by methicillin-susceptible staphylococcus aureus.", "id": "MONDO:1040020", "name": "Methicillin-susceptible staphylococcus aureus infectious disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match"]}
{"category": ["biolink:Disease"], "description": "Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.", "id": "MONDO:1040021", "name": "Congenital myasthenic syndrome 4", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027234"]}
{"category": ["biolink:Disease"], "description": "Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region.", "id": "MONDO:1040022", "name": "Linkeropathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities.", "id": "MONDO:1040023", "name": "Ndufb11-related disorders", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A demyelinating disease of the central nervous system characterized by the presence of a demyelinating event (optic neuritis, myelitis, acute/multiphasic encephalomyelitis, cerebral or polyfocal deficits, brainstem or cerebellar deficits, and/or cerebral cortical encephalitis), a positive myelin oligodendrocyte glycorotein-IgG test, and exclusion of an alternative diagnosis like MS.", "id": "MONDO:1040024", "name": "Myelin oligodendrocyte glycoprotein antibody-associated disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:1813985", "UMLS:C5554054"]}
{"category": ["biolink:Disease"], "description": "A malignant neoplasm that has spread to the brain from another anatomic site.", "id": "MONDO:1040026", "name": "Metastatic malignant neoplasm in the brain", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028142", "MEDGEN:113095", "UMLS:C0220650"]}
{"category": ["biolink:Disease"], "description": "An array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily function may occur as well. These diseases are scored using the Beighton scoring system and one of more secondary musculoskeletal manifestations including post-traumatic symptoms, pain, altered proprioception, and a variety of other characteristics like pes planus, kyphosis, scoliosis, or joint misalignment.", "id": "MONDO:1040027", "name": "Hypermobility spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["BJHS", "benign joint hypermobility syndrome"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the PDE6C gene.", "id": "MONDO:1040028", "name": "Pde6c-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PDE6C-related retinopathy"], "xref": ["GARD:0027235"]}
{"category": ["biolink:Disease"], "description": "An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene.", "id": "MONDO:1040029", "name": "Sharpin-related autoinflammatory syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["sharpenia"], "xref": ["GARD:0027236"]}
{"category": ["biolink:Disease"], "description": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes.", "id": "MONDO:1040031", "name": "Dyneinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027115"]}
{"category": ["biolink:Disease"], "description": "A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.", "id": "MONDO:1040032", "name": "En1-related dorsoventral syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["ENDOVE syndrome", "ENDOVES"], "xref": ["GARD:0027116", "MEDGEN:1843345", "Orphanet:611223", "UMLS:C5680225"]}
{"category": ["biolink:Disease"], "description": "A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.", "id": "MONDO:1040033", "name": "Congenital muscular dystrophy without intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CMD without intellectual disability", "CMD-no MR", "congenital muscular dystrophy-dystroglycanopathy without intellectual disability"], "xref": ["GARD:0027117", "MEDGEN:1681503", "Orphanet:370980", "UMLS:C5190847"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the PDE6G gene.", "id": "MONDO:1040034", "name": "Pde6g-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PDE6G-related retinopathy"], "xref": ["GARD:0027237"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the LRIT3 gene.", "id": "MONDO:1040035", "name": "Lrit3-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LRIT3-related retinopathy"], "xref": ["GARD:0027238"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by an autosomal dominant variant in the IMPG1 gene.", "id": "MONDO:1040036", "name": "Impg1-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMPG1-related dominant retinopathy"], "xref": ["GARD:0027239"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by autosomal recessive variants in the IMPG1 gene.", "id": "MONDO:1040037", "name": "Impg1-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMPG1-related recessive retinopathy"], "xref": ["GARD:0027240"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the TTLL5 gene.", "id": "MONDO:1040038", "name": "Ttll5-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TTLL5-related retinopathy"], "xref": ["GARD:0027241"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.", "id": "MONDO:1040039", "name": "Ofd1-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["OFD1-related ciliopathy"], "xref": ["GARD:0028143"]}
{"category": ["biolink:Disease"], "description": "Any isolated retinopathy caused by variants in the HGSNAT gene.", "id": "MONDO:1040040", "name": "Hgsnat-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HGSNAT-related retinopathy"], "xref": ["GARD:0027242"]}
{"category": ["biolink:Disease"], "description": "Any exudative vitreoretinopathy caused by a variant in the FZD4 gene.", "id": "MONDO:1040041", "name": "Fzd4-related exudative vitreoretinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FZD4-related exudative vitreoretinopathy"], "xref": ["GARD:0027243"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS7 gene.", "id": "MONDO:1040042", "name": "Bbs7-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS7-related ciliopathy"], "xref": ["GARD:0027244"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS1 gene.", "id": "MONDO:1040043", "name": "Bbs1-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS1-related ciliopathy"], "xref": ["GARD:0027245"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS4 gene.", "id": "MONDO:1040044", "name": "Bbs4-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS4-related ciliopathy"], "xref": ["GARD:0027246"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS12 gene.", "id": "MONDO:1040045", "name": "Bbs12-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS12-related ciliopathy"], "xref": ["GARD:0027247"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the LZTFL1 gene.", "id": "MONDO:1040046", "name": "Lztfl1-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LZTFL1-related ciliopathy"], "xref": ["GARD:0027248"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS5 gene.", "id": "MONDO:1040047", "name": "Bbs5-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS5-related ciliopathy"], "xref": ["GARD:0027249"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the BBS2 gene.", "id": "MONDO:1040048", "name": "Bbs2-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BBS2-related ciliopathy"], "xref": ["GARD:0027250"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the TTC8 gene.", "id": "MONDO:1040049", "name": "Ttc8-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TTC8-related ciliopathy"], "xref": ["GARD:0027251"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the MKKS gene.", "id": "MONDO:1040050", "name": "Mkks-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MKKS-related ciliopathy"], "xref": ["GARD:0027252"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the IMPDH1 gene.", "id": "MONDO:1040051", "name": "Impdh1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["IMPDH1-related retinopathy"], "xref": ["GARD:0027253"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by autosomal recessive variants in the PROM1 gene.", "id": "MONDO:1040052", "name": "Prom1-related recessive retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PROM1-related recessive retinopathy"], "xref": ["GARD:0027254"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by an autosomal dominant variant in the PROM1 gene.", "id": "MONDO:1040053", "name": "Prom1-related dominant retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PROM1-related dominant retinopathy"], "xref": ["GARD:0027255"]}
{"category": ["biolink:Disease"], "description": "Any congenital disorder of glycosylation caused by variants in the DHDDS gene.", "id": "MONDO:1040054", "name": "Dhdds-cdg", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["DHDDS-CDG"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant or variants in the PRPH2 gene.", "id": "MONDO:1040055", "name": "Prph2-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PRPH2-related retinopathy"], "xref": ["GARD:0027257"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the PROM1 gene.", "id": "MONDO:1040056", "name": "Prom1-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027258"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the KCNV2 gene.", "id": "MONDO:1040063", "name": "Kcnv2-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["KCNV2-related retinopathy"], "xref": ["GARD:0028144"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by a variant in the CRX gene.", "id": "MONDO:1040064", "name": "Crx-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CRX-related retinopathy"], "xref": ["GARD:0028145"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the ARL6 gene.", "id": "MONDO:1040065", "name": "Arl6-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ARL6-related ciliopathy"], "xref": ["GARD:0028146"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the REEP6 gene.", "id": "MONDO:1040066", "name": "Reep6-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["REEP6-related retinopathy"], "xref": ["GARD:0028147"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the MKS1 gene.", "id": "MONDO:1040068", "name": "Mks1-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["MKS1-related ciliopathy"], "xref": ["GARD:0028148"]}
{"category": ["biolink:Disease"], "description": "Any retinopathy caused by variants in the SPATA7 gene.", "id": "MONDO:1040070", "name": "Spata7-related retinopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SPATA7-related retinopathy"], "xref": ["GARD:0028149"]}
{"category": ["biolink:Disease"], "description": "Folliculitis of the beard and/or mustache areas caused by a bacterial infection, usually caused by Staphylococcus aureus.", "id": "MONDO:1050000", "name": "Sycosis barbae", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:546837", "MedDRA:10042731", "SCTID:156410002", "UMLS:C0275798", "icd11.foundation:1245506993"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis characterized by the presence of autoantibodies against the muscle nicotinic acetylcholine receptor (AChR) in the serum, which damage the postsynaptic neuromuscular junction and cause skeletal muscle weakness and fatigue.", "id": "MONDO:1060001", "name": "Achr+ myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis in which the muscles around the eyes are affected, that typically presents with ptosis and/or diplopia due to ophthalmoplegia", "id": "MONDO:1060002", "name": "Ocular myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["OMG", "ocular myasthenia"], "xref": ["SCTID:230684008"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis characterized by the presence of autoantibodies against muscle-specific tyrosine kinase (MuSK) in the serum", "id": "MONDO:1060003", "name": "Muscle-specific tyrosine kinase-associated myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MuSK+ myasthenia gravis", "myasthenia gravis caused by muscle-specific tyrosine kinase antibodies"], "xref": ["SCTID:521000146105"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis characterized by the absence of detectable pathogenic auto-antibodies against acetylcholine receptor (AChR), muscle-specific tyrosine kinases (MuSK), and/or low-density lipoprotein receptor-related protein 4 (LRP4) in the sera.", "id": "MONDO:1060004", "name": "Seronegative myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SnMG"]}
{"category": ["biolink:Disease"], "description": "Myasthenia gravis in which muscle weakness affects one or more skeletal muscle groups outside the extraocular muscles", "id": "MONDO:1060006", "name": "Generalized myasthenia gravis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["gMG", "generalized myasthenia"], "xref": ["SCTID:230686005"]}
{"category": ["biolink:Disease"], "description": "Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.", "id": "MONDO:1060107", "name": "Cyp7b1-related disorder of oxysterol accumulation", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CYP7B1-related disorder of oxysterol accumulation"], "xref": ["GARD:0027439"]}
{"category": ["biolink:Disease"], "description": "A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.", "id": "MONDO:1060108", "name": "Pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["PURA-related neurodevelopmental disorders"], "xref": ["GARD:0027440", "MEDGEN:863794", "Orphanet:438213", "UMLS:C4015357"]}
{"category": ["biolink:Disease"], "description": "A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.", "id": "MONDO:1060109", "name": "Plec-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by haploinsufficiency of HDAC4 and is characterized by brachydactyly type E, variable mild to moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Individuals with the gain of functions variants typically do not have brachydactyly and do have more consistent intellectual disability.", "id": "MONDO:1060110", "name": "Hdac4-related haploinsufficiency syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["HDAC4-related haploinsufficiency syndrome"]}
{"category": ["biolink:Disease"], "description": "A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.", "id": "MONDO:1060111", "name": "Samd9l-related spectrum and myeloid neoplasm risk", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_mondo"], "synonym": ["SAMD9L-related spectrum and myeloid neoplasm risk"], "xref": ["GARD:0028150"]}
{"category": ["biolink:Disease"], "description": "A genital ulcer characterized by the rapid onset of painful, necrotic ulcerations of the vulva or lower vagina. It typically occurs in sexually inactive adolescent females or young females and may be preceded by influenza-like or mononucleosis-like symptoms. Acute genital ulceration has been associated with acute Epstein-Barr virus (EBV) infection or other viral and bacterial infections. However, in many cases a cause cannot be determined.", "id": "MONDO:1060113", "name": "Lipschütz ulcer", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["Lipschütz ulcer", "acute genital ulcer"], "xref": ["MEDGEN:547076", "UMLS:C0276086"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia.", "id": "MONDO:1060115", "name": "Tubb4b-related ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TUBB4B-related ciliopathy"], "xref": ["GARD:0028151"]}
{"category": ["biolink:Disease"], "description": "Any mitochondrial disorder in which the cause of the disease is a mutation in the FDXR gene.", "id": "MONDO:1060116", "name": "Fdxr-related optic atrophy mitochondrial dysfunction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FDXR-related optic atrophy mitochondrial dysfunction syndrome"], "xref": ["GARD:0028152"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features.", "id": "MONDO:1060117", "name": "Mycbp2-related developmental delay with corpus callosum defects", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MDCD", "MYCBP2-related developmental delay with corpus callosum defects"]}
{"category": ["biolink:Disease"], "description": "An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.", "id": "MONDO:1060120", "name": "Aco2-related optic atrophy with or without extraocular features", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_mitochondrial_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ACO2-related optic atrophy with or without extraocular features"], "xref": ["GARD:0028153"]}
{"category": ["biolink:Disease"], "description": "An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells.", "id": "MONDO:1060121", "name": "Adenoacanthoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["adenoacanthoma", "adenocarcinoma with squamous metaplasia"], "xref": ["MEDGEN:90777", "UMLS:C0334393"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disease caused by variants in the ALG8 gene that is characterized by incomplete penetrance and a range of clinical manifestations, spanning from individuals with normal kidneys to those with numerous kidney cysts and chronic kidney disease (CKD). While the common presentation involves a limited number of kidney cysts and maintained kidney function, severe polycystic liver disease (PLD) with minimal kidney involvement (ADPLD) can also occur.", "id": "MONDO:1060122", "name": "Alg8-related autosomal dominant polycystic kidney and/or liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ADPKLD-ALG8", "autosomal dominant polycystic kidney and/or liver disease-ALG8"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria.", "id": "MONDO:1060123", "name": "Grin1-related complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GRIN1-related developmental and epileptic encephalopathy", "GRIN1-related neurodevelopmental disorder"], "xref": ["GARD:0028154"]}
{"category": ["biolink:Disease"], "description": "A rare, life-threatening fetal condition resulting complete or partial obstruction of the fetal upper airways. Laryngeal atresia is the most frequent cause, but other etiologies, such as laryngeal cyst, subglottic stenosis or atresia, tracheal atresia, and laryngeal or tracheal agenesis are also included.", "id": "MONDO:1060125", "name": "Congenital high airway obstruction syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["CHAOS"], "xref": ["GARD:0027441", "MEDGEN:1875656", "Orphanet:700286", "UMLS:C3665871"]}
{"category": ["biolink:Disease"], "description": "A form of Cushing syndrome caused by prolonged exposure or excessive use of cortisteroids, usually from medications taken to treat other conditions.", "id": "MONDO:1060126", "name": "Exogenous cushing syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["exogenous Cushing’s syndrome", "iatrogenic Cushing's syndrome"], "xref": ["GARD:0028155", "MEDGEN:543520", "UMLS:C0271725"]}
{"category": ["biolink:Disease"], "description": "Any orofacial cleft in which the cause of the disease is a mutation in the ARHGAP29 gene.", "id": "MONDO:1060132", "name": "Arhgap29-related non-syndromic orofacial cleft", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any cardiovascular disease resulting from atherosclerosis.", "id": "MONDO:1060134", "name": "Atherosclerotic cardiovascular disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["NCIT:C35771"]}
{"category": ["biolink:Disease"], "description": "A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features.", "id": "MONDO:1060136", "name": "Pik3r1-related immunodeficiency and short syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved.", "id": "MONDO:1060138", "name": "Grin-related complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GRIN-related encephalopathy", "GRIN-related neurodevelopmental disorder", "GRINpathies"], "xref": ["GARD:0028156"]}
{"category": ["biolink:Disease"], "description": "A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features.", "id": "MONDO:1060139", "name": "Grin2a-related complex neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028157"]}
{"category": ["biolink:Disease"], "description": "Any developmental and/or epileptic encephalopathy with spike-wave activation in sleep in which the cause of the disease is a variation in GRIN2A gene.", "id": "MONDO:1060140", "name": "Grin2a-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028158"]}
{"category": ["biolink:Disease"], "description": "Any rolandic epilepsy-speech dyspraxia syndrome in which the cause of the disease is a variation in GRIN2A gene.", "id": "MONDO:1060141", "name": "Grin2a-related rolandic epilepsy-speech dyspraxia syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028159"]}
{"category": ["biolink:Disease"], "description": "Any self-limited epilepsy with centrotemporal spikes in which the cause of the disease is a variation in GRIN2A gene.", "id": "MONDO:1060142", "name": "Grin2a-related self-limited epilepsy with centrotemporal spikes", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028160"]}
{"category": ["biolink:Disease"], "description": "A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss.", "id": "MONDO:1060144", "name": "Retinitis pigmentosa 7, digenic", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028161", "MEDGEN:393414", "UMLS:C2675552"]}
{"category": ["biolink:Disease"], "description": "A Leber congenital amaurosis that is caused by a variation in the PRPH2 gene.", "id": "MONDO:1060145", "name": "Leber congenital amaurosis 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["LCA18"], "xref": ["GARD:0028162", "MEDGEN:861539", "UMLS:C4013102"]}
{"category": ["biolink:Disease"], "description": "Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR1 gene.", "id": "MONDO:1060146", "name": "Fgfr1-related pfeiffer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FGFR1-related Pfeiffer syndrome"], "xref": ["GARD:0028163"]}
{"category": ["biolink:Disease"], "description": "Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR2 gene.", "id": "MONDO:1060147", "name": "Fgfr2-related pfeiffer syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FGFR2-related Pfeiffer syndrome"], "xref": ["GARD:0028164"]}
{"category": ["biolink:Disease"], "description": "A rare iatrogenic disease characterized by paradoxical nasal obstruction and symptoms including air hunger and suffocation-like breathing sensation, nasal dryness and crusting, burning pain or cold airflow sensation, impaired sleep and cognitive function and severe anxiety and depression, and typically occurs after surgical reduction or removal of nasal turbinates.", "id": "MONDO:1060148", "name": "Empty nose syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_iatrogenic_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:harrisons_view_respiratory_system_disorder", "mondo:mondo_curated_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ENS", "post-turbinectomy syndrome", "secondary atrophic rhinitis"], "xref": ["GARD:0028165", "MEDGEN:1876481", "UMLS:C3888849"]}
{"category": ["biolink:Disease"], "description": "A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type.", "id": "MONDO:1060149", "name": "Acan-related short stature spectrum", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects).", "id": "MONDO:1060150", "name": "Notch1-related aos spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A schizoaffective disorder marked by episodes of hypomania or mania and sometimes major depression.", "id": "MONDO:1060151", "name": "Schizoaffective bipolar disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["schizoaffective disorder bipolar type"], "xref": ["MEDGEN:542781", "UMLS:C0270496"]}
{"category": ["biolink:Disease"], "description": "A schizoaffective disorder marked by episodes of only major depression.", "id": "MONDO:1060152", "name": "Schizoaffective depressive disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["schizoaffective disorder depressive type"], "xref": ["MEDGEN:542782", "UMLS:C0270497"]}
{"category": ["biolink:Disease"], "description": "A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene.", "id": "MONDO:1060153", "name": "Multiple symmetric lipomatosis with partial lipodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028166"]}
{"category": ["biolink:Disease"], "description": "A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.", "id": "MONDO:1060154", "name": "Intu-related skeletal ciliopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028167"]}
{"category": ["biolink:Disease"], "description": "A movement disorder characterized by having one or more different types of movement disorders, such as abnormal muscle tone, abnormal degree of movement, dystonia or torsion, which may occur with or without neurodevelopmental features, such as developmental delay or intellectual disability.", "id": "MONDO:1060159", "name": "Complex movement disorder with or without neurodevelopmental features", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["complex movement disorder with or without neurodevelopmental features"]}
{"category": ["biolink:Disease"], "description": "A form of distal renal tubular acidosis that is inherited.", "id": "MONDO:1060161", "name": "Inherited distal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028168", "OMIMPS:179800"]}
{"category": ["biolink:Disease"], "description": "A form of distal renal tular acidosis that develops secondary to another condition, usually disease or drug.", "id": "MONDO:1060162", "name": "Acquired distal renal tubular acidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_member", "mondo:harrisons_view_urinary_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028169"]}
{"category": ["biolink:Disease"], "description": "Any neutropenia in which the cause of the disease is a mutation in the ELANE gene.", "id": "MONDO:1060165", "name": "Elane-related neutropenia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028170"]}
{"category": ["biolink:Disease"], "description": "A rare autoimmune disease of early childhood, marked by the simultaneous or sequential immune attack on red blood cells and liver cells.", "id": "MONDO:1060166", "name": "Giant cell hepatitis with autoimmune hemolytic anemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["GCH-AHA", "giant cell hepatitis associated with autoimmune hemolytic anemia", "giant cell hepatitis with autoimmune haemolytic anaemia"], "xref": ["GARD:0028171"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the HAVCR2 gene, which confers the predisposition to susceptibility to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and hemophagocytic lymphohistiocytosis (HLH). Affected individuals typically present with multiple subcutaneous nodules and systemic B symptoms.", "id": "MONDO:1060169", "name": "Havcr2-related cancer predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["HAVCR2-related SPTCL and/or HLH predisposition", "HAVCR2-related subcutaneous panniculitis-like T-cell lymphoma and/or hemophagocytic lymphohistiocytosis predisposition"], "xref": ["GARD:0028172"]}
{"category": ["biolink:Disease"], "description": "A diffuse midline glioma characterized by H3 K27 alteration and usually either a histone H3 K27M mutation, an EGFR mutation, or aberrant overexpression of EZHIP. The prognosis is poor.", "id": "MONDO:1060171", "name": "Diffuse midline glioma, h3 k27-altered", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DMG, H3 K27-altered"], "xref": ["GARD:0028173", "MEDGEN:1811313", "NCIT:C185368", "UMLS:C5669877"]}
{"category": ["biolink:Disease"], "description": "Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene.", "id": "MONDO:1060172", "name": "Fam111a-related skeletal dysplasia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FAM111A-related skeletal dysplasia"], "xref": ["GARD:0028174"]}
{"category": ["biolink:Disease"], "description": "Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene.", "id": "MONDO:1060173", "name": "Flnb-associated autosomal dominant filamin related bone disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FLNB-associated autosomal dominant filamin related bone disorder"], "xref": ["GARD:0028175"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QA gene.", "id": "MONDO:1060174", "name": "Systemic lupus erythematosus related to c1qa", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["systemic lupus erythematosus related to C1QA"], "xref": ["GARD:0028176"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1S gene.", "id": "MONDO:1060176", "name": "Systemic lupus erythematosus related to c1s", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["systemic lupus erythematosus related to C1S"], "xref": ["GARD:0028177"]}
{"category": ["biolink:Disease"], "description": "A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.", "id": "MONDO:1060177", "name": "Developmental and epileptic encephalopathy 119", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["DEE119", "RNU2-2 developmental and epileptic encephalopathy", "RNU2-2 syndrome", "developmental and epileptic encephalopathy 119"], "xref": ["GARD:0028178", "OMIM:621304"]}
{"category": ["biolink:Disease"], "description": "An autoimmune disorder that involves a constellation of psychiatric and neurologic symptoms that present simultaneously and in rapid onset, the cause or causes of which are unknown. Although the cause is still under investigation, the manifestations may follow a recent infection.", "id": "MONDO:1060178", "name": "Pediatric acute-onset neuropsychiatric syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PANS"], "xref": ["GARD:0028179", "MEDGEN:1673298", "UMLS:C5197301"]}
{"category": ["biolink:Disease"], "description": "A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity", "id": "MONDO:1060179", "name": "Rnu5b-1 related neurodevelopmental disorder with seizures and joint laxity", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NEDSJL", "RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity", "neurodevelopmental disorder with seizures and joint laxity"], "xref": ["OMIM:621302"]}
{"category": ["biolink:Disease"], "description": "A glioblastoma localized in the brain stem.", "id": "MONDO:1060180", "name": "Brain stem glioblastoma", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028180", "MEDGEN:231460", "NCIT:C5097", "UMLS:C1332610"]}
{"category": ["biolink:Disease"], "description": "Any propionic acidemia in which the cause of the disease is a variation in PCCA gene.", "id": "MONDO:1060182", "name": "Pcca-related propionic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PCCA-related propionic acidemia"], "xref": ["GARD:0028181"]}
{"category": ["biolink:Disease"], "description": "Any propionic acidemia in which the cause of the disease is a variation in PCCB gene.", "id": "MONDO:1060183", "name": "Pccb-related propionic acidemia", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["PCCB-related propionic acidemia"], "xref": ["GARD:0028182"]}
{"category": ["biolink:Disease"], "description": "Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma.", "id": "MONDO:1060184", "name": "Egln1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition"], "xref": ["GARD:0028183"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene.", "id": "MONDO:1060185", "name": "Systemic lupus erythematosus 18", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["SLEB18", "systemic lupus erythematosus related to PLD4"], "xref": ["GARD:0028184", "OMIM:621369"]}
{"category": ["biolink:Disease"], "description": "A variant of parapsoriasis characterized by round-to-oval plaques less than 5cm in diameter, and it rarely progresses.", "id": "MONDO:1060188", "name": "Small plaque parapsoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:75515", "NCIT:3921", "UMLS:C0263370"]}
{"category": ["biolink:Disease"], "description": "A variant of parapsoriasis characterized by erythematous-to-brown patches or thin plaques with fine scales larger than 5cm in diameter. It has a substantial risk to evolve to mycosis fungoides.", "id": "MONDO:1060189", "name": "Large plaque parapsoriasis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_integumentary_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:57907", "NCIT:C3670", "UMLS:C0162442"]}
{"category": ["biolink:Disease"], "description": "A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage.", "id": "MONDO:1060190", "name": "App-related brain and vascular amyloidosis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["APP-related brain and vascular amyloidosis"], "xref": ["GARD:0028185"]}
{"category": ["biolink:Disease"], "description": "Any ciliopathy caused by variants in the IFT74 gene.", "id": "MONDO:1060191", "name": "Ciliopathy-ift74", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["ciliopathy-IFT74"], "xref": ["GARD:0028186"]}
{"category": ["biolink:Disease"], "description": "A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures.", "id": "MONDO:1060192", "name": "Cask-related intellectual disability", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CASK-related disorder"]}
{"category": ["biolink:Disease"], "description": "An X-linked intelelctual disability in which the cause of the disease is hypomorphic CASK pathogenic variants. Affected individuals present with intellectual disability with or without congenital nystagmus. Additional features often include epilepsy, speech impairment, motor delay, and variable brain malformations. Phenotypic severity ranges from mild cognitive impairment to severe developmental disability.", "id": "MONDO:1060193", "name": "X-linked intellectual disability with or without nystagmus", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["XLID"], "xref": ["MEDGEN:476987", "UMLS:C3275356"]}
{"category": ["biolink:Disease"], "description": "An autoimmune lymphoproliferative syndrome that results from defective lymphocyte homoestasis, and is caused by variants in the FAS gene. It is characterized by non-malignant lymphoproliferation, autoimmune disease, and lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma.", "id": "MONDO:1060194", "name": "Fas-related autoimmune lymphoproliferative immune disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["FAS-related autoimmune lymphoproliferative immune disorder"], "xref": ["GARD:0028187"]}
{"category": ["biolink:Disease"], "description": "A heart disease that is present at birth that occurs with variable extracardiac laterality defects. Features of visceral heterotaxy are not always present but can include abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.", "id": "MONDO:1060197", "name": "Congenital heart disease with heterotaxy syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["congenital heart disease with heterotaxy syndrome"]}
{"category": ["biolink:Disease"], "description": "A stroke disorder caused by obstruction of blood flow to the brain, due to thrombotic (local blood clot formation) or embolic (due to a blood clot or other material traveling from another site) event.", "id": "MONDO:1060198", "name": "Ischemic stroke", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ischaemic stroke"], "xref": ["DOID:0051062", "MEDGEN:215292", "UMLS:C0948008"]}
{"category": ["biolink:Disease"], "description": "A stroke disorder caused by bleeding into the brain parenchyma or surrounding spaces. Hemorrhagic stroke includes intracerebral hemorrhage (bleeding within the brain tissue) and subarachnoid hemorrhage (bleeding in the space between the brain and the surrounding membrane).", "id": "MONDO:1060199", "name": "Hemorrhagic stroke", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["haemorrhagic stroke"], "xref": ["DOID:0051063", "MEDGEN:1714259", "UMLS:C5234922"]}
{"category": ["biolink:Disease"], "description": "A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology within the thyroid gland itself. Primary hyperthyroidism is characterized by low TSH levels and elevated T3/T4 levels.", "id": "MONDO:1060200", "name": "Primary hyperthyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:811409", "UMLS:C3714618"]}
{"category": ["biolink:Disease"], "description": "A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology outside of the thyroid gland, namely in the hypothalamus or pituitary gland. Secondary hyperthyroidism is characterized by elevated TSH levels and elevated T3/T4 levels.", "id": "MONDO:1060201", "name": "Secondary hyperthyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:923144", "UMLS:C1095928"]}
{"category": ["biolink:Disease"], "description": "A condition in which a single benign adenoma on the thyroid gland  autonomously secretes excessive thyroid hormone, leading to primary hyperthyroidism.", "id": "MONDO:1060202", "name": "Toxic thyroid adenoma", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["toxic adenoma"], "xref": ["MEDGEN:549890", "UMLS:C0302840"]}
{"category": ["biolink:Disease"], "description": "A form of secondary hyperthyroidism caused by pathology in the hypothalamus leading to excessive stimulation of the pituitary gland and subsequent overproduction of TSH, resulting in elevated thyroid hormone levels.", "id": "MONDO:1060203", "name": "Hypothalamic hyperthyroidism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A disorder of the female reproductive system characterized by abnormalities in the menstrual cycle, including disturbances in timing, flow, or associated pain.", "id": "MONDO:1060204", "name": "Menstrual disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A menstrual disorder characterized by pain during the menstrual cycle.", "id": "MONDO:1060205", "name": "Dysmenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:4429", "UMLS:C0013390"]}
{"category": ["biolink:Disease"], "description": "A form of dysmenorrhea characterized by recurrent menstrual pain without any identifiable underlying pelvic pathology, representing a diagnosis of exclusion. Symptoms typically emerge within two years of menarche.", "id": "MONDO:1060206", "name": "Primary dysmenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:508446", "UMLS:C0149875"]}
{"category": ["biolink:Disease"], "description": "A form of dysmenorrhea associated with suspected or clinically identifiable pelvic pathology, such as endometriosis, uterine fibroids, or adenomyosis.", "id": "MONDO:1060207", "name": "Secondary dysmenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:534931", "UMLS:C0232944"]}
{"category": ["biolink:Disease"], "description": "A form of amenorrhea defined by the absence of menstruation by the age of 15 years, or by 3 years after the onset of breast development (thelarche).", "id": "MONDO:1060208", "name": "Primary amenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:115918", "UMLS:C0232939"]}
{"category": ["biolink:Disease"], "description": "A form of amenorrhea characterized by the absence of menses for 3 or more months in a woman with previously regular menstrual cycles, or 6 or more months in any woman who has had at least one previous spontaneous menstruation.", "id": "MONDO:1060209", "name": "Secondary amenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["MEDGEN:115919", "UMLS:C0232940"]}
{"category": ["biolink:Disease"], "description": "A form of secondary amenorrhea caused by suppression of the hypothalamic-pituitary-ovarian axis without identifiable organic pathology, typically associated with energy deficiency, excessive exercise, psychological stress, or low body weight.", "id": "MONDO:1060210", "name": "Functional hypothalamic amenorrhea", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female.", "id": "MONDO:1060211", "name": "Nr5a1-related sex development disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NR5A1-related sex development disorder"]}
{"category": ["biolink:Disease"], "description": "A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.", "id": "MONDO:1060212", "name": "Cryab-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder"]}
{"category": ["biolink:Disease"], "description": "A retinal drusen characterized by subretinal deposits located internal to the retinal pigment epithelium, composed of material aggregations in the subretinal space between photoreceptors and the retinal pigment epithelium. These deposits have a bluish-white appearance by biomicroscopy and appear as hyperreflective lesions above the retinal pigment epithelium on optical coherence tomography.", "id": "MONDO:1060213", "name": "Reticular pseudodrusen", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RPD", "SDD", "subretinal drusenoid deposit"], "xref": ["SCTID:762533006"]}
{"category": ["biolink:Disease"], "description": "An infertility disorder caused by variation in the SYCE1 gene. Affected males may present with non-obstructive azoospermia due to maturation arrest or meiotic failure, while affected females may present with primary ovarian insufficiency.", "id": "MONDO:1060214", "name": "Syce1-related gametogenic failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["SYCE1-related gametogenic failure"]}
{"category": ["biolink:Disease"], "description": "A precancerous condition characterized by accumulation of some molecular alterations necessary for malignant transformation in a clonal proliferation of cells, representing an intermediate stage in carcinogenesis with increased risk of progression to invasive neoplasia.", "id": "MONDO:1060215", "name": "Preneoplastic lesion", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the TSEN2 gene. This condition is associated with intellectual disability, growth delay, hypotonia, motor delay, ataxia, vision issues, cardiac features (including left ventricular hypertrophy), and pulmonary complications (such as acute respiratory distress and edema). It is also linked to brain structural anomalies such as pontine and cerebellar hypoplasia, cortical atrophy, and dilated ventricles. Renal features include proteinuria, thrombotic microangiopathy, end-stage kidney disease, and high-severity hypertension.", "id": "MONDO:1060216", "name": "Tsen2-related neurodevelopmental disorder with or without thrombotic microangiopathy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy"]}
{"category": ["biolink:Disease"], "description": "A rare hypophysitis characterized histologically by mixed inflammatory cell infiltrates consisting of foamy histiocytes, plasma cells, and small round mature lymphocytes infiltrating the anterior pituitary gland. The tissue often contains cystic-like areas of liquefaction filled with lipid-laden macrophages along with lymphocytes and plasma cells.", "id": "MONDO:1060217", "name": "Xanthomatous hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "xref": ["SCTID:1186907003"]}
{"category": ["biolink:Disease"], "description": "A hypophysitis exhibiting histologic features of both xanthomatous and granulomatous hypophysitis, characterized by cholesterol clefts, haemosiderin deposits, multinucleated giant cells, macrophage accumulation and fibrous proliferation.", "id": "MONDO:1060218", "name": "Xanthogranulomatous hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A rare hypophysitis defined histologically by extensive necrosis of pituitary tissue surrounded by lymphocytes, plasma cells, and eosinophils.", "id": "MONDO:1060219", "name": "Necrotizing hypophysitis", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with an intervening bony or cartilaginous septum.", "id": "MONDO:1060220", "name": "Split cord malformation type i", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCM type 1", "SCM type I", "split cord malformation type 1"], "xref": ["Orphanet:1671"]}
{"category": ["biolink:Disease"], "description": "A rare subtype of split cord malformation characterized by both hemicords included in the same single dural sac. An intradural intervening mesenchymal septum may be present.", "id": "MONDO:1060221", "name": "Split cord malformation type ii", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["SCM type 2", "SCM type II", "diplomyelia", "split cord malformation type 2"], "xref": ["Orphanet:573253"]}
{"category": ["biolink:Disease"], "description": "A rare intermediate form of split cord malformation characterized by both hemichords encapsulated in a single dural sac with presence of an incomplete ventral or dorsal bony spur.", "id": "MONDO:1060222", "name": "Split cord malformation, composite type", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["split cord malformation type 1.5", "split cord malformation, intermediate type", "split cord malformation, mixed type"], "xref": ["Orphanet:633076"]}
{"category": ["biolink:Disease"], "description": "Any hereditary disease caused by a variation in the RNU12 gene, resulting in abnormal splicing of pre-mRNA via the minor spliceosome. The phenotypic spectrum includes craniosynostosis-anal anomalies-porokeratosis (CDAGS) syndrome and autosomal recessive spinocerebellar ataxia 33.", "id": "MONDO:1060223", "name": "Rnu12-related minor spliceopathy disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["RNU12-related minor spliceopathy disorder"]}
{"category": ["biolink:Disease"], "description": "A condition characterized by haploinsufficient levels of STAT5 protein due to reduced copy number or expression of the STAT5A and/or STAT5B genes, with consequent attenuation of STAT5-mediated cytokine signalling (including IL-7 and growth hormone pathways). This condition is also associated with altered lymphocyte homeostasis and modified susceptibility to lymphoma development.", "id": "MONDO:1060224", "name": "Stat5 haploinsufficiency", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["STAT5 deficiency (haploinsufficient)", "STAT5A/5B haploinsufficiency"]}
{"category": ["biolink:Disease"], "description": "A skeletal muscle disorder caused by heterozygous multi-exon in-frame structural variants of TTN (TTNsv) that escape nonsense-mediated decay and result in expression of an internally deleted titin isoform with dominant-negative effects on sarcomere structure and function. Affected individuals typically present with congenital, childhood-onset, or adult-onset proximal and/or distal muscle weakness, often accompanied by joint contractures, and may develop respiratory involvement or cardiomyopathy.", "id": "MONDO:1060225", "name": "Ttn-related myopathy, dominant-negative ttnsv", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["TTN-related myopathy, dominant-negative TTNsv"]}
{"category": ["biolink:Disease"], "description": "A disorder of sexual differentiation caused by biallelic variation in the MCM9 gene. Affected females (46,XX) may present with primary ovarian insufficiency or ovarian dysgenesis with short stature; affected males (46,XY) may present with non-obstructive azoospermia due to meiotic failure. Biallelic MCM9 variants have also been associated with predisposition to early-onset colorectal cancer, polyposis, gastric cancer, and germ cell tumors.", "id": "MONDO:1060226", "name": "Mcm9-related gametogenic failure", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["MCM9-related gametogenic failure"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QC gene.", "id": "MONDO:1060227", "name": "Systemic lupus erythematosus related to c1qc", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["systemic lupus erythematosus related to C1QC"]}
{"category": ["biolink:Disease"], "description": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QB gene.", "id": "MONDO:1060228", "name": "Systemic lupus erythematosus related to c1qb", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_connective_tissue_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["systemic lupus erythematosus related to C1QB"]}
{"category": ["biolink:Disease"], "description": "An occupational illness caused by transdermal absorption of nicotine from handling wet, uncured tobacco leaves, presenting with nausea, vomiting, dizziness, headache, weakness, and other autonomic symptoms. Predominantly affects tobacco farmworkers during harvesting, topping, and curing activities.", "id": "MONDO:1060229", "name": "Green tobacco sickness", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_poisoning", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GTS", "cropper sickness", "tobacco harvesters' sickness"], "xref": ["ICD10CM:T65.2"]}
{"category": ["biolink:Disease"], "description": "Any complex neurodevelopmental disorder in which the cause of the disease is a variationn in the BLOC1S1 gene. The disorder is characterized by intellectual disability, global developmental delay, leukodystrophy, optic atrophy, seizures, abnormal or delayed myelination, and spasticity; some individuals also present with mild features of hypopigmentation and ocular albinism.", "id": "MONDO:1060230", "name": "Bloc1s1-related complex neurodevelopmental disorder with leukodystrophy", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy"]}
{"category": ["biolink:Disease"], "description": "A predisposition to pituitary adenoma due to variation(s) in the AIP gene.", "id": "MONDO:1060231", "name": "Aip-related pituitary adenoma predisposition", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:susceptibility_match", "mondo:susceptibility_mondo"], "synonym": ["AIP-related pituitary adenoma predisposition", "PAP", "pituitary adenoma predisposition"]}
{"category": ["biolink:Disease"], "description": "A rare hereditary sensory and autonomic neuropathy characterized by the inability to perceive physical pain from birth. Affected individuals do not feel pain from injuries, burns, or infections and cannot detect harmful levels of heat, cold, or pressure, which can lead to repeated unrecognized injuries, impaired healing, and serious complications.", "id": "MONDO:1060232", "name": "Congenital insensitivity to pain", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["CIP"]}
{"category": ["biolink:Disease"], "description": "A group of neurodevelopmental disorders caused by germline mutations in genes encoding subunits of the Mediator complex, a multi-protein assembly required for RNA polymerase II-dependent transcription. Shared phenotypic features include intellectual disability, speech and language delay, behavioral abnormalities, and variable structural brain anomalies.", "id": "MONDO:1060233", "name": "Mediator complex-related neurodevelopmental disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A genetic disorder caused by a variation in the GJB2 gene, primarily associated with hearing loss and/or deafness.", "id": "MONDO:1060236", "name": "Gjb2-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["GJB2-related conditions"]}
{"category": ["biolink:Disease"], "description": "An eating disorder characterized by avoidance or restriction of food intake due to one or more of the following: lack of interest in eating or food, sensitivity to sensory characteristics of food (such as taste, texture, smell, or appearance), or concern about aversive consequences of eating (such as choking or vomiting), resulting in persistent failure to meet appropriate nutritional and/or energy needs as manifested by significant weight loss, nutritional deficiency, dependence on enteral feeding or nutritional supplements, or marked interference with psychosocial functioning, and where the eating disturbance is not better explained by lack of available food, cultural or religious practices, another mental disorder, or a concurrent medical condition.", "id": "MONDO:7770002", "name": "Avoidant/restrictive food intake disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_member", "mondo:harrisons_view_nutritional_disorder", "mondo:harrisons_view_psychiatric_disorder", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["ARFID", "selective eating disorder"], "xref": ["DOID:0051057", "ICD10CM:F50.82", "ICD9:307.59", "MESH:D000080146"]}
{"category": ["biolink:Disease"], "description": "A form of diabetes mellitus unique to individuals with cystic fibrosis (CF), arising primarily from progressive fibrotic destruction of the pancreas leading to insulin deficiency, with additional contributions from insulin resistance. CFRD affects approximately 20% of adolescents and 40-50% of adults with CF. It shares features with both type 1 and type 2 diabetes but is a distinct clinical entity with its own diagnostic criteria and management guidelines.", "id": "MONDO:7770003", "name": "Cystic fibrosis-related diabetes", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_metabolic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CF-related diabetes", "CFRD"], "xref": ["ICD10CM:E13"]}
{"category": ["biolink:Disease"], "description": "A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis.", "id": "MONDO:7770004", "name": "Cftr-related disorder", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CFTR-RD"], "xref": ["MEDGEN:1854862", "UMLS:C5924204"]}
{"category": ["biolink:Disease"], "description": "A liver disorder that arises as a consequence of cystic fibrosis. Cystic fibrosis-related liver disease encompasses a spectrum of hepatobiliary abnormalities caused by CFTR dysfunction in cholangiocytes, including focal biliary cirrhosis, multilobular biliary cirrhosis, hepatic steatosis, and cholangiopathy. It is a significant cause of non-pulmonary morbidity and mortality in CF, affecting approximately 5-10% of CF patients.", "id": "MONDO:7770005", "name": "Cystic fibrosis-related liver disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["CF liver disease", "CF-related liver disease", "CFLD"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases classified by the body system or anatomical component primarily affected.", "id": "MONDO:7770006", "name": "Disease by body system or component", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases classified by the molecular, biochemical, cellular, anatomic, developmental or physiological process that is disrupted.", "id": "MONDO:7770007", "name": "Disease by developmental or physiological process", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases classified by their etiologic mechanism, encompassing primarily intrinsic (genetic, genomic), primarily extrinsic (e.g., infections, toxins, radiation), and complex multifactorial (e.g. nutritional) causes.", "id": "MONDO:7770008", "name": "Disease by etiologic mechanism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases caused by genetic or genomic alterations, including chromosomal abnormalities and heritable mutations.", "id": "MONDO:7770009", "name": "Disease of genetic or genomic mechanism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases caused primarily by extrinsic factors, including infections, toxins, nutritional deficiencies, iatrogenic causes, and environmental exposures.", "id": "MONDO:7770010", "name": "Disease of primarily extrinsic mechanism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption.", "id": "MONDO:7770011", "name": "Disease by molecular mechanism", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_other", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"]}
{"category": ["biolink:Disease"], "description": "An autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum.", "id": "MONDO:7770747", "name": "Hepatic fibrinogen storage disease", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["HFSD", "HHHS", "hepatocellular fibrinogen storage disease", "hereditary hypofibrinogenemia with hepatic storage"]}
{"category": ["biolink:Disease"], "description": "An infection of the intervertebral disk space.", "id": "MONDO:8000000", "name": "Infectious discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:otar", "mondo:rare"], "xref": ["EFO:1000900", "GARD:0028188"]}
{"category": ["biolink:Disease"], "description": "Discitis caused by infection with Staphylococcus.", "id": "MONDO:8000001", "name": "Staphylococcus discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028189"]}
{"category": ["biolink:Disease"], "description": "Discitis caused by infection with Escherichia coli.", "id": "MONDO:8000002", "name": "Escherichia coli discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028190"]}
{"category": ["biolink:Disease"], "description": "Discitis caused by infection with Streptococcus pneumoniae.", "id": "MONDO:8000003", "name": "Streptococcus pneumoniae discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028191"]}
{"category": ["biolink:Disease"], "description": "Discitis caused by infection with Salmonella.", "id": "MONDO:8000004", "name": "Salmonella discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027037"]}
{"category": ["biolink:Disease"], "description": "Discitis caused by infection with fungi.", "id": "MONDO:8000005", "name": "Fungal discitis", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_infectious_disease", "mondo:harrisons_view_inflammatory_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0028192", "MEDGEN:1788782", "UMLS:C5547329"]}
{"category": ["biolink:Disease"], "description": "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).", "id": "MONDO:8000006", "name": "Whim syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_hematologic_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0060591", "GARD:0009297", "MEDGEN:1778124", "MESH:C536697", "NORD:1849", "OMIM:193670", "Orphanet:51636", "SCTID:234571003", "UMLS:C5542296"]}
{"category": ["biolink:Disease"], "description": "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.", "id": "MONDO:8000008", "name": "Martsolf syndrome 1", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_disorder_of_visual_system", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_reproductive_system_disorder", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["cataract-intellectual disability-hypogonadism syndrome", "cataract-mental retardation-hypogonadism"], "xref": ["DOID:0111586", "GARD:0003406", "MEDGEN:1778114", "MESH:C536028", "OMIM:212720", "Orphanet:1387", "SCTID:722380003", "UMLS:C5542298"]}
{"category": ["biolink:Disease"], "description": "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.", "id": "MONDO:8000010", "name": "Antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:gard_rare", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_subtype", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:otar", "mondo:rare"], "synonym": ["Hughes syndrome", "antiphospholipid antibody syndrome", "antiphospholipid syndrome", "familial lupus anticoagulant"], "xref": ["DOID:2988", "EFO:0002689", "GARD:0005824", "ICD10CM:D68.61", "ICD9:279.49", "MEDGEN:38834", "MESH:D016736", "NCIT:C61283", "Orphanet:80", "SCTID:26843008", "UMLS:C0085278", "icd11.foundation:1173370808"]}
{"category": ["biolink:Disease"], "description": "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.", "id": "MONDO:8000011", "name": "Visceral neuropathy, familial, 1, autosomal recessive", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_digestive_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_subtype_of_a_disorder", "mondo:rare"], "xref": ["DOID:0080679", "GARD:0003928", "MEDGEN:340946", "MESH:C537394", "OMIM:243180", "Orphanet:99811", "UMLS:C1855733"]}
{"category": ["biolink:Disease"], "id": "MONDO:8000012", "name": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["IMNEPD", "infantile-onset multisystem neurologic, endocrine, and pancreatic disease"], "xref": ["GARD:0017791", "MEDGEN:864165", "OMIM:616263", "Orphanet:456312", "UMLS:C4015728"]}
{"category": ["biolink:Disease"], "id": "MONDO:8000013", "name": "Portal hypertension, noncirrhotic, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other"], "synonym": ["NCPH", "portal hypertension, noncirrhotic"], "xref": ["OMIM:617068"]}
{"category": ["biolink:Disease"], "description": "Autosomal dominant form of antiphospholipid syndrome.", "id": "MONDO:8000014", "name": "Familial antiphospholipid syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["antiphospholipid syndrome, familial"], "xref": ["GARD:0027038", "MEDGEN:419641", "MESH:C531622", "OMIM:107320", "UMLS:C2930802"]}
{"category": ["biolink:Disease"], "description": "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.", "id": "MONDO:8000015", "name": "46,xy sex reversal 11", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cardiovascular_disorder", "mondo:harrisons_view_disorder_of_development_or_morphogenesis", "mondo:harrisons_view_endocrine_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_musculoskeletal_system_disorder", "mondo:harrisons_view_reproductive_system_disorder", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:ordo_morphological_anomaly", "mondo:orphanet_rare", "mondo:rare"], "synonym": ["46, XY sex reversal 11", "ETRS", "SRXY11", "TRS", "embryonic testicular regression syndrome", "testicular regression syndrome", "vanishing testes syndrome", "vanishing testis syndrome"], "xref": ["GARD:0016552", "ICD9:752.89", "MEDGEN:78602", "MESH:C537770", "MedDRA:10002641", "OMIM:273250", "Orphanet:983", "SCTID:53599007", "UMLS:C0266427"]}
{"category": ["biolink:Disease"], "description": "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.", "id": "MONDO:8000018", "name": "Benign paroxysmal positional vertigo", "provided_by": ["infores:medic"], "subsets": ["mondo:doid_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:inferred_rare", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BPPV", "BRV", "benign paroxysmal positional vertigo", "familial benign recurrent vertigo", "familial vestibulopathy", "vertigo, benign paroxysmal positional", "vertigo, benign recurrent", "vestibulopathy, familial"], "xref": ["DOID:13941", "ICD9:386.11", "MEDGEN:57837", "MESH:D065635", "OMIM:193007", "SCTID:111541001", "UMLS:C0155502"]}
{"category": ["biolink:Disease"], "id": "MONDO:8000019", "name": "Vertigo, benign recurrent, 1", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_auditory_system_disorder", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_member", "mondo:harrisons_view_nervous_system_disorder", "mondo:harrisons_view_otorhinolaryngologic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "synonym": ["BRV1", "vertigo, benign recurrent, 1"], "xref": ["GARD:0027039", "MEDGEN:412807", "MESH:C567620", "UMLS:C2749845"]}
{"category": ["biolink:Disease"], "description": "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.", "id": "MONDO:8000023", "name": "Type 3 autoimmune lymphoproliferative syndrome", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:rare"], "xref": ["GARD:0027040", "MEDGEN:274327", "NCIT:C39577", "UMLS:C1519711"]}
{"category": ["biolink:Disease"], "description": "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.", "id": "MONDO:8000024", "name": "Autoimmune lymphoproliferative syndrome, type iii caused by mutation in prkcd", "provided_by": ["infores:medic"], "subsets": ["mondo:gard_rare", "mondo:harrisons_view_cancer_or_benign_tumor", "mondo:harrisons_view_hereditary_disease", "mondo:harrisons_view_immune_system_disorder", "mondo:harrisons_view_member", "mondo:harrisons_view_syndromic_disease", "mondo:mondo_top_grouping_disease_by_body_system_or_component", "mondo:mondo_top_grouping_disease_by_etiologic_mechanism", "mondo:mondo_top_grouping_member", "mondo:mondo_txgnn_other", "mondo:nord_rare", "mondo:ordo_disorder", "mondo:orphanet_rare", "mondo:rare"], "xref": ["DOID:0110119", "GARD:0015987", "MEDGEN:816258", "OMIM:615559", "Orphanet:664711", "UMLS:C3809928"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1000104", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20100730", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:441933a9-d8eb-504b-9bb1-d33d31bf28dd", "medic_reliability": "HIGH", "name": "incobotulinumtoxinA", "provided_by": ["infores:medic"], "synonym": ["incobotulinumtoxinA"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:10454", "medic_application_numbers": ["040079|080509|080553|080556|080571|080575|080667|080712|080718|080770|080853|083534|083775|087968|091623|206106|208703|215692|217181|217800|218471"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b0be5d51-1cdc-525d-b922-d3387db524fa", "medic_reliability": "HIGH", "name": "thiamine", "provided_by": ["infores:medic"], "synonym": ["THIAMINE HYDROCHLORIDE"], "xref": ["UNII:4ABT0J945J"]}
{"category": ["biolink:Drug"], "id": "RXCUI:104592", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20230203", "medic_mention_id": "MEDICNE:eb81e9e2-f7dc-5d03-82f7-15618d1a2416", "medic_reliability": "MEDIUM", "name": "cyproheptadine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Cyproheptadine Hydrochloride Tablets", "盐酸赛庚啶片"]}
{"category": ["biolink:Drug"], "id": "RXCUI:10473", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20100315", "medic_mention_id": "MEDICNE:7aeea5b1-2df9-5eb1-b48d-ce16ffe1b634", "medic_reliability": "HIGH", "name": "thiotepa", "provided_by": ["infores:medic"], "synonym": ["thiotepa"], "xref": ["GTOPDB:7622", "PHAROS:UR3FXJZP9BKM", "PUBCHEM.COMPOUND:5453"]}
{"category": ["biolink:Drug"], "id": "RXCUI:10528", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20071219", "medic_mention_id": "MEDICNE:fdc664e0-0cc5-5781-8972-78a8df9018e3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(011121)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "thrombin", "provided_by": ["infores:medic"], "synonym": ["Fibrinogen + thrombin", "Фибриноген+тромбин"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:107129", "medic_application_numbers": ["018233|018632|018801|018802|019077|019633|019869|077393|088400|089099|089100|206369|209689|211188|211222|212735|217341|217536"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:19716897-6c73-51fa-9ddc-9a92e754402a", "medic_reliability": "MEDIUM", "name": "sterile water", "provided_by": ["infores:medic"], "synonym": ["STERILE WATER FOR INJECTION"]}
{"category": ["biolink:Drug"], "id": "RXCUI:10798", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20170905", "medic_mention_id": "MEDICNE:4d5ec312-72a5-5a60-ba06-991acd314702", "medic_reliability": "HIGH", "name": "trientine", "provided_by": ["infores:medic"], "synonym": ["trientine"]}
{"category": ["biolink:Drug"], "id": "RXCUI:11416", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080328", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:3ead9fae-f582-5dc6-999f-3134fee8f5b1", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-008815"], "medic_reliability": "MEDIUM", "name": "zinc", "provided_by": ["infores:medic"], "synonym": ["Favilavir+Zinc", "Zinc Ointment", "Фавипиравир+Цинк"], "xref": ["UNII:J41CSQ7QDS"]}
{"category": ["biolink:Drug"], "id": "RXCUI:115265", "medic_approved_authorities": ["EMA", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["europe", "russia"], "medic_earliest_approval_date": "19960625", "medic_mention_id": "MEDICNE:d4a2ec54-1588-5703-afd7-9506e91f75d0", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-004525"], "medic_reliability": "HIGH", "name": "ibandronic acid", "provided_by": ["infores:medic"], "synonym": ["Ibandronic acid", "ibandronic acid"], "xref": ["CHEMBL.COMPOUND:CHEMBL997", "DrugCentral:1404", "GTOPDB:3059", "PHAROS:R4XFHQG7PJRN", "PUBCHEM.COMPOUND:146015366,60852", "UNII:UMD7G2653W"]}
{"category": ["biolink:Drug"], "id": "RXCUI:117466", "medic_approved_authorities": ["CDSCO", "MOH_RUSSIA"], "medic_approved_jurisdictions": ["india", "russia"], "medic_earliest_approval_date": "20080101", "medic_mention_id": "MEDICNE:fe1b1ab9-4a1a-54e6-ab58-a42b1cd88385", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-000779"], "medic_reliability": "HIGH", "name": "tenofovir", "provided_by": ["infores:medic"], "synonym": ["Doravirine + Lamivudine + Tenofovir", "Lamivudine + Tenofovir + Efavirenz", "Tenofovir", "Tenofovir + Emtricitabine", "Tenofovir + Emtricitabine + Efavirenz", "Tenofovir + Emtricitabine + Efavirenz [combination]", "Tenofovir Fumarate 300mg + Lamivudine 300mg + Efavirenz 600mg Tablets", "Тенофовир"], "xref": ["UNII:W4HFE001U5"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1191", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20110101", "medic_mention_id": "MEDICNE:fbc800ee-edd1-50f4-90a9-8a1602fab856", "medic_reliability": "HIGH", "name": "aspirin", "provided_by": ["infores:medic"], "synonym": ["Aspirin (EC Tablets) 75mg/75mg/150mg +Rosuvastatin (Granules) 5mg/10mg/10mg Capsules"], "xref": ["CHEMBL.COMPOUND:CHEMBL25", "DrugCentral:74", "GTOPDB:4139", "PHAROS:NNQ793F142LD", "PUBCHEM.COMPOUND:2244", "UNII:R16CO5Y76E"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1251", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20081217", "medic_mention_id": "MEDICNE:721fc1ff-69be-5191-9a2b-44c7b5e985e0", "medic_reliability": "HIGH", "name": "azacitidine", "provided_by": ["infores:medic"], "synonym": ["azacitidine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1489", "DrugCentral:25", "PHAROS:APQ4TYS6L28M", "PUBCHEM.COMPOUND:9444", "UNII:M801H13NRU"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1294532", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19931202", "medic_mention_id": "MEDICNE:125baacb-f2e9-5e8d-b0d5-2b27822a1e09", "medic_reliability": "MEDIUM", "name": "levocabastine hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Levocabastine Hydrochloride Nasal Spray", "盐酸左卡巴斯汀鼻喷雾剂"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1297880", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20081009", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:adb39d4c-a353-5071-beb5-9fa5fa99c626", "medic_registration_numbers": ["MOH_RUSSIA:ЛС-000250"], "medic_reliability": "MEDIUM", "name": "camphor oil", "provided_by": ["infores:medic"], "synonym": ["Camphor Oil", "Камфорное масло"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1299782", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "19981117", "medic_mention_id": "MEDICNE:744b85f2-94f8-5c19-a509-51f183f84da7", "medic_reliability": "MEDIUM", "name": "cephalexin anhydrous", "provided_by": ["infores:medic"], "synonym": ["Cephalexin Anhydrous 375mg/750mg ER Film Coated Tablet"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1300488", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "19970827", "medic_mention_id": "MEDICNE:e9deffe3-daba-51e9-b201-b0f54202946c", "medic_reliability": "HIGH", "name": "nonacog alfa", "provided_by": ["infores:medic"], "synonym": ["nonacog alfa"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1304974", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20210326", "medic_mention_id": "MEDICNE:e53be527-4b48-5f18-9cd5-0d981a26840b", "medic_reliability": "HIGH", "name": "icosapent ethyl", "provided_by": ["infores:medic"], "synonym": ["icosapent ethyl"], "xref": ["CHEMBL.COMPOUND:CHEMBL2095209", "DrugCentral:1413", "PHAROS:9DHMW384W173", "PUBCHEM.COMPOUND:9831415", "UNII:6GC8A4PAYH"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1305520", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:f9e25642-e502-58e7-b4b7-5b5cb36f891f", "medic_reliability": "MEDIUM", "name": "lactitol monohydrate", "provided_by": ["infores:medic"], "synonym": ["Lactitol monohydrate Syrup 66.67/100ml"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1306065", "medic_stub": true, "name": "chromium Cr-51", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1306161", "medic_stub": true, "name": "Camellia japonica seed oil", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1309396", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20180611", "medic_mention_id": "MEDICNE:36d82d98-ca61-5f86-9429-7737f9c6366b", "medic_reliability": "MEDIUM", "name": "vardenafil hydrochloride trihydrate", "provided_by": ["infores:medic"], "synonym": ["Vardenafil Hydrochloride Trihydrate Bulk and 2.5mg/5mg/10 mg/20 mg tablets"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1310469", "medic_application_numbers": ["207987|214988|217845|219400|219444|219569"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20180621", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:295496f5-24cd-5cfe-a5c0-a85b5a4ea4cd", "medic_reliability": "HIGH", "name": "dehydrated alcohol", "provided_by": ["infores:medic"], "synonym": ["DEHYDRATED ALCOHOL"], "xref": ["UNII:3K9958V90M"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1311067", "medic_stub": true, "name": "barium", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1314283", "medic_stub": true, "name": "stannous cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:132889", "medic_application_numbers": ["012125|084697|084850|085010|088388|089517"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:15eb8aa5-0caf-56d6-b118-39346f2ae7e2", "medic_reliability": "HIGH", "name": "levonordefrin", "provided_by": ["infores:medic"], "synonym": ["LEVONORDEFRIN; MEPIVACAINE HYDROCHLORIDE", "LEVONORDEFRIN; PROCAINE HYDROCHLORIDE; PROPOXYCAINE HYDROCHLORIDE"], "xref": ["UNII:V008L6478D"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1329960", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20240905", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:ca6b4d79-dfc3-5fe3-8169-2769bf2f0953", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-№(006794)-(РГ-RU)"], "medic_reliability": "MEDIUM", "name": "human placenta hydrolysate", "provided_by": ["infores:medic"], "synonym": ["Human Placenta Hydrolysate", "Гидролизат плаценты человека"]}
{"category": ["biolink:Drug"], "id": "RXCUI:135391", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20020516", "medic_mention_id": "MEDICNE:3ac82a46-535c-5bcd-99fb-2f5e86102e98", "medic_reliability": "HIGH", "name": "olopatadine", "provided_by": ["infores:medic"], "synonym": ["olopatadine"], "xref": ["CHEMBL.COMPOUND:CHEMBL1189432", "DrugCentral:1986", "PHAROS:9FTSSX8XH9P4", "PUBCHEM.COMPOUND:25271818", "UNII:D27V6190PM"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1360631", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "19991230", "medic_mention_id": "MEDICNE:6f40ebfd-0a13-55a1-9b08-7d21e85f033c", "medic_reliability": "MEDIUM", "name": "mustard oil", "provided_by": ["infores:medic"], "synonym": ["Mustard Oil Tablets", "苯丁酸氮芥片"], "xref": ["CHEMBL.COMPOUND:CHEMBL233248", "GTOPDB:2420", "PHAROS:2FBFWFN6LTMH", "PUBCHEM.COMPOUND:5971"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1361657", "medic_stub": true, "name": "iodide ion I-123", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1370424", "medic_stub": true, "name": "tetradecyl hydrogen sulfate (ester)", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1376149", "medic_stub": true, "name": "alpha-tocopherylquinone", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1422928", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080226", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:e31de5f3-c410-5401-aee0-2fc318b97c48", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-001319"], "medic_reliability": "MEDIUM", "name": "Aloe arborescens leaf extract", "provided_by": ["infores:medic"], "synonym": ["Aloe arborescens Leaf Extract + Ascorbic Acid", "Aloe arborescens leaf extract", "Алоэ древовидного листьев экстракт"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1424883", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20140704", "medic_mention_id": "MEDICNE:9d4bc05e-a8a6-5a04-a6b0-4ed38f2de967", "medic_reliability": "HIGH", "name": "vilanterol trifenatate", "provided_by": ["infores:medic"], "synonym": ["VILANTEROL TRIFENATATE"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1426865", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "20080506", "medic_mention_id": "MEDICNE:877f6c14-3f1b-56f4-b597-1138ec557dc3", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-005922"], "medic_reliability": "MEDIUM", "name": "lysozyme", "provided_by": ["infores:medic"], "synonym": ["Lidocaine + Lysozyme + Cetylpyridinium Chloride", "Lysozyme", "Lysozyme + Pyridoxine", "Лизоцим+Пиридоксин"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1426932", "medic_stub": true, "name": "distearoylphosphatidylcholine, DL-", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1427171", "medic_stub": true, "name": "hepatitis B virus subtype ADW2 HBsAg surface protein antigen", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1427198", "medic_stub": true, "name": "cupric cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1431738", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20111118", "medic_mention_id": "MEDICNE:74a4d371-3a88-5825-851f-d6519bfe99dc", "medic_reliability": "HIGH", "name": "asparaginase Erwinia chrysanthemi", "provided_by": ["infores:medic"], "synonym": ["asparaginase Erwinia chrysanthemi"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1433764", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20120829", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:391e5548-f609-5e3b-8ba8-7f1f32efd6c3", "medic_reliability": "HIGH", "name": "tbo-filgrastim", "provided_by": ["infores:medic"], "synonym": ["tbo-filgrastim"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1482634", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_mention_id": "MEDICNE:3cdd6e52-62f8-5b8c-8561-27eec0c2f191", "medic_reliability": "EXCLUDED", "name": "ornithine alpha-ketoglutarate", "provided_by": ["infores:medic"], "synonym": ["Ornithine alpha-ketoglutarate"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1485046", "medic_stub": true, "name": "arsenic cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:153329", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20030523", "medic_mention_id": "MEDICNE:e42ff297-1c96-5abb-b3ce-392de263a23a", "medic_reliability": "MEDIUM", "name": "irinotecan hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Irinotecan Hydrochloride Injection", "盐酸伊立替康注射液"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546223", "medic_stub": true, "name": "diatrizoic acid", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546272", "medic_stub": true, "name": "manganese cation (2+)", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546281", "medic_stub": true, "name": "indium cation In-111", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546357", "medic_stub": true, "name": "ferric cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546370", "medic_stub": true, "name": "thallous cation Tl-201", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546371", "medic_stub": true, "name": "gallium cation Ga-67", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546386", "medic_stub": true, "name": "bromotheophylline", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546399", "medic_stub": true, "name": "vecuronium cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546415", "medic_stub": true, "name": "iodide ion I-131", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546416", "medic_stub": true, "name": "chlortheophylline", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546421", "medic_stub": true, "name": "edrophonium cation", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546429", "medic_stub": true, "name": "gadolinium cation (3+)", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546443", "medic_stub": true, "name": "lanthanum cation (3+)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:1546446", "medic_mention_id": "MEDICNE:1636324a-74cd-52f7-a4dc-5933fcb60be1", "medic_reliability": "EXCLUDED", "name": "omacetaxine", "provided_by": ["infores:medic"], "synonym": ["Omacetaxine"], "xref": ["DRUGBANK:DB04865"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1546452", "medic_stub": true, "name": "iothalamic acid I-125", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1547557", "medic_stub": true, "name": "threonic acid, DL-", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1549112", "medic_stub": true, "name": "threonic acid, L-", "provided_by": ["infores:medic"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1592256", "medic_stub": true, "name": "levomefolate glucosamine", "provided_by": ["infores:medic"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1597876", "medic_approved_authorities": ["EMA", "FDA"], "medic_approved_jurisdictions": ["europe", "usa"], "medic_earliest_approval_date": "20141222", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:6c54afd6-a6d5-50c8-9606-72fc324a87b5", "medic_reliability": "HIGH", "name": "nivolumab", "provided_by": ["infores:medic"], "synonym": ["nivolumab", "nivolumab and relatlimab-rmbw"], "xref": ["CHEMBL.COMPOUND:CHEMBL2108738", "DrugCentral:4923", "PHAROS:nivolumab"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1599831", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20140716", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:b2c026a0-d2e6-5004-ad4e-6027177738f7", "medic_reliability": "HIGH", "name": "C1 esterase inhibitor (recombinant)", "provided_by": ["infores:medic"], "synonym": ["C1 Esterase Inhibitor (Recombinant)"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1605064", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20150306", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:dd95d6d0-463f-5eba-b238-e92170b0141e", "medic_reliability": "HIGH", "name": "filgrastim-sndz", "provided_by": ["infores:medic"], "synonym": ["filgrastim-sndz"]}
{"category": ["biolink:Drug"], "id": "RXCUI:164", "medic_mention_id": "MEDICNE:02f0b4d0-4b3c-5559-b8af-de11bdc73084", "medic_reliability": "EXCLUDED", "name": "acetate", "provided_by": ["infores:medic"], "synonym": ["Acetate"], "xref": ["DRUGBANK:DB14511"]}
{"category": ["biolink:NamedThing"], "id": "RXCUI:1648123", "medic_stub": true, "name": "menthol, (+)-", "provided_by": ["infores:medic"]}
{"category": ["biolink:Drug"], "id": "RXCUI:177906", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:caa07b7e-d41d-59d8-8a1d-5247d58765e0", "medic_reliability": "EXCLUDED", "name": "samarium Sm 153 lexidronam", "provided_by": ["infores:medic"], "synonym": ["Samarium sm-153 lexidronam"], "xref": ["DRUGBANK:DB05273"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:1790539", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20160405", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:516b9336-1c11-5ca6-bb36-e0ae9636d668", "medic_reliability": "HIGH", "name": "infliximab-dyyb", "provided_by": ["infores:medic"], "synonym": ["infliximab-dyyb"]}
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{"category": ["biolink:NamedThing"], "id": "RXCUI:1872905", "medic_stub": true, "name": "deacetylbisacodyl", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2689282", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240229", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:4b2692a4-2ad2-5063-be6d-08bf3b2938c4", "medic_reliability": "HIGH", "name": "letibotulinumtoxinA-wlbg", "provided_by": ["infores:medic"], "synonym": ["letibotulinumtoxinA-wlbg"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2695870", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241018", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e0282b4d-4e5f-5a8a-b217-75e55913b6e7", "medic_reliability": "HIGH", "name": "zolbetuximab-clzb", "provided_by": ["infores:medic"], "synonym": ["zolbetuximab-clzb"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2696256", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240823", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e73dbe67-454b-52d2-8e71-5281e22162e0", "medic_reliability": "HIGH", "name": "aflibercept-ayyh", "provided_by": ["infores:medic"], "synonym": ["aflibercept-ayyh"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2698200", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241120", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:13a25f9d-40e8-5af7-882f-c19a3dba0b1b", "medic_reliability": "HIGH", "name": "zanidatamab-hrii", "provided_by": ["infores:medic"], "synonym": ["zanidatamab-hrii"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2700340", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241219", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:65eb01d1-34d0-5cef-94cd-7c79231a8c3a", "medic_reliability": "HIGH", "name": "acellular tissue engineered vessel-tyod", "provided_by": ["infores:medic"], "synonym": ["acellular tissue engineered vessel-tyod"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2700660", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20231206", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:f135f3c5-5721-5b6c-bb36-2f24b2f28316", "medic_reliability": "HIGH", "name": "bevacizumab-tnjn", "provided_by": ["infores:medic"], "synonym": ["bevacizumab-tnjn"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2700746", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240807", "medic_features": ["COMBINATION_THERAPY"], "medic_is_combination_therapy": true, "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:e108eda1-5fdd-5c90-999e-8b70b32ccee5", "medic_reliability": "HIGH", "name": "denileukin diftitox-cxdl", "provided_by": ["infores:medic"], "synonym": ["denileukin diftitox-cxdl"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2705377", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240416", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:52199ecb-1be4-533f-be08-a509e34a16cc", "medic_reliability": "HIGH", "name": "ustekinumab-aekn", "provided_by": ["infores:medic"], "synonym": ["ustekinumab-aekn"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2706347", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240528", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:7175eba3-1926-5cf1-8f28-225e9e97e337", "medic_reliability": "HIGH", "name": "eculizumab-aeeb", "provided_by": ["infores:medic"], "synonym": ["eculizumab-aeeb"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2708340", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241220", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:1cd54408-a418-5f7d-8710-5cb50d4e8658", "medic_reliability": "HIGH", "name": "concizumab-mtci", "provided_by": ["infores:medic"], "synonym": ["concizumab-mtci"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2715382", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20240305", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:45c9d4dd-50a6-598a-b756-1034fdc818dd", "medic_reliability": "HIGH", "name": "denosumab-bbdz", "provided_by": ["infores:medic"], "synonym": ["denosumab-bbdz"]}
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{"category": ["biolink:Drug"], "id": "RXCUI:2717169", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20250210", "medic_mention_id": "MEDICNE:c7b118d8-a5c4-5c17-9a9f-7ad2d86178cd", "medic_reliability": "HIGH", "name": "garadacimab", "provided_by": ["infores:medic"], "synonym": ["Garadacimab", "garadacimab"], "xref": ["DRUGBANK:DB15629"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:2717512", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20241213", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:0ad5d2fb-4f5e-57db-9302-fcacdfd3448c", "medic_reliability": "HIGH", "name": "cosibelimab-ipdl", "provided_by": ["infores:medic"], "synonym": ["cosibelimab-ipdl"]}
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{"category": ["biolink:Drug"], "id": "RXCUI:274964", "medic_approved_authorities": ["CDSCO"], "medic_approved_jurisdictions": ["india"], "medic_earliest_approval_date": "20070101", "medic_mention_id": "MEDICNE:134ab9e6-658e-5e0e-acca-e5767a81c9ae", "medic_reliability": "HIGH", "name": "ciclesonide", "provided_by": ["infores:medic"], "synonym": ["Ciclesonide 160mcg/320mcg + Formoterol Fumarate (12mcg) (Dry powder inhaler additional strength)"], "xref": ["CHEMBL.COMPOUND:CHEMBL2040682", "DrugCentral:633", "GTOPDB:7469", "PHAROS:U92GRBX86HV5", "PUBCHEM.COMPOUND:6918155", "UNII:S59502J185"]}
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{"category": ["biolink:Drug"], "id": "RXCUI:29495", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20120525", "medic_mention_id": "MEDICNE:1dc63723-98d4-5cf7-8e8a-86b50b9ac5cb", "medic_reliability": "HIGH", "name": "menatetrenone", "provided_by": ["infores:medic"], "synonym": ["MENATETRENONE"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:306266", "medic_application_numbers": ["021797|021798|202122|205740|205824|206217|206226|206294|206652|206672|206745|206872|208195|208721|208782|211978|212106|212126|212201|216857"], "medic_approved_authorities": ["EMA", "FDA", "MOH_RUSSIA", "NMPA_CHINA"], "medic_approved_jurisdictions": ["china", "europe", "russia", "usa"], "medic_earliest_approval_date": "20050329", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:d34410b8-9411-5984-a4c0-b3a50f738847", "medic_registration_numbers": ["MOH_RUSSIA:ЛП-003643"], "medic_reliability": "HIGH", "name": "entecavir", "provided_by": ["infores:medic"], "synonym": ["ENTECAVIR", "Entecavir", "Entecavir Capsules", "Entecavir Tablets", "Entecavir and Tenofovir Tablets", "entecavir"], "xref": ["DRUGBANK:DB00442", "UNII:NNU2O4609D"]}
{"category": ["biolink:Drug"], "id": "RXCUI:3143", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20180108", "medic_mention_id": "MEDICNE:ae6010ee-b9fe-55bf-bde6-3b2c8ba0df09", "medic_reliability": "HIGH", "name": "prasterone", "provided_by": ["infores:medic"], "synonym": ["prasterone"], "xref": ["CHEMBL.COMPOUND:CHEMBL90593", "DrugCentral:795", "PHAROS:FS54HD2ZRCVL", "PUBCHEM.COMPOUND:5881", "UNII:459AG36T1B"]}
{"category": ["biolink:Drug"], "id": "RXCUI:314517", "medic_approved_authorities": ["MOH_RUSSIA"], "medic_approved_jurisdictions": ["russia"], "medic_earliest_approval_date": "19700804", "medic_mention_id": "MEDICNE:00e0a61e-50b8-5c32-8ef4-49607f5e7231", "medic_registration_numbers": ["MOH_RUSSIA:70/529/45"], "medic_reliability": "MEDIUM", "name": "belladonna leaf extract", "provided_by": ["infores:medic"], "synonym": ["Belladonna Leaf Extract", "Belladonna Leaf Extract + Benzocaine", "Belladonna Leaf Extract + Benzocaine + Metamizole Sodium + Sodium Bicarbonate", "Belladonna Leaf Extract + Ichthammol", "Belladonna Leaf Extract + Phenylsalicylate", "Belladonna Leaf Extract + Sodium Bicarbonate", "Белладонны листьев экстракт+Бензокаин"]}
{"category": ["biolink:Drug"], "id": "RXCUI:31479", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "20130224", "medic_mention_id": "MEDICNE:fa53bcb7-6bc1-511b-a40f-84d58b99323f", "medic_reliability": "HIGH", "name": "nalmefene", "provided_by": ["infores:medic"], "synonym": ["nalmefene"], "xref": ["CHEMBL.COMPOUND:CHEMBL982", "DrugCentral:1876", "GTOPDB:1628", "PHAROS:MJV3Z58X5UJA", "PUBCHEM.COMPOUND:5284594", "UNII:TOV02TDP9I"]}
{"category": ["biolink:Drug"], "id": "RXCUI:340705", "medic_approved_authorities": ["PMDA"], "medic_approved_jurisdictions": ["japan"], "medic_earliest_approval_date": "20080901", "medic_mention_id": "MEDICNE:ba12d751-2a16-5f1b-86e9-0215c7453717", "medic_reliability": "LOW", "name": "human chorionic gonadotropin", "provided_by": ["infores:medic"], "synonym": ["HUMAN CHORIONIC GONADOTROPHIN", "[JP] HUMAN CHORIONIC GONADOTROPHIN (EXTRACT FROM HUMAN URINE)"]}
{"category": ["biolink:Drug"], "id": "RXCUI:34119", "medic_application_numbers": ["010753"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19820101", "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:447e3061-2b6b-59ec-97af-d2d347806cbc", "medic_reliability": "HIGH", "name": "polyestradiol", "provided_by": ["infores:medic"], "synonym": ["POLYESTRADIOL PHOSPHATE"]}
{"category": ["biolink:Drug"], "id": "RXCUI:35623", "medic_approved_authorities": ["EMA"], "medic_approved_jurisdictions": ["europe"], "medic_earliest_approval_date": "19960610", "medic_mention_id": "MEDICNE:a5ad3fd6-9e5f-56c9-a588-1dacdb0c8a66", "medic_reliability": "HIGH", "name": "riluzole", "provided_by": ["infores:medic"], "synonym": ["riluzole"], "xref": ["CHEMBL.COMPOUND:CHEMBL744", "DrugCentral:2382", "GTOPDB:2326", "PHAROS:CTLUL57W2GUZ", "PUBCHEM.COMPOUND:5070", "UNII:7LJ087RS6F"]}
{"category": ["biolink:Drug"], "id": "RXCUI:3565", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20220919", "medic_mention_id": "MEDICNE:b4652265-1d8e-5bf4-a088-37deca801100", "medic_reliability": "MEDIUM", "name": "succinylcholine chloride", "provided_by": ["infores:medic"], "synonym": ["Succinylcholine Chloride Injection", "氯化琥珀胆碱注射液"]}
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{"category": ["biolink:Drug"], "id": "RXCUI:37578", "medic_application_numbers": ["018509"], "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "19850807", "medic_features": ["NO_THERAPEUTIC_VALUE"], "medic_marketing_status_usa": "DISCN", "medic_mention_id": "MEDICNE:42ed82ec-e3e9-5106-ad83-114b7b6a5fe9", "medic_reliability": "HIGH", "name": "tartaric acid", "provided_by": ["infores:medic"], "synonym": ["SODIUM BICARBONATE; TARTARIC ACID"], "xref": ["UNII:W4888I119H"]}
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{"category": ["biolink:NamedThing"], "id": "RXCUI:426", "medic_stub": true, "name": "alanine", "provided_by": ["infores:medic"]}
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{"category": ["biolink:NamedThing"], "id": "RXCUI:6574", "medic_stub": true, "name": "magnesium", "provided_by": ["infores:medic"]}
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{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:809864", "medic_approved_authorities": ["FDA"], "medic_approved_jurisdictions": ["usa"], "medic_earliest_approval_date": "20081010", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:860a4bd0-f360-5163-b512-2d34c014f4f3", "medic_reliability": "HIGH", "name": "C1 esterase inhibitor (human)", "provided_by": ["infores:medic"], "synonym": ["C1 Esterase Inhibitor (Human)"]}
{"category": ["biolink:Drug"], "id": "RXCUI:81638", "medic_features": ["METALLIC_SALT"], "medic_mention_id": "MEDICNE:a85e9c81-6e94-52a5-86fb-7b4d57a88347", "medic_reliability": "EXCLUDED", "name": "strontium-89", "provided_by": ["infores:medic"], "synonym": ["Strontium-89"], "xref": ["DRUGBANK:DB09498"]}
{"category": ["biolink:Drug"], "id": "RXCUI:81981", "medic_approved_authorities": ["NMPA_CHINA"], "medic_approved_jurisdictions": ["china"], "medic_earliest_approval_date": "20191028", "medic_mention_id": "MEDICNE:f26da447-5aad-55d7-a498-34ba8809dfcc", "medic_reliability": "MEDIUM", "name": "ciprofloxacin hydrochloride", "provided_by": ["infores:medic"], "synonym": ["Ciprofloxacin Hydrochloride Tablets", "盐酸环丙沙星片"]}
{"available_from": ["prescription"], "category": ["biolink:Drug"], "id": "RXCUI:83171", "medic_application_numbers": ["020638|201276|202501"], "medic_approved_authorities": ["CDSCO", "FDA"], "medic_approved_jurisdictions": ["india", "usa"], "medic_earliest_approval_date": "19960626", "medic_marketing_status_usa": "RX", "medic_mention_id": "MEDICNE:efb7b193-6ac2-511c-8888-56da01183379", "medic_reliability": "HIGH", "name": "cidofovir", "provided_by": ["infores:medic"], "synonym": ["CIDOFOVIR", "Cidofovir dihydrate bulk drug and Cidofovir injection 75 mg/ ml (5 ml single use vial)"], "xref": ["UNII:768M1V522C"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0080203", "medic_stub": true, "name": "Tachyarrhythmias", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0085134", "medic_stub": true, "name": "Smoking Cessation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0085178", "medic_stub": true, "name": "Needlestick Injuries", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0085393", "medic_stub": true, "name": "Immunocompromised Hosts", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0085511", "medic_stub": true, "name": "Tooth Demineralization", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0085624", "medic_stub": true, "name": "Burning Sensation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0085658", "medic_stub": true, "name": "Infectious eczematoid dermatitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0085819", "medic_stub": true, "name": "Antibiotic-Associated Colitis", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0149922", "medic_stub": true, "name": "Circumscribed Neurodermatitis", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0150045", "medic_stub": true, "name": "Urge Incontinence", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0151559", "medic_stub": true, "name": "Central nervous system depression", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0152169", "medic_stub": true, "name": "Renal Colics", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0152452", "medic_stub": true, "name": "Adhesive pericarditis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0152516", "medic_stub": true, "name": "Bacterial enteritis NOS", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0152965", "medic_stub": true, "name": "Staphylococcal septicemia, unspecified", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0153027", "medic_stub": true, "name": "H zoster keratoconjunct", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0153254", "medic_stub": true, "name": "Candidal endocarditis", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0154143", "medic_stub": true, "name": "Toxic multinodular goiter", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0161544", "medic_stub": true, "name": "Poisoning by salicylates NOS", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0162702", "medic_stub": true, "name": "Ventriculoperitoneal Shunt", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0202236", "medic_stub": true, "name": "Triglyceride Measurement", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0233481", "medic_stub": true, "name": "Worries", "provided_by": ["infores:medic"]}
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{"category": ["biolink:Disease"], "id": "UMLS:C0233777", "medic_stub": true, "name": "Hallucinosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0233792", "medic_stub": true, "name": "Recent memory", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234215", "medic_stub": true, "name": "Sensory discomfort", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234233", "medic_stub": true, "name": "Soreness", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234428", "medic_stub": true, "name": "Disturbances of consciousness", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234535", "medic_stub": true, "name": "Clonic Seizures", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234725", "medic_stub": true, "name": "Normal hearing", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234933", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234935", "medic_stub": true, "name": "Acute urticaria", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234945", "medic_stub": true, "name": "Infiltration Anesthesia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234972", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0234987", "medic_stub": true, "name": "Postural dizziness", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235031", "medic_stub": true, "name": "Neurologic Symptoms", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235063", "medic_stub": true, "name": "Decreased pulmonary function", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235222", "medic_stub": true, "name": "Diastolic Hypertension", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235266", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235280", "medic_stub": true, "name": "Ototoxicity", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235304", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235309", "medic_stub": true, "name": "Upset Stomach", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235318", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235328", "medic_stub": true, "name": "Colonic Obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235329", "medic_stub": true, "name": "Small Intestinal Obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235339", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235410", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235511", "medic_stub": true, "name": "Superficial vein thrombosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235567", "medic_stub": true, "name": "Excessive bronchial secretion (finding)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235575", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0235950", "medic_stub": true, "name": "Zinc Deficiency Disorder", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0236053", "medic_stub": true, "name": "Mucosal Ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0236068", "medic_stub": true, "name": "Tongue swelling", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0236124", "medic_stub": true, "name": "Obstruction in digestive tract", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0237849", "medic_stub": true, "name": "peeling skin", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0238056", "medic_stub": true, "name": "Senile Chorea", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0238094", "medic_stub": true, "name": "Idiopathic edema", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0238421", "medic_stub": true, "name": "Selenium deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0238792", "medic_stub": true, "name": "Bone Lesion", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0239182", "medic_stub": true, "name": "Diarrhea, watery", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0239377", "medic_stub": true, "name": "Upper limb pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0240066", "medic_stub": true, "name": "Iron Deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0240412", "medic_stub": true, "name": "Intramuscular hematomas", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0240557", "medic_stub": true, "name": "Irritation of nose", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0240941", "medic_stub": true, "name": "Scalp itching", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0241310", "medic_stub": true, "name": "Suprapubic pain", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0241893", "medic_stub": true, "name": "Tick fever (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242006", "medic_stub": true, "name": "Secondary Myelofibrosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242073", "medic_stub": true, "name": "Pulmonary congestion", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242104", "medic_stub": true, "name": "Sputum production", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242129", "medic_stub": true, "name": "Thrombotic Stroke", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242147", "medic_stub": true, "name": "Acute urinary tract infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242154", "medic_stub": true, "name": "Vitamin D poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242184", "medic_stub": true, "name": "Oxygen Deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242297", "medic_stub": true, "name": "Nutritional Supplementation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242301", "medic_stub": true, "name": "Furuncles", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242339", "medic_stub": true, "name": "Dyslipidemias", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242363", "medic_stub": true, "name": "Islet Cell Tumors", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242459", "medic_stub": true, "name": "Simple Pulmonary Eosinophilia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242514", "medic_stub": true, "name": "Reciprocating Tachycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242656", "medic_stub": true, "name": "Disease Progressions", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242739", "medic_stub": true, "name": "Nutritional Support", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242792", "medic_stub": true, "name": "Progression-Free Survival", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0242973", "medic_stub": true, "name": "Ventricular Dysfunction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0243001", "medic_stub": true, "name": "Abdominal Abscess", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0243026", "medic_stub": true, "name": "Bloodstream Infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0259787", "medic_stub": true, "name": "Induced Labor", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0259799", "medic_stub": true, "name": "Superficial punctate keratitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0262421", "medic_stub": true, "name": "Chronic urinary tract infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0262655", "medic_stub": true, "name": "Urinary tract infections, recurrent", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0263222", "medic_stub": true, "name": "Chronic eczema", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0263351", "medic_stub": true, "name": "Pruritus senilis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0263361", "medic_stub": true, "name": "Psoriasis vulgaris", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0263443", "medic_stub": true, "name": "Pustular acne", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264220", "medic_stub": true, "name": "Respiratory disease (chronic) NOS", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264348", "medic_stub": true, "name": "Chronic asthmatic bronchitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264714", "medic_stub": true, "name": "Acute heart failure", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264719", "medic_stub": true, "name": "Acute congestive heart failure", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264890", "medic_stub": true, "name": "Severe sinus bradycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0264914", "medic_stub": true, "name": "Bifascicular Block", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0265319", "medic_stub": true, "name": "Facial angiofibromas", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0266763", "medic_stub": true, "name": "Placenta previa centralis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0266807", "medic_stub": true, "name": "Acute gastrointestinal hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267055", "medic_stub": true, "name": "Erosive oesophagitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267094", "medic_stub": true, "name": "Broncho-Esophageal Fistula", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267167", "medic_stub": true, "name": "Functional dyspepsia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267176", "medic_stub": true, "name": "Gastroparesis due to diabetes mellitus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267440", "medic_stub": true, "name": "Toxic colitis (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267465", "medic_stub": true, "name": "Intestinal Stricture", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267509", "medic_stub": true, "name": "Chronic idiopathic constipation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0267756", "medic_stub": true, "name": "Peritoneal abscess", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0268090", "medic_stub": true, "name": "Manganese deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0268093", "medic_stub": true, "name": "Chromium deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0268108", "medic_stub": true, "name": "Chronic gout", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0268849", "medic_stub": true, "name": "Overactive Detrusor", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0269075", "medic_stub": true, "name": "Acute vaginitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0269733", "medic_stub": true, "name": "Previous cesarean section (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0269842", "medic_stub": true, "name": "Hypertonic uterine activity", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0269845", "medic_stub": true, "name": "Prolapsed Cord", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0269932", "medic_stub": true, "name": "Puerperal Endometritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0270838", "medic_stub": true, "name": "Secondarily generalized seizures", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271084", "medic_stub": true, "name": "Exudative senile macular degeneration", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271105", "medic_stub": true, "name": "Acute iritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271292", "medic_stub": true, "name": "Corneal hypesthesia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271710", "medic_stub": true, "name": "Low blood sugar after a meal", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271738", "medic_stub": true, "name": "Secondary adrenocortical insufficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271903", "medic_stub": true, "name": "Nutritional anemias (D50-D53)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0271905", "medic_stub": true, "name": "Acquired Methemoglobinemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0272290", "medic_stub": true, "name": "Drug-induced ITP", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0272293", "medic_stub": true, "name": "Chronic idiopathic thrombocytopenic purpura", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0274435", "medic_stub": true, "name": "Transfusion Reaction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0274440", "medic_stub": true, "name": "Urticarial reaction to blood product", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0274944", "medic_stub": true, "name": "Gold poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0275551", "medic_stub": true, "name": "Spontan bact peritonitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0275556", "medic_stub": true, "name": "Acute bacterial sinusitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0275879", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276028", "medic_stub": true, "name": "Meningitis due to Hemophilus influenzae", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276223", "medic_stub": true, "name": "Recurrent herpes simplex", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276262", "medic_stub": true, "name": "Flat wart", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276353", "medic_stub": true, "name": "Influenza caused by Influenza virus, type B (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276500", "medic_stub": true, "name": "Human immunodeficiency virus I infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276501", "medic_stub": true, "name": "Human immunodeficiency virus II infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276535", "medic_stub": true, "name": "AIDS-related Kaposi sarcoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276622", "medic_stub": true, "name": "Acute viral hepatitis, unspecified", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0276926", "medic_stub": true, "name": "Schistosoma haematobia Infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0277355", "medic_stub": true, "name": "Flea Infestations", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0277528", "medic_stub": true, "name": "Traveler's diarrhea", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0277785", "medic_stub": true, "name": "Physiopathology", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278139", "medic_stub": true, "name": "Moderate pain (finding)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278140", "medic_stub": true, "name": "Severe pain (finding)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278488", "medic_stub": true, "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278493", "medic_stub": true, "name": "Recurrent Breast Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278498", "medic_stub": true, "name": "Stage IV Gastric Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278517", "medic_stub": true, "name": "Recurrent Non-Small Cell Lung Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278553", "medic_stub": true, "name": "Recurrent Colon Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278554", "medic_stub": true, "name": "Recurrent Rectal Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278579", "medic_stub": true, "name": "Recurrent Carcinoma of Cervix", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278688", "medic_stub": true, "name": "Metastatic Ovarian Carcinoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278689", "medic_stub": true, "name": "Recurrent Ovarian Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278694", "medic_stub": true, "name": "Disseminated Neuroblastoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278695", "medic_stub": true, "name": "Recurrent Neuroblastoma", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0278987", "medic_stub": true, "name": "Stage IV Non-Small Cell Lung Cancer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0280100", "medic_stub": true, "name": "Solid Tumor", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0280962", "medic_stub": true, "name": "Bone Marrow Depression", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0282193", "medic_stub": true, "name": "Iron Overload", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0302160", "medic_stub": true, "name": "Superficial folliculitis (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0302302", "medic_stub": true, "name": "Closed comedo", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0311375", "medic_stub": true, "name": "Arsenic Poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0312854", "medic_stub": true, "name": "Extravascular Hemolysis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0320225", "medic_stub": true, "name": "Internal parasite", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0321943", "medic_stub": true, "name": "Fasciola gigantica", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0322630", "medic_stub": true, "name": "Body Louse", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0322635", "medic_stub": true, "name": "Crab Louse", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0323400", "medic_stub": true, "name": "Ticks", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0330962", "medic_stub": true, "name": "Poison Sumac", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0332665", "medic_stub": true, "name": "Recent injury (morphologic abnormality)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0332803", "medic_stub": true, "name": "Surgical Wound", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0332817", "medic_stub": true, "name": "Minor laceration", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0333128", "medic_stub": true, "name": "Open comedo", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0333294", "medic_stub": true, "name": "Recurrent ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0333303", "medic_stub": true, "name": "Dendritic ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0333504", "medic_stub": true, "name": "Focal necrosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0333954", "medic_stub": true, "name": "Subinvolution", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0334024", "medic_stub": true, "name": "Luteinisation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0334102", "medic_stub": true, "name": "Lymphangiomatosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0334187", "medic_stub": true, "name": "Secretory endometrium", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0334634", "medic_stub": true, "name": "Lymphoma, Lymphocytic, Diffuse, Poorly-Differentiated", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0337380", "medic_stub": true, "name": "Endosc retro pancreatog", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0338437", "medic_stub": true, "name": "Neurocysticercoses", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0338472", "medic_stub": true, "name": "Toxic encephalopathy due to lead", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0339164", "medic_stub": true, "name": "Hay fever conjunctivitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0339170", "medic_stub": true, "name": "Fungal conjunctivitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0339215", "medic_stub": true, "name": "Bacterial corneal ulcer", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0339289", "medic_stub": true, "name": "Cornea Injuries", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340288", "medic_stub": true, "name": "Stable Angina", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340291", "medic_stub": true, "name": "Silent myocardial ischemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340464", "medic_stub": true, "name": "Premature Cardiac Complexes", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340535", "medic_stub": true, "name": "Acute massive pulmonary embolism", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340654", "medic_stub": true, "name": "Arterial hemorrhage", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340845", "medic_stub": true, "name": "Mixed vascular malformation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0340861", "medic_stub": true, "name": "Electromechanical Dissociation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0341117", "medic_stub": true, "name": "Erosion of esophagus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0341491", "medic_stub": true, "name": "Pancreatic duct obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0341736", "medic_stub": true, "name": "Neurogenic detrusor overactivity", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0341742", "medic_stub": true, "name": "Acute retention of urine", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342317", "medic_stub": true, "name": "Loss of hypoglycemic warning due to diabetes mellitus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342879", "medic_stub": true, "name": "Primary hypercholesterolemia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342882", "medic_stub": true, "name": "Familial hypercholesterolemia - heterozygous", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342919", "medic_stub": true, "name": "Essential fatty acid deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342936", "medic_stub": true, "name": "Infantile beriberi", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0342951", "medic_stub": true, "name": "Hypervitaminosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343065", "medic_stub": true, "name": "Dermographism", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343386", "medic_stub": true, "name": "Clostridium difficile Infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343407", "medic_stub": true, "name": "Infection caused by Klebsiella aerogenes", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343466", "medic_stub": true, "name": "Erythema nodosum leprosum", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343730", "medic_stub": true, "name": "Perianal warts", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343884", "medic_stub": true, "name": "Acute disseminated candidiasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0343900", "medic_stub": true, "name": "Disseminated histoplasmosis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0344132", "medic_stub": true, "name": "Carbamate poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0346208", "medic_stub": true, "name": "Vaginal Intraepithelial Neoplasia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0347869", "medic_stub": true, "name": "Akinetic Epilepsy", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0348024", "medic_stub": true, "name": "Thyroid dysfunction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0348754", "medic_stub": true, "name": "[X]Toxic liver disease, unspecified", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0348898", "medic_stub": true, "name": "Irritable bowel syndrome with diarrhea", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0348997", "medic_stub": true, "name": "Intestinal strongyloidiasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0349009", "medic_stub": true, "name": "Candidal septicemia (disorder)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0349071", "medic_stub": true, "name": "Chronic anal fissure", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0349208", "medic_stub": true, "name": "Manic Episode", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0353676", "medic_stub": true, "name": "Organophosphorus Poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0373397", "medic_stub": true, "name": "Thyroid imaging", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0373595", "medic_stub": true, "name": "Creatinine Clearance", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0374997", "medic_stub": true, "name": "Helicobacter pylori", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0376154", "medic_stub": true, "name": "Callosities", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0376186", "medic_stub": true, "name": "Impetigo Contagiosa", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0376249", "medic_stub": true, "name": "frequency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0391820", "medic_stub": true, "name": "Gouty nephropathy NOS", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0391852", "medic_stub": true, "name": "Hypomobility (finding)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392445", "medic_stub": true, "name": "Necrobiosis Lipoidica Diabeticorum", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392519", "medic_stub": true, "name": "Calcium deficiency", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392535", "medic_stub": true, "name": "Induced Abortion", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392618", "medic_stub": true, "name": "Postoperative Infection", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392621", "medic_stub": true, "name": "Methyl alcohol poisoning", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0392702", "medic_stub": true, "name": "Unspecified abnormal involuntary movements", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0393736", "medic_stub": true, "name": "Muscular headache", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0393739", "medic_stub": true, "name": "Episodic Cluster Headache", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0394836", "medic_stub": true, "name": "Local anesthetic lumbar epidural block", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0395433", "medic_stub": true, "name": "Removal of corneal suture", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0399271", "medic_stub": true, "name": "Oral irrigation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0400843", "medic_stub": true, "name": "Mechanical ileus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0400877", "medic_stub": true, "name": "Postoperative ileus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0400979", "medic_stub": true, "name": "Biliary tract obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0401146", "medic_stub": true, "name": "Constipation - functional", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0401160", "medic_stub": true, "name": "Chemotherapy-Related Nausea and/or Vomiting", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0403447", "medic_stub": true, "name": "Chronic Kidney Insufficiencies", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0404484", "medic_stub": true, "name": "Chronic pelvic pain of female", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0404572", "medic_stub": true, "name": "Infertility, female, associated with anovulation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0404990", "medic_stub": true, "name": "Postabortal Endometritis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0406175", "medic_stub": true, "name": "Chafing of skin", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0406317", "medic_stub": true, "name": "Chronic small plaque psoriasis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0406326", "medic_stub": true, "name": "Psoriasis of scalp", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0406446", "medic_stub": true, "name": "Damaged nail", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0409908", "medic_stub": true, "name": "Secondary gout", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0410022", "medic_stub": true, "name": "Supraspinatus tendinitis", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0410919", "medic_stub": true, "name": "Fetal Bradycardia", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0411280", "medic_stub": true, "name": "Head Louse", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412155", "medic_stub": true, "name": "Retrograde cystography", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412219", "medic_stub": true, "name": "Left ventriculogram (procedure)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412251", "medic_stub": true, "name": "Abdominal angiography", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412270", "medic_stub": true, "name": "Renal venography", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412290", "medic_stub": true, "name": "Peripheral Angiography", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412375", "medic_stub": true, "name": "Lymphoscintigraphy", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412482", "medic_stub": true, "name": "Vitamin B12 absorption", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0412591", "medic_stub": true, "name": "CT cisternography", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0423153", "medic_stub": true, "name": "Tearing", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0423761", "medic_stub": true, "name": "Skin elasticity", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0423783", "medic_stub": true, "name": "Acne scar", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0423813", "medic_stub": true, "name": "Cracked nails", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0424323", "medic_stub": true, "name": "physical aggression", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0424489", "medic_stub": true, "name": "Chapped lip", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0424561", "medic_stub": true, "name": "Excessive Bleeding", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0425710", "medic_stub": true, "name": "Peripheral blood flow", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0426063", "medic_stub": true, "name": "Transverse presentation", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0426265", "medic_stub": true, "name": "Sub-involution of uterus", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0426576", "medic_stub": true, "name": "Gastrointestinal symptoms", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0428475", "medic_stub": true, "name": "Triglyceride level - finding", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0428857", "medic_stub": true, "name": "Myocardial perfusion", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0428858", "medic_stub": true, "name": "Myocardial perfusion defect", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0429825", "medic_stub": true, "name": "Mechanical urinary obstruction", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0429877", "medic_stub": true, "name": "Tissue perfusion measure", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0434294", "medic_stub": true, "name": "Muscle sprain NOS", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0439609", "medic_stub": true, "name": "Immediacy", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0439650", "medic_stub": true, "name": "Fullness", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0439660", "medic_stub": true, "name": "Inherited", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0439677", "medic_stub": true, "name": "Myelogenous", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0441723", "medic_stub": true, "name": "Irritation (qualifier value)", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0443282", "medic_stub": true, "name": "Premenstrual", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0446292", "medic_stub": true, "name": "Poison Oaks", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0446859", "medic_stub": true, "name": "Anterior Capsule of the Lens", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0451615", "medic_stub": true, "name": "Pain Relief", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0453996", "medic_stub": true, "name": "Tobacco Smoking", "provided_by": ["infores:medic"]}
{"category": ["biolink:Disease"], "id": "UMLS:C0455052", "medic_stub": true, "name": "Bowel Preparation", "provided_by": ["infores:medic"]}
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